format-version: 1.2
data-version: 1.291
date: 21:09:2024 20:13
saved-by: rgd
auto-generated-by: --RGD OBO FILE GENERATOR -- build 2023-05-30 --
subsetdef: RGD_JBrowse_slim "RGD_JBrowse_slim"
default-namespace: rgd_disease_ontology
remark: In January of 2018, RGD transitioned from use of the Comparative Toxicogenomics Database's "MEDIC" vocabulary, based on a combination of the Medical Subject Headings (MeSH) and Online Mendelian Inheritance in Man (OMIM) disease vocabularies, to the use of the Human Disease Ontology (DO, see http://bioportal.bioontology.org/ontologies/DOID) as the basis of the disease ontology in use at RGD.  As found on the RGD website and in RGD's ftp files, the DO has been supplemented with additional terms needed for curation at RGD to form the "RGD Disease Ontology (RDO)".  An up-to-date copy of this ontology file is generated automatically from the RGD database and posted to the RGD ftp site at ftp://ftp.rgd.mcw.edu/pub/ontology/disease/ on a daily basis. Ontologies with ids in the format "DOID:9xxxxxx" have been added by RGD curators.  Wherever possible, DOIDs have been mapped to the previous RDO IDs and RDO IDs (i.e. RDO:xxxxxxx IDs) appear as alternate IDs for the existing terms.
ontology: rdo

[Term]
id: DOID:0001816
name: angiosarcoma
def: "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. (DO)" [http://en.wikipedia.org/wiki/Hemangiosarcoma "DO", https://en.wikipedia.org/wiki/Angiosarcoma "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23327728 "DO"]
synonym: "angiosarcomas" EXACT []
synonym: "hemangiosarcoma" EXACT []
synonym: "hemangiosarcomas" EXACT []
synonym: "vascular sarcoma" BROAD []
xref: EFO:0003967
xref: EFO:0003968
xref: ICDO:9120/3
xref: MESH:D006394
xref: NCI:C122783
xref: NCI:C24016
xref: NCI:C3088
xref: NCI:C9275
is_a: DOID:1115 ! sarcoma
is_a: DOID:175 ! vascular cancer

[Term]
id: DOID:0002116
name: pterygium
def: "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation. (DO)" [https://en.wikipedia.org/wiki/Pterygium_(conjunctiva) "DO"]
synonym: "pterygiums" EXACT []
synonym: "surfer's eye" EXACT []
xref: EFO:0000678
xref: MESH:D011625
xref: NCI:C133744
is_a: DOID:10124 ! corneal disease

[Term]
id: DOID:0014667
name: disease of metabolism
def: "A disease that involving errors in metabolic processes of building or degradation of molecules. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK22259/ "DO"]
synonym: "metabolic disease" EXACT []
synonym: "metabolic diseases" EXACT []
synonym: "metabolic toxicity" NARROW []
synonym: "thesaurismoses" EXACT []
synonym: "thesaurismosis" EXACT []
xref: EFO:0000589
xref: EFO:0011054
xref: ICD10CM:E88.9
xref: ICD9CM:277.9
xref: MESH:D008659
xref: NCI:C3235
is_a: DOID:9008231 ! Nutritional and Metabolic Diseases

[Term]
id: DOID:0040001
name: shrimp allergy
def: "A crustacean allergy that has_allergic_trigger shrimp. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20471069 "DO"]
is_a: DOID:0060524 ! crustacean allergy

[Term]
id: DOID:0040002
name: aspirin allergy
def: "A drug allergy that has_allergic_trigger acetylsalicylic acid. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2468301 "DO"]
synonym: "acetylsalicylic acid allergy" EXACT []
synonym: "ASA allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040003
name: benzylpenicillin allergy
def: "A beta-lactam allergy that has_allergic_trigger benzylpenicillin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14483916 "DO"]
synonym: "benzyl penicillin allergy" EXACT []
synonym: "penicillin G allergy" EXACT []
is_a: DOID:0060519 ! beta-lactam allergy

[Term]
id: DOID:0040004
name: amoxicillin allergy
def: "A beta-lactam allergy that has_allergic_trigger amoxicillin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11746950 "DO"]
is_a: DOID:0060519 ! beta-lactam allergy

[Term]
id: DOID:0040005
name: ceftriaxone allergy
def: "A cephalosporin allergy that has_allergic_trigger ceftriaxone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833570 "DO"]
synonym: "rocephin allergy" EXACT []
is_a: DOID:0040021 ! cephalosporin allergy

[Term]
id: DOID:0040006
name: carbamazepine allergy
def: "A drug allergy that has_allergic_trigger carbamazepine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7602118 "DO"]
synonym: "carbamazepen allergy" EXACT []
synonym: "tegretol allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040007
name: abacavir allergy
alt_id: DOID:9007813
def: "A drug allergy that has_allergic_trigger abacavir. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25674793 "DO"]
synonym: "Abacavir Hypersensitivity" EXACT []
synonym: "ABACAVIR HYPERSENSITIVITY, SUSCEPTIBILITY TO" RELATED []
synonym: "ABC allergy" EXACT []
xref: MIM:142830
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040008
name: isoniazide allergy
def: "A drug allergy that has_allergic_trigger isoniazide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"]
synonym: "INH allergy" EXACT []
synonym: "isonicotinylhydrazide allergy" EXACT []
xref: ICD10CM:Z88.1
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040009
name: lidocaine allergy
def: "A drug allergy that has_allergic_trigger lidocaine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9013953 "DO"]
synonym: "lidoderm allergy" EXACT []
synonym: "lignocaine allergy" EXACT []
synonym: "xylocaine allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040010
name: mepivacaine allergy
def: "A drug allergy that has_allergic_trigger mepivacaine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9989796 "DO"]
synonym: "carbocaine allergy" EXACT []
synonym: "polocaine allergy" EXACT []
xref: ICD10CM:Z88.4
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040011
name: phenobarbital allergy
def: "A drug allergy that has_allergic_trigger phenobarbital. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11994495 "DO"]
synonym: "luminal allergy" EXACT []
synonym: "phenobarbitol allergy" EXACT []
synonym: "phenobarbitone allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040012
name: phenytoin allergy
def: "A drug allergy that has_allergic_trigger phenytoin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7602118 "DO"]
synonym: "dilantin allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040013
name: ranitidine allergy
def: "A drug allergy that has_allergic_trigger ranitidine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7782125 "DO"]
synonym: "zantac allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040014
name: corticosteroid allergy
def: "A drug allergy that has_allergic_trigger corticosteroid. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2265088 "DO"]
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040015
name: sulfonamide allergy
def: "A drug allergy that has_allergic_trigger sulfonamide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2434548 "DO"]
xref: ICD10CM:Z88.9
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040016
name: sulfamethoxazole allergy
def: "A drug allergy that has_allergic_trigger sulfamethoxazole. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7602118 "DO"]
synonym: "SMX allergy" EXACT []
synonym: "SMZ allergy" EXACT []
synonym: "sulphamethoxazole allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040017
name: suprofen allergy
def: "A drug allergy that has_allergic_trigger suprofen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/509935 "DO"]
synonym: "Profenal allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040018
name: thiopental allergy
def: "A drug allergy that has_allergic_trigger thiopental. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215478 "DO"]
synonym: "penthiobarbital allergy" EXACT []
synonym: "pentothiobarbital allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040019
name: D-mannitol allergy
def: "A drug allergy that has_allergic_trigger D-mannitol. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15479277 "DO"]
synonym: "mannitol allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040020
name: cefotaxime allergy
def: "A cephalosporin allergy that has_allergic_trigger cefotaxime. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833570 "DO"]
is_a: DOID:0040021 ! cephalosporin allergy

[Term]
id: DOID:0040021
name: cephalosporin allergy
def: "A drug allergy that has_allergic_trigger cephalosporin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2083978 "DO"]
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040022
name: amodiaquine allergy
def: "A drug allergy that has_allergic_trigger amodiaquine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1959977 "DO"]
synonym: "Camoquin allergy" EXACT []
synonym: "Flavoquine allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040023
name: cefaclor allergy
def: "A cephalosporin allergy that has_allergic_trigger cefaclor. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12569987 "DO"]
synonym: "ceclor allergy" EXACT []
synonym: "cephaclor allergy" EXACT []
is_a: DOID:0040021 ! cephalosporin allergy

[Term]
id: DOID:0040024
name: ceftazidime allergy
def: "A cephalosporin allergy that has_allergic_trigger ceftazidime. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833570 "DO"]
synonym: "Fortaz allergy" EXACT []
synonym: "Tazicef allergy" EXACT []
is_a: DOID:0040021 ! cephalosporin allergy

[Term]
id: DOID:0040025
name: cefuroxime allergy
def: "A cephalosporin allergy that has_allergic_trigger cefuroxime. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833570 "DO"]
synonym: "cephuroxime allergy" EXACT []
synonym: "Zinacef allergy" EXACT []
is_a: DOID:0040021 ! cephalosporin allergy

[Term]
id: DOID:0040026
name: chlorhexidine allergy
def: "A drug allergy that has_allergic_trigger chlorhexidine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10848923 "DO"]
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040027
name: cyclophosphamide allergy
def: "A drug allergy that has_allergic_trigger cyclophosphamide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8024619 "DO"]
synonym: "cytophosphane allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040028
name: succinylcholine allergy
def: "A drug allergy that has_allergic_trigger succinylcholine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2410473 "DO"]
synonym: "dicholine succinate allergy" EXACT []
synonym: "succinocholine allergy" EXACT []
synonym: "sux allergy" EXACT []
synonym: "suxamethonium allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040029
name: trimethoprim allergy
def: "A drug allergy that has_allergic_trigger trimethoprim. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3377143 "DO"]
synonym: "Primsol allergy" EXACT []
synonym: "proloprim allergy" EXACT []
synonym: "TMP allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040030
name: cefixime allergy
def: "A cephalosporin allergy that has_allergic_trigger cefixime. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16867046 "DO"]
is_a: DOID:0040021 ! cephalosporin allergy

[Term]
id: DOID:0040031
name: diclofenac allergy
def: "A drug allergy that has_allergic_trigger diclofenac. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21060839 "DO"]
synonym: "Voltaren allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040032
name: carbapenem allergy
def: "A drug allergy that has_allergic_trigger carbapenems. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2457043 "DO"]
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040033
name: piperacillin allergy
def: "A beta-lactam allergy that has_allergic_trigger piperacillin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21532862 "DO"]
is_a: DOID:0060519 ! beta-lactam allergy

[Term]
id: DOID:0040034
name: rocuronium allergy
def: "A drug allergy that has_allergic_trigger rocuronium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17667569 "DO"]
synonym: "Esmeron allergy" EXACT []
synonym: "Zemuron allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040035
name: sulfasalazine allergy
def: "A drug allergy that has_allergic_trigger sulfasalazine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2434548 "DO"]
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040036
name: tubocurarine allergy
def: "A drug allergy that has_allergic_trigger tubocurarine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215478 "DO"]
synonym: "DTC allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040037
name: aztreonam allergy
def: "A beta-lactam allergy that has_allergic_trigger aztreonam. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1991925 "DO"]
synonym: "Azactam allergy" EXACT []
synonym: "Primbactam allergy" EXACT []
is_a: DOID:0060519 ! beta-lactam allergy

[Term]
id: DOID:0040038
name: meropenem allergy
def: "An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23668298 "DO"]
synonym: "Merrem allergy" EXACT []
is_a: DOID:9415 ! allergic asthma

[Term]
id: DOID:0040040
name: hexamethylene diisocyanate allergic asthma
def: "An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8711735 "DO"]
synonym: "allergic asthma to HDI" EXACT []
synonym: "allergic asthma to HMDI" EXACT []
is_a: DOID:0040041 ! isocyanates allergic asthma

[Term]
id: DOID:0040041
name: isocyanates allergic asthma
def: "An allergic asthma that has_allergic_trigger isocyanates. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3349596 "DO"]
is_a: DOID:9415 ! allergic asthma

[Term]
id: DOID:0040042
name: diphenylmethane-4,4'-diisocyanate allergic asthma
def: "An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8711735 "DO"]
synonym: "allergic asthma to MDI" EXACT []
is_a: DOID:0040041 ! isocyanates allergic asthma

[Term]
id: DOID:0040043
name: toluene meta-diisocyanate allergic asthma
def: "An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11289402 "DO"]
synonym: "allergic asthma to TDI" EXACT []
is_a: DOID:0040041 ! isocyanates allergic asthma

[Term]
id: DOID:0040044
name: methyl isocyanate allergic asthma
def: "An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3622432 "DO"]
synonym: "allergic asthma to MIC" EXACT []
is_a: DOID:0040041 ! isocyanates allergic asthma

[Term]
id: DOID:0040045
name: nickel allergic asthma
def: "An allergic asthma that has_allergic_trigger nickel atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6691936 "DO"]
synonym: "allergic asthma to Ni" EXACT []
is_a: DOID:0060501 ! metal allergy
is_a: DOID:9415 ! allergic asthma

[Term]
id: DOID:0040046
name: nickel allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger nickel atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7671317 "DO"]
synonym: "allergic contact dermatitis to Ni" EXACT []
synonym: "contact dermatitis due to nickel" NARROW []
xref: EFO:0005320
xref: ICD10CM:L23.0
is_a: DOID:0060501 ! metal allergy
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040047
name: trimellitic anhydride allergic asthma
def: "An allergic asthma that has_allergic_trigger trimellitic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6643876 "DO"]
synonym: "allergic asthma to TMA" EXACT []
is_a: DOID:9415 ! allergic asthma

[Term]
id: DOID:0040048
name: phthalic anhydride allergic asthma
def: "An allergic asthma that has_allergic_trigger phthalic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3711550 "DO"]
is_a: DOID:9415 ! allergic asthma

[Term]
id: DOID:0040049
name: maleic anhydride allergic asthma
def: "An allergic asthma that has_allergic_trigger maleic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3711550 "DO"]
synonym: "allergic asthma to MA" EXACT []
is_a: DOID:9415 ! allergic asthma

[Term]
id: DOID:0040050
name: tetrachlorophthalic anhydride allergic asthma
def: "An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3711550 "DO"]
is_a: DOID:9415 ! allergic asthma

[Term]
id: DOID:0040051
name: hexahydrophthalic anhydride allergic asthma
def: "An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4008795 "DO"]
synonym: "allergic asthma to HHPA" EXACT []
is_a: DOID:9415 ! allergic asthma

[Term]
id: DOID:0040052
name: diphenylmethane-4,4'-diisocyanate allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6296214 "DO"]
synonym: "allergic contact dermatitis to MDI" EXACT []
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040053
name: cobalt allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger cobalt atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8566016 "DO"]
synonym: "allergic contact dermatitis to Co" EXACT []
is_a: DOID:0060501 ! metal allergy
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040054
name: cobalt allergic asthma
def: "An allergic asthma that has_allergic_trigger cobalt atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7444839 "DO"]
synonym: "Co allergic asthma" EXACT []
is_a: DOID:0060501 ! metal allergy
is_a: DOID:9415 ! allergic asthma

[Term]
id: DOID:0040055
name: palladium allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger palladium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25097477 "DO"]
synonym: "allergic contact dermatitis to Pd" EXACT []
is_a: DOID:0060501 ! metal allergy
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040056
name: chromium allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger chromium atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1108802 "DO"]
is_a: DOID:0060501 ! metal allergy
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040057
name: benzoic acid allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger benzoic acid. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25097477 "DO"]
synonym: "allergic contact dermatitis to benzoate" EXACT []
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040058
name: 1,4-phenylenediamine allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8400900 "DO"]
synonym: "allergic contact dermatitis to PPD" EXACT []
synonym: "allergic contact dermatitis to p-phenylenediamine" EXACT []
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040059
name: potassium dichromate allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger potassium dichromate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15462465 "DO"]
is_a: DOID:0060501 ! metal allergy
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040060
name: ketoprofen photoallergic dermatitis
def: "A photoallergic dermatitis that has_allergic_trigger ketoprofen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11169173 "DO"]
synonym: "photoallergic dermatitis to orudis" EXACT []
is_a: DOID:0060500 ! drug allergy
is_a: DOID:3818 ! photoallergic dermatitis

[Term]
id: DOID:0040061
name: remazole black respiratory allergy
def: "A respiratory allergy that has_allergic_trigger remazole black-GR. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2312995 "DO"]
synonym: "respiratory allergy to Reactive Black 5" EXACT []
is_a: DOID:0060496 ! respiratory allergy
is_a: DOID:0060501 ! metal allergy

[Term]
id: DOID:0040062
name: chloramine T respiratory allergy
def: "A respiratory allergy that has_allergic_trigger chloramine T. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2758361 "DO"]
synonym: "respiratory allergy to Chloraseptin" EXACT []
synonym: "respiratory allergy to Chlorazol" EXACT []
synonym: "respiratory allergy to Trichlorol" EXACT []
is_a: DOID:0060496 ! respiratory allergy
is_a: DOID:0060501 ! metal allergy

[Term]
id: DOID:0040063
name: 4-vinylcyclohexene dioxide respiratory allergy
def: "A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3356477 "DO"]
synonym: "respiratory allergy to vinyl cyclohexene diepoxide" EXACT []
is_a: DOID:0060496 ! respiratory allergy

[Term]
id: DOID:0040064
name: carvone allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger (-)-carvone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11380545 "DO"]
synonym: "allergic contact dermatitis to levo-carvone" EXACT []
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040065
name: quinidine allergy
def: "A drug allergy that has_allergic_trigger quinidine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"]
synonym: "Kinidin allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040066
name: melphalan allergy
def: "A drug allergy that has_allergic_trigger melphalan. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"]
synonym: "Alkeran allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040067
name: neomycin sulfate allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21616561 "DO"]
synonym: "allergic contact dermatitis to neomycin sulphate" EXACT []
is_a: DOID:0060500 ! drug allergy
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040068
name: 4-tert-butylphenol allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8462290 "DO"]
synonym: "allergic contact dermatitis to butylphen" EXACT []
synonym: "allergic contact dermatitis to PTBP" EXACT []
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040069
name: 1-chloro-2,4-dinitrobenzene allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17008874 "DO"]
synonym: "allergic contact dermatitis to dinitrochlorobenzene" EXACT []
synonym: "allergic contact dermatitis to DNCB" EXACT []
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040070
name: co-trimoxazole allergy
def: "A drug allergy that has_allergic_trigger co-trimoxazole. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"]
synonym: "Bactrim allergy" EXACT []
synonym: "cotrimoxazol allergy" EXACT []
synonym: "TMP/SMX allergy" EXACT []
synonym: "trimethoprim/sulfamethoxazole allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040071
name: sodium aurothiomalate allergy
def: "A drug allergy that has_allergic_trigger sodium aurothiomalate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"]
synonym: "gold sodium thiomalate allergy" EXACT []
is_a: DOID:0060500 ! drug allergy
created_by: rgd
creation_date: 2016-06-14T12:24:56Z

[Term]
id: DOID:0040072
name: parthenolide allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger parthenolide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17986299 "DO"]
synonym: "allergic contact dermatitis to feverfew" EXACT []
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040073
name: disodium cromoglycate allergy
def: "A drug allergy that has_allergic_trigger disodium cromoglycate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3128591 "DO"]
synonym: "DSCG allergy" EXACT []
is_a: DOID:0060500 ! drug allergy
is_a: DOID:0060501 ! metal allergy

[Term]
id: DOID:0040074
name: formaldehyde allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger formaldehyde. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7902023 "DO"]
synonym: "allergic contact dermatitis to formalin" EXACT []
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040075
name: benzo[d]isothiazol-3-one allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6446435 "DO"]
synonym: "allergic contact dermatitis to benzisothiazolone" EXACT []
synonym: "allergic contact dermatitis to BIT" EXACT []
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040076
name: phthalyl group allergy
def: "A drug allergy that has_allergic_trigger phthalyl group. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7400667 "DO"]
synonym: "phthalyl allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040077
name: alcuronium bromide allergy
def: "A drug allergy that has_allergic_trigger alcuronium bromide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215478 "DO"]
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040078
name: gallamine allergy
def: "A drug allergy that has_allergic_trigger gallamine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215478 "DO"]
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040079
name: 2,4-dinitrophenyl allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17008874 "DO"]
synonym: "allergic contact dermatitis to DNP" EXACT []
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040080
name: patent blue V allergy
def: "A drug allergy that has_allergic_trigger patent blue V. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19804438 "DO"]
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040081
name: acid anhydride respiratory allergy
def: "A respiratory allergy that has_allergic_trigger acid anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6643876 "DO"]
is_a: DOID:0060496 ! respiratory allergy

[Term]
id: DOID:0040082
name: oxirane allergy
def: "A drug allergy that has_allergic_trigger oxirane. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3932500 "DO"]
synonym: "ethylene oxide allergy" EXACT []
synonym: "ETO allergy" EXACT []
is_a: DOID:0060500 ! drug allergy

[Term]
id: DOID:0040083
name: Chlamydia pneumonia
def: "A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16831205 "DO"]
synonym: "Chlamydial Pneumonia" EXACT []
synonym: "Chlamydial Pneumonias" EXACT []
synonym: "chlamydophila pneumonia" EXACT []
synonym: "chlamydophila pneumonias" EXACT []
xref: ICD10CM:J16.0
xref: ICD9CM:483.1
xref: MESH:D061387
is_a: DOID:11263 ! chlamydia
is_a: DOID:874 ! bacterial pneumonia
is_a: DOID:9008527 ! Chlamydophila Infections

[Term]
id: DOID:0040084
name: Streptococcus pneumonia
def: "A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26396191 "DO"]
xref: EFO:0007499
xref: ICD10CM:J13
xref: ICD9CM:481
is_a: DOID:874 ! bacterial pneumonia
is_a: DOID:9006844 ! Streptococcal Infections

[Term]
id: DOID:0040085
name: bacterial sepsis
def: "A bacterial infectious disease has_material_basis_in Bacteria. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20421654 "DO"]
xref: EFO:0003033
xref: ICD9CM:995.91
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:9004484 ! Sepsis

[Term]
id: DOID:0040086
name: polyomavirus-associated nephropathy
def: "A viral infectious disease has_material_basis_in BK polyomavirus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16537617 "DO"]
synonym: "PVAN" EXACT []
is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome

[Term]
id: DOID:0040087
name: autoimmune peripheral neuropathy
def: "An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7693874 "DO"]
is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system

[Term]
id: DOID:0040088
name: autoimmune uveitis
def: "An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12938234 "DO"]
is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat
is_a: DOID:13141 ! uveitis

[Term]
id: DOID:0040089
name: autoimmune optic neuritis
def: "An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7516573 "DO"]
is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system
is_a: DOID:1210 ! optic neuritis

[Term]
id: DOID:0040090
name: autoimmune gastritis
def: "An autoimmune disease of gastrointestinal tract that is located_in the stomach. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12645953 "DO"]
is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract
is_a: DOID:76 ! stomach disease

[Term]
id: DOID:0040091
name: autoimmune pancreatitis
def: "An autoimmune disease of endocrine system that is located_in the pancreas. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19940298 "DO"]
synonym: "Idiopathic Duct-centric Pancreatitis" EXACT []
synonym: "IgG4-related Pancreatitis" EXACT []
synonym: "type 1 AIP" NARROW []
synonym: "Type 1 Autoimmune Pancreatitis" NARROW []
synonym: "type 2 AIP" NARROW []
synonym: "Type 2 Autoimmune Pancreatitis" NARROW []
xref: EFO:1000780
xref: MESH:D000081012
is_a: DOID:0060005 ! autoimmune disease of endocrine system
is_a: DOID:9006190 ! Chronic Pancreatitis

[Term]
id: DOID:0040092
name: juvenile ankylosing spondylitis
def: "An ankylosing spondylitis with onset during childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7541736 "DO"]
xref: ICD10CM:M08.1
is_a: DOID:7147 ! ankylosing spondylitis

[Term]
id: DOID:0040093
name: drug-induced lupus erythematosus
def: "A lupus erythematosus caused by chronic use of certain drugs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1378852 "DO"]
synonym: "DIL" EXACT []
synonym: "DILE" EXACT []
xref: ICD10CM:M32.0
xref: NCI:C114354
xref: ORDO:231111
is_a: DOID:8857 ! lupus erythematosus

[Term]
id: DOID:0040094
name: autoimmune glomerulonephritis
def: "An autoimmune disease of urogenital tract that is located_in the renal glomerulus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8809141 "DO"]
is_a: DOID:0060049 ! autoimmune disease of urogenital tract

[Term]
id: DOID:0040095
name: autoimmune cardiomyopathy
def: "An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10762456 "DO"]
is_a: DOID:0060051 ! autoimmune disease of cardiovascular system
is_a: DOID:114 ! heart disease

[Term]
id: DOID:0040096
name: autoimmune atherosclerosis
def: "An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17097662 "DO"]
is_a: DOID:0060051 ! autoimmune disease of cardiovascular system

[Term]
id: DOID:0040097
name: autoimmune vasculitis
def: "An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23549081 "DO"]
is_a: DOID:0060051 ! autoimmune disease of cardiovascular system

[Term]
id: DOID:0040098
name: pemphigus gestationis
def: "A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16552711 "DO"]
xref: EFO:1000709
xref: ICD10CM:O26.4
is_a: DOID:9182 ! pemphigus

[Term]
id: DOID:0040099
name: livedoid vasculitis
def: "A vasculitis with purpuric ulcers. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10925314 "DO"]
synonym: "Idiopathic Atrophic Blanche" EXACT []
synonym: "livedoid vasculopathy" EXACT []
synonym: "livedo reticularis with summer ulceration" EXACT []
synonym: "Livedo Vasculitis" EXACT []
synonym: "White Atrophy" EXACT []
xref: ICD10CM:L95.0
xref: MESH:D000090122
is_a: DOID:0060903 ! thrombosis
is_a: DOID:865 ! vasculitis
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:0040100
name: Hirata disease
def: "An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10445096 "DO"]
synonym: "insulin autoimmune syndrome" EXACT []
is_a: DOID:0060005 ! autoimmune disease of endocrine system
is_a: DOID:225 ! syndrome
is_a: DOID:9993 ! hypoglycemia

[Term]
id: DOID:0040101
name: N,N'-diphenylthiourea allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28295200 "DO"]
synonym: "neoprene allergy" EXACT []
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:0040102
name: N,N'-diethylthiourea allergic contact dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28295200 "DO"]
synonym: "neoprene allergy" EXACT []
is_a: DOID:3042 ! allergic contact dermatitis
created_by: rgd
creation_date: 2018-06-20T00:00:00Z

[Term]
id: DOID:0040103
name: cefotiam allergy
def: "A cephalosporin allergy that has_allergic_trigger cefotiam. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28543395 "DO"]
is_a: DOID:0040021 ! cephalosporin allergy

[Term]
id: DOID:0040104
name: toluene 2,4-diisocyanate allergic asthma
def: "A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194110/ "DO"]
is_a: DOID:0040043 ! toluene meta-diisocyanate allergic asthma

[Term]
id: DOID:0050004
name: seminal vesicle acute gonorrhea
def: "A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection. (DO)" [https://en.wikipedia.org/wiki/Seminal_vesicle#Inflammation "DO"]
xref: RDO:9004909
is_a: DOID:10400 ! gonococcal seminal vesiculitis
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050012
name: chikungunya
def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. (DO)" [http://en.wikipedia.org/wiki/Chikungunya_virus "DO"]
synonym: "chikungunya fever" EXACT []
synonym: "Chikungunya Fevers" EXACT []
synonym: "Chikungunya Virus Infection" EXACT []
synonym: "Chikungunya Virus Infections" EXACT []
xref: GARD:6038
xref: MESH:D065632
is_a: DOID:9007339 ! Alphavirus Infections

[Term]
id: DOID:0050025
name: human granulocytic anaplasmosis
def: "An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25999228 "DO"]
synonym: "HGE" EXACT []
synonym: "human granulocytic ehrlichiosis" EXACT []
xref: EFO:0000777
is_a: DOID:10242 ! ehrlichiosis

[Term]
id: DOID:0050026
name: human monocytic ehrlichiosis
def: "An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. (DO)" [https://rarediseases.org/rare-diseases/human-monocytic-ehrlichiosis-hme/ "DO"]
synonym: "Ehrlichiosis chafeensis" RELATED []
xref: GARD:72
is_a: DOID:10242 ! ehrlichiosis

[Term]
id: DOID:0050032
name: mineral metabolism disease
def: "An acquired metabolic disease that is characterized by abnormal mineral metabolism. (DO)" [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html "DO"]
xref: EFO:0009556
xref: RDO:9003951
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:0060158 ! acquired metabolic disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0050035
name: African tick-bite fever
def: "A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. (DO)" [http://jcm.asm.org/cgi/reprint/42/2/816 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"]
synonym: "Rickettsia africae spotted fever" EXACT []
synonym: "South African tick-bite fever" EXACT []
is_a: DOID:11104 ! spotted fever
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:0050041
name: Astrakhan spotted fever
def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. (DO)" [http://books.google.com/books?id=dKlUARLKT9IC&pg=PA306&lpg=PA306&dq#v=onepage&q&f=false "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"]
is_a: DOID:11104 ! spotted fever
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:0050042
name: Indian tick typhus
def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. (DO)" [http://www.biomedcentral.com/1471-2180/5/11 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"]
is_a: DOID:11104 ! spotted fever
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:0050043
name: Israeli tick typhus
def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. (DO)" [http://www.biomedcentral.com/1471-2180/5/11 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"]
synonym: "Israeli spotted fever" EXACT []
is_a: DOID:11104 ! spotted fever
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:0050046
name: Far Eastern spotted fever
def: "A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. (DO)" [http://www.cdc.gov/eid/content/16/8/pdfs/1306.pdf "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"]
synonym: "Rickettsia heilongjiangensis spotted fever" EXACT []
is_a: DOID:11104 ! spotted fever
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:0050047
name: Flinders Island spotted fever
def: "A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. (DO)" [https://www.cdc.gov/otherspottedfever/imported/index.html "DO"]
synonym: "FISF" EXACT []
synonym: "Thai tick typhus" EXACT []
is_a: DOID:11104 ! spotted fever
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:0050050
name: Japanese spotted fever
def: "A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. (DO)" [http://www.cdc.gov/otherspottedfever/index.html "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf "DO"]
synonym: "oriental spotted fever" EXACT []
synonym: "Rickettsia japonica spotted fever" EXACT []
is_a: DOID:11104 ! spotted fever
created_by: rgd
creation_date: 2017-10-10T00:00:00Z

[Term]
id: DOID:0050051
name: Rickettsia parkeri spotted fever
def: "A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. (DO)" [http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"]
synonym: "maculatum infection" EXACT []
is_a: DOID:11104 ! spotted fever
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:0050052
name: Rocky Mountain spotted fever
def: "A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. (DO)" [http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"]
synonym: "Brazilian spotted" RELATED []
synonym: "Choix" RELATED []
synonym: "Exanthematic typhus of Sao Paulo" RELATED []
synonym: "Fiebre maculosa" RELATED []
synonym: "Fiebre manchada" RELATED []
synonym: "Sao Paulo Typhus" EXACT []
synonym: "So Paulo fever" RELATED []
synonym: "Tick typhus" EXACT []
synonym: "Tobia fever" RELATED []
xref: GARD:7585
xref: MESH:D012373
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:0050059
name: oropharyngeal anthrax
def: "A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3934300 "DO"]
is_a: DOID:13386 ! gastrointestinal anthrax

[Term]
id: DOID:0050061
name: erysipeloid
def: "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. (DO)" [https://en.wikipedia.org/wiki/Erysipeloid "DO"]
synonym: "erysipeloids" EXACT []
synonym: "Erysipelothrix rhusiopathiae infectious disease" EXACT []
xref: EFO:1000928
xref: MESH:D004887
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9006691 ! Erysipelothrix Infections

[Term]
id: DOID:0050072
name: adiaspiromycosis
def: "A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. (DO)" [http://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract "DO"]
xref: MESH:C000656784
is_a: DOID:0050134 ! cutaneous mycosis
is_a: DOID:0050292 ! primary systemic mycosis
is_a: DOID:37 ! skin disease
is_a: DOID:9005724 ! Fungal Lung Diseases
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:0050073
name: invasive aspergillosis
def: "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. (DO)" [http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm "DO"]
synonym: "Aspergilloses, Lung" EXACT []
synonym: "Bronchopulmonary Aspergillose" EXACT []
synonym: "Bronchopulmonary Aspergilloses" EXACT []
synonym: "Bronchopulmonary Aspergillosis" EXACT []
synonym: "Lung Aspergillosis" EXACT []
synonym: "pulmonary aspergilloses" EXACT []
synonym: "pulmonary aspergillosis" EXACT []
xref: MESH:D055732
is_a: DOID:13564 ! aspergillosis

[Term]
id: DOID:0050083
name: Keshan disease
def: "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency. (DO)" [https://en.wikipedia.org/wiki/Keshan_disease "DO"]
xref: GARD:8761
xref: MESH:C536166
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:5113 ! nutritional deficiency disease
is_a: DOID:9006549 ! Enterovirus Infections

[Term]
id: DOID:0050096
name: tinea barbae
def: "A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. (DO)" [https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-barbae "DO"]
synonym: "barber's itch" EXACT []
synonym: "beard ringworm" EXACT []
synonym: "dermatophytosis of beard" EXACT []
xref: MESH:C000656825
is_a: DOID:8913 ! dermatophytosis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0050097
name: ectothrix infectious disease
def: "A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft. (DO)" [https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-capitis "DO"]
is_a: DOID:4337 ! tinea capitis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0050105
name: endothrix infectious disease
def: "A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only. (DO)" [http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/ "DO"]
is_a: DOID:4337 ! tinea capitis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0050116
name: tinea imbricata
def: "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. (DO)" [https://www.sciencedirect.com/topics/medicine-and-dentistry/tinea-imbricata "DO"]
synonym: "tinea imbricata, susceptibility to" RELATED []
xref: MIM:275240
is_a: DOID:12179 ! tinea corporis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0050117
name: disease by infectious agent
def: "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. (DO)" [http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C26726 "DO"]
synonym: "communicable disease" EXACT []
synonym: "communicable diseases" EXACT []
synonym: "infection" EXACT []
synonym: "infections" EXACT []
synonym: "infectious disease" EXACT []
synonym: "infectious diseases" EXACT []
synonym: "recurrent infections" NARROW []
xref: EFO:0000544
xref: EFO:0005741
xref: ICD9CM:079.0
xref: MESH:D003141
xref: MESH:D007239
is_a: DOID:4 ! disease

[Term]
id: DOID:0050118
name: La Crosse encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. (DO)" [http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO"]
synonym: "California encephalitis" EXACT []
synonym: "California viral encephalitides" EXACT []
synonym: "California viral encephalitis" EXACT []
synonym: "California virus encephalitis" EXACT []
synonym: "neuroinvasive California encephalitis virus infection" EXACT []
xref: ICD10CM:A83.5
xref: ICD9CM:062.5
xref: MESH:D004670
is_a: DOID:9004137 ! Bunyaviridae Infections
is_a: DOID:9008926 ! Arbovirus Encephalitis

[Term]
id: DOID:0050120
name: hemophagocytic lymphohistiocytosis
def: "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. (DO)" [http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis "DO", http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso "DO"]
synonym: "haemophagocytic syndrome" EXACT []
synonym: "hemophagocytic lymphohistiocytoses" EXACT []
synonym: "hemophagocytic syndrome" EXACT []
synonym: "hemophagocytic syndromes" EXACT []
synonym: "HPLH" EXACT []
synonym: "HPS" EXACT []
synonym: "infection-associated hemophagocytic syndrome" EXACT []
synonym: "primary hemophagocytic hymphohistiocytosis" EXACT []
synonym: "primary hemophagocytic lymphohistiocytosis" EXACT []
synonym: "reactive hemophagocytic syndrome" EXACT []
xref: GARD:6589
xref: ICD10CM:D76.1
xref: MESH:D051359
xref: MIM:PS267700
xref: NCI:C34792
xref: ORDO:540
is_a: DOID:4330 ! non-Langerhans-cell histiocytosis

[Term]
id: DOID:0050125
name: dengue shock syndrome
def: "A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. (DO)" [http://en.wikipedia.org/wiki/Dengue_shock_syndrome "DO"]
synonym: "DSS" EXACT []
is_a: DOID:12206 ! dengue hemorrhagic fever
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050127
name: sinusitis
def: "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35024&ns=NCI_Thesaurus&key=1218436475&b=1&n=null "DO"]
synonym: "Sinusitides" EXACT []
xref: EFO:0007486
xref: ICD10CM:J01
xref: ICD9CM:461
xref: MESH:D012852
xref: NCI:C128411
is_a: DOID:1352 ! paranasal sinus disease
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:0050129
name: secretory diarrhea
def: "A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"]
is_a: DOID:13250 ! diarrhea
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050130
name: osmotic diarrhea
def: "A dirrhea that occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"]
is_a: DOID:13250 ! diarrhea
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050131
name: motility-related diarrhea
def: "A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"]
is_a: DOID:13250 ! diarrhea
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050132
name: inflammatory diarrhea
def: "A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"]
xref: RDO:9002488
is_a: DOID:13250 ! diarrhea
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:0050133
name: superficial mycosis
def: "A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. (DO)" [http://en.wikipedia.org/wiki/Mycoses "DO", http://www.mycology.adelaide.edu.au/Mycoses/ "DO"]
synonym: "piedra" EXACT []
synonym: "piedras" EXACT []
synonym: "steroid-modified tinea infection" EXACT []
xref: ICD10CM:B36.9
xref: MESH:D010854
is_a: DOID:1564 ! fungal infectious disease
is_a: DOID:421 ! hair disease

[Term]
id: DOID:0050134
name: cutaneous mycosis
def: "A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. (DO)" [http://en.wikipedia.org/wiki/Mycoses "DO", http://jama.ama-assn.org/cgi/reprint/61/6/407 "DO"]
is_a: DOID:1564 ! fungal infectious disease
is_a: DOID:16 ! integumentary system disease
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:0050135
name: subcutaneous mycosis
def: "A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. (DO)" [https://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses "DO"]
xref: MONDO:0000255
is_a: DOID:1564 ! fungal infectious disease
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:0050136
name: systemic mycosis
def: "A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. (DO)" [http://dermnetnz.org/fungal/systemic-mycoses.html "DO", http://www.mycology.adelaide.edu.au/Mycoses/ "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006 "DO"]
is_a: DOID:1564 ! fungal infectious disease
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:0050138
name: podoconiosis
def: "An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits. (DO)" [https://en.wikipedia.org/wiki/Podoconiosis "DO"]
synonym: "mossy foot" EXACT []
synonym: "non-filarial elephantiasis" EXACT []
synonym: "PDCOS" EXACT []
synonym: "podoconioses" EXACT []
xref: EFO:0004712
xref: MIM:614590
is_a: DOID:4976 ! elephantiasis

[Term]
id: DOID:0050140
name: acute diarrhea
def: "A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. (DO)" [http://en.wikipedia.org/wiki/Diarrhea "DO"]
is_a: DOID:13250 ! diarrhea
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050141
name: intestinal botulism
def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins. (DO)" [http://www.who.int/mediacentre/factsheets/fs270/en/ "DO", https://jnnp.bmj.com/content/75/suppl_3/iii35 "DO"]
is_a: DOID:11976 ! botulism
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0050143
name: asymptomatic dengue
def: "A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28107858/ "DO", https://pubmed.ncbi.nlm.nih.gov/29111183/ "DO"]
is_a: DOID:12205 ! dengue disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050144
name: Kartagener syndrome
def: "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. (DO)" [http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome "DO", http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84797 "DO", http://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19529061 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23243352 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24019633 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25633235 "DO"]
synonym: "dextrocardia, bronchiectasis, and sinusitis" EXACT []
synonym: "immotile cilia syndrome, Kartagener type" EXACT []
synonym: "Kartagener's syndrome" EXACT []
synonym: "Kartagener's Triad" EXACT []
synonym: "Kartageners syndrome" EXACT []
synonym: "Kartageners triad" EXACT []
synonym: "Kartagener triad" EXACT []
synonym: "primary ciliary dyskinesia, Kartagener type" EXACT []
synonym: "Siewert syndrome" EXACT []
xref: EFO:1001352
xref: GARD:6815
xref: MESH:D007619
xref: NCI:C84797
xref: ORDO:98861
is_a: DOID:9007870 ! Respiratory System Abnormalities
is_a: DOID:9562 ! primary ciliary dyskinesia
is_a: DOID:9563 ! bronchiectasis
is_a: DOID:9565 ! dextrocardia

[Term]
id: DOID:0050145
name: adenoiditis
def: "An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing. (DO)" [http://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false "DO", http://en.wikipedia.org/wiki/Adenoiditis "DO"]
synonym: "chronic adenoiditis" EXACT []
xref: ICD10CM:J35.02
xref: ICD9CM:474.01
xref: RDO:9004975
is_a: DOID:974 ! upper respiratory tract disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0050147
name: otomycosis
def: "An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. (DO)" [http://en.wikipedia.org/wiki/Otomycosis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otomycosis "DO"]
synonym: "otomycoses" EXACT []
synonym: "Singapore ear" EXACT []
xref: MESH:D059249
is_a: DOID:1564 ! fungal infectious disease
is_a: DOID:9463 ! otitis externa

[Term]
id: DOID:0050148
name: laryngotracheitis
def: "An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngotracheitis "DO"]
xref: ICD10CM:J04
xref: ICD10CM:J37.1
xref: ICD9CM:464
xref: ICD9CM:476.1
is_a: DOID:974 ! upper respiratory tract disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0050150
name: Pontiac fever
def: "A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. (DO)" [http://www.cdc.gov/legionella/patient_facts.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/623097 "DO"]
is_a: DOID:10458 ! legionellosis
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:0050152
name: aspiration pneumonia
def: "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. (DO)" [https://en.wikipedia.org/wiki/Aspiration_pneumonia "DO"]
synonym: "Acid Aspiration Syndrome" EXACT []
synonym: "acid aspiration syndromes" EXACT []
synonym: "Aspiration Pneumonias" EXACT []
synonym: "Gastric Acid Aspiration Syndrome" EXACT []
synonym: "Mendelson's Syndrome" EXACT []
synonym: "Mendelsons Syndrome" EXACT []
synonym: "Mendelson syndrome" EXACT []
xref: MESH:D011015
is_a: DOID:874 ! bacterial pneumonia

[Term]
id: DOID:0050153
name: pulmonary aspergilloma
def: "An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. (DO)" [http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm "DO"]
xref: EFO:1001834
xref: RDO:9002381
is_a: DOID:0050073 ! invasive aspergillosis
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:0050155
name: sensory system disease
alt_id: DOID:9003045
def: "A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). (DO)" [http://en.wikipedia.org/wiki/Sensory_system "DO"]
synonym: "disturbances of sensation of smell and taste" NARROW []
synonym: "Sensation Disorder" EXACT []
synonym: "Sensation Disorders" EXACT []
synonym: "Sensory Disorder" EXACT []
synonym: "Sensory Disorders" EXACT []
synonym: "sensory system diseases" EXACT []
synonym: "Special Senses Disorder" EXACT []
synonym: "Special Senses Disorders" EXACT []
xref: EFO:0001058
xref: EFO:0009543
xref: MESH:D012678
is_a: DOID:4 ! disease
is_a: DOID:863 ! nervous system disease
is_a: DOID:9003814 ! Neurologic Manifestations
created_by: rgd
creation_date: 2017-04-18T00:00:00Z

[Term]
id: DOID:0050156
name: idiopathic pulmonary fibrosis
def: "A pulmonary fibrosis that is characterized by scarring of the lung characterized by  stiffness in the lungs and makes it difficult to breathe. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32855221/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK448162/ "DO", https://www.nhlbi.nih.gov/health/idiopathic-pulmonary-fibrosis "DO", https://www.pulmonaryfibrosis.org/life-with-pf/about-ipf "DO"]
synonym: "cryptogenic fibrosing alveolitides" EXACT []
synonym: "cryptogenic fibrosing alveolitis" EXACT []
synonym: "familial idiopathic pulmonary fibrosis" EXACT []
synonym: "fibrocystic pulmonary dysplasia" EXACT []
synonym: "fibrocystic pulmonary dysplasias" EXACT []
synonym: "Hamman Rich disease" NARROW []
synonym: "Hamman-Rich diseases" NARROW []
synonym: "Idiopathic Fibrosing Alveolitis, Chronic Form" EXACT []
synonym: "idiopathic pulmonary fibroses" EXACT []
synonym: "idiopathic pulmonary fibrosis, susceptibility to" RELATED []
synonym: "IPF" EXACT []
synonym: "UIP Hamman Rich disease" NARROW []
synonym: "usual interstitial pneumonia" RELATED []
synonym: "usual interstitial pneumonias" RELATED []
synonym: "usual interstitial pneumonitides" RELATED []
synonym: "usual interstitial pneumonitis" RELATED []
xref: EFO:0000768
xref: GARD:8609
xref: ICD10CM:J84.112
xref: ICD9CM:516.31
xref: MESH:D054990
xref: MIM:178500
xref: NCI:C35715
xref: NCI:C35716
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3770 ! pulmonary fibrosis

[Term]
id: DOID:0050157
name: cryptogenic organizing pneumonia
def: "An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. (DO)" [http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh "DO", https://www.ncbi.nlm.nih.gov/pubmed/11790668 "DO"]
synonym: "BOOP" EXACT []
synonym: "bronchiolitis obliterans organising pneumonia" EXACT []
synonym: "bronchiolitis obliterans organizing pneumonia" EXACT []
synonym: "cryptogenic organising pneumonia" EXACT []
synonym: "Cryptogenic organising pneumonitis" EXACT []
synonym: "Cryptogenic Organizing Pneumonias" EXACT []
synonym: "cryptogenic organizing pneumonitis" EXACT []
synonym: "idiopathic bronchiolitis obliterans with organising pneumonia" EXACT []
synonym: "idiopathic bronchiolitis obliterans with organizing pneumonia" EXACT []
xref: EFO:1001300
xref: GARD:1620
xref: ICD10CM:J84.116
xref: ICD9CM:516.36
xref: MESH:D018549
xref: NCI:C62586
is_a: DOID:2797 ! idiopathic interstitial pneumonia
is_a: DOID:9003073 ! Organizing Pneumonia

[Term]
id: DOID:0050158
name: desquamative interstitial pneumonia
alt_id: MIM:263000
def: "An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. (DO)" [http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C35288 "DO", http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh "DO", https://www.ncbi.nlm.nih.gov/pubmed/11790668 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16142185 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16456642 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23001799 "DO"]
synonym: "DIP" EXACT []
synonym: "familial desquamative interstitial pneumonia" EXACT []
synonym: "familial desquamative interstitial pneumonitis" EXACT []
synonym: "ILD, DESQUAMATIVE" EXACT []
synonym: "Interstitial Lung Disease, Desquamative" EXACT []
synonym: "RBILD" EXACT []
synonym: "respiratory bronchiolitis-associated interstitial lung disease" EXACT []
xref: ICD10CM:J84.117
xref: ICD9CM:516.37
xref: MESH:C562470
xref: NCI:C35288
is_a: DOID:2797 ! idiopathic interstitial pneumonia
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0050159
name: lymphoid interstitial pneumonia
def: "An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11790668 "DO"]
synonym: "lymphocytic interstitial pneumonia" EXACT []
synonym: "lymphocytic interstitial pneumonitis" EXACT []
xref: ICD10CM:J84.2
xref: MESH:C562489
xref: MIM:247610
xref: MONDO:0009537
xref: NCI:C27558
xref: ORDO:79128
is_a: DOID:2797 ! idiopathic interstitial pneumonia

[Term]
id: DOID:0050160
name: inhalation anthrax
def: "An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. (DO)" [https://medlineplus.gov/ency/article/001325.htm "DO", https://www.cdc.gov/anthrax/basics/types/index.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/11988441 "DO"]
synonym: "pulmonary anthrax" EXACT []
synonym: "respiratory anthrax" EXACT []
synonym: "wool-sorters' disease" EXACT []
synonym: "woolsorters' disease" EXACT []
xref: MESH:C571912
is_a: DOID:7427 ! anthrax disease

[Term]
id: DOID:0050161
name: lower respiratory tract disease
def: "A respiratory system disease which involves the lower respiratory tract. (DO)" [http://en.wikipedia.org/wiki/lower_respiratory_tract "DO"]
xref: EFO:0009433
xref: RDO:9004972
is_a: DOID:1579 ! respiratory system disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0050166
name: tuberculous salpingitis
def: "An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. (DO)" [http://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false "DO"]
xref: ICD10CM:A18.17
xref: ICD9CM:016.6
is_a: DOID:1962 ! fallopian tube disease
is_a: DOID:2149 ! urogenital tuberculosis

[Term]
id: DOID:0050167
name: autoimmune polyendocrine syndrome type 1
alt_id: MIM:240300
def: "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. (DO)" [https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1 "DO"]
synonym: "APS1" EXACT []
synonym: "APS I" EXACT []
synonym: "APS type 1" EXACT []
synonym: "autoimmune polyendocrine syndrome type I, with or without reversible metaphyseal dysplasia" EXACT []
synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" EXACT []
synonym: "autoimmune polyendocrinopathy syndrome type 1" EXACT []
synonym: "autoimmune polyendocrinopathy syndrome type I" EXACT []
synonym: "autoimmune polyendocrinopathy syndrome type I, autosomal dominant" EXACT []
synonym: "autoimmune polyendocrinopathy syndrome type I, with reversible metaphyseal dysplasia" EXACT []
synonym: "autoimmune polyglandular syndrome I" EXACT []
synonym: "autoimmune polyglandular syndrome type 1" EXACT []
synonym: "autoimmune polyglandular syndrome type I" EXACT []
synonym: "hypoadrenocorticism with hypoparathyroidism and superficial moniliasis" EXACT []
synonym: "PGA I" EXACT []
synonym: "polyglandular deficiency syndrome, Persian-Jewish type" NARROW []
synonym: "Whitaker syndrome" EXACT []
xref: GARD:8466
xref: MESH:C538275
is_a: DOID:14040 ! autoimmune polyendocrine syndrome

[Term]
id: DOID:0050168
name: autoimmune polyendocrine syndrome type 2
def: "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. (DO)" [http://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2 "DO"]
synonym: "APS2" EXACT []
synonym: "autoimmune polyendocrine syndrome type II" EXACT []
synonym: "autoimmune polyglandular syndrome type II" EXACT []
synonym: "multiple endocrine deficiency syndrome, type 2" EXACT []
synonym: "polyglandular autoimmune syndrome, type 2" EXACT []
synonym: "polyglandular deficiency syndrome, type 2" EXACT []
synonym: "Schmidt's syndrome" EXACT []
synonym: "Schmidt syndrome" EXACT []
xref: GARD:7611
xref: MIM:269200
is_a: DOID:14040 ! autoimmune polyendocrine syndrome
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0050169
name: cutaneous lupus erythematosus
def: "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927537/ "DO"]
synonym: "subacute cutaneous lupus erythematosus" EXACT []
xref: EFO:0003834
xref: GARD:6225
xref: MESH:D008178
xref: MONDO:0005282
is_a: DOID:37 ! skin disease
is_a: DOID:65 ! connective tissue disease
is_a: DOID:8857 ! lupus erythematosus

[Term]
id: DOID:0050174
name: Kunjin encephalitis
def: "A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/2552010 "DO", https://www.health.nsw.gov.au/Infectious/factsheets/Pages/kunjin_virus.aspx "DO"]
is_a: DOID:2365 ! West Nile encephalitis

[Term]
id: DOID:0050175
name: tick-borne encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. (DO)" [http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/TBE.htm "DO"]
synonym: "Central European Encephalitis" EXACT []
synonym: "European Tick-Borne Encephalitides" EXACT []
synonym: "European Tick Borne Encephalitis" EXACT []
synonym: "Far Eastern Russian Encephalitis" EXACT []
synonym: "Far Eastern TBE" EXACT []
synonym: "Louping Ill Encephalitides" EXACT []
synonym: "Louping Ill Encephalitis" EXACT []
synonym: "Russian Spring Summer Encephalitis" EXACT []
synonym: "Siberian tick-borne encephalitis" EXACT []
synonym: "taiga encephalitis" EXACT []
synonym: "Tick-Borne Encephalitides" EXACT []
synonym: "Western European tick-borne encephalitis" EXACT []
synonym: "west-Siberian encephalitis" EXACT []
xref: EFO:1001309
xref: GARD:5216
xref: ICD10CM:A84.1
xref: ICD9CM:063.2
xref: MESH:D004675
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9004146 ! Flavivirus Infections
is_a: DOID:9008926 ! Arbovirus Encephalitis

[Term]
id: DOID:0050177
name: monogenic disease
def: "A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. (DO)" [https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders "DO"]
is_a: DOID:630 ! genetic disease
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:0050179
name: Powassan encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732952/ "DO"]
synonym: "Powassan Encephalitides" EXACT []
xref: RDO:9002648
is_a: DOID:0050175 ! tick-borne encephalitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0050185
name: erythema multiforme
def: "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000851.htm "DO"]
xref: EFO:1000694
xref: GARD:6372
xref: MESH:D004892
is_a: DOID:1205 ! allergic disease
is_a: DOID:2731 ! vesiculobullous skin disease
is_a: DOID:9006976 ! Erythema

[Term]
id: DOID:0050192
name: Nipah virus encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma. (DO)" [https://www.cdc.gov/vhf/nipah/index.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/19141846 "DO", https://www.who.int/csr/disease/nipah/en/ "DO"]
is_a: DOID:646 ! viral encephalitis
is_a: DOID:9001406 ! Henipavirus Infections

[Term]
id: DOID:0050194
name: Argentine hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. (DO)" [http://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever "DO", http://www.jstor.org/stable/30129873?seq=1 "DO"]
xref: RDO:9004295
is_a: DOID:9006665 ! Arenavirus hemorrhagic fever
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050195
name: Bolivian hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus machupoense, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. (DO)" [http://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm "DO"]
xref: MESH:D006478
is_a: DOID:3944 ! Arenaviridae infectious disease
is_a: DOID:9006665 ! Arenavirus hemorrhagic fever
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050196
name: Venezuelan hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus guanaritoense, which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34917387/ "DO", https://pubmed.ncbi.nlm.nih.gov/7840443/ "DO"]
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050197
name: Brazilian hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus brazilense, which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. (DO)" [http://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7905555 "DO"]
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050198
name: Chapare hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus chapareense. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 "DO"]
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050199
name: Whitewater Arroyo hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus whitewaterense, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. (DO)" [http://jama.ama-assn.org/cgi/content/full/284/10/1237 "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/1799746 "DO"]
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050200
name: Korean hemorrhagic fever
def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. (DO)" [http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false "DO", http://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/1349231 "DO"]
is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0050201
name: nephropathia epidemica
def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1349231 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2574903 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2902106 "DO"]
is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0050202
name: lujo hemorrhagic fever
def: "A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/19478873 "DO"]
xref: RDO:9004301
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050204
name: Epstein-Barr virus hepatitis
def: "A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16711324 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17602362 "DO"]
is_a: DOID:2938 ! Epstein-Barr virus infectious disease
is_a: DOID:9007329 ! Human Viral Hepatitis
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:0050211
name: swine influenza
def: "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. (DO)" [http://www.cdc.gov/flu/swineflu/key_facts.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/9140195 "DO"]
xref: EFO:0005226
xref: RDO:9002858
is_a: DOID:8469 ! influenza
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050214
name: Lambert-Eaton myasthenic syndrome
def: "A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. (DO)" [http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome "DO"]
synonym: "Eaton-Lambert Myasthenic-Myopathic Syndrome" EXACT []
synonym: "Eaton-Lambert Myopathic-Myasthenic Syndromes" EXACT []
synonym: "Eaton Lambert Syndrome" EXACT []
synonym: "LEMS" EXACT []
synonym: "myasthenic-myopathic syndrome of Eaton Lambert" EXACT []
xref: ICD10CM:G70.80
xref: ICD9CM:358.3
xref: MESH:D015624
xref: NCI:C3155
is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system
is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system
is_a: DOID:439 ! neuromuscular junction disease
is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes

[Term]
id: DOID:0050218
name: polycystic echinococcosis
def: "An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. (DO)" [http://en.wikipedia.org/wiki/Echinococcosis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm "DO"]
synonym: "human polycystic hydatid disease" EXACT []
synonym: "neotropical echinococcosis" EXACT []
xref: RDO:9002368
is_a: DOID:1496 ! echinococcosis
is_a: DOID:409 ! liver disease
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:0050222
name: selective IgM deficiency disease
def: "A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. (DO)" [http://en.wikipedia.org/wiki/IgM "DO", http://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency "DO"]
xref: RDO:9002617
is_a: DOID:11702 ! dysgammaglobulinemia
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0050242
name: primary amebic meningoencephalitis
def: "A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. (DO)" [http://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis "DO", http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm "DO"]
synonym: "Meningoencephalitis caused by Naegleria fowleri" EXACT []
synonym: "Naegleria fowleri infection" EXACT []
xref: GARD:9554
is_a: DOID:9002216 ! Central Nervous System Protozoal Infections
is_a: DOID:9181 ! amebiasis

[Term]
id: DOID:0050246
name: granulomatous amebic encephalitis
def: "A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm "DO"]
synonym: "acanthamoeba encephalitis" EXACT []
synonym: "acanthamoeba granulomatous encephalitis" EXACT []
synonym: "granulomatous amebic encephalitis due to acanthamoeba" EXACT []
synonym: "granulomatous amoebic encephalitis" EXACT []
xref: GARD:12651
is_a: DOID:0050242 ! primary amebic meningoencephalitis
is_a: DOID:9002366 ! Protozoan Encephalitis
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:0050250
name: philophthalmiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm "DO"]
is_a: DOID:5614 ! eye disease
is_a: DOID:888 ! fasciolopsiasis
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:0050251
name: coenurosis
def: "A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. (DO)" [https://en.wikipedia.org/wiki/Coenurosis "DO", https://www.cdc.gov/dpdx/coenurosis/index.html "DO"]
is_a: DOID:0050596 ! taeniasis
is_a: DOID:37 ! skin disease
is_a: DOID:9004805 ! Central Nervous System Parasitic Infections
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:0050253
name: mesocestoidiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm "DO"]
xref: RDO:9002492
is_a: DOID:9006970 ! Cestode Infections
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:0050254
name: acanthocephaliasis
def: "A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. (DO)" [https://www.cdc.gov/dpdx/acanthocephaliasis/index.html "DO"]
xref: RDO:9002493
is_a: DOID:9001455 ! Intestinal Helminthiasis
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:0050256
name: angiostrongyliasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. (DO)" [https://en.wikipedia.org/wiki/Angiostrongyliasis "DO"]
synonym: "abdominal angiostrongyliasis" EXACT []
synonym: "Angiostrongylus cantonensis infection" EXACT []
synonym: "Angiostrongylus costaricensis infection" EXACT []
synonym: "human eosinophilic meningitis" EXACT []
synonym: "Intravitreal angiostrongyliasis" EXACT []
synonym: "Parastrongylus costaricensis infection" EXACT []
synonym: "rat lungworm infection" EXACT []
xref: GARD:683
xref: MESH:C536369
is_a: DOID:9000928 ! Central Nervous System Helminthiasis
is_a: DOID:9001455 ! Intestinal Helminthiasis
is_a: DOID:9003369 ! Strongylida Infections
is_a: DOID:9004432 ! Parasitic Eye Infections

[Term]
id: DOID:0050259
name: baylisascariasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. (DO)" [https://en.wikipedia.org/wiki/Baylisascaris "DO"]
is_a: DOID:319 ! spinal cord disease
is_a: DOID:5614 ! eye disease
is_a: DOID:9001455 ! Intestinal Helminthiasis
is_a: DOID:936 ! brain disease
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:0050260
name: dioctophymiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm "DO"]
is_a: DOID:557 ! kidney disease
is_a: DOID:9000395 ! Ascaridida Infections
is_a: DOID:9007630 ! Parasitic Skin Diseases
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:0050261
name: thelaziasis
def: "A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm "DO"]
is_a: DOID:9002992 ! Nematode Infections
is_a: DOID:9004432 ! Parasitic Eye Infections
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:0050266
name: tungiasis
def: "A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. (DO)" [http://en.wikipedia.org/wiki/Tungiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm "DO"]
xref: EFO:1001445
xref: GARD:393
xref: MESH:D058285
is_a: DOID:4110 ! parasitic ectoparasitic infectious disease
is_a: DOID:9005296 ! Flea Infestations

[Term]
id: DOID:0050268
name: ophthalmomyiasis
def: "A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. (DO)" [http://en.wikipedia.org/wiki/Myiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm "DO"]
is_a: DOID:11080 ! myiasis
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:0050269
name: Trichomonas vaginalis trichomoniasis
def: "A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. (DO)" [http://en.wikipedia.org/wiki/Trichomoniasis "DO"]
synonym: "Trichomonas Vaginitides" EXACT []
synonym: "Trichomonas vaginitis" EXACT []
synonym: "urogenital trichomonas" EXACT []
xref: EFO:0007521
xref: ICD10CM:A59.00
xref: MESH:D014247
xref: NCI:C35083
is_a: DOID:1947 ! trichomoniasis
is_a: DOID:2059 ! vulvar disease
is_a: DOID:2170 ! vaginitis
is_a: DOID:2253 ! cervix disease
is_a: DOID:732 ! urethral disease

[Term]
id: DOID:0050270
name: Trichomonas tenax trichomoniasis
def: "A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222 "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/20427914 "DO"]
is_a: DOID:1947 ! trichomoniasis
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:0050278
name: basidiobolomycosis
def: "A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/ "DO"]
xref: RDO:9003673
is_a: DOID:0050135 ! subcutaneous mycosis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0050279
name: conidiobolomycosis
def: "An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/ "DO"]
xref: RDO:9003674
is_a: DOID:0050135 ! subcutaneous mycosis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0050288
name: penicilliosis
def: "An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/16418525 "DO"]
is_a: DOID:0050136 ! systemic mycosis
is_a: DOID:2473 ! opportunistic mycosis
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:0050289
name: fusariosis
def: "An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14748803 "DO"]
synonym: "disseminated fusarioses" EXACT []
synonym: "Disseminated Fusariosis" EXACT []
synonym: "Fusarioses" EXACT []
synonym: "Fusarium Infection" EXACT []
synonym: "Fusarium Infections" EXACT []
synonym: "Invasive Fusarioses" EXACT []
synonym: "Invasive Fusariosis" EXACT []
synonym: "Invasive Pulmonary Fusarioses" EXACT []
synonym: "Invasive Pulmonary Fusariosis" EXACT []
synonym: "Pulmonary Fusarioses" EXACT []
synonym: "pulmonary fusariosis" EXACT []
xref: EFO:1001795
xref: MESH:D060585
is_a: DOID:2473 ! opportunistic mycosis
is_a: DOID:9007316 ! Hyalohyphomycosis

[Term]
id: DOID:0050290
name: trichosporonosis
def: "An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. (DO)" [https://en.wikipedia.org/wiki/Trichosporonosis "DO"]
synonym: "disseminated trichosporonoses" EXACT []
synonym: "Disseminated Trichosporonosis" EXACT []
synonym: "Invasive Trichosporonoses" EXACT []
synonym: "Invasive Trichosporonosis" EXACT []
synonym: "Japanese Summer Type Hypersensitivity Pneumonitis" EXACT []
synonym: "Summer-Type Hypersensitivity Pneumonitides" EXACT []
synonym: "Summer Type Hypersensitivity Pneumonitis" EXACT []
synonym: "trichosporonoses" EXACT []
xref: MESH:D060586
is_a: DOID:2473 ! opportunistic mycosis
is_a: DOID:841 ! extrinsic allergic alveolitis

[Term]
id: DOID:0050291
name: parasitic Ichthyosporea infectious disease
def: "A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. (DO)" [http://en.wikipedia.org/wiki/Mesomycetozoea "DO"]
is_a: DOID:2789 ! parasitic protozoa infectious disease
is_a: DOID:9004157 ! Protozoan Infections, Animal
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:0050292
name: primary systemic mycosis
def: "A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/ "DO"]
is_a: DOID:0050136 ! systemic mycosis
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:0050304
name: aniseikonia
def: "A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes. (DO)" [https://en.wikipedia.org/wiki/Aniseikonia "DO"]
xref: EFO:1001266
xref: MESH:D000839
is_a: DOID:9835 ! refractive error

[Term]
id: DOID:0050308
name: Alkhurma hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever. (DO)" [http://en.wikipedia.org/wiki/Alkhurma_virus "DO"]
is_a: DOID:11320 ! Kyasanur forest disease

[Term]
id: DOID:0050328
name: congenital hypothyroidism
alt_id: MIM:228355
def: "A hypothyroidism that is present at birth. (DO)" [http://en.wikipedia.org/wiki/Congenital_hypothyroidism "DO", http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism "DO"]
synonym: "congenital myxedema" EXACT []
synonym: "Cretinism" EXACT []
synonym: "Endemic Cretinism" EXACT []
synonym: "experimental congenital hypothyroidism" NARROW []
synonym: "Fetal Iodine Deficiency Disorder" EXACT []
xref: GARD:1487
xref: ICD10CM:E00.1
xref: ICD9CM:243
xref: MESH:D003409
xref: MIM:PS275200
xref: NCI:C26734
xref: NCI:C98921
is_a: DOID:0080015 ! physical disorder
is_a: DOID:1459 ! hypothyroidism
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9007819 ! Endocrine Bone Diseases

[Term]
id: DOID:0050331
name: lacrimoauriculodentodigital syndrome 1
alt_id: DOID:9004849
def: "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. (DO)" [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome "DO"]
synonym: "Lacrimo-auriculo-dento-digital syndrome 1" EXACT []
synonym: "LADD1" EXACT []
synonym: "LADD Syndrome 1" EXACT []
synonym: "Levy Hollister syndrome" EXACT []
xref: MIM:149730
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081370 ! LADD syndrome

[Term]
id: DOID:0050332
name: enlarged vestibular aqueduct
def: "A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts. (DO)" [https://en.wikipedia.org/wiki/Enlarged_vestibular_aqueduct "DO"]
synonym: "EVA" EXACT []
synonym: "large vestibular aqueduct" EXACT []
xref: GARD:8651
xref: RDO:9003730
is_a: DOID:3426 ! vestibular disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0050335
name: bradyopsia
def: "A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. (DO)" [https://medlineplus.gov/genetics/condition/bradyopsia/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/17826834 "DO"]
synonym: "PERRS" EXACT []
synonym: "prolonged electroretinal response suppression" EXACT []
xref: GARD:12299
xref: MESH:C564243
xref: MIM:PS608415
xref: ORDO:75374
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5679 ! retinal disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0050336
name: hypophosphatemia
def: "A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis. (DO)" [https://en.wikipedia.org/wiki/Hypophosphatemia "DO"]
synonym: "hypophosphatemias" EXACT []
xref: MESH:D017674
is_a: DOID:2485 ! phosphorus metabolism disease

[Term]
id: DOID:0050338
name: primary bacterial infectious disease
alt_id: DOID:13238
def: "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. (DO)" [http://en.wikipedia.org/wiki/Infectious_disease "DO"]
synonym: "primary bacterial infectious diseases" EXACT []
is_a: DOID:104 ! bacterial infectious disease

[Term]
id: DOID:0050339
name: commensal bacterial infectious disease
def: "A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. (DO)" [https://www.microbiologyinpictures.com/introduction.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/24727150 "DO"]
xref: RDO:9002545
is_a: DOID:104 ! bacterial infectious disease

[Term]
id: DOID:0050340
name: opportunistic bacterial infectious disease
def: "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545 "DO"]
is_a: DOID:104 ! bacterial infectious disease
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:0050352
name: foodborne botulism
def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis. (DO)" [https://www.southernnevadahealthdistrict.org/Health-Topics/foodborne-botulism/ "DO"]
is_a: DOID:11976 ! botulism
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0050353
name: wound botulism
def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. (DO)" [http://www.who.int/mediacentre/factsheets/fs270/en/ "DO"]
synonym: "wound botulisms" EXACT []
xref: MONDO:0015803
is_a: DOID:11976 ! botulism
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0050354
name: infant botulism
def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. (DO)" [https://www.aafp.org/afp/2002/0401/p1388.html "DO"]
synonym: "infantile botulism" EXACT []
is_a: DOID:11976 ! botulism
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0050382
name: glandular tularemia
def: "A tularemia that results_in swelling of regional lymph glands. (DO)" [http://www.cdc.gov/tularemia/signssymptoms/ "DO"]
is_a: DOID:2123 ! tularemia
is_a: DOID:75 ! lymphatic system disease
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050383
name: typhoidal tularemia
def: "A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29635071 "DO"]
is_a: DOID:2123 ! tularemia
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050387
name: nonpapillary renal cell carcinoma
def: "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2921777 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8415591 "DO"]
is_a: DOID:4455 ! hereditary renal cell carcinoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:0050398
name: Carrion's disease
def: "A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. (DO)" [http://en.wikipedia.org/wiki/Carrion%27s_disease "DO"]
synonym: "Carrion disease" EXACT []
synonym: "Carrions disease" EXACT []
synonym: "Oroya fever" EXACT []
xref: RDO:9002611
is_a: DOID:11102 ! bartonellosis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0050419
name: complement factor I deficiency
alt_id: MIM:610984
def: "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency. (DO)" [https://www.omim.org/entry/610984 "DO"]
synonym: "C3G2" EXACT []
synonym: "C3 glomerulopathy 2" EXACT []
synonym: "C3 inactivator deficiency" EXACT []
synonym: "CFID" EXACT []
synonym: "complement component 3 inactivator deficiency" EXACT []
xref: MESH:C572568
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:0050424
name: familial adenomatous polyposis
def: "An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. (DO)" [http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis "DO", http://www.omim.org/entry/175100?search=adenomatous%20polyposis "DO"]
synonym: "AAPC" NARROW []
synonym: "adenomatous colonic polyposis" EXACT []
synonym: "adenomatous intestinal polyposes" EXACT []
synonym: "Adenomatous Intestinal Polyposis" EXACT []
synonym: "Adenomatous Polyposis Coli" EXACT []
synonym: "ADENOMATOUS POLYPOSIS COLI, ATTENUATED" NARROW []
synonym: "Adenomatous Polyposis Colus" EXACT []
synonym: "Adenomatous Polyposis of the Colon" EXACT []
synonym: "APC" EXACT []
synonym: "APC-associated polyposis disorders" BROAD []
synonym: "BRAIN TUMOR-POLYPOSIS SYNDROME 2" NARROW []
synonym: "BTPS2" NARROW []
synonym: "CLASSIC OR ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS" BROAD []
synonym: "Familial Adenomatous Polyposes" EXACT []
synonym: "Familial Adenomatous Polyposis Coli" EXACT []
synonym: "Familial Adenomatous Polyposis of the Colon" EXACT []
synonym: "Familial Intestinal Polyposes" EXACT []
synonym: "Familial Intestinal Polyposis" EXACT []
synonym: "Familial Multiple Polyposes" EXACT []
synonym: "Familial Multiple Polyposi" EXACT []
synonym: "Familial Multiple Polyposis" EXACT []
synonym: "Familial Multiple Polyposis Syndrome" EXACT []
synonym: "Familial Multiple Polyposus" EXACT []
synonym: "Familial Polyposis Coli" EXACT []
synonym: "Familial Polyposis Colus" EXACT []
synonym: "Familial Polyposis of the Colon" EXACT []
synonym: "Familial Polyposis Syndrome" EXACT []
synonym: "Familial Polyposis Syndromes" EXACT []
synonym: "FPC" EXACT []
synonym: "HEREDITARY MIXED POLYPOSIS" NARROW []
synonym: "Hereditary Polyposis Coli" EXACT []
synonym: "Hereditary Polyposis Colus" EXACT []
synonym: "MYH-associated polyposes" BROAD []
synonym: "MYH-associated polyposis" BROAD []
synonym: "polymerase proofreading-related adenomatous polyposis" NARROW []
synonym: "polyposis coli" EXACT []
synonym: "polyposis colus" EXACT []
xref: EFO:1000633
xref: GARD:6408
xref: MESH:D011125
xref: MIM:PS175100
xref: NCI:C3339
xref: ORDO:733
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:6225 ! Cronkhite-Canada syndrome
is_a: DOID:9001441 ! Adenomatous Polyps
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes
is_a: DOID:9008443 ! Colorectal Neoplasms

[Term]
id: DOID:0050425
name: restless legs syndrome
alt_id: MIM:610438
alt_id: MIM:610439
alt_id: MIM:611185
alt_id: MIM:611242
alt_id: MIM:612853
alt_id: MIM:615197
def: "A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. (DO)" [http://en.wikipedia.org/wiki/Restless_legs_syndrome "DO", http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm "DO"]
synonym: "Ekbom syndrome" EXACT []
synonym: "hereditary acromelalgia" EXACT []
synonym: "PERIODIC LIMB MOVEMENTS IN SLEEP" EXACT []
synonym: "Restless Legs" EXACT []
synonym: "restless legs syndrome, susceptibility to, 3" RELATED []
synonym: "restless legs syndrome, susceptibility to, 4" RELATED []
synonym: "restless legs syndrome, susceptibility to, 5" RELATED []
synonym: "restless legs syndrome, susceptibility to, 6" RELATED []
synonym: "restless legs syndrome, susceptibility to, 7" RELATED []
synonym: "restless legs syndrome, susceptibility to, 8" RELATED []
synonym: "Restless Leg Syndrome" EXACT []
synonym: "RLS3" RELATED []
synonym: "RLS4" RELATED []
synonym: "RLS5" RELATED []
synonym: "RLS6" RELATED []
synonym: "RLS7" RELATED []
synonym: "RLS8" RELATED []
synonym: "WED" EXACT []
synonym: "Willis Ekbom Disease" EXACT []
synonym: "Willis Ekbom Syndrome" EXACT []
synonym: "Wittmaack Ekbom syndrome" EXACT []
xref: EFO:0004270
xref: GARD:11926
xref: ICD10CM:G25.81
xref: ICD9CM:333.94
xref: MESH:D012148
xref: MIM:PS102300
xref: NCI:C84501
is_a: DOID:225 ! syndrome
is_a: DOID:9000166 ! Intrinsic Sleep Disorders
is_a: DOID:9004040 ! Parasomnias

[Term]
id: DOID:0050426
name: Stevens-Johnson syndrome
alt_id: MIM:608579
def: "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. (DO)" [https://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome "DO"]
synonym: "carbamazepine-induced hypersensitivity syndrome, susceptibility to" NARROW []
synonym: "drug-induced Stevens-Johnson syndrome" EXACT []
synonym: "Lyell's Syndrome" EXACT []
synonym: "Lyell's Syndromes" EXACT []
synonym: "Lyell Syndrome" EXACT []
synonym: "Mycoplasma Induced Stevens Johnson Syndrome" EXACT []
synonym: "Nonstaphylococcal Scalded Skin Syndrome" EXACT []
synonym: "SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO" EXACT []
synonym: "STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO" NARROW []
synonym: "Stevens Johnson Syndrome Toxic Epidermal Necrolysis" EXACT []
synonym: "Stevens Johnson Syndrome Toxic Epidermal Necrolysis Spectrum" EXACT []
synonym: "Toxic Epidermal Necrolyses" EXACT []
synonym: "toxic epidermal necrolysis" EXACT []
synonym: "toxic epidermal necrolysis, susceptibility to" NARROW []
xref: EFO:0004276
xref: EFO:0004775
xref: GARD:7700
xref: ICD10CM:L51.1
xref: ICD9CM:695.13
xref: MESH:D013262
xref: NCI:C79484
xref: NCI:C79777
is_a: DOID:0050185 ! erythema multiforme
is_a: DOID:225 ! syndrome
is_a: DOID:9005236 ! Drug Eruptions
is_a: DOID:9637 ! stomatitis

[Term]
id: DOID:0050427
name: xeroderma pigmentosum
def: "A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. (DO)" [http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract "DO"]
synonym: "Kaposi's disease" EXACT []
synonym: "Kaposi disease" EXACT []
synonym: "Kaposis disease" EXACT []
xref: GARD:7910
xref: MESH:D014983
xref: NCI:C3452
xref: ORDO:910
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060071 ! pre-malignant neoplasm
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:225 ! syndrome
is_a: DOID:3159 ! photosensitivity disease
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders

[Term]
id: DOID:0050428
name: nonepidermolytic palmoplantar keratoderma
def: "A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. (DO)" [http://en.wikipedia.org/wiki/Palmoplantar_keratoderma "DO"]
synonym: "diffuse nonepidermolytic palmomplantar keratoderma" NARROW []
synonym: "diffuse nonepidermolytic palmoplantar keratoderma" NARROW []
synonym: "diffuse orthohyperkeratotic keratoderma" NARROW []
synonym: "keratosis palmoplantaris diffusa circumscripta" NARROW []
synonym: "NEPPK" EXACT []
synonym: "NONEPIDERMOLYTIC PALMOPLANTAR HYPERKERATOSIS" EXACT []
synonym: "PPKNE" EXACT []
synonym: "Thost-Unna Syndrome" EXACT []
synonym: "Unna-Thost Syndrome" EXACT []
xref: EFO:1000743
xref: MESH:C563422
is_a: DOID:3390 ! palmoplantar keratosis

[Term]
id: DOID:0050429
name: Hailey-Hailey disease
alt_id: MIM:169600
def: "A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected. (DO)" [https://rarediseases.org/rare-diseases/hailey-hailey-disease/ "DO"]
synonym: "BCPM" EXACT []
synonym: "benign chronic pemphigus" EXACT []
synonym: "benign familial pemphigus" EXACT []
synonym: "familial benign chronic pemphigus" EXACT []
synonym: "HHD" EXACT []
xref: GARD:6559
xref: MESH:D016506
xref: NCI:C82865
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9182 ! pemphigus

[Term]
id: DOID:0050430
name: multiple endocrine neoplasia type 2A
alt_id: MIM:171400
def: "A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. (DO)" [http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO", http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/15965261 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract "DO"]
synonym: "familial medullary thyroid carcinoma" NARROW []
synonym: "FMTC AND UNCLASSIFIED" EXACT []
synonym: "MEA 2A" EXACT []
synonym: "MEA II" BROAD []
synonym: "MEA IIa" EXACT []
synonym: "MEN 2" BROAD []
synonym: "MEN 2a" EXACT []
synonym: "MEN2a" EXACT []
synonym: "MEN2A and Unclassified" RELATED []
synonym: "MEN 2A syndrome" EXACT []
synonym: "MEN-2A Syndromes" EXACT []
synonym: "MEN2 Disease" BROAD []
synonym: "MEN2 Phenotype: Unclassified" BROAD []
synonym: "MEN2 Phenotype: Unknown" BROAD []
synonym: "MEN II" BROAD []
synonym: "MEN IIa" EXACT []
synonym: "Multiple Endocrine Neoplasia 2" BROAD []
synonym: "multiple endocrine neoplasia II" BROAD []
synonym: "Multiple Endocrine Neoplasia Type 2" BROAD []
synonym: "Multiple Endocrine Neoplasia, Type IIa" EXACT []
synonym: "Multiple Endocrine Neoplasia, Type IIA, With Hirschsprung Disease" NARROW []
synonym: "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA" NARROW []
synonym: "Multiple Endocrine Neoplasms Type 2a" EXACT []
synonym: "Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma" EXACT []
synonym: "PTC syndrome" EXACT []
synonym: "Sipple syndrome" EXACT []
xref: ICD10CM:E31.22
xref: ICD9CM:258.02
xref: MESH:D018813
xref: NCI:C3226
xref: ORDO:247698
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3125 ! multiple endocrine neoplasia

[Term]
id: DOID:0050431
name: arrhythmogenic right ventricular cardiomyopathy
def: "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle. (DO)" [http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia "DO", http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy "DO", http://my.clevelandclinic.org/services/heart/disorders/arvd "DO", http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html "DO", https://pubmed.ncbi.nlm.nih.gov/31637441/ "DO"]
synonym: "ARRHYTHMOGENIC CARDIOMYOPATHY" BROAD []
synonym: "Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia" EXACT []
synonym: "Arrhythmogenic Right Ventricular Dysplasia" EXACT []
synonym: "ARVC" EXACT []
synonym: "ARVD" EXACT []
synonym: "ARVD-C" EXACT []
synonym: "CARDIOMYOPATHY, ARVC" EXACT []
synonym: "FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA" NARROW []
synonym: "right ventricular ACM" EXACT []
synonym: "right ventricular cardiomyopathy" EXACT []
synonym: "TAX1BP3-RELATED ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY" NARROW []
xref: EFO:0002631
xref: MESH:D019571
xref: MIM:PS107970
xref: MONDO:0016587
xref: NCI:C84571
xref: ORDO:217656
xref: ORDO:247
is_a: DOID:0060036 ! intrinsic cardiomyopathy
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:0050432
name: Asperger syndrome
alt_id: MIM:608631
alt_id: MIM:608638
alt_id: MIM:608781
alt_id: MIM:609954
def: "An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. (DO)" [http://en.wikipedia.org/wiki/Asperger_syndrome "DO", http://www.neurodevnet.ca "DO"]
synonym: "Asperger's Disease" EXACT []
synonym: "Asperger's diseases" EXACT []
synonym: "Asperger's disorder" EXACT []
synonym: "Asperger's syndrome" EXACT []
synonym: "Asperger disease" EXACT []
synonym: "Asperger diseases" EXACT []
synonym: "Asperger disorder" EXACT []
synonym: "Asperger disorders" EXACT []
synonym: "Aspergers disease" EXACT []
synonym: "Aspergers disorder" EXACT []
synonym: "Aspergers syndrome" EXACT []
synonym: "Asperger Syndrome, Susceptibility To, 1" RELATED []
synonym: "Asperger Syndrome, Susceptibility To, 2" RELATED []
synonym: "Asperger Syndrome, Susceptibility To, 3" RELATED []
synonym: "Asperger Syndrome, Susceptibility To, 4" RELATED []
synonym: "Asperger Syndrome, X-Linked, Susceptibility To, 1" RELATED []
synonym: "Asperger Syndrome, X-Linked, Susceptibility To, 2" RELATED []
synonym: "ASPG" EXACT []
synonym: "ASPG1" RELATED []
synonym: "ASPG2" RELATED []
synonym: "ASPG3" RELATED []
synonym: "ASPG4" RELATED []
synonym: "ASPGX1" RELATED []
synonym: "ASPGX2" RELATED []
xref: EFO:0003757
xref: GARD:5855
xref: ICD10CM:F84.5
xref: MESH:D020817
xref: MIM:PS608638
xref: MONDO:0005259
xref: NCI:C97159
xref: ORDO:1162
is_a: DOID:0060041 ! autism spectrum disorder
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0050433
name: fatal familial insomnia
alt_id: MIM:600072
def: "A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. (DO)" [https://en.wikipedia.org/wiki/Fatal_familial_insomnia "DO"]
synonym: "familial fatal insomnias" EXACT []
synonym: "FFI" EXACT []
xref: GARD:6429
xref: ICD10CM:A81.83
xref: ICD9CM:046.72
xref: MESH:D034062
xref: NCI:C84711
is_a: DOID:649 ! prion disease
is_a: DOID:9004576 ! Sleep Initiation and Maintenance Disorders

[Term]
id: DOID:0050434
name: Andersen-Tawil syndrome
alt_id: MIM:170390
def: "A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. (DO)" [http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome "DO", http://en.wikipedia.org/wiki/Long_QT_syndrome "DO"]
synonym: "Andersen cardiodysrhythmic periodic paralysis" EXACT []
synonym: "Andersen cardiodysrythmic periodic paralysis" EXACT []
synonym: "Andersen syndrome" EXACT []
synonym: "ATS" EXACT []
synonym: "long QT syndrome 7" EXACT []
synonym: "LQT7" EXACT []
synonym: "potassium-sensitive cardiodysrhythmic type" EXACT []
synonym: "potassium-sensitive cardiodysrhythmic type periodic paralysis" EXACT []
synonym: "potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features" EXACT []
xref: GARD:9453
xref: MESH:D050030
xref: NCI:C84559
xref: ORDO:37553
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0050436
name: mulibrey nanism
alt_id: MESH:C538604
alt_id: MIM:253250
def: "A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene. (DO)" [https://rarediseases.org/rare-diseases/mulibrey-nanism/ "DO"]
synonym: "MUL" EXACT []
synonym: "mulibrey growth disorder" EXACT []
synonym: "mulibrey nanism syndrome" EXACT []
synonym: "muscle liver brain eye nanism" EXACT []
synonym: "Perheentupa syndrome" EXACT []
synonym: "pericardial constriction and growth failure" EXACT []
synonym: "pericardial constriction with growth failure" EXACT []
synonym: "TRIM37-RELATED CONDITION" EXACT []
xref: GARD:95
xref: MESH:D050336
xref: NCI:C84906
xref: ORDO:2576
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0050437
name: Danon disease
alt_id: MIM:300257
def: "A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. (DO)" [https://rarediseases.org/rare-diseases/danon-disease/ "DO"]
synonym: "Antopol disease" EXACT []
synonym: "glycogen storage cardiomyopathies" EXACT []
synonym: "glycogen storage cardiomyopathy" EXACT []
synonym: "Glycogen Storage Disease IIb" EXACT []
synonym: "Glycogen Storage Disease Limited to the Heart" EXACT []
synonym: "Glycogen Storage Disease Type 2B" EXACT []
synonym: "glycogen storage disease type IIB" EXACT []
synonym: "GSD2B" EXACT []
synonym: "GSD IIb" EXACT []
synonym: "lysosomal glycogen storage disease with normal acid maltase" EXACT []
synonym: "lysosomal glycogen storage disease without acid maltase deficiency" EXACT []
synonym: "pseudoglycogenosis 2" EXACT []
synonym: "pseudoglycogenosis II" EXACT []
synonym: "X-linked vacuolar cardiomyopathy and myopathy" EXACT []
xref: EFO:1001333
xref: GARD:9730
xref: MESH:D052120
xref: NCI:C84735
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:2747 ! glycogen storage disease
is_a: DOID:3211 ! lysosomal storage disease
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:0050438
name: Frasier syndrome
alt_id: MIM:136680
def: "A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. (DO)" [https://ghr.nlm.nih.gov/condition/frasier-syndrome "DO"]
xref: GARD:2375
xref: MESH:D052159
xref: NCI:C122805
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:783 ! end stage renal disease
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development

[Term]
id: DOID:0050439
name: Usher syndrome
def: "A syndrome characterized by a combination of hearing loss and visual impairment. (DO)" [http://en.wikipedia.org/wiki/Usher_syndrome "DO"]
synonym: "dystrophia retinae pigmentosa dysostosis syndrome" EXACT []
synonym: "Graefe Usher syndrome" EXACT []
synonym: "Hallgren syndrome" EXACT []
synonym: "retinitis pigmentosa and congenital deafness" EXACT []
synonym: "Usher's syndrome" EXACT []
synonym: "Ushers syndrome" EXACT []
synonym: "Usher syndromes" EXACT []
xref: GARD:7843
xref: MESH:D052245
xref: MIM:PS276900
xref: NCI:C85217
xref: ORDO:886
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:225 ! syndrome
is_a: DOID:9005165 ! Deaf-Blind Disorders

[Term]
id: DOID:0050440
name: familial partial lipodystrophy
def: "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. (DO)" [http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy "DO", http://omim.org/entry/608600 "DO"]
synonym: "familial partial lipodystrophies" EXACT []
synonym: "Koberling Dunnigan Syndrome" EXACT []
synonym: "lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules" NARROW []
synonym: "reverse partial lipodystrophies" EXACT []
synonym: "reverse partial lipodystrophy" EXACT []
xref: GARD:11962
xref: MESH:D052496
xref: MIM:PS151660
xref: NCI:C84708
xref: ORDO:98306
is_a: DOID:0080299 ! partial lipodystrophy

[Term]
id: DOID:0050441
name: mucosulfatidosis
alt_id: MIM:272200
def: "A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency "DO"]
synonym: "juvenile sulfatidoses" EXACT []
synonym: "juvenile sulfatidosis" EXACT []
synonym: "MSD" EXACT []
synonym: "multiple sulfatase deficiencies" EXACT []
synonym: "multiple sulfatase deficiency" EXACT []
synonym: "multiple sulfatase deficiency disease" EXACT []
synonym: "multiple sulfatase deficiency diseases" EXACT []
synonym: "multiple sulphatase deficiency disease" EXACT []
synonym: "sulfatidosis juvenile, Austin type" EXACT []
xref: ICD10CM:E75.26
xref: MESH:D052517
xref: NCI:C84908
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1927 ! sphingolipidosis
is_a: DOID:9002902 ! Sulfatidosis

[Term]
id: DOID:0050444
name: infantile Refsum disease
def: "A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. (DO)" [https://www.ninds.nih.gov/Disorders/All-Disorders/Infantile-Refsum-Disease-Information-Page "DO"]
synonym: "autosomal neonatal adrenoleukodystrophy" EXACT []
synonym: "infantile form of phytanic acid storage disease" EXACT []
synonym: "infantile phytanic acid storage disease" EXACT []
synonym: "infantile Refsum's disease" EXACT []
synonym: "Infantile Refsums Disease" EXACT []
synonym: "NEONATAL ADRENOLEUCODYSTROPHY" EXACT []
synonym: "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)" EXACT []
synonym: "peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)" EXACT []
synonym: "Refsum disease, infantile form" EXACT []
xref: MESH:D052919
xref: NCI:C84789
is_a: DOID:10582 ! Refsum disease
is_a: DOID:906 ! peroxisomal disease

[Term]
id: DOID:0050445
name: X-linked dominant hypophosphatemic rickets
alt_id: MIM:307800
def: "A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. (DO)" [http://en.wikipedia.org/wiki/X-linked_hypophosphatemia "DO", https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia "DO"]
synonym: "FAMILIAL X-LINKED HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS" EXACT []
synonym: "PHEX-RELATED CONDITION" EXACT []
synonym: "XLH" EXACT []
synonym: "XLHR" EXACT []
synonym: "X-linked hypophosphatemia" EXACT []
synonym: "X-linked hypophosphatemic rickets" EXACT []
synonym: "X-linked vitamin D resistant rickets" EXACT []
xref: NCI:C85234
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets

[Term]
id: DOID:0050448
name: white sponge nevus
def: "A skin disease characterized by a defect in the normal process of keratinization of the mucosa. (DO)" [http://en.wikipedia.org/wiki/White_sponge_nevus "DO", https://pubmed.ncbi.nlm.nih.gov/29034652/ "DO"]
synonym: "hereditary mucosal leukokeratoses" EXACT []
synonym: "hereditary mucosal leukokeratosis" EXACT []
synonym: "white sponge nevus of Cannon" EXACT []
xref: GARD:8501
xref: MESH:D053529
xref: MIM:PS193900
xref: NCI:C84760
xref: ORDO:171723
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0050449
name: pachyonychia congenita
def: "A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin. (DO)" [https://ghr.nlm.nih.gov/condition/pachyonychia-congenita "DO"]
synonym: "congenital pachyonychia" EXACT []
synonym: "congenital pachyonychias" EXACT []
synonym: "pachyonychia congenita syndrome" EXACT []
synonym: "pachyonychia congenita syndromes" EXACT []
synonym: "PC-K6A" EXACT []
xref: GARD:10753
xref: MESH:D053549
xref: MIM:PS167200
xref: NCI:C84986
xref: ORDO:2309
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:4123 ! nail disease

[Term]
id: DOID:0050450
name: Gitelman syndrome
alt_id: MIM:263800
def: "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). (DO)" [https://ghr.nlm.nih.gov/condition/gitelman-syndrome "DO"]
synonym: "familial hypokalemia hypomagnesemia" EXACT []
synonym: "Gitelman's syndrome" EXACT []
synonym: "GTLMNS" EXACT []
synonym: "potassium and magnesium depletion" EXACT []
synonym: "primary renotubular, hypokalemia-hypomagnesemia with hypocalciuria" EXACT []
synonym: "SLC12A3-RELATED CONDITION" EXACT []
synonym: "tubular hypomagnesemia hypokalemia with hypocalcuria" EXACT []
xref: GARD:8547
xref: MESH:D053579
xref: NCI:C84730
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:0050451
name: Brugada syndrome
def: "A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. (DO)" [http://en.wikipedia.org/wiki/Brugada_syndrome "DO"]
synonym: "Bangungut" EXACT []
synonym: "Brugada ECG pattern" EXACT []
synonym: "Brugada syndrome (shorter-than-normal QT interval)" EXACT []
synonym: "Brugada Syndrome, Lidocaine-Induced" NARROW []
synonym: "Brugada syndrome, phenotype modifier" RELATED []
synonym: "Brugada Type ECG Pattern" EXACT []
synonym: "Brugada type idiopathic ventricular fibrillation" EXACT []
synonym: "dream disease" EXACT []
synonym: "Pokkuri death syndrome" EXACT []
synonym: "sudden unexplained death syndrome" EXACT []
synonym: "sudden unexplained nocturnal death syndrome" EXACT []
synonym: "sudden unexplained nocturnal death syndrome (SUNDS)" EXACT []
synonym: "SUNDS" EXACT []
synonym: "SUNDS CARDIAC CONDUCTION DEFECT, NONSPECIFIC" NARROW []
xref: EFO:0004691
xref: GARD:1030
xref: MESH:D053840
xref: MIM:PS601144
xref: MONDO:0015263
xref: NCI:C142891
xref: ORDO:130
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:10273 ! heart conduction disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:0050452
name: mevalonic aciduria
def: "A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. (DO)" [https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria "DO"]
synonym: "HIDS" EXACT []
synonym: "MEVA" EXACT []
synonym: "mevalonate kinase deficiencies" EXACT []
synonym: "mevalonate kinase deficiency" EXACT []
synonym: "mevalonicaciduria" EXACT []
synonym: "mevalonicacidurias" EXACT []
xref: GARD:3588
xref: MESH:D054078
xref: MIM:610377
xref: MONDO:0012481
xref: NCI:C84890
xref: ORDO:29
is_a: DOID:9005358 ! Hypergammaglobulinemia
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
is_a: DOID:906 ! peroxisomal disease

[Term]
id: DOID:0050453
name: lissencephaly
def: "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. (DO)" [http://en.wikipedia.org/wiki/Lissencephaly "DO", http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm "DO"]
synonym: "Agyria" EXACT []
synonym: "agyrias" EXACT []
synonym: "Broad Gyri of Cerebrum" EXACT []
synonym: "ILS" EXACT []
synonym: "Large Gyri of Cerebrum" EXACT []
synonym: "Lissencephalia" EXACT []
synonym: "Lissencephalies" EXACT []
synonym: "LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA" NARROW []
synonym: "LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA" NARROW []
synonym: "lissencephaly, dominant" NARROW []
synonym: "lissencephaly, recessive" NARROW []
synonym: "LISSENCEPHALY SEQUENCE, ISOLATED" EXACT []
synonym: "macrogyria" EXACT []
synonym: "macrogyrias" EXACT []
synonym: "Pachygyria" EXACT []
synonym: "Pachygyrias" EXACT []
synonym: "POSTERIOR PREDOMINANT LISSENCEPHALY" NARROW []
synonym: "SBH" NARROW []
synonym: "SCLH" NARROW []
synonym: "subcortical band heterotopia" NARROW []
xref: EFO:0011063
xref: GARD:12291
xref: ICD10CM:Q04.3
xref: ICD10CM:Q04.8
xref: MESH:D054082
xref: MIM:PS607432
xref: NCI:C103921
xref: ORDO:102009
xref: ORDO:48471
is_a: DOID:2490 ! congenital nervous system abnormality
is_a: DOID:9004667 ! Malformations of Cortical Development, Group II

[Term]
id: DOID:0050454
name: periventricular nodular heterotopia
alt_id: MIM:300049
def: "A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. (DO)" [http://ghr.nlm.nih.gov/condition/periventricular-heterotopia "DO"]
synonym: "bilateral periventricular nodular heterotopia" EXACT []
synonym: "BPNH" EXACT []
synonym: "Familial Nodular Heterotopia" EXACT []
synonym: "familial nodular heterotopias" EXACT []
synonym: "HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA" NARROW []
synonym: "HETEROTOPIA, PERIVENTRICULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA" NARROW []
synonym: "Heterotopia, Periventricular, X-Linked Dominant" EXACT []
synonym: "NHBP" EXACT []
synonym: "Periventricular Heterotopia" EXACT []
synonym: "Periventricular Heterotopias" EXACT []
synonym: "Periventricular Nodular Heterotopia 1" EXACT []
synonym: "Periventricular Nodular Heterotopias" EXACT []
synonym: "PVNH1" EXACT []
synonym: "X-linked periventricular heterotopia" EXACT []
synonym: "X-linked periventricular heterotopias" EXACT []
xref: MESH:D054091
xref: MIM:PS300049
xref: NCI:C202072
xref: ORDO:98892
is_a: DOID:2490 ! congenital nervous system abnormality
is_a: DOID:9004667 ! Malformations of Cortical Development, Group II

[Term]
id: DOID:0050456
name: Buruli ulcer disease
alt_id: MIM:610446
def: "A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. (DO)" [http://en.wikipedia.org/wiki/Buruli_ulcer "DO", http://www.who.int/mediacentre/factsheets/fs199/en/ "DO"]
synonym: "Bairnsdale ulcer" EXACT []
synonym: "Buruli ulcer" EXACT []
synonym: "Buruli Ulcer Diseases" EXACT []
synonym: "BURULI ULCER, SUSCEPTIBILITY TO" EXACT []
synonym: "Daintree ulcer" EXACT []
synonym: "Mossman ulcer" EXACT []
synonym: "Mycobacterium ulcerans Infection" EXACT []
synonym: "Mycobacterium ulcerans Infections" EXACT []
synonym: "Mycobacterium ulcerans, susceptibility to" RELATED []
synonym: "Searle's ulcer" EXACT []
synonym: "Searl ulcer" EXACT []
xref: EFO:1001281
xref: GARD:9520
xref: ICD10CM:A31.1
xref: MESH:D054312
xref: MONDO:0000327
xref: NCI:C84604
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:8549 ! chronic ulcer of skin
is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections

[Term]
id: DOID:0050457
name: Sertoli cell-only syndrome
def: "A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. (DO)" [https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome "DO"]
synonym: "Del Castillo syndrome" EXACT []
synonym: "germinal cell aplasia" EXACT []
xref: EFO:1001422
xref: GARD:8406
xref: MESH:D054331
xref: NCI:C168988
is_a: DOID:12336 ! male infertility
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0050458
name: juvenile myelomonocytic leukemia
alt_id: MIM:607785
def: "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. (DO)" [https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/ "DO"]
synonym: "CMML" NARROW []
synonym: "JMML" EXACT []
synonym: "juvenile chronic myelogenous leukemia" EXACT []
synonym: "juvenile myelomonocytic leukemia, chronic myelomonocytic" NARROW []
synonym: "juvenile myelomonocytic leukemias" EXACT []
xref: EFO:1000309
xref: GARD:9884
xref: ICD10CM:C93.3
xref: ICDO:9946/3
xref: MESH:D054429
xref: NCI:C9233
xref: ORDO:86834
is_a: DOID:4972 ! myelodysplastic/myeloproliferative neoplasm
is_a: DOID:8692 ! myeloid leukemia

[Term]
id: DOID:0050459
name: hyperphosphatemia
def: "A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene. (DO)" [https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis "DO"]
synonym: "hyperphosphatemias" EXACT []
xref: MESH:D054559
xref: NCI:C113750
is_a: DOID:2485 ! phosphorus metabolism disease

[Term]
id: DOID:0050460
name: Wolf-Hirschhorn syndrome
alt_id: MIM:194190
def: "A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. (DO)" [https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome "DO"]
synonym: "4p deletion syndrome" EXACT []
synonym: "4p- Syndrome" EXACT []
synonym: "CHROMOSOME 4p16.3 DELETION SYNDROME" EXACT []
synonym: "Chromosome 4p Deletion Syndrome" EXACT []
synonym: "Chromosome 4p Monosomy" EXACT []
synonym: "Chromosome 4p Syndrome" EXACT []
synonym: "chromosome 4p syndromes" EXACT []
synonym: "Del(4p) Syndrome" EXACT []
synonym: "Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation" EXACT []
synonym: "Partial Monosomy 4p" EXACT []
synonym: "Pitt Rogers Danks Syndrome" EXACT []
synonym: "Pitt Syndrome" EXACT []
synonym: "Pitt Syndromes" EXACT []
synonym: "PRDS" EXACT []
synonym: "WHS" EXACT []
synonym: "Wolf Hirchhorn syndrome" EXACT []
synonym: "Wolf syndrome" EXACT []
xref: GARD:7896
xref: ICD10CM:Q93.3
xref: MESH:D054877
xref: NCI:C35528
xref: ORDO:280
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0050461
name: aspartylglucosaminuria
alt_id: MESH:C538402
alt_id: MIM:208400
def: "A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. (DO)" [https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria "DO"]
synonym: "AGA deficiencies" EXACT []
synonym: "AGA deficiency" EXACT []
synonym: "AGU" EXACT []
synonym: "aspartylglucosamidase (AGA) deficiency" EXACT []
synonym: "aspartylglucosamidase deficiencies" EXACT []
synonym: "aspartylglucosamidase deficiency" EXACT []
synonym: "aspartylglucosaminidase deficiency" EXACT []
synonym: "aspartylglucosaminuria, Finnish type" EXACT []
synonym: "aspartylglucosaminurias" EXACT []
synonym: "aspartylglycosaminuria" EXACT []
synonym: "aspartylglycosaminuria, Finnish type" EXACT []
synonym: "aspartylglycosaminurias" EXACT []
synonym: "glycoasparaginase" EXACT []
synonym: "glycoasparaginases" EXACT []
synonym: "glycosylasparaginase deficiency" EXACT []
xref: GARD:5854
xref: MESH:D054880
xref: NCI:C61273
is_a: DOID:3211 ! lysosomal storage disease

[Term]
id: DOID:0050462
name: Antley-Bixler syndrome with disordered steroidogenesis
alt_id: DOID:9003979
def: "An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. (DO)" [http://en.wikipedia.org/wiki/Antley-Bixler_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/35070845/ "DO"]
synonym: "ABS1" EXACT []
synonym: "Antley-Bixler syndrome, autosomal dominant" EXACT []
synonym: "Antley-Bixler syndrome like phenotype with disordered steroidogenesis" EXACT []
synonym: "Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis" EXACT []
synonym: "Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase" EXACT []
synonym: "Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency" EXACT []
synonym: "Multisynostotic Osteodysgenesis" EXACT []
synonym: "multisynostotic osteodysgenesis with fractures" EXACT []
synonym: "POR deficiency" EXACT []
synonym: "trapezoidocephaly synostosis syndrome" EXACT []
synonym: "trapezoidocephaly-synostosis syndromes" EXACT []
xref: MIM:201750
xref: NCI:C174439
xref: NCI:C178415
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081289 ! Antley-Bixler syndrome
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:0050463
name: campomelic dysplasia
alt_id: MIM:114290
def: "An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. (DO)" [http://en.wikipedia.org/wiki/Campomelic_dysplasia "DO", http://ghr.nlm.nih.gov/condition/campomelic-dysplasia "DO", http://www.healthline.com/galecontent/campomelic-dysplasia-1 "DO"]
synonym: "acampomelic campomelic dysplasia" RELATED []
synonym: "acampomelic campomelic dysplasias" RELATED []
synonym: "acampomelic campomelic dysplasia with autosomal sex reversal" RELATED []
synonym: "campomelic dwarfism" EXACT []
synonym: "campomelic dwarfisms" EXACT []
synonym: "campomelic dysplasias" EXACT []
synonym: "campomelic dysplasia with autosomal sex reversal" RELATED []
synonym: "campomelic syndrome" EXACT []
synonym: "campomelic syndromes" EXACT []
synonym: "camptomelic dysplasia" EXACT []
synonym: "CMD1" EXACT []
synonym: "CMPD" EXACT []
synonym: "CMPD1" EXACT []
synonym: "CMPD1/SRA1" BROAD []
synonym: "SOX9-RELATED CONDITION" BROAD []
xref: EFO:0004140
xref: GARD:10027
xref: MESH:D055036
xref: MONDO:0007251
xref: NCI:C120205
xref: NCI:C84609
xref: ORDO:140
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:0050464
name: Farber lipogranulomatosis
alt_id: MIM:228000
def: "A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. (DO)" [https://en.wikipedia.org/wiki/Farber_disease "DO"]
synonym: "AC deficiency" EXACT []
synonym: "acid ceramidase deficiencies" EXACT []
synonym: "acid ceramidase deficiency" EXACT []
synonym: "ceramidase deficiencies" EXACT []
synonym: "Ceramidase Deficiency" EXACT []
synonym: "Farber's Disease" EXACT []
synonym: "Farber's diseases" EXACT []
synonym: "Farber's lipogranulomatosis" EXACT []
synonym: "Farber Disease" EXACT []
synonym: "Farbers Disease" EXACT []
synonym: "FRBRL" EXACT []
synonym: "N-laurylsphingosine deacylase deficiencies" EXACT []
synonym: "N-laurylsphingosine deacylase deficiency" EXACT []
xref: GARD:6426
xref: MESH:D055577
xref: NCI:C84710
xref: ORDO:333
is_a: DOID:1927 ! sphingolipidosis
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:0050465
name: Muir-Torre syndrome
alt_id: MIM:158320
def: "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes. (DO)" [https://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome "DO"]
synonym: "CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS" EXACT []
synonym: "MRTES" EXACT []
synonym: "Muir-Torré syndrome" EXACT []
xref: GARD:6821
xref: MESH:D055653
xref: NCI:C84905
xref: ORDO:587
is_a: DOID:0070274 ! hereditary nonpolyposis colorectal cancer type 2
is_a: DOID:5759 ! sebaceous gland neoplasm
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0050466
name: Loeys-Dietz syndrome
alt_id: MESH:C538192
def: "A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. (DO)" [https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome "DO"]
synonym: "aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations" EXACT []
synonym: "Loeys Dietz aortic aneurysm syndrome" EXACT []
synonym: "Loeys Dietz syndrome, type 1A" EXACT []
synonym: "Marfanoid disorder with craniosynostosis, type 2" EXACT []
xref: GARD:10788
xref: MESH:D055947
xref: MIM:PS609192
xref: NCI:C75006
xref: ORDO:60030
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14323 ! Marfan syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:3627 ! aortic aneurysm
is_a: DOID:9006045 ! Dissecting Aneurysm
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0050467
name: erythrokeratodermia variabilis
def: "A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. (DO)" [https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis "DO"]
synonym: "EKV" EXACT []
synonym: "EKVP" EXACT []
synonym: "erythro et keratodermia variabilis" EXACT []
synonym: "erythrokeratodermia figurata variabilis" EXACT []
synonym: "erythrokeratodermia variabilis et progressiva" EXACT []
synonym: "Mendes De Costa syndrome" EXACT []
synonym: "progressive symmetric erythrokeratodermia" EXACT []
synonym: "PSEK" EXACT []
xref: MESH:D056266
xref: MIM:PS133200
xref: NCI:C84696
xref: ORDO:317
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:161 ! keratosis
is_a: DOID:9006976 ! Erythema
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0050468
name: yellow nail syndrome
alt_id: MIM:153300
def: "A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. (DO)" [http://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract "DO", https://www.ncbi.nlm.nih.gov/pubmed/28241848 "DO"]
synonym: "lymphedema and yellow nails" EXACT []
synonym: "yellow nail syndromes" EXACT []
synonym: "YNS" EXACT []
xref: EFO:1001452
xref: GARD:184
xref: ICD10CM:L60.5
xref: MESH:D056684
xref: NCI:C85238
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:225 ! syndrome
is_a: DOID:630 ! genetic disease
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:0050469
name: Costello syndrome
alt_id: MIM:218040
def: "A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17250658 "DO", https://www.ncbi.nlm.nih.gov/pubmed/907573 "DO"]
synonym: "CMEMS" NARROW []
synonym: "congenital myopathy with excess of muscle spindles" NARROW []
synonym: "CSTLO" EXACT []
synonym: "faciocutaneoskeletal syndrome" EXACT []
synonym: "faciocutaneoskeletal syndromes" EXACT []
synonym: "FCS syndrome" EXACT []
synonym: "FCS syndromes" EXACT []
xref: GARD:1550
xref: MESH:D056685
xref: NCI:C84652
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080690 ! RASopathy
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0050470
name: Donohue syndrome
alt_id: MESH:C562709
alt_id: MIM:246200
def: "A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. (DO)" [https://en.wikipedia.org/wiki/Donohue_syndrome "DO"]
synonym: "defect in insulin receptor" RELATED []
synonym: "leprechaunism" EXACT []
synonym: "leprechaunism syndrome" EXACT []
xref: MESH:D056731
xref: NCI:C131000
xref: NCI:C84676
xref: ORDO:508
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:0050471
name: Carney complex
alt_id: MIM:160980
alt_id: MIM:605244
def: "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. (DO)" [http://en.wikipedia.org/wiki/Carney_complex "DO", http://ghr.nlm.nih.gov/condition/carney-complex "DO"]
synonym: "CAR" EXACT []
synonym: "Carney complex, type 1" EXACT []
synonym: "Carney complex, type 2" EXACT []
synonym: "Carney complex, type I" EXACT []
synonym: "Carney complex, type II" EXACT []
synonym: "Carney Myxoma Endocrine Complex" EXACT []
synonym: "CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2" EXACT []
synonym: "Carney Myxoma Endocrine Complex, Type II" EXACT []
synonym: "Carney syndrome" EXACT []
synonym: "CNC1" EXACT []
synonym: "CNC2" EXACT []
synonym: "LAMB - lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome" EXACT []
synonym: "LAMB syndrome" EXACT []
synonym: "myxoma, spotty pigmentation, and endocrine overactivity" EXACT []
synonym: "NAME syndrome" EXACT []
synonym: "nevi, atrial myxoma, skin myxoma, ephelides syndrome" EXACT []
xref: GARD:1119
xref: MESH:D056733
xref: NCI:C4705
xref: ORDO:1359
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9003253 ! Myxoma
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0050472
name: monilethrix
alt_id: MIM:158000
def: "A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins. (DO)" [https://ghr.nlm.nih.gov/condition/monilethrix "DO"]
synonym: "MNLIX" EXACT []
synonym: "monilethrices" EXACT []
synonym: "nodose hair" EXACT []
xref: GARD:93
xref: ICD10CM:Q84.1
xref: MESH:D056734
xref: NCI:C84894
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:421 ! hair disease
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0050473
name: Alstrom syndrome
alt_id: MIM:203800
def: "A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. (DO)" [http://en.wikipedia.org/wiki/Alstrom_syndrome "DO"]
synonym: "ALMS" EXACT []
synonym: "ALMS1-RELATED CONDITION" EXACT []
synonym: "ALSS" EXACT []
synonym: "Alstrom's syndrome" EXACT []
synonym: "Alstrom Hallgren syndrome" EXACT []
synonym: "Alstroms syndrome" EXACT []
synonym: "Alstrom syndrome" EXACT []
xref: EFO:MONDO:0008763
xref: MESH:D056769
xref: NCI:C84549
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060340 ! ciliopathy
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:225 ! syndrome
is_a: DOID:2477 ! motor peripheral neuropathy

[Term]
id: DOID:0050474
name: Netherton syndrome
alt_id: MIM:256500
def: "A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin. (DO)" [https://ghr.nlm.nih.gov/condition/netherton-syndrome "DO"]
synonym: "Comel-Netherton syndrome" EXACT []
synonym: "ichthyosiform erythroderma with hypotrichosis and hyper-IgE" EXACT []
synonym: "ICHTHYOSIS LINEARIS CIRCUMFLEXA" EXACT []
synonym: "NETH" EXACT []
synonym: "Netherton disease" EXACT []
synonym: "NS" EXACT []
xref: GARD:7182
xref: MESH:D056770
xref: NCI:C84922
xref: ORDO:634
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0050475
name: Weill-Marchesani syndrome
def: "A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. (DO)" [http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome "DO", http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome "DO"]
synonym: "congenital mesodermal dysmorphodystrophies" EXACT []
synonym: "congenital mesodermal dysmorphodystrophy" EXACT []
synonym: "congenital mesodermal dystrophy" EXACT []
synonym: "Marchesani Syndrome" EXACT []
synonym: "Marchesani-Weill syndromes" EXACT []
synonym: "spherophakia brachymorphia syndrome" EXACT []
synonym: "spherophakia brachymorphia syndromes" EXACT []
synonym: "Weill Marchesani syndrome, autosomal recessive" NARROW []
xref: GARD:4936
xref: MESH:D056846
xref: MIM:PS277600
xref: NCI:C85226
xref: ORDO:3449
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:225 ! syndrome
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0050476
name: Barth syndrome
alt_id: MIM:302060
def: "A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. (DO)" [http://en.wikipedia.org/wiki/Barth_syndrome "DO", http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1 "DO", http://www.ninds.nih.gov/disorders/barth/barth.htm "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract "DO"]
synonym: "3 methylglutaconicaciduria type 2" EXACT []
synonym: "3-methylglutaconic aciduria type 2" EXACT []
synonym: "3-Methylglutaconicaciduria Type II" EXACT []
synonym: "3-methylglutaconic aciduria type II" EXACT []
synonym: "BTHS" EXACT []
synonym: "cardioskeletal myopathy-neutropenia syndrome" EXACT []
synonym: "cardioskeletal myopathy with neutropenia and abnormal mitochondria" EXACT []
synonym: "MGA2" EXACT []
synonym: "MGA type 2" EXACT []
synonym: "MGA type II" EXACT []
synonym: "MGCA2" EXACT []
synonym: "X-linked cardioskeletal myopathy and neutropenia" EXACT []
xref: GARD:5890
xref: ICD10CM:E78.71
xref: MESH:D056889
xref: NCI:C84585
xref: ORDO:111
is_a: DOID:0060336 ! 3-methylglutaconic aciduria
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0050477
name: Liddle syndrome
def: "A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel. (DO)" [https://en.wikipedia.org/wiki/Liddle%27s_syndrome "DO"]
synonym: "Liddle's syndrome" EXACT []
synonym: "LIDLS" EXACT []
synonym: "pseudoaldosteronism" EXACT []
xref: GARD:7381
xref: MESH:D056929
xref: MIM:PS177200
xref: NCI:C84827
is_a: DOID:225 ! syndrome
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:0050480
name: epidemic typhus
def: "A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. (DO)" [http://en.wikipedia.org/wiki/Epidemic_typhus "DO"]
synonym: "epidemic louse-borne typhus fever due to Rickettsia prowazekii" EXACT []
synonym: "jail fever" EXACT []
synonym: "louse-borne epidemic typhus" EXACT []
synonym: "louse-borne rickettsiosis" EXACT []
synonym: "louse-borne typhus" EXACT []
synonym: "sylvatic typhus" EXACT []
xref: MESH:D014438
is_a: DOID:11256 ! typhus

[Term]
id: DOID:0050481
name: endemic typhus
def: "A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash. (DO)" [http://en.wikipedia.org/wiki/Murine_typhus "DO"]
synonym: "cat flea rickettsiosis" EXACT []
synonym: "endemic flea-borne typhus" EXACT []
synonym: "endemic typhus fever" EXACT []
synonym: "flea-borne rickettsiosis" EXACT []
synonym: "flea-borne typhus" EXACT []
synonym: "fleaborne typhus" EXACT []
synonym: "murine [endemic] typhus" EXACT []
synonym: "murine typhus" EXACT []
synonym: "rat-flea typhus" EXACT []
synonym: "rickettsia felis spotted fever" EXACT []
synonym: "shop typhus" EXACT []
synonym: "toulon typhus" EXACT []
synonym: "urban typhus" EXACT []
synonym: "urban typhus of Malaya" EXACT []
xref: MESH:D014437
xref: MONDO:0000330
xref: NCI:C84688
xref: ORDO:83315
is_a: DOID:11256 ! typhus

[Term]
id: DOID:0050484
name: aneruptive fever
def: "A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. (DO)" [http://jcm.asm.org/cgi/reprint/42/2/816 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"]
synonym: "Rickettsia helvetica spotted fever" EXACT []
is_a: DOID:11104 ! spotted fever
created_by: rgd
creation_date: 2017-10-10T00:00:00Z

[Term]
id: DOID:0050485
name: sennetsu fever
def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. (DO)" [https://rarediseases.org/rare-diseases/sennetsu-fever/ "DO"]
synonym: "Human Ehrlichial infection, Sennetsu type" EXACT []
synonym: "Sennetsu ehrlichiosis" EXACT []
xref: GARD:120
xref: MESH:C537582
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:10242 ! ehrlichiosis

[Term]
id: DOID:0050486
name: exanthem
def: "A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders. (DO)" [https://en.wikipedia.org/wiki/Exanthem "DO"]
synonym: "exanthema" EXACT []
synonym: "rash" EXACT []
synonym: "skin rash" EXACT []
xref: EFO:1000697
xref: ICD10CM:R21
xref: ICD9CM:782.1
xref: MESH:D005076
xref: NCI:C111884
xref: NCI:C39594
is_a: DOID:37 ! skin disease

[Term]
id: DOID:0050487
name: bacterial exanthem
def: "An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin. (DO)" [https://en.wikipedia.org/wiki/Scarlet_fever#Rash "DO"]
xref: EFO:1000671
is_a: DOID:0050486 ! exanthem
is_a: DOID:104 ! bacterial infectious disease
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050488
name: early congenital syphilis
def: "A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. (DO)" [http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html "DO"]
is_a: DOID:9856 ! congenital syphilis

[Term]
id: DOID:0050489
name: multinodular goiter
def: "A goiter characterized by a multinodular enlargement of the thyroid gland. (DO)" [http://en.wikipedia.org/wiki/Multinodular_goitre "DO"]
xref: MIM:PS138800
is_a: DOID:13197 ! nodular goiter

[Term]
id: DOID:0050490
name: parenchymatous neurosyphilis
def: "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO"]
xref: RDO:9002432
is_a: DOID:9988 ! tertiary neurosyphilis
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050491
name: meningovascular neurosyphilis
def: "A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO"]
is_a: DOID:9988 ! tertiary neurosyphilis
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050495
name: exanthema subitum
def: "A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. (DO)" [http://en.wikipedia.org/wiki/Exanthema_subitum "DO"]
synonym: "Roseola Infantum" EXACT []
synonym: "Sixth Disease" EXACT []
xref: EFO:1001320
xref: ICD10CM:B08.2
xref: ICD9CM:058.1
xref: MESH:D005077
is_a: DOID:0050486 ! exanthem
is_a: DOID:9001063 ! Viral Skin Diseases
is_a: DOID:9002501 ! Roseolovirus Infections

[Term]
id: DOID:0050508
name: variola major
def: "A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. (DO)" [http://www.who.int/csr/disease/smallpox/en/ "DO"]
xref: ICD9CM:050.0
is_a: DOID:8736 ! smallpox
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:0050513
name: spinal polio
def: "A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs. (DO)" [http://en.wikipedia.org/wiki/Poliomyelitis "DO"]
is_a: DOID:0050515 ! paralytic poliomyelitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050514
name: bulbospinal polio
def: "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs. (DO)" [http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms "DO"]
is_a: DOID:0050515 ! paralytic poliomyelitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050515
name: paralytic poliomyelitis
def: "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. (DO)" [http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms "DO", https://www.sciencedirect.com/topics/neuroscience/paralytic-polio "DO"]
is_a: DOID:4953 ! poliomyelitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050516
name: O'nyong'nyong fever
def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. (DO)" [http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false "DO"]
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050517
name: Barmah Forest virus disease
def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO)" [https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/barmah-forest-virus-disease "DO"]
xref: RDO:9004309
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050518
name: Ross River fever
def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO)" [http://en.wikipedia.org/wiki/Ross_River_fever "DO"]
synonym: "Ross River virus disease" EXACT []
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050521
name: Oropouche fever
def: "A viral infectious disease that results in infection, has_material_basis_in Oropouche virus, which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting. (DO)" [http://en.wikipedia.org/wiki/Oropouche_fever "DO", http://www.cdc.gov/EID/content/13/6/912.htm "DO"]
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050522
name: Balkan hemorrhagic fever
def: "A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus, which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. (DO)" [https://en.wikipedia.org/wiki/Dobrava-Belgrade_orthohantavirus "DO", https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome "DO"]
is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0050523
name: adult T-cell leukemia/lymphoma
def: "A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. (DO)" [http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma "DO", http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C3184 "DO"]
synonym: "acute T-cell leukemia lymphoma, HTLV I associated" EXACT []
synonym: "adult T-cell leukemia" EXACT []
synonym: "Adult T-cell leukemia/lymphoma (HTLV-1 positive)" EXACT []
synonym: "adult T-cell leukemia-lymphomas" EXACT []
synonym: "adult T-cell leukemias" EXACT []
synonym: "ATLL" EXACT []
synonym: "HTLV Associated Leukemia Lymphoma" EXACT []
synonym: "HTLV-Associated Leukemia-Lymphomas" EXACT []
synonym: "HTLV I Associated T Cell Leukemia Lymphoma" EXACT []
synonym: "HTLV-I-Associated T-Cell Leukemia-Lymphomas" EXACT []
synonym: "human T-cell leukemia lymphoma" EXACT []
synonym: "human T-cell leukemia-lymphomas" EXACT []
synonym: "human T lymphotropic virus associated leukemia lymphoma" EXACT []
xref: GARD:13103
xref: ICD10CM:C91.5
xref: ICDO:9827/3
xref: MESH:D015459
is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0050524
name: maturity-onset diabetes of the young
alt_id: MIM:606391
def: "A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. (DO)" [http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young "DO"]
synonym: "Mason-type diabetes" EXACT []
synonym: "maturity-onset diabetes mellitus in young" EXACT []
synonym: "MODY" EXACT []
xref: GARD:3697
xref: ICD10CM:E11.8
xref: MESH:C562772
xref: NCI:C114769
xref: ORDO:552
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:0050526
name: Gamstorp-Wohlfart syndrome
alt_id: MIM:137200
def: "A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. (DO)" [http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia "DO"]
synonym: "acquired neuromyotonia" EXACT []
synonym: "AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA" EXACT []
synonym: "autosomal recessive neuromyotonia and axonal neuropathy" EXACT []
synonym: "continuous muscle activity syndrome" EXACT []
synonym: "Continuous Myokymia" EXACT []
synonym: "continuous myokymias" EXACT []
synonym: "Isaacs Mertens Syndrome" EXACT []
synonym: "Isaacs-Mertens Syndromes" EXACT []
synonym: "Isaacs Pseudomyotonia Syndrome" EXACT []
synonym: "Isaacs Syndrome" EXACT []
synonym: "Isaac Syndrome" EXACT []
synonym: "myokymia, myotonia and muscle wasting" EXACT []
synonym: "Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis" EXACT []
synonym: "Neuromyotonia" EXACT []
synonym: "NMAN" EXACT []
synonym: "Pseudomyotonia" EXACT []
synonym: "pseudomyotonia syndrome of Isaacs" EXACT []
synonym: "quantal squander" EXACT []
synonym: "syndrome of continuous muscle activity" EXACT []
xref: GARD:12353
xref: MESH:D020386
xref: NCI:C202012
is_a: DOID:0080000 ! muscular disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0050528
name: nonphotosensitive trichothiodystrophy 4
alt_id: MIM:234050
def: "A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. (DO)" [https://ghr.nlm.nih.gov/condition/trichothiodystrophy "DO"]
synonym: "HAIR-BRAIN SYNDROME" EXACT []
synonym: "nonphotosensitive trichothiodystrophy 1" EXACT []
synonym: "Pollitt syndrome" EXACT []
synonym: "trichorrhexis nodosa syndrome" EXACT []
synonym: "trichothiodystrophy-neurocutaneous syndrome" EXACT []
synonym: "trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt" EXACT []
synonym: "TTD4" EXACT []
synonym: "TTDN1" EXACT []
xref: MESH:C536556
xref: NCI:C146899
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy

[Term]
id: DOID:0050529
name: adult spinal muscular atrophy
alt_id: MESH:C538417
alt_id: MESH:C563948
def: "A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO"]
synonym: "SMA4" EXACT []
synonym: "spinal muscular atrophy 4" EXACT []
synonym: "spinal muscular atrophy, adult form" EXACT []
synonym: "spinal muscular atrophy, proximal, adult, autosomal recessive" EXACT []
synonym: "spinal muscular atrophy, type IV" EXACT []
xref: MIM:271150
xref: ORDO:83420
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:0050530
name: intermediate spinal muscular atrophy
def: "A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO)" [https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2 "DO"]
synonym: "SMA2" EXACT []
synonym: "SMA II" EXACT []
synonym: "spinal muscular atrophy 2" EXACT []
synonym: "spinal muscular atrophy, infantile chronic form" EXACT []
synonym: "spinal muscular atrophy, intermediate type" EXACT []
synonym: "spinal muscular atrophy, type 2" EXACT []
synonym: "spinal muscular atrophy, type II" EXACT []
xref: MIM:253550
xref: MONDO:0009673
xref: NCI:C156310
xref: ORDO:83418
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060160 ! childhood spinal muscular atrophy
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0050534
name: congenital stationary night blindness
def: "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. (DO)" [http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1245/ "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/ "DO", http://www.omim.org/entry/610444 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215 "DO"]
synonym: "congenital essential nyctalopia" EXACT []
synonym: "congenital stationary night blindness, complete, autosomal recessive" NARROW []
synonym: "congenital stationary night blindness, dominant" NARROW []
synonym: "congenital stationary night blindness, recessive" NARROW []
synonym: "congenital stationary night blindness, type 1" EXACT []
synonym: "CRSD" EXACT []
synonym: "CSNB, complete, autosomal recessive" NARROW []
synonym: "CSNB, incomplete, autosomal recessive" NARROW []
synonym: "CSNB, incomplete, X-linked" NARROW []
synonym: "hemeralopia-myopia" EXACT []
synonym: "myopia-night blindness" NARROW []
synonym: "NBM1 nyctalopia" NARROW []
synonym: "XLCSNB" NARROW []
synonym: "X-linked congenital stationary night blindness" NARROW []
synonym: "X-linked CSNB" NARROW []
xref: MESH:C536122
xref: MIM:PS310500
xref: ORDO:215
is_a: DOID:0080015 ! physical disorder
is_a: DOID:11830 ! myopia
is_a: DOID:8498 ! hereditary night blindness

[Term]
id: DOID:0050535
name: exudative vitreoretinopathy
def: "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. (DO)" [http://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy "DO", http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy "DO"]
synonym: "familial exudative vitreoretinopathy" EXACT []
synonym: "FEVR" EXACT []
xref: GARD:1613
xref: ICD10CM:H35.00
xref: ICD9CM:362.10
xref: MESH:D000080345
xref: MIM:PS133780
xref: ORDO:891
is_a: DOID:2462 ! retinal vascular disease
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9008296 ! Eye Abnormalities
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:0050537
name: posterior polar cataract
def: "A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729648/ "DO"]
is_a: DOID:83 ! cataract
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:0050538
name: Charcot-Marie-Tooth disease type 1
alt_id: RDO:9002093
alt_id: RDO:9002804
def: "A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. (DO)" [http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO"]
synonym: "Charcot Marie Tooth disease, type I" EXACT []
synonym: "Charcot Marie Tooth, type 1" EXACT []
synonym: "hereditary motor and sensory neuropathy type 1" EXACT []
synonym: "Hereditary Type I Motor and Sensory Neuropathy" EXACT []
synonym: "HMN distal type I" EXACT []
synonym: "HMSN1" EXACT []
synonym: "HMSN I" EXACT []
synonym: "HMSN type I" EXACT []
xref: GARD:12433
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:0050539
name: Charcot-Marie-Tooth disease type 2
def: "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO)" [http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/25098539 "DO"]
synonym: "Charcot-Marie-Tooth disease, type II" EXACT []
synonym: "Charcot-Marie-Tooth, type 2" EXACT []
synonym: "hereditary motor and sensory neuropathy Guadalajara neuronal type" EXACT []
synonym: "hereditary motor and sensory neuropathy Okinawa type" EXACT []
synonym: "hereditary motor and sensory neuropathy type 2" EXACT []
synonym: "hereditary motor and sensory neuropathy type II" EXACT []
synonym: "HMSN II" EXACT []
synonym: "HMSN type II" EXACT []
xref: GARD:12431
xref: ICD9CM:356.0
xref: ORDO:64746
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050540
name: Charcot-Marie-Tooth disease type 3
def: "A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. (DO)" [https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease "DO"]
synonym: "CMT3" EXACT []
synonym: "Dejerine Sottas disease" EXACT []
synonym: "Dejerine-Sottas hypertrophic neuropathy" EXACT []
synonym: "Dejerine Sottas neuropathy" EXACT []
synonym: "Dejerine-Sottas neuropathy, autosomal dominant" EXACT []
synonym: "Dejerine Sottas syndrome" EXACT []
synonym: "Dejerine-Sottas syndrome, autosomal dominant" EXACT []
synonym: "Dejerine-Sottas syndrome, autosomal recessive" EXACT []
synonym: "DSN" EXACT []
synonym: "DSS" EXACT []
synonym: "hereditary motor and sensory neuropathy 3" EXACT []
synonym: "hereditary motor and sensory neuropathy type III" EXACT []
synonym: "HMSN3" EXACT []
synonym: "HMSN type III" EXACT []
synonym: "hypertrophic neuropathy of Dejerine Sottas" EXACT []
synonym: "PRX-RELATED CONDITION" BROAD []
xref: GARD:9204
xref: MIM:145900
xref: MONDO:0007790
xref: NCI:C133087
xref: ORDO:64748
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050541
name: Charcot-Marie-Tooth disease type 4
def: "A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. (DO)" [http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO"]
synonym: "Charcot-Marie-Tooth disease, type IV" EXACT []
synonym: "Charcot-Marie-Tooth, type 4" EXACT []
synonym: "hereditary motor and sensory neuropathy" EXACT []
synonym: "hereditary motor and sensory neuropathy 4" EXACT []
xref: GARD:12440
xref: ORDO:64749
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050542
name: Charcot-Marie-Tooth disease type X
def: "A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. (DO)" [http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO"]
synonym: "Charcot-Marie-Tooth neuropathy X" EXACT []
synonym: "Charcot-Marie-Tooth, X-linked" EXACT []
xref: ORDO:64747
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050543
name: Charcot-Marie-Tooth disease intermediate type
def: "A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. (DO)" [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16775371 "DO"]
synonym: "AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE" NARROW []
synonym: "Charcot-Marie-Tooth disease dominant intermediate" NARROW []
synonym: "Charcot-Marie-Tooth disease recessive intermediate" NARROW []
synonym: "Charcot-Marie-Tooth, intermediate" RELATED []
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050544
name: hypermethioninemia
alt_id: MIM:250850
def: "An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. (DO)" [http://en.wikipedia.org/wiki/Hypermethioninemia "DO"]
synonym: "Deficiency of Methionine Adenosyltransferase" EXACT []
synonym: "Hepatic Methionine Adenosyltransferase Deficiency" EXACT []
synonym: "Hypermethioninemia, Isolated Persistent" EXACT []
synonym: "MAT DEFICIENCY" EXACT []
synonym: "MAT I/III DEFICIENCY" EXACT []
synonym: "methionine adenosyltransferase deficiency" EXACT []
synonym: "methionine adenosyltransferase deficiency, autosomal dominant" NARROW []
synonym: "methionine adenosyltransferase deficiency, autosomal recessive" NARROW []
synonym: "methionine adenosyltransferase I/III deficiency" EXACT []
synonym: "Methioninemia" EXACT []
synonym: "S-Adenosylhomocysteine Hydrolase Deficiency" EXACT []
xref: EFO:0009069
xref: MESH:C564683
xref: NCI:C123435
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0050545
name: visceral heterotaxy
alt_id: MIM:208530
def: "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. (DO)" [http://en.wikipedia.org/wiki/Situs_ambiguus "DO"]
synonym: "asplenia syndrome" EXACT []
synonym: "asplenia syndromes" EXACT []
synonym: "asplenia with cardiovascular anomalies" EXACT []
synonym: "bilateral right-sidedness sequence" EXACT []
synonym: "GDF1-RELATED CONDITION" BROAD []
synonym: "GDF1-RELATED DISORDERS" BROAD []
synonym: "heterotaxia" EXACT []
synonym: "heterotaxia syndrome" EXACT []
synonym: "heterotaxy syndrome" EXACT []
synonym: "heterotaxy syndromes" EXACT []
synonym: "HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE" NARROW []
synonym: "Left Atrial Isomerism" EXACT []
synonym: "left atrial isomerisms" EXACT []
synonym: "Left Atrial Isomerism with Polysplenia" EXACT []
synonym: "POLYASPLENIA" NARROW []
synonym: "Polysplenia Syndrome" EXACT []
synonym: "Polysplenia Syndromes" EXACT []
synonym: "RAI" EXACT []
synonym: "situs ambiguus" EXACT []
synonym: "situs ambiguus viscerum" EXACT []
synonym: "situs ambiguus viscerums" EXACT []
synonym: "situs ambiguus with asplenia" EXACT []
synonym: "situs ambiguus with polysplenia" EXACT []
synonym: "VAH, autosomal recessive" NARROW []
synonym: "visceral heterotaxies" EXACT []
xref: EFO:0009081
xref: GARD:10875
xref: MESH:D059446
xref: MIM:PS306955
xref: ORDO:450
is_a: DOID:0080015 ! physical disorder
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:2529 ! splenic disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0050546
name: congenital adrenal insufficiency
alt_id: MESH:C566131
alt_id: MIM:613743
def: "An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. (DO)" [https://en.wikipedia.org/wiki/Adrenal_insufficiency "DO"]
synonym: "congenital adrenal insufficiency, with 46,XY sex reversal" EXACT []
synonym: "congenital adrenal insufficiency, with 46,XY sex reversal, partial or complete" EXACT []
synonym: "P450scc deficiency" EXACT []
xref: MESH:C566130
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:14448 ! 46,XY sex reversal
is_a: DOID:9008622 ! Adrenal Insufficiency

[Term]
id: DOID:0050547
name: familial medullary thyroid carcinoma
def: "A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO", https://www.omim.org/entry/155240 "DO"]
synonym: "familial medullary thyroid cancer" EXACT []
synonym: "FMTC" EXACT []
synonym: "MEN2A and FMTC" EXACT []
synonym: "MTC" EXACT []
synonym: "MTC1" EXACT []
xref: EFO:1001957
xref: MESH:C536911
xref: MIM:155240
xref: MONDO:0007958
is_a: DOID:0050430 ! multiple endocrine neoplasia type 2A
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3973 ! medullary thyroid carcinoma

[Term]
id: DOID:0050548
name: hereditary sensory neuropathy
alt_id: OMIA:001514
def: "A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. (DO)" [http://omim.org/entry/616488?search=616488&highlight=616488 "DO"]
synonym: "acral mutilation syndrome" NARROW []
synonym: "AMS" NARROW []
synonym: "congenital sensory neuropathies" EXACT []
synonym: "congenital sensory neuropathy" EXACT []
synonym: "hereditary sensory and autonomic neuropathies" EXACT []
synonym: "hereditary sensory and autonomic neuropathy" EXACT []
synonym: "hereditary sensory neuropathies" EXACT []
synonym: "hereditary sensory radicular neuropathy" EXACT []
synonym: "hereditary sensory radicular neuropathy, autosomal dominant" EXACT []
synonym: "hereditary sensory radicular neuropathy, autosomal recessive" EXACT []
synonym: "hereditary sensory radicular neuropathy, recessive form" EXACT []
synonym: "HSAN" EXACT []
synonym: "HSAN (hereditary sensory autonomic neuropathy)" EXACT []
xref: MESH:D009477
xref: MIM:PS162400
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:870 ! neuropathy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9006534 ! Nervous System Malformations

[Term]
id: DOID:0050553
name: proteasome-associated autoinflammatory syndrome 1
def: "A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous mutation in the PSMB8 gene on chromosome 6p21 or a heterozygous mutation in the PSMB8 gene and a heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21129723/ "DO", https://pubmed.ncbi.nlm.nih.gov/21852578/ "DO", https://pubmed.ncbi.nlm.nih.gov/21881205/ "DO", https://www.nomidalliance.org/candle.php "DO"]
synonym: "ALDD" EXACT []
synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome" EXACT []
synonym: "CANDLE" EXACT []
synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" EXACT []
synonym: "JMP syndrome" EXACT []
synonym: "joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy" EXACT []
synonym: "Nakajo-Nishimura syndrome" EXACT []
synonym: "NKJO" EXACT []
synonym: "PRAAS1" EXACT []
synonym: "proteasome-associated autoinflammatory syndrome 1, digenic" NARROW []
xref: GARD:10988
xref: GARD:3916
xref: GARD:3917
xref: MIM:256040
xref: NCI:C176619
xref: ORDO:324999
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome
is_a: DOID:0080578 ! digenic disease

[Term]
id: DOID:0050554
name: X-linked sideroblastic anemia with ataxia
alt_id: DOID:0060064
def: "A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia "DO"]
synonym: "Anemia, sideroblastic, spinocerebellar ataxia" EXACT []
synonym: "ASAT" EXACT []
synonym: "Pagon Bird Detter syndrome" EXACT []
synonym: "SCAX6" EXACT []
synonym: "sex-linked hypochromic sideroblastic anemia" EXACT []
synonym: "sideroblastic anemia and ataxia" EXACT []
synonym: "sideroblastic anemia and spinocerebellar ataxia" EXACT []
synonym: "sideroblastic anemia with spinocerebellar ataxia" EXACT []
synonym: "X-linked sideroblastic anaemia and ataxia" EXACT []
synonym: "X-linked sideroblastic anaemia with ataxia" EXACT []
synonym: "X-linked sideroblastic anemia and ataxia" EXACT []
synonym: "X-linked spinocerebellar ataxia-6 with or without sideroblastic anemia" EXACT []
synonym: "XLSA-A" EXACT []
xref: GARD:668
xref: MESH:C536358
xref: MIM:301310
xref: MONDO:0010524
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:8955 ! sideroblastic anemia
is_a: DOID:9002121 ! Spinocerebellar Ataxias

[Term]
id: DOID:0050557
name: congenital muscular dystrophy
def: "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. (DO)" [http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/ "DO", https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page "DO"]
synonym: "CMD" EXACT []
synonym: "congenital muscular dystrophy, alpha-dystroglycan related" NARROW []
xref: GARD:9138
xref: ICD9CM:359.0
xref: ORDO:97242
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9884 ! muscular dystrophy
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0050558
name: Ullrich congenital muscular dystrophy
def: "A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and  COL6A3 genes. (DO)" [https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy "DO"]
synonym: "COL6A1-RELATED DISORDER" BROAD []
synonym: "late onset scleroatonic familial myopathy" EXACT []
synonym: "muscular dystrophy, Ullrich type" EXACT []
synonym: "scleroatonic muscular dystrophy" EXACT []
synonym: "UCMD" EXACT []
synonym: "Ullrich congenital muscular dystrophy, autosomal dominant" NARROW []
synonym: "Ullrich congenital muscular dystrophy, autosomal recessive" NARROW []
synonym: "Ullrich congenital muscular dystrophy, digenic, COL6A1/COL6A2" NARROW []
synonym: "Ullrich disease" EXACT []
synonym: "Ullrich scleroatonic muscular dystrophy" EXACT []
xref: GARD:4769
xref: MESH:C537521
xref: MIM:PS254090
xref: MONDO:0000355
xref: NCI:C123438
xref: OMIA:001967
xref: ORDO:75840
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9007896 ! Sclerosis
is_a: DOID:9007913 ! Collagen VI-related Myopathy

[Term]
id: DOID:0050559
name: Fukuyama congenital muscular dystrophy
def: "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. (DO)" [https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy "DO"]
synonym: "FCMD" EXACT []
synonym: "Fukuyama CMD" EXACT []
synonym: "Fukuyama muscular dystrophy" EXACT []
synonym: "Fukuyama Syndrome" EXACT []
synonym: "Fukuyama type cerebromuscular dystrophy" EXACT []
synonym: "Fukuyama type congenital muscular dystrophy" EXACT []
synonym: "MDDGA4" EXACT []
synonym: "muscular dystrophy due to defective glycosylation of dystroglycan 4A" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4" EXACT []
synonym: "Walker-Warburg syndrome, FKTN-related" EXACT []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related" EXACT []
xref: GARD:6475
xref: MIM:253800
xref: ORDO:272
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0050560
name: Walker-Warburg syndrome
def: "A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. (DO)" [https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome "DO"]
synonym: "alpha dystroglycanopathies" EXACT []
synonym: "Chemke syndrome" EXACT []
synonym: "MEB (Muscle-Eye-Brain) Syndrome" EXACT []
synonym: "Muscle Eye Brain Disease" EXACT []
synonym: "Muscle-Eye-Brain Diseases" EXACT []
synonym: "Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation" EXACT []
synonym: "Pagon syndrome" EXACT []
synonym: "Pagon syndromes" EXACT []
synonym: "WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY" NARROW []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related" EXACT []
synonym: "Warburg syndrome" EXACT []
xref: GARD:2599
xref: MESH:D058494
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9003328 ! Cobblestone Lissencephaly

[Term]
id: DOID:0050561
name: Lennox-Gastaut syndrome
alt_id: MESH:C535500
alt_id: MIM:606369
def: "A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood. (DO)" [https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome "DO"]
synonym: "childhood epileptic encephalopathy with diffuse slow spikes and waves" EXACT []
synonym: "epileptic encephalopathy, Lennox-Gastaut type" EXACT []
synonym: "Lennox-Gastaut syndromes" EXACT []
synonym: "Lennox syndrome" EXACT []
synonym: "macrocephaly and epileptic encephalopathy" EXACT []
xref: GARD:9912
xref: MESH:D065768
xref: NCI:C84816
xref: ORDO:2382
is_a: DOID:0050704 ! childhood electroclinical syndrome

[Term]
id: DOID:0050562
name: West syndrome
alt_id: OMIA:001471
def: "An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. (DO)" [https://rarediseases.org/rare-diseases/west-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24268986 "DO"]
synonym: "Cryptogenic Infantile Spasm" EXACT []
synonym: "cryptogenic infantile spasms" EXACT []
synonym: "Cryptogenic West Syndrome" EXACT []
synonym: "EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL DOMINANT" NARROW []
synonym: "EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL RECESSIVE" NARROW []
synonym: "Hypsarrhythmia" EXACT []
synonym: "hypsarrhythmias" EXACT []
synonym: "Infantile Spasm" EXACT []
synonym: "Infantile Spasms" EXACT []
synonym: "Infantile spasms syndrome" RELATED []
synonym: "Jackknife Seizure" EXACT []
synonym: "Jackknife Seizures" EXACT []
synonym: "Lightning Attack" EXACT []
synonym: "Lightning Attacks" EXACT []
synonym: "Neonatal encephalopathy with seizures" NARROW []
synonym: "Nodding Spasm" EXACT []
synonym: "Nodding Spasms" EXACT []
synonym: "Salaam Attacks" EXACT []
synonym: "Salaam Seizures" EXACT []
synonym: "Spasmus Nutans" EXACT []
synonym: "Symptomatic Infantile Spasm" EXACT []
synonym: "symptomatic infantile spasms" EXACT []
synonym: "symptomatic West syndrome" EXACT []
xref: GARD:7887
xref: MESH:D013036
xref: NCI:C84788
xref: ORDO:3451
is_a: DOID:0050703 ! infancy electroclinical syndrome
is_a: DOID:9001793 ! Generalized Epilepsy
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050563
name: nonsyndromic deafness
def: "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. (DO)" [http://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness "DO", http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "DO", http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742 "DO"]
synonym: "isolated deafness" EXACT []
synonym: "non-syndromic genetic deafness" NARROW []
synonym: "Nonsyndromic Hearing Impairment" EXACT []
synonym: "Nonsyndromic Hearing Loss" EXACT []
synonym: "nonsyndromic hearing loss and deafness" EXACT []
synonym: "nonsyndromic hearing loss and deafness, autosomal recessive" NARROW []
synonym: "nonsyndromic hereditary hearing loss" EXACT []
synonym: "undifferentiated deafness" EXACT []
xref: EFO:0009076
xref: MESH:C580334
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:0050564
name: autosomal dominant nonsyndromic deafness
def: "A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. (DO)" [http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "DO"]
synonym: "autosomal dominant deafness" EXACT []
synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING IMPAIRMENT" EXACT []
synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS" EXACT []
synonym: "AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA" EXACT []
synonym: "DOMINANT PROGRESSIVE SENSORINEURAL HEARING LOSS" NARROW []
xref: MIM:PS124900
xref: ORDO:90635
is_a: DOID:0050563 ! nonsyndromic deafness
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10003 ! sensorineural hearing loss
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050565
name: autosomal recessive nonsyndromic deafness
alt_id: MIM:607197
def: "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. (DO)" [http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "DO"]
comment: OMIM:607197 is an older phenotype record for this disease.
synonym: "autosomal recessive deafness" EXACT []
synonym: "AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB" EXACT []
xref: MESH:C564609
xref: MIM:PS220290
is_a: DOID:0050563 ! nonsyndromic deafness
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050566
name: X-linked nonsyndromic deafness
def: "A nonsyndromic deafness characterized by an X-linked inheritance mode. (DO)" [http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "DO"]
synonym: "X-linked deafness" EXACT []
xref: MIM:PS304500
xref: ORDO:90625
is_a: DOID:0050563 ! nonsyndromic deafness
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10003 ! sensorineural hearing loss
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:0050567
name: orofacial cleft
def: "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development. (DO)" [https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate "DO", https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-6.html "DO"]
synonym: "CLEFT LIP/PALATE" EXACT []
synonym: "cleft lip or cleft palate" EXACT []
synonym: "FACIAL CLEFT" NARROW []
synonym: "MEDIAN CLEFT LIP AND PALATE" NARROW []
synonym: "nonsyndromic cleft lip/palate" EXACT []
synonym: "nonsyndromic orofacial cleft" EXACT []
synonym: "OFC" EXACT []
synonym: "orofacial clefting" EXACT []
synonym: "orofacial clefts" EXACT []
xref: MIM:PS119530
xref: MONDO:0000358
is_a: DOID:0080015 ! physical disorder
is_a: DOID:225 ! syndrome
is_a: DOID:9000066 ! Jaw Abnormalities
is_a: DOID:9001018 ! Mouth Abnormalities
is_a: DOID:9297 ! lip disease
created_by: rgd
creation_date: 2017-03-22T00:00:00Z

[Term]
id: DOID:0050568
name: spondylocostal dysostosis
def: "A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. (DO)" [http://en.wikipedia.org/wiki/Spondylocostal_dysostosis "DO", http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis "DO"]
synonym: "costovertebral segmentation anomalies" EXACT []
synonym: "spondylothoracic dysplasia" EXACT []
xref: GARD:12174
xref: GARD:6798
xref: MIM:PS277300
xref: NCI:C125598
xref: ORDO:1797
xref: ORDO:2311
is_a: DOID:0060564 ! spinal disease
is_a: DOID:1934 ! dysostosis
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:0050569
name: Seckel syndrome
def: "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. (DO)" [http://en.wikipedia.org/wiki/Seckel_syndrome "DO"]
synonym: "bird-headed dwarfism" EXACT []
synonym: "Harper's syndrome" EXACT []
synonym: "microcephalic primordial dwarfism" EXACT []
synonym: "SCKL" EXACT []
synonym: "Virchow-Seckel dwarfism" EXACT []
xref: GARD:8562
xref: MIM:PS210600
xref: NCI:C125488
xref: ORDO:808
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:0050570
name: congenital disorder of glycosylation type I
def: "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. (DO)" [http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification "DO", https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation "DO"]
synonym: "congenital disorder of glycosylation type 1" EXACT []
xref: EFO:0005545
xref: MIM:PS212065
is_a: DOID:5212 ! congenital disorder of glycosylation
created_by: rgd
creation_date: 2016-11-01T00:00:00Z

[Term]
id: DOID:0050571
name: congenital disorder of glycosylation type II
def: "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. (DO)" [http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification "DO"]
synonym: "CDG II" EXACT []
synonym: "CDGII" EXACT []
synonym: "congenital disorder of glycosylation type 2" EXACT []
xref: EFO:0005546
xref: MESH:C535747
xref: MIM:PS212066
is_a: DOID:5212 ! congenital disorder of glycosylation
created_by: rgd
creation_date: 2016-11-01T00:00:00Z

[Term]
id: DOID:0050572
name: cone-rod dystrophy
def: "A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. (DO)" [http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy "DO"]
synonym: "autosomal recessive cone rod dystrophy" NARROW []
synonym: "cone-rod degeneration" EXACT []
synonym: "cone rod degenerations" EXACT []
synonym: "cone-rod dystrophies" EXACT []
synonym: "cone-rod dystrophy, dominant" NARROW []
synonym: "cone-rod dystrophy, recessive" NARROW []
synonym: "cone-rod retinal dystrophies" EXACT []
synonym: "cone rod retinal dystrophy" EXACT []
synonym: "CORD" EXACT []
synonym: "CRD" EXACT []
xref: EFO:0020029
xref: GARD:10790
xref: MESH:D000071700
xref: MIM:PS120970
xref: ORDO:1872
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:8501 ! fundus dystrophy
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0050573
name: 2-hydroxyglutaric aciduria
alt_id: OMIA:001371
def: "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (DO)" [http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria "DO", http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "DO"]
synonym: "2-Hga" EXACT []
synonym: "2-hydroxyglutaricaciduria" EXACT []
xref: GARD:10761
xref: MESH:C535306
xref: NCI:C128187
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0050574
name: L-2-hydroxyglutaric aciduria
def: "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). (DO)" [http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "DO"]
synonym: "L2HGA" EXACT []
synonym: "L2HGDH-RELATED CONDITION" EXACT []
synonym: "L-2-hydroxyglutaric acidemia" EXACT []
synonym: "L-2-hydroxyglutaricacidemia" EXACT []
xref: GARD:10472
xref: MIM:236792
xref: MONDO:0009370
xref: ORDO:79314
is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria
is_a: DOID:2786 ! cerebellar disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0050575
name: D-2-hydroxyglutaric aciduria
def: "An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. (DO)" [http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "DO"]
synonym: "D-2-alpha hydroxyglutaric aciduria" EXACT []
synonym: "D2HGA" EXACT []
xref: GARD:5661
xref: MIM:PS600721
is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0050576
name: Senior-Loken syndrome
def: "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. (DO)" [https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome "DO"]
synonym: "juvenile nephronophthisis with Leber amaurosis" EXACT []
synonym: "Renal Dysplasia And Retinal Aplasia" EXACT []
synonym: "Renal dysplasia retinal aplasia" EXACT []
synonym: "Renal-retinal syndrome" EXACT []
synonym: "Senior-Løken syndrome" EXACT []
xref: GARD:322
xref: MESH:C537580
xref: MIM:PS266900
xref: NCI:C168588
xref: ORDO:3156
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14791 ! Leber congenital amaurosis
is_a: DOID:225 ! syndrome
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:0050577
name: cranioectodermal dysplasia
def: "A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. (DO)" [https://en.wikipedia.org/wiki/Sensenbrenner_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/20817137/ "DO"]
synonym: "Levin syndrome" EXACT []
synonym: "Sensenbrenner syndrome" EXACT []
xref: MESH:C562966
xref: MIM:PS218330
xref: NCI:C129305
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:0050578
name: occult macular dystrophy
def: "A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. (DO)" [http://www.iovs.org/content/41/2/513.full.pdf "DO"]
synonym: "OCMD" EXACT []
synonym: "OMD" EXACT []
synonym: "RP1L1-RELATED CONDITION" BROAD []
xref: MIM:613587
xref: RDO:0009914
is_a: DOID:4448 ! macular degeneration

[Term]
id: DOID:0050579
name: glycogen storage disease XV
def: "A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. (DO)" [https://www.omim.org/entry/613507 "DO"]
synonym: "glycogenin deficiency" EXACT []
synonym: "glycogen storage disease 15" EXACT []
synonym: "glycogen storage disease type XV" EXACT []
synonym: "glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency" EXACT []
synonym: "GSD15" EXACT []
synonym: "GSD XV" EXACT []
synonym: "GYG1 deficiency" EXACT []
xref: MIM:613507
xref: MONDO:0013291
xref: ORDO:263297
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:0050580
name: hereditary lymphedema
alt_id: MESH:C565432
def: "A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. (DO)" [http://en.wikipedia.org/wiki/Milroy%27s_disease "DO"]
synonym: "congenital familial lymphedema" EXACT []
synonym: "congenital hereditary lymphedema" EXACT []
synonym: "congenital hereditary lymphedemas" EXACT []
synonym: "congenital recessive lymphedema" NARROW []
synonym: "hereditary lymphedemas" EXACT []
synonym: "PCL" EXACT []
synonym: "primary congenital lymphedema" EXACT []
synonym: "primary congenital lymphedemas" EXACT []
xref: GARD:7220
xref: ICD9CM:757.0
xref: MIM:PS153100
is_a: DOID:4977 ! lymphedema
is_a: DOID:630 ! genetic disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050581
name: brachydactyly
def: "A dysostosis characterized by short fingers and toes. (DO)" [http://en.wikipedia.org/wiki/Brachydactyly "DO"]
synonym: "Brachydactylia" EXACT []
synonym: "brachydactylias" EXACT []
synonym: "Brachydactylies" EXACT []
synonym: "Brachydactylism" EXACT []
synonym: "brachydactylisms" EXACT []
xref: GARD:11913
xref: MESH:D059327
xref: ORDO:294937
is_a: DOID:1934 ! dysostosis
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:0050584
name: gummatous syphilis
def: "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31437386 "DO"]
xref: RDO:9002603
is_a: DOID:8200 ! tertiary syphilis
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:0050585
name: congenital generalized lipodystrophy
def: "A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. (DO)" [https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy "DO"]
synonym: "Berardinelli Seip congenital lipodystrophy" EXACT []
synonym: "Berardinelli Seip syndrome" EXACT []
synonym: "Berardinelli syndrome" EXACT []
synonym: "Brunzell syndrome" EXACT []
synonym: "Brunzell Syndrome (with Bone Cysts)" EXACT []
synonym: "congenital generalized lipodystrophies" EXACT []
synonym: "congenital lipoatrophic diabetes" EXACT []
synonym: "generalized lipodystrophies" EXACT []
synonym: "generalized lipodystrophy" EXACT []
synonym: "Seip syndrome" EXACT []
synonym: "total lipodystrophies" EXACT []
synonym: "total lipodystrophy" EXACT []
xref: EFO:1000681
xref: GARD:13388
xref: MESH:D052497
xref: MIM:PS608594
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:0080298 ! complete generalized lipodystrophy

[Term]
id: DOID:0050587
name: trichotillomania
alt_id: MIM:613229
def: "An impulse control disorder that involves the uncontrollable plucking of ones hair. (DO)" [https://en.wikipedia.org/wiki/Trichotillomania "DO"]
synonym: "trichotillomanias" EXACT []
synonym: "TTM" EXACT []
xref: GARD:7803
xref: MESH:D014256
is_a: DOID:10937 ! impulse control disorder

[Term]
id: DOID:0050588
name: muscular dystrophy-dystroglycanopathy type B1
alt_id: DOID:9001544
def: "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. (DO)" [https://www.omim.org/entry/613155 "DO"]
synonym: "CMD due to dystroglycanopathy" EXACT []
synonym: "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B1" EXACT []
synonym: "congenital muscular dystrophy, POMT1-related" EXACT []
synonym: "MDDGB1" EXACT []
synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual impairment), type B, 1" EXACT []
synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1" EXACT []
synonym: "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" EXACT []
xref: MIM:613155
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B
is_a: DOID:1059 ! intellectual disability
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050589
name: inflammatory bowel disease
def: "An intestinal disease characterized by inflammation located in all parts of digestive tract. (DO)" [http://en.wikipedia.org/wiki/Inflammatory_bowel_disease "DO", http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908 "DO"]
synonym: "CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO" RELATED []
synonym: "EARLY-ONSET INFLAMMATORY BOWEL DISEASE" NARROW []
synonym: "Inflammatory bowel disease 1, susceptibility to" RELATED []
synonym: "inflammatory bowel diseases" EXACT []
synonym: "regional enteritis" NARROW []
synonym: "ulcerative colitis" NARROW []
synonym: "VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE" NARROW []
xref: EFO:0003767
xref: MESH:D015212
xref: MIM:PS266600
xref: MIM:PS614328
xref: MONDO:0005265
xref: NCI:C3138
is_a: DOID:2326 ! gastroenteritis
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:0050590
name: severe congenital neutropenia
def: "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. (DO)" [https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia "DO", https://www.ncbi.nlm.nih.gov/pubmed/17133096 "DO"]
synonym: "congenital neutropenia" EXACT []
synonym: "infantile genetic agranulocytosis" EXACT []
synonym: "primary neutropenia" EXACT []
synonym: "severe infantile genetic agranulocytosis" EXACT []
synonym: "severe infantile genetic neutropenia" EXACT []
xref: GARD:13592
xref: MIM:PS202700
xref: ORDO:42738
xref: ORDO:486
xref: ORDO:86788
is_a: DOID:0080015 ! physical disorder
is_a: DOID:1227 ! neutropenia
created_by: rgd
creation_date: 2016-01-14T00:00:00Z

[Term]
id: DOID:0050591
name: tooth agenesis
alt_id: MIM:147330
def: "A tooth disease characterized by failure to develop one or more missing teeth. (DO)" [http://en.wikipedia.org/wiki/Hypodontia "DO"]
synonym: "familial tooth agenesis" EXACT []
synonym: "hypodontia" EXACT []
synonym: "oligodontia" EXACT []
synonym: "reduced number of teeth" EXACT []
synonym: "selective tooth agenesis" EXACT []
xref: EFO:0005410
xref: MIM:PS106600
xref: NCI:C172328
xref: ORDO:2227
xref: ORDO:99798
is_a: DOID:9009007 ! Tooth Abnormalities
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050592
name: asphyxiating thoracic dystrophy
def: "A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. (DO)" [https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy "DO"]
synonym: "asphyxiating thoracic dystrophy (ATD)" EXACT []
synonym: "Jeune's syndrome" EXACT []
synonym: "Jeune syndrome" EXACT []
synonym: "Jeune thoracic dysplasia" EXACT []
synonym: "Jeune thoracic dystrophy" EXACT []
synonym: "short rib-polydactyly syndrome" EXACT []
synonym: "short rib polydactyly syndrome, Majewski type" EXACT []
synonym: "short rib-polydactyly syndromes" EXACT []
synonym: "short ribs" NARROW []
synonym: "short-rib thoracic dysplasia with or without polydactyly" EXACT []
synonym: "thoracic pelvic phalangeal dystrophy" EXACT []
xref: MESH:D012779
xref: MIM:PS208500
xref: NCI:C84794
xref: ORDO:474
is_a: DOID:1148 ! polydactyly
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0050593
name: primary congenital glaucoma
def: "A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities. (DO)" [https://ghr.nlm.nih.gov/condition/early-onset-glaucoma "DO"]
xref: NCI:C150251
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:1686 ! glaucoma
is_a: DOID:9002525 ! Hereditary Eye Diseases
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050594
name: glycogen storage disease IX
def: "A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25266922/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/17689125 "DO"]
synonym: "Glycogen storage disease 9" EXACT []
synonym: "Gsd Ix" EXACT []
synonym: "Gsdix" EXACT []
synonym: "Phk Deficiency" EXACT []
synonym: "Phosphorylase B Kinase Deficiency" EXACT []
synonym: "Phosphorylase Kinase Deficiency" EXACT []
xref: MESH:C580130
xref: RDO:0015892
is_a: DOID:1168 ! familial hyperlipidemia
is_a: DOID:2747 ! glycogen storage disease
is_a: DOID:409 ! liver disease
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:0050596
name: taeniasis
def: "A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat. (DO)" [http://en.wikipedia.org/wiki/Taeniasis "DO"]
synonym: "beef tapeworm infection" EXACT []
synonym: "infection by Taeniarhynchus saginatus" EXACT []
synonym: "taenia infection" EXACT []
synonym: "taenia infections" EXACT []
synonym: "taenia saginata infectious disease" EXACT []
synonym: "taeniases" EXACT []
xref: EFO:1001433
xref: ICD10CM:B68.1
xref: ICD9CM:123.2
xref: MESH:D013622
is_a: DOID:9006970 ! Cestode Infections

[Term]
id: DOID:0050597
name: intestinal schistosomiasis
def: "A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. (DO)" [http://en.wikipedia.org/wiki/Schistosomiasis "DO"]
synonym: "intestinal schistosomiases" EXACT []
xref: EFO:1001419
xref: ICD10CM:B65.1
xref: ICD10CM:B65.2
xref: ICD9CM:120.1
xref: ICD9CM:120.2
xref: NCI:C35364
xref: ORDO:1247
is_a: DOID:1395 ! schistosomiasis
is_a: DOID:5295 ! intestinal disease
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050598
name: extrapulmonary tuberculosis
def: "A tuberculosis that occurs at body sites other than the lung. (DO)" [https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"]
xref: MESH:D000092225
is_a: DOID:399 ! tuberculosis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0050599
name: abdominal tuberculosis
def: "An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. (DO)" [https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"]
is_a: DOID:0050598 ! extrapulmonary tuberculosis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0050600
name: ABCD syndrome
def: "A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). (DO)" [http://en.wikipedia.org/wiki/ABCD_syndrome "DO", http://omim.org/entry/600501 "DO"]
synonym: "ABCDS" EXACT []
synonym: "albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness" EXACT []
xref: MESH:C535334
xref: MIM:600501
xref: MONDO:0010895
xref: ORDO:918
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9258 ! Waardenburg syndrome

[Term]
id: DOID:0050601
name: ADULT syndrome
def: "A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16114047/ "DO"]
synonym: "acro-dermato-ungual-lacrimal-tooth syndrome" EXACT []
synonym: "pigment anomaly ectrodactyly hypodontia" EXACT []
synonym: "propping Zerres syndrome" EXACT []
xref: GARD:384
xref: MESH:C538052
xref: MIM:103285
xref: MONDO:0007072
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:13714 ! anodontia
is_a: DOID:13929 ! lacrimal duct obstruction
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:0050602
name: triple-A syndrome
alt_id: MIM:231550
def: "A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system. (DO)" [https://ghr.nlm.nih.gov/condition/triple-a-syndrome "DO"]
synonym: "AAAS" EXACT []
synonym: "AAA syndrome" EXACT []
synonym: "ACHALASIA-ADDISONIANISM-ALACRIMA (TRIPLE-A) SYNDROME" EXACT []
synonym: "achalasia-addisonianism-alacrima syndrome" EXACT []
synonym: "Achalasia Addisonianism Alacrimia Syndrome" EXACT []
synonym: "Achalasia-Addisonian Syndrome" EXACT []
synonym: "Achalasia-Alacrima Syndrome" EXACT []
synonym: "Achalasia alacrimia syndrome" EXACT []
synonym: "Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima" EXACT []
synonym: "ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA  ACHALASIA-ALACRIMA SYNDROME" NARROW []
synonym: "Alacrima-Achalasia-Addisonianism" EXACT []
synonym: "Alacrima-achalasia-adrenal insufficiency neurologic disorder" EXACT []
synonym: "Allgrove syndrome" EXACT []
synonym: "glucocorticoid deficiency and achalasia" EXACT []
synonym: "GLUCOCORTICOID DEFICIENCY WITH ACHALASIA" EXACT []
synonym: "hypoadrenalism with achalasia" EXACT []
synonym: "infantile achalasia with alacrima" EXACT []
xref: EFO:1001997
xref: GARD:457
xref: MESH:C536008
xref: MONDO:0009279
xref: NCI:C35710
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008622 ! Adrenal Insufficiency
is_a: DOID:9164 ! achalasia

[Term]
id: DOID:0050603
name: acheiropody
alt_id: MIM:200500
def: "An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. (DO)" [https://en.wikipedia.org/wiki/Acheiropodia "DO"]
synonym: "acheiropodia" EXACT []
synonym: "ACHP" EXACT []
synonym: "Brazilian type acheiropody" EXACT []
synonym: "Horn-Kolb syndrome" EXACT []
xref: GARD:376
xref: MESH:C536014
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0050604
name: acrocapitofemoral dysplasia
alt_id: MIM:607778
def: "An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. (DO)" [https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia "DO"]
synonym: "ACFD" EXACT []
synonym: "IHH-RELATED CONDITION" BROAD []
xref: GARD:10605
xref: MESH:C564334
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:0050605
name: acrodermatitis enteropathica
def: "A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency. (DO)" [https://en.wikipedia.org/wiki/Acrodermatitis_enteropathica "DO"]
synonym: "Acrodermatitis enteropathica zinc deficiency type" EXACT []
synonym: "AEZ" EXACT []
synonym: "hereditary acrodermatitis enteropathica" NARROW []
synonym: "SLC39A4-related condition" BROAD []
xref: GARD:5723
xref: MESH:C538178
xref: MIM:201100
xref: MONDO:0008713
xref: NCI:C128802
is_a: DOID:2722 ! acrodermatitis
is_a: DOID:896 ! metal metabolism disorder
is_a: DOID:9003921 ! Zinc Deficiency

[Term]
id: DOID:0050606
name: acrokeratosis verruciformis
def: "A keratosis that has_material_basis_in mutations in the ATP2A2 gene. (DO)" [https://en.wikipedia.org/wiki/Acrokeratosis_verruciformis "DO"]
synonym: "acrokeratosis verruciformis of Hopf" EXACT []
synonym: "AKV" EXACT []
synonym: "Hopf acrokeratosis verruciformis" EXACT []
synonym: "Hopf disease" EXACT []
xref: EFO:1000666
xref: MIM:101900
xref: MONDO:0007048
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:161 ! keratosis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0050608
name: Askin's tumor
def: "An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. (DO)" [https://en.wikipedia.org/wiki/Askin%27s_tumor "DO"]
synonym: "Askin's tumour" EXACT []
synonym: "Askin tumor" EXACT []
synonym: "Askin tumour" EXACT []
xref: EFO:1000095
xref: MESH:C563168
is_a: DOID:3369 ! Ewing sarcoma
is_a: DOID:9004389 ! Bone Neoplasms

[Term]
id: DOID:0050610
name: oral cavity carcinoma in situ
def: "An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma. (DO)" [https://www.dermnetnz.org/topics/carcinoma-in-situ-of-oral-cavity/ "DO"]
is_a: DOID:1542 ! head and neck carcinoma
is_a: DOID:403 ! mouth disease
is_a: DOID:8618 ! oral cavity cancer
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:0050611
name: pharynx carcinoma in situ
def: "An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharyngeal-cancer "DO"]
xref: RDO:9003566
is_a: DOID:1542 ! head and neck carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:0050612
name: gallbladder carcinoma in situ
def: "An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma. (DO)" [https://en.wikipedia.org/wiki/Gallbladder_cancer "DO", https://www.cancer.org/cancer/gallbladder-cancer/detection-diagnosis-staging/staging.html "DO"]
synonym: "gall bladder carcinoma in situ" EXACT []
is_a: DOID:4948 ! gallbladder carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:0050613
name: bile duct carcinoma in situ
def: "An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma. (DO)" [https://en.wikipedia.org/wiki/Cholangiocarcinoma "DO"]
xref: RDO:9003568
is_a: DOID:4897 ! bile duct carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:0050614
name: bronchus carcinoma in situ
def: "An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10858385 "DO"]
xref: RDO:9003570
is_a: DOID:3904 ! bronchus carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:0050615
name: respiratory system cancer
def: "An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. (DO)" [http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm "DO"]
xref: RDO:9002222
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:9003744 ! Respiratory Tract Neoplasms
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:0050619
name: paranasal sinus cancer
def: "A respiratory system cancer that is located_in the paranasal sinuses. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1 "DO"]
synonym: "adenoid cystic carcinoma of Accessory sinus" EXACT [NCI2004_11_17:C6019]
synonym: "adenoid cystic carcinoma of paranasal sinus" RELATED []
synonym: "cancer of paranasal sinus" EXACT []
synonym: "epidermoid carcinoma of the paranasal sinus" EXACT [NCI2004_11_17:C8193]
synonym: "mucoepidermoid carcinoma of accessory sinus" EXACT [NCI2004_11_17:C6018]
synonym: "paranasal sinus adenocarcinoma" EXACT []
synonym: "paranasal sinus adenoid cystic carcinoma" EXACT []
synonym: "paranasal sinus cancers" EXACT []
synonym: "paranasal sinus mucoepidermoid carcinoma" EXACT []
synonym: "paranasal sinus squamous cell carcinoma" EXACT []
synonym: "squamous cell carcinoma of paranasal sinus" RELATED []
xref: EFO:1000454
xref: NCI:C6014
xref: NCI:C6017
xref: NCI:C6018
xref: NCI:C6019
xref: NCI:C8193
is_a: DOID:0050615 ! respiratory system cancer
is_a: DOID:9000118 ! Paranasal Sinus Neoplasms
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:0050620
name: infiltrating renal pelvis transitional cell carcinoma
def: "A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis. (DO)" [https://en.wikipedia.org/wiki/Transitional_cell_carcinoma "DO"]
is_a: DOID:5974 ! renal pelvis transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:0050621
name: respiratory system benign neoplasm
def: "An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm. (DO)" [http://en.wikipedia.org/wiki/Respiratory_system "DO"]
xref: RDO:9002406
is_a: DOID:0060085 ! organ system benign neoplasm
is_a: DOID:9003744 ! Respiratory Tract Neoplasms

[Term]
id: DOID:0050622
name: reproductive organ benign neoplasm
def: "An organ system benign neoplasm that is located_in reproductive system organs. (DO)" [http://en.wikipedia.org/wiki/Reproductive_system "DO"]
is_a: DOID:0060085 ! organ system benign neoplasm
is_a: DOID:15 ! reproductive system disease
is_a: DOID:9007150 ! Urogenital Neoplasms
is_a: DOID:9008651 ! reproductive system neoplasm

[Term]
id: DOID:0050623
name: bladder benign neoplasm
def: "A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1398414/ "DO"]
is_a: DOID:731 ! urinary system benign neoplasm
is_a: DOID:9009116 ! Urinary Bladder Neoplasm
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050624
name: gastrointestinal system benign neoplasm
def: "An organ system benign neoplasm located_in gastrointestinal tract organs. (DO)" [http://en.wikipedia.org/wiki/Human_gastrointestinal_tract "DO"]
is_a: DOID:0060085 ! organ system benign neoplasm
is_a: DOID:9006796 ! Gastrointestinal Neoplasms
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050625
name: biliary tract benign neoplasm
def: "A hepatobiliary benign neoplasm located_in the biliary tract. (DO)" [http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract "DO"]
synonym: "biliary tract neoplasms" EXACT []
synonym: "extrahepatic bile duct neoplasm" EXACT []
synonym: "neoplasm of extrahepatic bile ducts" EXACT []
synonym: "tumor of the extrahepatic bile duct" EXACT []
xref: EFO:0003891
xref: MESH:D001661
xref: NCI:C4441
is_a: DOID:3117 ! hepatobiliary benign neoplasm
is_a: DOID:9741 ! biliary tract disease

[Term]
id: DOID:0050626
name: gastrointestinal neuroendocrine tumor
def: "A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. (DO)" [http://en.wikipedia.org/wiki/Neuroendocrine_tumor "DO", http://www.cancer.gov/dictionary?CdrID=44904 "DO"]
synonym: "gastrointestinal neuroendocrine tumour" EXACT []
synonym: "malignant gastrointestinal neuroendocrine tumor" EXACT []
synonym: "malignant gastrointestinal neuroendocrine tumour" EXACT []
is_a: DOID:3119 ! gastrointestinal system cancer

[Term]
id: DOID:0050628
name: advanced sleep phase syndrome
def: "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. (DO)" [http://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome "DO"]
synonym: "circadian rhythm sleep disorders" EXACT []
synonym: "disturbed nyctohemeral rhythm" EXACT []
synonym: "disturbed nyctohemeral rhythms" EXACT []
synonym: "familial advanced sleep-phase syndrome" EXACT []
synonym: "non 24 hour sleep wake disorder" EXACT []
synonym: "nonorganic sleep wake cycle disorders" EXACT []
synonym: "Shift Work Sleep Disorder" EXACT []
synonym: "Shift-Work Sleep Disorders" EXACT []
synonym: "sleep-wake cycle disorder" EXACT []
synonym: "sleep wake cycle disorders" EXACT []
synonym: "sleep-wake schedule disorder" EXACT []
synonym: "sleep wake schedule disorders" EXACT []
xref: MESH:D020178
xref: MIM:PS604348
xref: ORDO:164736
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:535 ! sleep disorder
is_a: DOID:9002111 ! Dyssomnias
is_a: DOID:9004980 ! Chronobiology Disorders
is_a: DOID:9005463 ! Occupational Diseases

[Term]
id: DOID:0050629
name: Aicardi-Goutieres syndrome
def: "A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. (DO)" [http://omim.org/entry/225750 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1475/ "DO", https://agsaa.org/about-ags "DO"]
synonym: "AGS" EXACT []
synonym: "Cree encephalitis" EXACT []
synonym: "encephalopathy with basal ganglia calcification" EXACT []
synonym: "familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis" EXACT []
synonym: "pseudotoxoplasmosis syndrome" EXACT []
xref: GARD:575
xref: ICD10CM:G31.8
xref: MESH:C535607
xref: MIM:PS225750
xref: ORDO:51
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:0060230 ! basal ganglia calcification
is_a: DOID:438 ! autoimmune disease of the nervous system
is_a: DOID:9006534 ! Nervous System Malformations

[Term]
id: DOID:0050630
name: Aland Island eye disease
alt_id: MIM:300600
def: "An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene. (DO)" [https://www.omim.org/entry/300600 "DO"]
synonym: "AIED" EXACT []
synonym: "Forsius-Eriksson syndrome" EXACT []
synonym: "Forsius-Eriksson type ocular albinism" EXACT []
synonym: "ocular albinism, type II" EXACT []
xref: GARD:10574
xref: MESH:C562664
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:5679 ! retinal disease
is_a: DOID:9001386 ! Albinism

[Term]
id: DOID:0050631
name: Allan-Herndon-Dudley syndrome
def: "A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13. (DO)" [http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome "DO", http://omim.org/entry/300523 "DO"]
synonym: "AHDS" EXACT []
synonym: "Allan-Herndon syndrome" EXACT []
synonym: "MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency" EXACT []
synonym: "mental retardation and muscular atrophy" EXACT []
synonym: "Monocarboxylate Transporter 8 (Mct8) Deficiency" EXACT []
synonym: "Monocarboxylate transporter-8 deficiency" EXACT []
synonym: "T3 resistance" EXACT []
synonym: "triiodothyronine resistance" EXACT []
synonym: "X-linked mental retardation with hypotonia" EXACT []
xref: GARD:5617
xref: MESH:C537047
xref: MIM:300523
xref: MONDO:0010354
xref: NCI:C118843
xref: ORDO:59
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:767 ! muscular atrophy
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:0050632
name: oculocutaneous albinism
def: "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes. (DO)" [http://en.wikipedia.org/wiki/Oculocutaneous_albinism "DO", http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism "DO"]
synonym: "tyrosinase-negative albinism" EXACT []
synonym: "tyrosinase-positive albinism" EXACT []
synonym: "yellow mutant albinism" EXACT []
xref: GARD:10958
xref: MESH:D016115
xref: MIM:PS203100
xref: ORDO:55
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001386 ! Albinism

[Term]
id: DOID:0050633
name: ocular albinism 1
alt_id: DOID:9005467
alt_id: MESH:C537863
alt_id: MIM:300500
def: "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. (DO)" [https://ghr.nlm.nih.gov/condition/ocular-albinism "DO"]
synonym: "GPR143-RELATED CONDITION" BROAD []
synonym: "Nettleship-Falls type ocular albinism" EXACT []
synonym: "OA1" EXACT []
synonym: "ocular albinism" EXACT []
synonym: "Ocular Albinism Type 1" EXACT []
synonym: "ocular albinism type I" EXACT []
xref: MESH:D016117
xref: NCI:C118785
is_a: DOID:9001386 ! Albinism

[Term]
id: DOID:0050634
name: alopecia universalis
alt_id: MIM:203655
def: "An alopecia characterized by the complete loss of hair on the scalp and body. (DO)" [https://rarediseases.info.nih.gov/diseases/614/alopecia-universalis "DO"]
synonym: "alopecia universalis congenita" EXACT []
synonym: "ALUNC" EXACT []
synonym: "generalized atrichia" EXACT []
xref: GARD:614
xref: MESH:C537055
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:987 ! alopecia

[Term]
id: DOID:0050635
name: alternating hemiplegia of childhood
def: "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. (DO)" [http://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood "DO", http://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood "DO"]
synonym: "AHC" EXACT []
synonym: "alternating hemiplegia" EXACT []
synonym: "alternating hemiplegia syndrome" EXACT []
xref: GARD:11
xref: ICD10CM:G98
xref: MESH:C536589
xref: MIM:PS104290
xref: ORDO:2131
is_a: DOID:10969 ! hemiplegia

[Term]
id: DOID:0050636
name: familial visceral amyloidosis
def: "An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. (DO)" [https://en.wikipedia.org/wiki/Familial_renal_amyloidosis "DO"]
synonym: "AFIB AMYLOIDOSIS" NARROW []
synonym: "AMYLD2" NARROW []
synonym: "amyloidosis 8" EXACT []
synonym: "amyloidosis VIII" EXACT []
synonym: "cardiac and cutaneous amyloidosis" NARROW []
synonym: "familial renal amyloidosis" NARROW []
synonym: "German type amyloidosis" EXACT []
synonym: "hereditary systemic amyloidosis-2" NARROW []
synonym: "Ostertag type amyloidosis" EXACT []
synonym: "systemic nonneuropathic amyloidosis" EXACT []
xref: GARD:8282
xref: MESH:C538249
xref: MIM:105200
xref: MONDO:0007099
xref: ORDO:85450
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9004492 ! Familial Amyloidosis

[Term]
id: DOID:0050637
name: Finnish type amyloidosis
alt_id: MIM:105120
def: "An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. (DO)" [https://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type "DO"]
synonym: "AGel amyloidosis" EXACT []
synonym: "amyloid cranial neuropathy with lattice corneal dystrophy" EXACT []
synonym: "amyloidosis 5" EXACT []
synonym: "amyloidosis due to mutant gelsolin" EXACT []
synonym: "amyloidosis V" EXACT []
synonym: "cerebral amyloid angiopathy, GSN-related" EXACT []
synonym: "CORNEAL DYSTROPHY, LATTICE TYPE II" NARROW []
synonym: "Familial Amyloidosis, Finnish Type" EXACT []
synonym: "Familial Amyloid Polyneuropathy Type Iv" EXACT []
synonym: "Finnish type familial amyloid neuropathy" EXACT []
synonym: "gelsolin amyloidosis" EXACT []
synonym: "gelsolin-related Amyloidosis" EXACT []
synonym: "GSN-RELATED CONDITION" EXACT []
synonym: "Kymenlaakso syndrome" EXACT []
synonym: "lattice corneal dystrophy associated with familial systemic amyloidosis" EXACT []
synonym: "lattice corneal dystrophy, Gelsolin type" EXACT []
synonym: "lattice dystrophy of the cornea with hereditary generalized amyloidosis" EXACT []
synonym: "LCD2" NARROW []
synonym: "Meretoja's syndrome" EXACT []
synonym: "Meretoja syndrome" EXACT []
synonym: "Meretoja type amyloidosis" EXACT []
xref: GARD:2339
xref: MESH:C537459
xref: ORDO:85448
is_a: DOID:0050639 ! primary cutaneous amyloidosis
is_a: DOID:8943 ! lattice corneal dystrophy

[Term]
id: DOID:0050638
name: transthyretin amyloidosis
alt_id: DOID:0050761
alt_id: MIM:105210
def: "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. (DO)" [http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis "DO", http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis "DO", http://www.ncbi.nlm.nih.gov/books/NBK1194/ "DO", http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451 "DO", http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25 "DO", https://www.ncbi.nlm.nih.gov/books/NBK1194/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/19372706 "DO"]
synonym: "amyloid cardiomyopathy, transthyretin-related" NARROW []
synonym: "amyloidogenic transthyretin amyloidosis" EXACT []
synonym: "AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED" NARROW []
synonym: "AMYLOID POLYNEUROPATHY, FAMILIAL" NARROW []
synonym: "ATTR amyloidosis" EXACT []
synonym: "ATTRm amyloidosis" EXACT []
synonym: "Corino de Andrade's disease" EXACT []
synonym: "familial transthyretin amyloidosis" EXACT []
synonym: "familial transthyretin cardiac amyloidosis" EXACT []
synonym: "hereditary amyloidosis, transthyretin-related" EXACT []
synonym: "hereditary amyloidosis, transthyretin-related, modifier of" RELATED []
synonym: "leptomeningeal FAP amyloidosis, transthyretin-related" NARROW []
synonym: "paramyloidosis" EXACT []
synonym: "TTR amyloidosis" EXACT []
xref: EFO:0004129
xref: GARD:656
xref: ICD10CM:E85.82
xref: MESH:C567782
xref: ORDO:85447
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:114 ! heart disease
is_a: DOID:9001512 ! Familial Amyloid Polyneuropathies

[Term]
id: DOID:0050639
name: primary cutaneous amyloidosis
alt_id: MESH:C562643
def: "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19663869 "DO"]
synonym: "Amyloidosis IX" EXACT []
synonym: "familial cutaneous lichen amyloidosis" EXACT []
synonym: "familial lichen amyloidosis" EXACT []
synonym: "familial primary localized cutaneous amyloidosis" EXACT []
synonym: "PCA" EXACT []
synonym: "primary localized cutaneous amyloidosis" EXACT []
xref: GARD:132
xref: MESH:C562642
xref: MIM:PS105250
xref: ORDO:137807
xref: ORDO:353220
is_a: DOID:9004492 ! Familial Amyloidosis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0050640
name: anauxetic dysplasia 1
alt_id: MIM:607095
def: "An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16252239/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK84550/ "DO"]
synonym: "ANXD" EXACT []
synonym: "ANXD1" EXACT []
synonym: "Spondylometaepiphyseal dysplasia, Anauxetic type" EXACT []
synonym: "Spondylometaepiphyseal dysplasia, Menger type" EXACT []
xref: GARD:9657
xref: MESH:C538256
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080942 ! anauxetic dysplasia

[Term]
id: DOID:0050641
name: Rh deficiency syndrome
alt_id: MESH:C564833
alt_id: MIM:268150
def: "A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12. (DO)" [https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/3103426 "DO"]
synonym: "RHAG-RELATED CONDITION" BROAD []
synonym: "RHD NEGATIVE" NARROW []
synonym: "RH-mod syndrome" EXACT []
synonym: "RHN" EXACT []
synonym: "Rh-null disease" EXACT []
synonym: "RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE" EXACT []
synonym: "Rh-null, regulator type" EXACT []
synonym: "Rh-null syndrome" EXACT []
xref: GARD:12916
xref: MESH:C562717
is_a: DOID:225 ! syndrome
is_a: DOID:583 ! hemolytic anemia

[Term]
id: DOID:0050642
name: hypochromic microcytic anemia
def: "A microcytic anemia characterized by paler than normal blood cells. (DO)" [http://en.wikipedia.org/wiki/Hypochromic_anemia "DO"]
xref: MESH:C536357
xref: RDO:0001912
is_a: DOID:11252 ! microcytic anemia
is_a: DOID:11759 ! hypochromic anemia

[Term]
id: DOID:0050644
name: arterial calcification of infancy
def: "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. (DO)" [http://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification "DO", http://www.omim.org/entry/208000 "DO"]
synonym: "ARTERIOPATHY, OCCLUSIVE INFANTILE CORONARY SCLEROSIS, MEDIAL, OF INFANCY" NARROW []
synonym: "GACI" EXACT []
synonym: "generalized arterial calcification in infancy" EXACT []
synonym: "generalized arterial calcification, of infancy" EXACT []
synonym: "idiopathic infantile arterial calcification" EXACT []
synonym: "IIAC" EXACT []
synonym: "infantile arteriosclerosis" EXACT []
synonym: "occlusive infantile arteriopathy" EXACT []
xref: GARD:8380
xref: MESH:C537440
xref: MIM:PS208000
xref: ORDO:51608
is_a: DOID:0050828 ! artery disease
is_a: DOID:9006332 ! Vascular Calcification

[Term]
id: DOID:0050645
name: arterial tortuosity syndrome
alt_id: MIM:208050
def: "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. (DO)" [http://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome "DO", http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome "DO"]
synonym: "arterial tortuosity" EXACT []
synonym: "ATS" EXACT []
xref: GARD:774
xref: MESH:C565942
is_a: DOID:225 ! syndrome
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9003191 ! Vascular Malformations
is_a: DOID:9005077 ! Joint Instability
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0050646
name: distal arthrogryposis
def: "A muscle tissue disease characterized by congenital joint contractures of hand and feet. (DO)" [http://en.wikipedia.org/wiki/Arthrogryposis "DO"]
synonym: "DISTAL ARTHROGRYPOSIS AND CNS INVOLVEMENT" NARROW []
synonym: "distal arthrogryposis multiplex congenita" EXACT []
xref: GARD:786
xref: MIM:PS108120
xref: ORDO:1147
xref: ORDO:97120
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:66 ! muscle tissue disease
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050647
name: Arts syndrome
alt_id: MIM:301835
def: "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. (DO)" [http://ghr.nlm.nih.gov/condition/arts-syndrome "DO", http://www.ncbi.nlm.nih.gov/books/NBK2591/ "DO", http://www.omim.org/entry/301835 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301738 "DO"]
synonym: "ARTS" EXACT []
synonym: "fatal X-linked ataxia with deafness and loss of vision" EXACT []
synonym: "lethal ataxia-deafness-optic atrophy" EXACT []
synonym: "lethal ataxia with deafness and optic atrophy" EXACT []
synonym: "MRXS18" EXACT []
synonym: "MRXSARTS" EXACT []
synonym: "syndromic X-linked mental retardation 18" EXACT []
synonym: "syndromic X-linked mental retardation Arts type" EXACT []
xref: GARD:8756
xref: MESH:C535388
xref: ORDO:1187
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9005165 ! Deaf-Blind Disorders

[Term]
id: DOID:0050648
name: atelosteogenesis
def: "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. (DO)" [https://link.springer.com/chapter/10.1007/978-1-60327-161-5_17 "DO", https://rarediseases.info.nih.gov/diseases/9287/atelosteogenesis-type-1 "DO"]
xref: MIM:PS108720
is_a: DOID:0060564 ! spinal disease
is_a: DOID:2256 ! osteochondrodysplasia
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050649
name: atransferrinemia
alt_id: MIM:209300
def: "A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. (DO)" [https://en.wikipedia.org/wiki/Atransferrinemia "DO", https://www.ncbi.nlm.nih.gov/pubmed/29969719 "DO", https://www.omim.org/entry/209300 "DO"]
synonym: "Congenital Atransferrinemia" EXACT []
synonym: "Familial hypotransferrinemia" EXACT []
synonym: "TRANSFERRIN VARIANT CHI" RELATED []
xref: GARD:9595
xref: MESH:C538259
xref: NCI:C125693
xref: ORDO:1195
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:0050650
name: familial atrial fibrillation
def: "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. (DO)" [http://en.wikipedia.org/wiki/Familial_atrial_fibrillation "DO"]
synonym: "ATFB" EXACT []
synonym: "familial atrial fibrillations" EXACT []
xref: GARD:9740
xref: MIM:PS608583
xref: ORDO:334
is_a: DOID:0060224 ! atrial fibrillation
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050651
name: atrioventricular septal defect
alt_id: MIM:606215
def: "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. (DO)" [http://en.wikipedia.org/wiki/Atrioventricular_septal_defect "DO", http://www.cdc.gov/ncbddd/heartdefects/avsd.html "DO"]
synonym: "Atrioventricular Canal Defect" EXACT []
synonym: "atrioventricular septal defect, somatic" NARROW []
synonym: "atrioventricular septal defect, susceptibility to, 1" NARROW []
synonym: "AVCD" EXACT []
synonym: "AVC defect" EXACT []
synonym: "AVSD" EXACT []
synonym: "AVSD1" NARROW []
synonym: "ECD" EXACT []
synonym: "endocardial cushion defect" EXACT []
xref: GARD:802
xref: ICD10CM:Q21.2
xref: ICD9CM:745.6
xref: MESH:C562831
xref: MIM:PS606215
xref: NCI:C101029
xref: ORDO:98722
is_a: DOID:1657 ! ventricular septal defect
is_a: DOID:1882 ! atrial heart septal defect

[Term]
id: DOID:0050654
name: Baller-Gerold syndrome
alt_id: MIM:218600
def: "A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. (DO)" [http://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome "DO", http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome "DO", http://www.ncbi.nlm.nih.gov/books/NBK1204/ "DO"]
synonym: "BGS" EXACT []
synonym: "craniosynostosis-radial aplasia syndrome" EXACT []
synonym: "craniosynostosis with radial defects" EXACT []
xref: GARD:1602
xref: MESH:C536788
xref: ORDO:1223
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:0050655
name: Bamforth-Lazarus syndrome
alt_id: MIM:241850
def: "A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. (DO)" [https://rarediseases.info.nih.gov/diseases/414/bamforth-syndrome "DO"]
synonym: "athyroidal hypothyroidism with spiky hair and cleft palate" EXACT []
synonym: "Bamforth syndrome" EXACT []
synonym: "BAMLAZ" EXACT []
synonym: "Hypothyroidism cleft palate" EXACT []
synonym: "hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate" EXACT []
synonym: "thyroidal hypothyroidism with spiky hair and cleft palate" EXACT []
xref: MESH:C537901
is_a: DOID:1459 ! hypothyroidism
is_a: DOID:421 ! hair disease
is_a: DOID:674 ! cleft palate
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0050656
name: pseudo-TORCH syndrome 1
alt_id: MESH:C537905
def: "A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20727516 "DO"]
synonym: "band-like calcification with simplified gyration and polymicrogyria" EXACT []
synonym: "Baraitser-Brett-Piesowicz syndrome" EXACT []
synonym: "Baraitser-Reardon syndrome" EXACT []
synonym: "bilateral band-like calcification with polymicrogyria" EXACT []
synonym: "BLC-PMG" EXACT []
synonym: "BLCPMG" EXACT []
synonym: "Microcephaly intracranial calcification" EXACT []
synonym: "microcephaly-intracranial calcification-intellectual disability syndrome" EXACT []
synonym: "PTORCH1" EXACT []
xref: GARD:12426
xref: MIM:251290
xref: ORDO:1229
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10907 ! microcephaly
is_a: DOID:9002061 ! Pseudo-TORCH Syndrome

[Term]
id: DOID:0050657
name: Bannayan-Riley-Ruvalcaba syndrome
def: "A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. (DO)" [https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome "DO", https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1488/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/31062505 "DO"]
synonym: "Bannayan-Zonana syndrome" EXACT []
synonym: "BRRS" EXACT []
synonym: "BZS" EXACT []
synonym: "Cowden syndrome 1" EXACT []
synonym: "CWS1" EXACT []
synonym: "macrocephaly, multiple lipomas and hemangiomata" EXACT []
synonym: "macrocephaly, pseudopapilledema and multiple hemangiomas" EXACT []
synonym: "macrocephaly, pseudopapilledema, and multiple hemangiomata" EXACT []
synonym: "Riley-Smith syndrome" EXACT []
synonym: "RMSS" EXACT []
synonym: "Ruvalcaba Myhre Smith syndrome" EXACT []
xref: GARD:5887
xref: MIM:158350
xref: NCI:C3939
xref: ORDO:109
is_a: DOID:255 ! hemangioma
is_a: DOID:6457 ! Cowden syndrome
is_a: DOID:9003816 ! Macrocephaly
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0050658
name: Bart-Pumphrey syndrome
alt_id: MIM:149200
def: "A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. (DO)" [https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome "DO"]
synonym: "BAPS" EXACT []
synonym: "knuckle pads, leukonychia, and sensorineural deafness" EXACT []
synonym: "knuckle pads, leukonychia, deafness, and keratosis palmoplantaris" EXACT []
xref: MESH:C537210
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0050659
name: biotin-responsive basal ganglia disease
alt_id: MIM:607483
def: "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia. (DO)" [https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease "DO", https://www.ncbi.nlm.nih.gov/books/NBK169615/ "DO"]
synonym: "BBGD" EXACT []
synonym: "BBTGD" EXACT []
synonym: "biotin ganglia disease, biotin-thiamine responsive" EXACT []
synonym: "biotin-thiamine-responsive basal ganglia disease" EXACT []
synonym: "BTBGD" EXACT []
synonym: "ENCEPHALOPATHY, THIAMINE-RESPONSIVE" EXACT []
synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)" EXACT []
synonym: "THMD2" EXACT []
xref: MESH:C537658
is_a: DOID:679 ! basal ganglia disease

[Term]
id: DOID:0050660
name: Beare-Stevenson cutis gyrata syndrome
alt_id: MIM:123790
def: "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. (DO)" [https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome "DO"]
synonym: "Beare-Stevenson syndrome" EXACT []
synonym: "BSTVS" EXACT []
synonym: "cutis gyrata syndrome of Beare and Stevenson" EXACT []
synonym: "cutis gyrata syndrome of Beare-Stevenson" EXACT []
xref: GARD:332
xref: MESH:C565129
xref: NCI:C123813
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:3136 ! scalp dermatosis
is_a: DOID:3138 ! acanthosis nigricans
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:0050661
name: vitelliform macular dystrophy
def: "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. (DO)" [http://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy "DO", http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy "DO"]
synonym: "vitelliform dystrophy" EXACT []
synonym: "vitelliform macular dystrophies" EXACT []
xref: GARD:10120
xref: MESH:D057826
xref: MIM:PS153840
xref: NCI:C118788
xref: ORDO:1243
xref: ORDO:99000
is_a: DOID:4448 ! macular degeneration
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0050662
name: bestrophinopathy
def: "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24859690 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25545482 "DO", https://www.omim.org/entry/611809 "DO"]
synonym: "ARB" EXACT []
synonym: "autosomal recessive bestrophinopathy" EXACT []
synonym: "Multifocal retinopathy 1" NARROW []
synonym: "Multifocal retinopathy 2" NARROW []
synonym: "Multifocal retinopathy 3" NARROW []
xref: GARD:10301
xref: MESH:C567518
xref: MIM:611809
xref: MONDO:0012733
xref: OMIA:001444
xref: OMIA:001553
xref: OMIA:001554
xref: ORDO:139455
is_a: DOID:4448 ! macular degeneration
is_a: DOID:5679 ! retinal disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0050663
name: Bethlem myopathy
def: "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy "DO"]
synonym: "Benign Congenital Muscular Dystrophy" EXACT []
synonym: "Benign Congenital Myopathy with Contractures" EXACT []
synonym: "BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE" NARROW []
xref: GARD:873
xref: MESH:C535436
xref: MIM:PS158810
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007913 ! Collagen VI-related Myopathy

[Term]
id: DOID:0050664
name: Bietti crystalline corneoretinal dystrophy
alt_id: MIM:210370
def: "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35. (DO)" [https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy "DO"]
synonym: "BCD" EXACT []
synonym: "Bietti's crystalline corneoretinal dystrophy" EXACT []
synonym: "Bietti's crystalline dystrophy" EXACT []
synonym: "Bietti Crystalline Dystrophy" EXACT []
synonym: "Bietti Crystalline Retinopathy" EXACT []
synonym: "Bietti tapetoretinal degeneration with marginal corneal dystrophy" EXACT []
synonym: "CYP4V2-related disorder" EXACT []
xref: GARD:10050
xref: MESH:C535440
xref: NCI:C179299
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:5679 ! retinal disease
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:0050665
name: fetal alcohol syndrome
def: "A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. (DO)" [http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome "DO", http://www.cdc.gov/ncbddd/fasd/facts.html "DO"]
xref: ICD10CM:Q86.0
xref: MONDO:0016011
xref: NCI:C84713
xref: ORDO:1915
is_a: DOID:0050696 ! fetal alcohol spectrum disorder
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050666
name: partial fetal alcohol syndrome
def: "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. (DO)" [http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm "DO", http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder "DO"]
is_a: DOID:0050696 ! fetal alcohol spectrum disorder
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050667
name: alcohol-related neurodevelopmental disorder
def: "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. (DO)" [http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder "DO"]
synonym: "ARND" EXACT []
synonym: "static encephalopathy" EXACT []
is_a: DOID:0050696 ! fetal alcohol spectrum disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050668
name: alcohol-related birth defects
def: "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. (DO)" [http://www.cdc.gov/ncbddd/fasd/facts.html "DO"]
synonym: "alcohol fetopathy" EXACT []
synonym: "alcohol-related birth defect" EXACT []
synonym: "ARBD" EXACT []
xref: MESH:C576203
is_a: DOID:0050696 ! fetal alcohol spectrum disorder

[Term]
id: DOID:0050669
name: spastic cerebral palsy
def: "A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. (DO)" [http://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html "DO"]
synonym: "spastic cerebral palsies" EXACT []
is_a: DOID:1969 ! cerebral palsy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050670
name: ataxic cerebral palsy
def: "A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. (DO)" [http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic "DO", http://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html "DO"]
synonym: "ACP" EXACT []
synonym: "ataxic cerebral palsy, autosomal recessive" EXACT []
synonym: "hypotonic cerebral palsy" EXACT []
xref: GARD:10451
xref: MESH:C562856
xref: MIM:605388
xref: MONDO:0000397
is_a: DOID:1969 ! cerebral palsy
is_a: DOID:630 ! genetic disease
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:0050671
name: female breast cancer
def: "A breast cancer that develops from breast tissue in females. (DO)" [https://en.wikipedia.org/wiki/Breast_cancer "DO", https://www.ncbi.nlm.nih.gov/pubmed/24703317 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25002350 "DO"]
is_a: DOID:1612 ! breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:0050672
name: dyskinetic cerebral palsy
def: "A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. (DO)" [http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic "DO"]
synonym: "athetoid dyskinetic cerebral palsy" EXACT []
synonym: "dyskinetic cerebral palsies" EXACT []
xref: RDO:9003331
is_a: DOID:1969 ! cerebral palsy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050673
name: mixed cerebral palsy
def: "A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing. (DO)" [http://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy "DO", http://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html "DO"]
synonym: "mixed cerebral palsies" EXACT []
is_a: DOID:1969 ! cerebral palsy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050674
name: congenital bile acid synthesis defect
def: "A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. (DO)" [https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/12543708 "DO"]
synonym: "CBA" EXACT []
synonym: "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency" EXACT []
xref: EFO:0009039
xref: ICD10CM:K76.8
xref: MIM:PS607765
xref: ORDO:485631
is_a: DOID:0080015 ! physical disorder
is_a: DOID:13580 ! cholestasis
is_a: DOID:1701 ! steroid inherited metabolic disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050675
name: Birk-Barel syndrome
alt_id: MIM:612292
def: "A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24. (DO)" [https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy "DO"]
synonym: "BIBARS" EXACT []
synonym: "Birk-Barel intellectual disability dysmorphism syndrome" EXACT []
synonym: "Birk-Barel mental retardation dysmorphism syndrome" EXACT []
synonym: "mental retardation with hypotonia and facial dysmorphism" EXACT []
xref: GARD:10358
xref: MESH:C567357
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0050676
name: Birt-Hogg-Dube syndrome
def: "A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. (DO)" [https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/ "DO"]
synonym: "BHD" EXACT []
synonym: "BHD1" NARROW []
synonym: "BHD2" NARROW []
synonym: "Birt-Hogg-Dube syndrome 1" NARROW []
synonym: "Birt-Hogg-Dube syndrome 2" NARROW []
synonym: "Birt-Hogg-Dubé syndrome" EXACT []
synonym: "fibrofolliculomas with trichodiscomas and acrochordons" EXACT []
synonym: "Hornstein-Birt-Hogg-Dubé syndrome" EXACT []
synonym: "Hornstein-Knickenberg syndrome" EXACT []
synonym: "renal cystadenocarcinoma and nodular dermatofibrosis" EXACT []
xref: EFO:0700020
xref: EFO:1001273
xref: GARD:2322
xref: MESH:D058249
xref: MIM:135150
xref: MIM:620459
xref: MONDO:0007607
xref: MONDO:0800444
xref: NCI:C28244
xref: OMIA:001335
xref: ORDO:122
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:37 ! skin disease
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:0050677
name: Bjornstad syndrome
alt_id: MIM:262000
def: "A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (DO)" [https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/ "DO"]
synonym: "BCS1L-related disorder" BROAD []
synonym: "BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY" NARROW []
synonym: "BJS" EXACT []
synonym: "deafness and pili torti, Bjornstad type" EXACT []
synonym: "deafness-pili torti-hypogonadism syndrome" EXACT []
synonym: "pili torti and nerve deafness" EXACT []
synonym: "pili torti-deafness syndrome" EXACT []
synonym: "pili torti-sensorineural hearing loss" EXACT []
synonym: "PTD" EXACT []
xref: GARD:22
xref: MESH:C537633
xref: ORDO:123
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:421 ! hair disease
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:0050678
name: Blau syndrome
alt_id: MIM:186580
def: "A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. (DO)" [http://en.wikipedia.org/wiki/Blau_syndrome "DO", http://www.omim.org/entry/186580?search=186580&highlight=186580 "DO"]
synonym: "ACUG" EXACT []
synonym: "arthrocutaneouveal granulomatosis" EXACT []
synonym: "BLAUS" EXACT []
synonym: "familial granulomatosis, Blau type" EXACT []
synonym: "Familial Juvenile Systemic Granulomatosis" EXACT []
synonym: "Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial" EXACT []
synonym: "Jabs syndrome" EXACT []
synonym: "pediatric granulomatous arthritis" EXACT []
synonym: "synovitis granulomatous with uveitis and cranial neuropathies" EXACT []
xref: GARD:304
xref: MESH:C538157
xref: NCI:C116794
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13141 ! uveitis
is_a: DOID:2703 ! synovitis
is_a: DOID:848 ! arthritis
is_a: DOID:9002517 ! Early-Onset Sarcoidosis

[Term]
id: DOID:0050679
name: blue cone monochromacy
def: "An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster. (DO)" [http://omim.org/entry/303700 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16 "DO"]
synonym: "BCM" EXACT []
synonym: "blue cone monochromatism" EXACT []
synonym: "CBBM CONE DYSTROPHY 5, X-LINKED" NARROW []
synonym: "COD5" NARROW []
synonym: "color blindness blue mono cone monochromatic type" EXACT []
synonym: "cone dystrophy 5, X-linked" RELATED []
xref: GARD:917
xref: MESH:C536238
xref: MIM:303700
xref: MONDO:0010563
xref: ORDO:15
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:13911 ! achromatopsia

[Term]
id: DOID:0050680
name: Boomerang dysplasia
alt_id: MIM:112310
def: "An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14. (DO)" [https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia "DO"]
synonym: "Boomerang-like skeletal dysplasia" EXACT []
synonym: "Dwarfism with short, bowed, rigid limbs and characteristic facies" EXACT []
synonym: "FLNB-related spectrum disorder" BROAD []
synonym: "Piepkorn dysplasia" EXACT []
xref: GARD:933
xref: MESH:C536573
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9001487 ! Facies
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0050681
name: Borjeson-Forssman-Lehmann syndrome
alt_id: MIM:301900
def: "An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. (DO)" [http://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1 "DO", http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html "DO"]
synonym: "BFLS" EXACT []
synonym: "BORJ" EXACT []
synonym: "Borjeson syndrome" EXACT []
synonym: "intellectual deficiency-epilepsy-endocrine disorders syndrome" EXACT []
synonym: "mental deficiency, epilepsy and endocrine disorders" EXACT []
synonym: "mental retardation, epilepsy, and endocrine disorder" EXACT []
synonym: "mental retardation, epilepsy, and endocrine disorders" EXACT []
synonym: "MRXSBFL" EXACT []
synonym: "syndromic X-linked mental retardation, Borjeson-Forssman-Lehmann type" EXACT []
xref: GARD:936
xref: MESH:C536575
xref: NCI:C157122
xref: ORDO:127
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1826 ! epilepsy
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9970 ! obesity

[Term]
id: DOID:0050682
name: Athabaskan brainstem dysgenesis syndrome
alt_id: MIM:601536
def: "A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18412118 "DO", https://www.omim.org/entry/601536 "DO"]
synonym: "ABDS" EXACT []
synonym: "Athabaskan brainstem dysgenesis" EXACT []
synonym: "Bosley-Salih-Alorainy syndrome" RELATED []
synonym: "BSAS" RELATED []
synonym: "HOXA1-RELATED CONDITION" EXACT []
synonym: "Navajo brainstem syndrome" EXACT []
xref: MESH:C535397
xref: ORDO:69739
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:9006534 ! Nervous System Malformations
is_a: DOID:936 ! brain disease

[Term]
id: DOID:0050683
name: Bothnia retinal dystrophy
def: "A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11176989 "DO", https://www.omim.org/entry/607475 "DO"]
synonym: "Vasterbotten dystrophy" EXACT []
xref: MESH:C564392
xref: MIM:607475
xref: MONDO:0011838
is_a: DOID:8501 ! fundus dystrophy
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0050684
name: Bowen-Conradi syndrome
alt_id: MIM:211180
def: "A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19463982 "DO", https://www.omim.org/entry/211180 "DO"]
synonym: "Bowen-Conradi Hutterite syndrome" EXACT []
synonym: "Bowen Hutterite syndrome" EXACT []
synonym: "BWCNS" EXACT []
xref: GARD:5950
xref: MESH:C537081
xref: ORDO:1270
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9002231 ! Fetal Growth Retardation
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:0050685
name: small cell carcinoma
alt_id: MIM:182280
def: "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. (DO)" [http://en.wikipedia.org/wiki/Small_cell_carcinoma "DO"]
synonym: "oat cell carcinoma" EXACT []
synonym: "oat cell carcinomas" EXACT []
synonym: "Salivary Gland Small Cell Carcinoma" NARROW []
synonym: "SCCL" EXACT []
synonym: "SCLC" EXACT []
synonym: "SCLC1" EXACT []
synonym: "small cell carcinoma, intermediate cell" EXACT []
synonym: "small cell carcinomas" EXACT []
xref: EFO:0008524
xref: EFO:1000519
xref: ICDO:8041/3
xref: MESH:D018288
xref: NCI:C4099
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:0050686
name: organ system cancer
def: "A cancer that is classified based on the organ it starts in. (DO)" [https://www.cancer.gov/types/by-body-location "DO"]
is_a: DOID:162 ! cancer
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:0050687
name: cell type cancer
def: "A cancer that is classified by the type of cell from which it is derived. (DO)" [http://en.wikipedia.org/wiki/Cancer "DO"]
synonym: "cancer by histologic type" EXACT []
is_a: DOID:162 ! cancer
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:0050688
name: anal canal cancer
def: "A large intestine cancer that is located_in the terminal part of the large intestine. (DO)" [http://en.wikipedia.org/wiki/Anal_canal "DO"]
is_a: DOID:14110 ! anus cancer
is_a: DOID:5672 ! large intestine cancer
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:0050689
name: brachydactyly-syndactyly syndrome
alt_id: MIM:610713
def: "A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17236141 "DO", https://www.omim.org/entry/610713 "DO"]
synonym: "BDSD" EXACT []
synonym: "BDSDO" NARROW []
synonym: "brachydactyly-syndactyly-oligodactyly syndrome" NARROW []
xref: MESH:C565193
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0050690
name: brachyolmia
alt_id: DOID:9008880
def: "An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10968486 "DO"]
synonym: "brachyrachia" EXACT []
xref: GARD:10903
xref: MESH:C537098
xref: ORDO:1293
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0050691
name: branchiooculofacial syndrome
def: "A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts. (DO)" [http://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome "DO", http://www.ncbi.nlm.nih.gov/books/NBK55063/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract "DO"]
synonym: "BOFS" EXACT []
synonym: "BOF syndrome" EXACT []
synonym: "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging" EXACT []
synonym: "branchio oculo facial syndrome" EXACT []
synonym: "hemangiomatous branchial clefts lip pseudocleft syndrome" EXACT []
synonym: "lip pseudocleft hemangiomatous branchial cyst syndrome" EXACT []
synonym: "TFAP2A-RELATED CONDITION" EXACT []
xref: GARD:3212
xref: MIM:113620
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0050692
name: Brody myopathy
alt_id: MIM:601003
def: "A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles. (DO)" [https://ghr.nlm.nih.gov/condition/brody-myopathy "DO", https://rarediseases.info.nih.gov/gard/9158/brody-myopathy/case/23360/case-questions "DO"]
synonym: "autosomal recessive Brody myopathy" EXACT []
synonym: "Brody disease" EXACT []
xref: GARD:9158
xref: MESH:C536607
is_a: DOID:913 ! atrophic muscular disease

[Term]
id: DOID:0050693
name: Brooke-Spiegler syndrome
def: "A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. (DO)" [https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome "DO"]
synonym: "Ancell-Spiegler cylindromas" EXACT []
synonym: "Brooke-Fordyce trichoepitheliomas" EXACT []
synonym: "BRSS" EXACT []
synonym: "BSS" EXACT []
synonym: "CYLD cutaneous syndrome" EXACT []
synonym: "dermal eccrine cylindroma" EXACT []
synonym: "dermal eccrine cylindromas" EXACT []
synonym: "EAC" EXACT []
synonym: "epithelioma adenoides cysticum of Brooke" EXACT []
synonym: "familial cylindromatosis" EXACT []
synonym: "FAMILIAL MULTIPLE TRICHOEPITHELIOMATA" EXACT []
synonym: "familial trichoepithelioma" EXACT []
synonym: "hereditary multiple benign cystic epithelioma" EXACT []
synonym: "MFT1" EXACT []
synonym: "multiple familial trichoepithelioma" EXACT []
synonym: "multiple familial trichoepithelioma 1" EXACT []
synonym: "SBS" EXACT []
synonym: "Turban tumors" EXACT []
synonym: "Turban tumor syndrome" EXACT []
xref: GARD:10179
xref: MESH:C536611
xref: MIM:132700
xref: MIM:601606
xref: MIM:605041
xref: MONDO:0007565
xref: ORDO:79493
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:0050694
name: Brown-Vialetto-Van Laere syndrome
def: "A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21110228 "DO"]
synonym: "pontobulbar palsy and neurosensory deafness" EXACT []
synonym: "pontobulbar palsy with deafness" EXACT []
synonym: "progressive bulbar palsy with sensorineural deafness" EXACT []
xref: MESH:C537111
xref: MIM:PS211530
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:681 ! progressive bulbar palsy

[Term]
id: DOID:0050695
name: malignant pleural solitary fibrous tumor
def: "A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17075563 "DO"]
is_a: DOID:5158 ! pleural cancer

[Term]
id: DOID:0050696
name: fetal alcohol spectrum disorder
def: "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. (DO)" [http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder "DO", http://www.cdc.gov/ncbddd/fasd/facts.html "DO"]
synonym: "alcohol related birth defects" EXACT []
synonym: "FAE (Fetal Alcohol Effects)" EXACT []
synonym: "FASD" EXACT []
synonym: "fetal alcohol syndrome" EXACT []
synonym: "Growth Retardation, Facial Abnormalities, and Central Nervous System Dysfunction" EXACT []
xref: MESH:D063647
xref: MONDO:0000408
is_a: DOID:0060038 ! specific developmental disorder
is_a: DOID:251 ! alcohol-induced mental disorder
is_a: DOID:9001984 ! Fetal Diseases

[Term]
id: DOID:0050697
name: chorioamnionitis
def: "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. (DO)" [http://en.wikipedia.org/wiki/Chorioamnionitis "DO", http://www.merriam-webster.com/medlineplus/Chorioamnionitis "DO"]
synonym: "amnionitides" EXACT []
synonym: "amnionitis" EXACT []
synonym: "chorioamnionitides" EXACT []
xref: EFO:0009948
xref: MESH:D002821
is_a: DOID:780 ! placenta disease
is_a: DOID:9001984 ! Fetal Diseases
is_a: DOID:9005304 ! Fetal Membranes, Premature Rupture

[Term]
id: DOID:0050698
name: funisitis
def: "A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. (DO)" [http://en.wikipedia.org/wiki/Funisitis "DO"]
synonym: "funisitides" EXACT []
is_a: DOID:0050697 ! chorioamnionitis
is_a: DOID:65 ! connective tissue disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050699
name: Dent disease
def: "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure. (DO)" [http://en.wikipedia.org/wiki/Dent%27s_disease "DO", http://ghr.nlm.nih.gov/condition/dent-disease "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652 "DO", https://www.dentdisease.org/ "DO"]
synonym: "Dent's disease" EXACT []
synonym: "Dents disease" EXACT []
synonym: "X-linked hypercalciuric nephrocalcinosis" EXACT []
xref: GARD:13105
xref: MESH:D057973
xref: MIM:PS300009
xref: NCI:C123260
xref: ORDO:1652
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:447 ! renal tubular transport disease
is_a: DOID:585 ! nephrolithiasis

[Term]
id: DOID:0050700
name: cardiomyopathy
def: "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (DO)" [http://en.wikipedia.org/wiki/Cardiomyopathy "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ "DO"]
synonym: "cardiomyopathies" EXACT []
synonym: "cardiomyopathy with or without skeletal myopathy" EXACT []
synonym: "Familial Cardiomyopathy" NARROW []
synonym: "HYPOKINETIC NON-DILATED CARDIOMYOPATHY" NARROW []
synonym: "idiopathic cardiomyopathy" NARROW []
synonym: "Myocardial Disease" EXACT []
synonym: "Myocardial Diseases" EXACT []
synonym: "Myocardiopathies" EXACT []
synonym: "Myocardiopathy" EXACT []
synonym: "PERSONAL AND/OR FAMILY HISTORY OF CARDIOMYOPATHY" RELATED []
synonym: "Primary Cardiomyopathies" EXACT []
synonym: "Primary Cardiomyopathy" EXACT []
synonym: "Primary Myocardial Disease" EXACT []
synonym: "Primary Myocardial Diseases" EXACT []
synonym: "PRKAG2 Cardiac Syndrome" NARROW []
synonym: "Secondary Cardiomyopathies" EXACT []
synonym: "Secondary Cardiomyopathy" EXACT []
synonym: "secondary myocardial disease" EXACT []
synonym: "secondary myocardial diseases" EXACT []
synonym: "TXNRD2-ASSOCIATED CARDIOMYOPATHY" NARROW []
synonym: "viral cardiomyopathy" NARROW []
xref: EFO:0000318
xref: EFO:0000767
xref: EFO:0002629
xref: EFO:0002945
xref: ICD10CM:I42
xref: ICD9CM:425
xref: ICD9CM:425.9
xref: MESH:D009202
xref: NCI:C34830
xref: NCI:C53654
is_a: DOID:114 ! heart disease

[Term]
id: DOID:0050701
name: electroclinical syndrome
def: "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. (DO)" [http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO"]
synonym: "electro-clinical syndrome" EXACT []
synonym: "TRIM8-RELATED EPILEPTIC ENCEPHALOPATHY" NARROW []
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050702
name: neonatal period electroclinical syndrome
def: "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22182677 "DO"]
is_a: DOID:0050701 ! electroclinical syndrome
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050703
name: infancy electroclinical syndrome
def: "An electroclinical syndrome with onset in infancy occurring between birth and one year of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO"]
is_a: DOID:0050701 ! electroclinical syndrome
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050704
name: childhood electroclinical syndrome
alt_id: RDO:9002706
def: "An electroclinical syndrome with onset in childhood between one and 12 years of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO"]
xref: RDO:9002463
is_a: DOID:0070309 ! absence epilepsy
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050705
name: adolescence-adult electroclinical syndrome
def: "An electroclinical syndrome with onset in adolescence and adulthood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO"]
xref: RDO:9002464
is_a: DOID:0070309 ! absence epilepsy
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050706
name: variable age at onset electroclinical syndrome
alt_id: RDO:9002465
def: "An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/ "DO"]
xref: RDO:9002709
is_a: DOID:0050701 ! electroclinical syndrome
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050708
name: early onset absence epilepsy
def: "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24099057 "DO"]
is_a: DOID:0050704 ! childhood electroclinical syndrome
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0050709
name: early infantile epileptic encephalopathy
alt_id: DOID:2481
def: "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO)" [http://en.wikipedia.org/wiki/Ohtahara_syndrome "DO", http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm "DO"]
synonym: "DEVELOPMENTAL ENCEPHALOPATHY WITH EPILEPSY" EXACT []
synonym: "early infantile epileptic encephalopathy with burst-suppression" EXACT []
xref: EFO:1000643
xref: GARD:9255
xref: NCI:C122814
xref: ORDO:1934
is_a: DOID:0050702 ! neonatal period electroclinical syndrome
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0050710
name: 3-methylcrotonyl-CoA carboxylase deficiency
def: "An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. (DO)" [http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency "DO", http://omim.org/entry/210200 "DO"]
synonym: "3-MCC deficiency" EXACT []
synonym: "3MCC deficiency" EXACT []
synonym: "3-methylcrotonyl-Coenzyme A carboxylase deficiency" EXACT []
synonym: "3-Methylcrotonylglycinuria" EXACT []
synonym: "BMCC deficiency" EXACT []
synonym: "Deficiency of Methylcrotonoyl-Coa Carboxylase" EXACT []
synonym: "MCC deficiency" EXACT []
synonym: "methylcrotonyl-Coa carboxylase deficiency" EXACT []
xref: GARD:10954
xref: MIM:PS210200
xref: NCI:C98674
xref: ORDO:6
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:66 ! muscle tissue disease
is_a: DOID:9267 ! urea cycle disorder
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050711
name: aceruloplasminemia
def: "An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. (DO)" [http://en.wikipedia.org/wiki/Aceruloplasminemia "DO", http://omim.org/entry/604290?search=604290&highlight=604290 "DO"]
synonym: "CERULOPLASMIN DEFICIENCY" NARROW []
synonym: "DEFICIENCY OF FERROXIDASE" EXACT []
synonym: "familial apoceruloplasmin deficiency" EXACT []
synonym: "hereditary hypoceruloplasminemia" EXACT []
synonym: "hypoceruloplasminemia" NARROW []
synonym: "NBIA10" EXACT []
synonym: "neurodegeneration with brain iron accumulation-10" EXACT []
synonym: "systemic hemosiderosis due to aceruloplasminemia" NARROW []
xref: GARD:9499
xref: MESH:C536004
xref: MIM:604290
xref: NCI:C189281
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:2351 ! iron metabolism disease
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0050712
name: AGAT deficiency
alt_id: MIM:612718
def: "An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. (DO)" [http://en.wikipedia.org/wiki/Arginine\:glycine_amidinotransferase#Deficiency "DO"]
synonym: "arginine:glycine amidinotransferase deficiency" EXACT []
synonym: "CCDS3" EXACT []
synonym: "cerebral creatine deficiency syndrome 3" EXACT []
synonym: "creatine deficiency syndrome due to AGAT deficiency" EXACT []
synonym: "GATM deficiency" EXACT []
synonym: "GATM-RELATED CONDITION" BROAD []
synonym: "L-Arginine:Glycine Aminidotransferase Deficiency" EXACT []
xref: MESH:C567192
xref: NCI:C198575
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050798 ! cerebral creatine deficiency syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:0050713
name: COX deficiency, infantile mitochondrial myopathy
def: "A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. (DO)" [https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ "DO"]
synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency" EXACT []
synonym: "fatal infantile COX deficiency" EXACT []
synonym: "fatal infantile cytochrome C oxidase deficiency" EXACT []
synonym: "fatal infantile encephalocardiomyopathy" EXACT []
xref: ORDO:1561
is_a: DOID:11984 ! hypertrophic cardiomyopathy
is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease
is_a: DOID:890 ! mitochondrial encephalomyopathy
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050715
name: methylmalonic aciduria and homocystinuria type cblC
alt_id: MIM:277400
def: "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. (DO)" [http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 "DO"]
synonym: "Cobalamin C deficiency" EXACT []
synonym: "cobalamin-C methylmalonic acidemia and homocystinuria" EXACT []
synonym: "MAHCC" EXACT []
synonym: "methylmalonic acidemia and homocystinemia" NARROW []
synonym: "methylmalonic acidemia and homocystinuria, cblC type" EXACT []
synonym: "methylmalonic Acidemia with Homocystinuria" NARROW []
synonym: "methylmalonic aciduria and homocystinuria, vitamin B12-responsive" EXACT []
synonym: "methylmalonic aciduria with homocystinuria, cblC type" EXACT []
synonym: "methylmalonic aciduria with homocystinuria, cblC type, digenic" NARROW []
synonym: "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase" EXACT []
xref: MESH:C537359
xref: NCI:C142174
is_a: DOID:0050731 ! vitamin B12 deficiency
is_a: DOID:0080578 ! digenic disease
is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria

[Term]
id: DOID:0050716
name: methylmalonic aciduria and homocystinuria type cblD
alt_id: MIM:277410
def: "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. (DO)" [http://omim.org/entry/277410?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18385497 "DO"]
synonym: "Cobalamin D deficiency" EXACT []
synonym: "HOMOCYSTINURIA, cblD TYPE, VARIANT 1" NARROW []
synonym: "MAHCD" EXACT []
synonym: "Methylmalonic Acidemia and Homocystinuria, CblD Type" EXACT []
synonym: "METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE METHYLMALONIC ACIDURIA, cblH TYPE" EXACT []
synonym: "METHYLMALONIC ACIDEMIA, cblH TYPE" NARROW []
synonym: "METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA CBLD" EXACT []
synonym: "METHYLMALONIC ACIDURIA, cblD TYPE, VARIANT 2" NARROW []
synonym: "methylmalonic aciduria with homocystinuria, cblD type" EXACT []
xref: MESH:C564743
xref: NCI:C183524
is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria

[Term]
id: DOID:0050717
name: methylmalonic aciduria and homocystinuria type cblF
alt_id: MIM:277380
def: "A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21910240 "DO"]
synonym: "cblF" EXACT []
synonym: "Cobalamin F deficiency" EXACT []
synonym: "cobalamin F disease" EXACT []
synonym: "defect in lysosomal release of cobalamin" EXACT []
synonym: "MAHCF" EXACT []
synonym: "Methylmalonic Acidemia and Homocystinuria, CblF Type" EXACT []
synonym: "Methylmalonic Aciduria due to Vitamin B12-Release Defect" EXACT []
synonym: "Vitamin B12 Lysosomal Release Defect" EXACT []
synonym: "vitamin B12 storage disease" EXACT []
xref: MESH:C564747
xref: NCI:C183525
is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria

[Term]
id: DOID:0050718
name: vitamin metabolic disorder
def: "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. (DO)" [http://en.wikipedia.org/wiki/Inborn_error_of_metabolism "DO"]
xref: EFO:0005596
xref: RDO:9003867
is_a: DOID:655 ! inherited metabolic disorder
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0050719
name: cerebral folate receptor alpha deficiency
alt_id: MIM:613068
def: "A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. (DO)" [http://en.wikipedia.org/wiki/B_vitamins "DO", https://www.ncbi.nlm.nih.gov/pubmed/19732866 "DO"]
synonym: "cerebral folate deficiency" EXACT []
synonym: "NCFTD" EXACT []
synonym: "neurodegeneration due to cerebral folate transport deficiency" EXACT []
xref: MESH:C567791
is_a: DOID:0050718 ! vitamin metabolic disorder
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2367 ! neuroaxonal dystrophy

[Term]
id: DOID:0050720
name: ornithine translocase deficiency
alt_id: MIM:238970
def: "An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. (DO)" [http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency "DO", http://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx "DO"]
synonym: "HHH" EXACT []
synonym: "HHHS" EXACT []
synonym: "HHH syndrome" EXACT []
synonym: "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome" EXACT []
synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria" EXACT []
synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome" EXACT []
synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" EXACT []
synonym: "triple H syndrome" EXACT []
xref: MESH:C538380
xref: MONDO:0009393
xref: NCI:C129029
is_a: DOID:225 ! syndrome
is_a: DOID:9008972 ! Hyperammonemia
is_a: DOID:9267 ! urea cycle disorder

[Term]
id: DOID:0050721
name: serine deficiency
def: "An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15021249 "DO"]
xref: MIM:PS256520
xref: RDO:9004040
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0050722
name: PHGDH deficiency
alt_id: MIM:601815
alt_id: RDO:0014928
def: "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. (DO)" [http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase "DO", http://www.ncbi.nlm.nih.gov/pubmed?term=18296366 "DO", http://www.omim.org/entry/601815 "DO"]
synonym: "PHGDHD" EXACT []
synonym: "phosphoglycerate dehydrogenase deficiency" EXACT []
xref: MESH:C566618
is_a: DOID:0050721 ! serine deficiency
is_a: DOID:10907 ! microcephaly
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:0050723
name: PSAT deficiency
alt_id: MIM:610992
def: "A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/ "DO", http://www.omim.org/entry/610992?search=610992&highlight=610992 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 "DO"]
synonym: "Phosphoserine Aminotransferase Deficiency" EXACT []
synonym: "PSAT1-RELATED DISORDER" BROAD []
synonym: "PSATD" EXACT []
xref: MESH:C567032
is_a: DOID:0050721 ! serine deficiency
is_a: DOID:10907 ! microcephaly
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:0050724
name: PSPH deficiency
def: "A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. (DO)" [http://en.wikipedia.org/wiki/PSPH "DO", http://www.omim.org/entry/614023 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350 "DO"]
synonym: "phosphoserine phosphatase deficiency" EXACT []
synonym: "PSPHD" EXACT []
xref: MIM:614023
is_a: DOID:0050721 ! serine deficiency
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:0050725
name: tyrosinemia type II
def: "A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. (DO)" [http://en.wikipedia.org/wiki/Tyrosinemia_type_II "DO", http://www.omim.org/entry/276600?search=276600&highlight=276600 "DO"]
synonym: "hereditary tyrosinemia type II" EXACT []
synonym: "oculocutaneous tyrosinemia" EXACT []
synonym: "Richner-Hanhart syndrome" EXACT []
synonym: "Richner-Hanhart syndromes" EXACT []
synonym: "Richner-Hanhart syndrome, tyrosinosis, oculocutaneous type" EXACT []
synonym: "type 2 tyrosinemia" EXACT []
synonym: "type 2 tyrosinemias" EXACT []
synonym: "type II tyrosinemias" EXACT []
synonym: "TYRSN2" EXACT []
xref: MIM:276600
xref: NCI:C129032
xref: ORDO:28378
is_a: DOID:37 ! skin disease
is_a: DOID:409 ! liver disease
is_a: DOID:9275 ! tyrosinemia
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0050726
name: tyrosinemia type I
def: "A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. (DO)" [http://en.wikipedia.org/wiki/Type_I_tyrosinemia "DO"]
synonym: "hepatorenal tyrosinemia" EXACT []
synonym: "hepatorenal tyrosinemias" EXACT []
synonym: "hereditary tyrosinemia, type I" EXACT []
synonym: "type I hypertyrosinemia" EXACT []
synonym: "tyrosinemia type 1" EXACT []
synonym: "TYRSN1" EXACT []
xref: MIM:276700
xref: NCI:C98641
is_a: DOID:9275 ! tyrosinemia
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0050727
name: tyrosinemia type III
def: "A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. (DO)" [http://en.wikipedia.org/wiki/Type_III_tyrosinemia "DO", http://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia "DO"]
synonym: "4 hydroxyphenol pyruvic acid oxidase deficiency disease" EXACT []
synonym: "4-hydroxyphenylpyruvate dioxygenase deficiencies" EXACT []
synonym: "4-hydroxyphenylpyruvate dioxygenase deficiency" EXACT []
synonym: "4 hydroxyphenylpyruvate dioxygenase deficiency disease" EXACT []
synonym: "4-hydroxyphenylpyruvic acid oxidase deficiency" EXACT []
synonym: "hereditary tyrosinemia, type III" EXACT []
synonym: "TYRSN3" EXACT []
xref: MIM:276710
is_a: DOID:9275 ! tyrosinemia
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0050728
name: glycogen metabolism disorder
def: "A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. (DO)" [http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism "DO"]
is_a: DOID:2978 ! carbohydrate metabolic disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050729
name: Chanarin-Dorfman syndrome
alt_id: MIM:275630
def: "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. (DO)" [http://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome "DO"]
synonym: "CDS" EXACT []
synonym: "Chanarin-Dorfman disease" EXACT []
synonym: "DCS" EXACT []
synonym: "ichthyosiform erythroderma with leukocyte vacuolation" EXACT []
synonym: "ichthyotic neutral lipid storage disease" EXACT []
synonym: "neutral lipid storage disease" EXACT []
synonym: "neutral lipid storage disease with ichthyosis" EXACT []
synonym: "neutral lipid storage myopathy" EXACT []
synonym: "NLSDI" EXACT []
synonym: "triglyceride storage disease with ichthyosis" EXACT []
synonym: "triglyceride storage disease with impaired long-chain fatty acid oxidation" EXACT []
xref: GARD:3979
xref: MESH:C536560
xref: ORDO:98907
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:0050730
name: coenzyme Q10 deficiency disease
def: "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. (DO)" [http://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity "DO"]
synonym: "COENZYME Q10 DEFICIENCY, OCULOMOTOR APRAXIA TYPE" NARROW []
synonym: "COENZYME Q10 DEFICIENCY, SPINOCEREBELLAR ATAXIA TYPE" NARROW []
synonym: "coenzyme Q deficiency" EXACT []
synonym: "CoQ Deficiency" EXACT []
synonym: "primary coenzyme Q10 deficiency" EXACT []
synonym: "primary CoQ10 deficiency" EXACT []
synonym: "ubiquinone deficiency" EXACT []
xref: GARD:10423
xref: MESH:C564403
xref: MIM:PS607426
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9005532 ! Muscle Weakness

[Term]
id: DOID:0050731
name: vitamin B12 deficiency
alt_id: MIM:612542
def: "A vitamin metabolic disorder that results from low blood levels of vitamin B12. (DO)" [http://en.wikipedia.org/wiki/B12_deficiency "DO"]
synonym: "acquired cobalamin-deficient neuropathy" NARROW []
synonym: "cobalamin deficiency" EXACT []
synonym: "hypocobalaminemia" EXACT []
synonym: "vitamin B12 deficiencies" EXACT []
synonym: "vitamin B12 deficiency anemia" NARROW []
xref: EFO:0000734
xref: MESH:D014806
is_a: DOID:0050718 ! vitamin metabolic disorder
is_a: DOID:9002785 ! Vitamin B Deficiency

[Term]
id: DOID:0050732
name: methylmalonic aciduria and homocystinuria type cblE
def: "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism. (DO)" [https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cb "DO", https://www.omim.org/entry/236270 "DO"]
xref: EFO:0005568
is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0050733
name: methylmalonic aciduria and homocystinuria type cblG
alt_id: MIM:250940
def: "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism. (DO)" [https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf "DO", https://www.omim.org/entry/250940 "DO"]
synonym: "HMAG" EXACT []
synonym: "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE" EXACT []
synonym: "Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblG Complementation Type" EXACT []
synonym: "METHIONINE SYNTHASE DEFICIENCY" EXACT []
synonym: "methylcobalamin deficiency type CblG" EXACT []
xref: EFO:0005597
xref: MESH:C565394
xref: ORDO:2170
is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria

[Term]
id: DOID:0050734
name: congenital intrinsic factor deficiency
alt_id: MIM:261000
def: "A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. (DO)" [http://omim.org/entry/261000?search=261000&highlight=261000 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14695536 "DO"]
synonym: "congenital pernicious anemia, due to defect of intrinsic factor" EXACT []
synonym: "hereditary intrinsic factor deficiency" EXACT []
synonym: "IFD" EXACT []
synonym: "intrinsic factor deficiency" EXACT []
xref: MESH:C563242
is_a: DOID:0050731 ! vitamin B12 deficiency
is_a: DOID:0080015 ! physical disorder
is_a: DOID:13381 ! pernicious anemia

[Term]
id: DOID:0050735
name: X-linked monogenic disease
def: "A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. (DO)" [http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant "DO", http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns "DO"]
synonym: "Genetic Diseases, X Chromosome Linked" EXACT []
synonym: "X-linked disease" EXACT []
synonym: "X-linked genetic disease" EXACT []
synonym: "X-linked inheritance" EXACT []
xref: MESH:D040181
is_a: DOID:0050177 ! monogenic disease

[Term]
id: DOID:0050736
name: autosomal dominant disease
def: "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. (DO)" [http://ghr.nlm.nih.gov/glossary=autosomaldominant "DO", http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns "DO", http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm "DO"]
xref: RDO:9002039
is_a: DOID:0050739 ! autosomal genetic disease
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:0050737
name: autosomal recessive disease
def: "An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. (DO)" [http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns "DO", http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm "DO"]
xref: EFO:1000017
is_a: DOID:0050739 ! autosomal genetic disease
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:0050738
name: Y-linked monogenic disease
def: "A monogenic disease that has_material_basis_in mutations on the Y chromosome. (DO)" [http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked "DO"]
synonym: "Y chromosome linked genetic diseases" EXACT []
synonym: "Y-linked disease" EXACT []
synonym: "Y-linked genetic disease" EXACT []
xref: MESH:D050174
is_a: DOID:0050177 ! monogenic disease

[Term]
id: DOID:0050739
name: autosomal genetic disease
def: "A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. (DO)" [http://ghr.nlm.nih.gov/glossary=autosomaldominant "DO", http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns "DO"]
is_a: DOID:0050177 ! monogenic disease
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:0050740
name: Qazi Markouizos syndrome
alt_id: MIM:600096
def: "A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. (DO)" [http://omim.org/entry/600096 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010 "DO"]
synonym: "dysharmonic skeletal maturation muscular fibre disproportion" EXACT []
synonym: "Puerto Rican infant hypotonia syndrome" EXACT []
synonym: "Puertorican infant hypotonia syndrome" EXACT []
xref: GARD:371
xref: MESH:C536259
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0050741
name: alcohol dependence
def: "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. (DO)" [https://en.wikipedia.org/wiki/Alcohol_dependence "DO"]
synonym: "alcohol addiction" EXACT []
synonym: "alcoholism" EXACT []
synonym: "GABRA2-RELATED CONDITION" BROAD []
xref: EFO:0003829
xref: MIM:103780
xref: MONDO:0007079
is_a: DOID:9004354 ! Alcohol-Related Disorders
is_a: DOID:9973 ! substance dependence
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0050742
name: nicotine dependence
def: "A substance dependence that is characterized by a physical dependence on nicotine. (DO)" [https://en.wikipedia.org/wiki/Nicotine_dependence "DO"]
synonym: "CHRNA4-RELATED CONDITION" BROAD []
synonym: "CIGARETTE HABITUATION, SUSCEPTIBILITY TO" RELATED []
synonym: "NICOTINE ADDICTION, PROTECTION AGAINST" RELATED []
synonym: "NICOTINE ADDICTION, SUSCEPTIBILITY TO" RELATED []
synonym: "NICOTINE DEPENDENCE, SUSCEPTIBILITY TO" RELATED []
synonym: "SMOKING HABIT, SUSCEPTIBILITY TO" RELATED []
synonym: "tobacco addiction, susceptibility to" RELATED []
synonym: "tobacco use disorder" EXACT []
xref: EFO:0003768
xref: ICD10CM:F17
xref: MIM:188890
xref: NCI:C54203
is_a: DOID:9001310 ! Tobacco Use Disorder
is_a: DOID:9973 ! substance dependence
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050743
name: mature T-cell and NK-cell lymphoma
def: "A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. (DO)" [http://www.cancer.gov/dictionary?CdrID=393800 "DO", http://www.cancer.gov/dictionary?CdrID=44062 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21919697 "DO"]
synonym: "mature T-cell and natural killer cell lymphoma" EXACT []
synonym: "NK-T cell lymphoma" EXACT []
is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:0050744
name: anaplastic large cell lymphoma
def: "A non-Hodgkin lymphoma involving aberrant T-cells. (DO)" [http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology "DO"]
synonym: "anaplastic large-cell lymphomas" EXACT []
synonym: "CD30+ Anaplastic Large Cell Lymphoma" EXACT []
synonym: "CD30 Positive Anaplastic Large Cell Lymphoma" EXACT []
synonym: "Central Nervous System Anaplastic Large Cell Lymphoma" NARROW []
synonym: "Ki 1 Lymphoma" EXACT []
synonym: "Ki-1 Lymphomas" EXACT []
synonym: "Lymphoma, Large-Cell, Ki-1" EXACT []
synonym: "systemic anaplastic large cell lymphoma" EXACT []
xref: EFO:0003032
xref: EFO:1000156
xref: ICDO:9714/3
xref: MESH:D017728
xref: NCI:C3720
is_a: DOID:0060060 ! non-Hodgkin lymphoma
is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma

[Term]
id: DOID:0050745
name: diffuse large B-cell lymphoma
def: "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern. (DO)" [http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma "DO", https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28487884 "DO"]
synonym: "Breast Diffuse Large B-Cell Lymphoma" NARROW []
synonym: "Colorectal Diffuse Large B-Cell Lymphoma" NARROW []
synonym: "diffuse histiocytic lymphoma" EXACT []
synonym: "diffuse histiocytic lymphomas" EXACT []
synonym: "diffuse large cell lymphoma" EXACT []
synonym: "diffuse large-cell lymphomas" EXACT []
synonym: "diffuse large lymphoid lymphoma" EXACT []
synonym: "DLBCL" EXACT []
synonym: "histiocytic lymphoma" EXACT []
synonym: "histiocytic lymphomas" EXACT []
synonym: "PCLBCL" NARROW []
synonym: "primary cutaneous large B-cell lymphoma" NARROW []
synonym: "Primary Pulmonary Diffuse Large B-Cell Lymphoma" NARROW []
synonym: "Small Intestinal Diffuse Large B-Cell Lymphoma" NARROW []
synonym: "Thyroid Gland Diffuse Large B-Cell Lymphoma" NARROW []
xref: EFO:0000403
xref: EFO:1000144
xref: EFO:1000191
xref: EFO:1000495
xref: EFO:1000534
xref: EFO:1000547
xref: EFO:1000587
xref: GARD:3178
xref: ICD11:2A81.Z
xref: ICDO:9680/3
xref: MESH:D016403
xref: NCI:C45605
xref: NCI:C80280
xref: NCI:C8851
is_a: DOID:0081452 ! large B-cell lymphoma

[Term]
id: DOID:0050746
name: mantle cell lymphoma
def: "A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. (DO)" [http://en.wikipedia.org/wiki/Mantle_cell_lymphoma "DO"]
synonym: "Centrocytic Small-Cell Lymphoma" EXACT []
synonym: "centrocytic small-cell lymphomas" EXACT []
synonym: "Diffuse Lymphocytic Lymphoma, Poorly Differentiated" EXACT []
synonym: "Gastric Mantle Cell Lymphoma" NARROW []
synonym: "Lymphoma, Lymphocytic, Diffuse, Intermediate Differentiated" EXACT []
synonym: "Lymphoma, Lymphocytic, Intermediate" EXACT []
synonym: "Mantle-Cell Lymphomas" EXACT []
synonym: "Mantle Cell Lymphoma, Somatic" EXACT []
synonym: "Mantle Zone Lymphoma" EXACT []
synonym: "mantle-zone lymphomas" EXACT []
synonym: "Splenic Mantle Cell Lymphoma" NARROW []
xref: EFO:1000272
xref: EFO:1000549
xref: EFO:1001469
xref: GARD:6969
xref: ICDO:9673/3
xref: MESH:D020522
xref: NCI:C187985
xref: NCI:C4337
is_a: DOID:707 ! B-cell lymphoma

[Term]
id: DOID:0050748
name: marginal zone lymphoma
def: "A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes. (DO)" [http://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma "DO", http://www.cancer.gov/dictionary?CdrID=562554 "DO"]
synonym: "marginal zone B-cell lymphoma" EXACT []
xref: EFO:1000630
xref: MESH:D018442
is_a: DOID:707 ! B-cell lymphoma

[Term]
id: DOID:0050749
name: peripheral T-cell lymphoma
def: "A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. (DO)" [http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma "DO"]
synonym: "peripheral T-cell lymphomas" EXACT []
synonym: "unspecified peripheral T-cell lymphoma" NARROW []
xref: EFO:0000211
xref: GARD:7368
xref: MESH:D016411
is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma
is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma

[Term]
id: DOID:0050750
name: splenic marginal zone lymphoma
def: "A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. (DO)" [http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma "DO"]
synonym: "splenic lymphoma with villous lymphocytes" EXACT []
synonym: "splenic marginal zone B-cell lymphoma" EXACT []
xref: EFO:1000550
xref: NCI:C4663
is_a: DOID:0050748 ! marginal zone lymphoma
is_a: DOID:4960 ! bone marrow cancer
is_a: DOID:672 ! spleen cancer
created_by: rgd
creation_date: 2016-08-22T00:00:00Z

[Term]
id: DOID:0050751
name: T-cell large granular lymphocyte leukemia
def: "A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. (DO)" [http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia "DO"]
synonym: "Aggressive Natural Killer Cell Leukemia" EXACT []
synonym: "Aggressive NK Cell Leukemia" EXACT []
synonym: "Large Granular Lymphocyte Leukemia" EXACT []
synonym: "Large granular lymphocytic leukaemia" EXACT []
synonym: "large granular lymphocytoses" EXACT []
synonym: "Large Granular Lymphocytosis" EXACT []
synonym: "Leukemia, Large Granular Lymphocytic" EXACT []
synonym: "LGL Leukemia" EXACT []
synonym: "LGL leukemias" EXACT []
synonym: "lymphoproliferative disease of granular lymphocytes" EXACT []
synonym: "Lymphoproliferative Disease of Large Granular Lymphocytes" EXACT []
synonym: "Natural Killer Cell Large Granular Lymphocytic Leukemia" EXACT []
synonym: "NK Cell Large Granular Lymphocytic Leukemia" EXACT []
synonym: "NK LGL leukemia" EXACT []
synonym: "NK-LGL leukemias" EXACT []
synonym: "T-cell large granular lymphocyte leukaemia" EXACT []
synonym: "T-cell large granular lymphocytic leukemia" EXACT []
synonym: "T-LGL leukemia" EXACT []
synonym: "T-LGL leukemias" EXACT []
xref: ICDO:9831/3
xref: MESH:D054066
xref: NCI:C4664
xref: NCI:C64066
is_a: DOID:1040 ! chronic lymphocytic leukemia
is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia

[Term]
id: DOID:0050752
name: amyotrophic lateral sclerosis type 8
alt_id: MIM:608627
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/608627 "DO"]
synonym: "ALS8" EXACT []
synonym: "amyotrophic lateral sclerosis 8" EXACT []
xref: GARD:10499
xref: MESH:C563895
xref: NCI:C168751
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0050753
name: cerebellar ataxia
alt_id: OMIA:000078
alt_id: OMIA:001692
alt_id: OMIA:001913
alt_id: OMIA:001954
alt_id: OMIA:002110
def: "A hereditary ataxia that is characterized by ataxia originating in the cerebellum. (DO)" [http://en.wikipedia.org/wiki/Cerebellar_ataxia "DO"]
synonym: "adiadochokineses" EXACT []
synonym: "Adiadochokinesis" EXACT []
synonym: "Ataxia, cerebellar, juvenile to adolescent, RAB24-related" NARROW []
synonym: "Ataxia, cerebellar, neonatal" NARROW []
synonym: "Ataxia, cerebellar, neonatal, GRM1-related" NARROW []
synonym: "Ataxia, cerebellar, progressive early-onset" NARROW []
synonym: "Ataxia, cerebellar, progressive early-onset, SEL1L-related" NARROW []
synonym: "cerebellar ataxia, juvenile to adolescent" NARROW []
synonym: "cerebellar ataxias" EXACT []
synonym: "Cerebellar Dysmetria" EXACT []
synonym: "Cerebellar Dysmetrias" EXACT []
synonym: "Cerebellar Hemiataxia" EXACT []
synonym: "Cerebellar Hemiataxias" EXACT []
synonym: "Cerebellar Incoordination" EXACT []
synonym: "Cerebellar Incoordinations" EXACT []
synonym: "Dysmetria" EXACT []
synonym: "Dysmetrias" EXACT []
synonym: "hypermetria" EXACT []
synonym: "hypermetrias" EXACT []
synonym: "neurodegenerative vacuolar storage disease" NARROW []
xref: MESH:D002524
is_a: DOID:0050951 ! hereditary ataxia
is_a: DOID:9002121 ! Spinocerebellar Ataxias

[Term]
id: DOID:0050754
name: ataxia with oculomotor apraxia type 1
alt_id: MIM:208920
def: "An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1 "DO"]
synonym: "adult-onset ataxia with oculomotor apraxia" EXACT []
synonym: "AOA" EXACT []
synonym: "AOA1" EXACT []
synonym: "ataxia-oculomotor apraxia 1" EXACT []
synonym: "ataxia-oculomotor apraxia syndrome" EXACT []
synonym: "Ataxia-telangiectasia-like syndrome" EXACT []
synonym: "CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA" NARROW []
synonym: "EAOH" EXACT []
synonym: "Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia" EXACT []
synonym: "Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia" EXACT []
synonym: "EOCA-HA  ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA" NARROW []
xref: GARD:9283
xref: MESH:C538013
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
is_a: DOID:0060135 ! apraxia
is_a: DOID:9007271 ! Hypoalbuminemia

[Term]
id: DOID:0050755
name: spinocerebellar ataxia with axonal neuropathy 2
alt_id: MIM:606002
def: "An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19696032/ "DO", https://pubmed.ncbi.nlm.nih.gov/23786967/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1154/ "DO"]
synonym: "AOA2" EXACT []
synonym: "ataxia-ocular apraxia 2" EXACT []
synonym: "ataxia-oculomotor apraxia 2" EXACT []
synonym: "ataxia with oculomotor apraxia" EXACT []
synonym: "ataxia with oculomotor apraxia type 2" EXACT []
synonym: "autosomal recessive spinocerebellar ataxia 1" EXACT []
synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy 2" EXACT []
synonym: "recessive spinocerebellar ataxia, Non-Friedreich type 1" EXACT []
synonym: "SCAN2" EXACT []
synonym: "SCAR1" EXACT []
synonym: "SETX-RELATED CONDITION" BROAD []
synonym: "SETX-RELATED DISORDER" BROAD []
synonym: "SETX-RELATED DISORDERS" BROAD []
synonym: "spinocerebellar ataxia with axonal neuropathy type 2" EXACT []
xref: GARD:12860
xref: MESH:C537308
xref: NCI:C165500
xref: ORDO:64753
is_a: DOID:0060135 ! apraxia
is_a: DOID:9000588 ! Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050757
name: deafness-dystonia-optic neuronopathy syndrome
alt_id: DOID:0050867
alt_id: MIM:304700
def: "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. (DO)" [http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome "DO", http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome "DO", http://omim.org/entry/304700 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1216/ "DO"]
synonym: "DDP" EXACT []
synonym: "DDS" EXACT []
synonym: "deafness (DFN-1) dystonia, mental deficiency and blindness" EXACT []
synonym: "deafness-dystonia-optic atrophy syndrome" EXACT []
synonym: "deafness dystonia syndrome" EXACT []
synonym: "Jensen syndrome" EXACT []
synonym: "Mohr-Tranebjaerg syndrome" EXACT []
synonym: "Mohr-Tranebjærg Syndrome" EXACT []
synonym: "MTS" EXACT []
synonym: "nerve deafness, optic nerve atrophy, and dementia" EXACT []
synonym: "opticoacoustic nerve atrophy with dementia" EXACT []
synonym: "opticoacustic nerve atrophy with dementia" EXACT []
synonym: "progressive deafness syndrome with blindness, dystonia, fractures, and mental deficiency" EXACT []
synonym: "syndrome of opticoacoustic nerve atrophy with dementia" EXACT []
xref: MESH:C535808
xref: MESH:C537568
xref: ORDO:3213
is_a: DOID:0060140 ! cortical deafness
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1307 ! dementia
is_a: DOID:225 ! syndrome
is_a: DOID:543 ! dystonia
is_a: DOID:5723 ! optic atrophy
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9005165 ! Deaf-Blind Disorders
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:0050758
name: metabolic acidosis
def: "An acquired metabolic disease that characterized by excessive production of acid. (DO)" [http://en.wikipedia.org/wiki/Metabolic_acidosis "DO", https://medlineplus.gov/ency/article/000335.htm "DO"]
synonym: "metabolic acidoses" EXACT []
is_a: DOID:0060158 ! acquired metabolic disease
is_a: DOID:9002802 ! Acidoses

[Term]
id: DOID:0050759
name: myotonic dystrophy type 2
def: "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. (DO)" [http://ghr.nlm.nih.gov/condition/myotonic-dystrophy "DO", http://www.ncbi.nlm.nih.gov/books/NBK1466/ "DO"]
synonym: "proximal myotonic dystrophy" EXACT []
synonym: "proximal myotonic myopathy" EXACT []
synonym: "Ricker disease" EXACT []
synonym: "Ricker syndrome" EXACT []
xref: GARD:9728
xref: ICD10CM:G71.1
xref: MIM:602668
xref: NCI:C122789
xref: NCI:C122790
xref: ORDO:606
is_a: DOID:450 ! myotonic disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0050760
name: X-linked myopathy with excessive autophagy
alt_id: MIM:310440
alt_id: RDO:0013167
def: "A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28. (DO)" [https://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/ "DO"]
synonym: "MEAX" EXACT []
synonym: "XMEA" EXACT []
xref: GARD:3892
xref: MESH:C564093
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:423 ! myopathy

[Term]
id: DOID:0050762
name: adenylosuccinase lyase deficiency
alt_id: MIM:103050
def: "An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. (DO)" [https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency "DO"]
synonym: "Adenylosuccinase deficiency" EXACT []
synonym: "adenylosuccinate lyase deficiency" EXACT []
synonym: "Adenylosuccinate lyase deficiency type 1" EXACT []
synonym: "Adenylosuccinate lyase deficiency type 2" EXACT []
synonym: "Adenylosuccinate lyase deficiency type 3" EXACT []
synonym: "Adenylosuccinate lyase deficiency type 4" EXACT []
synonym: "ADSLD" EXACT []
synonym: "ADSL deficiency" EXACT []
synonym: "ADSL-RELATED CONDITION" EXACT []
synonym: "succinylpurinemic autism" EXACT []
xref: GARD:550
xref: MESH:C538235
xref: RDO:0004188
is_a: DOID:12849 ! autistic disorder
is_a: DOID:653 ! purine-pyrimidine metabolic disorder
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0050763
name: ARC syndrome
def: "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. (DO)" [http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/16896922 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22753090 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24415890 "DO"]
synonym: "ARCS" EXACT []
synonym: "arthrogryposis multiplex congenita, renal dysfunction, and cholestasis" EXACT []
synonym: "arthrogryposis, renal dysfunction, and cholestasis" EXACT []
synonym: "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome" EXACT []
synonym: "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS SYNDROME" EXACT []
synonym: "arthrogryposis-renal dysfunction-cholestasis" EXACT []
synonym: "arthrogryposis renal dysfunction cholestasis syndrome" EXACT []
synonym: "arthrogryposis with renal dysfunction and cholestasis syndrome" EXACT []
xref: MESH:C535382
xref: MIM:PS208085
xref: ORDO:2697
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:1074 ! kidney failure
is_a: DOID:13580 ! cholestasis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0050764
name: Armfield syndrome
alt_id: MIM:300261
def: "A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10398235 "DO"]
synonym: "Armfield X-Linked Mental Retardation Syndrome" EXACT []
synonym: "FAM50A-RELATED CONDITION" EXACT []
synonym: "Mental Retardation, X-Linked, Armfield Type" EXACT []
synonym: "MRXSA" EXACT []
synonym: "X-linked intellectual disability, Armfield type" EXACT []
synonym: "X-linked mental retardation syndrome, Armfield type" EXACT []
synonym: "X-linked syndromic intellectual developmental disorder, Armfield type" EXACT []
synonym: "X-linked syndromic mental retardation, Armfield type" EXACT []
xref: MESH:C564551
xref: ORDO:85276
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0050765
name: neuroacanthocytosis
def: "A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. (DO)" [https://en.wikipedia.org/wiki/Neuroacanthocytosis "DO", https://rarediseases.org/rare-diseases/neuroacanthocytosis/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1387/ "DO"]
synonym: "acanthocytosis with neurologic disorder" EXACT []
xref: GARD:10902
xref: MESH:D054546
xref: ORDO:263440
is_a: DOID:12859 ! choreatic disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:0050766
name: choreaacanthocytosis
def: "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. (DO)" [https://en.wikipedia.org/wiki/Chorea_acanthocytosis "DO", https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/9382101 "DO"]
synonym: "CHAC" EXACT []
synonym: "chorea acanthocytosis" EXACT []
synonym: "chorea acanthocytosis syndrome" EXACT []
synonym: "choreo-acanthocytosis" EXACT []
synonym: "choreoacanthocytosis" EXACT []
synonym: "Levine-Critchley syndrome" EXACT []
synonym: "VPS13A-RELATED CONDITION" EXACT []
xref: GARD:3956
xref: MIM:200150
xref: NCI:C84926
xref: ORDO:2388
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050765 ! neuroacanthocytosis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050767
name: midface dysplasia
def: "An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele. (DO)" [https://en.wikipedia.org/wiki/Frontonasal_dysplasia "DO"]
is_a: DOID:2256 ! osteochondrodysplasia
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0050768
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 1
def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. (DO)" [http://omim.org/entry/604273 "DO"]
synonym: "MC5DN1" EXACT []
synonym: "mitochondrial complex V (ATP synthase) deficiency, ATPAF2 type" EXACT []
xref: MIM:604273
is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency

[Term]
id: DOID:0050769
name: N syndrome
alt_id: MIM:310465
def: "A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity. (DO)" [https://rarediseases.info.nih.gov/diseases/3902/n-syndrome "DO"]
synonym: "NSX" EXACT []
xref: GARD:3902
xref: MESH:C536108
xref: ORDO:2608
is_a: DOID:1059 ! intellectual disability
is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders

[Term]
id: DOID:0050770
name: polycystic liver disease
def: "A liver disease that is characterized by the presence of multiple cysts located_in the liver. (DO)" [https://rarediseases.org/rare-diseases/polycystic-liver-disease/ "DO"]
synonym: "congenital cystic disease of liver" EXACT []
synonym: "congenital cystic liver disease" EXACT []
synonym: "congenital hepatic cyst" EXACT []
synonym: "cystic liver disease" BROAD []
synonym: "fibrocystic liver disease" EXACT []
xref: EFO:1001505
xref: GARD:9457
xref: MESH:C536330
xref: MIM:PS174050
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:409 ! liver disease
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:0050771
name: pheochromocytoma
alt_id: MIM:171300
def: "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure. (DO)" [https://en.wikipedia.org/wiki/Pheochromocytoma "DO", https://rarediseases.info.nih.gov/diseases/7385/pheochromocytoma "DO", https://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367 "DO", https://www.omim.org/entry/171300 "DO"]
synonym: "Benign Adrenal Gland Pheochromocytoma" EXACT []
synonym: "phaeochromocytoma" EXACT []
synonym: "pheochromocytomas" EXACT []
synonym: "pheochromocytoma, susceptibility to" RELATED []
xref: EFO:1000106
xref: GARD:7385
xref: MESH:D010673
xref: MONDO:0008233
is_a: DOID:0060089 ! endocrine organ benign neoplasm

[Term]
id: DOID:0050772
name: spastic ataxia 1
alt_id: MIM:108600
def: "A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13. (DO)" [https://rarediseases.info.nih.gov/diseases/4910/spastic-ataxia-charlevoix-saguenay-type "DO"]
synonym: "spastic ataxia 1, autosomal dominant" EXACT []
synonym: "SPAX1" EXACT []
xref: MESH:C566993
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050952 ! spastic ataxia
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0050773
name: paraganglioma
alt_id: DOID:9000364
def: "A pheochromocytoma that arises in extraadrenal sympathetic ganglia. (DO)" [https://en.wikipedia.org/wiki/Paraganglioma "DO", https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma "DO"]
synonym: "Bladder Paraganglioma" NARROW []
synonym: "CBT1" EXACT []
synonym: "chemodectoma" EXACT []
synonym: "Chemodectomas" EXACT []
synonym: "Extra-Adrenal Paraganglioma" EXACT []
synonym: "Extra-Adrenal Paragangliomas" EXACT []
synonym: "extra-adrenal sympathetic paraganglioma" EXACT []
synonym: "gangliocytic paraganglioma" EXACT []
synonym: "gangliocytic paragangliomas" EXACT []
synonym: "glomus body tumor" EXACT []
synonym: "hereditary paragangliomas and pheochromocytomas" EXACT []
synonym: "Non-Chromaffin Paraganglioma" EXACT []
synonym: "Nonchromaffin Paraganglioma" EXACT []
synonym: "Non-Chromaffin Paragangliomas" EXACT []
synonym: "Nonchromaffin Paragangliomas" EXACT []
synonym: "paraganglioma, familial malignant" NARROW []
synonym: "paragangliomas" EXACT []
synonym: "paragangliomata" EXACT []
synonym: "PGL" EXACT []
synonym: "pheochromocytoma-paraganglioma" EXACT []
synonym: "Vagus Nerve Paraganglioma" NARROW []
xref: EFO:0000489
xref: EFO:0020005
xref: EFO:1000128
xref: EFO:1000453
xref: EFO:1000621
xref: ICDO:8680/3
xref: MESH:D010235
xref: MESH:D010236
xref: MIM:PS168000
xref: NCI:C3308
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050771 ! pheochromocytoma

[Term]
id: DOID:0050774
name: rapadilino syndrome
alt_id: MIM:266280
def: "A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. (DO)" [https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome "DO"]
synonym: "radial and patellar aplasia" EXACT []
synonym: "radial and patellar hypoplasia" EXACT []
xref: GARD:4637
xref: MESH:C535288
xref: ORDO:3021
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:2732 ! Rothmund-Thomson syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0050775
name: schneckenbecken dysplasia
alt_id: RDO:0002274
def: "An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31. (DO)" [https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia "DO"]
synonym: "Chondrodysplasia, lethal neonatal, with snail-like pelvis" EXACT []
synonym: "SHNKND" EXACT []
xref: GARD:169
xref: MESH:C536637
xref: MIM:269250
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0050776
name: non-syndromic X-linked intellectual disability
def: "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7011032 "DO"]
synonym: "X-linked non-specific mental retardation" EXACT []
xref: MESH:C564490
xref: MIM:PS309530
xref: ORDO:777
is_a: DOID:0050889 ! non-syndromic intellectual disability
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:0050777
name: Joubert syndrome
def: "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO)" [http://en.wikipedia.org/wiki/Joubert_syndrome "DO", http://omim.org/entry/213300?search=joubert&highlight=joubert "DO"]
synonym: "JBTS" EXACT []
synonym: "Joubert syndrome and related disorders" EXACT []
xref: GARD:6802
xref: MIM:PS213300
xref: NCI:C74996
xref: ORDO:475
is_a: DOID:0060340 ! ciliopathy
is_a: DOID:2786 ! cerebellar disease
created_by: rgd
creation_date: 2016-11-09T00:00:00Z

[Term]
id: DOID:0050778
name: Meckel syndrome
def: "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. (DO)" [http://en.wikipedia.org/wiki/Meckel_syndrome "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract "DO"]
synonym: "Meckel Gruber syndrome" EXACT []
xref: GARD:3436
xref: ICD9CM:753.1
xref: MIM:PS249000
xref: NCI:C98978
xref: ORDO:564
is_a: DOID:0060340 ! ciliopathy
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050779
name: hydrolethalus syndrome
def: "A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1 "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15843405 "DO"]
synonym: "Salonen-Herva-Norio syndrome" EXACT []
xref: EFO:1000033
xref: GARD:6683
xref: MESH:C536079
xref: MIM:PS236680
xref: MONDO:0006037
xref: ORDO:2189
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:1148 ! polydactyly
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0050781
name: Ogden syndrome
def: "A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28. (DO)" [https://en.wikipedia.org/wiki/Ogden_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21700266 "DO"]
synonym: "N-alpha-acetyltransferase" EXACT []
synonym: "NATD" EXACT []
synonym: "N-terminal acetyltransferase deficiency" EXACT []
synonym: "OGDNS" EXACT []
synonym: "X-linked malformation and infantile lethality syndrome" EXACT []
xref: MIM:300855
xref: NCI:C188215
xref: ORDO:276432
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:225 ! syndrome
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:9003648 ! N Acetyltransferase Deficiency
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:0050782
name: Zollinger-Ellison syndrome
def: "A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. (DO)" [http://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract "DO", https://www.ncbi.nlm.nih.gov/pubmed/28949124 "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/zollinger-ellison-syndrome "DO"]
xref: EFO:0007549
xref: GARD:7918
xref: ICD10CM:E16.4
xref: MESH:D015043
xref: NCI:C3453
is_a: DOID:750 ! peptic ulcer disease
is_a: DOID:76 ! stomach disease
is_a: DOID:9006730 ! Paraneoplastic Endocrine Syndromes
is_a: DOID:9006796 ! Gastrointestinal Neoplasms

[Term]
id: DOID:0050783
name: secondary progressive multiple sclerosis
def: "A multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. (DO)" [http://www.mayoclinic.org/multiple-sclerosis/types.html "DO", http://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms "DO"]
synonym: "chronic progressive multiple sclerosis" EXACT []
synonym: "Secondary-progressive MS" EXACT []
synonym: "SPMS" EXACT []
xref: EFO:0003840
xref: EFO:0008522
is_a: DOID:2377 ! multiple sclerosis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0050784
name: primary progressive multiple sclerosis
def: "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. (DO)" [http://www.mayoclinic.org/multiple-sclerosis/types.html "DO", http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx "DO"]
synonym: "chronic progressive multiple sclerosis" EXACT []
synonym: "PPMS" EXACT []
synonym: "primary-progressive MS" EXACT []
synonym: "progressive remittent multiple sclerosis" EXACT []
xref: EFO:0003840
xref: EFO:0008520
xref: MESH:D020528
is_a: DOID:2377 ! multiple sclerosis

[Term]
id: DOID:0050785
name: progressive relapsing multiple sclerosis
def: "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35400704/ "DO"]
synonym: "PRMS" EXACT []
synonym: "progressive-relapsing MS" EXACT []
xref: EFO:0003840
is_a: DOID:2377 ! multiple sclerosis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0050786
name: iridogoniodysgenesis syndrome
def: "An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. (DO)" [http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome "DO", http://rarediseases.info.nih.gov/gard/3026/disease/resources/1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19175065 "DO"]
synonym: "IGDS" EXACT []
synonym: "iridogoniodysgenesis" EXACT []
xref: MONDO:0011119
xref: ORDO:98634
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:240 ! iris disease
is_a: DOID:9008296 ! Eye Abnormalities
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050787
name: juvenile polyposis syndrome
alt_id: MIM:174900
def: "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. (DO)" [http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome "DO", http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome "DO", http://www.ncbi.nlm.nih.gov/books/NBK1469/ "DO"]
synonym: "BMPR1A-related juvenile polyposis" EXACT []
synonym: "familial polyposis of entire gastrointestinal tract" EXACT []
synonym: "GENERALIZED JUVENILE POLYPOSIS/JUVENILE POLYPOSIS COLI" EXACT []
synonym: "JIP" EXACT []
synonym: "JPS" EXACT []
synonym: "juvenile intestinal polyposis" EXACT []
synonym: "Juvenile Polyp" RELATED []
synonym: "JUVENILE POLYPOSIS" EXACT []
synonym: "JUVENILE POLYPOSIS COLI" NARROW []
synonym: "Juvenile Polyposis, Infantile" EXACT []
synonym: "Juvenile Polyposis Of Infancy" EXACT []
synonym: "juvenile polyposis of stomach" EXACT []
synonym: "PJI" EXACT []
synonym: "SMAD4-related juvenile polyposis" EXACT []
xref: EFO:1000310
xref: GARD:3065
xref: MESH:C537702
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:6225 ! Cronkhite-Canada syndrome
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:0050788
name: proximal symphalangism
def: "A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. (DO)" [http://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1 "DO"]
synonym: "Cushing's symphalangism" EXACT []
synonym: "Cushing symphalangism" EXACT []
synonym: "hereditary absence of proximal interphalangeal joints" EXACT []
synonym: "hereditary absence of the proximal interphalangeal joints" EXACT []
synonym: "Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome" EXACT []
synonym: "Strasburger-Hawkins-Eldridge syndrome" EXACT []
synonym: "SYMPHALANGISM AFFECTING THE PROXIMAL PHALANX OF THE 4TH FINGER" NARROW []
synonym: "Vessel's syndrome" EXACT []
xref: GARD:8182
xref: MESH:C536223
xref: MIM:PS185800
xref: ORDO:3250
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080001 ! bone disease
is_a: DOID:225 ! syndrome
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:0050789
name: tarsal-carpal coalition syndrome
def: "A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. (DO)" [http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/22326510 "DO"]
synonym: "NOG-Related-Symphalangism Spectrum Disorder" EXACT []
synonym: "synostosis of talus and calcaneus with short stature" RELATED []
synonym: "TCC" EXACT []
xref: GARD:9225
xref: MESH:C536943
xref: MIM:186570
xref: MONDO:0008521
xref: ORDO:1412
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11193 ! syndactyly
is_a: DOID:11971 ! synostosis
is_a: DOID:227 ! ankylosis
is_a: DOID:2742 ! auditory system disease
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9834 ! hyperopia

[Term]
id: DOID:0050790
name: fibular hypoplasia and complex brachydactyly
alt_id: MIM:228900
def: "An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly. (DO)" [https://en.wikipedia.org/wiki/Acromesomelic_dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/16222676 "DO"]
synonym: "acromesomelic dysplasia 2B" EXACT []
synonym: "AMD2B" EXACT []
synonym: "Du Pan syndrome" EXACT []
xref: MESH:C537931
xref: ORDO:2639
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080049 ! acromesomelic dysplasia

[Term]
id: DOID:0050791
name: persistent Mullerian duct syndrome
alt_id: MIM:261550
alt_id: OMIA:000791
def: "A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. (DO)" [http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome "DO", http://omim.org/entry/261550?search=261550&highlight=261550 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20352001 "DO"]
synonym: "AMHR2-RELATED CONDITION" EXACT []
synonym: "AMH-RELATED CONDITION" NARROW []
synonym: "FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE" EXACT []
synonym: "hernia uteri inguinale" EXACT []
synonym: "Persistent M?llerian Duct Syndrome" EXACT []
synonym: "persistent Muellerian duct syndrome" EXACT []
synonym: "Persistent Mullerian duct syndrome, type I" NARROW []
synonym: "Persistent Mullerian duct syndrome, type II" NARROW []
synonym: "Persistent mullerian duct syndrome, types 1 and 2" EXACT []
synonym: "persistent Mullerian duct syndrome, types I and II" EXACT []
synonym: "persistent oviduct syndrome" EXACT []
synonym: "PMDS" EXACT []
synonym: "pseudohermaphroditism, male internal" EXACT []
xref: GARD:8435
xref: MESH:C536665
xref: MONDO:0009857
xref: NCI:C120188
xref: ORDO:2856
is_a: DOID:15 ! reproductive system disease
is_a: DOID:225 ! syndrome
is_a: DOID:3765 ! pseudohermaphroditism
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development

[Term]
id: DOID:0050792
name: multiple cutaneous and mucosal venous malformations
alt_id: MIM:600195
def: "A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. (DO)" [http://omim.org/entry/600195?search=600195&highlight=600195 "DO", https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301733 "DO"]
synonym: "cutaneomucosal venous malformation" EXACT []
synonym: "CUTANEOUS VENOUS MALFORMATION" NARROW []
synonym: "mucocutaneous venous malformations" EXACT []
synonym: "SEGMENTAL UNDERGROWTH ASSOCIATED WITH VENOUS MALFORMATION WITHOUT CAPILLARY COMPONENT" NARROW []
synonym: "TEK-RELATED CONDITION" BROAD []
synonym: "VMCM" EXACT []
synonym: "VMCM1" EXACT []
xref: MESH:C563977
xref: ORDO:2451
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11294 ! arteriovenous malformation
is_a: DOID:37 ! skin disease
is_a: DOID:866 ! vein disease

[Term]
id: DOID:0050793
name: short QT syndrome
def: "A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. (DO)" [http://en.wikipedia.org/wiki/Short_QT_syndrome "DO", http://ghr.nlm.nih.gov/condition/short-qt-syndrome "DO", http://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083 "DO"]
synonym: "SHORT QT SYNDROME 4" NARROW []
synonym: "SHORT QT SYNDROME 5" NARROW []
xref: EFO:0004690
xref: MESH:C580439
xref: MIM:PS609620
xref: MONDO:0000453
xref: NCI:C71060
is_a: DOID:10273 ! heart conduction disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:0050794
name: multiple synostoses syndrome
def: "A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/ "DO"]
xref: MIM:PS186500
xref: ORDO:3237
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11971 ! synostosis
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050795
name: cone dystrophy
def: "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (DO)" [http://en.wikipedia.org/wiki/Cone_dystrophy "DO", http://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract "DO", http://www.ncbi.nlm.nih.gov/books/NBK1418/ "DO"]
synonym: "retinal cone dystrophy" EXACT []
xref: GARD:11897
xref: MESH:D000077765
is_a: DOID:5679 ! retinal disease
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050796
name: achalasia microcephaly syndrome
alt_id: MIM:200450
def: "A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). (DO)" [http://omim.org/entry/200450 "DO", http://rarediseases.info.nih.gov/gard/456/disease/resources/1 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN "DO"]
synonym: "achalasia microcephaly" EXACT []
xref: GARD:456
xref: MESH:C536010
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9164 ! achalasia

[Term]
id: DOID:0050797
name: peroxisomal acyl-CoA oxidase deficiency
alt_id: MIM:264470
def: "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1. (DO)" [http://www.omim.org/entry/264470 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11815777 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17458872 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18536048 "DO"]
synonym: "ACOX1-RELATED CONDITION" BROAD []
synonym: "ACOX1-RELATED DISORDER" BROAD []
synonym: "peroxisomal acyl-coenzyme A oxidase" EXACT []
synonym: "pseudoneonatal adrenoleukodystrophy" EXACT []
synonym: "straight-chain ACYL-COA oxidase deficiency" EXACT []
xref: GARD:4543
xref: MESH:C536662
xref: NCI:C170437
xref: ORDO:2971
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10588 ! adrenoleukodystrophy
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:906 ! peroxisomal disease

[Term]
id: DOID:0050798
name: cerebral creatine deficiency syndrome
def: "An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17603797 "DO", https://www.omim.org/entry/300352 "DO"]
xref: MIM:PS300352
is_a: DOID:225 ! syndrome
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050799
name: guanidinoacetate methyltransferase deficiency
alt_id: MIM:612736
def: "A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. (DO)" [https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency "DO"]
synonym: "CCDS2" EXACT []
synonym: "cerebral creatine deficiency syndrome 2" EXACT []
synonym: "creatine deficiency syndrome due to GAMT deficiency" EXACT []
synonym: "GAMT deficiency" EXACT []
synonym: "GAMT-RELATED CONDITION" EXACT []
xref: GARD:2578
xref: MESH:C537622
xref: NCI:C173468
is_a: DOID:0050798 ! cerebral creatine deficiency syndrome
is_a: DOID:480 ! movement disease
is_a: DOID:9005466 ! Language Development Disorders

[Term]
id: DOID:0050800
name: cerebral creatine deficiency syndrome 1
alt_id: MIM:300352
def: "A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17603797 "DO", https://www.omim.org/entry/300352 "DO"]
synonym: "CCDS1" EXACT []
synonym: "creatine deficiency syndrome 1" EXACT []
synonym: "Creatine Deficiency, X-Linked" EXACT []
synonym: "Creatine Transporter Defect" EXACT []
synonym: "creatine transporter deficiency" EXACT []
synonym: "SLC6A8 deficiency" EXACT []
synonym: "SLC6A8-related creatine transporter deficiency" EXACT []
synonym: "X-linked creatine deficiency syndrome" EXACT []
synonym: "X-linked creatine transporter deficiency" EXACT []
synonym: "X-linked mental retardation with creatine transport deficiency" EXACT []
synonym: "X-linked mental retardation with seizures, short stature, and midface hypoplasia" EXACT []
xref: MESH:C535598
xref: NCI:C125665
xref: ORDO:52503
is_a: DOID:0050798 ! cerebral creatine deficiency syndrome
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:0050801
name: androgenic alopecia
def: "An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males. (DO)" [https://ghr.nlm.nih.gov/condition/androgenetic-alopecia "DO"]
synonym: "alopecia androgenetica, male pattern baldness" EXACT []
synonym: "androgenetic alopecia" EXACT []
xref: EFO:0004191
xref: GARD:9269
is_a: DOID:987 ! alopecia

[Term]
id: DOID:0050802
name: Ehlers-Danlos syndrome spondylodysplastic type 2
def: "An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm "DO"]
synonym: "EDSP2" EXACT []
synonym: "EDSSPD2" EXACT []
synonym: "Ehlers-Danlos syndrome, progeroid form" BROAD []
synonym: "Ehlers-Danlos syndrome progeroid type" EXACT []
synonym: "Ehlers-Danlos syndrome, progeroid type, 2" EXACT []
synonym: "progeroid variant of Ehlers-Danlos syndrome" BROAD []
xref: MIM:615349
xref: ORDO:75496
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome

[Term]
id: DOID:0050803
name: glioblastoma classical subtype
def: "A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. (DO)" [http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes "DO", http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"]
is_a: DOID:3068 ! glioblastoma
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:0050804
name: glioblastoma proneural subtype
def: "A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. (DO)" [http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"]
is_a: DOID:3068 ! glioblastoma
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:0050805
name: glioblastoma mesenchymal subtype
def: "A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. (DO)" [http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"]
is_a: DOID:3068 ! glioblastoma
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:0050806
name: glioblastoma neural subtype
def: "A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. (DO)" [http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"]
is_a: DOID:3068 ! glioblastoma
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:0050807
name: Kahrizi syndrome
alt_id: MIM:612713
def: "A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. (DO)" [http://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972 "DO"]
synonym: "intellectual disability-cataract-coloboma-kyphosis syndrome" EXACT []
synonym: "intellectual disability, Kahrizi type" EXACT []
synonym: "KHRZ" EXACT []
synonym: "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive" EXACT []
xref: MESH:C567196
xref: ORDO:168972
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12270 ! coloboma
is_a: DOID:225 ! syndrome
is_a: DOID:4667 ! kyphosis
is_a: DOID:83 ! cataract
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:0050809
name: mucopolysaccharidosis IX
alt_id: MIM:601492
def: "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. (DO)" [http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII "DO"]
synonym: "DEFICIENCY OF HYALURONOGLUCOSAMINIDASE" EXACT []
synonym: "hyaluronidase deficiency" EXACT []
synonym: "MPS9" EXACT []
synonym: "MPS IX" EXACT []
synonym: "mucopolysaccharidosis type IX" EXACT []
xref: MESH:C563209
xref: NCI:C129073
xref: ORDO:67041
is_a: DOID:12798 ! mucopolysaccharidosis

[Term]
id: DOID:0050810
name: biotin deficiency
def: "A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. (DO)" [http://en.wikipedia.org/wiki/Biotin_deficiency "DO", http://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK547751/ "DO"]
synonym: "B7 deficiency" EXACT []
xref: MESH:C531633
is_a: DOID:5113 ! nutritional deficiency disease
is_a: DOID:856 ! biotinidase deficiency

[Term]
id: DOID:0050811
name: congenital adrenal hyperplasia
def: "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency. (DO)" [http://omim.org/entry/201710 "DO", http://www.genome.jp/dbget-bin/www_bget?ds\:H00216 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0 "DO"]
synonym: "adrenal hypoplasia congenita" EXACT []
synonym: "congenital adrenal hyperplasias" EXACT []
synonym: "congenital lipoid adrenal hyperplasia" EXACT []
synonym: "lipoid CAH" EXACT []
xref: GARD:1465
xref: GARD:1467
xref: ICD10CM:E25
xref: ICD9CM:255.2
xref: MESH:D000312
xref: ORDO:418
is_a: DOID:0080015 ! physical disorder
is_a: DOID:1701 ! steroid inherited metabolic disorder
is_a: DOID:9002128 ! Adrenogenital Syndrome
is_a: DOID:9553 ! adrenal gland disease

[Term]
id: DOID:0050812
name: spondyloepimetaphyseal dysplasia, Pakistani type
alt_id: MESH:C567552
alt_id: MIM:612847
def: "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. (DO)" [http://omim.org/entry/612847 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 "DO"]
synonym: "BCYM4" EXACT []
synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes" EXACT []
synonym: "SEMD, Pakistani type" EXACT []
synonym: "spondylodysplasia and premature pubarche" EXACT []
xref: MESH:C567551
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007284 ! Precocious Puberty

[Term]
id: DOID:0050813
name: spondyloepiphyseal dysplasia with congenital joint dislocations
alt_id: MIM:143095
def: "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. (DO)" [http://www.uniprot.org/diseases/DI-01753 "DO"]
synonym: "CDMD" EXACT []
synonym: "chondrodysplasia with multiple dislocations" EXACT []
synonym: "CHST3-related skeletal dysplasia" EXACT []
synonym: "HSD" EXACT []
synonym: "humero-spinal dysostosis" EXACT []
synonym: "humerospinal dysostosis" EXACT []
synonym: "humero-spinal dysostosis with congenital heart disease" EXACT []
synonym: "Kozlowski Celermajer Tink syndrome" EXACT []
synonym: "Omani Type" EXACT []
synonym: "Omani type of spondyloepiphyseal dysplasia" EXACT []
synonym: "SEDCJD" EXACT []
synonym: "SED, Omani type" EXACT []
synonym: "SED with luxations, CHST3 type" EXACT []
synonym: "spondyloepiphyseal dysplasia" EXACT []
synonym: "spondyloepiphyseal dysplasia, CHST3-related" EXACT []
synonym: "spondyloepiphyseal dysplasia, Omani type" EXACT []
xref: MESH:C535789
is_a: DOID:0080015 ! physical disorder
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia

[Term]
id: DOID:0050814
name: temtamy preaxial brachydactyly syndrome
alt_id: MIM:605282
def: "A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. (DO)" [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417 "DO", http://www.sciencedirect.com/science/article/pii/S1769721213002449 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21129728 "DO"]
synonym: "Preaxial brachydactyly syndrome, Temtamy type" EXACT []
synonym: "TPBS" EXACT []
xref: GARD:9679
xref: MESH:C536958
xref: ORDO:363417
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9001018 ! Mouth Abnormalities
is_a: DOID:9008681 ! Deafness
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:0050816
name: urofacial syndrome
def: "A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. (DO)" [http://en.wikipedia.org/wiki/Urofacial_syndrome "DO", http://omim.org/entry/236730 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704 "DO"]
synonym: "hydronephrosis-inverted smile" EXACT []
synonym: "hydronephrosis with peculiar facial expression" EXACT []
synonym: "Inverted smile and occult neuropathic bladder" EXACT []
synonym: "inverted smile-neurogenic bladder" EXACT []
synonym: "Ochoa syndrome" EXACT []
synonym: "partial facial palsy with urinary abnormalities" EXACT []
synonym: "UFS" EXACT []
synonym: "urofacial Ochoa's syndrome" EXACT []
xref: GARD:2781
xref: MESH:C536480
xref: MIM:PS236730
xref: ORDO:2704
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:18 ! urinary system disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:0050817
name: Stargardt disease
def: "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. (DO)" [http://en.wikipedia.org/wiki/Stargardt_disease "DO"]
synonym: "juvenile macular degeneration" EXACT []
synonym: "Stargardt's disease" EXACT []
synonym: "Stargardt macular degeneration" EXACT []
synonym: "STGD" EXACT []
xref: GARD:181
xref: MESH:D000080362
xref: NCI:C85078
xref: ORDO:827
is_a: DOID:10871 ! age related macular degeneration
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0050818
name: transcobalamin II deficiency
def: "A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. (DO)" [http://omim.org/entry/275350 "DO", https://www.orpha.net/data/patho/GB/uk-TCII.pdf "DO"]
synonym: "TC II DEFICIENCY" EXACT []
synonym: "TCN2 DEFICIENCY" EXACT []
xref: MIM:275350
xref: NCI:C142806
xref: RDO:0008510
is_a: DOID:0050731 ! vitamin B12 deficiency

[Term]
id: DOID:0050820
name: atrioventricular block
def: "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. (DO)" [http://en.wikipedia.org/wiki/Atrioventricular_block "DO"]
synonym: "Atrioventricular Blocks" EXACT []
synonym: "Atrioventricular Conduction Block" EXACT []
synonym: "Atrioventricular Conduction Blocks" EXACT []
synonym: "AV block" EXACT []
synonym: "AV blocks" EXACT []
synonym: "AV Block Third Degree Adverse Event" RELATED []
xref: EFO:0005305
xref: ICD10CM:I44.3
xref: ICD9CM:426.10
xref: MESH:D054537
xref: NCI:C26703
is_a: DOID:10273 ! heart conduction disease
is_a: DOID:9003163 ! Heart Block

[Term]
id: DOID:0050821
name: first-degree atrioventricular block
def: "An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node. (DO)" [https://en.wikipedia.org/wiki/First-degree_atrioventricular_block "DO"]
xref: RDO:9000763
is_a: DOID:0050820 ! atrioventricular block
created_by: rgd
creation_date: 2016-03-10T00:00:00Z

[Term]
id: DOID:0050822
name: second-degree atrioventricular block
def: "An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node. (DO)" [https://en.wikipedia.org/wiki/Second-degree_atrioventricular_block "DO"]
synonym: "idiopathic second-degree atrioventricular block" EXACT []
synonym: "second-degree heart block" EXACT []
xref: RDO:9003341
is_a: DOID:0050820 ! atrioventricular block
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050823
name: third-degree atrioventricular block
def: "An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles. (DO)" [https://en.wikipedia.org/wiki/Third-degree_atrioventricular_block "DO"]
synonym: "complete AV block" EXACT []
xref: RDO:9003343
is_a: DOID:0050820 ! atrioventricular block
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050824
name: sinoatrial node disease
def: "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. (DO)" [http://en.wikipedia.org/wiki/Sinoatrial_node "DO"]
synonym: "SA node" EXACT []
synonym: "sinuatrial node" EXACT []
xref: RDO:9002665
is_a: DOID:10273 ! heart conduction disease
is_a: DOID:66 ! muscle tissue disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0050825
name: endocardium disease
def: "A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. (DO)" [http://en.wikipedia.org/wiki/Endocardium "DO"]
is_a: DOID:114 ! heart disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0050826
name: tricuspid valve disease
def: "A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494422/ "DO"]
synonym: "disease of tricuspid valve" EXACT []
synonym: "RH. tricuspid valve disease" EXACT []
synonym: "rheumatic disease of tricuspid valve" EXACT []
synonym: "rheumatic tricuspid valve disease" EXACT []
synonym: "tricuspid disease" EXACT []
xref: EFO:0009568
xref: ICD10CM:I07
xref: ICD9CM:397.0
is_a: DOID:4079 ! heart valve disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0050827
name: rheumatic heart disease
def: "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords. (DO)" [http://en.wikipedia.org/wiki/Rheumatic_heart_disease "DO"]
synonym: "Bouillaud's Disease" EXACT []
synonym: "Bouillaud disease" EXACT []
synonym: "Bouillauds Disease" EXACT []
synonym: "rheumatic carditis" EXACT []
synonym: "rheumatic heart diseases" EXACT []
xref: EFO:1001161
xref: MESH:D012214
is_a: DOID:1586 ! rheumatic fever
is_a: DOID:4079 ! heart valve disease

[Term]
id: DOID:0050828
name: artery disease
def: "A vascular disease that is located_in an artery. (DO)" [http://en.wikipedia.org/wiki/Artery#Pathology "DO"]
xref: MIM:108000
is_a: DOID:178 ! vascular disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050829
name: pericardium disease
def: "A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. (DO)" [http://en.wikipedia.org/wiki/Pericardium "DO"]
xref: RDO:9002745
is_a: DOID:114 ! heart disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050830
name: peripheral artery disease
def: "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000170.htm "DO", https://www.nhlbi.nih.gov/health/health-topics/topics/pad/ "DO"]
synonym: "peripheral arterial disease" EXACT []
synonym: "peripheral arterial diseases" EXACT []
synonym: "peripheral artery diseases" EXACT []
xref: EFO:0004265
xref: MESH:D058729
is_a: DOID:0050828 ! artery disease
is_a: DOID:1936 ! atherosclerosis
is_a: DOID:341 ! peripheral vascular disease

[Term]
id: DOID:0050831
name: familial encephalopathy with neuroserpin inclusion bodies
alt_id: MIM:604218
def: "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. (DO)" [http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies "DO", http://www.jbc.org/content/277/19/17367 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport "DO"]
synonym: "familial dementia with neuroserpin inclusion bodies" EXACT []
synonym: "familial encephalopathy with Collins bodies" EXACT []
synonym: "FENIB" EXACT []
xref: GARD:10037
xref: MESH:C536841
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9005154 ! Myoclonic Epilepsies

[Term]
id: DOID:0050832
name: pyrimidine metabolic disorder
def: "An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. (DO)" [http://en.wikipedia.org/wiki/Pyrimidine_metabolism "DO"]
is_a: DOID:655 ! inherited metabolic disorder
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0050833
name: orotic aciduria
alt_id: MIM:258900
def: "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. (DO)" [http://en.wikipedia.org/wiki/Orotic_aciduria "DO", http://www.omim.org/entry/258900 "DO"]
synonym: "hereditary orotic aciduria" EXACT []
synonym: "hereditary orotic aciduria, type 1" EXACT []
synonym: "OAWA" NARROW []
synonym: "OPRT AND ODC DEFICIENCY" EXACT []
synonym: "Orotate phosphoribosyltransferase and omp decarboxylase deficiency" EXACT []
synonym: "OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY" EXACT []
synonym: "Oroticaciduria 1" EXACT []
synonym: "OROTIC ACIDURIA I" EXACT []
synonym: "Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency" EXACT []
synonym: "UMPS DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA" NARROW []
synonym: "UMPS-RELATED CONDITION" EXACT []
synonym: "UMP SYNTHASE DEFICIENCY" EXACT []
synonym: "Uridine monophosphate synthase deficiency" EXACT []
synonym: "uridine monophosphate synthetase deficiency" EXACT []
xref: MESH:C537136
xref: NCI:C98944
xref: ORDO:30
is_a: DOID:0050832 ! pyrimidine metabolic disorder
is_a: DOID:653 ! purine-pyrimidine metabolic disorder

[Term]
id: DOID:0050834
name: CHARGE syndrome
alt_id: MIM:214800
def: "A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. (DO)" [http://en.wikipedia.org/wiki/CHARGE_syndrome "DO", http://ghr.nlm.nih.gov/condition/charge-syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract "DO"]
synonym: "CHARGE association" EXACT []
synonym: "CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies" EXACT []
synonym: "CHARGE Associations" EXACT []
synonym: "CHARGE Syndromes" EXACT []
synonym: "CHD7-RELATED CONDITION" BROAD []
synonym: "familial CHARGE syndrome" EXACT []
synonym: "familial CHARGE syndromes" EXACT []
synonym: "Hall Hittner syndrome" EXACT []
synonym: "HHS" EXACT []
xref: GARD:29
xref: MESH:D058747
xref: NCI:C75100
xref: ORDO:138
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0050835
name: generalized dystonia
def: "A dystonia that affects most or all of the body. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"]
synonym: "fragments of torsion dystonia" EXACT []
synonym: "idiopathic familial dystonia" EXACT []
synonym: "idiopathic non-familial dystonia" EXACT []
synonym: "symptomatic torsion dystonia" EXACT []
xref: ICD10CM:G24.2
xref: ICD9CM:333.6
xref: ICD9CM:333.8
xref: NCI:C34564
xref: NCI:C35437
xref: NCI:C35438
xref: NCI:C35527
is_a: DOID:543 ! dystonia
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:0050836
name: focal dystonia
alt_id: MIM:611284
def: "A dystonia that is localized to a specific part of the body. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"]
synonym: "focal dystonias" EXACT []
synonym: "focal dystonia, task-specific" EXACT []
synonym: "FTSD" EXACT []
synonym: "Musician's Dystonia" EXACT []
synonym: "occupational cramp" EXACT []
synonym: "occupational dystonia" EXACT []
synonym: "task-specific dystonia" EXACT []
xref: GARD:6458
xref: MESH:C566973
is_a: DOID:543 ! dystonia

[Term]
id: DOID:0050837
name: multifocal dystonia
def: "A dystonia that involves two or more unrelated body parts. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"]
xref: RDO:9002844
is_a: DOID:543 ! dystonia
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050838
name: segmental dystonia
def: "A dystonia that affects two or more adjacent parts of the body. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"]
is_a: DOID:543 ! dystonia
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050839
name: anismus
def: "A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation. (DO)" [https://en.wikipedia.org/wiki/Anismus "DO"]
xref: RDO:9003190
is_a: DOID:0050836 ! focal dystonia
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050840
name: cervical dystonia
def: "A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. (DO)" [http://en.wikipedia.org/wiki/Spasmodic_torticollis "DO", http://www.ncbi.nlm.nih.gov/books/NBK1155/ "DO"]
synonym: "intermittent torticollis" EXACT []
synonym: "Psychogenic Torticollis" EXACT []
synonym: "Spasmodic Torticollis" EXACT []
synonym: "Torticollis" EXACT []
synonym: "wryneck" EXACT []
xref: GARD:10668
xref: MESH:D014103
is_a: DOID:0050836 ! focal dystonia

[Term]
id: DOID:0050841
name: focal hand dystonia
def: "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. (DO)" [http://en.wikipedia.org/wiki/Dystonia "DO"]
synonym: "organic writer's cramp" EXACT []
xref: ICD9CM:333.84
is_a: DOID:0050836 ! focal dystonia
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:0050842
name: oculogyric crisis
def: "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. (DO)" [http://en.wikipedia.org/wiki/Oculogyric_crisis "DO"]
xref: RDO:9003198
is_a: DOID:0050836 ! focal dystonia
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050843
name: oromandibular dystonia
def: "A focal dystonia that is characterized by distortions of the mouth and tongue. (DO)" [http://en.wikipedia.org/wiki/Oromandibular_dystonia "DO"]
xref: RDO:9003200
is_a: DOID:0050836 ! focal dystonia
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050844
name: spasmodic dystonia
def: "A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. (DO)" [http://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx "DO"]
synonym: "laryngeal dystonia" EXACT []
is_a: DOID:0050836 ! focal dystonia
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050845
name: cranio-facial dystonia
def: "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"]
xref: RDO:9003204
is_a: DOID:0050836 ! focal dystonia
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050846
name: hemidystonia
def: "A multifocal dystonia that involves the arm and leg on the same side of the body. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"]
is_a: DOID:0050837 ! multifocal dystonia
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050847
name: sleep apnea
def: "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. (DO)" [http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/ "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/ "DO"]
synonym: "hypersomnia with periodic respiration" EXACT []
synonym: "sleep apneas" EXACT []
synonym: "sleep apnea syndrome" EXACT []
synonym: "sleep disordered breathing" EXACT []
synonym: "sleep hypopnea" EXACT []
xref: EFO:0003877
xref: ICD9CM:780.57
xref: MESH:D012891
xref: NCI:C26884
is_a: DOID:9000166 ! Intrinsic Sleep Disorders
is_a: DOID:9004992 ! Apnea

[Term]
id: DOID:0050848
name: obstructive sleep apnea
alt_id: MIM:107650
def: "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. (DO)" [http://en.wikipedia.org/wiki/Obstructive_sleep_apnea "DO", http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000811.htm "DO", https://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1 "DO"]
synonym: "obstructive sleep apneas" EXACT []
synonym: "obstructive sleep apnea syndrome" EXACT []
synonym: "OSAHS" EXACT []
synonym: "Sleep Apnea Hypopnea Syndrome" EXACT []
synonym: "upper airway resistance sleep apnea syndrome" EXACT []
xref: EFO:0003918
xref: ICD10CM:G47.33
xref: ICD9CM:327.23
xref: MESH:D020181
xref: NCI:C116337
xref: NCI:C27168
is_a: DOID:0050847 ! sleep apnea

[Term]
id: DOID:0050849
name: periampullary adenoma
def: "An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244941/ "DO"]
synonym: "periampullary adenoma, somatic" EXACT []
is_a: DOID:10022 ! ampulla of Vater benign neoplasm
is_a: DOID:657 ! adenoma
created_by: slaulederkind
creation_date: 2010-03-19T00:00:00Z

[Term]
id: DOID:0050850
name: diabetic encephalopathy
def: "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. (DO)" [http://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20798963 "DO"]
synonym: "diabetic encephalopathies" EXACT []
is_a: DOID:9002661 ! Diabetes Complications
is_a: DOID:936 ! brain disease

[Term]
id: DOID:0050851
name: glomerulosclerosis
def: "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. (DO)" [http://en.wikipedia.org/wiki/Glomerulosclerosis "DO"]
is_a: DOID:0050855 ! renal fibrosis
is_a: DOID:2921 ! glomerulonephritis

[Term]
id: DOID:0050852
name: limb ischemia
def: "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply. (DO)" [https://en.wikipedia.org/wiki/Ischemia "DO"]
is_a: DOID:326 ! ischemia

[Term]
id: DOID:0050853
name: chronic venous insufficiency
def: "A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins. (DO)" [https://en.wikipedia.org/wiki/Chronic_venous_insufficiency "DO"]
synonym: "Chronic Venous Disease" EXACT []
synonym: "Chronic Venous Insufficiencies" EXACT []
xref: EFO:0007940
xref: RDO:9000012
is_a: DOID:10128 ! venous insufficiency

[Term]
id: DOID:0050854
name: Muckle-Wells syndrome
def: "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11687797 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11992256 "DO"]
synonym: "CAPS2" EXACT []
synonym: "cryopyrin-associated periodic syndrome 2" EXACT []
synonym: "MWS" EXACT []
synonym: "neutrophilic urticaria" EXACT []
synonym: "UDA syndrome" EXACT []
synonym: "urticaria-deafness-amyloidosis syndrome" EXACT []
xref: GARD:8472
xref: ICD10CM:M04.2
xref: MIM:191900
xref: NCI:C119054
xref: ORDO:575
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1555 ! urticaria
is_a: DOID:9008464 ! Cryopyrin-Associated Periodic Syndromes
is_a: DOID:9008681 ! Deafness
is_a: DOID:9120 ! amyloidosis

[Term]
id: DOID:0050855
name: renal fibrosis
def: "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776335/ "DO"]
synonym: "kidney fibrosis" EXACT []
xref: EFO:1001517
is_a: DOID:557 ! kidney disease
is_a: DOID:9000784 ! Fibrosis

[Term]
id: DOID:0050856
name: oppositional defiant disorder
def: "A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents. (DO)" [https://en.wikipedia.org/wiki/Oppositional_defiant_disorder "DO"]
is_a: DOID:0060038 ! specific developmental disorder
is_a: DOID:9009161 ! Attention Deficit and Disruptive Behavior Disorders

[Term]
id: DOID:0050857
name: Perrault syndrome
def: "A syndrome that is characterized by sensorineural hearing loss and ovarian failure. (DO)" [http://ghr.nlm.nih.gov/gene/LARS2 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23541340 "DO"]
xref: GARD:2542
xref: MIM:PS233400
xref: ORDO:2855
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14447 ! gonadal dysgenesis
is_a: DOID:225 ! syndrome
is_a: DOID:9008681 ! Deafness
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:0050858
name: Marshall-Smith syndrome
alt_id: MIM:602535
def: "A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. (DO)" [http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome "DO", http://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1 "DO"]
synonym: "MRSHSS" EXACT []
synonym: "NFIX-RELATED CONDITION" BROAD []
xref: GARD:6985
xref: MESH:C536026
xref: ORDO:561
is_a: DOID:0060857 ! septooptic dysplasia
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0050859
name: hemorrhagic cystitis
def: "A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract. (DO)" [https://en.wikipedia.org/wiki/Hemorrhagic_cystitis "DO"]
is_a: DOID:1679 ! cystitis

[Term]
id: DOID:0050860
name: colorectal adenoma
def: "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. (DO)" [https://en.wikipedia.org/wiki/Colorectal_adenoma "DO"]
synonym: "colonic adenoma recurrence, reduced risk of" RELATED []
synonym: "Colorectal Sessile Serrated Adenoma/Polyp" NARROW []
xref: EFO:0005406
xref: EFO:1000197
xref: NCI:C5673
is_a: DOID:4610 ! intestinal benign neoplasm
is_a: DOID:657 ! adenoma
is_a: DOID:9008443 ! Colorectal Neoplasms

[Term]
id: DOID:0050861
name: colorectal adenocarcinoma
def: "A colorectal carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma "DO", http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "colorectal mucinous adenocarcinoma" NARROW []
synonym: "colorectal serrated adenocarcinoma" NARROW []
xref: EFO:0000365
xref: EFO:0009361
xref: EFO:1000196
xref: NCI:C5105
is_a: DOID:0080199 ! colorectal carcinoma
is_a: DOID:299 ! adenocarcinoma

[Term]
id: DOID:0050862
name: pyometritis
def: "A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16284801 "DO"]
is_a: DOID:345 ! uterine disease
is_a: DOID:9005889 ! Suppuration

[Term]
id: DOID:0050863
name: arteritic anterior ischemic optic neuropathy
def: "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis. (DO)" [https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy "DO"]
is_a: DOID:12010 ! anterior ischemic optic neuropathy
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:0050864
name: non-arteritic anterior ischemic optic neuropathy
def: "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721361/ "DO"]
synonym: "AION" BROAD []
synonym: "anterior ischemic optic neuropathy, susceptibility to" RELATED []
synonym: "NAION" EXACT []
synonym: "NAION, SUSCEPTIBILITY TO" RELATED []
synonym: "non-arteritic AION" EXACT []
synonym: "non-arteritic anterior ischaemic optic neuropathy" EXACT []
synonym: "nonarteritic anterior ischaemic optic neuropathy" EXACT []
synonym: "nonarteritic anterior ischemic optic neuropathy" EXACT []
synonym: "nonarteritic anterior ischemic optic neuropathy, susceptibility to" RELATED []
xref: MIM:258660
is_a: DOID:12010 ! anterior ischemic optic neuropathy

[Term]
id: DOID:0050865
name: tongue squamous cell carcinoma
def: "A head and neck squamous cell carcinoma that is located_in the tongue. (DO)" [http://en.wikipedia.org/wiki/Squamous_cell_carcinoma "DO"]
synonym: "SCCT" EXACT []
xref: EFO:1000055
xref: NCI:C4648
xref: RDO:9000054
is_a: DOID:5520 ! head and neck squamous cell carcinoma
is_a: DOID:8649 ! tongue cancer

[Term]
id: DOID:0050866
name: oral squamous cell carcinoma
def: "An oral cavity cancer that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"]
synonym: "mouth squamous cell carcinoma" EXACT []
synonym: "OSCC" EXACT []
xref: EFO:0000199
xref: GARD:7263
xref: NCI:C132823
is_a: DOID:8618 ! oral cavity cancer
is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma

[Term]
id: DOID:0050868
name: hepatocellular adenoma
def: "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. (DO)" [https://en.wikipedia.org/wiki/Hepatocellular_adenoma "DO"]
synonym: "Benign Hepatoma" EXACT []
synonym: "benign hepatomas" EXACT []
synonym: "hepatocellular adenomas" EXACT []
synonym: "liver cell adenoma" EXACT []
synonym: "liver cell adenomas" EXACT []
xref: EFO:0000762
xref: MESH:D018248
is_a: DOID:657 ! adenoma
is_a: DOID:916 ! liver benign neoplasm

[Term]
id: DOID:0050869
name: villous adenoma
def: "An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/villous-adenoma "DO"]
synonym: "villous adenomas" EXACT []
xref: ICDO:8261/0
xref: MESH:D018253
is_a: DOID:657 ! adenoma

[Term]
id: DOID:0050870
name: pulmonary adenocarcinoma in situ
def: "A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. (DO)" [http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma "DO"]
is_a: DOID:3910 ! lung adenocarcinoma
is_a: DOID:8800 ! lung carcinoma in situ
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:0050871
name: fibroma
def: "A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. (DO)" [https://en.wikipedia.org/wiki/Fibroma "DO"]
synonym: "fibromas" EXACT []
synonym: "fibromatoses" EXACT []
synonym: "fibromatosis" EXACT []
synonym: "Fibromyxoma" EXACT []
synonym: "fibromyxomas" EXACT []
synonym: "myxofibroma" EXACT []
synonym: "myxofibromas" EXACT []
synonym: "Superficial Fibromatosis" NARROW []
xref: EFO:0000497
xref: EFO:0002424
xref: EFO:1000148
xref: EFO:1000556
xref: ICDO:8810/0
xref: MESH:D005350
is_a: DOID:0060123 ! connective tissue benign neoplasm
is_a: DOID:9008446 ! Fibrous Tissue Neoplasms

[Term]
id: DOID:0050872
name: large cell neuroendocrine carcinoma
def: "A lung large cell carcinoma that derives_from neuroendocrine cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15999058 "DO"]
xref: EFO:0000563
xref: ICDO:8013/3
is_a: DOID:4552 ! large cell carcinoma
is_a: DOID:4556 ! lung large cell carcinoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:0050873
name: follicular lymphoma
alt_id: MIM:613024
def: "A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). (DO)" [http://en.wikipedia.org/wiki/Follicular_lymphoma "DO", http://www.cancer.gov/dictionary?CdrID=428287 "DO"]
synonym: "Brill Symmers Disease" EXACT []
synonym: "Cutaneous Follicular Lymphoma" NARROW []
synonym: "FL1" EXACT []
synonym: "Follicular Large Cell Lymphoma" EXACT []
synonym: "follicular large-cell lymphomas" EXACT []
synonym: "Follicular Lymphoma, Grade 1" EXACT []
synonym: "Follicular Lymphoma, Grade 2" EXACT []
synonym: "Follicular Lymphoma, Grade 3" EXACT []
synonym: "Follicular Lymphomas" EXACT []
synonym: "Follicular Lymphoma, Somatic" EXACT []
synonym: "FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1" RELATED []
synonym: "Follicular Mixed Cell Lymphoma" EXACT []
synonym: "Follicular Mixed-Cell Lymphomas" EXACT []
synonym: "follicular small cleaved cell lymphoma" EXACT []
synonym: "Giant Follicular Lymphoma" EXACT []
synonym: "Giant Follicular Lymphomas" EXACT []
synonym: "Large Lymphoid Lymphoma, Nodular" EXACT []
synonym: "Lymphocytic Lymphoma, Nodular, Poorly Differentiated" EXACT []
synonym: "Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic" EXACT []
synonym: "Lymphoma, Follicular, Mixed Small and Large Lymphoid" EXACT []
synonym: "Lymphoma, Follicular, Small and Large Cleaved Cell" EXACT []
synonym: "Lymphoma, Nodular, Mixed Lymphocytic Histiocytic" EXACT []
synonym: "Lymphoma, Nodular, Mixed Small and Large Cell" EXACT []
synonym: "Lymphoma, Small Lymphoid, Follicular" EXACT []
synonym: "Nodular Histiocytic Lymphoma" EXACT []
synonym: "Nodular Histiocytic Lymphomas" EXACT []
synonym: "Nodular Large Follicular Center Cell Lymphoma" EXACT []
synonym: "Nodular Lymphoma" EXACT []
synonym: "Nodular Lymphomas" EXACT []
synonym: "small follicular center cell lymphoma" EXACT []
xref: EFO:1000211
xref: GARD:2356
xref: ICDO:9690/3
xref: MESH:D008224
xref: MONDO:0018906
xref: NCI:C3209
xref: NCI:C3465
is_a: DOID:0060060 ! non-Hodgkin lymphoma
is_a: DOID:707 ! B-cell lymphoma

[Term]
id: DOID:0050876
name: Caroli disease
def: "A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. (DO)" [http://en.wikipedia.org/wiki/Caroli_disease "DO", http://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract "DO"]
synonym: "Caroli's disease" EXACT []
synonym: "Carolis Disease" EXACT []
xref: EFO:1001286
xref: GARD:6002
xref: MESH:D016767
xref: MONDO:0010913
xref: NCI:C84619
is_a: DOID:0060340 ! ciliopathy
is_a: DOID:899 ! choledochal cyst

[Term]
id: DOID:0050877
name: pancreatic agenesis
alt_id: MIM:PS260370
def: "A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf "DO"]
synonym: "congenital pancreatic agenesis" EXACT []
synonym: "congenital pancreatic hypoplasia" EXACT []
synonym: "PAGEN" EXACT []
synonym: "PANCREATIC HYPOPLASIA" EXACT []
synonym: "partial pancreatic agenesis" EXACT []
xref: GARD:4203
xref: MESH:C564908
xref: ORDO:2805
is_a: DOID:26 ! pancreas disease

[Term]
id: DOID:0050879
name: fragile X-associated tremor/ataxia syndrome
alt_id: MIM:300623
def: "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. (DO)" [http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome "DO", http://omim.org/entry/300623 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18195136 "DO"]
synonym: "Fragile X Tremor Ataxia Syndrome" EXACT []
synonym: "FXTAS" EXACT []
synonym: "FXTAS syndrome" EXACT []
xref: MESH:C564105
xref: NCI:C126566
xref: ORDO:93256
is_a: DOID:0050953 ! X-linked hereditary ataxia
is_a: DOID:14261 ! fragile X syndrome
is_a: DOID:9000495 ! Tremor

[Term]
id: DOID:0050880
name: Koolen de Vries syndrome
alt_id: DOID:0070076
alt_id: MIM:610443
alt_id: RDO:0014820
def: "A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. (DO)" [http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome "DO", http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome "DO", http://omim.org/entry/610443 "DO", http://www.17q21.com/en/ "DO", http://www.ncbi.nlm.nih.gov/books/NBK24676/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19447831 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22544363 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22544367 "DO"]
synonym: "17q21.31 deletion syndrome" EXACT []
synonym: "17q21.31 microdeletion syndrome" EXACT []
synonym: "Chromosome 17q21.31 Deletion Syndrome" EXACT []
synonym: "Chromosome 17q21.31 Microdeletion Syndrome" EXACT []
synonym: "KANSL1-RELATED CONDITION" EXACT []
synonym: "KANSL1-related intellectual disability syndrome" EXACT []
synonym: "KDVS" EXACT []
synonym: "Koolen syndrome" EXACT []
synonym: "monosomy 17q21.31" EXACT []
xref: GARD:10727
xref: MESH:C566476
xref: ORDO:96169
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0050881
name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia
def: "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. (DO)" [http://omim.org/entry/167320 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19380227 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21304887 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21892620 "DO"]
synonym: "IBMPFD" EXACT []
synonym: "INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA" EXACT []
synonym: "inclusion body myopathy with early-onset Paget disease of bone and-or frontotemporal dementia" EXACT []
synonym: "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia" EXACT []
synonym: "Inclusion Body Myopathy with Paget Disease of Bone and-or Frontotemporal Dementia" EXACT []
synonym: "Lower Motor Neuron Degeneration With Paget-Like Bone Disease" EXACT []
synonym: "Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone" EXACT []
synonym: "Pagetoid Amyotrophic Lateral Sclerosis" EXACT []
synonym: "pagetoid neuroskeletal syndrome" EXACT []
xref: MESH:C563476
xref: MIM:PS167320
xref: ORDO:52430
is_a: DOID:11724 ! limb-girdle muscular dystrophy
is_a: DOID:225 ! syndrome
is_a: DOID:3429 ! inclusion body myositis
is_a: DOID:5408 ! Paget's disease of bone
is_a: DOID:9255 ! frontotemporal dementia

[Term]
id: DOID:0050882
name: spinocerebellar ataxia type 5
def: "An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. (DO)" [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20368622 "DO"]
synonym: "SCA5" EXACT []
synonym: "spinocerebellar ataxia 5" EXACT []
synonym: "SPTBN2-RELATED CONDITION" BROAD []
xref: GARD:4953
xref: MIM:600224
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0050883
name: infantile cerebellar-retinal degeneration
def: "A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (DO)" [http://omim.org/entry/614559 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 "DO", http://www.uniprot.org/diseases/DI-03409 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22405087 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23438437 "DO"]
synonym: "ACO2-RELATED CONDITION" BROAD []
synonym: "ACO2-RELATED DISORDER" BROAD []
synonym: "ICRD" EXACT []
xref: GARD:13264
xref: MIM:614559
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5723 ! optic atrophy
is_a: DOID:8466 ! retinal degeneration
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9008739 ! Athetosis
is_a: DOID:9277 ! primary cerebellar degeneration

[Term]
id: DOID:0050884
name: triosephosphate isomerase deficiency
alt_id: MIM:615512
def: "A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. (DO)" [http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency "DO", http://omim.org/entry/615512 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport "DO", https://www.ncbi.nlm.nih.gov/pubmed/16980388 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17424909 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23318931 "DO"]
synonym: "TPID" EXACT []
synonym: "TPI-Hungary" RELATED []
synonym: "triose phosphate-isomerase deficiency" EXACT []
xref: GARD:5287
xref: MESH:C566029
xref: NCI:C131652
is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia
is_a: DOID:4194 ! glucose metabolism disease

[Term]
id: DOID:0050885
name: IMAGe syndrome
alt_id: MIM:202155
alt_id: MIM:614732
def: "A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. (DO)" [http://omim.org/entry/614732 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14760276 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22634751 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23719190 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24065356 "DO"]
synonym: "Adrenal Hypoplasia, Cytomegalic Type" EXACT []
synonym: "IMAGE" EXACT []
synonym: "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" EXACT []
synonym: "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" EXACT []
xref: GARD:12312
xref: MESH:C564543
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9002231 ! Fetal Growth Retardation
is_a: DOID:9008622 ! Adrenal Insufficiency

[Term]
id: DOID:0050886
name: Troyer syndrome
alt_id: MIM:275900
def: "A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. (DO)" [http://en.wikipedia.org/wiki/SPG20 "DO", http://ghr.nlm.nih.gov/condition/troyer-syndrome "DO", http://ghr.nlm.nih.gov/gene/SPG20 "DO", http://omim.org/entry/275900 "DO", http://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301556 "DO"]
synonym: "autosomal recessive spastic paraplegia 20" EXACT []
synonym: "autosomal recessive spastic paraplegia Troyer type" EXACT []
synonym: "autosomal recessive spastic paraplegia type 20" EXACT []
synonym: "childhood-onset spastic paraparesis with distal muscle wasting" EXACT []
synonym: "Cross-McKusick syndrome" EXACT []
synonym: "hereditary spastic paraplegia 20" EXACT []
synonym: "SPART-RELATED CONDITION" EXACT []
synonym: "spastic paraplegia 20" EXACT []
synonym: "spastic paraplegia type 20" EXACT []
synonym: "spastic paraplegia with distal muscle wasting" EXACT []
synonym: "SPG20" EXACT []
xref: GARD:5372
xref: MESH:C536858
xref: ORDO:101000
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0050887
name: Townes-Brocks syndrome
alt_id: MIM:107480
def: "A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. (DO)" [http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome "DO", http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome "DO", http://www.omim.org/entry/107480 "DO", http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple "DO", https://www.ncbi.nlm.nih.gov/pubmed/12925729 "DO"]
synonym: "anal-ear-renal-radial malformation syndrome" EXACT []
synonym: "Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome" EXACT []
synonym: "imperforate anus-hand and foot anomalies syndrome" EXACT []
synonym: "imperforate anus with hand, foot, and ear anomalies" EXACT []
synonym: "REAR syndrome" EXACT []
synonym: "renal-ear-anal-radial syndrome" EXACT []
synonym: "renal-ear-anal-radial syndrome (rear)" EXACT []
synonym: "SALL1-RELATED CONDITION" EXACT []
synonym: "sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome" EXACT []
synonym: "sensorineural deafness with imperforate anus and hypoplastic thumbs" EXACT []
synonym: "sensorineural deafness with imperforate anus and thumb anomalies" EXACT []
synonym: "TBS1" EXACT []
synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED []
synonym: "Townes-Brocks syndrome 1" EXACT []
synonym: "Townes Syndrome" EXACT []
xref: GARD:7784
xref: MESH:C536974
xref: MIM:PS107480
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10488 ! imperforate anus
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0050888
name: syndromic intellectual disability
def: "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. (DO)" [http://en.wikipedia.org/wiki/Intellectual_disability "DO"]
is_a: DOID:1059 ! intellectual disability
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050889
name: non-syndromic intellectual disability
def: "An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. (DO)" [http://en.wikipedia.org/wiki/Intellectual_disability "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/ "DO"]
is_a: DOID:1059 ! intellectual disability
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0050890
name: synucleinopathy
def: "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. (DO)" [http://en.wikipedia.org/wiki/Synucleinopathies "DO"]
synonym: "α-synucleinopathy" EXACT []
synonym: "alpha synucleinopathies" EXACT []
synonym: "alpha-synucleinopathy" EXACT []
synonym: "alpha synuclein pathologies" EXACT []
synonym: "alpha synuclein pathology" EXACT []
synonym: "a-synucleinopathies" EXACT []
synonym: "a-synucleinopathy" EXACT []
synonym: "synucleinopathies" EXACT []
xref: MESH:D000080874
xref: MONDO:0000510
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:9000842 ! Proteostasis Deficiencies
created_by: rgd
creation_date: 2017-07-13T00:00:00Z

[Term]
id: DOID:0050891
name: adrenal cortical adenoma
def: "An adrenal adenoma that is a benign tumor of the adrenal cortex. (DO)" [http://en.wikipedia.org/wiki/Adrenocortical_adenoma "DO"]
synonym: "adrenal cortical adenomas" EXACT []
synonym: "adrenocortical adenoma" EXACT []
synonym: "adrenocortical adenomas" EXACT []
synonym: "Aldosterone Producing Adrenal Cortex Adenoma" NARROW []
synonym: "Conn's disease" EXACT []
synonym: "Conn Adenoma" EXACT []
synonym: "Conn adenomas" EXACT []
synonym: "Conn disease" EXACT []
synonym: "Conns disease" EXACT []
synonym: "Cortisol-Producing Adrenal Cortex Adenoma" NARROW []
synonym: "Non-Functioning Adrenal Cortex Adenoma" NARROW []
synonym: "Sex Hormone-Producing Adrenal Cortex Adenoma" NARROW []
xref: EFO:0003104
xref: EFO:1000208
xref: EFO:1000399
xref: EFO:1000523
xref: ICDO:8370/0
xref: MESH:D018246
xref: NCI:C9003
is_a: DOID:656 ! adrenal adenoma
is_a: DOID:9005582 ! Adrenal Cortex Neoplasms

[Term]
id: DOID:0050892
name: adrenal gland pheochromocytoma
def: "A malignant pheochromocytoma that is characterized by overproduction of adrenaline. (DO)" [http://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma "DO", http://en.wikipedia.org/wiki/Pheochromocytoma "DO", http://www.cancer.gov/cancertopics/types/pheochromocytoma "DO"]
synonym: "Malignant Adrenal Gland Pheochromocytoma" EXACT []
xref: EFO:0000239
xref: EFO:1000348
xref: NCI:C121568
xref: NCI:C134960
xref: NCI:C3326
is_a: DOID:0080347 ! malignant pheochromocytoma
created_by: rgd
creation_date: 2017-02-06T17:14:16Z

[Term]
id: DOID:0050893
name: gallbladder adenoma
def: "A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"]
xref: EFO:1000263
is_a: DOID:0050625 ! biliary tract benign neoplasm
is_a: DOID:0080640 ! gallbladder benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050894
name: ameloblastoma
def: "A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. (DO)" [http://en.wikipedia.org/wiki/Ameloblastoma "DO"]
synonym: "ameloblastomas" EXACT []
synonym: "plexiform ameloblastoma" NARROW []
xref: EFO:1000487
xref: GARD:5747
xref: ICDO:9310/0
xref: MESH:D000564
xref: MONDO:0017795
xref: NCI:C4313
xref: ORDO:314419
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:0060099 ! musculoskeletal system benign neoplasm
is_a: DOID:9006134 ! Odontogenic Tumors
is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms

[Term]
id: DOID:0050895
name: bone ameloblastoma
def: "A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. (DO)" [http://en.wikipedia.org/wiki/Ameloblastoma "DO"]
is_a: DOID:0060094 ! bone benign neoplasm

[Term]
id: DOID:0050896
name: bone squamous cell carcinoma
def: "A bone carcinoma that derives_from squamous epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"]
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:2762 ! bone carcinoma

[Term]
id: DOID:0050897
name: bone chondrosarcoma
def: "A chondrosarcoma that is located_in bone. (DO)" [http://en.wikipedia.org/wiki/Chondrosarcoma "DO"]
xref: EFO:0010832
is_a: DOID:3371 ! chondrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0050898
name: phalanx chondroma
def: "A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. (DO)" [http://en.wikipedia.org/wiki/Chondroma "DO"]
xref: RDO:9004367
is_a: DOID:0060094 ! bone benign neoplasm
is_a: DOID:2602 ! chondroma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050899
name: brain stem medulloblastoma
def: "A brain stem cancer that begins in the lower part of the brain on the floor of the skull. (DO)" [http://en.wikipedia.org/wiki/Medulloblastoma "DO"]
is_a: DOID:0050902 ! medulloblastoma
is_a: DOID:4203 ! brain stem cancer
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050900
name: sacrum chordoma
def: "A spinal chordoma that is located_in the sacrum. (DO)" [http://en.wikipedia.org/wiki/Sacrum "DO", http://www.cancer.gov/dictionary?CdrID=45297 "DO"]
synonym: "sacral chordoma" EXACT []
xref: NCI:C129927
is_a: DOID:4153 ! spinal chordoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0050901
name: corpus callosum oligodendroglioma
def: "A brain oligodendroglioma located_in the corpus callosum. (DO)" [http://en.wikipedia.org/wiki/Corpus_callosum "DO", http://en.wikipedia.org/wiki/Oligodendroglioma "DO", http://www.cancer.gov/dictionary?CdrID=46257 "DO"]
is_a: DOID:3187 ! brain oligodendroglioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0050902
name: medulloblastoma
alt_id: MIM:155255
def: "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. (DO)" [http://en.wikipedia.org/wiki/Medulloblastoma "DO", http://www.cancer.gov/dictionary?CdrID=45780 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/ "DO"]
synonym: "brain medulloblastoma" EXACT []
synonym: "circumscribed arachnoidal cerebellar sarcoma" EXACT []
synonym: "CLASSIC MEDULLOBLASTOMA" NARROW []
synonym: "CNS PNET" EXACT []
synonym: "CPNET" EXACT []
synonym: "desmoplastic medulloblastoma" EXACT []
synonym: "desmoplastic medulloblastomas" EXACT []
synonym: "infratentorial primitive neuroectodermal tumor" EXACT []
synonym: "localized primitive neuroectodermal tumor" EXACT []
synonym: "MBEN" NARROW []
synonym: "MDB" EXACT []
synonym: "Medulloblastoma, histologically defined" EXACT []
synonym: "medulloblastoma predisposition syndrome" EXACT []
synonym: "medulloblastomas" EXACT []
synonym: "medulloblastoma, somatic" NARROW []
synonym: "medulloblastoma with extensive nodularity" NARROW []
synonym: "melanocytic medulloblastoma" EXACT []
synonym: "melanocytic medulloblastomas" EXACT []
synonym: "PTCH2-RELATED CONDITION" BROAD []
xref: EFO:0002939
xref: GARD:7005
xref: ICDO:9470/3
xref: MESH:D008527
xref: NCI:C27294
xref: NCI:C3222
xref: NCI:C3716
xref: ORDO:616
is_a: DOID:4706 ! infratentorial cancer
is_a: DOID:9002904 ! Primitive Neuroectodermal Tumors

[Term]
id: DOID:0050903
name: parietal lobe ependymoma
def: "A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. (DO)" [http://www.cancer.gov/dictionary?CdrID=46432 "DO"]
is_a: DOID:14384 ! parietal lobe neoplasm
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:0050904
name: salivary gland carcinoma
def: "A salivary gland cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Salivary_gland_neoplasm "DO", http://www.cancer.gov/dictionary?CdrID=45963 "DO"]
synonym: "Major Salivary Gland Carcinoma" NARROW []
synonym: "Minor Salivary Gland Adenocarcinoma" NARROW []
synonym: "Salivary Gland Adenosquamous Carcinoma" NARROW []
synonym: "Salivary Gland Basal Cell Adenocarcinoma" NARROW []
synonym: "Salivary Gland Large Cell Carcinoma" NARROW []
synonym: "salivary gland squamous cell carcinoma" NARROW []
xref: EFO:1000344
xref: EFO:1000379
xref: EFO:1000514
xref: EFO:1000516
xref: EFO:1000517
xref: EFO:1001967
is_a: DOID:305 ! carcinoma
is_a: DOID:8850 ! salivary gland cancer
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:0050905
name: inflammatory myofibroblastic tumor
def: "A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23091756 "DO"]
synonym: "Bladder Inflammatory Myofibroblastic Tumor" NARROW []
synonym: "Lung Inflammatory Myofibroblastic Tumor" NARROW []
synonym: "myofibroblastic tumor" EXACT []
synonym: "Retroperitoneal Inflammatory Myofibroblastic Tumor" NARROW []
xref: EFO:1000127
xref: EFO:1000333
xref: EFO:1000510
xref: GARD:7146
is_a: DOID:3350 ! mesenchymal cell neoplasm

[Term]
id: DOID:0050906
name: conjunctival nevus
def: "A sensory organ benign neoplasm that is located in the eye conjunctiva. (DO)" [http://en.wikipedia.org/wiki/Conjunctiva "DO", http://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors "DO"]
xref: EFO:1000205
xref: RDO:9002409
is_a: DOID:0060096 ! sensory organ benign neoplasm
is_a: DOID:9008245 ! Conjunctival Neoplasms
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0050907
name: mixed extragonadal germ cell cancer
def: "A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. (DO)" [http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed "DO", http://www.cancer.gov/dictionary?CdrID=444993 "DO"]
xref: MONDO:0000524
is_a: DOID:3306 ! mixed germ cell cancer
is_a: DOID:4717 ! extragonadal germ cell cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050908
name: myelodysplastic syndrome
alt_id: MIM:614286
def: "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. (DO)" [http://en.wikipedia.org/wiki/Myelodysplastic_syndrome "DO", http://www.cancer.gov/dictionary?CdrID=45266 "DO"]
synonym: "ASXL1-RELATED CONDITION" BROAD []
synonym: "dysmyelopoietic syndrome" EXACT []
synonym: "dysmyelopoietic syndromes" EXACT []
synonym: "hematopoetic myelodysplasia" EXACT []
synonym: "hematopoetic myelodysplasias" EXACT []
synonym: "MDS" EXACT []
synonym: "myelodysplasia" NARROW []
synonym: "myelodysplastic syndrome progressed to acute myeloid leukemia" NARROW []
synonym: "myelodysplastic syndromes" EXACT []
synonym: "myelodysplastic syndrome, susceptibility to" RELATED []
synonym: "TET2-RELATED CONDITION" BROAD []
xref: EFO:0000198
xref: GARD:7132
xref: ICDO:9989/3
xref: MESH:D009190
xref: NCI:C3247
is_a: DOID:225 ! syndrome
is_a: DOID:4960 ! bone marrow cancer

[Term]
id: DOID:0050909
name: extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
def: "A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. (DO)" [http://www.cancer.gov/dictionary?CdrID=45774 "DO", http://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt "DO"]
synonym: "Breast Mucosa-Associated Lymphoid Tissue Lymphoma" NARROW []
synonym: "LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE" EXACT []
synonym: "Lymphoma of Mucosa Associated Lymphoid Tissue" EXACT []
synonym: "MALT lymphoma" EXACT []
synonym: "MALT lymphoma of the dura" EXACT []
synonym: "mucosa associated lymphoid tissue lymphoma" EXACT []
synonym: "Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma" NARROW []
synonym: "Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma" NARROW []
xref: EFO:0000191
xref: EFO:1000146
xref: EFO:1000537
xref: EFO:1000591
xref: ICDO:9699/3
xref: MIM:137245
xref: NCI:C3898
is_a: DOID:0050748 ! marginal zone lymphoma
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:0050910
name: cecum adenoma
def: "A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"]
synonym: "caecum adenoma" EXACT []
synonym: "Cecum Villous Adenoma" NARROW []
xref: EFO:1000155
is_a: DOID:1517 ! cecal benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050911
name: appendix carcinoid tumor
def: "An appendix cancer that has_material_basis_in neurodendocrine cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoid "DO", http://www.cancer.gov/dictionary?CdrID=44233 "DO"]
synonym: "appendix carcinoid endocrine tumour" EXACT []
synonym: "Appendix Goblet Cell Carcinoid" NARROW []
synonym: "Appendix Neuroendocrine Tumor G1" NARROW []
xref: EFO:1000090
xref: EFO:1000092
is_a: DOID:11239 ! appendix cancer

[Term]
id: DOID:0050912
name: colon adenoma
def: "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)" [http://en.wikipedia.org/wiki/Colorectal_adenoma "DO", http://www.cancer.gov/dictionary?CdrID=46217 "DO"]
is_a: DOID:235 ! colonic benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:0050913
name: large intestine adenocarcinoma
def: "A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. (DO)" [http://www.cancer.gov/dictionary?CdrID=46216 "DO"]
xref: EFO:0000365
xref: RDO:9001839
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:5672 ! large intestine cancer
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:0050914
name: large intestine adenoma
def: "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"]
xref: EFO:0005406
is_a: DOID:4610 ! intestinal benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050915
name: rectal adenoma
def: "An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"]
synonym: "rectal traditional serrated adenoma" NARROW []
synonym: "rectal tubular adenoma" NARROW []
synonym: "Rectal Tubulovillous Adenoma" NARROW []
synonym: "rectal villous adenoma" NARROW []
synonym: "rectum adenoma" EXACT []
xref: EFO:1000503
xref: EFO:1000504
xref: EFO:1000505
xref: EFO:1000506
xref: NCI:C5546
is_a: DOID:1984 ! rectal benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050916
name: bronchus mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma located_in the bronchus. (DO)" [http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma "DO"]
is_a: DOID:3904 ! bronchus carcinoma
is_a: DOID:4531 ! mucoepidermoid carcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050917
name: lung combined type small cell adenocarcinoma
def: "A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma "DO", http://www.cancer.gov/dictionary?CdrID=45327 "DO", http://www.cancer.gov/dictionary?CdrID=46216 "DO"]
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:5421 ! lung combined type small cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050918
name: vaginal carcinoma
def: "A vaginal cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "Vaginal Adenoid Cystic Carcinoma" NARROW []
synonym: "Vaginal Squamous Cell Carcinoma" NARROW []
xref: EFO:1000617
xref: EFO:1000620
is_a: DOID:119 ! vaginal cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0050919
name: trachea mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma located_in the trachea. (DO)" [http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma "DO"]
is_a: DOID:4531 ! mucoepidermoid carcinoma
is_a: DOID:4876 ! trachea carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:0050920
name: tonsil squamous cell carcinoma
def: "A tonsil cancer that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"]
xref: EFO:1000597
xref: RDO:9002338
is_a: DOID:0050921 ! pharynx squamous cell carcinoma
is_a: DOID:8858 ! tonsil cancer
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:0050921
name: pharynx squamous cell carcinoma
def: "A pharynx cancer that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"]
synonym: "pharyngeal squamous cell carcinoma" EXACT []
xref: EFO:1001965
xref: NCI:C102872
xref: RDO:9002336
is_a: DOID:0060119 ! pharynx cancer
is_a: DOID:1749 ! squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:0050922
name: gastrointestinal carcinoma
def: "A gastrointestinal system cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
xref: EFO:1000218
xref: RDO:9004722
is_a: DOID:305 ! carcinoma
is_a: DOID:3119 ! gastrointestinal system cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:0050923
name: spindle epithelial tumor with thymus-like differentiation tumor
def: "A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. (DO)" [http://www.pathologyoutlines.com/topic/thyroidsettle.html "DO", http://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext "DO", https://www.ncbi.nlm.nih.gov/pubmed/19417583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2050369 "DO"]
synonym: "SETTLE tumor" EXACT []
synonym: "SETTLE tumour" EXACT []
synonym: "spindle epithelial tumour with thymus-like differentiation tumour" EXACT []
xref: EFO:1000593
is_a: DOID:3963 ! thyroid gland carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050924
name: striated muscle rhabdoid tumor
def: "A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. (DO)" [http://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour "DO", http://www.cancer.gov/dictionary?CdrID=46139 "DO"]
is_a: DOID:4045 ! muscle cancer
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:0050925
name: small intestine carcinoid neuroendocrine tumor
def: "A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. (DO)" [http://en.wikipedia.org/wiki/Carcinoid "DO"]
synonym: "intestinal carcinoid tumour" BROAD []
is_a: DOID:10154 ! small intestine cancer
is_a: DOID:169 ! neuroendocrine tumor
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:0050926
name: jejunal adenocarcinoma
def: "A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
is_a: DOID:13499 ! jejunal cancer
is_a: DOID:299 ! adenocarcinoma

[Term]
id: DOID:0050927
name: duodenum adenoma
def: "A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"]
synonym: "Duodenal Villous Adenoma" NARROW []
xref: EFO:1000225
is_a: DOID:1737 ! duodenal benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0050928
name: ovarian melanoma
def: "An ovarian cancer that has_material_basis_in melanoctyes. (DO)" [http://en.wikipedia.org/wiki/Melanoma "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/15166669 "DO"]
is_a: DOID:2394 ! ovarian cancer
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:0050929
name: mucosal melanoma
def: "A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic "DO"]
xref: NCI:C114828
is_a: DOID:1909 ! melanoma
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:0050930
name: sublingual gland adenoid cystic carcinoma
def: "A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. (DO)" [http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma "DO"]
is_a: DOID:8849 ! sublingual gland cancer

[Term]
id: DOID:0050931
name: parotid gland adenoid cystic carcinoma
def: "A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. (DO)" [http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma "DO", http://en.wikipedia.org/wiki/Parotid_gland "DO"]
xref: EFO:1000459
is_a: DOID:9036 ! parotid gland cancer

[Term]
id: DOID:0050932
name: lung mucoepidermoid carcinoma
def: "A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells. (DO)" [http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma "DO"]
synonym: "pulmonary mucoepidermoid carcinoma" EXACT []
xref: EFO:0006740
xref: EFO:1000038
xref: NCI:C45544
xref: RDO:9001989
is_a: DOID:3905 ! lung carcinoma
is_a: DOID:4531 ! mucoepidermoid carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:0050933
name: ovarian serous carcinoma
def: "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. (DO)" [http://en.wikipedia.org/wiki/Serous_carcinoma "DO"]
xref: EFO:0002917
xref: EFO:1001516
is_a: DOID:4001 ! ovarian carcinoma

[Term]
id: DOID:0050934
name: ovarian clear cell carcinoma
def: "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. (DO)" [http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma "DO"]
is_a: DOID:4001 ! ovarian carcinoma

[Term]
id: DOID:0050935
name: cervical neuroblastoma
def: "An extracranial neuroblastoma that has_material_basis_in immature nerve cells. (DO)" [http://en.wikipedia.org/wiki/Neuroblastoma "DO", http://link.springer.com/article/10.1007%2Fs12070-007-0083-5 "DO", http://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15390353 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9262064 "DO"]
is_a: DOID:371 ! extracranial neuroblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0050936
name: extra-adrenal pheochromocytoma
def: "A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. (DO)" [http://en.wikipedia.org/wiki/Pheochromocytoma "DO"]
synonym: "Malignant Bladder Paraganglioma" NARROW []
xref: EFO:0000489
xref: EFO:1000349
is_a: DOID:0080347 ! malignant pheochromocytoma
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0050937
name: retroperitoneal neuroblastoma
def: "A retroperitoneal cancer that has_material_basis_in immature nerve cells. (DO)" [http://en.wikipedia.org/wiki/Neuroblastoma "DO", http://en.wiktionary.org/wiki/retroperitoneal "DO"]
is_a: DOID:5875 ! retroperitoneal cancer

[Term]
id: DOID:0050938
name: breast lobular carcinoma
def: "A breast carcinoma that derives_from breast lobules (milk glands). (DO)" [http://cancergenome.nih.gov/cancersselected/breastlobular "DO", http://www.cancer.gov/dictionary?CdrID=426416 "DO"]
synonym: "lobular carcinoma" EXACT []
synonym: "lobular carcinoma of breast" EXACT []
synonym: "lobular carcinoma of the breast" EXACT []
synonym: "lobular carcinomas" EXACT []
xref: EFO:0000570
xref: EFO:0008509
xref: ICDO:8520/3
xref: MESH:D018275
xref: NCI:C3771
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:3459 ! breast carcinoma
is_a: DOID:9008490 ! Ductal, Lobular, and Medullary Neoplasms

[Term]
id: DOID:0050939
name: uterine corpus endometrial carcinoma
def: "A uterine corpus cancer that is derives_from the inner lining of the uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165063/ "DO"]
is_a: DOID:2871 ! endometrial carcinoma
is_a: DOID:9460 ! uterine corpus cancer
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:0050940
name: endocervical adenocarcinoma
def: "An endocervical carcinoma that derives_from epithelial cells of glandular origin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12207781 "DO"]
xref: MONDO:0000554
is_a: DOID:3702 ! cervical adenocarcinoma
is_a: DOID:7519 ! endocervical carcinoma
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0050941
name: spastic ataxia 2
alt_id: MIM:611302
def: "A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17273843 "DO"]
synonym: "spastic ataxia 2, autosomal recessive" EXACT []
synonym: "SPAX2" EXACT []
xref: MESH:C566969
xref: NCI:C177252
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050952 ! spastic ataxia
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0050942
name: spastic ataxia 3
alt_id: MIM:611390
def: "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22448145 "DO", https://www.omim.org/entry/611390 "DO"]
synonym: "ARSAL" EXACT []
synonym: "AUTOSOMAL RECESSIVE SPASTIC ATAXIA" EXACT []
synonym: "Autosomal Recessive Spastic Ataxia With Leukoencephalopathy" EXACT []
synonym: "spastic ataxia 3, autosomal recessive" EXACT []
synonym: "SPAX3" EXACT []
xref: MESH:C566956
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050952 ! spastic ataxia
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9002704 ! Leukoencephalopathies

[Term]
id: DOID:0050943
name: spastic ataxia 4
def: "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20970105 "DO", https://www.omim.org/entry/613672 "DO"]
synonym: "MTPAP-RELATED CONDITION" EXACT []
synonym: "spastic ataxia 4, autosomal recessive" EXACT []
synonym: "SPAX4" EXACT []
xref: MIM:613672
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050952 ! spastic ataxia

[Term]
id: DOID:0050944
name: spastic ataxia 5
def: "A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22022284 "DO", https://www.omim.org/entry/614487 "DO"]
synonym: "early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome" EXACT []
synonym: "spastic ataxia 5, autosomal recessive" EXACT []
synonym: "SPAX5" EXACT []
xref: MIM:614487
xref: MONDO:0013776
xref: ORDO:313772
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050952 ! spastic ataxia

[Term]
id: DOID:0050945
name: spastic ataxia 7
alt_id: DOID:9000811
alt_id: MESH:C566247
def: "A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6821680 "DO", https://www.omim.org/entry/108650 "DO"]
synonym: "spastic ataxia 7, autosomal dominant" EXACT []
synonym: "spastic ataxia with congenital miosis" EXACT []
synonym: "SPAX7" EXACT []
xref: MIM:108650
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050952 ! spastic ataxia
is_a: DOID:9003165 ! Miosis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0050946
name: Charlevoix-Saguenay spastic ataxia
alt_id: MIM:270550
alt_id: RDO:0002476
def: "An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24384335 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26344561 "DO", https://www.omim.org/entry/270550 "DO"]
synonym: "ARSACS" EXACT []
synonym: "autosomal recessive spastic ataxia of Charlevoix-Saguenay" EXACT []
synonym: "SACS" EXACT []
synonym: "SACS-RELATED CONDITION" EXACT []
synonym: "Spastic ataxia 6, autosomal recessive" EXACT []
synonym: "Spastic Ataxia Charlevoix-Saguenay Type" EXACT []
synonym: "spastic ataxia of Charlevoix-Saguenay" EXACT []
synonym: "SPAX6" EXACT []
xref: GARD:4910
xref: MESH:C536787
xref: NCI:C154614
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
is_a: DOID:0050952 ! spastic ataxia

[Term]
id: DOID:0050947
name: hereditary hypophosphatemic rickets with hypercalciuria
alt_id: MIM:241530
def: "A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. (DO)" [http://www.omim.org/entry/241530?search=241530&highlight=241530 "DO", http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple "DO"]
synonym: "HHRH" EXACT []
synonym: "hypercalciuric rickets" EXACT []
synonym: "hypophosphatemic rickets with hypercalciuria" EXACT []
synonym: "SLC34A3-RELATED CONDITION" EXACT []
xref: MESH:C562793
is_a: DOID:0080578 ! digenic disease
is_a: DOID:9001738 ! Hypercalciuria
is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets

[Term]
id: DOID:0050948
name: autosomal dominant hypophosphatemic rickets
alt_id: MIM:193100
def: "A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. (DO)" [http://www.omim.org/entry/193100?search=193100&highlight=193100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26365554 "DO"]
synonym: "ADHR" EXACT []
synonym: "autosomal dominant hypophosphatemia" EXACT []
synonym: "hypophosphatemic rickets, dominant" EXACT []
synonym: "vitamin D-resistant rickets, autosomal dominant" EXACT []
xref: MESH:C562791
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets

[Term]
id: DOID:0050949
name: autosomal recessive hypophosphatemic rickets
def: "A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. (DO)" [http://www.omim.org/entry/241520?search=241520&highlight=241520 "DO", http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple "DO"]
synonym: "recessive hypophosphatemic rickets" EXACT []
xref: ORDO:289176
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:0050950
name: autosomal recessive cerebellar ataxia
def: "A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK1138/ "DO"]
xref: MIM:PS213200
xref: ORDO:1172
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050753 ! cerebellar ataxia
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050951
name: hereditary ataxia
def: "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK1138 "DO"]
xref: EFO:0009671
xref: GARD:6614
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:9004866 ! Ataxia
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050952
name: spastic ataxia
def: "A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24384335 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26344561 "DO", https://www.omim.org/entry/270550 "DO"]
xref: MESH:C564815
xref: MIM:PS108600
is_a: DOID:0050951 ! hereditary ataxia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9002121 ! Spinocerebellar Ataxias
is_a: DOID:9007428 ! Muscle Spasticity

[Term]
id: DOID:0050953
name: X-linked hereditary ataxia
def: "A hereditary ataxia that is characterized by X-linked inheritance. (DO)" [https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/ "DO"]
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0050951 ! hereditary ataxia
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0050954
name: spinocerebellar ataxia type 1
def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. (DO)" [https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1 "DO"]
synonym: "cerebelloparenchymal disorder I" EXACT []
synonym: "CPD1" EXACT []
synonym: "Menzel type OPCA" EXACT []
synonym: "olivopontocerebellar atrophy I" EXACT []
synonym: "olivopontocerebellar atrophy IV" EXACT []
synonym: "OPCA1" EXACT []
synonym: "OPCA4" EXACT []
synonym: "OPCA I" EXACT []
synonym: "OPCA IV" EXACT []
synonym: "SCA1" EXACT []
synonym: "Schut Haymaker type OPCA" EXACT []
synonym: "spinocerebellar ataxia 1" EXACT []
synonym: "spinocerebellar atrophy I" EXACT []
xref: EFO:0003089
xref: GARD:4071
xref: MIM:164400
xref: MONDO:0008119
xref: NCI:C129982
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0050955
name: spinocerebellar ataxia type 2
def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene. (DO)" [https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2 "DO"]
synonym: "olivopontocerebellar atrophy 2" EXACT []
synonym: "olivopontocerebellar atrophy, Holguin type" EXACT []
synonym: "olivopontocerebellar atrophy II" EXACT []
synonym: "OPCA2" EXACT []
synonym: "SCA2" EXACT []
synonym: "spinocerebellar ataxia 2" EXACT []
synonym: "spinocerebellar ataxia, Cuban type" EXACT []
synonym: "spinocerebellar ataxia with slow eye movements" EXACT []
synonym: "spinocerebellar atrophy 2" EXACT []
synonym: "spinocerebellar atrophy II" EXACT []
synonym: "spinocerebellar degeneration with slow eye movements" EXACT []
xref: MIM:183090
xref: NCI:C148315
xref: ORDO:98756
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
is_a: DOID:14784 ! olivopontocerebellar atrophy
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0050956
name: spinocerebellar ataxia type 6
def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene. (DO)" [https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6 "DO"]
synonym: "SCA6" EXACT []
synonym: "spinocerebellar ataxia 6" EXACT []
xref: GARD:10351
xref: MIM:183086
xref: MONDO:0008457
xref: NCI:C142838
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0050957
name: spinocerebellar ataxia type 4
def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4 "DO"]
synonym: "SCA4" EXACT []
synonym: "spinocerebellar ataxia 4" EXACT []
synonym: "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy" EXACT []
xref: GARD:9970
xref: MIM:600223
xref: MONDO:0010847
xref: ORDO:98765
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:0050958
name: spinocerebellar ataxia type 7
def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7 "DO"]
synonym: "ADCA, type II" EXACT []
synonym: "autosomal dominant cerebellar ataxia, type II" EXACT []
synonym: "olivopontocerebellar atrophy III" EXACT []
synonym: "OPCA3" EXACT []
synonym: "OPCA III" EXACT []
synonym: "OPCA with macular degeneration and external ophthalmoplegia" EXACT []
synonym: "OPCA with retinal degeneration" EXACT []
synonym: "SCA7" EXACT []
synonym: "spinocerebellar ataxia 7" EXACT []
xref: EFO:0003090
xref: MIM:164500
xref: MONDO:0008120
xref: NCI:C126562
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:0050959
name: spinocerebellar ataxia type 8
alt_id: MIM:608768
def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene. (DO)" [https://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-8 "DO"]
synonym: "SCA8" EXACT []
synonym: "spinocerebellar ataxia 8" EXACT []
xref: MESH:C537307
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050960
name: spinocerebellar ataxia type 10
alt_id: MIM:603516
def: "An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1175/ "DO"]
synonym: "SCA10" EXACT []
synonym: "spinocerebellar ataxia 10" EXACT []
xref: GARD:10474
xref: MESH:C566874
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050961
name: spinocerebellar ataxia type 11
alt_id: MIM:604432
def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-11 "DO"]
synonym: "SCA11" EXACT []
synonym: "Spinocerebellar Ataxia 11" EXACT []
synonym: "TTBK2-RELATED CONDITION" EXACT []
xref: MESH:C565772
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050962
name: spinocerebellar ataxia type 12
alt_id: MIM:604326
def: "An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene. (DO)" [https://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-12 "DO"]
synonym: "PPP2R2B-RELATED DISORDER" EXACT []
synonym: "SCA12" EXACT []
synonym: "spinocerebellar ataxia 12" EXACT []
xref: MESH:C565790
xref: NCI:C154316
xref: ORDO:98762
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050963
name: spinocerebellar ataxia type 13
alt_id: MIM:605259
def: "An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13 "DO"]
synonym: "Autosomal dominant cerebellar ataxia with mental retardation" EXACT []
synonym: "SCA13" EXACT []
synonym: "Spinocerebellar Ataxia 13" EXACT []
xref: MESH:C537195
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050964
name: spinocerebellar ataxia type 14
alt_id: MIM:605361
def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9867/spinocerebellar-ataxia-14 "DO"]
synonym: "SCA14" EXACT []
synonym: "Spinocerebellar Ataxia 14" EXACT []
xref: MESH:C537196
xref: RDO:0002985
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050965
name: spinocerebellar ataxia type 15
alt_id: DOID:0050966
alt_id: MIM:606658
def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15 "DO"]
synonym: "ITPR1-RELATED SYNDROMIC AND NON-SYNDROMIC HEREDITARY ATAXIA" BROAD []
synonym: "SCA15" EXACT []
synonym: "SCA16" EXACT []
synonym: "spinocerebellar ataxia 15" EXACT []
synonym: "spinocerebellar ataxia 16" EXACT []
synonym: "spinocerebellar ataxia type 15/16" EXACT []
synonym: "spinocerebellar ataxia type 16" EXACT []
xref: MESH:C564685
xref: NCI:C150250
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050967
name: spinocerebellar ataxia type 17
alt_id: DOID:9001531
alt_id: DOID:9002725
alt_id: MESH:C563505
alt_id: MESH:C565866
alt_id: MIM:607136
def: "An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene. (DO)" [https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17 "DO"]
synonym: "cerebelloparenchymal disorder II" EXACT []
synonym: "CPD2" EXACT []
synonym: "Cpd, Late-Onset Recessive Type" EXACT []
synonym: "HDL4" EXACT []
synonym: "Huntington's Disease-Like 4" EXACT []
synonym: "Huntington Disease-Like 4" EXACT []
synonym: "Olivopontocerebellar Atrophy V" EXACT []
synonym: "OPCA5" EXACT []
synonym: "OPCA with dementia and extrapyramidal signs" EXACT []
synonym: "SCA17" EXACT []
synonym: "spinocerebellar ataxia 17" EXACT []
xref: EFO:0003091
xref: GARD:10469
xref: MESH:C564616
xref: MONDO:0011781
xref: NCI:C179861
is_a: DOID:0080578 ! digenic disease
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
is_a: DOID:14784 ! olivopontocerebellar atrophy

[Term]
id: DOID:0050968
name: autosomal dominant cerebellar ataxia, deafness and narcolepsy
alt_id: MIM:604121
def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy "DO"]
synonym: "ADCADN" EXACT []
synonym: "cerebellar ataxia, deafness, and narcolepsy" EXACT []
xref: GARD:12372
xref: MESH:C565825
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
is_a: DOID:8986 ! narcolepsy

[Term]
id: DOID:0050969
name: spinocerebellar ataxia type 18
alt_id: MIM:607458
alt_id: RDO:0002986
def: "An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23. (DO)" [https://rarediseases.info.nih.gov/diseases/9976/spinocerebellar-ataxia-18 "DO"]
synonym: "SCA18" EXACT []
synonym: "Sensorimotor Neuropathy with Ataxia, Autosomal Dominant" EXACT []
synonym: "SMNA" EXACT []
synonym: "Spinocerebellar ataxia 18" EXACT []
xref: GARD:9976
xref: MESH:C537197
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050970
name: spinocerebellar ataxia type 19/22
def: "An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor. (DO)" [https://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-19-and-22 "DO"]
synonym: "SCA19" EXACT []
synonym: "SCA22" EXACT []
synonym: "spinocerebellar ataxia 19" EXACT []
synonym: "spinocerebellar ataxia 22" EXACT []
xref: GARD:12365
xref: MESH:C537198
xref: MESH:C542540
xref: MIM:607346
xref: MONDO:0011819
xref: NCI:C163756
xref: ORDO:98772
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050971
name: spinocerebellar ataxia type 20
alt_id: MIM:608687
def: "An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria. (DO)" [https://rarediseases.info.nih.gov/diseases/9997/spinocerebellar-ataxia-20 "DO"]
synonym: "CHROMOSOME 11q12 DUPLICATION SYNDROME, 260-KB" EXACT []
synonym: "SCA20" EXACT []
synonym: "spinocerebellar ataxia 20" EXACT []
synonym: "Spinocerebellar Ataxia With Dysphonia" EXACT []
synonym: "Spinocerebellar Ataxia With Spasmodic Cough" EXACT []
xref: GARD:9997
xref: MESH:C537199
xref: RDO:0002988
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050972
name: spinocerebellar ataxia type 21
alt_id: MIM:607454
def: "An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity. (DO)" [https://rarediseases.info.nih.gov/diseases/9999/spinocerebellar-ataxia-21 "DO"]
synonym: "SCA21" EXACT []
synonym: "Spinocerebellar Ataxia 21" EXACT []
xref: GARD:9999
xref: MESH:C537200
xref: RDO:0002989
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050973
name: spinocerebellar ataxia type 23
alt_id: MIM:610245
alt_id: RDO:0002990
def: "An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9950/spinocerebellar-ataxia-23 "DO"]
synonym: "SCA23" EXACT []
synonym: "spinocerebellar ataxia 23" EXACT []
xref: MESH:C537201
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050974
name: spinocerebellar ataxia type 25
alt_id: MIM:608703
def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21. (DO)" [https://rarediseases.info.nih.gov/diseases/9996/spinocerebellar-ataxia-25 "DO"]
synonym: "SCA25" EXACT []
synonym: "spinocerebellar ataxia 25" EXACT []
xref: GARD:9996
xref: MESH:C537202
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050975
name: spinocerebellar ataxia type 26
def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9995/spinocerebellar-ataxia-26 "DO"]
synonym: "SCA26" EXACT []
synonym: "spinocerebellar ataxia 26" EXACT []
xref: GARD:9995
xref: MESH:C537203
xref: MIM:609306
xref: MONDO:0012246
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050976
name: spinocerebellar ataxia type 27
alt_id: DOID:0111794
alt_id: MESH:C537856
def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome. (DO)" [https://rarediseases.info.nih.gov/diseases/9963/spinocerebellar-ataxia-27 "DO"]
synonym: "autosomal dominant cerebellar ataxia, FGF14-related" EXACT []
synonym: "congenital nystagmus 4" EXACT []
synonym: "congenital nystagmus 4, autosomal dominant" EXACT []
synonym: "NYS4" EXACT []
synonym: "SCA27" EXACT []
synonym: "spinocerebellar ataxia 27" EXACT []
synonym: "vestibulocerebellar disorder with predominant ocular signs" EXACT []
xref: GARD:9603
xref: MESH:C537204
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:0050977
name: spinocerebellar ataxia type 28
alt_id: MIM:610246
def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28 "DO"]
synonym: "SCA28" EXACT []
synonym: "spinocerebellar ataxia 28" EXACT []
xref: MESH:C537205
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050978
name: spinocerebellar ataxia type 29
alt_id: MIM:117360
def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29 "DO"]
synonym: "ACV" EXACT []
synonym: "aplasia of cerebellar vermis" EXACT []
synonym: "CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT" EXACT []
synonym: "cerebellar ataxia, early-onset, nonprogressive" EXACT []
synonym: "cerebellar vermis aplasia" EXACT []
synonym: "CNPCA" EXACT []
synonym: "ITPR1-related syndromic and non-syndromic hereditary ataxia" BROAD []
synonym: "SCA29" EXACT []
synonym: "spinocerebellar ataxia 29" EXACT []
synonym: "Spinocerebellar ataxia 29, congenital nonprogressive" EXACT []
xref: MESH:C537206
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050979
name: spinocerebellar ataxia type 30
alt_id: MIM:613371
def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene. (DO)" [https://www.omim.org/entry/613371 "DO"]
synonym: "SCA30" EXACT []
synonym: "Spinocerebellar Ataxia 30" EXACT []
xref: GARD:4950
xref: MESH:C575214
xref: RDO:0015780
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050980
name: spinocerebellar ataxia type 31
def: "An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9975/spinocerebellar-ataxia-31 "DO"]
synonym: "SCA31" EXACT []
synonym: "spinocerebellar ataxia, 16q22-linked" EXACT []
synonym: "spinocerebellar ataxia 31" EXACT []
xref: MESH:C566146
xref: MIM:117210
xref: MONDO:0007296
xref: NCI:C176901
xref: ORDO:217012
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050981
name: spinocerebellar ataxia type 34
alt_id: DOID:9005475
alt_id: MIM:133190
def: "An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-34 "DO"]
synonym: "erythrokeratodermia - ataxia" EXACT []
synonym: "erythrokeratodermia with ataxia" EXACT []
synonym: "Giroux Barbeau syndrome" EXACT []
xref: MESH:C535738
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0050982
name: spinocerebellar ataxia type 35
def: "An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene. (DO)" [https://www.omim.org/entry/613908 "DO"]
synonym: "SCA35" EXACT []
synonym: "spinocerebellar ataxia 35" EXACT []
xref: MIM:613908
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050983
name: spinocerebellar ataxia type 36
def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene. (DO)" [https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36 "DO"]
synonym: "SCA36" EXACT []
synonym: "spinocerebellar ataxia 36" EXACT []
xref: MIM:614153
xref: NCI:C148316
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050984
name: spinocerebellar ataxia type 37
def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene. (DO)" [https://www.omim.org/entry/615945 "DO"]
synonym: "SCA37" EXACT []
synonym: "spinocerebellar ataxia 37" EXACT []
xref: MIM:615945
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
created_by: rgd
creation_date: 2017-08-08T00:00:00Z

[Term]
id: DOID:0050985
name: spinocerebellar ataxia type 38
def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene. (DO)" [https://www.omim.org/entry/615957 "DO"]
synonym: "SCA38" EXACT []
synonym: "spinocerebellar ataxia 38" EXACT []
xref: EFO:0009056
xref: MIM:615957
xref: MONDO:0014417
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
created_by: rgd
creation_date: 2017-04-19T00:00:00Z

[Term]
id: DOID:0050986
name: spinocerebellar ataxia type 40
def: "An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene. (DO)" [https://www.omim.org/entry/616053 "DO"]
synonym: "CCDC88C-RELATED CONDITION" BROAD []
synonym: "SCA40" EXACT []
synonym: "spinocerebellar ataxia 40" EXACT []
xref: EFO:0009057
xref: MIM:616053
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
created_by: rgd
creation_date: 2017-04-19T00:00:00Z

[Term]
id: DOID:0050987
name: hypomyelinating leukoencephalopathy
def: "An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22232354 "DO"]
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
is_a: DOID:9002704 ! Leukoencephalopathies

[Term]
id: DOID:0050988
name: GRID2-related spinocerebellar ataxia
def: "An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss. (DO)" [https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/ "DO"]
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050989
name: episodic ataxia type 1
alt_id: MIM:160120
def: "An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1. (DO)" [https://www.omim.org/entry/160120 "DO"]
synonym: "AEM" EXACT []
synonym: "AEMK" EXACT []
synonym: "EA1" EXACT []
synonym: "EAM" EXACT []
synonym: "episodic ataxia with myokymia" EXACT []
synonym: "hereditary continuous muscle fiber activity" NARROW []
synonym: "hereditary paroxysmal ataxia with neuromyotonia" EXACT []
synonym: "ISAACS-MERTENS SYNDROME" NARROW []
synonym: "MYOKYMIA 1 WITH HYPOMAGNESEMIA" NARROW []
synonym: "MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA" NARROW []
synonym: "myokymia with periodic ataxia" EXACT []
synonym: "myokymia with periodic ataxia 1" NARROW []
xref: MESH:C563278
is_a: DOID:9003935 ! Myokymia
is_a: DOID:963 ! episodic ataxia

[Term]
id: DOID:0050990
name: episodic ataxia type 2
alt_id: MIM:108500
def: "An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. (DO)" [https://www.omim.org/entry/108500 "DO"]
synonym: "acetazolamide-responsive episodic ataxia syndrome" EXACT []
synonym: "Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia" EXACT []
synonym: "APCA" EXACT []
synonym: "Ataxia, Familial Paroxysmal" EXACT []
synonym: "CAPA" EXACT []
synonym: "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive" EXACT []
synonym: "Cerebellopathy, hereditary paroxysmal" EXACT []
synonym: "EA2" EXACT []
synonym: "EPISODIC ATAXIA, TYPE 2, AND EPILEPSY" NARROW []
synonym: "Episodic ataxia with nystagmus" EXACT []
synonym: "nystagmus-associated episodic ataxia" EXACT []
xref: MESH:C535506
xref: NCI:C202603
is_a: DOID:963 ! episodic ataxia
is_a: DOID:9650 ! pathologic nystagmus

[Term]
id: DOID:0050991
name: episodic ataxia type 3
alt_id: MIM:606554
alt_id: RDO:0013568
def: "An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.omim.org/entry/606554 "DO"]
synonym: "EA3" EXACT []
synonym: "episodic ataxia with vertigo and tinnitus" EXACT []
xref: MESH:C564697
is_a: DOID:9001733 ! Tinnitus
is_a: DOID:963 ! episodic ataxia
is_a: DOID:9847 ! peripheral vertigo

[Term]
id: DOID:0050992
name: episodic ataxia type 4
alt_id: MIM:606552
def: "An episodic ataxia that is characterized by vertigo and diplopia. (DO)" [https://www.omim.org/entry/606552 "DO"]
synonym: "Periodic Vestibulocerebellar Ataxia" EXACT []
xref: MESH:C564698
is_a: DOID:963 ! episodic ataxia

[Term]
id: DOID:0050993
name: episodic ataxia type 5
alt_id: MIM:613855
def: "An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene. (DO)" [https://www.omim.org/entry/613855 "DO"]
synonym: "EA5" EXACT []
xref: MESH:C566601
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:963 ! episodic ataxia

[Term]
id: DOID:0050994
name: episodic ataxia type 6
alt_id: MIM:612656
def: "An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene. (DO)" [https://www.omim.org/entry/612656 "DO"]
synonym: "EA6" EXACT []
xref: MESH:C567207
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:963 ! episodic ataxia

[Term]
id: DOID:0050995
name: episodic ataxia type 7
alt_id: MIM:611907
def: "An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.omim.org/entry/611907 "DO"]
synonym: "EA7" EXACT []
xref: MESH:C567459
is_a: DOID:963 ! episodic ataxia

[Term]
id: DOID:0050996
name: episodic ataxia type 8
def: "An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene. (DO)" [https://www.omim.org/entry/616055 "DO"]
xref: MIM:616055
is_a: DOID:963 ! episodic ataxia
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0050997
name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
def: "A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21885617/ "DO", https://pubmed.ncbi.nlm.nih.gov/33981800/ "DO", https://pubmed.ncbi.nlm.nih.gov/38109455/ "DO", https://pubmed.ncbi.nlm.nih.gov/38581205/ "DO"]
synonym: "autosomal recessive cerebellar ataxia with mental retardation" EXACT []
synonym: "autosomal recessive cerebellar hypoplasia with cerebral gyral simplification" EXACT []
synonym: "CAMRQ" EXACT []
synonym: "CAMRQ syndrome" EXACT []
synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion" EXACT []
synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome" EXACT []
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome" EXACT []
synonym: "cerebellar ataxia, mental retardation and dysequlibrium syndrome" EXACT []
synonym: "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion" EXACT []
synonym: "congenital cerebellar ataxia and mental retardation, autosomal recessive" EXACT []
synonym: "DES" EXACT []
synonym: "disequilibrium syndrome" RELATED []
synonym: "dysequilibrium syndrome" EXACT []
synonym: "nonprogressive cerebellar disorder with mental retardation" EXACT []
synonym: "Uner Tan syndrome" EXACT []
synonym: "UTS" EXACT []
xref: GARD:1998
xref: MESH:C535731
xref: MIM:PS224050
xref: MONDO:0009133
xref: OMIA:001947
xref: ORDO:1766
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0050998
name: nonprogressive cerebellar ataxia with mental retardation
def: "An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. (DO)" [https://www.omim.org/entry/614756 "DO", MIM:614756]
synonym: "CAMTA1-RELATED CONDITION" EXACT []
synonym: "CANPMR" EXACT []
synonym: "CECBA" EXACT []
synonym: "CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES" EXACT []
synonym: "NONPROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY" EXACT []
xref: MIM:614756
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0050999
name: autosomal recessive spinocerebellar ataxia 10
def: "An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene. (DO)" [https://www.omim.org/entry/613728 "DO"]
synonym: "SCAR10" EXACT []
xref: MIM:613728
xref: MONDO:0013392
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0060000
name: infective endocarditis
def: "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. (DO)" [http://en.wikipedia.org/wiki/Endocarditis "DO", http://en.wikipedia.org/wiki/Infective_endocarditis "DO"]
synonym: "infective endocarditides" EXACT []
xref: GARD:6337
is_a: DOID:10314 ! endocarditis
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:1564 ! fungal infectious disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0060001
name: withdrawal disorder
def: "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. (DO)" [http://en.wikipedia.org/wiki/Withdrawal "DO"]
synonym: "alcohol withdrawal" NARROW []
synonym: "Drug Withdrawal Symptom" EXACT []
synonym: "drug withdrawal symptoms" EXACT []
synonym: "Substance Withdrawal Syndrome" EXACT []
synonym: "Substance Withdrawal Syndromes" EXACT []
synonym: "Withdrawal Symptom" EXACT []
synonym: "withdrawal symptoms" EXACT []
xref: EFO:0004777
xref: EFO:0005800
xref: MESH:D013375
is_a: DOID:303 ! substance-related disorder

[Term]
id: DOID:0060002
name: C1 inhibitor deficiency
def: "A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. (DO)" [http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease "DO"]
synonym: "C1 esterase inhibitor deficiency" EXACT []
synonym: "deficiency of C1 esterase inhibitor" EXACT []
synonym: "Quincke edema" EXACT []
is_a: DOID:626 ! complement deficiency
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0060004
name: autoimmune disease of central nervous system
def: "An autoimmune hypersensitivity disease located_in the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"]
xref: EFO:0020092
is_a: DOID:331 ! central nervous system disease
is_a: DOID:438 ! autoimmune disease of the nervous system
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0060005
name: autoimmune disease of endocrine system
def: "An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"]
is_a: DOID:28 ! endocrine system disease
is_a: DOID:417 ! autoimmune disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060007
name: CD3zeta deficiency
def: "A severe combined immunodeficiency that affects the development and function of T cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16264327 "DO"]
is_a: DOID:627 ! severe combined immunodeficiency
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060008
name: janus kinase-3 deficiency
def: "A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells. (DO)" [https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficiency#inheritance "DO"]
xref: EFO:0005565
xref: RDO:9002904
is_a: DOID:627 ! severe combined immunodeficiency
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060009
name: MHC class I deficiency
alt_id: MIM:604571
def: "A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. (DO)" [https://en.wikipedia.org/wiki/Bare_lymphocyte_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/25001848 "DO"]
synonym: "BARE LYMPHOCYTE SYNDROME TYPE 1" EXACT []
synonym: "Bare Lymphocyte Syndrome, Type I" EXACT []
synonym: "BLSI" EXACT []
synonym: "BLS, Type I" EXACT []
synonym: "HLA Class I Deficiency" EXACT []
xref: MESH:C565759
xref: NCI:C171267
xref: RDO:0014312
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060010
name: Omenn syndrome
alt_id: MIM:603554
def: "A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. (DO)" [https://en.wikipedia.org/wiki/Omenn_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/11213808 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14328107 "DO"]
synonym: "combined immunodeficiency with hypereosinophilia" EXACT []
synonym: "familial reticuloendotheliosis, with eosinophilia" EXACT []
synonym: "Omenn's syndrome" EXACT []
synonym: "Omenns syndrome" EXACT []
synonym: "severe combined immunodeficiency with hypereosinophilia" EXACT []
xref: GARD:8198
xref: ICD10CM:D81.8
xref: MESH:C538564
xref: NCI:C61240
is_a: DOID:225 ! syndrome
is_a: DOID:627 ! severe combined immunodeficiency
is_a: DOID:9001371 ! Eosinophilia

[Term]
id: DOID:0060011
name: recombinase activating gene 1 deficiency
def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO)" [http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html "DO"]
xref: MONDO:0000572
is_a: DOID:627 ! severe combined immunodeficiency
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060012
name: recombinase activating gene 2 deficiency
def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO)" [http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html "DO"]
synonym: "RAG2 DEFICIENCY" EXACT []
xref: EFO:0009651
xref: RDO:9002906
is_a: DOID:627 ! severe combined immunodeficiency
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060013
name: X-linked severe combined immunodeficiency
def: "A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. (DO)" [http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency "DO", https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms "DO"]
synonym: "gamma chain deficiency" EXACT []
synonym: "IMD4" EXACT []
synonym: "Immunodeficiency 4" EXACT []
synonym: "SCIDX" EXACT []
synonym: "SCID-X1" EXACT []
synonym: "SCIDX1" EXACT []
synonym: "thymic epithelial hypoplasia" EXACT []
synonym: "X-linked SCID" EXACT []
synonym: "X-linked severe combined immunodeficiency disease" EXACT []
synonym: "X-linked severe combined immunodeficiency, T-cell negative, B-cell positive, NK-cell negative" EXACT []
synonym: "X-SCID" EXACT []
synonym: "XSCID" EXACT []
xref: EFO:0005555
xref: EFO:1001451
xref: GARD:5618
xref: MIM:300400
xref: NCI:C4682
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:627 ! severe combined immunodeficiency
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0060014
name: CD45 deficiency
def: "A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29366662 "DO"]
is_a: DOID:627 ! severe combined immunodeficiency
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060016
name: CD3delta deficiency
def: "A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15640687 "DO"]
synonym: "CD3D" EXACT []
is_a: DOID:627 ! severe combined immunodeficiency
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060017
name: CD3epsilon deficiency
def: "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16264327 "DO"]
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:627 ! severe combined immunodeficiency
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060018
name: CD3gamma deficiency
def: "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16264327 "DO"]
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:627 ! severe combined immunodeficiency
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060019
name: coronin-1A deficiency
def: "A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. (DO)" [http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed "DO"]
synonym: "IMD8" EXACT []
synonym: "immunodeficiency 8" EXACT []
synonym: "immunodeficiency-8 with lymphoproliferation" EXACT []
synonym: "T-CELL IMMUNODEFICIENCY WITH EPIDERMODYSPLASIA VERRUCIFORMIS" RELATED []
xref: MIM:615401
is_a: DOID:627 ! severe combined immunodeficiency
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060020
name: reticular dysgenesis
alt_id: MIM:242880
alt_id: MIM:267500
def: "A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. (DO)" [http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum "DO", http://www.ncbi.nlm.nih.gov/gene/204? "DO"]
synonym: "aleukocytosis" EXACT []
synonym: "congenital aleukia" EXACT []
synonym: "De Vaal Disease" EXACT []
synonym: "DeVaal disease" EXACT []
synonym: "Hematopoietic Hypoplasia, Generalized" EXACT []
synonym: "Immunoerythromyeloid Hypoplasia" EXACT []
synonym: "reticular dysgenesia" EXACT []
synonym: "severe combined immunodeficiency with leukopenia" EXACT []
xref: GARD:8625
xref: MESH:C538361
xref: NCI:C27070
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:615 ! leukopenia
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0060021
name: DNA ligase IV deficiency
alt_id: MIM:606593
def: "A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. (DO)" [http://omim.org/entry/606593 "DO", http://www.ncbi.nlm.nih.gov/gene/3981 "DO"]
synonym: "DNA Ligase IV Syndrome" EXACT []
synonym: "LIG4-related disorder" EXACT []
synonym: "LIG4-related disorders" EXACT []
synonym: "LIG4 Syndrome" EXACT []
synonym: "PRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSISPRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSIS" NARROW []
xref: MESH:C564694
xref: NCI:C122657
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060022
name: CD40 ligand deficiency
def: "A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30681380 "DO"]
synonym: "HIGM1" EXACT []
synonym: "HIGM1 syndrome" EXACT []
synonym: "HIGM1 syndromes" EXACT []
synonym: "HIGMX-1" EXACT []
synonym: "hyper-IgM immunodeficiency syndrome, type 1" EXACT []
synonym: "Hyper IgM Syndrome 1" EXACT []
synonym: "IHIS" EXACT []
synonym: "IMD3" EXACT []
synonym: "IMMUNODEFICIENCY 3" EXACT []
synonym: "Immunodeficiency with Hyper IgM, Type 1" EXACT []
synonym: "IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM" EXACT []
synonym: "XHIGM" EXACT []
synonym: "XHIM" EXACT []
synonym: "X-linked hyper-IgM immunodeficiencies" EXACT []
synonym: "X-linked hyper-IgM immunodeficiency" EXACT []
synonym: "X-linked hyper-IgM syndrome" EXACT []
synonym: "X-linked hyper-immunoglobulin M (IgM) syndrome" EXACT []
xref: MESH:D053307
xref: MIM:308230
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:2959 ! hyperimmunoglobulin syndrome
is_a: DOID:628 ! combined T cell and B cell immunodeficiency

[Term]
id: DOID:0060023
name: immunodeficiency with hyper IgM type 3
def: "A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11675497 "DO"]
synonym: "CD40 deficiency" EXACT []
synonym: "CD40-RELATED CONDITION" EXACT []
synonym: "HIGM3" EXACT []
synonym: "HIGM3 syndrome" EXACT []
synonym: "Hyper IgM Immunodeficiency Syndrome Type 3" EXACT []
synonym: "hyper IgM syndrome 3" EXACT []
synonym: "hyper-IgM syndrome due to CD40 deficiency" EXACT []
synonym: "type 3 hyper-IgM immunodeficiency" EXACT []
xref: GARD:10579
xref: MIM:606843
xref: NCI:C176416
xref: ORDO:101090
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080544 ! hyper IgM syndrome
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0060024
name: lambda 5 deficiency
def: "A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. (DO)" [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770 "DO", http://www.ncbi.nlm.nih.gov/gene/3543? "DO"]
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:2115 ! B cell deficiency
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0060025
name: immunoglobulin alpha deficiency
def: "A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor. (DO)" [http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency "DO", http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205 "DO", http://www.ncbi.nlm.nih.gov/gene/973? "DO"]
synonym: "gamma-A-globulin deficiency" EXACT []
synonym: "IgA deficiencies" EXACT []
synonym: "IgA deficiency" EXACT []
xref: EFO:1001929
xref: GARD:10197
xref: MESH:D017098
xref: ORDO:69127
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11702 ! dysgammaglobulinemia
is_a: DOID:2115 ! B cell deficiency

[Term]
id: DOID:0060026
name: immunoglobulin beta deficiency
def: "A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance. (DO)" [https://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency "DO"]
synonym: "CD79B Deficiency" EXACT []
synonym: "IgB Deficiency" EXACT []
synonym: "Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells" EXACT []
xref: MESH:C567200
xref: RDO:0015341
is_a: DOID:2115 ! B cell deficiency
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:0060027
name: agammaglobulinemia 4
alt_id: RDO:0009901
def: "An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10583958 "DO"]
synonym: "AGM4" EXACT []
synonym: "autosomal recessive agammaglobulinemia 4" EXACT []
synonym: "autosomal recessive agammaglobulinemia due to BLNK defect" EXACT []
synonym: "B cell linker protein deficiency" EXACT []
synonym: "BLNK deficiency" EXACT []
xref: MIM:613502
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2583 ! agammaglobulinemia

[Term]
id: DOID:0060028
name: Good syndrome
def: "A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. (DO)" [http://en.wikipedia.org/wiki/Good_syndrome "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3102047/ "DO"]
synonym: "thymoma with hypogammaglobulinemia" EXACT []
is_a: DOID:2583 ! agammaglobulinemia
is_a: DOID:3275 ! thymoma
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:0060029
name: autoimmune disease of exocrine system
def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"]
is_a: DOID:417 ! autoimmune disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060030
name: autoimmune disease of eyes, ear, nose and throat
def: "An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"]
is_a: DOID:0050155 ! sensory system disease
is_a: DOID:438 ! autoimmune disease of the nervous system
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060031
name: autoimmune disease of gastrointestinal tract
def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"]
synonym: "IMMUNODEFICIENCY AND AUTOIMMUNE ENTEROCOLOPATHY" NARROW []
is_a: DOID:417 ! autoimmune disease
is_a: DOID:77 ! gastrointestinal system disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060032
name: autoimmune disease of musculoskeletal system
def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"]
is_a: DOID:17 ! musculoskeletal system disease
is_a: DOID:417 ! autoimmune disease
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0060033
name: autoimmune disease of peripheral nervous system
def: "An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"]
xref: RDO:9002712
is_a: DOID:438 ! autoimmune disease of the nervous system
is_a: DOID:574 ! peripheral nervous system disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0060034
name: dropped head syndrome
alt_id: DOID:9009019
def: "A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23203936/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621852/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763751 "DO"]
synonym: "Dropped Head Syndromes" EXACT []
synonym: "floppy head syndrome" EXACT []
xref: EFO:1001987
is_a: DOID:0060564 ! spinal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004757 ! Axial Myopathy, Late-Onset
created_by: mtutaj
creation_date: 2022-11-30T18:56:52Z

[Term]
id: DOID:0060036
name: intrinsic cardiomyopathy
def: "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. (DO)" [https://en.wikipedia.org/wiki/Cardiomyopathy "DO"]
is_a: DOID:0050700 ! cardiomyopathy
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:0060037
name: developmental disorder of mental health
def: "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. (DO)" [http://en.wikipedia.org/wiki/Developmental_disorders "DO"]
xref: EFO:0005548
xref: RDO:9003240
is_a: DOID:150 ! disease of mental health
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0060038
name: specific developmental disorder
def: "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. (DO)" [http://en.wikipedia.org/wiki/Specific_developmental_disorder "DO"]
is_a: DOID:0060037 ! developmental disorder of mental health

[Term]
id: DOID:0060039
name: autoimmune disease of skin and connective tissue
def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"]
is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system
is_a: DOID:37 ! skin disease
is_a: DOID:65 ! connective tissue disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060040
name: pervasive developmental disorder
alt_id: DOID:9000537
def: "A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. (DO)" [https://www.ninds.nih.gov/Disorders/All-Disorders/Pervasive-Developmental-Disorders-Information-Page "DO"]
synonym: "pervasive child development disorders" EXACT []
synonym: "pervasive development disorder" EXACT []
synonym: "pervasive development disorders" EXACT []
xref: ICD9CM:299.80
xref: MESH:D002659
xref: NCI:C97179
is_a: DOID:0060037 ! developmental disorder of mental health
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0060041
name: autism spectrum disorder
def: "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. (DO)" [http://en.wikipedia.org/wiki/Autism_spectrum_disorder "DO", http://www.neurodevnet.ca "DO", https://www.genome.gov/Genetic-Disorders/Autism "DO"]
synonym: "ASD" EXACT []
synonym: "Autism Spectrum Disorders" EXACT []
synonym: "AUTISM, SUSCEPTIBLITY TO" RELATED []
synonym: "Autistic spectrum disorder with isolated skills" NARROW []
synonym: "familial autism spectrum disorder" NARROW []
synonym: "NRXN2-RELATED AUTISM SPECTRUM DISORDER" NARROW []
xref: EFO:0003756
xref: GARD:10248
xref: MESH:D000067877
xref: NCI:C88412
is_a: DOID:0060040 ! pervasive developmental disorder

[Term]
id: DOID:0060042
name: atypical autism
def: "An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism. (DO)" [http://counsellingresource.com/distress/autistic/autism-atypical.html "DO", https://kidsbrainhealth.ca "DO", https://www.thehealthboard.com/what-is-atypical-autism.htm "DO"]
synonym: "PDD" EXACT []
synonym: "pervasive developmental disorder" EXACT []
xref: EFO:0003759
xref: MONDO:0016052
is_a: DOID:0060041 ! autism spectrum disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0060043
name: sexual health disorder
def: "A disease of mental health that involves the impairment in normal sexual functioning. (DO)" [https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction "DO"]
synonym: "Frigidity" EXACT []
synonym: "Orgasmic Disorder" EXACT []
synonym: "orgasmic disorders" EXACT []
synonym: "Sexual Arousal Disorder" EXACT []
synonym: "Sexual Arousal Disorders" EXACT []
synonym: "Sexual Aversion Disorder" EXACT []
synonym: "sexual aversion disorders" EXACT []
synonym: "sexual disorder" EXACT []
xref: MESH:D020018
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:0060044
name: paraphilia disorder
def: "A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects. (DO)" [https://en.wikipedia.org/wiki/Paraphilia "DO"]
synonym: "Paraphilia" EXACT []
synonym: "paraphilias" EXACT []
synonym: "Paraphilic Disorder" EXACT []
synonym: "Paraphilic Disorders" EXACT []
synonym: "Sex Deviation" EXACT []
synonym: "sex deviations" EXACT []
xref: MESH:D010262
is_a: DOID:0060043 ! sexual health disorder

[Term]
id: DOID:0060045
name: Munchausen by proxy
def: "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. (DO)" [http://en.wikipedia.org/wiki/Munchausen_by_proxy "DO"]
synonym: "Munchausen syndrome by proxy" EXACT []
xref: MESH:D016735
is_a: DOID:1766 ! factitious disorder

[Term]
id: DOID:0060046
name: aphasia
def: "A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language. (DO)" [http://en.wikipedia.org/wiki/Aphasia "DO"]
synonym: "Acquired Aphasia" EXACT []
synonym: "Ageusic Aphasia" EXACT []
synonym: "ageusic aphasias" EXACT []
synonym: "Alogia" EXACT []
synonym: "alogias" EXACT []
synonym: "Anepia" EXACT []
synonym: "anepias" EXACT []
synonym: "Auditory Discriminatory Aphasia" EXACT []
synonym: "auditory discriminatory aphasias" EXACT []
synonym: "Commisural Aphasia" EXACT []
synonym: "commisural aphasias" EXACT []
synonym: "Dejerine Lichtheim Phenomenon" EXACT []
synonym: "Dysphasia" EXACT []
synonym: "Functional Aphasia" EXACT []
synonym: "Functional Aphasias" EXACT []
synonym: "Global Aphasia" EXACT []
synonym: "Global Aphasias" EXACT []
synonym: "Global Dysphasia" EXACT []
synonym: "Global Dysphasias" EXACT []
synonym: "Graphomotor Aphasia" EXACT []
synonym: "Graphomotor Aphasias" EXACT []
synonym: "Intellectual Aphasia" EXACT []
synonym: "Intellectual Aphasias" EXACT []
synonym: "Lichtheim's Sign" EXACT []
synonym: "Lichtheim Sign" EXACT []
synonym: "Lichtheims Sign" EXACT []
synonym: "Logagnosia" EXACT []
synonym: "Logagnosias" EXACT []
synonym: "Logamnesia" EXACT []
synonym: "Logamnesias" EXACT []
synonym: "Logasthenia" EXACT []
synonym: "Logasthenias" EXACT []
synonym: "Mixed Aphasia" EXACT []
synonym: "Mixed Aphasias" EXACT []
synonym: "Post-Ictal Aphasia" EXACT []
synonym: "Post-Ictal Aphasias" EXACT []
synonym: "Post-Traumatic Aphasia" EXACT []
synonym: "Post-Traumatic Aphasias" EXACT []
synonym: "Progressive Aphasia" EXACT []
synonym: "progressive aphasias" EXACT []
synonym: "semantic aphasia" EXACT []
synonym: "semantic aphasias" EXACT []
synonym: "syntactical aphasia" EXACT []
synonym: "syntactical aphasias" EXACT []
xref: MESH:D001037
xref: MONDO:0000598
is_a: DOID:93 ! language disorder

[Term]
id: DOID:0060047
name: writing disorder
def: "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. (DO)" [http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities "DO"]
is_a: DOID:8927 ! learning disability
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060048
name: nosophobia
def: "A specific phobia that involves an irrational fear of contracting a disease. (DO)" [http://en.wikipedia.org/wiki/Nosophobia "DO"]
xref: EFO:1001903
is_a: DOID:599 ! specific phobia

[Term]
id: DOID:0060049
name: autoimmune disease of urogenital tract
def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"]
is_a: DOID:417 ! autoimmune disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060050
name: autoimmune disease of blood
def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"]
is_a: DOID:417 ! autoimmune disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060051
name: autoimmune disease of cardiovascular system
def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"]
synonym: "autoimmune disorder of cardiovascular system" EXACT []
xref: MONDO:0000603
is_a: DOID:1287 ! cardiovascular system disease
is_a: DOID:417 ! autoimmune disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060054
name: autonomic peripheral neuropathy
def: "A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence. (DO)" [https://en.wikipedia.org/wiki/Autonomic_neuropathy "DO"]
is_a: DOID:870 ! neuropathy
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0060055
name: popliteal pterygium syndrome
alt_id: MIM:119500
def: "A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. (DO)" [http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome "DO", https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/2352260 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4384166 "DO"]
synonym: "cleft lip-palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies" EXACT []
synonym: "facio-genito-popliteal syndrome" EXACT []
synonym: "faciogenitopopliteal syndrome" EXACT []
synonym: "popliteal web syndrome" EXACT []
synonym: "PPS" EXACT []
xref: GARD:3242
xref: MESH:C562509
xref: NCI:C118786
xref: ORDO:1300
xref: ORDO:294963
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11193 ! syndactyly
is_a: DOID:674 ! cleft palate
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:0060056
name: hypersensitivity reaction disease
def: "An immune system disease that has_material_basis_in abnormal immune responses. (DO)" [http://en.wikipedia.org/wiki/Hypersensitivity "DO", http://www.ncbi.nlm.nih.gov/books/NBK27136/ "DO"]
xref: EFO:1002003
is_a: DOID:2914 ! immune system disease
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0060057
name: gluten allergy
def: "A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance. (DO)" [https://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy "DO"]
synonym: "allergy to gluten" EXACT []
synonym: "gluten allergic reaction" EXACT []
is_a: DOID:3044 ! food allergy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0060058
name: lymphoma
def: "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. (DO)" [http://en.wikipedia.org/wiki/Lymphoma "DO", http://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161 "DO", http://www.nlm.nih.gov/medlineplus/lymphoma.html "DO"]
synonym: "germinoblastic sarcoma" EXACT []
synonym: "germinoblastic sarcomas" EXACT []
synonym: "germinoblastoma" EXACT []
synonym: "germinoblastomas" EXACT []
synonym: "lymphoid cancer" EXACT []
synonym: "lymphomas" EXACT []
synonym: "lymphoma, somatic" NARROW []
synonym: "malignant lymphoma" EXACT []
synonym: "malignant lymphomas" EXACT []
synonym: "reticulolymphosarcoma" EXACT []
synonym: "reticulolymphosarcomas" EXACT []
xref: EFO:0000574
xref: ICD10CM:C85.9
xref: ICDO:9590/3
xref: MESH:D008223
xref: MONDO:0005062
xref: NCI:C128121
xref: NCI:C134786
xref: NCI:C21602
xref: NCI:C3208
xref: NCI:C60448
xref: NCI:C7065
is_a: DOID:0060073 ! lymphatic system cancer
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:2531 ! hematologic cancer
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:0060060
name: non-Hodgkin lymphoma
alt_id: MIM:605027
def: "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. (DO)" [http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma "DO", http://www.cancer.gov/dictionary?CdrID=45148 "DO"]
synonym: "diffuse lymphoma" EXACT []
synonym: "diffuse lymphomas" EXACT []
synonym: "diffuse mixed cell lymphoma" EXACT []
synonym: "diffuse mixed-cell lymphomas" EXACT []
synonym: "Diffuse Mixed Small and Large Cell Lymphoma" EXACT []
synonym: "Diffuse Small Cleaved Cell Lymphoma" EXACT []
synonym: "Diffuse Undifferentiated Lymphoma" EXACT []
synonym: "diffuse undifferentiated lymphomas" EXACT []
synonym: "High-Grade Lymphoma" EXACT []
synonym: "high-grade lymphomas" EXACT []
synonym: "Intermediate-Grade Lymphoma" EXACT []
synonym: "intermediate-grade lymphomas" EXACT []
synonym: "Low-Grade Lymphoma" EXACT []
synonym: "low-grade lymphomas" EXACT []
synonym: "Lymphatic Sarcoma" EXACT []
synonym: "lymphatic sarcomas" EXACT []
synonym: "Lymphoma, Atypical Diffuse Small Lymphoid" EXACT []
synonym: "Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic" EXACT []
synonym: "Lymphoma, Nonhodgkin" EXACT []
synonym: "Lymphoma, Non-Hodgkin, Familial" EXACT []
synonym: "Lymphoma, Non-Hodgkin, Susceptibility To" RELATED []
synonym: "Lymphoma, Small and Large Cleaved-Cell, Diffuse" EXACT []
synonym: "Lymphosarcoma" EXACT []
synonym: "lymphosarcomas" EXACT []
synonym: "Mixed Cell Lymphoma" EXACT []
synonym: "mixed-cell lymphomas" EXACT []
synonym: "Mixed Lymphocytic-Histiocytic Lymphoma" EXACT []
synonym: "mixed lymphocytic-histiocytic lymphomas" EXACT []
synonym: "Mixed Lymphoma" EXACT []
synonym: "mixed lymphomas" EXACT []
synonym: "NHL" EXACT []
synonym: "non-Hodgkin's lymphoma" EXACT []
synonym: "non-Hodgkin malignant lymphoma" EXACT []
synonym: "non-Hodgkins lymphoma" EXACT []
synonym: "pleomorphic lymphoma" EXACT []
synonym: "pleomorphic lymphomas" EXACT []
synonym: "small non cleaved cell lymphoma" EXACT []
synonym: "small noncleaved cell lymphoma" EXACT []
synonym: "small non-cleaved-cell lymphomas" EXACT []
synonym: "small noncleaved-cell lymphomas" EXACT []
synonym: "undifferentiated lymphoma" EXACT []
synonym: "undifferentiated lymphomas" EXACT []
xref: EFO:0005952
xref: ICDO:9591/3
xref: MESH:D008228
xref: NCI:C179055
xref: NCI:C3211
xref: ORDO:547
is_a: DOID:0060058 ! lymphoma

[Term]
id: DOID:0060061
name: primary cutaneous T-cell non-Hodgkin lymphoma
def: "A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells. (DO)" [http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma "DO"]
synonym: "cutaneous T-cell lymphoma" EXACT []
synonym: "cutaneous T-cell lymphomas" EXACT []
synonym: "granulomatous slack skin" EXACT []
xref: EFO:0002913
xref: GARD:6226
xref: MESH:D016410
xref: MONDO:0000607
xref: NCI:C186279
xref: NCI:C3467
is_a: DOID:0050749 ! peripheral T-cell lymphoma

[Term]
id: DOID:0060062
name: familial juvenile hyperuricemic nephropathy
def: "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21060763 "DO"]
synonym: "ADTKD" EXACT []
synonym: "autosomal dominant tubulointerstitial kidney disease" EXACT []
synonym: "FJHN" EXACT []
synonym: "GCKD" EXACT []
synonym: "glomerulocystic kidney disease" EXACT []
synonym: "hereditary interstitial kidney disease" EXACT []
synonym: "HNFJ" EXACT []
synonym: "MCKD" EXACT []
synonym: "medullary cystic kidney disease" EXACT []
synonym: "tubulointerstitial nephritis" EXACT []
xref: MIM:PS162000
xref: ORDO:209886
xref: ORDO:217330
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1920 ! hyperuricemia
is_a: DOID:557 ! kidney disease
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:0060063
name: sideroblastic anemia 1
alt_id: MIM:300751
def: "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. (DO)" [https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia "DO"]
synonym: "ALAS2-RELATED CONDITION" BROAD []
synonym: "ANEMIA, HEREDITARY SIDEROBLASTIC 1, PYRIDOXINE REFRACTORY" NARROW []
synonym: "ANH1" EXACT []
synonym: "congenital sideroblastic anaemia" EXACT []
synonym: "Erythroid 5-Aminolevulinate Synthase Deficiency" EXACT []
synonym: "Hereditary Iron-Loading Anemia" EXACT []
synonym: "hereditary sideroblastic anemia" EXACT []
synonym: "sex-linked hypochromic sideroblastic anemia" EXACT []
synonym: "SIDBA1" EXACT []
synonym: "sideroblastic anaemia 1" EXACT []
synonym: "sideroblastic anaemia 1, late-onset" NARROW []
synonym: "X chromosome-linked sideroblastic anemia" EXACT []
synonym: "X-linked pyridoxine-responsive sideroblastic anemia" EXACT []
synonym: "X-linked sideroblastic anaemia" EXACT []
synonym: "X-linked sideroblastic anemia" EXACT []
synonym: "XLSA" EXACT []
xref: GARD:9456
xref: MESH:C536761
is_a: DOID:0050642 ! hypochromic microcytic anemia
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:8955 ! sideroblastic anemia

[Term]
id: DOID:0060065
name: autosomal recessive pyridoxine-refractory sideroblastic anemia 2
def: "A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive "DO"]
synonym: "autosomal recessive pyridoxine-refractory sideroblastic anaemia 2" EXACT []
synonym: "pyridoxine-refractory autosomal recessive sideroblastic anaemia" EXACT []
synonym: "pyridoxine-refractory autosomal recessive sideroblastic anemia" EXACT []
synonym: "pyridoxine-refractory sideroblastic anemia 2" EXACT []
synonym: "SIDBA2" EXACT []
xref: MESH:C567145
xref: MIM:205950
xref: MONDO:0008785
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:8955 ! sideroblastic anemia

[Term]
id: DOID:0060066
name: pyridoxine-responsive sideroblastic anemia
alt_id: MIM:206000
def: "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance. (DO)" [https://rarediseases.info.nih.gov/diseases/9872/sideroblastic-anemia-pyridoxine-responsive-autosomal-recessive "DO"]
synonym: "Anemia, Congenital Sideroblastic, B6-Responsive" EXACT []
synonym: "pyridoxine-responsive sideroblastic anemia, autosomal recessive" EXACT []
xref: MESH:C565954
is_a: DOID:8955 ! sideroblastic anemia

[Term]
id: DOID:0060067
name: Pearson syndrome
def: "A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. (DO)" [http://en.wikipedia.org/wiki/Pearson_syndrome "DO"]
synonym: "Pearson marrow-pancreas syndrome" EXACT []
synonym: "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction" EXACT []
xref: GARD:7343
xref: MIM:557000
xref: NCI:C115326
is_a: DOID:225 ! syndrome
is_a: DOID:700 ! mitochondrial metabolism disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060068
name: nonbacterial thrombotic endocarditis
def: "An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. (DO)" [http://en.wikipedia.org/wiki/Marantic_endocarditis "DO"]
synonym: "marantic endocarditides" EXACT []
synonym: "marantic endocarditis" EXACT []
synonym: "non-bacterial thrombotic endocarditis" EXACT []
synonym: "non-infective endocarditides" EXACT []
synonym: "non-infective endocarditis" EXACT []
xref: MESH:D059905
is_a: DOID:10314 ! endocarditis

[Term]
id: DOID:0060071
name: pre-malignant neoplasm
def: "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. (DO)" [http://en.wikipedia.org/wiki/Neoplasm "DO"]
synonym: "Clonal Hematopoiesis" NARROW []
synonym: "cutaneous precancerous condition" NARROW []
synonym: "Gallbladder Biliary Intraepithelial Neoplasia" NARROW []
synonym: "Pancreatic Precancerous Condition" NARROW []
synonym: "Precancerous Condition" EXACT []
synonym: "precancerous conditions" EXACT []
synonym: "Preneoplastic Condition" EXACT []
synonym: "preneoplastic conditions" EXACT []
synonym: "Small Intestinal Intraepithelial Neoplasia" NARROW []
xref: EFO:0006892
xref: EFO:1000265
xref: EFO:1000443
xref: EFO:1000536
xref: MESH:D011230
is_a: DOID:14566 ! disease of cellular proliferation

[Term]
id: DOID:0060072
name: benign neoplasm
def: "A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. (DO)" [http://en.wikipedia.org/wiki/Benign_neoplasm "DO", http://www.nlm.nih.gov/medlineplus/benigntumors.html "DO"]
synonym: "benign neoplasms" EXACT []
xref: EFO:0002422
xref: MONDO:0005165
is_a: DOID:14566 ! disease of cellular proliferation
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0060073
name: lymphatic system cancer
def: "An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. (DO)" [http://en.wikipedia.org/wiki/Lymphatic_system "DO"]
is_a: DOID:0060083 ! immune system cancer
is_a: DOID:75 ! lymphatic system disease
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:0060074
name: ductal carcinoma in situ
def: "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells. (DO)" [https://www.breastcancer.org/symptoms/types/dcis "DO", https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=ductal+carcinoma "DO"]
synonym: "Atypical Ductal Hyperplasia" RELATED []
synonym: "Atypical Ductal Hyperplasias" RELATED []
synonym: "DCIS" EXACT []
synonym: "Intraductal Carcinoma" EXACT []
synonym: "Intraductal Carcinomas" EXACT []
synonym: "noninfiltrating intraductal carcinoma" EXACT []
synonym: "noninfiltrating intraductal carcinomas" EXACT []
xref: EFO:0000432
xref: EFO:0008491
xref: MESH:D002285
is_a: DOID:8791 ! breast carcinoma in situ
is_a: DOID:9008138 ! Ductal Carcinoma

[Term]
id: DOID:0060075
name: estrogen-receptor positive breast cancer
def: "A breast cancer that is characterized by the presence of estrogen receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25471040 "DO"]
xref: EFO:1000649
xref: RDO:9001776
is_a: DOID:1612 ! breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:0060076
name: estrogen-receptor negative breast cancer
def: "A breast cancer that is characterized by the absence of estrogen receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25471040 "DO"]
xref: EFO:1000650
xref: RDO:9001777
is_a: DOID:1612 ! breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:0060077
name: progesterone-receptor positive breast cancer
def: "A breast cancer that is characterized by the presence of progesterone receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25471040 "DO"]
xref: EFO:0009782
xref: RDO:9001778
is_a: DOID:1612 ! breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:0060078
name: progesterone-receptor negative breast cancer
def: "A breast cancer that is characterized by the absence of progesterone receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25471040 "DO"]
xref: EFO:0009781
xref: RDO:9001779
is_a: DOID:1612 ! breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:0060079
name: Her2-receptor positive breast cancer
def: "A breast cancer that is characterized by the presence of Her2 receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.sciencedirect.com/science/article/pii/S1470204511703369 "DO"]
xref: EFO:1000294
xref: RDO:9001780
is_a: DOID:1612 ! breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:0060080
name: Her2-receptor negative breast cancer
def: "A breast cancer that is characterized by the absence of Her2 receptors. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25682076 "DO"]
xref: EFO:0009780
xref: RDO:9001781
is_a: DOID:1612 ! breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:0060081
name: triple-receptor negative breast cancer
def: "A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22826413 "DO"]
xref: EFO:0005537
is_a: DOID:1612 ! breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:0060082
name: breast benign neoplasm
def: "A thoracic benign neoplasm that is characterized by lack of malignancy. (DO)" [https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions.html "DO"]
xref: RDO:9003366
is_a: DOID:0060097 ! thoracic benign neoplasm
is_a: DOID:9008939 ! Breast Neoplasms

[Term]
id: DOID:0060083
name: immune system cancer
def: "An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. (DO)" [http://en.wikipedia.org/wiki/Immune_system "DO"]
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:2914 ! immune system disease
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:0060084
name: cell type benign neoplasm
def: "A benign neoplasm that is classified by the type of cell or tissue from which it is derived. (DO)" [http://en.wikipedia.org/wiki/Benign_tumor "DO"]
xref: EFO:0002422
is_a: DOID:0060072 ! benign neoplasm
is_a: DOID:9002052 ! Neoplasms by Histologic Type
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0060085
name: organ system benign neoplasm
alt_id: DOID:1789
def: "A benign neoplasm that is classified by the organ system from which it is arising from. (DO)" [http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.07d&code=C367 "DO"]
xref: EFO:0002422
is_a: DOID:0060072 ! benign neoplasm
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:0060086
name: female reproductive organ benign neoplasm
def: "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK9559/ "DO"]
is_a: DOID:0050622 ! reproductive organ benign neoplasm
is_a: DOID:9007399 ! Female Genital Neoplasms

[Term]
id: DOID:0060087
name: male reproductive organ benign neoplasm
def: "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK9556/ "DO"]
xref: RDO:9002414
is_a: DOID:0050622 ! reproductive organ benign neoplasm
is_a: DOID:9003125 ! Male Genital Neoplasms
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0060088
name: vestibular gland benign neoplasm
def: "A female reproductive organ benign neoplasm that is located_in the vestibular gland. (DO)" [https://en.wikipedia.org/wiki/Bartholin%27s_gland "DO", https://link.springer.com/chapter/10.1007/978-3-642-74828-8_4 "DO"]
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0060089
name: endocrine organ benign neoplasm
def: "An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. (DO)" [http://en.wikipedia.org/wiki/Endocrine_system "DO"]
is_a: DOID:0060085 ! organ system benign neoplasm
is_a: DOID:9007803 ! Endocrine Gland Neoplasms
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0060090
name: central nervous system benign neoplasm
def: "A nervous system benign neoplasm that is characterized by lack of malignancy. (DO)" [https://www.cancer.gov/types/brain/patient/adult-brain-treatment-pdq "DO"]
is_a: DOID:0060115 ! nervous system benign neoplasm
is_a: DOID:9007701 ! Central Nervous System Neoplasms
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0060091
name: cardiovascular organ benign neoplasm
def: "An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. (DO)" [http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system "DO"]
is_a: DOID:0060085 ! organ system benign neoplasm
is_a: DOID:1287 ! cardiovascular system disease
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0060092
name: immune system organ benign neoplasm
def: "An organ system benign neoplasm located_in the immune system organs. (DO)" [http://en.wikipedia.org/wiki/Immune_system "DO"]
xref: RDO:9002422
is_a: DOID:0060085 ! organ system benign neoplasm

[Term]
id: DOID:0060094
name: bone benign neoplasm
def: "A connective tissue benign neoplasm that is located_in bone. (DO)" [http://en.wikipedia.org/wiki/Bone_tumor "DO"]
is_a: DOID:0060123 ! connective tissue benign neoplasm
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:0060095
name: uterine benign neoplasm
def: "A female reproductive organ benign neoplasm that is located_in the uterus. (DO)" [https://en.wikipedia.org/wiki/Uterine_fibroid "DO", https://www.ncbi.nlm.nih.gov/books/NBK9559/ "DO"]
xref: RDO:9002424
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
is_a: DOID:9004268 ! Uterine Neoplasms
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0060096
name: sensory organ benign neoplasm
def: "A nervous system benign neoplasm that is located_in a sensory organ. (DO)" [http://en.wikipedia.org/wiki/Sensory_system "DO"]
is_a: DOID:0050155 ! sensory system disease
is_a: DOID:0060115 ! nervous system benign neoplasm

[Term]
id: DOID:0060097
name: thoracic benign neoplasm
def: "An organ system benign neoplam that is located_in the thoracic cavity. (DO)" [http://en.wikipedia.org/wiki/Thoracic_cavity "DO"]
is_a: DOID:0060085 ! organ system benign neoplasm
is_a: DOID:0060118 ! thoracic disease

[Term]
id: DOID:0060098
name: osteoblastoma
def: "A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas. (DO)" [https://en.wikipedia.org/wiki/Osteoblastoma "DO"]
synonym: "giant osteoid osteoma" EXACT []
synonym: "giant osteoid osteomas" EXACT []
synonym: "osteoblastomas" EXACT []
xref: EFO:1000410
xref: ICDO:9200/0
xref: MESH:D018215
xref: NCI:C3294
is_a: DOID:0060094 ! bone benign neoplasm
is_a: DOID:9007603 ! Bone Tissue Neoplasms

[Term]
id: DOID:0060099
name: musculoskeletal system benign neoplasm
def: "An organ system benign neoplasm that is located_in the muscular and skeletal organs. (DO)" [http://en.wikipedia.org/wiki/Musculoskeletal_system "DO"]
is_a: DOID:0060085 ! organ system benign neoplasm
is_a: DOID:9003582 ! Muscle Tissue Neoplasms
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:0060100
name: musculoskeletal system cancer
def: "An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. (DO)" [http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders "DO"]
synonym: "skeletal system cancer" EXACT []
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:17 ! musculoskeletal system disease
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:0060102
name: cartilage cancer
def: "A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. (DO)" [https://en.wikipedia.org/wiki/Cartilage_tumor "DO"]
is_a: DOID:1222 ! cartilage disease
is_a: DOID:201 ! connective tissue cancer

[Term]
id: DOID:0060103
name: central nervous system embryonal tumor
def: "A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. (DO)" [http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465 "DO", https://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor "DO"]
synonym: "central nervous system primitive neuroectodermal neoplasm" EXACT []
synonym: "CNS embryonal tumour, NEC/NOS" EXACT []
xref: ICDO:9473/3
xref: NCI:C5398
is_a: DOID:368 ! cerebrum cancer
is_a: DOID:9002904 ! Primitive Neuroectodermal Tumors

[Term]
id: DOID:0060104
name: cerebellar medulloblastoma
def: "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. (DO)" [http://en.wikipedia.org/wiki/Medulloblastoma "DO"]
xref: EFO:0002939
is_a: DOID:0050902 ! medulloblastoma
is_a: DOID:4205 ! cerebellum cancer
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0060106
name: brain meningioma
def: "A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. (DO)" [https://en.wikipedia.org/wiki/Meningioma "DO"]
is_a: DOID:1319 ! brain cancer
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:0060108
name: brain glioma
def: "A brain cancer that has_material_basis_in glial cells. (DO)" [http://cancergenome.nih.gov/cancersselected/lowergradeglioma "DO", http://www.cancer.gov/dictionary?CdrID=45700 "DO"]
synonym: "Familial Glioma of Brain" EXACT []
synonym: "lower grade glioma" RELATED []
xref: MESH:C564230
is_a: DOID:1319 ! brain cancer
is_a: DOID:3070 ! high grade glioma

[Term]
id: DOID:0060109
name: vulvar benign neoplasm
def: "A female reproductive organ benign neoplasm that is located_in the vulva. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25220103 "DO"]
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
is_a: DOID:9005804 ! Vulvar Neoplasms

[Term]
id: DOID:0060110
name: cervical benign neoplasm
def: "A female reproductive organ benign neoplasm that is located_in the cervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8400047 "DO"]
is_a: DOID:0060095 ! uterine benign neoplasm
is_a: DOID:9003373 ! Uterine Cervical Neoplasms

[Term]
id: DOID:0060111
name: fallopian tube benign neoplasm
def: "A female reproductive organ benign neoplasm that is located_in the fallopian tube. (DO)" [http://www.glowm.com/section_view/item/8 "DO"]
synonym: "Borderline Fallopian Tube Serous Neoplasm" NARROW []
xref: EFO:1000134
xref: RDO:9003381
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
is_a: DOID:9000189 ! Fallopian Tube Neoplasms
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0060112
name: ovarian benign neoplasm
def: "A female reproductive organ benign neoplasm that is located_in the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24992780 "DO"]
synonym: "Benign Ovarian Endometrioid Tumor" NARROW []
synonym: "Benign Ovarian Surface Epithelial-Stromal Tumor" NARROW []
synonym: "ovarian adenoma benign" NARROW []
xref: EFO:0002507
xref: EFO:1000113
xref: EFO:1000116
xref: EFO:1000117
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
is_a: DOID:9002762 ! Ovarian Neoplasms

[Term]
id: DOID:0060114
name: vaginal benign neoplasm
def: "A female reproductive organ benign neoplasm that is located_in the vagina. (DO)" [https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5 "DO"]
synonym: "vaginal benign neoplasms" EXACT []
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
is_a: DOID:9006698 ! Vaginal Neoplasms

[Term]
id: DOID:0060115
name: nervous system benign neoplasm
def: "An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. (DO)" [http://en.wikipedia.org/wiki/Nervous_system "DO"]
is_a: DOID:0060085 ! organ system benign neoplasm
is_a: DOID:9006557 ! Nervous System Neoplasms
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0060116
name: sensory system cancer
def: "A nervous system cancer that is located in the sensory system. (DO)" [http://en.wikipedia.org/wiki/Sensory_system "DO"]
is_a: DOID:0050155 ! sensory system disease
is_a: DOID:3093 ! nervous system cancer
is_a: DOID:9008625 ! Somatosensory Disorders
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:0060117
name: peritoneal benign neoplasm
def: "A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. (DO)" [http://en.wikipedia.org/wiki/Peritoneal "DO"]
is_a: DOID:0060097 ! thoracic benign neoplasm

[Term]
id: DOID:0060118
name: thoracic disease
def: "A disease of anatomical entity that is located_in the thoracic cavity. (DO)" [http://en.wikipedia.org/wiki/Thoracic_cavity "DO"]
synonym: "thoracic diseases" EXACT []
xref: MESH:D013896
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:7 ! disease of anatomical entity

[Term]
id: DOID:0060119
name: pharynx cancer
def: "A gastrointestinal system cancer that is located_in the pharynx. (DO)" [http://en.wikipedia.org/wiki/Pharynx "DO"]
synonym: "Pharyngeal Adenoid Cystic Carcinoma" NARROW []
synonym: "pharyngeal cancer" EXACT []
xref: EFO:0005577
xref: EFO:1000472
xref: NCI:C3325
xref: RDO:9002335
is_a: DOID:3119 ! gastrointestinal system cancer
is_a: DOID:9002346 ! Pharyngeal Neoplasms
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:0060121
name: integumentary system benign neoplasm
def: "An organ system benign neoplasm located_in the integumentary system organs. (DO)" [http://en.wikipedia.org/wiki/Integumentary_system "DO"]
is_a: DOID:0060085 ! organ system benign neoplasm
is_a: DOID:16 ! integumentary system disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0060122
name: integumentary system cancer
def: "An organ system cancer that is located_in the skin, hair and nails. (DO)" [http://en.wikipedia.org/wiki/Integumentary_system "DO"]
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:16 ! integumentary system disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060123
name: connective tissue benign neoplasm
def: "A musculoskeletal system benign neoplasm that is located_in connective tissue. (DO)" [http://en.wikipedia.org/wiki/Connective_tissue_neoplasm "DO"]
synonym: "mesenchymal tissue neoplasm" EXACT []
synonym: "neoplasm of soft tissue" EXACT []
synonym: "neoplasm of soft tissues" EXACT []
synonym: "soft tissue benign neoplasm" EXACT []
synonym: "tumor of the soft tissue" EXACT []
xref: NCI:C3377
is_a: DOID:0060099 ! musculoskeletal system benign neoplasm
is_a: DOID:9003944 ! Connective Tissue Neoplasms
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0060125
name: heavy chain disease
def: "A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. (DO)" [http://en.wikipedia.org/wiki/Heavy_chain_disease "DO"]
synonym: "gamma Chain Disease" EXACT []
synonym: "gamma-Chain Diseases" EXACT []
synonym: "Heavy Chain Diseases" EXACT []
xref: EFO:1001341
xref: ICD10CM:C88.2
xref: ICDO:9762/3
xref: MESH:D006362
xref: NCI:C3082
xref: NCI:C3083
xref: NCI:C3892
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:2916 ! hypersensitivity reaction type IV disease
is_a: DOID:9003571 ! Paraproteinemias

[Term]
id: DOID:0060126
name: alpha chain disease
def: "A heavy chain disease that results from an overproduction of alpha antibodies (IgA). (DO)" [http://en.wikipedia.org/wiki/Heavy_chain_disease "DO"]
synonym: "alpha-chain diseases" EXACT []
synonym: "alpha heavy chain disease" EXACT []
synonym: "heavy chain disease, IgA type" EXACT []
synonym: "immunoproliferative small intestinal disease" EXACT []
synonym: "IPSID" EXACT []
synonym: "mediterranean lymphoma" EXACT []
synonym: "Seligmann's disease" EXACT []
xref: EFO:1001798
xref: MESH:D007161
is_a: DOID:0060058 ! lymphoma
is_a: DOID:0060125 ! heavy chain disease
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:9002245 ! Intestinal Neoplasms

[Term]
id: DOID:0060127
name: gamma heavy chain disease
def: "A heavy chain disease that results from an overproduction of gamma antibody (IgG). (DO)" [http://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx "DO"]
synonym: "Franklin's disease" EXACT []
synonym: "Franklin disease" EXACT []
synonym: "Franklins disease" EXACT []
xref: GARD:10346
is_a: DOID:0060125 ! heavy chain disease

[Term]
id: DOID:0060128
name: mu chain disease
def: "A heavy chain disease that results from an overproduction of mu antibody (IgM). (DO)" [http://en.wikipedia.org/wiki/Heavy_chain_disease "DO"]
synonym: "mu-chain diseases" EXACT []
is_a: DOID:0060125 ! heavy chain disease

[Term]
id: DOID:0060129
name: delta chain disease
def: "A heavy chain disease that results from an overproduction of delta antibody (IgD). (DO)" [http://en.wikipedia.org/wiki/Heavy_chain_disease "DO"]
is_a: DOID:0060125 ! heavy chain disease

[Term]
id: DOID:0060130
name: akinetopsia
def: "An agnosia that is a loss of motion perception. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060131
name: alexithymia
def: "An agnosia that is a deficiency in understanding, processing, or describing emotions. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060132
name: amusia
alt_id: MIM:191200
def: "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "congenital amusia" EXACT []
synonym: "dysmelodia" EXACT []
synonym: "receptive amusia" EXACT []
synonym: "tone deafness" EXACT []
synonym: "tune deafness" EXACT []
xref: MESH:C566019
is_a: DOID:4090 ! agnosia
is_a: DOID:9002886 ! Auditory Perceptual Disorders

[Term]
id: DOID:0060133
name: anosognosia
def: "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "anosognosias" EXACT []
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060134
name: apperceptive agnosia
def: "An agnosia that is a loss of the ability to distinguish visual shapes. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060135
name: apraxia
def: "An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "apraxia of phonation" EXACT []
synonym: "apraxias" EXACT []
synonym: "articulatory apraxia" EXACT []
synonym: "articulatory apraxias" EXACT []
synonym: "Articulatory Dyspraxia" EXACT []
synonym: "articulatory dyspraxias" EXACT []
synonym: "CAS" EXACT []
synonym: "Developmental Verbal Apraxia" EXACT []
synonym: "developmental verbal apraxias" EXACT []
synonym: "developmental verbal dyspraxia" EXACT []
synonym: "developmental verbal dyspraxias" EXACT []
synonym: "Dressing Apraxia" EXACT []
synonym: "dressing apraxias" EXACT []
synonym: "DVD" EXACT []
synonym: "Dyspraxia" EXACT []
synonym: "Dyspraxias" EXACT []
synonym: "Facial-Oral Apraxia" EXACT []
synonym: "Facial-Oral Apraxias" EXACT []
synonym: "Gestural Apraxia" EXACT []
synonym: "Gestural Apraxias" EXACT []
synonym: "Ideational Apraxia" EXACT []
synonym: "Ideational Apraxias" EXACT []
synonym: "Motor Apraxia" EXACT []
synonym: "Motor Apraxias" EXACT []
synonym: "Oral Apraxia" EXACT []
synonym: "Oral Apraxias" EXACT []
synonym: "Oral Dyspraxia" EXACT []
synonym: "Oral Dyspraxias" EXACT []
synonym: "phonation apraxia" EXACT []
synonym: "phonation apraxias" EXACT []
synonym: "verbal apraxia" EXACT []
synonym: "verbal apraxias" EXACT []
synonym: "verbal dyspraxia" EXACT []
synonym: "verbal dyspraxias" EXACT []
xref: GARD:5838
xref: ICD10CM:R48.2
xref: MESH:D001072
xref: NCI:C180557
is_a: DOID:4090 ! agnosia
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:0060136
name: associative agnosia
def: "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060137
name: auditory agnosia
def: "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "congenital auditory agnosia" EXACT []
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060138
name: autotopagnosia
def: "An agnosia that is a loss of the ability to orient parts of the body. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060139
name: color agnosia
def: "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060140
name: cortical deafness
def: "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "central hearing loss" EXACT []
xref: MESH:D006313
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:4090 ! agnosia
is_a: DOID:9008117 ! Central Auditory Diseases

[Term]
id: DOID:0060141
name: finger agnosia
def: "An agnosia that is a loss of the ability to distinguish the fingers on the hand. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060142
name: form agnosia
def: "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060143
name: integrative agnosia
def: "An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060144
name: mirror agnosia
def: "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060145
name: pain agnosia
def: "An agnosia that is a loss of the ability to perceive and process pain. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "analgesia" EXACT []
xref: EFO:1001484
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060146
name: phonagnosia
def: "An agnosia that is a loss of the ability to recognize familiar voices. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060147
name: semantic agnosia
def: "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060148
name: simultanagnosia
def: "An agnosia that is a loss of the ability to recognize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
xref: GARD:11943
xref: MONDO:0000678
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060149
name: social emotional agnosia
def: "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "expressive agnosia" EXACT []
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060150
name: astereognosia
def: "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "somatosensory agnosia" EXACT []
synonym: "somatosensory agnosias" EXACT []
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060151
name: tactile agnosia
def: "An agnosia that is a loss of the ability to recognize or identify objects by touch alone. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "tactile agnosias" EXACT []
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060152
name: time agnosia
def: "An agnosia that is a loss of the ability to comprehend the succession and duration of events. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "time agnosias" EXACT []
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060153
name: topographical agnosia
def: "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "topographical agnosias" EXACT []
is_a: DOID:0060155 ! visual agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060154
name: verbal auditory agnosia
def: "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
is_a: DOID:4090 ! agnosia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:0060155
name: visual agnosia
def: "An agnosia that is a loss of the ability to visually recognize objects. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "monomodal visual amnesia" EXACT []
synonym: "primary visual agnosia" EXACT []
synonym: "visual agnosia for objects" EXACT []
synonym: "visual agnosias" EXACT []
synonym: "visual amnesia" EXACT []
xref: MESH:C531604
is_a: DOID:4090 ! agnosia

[Term]
id: DOID:0060156
name: visual verbal agnosia
def: "An agnosia that is a loss of the ability to comprehending the meaning of written words. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "Alexia, Pure" EXACT []
synonym: "Alexia Syndrome Without Agraphia" EXACT []
synonym: "Alexia Without Agraphia" EXACT []
synonym: "alexia without agraphias" EXACT []
synonym: "Pure Alexias" EXACT []
synonym: "Pure Alexia Without Agraphia" EXACT []
synonym: "Pure Word Blindness" EXACT []
synonym: "Pure Word Blindnesses" EXACT []
synonym: "visual verbal agnosias" EXACT []
xref: MESH:D020237
is_a: DOID:0060155 ! visual agnosia
is_a: DOID:13417 ! alexia

[Term]
id: DOID:0060157
name: diffuse alopecia areata
def: "An alopecia areata that involves diffuse loss of hair over the whole scalp. (DO)" [http://en.wikipedia.org/wiki/Alopecia_areata "DO"]
synonym: "alopecia celsi" EXACT []
synonym: "Cazenave's vitiligo" EXACT []
synonym: "Celsus' Vitiligo" EXACT []
synonym: "diffuse alopecia" EXACT []
synonym: "Jonston's Alopecia" EXACT []
synonym: "marginal alopecia" EXACT []
synonym: "patchy alopecia" EXACT []
xref: MESH:C531609
xref: MONDO:0000687
is_a: DOID:986 ! alopecia areata

[Term]
id: DOID:0060158
name: acquired metabolic disease
def: "A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. (DO)" [http://en.wikipedia.org/wiki/Inborn_error_of_metabolism "DO", http://www.ncbi.nlm.nih.gov/mesh/68008659 "DO"]
xref: EFO:1000639
is_a: DOID:0014667 ! disease of metabolism
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0060159
name: organic acidemia
def: "An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. (DO)" [http://en.wikipedia.org/wiki/Aciduria "DO"]
synonym: "organic acid metabolism disorder" EXACT []
synonym: "organic aciduria" EXACT []
xref: GARD:9433
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0060160
name: childhood spinal muscular atrophy
def: "A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. (DO)" [http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy "DO"]
synonym: "juvenile muscular atrophy" EXACT []
synonym: "juvenile spinal muscular atrophy" EXACT []
synonym: "spinal muscular atrophies of childhood" EXACT []
synonym: "spinal muscular atrophy 1" EXACT []
synonym: "spinal muscular atrophy of childhood" EXACT []
synonym: "survival motor neuron spinal muscular atrophy" EXACT []
xref: MESH:D014897
xref: NCI:C85076
xref: ORDO:70
is_a: DOID:12377 ! spinal muscular atrophy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:0060161
name: Kennedy's disease
alt_id: MESH:C537017
alt_id: MIM:313200
def: "A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. (DO)" [http://en.wikipedia.org/wiki/Kennedy_disease "DO"]
synonym: "KD" EXACT []
synonym: "Kennedy disease" EXACT []
synonym: "Kennedys disease" EXACT []
synonym: "Kennedy spinal and bulbar muscular atrophy" EXACT []
synonym: "Kennedy Syndrome" EXACT []
synonym: "SBMA" EXACT []
synonym: "SMAX1" EXACT []
synonym: "spinal and bulbar muscular atrophy" EXACT []
synonym: "spinal bulbar muscular atrophy" EXACT []
synonym: "spinobulbar muscular atrophy" EXACT []
synonym: "XBSN" EXACT []
synonym: "X-linked bulbo-spinal atrophies" EXACT []
synonym: "X-linked bulbo-spinal atrophy" EXACT []
synonym: "X linked bulbospinal muscular atrophy" EXACT []
synonym: "X-linked bulbospinal neuronopathy, recessive" EXACT []
synonym: "X-linked spinal and bulbar muscular atrophy" EXACT []
synonym: "X-linked spinal and bulbar muscular atrophy 1" EXACT []
xref: GARD:6818
xref: MESH:D055534
xref: NCI:C85233
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:12377 ! spinal muscular atrophy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:0060162
name: dentatorubral-pallidoluysian atrophy
alt_id: MIM:125370
def: "An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. (DO)" [http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy "DO"]
synonym: "ataxia, chorea, seizures, and dementia" EXACT []
synonym: "ATN1-RELATED DISORDERS" BROAD []
synonym: "congenital ATN1-related disorder" BROAD []
synonym: "DRPLA" EXACT []
synonym: "Haw River syndrome" EXACT []
synonym: "HRS" EXACT []
synonym: "myoclonic epilepsy with choreoathetosis" EXACT []
synonym: "Naito Oyanagi disease" EXACT []
xref: GARD:5643
xref: MESH:C538427
xref: NCI:C122653
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
is_a: DOID:891 ! progressive myoclonus epilepsy
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060163
name: body dysmorphic disorder
def: "A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). (DO)" [http://en.wikipedia.org/wiki/Body_dysmorphic_disorder "DO"]
synonym: "body dysmorphia" EXACT []
synonym: "body dysmorphic disorders" EXACT []
synonym: "Body Image Disfunction" EXACT []
synonym: "Body Image Disfunctions" EXACT []
synonym: "body image disorder" EXACT []
synonym: "body image disorders" EXACT []
synonym: "dysmorphic features" RELATED []
synonym: "dysmorphic syndrome" EXACT []
synonym: "dysmorphophobia" EXACT []
xref: MESH:D057215
is_a: DOID:4737 ! somatoform disorder

[Term]
id: DOID:0060164
name: pain disorder
def: "A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. (DO)" [http://en.wikipedia.org/wiki/Pain_disorder "DO"]
is_a: DOID:4737 ! somatoform disorder

[Term]
id: DOID:0060165
name: Kleine-Levin syndrome
alt_id: MIM:148840
def: "A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. (DO)" [http://en.wikipedia.org/wiki/Kleine-Levin_syndrome "DO"]
synonym: "familial hibernation (Kleine-Levin) syndrome" EXACT []
synonym: "Familial Kleine Levin Syndrome" EXACT []
synonym: "Kleine Levin Critchley Syndrome" EXACT []
synonym: "Kleine Levin Hibernation Syndrome" EXACT []
synonym: "Periodic Hypersomnia" EXACT []
synonym: "periodic hypersomnias" EXACT []
xref: EFO:1001354
xref: MESH:D017593
is_a: DOID:225 ! syndrome
is_a: DOID:8619 ! recurrent hypersomnia

[Term]
id: DOID:0060166
name: bipolar ll disorder
alt_id: DOID:0080221
alt_id: MIM:309200
def: "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. (DO)" [http://en.wikipedia.org/wiki/Bipolar_II "DO"]
synonym: "MAFD2" EXACT []
synonym: "major affective disorder 2" EXACT []
synonym: "manic-depressive illness" EXACT []
synonym: "manic-depressive psychosis, X-linked" EXACT []
synonym: "MDI" EXACT []
synonym: "MDX" EXACT []
xref: EFO:0009964
xref: MESH:C564108
is_a: DOID:3312 ! bipolar disorder
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0060167
name: seasonal affective disorder
def: "A mental depression that involves presentation of depressive symptoms only during a specific season of the year. (DO)" [http://en.wikipedia.org/wiki/Seasonal_affective_disorder "DO"]
synonym: "seasonal affective disorders" EXACT []
synonym: "seasonal mood disorder" EXACT []
synonym: "seasonal mood disorders" EXACT []
synonym: "winter depression" EXACT []
xref: MESH:D016574
is_a: DOID:1596 ! depressive disorder
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0060168
name: histidinemia
alt_id: MIM:235800
def: "A histidine metabolism disease characterized by a deficiency of the enzyme histidase. (DO)" [http://en.wikipedia.org/wiki/Histidinemia "DO", https://ghr.nlm.nih.gov/condition/histidinemia "DO"]
synonym: "deficiency in histidase" EXACT []
synonym: "HAL Deficiency" EXACT []
synonym: "HIS DEFICIENCY" EXACT []
synonym: "Histidase deficiency" EXACT []
synonym: "Histidine ammonia-lyase deficiency" EXACT []
synonym: "histidinuria" EXACT []
synonym: "hyperhistidinemia" EXACT []
synonym: "increased histidine" EXACT []
xref: GARD:6661
xref: MESH:C538320
is_a: DOID:9265 ! histidine metabolism disease

[Term]
id: DOID:0060169
name: benign familial infantile epilepsy
def: "An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12503648 "DO"]
synonym: "benign familial infantile convulsion" EXACT []
synonym: "benign familial infantile convulsions" EXACT []
synonym: "benign familial infantile convulsions syndrome" EXACT []
synonym: "benign familial infantile seizures" EXACT []
synonym: "BFIC" EXACT []
synonym: "BFIE" EXACT []
xref: GARD:1518
xref: GARD:857
xref: MIM:PS601764
xref: NCI:C183308
xref: ORDO:306
is_a: DOID:0050703 ! infancy electroclinical syndrome
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:0060170
name: generalized epilepsy with febrile seizures plus
def: "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22011963 "DO"]
synonym: "GEFS+" EXACT []
xref: ICD10CM:G40.3
xref: MESH:C565808
xref: MIM:PS604233
xref: ORDO:36387
is_a: DOID:1827 ! idiopathic generalized epilepsy
is_a: DOID:9007956 ! Febrile Seizures

[Term]
id: DOID:0060172
name: juvenile absence epilepsy
def: "An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27986418 "DO"]
synonym: "JAE" EXACT []
synonym: "juvenile absence epilepsies" EXACT []
xref: MIM:PS607631
xref: NCI:C129868
is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060173
name: Timothy syndrome
alt_id: MIM:601005
def: "A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK1403/ "DO", https://ghr.nlm.nih.gov/condition/timothy-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15863612 "DO"]
synonym: "CACNA1C-related disorder" BROAD []
synonym: "long QT syndrome with syndactyly" EXACT []
synonym: "TIMOTHY SYNDROME TYPE 1" NARROW []
synonym: "TS" EXACT []
xref: GARD:9294
xref: MESH:C536962
xref: ORDO:65283
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11193 ! syndactyly
is_a: DOID:12849 ! autistic disorder
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0060174
name: GABA aminotransferase deficiency
alt_id: MIM:613163
def: "A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. (DO)" [https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms "DO"]
synonym: "4 alpha aminobutyrate transaminase deficiency" EXACT []
synonym: "GABA-transaminase deficiency" EXACT []
synonym: "Gamma aminobutyrate transaminase deficiency" EXACT []
synonym: "gamma aminobutyric acid transaminase deficiency" EXACT []
synonym: "gamma-amino butyric acid transaminase deficiency" EXACT []
xref: MESH:C535407
is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0060175
name: succinic semialdehyde dehydrogenase deficiency
alt_id: MIM:271980
def: "A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. (DO)" [http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism "DO"]
synonym: "4-hydroxybutyric aciduria" EXACT []
synonym: "4-hydroxybutyricaciduria" EXACT []
synonym: "GABA metabolic defect" EXACT []
synonym: "gamma-hydroxybutyric acidemia" EXACT []
synonym: "gamma-hydroxybutyric aciduria" EXACT []
synonym: "SSADH" EXACT []
synonym: "SSADHD" EXACT []
synonym: "SSADH deficiency" EXACT []
synonym: "succinate-semialdehyde dehydrogenase deficiency" EXACT []
xref: MESH:C535803
is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0060176
name: gamma-amino butyric acid metabolism disorder
def: "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12891648 "DO"]
xref: RDO:9003115
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0060177
name: homocarnosinosis
alt_id: MIM:212200
alt_id: MIM:236130
def: "A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. (DO)" [http://en.wikipedia.org/wiki/Carnosinemia "DO", http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf "DO"]
synonym: "carnosinase deficiency" EXACT []
synonym: "carnosinemia" EXACT []
synonym: "homocarnosinase deficiency" EXACT []
xref: GARD:2730
xref: MESH:C535328
xref: NCI:C125661
is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn

[Term]
id: DOID:0060178
name: familial hemiplegic migraine
def: "A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. (DO)" [http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine "DO"]
synonym: "familial hemiplegic migraines" EXACT []
xref: GARD:10975
xref: ICD10CM:G43.8
xref: ICD9CM:346.8
xref: MIM:PS141500
xref: ORDO:569
is_a: DOID:10024 ! migraine with aura
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:0060179
name: Renpenning syndrome
alt_id: MIM:309500
def: "An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. (DO)" [http://en.wikipedia.org/wiki/Renpenning%27s_syndrome "DO"]
synonym: "Golabi-Ito-Hall syndrome" EXACT []
synonym: "Hamel Cerebropalatocardiac Syndrome" EXACT []
synonym: "MRX55" EXACT []
synonym: "MRXS3" EXACT []
synonym: "MRXS8" EXACT []
synonym: "Porteous Syndrome" EXACT []
synonym: "Renpenning syndrome 1" EXACT []
synonym: "RENS1" EXACT []
synonym: "SHS" EXACT []
synonym: "Sutherland-Haan syndrome" EXACT []
synonym: "Sutherland-Haan X-linked mental retardation syndrome" EXACT []
synonym: "syndromic X-linked mental retardation 8" EXACT []
synonym: "X-linked intellectual deficit due to PQBP1 mutations" EXACT []
synonym: "X-linked intellectual deficit, Renpenning type" EXACT []
synonym: "X-linked intellectual disability due to PQBP1 mutations" EXACT []
synonym: "X-linked intellectual disability, Renpenning type" EXACT []
synonym: "X-linked mental retardation, 55" EXACT []
synonym: "X-linked mental retardation Renpenning type" EXACT []
synonym: "X-linked mental retardation syndromic 3" EXACT []
synonym: "X-linked mental retardation with spastic diplegia" EXACT []
xref: ICD10CM:Q87.5
xref: MESH:C537761
xref: NCI:C165533
xref: ORDO:3242
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1969 ! cerebral palsy

[Term]
id: DOID:0060180
name: colitis
def: "An inflammatory bowel disease that involves inflammation located_in colon. (DO)" [http://en.wikipedia.org/wiki/Colitis "DO"]
synonym: "colitides" EXACT []
xref: EFO:0003872
xref: MESH:D003092
xref: NCI:C26723
is_a: DOID:0050589 ! inflammatory bowel disease
is_a: DOID:5353 ! colonic disease

[Term]
id: DOID:0060181
name: ischemic colitis
def: "A colitis caused_by inadequate blood supply to the colon. (DO)" [http://en.wikipedia.org/wiki/Ischemic_colitis "DO", http://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677 "DO"]
xref: ICD10CM:K55.9
xref: MESH:D017091
is_a: DOID:0060180 ! colitis
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:0060182
name: microscopic colitis
def: "A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. (DO)" [http://en.wikipedia.org/wiki/Microscopic_colitis "DO", http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232 "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis "DO"]
xref: EFO:1001295
xref: ICD10CM:K52.83
xref: MESH:D046728
xref: NCI:C38504
xref: ORDO:58220
is_a: DOID:0060180 ! colitis

[Term]
id: DOID:0060183
name: collagenous colitis
def: "A colitis characterized by a distinctive thickening of the subepithelial collagen table. (DO)" [http://en.wikipedia.org/wiki/Collagenous_colitis "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts "DO"]
xref: EFO:1001293
xref: GARD:6135
xref: ICD10CM:K52.831
xref: MESH:D046729
xref: NCI:C27021
is_a: DOID:0060182 ! microscopic colitis

[Term]
id: DOID:0060184
name: lymphocytic colitis
def: "A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). (DO)" [http://en.wikipedia.org/wiki/Lymphocytic_colitis "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts "DO"]
xref: EFO:1001294
xref: GARD:6939
xref: ICD10CM:K52.832
xref: MESH:D046730
xref: MONDO:0000704
xref: NCI:C27147
xref: ORDO:65279
is_a: DOID:0060182 ! microscopic colitis

[Term]
id: DOID:0060185
name: Clostridium difficile colitis
def: "A colitis characterized by an overgrowth of Clostridium difficile bacteria. (DO)" [http://en.wikipedia.org/wiki/Clostridium_difficile_colitis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000259.htm "DO"]
synonym: "antibiotic associated colitis" EXACT []
synonym: "clostridium enterocolitis" EXACT []
synonym: "pseudomembranous colitis" EXACT []
synonym: "pseudomembranous enteritis" EXACT []
synonym: "pseudomembranous enterocolitis" EXACT []
xref: EFO:1001314
xref: ICD10CM:A04.7
xref: MESH:D004761
xref: NCI:C128347
is_a: DOID:0060180 ! colitis
is_a: DOID:9002805 ! Enterocolitis
is_a: DOID:9006732 ! Clostridium Infections

[Term]
id: DOID:0060186
name: chemical colitis
def: "A colitis caused_by introduction of various chemicals. (DO)" [http://en.wikipedia.org/wiki/Chemical_colitis "DO", https://www.ncbi.nlm.nih.gov/pubmed/18209577 "DO"]
xref: ICD10CM:K52
xref: ICD9CM:558
is_a: DOID:0060180 ! colitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0060187
name: diversion colitis
def: "A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. (DO)" [http://en.wikipedia.org/wiki/Diversion_colitis "DO", https://www.ncbi.nlm.nih.gov/pubmed/1916483 "DO"]
is_a: DOID:0060180 ! colitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0060188
name: jejunoileitis
def: "An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. (DO)" [http://en.wikipedia.org/wiki/Crohn%27s_disease "DO", https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview "DO", https://www.ncbi.nlm.nih.gov/pubmed/15973125 "DO"]
xref: ICD10CM:K50.0
is_a: DOID:8778 ! Crohn's disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0060189
name: ileitis
def: "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. (DO)" [http://en.wikipedia.org/wiki/Ileitis "DO", https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview "DO"]
synonym: "Crohn's ileitis" EXACT []
xref: MESH:D007079
xref: NCI:C84782
is_a: DOID:8778 ! Crohn's disease
is_a: DOID:9001261 ! Ileal Diseases
is_a: DOID:9007156 ! Enteritis

[Term]
id: DOID:0060190
name: ileocolitis
def: "An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. (DO)" [https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview "DO"]
xref: EFO:0005624
is_a: DOID:8778 ! Crohn's disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0060191
name: gastroduodenal Crohn's disease
def: "An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. (DO)" [http://en.wikipedia.org/wiki/Crohn%27s_disease "DO", https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview "DO", https://www.ncbi.nlm.nih.gov/pubmed/12769447 "DO"]
synonym: "upper GI Crohn's disease" EXACT []
is_a: DOID:8778 ! Crohn's disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0060192
name: Crohn's colitis
def: "An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. (DO)" [http://en.wikipedia.org/wiki/Crohn%27s_disease "DO", https://www.crohnscolitisfoundation.org/what-is-crohns-disease/overview "DO"]
xref: EFO:0005622
xref: ICD10CM:K50.1
xref: ICD9CM:555.1
xref: NCI:C35211
xref: NCI:C37262
is_a: DOID:8778 ! Crohn's disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0060193
name: amyotrophic lateral sclerosis type 1
alt_id: MIM:105400
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO"]
synonym: "ALS1" EXACT []
synonym: "amyotrophic lateral sclerosis 1" EXACT []
synonym: "amyotrophic lateral sclerosis 1, autosomal dominant" NARROW []
synonym: "amyotrophic lateral sclerosis 1, autosomal recessive" NARROW []
synonym: "amyotrophic lateral sclerosis 1, familial" EXACT []
synonym: "amyotrophic lateral sclerosis, autosomal dominant" NARROW []
synonym: "amyotrophic lateral sclerosis, dominant" NARROW []
synonym: "amyotrophic lateral sclerosis, familial" EXACT []
synonym: "amyotrophic lateral sclerosis, sporadic" NARROW []
synonym: "FALS" EXACT []
synonym: "NEFH-RELATED CONDITION" RELATED []
xref: MESH:C531617
xref: NCI:C168749
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0060194
name: juvenile amyotrophic lateral sclerosis 2
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2. (DO)" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", url:http\://omim.org/entry/205100 "DO"]
synonym: "ALS2" EXACT []
synonym: "ALS2-related spectrum disorders" RELATED []
synonym: "ALSJ" BROAD []
synonym: "amyotrophic lateral sclerosis 2" EXACT []
synonym: "amyotrophic lateral sclerosis type 2" EXACT []
synonym: "juvenile ALS" BROAD []
xref: GARD:9470
xref: MESH:C565957
xref: MIM:205100
xref: MONDO:0008780
is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis

[Term]
id: DOID:0060195
name: amyotrophic lateral sclerosis type 3
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/606640 "DO"]
synonym: "ALS3" EXACT []
synonym: "amyotrophic lateral sclerosis 3" EXACT []
xref: GARD:10501
xref: MESH:C564688
xref: MIM:606640
xref: MONDO:0011691
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0060196
name: amyotrophic lateral sclerosis type 4
def: "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/602433 "DO"]
synonym: "ALS 4" EXACT []
synonym: "ALS4" EXACT []
synonym: "amyotrophic lateral sclerosis 4" EXACT []
synonym: "dHMN with upper motor neuron signs" EXACT []
synonym: "distal hereditary motor neuronopathy with pyramidal features" EXACT []
synonym: "distal hereditary motor neuropathy with pyramidal features" EXACT []
synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXACT []
synonym: "juvenile amyotrophic lateral sclerosis 4" EXACT []
synonym: "SETX-RELATED CONDITION" BROAD []
synonym: "SETX-related disorder" BROAD []
synonym: "SETX-related disorders" BROAD []
xref: GARD:10502
xref: ICD10CM:G12.2
xref: MESH:C566550
xref: MIM:602433
xref: MONDO:0011223
xref: ORDO:357043
is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis

[Term]
id: DOID:0060197
name: amyotrophic lateral sclerosis type 5
alt_id: MIM:602099
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/602099 "DO"]
synonym: "ALS5" EXACT []
synonym: "amyotrophic lateral sclerosis 5" EXACT []
synonym: "juvenile amyotrophic lateral sclerosis 5" EXACT []
xref: GARD:10503
xref: MESH:C566576
is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis

[Term]
id: DOID:0060198
name: amyotrophic lateral sclerosis type 6
alt_id: MESH:C567699
alt_id: MIM:608030
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/608030 "DO"]
synonym: "ALS6" EXACT []
synonym: "amyotrophic lateral sclerosis 6" EXACT []
synonym: "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" EXACT []
synonym: "autosomal recessive amyotrophic lateral sclerosis 6" EXACT []
synonym: "FUS-RELATED CONDITION" BROAD []
xref: GARD:9874
xref: MESH:C538251
xref: NCI:C168750
is_a: DOID:332 ! amyotrophic lateral sclerosis
is_a: DOID:9255 ! frontotemporal dementia

[Term]
id: DOID:0060199
name: amyotrophic lateral sclerosis type 7
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in SOD1 gene on chromosome 20. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/608031 "DO"]
synonym: "ALS7" EXACT []
synonym: "amyotrophic lateral sclerosis 7" EXACT []
xref: GARD:10500
xref: MESH:C564300
xref: MIM:608031
xref: MONDO:0011952
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0060200
name: amyotrophic lateral sclerosis type 9
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/611895 "DO"]
synonym: "ALS9" EXACT []
synonym: "amyotrophic lateral sclerosis 9" EXACT []
synonym: "ANG-related condition" BROAD []
xref: GARD:10498
xref: MESH:C567499
xref: MIM:611895
xref: MONDO:0012753
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0060201
name: amyotrophic lateral sclerosis type 10
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/612069 "DO"]
synonym: "ALS10" EXACT []
synonym: "amyotrophic lateral sclerosis 10" EXACT []
synonym: "AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA" EXACT []
synonym: "FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED" RELATED []
synonym: "FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED" RELATED []
synonym: "FTLD-TDP, TARDBP-related" RELATED []
synonym: "TARDBP-related condition" BROAD []
synonym: "TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions" RELATED []
xref: GARD:10497
xref: MESH:C567429
xref: MIM:612069
xref: MONDO:0012790
xref: NCI:C168752
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0060202
name: amyotrophic lateral sclerosis type 11
alt_id: MIM:612577
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/612577 "DO"]
synonym: "ALS11" EXACT []
synonym: "amyotrophic lateral sclerosis 11" EXACT []
xref: GARD:10496
xref: MESH:C567244
xref: NCI:C168753
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0060203
name: amyotrophic lateral sclerosis type 12
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/613435 "DO"]
synonym: "ALS12" EXACT []
synonym: "amyotrophic lateral sclerosis 12" EXACT []
synonym: "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia" EXACT []
xref: MIM:613435
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0060204
name: amyotrophic lateral sclerosis type 13
def: "An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/183090 "DO"]
synonym: "ALS13" EXACT [OMIM:183090]
synonym: "amyotrophic lateral sclerosis 13" EXACT [OMIM:183090]
xref: RDO:9004682
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:0060205
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 6
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/613954 "DO"]
synonym: "ALS14" EXACT []
synonym: "amyotrophic lateral sclerosis 14" EXACT []
synonym: "amyotrophic lateral sclerosis 14, with or without frontotemporal dementia" EXACT []
synonym: "amyotrophic lateral sclerosis 14 without frontotemporal dementia" EXACT []
synonym: "amyotrophic lateral sclerosis type 14" EXACT []
synonym: "amyotrophic lateral sclerosis, with or without frontotemporal dementia" EXACT []
synonym: "FTDALS6" EXACT []
xref: MIM:613954
xref: NCI:C168754
is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis

[Term]
id: DOID:0060206
name: amyotrophic lateral sclerosis type 15
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/300857 "DO"]
synonym: "ALS15" EXACT []
synonym: "amyotrophic lateral sclerosis 15" EXACT []
synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" EXACT []
xref: MIM:300857
is_a: DOID:332 ! amyotrophic lateral sclerosis
is_a: DOID:9255 ! frontotemporal dementia

[Term]
id: DOID:0060207
name: amyotrophic lateral sclerosis type 16
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/614373 "DO"]
synonym: "ALS16" EXACT []
synonym: "amyotrophic lateral sclerosis 16" EXACT []
synonym: "amyotrophic lateral sclerosis 16, juvenile" EXACT []
xref: MIM:614373
xref: MONDO:0013715
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0060209
name: amyotrophic lateral sclerosis type 18
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/614808 "DO"]
synonym: "ALS18" EXACT []
synonym: "amyotrophic lateral sclerosis 18" EXACT []
synonym: "PFN1-RELATED CONDITION" EXACT []
xref: MIM:614808
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0060210
name: amyotrophic lateral sclerosis type 19
alt_id: RDO:9000975
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/615515 "DO"]
synonym: "ALS19" EXACT []
synonym: "amyotrophic lateral sclerosis 19" EXACT []
synonym: "ERBB4-RELATED CONDITION" EXACT []
xref: MIM:615515
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0060211
name: amyotrophic lateral sclerosis type 20
alt_id: RDO:9000807
def: "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/615426 "DO"]
synonym: "ALS20" EXACT []
synonym: "amyotrophic lateral sclerosis 20" EXACT []
xref: MIM:615426
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0060212
name: amyotrophic lateral sclerosis type 21
alt_id: MIM:606070
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5. (DO)" [http://omim.org/entry/606070 "DO"]
synonym: "ALS21" EXACT []
synonym: "AMYOTROPHIC LATERAL SCLEROSIS 21" EXACT []
synonym: "amyotropic lateral sclerosis 21" EXACT []
synonym: "distal myopathy 2" EXACT []
synonym: "distal myopathy with vocal cord and pharyngeal signs" EXACT []
synonym: "Distal Myopathy with Vocal Cord Weakness" EXACT []
synonym: "Matrin 3 Distal Myopathy" EXACT []
synonym: "Mpd2" EXACT []
synonym: "Myopathia Distalis Type 2" EXACT []
synonym: "VCPDM" EXACT []
synonym: "vocal cord and pharyngeal dysfunction with distal myopathy" EXACT []
synonym: "vocal cord and pharyngeal weakness with distal myopathy" EXACT []
xref: MESH:C565262
xref: NCI:C168755
is_a: DOID:11720 ! distal myopathy
is_a: DOID:332 ! amyotrophic lateral sclerosis
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9004130 ! Pharyngeal Diseases

[Term]
id: DOID:0060213
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 1
alt_id: MIM:105550
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO)" [http://omim.org/entry/105550 "DO"]
synonym: "amyotrophic lateral sclerosis and/or frontotemporal dementia" EXACT []
synonym: "FTDALS1" EXACT []
xref: MESH:C566288
xref: NCI:C168756
is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis

[Term]
id: DOID:0060214
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 2
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO)" [http://omim.org/entry/615911 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24934289 "DO"]
synonym: "FTDALS2" EXACT []
xref: MIM:615911
is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis

[Term]
id: DOID:0060215
name: Balo concentric sclerosis
def: "A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor. (DO)" [http://en.wikipedia.org/wiki/Balo_concentric_sclerosis "DO", https://pubmed.ncbi.nlm.nih.gov/32140322/ "DO", https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110404/ "DO"]
synonym: "Balo's concentric sclerosis" EXACT []
synonym: "Balo disease" EXACT []
synonym: "Tumefactive multiple sclerosis" EXACT []
xref: GARD:5885
xref: ICD10CM:G37.0
xref: ICD9CM:341.1
xref: NCI:C84670
is_a: DOID:2377 ! multiple sclerosis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0060216
name: Cogan syndrome
def: "An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. (DO)" [http://en.wikipedia.org/wiki/Cogan_syndrome "DO"]
synonym: "Cogan's Syndrome" EXACT []
synonym: "Cogans Syndrome" EXACT []
synonym: "diffuse interstitual keratitis" RELATED []
xref: GARD:1421
xref: ICD10CM:H16.32
xref: MESH:D055952
xref: ORDO:1467
is_a: DOID:12657 ! vestibulocochlear nerve disease
is_a: DOID:225 ! syndrome
is_a: DOID:5614 ! eye disease
is_a: DOID:865 ! vasculitis

[Term]
id: DOID:0060217
name: Cogan-Reese syndrome
def: "An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. (DO)" [http://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome "DO", http://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1 "DO"]
xref: GARD:6125
xref: NCI:C84644
xref: ORDO:98980
xref: RDO:9003134
is_a: DOID:9003072 ! Iridocorneal Endothelial Syndrome
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0060218
name: CREST syndrome
def: "A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. (DO)" [http://en.wikipedia.org/wiki/CREST_syndrome "DO"]
synonym: "Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia Syndrome" EXACT []
synonym: "Calcinosis Raynaud Phenomenon Sclerodactyly Telangiectasia" EXACT []
synonym: "CREST syndromes" EXACT []
synonym: "CRST Syndrome" EXACT []
synonym: "CRST syndromes" EXACT []
xref: GARD:12430
xref: ICD10CM:M34.1
xref: MESH:D017675
xref: NCI:C70646
is_a: DOID:10300 ! Raynaud disease
is_a: DOID:1272 ! telangiectasis
is_a: DOID:1577 ! limited scleroderma
is_a: DOID:182 ! calcinosis
is_a: DOID:225 ! syndrome
is_a: DOID:9192 ! dyskinesia of esophagus

[Term]
id: DOID:0060219
name: lymph node adenoid cystic carcinoma
def: "A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193158/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021008/ "DO"]
synonym: "lymph node adenoid cystic cancer" EXACT []
is_a: DOID:0080202 ! adenoid cystic carcinoma
is_a: DOID:0080618 ! lymph node carcinoma
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0060220
name: physical urticaria
def: "An urticaria induced by external physical influences. (DO)" [http://en.wikipedia.org/wiki/Physical_urticaria "DO", http://www.dermnetnz.org/reactions/urticaria.html "DO"]
synonym: "acquired cold urticaria" NARROW []
synonym: "cold urticaria" NARROW []
xref: EFO:1000754
xref: EFO:1001871
xref: EFO:1001881
xref: RDO:9003995
is_a: DOID:1555 ! urticaria
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0060221
name: Maffucci syndrome
alt_id: RDO:9003248
def: "A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. (DO)" [http://en.wikipedia.org/wiki/Maffucci_syndrome "DO", http://ghr.nlm.nih.gov/condition/maffucci-syndrome "DO"]
synonym: "MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE" EXACT []
xref: GARD:6958
xref: MIM:614569
xref: ORDO:163634
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0060222
name: Scheie syndrome
def: "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. (DO)" [http://en.wikipedia.org/wiki/Scheie_syndrome "DO"]
synonym: "MPS1-S" EXACT []
synonym: "MPS5" EXACT []
synonym: "MPS V" EXACT []
synonym: "mucopolysaccharidosis 5" EXACT []
synonym: "mucopolysaccharidosis I S" EXACT []
synonym: "mucopolysaccharidosis Is" EXACT []
synonym: "mucopolysaccharidosis type 1S" EXACT []
synonym: "mucopolysaccharidosis type IS" EXACT []
synonym: "mucopolysaccharidosis type V" EXACT []
synonym: "Scheie's syndrome" EXACT []
xref: GARD:12561
xref: ICD10CM:E76.0
xref: MIM:607016
xref: NCI:C61265
xref: ORDO:93474
is_a: DOID:12802 ! mucopolysaccharidosis I
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060223
name: agraphia
def: "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. (DO)" [http://en.wikipedia.org/wiki/Agraphia "DO", https://www.ncbi.nlm.nih.gov/pubmed/21507544 "DO"]
synonym: "Acquired Agraphia" EXACT []
synonym: "acquired agraphias" EXACT []
synonym: "Acquired Dysgraphia" EXACT []
synonym: "acquired dysgraphias" EXACT []
synonym: "Agraphias" EXACT []
synonym: "Constructional Agraphia" EXACT []
synonym: "constructional agraphias" EXACT []
synonym: "Developmental Agraphia" EXACT []
synonym: "Developmental Agraphias" EXACT []
synonym: "Developmental Dysgraphia" EXACT []
synonym: "developmental dysgraphias" EXACT []
synonym: "pure agraphia" EXACT []
synonym: "pure agraphias" EXACT []
xref: MESH:D000381
is_a: DOID:0060047 ! writing disorder
is_a: DOID:93 ! language disorder

[Term]
id: DOID:0060224
name: atrial fibrillation
def: "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. (DO)" [http://en.wikipedia.org/wiki/Atrial_fibrillation "DO", http://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014 "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/af "DO"]
synonym: "A-fib" EXACT []
synonym: "AFib" EXACT []
synonym: "atrial fibrillation, association with" RELATED []
synonym: "atrial fibrillations" EXACT []
synonym: "ATRIAL FIBRILLATION, SOMATIC" NARROW []
synonym: "auricular fibrillation" EXACT []
synonym: "auricular fibrillations" EXACT []
synonym: "persistent atrial fibrillation" EXACT []
synonym: "persistent atrial fibrillations" EXACT []
xref: EFO:0000275
xref: ICD9CM:427.31
xref: MESH:D001281
xref: NCI:C50466
is_a: DOID:10273 ! heart conduction disease
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:0060225
name: 3MC syndrome
def: "A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16096999 "DO"]
synonym: "craniofacial-ulnar-renal syndrome" EXACT []
synonym: "Malpuech-Michels-Mingarelli-Carnevale syndrome" EXACT []
xref: GARD:1118
xref: MIM:PS257920
xref: ORDO:293843
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: rgd
creation_date: 2017-07-24T00:00:00Z

[Term]
id: DOID:0060226
name: acrofrontofacionasal dysostosis
alt_id: MIM:201180
alt_id: RDO:0004129
def: "A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. (DO)" [http://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/2986457 "DO"]
synonym: "acro fronto facio nasal dysostosis" EXACT []
synonym: "acrofrontofacionasal dysostosis 1" EXACT []
synonym: "Acrofrontofacionasal Dysostosis Syndrome" EXACT []
synonym: "AFFN dysostosis" EXACT []
synonym: "cleft lip-palate with frontonasal dysostosis and postaxial polysyndactyly" EXACT []
synonym: "polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip-palate" EXACT []
synonym: "Richieri-Costa-Colletto syndrome" EXACT []
xref: MESH:C538186
xref: ORDO:1784
is_a: DOID:1934 ! dysostosis
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:0060227
name: Adams-Oliver syndrome
def: "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. (DO)" [http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome "DO", http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/18000904 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract "DO"]
synonym: "absence defect of limbs, scalp, and skull" EXACT []
synonym: "AOS" EXACT []
synonym: "aplasia cutis congenita, congenital heart defect, and frontonasal cysts" EXACT []
synonym: "aplasia cutis congenita with terminal transverse limb defects" EXACT []
synonym: "aplasia cutis of the scalp" EXACT []
synonym: "congenital defect of skull and scalp" EXACT []
synonym: "congenital scalp defect" EXACT []
synonym: "congenital scalp defects with distal limb reduction anomalies" EXACT []
synonym: "familial aplasia cutis congenita of the scalp" EXACT []
synonym: "scalp and head syndrome" EXACT []
synonym: "scalp defects with ectrodactyly" EXACT []
xref: GARD:5739
xref: MESH:C538225
xref: MIM:PS100300
xref: ORDO:974
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:3136 ! scalp dermatosis
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:0060228
name: intracranial berry aneurysm
def: "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. (DO)" [http://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms "DO", http://radiopaedia.org/articles/saccular-cerebral-aneurysm "DO"]
synonym: "familial aneurysmal subarachnoid hemorrhage" EXACT []
synonym: "familial berry aneurysm" EXACT []
synonym: "familial intracranial saccular aneurysm" EXACT []
synonym: "saccular cerebral aneurysm" EXACT []
xref: MIM:PS105800
xref: ORDO:231160
is_a: DOID:10941 ! intracranial aneurysm
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:0060229
name: Baraitser-Winter syndrome
def: "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. (DO)" [http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome "DO"]
synonym: "cerebrofrontofacial syndrome" EXACT []
synonym: "cerebrooculofacial lymphatic syndrome" EXACT []
synonym: "Fryns-Aftimos Syndrome" EXACT []
synonym: "mental retardation with epilepsy and characteristic facies" EXACT []
synonym: "pachygyria, mental retardation, epilepsy, and characteristic facies" EXACT []
xref: GARD:5279
xref: MESH:C563904
xref: MESH:C565258
xref: MIM:PS243310
xref: ORDO:2995
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0060260 ! ptosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12270 ! coloboma
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:0060230
name: basal ganglia calcification
def: "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. (DO)" [http://en.wikipedia.org/wiki/Fahr%27s_syndrome "DO", http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract "DO"]
synonym: "Fahr disease" EXACT []
xref: MIM:PS213600
xref: NCI:C129973
xref: RDO:9004937
is_a: DOID:182 ! calcinosis
is_a: DOID:679 ! basal ganglia disease
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:0060231
name: Bruck syndrome
def: "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. (DO)" [http://en.wikipedia.org/wiki/Bruck_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/9129737 "DO"]
synonym: "osteogenesis imperfecta with congenital joint contractures" EXACT []
xref: ICD10CM:M21.8
xref: ORDO:2771
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:12347 ! osteogenesis imperfecta
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:0060232
name: branchiootic syndrome
def: "A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22901925 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract "DO"]
synonym: "BOR" EXACT []
synonym: "BO syndrome" EXACT []
synonym: "Branchiootic dysplasia" EXACT []
synonym: "INNER EAR MALFORMATION" NARROW []
xref: GARD:10148
xref: MESH:C537104
xref: ORDO:52429
is_a: DOID:14702 ! branchiootorenal syndrome

[Term]
id: DOID:0060233
name: cardiofaciocutaneous syndrome
def: "A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. (DO)" [http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome "DO", http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract "DO"]
synonym: "cardio-facial-cutaneous syndrome" EXACT []
synonym: "cardio-facio-cutaneous syndrome" EXACT []
synonym: "CFCS" EXACT []
synonym: "CFC syndrome" EXACT []
xref: GARD:9146
xref: MESH:C535579
xref: MIM:PS115150
xref: NCI:C84617
xref: ORDO:1340
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0080690 ! RASopathy
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9001276 ! Failure to Thrive
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:0060234
name: Carpenter syndrome
def: "An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. (DO)" [http://en.wikipedia.org/wiki/Carpenter_syndrome "DO", http://ghr.nlm.nih.gov/condition/carpenter-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract "DO"]
synonym: "ACPS 2" EXACT []
synonym: "ACPS II" EXACT []
synonym: "acrocephalopolysyndactyly type 2" EXACT []
synonym: "acrocephalopolysyndactyly type II" EXACT []
xref: GARD:6003
xref: MESH:C563187
xref: MIM:PS201000
xref: NCI:C98873
xref: ORDO:65759
is_a: DOID:12960 ! acrocephalosyndactylia
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:0060235
name: carnitine palmitoyltransferase II deficiency
alt_id: RDO:0000806
def: "A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. (DO)" [http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency "DO", http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency "DO"]
synonym: "CARNITINE DEFICIENCY" BROAD []
synonym: "carnitine palmitoyl transferase 2 deficiency" EXACT []
synonym: "carnitine palmitoyltransferase 2 deficiency" EXACT []
synonym: "carnitine palmitoyltransferase deficiency type 2" EXACT []
synonym: "CPT2 deficiency" EXACT []
synonym: "CPT-II" EXACT []
synonym: "CPT II deficiency" EXACT []
synonym: "infantile carnitine palmitoyltransferase II deficiency" EXACT []
synonym: "lethal neonatal carnitine palmitoyltransferase II deficiency" EXACT []
synonym: "muscle form of carnitine palmitoyltransferase deficiency" EXACT []
xref: MESH:C535589
xref: NCI:C114766
xref: ORDO:157
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:0060236
name: xanthinuria
def: "A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. (DO)" [http://en.wikipedia.org/wiki/Xanthinuria "DO", https://medlineplus.gov/genetics/condition/hereditary-xanthinuria/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/4369449 "DO"]
synonym: "classic xanthinuria" EXACT []
synonym: "deficiency of xanthine oxidase" EXACT []
synonym: "hereditary xanthinuria" EXACT []
synonym: "xanthine dehydrogenase deficiency" EXACT []
synonym: "xanthine oxidase deficiency" EXACT []
synonym: "XDH deficiency" EXACT []
xref: MIM:PS278300
xref: ORDO:3467
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:653 ! purine-pyrimidine metabolic disorder
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:0060237
name: Warburg micro syndrome
alt_id: OMIA:001970
def: "A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. (DO)" [http://en.wikipedia.org/wiki/Micro_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/22768674 "DO"]
synonym: "micro syndrome" EXACT []
synonym: "polyneuropathy, ocular abnormalities and neuronal vacuolation" EXACT []
synonym: "WARBM" EXACT []
synonym: "Warburg Sjo Fledelius syndrome" EXACT []
xref: MESH:C536681
xref: MIM:PS600118
xref: ORDO:2510
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:5723 ! optic atrophy
is_a: DOID:83 ! cataract
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060238
name: Van Maldergem syndrome
def: "A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1633641 "DO"]
synonym: "Cerebrofacioarticular syndrome" EXACT []
synonym: "cerebro-facio-articular syndrome" EXACT []
synonym: "Cerebro-facio-articular syndrome of Van Maldergem" EXACT []
synonym: "Van Maldergem Wetzburger Verloes syndrome" EXACT []
xref: GARD:5456
xref: MESH:C536530
xref: MIM:PS601390
xref: ORDO:314679
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9005077 ! Joint Instability
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060239
name: Van der Woude syndrome
alt_id: MIM:119300
def: "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. (DO)" [http://en.wikipedia.org/wiki/Van_der_Woude_syndrome "DO", http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome "DO"]
synonym: "Cleft lip and-or palate with mucous cysts of lower lip" EXACT []
synonym: "Lip pit syndrome" EXACT []
synonym: "LPS" EXACT []
synonym: "PIT" EXACT []
synonym: "VAN DER WOUDE SYNDROME 1" EXACT []
synonym: "VDWS" EXACT []
synonym: "VWS1" EXACT []
xref: GARD:8414
xref: ICD10CM:Q38.0
xref: MESH:C536528
xref: NCI:C74986
xref: ORDO:888
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9007583 ! Cysts
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:0060240
name: UV-sensitive syndrome
def: "A skin disease characterized by photosensitivity and liver spots (solar lentigines). (DO)" [http://en.wikipedia.org/wiki/UV-sensitive_syndrome "DO", http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome "DO"]
xref: MESH:C563466
xref: MIM:PS600630
xref: ORDO:178338
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:3159 ! photosensitivity disease

[Term]
id: DOID:0060241
name: 3-M syndrome
def: "A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. (DO)" [http://en.wikipedia.org/wiki/3-M_syndrome "DO", http://ghr.nlm.nih.gov/condition/3-m-syndrome "DO"]
synonym: "3M syndrome" EXACT []
synonym: "dolichospondylic dysplasia" EXACT []
synonym: "Gloomy Face Syndrome" EXACT []
synonym: "GLOOMY FACE SYNDROME  YAKUT SHORT STATURE SYNDROME" NARROW []
synonym: "Le Merrer syndrome" EXACT []
synonym: "Miller-McKusick-Malvaux syndrome" EXACT []
synonym: "Miller-McKusick-Malvaux-Syndrome (3M Syndrome)" EXACT []
synonym: "Three-M Slender-Boned Nanism" EXACT []
synonym: "three-M syndrome" EXACT []
synonym: "Yakut short stature syndrome" EXACT []
xref: GARD:5667
xref: MESH:C535314
xref: MIM:PS273750
xref: ORDO:2616
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0060242
name: synpolydactyly
def: "A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. (DO)" [http://en.wikipedia.org/wiki/Synpolydactyly "DO", https://www.ncbi.nlm.nih.gov/pubmed/18177473 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8817328 "DO"]
synonym: "syndactyly type 2" EXACT []
xref: GARD:5087
xref: NCI:C75003
xref: ORDO:295195
xref: ORDO:93403
is_a: DOID:11193 ! syndactyly
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:0060243
name: stuttering
def: "An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. (DO)" [http://en.wikipedia.org/wiki/Stuttering "DO", http://www.asha.org/public/speech/disorders/stuttering.htm "DO", http://www.merriam-webster.com/dictionary/stutter "DO"]
synonym: "acquired stuttering" EXACT []
synonym: "adult stuttering" EXACT []
synonym: "childhood stuttering" EXACT []
synonym: "developmental stuttering" EXACT []
synonym: "familial persistent stuttering" EXACT []
synonym: "stammering" EXACT []
xref: ICD10CM:F80.81
xref: MESH:D013342
xref: MIM:PS184450
xref: NCI:C35043
is_a: DOID:4186 ! articulation disorder

[Term]
id: DOID:0060244
name: specific language impairment
def: "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. (DO)" [http://en.wikipedia.org/wiki/Specific_language_impairment "DO", https://www.ncbi.nlm.nih.gov/pubmed/19646677 "DO"]
synonym: "specific language disorder" EXACT []
synonym: "specific language disorders" EXACT []
xref: EFO:1001510
xref: MESH:D000080888
xref: MIM:PS606711
is_a: DOID:9005466 ! Language Development Disorders
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:0060245
name: MAST syndrome
alt_id: MIM:248900
def: "A hereditary spastic paraplegia associated with dementia. (DO)" [http://ghr.nlm.nih.gov/gene/SPG21 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6024251 "DO"]
synonym: "autosomal recessive spastic paraplegia 21" EXACT []
synonym: "autosomal recessive spastic paraplegia type 21" EXACT []
synonym: "hereditary spastic paraplegia 21" EXACT []
synonym: "SPG21" EXACT []
xref: MESH:C565409
xref: ORDO:101001
is_a: DOID:1307 ! dementia
is_a: DOID:225 ! syndrome
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0060246
name: MASA syndrome
alt_id: MIM:303350
def: "A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. (DO)" [http://en.wikipedia.org/wiki/MASA_syndrome "DO", http://ghr.nlm.nih.gov/condition/l1-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract "DO"]
synonym: "adducted thumb with mental retardation" EXACT []
synonym: "clasped thumb and mental retardation" EXACT []
synonym: "congenital clasped thumb with mental retardation" EXACT []
synonym: "Crash syndrome" EXACT []
synonym: "Gareis-Mason syndrome" EXACT []
synonym: "hereditary spastic paraplegia 1" EXACT []
synonym: "L1 syndrome" EXACT []
synonym: "MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome" EXACT []
synonym: "Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA)" EXACT []
synonym: "Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs" EXACT []
synonym: "SPASTIC PARAPLEGIA 1, X-LINKED" EXACT []
synonym: "Spastic paraplegia, type 1" EXACT []
synonym: "Spg1" EXACT []
synonym: "X-linked complicated hereditary spastic paraplegia type 1" EXACT []
synonym: "X-linked corpus callosum agenesis" EXACT []
synonym: "X-linked hydrocephalus syndrome" EXACT []
synonym: "X-linked hydrocephalus with stenosis of the aqueduct of sylvius (Hsas)" EXACT []
xref: GARD:6986
xref: MESH:C536029
xref: NCI:C129930
xref: ORDO:2466
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0060247
name: Smith-McCort dysplasia
def: "A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. (DO)" [https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/1216821 "DO"]
synonym: "SMC" EXACT []
xref: GARD:10620
xref: MESH:C564589
xref: MIM:PS607326
xref: ORDO:178355
is_a: DOID:0111167 ! Dyggve-Melchior-Clausen disease

[Term]
id: DOID:0060248
name: Simpson-Golabi-Behmel syndrome type 1
alt_id: MIM:312870
def: "A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. (DO)" [http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome "DO", http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/36720533/ "DO"]
synonym: "bulldog syndrome" EXACT []
synonym: "DGSX" EXACT []
synonym: "DGSX Golabi-Rosen syndrome" EXACT []
synonym: "dysplasia gigantism syndrome, X-linked" EXACT []
synonym: "Golabi-Rosen syndrome" EXACT []
synonym: "mental retardation-overgrowth syndrome" EXACT []
synonym: "Sara Angers syndrome" EXACT []
synonym: "SDYS" EXACT []
synonym: "SGBS" EXACT []
synonym: "SGBS1" EXACT []
synonym: "SGB syndrome" EXACT []
synonym: "Simpson dysmorphia syndrome" EXACT []
synonym: "Simpson dysplasia syndrome" EXACT []
synonym: "Simpson-Golabi-Behmel syndrome" EXACT []
synonym: "Simpson syndrome" EXACT []
xref: GARD:7649
xref: MESH:C537340
xref: NCI:C118787
xref: ORDO:373
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000064 ! Cardiac Arrhythmias
is_a: DOID:9006084 ! Gigantism

[Term]
id: DOID:0060249
name: scoliosis
def: "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. (DO)" [http://en.wikipedia.org/wiki/Scoliosis "DO", http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140 "DO"]
synonym: "congenital scoliosis" NARROW []
synonym: "scolioses" EXACT []
xref: EFO:0004273
xref: ICD10CM:M41.9
xref: MESH:D012600
xref: MONDO:0005392
xref: NCI:C78603
is_a: DOID:0080010 ! bone structure disease
is_a: DOID:9002608 ! Spinal Curvatures

[Term]
id: DOID:0060250
name: idiopathic scoliosis
def: "A scoliosis with no known cause. (DO)" [http://en.wikipedia.org/wiki/Scoliosis "DO"]
synonym: "ADOLESCENT IDIOPATHIC SCOLIOSIS" NARROW []
synonym: "ADOLESCENT ISOLATED SCOLIOSIS" NARROW []
synonym: "AIS" NARROW []
synonym: "idiopathic scoliosis, 3" RELATED []
synonym: "IS1" RELATED []
synonym: "IS2" RELATED []
synonym: "IS3" RELATED []
synonym: "IS4" RELATED []
synonym: "IS5" RELATED []
synonym: "Isolated Scoliosis, Susceptibility to, 1" RELATED []
synonym: "Isolated Scoliosis, Susceptibility to, 2" RELATED []
synonym: "Isolated Scoliosis, Susceptibility to, 3" RELATED []
synonym: "Isolated Scoliosis, Susceptibility to, 4" RELATED []
synonym: "Isolated Scoliosis, Susceptibility to, 5" RELATED []
xref: EFO:0005423
xref: GARD:552
xref: MIM:181800
xref: MIM:607354
xref: MIM:608765
xref: MIM:612238
xref: MIM:612239
xref: MONDO:0000726
is_a: DOID:0060249 ! scoliosis
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060251
name: sclerosteosis
alt_id: RDO:0003382
def: "A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. (DO)" [http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance "DO", https://www.ncbi.nlm.nih.gov/pubmed/11836356 "DO"]
synonym: "Cortical hyperostosis with syndactyly" EXACT []
synonym: "SOST" EXACT []
xref: GARD:4771
xref: MESH:C537525
xref: MIM:PS269500
xref: NCI:C131133
is_a: DOID:11193 ! syndactyly
is_a: DOID:205 ! hyperostosis

[Term]
id: DOID:0060252
name: sclerocornea
def: "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. (DO)" [http://en.wikipedia.org/wiki/Sclerocornea "DO", https://www.ncbi.nlm.nih.gov/pubmed/3994576 "DO"]
synonym: "isolated congenital sclerocornea" EXACT []
synonym: "SCLEROCORNEA, AUTOSOMAL RECESSIVE" NARROW []
xref: MESH:C565209
xref: ORDO:91490
xref: RDO:0013918
is_a: DOID:10124 ! corneal disease

[Term]
id: DOID:0060253
name: scapuloperoneal myopathy
def: "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28179901 "DO"]
synonym: "MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY" NARROW []
synonym: "scapuloperoneal muscular dystrophy" EXACT []
synonym: "scapuloperoneal syndrome, myopathic type" EXACT []
xref: MESH:C536624
is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy

[Term]
id: DOID:0060254
name: Robinow syndrome
alt_id: RDO:0012199
def: "A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. (DO)" [http://en.wikipedia.org/wiki/Robinow_syndrome "DO", http://ghr.nlm.nih.gov/condition/robinow-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract "DO"]
synonym: "acral dysostosis with facial and genital abnormalities" EXACT []
synonym: "autosomal dominant Robinow syndrome" EXACT []
synonym: "fetal face syndrome" EXACT []
synonym: "mesomelic dwarfism-small genitalia syndrome" EXACT []
synonym: "Robinow dwarfism" EXACT []
synonym: "Robinow-Silverman-Smith syndrome" EXACT []
xref: GARD:312
xref: MESH:C562492
xref: MIM:PS268310
xref: NCI:C85048
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060255
name: rippling muscle disease 2
alt_id: DOID:0110302
alt_id: MIM:606072
def: "A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. (DO)" [http://ghr.nlm.nih.gov/condition/rippling-muscle-disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/9537420 "DO"]
synonym: "autosomal dominant limb-girdle muscular dystrophy type 1C" EXACT []
synonym: "caveolinopathy" EXACT []
synonym: "LGMD1C" EXACT []
synonym: "limb-girdle muscular dystrophy due to caveolin-3 deficiency" EXACT []
synonym: "limb-girdle muscular dystrophy type 1C" EXACT []
synonym: "limb-girdle muscular dystrophy type 1C, autosomal recessive" EXACT []
synonym: "muscular dystrophy limb-girdle type IC" EXACT []
synonym: "rippling muscle disease 2, autosomal recessive" NARROW []
synonym: "RMD" EXACT []
synonym: "RMD2" EXACT []
xref: GARD:9164
xref: MESH:C563362
xref: NCI:C148318
xref: NCI:C148325
xref: ORDO:265
xref: ORDO:97238
is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy

[Term]
id: DOID:0060256
name: Dowling-Degos disease
def: "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. (DO)" [http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures "DO", http://ghr.nlm.nih.gov/condition/dowling-degos-disease "DO"]
synonym: "acropigmentatio reticularis" EXACT []
synonym: "dark dot disease" EXACT []
synonym: "DDD" EXACT []
synonym: "Dowling-Degos-Kitamura disease" EXACT []
synonym: "reticular pigment anomaly of flexures" EXACT []
synonym: "RPK" EXACT []
xref: GARD:9775
xref: MESH:C562924
xref: MIM:PS179850
xref: ORDO:79145
is_a: DOID:9003984 ! Hyperpigmentation
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9008246 ! Papulosquamous Skin Diseases

[Term]
id: DOID:0060257
name: dyschromatosis symmetrica hereditaria
def: "A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. (DO)" [http://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria "DO", https://www.ncbi.nlm.nih.gov/pubmed/22974014 "DO"]
synonym: "DSH" EXACT []
synonym: "DSH1" EXACT []
synonym: "Dyschromatosis Symmetrica Hereditaria 1" EXACT []
synonym: "Familial reticulate acropigmentation of Dohi" EXACT []
synonym: "RAD" EXACT []
synonym: "reticulate acropigmentation of Dohi" EXACT []
synonym: "symmetrical dyschromatosis of extremities" EXACT []
synonym: "symmetric dyschromatosis of the extremities" EXACT []
xref: MESH:C535729
xref: MIM:127400
xref: MONDO:0007483
xref: NCI:C118435
xref: ORDO:41
is_a: DOID:10123 ! pigmentation disease

[Term]
id: DOID:0060258
name: reticulate acropigmentation of Kitamura
def: "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22808308 "DO"]
synonym: "Acropigmentatio Reticularis" EXACT []
synonym: "Kitamura Reticulate Acropigmentation" EXACT []
synonym: "RAK" EXACT []
synonym: "RAPK" EXACT []
synonym: "Reticulate Pigmentation of Kitamura" EXACT []
synonym: "RPK" EXACT []
xref: MIM:615537
xref: ORDO:178307
is_a: DOID:0060256 ! Dowling-Degos disease

[Term]
id: DOID:0060259
name: renal-hepatic-pancreatic dysplasia
def: "A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. (DO)" [http://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/17605805 "DO"]
synonym: "Ivemark's syndrome" EXACT []
synonym: "RHPD" EXACT []
xref: MESH:C567142
xref: MIM:PS208540
xref: ORDO:294415
is_a: DOID:26 ! pancreas disease
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:409 ! liver disease
is_a: DOID:758 ! situs inversus
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060260
name: ptosis
def: "An eye disease characterized by the drooping or falling of the upper or lower eyelid. (DO)" [http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 "DO"]
synonym: "blepharoptoses" EXACT []
synonym: "blepharoptosis" EXACT []
synonym: "drooping eyelid" EXACT []
synonym: "Eyelid Ptoses" EXACT []
synonym: "eyelid ptosis" EXACT []
xref: ICD10CM:H02.4
xref: ICD9CM:374.3
xref: MESH:D001763
xref: NCI:C27298
is_a: DOID:530 ! eyelid disease

[Term]
id: DOID:0060261
name: congenital ptosis
def: "A ptosis characterized by eyelid drop present at birth. (DO)" [http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 "DO", https://eyewiki.aao.org/Ptosis\,_Congenital "DO"]
xref: ICD10CM:Q10.0
xref: ICD9CM:743.61
xref: NCI:C27049
is_a: DOID:0060260 ! ptosis
is_a: DOID:0080015 ! physical disorder
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060262
name: gallbladder disease
alt_id: RDO:0002740
def: "A gastrointestinal system disease that is located_in the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Gallbladder_disease "DO", http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C34631&ns=NCI_Thesaurus&key=n1027527578&b=1&n=null "DO"]
synonym: "gall bladder disease" EXACT []
synonym: "Gall Bladder Diseases" EXACT []
synonym: "gallbladder diseases" EXACT []
xref: EFO:0003832
xref: ICD10CM:K82.9
xref: ICD9CM:575.9
xref: MESH:D005705
xref: MIM:PS600803
xref: NCI:C34631
is_a: DOID:9741 ! biliary tract disease

[Term]
id: DOID:0060263
name: porencephaly
def: "A brain disease that is characterized by encephalomalacia and cystic brain lesions. (DO)" [https://en.wikipedia.org/wiki/Cerebral_softening "DO", https://en.wikipedia.org/wiki/Porencephaly "DO"]
synonym: "ADT1P" EXACT []
synonym: "autosomal dominant porencephaly type 1" EXACT []
synonym: "congenital porencephaly" EXACT []
synonym: "developmental porencephaly" EXACT []
synonym: "encephaloclastic porencephaly" EXACT []
synonym: "Familial Porencephalic White Matter Disease" EXACT []
synonym: "Familial Porencephaly" EXACT []
synonym: "HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1" EXACT []
synonym: "Infantile Hemiplegia with Porencephaly" EXACT []
synonym: "POREN1" EXACT []
synonym: "porencephalies" EXACT []
synonym: "porencephaly 1" EXACT []
synonym: "porencephaly type 1" EXACT []
synonym: "post traumatic porencephaly" EXACT []
synonym: "T1P" EXACT []
xref: GARD:7430
xref: ICD10CM:Q04.6
xref: MESH:D065708
xref: ORDO:2940
is_a: DOID:10907 ! microcephaly
is_a: DOID:9001684 ! Malformations of Cortical Development, Group III

[Term]
id: DOID:0060264
name: pontocerebellar hypoplasia
def: "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. (DO)" [https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition "DO"]
synonym: "congenital pontocerebellar hypoplasia" EXACT []
synonym: "HEATR5B-ASSOCIATED PONTOCEREBELLAR HYPOPLASIA" NARROW []
synonym: "PCH" EXACT []
xref: GARD:10977
xref: MESH:C580383
xref: MIM:PS607596
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:2786 ! cerebellar disease

[Term]
id: DOID:0060265
name: pontocerebellar hypoplasia type 1A
def: "A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene. (DO)" [https://www.omim.org/entry/607596 "DO"]
synonym: "CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 1" BROAD []
synonym: "DISTAL HEREDITARY MOTOR NEUROPATHY ASSOCIATED WITH UPPER MOTOR NEURON SIGNS" RELATED []
synonym: "PCH1A" EXACT []
synonym: "pontocerebellar hypoplasia with anterior horn cell disease" EXACT []
synonym: "pontocerebellar hypoplasia with infantile spinal muscular atrophy" EXACT []
xref: MIM:607596
xref: ORDO:2254
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1

[Term]
id: DOID:0060266
name: pontocerebellar hypoplasia type 1B
def: "A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. (DO)" [https://www.omim.org/entry/614678 "DO"]
synonym: "NON-SYNDROMIC PONTOCEREBELLAR HYPOPLASIA" BROAD []
synonym: "PCH1B" EXACT []
xref: MIM:614678
xref: NCI:C190872
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1

[Term]
id: DOID:0060267
name: pontocerebellar hypoplasia type 2A
def: "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)" [https://www.omim.org/entry/277470 "DO"]
synonym: "PCH2A" EXACT []
synonym: "Pontocerebellar Hypoplasia with Progressive Cerebral Atrophy" EXACT []
synonym: "Volendam Neurodegenerative Disease" EXACT []
xref: GARD:3631
xref: MESH:C564738
xref: MIM:277470
xref: MONDO:0010190
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2

[Term]
id: DOID:0060268
name: pontocerebellar hypoplasia type 2B
def: "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene. (DO)" [https://www.omim.org/entry/612389 "DO"]
synonym: "PCH2B" EXACT []
xref: MESH:C567325
xref: MIM:612389
xref: MONDO:0012890
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2

[Term]
id: DOID:0060269
name: pontocerebellar hypoplasia type 2C
alt_id: MIM:612390
def: "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene. (DO)" [https://www.omim.org/entry/612390 "DO"]
synonym: "PCH2C" EXACT []
xref: MESH:C567324
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2

[Term]
id: DOID:0060270
name: pontocerebellar hypoplasia type 2D
def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. (DO)" [https://www.omim.org/entry/613811 "DO"]
synonym: "CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE" EXACT []
synonym: "PCCA" EXACT []
synonym: "PCH2D" EXACT []
xref: MIM:613811
xref: ORDO:2524
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2

[Term]
id: DOID:0060271
name: pontocerebellar hypoplasia type 2E
def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene. (DO)" [https://www.omim.org/entry/615851 "DO"]
synonym: "PCH2E" EXACT []
xref: MIM:615851
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2

[Term]
id: DOID:0060272
name: pontocerebellar hypoplasia type 3
alt_id: MIM:608027
def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene. (DO)" [https://www.omim.org/entry/608027 "DO"]
synonym: "cerebellar atrophy with progressive microcephaly" EXACT []
synonym: "CLAM" EXACT []
synonym: "PCH3" EXACT []
synonym: "PCH with optic atrophy" EXACT []
synonym: "PCLO-RELATED CONDITION" EXACT []
xref: GARD:10708
xref: MESH:C548072
xref: ORDO:97249
is_a: DOID:0060264 ! pontocerebellar hypoplasia

[Term]
id: DOID:0060273
name: pontocerebellar hypoplasia type 4
alt_id: MIM:225753
def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)" [https://www.omim.org/entry/225753 "DO"]
synonym: "fatal infantile encephalopathy with olivopontocerebellar hypoplasia" EXACT []
synonym: "olivopontocerebellar hypoplasia lethal type" EXACT []
synonym: "PCH4" EXACT []
synonym: "Young McKeever Squier syndrome" EXACT []
xref: GARD:343
xref: MESH:C536716
xref: ORDO:166063
is_a: DOID:0060264 ! pontocerebellar hypoplasia

[Term]
id: DOID:0060274
name: pontocerebellar hypoplasia type 5
def: "A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)" [https://www.omim.org/entry/610204 "DO"]
synonym: "fetal-onset olivopontocerebellar hypoplasia" EXACT []
synonym: "PCH5" EXACT []
xref: GARD:10709
xref: MESH:C537745
xref: MIM:610204
xref: MONDO:0012438
xref: ORDO:166068
is_a: DOID:0060264 ! pontocerebellar hypoplasia

[Term]
id: DOID:0060275
name: pontocerebellar hypoplasia type 6
alt_id: MIM:611523
def: "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene. (DO)" [https://www.omim.org/entry/611523 "DO"]
synonym: "fatal infantile encephalopathy with mitochondrial respiratory chain defects" EXACT []
synonym: "PCH6" EXACT []
synonym: "RARS2-RELATED CONDITION" EXACT []
xref: GARD:10710
xref: MESH:C548074
xref: ORDO:166073
is_a: DOID:0060264 ! pontocerebellar hypoplasia

[Term]
id: DOID:0060276
name: pontocerebellar hypoplasia type 7
def: "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene. (DO)" [https://www.omim.org/entry/614969 "DO", MIM:614969]
synonym: "PCH7" EXACT []
xref: MIM:614969
xref: MONDO:0013993
xref: ORDO:284339
is_a: DOID:0060264 ! pontocerebellar hypoplasia

[Term]
id: DOID:0060277
name: pontocerebellar hypoplasia type 8
def: "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene. (DO)" [https://www.omim.org/entry/614961 "DO"]
synonym: "PCH8" EXACT []
xref: MIM:614961
xref: ORDO:324569
is_a: DOID:0060264 ! pontocerebellar hypoplasia

[Term]
id: DOID:0060278
name: pontocerebellar hypoplasia type 9
def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene. (DO)" [https://www.omim.org/entry/615809 "DO"]
synonym: "PCH9" EXACT []
xref: MIM:615809
xref: MONDO:0014351
xref: ORDO:369920
is_a: DOID:0060264 ! pontocerebellar hypoplasia

[Term]
id: DOID:0060279
name: pontocerebellar hypoplasia type 10
alt_id: RDO:9001048
def: "A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene. (DO)" [https://www.omim.org/entry/615803 "DO"]
synonym: "PCH10" EXACT []
xref: MIM:615803
xref: ORDO:411493
is_a: DOID:0060264 ! pontocerebellar hypoplasia

[Term]
id: DOID:0060280
name: primary pigmented nodular adrenocortical disease
def: "An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2212318 "DO"]
synonym: "PPNAD" EXACT []
xref: GARD:10906
xref: MIM:PS610489
xref: MONDO:0015999
xref: ORDO:189439
xref: ORDO:647772
is_a: DOID:3952 ! adrenal cortex disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060281
name: photosensitive epilepsy
def: "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. (DO)" [http://en.wikipedia.org/wiki/Photosensitive_epilepsy "DO"]
synonym: "photogenic epilepsy" EXACT []
synonym: "photoparoxysmal response" EXACT []
synonym: "photosensitive epilepsies" EXACT []
synonym: "PSE" EXACT []
xref: GARD:5648
xref: MIM:PS132100
xref: ORDO:166409
xref: RDO:9004946
is_a: DOID:2548 ! reflex epilepsy
is_a: DOID:3159 ! photosensitivity disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060282
name: persistent hyperplastic primary vitreous
def: "A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development. (DO)" [https://en.wikipedia.org/wiki/Persistent_hyperplastic_primary_vitreous "DO"]
synonym: "persistent fetal vasculature syndrome" EXACT []
synonym: "persistent hyaloid arteries" EXACT []
synonym: "Persistent Hyaloid Artery" EXACT []
synonym: "persistent hyaloid vasculature" EXACT []
synonym: "persistent hyaloid vasculatures" EXACT []
xref: MESH:D054514
xref: MIM:PS221900
xref: NCI:C161554
xref: ORDO:91495
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9720 ! vitreous disease

[Term]
id: DOID:0060283
name: peeling skin syndrome
def: "A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. (DO)" [https://rarediseases.org/rare-diseases/peeling-skin-syndrome/ "DO"]
synonym: "deciduous skin" EXACT []
synonym: "familial continuous generalized skin peeling" EXACT []
synonym: "familial continuous skin peeling syndrome" EXACT []
synonym: "keratolysis exfoliativa congenita" EXACT []
synonym: "keratosis exfoliativa congenita" EXACT []
synonym: "peeling skin disease" EXACT []
synonym: "PSS" EXACT []
xref: GARD:7347
xref: MESH:C564818
xref: MIM:PS270300
xref: ORDO:263543
xref: ORDO:817
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006215 ! Exfoliative Dermatitis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0060284
name: paroxysmal nocturnal hemoglobinuria
alt_id: MIM:615749
def: "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system. (DO)" [https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria "DO"]
synonym: "C5-RELATED CONDITION" BROAD []
synonym: "cold paroxysmal hemoglobinuria" EXACT []
synonym: "ECULIZUMAB, POOR RESPONSE TO" RELATED []
synonym: "Marchiafava Micheli Syndrome" EXACT []
synonym: "paroxysmal hemoglobinuria" EXACT []
xref: GARD:7337
xref: ICD10CM:D59.5
xref: ICD10CM:D59.6
xref: MESH:D006457
xref: MIM:PS300818
xref: NCI:C61233
xref: ORDO:447
is_a: DOID:0050908 ! myelodysplastic syndrome
is_a: DOID:582 ! hemoglobinuria

[Term]
id: DOID:0060285
name: parietal foramina
def: "An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene. (DO)" [https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina "DO"]
synonym: "Caitlin marks" EXACT []
synonym: "Catlin marks" EXACT []
synonym: "Cranium Bifidum, Hereditary" EXACT []
synonym: "Cranium Bifidum Occultum" EXACT []
synonym: "Enlarged Parietal Foramina" EXACT []
synonym: "foramina parietalia permagna" EXACT []
synonym: "FPP" EXACT []
synonym: "PFM" EXACT []
synonym: "symmetric parietal foramina" EXACT []
xref: MESH:C566826
xref: MIM:PS168500
xref: MONDO:0018953
xref: ORDO:60015
is_a: DOID:0080074 ! neural tube defect
is_a: DOID:9000983 ! Encephalocele

[Term]
id: DOID:0060286
name: combined oxidative phosphorylation deficiency
def: "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. (DO)" [https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency "DO"]
xref: GARD:12893
xref: MIM:PS609060
is_a: DOID:700 ! mitochondrial metabolism disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060287
name: cornea plana
def: "A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D. (DO)" [https://disorders.eyes.arizona.edu/handouts/cornea-plana "DO"]
synonym: "flat cornea" EXACT []
xref: MIM:PS121400
xref: MONDO:0000733
xref: ORDO:53691
is_a: DOID:10124 ! corneal disease
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:0060288
name: omodysplasia
def: "An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12210345/ "DO"]
xref: MIM:PS258315
xref: ORDO:2733
is_a: DOID:2256 ! osteochondrodysplasia
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:0060289
name: Ohdo syndrome
def: "A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16700052/ "DO"]
synonym: "Blepharophimosis Syndrome Ohdo Type" EXACT []
synonym: "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth" EXACT []
synonym: "Ohdo Blepharophimosis syndrome" EXACT []
synonym: "Ohdo Madokoro Sonoda syndrome" EXACT []
synonym: "tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality" EXACT []
xref: GARD:3348
xref: MESH:C536232
xref: MESH:C537838
xref: MIM:249620
xref: ORDO:2728
is_a: DOID:0060260 ! ptosis
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9000545 ! Ectromelia

[Term]
id: DOID:0060290
name: Ohdo syndrome, SBBYS variant
def: "A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22077973/ "DO", https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes "DO"]
synonym: "autosomal dominant KAT6B-related disorders" BROAD []
synonym: "blepharophimosis and mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type" EXACT []
synonym: "blepharophimosis-intellectual deficit syndrome, Say-Barber-Biesecker-Young-Simpson type" EXACT []
synonym: "BLEPHAROPHIMOSIS - INTELLECTUAL DISABILITY SYNDROME" EXACT []
synonym: "blepharophimosis-intellectual disability syndrome, SBBYS type" EXACT []
synonym: "KAT6B-RELATED SPECTRUM DISORDER" BROAD []
synonym: "KAT6B-RELATED SPECTRUM DISORDERS" BROAD []
synonym: "Mental retardation unusual facies hypothyroidism" EXACT []
synonym: "Ohdo Syndrome, Say-Barber-Biesecker Variant" EXACT []
synonym: "Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant" EXACT []
synonym: "Say-Barber-Biesecker-Young-Simpson syndrome" EXACT []
synonym: "Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome" EXACT []
synonym: "SBBYSS" EXACT []
synonym: "SBBYS variant of Ohdo syndrome" EXACT []
synonym: "Young Simpson syndrome" EXACT []
synonym: "YSS" EXACT []
xref: MESH:C536717
xref: MIM:603736
xref: MONDO:0011365
xref: ORDO:3047
is_a: DOID:0050328 ! congenital hypothyroidism
is_a: DOID:0060289 ! Ohdo syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9005077 ! Joint Instability

[Term]
id: DOID:0060291
name: oculodentodigital dysplasia
alt_id: MIM:164200
def: "A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. (DO)" [http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia "DO", https://en.wikipedia.org/wiki/Oculodentodigital_dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/12021949 "DO"]
synonym: "oculo-dento-digital dysplasia" EXACT []
synonym: "Oculodentodigital Syndrome" EXACT []
synonym: "Oculo-Dento-Osseous Dysplasia" EXACT []
synonym: "Oculodentoosseous Dysplasia" EXACT []
synonym: "ODDD" EXACT []
synonym: "ODD Syndrome" EXACT []
synonym: "ODOD" EXACT []
synonym: "osseous-oculo-dental dysplasia" EXACT []
xref: GARD:7239
xref: MESH:C563160
xref: ORDO:2710
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:0060292
name: X-linked chondrodysplasia punctata 1
alt_id: MIM:302950
alt_id: MIM:602497
def: "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22. (DO)" [https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata "DO"]
synonym: "arylsulfatase E deficiency" EXACT []
synonym: "Brachytelephalangic Chondrodysplasia Punctata" EXACT []
synonym: "brachytelephalangic chondrodysplasia punctata, autosomal" RELATED []
synonym: "CDPX1" EXACT []
synonym: "chondrodystrophia calcificans congenita" EXACT []
synonym: "CPXR" EXACT []
synonym: "X-linked recessive chondrodysplasia punctata 1" EXACT []
xref: ICD10CM:Q77.3
xref: MESH:C580533
xref: ORDO:35173
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:2581 ! chondrodysplasia punctata
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060293
name: autosomal dominant chondrodysplasia punctata
alt_id: MIM:118650
alt_id: RDO:0012576
def: "A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.omim.org/entry/118650 "DO"]
synonym: "chondrodysplasia punctata due to vitamin K deficiency" EXACT []
synonym: "chondrodysplasia punctata due to warfarin teratogenicity" EXACT []
xref: MESH:C563248
xref: ORDO:79344
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2581 ! chondrodysplasia punctata

[Term]
id: DOID:0060294
name: cold-induced sweating syndrome
def: "A syndrome that is characterized by profuse sweating induced by cold ambient temperature. (DO)" [http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome "DO"]
synonym: "CISS" EXACT []
synonym: "CNTF receptor-related disorders" EXACT []
synonym: "cold-induced sweating" EXACT []
synonym: "Crisponi syndrome" EXACT []
synonym: "Sohar-Crisponi syndrome" EXACT []
synonym: "tetanoform muscle contractions with characteristic face, camptodactyly, hyperthermia, and sudden death" EXACT []
xref: MESH:C536214
xref: MIM:PS272430
xref: ORDO:157820
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000972 ! Fever
is_a: DOID:9001487 ! Facies
is_a: DOID:9004062 ! Hyperhidrosis
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9006588 ! Trismus
is_a: DOID:9007820 ! Sudden Death
is_a: DOID:9008675 ! Dyskinesias
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060295
name: complement component 2 deficiency
alt_id: RDO:0008253
def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency "DO"]
synonym: "C2D" EXACT []
synonym: "C2 DEFICIENCY" EXACT []
synonym: "C2 DEFICIENCY, TYPE I" NARROW []
synonym: "C2 DEFICIENCY, TYPE II" NARROW []
synonym: "C2-RELATED DISORDER" BROAD []
xref: GARD:1452
xref: MIM:217000
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:0060296
name: congenital secretory chloride diarrhea 1
alt_id: MIM:214700
def: "A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene. (DO)" [https://omim.org/entry/214700 "DO"]
synonym: "congenital chloride diarrhea" EXACT []
synonym: "congenital chloride diarrhea, Finnish type" EXACT []
synonym: "congenital chloride diarrhoea Finnish type" EXACT []
synonym: "congenital chloridorrhea" EXACT []
synonym: "congenital secretory chloride diarrhoea 1" EXACT []
synonym: "CONGENITAL SECRETORY DIARRHEA, CHLORIDE TYPE" EXACT []
synonym: "Darrow-Gamble disease" EXACT []
synonym: "DIAR1" EXACT []
synonym: "DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL" EXACT []
synonym: "SLC26A3-RELATED CONDITION" EXACT []
xref: MESH:C536210
xref: ORDO:53689
is_a: DOID:0050129 ! secretory diarrhea
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060774 ! congenital diarrhea
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0060297
name: complement component 4A deficiency
alt_id: MIM:614380
def: "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency. (DO)" [https://www.omim.org/entry/614380 "DO"]
synonym: "C4AD" EXACT []
synonym: "C4A Deficiency" EXACT []
xref: MESH:C565167
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:0060298
name: complement component 4B deficiency
def: "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency. (DO)" [https://www.omim.org/entry/614379 "DO"]
synonym: "C4BD" EXACT []
synonym: "C4B DEFICIENCY" EXACT []
xref: MIM:614379
xref: ORDO:169147
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:0060299
name: complement component 6 deficiency
def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. (DO)" [https://www.omim.org/entry/612446 "DO"]
synonym: "C6D" EXACT []
synonym: "C6 Deficiency" EXACT []
synonym: "C6 deficiency, subtotal" NARROW []
synonym: "complement component 6 deficiency, subtotal" NARROW []
xref: MESH:C567307
xref: MIM:612446
xref: MONDO:0012908
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:0060300
name: complement component 7 deficiency
alt_id: MIM:610102
def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene. (DO)" [https://www.omim.org/entry/610102 "DO"]
synonym: "C7D" EXACT []
synonym: "C7 deficiency" EXACT []
synonym: "C7-RELATED CONDITION" EXACT []
xref: MESH:C566443
xref: ORDO:1695150
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:0060301
name: type I complement component 8 deficiency
def: "A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes. (DO)" [https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency "DO"]
synonym: "C8AG DEFICIENCY" EXACT []
synonym: "C8 ALPHA-GAMMA DEFICIENCY" EXACT []
synonym: "C8D1" EXACT []
synonym: "C8 deficiency type I" EXACT []
synonym: "complement component 8, alpha subunit, A/B polymorphism" RELATED []
xref: MIM:613790
is_a: DOID:1557 ! hypersensitivity reaction type III disease
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:0060302
name: type II complement component 8 deficiency
def: "A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes. (DO)" [https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency "DO"]
synonym: "C8B DEFICIENCY" EXACT []
synonym: "C8 BETA DEFICIENCY" EXACT []
synonym: "C8B-RELATED CONDITION" EXACT []
synonym: "C8D2" EXACT []
synonym: "C8 deficiency type II" EXACT []
synonym: "COMPLEMENT COMPONENT 8B DEFICIENCY" EXACT []
xref: MIM:613789
is_a: DOID:1557 ! hypersensitivity reaction type III disease
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:0060303
name: complement component 9 deficiency
alt_id: MIM:613825
def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. (DO)" [https://www.omim.org/entry/613825 "DO"]
synonym: "C9D" EXACT []
synonym: "C9 deficiency" EXACT []
synonym: "C9-RELATED CONDITION" BROAD []
xref: ICD10CM:D84.1
xref: MESH:C565165
xref: ORDO:169150
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:0060304
name: dyschromatosis universalis hereditaria
def: "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. (DO)" [http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria "DO", https://www.ncbi.nlm.nih.gov/pubmed/12372090 "DO"]
xref: GARD:1996
xref: MESH:C535730
xref: MIM:PS127500
xref: NCI:C173131
xref: ORDO:241
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0060305
name: megalocornea
alt_id: MIM:249300
alt_id: MIM:309300
def: "A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. (DO)" [http://en.wikipedia.org/wiki/Megalocornea "DO", http://ghr.nlm.nih.gov/gene/CHRDL1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6849653 "DO"]
synonym: "anterior megalophthalmos" EXACT []
synonym: "congenital anterior megalophthalmia" EXACT []
synonym: "ISOLATED CONGENITAL MEGALOCORNEA" NARROW []
synonym: "MGC1" EXACT []
synonym: "MGCN" EXACT []
synonym: "X-linked megalocornea 1" NARROW []
xref: MESH:C562829
xref: ORDO:91489
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:10124 ! corneal disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0060306
name: Meier-Gorlin syndrome
def: "A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation. (DO)" [http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome "DO", http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/14564153 "DO"]
synonym: "DONSON-RELATED MEIER-GORLIN SYNDROME" NARROW []
synonym: "ear, patella, short stature syndrome" EXACT []
synonym: "EPS" EXACT []
synonym: "microtia, absent patellae, micrognathia syndrome" EXACT []
xref: GARD:2033
xref: MESH:C538012
xref: MIM:PS224690
xref: ORDO:2554
is_a: DOID:225 ! syndrome
is_a: DOID:9001502 ! Congenital Microtia
is_a: DOID:9005616 ! Micrognathism
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:0060307
name: autosomal dominant intellectual developmental disorder
def: "A intellectual disability characterized by an autosomal dominant inheritance pattern. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21124998 "DO"]
synonym: "autosomal dominant mental retardation" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability" EXACT []
synonym: "autosomal dominant non-syndromic mental retardation" EXACT []
xref: GARD:12107
xref: MIM:PS156200
xref: ORDO:178469
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060308
name: autosomal recessive intellectual developmental disorder
def: "A intellectual disability characterized by an autosomal recessive inheritance pattern. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21124998 "DO"]
synonym: "autosomal recessive mental retardation" EXACT []
synonym: "autosomal recessive non-syndromic intellectual disability" EXACT []
synonym: "autosomal recessive non-syndromic mental retardation" EXACT []
xref: MIM:PS249500
xref: ORDO:88616
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060309
name: syndromic X-linked intellectual disability
def: "A syndromic intellectual disability characterized by an X-linked inheritance pattern. (DO)" [http://en.wikipedia.org/wiki/X-linked_intellectual_disability "DO"]
synonym: "syndromic X-linked mental retardation" EXACT []
xref: MIM:PS309510
is_a: DOID:0050888 ! syndromic intellectual disability
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060310
name: uvulitis
def: "An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. (DO)" [http://en.wikipedia.org/wiki/Palatine_uvula#Inflammation "DO", https://www.ncbi.nlm.nih.gov/pubmed/8285973 "DO"]
synonym: "acute uvulitis" EXACT []
xref: ICD10CM:K12.2
is_a: DOID:974 ! upper respiratory tract disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060311
name: adenoid hypertrophy
def: "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. (DO)" [http://en.wikipedia.org/wiki/Adenoid_hypertrophy "DO", http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/21126775 "DO"]
synonym: "adenoidal hypertrophy" EXACT []
synonym: "enlarged adenoids" EXACT []
xref: ICD10CM:J35.2
xref: ICD9CM:474.12
xref: RDO:9004969
is_a: DOID:974 ! upper respiratory tract disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060312
name: angular cheilitis
def: "A cheilitis characterized by inflammation of one or both of the corners of the mouth. (DO)" [http://en.wikipedia.org/wiki/Angular_cheilitis "DO"]
synonym: "angular cheilosis" EXACT []
synonym: "angular stomatitis" EXACT []
synonym: "cheilosis" EXACT []
synonym: "commissural cheilitis" EXACT []
xref: NCI:C112198
is_a: DOID:1762 ! cheilitis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0060313
name: tracheomalacia
def: "A tracheal disease characterized by flaccidity of the tracheal support cartilage. (DO)" [http://en.wikipedia.org/wiki/Tracheomalacia "DO"]
synonym: "Chondromalacia of Trachea" EXACT []
synonym: "Congenital Tracheomalacia" EXACT []
synonym: "Trachea Chondromalacia" EXACT []
synonym: "Trachea Chondromalacias" EXACT []
synonym: "Tracheomalacias" EXACT []
synonym: "Type 1 tracheomalacia" EXACT []
xref: ICD10CM:Q32.0
xref: MESH:C557675
xref: MESH:D055090
xref: ORDO:95430
is_a: DOID:9003700 ! Tracheobronchomalacia

[Term]
id: DOID:0060314
name: persistent generalized lymphadenopathy
def: "A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. (DO)" [http://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy "DO"]
synonym: "PGL" EXACT []
xref: RDO:9003464
is_a: DOID:9004150 ! Lymphadenopathy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0060315
name: oral hairy leukoplakia
def: "A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. (DO)" [http://en.wikipedia.org/wiki/Hairy_leukoplakia "DO"]
synonym: "hairy leukoplakia" EXACT []
synonym: "hairy leukoplakias" EXACT []
synonym: "oral hairy leukoplakias" EXACT []
xref: EFO:1001360
xref: ICD10CM:K13.3
xref: MESH:D017733
xref: NCI:C3722
is_a: DOID:2938 ! Epstein-Barr virus infectious disease
is_a: DOID:403 ! mouth disease
is_a: DOID:9655 ! oral mucosa leukoplakia

[Term]
id: DOID:0060316
name: orofaciodigital syndrome I
alt_id: MIM:311200
def: "An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. (DO)" [http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1 "DO", https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance "DO"]
synonym: "OFD1" EXACT []
synonym: "OFDS I" EXACT []
synonym: "oral-facial-digital syndrome, type 1" EXACT []
synonym: "oral facial digital syndrome, type I" EXACT []
synonym: "orofaciodigital syndrome 1" EXACT []
synonym: "orofaciodigital syndrome type1" EXACT []
synonym: "orofaciodigital syndrome type I" EXACT []
synonym: "Papillon-Leage and Psaume syndrome" EXACT []
synonym: "Papillon-Leage-Psaume syndrome" EXACT []
synonym: "Papillon-League-Psaume syndrome" EXACT []
xref: MESH:C537134
xref: NCI:C75481
xref: ORDO:2750
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:4501 ! orofaciodigital syndrome

[Term]
id: DOID:0060317
name: lung abscess
def: "A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. (DO)" [http://en.wikipedia.org/wiki/Lung_abscess "DO"]
synonym: "lung abscesses" EXACT []
synonym: "Pulmonary Abscess" EXACT []
synonym: "pulmonary abscesses" EXACT []
xref: EFO:1001362
xref: ICD10CM:J85.2
xref: ICD9CM:513.0
xref: MESH:D008169
xref: NCI:C99090
is_a: DOID:850 ! lung disease
is_a: DOID:9000325 ! Abscess
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:0060318
name: acute promyelocytic leukemia
alt_id: MIM:612376
def: "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. (DO)" [http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia "DO", http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia "DO"]
synonym: "acute myeloblastic leukaemia type 3" EXACT []
synonym: "acute myeloblastic leukemia type 3" EXACT []
synonym: "acute myeloid leukaemia M3" EXACT []
synonym: "acute myeloid leukemia, M3" EXACT []
synonym: "acute promyelocytic leukaemia" EXACT []
synonym: "acute promyelocytic leukemias" EXACT []
synonym: "AML M3" EXACT []
synonym: "APL" EXACT []
synonym: "DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE" RELATED []
synonym: "M3 ANLL" EXACT []
synonym: "progranulocytic leukemia" EXACT []
xref: EFO:0000224
xref: GARD:538
xref: ICD10CM:C92.4
xref: MESH:D015473
xref: NCI:C3182
xref: ORDO:520
is_a: DOID:9119 ! acute myeloid leukemia

[Term]
id: DOID:0060319
name: cardiac arrest
def: "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. (DO)" [http://en.wikipedia.org/wiki/Cardiac_arrest "DO", http://www.nlm.nih.gov/medlineplus/cardiacarrest.html "DO"]
synonym: "Asystole" EXACT []
synonym: "asystoles" EXACT []
synonym: "Cardiopulmonary Arrest" EXACT []
synonym: "circulatory arrest" EXACT []
synonym: "heart arrest" EXACT []
xref: EFO:0009492
xref: ICD10CM:I46
xref: ICD9CM:427.5
xref: MESH:D006323
xref: NCI:C50479
xref: NCI:C50483
is_a: DOID:6000 ! congestive heart failure

[Term]
id: DOID:0060320
name: inguinal hernia
def: "An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. (DO)" [http://en.wikipedia.org/wiki/Inguinal_hernia "DO"]
synonym: "Direct Inguinal Hernia" EXACT []
synonym: "Direct Inguinal Hernias" EXACT []
synonym: "Indirect Inguinal Hernia" EXACT []
synonym: "Indirect Inguinal Hernias" EXACT []
synonym: "Inguinal Hernias" EXACT []
xref: ICD10CM:K40
xref: ICD10CM:K40.90
xref: ICD9CM:550
xref: MESH:D006552
xref: NCI:C34690
xref: NCI:C34691
xref: NCI:C34692
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9004681 ! Abdominal Hernia

[Term]
id: DOID:0060321
name: umbilical hernia
def: "A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. (DO)" [http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630 "DO", https://en.wikipedia.org/wiki/Umbilical_hernia "DO"]
synonym: "Umbilical Hernias" EXACT []
xref: ICD10CM:Q79.2
xref: ICD9CM:756.72
xref: MESH:D006554
xref: NCI:C98997
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9006325 ! Ventral Hernia

[Term]
id: DOID:0060322
name: mastoiditis
def: "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. (DO)" [http://en.wikipedia.org/wiki/Mastoiditis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001034.htm "DO"]
synonym: "mastoiditides" EXACT []
xref: ICD10CM:H70.9
xref: ICD9CM:383.9
xref: MESH:D008417
xref: NCI:C128368
is_a: DOID:1019 ! osteomyelitis
is_a: DOID:10754 ! otitis media

[Term]
id: DOID:0060323
name: breast abscess
def: "A breast disease characterized by a collection of pus in the breast. (DO)" [http://en.wikipedia.org/wiki/Mastitis#Breast_abscess "DO"]
is_a: DOID:3463 ! breast disease
is_a: DOID:9000325 ! Abscess
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:0060324
name: dental abscess
def: "A tooth disease characterized by a localized collection of pus associated with a tooth. (DO)" [http://en.wikipedia.org/wiki/Dental_abscess "DO"]
xref: ICD10CM:K04.6
is_a: DOID:1091 ! tooth disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0060325
name: cervical polyp
def: "A cervix disease characterized by a benign polyp on the surface of the cervical canal. (DO)" [http://en.wikipedia.org/wiki/Cervical_polyp "DO"]
xref: EFO:0009475
xref: ICD10CM:D26.9
xref: ICD9CM:219
is_a: DOID:2253 ! cervix disease

[Term]
id: DOID:0060326
name: myelomeningocele
def: "A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. (DO)" [http://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm "DO"]
synonym: "acquired meningomyelocele" EXACT []
synonym: "acquired meningomyeloceles" EXACT []
synonym: "Acquired Myelomeningocele" EXACT []
synonym: "acquired myelomeningoceles" EXACT []
synonym: "meningomyelocele" EXACT []
synonym: "Meningomyeloceles" EXACT []
synonym: "myelocele" EXACT []
synonym: "myeloceles" EXACT []
synonym: "myelomeningoceles" EXACT []
xref: EFO:1001369
xref: ICD10CM:Q05
xref: MESH:D008591
xref: NCI:C101201
xref: NCI:C98874
is_a: DOID:0080016 ! spina bifida
is_a: DOID:0080074 ! neural tube defect
is_a: DOID:319 ! spinal cord disease

[Term]
id: DOID:0060327
name: omphalocele
def: "A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. (DO)" [http://en.wikipedia.org/wiki/Omphalocele "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000994.htm "DO"]
synonym: "exomphalos" EXACT []
synonym: "omphalocoele" EXACT []
xref: ICD10CM:Q79.2
xref: ICD9CM:756.72
xref: MIM:164750
xref: MIM:310980
xref: MONDO:0019015
xref: NCI:C98997
xref: ORDO:660
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9005214 ! Anatomical Pathological Conditions
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:0060328
name: anal fistula
def: "An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. (DO)" [http://en.wikipedia.org/wiki/Anal_fistula "DO"]
synonym: "rectal fistula" EXACT []
xref: ICD10CM:K60.3
xref: MESH:D012003
is_a: DOID:1285 ! rectal disease
is_a: DOID:9001015 ! Intestinal Fistula

[Term]
id: DOID:0060329
name: ectopic pregnancy
def: "A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. (DO)" [http://en.wikipedia.org/wiki/Ectopic_pregnancy "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000895.htm "DO"]
synonym: "eccyesis" EXACT []
synonym: "ectopic pregnancies" EXACT []
synonym: "extrauterine pregnancies" EXACT []
synonym: "extrauterine pregnancy" EXACT []
xref: GARD:6318
xref: ICD10CM:O00
xref: ICD9CM:633
xref: MESH:D011271
xref: NCI:C34945
is_a: DOID:229 ! female reproductive system disease
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:0060330
name: Rapp-Hodgkin syndrome
def: "An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. (DO)" [http://rarediseases.info.nih.gov/gard/5690/rapp-hodgkin-syndrome/resources/1 "DO"]
synonym: "anhidrotic ectodermal dysplasia with cleft lip/palate" EXACT []
synonym: "ectodermal dysplasia, Rapp-Hodgkin type" EXACT []
synonym: "ectodermal dysplasia syndrome, Rapp-Hodgkin type" EXACT []
synonym: "nonsyndromic cleft lip with or without cleft palate, 8" NARROW []
synonym: "OFC8" NARROW []
synonym: "RHS" EXACT []
xref: GARD:5690
xref: MESH:C535289
xref: MIM:129400
xref: MONDO:0007508
xref: ORDO:3022
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:0060331
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2
alt_id: MIM:614052
def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. (DO)" [http://omim.org/entry/614052 "DO"]
synonym: "MC5DN2" EXACT []
synonym: "mitochondrial complex V (ATP synthase) deficiency, TMEM70 type" EXACT []
synonym: "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency" EXACT []
synonym: "nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2" EXACT []
xref: GARD:12965
xref: MESH:C567528
xref: ORDO:1194
is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency
is_a: DOID:890 ! mitochondrial encephalomyopathy

[Term]
id: DOID:0060332
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3
def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20566710/ "DO"]
synonym: "DECREASED ACTIVITY OF MITOCHONDRIAL ATP SYNTHASE COMPLEX" EXACT []
synonym: "MC5DN3" EXACT []
synonym: "mitochondrial complex V (ATP synthase) deficiency, ATP5E type" EXACT []
xref: MIM:614053
is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency

[Term]
id: DOID:0060333
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4
def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23599390/ "DO", https://pubmed.ncbi.nlm.nih.gov/34954817/ "DO"]
synonym: "ATP5F1A-RELATED CONDITION" BROAD []
synonym: "MC5DN4" EXACT []
synonym: "mitochondrial complex V (ATP synthase) deficiency, ATP5A1 type" EXACT []
synonym: "mitochondrial complex V (ATP synthase) deficiency, encephalopathic, ATP5A1 type" EXACT []
is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency

[Term]
id: DOID:0060334
name: transient neonatal diabetes mellitus
def: "A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. (DO)" [http://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus "DO", https://www.ncbi.nlm.nih.gov/pubmed/17349054 "DO"]
synonym: "autosomal recessive transient neonatal diabetes mellitus" NARROW []
synonym: "DMTN" EXACT []
synonym: "TNDM" EXACT []
synonym: "transient neonatal diabetes, dominant" NARROW []
synonym: "transient neonatal diabetes, dominant/recessive" NARROW []
synonym: "transient neonatal diabetes, recessive" NARROW []
xref: EFO:0020032
xref: EFO:0020040
xref: GARD:1839
xref: ORDO:99886
is_a: DOID:11717 ! neonatal diabetes
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060335
name: autosomal dominant sideroblastic anemia 4
alt_id: MIM:182170
def: "A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. (DO)" [http://en.wikipedia.org/wiki/Sideroblastic_anemia "DO"]
synonym: "SIDBA4" EXACT []
synonym: "sideroblastic anemia 4" EXACT []
xref: MESH:C567160
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:8955 ! sideroblastic anemia

[Term]
id: DOID:0060336
name: 3-methylglutaconic aciduria
def: "An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. (DO)" [https://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria "DO"]
synonym: "3mga (3-Methylglutaconic Aciduria)" EXACT []
xref: ICD10CM:E71.111
xref: MESH:C579867
xref: MIM:PS250950
xref: ORDO:289902
is_a: DOID:0060159 ! organic acidemia
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0060337
name: CEDNIK syndrome
alt_id: MIM:609528
def: "A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21073448 "DO"]
synonym: "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" EXACT []
synonym: "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" EXACT []
xref: MESH:C537943
xref: ORDO:66631
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:9001734 ! Neurocutaneous Syndromes

[Term]
id: DOID:0060338
name: parameningeal embryonal rhabdomyosarcoma
def: "An embryonal rhabdomyosarcoma located in the parameningeal region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10717216 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23021437 "DO"]
is_a: DOID:3246 ! embryonal rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0060339
name: chronic atrial and intestinal dysrhythmia
alt_id: RDO:9000750
def: "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25282101 "DO"]
synonym: "CAID" EXACT []
synonym: "CAID syndrome" EXACT []
xref: MIM:616201
is_a: DOID:0080072 ! intestinal pseudo-obstruction
is_a: DOID:114 ! heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:0060340
name: ciliopathy
def: "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. (DO)" [http://en.wikipedia.org/wiki/Ciliopathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/18178628 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21210154 "DO"]
synonym: "ciliopathies" EXACT []
xref: EFO:0003900
xref: MESH:D000072661
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060341
name: agnathia-otocephaly complex
alt_id: MIM:202650
def: "A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17438667 "DO"]
synonym: "agnathia-holoprosencephaly" EXACT []
synonym: "agnathia-holoprosencephaly-situs inversus syndrome" EXACT []
synonym: "AGOTC" EXACT []
synonym: "dysgnathia complex" EXACT []
synonym: "dysgnathia complex, agnathia-holoprosencephaly" EXACT []
synonym: "otocephaly" EXACT []
xref: ICD10CM:Q18.2
xref: MESH:C537996
xref: MESH:C562503
xref: ORDO:990
is_a: DOID:0080015 ! physical disorder
is_a: DOID:4621 ! holoprosencephaly
is_a: DOID:9000066 ! Jaw Abnormalities

[Term]
id: DOID:0060342
name: acromelic frontonasal dysostosis
alt_id: MIM:603671
def: "A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15264282 "DO"]
synonym: "AFND" EXACT []
synonym: "ZSWIM6-RELATED CONDITION" BROAD []
xref: GARD:5539
xref: MESH:C566345
xref: ORDO:1827
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:0060343
name: glucocorticoid-induced osteoporosis
def: "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17566815 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22870429 "DO"]
synonym: "steroid-induced osteoporosis" RELATED []
xref: RDO:9002014
is_a: DOID:11476 ! osteoporosis
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:0060344
name: acrodermatitis chronica atrophicans
def: "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. (DO)" [http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans "DO", http://www.dermis.net/dermisroot/en/35111/diagnose.htm "DO"]
synonym: "Herxheimer disease" EXACT []
synonym: "primary diffuse atrophy" EXACT []
xref: EFO:1000665
xref: ICD9CM:701.8
is_a: DOID:2722 ! acrodermatitis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0060345
name: bacillary angiomatosis
def: "A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. (DO)" [http://en.wikipedia.org/wiki/Bacillary_angiomatosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/9407154 "DO"]
synonym: "bacillary angiomatoses" EXACT []
synonym: "Bacillary Epithelioid Angiomatoses" EXACT []
synonym: "Bacillary Epithelioid Angiomatosis" EXACT []
synonym: "Epithelioid Angiomatoses" EXACT []
synonym: "epithelioid angiomatosis" EXACT []
xref: MESH:D016917
xref: NCI:C3477
is_a: DOID:11102 ! bartonellosis
is_a: DOID:9003209 ! Bacterial Skin Diseases
is_a: DOID:9004079 ! Angiomatosis
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:0060346
name: Native American myopathy
def: "A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18553514 "DO"]
synonym: "Bailey-Bloch congenital myopathy" EXACT []
synonym: "Baily-Bloch congenital myopathy" EXACT []
synonym: "CMYO13" EXACT []
synonym: "CMYP13" EXACT []
synonym: "congenital myopathy 13" EXACT []
synonym: "congenital myopathy cleft palate and malignant hyperthermia" EXACT []
synonym: "congenital myopathy, with cleft palate and malignant hyperthermia" EXACT []
synonym: "congenital myopathy with myopathic facies, scoliosis, and malignant hyperthermia" EXACT []
synonym: "MYPBB" EXACT []
synonym: "NAM" EXACT []
xref: GARD:8432
xref: MESH:C538343
xref: MIM:255995
xref: MONDO:0009722
xref: ORDO:168572
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:2106 ! myotonia congenita
is_a: DOID:674 ! cleft palate
is_a: DOID:8545 ! malignant hyperthermia

[Term]
id: DOID:0060347
name: acrorenal syndrome
alt_id: MIM:102520
def: "A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26019842 "DO"]
xref: MESH:C563159
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0060348
name: hypoparathyroidism-retardation-dysmorphism syndrome
alt_id: MIM:241410
def: "A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15645691 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24339556 "DO"]
synonym: "congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay" EXACT []
synonym: "HRDS" EXACT []
synonym: "HRD syndrome" EXACT []
synonym: "Hypoparathyroidism with short stature, mental retardation, and seizures" EXACT []
synonym: "Sanjad-Sakati syndrome" EXACT []
xref: GARD:411
xref: MESH:C537157
xref: NCI:C133727
xref: ORDO:2323
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11199 ! hypoparathyroidism
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060349
name: microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
alt_id: MIM:152950
def: "A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10482868 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11302131 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25124931 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5936364 "DO"]
synonym: "CDMMR syndrome" EXACT []
synonym: "chorioretinal dysplasia-microcephaly-mental retardation syndrome" EXACT []
synonym: "KIF11-RELATED CONDITION" EXACT []
synonym: "lymphedema and retinal folds with ficrocephaly and microphthalmos" EXACT []
synonym: "lymphedema and retinal folds with microcephaly and microphthalmos" EXACT []
synonym: "lymphedema, microcephaly and chorioretinopathy syndrome" EXACT []
synonym: "lymphedema, microcephaly, chorioretinopathy syndrome" EXACT []
synonym: "MCLMR" EXACT []
synonym: "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant" EXACT []
synonym: "microcephaly lymphedema chorioretinal dysplasia" EXACT []
synonym: "microcephaly, lymphedema, chorioretinal dysplasia syndrome" EXACT []
synonym: "microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development" EXACT []
synonym: "MLCRD syndrome" EXACT []
xref: MESH:C537711
xref: ORDO:2526
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:4977 ! lymphedema
is_a: DOID:9001487 ! Facies
is_a: DOID:9006597 ! Retinal Dysplasia

[Term]
id: DOID:0060350
name: adenine phosphoribosyltransferase deficiency
alt_id: MIM:614723
def: "A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. (DO)" [http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency "DO", https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency "DO", https://pubmed.ncbi.nlm.nih.gov/22700886/ "DO", https://pubmed.ncbi.nlm.nih.gov/8864750/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20150536 "DO"]
synonym: "2,8-Dihydroxyadenine Urolithiasis" EXACT []
synonym: "2,8-Dihydroxyadeninuria" EXACT []
synonym: "APRTD" EXACT []
synonym: "APRT Deficiency" EXACT []
synonym: "DHA Crystalline Nephropathy" EXACT []
synonym: "Nephrolithiasis, DHA" EXACT []
synonym: "Urolithiasis, DHA" EXACT []
xref: GARD:10666
xref: GARD:546
xref: MESH:C538228
xref: NCI:C121564
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080653 ! urolithiasis
is_a: DOID:653 ! purine-pyrimidine metabolic disorder

[Term]
id: DOID:0060351
name: mitochondrial complex III deficiency nuclear type 2
def: "A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. (DO)" [http://www.omim.org/entry/615157 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21278747 "DO"]
synonym: "MC3DN2" EXACT []
xref: MIM:615157
is_a: DOID:0111139 ! mitochondrial complex III deficiency

[Term]
id: DOID:0060352
name: Kleefstra syndrome 1
alt_id: DOID:0070075
alt_id: MIM:610253
def: "A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. (DO)" [https://en.wikipedia.org/wiki/9q34_deletion_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15264279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16826528 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21245904 "DO"]
synonym: "9q34.3 deletion syndrome" EXACT []
synonym: "9q34.3 microdeletion syndrome" EXACT []
synonym: "9q34 deletion syndrome" EXACT []
synonym: "9q subtelomeric deletion syndrome" EXACT []
synonym: "9q- syndrome" EXACT []
synonym: "chromosome 9q34.3 deletion syndrome" EXACT []
synonym: "chromosome 9Q deletion syndrome" EXACT []
synonym: "EHMT1-RELATED CONDITION" EXACT []
xref: GARD:8672
xref: MESH:C563043
xref: ORDO:261494
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:0080597 ! Kleefstra syndrome

[Term]
id: DOID:0060353
name: acrofacial dysostosis Cincinnati type
def: "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25913037 "DO"]
synonym: "AFDCIN" EXACT []
synonym: "Cincinnati type of acrofacial dysostosis" EXACT []
synonym: "POLR1A-RELATED CONDITION" BROAD []
xref: MIM:616462
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060379 ! acrofacial dysostosis
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:0060354
name: Stormorken syndrome
alt_id: MIM:185070
def: "A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. (DO)" [http://ghr.nlm.nih.gov/condition/stormorken-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/24619930 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25577287 "DO"]
synonym: "thrombocytopathy, asplenia, and miosis" EXACT []
xref: MESH:C566108
xref: ORDO:3204
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1697 ! ichthyosis
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:225 ! syndrome
is_a: DOID:4428 ! dyslexia
is_a: DOID:6364 ! migraine
is_a: DOID:9003165 ! Miosis

[Term]
id: DOID:0060355
name: amyotrophic lateral sclerosis type 22
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35. (DO)" [http://omim.org/entry/616208 "DO"]
synonym: "ALS 22" EXACT []
synonym: "ALS22" EXACT []
synonym: "amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia" EXACT []
synonym: "amyotrophic lateral sclerosis 22" EXACT []
synonym: "amyotrophic lateral sclerosis 22 with frontotemporal dementia" EXACT []
synonym: "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia" EXACT []
xref: MIM:616208
xref: MONDO:0014531
is_a: DOID:332 ! amyotrophic lateral sclerosis
is_a: DOID:9255 ! frontotemporal dementia

[Term]
id: DOID:0060356
name: Vici syndrome
alt_id: MIM:242840
def: "A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. (DO)" [https://en.wikipedia.org/wiki/Vici_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21965116 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23222957 "DO"]
synonym: "Absent Corpus Callosum Cataract Immunodeficiency" EXACT []
synonym: "EPG5-RELATED CONDITION" EXACT []
synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum" EXACT []
synonym: "VICIS" EXACT []
xref: GARD:448
xref: MESH:C535566
xref: MONDO:0009452
xref: NCI:C138174
xref: ORDO:1493
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9001999 ! Agenesis of Corpus Callosum

[Term]
id: DOID:0060357
name: chylomicron retention disease
alt_id: MIM:246700
def: "A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. (DO)" [https://en.wikipedia.org/wiki/Chylomicron_retention_disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/10521380 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20920215 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3430059 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3792776 "DO"]
synonym: "ANDD" EXACT []
synonym: "Anderson disease" EXACT []
synonym: "Anderson Syndrome" EXACT []
synonym: "CMRD" EXACT []
synonym: "Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein In Intestinal Cells" EXACT []
synonym: "lipid transport defect of intestine" EXACT []
xref: GARD:9683
xref: MESH:C535460
xref: ORDO:71
is_a: DOID:1390 ! hypobetalipoproteinemia
is_a: DOID:9002984 ! Malabsorption Syndromes

[Term]
id: DOID:0060358
name: multiple acyl-CoA dehydrogenase deficiency
alt_id: MIM:231680
def: "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. (DO)" [http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii "DO", https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12815589 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22580358 "DO"]
synonym: "electron transfer flavoprotein alpha subunit deficiency" NARROW []
synonym: "Electron Transfer Flavoprotein Beta Subunit Deficiency" NARROW []
synonym: "Electron Transfer Flavoprotein Deficiency" EXACT []
synonym: "Electron Transfer Flavoprotein Dehydrogenase Deficiency" NARROW []
synonym: "electron transfer flavoprotein ubiquinone oxidoreductase deficiency" EXACT []
synonym: "EMA  GLUTARIC ACIDEMIA IIA" NARROW []
synonym: "ETFA deficiencies" NARROW []
synonym: "ETFA DEFICIENCY" NARROW []
synonym: "ETFB Deficiencies" NARROW []
synonym: "ETFB DEFICIENCY" NARROW []
synonym: "ETFDH Deficiencies" NARROW []
synonym: "ETFDH DEFICIENCY" NARROW []
synonym: "ETHYLMALONIC-ADIPICACIDURIA" EXACT []
synonym: "Ethylmalonic Adipic Aciduria" EXACT []
synonym: "Ethylmalonic-Adipic Acidurias" EXACT []
synonym: "GA II" NARROW []
synonym: "GLUTARIC ACIDEMIA II" NARROW []
synonym: "GLUTARIC ACIDEMIA IIB" NARROW []
synonym: "GLUTARIC ACIDEMIA IIC" NARROW []
synonym: "GLUTARIC ACIDEMIA IIC, LATE-ONSET" NARROW []
synonym: "Glutaric Acidemia, Type 2" NARROW []
synonym: "GLUTARIC ACIDEMIA TYPE 2C" NARROW []
synonym: "Glutaric Acidemia Type II" NARROW []
synonym: "Glutaric Aciduria II" NARROW []
synonym: "Glutaric Aciduria IIA" NARROW []
synonym: "Glutaric Aciduria IIB" NARROW []
synonym: "Glutaric Aciduria IIC" NARROW []
synonym: "Glutaric Aciduria Type 2" NARROW []
synonym: "Glutaric Aciduria Type II" NARROW []
synonym: "MADD" EXACT []
synonym: "MADD (multiple acyl-CoA dehydrogenase deficiency)" EXACT []
synonym: "MAD deficiency" EXACT []
synonym: "MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, SEVERE NEONATAL TYPE" NARROW []
synonym: "multiple FAD dehydrogenase deficiency" EXACT []
xref: ICD10CM:E71.313
xref: MESH:D054069
xref: NCI:C84907
xref: ORDO:26791
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0060359
name: Sakati-Nyhan syndrome
alt_id: MIM:101120
def: "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. (DO)" [https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome "DO"]
synonym: "ACPS III" EXACT []
synonym: "ACPS with leg hypoplasia" EXACT []
synonym: "acrocephalopolysyndactyly type 3" EXACT []
synonym: "acrocephalopolysyndactyly type III" EXACT []
synonym: "Sakati-Nyhan-Tisdale syndrome" EXACT []
synonym: "Sakati syndrome" EXACT []
xref: GARD:115
xref: MESH:C537227
xref: ORDO:3128
is_a: DOID:12960 ! acrocephalosyndactylia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0060360
name: hereditary papulotranslucent acrokeratoderma
alt_id: MIM:101840
alt_id: RDO:0014709
def: "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16409913 "DO"]
xref: EFO:1000708
xref: MESH:C566323
is_a: DOID:161 ! keratosis
is_a: DOID:869 ! cholesteatoma
is_a: DOID:9003842 ! Foot Dermatoses

[Term]
id: DOID:0060361
name: punctate palmoplantar keratoderma
def: "A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. (DO)" [https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate "DO"]
synonym: "punctate keratosis palmoplantaris" RELATED []
synonym: "punctate palmoplantar hyperkeratosis" EXACT []
xref: ORDO:307967
is_a: DOID:3390 ! palmoplantar keratosis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0060362
name: punctate palmoplantar keratoderma type III
def: "A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene. (DO)" [https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i "DO"]
synonym: "acrokeratoelastoidosis of Costa" EXACT []
synonym: "collagenous plaques of hand and feet" EXACT []
synonym: "collagenous plaques of hands and feet" EXACT []
synonym: "palmoplantar keratoderma, punctate type 3" EXACT []
synonym: "PPKP3" EXACT []
synonym: "punctate palmoplantar hyperkeratosis type 3" EXACT []
xref: EFO:1000758
xref: MESH:C535653
xref: MIM:101850
xref: MONDO:0007047
xref: ORDO:38
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060361 ! punctate palmoplantar keratoderma

[Term]
id: DOID:0060363
name: glycerol kinase deficiency
def: "An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. (DO)" [https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/22427807 "DO"]
synonym: "DEFICIENCY OF GLYCEROL KINASE" EXACT []
synonym: "GK1 deficiency" EXACT []
synonym: "GKD" EXACT []
synonym: "GK deficiency" EXACT []
synonym: "GK-RELATED CONDITION" EXACT []
synonym: "hyperglycerolemia" EXACT []
xref: MIM:307030
xref: NCI:C124845
xref: ORDO:408
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:0060364
name: Galloway-Mowat syndrome 1
def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. (DO)" [https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/26123727/ "DO"]
synonym: "autosomal recessive spinocerebellar ataxia 5" EXACT []
synonym: "Galloway syndrome" EXACT []
synonym: "GAMOS1" EXACT []
synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT []
synonym: "nephrosis-microcephaly syndrome" EXACT []
synonym: "nephrosis-neuronal dysmigration syndrome" EXACT []
synonym: "SCAR5" EXACT []
synonym: "WDR73-RELATED CONDITION" EXACT []
xref: MIM:251300
xref: MONDO:0033005
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080694 ! Galloway-Mowat syndrome
created_by: gthayman
creation_date: 2019-03-13T00:00:00Z

[Term]
id: DOID:0060365
name: mandibulofacial dysostosis with alopecia
def: "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25772936 "DO"]
synonym: "MFDA" EXACT []
xref: MIM:616367
is_a: DOID:225 ! syndrome
is_a: DOID:9008003 ! Mandibulofacial Dysostosis
is_a: DOID:987 ! alopecia
created_by: rgd
creation_date: 2017-05-04T00:00:00Z

[Term]
id: DOID:0060366
name: Hennekam syndrome
def: "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. (DO)" [http://ghr.nlm.nih.gov/condition/hennekam-syndrome "DO", https://en.wikipedia.org/wiki/Hennekam_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/14564208 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24870712 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2624276 "DO"]
synonym: "generalized lymphatic dysplasia" EXACT []
synonym: "Hennekam Lymphangiectasia Lymphedema Syndrome" EXACT []
synonym: "Lymphangiectasies and lymphedema Hennekam type" EXACT []
synonym: "lymphedema-lymphangiectasia-intellectual disability syndrome" EXACT []
synonym: "lymphedem-lymphangiectasia-intellectual disability syndrome" EXACT []
xref: GARD:3318
xref: MESH:C537255
xref: MIM:PS235510
xref: ORDO:2136
is_a: DOID:225 ! syndrome
is_a: DOID:4977 ! lymphedema
is_a: DOID:75 ! lymphatic system disease
is_a: DOID:9005821 ! Intestinal Lymphangiectasis
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060367
name: Parkinson's disease 1
alt_id: MIM:168601
def: "A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1. (DO)" [http://www.omim.org/entry/168601 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"]
synonym: "atypical Parkinson's disease" EXACT []
synonym: "atypical Parkinson disease" EXACT []
synonym: "autosomal dominant Parkinson's disease" EXACT []
synonym: "autosomal dominant Parkinson's disease 1" EXACT []
synonym: "autosomal dominant Parkinson's disease 1, Lewy body" EXACT []
synonym: "autosomal dominant Parkinson disease" EXACT []
synonym: "autosomal dominant Parkinson disease 1" EXACT []
synonym: "familial Parkinson's disease, type 1" EXACT []
synonym: "Lewy Body Parkinsonism" EXACT []
synonym: "PARK1" EXACT []
synonym: "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY" EXACT []
synonym: "Parkinson Disease, Familial, Type 1" EXACT []
xref: MESH:C566823
xref: NCI:C198602
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060892 ! late onset Parkinson's disease

[Term]
id: DOID:0060368
name: Parkinson's disease 2
alt_id: MIM:600116
def: "An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"]
synonym: "autosomal recessive juvenile Parkinson's disease 2" EXACT []
synonym: "autosomal recessive juvenile Parkinson disease 2" EXACT []
synonym: "autosomal recessive Parkinson disease, early onset" EXACT []
synonym: "early onset Parkinsonism with diurnal fluctuation" EXACT []
synonym: "PARK2" EXACT []
synonym: "Parkinson disease 2" EXACT []
synonym: "young-onset Parkinson disease" EXACT []
xref: NCI:C198603
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060894 ! early-onset Parkinson's disease

[Term]
id: DOID:0060369
name: Parkinson's disease 6
alt_id: MIM:605909
def: "An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"]
synonym: "autosomal recessive early-onset Parkinson's disease 6" EXACT []
synonym: "autosomal recessive early-onset Parkinson disease 6" EXACT []
synonym: "early-onset Parkinson disease 6" EXACT []
synonym: "PARK6" EXACT []
synonym: "PARKINSON'S DISEASE 6, EARLY-ONSET" NARROW []
synonym: "PARKINSON'S DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO" NARROW []
synonym: "PARKINSON'S DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1" NARROW []
synonym: "Parkinson disease 6" EXACT []
synonym: "PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO" NARROW []
synonym: "PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1" NARROW []
synonym: "PINK1-related parkinsonism" EXACT []
xref: MESH:C565276
xref: NCI:C184990
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060894 ! early-onset Parkinson's disease
is_a: DOID:0080578 ! digenic disease

[Term]
id: DOID:0060370
name: Parkinson's disease 7
alt_id: MIM:606324
def: "An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"]
synonym: "autosomal recessive early-onset Parkinson's disease 7" EXACT []
synonym: "autosomal recessive early-onset Parkinson disease 7" EXACT []
synonym: "PARK7" EXACT []
synonym: "Parkinson disease 7" EXACT []
xref: MESH:C565238
xref: NCI:C198606
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060894 ! early-onset Parkinson's disease

[Term]
id: DOID:0060371
name: Parkinson's disease 8
alt_id: MIM:607060
def: "A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"]
synonym: "autosomal dominant Parkinson's disease 8" EXACT []
synonym: "autosomal dominant Parkinson disease 8" EXACT []
synonym: "LRRK2-RELATED CONDITION" EXACT []
synonym: "PARK8" EXACT []
synonym: "Parkinson disease 8" EXACT []
xref: MESH:C564631
xref: NCI:C198605
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060892 ! late onset Parkinson's disease

[Term]
id: DOID:0060372
name: Parkinson's disease 15
alt_id: MIM:260300
def: "An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"]
synonym: "autosomal recessive early-onset Parkinson's disease 15" EXACT []
synonym: "autosomal recessive early-onset Parkinson disease 15" EXACT []
synonym: "pallido-pyramidal disease" EXACT []
synonym: "Pallidopyramidal Syndrome" EXACT []
synonym: "pallido-pyramidal syndrome" EXACT []
synonym: "PARK15" EXACT []
synonym: "Parkinson's disease 15, autosomal recessive" EXACT []
synonym: "PARKINSON DISEASE 15" EXACT []
synonym: "Parkinson Disease 15, Autosomal Recessive" EXACT []
synonym: "parkinsonian-pyramidal syndrome" EXACT []
synonym: "PKPS" EXACT []
xref: MESH:C538104
xref: NCI:C198607
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060894 ! early-onset Parkinson's disease
is_a: DOID:225 ! syndrome
is_a: DOID:529 ! blepharospasm

[Term]
id: DOID:0060373
name: orofaciodigital syndrome III
alt_id: MIM:258850
def: "An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. (DO)" [https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3 "DO"]
synonym: "brachydactyly of the hands and feet with duplication of the first toes" EXACT []
synonym: "brachydactyly with major proximal phalangeal shortening" EXACT []
synonym: "OFDS III" EXACT []
synonym: "oral-facial-digital syndrome 3" EXACT []
synonym: "oral-facial-digital syndrome, type III" EXACT []
synonym: "orofaciodigital syndrome 3" EXACT []
synonym: "Sugarman syndrome" EXACT []
xref: MESH:C557817
xref: ORDO:2752
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4501 ! orofaciodigital syndrome

[Term]
id: DOID:0060374
name: orofaciodigital syndrome IV
alt_id: MIM:258860
def: "An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 "DO"]
synonym: "Baraitser-Burn syndrome" EXACT []
synonym: "Mohr-Majewski Syndrome" EXACT []
synonym: "OFD4" EXACT []
synonym: "OFDS IV" EXACT []
synonym: "OFD Syndrome, Baraitser-Burn Type" EXACT []
synonym: "OFD syndrome with tibial defects" EXACT []
synonym: "oral-facial-digital syndrome, type IV" EXACT []
synonym: "orofacial-digital syndrome IV" EXACT []
synonym: "orofaciodigital syndrome 4" EXACT []
synonym: "orofaciodigital syndrome with tibial dysplasia" EXACT []
xref: MESH:C537133
xref: ORDO:2753
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4501 ! orofaciodigital syndrome

[Term]
id: DOID:0060375
name: orofaciodigital syndrome V
alt_id: MIM:174300
def: "An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32. (DO)" [https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23972372 "DO"]
synonym: "OFD5" EXACT []
synonym: "OFDS V" EXACT []
synonym: "oral-facial-digital syndrome 5" EXACT []
synonym: "oral-facial-digital syndrome, type V" EXACT []
synonym: "orofaciodigital syndrome 5" EXACT []
synonym: "orofaciodigital syndrome Thurston type" EXACT []
synonym: "postaxial polydactyly with median cleft of upper lip" EXACT []
synonym: "Thurston syndrome" EXACT []
xref: MESH:C557819
xref: ORDO:2919
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4501 ! orofaciodigital syndrome

[Term]
id: DOID:0060376
name: Joubert syndrome with orofaciodigital defect
alt_id: MIM:277170
def: "A Joubert syndrome that is characterized by orofaciodigital defect. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23716954 "DO"]
synonym: "CPLANE1-RELATED CONDITION" BROAD []
synonym: "OFD6" EXACT []
synonym: "OFDS VI" EXACT []
synonym: "oral-facial-digital syndrome, type 6" EXACT []
synonym: "Oral-Facial-Digital Syndrome, Type VI" EXACT []
synonym: "Orofaciodigital syndrome 6" EXACT []
synonym: "Orofaciodigital Syndrome VI" EXACT []
synonym: "Polydactyly, Cleft Lip-Palate or Lingual Lump, and Psychomotor Retardation" EXACT []
synonym: "polydactyly, cleft lip palate, psychomotor retardation" EXACT []
synonym: "Varadi Papp syndrome" EXACT []
synonym: "Varadi syndrome" EXACT []
xref: GARD:4412
xref: MESH:C536531
xref: NCI:C124841
xref: ORDO:2754
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:4501 ! orofaciodigital syndrome

[Term]
id: DOID:0060377
name: orofaciodigital syndrome VII
alt_id: MIM:608518
def: "An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance. (DO)" [https://omim.org/entry/608518 "DO"]
synonym: "OFD7" EXACT []
synonym: "OFDS VII" EXACT []
synonym: "oral-facial-digital syndrome, type VII" EXACT []
synonym: "orofaciodigital syndrome 7" EXACT []
synonym: "Whelan syndrome" EXACT []
xref: MESH:C563104
xref: ORDO:90649
is_a: DOID:4501 ! orofaciodigital syndrome

[Term]
id: DOID:0060378
name: orofaciodigital syndrome VIII
alt_id: MIM:300484
def: "An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. (DO)" [https://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-8 "DO"]
synonym: "OFD8" EXACT []
synonym: "OFDS 8" EXACT []
synonym: "OFDS VIII" EXACT []
synonym: "OFD syndrome 8" EXACT []
synonym: "oral-facial-digital syndrome 8" EXACT []
synonym: "oral-facial-digital syndrome, Edwards type" EXACT []
synonym: "oral-facial-digital syndrome type 8" EXACT []
synonym: "oral-facial-digital syndrome with hypoplastic epiglottis" EXACT []
synonym: "orofaciodigital syndrome 8" EXACT []
synonym: "orofaciodigital syndrome, Edwards type" EXACT []
xref: GARD:4060
xref: MESH:C557820
xref: ORDO:2755
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:4501 ! orofaciodigital syndrome

[Term]
id: DOID:0060379
name: acrofacial dysostosis
def: "A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis "DO"]
is_a: DOID:1934 ! dysostosis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0060380
name: orofaciodigital syndrome X
alt_id: MIM:165590
def: "An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones. (DO)" [https://omim.org/entry/165590 "DO"]
synonym: "OFD10" EXACT []
synonym: "oral-facial-digital syndrome, type X" EXACT []
synonym: "Oral-Facial-Digital Syndrome with Fibular Aplasia" EXACT []
synonym: "orofaciodigital syndrome 10" EXACT []
synonym: "orofaciodigital syndrome with fibular aplasia" EXACT []
xref: MESH:C563491
xref: ORDO:2756
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4501 ! orofaciodigital syndrome

[Term]
id: DOID:0060381
name: orofaciodigital syndrome XI
alt_id: MIM:612913
def: "An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects. (DO)" [https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11 "DO"]
synonym: "Gabrielli syndrome" EXACT []
synonym: "OFD11" EXACT []
synonym: "OFDS XI" EXACT []
synonym: "oral-facial-digital syndrome 11" EXACT []
synonym: "Oral-Facial-Digital Syndrome, Type XI" EXACT []
synonym: "Oral-Facial-Digital Syndrome with Skeletal Anomalies" EXACT []
synonym: "orofaciodigital syndrome 11" EXACT []
xref: MESH:C557821
xref: ORDO:141000
is_a: DOID:4501 ! orofaciodigital syndrome

[Term]
id: DOID:0060382
name: orofaciodigital syndrome IX
alt_id: MIM:258865
def: "An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. (DO)" [https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18000902 "DO"]
synonym: "OFD9" EXACT []
synonym: "OFDS IX" EXACT []
synonym: "oral-facial-digital syndrome 9" EXACT []
synonym: "oral facial digital syndrome, type IX" EXACT []
synonym: "oral-facial-digital syndrome with retinal abnormalities" EXACT []
synonym: "orofaciodigital syndrome 9" EXACT []
synonym: "orofaciodigital syndrome, type 9" EXACT []
synonym: "orofaciodigital syndrome with retinal abnormalities" EXACT []
xref: GARD:10520
xref: MESH:C557818
xref: ORDO:141007
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4501 ! orofaciodigital syndrome
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0060383
name: acrofacial dysostosis Rodriguez type
alt_id: MIM:201170
alt_id: RDO:0004126
def: "An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. (DO)" [https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type "DO"]
synonym: "Acrofacial Dysostosis Syndrome Of Rodriguez" EXACT []
synonym: "Rodriguez lethal acrofacial dysostosis syndrome" EXACT []
xref: GARD:496
xref: MESH:C538183
xref: ORDO:1788
is_a: DOID:0060379 ! acrofacial dysostosis
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:0060384
name: acrofacial dysostosis, Catania type
alt_id: MIM:101805
alt_id: RDO:0004125
def: "An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. (DO)" [https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type "DO"]
synonym: "Acrofacial Dysostosis Catania Form" EXACT []
synonym: "Opitz-Caltabiano syndrome" EXACT []
synonym: "Opitz Mollica Sorge syndrome" EXACT []
xref: GARD:494
xref: MESH:C538182
xref: ORDO:1786
is_a: DOID:0060379 ! acrofacial dysostosis
is_a: DOID:9007917 ! Supernumerary Tooth
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:0060385
name: acrofacial dysostosis, Patagonia type
alt_id: MIM:601829
alt_id: RDO:0004128
def: "An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance. (DO)" [https://omim.org/entry/601829 "DO"]
synonym: "Palagonia type of acrofacial dysostosis" EXACT []
xref: MESH:C538185
xref: ORDO:1787
is_a: DOID:0060379 ! acrofacial dysostosis
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007917 ! Supernumerary Tooth
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:0060386
name: Chilblain lupus
def: "A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene. (DO)" [https://www.omim.org/entry/610448 "DO"]
synonym: "CHILBLAIN LUPUS ERYTHEMATOSUS" EXACT []
xref: MIM:PS610448
xref: ORDO:90280
is_a: DOID:0050169 ! cutaneous lupus erythematosus
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0060387
name: chondrodysplasia Blomstrand type
alt_id: MIM:215045
def: "An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. (DO)" [https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type "DO"]
synonym: "Blomstrand lethal chondrodysplasia" EXACT []
synonym: "Blomstrand lethal osteochondrodysplasia" EXACT []
synonym: "Blomstrand osteochondrodysplasia" EXACT []
synonym: "Blomstrand syndrome" EXACT []
synonym: "BOCD" EXACT []
synonym: "lethal congenital dwarfism with accelerated skeletal maturation" EXACT []
xref: GARD:914
xref: MESH:C537914
xref: NCI:C131420
xref: ORDO:50945
is_a: DOID:206 ! hereditary multiple exostoses
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0060388
name: chromosomal deletion syndrome
def: "A chromosomal disease that has_material_basis_in partial deletion of chromosomes. (DO)" [https://en.wikipedia.org/wiki/Chromosomal_deletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome "DO", https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK23758/ "DO"]
synonym: "chromosome deletion syndrome" EXACT []
is_a: DOID:225 ! syndrome
is_a: DOID:9008165 ! Chromosome Deletion
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060389
name: chromosome 10q23 deletion syndrome
alt_id: MIM:612242
def: "A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21248748 "DO"]
xref: MESH:C567385
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:9001441 ! Adenomatous Polyps

[Term]
id: DOID:0060390
name: distal 10q deletion syndrome
alt_id: MIM:609625
alt_id: RDO:0015324
def: "A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. (DO)" [https://rarediseases.info.nih.gov/diseases/3711/chromosome-10q-deletion "DO"]
synonym: "chromosome 10q26 deletion syndrome" EXACT []
synonym: "distal monosomy 10q" EXACT []
synonym: "monosomy 10qter" EXACT []
synonym: "telomeric deletion 10q" EXACT []
synonym: "Terminal Chromosome 10q26 Deletion Syndrome" EXACT []
xref: MESH:C567182
xref: ORDO:96148
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:8927 ! learning disability
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:0060391
name: chromosome 13q14 deletion syndrome
def: "A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. (DO)" [https://rarediseases.org/rare-diseases/chromosome-13-partial-monosomy-13q/ "DO"]
synonym: "deletion 13q14" EXACT []
xref: MIM:613884
xref: ORDO:1587
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:768 ! retinoblastoma
is_a: DOID:9007657 ! Chromosome 13q Deletion Syndrome
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060392
name: chromosome 14q11-q22 deletion syndrome
def: "A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21744488 "DO"]
synonym: "14q11.2 microdeletion syndrome" EXACT []
synonym: "Zahir-Friedman syndrome" EXACT []
xref: MIM:613457
xref: ORDO:261120
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060393
name: chromosome 15q11.2 deletion syndrome
alt_id: MIM:615656
def: "A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)" [https://www.omim.org/entry/615656 "DO"]
synonym: "15q11.2 microdeletion" EXACT []
synonym: "15q11.2 microdeletion syndrome" EXACT []
synonym: "chromosome 15q11-q13 duplication syndrome" EXACT []
synonym: "duplication 15q11-q13 syndrome" EXACT []
xref: MESH:C557830
xref: ORDO:261183
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability

[Term]
id: DOID:0060394
name: chromosome 15q13.3 microdeletion syndrome
alt_id: MIM:612001
def: "A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)" [https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome "DO"]
synonym: "15q13.3 microdeletion" EXACT []
synonym: "15q13.3 microdeletion syndrome" EXACT []
synonym: "chromosome 15q13.3 deletion syndrome" EXACT []
xref: GARD:10296
xref: MESH:C567439
xref: ORDO:199318
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy

[Term]
id: DOID:0060395
name: chromosome 15q24 deletion syndrome
alt_id: MIM:613406
def: "A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. (DO)" [https://www.omim.org/entry/613406 "DO"]
synonym: "15q24 deletion" EXACT []
synonym: "15q24 microdeletion" EXACT []
synonym: "15q24 microdeletion syndrome" EXACT []
synonym: "interstitial deletion of chromosome 15q24" EXACT []
synonym: "SIN3A-RELATED CONDITION" EXACT []
synonym: "SIN3A-RELATED INTELLECTUAL DISABILITY SYNDROME" EXACT []
synonym: "WITKOS" EXACT []
synonym: "Witteveen-Kolk syndrome" EXACT []
xref: GARD:12219
xref: MESH:C579849
xref: ORDO:94065
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability

[Term]
id: DOID:0060396
name: chromosome 15q25 deletion syndrome
def: "A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15. (DO)" [https://rarediseases.info.nih.gov/diseases/10990/chromosome-15q252-microdeletion "DO"]
xref: MIM:614294
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060397
name: chromosome 15q26-qter deletion syndrome
alt_id: MIM:612626
def: "A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18651844 "DO"]
synonym: "15q26 deletion syndrome" EXACT []
synonym: "distal 15q deletion syndrome" EXACT []
synonym: "distal monosomy 15q" EXACT []
synonym: "Drayer Syndrome" EXACT []
synonym: "telomeric 15q deletion syndrome" EXACT []
xref: MESH:C567232
xref: ORDO:1596
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060398
name: chromosome 16p11.2 deletion syndrome, 220-kb
def: "A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20808231 "DO"]
synonym: "chromosome 16p11.2 deletion syndrome" EXACT []
synonym: "distal 16p11.2 microdeletion syndrome" EXACT []
xref: MIM:613444
xref: NCI:C120408
xref: ORDO:261222
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060399
name: chromosome 16p12.1 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20154674 "DO"]
synonym: "chromosome 16p12.1 deletion syndrome, 520kb" EXACT []
xref: MIM:136570
xref: NCI:C129875
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060400
name: chromosome 16p12.2-p11.2 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19449418 "DO"]
synonym: "16p11.2-p12.2 microdeletion syndrome" EXACT []
synonym: "16p11.2p12.2 microdeletion syndrome" EXACT []
xref: MIM:613604
xref: ORDO:261211
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060401
name: chromosome 16q22 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1605249 "DO"]
xref: MIM:614541
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060402
name: chromosome 17p13.1 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19617690 "DO"]
xref: GARD:10996
xref: MIM:613776
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:0060403
name: chromosome 17q11.2 deletion syndrome
alt_id: MIM:613675
alt_id: MIM:614192
def: "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10631140/ "DO"]
synonym: "17q11 microdeletion syndrome" EXACT []
synonym: "chromosome 17q11.2 deletion syndrome, 1.4Mb" EXACT []
synonym: "macrocephaly, macrosomia, and facial dysmorphism syndrome" EXACT []
synonym: "macrocephaly, macrosomia, facial dysmorphism syndrome" EXACT []
synonym: "MMFD" EXACT []
synonym: "neurofibromatosis type 1 microdeletion syndrome" EXACT []
synonym: "NF1 microdeletion syndrome" EXACT []
synonym: "Van Asperen syndrome" EXACT []
xref: ICD10CM:Q85.0
xref: MESH:C563524
xref: ORDO:97685
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:8712 ! neurofibromatosis
is_a: DOID:8927 ! learning disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9002427 ! Fetal Macrosomia
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060404
name: chromosome 17q12 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. (DO)" [https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome "DO"]
synonym: "17q12 microdeletion syndrome" EXACT []
xref: GARD:13297
xref: MIM:614527
xref: ORDO:261265
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2015-11-10T00:00:00Z

[Term]
id: DOID:0060405
name: chromosome 17q23.1-q23.2 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20598276 "DO"]
synonym: "17q23.1-q23.2 microdeletion syndrome" EXACT []
synonym: "17q23.1q23.2 microdeletion syndrome" EXACT []
xref: GARD:10936
xref: MIM:613355
xref: ORDO:261279
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060406
name: chromosome 18p deletion syndrome
alt_id: MIM:146390
def: "A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16691587 "DO"]
synonym: "18p deletion syndrome" EXACT []
synonym: "18p minus syndrome" EXACT []
synonym: "18p- syndrome" EXACT []
synonym: "De Grouchy syndrome" EXACT []
synonym: "Del(18p) syndrome" EXACT []
synonym: "monosomy 18p" EXACT []
xref: GARD:8631
xref: MESH:C538309
xref: NCI:C84521
xref: ORDO:1598
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome

[Term]
id: DOID:0060407
name: chromosome 18q deletion syndrome
alt_id: MIM:601808
def: "A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. (DO)" [https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome "DO", https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome "DO"]
synonym: "18q syndrome" EXACT []
synonym: "chromosome 18, monosomy 18Q" EXACT []
synonym: "chromosome 18q syndrome" EXACT []
synonym: "deletion 18q" EXACT []
synonym: "monosomy 18q" EXACT []
synonym: "monosomy 18q, deletion 18q" EXACT []
synonym: "monosomy 18q syndrome" EXACT []
xref: MESH:C536580
xref: ORDO:1600
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome

[Term]
id: DOID:0060408
name: chromosome 19q13.11 deletion syndrome
alt_id: MIM:613026
def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24243649 "DO"]
synonym: "19q13.11 microdeletion syndrome" EXACT []
synonym: "chromosome 19q13.11 deletion syndrome, distal" EXACT []
synonym: "monosomy 19q13.11" EXACT []
xref: GARD:10592
xref: MESH:C567810
xref: ORDO:217346
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060409
name: NFIA-related disorder
def: "A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK542336/ "DO"]
synonym: "1p31p32 microdeletion syndrome" RELATED []
synonym: "brain malformations with or without urinary tract defects" EXACT []
synonym: "BRMUTD" EXACT []
synonym: "chromosome 1p32-p31 deletion syndrome" RELATED []
synonym: "NFIA-RELATED CONDITION" EXACT []
xref: MIM:613735
xref: ORDO:401986
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:9006534 ! Nervous System Malformations
is_a: DOID:9008657 ! Urinary Tract Abnormalities

[Term]
id: DOID:0060410
name: chromosome 1p36 deletion syndrome
alt_id: MIM:607872
def: "A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. (DO)" [https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome "DO"]
synonym: "1p36.33 deletion" EXACT []
synonym: "1p36 deletion syndrome" EXACT []
synonym: "chromosome 1, 1p36 deletion syndrome" EXACT []
synonym: "chromosome 1p36 deletion syndrome, distal" EXACT []
synonym: "deletion 1p36" EXACT []
synonym: "monosomy 1p36" EXACT []
synonym: "monosomy 1p36 syndrome" EXACT []
synonym: "subtelomeric 1p36 deletion" RELATED []
xref: GARD:6082
xref: MESH:C535362
xref: NCI:C74983
xref: ORDO:1606
is_a: DOID:0060388 ! chromosomal deletion syndrome

[Term]
id: DOID:0060411
name: chromosome 1q21.1 deletion syndrome
alt_id: MIM:612474
def: "A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. (DO)" [https://ghr.nlm.nih.gov/condition/1q211-microdeletion "DO"]
synonym: "1q21.1 contiguous gene deletion" EXACT []
synonym: "1q21.1 Deletion" EXACT []
synonym: "1q21.1 Microdeletion" EXACT []
synonym: "1q21.1 microdeletion syndrome" EXACT []
synonym: "chromosome 1q21.1 deletion syndrome, 1.35-Mb" EXACT []
synonym: "monosomy 1q21.1" RELATED []
xref: GARD:10813
xref: MESH:C567291
xref: ORDO:250989
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060412
name: chromosome 1q41-q42 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736036/ "DO"]
synonym: "1q41-q42 microdeletion syndrome" EXACT []
synonym: "1q41q42 microdeletion syndrome" EXACT []
xref: GARD:3738
xref: MIM:612530
xref: MONDO:0012927
xref: ORDO:250999
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:4621 ! holoprosencephaly
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060413
name: chromosome 22q11.2 deletion syndrome, distal
alt_id: MIM:611867
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18179902/ "DO", https://research.nhgri.nih.gov/atlas/condition/22q11-2-deletion-syndrome "DO"]
synonym: "DiGeorge syndrome and Velocardiofacial syndrome" EXACT []
synonym: "distal 22q11.2 microdeletion syndrome" EXACT []
xref: MESH:C567511
xref: ORDO:261330
is_a: DOID:9001460 ! 22q11 Deletion Syndrome

[Term]
id: DOID:0060414
name: chromosome 2p12-p11.2 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19764038/ "DO"]
xref: MIM:613564
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060415
name: chromosome 2p16.1-p15 deletion syndrome
alt_id: MIM:612513
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26019277/ "DO"]
synonym: "2p15-p16.1 microdeletion syndrome" EXACT []
synonym: "2p15p16.1 microdeletion syndrome" EXACT []
xref: GARD:13391
xref: ICD10CM:Q93.5
xref: MESH:C567289
xref: ORDO:261349
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060416
name: chromosome 2q31.2 deletion syndrome
alt_id: MIM:612345
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19248183/ "DO"]
xref: MESH:C567344
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060417
name: 3p deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. (DO)" [https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/19760623 "DO"]
synonym: "3p- syndrome" EXACT []
synonym: "chromosome 3pter-P25 deletion syndrome" EXACT []
synonym: "distal monosomy 3p" EXACT []
xref: MIM:613792
xref: ORDO:1620
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:10907 ! microcephaly
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:0060418
name: chromosome 3q13.31 deletion syndrome
alt_id: MIM:615433
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22180640/ "DO"]
synonym: "3q13 microdeletion syndrome" EXACT []
synonym: "chromosome 3, monosomy 3q13" EXACT []
synonym: "deletion 3q13" EXACT []
synonym: "monosomy 3q13" EXACT []
xref: MESH:C536808
xref: ORDO:1621
is_a: DOID:0060388 ! chromosomal deletion syndrome

[Term]
id: DOID:0060419
name: chromosome 3q29 microdeletion syndrome
alt_id: MIM:609425
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region. (DO)" [https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK385289/ "DO"]
synonym: "3q29 recurrent deletion" EXACT []
synonym: "3q subtelomere deletion syndrome" EXACT []
synonym: "3qter deletion" EXACT []
synonym: "microdeletion 3q29 syndrome" EXACT []
xref: GARD:11974
xref: MESH:C567184
xref: ORDO:65286
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:0060420
name: chromosome 4q21 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20522426/ "DO"]
synonym: "4q21 microdeletion syndrome" EXACT []
synonym: "monosomy 4q21" EXACT []
xref: MIM:613509
xref: ORDO:238750
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060421
name: chromosome 5q12 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24203977/ "DO"]
xref: MIM:615668
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060422
name: chromosome 6pter-p24 deletion syndrome
alt_id: MIM:612582
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18629875/ "DO"]
synonym: "6p25 microdeletion syndrome" EXACT []
synonym: "6p subtelomeric deletion syndrome" EXACT []
synonym: "distal monosomy 6p" EXACT []
xref: MESH:C567239
xref: ORDO:96125
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:0060423
name: chromosome 6q11-q14 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19213033/ "DO"]
xref: MIM:613544
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060424
name: chromosome 6q24-q25 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17512813/ "DO"]
synonym: "6q25 microdeletion syndrome" EXACT []
synonym: "monosomy 6q25" EXACT []
xref: MIM:612863
xref: ORDO:251056
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060425
name: chromosome 8q21.11 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21802062/ "DO"]
synonym: "8q21.11 microdeletion syndrome" EXACT []
xref: MIM:614230
xref: ORDO:284160
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9005401 ! Chromosome 8 Deletion
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060426
name: chromosome 19p13.13 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity. (DO)" [https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome "DO"]
xref: MIM:613638
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060427
name: chromosome Xp21 deletion syndrome
def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17089405/ "DO"]
synonym: "complex glycerol kinase deficiency" EXACT []
synonym: "monosomy Xp21" EXACT []
synonym: "Xp21 microdeletion syndrome" EXACT []
xref: MIM:300679
xref: ORDO:261476
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060428
name: SATB2-associated syndrome
def: "A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. (DO)" [https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK458647/ "DO"]
synonym: "2q32-q33 microdeletion syndrome" EXACT []
synonym: "2q32q33 microdeletion syndrome" EXACT []
synonym: "chromosome 2q32-q33 deletion syndrome" EXACT []
synonym: "Glass" EXACT []
synonym: "Glass Syndrome" EXACT []
synonym: "monosomy 2q32" EXACT []
synonym: "monosomy 2q32-q33" EXACT []
synonym: "monosomy 2q32q33" EXACT []
synonym: "SATB2 ASSOCIATED DISORDER" EXACT []
synonym: "SATB2-RELATED CONDITION" EXACT []
synonym: "SATB2-related disorder" EXACT []
xref: MESH:C567350
xref: MIM:612313
xref: MONDO:0012864
xref: ORDO:251019
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060429
name: chromosomal duplication syndrome
def: "A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. (DO)" [https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/ "DO"]
synonym: "Chromosomal Duplication" EXACT []
synonym: "chromosomal duplications" EXACT []
synonym: "Chromosome Duplication" EXACT []
synonym: "chromosome duplications" EXACT []
xref: MESH:D058674
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:0060430
name: chromosome 16p11.2 duplication syndrome
def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. (DO)" [https://ghr.nlm.nih.gov/condition/16p112-duplication "DO"]
synonym: "proximal 16p11.2 microduplication syndrome" EXACT []
synonym: "proximal dup(16)(p11.2)" EXACT []
synonym: "proximal trisomy 16p11.2" EXACT []
xref: GARD:12388
xref: MIM:614671
xref: MONDO:0013847
xref: ORDO:370079
is_a: DOID:0060429 ! chromosomal duplication syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060431
name: chromosome 16p13.3 duplication syndrome
def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19833603/ "DO"]
synonym: "16p13.3 microduplication syndrome" EXACT []
synonym: "distal duplication 16p" EXACT []
synonym: "distal trisomy 16p" EXACT []
synonym: "telomeric duplication 16p" EXACT []
xref: MIM:613458
xref: ORDO:96078
is_a: DOID:0060429 ! chromosomal duplication syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060432
name: chromosome 17p13.3 duplication syndrome
def: "A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE  gene on chromosome 17p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19136950/ "DO"]
synonym: "17p13.3 duplication syndrome" EXACT []
synonym: "17p13.3 microduplication syndrome" EXACT []
synonym: "chromosome 17p13.3 centromeric duplication syndrome" EXACT []
synonym: "trisomy 17p13.3" EXACT []
xref: MESH:C567705
xref: MIM:613215
xref: MONDO:0013182
xref: ORDO:217385
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:9006534 ! Nervous System Malformations
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:0060433
name: chromosome 17q12 duplication syndrome
def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region. (DO)" [https://ghr.nlm.nih.gov/condition/17q12-duplication "DO", https://www.ncbi.nlm.nih.gov/books/NBK344340/ "DO"]
synonym: "17q12 microduplication syndrome" EXACT []
synonym: "trisomy 17q12" EXACT []
xref: GARD:13296
xref: MIM:614526
xref: ORDO:261272
is_a: DOID:0060429 ! chromosomal duplication syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060434
name: chromosome 17q21.31 duplication syndrome
def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19502243/ "DO"]
synonym: "17q21.31 microduplication syndrome" EXACT []
synonym: "trisomy 17q21.31" EXACT []
xref: ICD10CM:Q92.3
xref: MIM:613533
xref: ORDO:217340
is_a: DOID:0060429 ! chromosomal duplication syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060435
name: chromosome 1q21.1 duplication syndrome
alt_id: MIM:612475
def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region. (DO)" [https://ghr.nlm.nih.gov/condition/1q211-microduplication "DO"]
synonym: "1q21.1 microduplication syndrome" EXACT []
synonym: "trisomy 1q21.1" EXACT []
xref: GARD:10591
xref: MESH:C567290
xref: ORDO:250994
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12849 ! autistic disorder
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:0060436
name: chromosome 22q11.2 microduplication syndrome
alt_id: MIM:608363
def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. (DO)" [https://ghr.nlm.nih.gov/condition/22q112-duplication "DO"]
synonym: "22q11.2 duplication" EXACT []
synonym: "22q11.2 microduplication syndrome" EXACT []
synonym: "chromosome 22q11.2 duplication syndrome" EXACT []
synonym: "trisomy 22q11.2" EXACT []
xref: MESH:C567224
xref: ORDO:1727
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:11198 ! DiGeorge syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060437
name: chromosome 22q13 duplication syndrome
def: "A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24153177/ "DO"]
xref: MIM:615538
xref: MONDO:0014235
is_a: DOID:0060429 ! chromosomal duplication syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060438
name: Cole-Carpenter syndrome
def: "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10842295 "DO"]
synonym: "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features" EXACT []
xref: MESH:C535963
xref: MIM:PS112240
xref: NCI:C130985
xref: ORDO:2050
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:12347 ! osteogenesis imperfecta
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:0060439
name: lysinuric protein intolerance
alt_id: MIM:222700
def: "An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. (DO)" [http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance "DO", http://www.ncbi.nlm.nih.gov/books/NBK1361/ "DO", https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance "DO", https://www.ncbi.nlm.nih.gov/pubmed/1155480 "DO"]
synonym: "Dibasic Amino Aciduria II" EXACT []
synonym: "Hyperdibasic Aminoaciduria" EXACT []
synonym: "LPI" EXACT []
synonym: "LPI - Lysinuric Protein Intolerance" EXACT []
synonym: "SLC7A7-RELATED CONDITION" EXACT []
xref: GARD:3335
xref: MESH:C562687
xref: NCI:C121563
xref: ORDO:470
xref: RDO:0012291
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0060440
name: epithelial and subepithelial dystrophy
def: "A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19236704 "DO"]
xref: RDO:9004322
is_a: DOID:2566 ! corneal dystrophy
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0060441
name: epithelial-stromal TGFBI dystrophy
def: "A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. (DO)" [https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm "DO"]
xref: RDO:9004323
is_a: DOID:2566 ! corneal dystrophy
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0060442
name: stromal dystrophy
def: "A corneal dystrophy that affects the corneal stroma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19236704 "DO"]
xref: RDO:9004324
is_a: DOID:2566 ! corneal dystrophy
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0060443
name: corneal endothelial dystrophy
def: "A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19236704 "DO"]
synonym: "dystrophy of corneal endothelium" EXACT []
synonym: "endothelial dystrophy" EXACT []
is_a: DOID:2566 ! corneal dystrophy
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0060444
name: granular corneal dystrophy 2
alt_id: MIM:607541
def: "An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface. (DO)" [https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm "DO", https://www.omim.org/entry/607541 "DO"]
synonym: "ACD" EXACT []
synonym: "Avellino corneal dystrophy" EXACT []
synonym: "CDA" EXACT []
synonym: "CGD2" EXACT []
synonym: "combined granular-lattice corneal dystrophies" EXACT []
synonym: "combined granular-lattice corneal dystrophy" EXACT []
synonym: "corneal dystrophy, Avellino type" EXACT []
synonym: "granular and lattice corneal dystrophies" EXACT []
synonym: "granular corneal dystrophy type 2" EXACT []
synonym: "granular corneal dystrophy type II" EXACT []
synonym: "granular-lattice (Avellino) corneal dystrophy" EXACT []
xref: EFO:0004882
xref: MESH:C535474
xref: MONDO:0011855
xref: ORDO:98963
is_a: DOID:12318 ! granular corneal dystrophy

[Term]
id: DOID:0060445
name: congenital stromal corneal dystrophy
alt_id: MIM:610048
def: "A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy "DO", https://www.ncbi.nlm.nih.gov/books/NBK2690/ "DO"]
synonym: "congenital hereditary stromal dystrophy" EXACT []
synonym: "congenital hereditary stromal dystrophy of the cornea" EXACT []
synonym: "congenital stromal dystrophy of the cornea" EXACT []
synonym: "CSCD" EXACT []
synonym: "decorin-associated congenital stromal corneal dystrophy" EXACT []
synonym: "dystrophia corneae parenchymatosa congenita" EXACT []
xref: MESH:C566452
xref: ORDO:101068
is_a: DOID:0060442 ! stromal dystrophy
is_a: DOID:0080015 ! physical disorder

[Term]
id: DOID:0060446
name: X-linked endothelial corneal dystrophy
alt_id: MIM:300779
def: "A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16490493/ "DO"]
synonym: "XECD" EXACT []
xref: ICD10CM:H18.5
xref: MESH:C567587
xref: ORDO:293621
is_a: DOID:0060443 ! corneal endothelial dystrophy
is_a: DOID:0080009 ! X-linked dominant disease

[Term]
id: DOID:0060447
name: epithelial basement membrane dystrophy
alt_id: MIM:121820
def: "An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16652336/ "DO"]
synonym: "anterior basement membrane corneal dystrophy" EXACT []
synonym: "Cogan corneal dystrophy" EXACT []
synonym: "corneal dystrophy, Cogan type" EXACT []
synonym: "Corneal Dystrophy, Map-Dot-Fingerprint Type" EXACT []
synonym: "EBMD" EXACT []
synonym: "map-dot-fingerprint dystrophy of cornea" EXACT []
synonym: "microcystic corneal dystrophy" EXACT []
synonym: "microcystic dystrophy of the cornea" EXACT []
xref: MESH:C535477
xref: ORDO:98956
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060216 ! Cogan syndrome
is_a: DOID:0060440 ! epithelial and subepithelial dystrophy

[Term]
id: DOID:0060448
name: Fleck corneal dystrophy
alt_id: MIM:121850
def: "A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23288988/ "DO", https://pubmed.ncbi.nlm.nih.gov/26396486 "DO"]
synonym: "CFD" EXACT []
synonym: "FCD" EXACT []
synonym: "Francois-Neetens corneal dystrophy, speckled or flecked" EXACT []
synonym: "Francois-Neetens speckled corneal dystrophy" EXACT []
xref: MESH:C563256
xref: ORDO:98970
is_a: DOID:0060442 ! stromal dystrophy

[Term]
id: DOID:0060449
name: gelatinous drop-like corneal dystrophy
alt_id: MIM:204870
def: "An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10192395/ "DO"]
synonym: "amyloid corneal dystrophy, Japanese type" EXACT []
synonym: "CDGDL" EXACT []
synonym: "Corneal amyloidosis" EXACT []
synonym: "GDCD" EXACT []
synonym: "GDLD" EXACT []
synonym: "lattice corneal dystrophy type3" EXACT []
synonym: "lattice corneal dystrophy, type 3" EXACT []
synonym: "lattice corneal dystrophy type III" EXACT []
synonym: "primary familial amyloidosis of the cornea" EXACT []
synonym: "subepithelial amyloidosis of the cornea" EXACT []
xref: MESH:C535480
xref: NCI:C142805
xref: ORDO:98957
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060440 ! epithelial and subepithelial dystrophy
is_a: DOID:8943 ! lattice corneal dystrophy

[Term]
id: DOID:0060450
name: Lisch epithelial corneal dystrophy
alt_id: MIM:620763
def: "An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11024418/ "DO", https://pubmed.ncbi.nlm.nih.gov/37972748/ "DO"]
synonym: "band-shaped and whorled microcystic" RELATED []
synonym: "band-shaped and whorled microcystic corneal epithelial dystrophy" EXACT []
synonym: "LECD" EXACT []
xref: MESH:C567588
xref: ORDO:98955
is_a: DOID:0060440 ! epithelial and subepithelial dystrophy
is_a: DOID:0080009 ! X-linked dominant disease

[Term]
id: DOID:0060451
name: Meesmann corneal dystrophy
def: "An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. (DO)" [https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy "DO"]
synonym: "juvenile epithelial corneal dystrophy of Meesmann" EXACT []
synonym: "Juvenile Hereditary Epithelial Dystrophy" EXACT []
synonym: "MECD" EXACT []
synonym: "Meesman's corneal dystrophy" EXACT []
synonym: "Meesmann corneal dystrophies" EXACT []
synonym: "Meesmann corneal epithelial dystrophy" EXACT []
synonym: "Stocker-Holt dystrophy" EXACT []
xref: GARD:9688
xref: ICD10CM:H18.52
xref: ICD9CM:371.51
xref: MESH:D053559
xref: MIM:PS122100
xref: NCI:C84795
xref: ORDO:98954
is_a: DOID:0060440 ! epithelial and subepithelial dystrophy

[Term]
id: DOID:0060452
name: posterior amorphous corneal dystrophy
def: "A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27096414/ "DO"]
synonym: "chromosome 12q21.33 deletion syndrome" EXACT []
synonym: "PACD" EXACT []
xref: MESH:C567546
xref: MIM:612868
xref: MONDO:0013027
xref: ORDO:98971
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:0060442 ! stromal dystrophy

[Term]
id: DOID:0060453
name: Reis-Bucklers corneal dystrophy
alt_id: MIM:608470
def: "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO)" [https://www.omim.org/entry/608470 "DO"]
synonym: "anterior limiting membrane dystrophy type I" EXACT []
synonym: "CDB1" EXACT []
synonym: "CDRB" EXACT []
synonym: "corneal dystrophy of Bowman layer, type 1" EXACT []
synonym: "corneal dystrophy of Bowman layer, type I" EXACT []
synonym: "corneal dystrophy, Reis-Bucklers type" EXACT []
synonym: "geographic corneal dystrophy" EXACT []
synonym: "granular corneal dystrophy type III" EXACT []
synonym: "RBCD" EXACT []
synonym: "Reis-Bucklers dystrophy" EXACT []
xref: MESH:C535476
xref: ORDO:98961
is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy
is_a: DOID:2566 ! corneal dystrophy

[Term]
id: DOID:0060454
name: subepithelial mucinous corneal dystrophy
alt_id: MIM:612867
def: "An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8352693/ "DO"]
synonym: "SMCD" EXACT []
xref: MESH:C567547
xref: ORDO:98959
is_a: DOID:0060440 ! epithelial and subepithelial dystrophy

[Term]
id: DOID:0060455
name: Thiel-Behnke corneal dystrophy
alt_id: MIM:602082
def: "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO)" [https://www.omim.org/entry/602082 "DO"]
synonym: "anterior limiting membrane dystrophy type II" EXACT []
synonym: "CDB2" EXACT []
synonym: "CDTB" EXACT []
synonym: "corneal dystrophy honeycomb-shaped" EXACT []
synonym: "corneal dystrophy of Bowman layer, type II" EXACT []
synonym: "corneal dystrophy of the Bowman layer, type 2" EXACT []
synonym: "corneal dystrophy, Thiel-Behnke type" EXACT []
synonym: "TBCD" EXACT []
synonym: "Waardenburg-Jonker corneal dystrophy" EXACT []
xref: MESH:C535942
xref: ORDO:98960
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy

[Term]
id: DOID:0060456
name: Schnyder corneal dystrophy
alt_id: MIM:121800
def: "A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23169578/ "DO"]
synonym: "corneal dystrophy crystalline of Schnyder" EXACT []
synonym: "crystalline stromal dystrophy" EXACT []
synonym: "hereditary crystalline stromal dystrophy of Schnyder" EXACT []
synonym: "SCCD" EXACT []
synonym: "Schnyder crystalline corneal dystrophy" EXACT []
xref: GARD:9277
xref: MESH:C535475
xref: ORDO:98967
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060442 ! stromal dystrophy

[Term]
id: DOID:0060457
name: posterior polymorphous corneal dystrophy
def: "A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer. (DO)" [https://en.wikipedia.org/wiki/Posterior_polymorphous_corneal_dystrophy "DO"]
synonym: "hereditary polymorphus posterior corneal dystrophy" EXACT []
synonym: "PPCD" EXACT []
synonym: "Schlichting dystrophy" EXACT []
xref: MIM:PS122000
xref: ORDO:98973
is_a: DOID:2566 ! corneal dystrophy
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0060458
name: chromosome 2q31.1 duplication syndrome
def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20577005/ "DO"]
xref: MIM:613681
xref: MONDO:0013363
is_a: DOID:0060429 ! chromosomal duplication syndrome
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:0060459
name: chromosome 3q29 microduplication syndrome
def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region. (DO)" [https://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome "DO"]
synonym: "3q29 microduplication" EXACT []
synonym: "chromosome 3q29 duplication syndrome" EXACT []
synonym: "microduplication 3q29 syndrome" EXACT []
synonym: "trisomy 3q29" EXACT []
xref: GARD:10360
xref: MESH:C567626
xref: MIM:611936
xref: ORDO:251038
is_a: DOID:0060429 ! chromosomal duplication syndrome

[Term]
id: DOID:0060460
name: chromosome 5p13 duplication syndrome
alt_id: MIM:613174
def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19052029/ "DO"]
synonym: "5p13 microduplication syndrome" EXACT []
synonym: "trisomy 5p13" EXACT []
xref: MESH:C567717
xref: ORDO:329802
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060461
name: chromosome Xp11.23-p11.22 duplication syndrome
alt_id: MIM:300801
def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19716111/ "DO"]
synonym: "microduplication Xp11.22-p11.23 syndrome" EXACT []
synonym: "trisomy Xp11.22-p11.23" EXACT []
xref: ICD10CM:Q99.8
xref: MESH:C567585
xref: ORDO:217377
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:0060462
name: Desbuquois dysplasia
def: "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19853239 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21037275 "DO"]
synonym: "Desbuquois dysplasia, Kim variant" NARROW []
synonym: "Desbuquois Syndrome" EXACT []
synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" EXACT []
xref: GARD:1818
xref: MESH:C535943
xref: MIM:PS251450
xref: NCI:C124056
xref: ORDO:1425
is_a: DOID:1148 ! polydactyly
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9003295 ! Heterotopic Ossification
is_a: DOID:9005077 ! Joint Instability
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060463
name: NUT midline carcinoma
def: "A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. (DO)" [https://en.wikipedia.org/wiki/NUT_midline_carcinoma "DO", https://omim.org/entry/608749 "DO", https://omim.org/entry/608963 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21221870 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25685583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26378054 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26402248 "DO"]
synonym: "nuclear protein in testis midline carcinoma" EXACT []
xref: EFO:0005783
xref: NCI:C45716
xref: ORDO:443167
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:0060464
name: Feingold syndrome
def: "A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. (DO)" [http://ghr.nlm.nih.gov/condition/feingold-syndrome "DO", https://en.wikipedia.org/wiki/Feingold_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/14518066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16906565 "DO"]
synonym: "Brunner Winter syndrome" EXACT []
synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" EXACT []
synonym: "FGLDS" EXACT []
synonym: "microcephaly and digital abnormalities with normal intelligence" EXACT []
synonym: "microcephaly-digital anomalies-normal intelligence syndrome" EXACT []
synonym: "Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome" EXACT []
synonym: "Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula (MMT) Syndrome" EXACT []
synonym: "Microcephaly-Oculo-Digito-Esophageal-Duodenal (MODED) Syndrome" EXACT []
synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome" EXACT []
synonym: "MMT syndrome" EXACT []
synonym: "MODED" EXACT []
synonym: "MODED syndrome" EXACT []
synonym: "oculo-digito-esophageal-duodenal syndrome" EXACT []
synonym: "oculodigitoesophagoduodenal syndrome" EXACT []
synonym: "oculo-digito-esophagoduodental (ODED) syndrome" EXACT []
synonym: "ODED" EXACT []
synonym: "ODED syndrome" EXACT []
xref: GARD:8407
xref: MESH:C537734
xref: MIM:PS164280
xref: ORDO:1305
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008498 ! Tracheoesophageal Fistula

[Term]
id: DOID:0060465
name: fibrochondrogenesis
def: "An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen. (DO)" [https://ghr.nlm.nih.gov/condition/fibrochondrogenesis "DO"]
xref: GARD:2321
xref: MESH:C562524
xref: MIM:PS228520
xref: ORDO:2021
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0060466
name: gingival fibromatosis
def: "A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11868160 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17385395 "DO"]
synonym: "fibromatosis gingivae" EXACT []
synonym: "gingival fibromatoses" EXACT []
synonym: "hereditary gingival fibromatosis" EXACT []
synonym: "hereditary gingival hyperplasia" EXACT []
xref: MESH:D005351
xref: MIM:PS135300
xref: ORDO:2024
is_a: DOID:3086 ! gingival overgrowth
is_a: DOID:9001018 ! Mouth Abnormalities

[Term]
id: DOID:0060467
name: humeroradial synostosis
alt_id: MIM:143050
alt_id: MIM:236400
def: "A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. (DO)" [https://rarediseases.info.nih.gov/diseases/2748/humeroradial-synostosis "DO"]
synonym: "humero-radial fusion" EXACT []
synonym: "humero-radial synostosis" EXACT []
synonym: "Ramer Ladda syndrome" EXACT []
xref: GARD:2748
xref: MESH:C535284
xref: ORDO:3265
is_a: DOID:11971 ! synostosis

[Term]
id: DOID:0060468
name: Holt-Oram syndrome
alt_id: MIM:142900
alt_id: MIM:314600
def: "A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. (DO)" [http://ghr.nlm.nih.gov/condition/holt-oram-syndrome "DO", https://en.wikipedia.org/wiki/Holt-Oram_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/12223419 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12436037 "DO"]
synonym: "atriodigital dysplasia" EXACT []
synonym: "Atrio-Digital Syndrome" EXACT []
synonym: "Cardiac-Limb Syndrome" EXACT []
synonym: "Cervico-Oculo-Acoustic Syndrome" EXACT []
synonym: "CervicoOculoAcoustic Syndrome" EXACT []
synonym: "Heart-hand syndrome" EXACT []
synonym: "Heart-Hand Syndrome, Type 1" EXACT []
synonym: "HOS" EXACT []
synonym: "HOS1" EXACT []
synonym: "TBX5-RELATED CONDITION" EXACT []
synonym: "ventriculo-radial syndrome" EXACT []
synonym: "Wildervanck syndrome" EXACT []
xref: GARD:6666
xref: ICD10CM:Q87.2
xref: MESH:C535326
xref: NCI:C125592
xref: ORDO:392
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:225 ! syndrome
is_a: DOID:9004402 ! Congenital Upper Extremity Deformities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital

[Term]
id: DOID:0060469
name: Miller-Dieker lissencephaly syndrome
alt_id: RDO:9004023
def: "A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. (DO)" [http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome "DO", https://en.wikipedia.org/wiki/Miller-Dieker_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21239872 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9473821 "DO"]
synonym: "chromosome 17p13.3 deletion syndrome" EXACT []
synonym: "MDCR" EXACT []
synonym: "MDLS" EXACT []
synonym: "MDS" EXACT []
synonym: "MDS chromosome 17p13.3 deletion syndrome" EXACT []
synonym: "Miller-Dieker lissencephaly" EXACT []
synonym: "Miller-Dieker syndrome" EXACT []
synonym: "Miller-Dieker syndrome chromosome region" EXACT []
xref: ICD10CM:Q93.88
xref: MIM:247200
xref: NCI:C124852
xref: ORDO:531
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0060470
name: salt and pepper syndrome
alt_id: MIM:609056
def: "A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24026681 "DO"]
synonym: "Amish infantile epilepsy syndrome" EXACT []
synonym: "GM3 Synthase Deficiency" EXACT []
synonym: "INFANTILE EPILEPSY SYNDROME" EXACT []
synonym: "infantile-onset symptomatic epilepsy syndrome" EXACT []
synonym: "salt & pepper syndrome" EXACT []
synonym: "SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME" EXACT []
synonym: "salt and pepper mental retardation syndrome" EXACT []
synonym: "SPDRS" EXACT []
xref: MESH:C563799
xref: ORDO:370938
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0060471
name: fetal valproate syndrome
alt_id: MIM:609442
def: "A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17090909 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25400349 "DO"]
synonym: "fetal effects from dalpro" EXACT []
synonym: "fetal effects from epival" EXACT []
synonym: "fetal valproic acid syndrome" EXACT []
synonym: "fetal valproic syndrome" EXACT []
synonym: "foetal valproate syndrome" EXACT []
synonym: "foetal valproic acid syndrome" EXACT []
synonym: "Valproic Acid Antenatal Infection" EXACT []
synonym: "valproic acid embryopathy" EXACT []
xref: MESH:C536525
xref: NCI:C98930
xref: ORDO:1906
is_a: DOID:225 ! syndrome
is_a: DOID:9007828 ! Abnormalities, Drug-Induced

[Term]
id: DOID:0060472
name: Kindler syndrome
alt_id: MIM:173650
def: "A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. (DO)" [https://en.wikipedia.org/wiki/Kindler_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/12668616 "DO"]
synonym: "Bullous acrokeratotic poikiloderma of kindler and weary" EXACT []
synonym: "Congenital bullous poikiloderma" EXACT []
synonym: "FERMT1-RELATED CONDITION" EXACT []
synonym: "hereditary acrokeratotic poikiloderma of Kindler-Weary" EXACT []
synonym: "Kindler's syndrome" EXACT []
synonym: "KNDLRS" EXACT []
synonym: "Poikiloderma, congenital, with bullae, weary type" EXACT []
synonym: "Poikiloderma, hereditary acrokeratotic" EXACT []
synonym: "poikiloderma of Kindler" EXACT []
xref: GARD:4391
xref: MESH:C536321
xref: ORDO:306539
is_a: DOID:2730 ! epidermolysis bullosa
is_a: DOID:3159 ! photosensitivity disease
is_a: DOID:3388 ! periodontal disease
is_a: DOID:9008110 ! Blister

[Term]
id: DOID:0060473
name: Kabuki syndrome
def: "A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. (DO)" [http://ghr.nlm.nih.gov/condition/kabuki-syndrome "DO", https://en.wikipedia.org/wiki/Kabuki_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/25281733 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25972376 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26512256 "DO"]
synonym: "Kabuki make up syndrome" EXACT []
synonym: "Kabuki makeup syndrome" EXACT []
synonym: "KMS" EXACT []
synonym: "Niikawa-Kuroki syndrome" EXACT []
xref: GARD:6810
xref: MESH:C537705
xref: MIM:PS147920
xref: MONDO:0016512
xref: NCI:C124837
xref: ORDO:2322
is_a: DOID:225 ! syndrome
is_a: DOID:3426 ! vestibular disease
is_a: DOID:74 ! hematopoietic system disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060474
name: familial erythrocytosis 2
alt_id: MIM:263400
def: "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15725900 "DO"]
synonym: "autosomal recessive benign erythrocytosis" EXACT []
synonym: "Chuvash erythromatosis" EXACT []
synonym: "Chuvash polycythemia" EXACT []
synonym: "Chuvash type polycythemia" EXACT []
synonym: "ECYT2" EXACT []
synonym: "familial erythrocytosis 2, autosomal recessive" EXACT []
synonym: "polycythemia, VHL-dependent" EXACT []
xref: MESH:C563918
xref: ORDO:238557
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10780 ! primary polycythemia

[Term]
id: DOID:0060475
name: myoclonic-atonic epilepsy
alt_id: DOID:9002731
def: "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK589173/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23708187 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24207121 "DO"]
synonym: "childhood onset epileptic encephalopathy" EXACT []
synonym: "early life seizures" EXACT []
synonym: "early onset epileptic encephalopathy" EXACT []
synonym: "EEOC" EXACT []
synonym: "ELS" EXACT []
synonym: "GENERALIZED MYOCLONIC-ATONIC SEIZURE" EXACT []
synonym: "IECEE" EXACT []
synonym: "infantile epileptic encephalopathy" NARROW []
synonym: "infantile or early childhood epileptic encephalopathy" EXACT []
synonym: "infantile spasm" NARROW []
synonym: "MAE" EXACT []
synonym: "myoclonic-atonic seizure" EXACT []
synonym: "SLC6A1-RELATED CONDITION" EXACT []
synonym: "SLC6A1-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
synonym: "UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY" NARROW []
xref: MIM:616421
xref: NCI:C165674
xref: NCI:C172100
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:1827 ! idiopathic generalized epilepsy
is_a: DOID:9005154 ! Myoclonic Epilepsies

[Term]
id: DOID:0060476
name: Perlman syndrome
alt_id: MIM:267000
def: "A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. (DO)" [https://en.wikipedia.org/wiki/Perlman_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/18780370 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22306653 "DO"]
synonym: "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor" EXACT []
synonym: "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor" EXACT []
synonym: "PREDISPOSITION TO WILMS TUMOR" NARROW []
synonym: "PRLMNS" EXACT []
synonym: "renal hamartomas, nephroblastomatosis, and fetal gigantism" EXACT []
xref: GARD:3936
xref: MESH:C536399
xref: NCI:C103144
xref: ORDO:2849
is_a: DOID:2154 ! nephroblastoma
is_a: DOID:225 ! syndrome
is_a: DOID:9002427 ! Fetal Macrosomia

[Term]
id: DOID:0060478
name: Zika fever
def: "A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. (DO)" [http://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx "DO", http://www.who.int/mediacentre/factsheets/zika/en/ "DO", https://en.wikipedia.org/wiki/Zika_fever "DO", https://www.cdc.gov/zika/about/ "DO"]
synonym: "Zika virus disease" EXACT []
synonym: "Zika virus infection" EXACT []
xref: ICD10CM:A92.8
xref: MESH:D000071243
is_a: DOID:9004146 ! Flavivirus Infections
is_a: DOID:9007579 ! Arbovirus Infections
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:0060479
name: Shwachman-Diamond syndrome
alt_id: DOID:0080023
alt_id: MIM:260400
def: "A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. (DO)" [http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome "DO", https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/18356737 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22201042 "DO"]
synonym: "congenital lipomatosis of pancreas" EXACT []
synonym: "metaphyseal chondrodysplasia, Shwachman type" EXACT []
synonym: "pancreatic insufficiency and bone marrow dysfunction" EXACT []
synonym: "SDS" EXACT []
synonym: "SDS1" EXACT []
synonym: "Shwachman-Bodian-Diamond syndrome" EXACT []
synonym: "Shwachman-Bodian syndrome" EXACT []
synonym: "Shwachman-Diamond-Oski syndrome" EXACT []
synonym: "Shwachman-Diamond syndrome 1" EXACT []
synonym: "Shwachman-Diamond type metaphyseal dysplasia" EXACT []
synonym: "Shwachman syndrome" EXACT []
xref: GARD:4863
xref: MESH:D000081003
xref: MIM:PS260400
xref: NCI:C61235
is_a: DOID:0080019 ! metaphyseal dysplasia
is_a: DOID:13316 ! exocrine pancreatic insufficiency
is_a: DOID:3153 ! lipomatosis
is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes

[Term]
id: DOID:0060480
name: left ventricular noncompaction
def: "An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16567565 "DO"]
synonym: "left ventricular hypertrabeculation" EXACT []
synonym: "LVNC" EXACT []
synonym: "ncCM" EXACT []
synonym: "non-compaction cardiomyopathy" EXACT []
xref: EFO:0002632
xref: EFO:0004686
xref: GARD:10985
xref: HP:0011664
xref: MIM:PS604169
xref: MONDO:0018901
xref: ORDO:54260
is_a: DOID:0060036 ! intrinsic cardiomyopathy
is_a: DOID:9000596 ! Isolated Noncompaction of the Ventricular Myocardium

[Term]
id: DOID:0060481
name: Goldberg-Shprintzen syndrome
alt_id: MIM:609460
def: "A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. (DO)" [https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15883926 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23427148 "DO"]
synonym: "Goldberg-Shprintzen megacolon syndrome" EXACT []
synonym: "GOSHS" EXACT []
xref: GARD:9849
xref: MESH:C537279
xref: ORDO:66629
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060482
name: oculoauricular syndrome
alt_id: MIM:612109
def: "A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18423520 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25574057 "DO"]
synonym: "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear" EXACT []
synonym: "OCACS" EXACT []
synonym: "SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME" EXACT []
xref: MESH:C567416
xref: ORDO:157962
is_a: DOID:225 ! syndrome
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:0060483
name: MEDNIK syndrome
alt_id: MIM:609313
def: "A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23423674 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24754424 "DO"]
synonym: "EKV3" EXACT []
synonym: "erythrokeratodermia variabilis 3" EXACT []
synonym: "erythrokeratodermia variabilis, Kamouraska type" EXACT []
synonym: "impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" EXACT []
synonym: "MEDNIK" EXACT []
synonym: "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT []
synonym: "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" EXACT []
xref: MESH:C563739
xref: ORDO:171851
is_a: DOID:0050467 ! erythrokeratodermia variabilis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0060484
name: EAST syndrome
alt_id: MIM:612780
alt_id: OMIA:002089
def: "A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19289823 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19420365 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23471908 "DO"]
synonym: "cerebellar ataxia, KCNJ10-related" NARROW []
synonym: "epilepsy, ataxia, sensorineural deafness and tubulopathy" EXACT []
synonym: "KCNJ10-related disorder" BROAD []
synonym: "KCNJ10-related disorders" BROAD []
synonym: "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance syndrome" EXACT []
synonym: "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance" EXACT []
synonym: "SESAME-LIKE SYNDROME" RELATED []
synonym: "SESAMES" EXACT []
synonym: "SeSAME syndrome" EXACT []
xref: MESH:C557674
xref: ORDO:199343
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0060485
name: Mowat-Wilson syndrome
alt_id: MIM:235730
def: "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. (DO)" [https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/17958891 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23466526 "DO"]
synonym: "Hirschsprung disease mental retardation syndrome" EXACT []
synonym: "Hirschsprung disease-mental retardation syndrome, late infantile" NARROW []
synonym: "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease" EXACT []
synonym: "microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease" EXACT []
synonym: "MOWS" EXACT []
synonym: "ZEB2-RELATED CONDITION" EXACT []
xref: GARD:9673
xref: MESH:C536990
xref: NCI:C74999
xref: ORDO:2152
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:0060486
name: Perry syndrome
alt_id: MIM:168605
def: "A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK47027/ "DO", https://ghr.nlm.nih.gov/condition/perry-syndrome "DO"]
synonym: "parkinsonism with alveolar hypoventilation and mental depression" EXACT []
xref: GARD:10453
xref: MESH:C566822
xref: ORDO:178509
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080855 ! Parkinsonism
is_a: DOID:225 ! syndrome
is_a: DOID:9003671 ! Hypoventilation

[Term]
id: DOID:0060488
name: Pitt-Hopkins syndrome
def: "A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. (DO)" [http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome "DO", https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/17436255 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26621827 "DO", https://www.ncbi.nlm.nih.gov/pubmed/728011 "DO"]
synonym: "Pitt-Hopkins-like syndrome" RELATED []
synonym: "PTHS" EXACT []
synonym: "severe epileptic encephalopathy, with autonomic dysfunction" EXACT []
synonym: "syndromal mental retardation, with intermittent hyperventilation" EXACT []
xref: GARD:4372
xref: MESH:C537403
xref: MIM:610954
xref: MONDO:0012589
xref: NCI:C129872
xref: ORDO:2896
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9006680 ! Hyperventilation

[Term]
id: DOID:0060490
name: Schimke immuno-osseous dysplasia
alt_id: MIM:242900
def: "A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. (DO)" [http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia "DO", http://www.ncbi.nlm.nih.gov/books/NBK1376/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10653321 "DO"]
synonym: "immunoosseous dysplasia Schimke type" EXACT []
synonym: "Schimke immunoosseous dysplasia" EXACT []
synonym: "Schimke syndrome" EXACT []
synonym: "SIOD" EXACT []
synonym: "spondyloepiphyseal dysplasia - nephrotic syndrome" EXACT []
xref: GARD:4984
xref: MESH:C536629
xref: NCI:C135087
xref: ORDO:1830
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
is_a: DOID:1184 ! nephrotic syndrome
is_a: DOID:2349 ! arteriosclerosis
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9477 ! pulmonary embolism

[Term]
id: DOID:0060491
name: SPOAN syndrome
alt_id: MIM:609541
alt_id: RDO:0012893
def: "A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15852396 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26385635 "DO"]
synonym: "spastic paraplegia, optic atrophy, and neuropathy" EXACT []
synonym: "spastic paraplegia, optic atrophy, and neuropathy syndrome" EXACT []
synonym: "spastic paraplegia, optic atropy, and neuropathy" EXACT []
synonym: "spastic paraplegia, optic atropy, and neuropathy syndrome" EXACT []
xref: MESH:C563702
xref: ORDO:320406
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:2477 ! motor peripheral neuropathy
is_a: DOID:5723 ! optic atrophy
is_a: DOID:607 ! paraplegia

[Term]
id: DOID:0060492
name: chicken egg allergy
def: "An egg allergy triggered by Gallus gallus eggs. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5001 "DO", https://en.wikipedia.org/wiki/Egg_allergy "DO"]
synonym: "Gallus gallus egg allergy" EXACT []
xref: RDO:9003473
is_a: DOID:4377 ! egg allergy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0060495
name: shellfish allergy
def: "A food allergy triggered by Crustacea or Mollusca. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30893087 "DO"]
synonym: "shellfish allergies" EXACT []
synonym: "shellfish hypersensitivities" EXACT []
synonym: "shellfish hypersensitivity" EXACT []
xref: MESH:D000067208
is_a: DOID:3044 ! food allergy

[Term]
id: DOID:0060496
name: respiratory allergy
def: "An allergic disease that is located_in the respiratory tract. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25006500 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28187789 "DO"]
synonym: "airway allergy" EXACT []
synonym: "airway hyper responsiveness" EXACT []
synonym: "allergic lung disease" RELATED []
synonym: "respiratory hypersensitivities" EXACT []
synonym: "respiratory hypersensitivity" EXACT []
xref: MESH:D012130
is_a: DOID:1205 ! allergic disease
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:9002850 ! Immediate Hypersensitivity

[Term]
id: DOID:0060497
name: pollen allergy
def: "A respiratory allergy triggered by pollen. (DO)" [https://acaai.org/allergies/types-allergies/pollen-allergy "DO", https://www.aafa.org/pollen-allergy/ "DO"]
synonym: "pollen allergies" EXACT []
is_a: DOID:9008103 ! Seasonal Allergic Rhinitis
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0060498
name: Timothy grass allergy
def: "A pollen allergy triggered by Phleum pratense pollen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25685162 "DO"]
is_a: DOID:0060497 ! pollen allergy
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060499
name: autoimmune neuropathy
def: "An autoimmune disease of central nervous system caused by an autoimmune response. (DO)" [https://www.dukehealth.org/pediatric-treatments/autoimmune-brain-disorders "DO", https://www.ncbi.nlm.nih.gov/pubmed/28601415 "DO"]
xref: RDO:9002713
is_a: DOID:0060004 ! autoimmune disease of central nervous system
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0060500
name: drug allergy
def: "An allergic disease that is triggered by a drug. (DO)" [https://www.mayoclinic.org/diseases-conditions/drug-allergy/symptoms-causes/syc-20371835 "DO"]
synonym: "Drug Allergies" EXACT []
synonym: "Drug Hypersensitivities" EXACT []
synonym: "Drug Hypersensitivity" EXACT []
xref: EFO:0009482
xref: MESH:D004342
is_a: DOID:1205 ! allergic disease
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions

[Term]
id: DOID:0060501
name: metal allergy
def: "An allergic disease that is triggered by a metal. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27228132 "DO"]
is_a: DOID:1205 ! allergic disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060502
name: gastrointestinal allergy
def: "An allergic disease that is located_in the gastrointestinal tract. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18721321 "DO"]
is_a: DOID:1205 ! allergic disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060503
name: fruit allergy
def: "A food allergy triggered by a plant fruit product. (DO)" [https://en.wikipedia.org/wiki/Fruit_allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/26022876 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO"]
is_a: DOID:3044 ! food allergy

[Term]
id: DOID:0060504
name: apple allergy
def: "A fruit allergy triggered by Malus domestica plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=2 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29130794 "DO"]
synonym: "Malus domestica fruit allergy" EXACT []
is_a: DOID:0060503 ! fruit allergy

[Term]
id: DOID:0060505
name: apricot allergy
def: "A fruit allergy triggered by Prunus armeniaca plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=410 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30611476 "DO"]
synonym: "Prunus armeniaca fruit allergy" EXACT []
is_a: DOID:0060503 ! fruit allergy

[Term]
id: DOID:0060506
name: cherry allergy
def: "A fruit allergy triggered by Prunus avium plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=19 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30093847 "DO"]
synonym: "Prunus avium fruit allergy" EXACT []
is_a: DOID:0060503 ! fruit allergy

[Term]
id: DOID:0060507
name: Indian plum allergy
def: "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. (DO)" [https://en.wikipedia.org/wiki/Fruit_allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/14976388 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24696647 "DO"]
synonym: "Ziziphus mauritiana fruit allergy" EXACT []
is_a: DOID:0060503 ! fruit allergy

[Term]
id: DOID:0060508
name: orange allergy
def: "A fruit allergy triggered by Citrus sinensis plant fruit food product. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30099793 "DO"]
synonym: "Citrus sinensis fruit allergy" EXACT []
is_a: DOID:0060503 ! fruit allergy

[Term]
id: DOID:0060509
name: melon allergy
def: "A fruit allergy triggered by Cucumis melo plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=67 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO"]
synonym: "Cucumis melo fruit allergy" EXACT []
is_a: DOID:0060503 ! fruit allergy

[Term]
id: DOID:0060510
name: peach allergy
def: "A fruit allergy triggered by Prunus persica plant fruit food product. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30672059 "DO"]
synonym: "Prunus persica fruit allergy" EXACT []
is_a: DOID:0060503 ! fruit allergy

[Term]
id: DOID:0060511
name: plum allergy
def: "A fruit allergy triggered by Prunus domestica plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=27 "DO"]
synonym: "Prunus domestica fruit allergy" EXACT []
is_a: DOID:0060503 ! fruit allergy

[Term]
id: DOID:0060512
name: tomato allergy
def: "A fruit allergy triggered by Solanum lycopersicum plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=52 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12001794 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23653972 "DO"]
synonym: "Solanum lycopersicum fruit allergy" EXACT []
is_a: DOID:0060503 ! fruit allergy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0060513
name: fish allergy
def: "A food allergy triggered by fish. (DO)" [https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"]
is_a: DOID:3044 ! food allergy

[Term]
id: DOID:0060514
name: Atlantic cod allergy
def: "A fish allergy triggered by Gadus morhua. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5005 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"]
synonym: "Gadus morhua fish allergy" EXACT []
is_a: DOID:0060513 ! fish allergy

[Term]
id: DOID:0060515
name: Atlantic salmon allergy
def: "A fish allergy triggered by Salmo salar. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5022 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"]
synonym: "Salmo salar fish allergy" EXACT []
is_a: DOID:0060513 ! fish allergy

[Term]
id: DOID:0060516
name: carp allergy
def: "A fish allergy triggered by Cyprinus carpio. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5018 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"]
synonym: "Cyprinus carpio fish allergy" EXACT []
is_a: DOID:0060513 ! fish allergy

[Term]
id: DOID:0060517
name: zebrafish allergy
def: "A fish allergy triggered by Danio rerio. (DO)" [https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy "DO"]
synonym: "Danio rerio allergy" EXACT []
is_a: DOID:0060513 ! fish allergy

[Term]
id: DOID:0060518
name: rainbow trout allergy
def: "A fish allergy triggered by Oncorhynchus mykiss. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26111497 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"]
synonym: "Oncorhynchus mykiss allergy" EXACT []
is_a: DOID:0060513 ! fish allergy
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060519
name: beta-lactam allergy
def: "A drug allergy triggered by a beta-lactam. (DO)" [https://en.wikipedia.org/wiki/%CE%92-lactam_antibiotic#Allergy/hypersensitivity "DO", https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_ABX_Guide/540622/all/Beta_lactam_allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/31009700 "DO"]
xref: RDO:9003962
is_a: DOID:0060500 ! drug allergy
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0060520
name: penicillin allergy
def: "A beta-lactam allergy triggered by penicillin. (DO)" [https://en.wikipedia.org/wiki/Side_effects_of_penicillin#Allergies_and_cross_sensitivities "DO", https://www.mayoclinic.org/diseases-conditions/penicillin-allergy/symptoms-causes/syc-20376222 "DO"]
is_a: DOID:0060519 ! beta-lactam allergy
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0060521
name: cow milk allergy
def: "A milk allergy triggered by Bos taurus milk. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31083388 "DO"]
synonym: "Bos taurus milk allergy" EXACT []
is_a: DOID:4376 ! milk allergy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0060522
name: goat milk allergy
def: "A milk allergy triggered by Capra hircus milk. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17002714 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24372684 "DO"]
synonym: "Capra hircus milk allergy" EXACT []
is_a: DOID:4376 ! milk allergy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0060523
name: mollusc allergy
def: "A shellfish allergy triggered by Mollusca. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30893087 "DO"]
is_a: DOID:0060495 ! shellfish allergy

[Term]
id: DOID:0060524
name: crustacean allergy
def: "A shellfish allergy triggered by Crustacea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30893087 "DO"]
is_a: DOID:0060495 ! shellfish allergy

[Term]
id: DOID:0060525
name: brown shrimp allergy
def: "A crustacean allergy triggered by Farfantepenaeus aztecus. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5027 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO"]
synonym: "Farfantepenaeus aztecus allergy" EXACT []
is_a: DOID:0040001 ! shrimp allergy

[Term]
id: DOID:0060526
name: crab allergy
def: "A crustacean allergy triggered by Scylla paramamosain. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25728640 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO"]
synonym: "green mud crab allergy" EXACT []
synonym: "Scylla paramamosain allergy" EXACT []
is_a: DOID:0060524 ! crustacean allergy

[Term]
id: DOID:0060527
name: Indian prawn allergy
def: "A crustacean allergy triggered by Fenneropenaeus indicus. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5029 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO"]
synonym: "Fenneropenaeus indicus allergy" EXACT []
is_a: DOID:0040001 ! shrimp allergy

[Term]
id: DOID:0060528
name: tiger prawn allergy
def: "A crustacean allergy triggered by Penaeus monodon. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5028 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22135598 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29178679 "DO"]
synonym: "Penaeus monodon allergy" EXACT []
is_a: DOID:0040001 ! shrimp allergy

[Term]
id: DOID:0060529
name: white shrimp allergy
def: "A crustacean allergy triggered by Litopenaeus vannamei. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20471069 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO"]
synonym: "Litopenaeus vannamei allergy" EXACT []
is_a: DOID:0040001 ! shrimp allergy

[Term]
id: DOID:0060530
name: snail allergy
def: "A mollusc allergy triggered by snails. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5010 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15591808 "DO"]
is_a: DOID:0060523 ! mollusc allergy

[Term]
id: DOID:0060531
name: horned turban snail allergy
def: "A snail allergy triggered by the horned turban snail. (DO)" [https://farrp.unl.edu/informallmollshellfish "DO"]
synonym: "Turbo cornutus allergy" EXACT []
is_a: DOID:0060530 ! snail allergy

[Term]
id: DOID:0060532
name: latex allergy
def: "An allergic disease that is triggered by latex. (DO)" [https://en.wikipedia.org/wiki/Latex_allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/27010091 "DO"]
synonym: "latex allergies" EXACT []
synonym: "Latex Hypersensitivities" EXACT []
synonym: "Latex Hypersensitivity" EXACT []
synonym: "Natural Rubber Latex Allergy" EXACT []
synonym: "Rubber Allergies" EXACT []
synonym: "Rubber Allergy" EXACT []
synonym: "Rubber Latex Allergies" EXACT []
synonym: "rubber latex allergy" EXACT []
xref: MESH:D020315
is_a: DOID:1205 ! allergic disease

[Term]
id: DOID:0060534
name: hepatoid adenocarcinoma
def: "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. (DO)" [https://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
xref: EFO:1000293
xref: ICDO:8576/3
xref: NCI:C66950
xref: RDO:9001983
is_a: DOID:299 ! adenocarcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:0060535
name: Warsaw breakage syndrome
def: "A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. (DO)" [https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/20137776 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21490908 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23033317 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26089203 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31169992 "DO"]
synonym: "WABS" EXACT []
xref: GARD:13708
xref: MIM:613398
xref: NCI:C164675
xref: ORDO:280558
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004203 ! Chromosome Breakage

[Term]
id: DOID:0060536
name: mitochondrial complex I deficiency
def: "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. (DO)" [http://www.omim.org/entry/252010 "DO"]
synonym: "deficiency of mitochondrial NADH dehydrogenase component of complex I" EXACT []
synonym: "isolated mitochondrial respiratory chain complex I deficiency" EXACT []
synonym: "isolated NADH-coenzyme Q reductase deficiency" EXACT []
synonym: "isolated NADH-CoQ reductase deficiency" EXACT []
synonym: "isolated NADH-ubiquinone reductase deficiency" EXACT []
synonym: "mitochondrial oxidative phosphorylation disorder" EXACT []
synonym: "NADH:Q(1) oxidoreductase deficiency" EXACT []
synonym: "NADH-coenzyme Q reductase deficiency" EXACT []
synonym: "NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT" NARROW []
synonym: "NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT with severe deficiency of respiratory complex I" NARROW []
xref: GARD:3908
xref: MESH:C537475
xref: ORDO:2609
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:0060537
name: mitochondrial complex II deficiency
def: "A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23322652 "DO"]
synonym: "isolated mitochondrial respiratory chain complex II deficiency" EXACT []
synonym: "isolated succinate-coenzyme Q reductase deficiency" EXACT []
synonym: "isolated succinate-CoQ reductase deficiency" EXACT []
synonym: "isolated succinate-ubiquinone reductase deficiency" EXACT []
synonym: "succinate CoQ reductase deficiency" EXACT []
xref: GARD:5053
xref: ICD10CM:G71.3
xref: MESH:C565375
xref: MIM:PS252011
xref: ORDO:3208
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:0060538
name: purpura fulminans
def: "A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal. (DO)" [https://en.wikipedia.org/wiki/Purpura_fulminans "DO", https://www.ncbi.nlm.nih.gov/pubmed/26955583 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566 "DO"]
synonym: "purpura gangrenosa" EXACT []
xref: EFO:1001913
xref: ICD10CM:D65
xref: MESH:D055665
xref: ORDO:49566
is_a: DOID:3326 ! purpura

[Term]
id: DOID:0060539
name: Hermansky-Pudlak syndrome 1
alt_id: MIM:203300
def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. (DO)" [http://omim.org/entry/203300 "DO"]
synonym: "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells" EXACT []
synonym: "delta storage pool disease" EXACT []
synonym: "HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS" BROAD []
synonym: "HPS1" EXACT []
synonym: "HPS1-RELATED CONDITION" EXACT []
xref: MESH:C538539
xref: NCI:C150367
is_a: DOID:3753 ! Hermansky-Pudlak syndrome
is_a: DOID:9001386 ! Albinism

[Term]
id: DOID:0060540
name: Hermansky-Pudlak syndrome 2
alt_id: MIM:608233
def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. (DO)" [http://omim.org/entry/608233 "DO"]
synonym: "Hermansky-Pudlak syndrome with neutropenia" EXACT []
synonym: "HPS2" EXACT []
synonym: "Platelet defects and oculocutaneous albinism" EXACT []
xref: MESH:C537709
xref: NCI:C150368
xref: ORDO:183678
is_a: DOID:3753 ! Hermansky-Pudlak syndrome

[Term]
id: DOID:0060541
name: Hermansky-Pudlak syndrome 3
def: "A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. (DO)" [http://omim.org/entry/614072 "DO"]
synonym: "HPS3" EXACT []
xref: MIM:614072
is_a: DOID:3753 ! Hermansky-Pudlak syndrome

[Term]
id: DOID:0060542
name: Hermansky-Pudlak syndrome 4
def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. (DO)" [http://omim.org/entry/614073 "DO"]
synonym: "HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS" BROAD []
synonym: "HPS4" EXACT []
synonym: "HPS4-RELATED CONDITION" EXACT []
xref: MIM:614073
is_a: DOID:3753 ! Hermansky-Pudlak syndrome

[Term]
id: DOID:0060543
name: Hermansky-Pudlak syndrome 5
def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14. (DO)" [http://omim.org/entry/614074 "DO"]
synonym: "HPS5" EXACT []
synonym: "HPS5-RELATED CONDITION" EXACT []
xref: MIM:614074
is_a: DOID:3753 ! Hermansky-Pudlak syndrome

[Term]
id: DOID:0060544
name: Hermansky-Pudlak syndrome 6
def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. (DO)" [http://omim.org/entry/614075 "DO"]
synonym: "HPS6" EXACT []
synonym: "HPS6-RELATED CONDITION" EXACT []
xref: MIM:614075
xref: NCI:C150369
is_a: DOID:3753 ! Hermansky-Pudlak syndrome

[Term]
id: DOID:0060545
name: Hermansky-Pudlak syndrome 7
def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. (DO)" [http://omim.org/entry/614076 "DO"]
synonym: "DTNBP1-RELATED CONDITION" EXACT []
synonym: "HPS7" EXACT []
xref: MIM:614076
is_a: DOID:3753 ! Hermansky-Pudlak syndrome

[Term]
id: DOID:0060546
name: Hermansky-Pudlak syndrome 8
def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. (DO)" [http://omim.org/entry/614077 "DO"]
synonym: "BLOC1S3-RELATED CONDITION" EXACT []
synonym: "HPS8" EXACT []
xref: MIM:614077
is_a: DOID:3753 ! Hermansky-Pudlak syndrome

[Term]
id: DOID:0060547
name: Hermansky-Pudlak syndrome 9
def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. (DO)" [http://omim.org/entry/614171 "DO"]
synonym: "HPS9" EXACT []
xref: MIM:614171
xref: MONDO:0013606
is_a: DOID:3753 ! Hermansky-Pudlak syndrome

[Term]
id: DOID:0060548
name: luminal breast carcinoma A
def: "A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/ "DO"]
synonym: "breast tumor luminal" BROAD []
synonym: "luminal breast cancer" BROAD []
xref: EFO:0000306
xref: NCI:C53554
is_a: DOID:3459 ! breast carcinoma
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:0060549
name: Barber-Say syndrome
alt_id: MIM:209885
def: "A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO)" [https://rarediseases.info.nih.gov/gard/819/barber-say-syndrome/resources/1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27196381 "DO"]
synonym: "BBRSAY" EXACT []
synonym: "BSS" EXACT []
synonym: "hypertrichosis, atrophic skin, ectropion, and macrostomia" EXACT []
xref: GARD:819
xref: MESH:C537908
xref: ORDO:1231
is_a: DOID:225 ! syndrome
is_a: DOID:420 ! hypertrichosis
is_a: DOID:530 ! eyelid disease
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9004507 ! Hirsutism
is_a: DOID:9008205 ! Macrostomia

[Term]
id: DOID:0060550
name: ablepharon macrostomia syndrome
alt_id: MIM:200110
def: "A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO)" [http://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/ "DO", https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/27196381 "DO"]
synonym: "AMS" EXACT []
xref: GARD:3
xref: MESH:C535557
xref: ORDO:920
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008205 ! Macrostomia
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:0060551
name: poikiloderma with neutropenia
alt_id: MESH:C538345
alt_id: MIM:604173
def: "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20734427 "DO"]
synonym: "Navajo immune deficient poikiloderma" EXACT []
synonym: "Navajo Poikiloderma" EXACT []
synonym: "PN" EXACT []
synonym: "poikiloderma with neutropenia, Clericuzio-type" EXACT []
xref: GARD:4085
xref: MESH:C565820
xref: NCI:C177535
xref: ORDO:221046
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1227 ! neutropenia
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0060556
name: Kufor-Rakeb syndrome
alt_id: MIM:606693
def: "An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15986421 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23791710 "DO"]
synonym: "ATP13A2-RELATED CONDITION" BROAD []
synonym: "autosomal recessive Parkinson's disease 9, juvenile-onset" EXACT []
synonym: "autosomal recessive Parkinson disease 9" EXACT []
synonym: "autosomal recessive Parkinson disease 9, juvenile onset" EXACT []
synonym: "KRPPD" EXACT []
synonym: "KRS" EXACT []
synonym: "pallidopyramidal degeneration with supranuclear upgaze paresis and dementia" EXACT []
synonym: "PARK9" EXACT []
synonym: "Parkinson's disease 9" EXACT []
synonym: "Parkinson disease 9" EXACT []
xref: MESH:C537177
xref: NCI:C203534
xref: ORDO:306674
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060894 ! early-onset Parkinson's disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0060557
name: ataxia with oculomotor apraxia type 3
def: "An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13. (DO)" [https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia "DO"]
synonym: "AOA3" EXACT []
synonym: "ataxia-oculomotor apraxia 3" EXACT []
xref: MIM:615217
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
is_a: DOID:0060135 ! apraxia
is_a: DOID:12704 ! ataxia telangiectasia
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0060558
name: lethal congenital contracture syndrome
def: "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22610851 "DO"]
xref: GARD:12643
xref: ICD10CM:Q68.8
xref: MIM:PS253310
xref: ORDO:294965
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060564 ! spinal disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:0060559
name: lethal congenital contracture syndrome 1
def: "A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9683599 "DO"]
synonym: "GLE1-RELATED CONDITION" BROAD []
synonym: "GLE1-RELATED DISORDER" BROAD []
synonym: "LCCS" EXACT []
synonym: "LCCS1" EXACT []
synonym: "lethal autosomal recessive syndrome of multiple congenital contractures" EXACT []
synonym: "LETHAL CONGENITAL CONTRACTURAL SYNDROME FINNISH TYPE" EXACT []
synonym: "multiple contracture syndrome, Finnish type" EXACT []
xref: GARD:3227
xref: MESH:C537194
xref: MIM:253310
xref: MONDO:0009670
xref: ORDO:1486
is_a: DOID:0060558 ! lethal congenital contracture syndrome

[Term]
id: DOID:0060560
name: lethal congenital contracture syndrome 2
alt_id: MIM:607598
def: "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15378541 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17701904 "DO"]
synonym: "LCCS2" EXACT []
synonym: "multiple contracture syndrome, Israeli-Bedouin type" EXACT []
synonym: "multiple contracture syndrome, Israeli Bedouin type A" EXACT []
xref: GARD:9177
xref: MESH:C564369
xref: ORDO:137776
is_a: DOID:0060558 ! lethal congenital contracture syndrome

[Term]
id: DOID:0060562
name: anomalous left coronary artery from the pulmonary artery
alt_id: MESH:D000080038
def: "A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. (DO)" [https://en.wikipedia.org/wiki/Anomalous_left_coronary_artery_from_the_pulmonary_artery "DO"]
synonym: "ALCAPA" EXACT []
synonym: "ALCAPA syndrome" EXACT []
synonym: "ALCAPA syndromes" EXACT []
synonym: "Bland White Garland syndrome" EXACT []
synonym: "White-Garland syndrome" EXACT []
xref: MESH:D063748
is_a: DOID:11843 ! coronary artery anomaly
is_a: DOID:9000018 ! Coronary Vessel Anomalies
is_a: DOID:9003403 ! Arterio-Arterial Fistula

[Term]
id: DOID:0060563
name: Char syndrome
alt_id: MIM:169100
def: "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. (DO)" [https://omim.org/entry/169100 "DO"]
synonym: "CHAR" EXACT []
synonym: "Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits" EXACT []
xref: GARD:1237
xref: MESH:C566815
is_a: DOID:13832 ! patent ductus arteriosus
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060564
name: spinal disease
def: "A bone disease that is located_in the spine. (DO)" [https://en.wikipedia.org/wiki/Spinal_disease "DO"]
synonym: "spinal diseases" EXACT []
xref: MESH:D013122
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:0060565
name: Ritscher-Schinzel syndrome
def: "A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. (DO)" [https://en.wikipedia.org/wiki/3C_syndrome "DO"]
synonym: "3C syndrome" EXACT []
synonym: "CCC dysplasia" EXACT []
synonym: "Craniocerebellocardiac dysplasia" EXACT []
synonym: "Dandy-Walker-like malformation with atrioventricular septal defect" EXACT []
synonym: "RTSC" EXACT []
xref: MESH:C535313
xref: MIM:PS220210
xref: ORDO:7
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:2785 ! Dandy-Walker syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060566
name: Holzgreve-Wagner-Rehder syndrome
alt_id: MIM:236110
alt_id: RDO:0000383
def: "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3232694 "DO"]
synonym: "Complex congenital heart defect, renal agenesis, and cleft lip and palate" EXACT []
synonym: "Holzgreve syndrome" EXACT []
xref: MESH:C535327
xref: ORDO:2167
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:0060567
name: erythema elevatum diutinum
def: "A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks. (DO)" [http://www.dermnetnz.org/vascular/erythema-elevatum-diutinum.html "DO"]
synonym: "Extracellular cholesterosis" EXACT []
synonym: "Leukocytoclastic vasculitis" EXACT []
xref: GARD:8653
xref: ICD10CM:L95.1
xref: MESH:C535509
xref: ORDO:90000
xref: RDO:0000655
is_a: DOID:11450 ! allergic cutaneous vasculitis

[Term]
id: DOID:0060569
name: hypertrichotic osteochondrodysplasia Cantu type
alt_id: MIM:239850
def: "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. (DO)" [https://en.wikipedia.org/wiki/Cant%C3%BA_syndrome "DO", https://ghr.nlm.nih.gov/condition/cantu-syndrome "DO"]
synonym: "Cantu syndrome" EXACT []
synonym: "Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome" EXACT []
synonym: "Hypertrichotic osteochondrodysplasia" EXACT []
xref: GARD:8585
xref: MESH:C535572
xref: RDO:0000771
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:420 ! hypertrichosis
is_a: DOID:9003936 ! Cardiomegaly

[Term]
id: DOID:0060570
name: cardiac tuberculosis
def: "A tuberculosis located in the heart. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28814447/ "DO"]
synonym: "cardiovascular tuberculoses" EXACT []
synonym: "cardiovascular tuberculosis" EXACT []
xref: EFO:1001442
xref: MESH:D014381
is_a: DOID:114 ! heart disease
is_a: DOID:399 ! tuberculosis
is_a: DOID:9003237 ! Cardiovascular Infections

[Term]
id: DOID:0060571
name: Ritscher-Schinzel syndrome 1
def: "A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24065355 "DO"]
synonym: "RTSC1" EXACT []
synonym: "WASHC5-RELATED CONDITION" BROAD []
xref: MIM:220210
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060565 ! Ritscher-Schinzel syndrome
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0060572
name: Ritscher-Schinzel syndrome 2
def: "A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24916641 "DO"]
synonym: "CCDC22-RELATED CONDITION" EXACT []
synonym: "RTSC2" EXACT []
xref: MIM:300963
is_a: DOID:0060565 ! Ritscher-Schinzel syndrome
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1059 ! intellectual disability
created_by: rgd
creation_date: 2015-12-08T00:00:00Z

[Term]
id: DOID:0060573
name: von Willebrand's disease 1
alt_id: MIM:193400
alt_id: OMIA:001057
def: "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16889557 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8456432 "DO"]
synonym: "von Willebrand disease I" EXACT []
synonym: "von Willebrand disease type 1" EXACT []
synonym: "von Willebrand disease type 1, susceptibility to" RELATED []
synonym: "von Willebrand disease type I" EXACT []
synonym: "VWD1" EXACT []
synonym: "VWD, TYPE 1" EXACT []
xref: ICD10CM:D68.01
xref: MESH:D056725
xref: NCI:C131685
is_a: DOID:12531 ! von Willebrand's disease

[Term]
id: DOID:0060574
name: von Willebrand's disease 2
alt_id: MIM:613554
alt_id: OMIA:001339
def: "A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20409624 "DO"]
synonym: "Type IIA von Willebrand Disease" EXACT []
synonym: "Type IIB von Willebrand Disease" EXACT []
synonym: "Type IIM von Willebrand Disease" EXACT []
synonym: "Type IIN von Willebrand Disease" EXACT []
synonym: "Type II von Willebrand Disease" EXACT []
synonym: "Von Willebrand disease II" EXACT []
synonym: "von Willebrand disease, type 2" EXACT []
synonym: "von Willebrand disease, type 2A" NARROW []
synonym: "von Willebrand disease, type 2B" NARROW []
synonym: "von Willebrand disease, type 2M" NARROW []
synonym: "von Willebrand disease, type 2N" NARROW []
synonym: "VON WILLEBRAND FACTOR POLYMORPHISM" RELATED []
synonym: "VWD2" EXACT []
synonym: "VWD2A" NARROW []
synonym: "VWD2B" NARROW []
synonym: "VWD2M" NARROW []
synonym: "VWD2N" NARROW []
synonym: "VWD type 2" EXACT []
xref: ICD10CM:D68.02
xref: MESH:D056728
xref: ORDO:166081
is_a: DOID:12531 ! von Willebrand's disease

[Term]
id: DOID:0060575
name: 3MC syndrome 1
alt_id: MIM:257920
def: "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27. (DO)" [https://ghr.nlm.nih.gov/condition/3mc-syndrome "DO", https://www.omim.org/entry/257920 "DO"]
synonym: "3MC1" EXACT []
synonym: "craniosynostosis with lid anomalies" EXACT []
synonym: "Michels syndrome" EXACT []
synonym: "oculopalatoskeletal syndrome" EXACT []
xref: EFO:1001978
xref: MESH:C537738
is_a: DOID:0060225 ! 3MC syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:0060576
name: 3MC syndrome 2
alt_id: MIM:265050
def: "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25. (DO)" [https://ghr.nlm.nih.gov/condition/3mc-syndrome "DO", https://www.omim.org/entry/265050 "DO"]
synonym: "3MC2" EXACT []
synonym: "Carnevale Krajewska Fischetto syndrome" EXACT []
synonym: "Carnevale Syndrome" EXACT []
synonym: "oculo-skeletal-abdominal syndrome" EXACT []
synonym: "OSA Syndrome" EXACT []
synonym: "ptosis of eyelids with diastasis recti and hip dysplasia" EXACT []
xref: EFO:1001977
xref: MESH:C535586
is_a: DOID:0060225 ! 3MC syndrome
is_a: DOID:0060260 ! ptosis
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:540 ! strabismus
is_a: DOID:9005560 ! Congenital Hip Dislocation

[Term]
id: DOID:0060577
name: 3MC syndrome 3
def: "A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21258343 "DO"]
synonym: "3MC3" EXACT []
synonym: "facial clefting syndrome, Gypsy type" EXACT []
synonym: "Malpuech facial clefting syndrome" EXACT []
synonym: "Malpuech syndrome" EXACT []
xref: MESH:C535704
xref: MIM:248340
xref: MONDO:0009554
is_a: DOID:0060225 ! 3MC syndrome
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:0060578
name: Noonan syndrome 1
def: "A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18203203 "DO"]
synonym: "Noonan syndrome type 1" EXACT []
synonym: "NS1" EXACT []
xref: MIM:163950
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3490 ! Noonan syndrome
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:0060580
name: Noonan syndrome 2
def: "A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5782826 "DO"]
synonym: "Noonan syndrome, autosomal recessive" BROAD []
synonym: "NS2" EXACT []
xref: MESH:C548081
xref: MIM:605275
xref: MONDO:0011531
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3490 ! Noonan syndrome

[Term]
id: DOID:0060581
name: Noonan syndrome 3
alt_id: MIM:609942
def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16474405 "DO"]
synonym: "NS3" EXACT []
xref: MESH:C537847
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3490 ! Noonan syndrome

[Term]
id: DOID:0060582
name: Noonan syndrome 4
alt_id: MIM:610733
def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19438935 "DO"]
synonym: "NS4" EXACT []
synonym: "SOS1-RELATED CONDITION" BROAD []
xref: MESH:C548082
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3490 ! Noonan syndrome

[Term]
id: DOID:0060583
name: Noonan syndrome 5
alt_id: MIM:611553
def: "A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17603483 "DO"]
synonym: "NS5" EXACT []
xref: MESH:C548083
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3490 ! Noonan syndrome

[Term]
id: DOID:0060584
name: Noonan syndrome 6
alt_id: MIM:613224
def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19966803 "DO"]
synonym: "NS6" EXACT []
xref: MESH:C548084
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3490 ! Noonan syndrome

[Term]
id: DOID:0060585
name: Noonan syndrome 7
def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19206169 "DO"]
synonym: "NS7" EXACT []
xref: MIM:613706
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3490 ! Noonan syndrome

[Term]
id: DOID:0060586
name: Noonan syndrome 8
def: "A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24939608 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25124994 "DO"]
synonym: "NS8" EXACT []
synonym: "RIT1-RELATED CONDITION" EXACT []
xref: MIM:615355
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3490 ! Noonan syndrome

[Term]
id: DOID:0060587
name: Noonan syndrome 9
def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25795793 "DO"]
synonym: "NS9" EXACT []
synonym: "SOS2-RELATED CONDITION" EXACT []
xref: MIM:616559
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3490 ! Noonan syndrome

[Term]
id: DOID:0060588
name: Noonan syndrome 10
alt_id: RDO:9001517
def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25795793 "DO"]
synonym: "AUTOSOMAL RECESSIVE NOONAN-LIKE SYNDROME DUE TO COMPOUND HETEROZYGOUS VARIANTS IN LZTR1" EXACT []
synonym: "LZTR1-related disorder" RELATED []
synonym: "NS10" EXACT []
xref: MIM:616564
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3490 ! Noonan syndrome

[Term]
id: DOID:0060589
name: Yunis-Varon syndrome
alt_id: MIM:216340
alt_id: RDO:0002382
def: "A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23623387 "DO"]
synonym: "cleidocranial dysplasia-micrognathia-absent thumbs syndrome" EXACT []
synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia" EXACT []
synonym: "YVS" EXACT []
xref: GARD:331
xref: MESH:C536719
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13994 ! cleidocranial dysplasia
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9005616 ! Micrognathism
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:0060590
name: XFE progeroid syndrome
alt_id: MIM:610965
def: "A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17183314 "DO"]
synonym: "XFEPS" EXACT []
synonym: "XPF-ERCC1 Progeroid Syndrome" EXACT []
xref: GARD:10628
xref: MESH:C567043
xref: NCI:C173111
is_a: DOID:0050427 ! xeroderma pigmentosum
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081332 ! progeroid syndrome
is_a: DOID:2962 ! Cockayne syndrome

[Term]
id: DOID:0060591
name: WHIM syndrome 1
def: "An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. (DO)" [https://en.wikipedia.org/wiki/WHIM_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/10767001 "DO"]
synonym: "CXCR4-RELATED CONDITION" EXACT []
synonym: "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 1" EXACT []
synonym: "WHIMS1" EXACT []
synonym: "WHIM syndrome 1" EXACT []
xref: GARD:9297
xref: MESH:C536697
xref: MIM:193670
xref: MONDO:8000006
xref: NCI:C176819
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3178 ! skin papilloma
is_a: DOID:9004715 ! WHIM Syndrome

[Term]
id: DOID:0060592
name: B-cell adult acute lymphocytic leukemia
def: "An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143 "DO"]
synonym: "adult B acute lymphoblastic leukaemia" EXACT []
synonym: "adult B acute lymphoblastic leukemia" EXACT []
synonym: "adult b-cell acute lymphoblastic leukaemia" EXACT []
synonym: "adult b-cell acute lymphoblastic leukemia" EXACT []
synonym: "adult b-cell lymphocytic leukaemia" EXACT []
synonym: "adult b-cell lymphocytic leukemia" EXACT []
synonym: "adult B-lymphoblastic leukaemia" EXACT []
synonym: "adult B-lymphoblastic leukemia" EXACT []
synonym: "B-cell adult acute lymphocytic leukaemia" EXACT []
xref: EFO:1001935
xref: NCI:C9143
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma
is_a: DOID:5604 ! adult acute lymphocytic leukemia
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:0060597
name: atypical chronic myeloid leukemia, BCR-ABL1 negative
alt_id: DOID:8747
def: "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29226717 "DO"]
synonym: "aCML" EXACT []
synonym: "atypical chronic myeloid leukaemia" EXACT []
synonym: "atypical chronic myeloid leukaemia BCR-ABL1 negative" EXACT []
synonym: "atypical chronic myeloid leukemia" EXACT []
synonym: "atypical CML" EXACT []
synonym: "Ph1-negative myelogenous leukemia" EXACT []
synonym: "Ph1-negative myelogenous leukemias" EXACT []
synonym: "Ph1-negative myeloid leukemia" EXACT []
synonym: "Ph1-negative myeloid leukemias" EXACT []
synonym: "Philadelphia-negative myeloid leukemia" EXACT []
synonym: "Philadelphia-negative myeloid leukemias" EXACT []
synonym: "subacute myeloid leukemia" EXACT []
xref: ICD10CM:C92.2
xref: ICD9CM:205.2
xref: ICDO:9876/3
xref: MESH:D054438
xref: NCI:C3176
xref: NCI:C3519
xref: ORDO:98824
is_a: DOID:4972 ! myelodysplastic/myeloproliferative neoplasm
is_a: DOID:8692 ! myeloid leukemia

[Term]
id: DOID:0060599
name: Nance-Horan syndrome
alt_id: MIM:302350
def: "A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. (DO)" [https://en.wikipedia.org/wiki/Nance-Horan_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/2246772 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6467651 "DO"]
synonym: "cataract-dental syndrome" EXACT []
synonym: "Mesiodens-Cataract syndrome" EXACT []
synonym: "NHS" EXACT []
synonym: "NHS-RELATED CONDITION" BROAD []
synonym: "X-linked cataract, with Hutchinsonian teeth" EXACT []
xref: GARD:7161
xref: MESH:C538336
xref: ORDO:627
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:0060601
name: alpha-2-plasmin inhibitor deficiency
alt_id: MIM:262850
alt_id: RDO:0003676
def: "A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11472338 "DO", https://www.ncbi.nlm.nih.gov/pubmed/156196 "DO"]
synonym: "antiplasmin deficiency" EXACT []
synonym: "Anti-Plasmin Deficiency, Congenital" EXACT []
synonym: "Antiplasmin deficiency, congenital" EXACT []
synonym: "antiplasmin defiency" RELATED []
synonym: "plasmin inhibitor deficiency" EXACT []
xref: ICD10CM:D68.8
xref: MESH:C537777
xref: ORDO:79
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2213 ! hemorrhagic disease

[Term]
id: DOID:0060602
name: alpha-methylacyl-CoA racemase deficiency
alt_id: MIM:614307
def: "A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11861706 "DO"]
synonym: "AMACRD" EXACT []
synonym: "AMACR Deficiency" EXACT []
xref: EFO:1001980
xref: MESH:C565768
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:863 ! nervous system disease
is_a: DOID:906 ! peroxisomal disease

[Term]
id: DOID:0060603
name: isolated anhidrosis with normal sweat glands
def: "An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2401610 "DO"]
synonym: "ANHD" EXACT []
synonym: "Dann-Epstein-Sohar syndrome" EXACT []
xref: MIM:106190
is_a: DOID:11156 ! anhidrosis

[Term]
id: DOID:0060604
name: ankyloglossia
alt_id: MIM:106280
def: "A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. (DO)" [https://en.wikipedia.org/wiki/Ankyloglossia "DO", https://www.ncbi.nlm.nih.gov/pubmed/18983637 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5251442 "DO"]
synonym: "Ankyloglossias" EXACT []
synonym: "partial ankyloglossia" EXACT []
synonym: "partial ankyloglossias" EXACT []
synonym: "tongue tie" EXACT []
synonym: "tongue ties" EXACT []
xref: ICD10CM:Q38.1
xref: MESH:D000072676
is_a: DOID:10944 ! tongue disease

[Term]
id: DOID:0060606
name: fetal nicotine spectrum disorder
def: "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905398/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20363831 "DO"]
is_a: DOID:0060038 ! specific developmental disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0060608
name: microcephalic osteodysplastic primordial dwarfism type I
alt_id: MIM:210710
def: "An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. (DO)" [http://omim.org/entry/210710 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22302400 "DO"]
synonym: "brachymelic primordial dwarfism" EXACT []
synonym: "cephaloskeletal dysplasia" EXACT []
synonym: "low-birth-weight dwarfism with skeletal dysplasia" EXACT []
synonym: "microcephalic osteodysplastic primordial dwarfism type 1" EXACT []
synonym: "Mopd 1" EXACT []
synonym: "Mopd1" EXACT []
synonym: "Mopd I" EXACT []
synonym: "MopdI" EXACT []
synonym: "osteodysplastic primordial dwarfism, type 1" EXACT []
synonym: "osteodysplastic primordial dwarfism, type I" EXACT []
synonym: "TALS" EXACT []
synonym: "Taybi Linder syndrome" EXACT []
xref: GARD:5120
xref: MESH:C537577
xref: ORDO:2636
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9002954 ! Microcephalic Osteodysplastic Primordial Dwarfism

[Term]
id: DOID:0060609
name: microcephalic osteodysplastic primordial dwarfism type II
alt_id: MIM:210720
def: "An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. (DO)" [http://omim.org/entry/210720 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7551160 "DO"]
synonym: "Majewski osteodysplastic primordial dwarfism type II" EXACT []
synonym: "microcephalic osteodysplastic primordial dwarfism, type 2" EXACT []
synonym: "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities" EXACT []
synonym: "MOPD2" EXACT []
synonym: "MOPD II" EXACT []
synonym: "MOPDII" EXACT []
synonym: "osteodysplastic primordial dwarfism, type 2" EXACT []
synonym: "osteodysplastic primordial dwarfism type II" EXACT []
synonym: "PCNT-RELATED CONDITION" EXACT []
xref: MESH:C565898
xref: ORDO:2637
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9002954 ! Microcephalic Osteodysplastic Primordial Dwarfism

[Term]
id: DOID:0060610
name: megacystis-microcolon-intestinal hypoperistalsis syndrome
def: "A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. (DO)" [https://en.wikipedia.org/wiki/Berdon_syndrome "DO", https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21792650 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25407000 "DO"]
synonym: "Berdon syndrome" EXACT []
synonym: "idiopathic intestinal pseudoobstruction" EXACT []
synonym: "infantile visceral myopathy" EXACT []
synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH" EXACT []
synonym: "megaduodenum and/or megacystis" EXACT []
synonym: "MMIH" EXACT []
synonym: "visceral myopathy" EXACT []
synonym: "VSCM" EXACT []
xref: MESH:C536138
xref: MESH:C563597
xref: MIM:155310
xref: MIM:PS249210
xref: MONDO:0025986
xref: NCI:C98982
xref: ORDO:2241
is_a: DOID:0080072 ! intestinal pseudo-obstruction
is_a: DOID:225 ! syndrome
is_a: DOID:9002025 ! Familial Visceral Myopathy
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060611
name: abdominal obesity-metabolic syndrome
def: "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17167477/ "DO"]
xref: MESH:C535554
xref: MIM:PS605552
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9006646 ! Metabolic Syndrome
is_a: DOID:9007772 ! Abdominal Obesity

[Term]
id: DOID:0060612
name: abdominal obesity-metabolic syndrome 3
alt_id: RDO:9001051
def: "An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. (DO)" [http://omim.org/entry/615812 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24827035 "DO"]
synonym: "AOMS3" EXACT []
synonym: "central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease" EXACT []
synonym: "DYRK1B-RELATED CONDITION" EXACT []
xref: MIM:615812
is_a: DOID:0060611 ! abdominal obesity-metabolic syndrome

[Term]
id: DOID:0060613
name: X-linked cleft palate with or without ankyloglossia
alt_id: MIM:303400
def: "A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14729838 "DO"]
synonym: "CPX" EXACT []
synonym: "X-linked cleft palate" EXACT []
synonym: "X-linked cleft palate and ankyloglossia" EXACT []
xref: MESH:C536426
xref: ORDO:324601
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:674 ! cleft palate

[Term]
id: DOID:0060614
name: ulnar-mammary syndrome
alt_id: MIM:181450
def: "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8595424 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8923944 "DO"]
synonym: "Pallister ulnar-mammary syndrome" EXACT []
synonym: "Schinzel syndrome" EXACT []
synonym: "TBX3-RELATED CONDITION" EXACT []
synonym: "ulnar-mammary syndrome of Pallister" EXACT []
synonym: "UMS" EXACT []
xref: GARD:118
xref: MESH:C536937
xref: ORDO:3138
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:3463 ! breast disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060638
name: neonatal diabetes mellitus with congenital hypothyroidism
alt_id: MIM:610199
def: "A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16715098 "DO"]
synonym: "NDH" EXACT []
synonym: "NDH syndrome" EXACT []
xref: MESH:C565705
xref: ORDO:79118
is_a: DOID:0050328 ! congenital hypothyroidism
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11717 ! neonatal diabetes
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0060639
name: permanent neonatal diabetes mellitus
def: "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17213273 "DO"]
synonym: "DEND" NARROW []
synonym: "developmental delay, epilepsy, and neonatal diabetes" NARROW []
synonym: "PDMI" EXACT []
synonym: "permanent diabetes mellitus, of infancy" EXACT []
synonym: "permanent neonatal diabetes mellitus (PNDM)" EXACT []
synonym: "permanent neonatal diabetes mellitus, with neurologic features" NARROW []
synonym: "PNDM" EXACT []
xref: GARD:10457
xref: MESH:C563425
xref: MIM:PS606176
xref: NCI:C114902
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11717 ! neonatal diabetes
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0060640
name: ethylmalonic encephalopathy
alt_id: MIM:602473
def: "A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13. (DO)" [https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy "DO", https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/20528888 "DO"]
synonym: "EE" EXACT []
synonym: "encephalopathy, petechiae, and ethylmalonic aciduria" EXACT []
synonym: "Epema Syndrome" EXACT []
synonym: "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria" EXACT []
xref: GARD:2198
xref: MESH:C535737
xref: ORDO:51188
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:0060641
name: endocrine-cerebro-osteodysplasia syndrome
alt_id: MIM:612651
def: "A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19185282 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24853502 "DO"]
synonym: "DYSPLASTIC CORPUS CALLOSUM" NARROW []
synonym: "ECO" EXACT []
synonym: "ECO syndrome" EXACT []
synonym: "endocrine-cerebroosteodysplasia" EXACT []
xref: MESH:C567210
xref: ORDO:199332
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:28 ! endocrine system disease
is_a: DOID:331 ! central nervous system disease

[Term]
id: DOID:0060642
name: recessive dystrophic epidermolysis bullosa
def: "An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. (DO)" [https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa "DO", https://www.ncbi.nlm.nih.gov/pubmed/3307723 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8513326 "DO"]
synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" EXACT []
synonym: "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" EXACT []
synonym: "autosomal recessive epidermolysis bullosa dystrophica inversa" EXACT []
synonym: "RDEB, Hallopeau-Siemens type" EXACT []
synonym: "severe generalized RDEB" NARROW []
synonym: "severe generalized recessive dystrophic epidermolysis bullosa" NARROW []
xref: ICD10CM:Q81.2
xref: MESH:C567122
xref: ORDO:79408
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4959 ! epidermolysis bullosa dystrophica

[Term]
id: DOID:0060643
name: primary sclerosing cholangitis
def: "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7877651 "DO"]
synonym: "primary sclerosing cholangitides" EXACT []
synonym: "PSC" EXACT []
xref: GARD:1280
xref: ICD10CM:K83.01
xref: MIM:613806
xref: MONDO:0013433
xref: NCI:C4828
xref: ORDO:171
is_a: DOID:14268 ! sclerosing cholangitis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0060644
name: chondrodysplasia-pseudohermaphroditism syndrome
def: "A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1342874 "DO"]
synonym: "chondrodysplasia-disorder of sex development syndrome" EXACT []
synonym: "chondrodysplasia pseudohermaphrodism syndrome" EXACT []
synonym: "Nivelon-Nivelon-Mabille syndrome" EXACT []
synonym: "NNMS" EXACT []
synonym: "pseudohermaphrodism and chondrodysplasia" EXACT []
xref: MESH:C536123
xref: MIM:600092
xref: MONDO:0010814
xref: ORDO:1422
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development

[Term]
id: DOID:0060645
name: chronic recurrent multifocal osteomyelitis
def: "An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. (DO)" [https://en.wikipedia.org/wiki/Chronic_recurrent_multifocal_osteomyelitis "DO", https://www.ncbi.nlm.nih.gov/pubmed/11973628 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4403064 "DO", https://www.nomidalliance.org/crmo.php "DO"]
synonym: "chronic multifocal osteomyelitis" EXACT []
synonym: "chronic osteomyelitis" EXACT []
synonym: "CMO" EXACT []
synonym: "CRMO" EXACT []
xref: GARD:6108
xref: ICD10CM:M86.3
xref: MESH:C535456
xref: MIM:PS609628
xref: MONDO:0009813
xref: ORDO:324964
is_a: DOID:0060564 ! spinal disease
is_a: DOID:1019 ! osteomyelitis

[Term]
id: DOID:0060646
name: congenital chylothorax
alt_id: MIM:603523
def: "A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. (DO)" [https://en.wikipedia.org/wiki/Chylothorax "DO", https://www.ncbi.nlm.nih.gov/pubmed/416049 "DO"]
synonym: "congenital hydrothorax" EXACT []
xref: MESH:C535461
xref: ORDO:264688
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9007840 ! Chylothorax

[Term]
id: DOID:0060647
name: fetal encasement syndrome
def: "A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20961246 "DO"]
synonym: "cocoon syndrome" EXACT []
xref: MIM:613630
xref: ORDO:465824
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9001984 ! Fetal Diseases
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060648
name: anterior segment dysgenesis
alt_id: DOID:0060605
def: "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. (DO)" [https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis "DO", https://www.ncbi.nlm.nih.gov/pubmed/17914436 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30242500 "DO"]
synonym: "anterior segment anomalies" EXACT []
synonym: "anterior segment anomalies and cataract" NARROW []
synonym: "anterior segment developmental anomaly" EXACT []
synonym: "anterior segment mesenchymal dysgenesis" EXACT []
synonym: "anterior segment ocular dysgenesis" EXACT []
synonym: "ASMD" EXACT []
synonym: "ASOD" EXACT []
synonym: "corneal opacification and other ocular anomalies" EXACT []
synonym: "corneal opacification with other ocular anomalies" EXACT []
synonym: "sclerocornea with other ocular anomalie" EXACT []
synonym: "sclerocornea with other ocular anomalies" EXACT []
xref: GARD:10025
xref: MESH:C537775
xref: MIM:PS107250
xref: ORDO:88632
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0060252 ! sclerocornea
is_a: DOID:9008296 ! Eye Abnormalities
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:0060649
name: congenital hereditary endothelial dystrophy of cornea
alt_id: MIM:217700
def: "A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16767101 "DO"]
synonym: "CHED" EXACT []
synonym: "CHED2" EXACT []
synonym: "congenital hereditary endothelial dystrophy of the cornea" EXACT []
synonym: "corneal dystrophy, congenital hereditary endothelial" EXACT []
synonym: "corneal endothelial dystrophy 2" EXACT []
synonym: "corneal endothelial dystrophy 2, autosomal recessive" EXACT []
synonym: "corneal endothelial dystrophy type 2" EXACT []
xref: MESH:C536439
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060443 ! corneal endothelial dystrophy
is_a: DOID:0080015 ! physical disorder

[Term]
id: DOID:0060650
name: dicarboxylic aminoaciduria
alt_id: MIM:222730
def: "An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18200002/ "DO"]
synonym: "DCBXA" EXACT []
synonym: "Dicarboxylic amino aciduria" EXACT []
synonym: "Dicarboxylicamino Aciduria" EXACT []
synonym: "dicarboxylicaminoaciduria" EXACT []
synonym: "Glutamate and aspartate transport defect" EXACT []
synonym: "glutamate-aspartate transport defect" EXACT []
synonym: "inborn error of glutamic and aspartate transport" EXACT []
xref: GARD:1855
xref: MESH:C536171
xref: ORDO:2195
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9002207 ! Renal Aminoacidurias
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0060651
name: MYH-9 related disease
alt_id: MIM:155100
alt_id: OMIA:001608
def: "A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. (DO)" [https://ghr.nlm.nih.gov/condition/myh9-related-disorder "DO", https://www.ncbi.nlm.nih.gov/pubmed/21567368 "DO"]
synonym: "Alport syndrome with leukocyte inclusions and macrothrombocytopenia" EXACT []
synonym: "Alport syndrome with macrothrombocytopenia" EXACT []
synonym: "APSM" EXACT []
synonym: "autosomal dominant MYH9 spectrum disorders" EXACT []
synonym: "BDPLT6" EXACT []
synonym: "bleeding disorder, platelet-type, 6" EXACT []
synonym: "Brodie Chole Griffin syndrome" EXACT []
synonym: "Dohle leukocyte inclusions with giant platelets" EXACT []
synonym: "Epstein syndrome" EXACT []
synonym: "EPSTNS" EXACT []
synonym: "Fechtner's syndrome" EXACT []
synonym: "Fechtner syndrome" EXACT []
synonym: "FTNS" EXACT []
synonym: "macrothrombocytopathy, nephritis, and deafness" EXACT []
synonym: "Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions" EXACT []
synonym: "MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS" EXACT []
synonym: "Macrothrombocytopenia and Progressive Sensorineural Deafness" EXACT []
synonym: "macrothrombocytopenia, nephritis, and deafness" EXACT []
synonym: "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions" EXACT []
synonym: "macrothrombocytopenia, progressive deafness" EXACT []
synonym: "macrothrombocytopenia with dispersed leukocytic inclusions" EXACT []
synonym: "macrothrombocytopenia with leukocyte inclusions" EXACT []
synonym: "MATINS" EXACT []
synonym: "May-Hegglin anomaly" EXACT []
synonym: "MHA" EXACT []
synonym: "MYH9 gene-related autosomal macrothrombocytopenias" EXACT []
synonym: "MYH9RD" EXACT []
synonym: "MYH9-RELATED CONDITION" BROAD []
synonym: "MYH9-related disorder" EXACT []
synonym: "MYH9-related disorders" EXACT []
synonym: "MYH9-related macrothrombocytopenias" EXACT []
synonym: "SBS" EXACT []
synonym: "Sebastian platelet syndrome" EXACT []
synonym: "Sebastian syndrome" EXACT []
xref: EFO:0009646
xref: MESH:C535507
xref: MESH:C537831
xref: NCI:C158788
xref: ORDO:182050
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:0060652
name: familial erythrocytosis 1
alt_id: MIM:133100
def: "A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9292543 "DO"]
synonym: "autosomal dominant benign erythrocytosis" EXACT []
synonym: "benign familial polycythemia" EXACT []
synonym: "congenital erythrocytosis" EXACT []
synonym: "ECYT1" EXACT []
synonym: "hereditary erythrocytosis" EXACT []
synonym: "PFCP" EXACT []
synonym: "primary familial and congenital polycythemia" EXACT []
synonym: "primary familial polycythemia" EXACT []
xref: ICD10CM:D75.0
xref: MESH:C536842
xref: ORDO:90042
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10780 ! primary polycythemia

[Term]
id: DOID:0060653
name: lethal congenital contracture syndrome 3
alt_id: MIM:611369
def: "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17701898 "DO"]
synonym: "LCCS3" EXACT []
synonym: "multiple contractural syndrome, Israeli Bedouin type B" EXACT []
synonym: "multiple contracture syndrome, Israeli Bedouin type B" EXACT []
xref: MESH:C566961
xref: ORDO:137783
is_a: DOID:0060558 ! lethal congenital contracture syndrome
is_a: DOID:767 ! muscular atrophy
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:0060654
name: lethal congenital contracture syndrome 4
def: "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22610851 "DO"]
synonym: "LCCS4" EXACT []
xref: GARD:12645
xref: MIM:614915
is_a: DOID:0060558 ! lethal congenital contracture syndrome

[Term]
id: DOID:0060655
name: autosomal recessive congenital ichthyosis
alt_id: DOID:1699
def: "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO)" [https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance "DO", https://www.ncbi.nlm.nih.gov/books/NBK1420/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20643494 "DO"]
synonym: "alligator skin" EXACT []
synonym: "ARCI" EXACT []
synonym: "congenital ichthyosiform erythroderma" EXACT []
synonym: "congenital ichthyosiform erythroderma, dry type" EXACT []
synonym: "congenital ichthyosiform erythrodermas" EXACT []
synonym: "congenital ichthyosiform erythroderma, wet type" EXACT []
synonym: "CONGENITAL ICHTHYOSIS OF SKIN" BROAD []
synonym: "congenital non bullous ichthyosiform erythroderma" EXACT []
synonym: "congenital nonbullous ichthyosiform erythroderma" EXACT []
synonym: "ichthyosiform erythroderma" EXACT []
synonym: "lamellar desquamation of the newborn" RELATED []
synonym: "lamellar ichthyose" EXACT []
synonym: "lamellar ichthyoses" EXACT []
synonym: "lamellar ichthyosis" EXACT []
synonym: "nonbullous congenital lamellar ichthyosis" EXACT []
synonym: "nonbullous erythroderma ichthyosiforme" EXACT []
xref: MESH:D016113
xref: MIM:PS242300
xref: NCI:C84805
xref: ORDO:281097
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:1697 ! ichthyosis
is_a: DOID:9007168 ! Genetic Skin Diseases
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:0060656
name: autosomal recessive congenital ichthyosis 1
alt_id: MIM:242300
alt_id: OMIA:000546
def: "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7824952 "DO"]
synonym: "ARCI1" EXACT []
synonym: "AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS TYPE 1" EXACT []
synonym: "bathing suit ichthyosis" EXACT []
synonym: "collodion baby syndrome" EXACT []
synonym: "collodion baby syndromes" EXACT []
synonym: "collodion fetus" EXACT []
synonym: "desquamation of newborn" EXACT []
synonym: "ichthyosis congenita" EXACT []
synonym: "ichthyosis congenita I" EXACT []
synonym: "Ichthyosis Congenita II" EXACT []
synonym: "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION" EXACT []
synonym: "Ichthyosis, Lamellar, 1" EXACT []
synonym: "Ichthyosis, TGM1-related" EXACT []
synonym: "ICR2" EXACT []
synonym: "Lamellar Exfoliation of Newborn" EXACT []
synonym: "lamellar ichthyosis type 1" EXACT []
synonym: "LI1" EXACT []
synonym: "newborn desquamation" EXACT []
synonym: "newborn desquamations" EXACT []
synonym: "newborn lamellar exfoliation" EXACT []
synonym: "newborn lamellar exfoliations" EXACT []
synonym: "self-healing collodion baby" EXACT []
synonym: "SHCB" EXACT []
xref: GARD:3170
xref: MESH:D017490
xref: ORDO:100976
xref: ORDO:281122
xref: ORDO:313
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:0060668
name: anencephaly
def: "A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. (DO)" [https://en.wikipedia.org/wiki/Anencephaly "DO", https://ghr.nlm.nih.gov/condition/anencephaly "DO"]
synonym: "anencephalia" EXACT []
synonym: "anencephalias" EXACT []
synonym: "anencephalus" EXACT []
synonym: "ANPH" EXACT []
synonym: "aprosencephalies" EXACT []
synonym: "Aprosencephaly" EXACT []
synonym: "brain congenital absence" EXACT []
synonym: "congenital absence of brain" EXACT []
synonym: "hemicranial anencephaly" EXACT []
synonym: "incomplete anencephaly" EXACT []
synonym: "partial anencephalies" EXACT []
synonym: "partial anencephaly" EXACT []
xref: GARD:5808
xref: ICD10CM:Q00.0
xref: MESH:D000757
xref: MIM:PS206500
xref: NCI:C84560
xref: ORDO:1048
is_a: DOID:0080074 ! neural tube defect
is_a: DOID:2490 ! congenital nervous system abnormality
is_a: DOID:9004061 ! Abnormalities, Severe Teratoid

[Term]
id: DOID:0060669
name: cerebral cavernous malformation
def: "A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. (DO)" [http://hmg.oxfordjournals.org/content/18/5/919.long "DO", https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation "DO"]
synonym: "brain cavernous hemangioma" EXACT []
synonym: "brain cavernous hemangiomas" EXACT []
synonym: "CAM" EXACT []
synonym: "Cavernous Angioma, Central Nervous System" EXACT []
synonym: "Cavernous Angiomatous Malformation" EXACT []
synonym: "cavernous angiomatous malformations" EXACT []
synonym: "cavernous hemangioma, central nervous system" EXACT []
synonym: "Cavernous Hemangioma of Brain" EXACT []
synonym: "CAVERNOUS MALFORMATIONS OF CNS AND RETINA" NARROW []
synonym: "CCM" EXACT []
synonym: "Cerebral Capillary Malformation" EXACT []
synonym: "cerebral capillary malformations" EXACT []
synonym: "Cerebral Cavernous Hemangioma" EXACT []
synonym: "cerebral cavernous hemangiomas" EXACT []
synonym: "cerebral cavernous malformations" EXACT []
synonym: "extracerebral cavernous hemangioma" EXACT []
synonym: "extracerebral cavernous hemangiomas" EXACT []
synonym: "familial cavernous angioma" EXACT []
synonym: "familial cavernous angiomas" EXACT []
synonym: "familial cavernous malformation" EXACT []
synonym: "familial cavernous malformations" EXACT []
synonym: "HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS" NARROW []
synonym: "intracerebral cavernous hemangioma" EXACT []
synonym: "intracerebral cavernous hemangiomas" EXACT []
xref: EFO:1001343
xref: MESH:D020786
xref: MIM:PS116860
xref: NCI:C84626
is_a: DOID:483 ! cavernous hemangioma
is_a: DOID:501 ! central nervous system hemangioma
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9003443 ! Central Nervous System Vascular Malformations

[Term]
id: DOID:0060670
name: cerebral cavernous malformation 2
alt_id: MIM:603284
def: "A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14624391 "DO"]
synonym: "CCM2" EXACT []
synonym: "cerebral cavernous malformations 2" EXACT []
xref: MESH:C566394
xref: ORDO:221061
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001136 ! Familial Cerebral Cavernous Malformation
is_a: DOID:9005616 ! Micrognathism

[Term]
id: DOID:0060671
name: cerebral cavernous malformation 3
alt_id: MIM:603285
def: "A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15543491 "DO"]
synonym: "CCM3" EXACT []
synonym: "cerebral cavernous malformations 3" EXACT []
xref: ICD10CM:Q28.3
xref: MESH:C566393
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001136 ! Familial Cerebral Cavernous Malformation
is_a: DOID:9005616 ! Micrognathism

[Term]
id: DOID:0060672
name: GRN-related frontotemporal lobar degeneration with TDP43 inclusions
def: "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16862116 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16983677 "DO"]
synonym: "frontotemporal dementia 2" EXACT []
synonym: "FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED" EXACT []
synonym: "frontotemporal lobar degeneration with ubiquitin positive inclusions" EXACT []
synonym: "FTD2" EXACT []
synonym: "FTDU" EXACT []
synonym: "FTLD-TDP, GRN-related" EXACT []
synonym: "FTLDU" EXACT []
synonym: "HDDD aphasia, primary progressive" NARROW []
synonym: "hereditary dysphasic disinhibition dementia" NARROW []
synonym: "PPA" NARROW []
synonym: "ubiquitin-positive frontotemporal dementia" EXACT []
xref: ICD10CM:G31.0
xref: MIM:607485
xref: MONDO:0011842
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9255 ! frontotemporal dementia

[Term]
id: DOID:0060673
name: Peters anomaly
def: "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11403040 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12614756 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8162071 "DO"]
synonym: "irido-corneo-trabecular dysgenesis" NARROW []
xref: GARD:7377
xref: ICD10CM:Q13.4
xref: MESH:C537884
xref: ORDO:708
is_a: DOID:0080610 ! anterior segment dysgenesis 5
is_a: DOID:9008606 ! Corneal Opacity

[Term]
id: DOID:0060674
name: catecholaminergic polymorphic ventricular tachycardia
def: "A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1289 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17875969 "DO"]
synonym: "bidirectional tachycardia induced by catecholamines" EXACT []
synonym: "catecholamine-induced polymorphic ventricular tachycardia" EXACT []
synonym: "stress-induced polymorphic ventricular tachycardia" RELATED []
synonym: "VTSIP" RELATED []
xref: EFO:0004692
xref: MESH:C536334
xref: MIM:PS604772
xref: ORDO:3286
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:10273 ! heart conduction disease
is_a: DOID:9005141 ! Ventricular Tachycardia

[Term]
id: DOID:0060675
name: catecholaminergic polymorphic ventricular tachycardia 1
alt_id: DOID:0110071
def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12093772 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17875969 "DO"]
synonym: "arrhythmogenic right ventricular cardiomyopathy 2" EXACT []
synonym: "arrhythmogenic right ventricular cardiomyopathy type 2" EXACT []
synonym: "arrhythmogenic right ventricular dysplasia 2" EXACT []
synonym: "ARVC2" EXACT []
synonym: "ARVD2" EXACT []
synonym: "catecholaminergic polymorphic ventricular tachycardia 1, with or without atrial dysfunction and/or dilated cardiomyopathy" EXACT []
synonym: "catecholaminergic polymorphic ventricular tachycardia type 1" EXACT []
synonym: "CPVT1" EXACT []
synonym: "CVPT1" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 2" EXACT []
synonym: "RYR2-RELATED CONDITION" BROAD []
synonym: "stress-induced polymorphic ventricular tachycardia 1" EXACT []
synonym: "VTSIP1" EXACT []
xref: MESH:C563409
xref: MIM:604772
xref: MONDO:0011484
xref: NCI:C123414
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy
is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0060676
name: catecholaminergic polymorphic ventricular tachycardia 2
def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11401939 "DO"]
synonym: "CPVT2" EXACT []
synonym: "CVPT2" EXACT []
synonym: "ventricular tachycardia, stress-induced polymorphic 2" EXACT []
synonym: "VTSIP2" EXACT []
xref: ICD10CM:I47.2
xref: MIM:611938
xref: MONDO:0012762
is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia

[Term]
id: DOID:0060677
name: catecholaminergic polymorphic ventricular tachycardia 3
def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17666061 "DO"]
synonym: "CPVT3" EXACT []
synonym: "CVPT3" EXACT []
synonym: "TECRL-RELATED CONDITION" EXACT []
xref: MIM:614021
is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia

[Term]
id: DOID:0060678
name: catecholaminergic polymorphic ventricular tachycardia 4
def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23040497 "DO"]
synonym: "CPVT4" EXACT []
synonym: "CVPT4" EXACT []
xref: MIM:614916
is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia

[Term]
id: DOID:0060679
name: catecholaminergic polymorphic ventricular tachycardia 5
def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22422768 "DO"]
synonym: "CARDAR" EXACT []
synonym: "cardiac arrhythmia syndrome, with or without skeletal muscle weakness" EXACT []
synonym: "catecholaminergic polymorphic ventricular tachycardia 5, with or without muscle weakness" EXACT []
synonym: "CPVT5" EXACT []
synonym: "CVPT5" EXACT []
xref: MIM:615441
is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia
is_a: DOID:9005532 ! Muscle Weakness

[Term]
id: DOID:0060680
name: pigment dispersion syndrome
alt_id: MIM:600510
def: "An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10192392 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3947295 "DO"]
synonym: "glaucoma-related pigment dispersion syndrome" EXACT []
synonym: "GPDS1" EXACT []
synonym: "PDS" EXACT []
synonym: "pigment-dispersion type glaucoma" EXACT []
xref: MESH:C563184
xref: MONDO:0010896
is_a: DOID:1067 ! open-angle glaucoma
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0060681
name: autosomal dominant nocturnal frontal lobe epilepsy
def: "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7895015 "DO"]
synonym: "Adnfle" EXACT []
synonym: "autosomal dominant epilepsy" EXACT []
synonym: "ENFL" EXACT []
synonym: "nocturnal epilepsy, frontal lobe type" EXACT []
synonym: "nocturnal frontal lobe epilepsy" EXACT []
xref: GARD:11918
xref: MESH:C579932
xref: MIM:PS600513
xref: ORDO:98784
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3331 ! frontal lobe epilepsy

[Term]
id: DOID:0060682
name: autosomal dominant nocturnal frontal lobe epilepsy 1
alt_id: MIM:600513
def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7550350 "DO"]
synonym: "CHRNA4-RELATED CONDITION" BROAD []
synonym: "ENFL1" EXACT []
synonym: "EPILEPSY, NOCTURNAL FRONTAL LOBE, 1" EXACT []
synonym: "Epilepsy, Nocturnal Frontal Lobe, Type 1" EXACT []
xref: MESH:C563930
xref: RDO:0013054
is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy

[Term]
id: DOID:0060683
name: autosomal dominant nocturnal frontal lobe epilepsy 2
alt_id: MIM:603204
def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9758605 "DO"]
synonym: "ENFL2" EXACT []
synonym: "EPILEPSY, NOCTURNAL FRONTAL LOBE, 2" EXACT []
synonym: "Epilepsy, Nocturnal Frontal Lobe, Type 2" EXACT []
xref: MESH:C566400
xref: RDO:0014765
is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy

[Term]
id: DOID:0060684
name: autosomal dominant nocturnal frontal lobe epilepsy 3
alt_id: RDO:0014001
def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11062464 "DO"]
synonym: "ENFL3" EXACT []
synonym: "EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3" EXACT []
synonym: "nocturnal frontal lobe epilepsy 3" EXACT []
xref: MESH:C565334
xref: MIM:605375
is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy

[Term]
id: DOID:0060685
name: autosomal dominant nocturnal frontal lobe epilepsy 4
alt_id: MIM:610353
def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16826524 "DO"]
synonym: "ENFL4" EXACT []
synonym: "familial epilepsy with nocturnal wandering and ictal fear" EXACT []
synonym: "nocturnal frontal lobe epilepsy 4" EXACT []
synonym: "nocturnal frontal lobe epilepsy type 4" EXACT []
xref: MESH:C563679
is_a: DOID:0060169 ! benign familial infantile epilepsy
is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy
is_a: DOID:9007418 ! Somnambulism

[Term]
id: DOID:0060686
name: autosomal dominant nocturnal frontal lobe epilepsy 5
def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23086396 "DO"]
synonym: "ENFL5" EXACT []
synonym: "Epilepsy, Nocturnal Frontal Lobe, 5" EXACT []
synonym: "Epilepsy, Nocturnal Frontal Lobe, Type 5" EXACT []
xref: MIM:615005
xref: RDO:9000290
is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy

[Term]
id: DOID:0060688
name: arteriovenous malformations of the brain
alt_id: MIM:108010
def: "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7193302 "DO"]
synonym: "BAVM" EXACT []
synonym: "Cerebral Arteriovenous Malformation" EXACT []
synonym: "cerebral arteriovenous malformations" EXACT []
synonym: "CEREBRAL ARTERIOVENOUS MALFORMATIONS  INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO" NARROW []
synonym: "congenital intracranial arteriovenous malformations" EXACT []
synonym: "intracranial arteriovenous malformation" EXACT []
synonym: "intracranial arteriovenous malformations" EXACT []
synonym: "intracranial AVM (arteriovenous malformation)" EXACT []
synonym: "ruptured intracranial arteriovenous malformation" EXACT []
xref: EFO:0003916
xref: ICD10CM:Q28.2
xref: MESH:D002538
xref: MONDO:0007154
xref: ORDO:46724
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:11294 ! arteriovenous malformation
is_a: DOID:13089 ! intracranial arterial disease
is_a: DOID:9003443 ! Central Nervous System Vascular Malformations

[Term]
id: DOID:0060689
name: atrichia with papular lesions
alt_id: MIM:209500
def: "An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10205263 "DO"]
synonym: "APL" EXACT []
synonym: "papular atrichia" EXACT []
xref: ICD10CM:L65.8
xref: MESH:C565924
xref: ORDO:86819
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2731 ! vesiculobullous skin disease
is_a: DOID:987 ! alopecia

[Term]
id: DOID:0060690
name: autosomal dominant auditory neuropathy 1
alt_id: MIM:609129
def: "An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15520414 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20624953 "DO"]
synonym: "auditory neuropathy, nonsyndromic dominant" EXACT []
synonym: "AUNA1" EXACT []
synonym: "DIAPH3-RELATED CONDITION" EXACT []
synonym: "NSDAN" EXACT []
xref: MESH:C563790
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
is_a: DOID:9001890 ! Auditory Neuropathy

[Term]
id: DOID:0060691
name: platelet-type bleeding disorder 16
alt_id: MIM:187800
def: "A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18065693 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21454453 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9834222 "DO"]
synonym: "autosomal dominant Glanzmann thrombasthenia" EXACT []
synonym: "autosomal dominant thrombasthenia of Glanzmann and Naegeli" EXACT []
synonym: "BDPLT16" EXACT []
synonym: "Glanzmann thrombasthenia-like with macrothromocytopenia 1" EXACT []
xref: MESH:C566061
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2219 ! Glanzmann's thrombasthenia

[Term]
id: DOID:0060692
name: platelet-type bleeding disorder 8
alt_id: MIM:609821
alt_id: OMIA:001564
def: "A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11196645 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20966167 "DO"]
synonym: "ADP platelet receptor P2Y12 defect" EXACT []
synonym: "BDPLT8" EXACT []
synonym: "bleeding disorder due to P2RY12 defect" EXACT []
synonym: "bleeding disorder, P2RY12" EXACT []
synonym: "bleeding disorder, P2RY12-related" EXACT []
synonym: "IMPAIRED ADP-INDUCED PLATELET AGGREGATION" EXACT []
synonym: "P2Y12 defect" EXACT []
xref: MESH:C565220
xref: ORDO:36355
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:0060693
name: Brunner syndrome
alt_id: MIM:300615
alt_id: RDO:0012534
def: "An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8211186 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8503438 "DO"]
synonym: "ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO" NARROW []
synonym: "BRNRS" EXACT []
synonym: "MAOA-RELATED CONDITION" EXACT []
synonym: "monoamine oxidase A deficiency" EXACT []
xref: ICD10CM:E70.8
xref: MESH:C563156
xref: ORDO:3057
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10937 ! impulse control disorder
is_a: DOID:225 ! syndrome
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0060694
name: Cayman type cerebellar ataxia
alt_id: MIM:601238
def: "An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14556008 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8845847 "DO"]
synonym: "ATCAY" EXACT []
synonym: "Cayman ataxia" EXACT []
synonym: "Cayman cerebellar ataxia" EXACT []
xref: ICD10CM:G11.0
xref: MESH:C563363
xref: ORDO:94122
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0060695
name: hyperekplexia
alt_id: OMIA:001594
def: "A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12427512 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1334371 "DO"]
synonym: "congenital stiff man syndrome" EXACT []
synonym: "exagerrated startle reflex" EXACT []
synonym: "exaggerated startle reaction" EXACT []
synonym: "hyperekplexias" EXACT []
synonym: "Kok disease" EXACT []
synonym: "startle disease" EXACT []
synonym: "STHE" EXACT []
xref: GARD:3129
xref: MESH:D000071017
xref: MIM:PS149400
is_a: DOID:331 ! central nervous system disease
is_a: DOID:9001480 ! Muscle Rigidity

[Term]
id: DOID:0060696
name: hyperekplexia 1
def: "A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7881416 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8298642 "DO"]
synonym: "GLRA1-RELATED CONDITION" EXACT []
synonym: "hereditary hyperekplexia 1" EXACT []
synonym: "HKPX1" EXACT []
xref: MIM:149400
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060695 ! hyperekplexia
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0060697
name: hyperekplexia 2
def: "A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11929858 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21391991 "DO"]
synonym: "GLRB-RELATED CONDITION" EXACT []
synonym: "HKPX2" EXACT []
xref: ICD10CM:G25.8
xref: MIM:614619
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060695 ! hyperekplexia

[Term]
id: DOID:0060698
name: hyperekplexia 3
def: "A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16751771 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22700964 "DO"]
synonym: "HKPX3" EXACT []
xref: MIM:614618
xref: ORDO:3197
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060695 ! hyperekplexia

[Term]
id: DOID:0060699
name: familial hypocalciuric hypercalcemia
def: "A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19809483 "DO"]
synonym: "familial benign hypercalcemia" EXACT []
synonym: "familial benign hypocalciuric hypercalcemia" EXACT []
synonym: "FBH" EXACT []
synonym: "FBHH" EXACT []
synonym: "FHH" EXACT []
synonym: "NEPHROLITHIASIS/NEPHROCALCINOSIS" NARROW []
xref: GARD:10828
xref: MIM:PS145980
xref: NCI:C123262
xref: ORDO:405
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12678 ! hypercalcemia
is_a: DOID:655 ! inherited metabolic disorder
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0060700
name: familial hypocalciuric hypercalcemia 1
alt_id: MIM:145980
alt_id: RDO:0002925
def: "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7916660 "DO"]
synonym: "familial benign hypercalcemia 1" EXACT []
synonym: "familial benign hypercalcemia type 1" EXACT []
synonym: "familial hypocalciuric hypercalcemia, type 1" EXACT []
synonym: "familial hypocalciuric hypercalcemia, type I" EXACT []
synonym: "FBH1" EXACT []
synonym: "FHH1" EXACT []
synonym: "FHH type 1" EXACT []
synonym: "HHC1" EXACT []
synonym: "hypocalciuric hypercalcemia type I" EXACT []
xref: ICD10CM:E83.5
xref: MESH:C537145
xref: ORDO:93372
is_a: DOID:0060699 ! familial hypocalciuric hypercalcemia

[Term]
id: DOID:0060701
name: familial hypocalciuric hypercalcemia 2
alt_id: MIM:145981
def: "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23802516 "DO"]
synonym: "familial benign hypercalcemia, type 2" EXACT []
synonym: "familial benign hypercalcemia, type II" EXACT []
synonym: "familial hypocalciuric hypercalcemia type 2" EXACT []
synonym: "familial hypocalciuric hypercalcemia, type II" EXACT []
synonym: "FBH2" EXACT []
synonym: "FHH type 2" EXACT []
synonym: "HHC2" EXACT []
synonym: "hypocalciuric hypercalcemia type II" EXACT []
xref: GARD:9758
xref: MESH:C537146
xref: ORDO:101049
is_a: DOID:0060699 ! familial hypocalciuric hypercalcemia

[Term]
id: DOID:0060702
name: familial hypocalciuric hypercalcemia 3
alt_id: MIM:600740
def: "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23222959 "DO"]
synonym: "familial benign hypercalcemia, Oklahoma type" EXACT []
synonym: "familial benign hypercalcemia, Oklahoma variant" EXACT []
synonym: "familial benign hypercalcemia, type III" EXACT []
synonym: "familial hypocalciuric hypercalcemia type 3" EXACT []
synonym: "familial hypocalciuric hypercalcemia type III" EXACT []
synonym: "FBH3" EXACT []
synonym: "FHH type 3" EXACT []
synonym: "HHC3" EXACT []
synonym: "hypocalciuric hypercalcemia type III" EXACT []
xref: GARD:2878
xref: MESH:C537147
xref: ORDO:101050
is_a: DOID:0060699 ! familial hypocalciuric hypercalcemia

[Term]
id: DOID:0060703
name: Muenke syndrome
alt_id: MIM:602849
def: "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18000976 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9042914 "DO"]
synonym: "FGFR3-associated coronal synostosis" EXACT []
synonym: "FGFR3-related craniosynostosis" EXACT []
synonym: "MNKES" EXACT []
synonym: "Muenke nonsyndromic coronal craniosynostosis" EXACT []
synonym: "syndrome of coronal craniosynostosis" EXACT []
xref: GARD:7097
xref: MESH:C537369
xref: NCI:C84904
xref: ORDO:53271
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:0060704
name: lymphoproliferative syndrome
def: "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/198660 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22197273 "DO"]
synonym: "Combined immunodeficiency due to ITK deficiency" EXACT []
synonym: "Duncan's syndrome" EXACT []
synonym: "Duncan disease" EXACT []
synonym: "EBV infection, severe, susceptibility to" RELATED []
synonym: "EBVS" EXACT []
synonym: "Epstein Barr Virus Induced Lymphoproliferative Disease In Males" EXACT []
synonym: "Epstein Barr Virus Infection, Familial Fatal" EXACT []
synonym: "Familial Fatal Epstein Barr Infection" EXACT []
synonym: "IMD5" EXACT []
synonym: "Immunodeficiency 5" EXACT []
synonym: "Immunodeficiency, X Linked Progressive Combined Variable" EXACT []
synonym: "INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO" EXACT []
synonym: "Lymphoproliferative Disorder" EXACT []
synonym: "lymphoproliferative disorders" EXACT []
synonym: "Lymphoproliferative disorders, susceptibility to" RELATED []
synonym: "LYP" EXACT []
synonym: "Purtilo Syndrome" EXACT []
synonym: "Purtilo Syndromes" EXACT []
synonym: "X Linked Lymphoproliferative Disease" EXACT []
synonym: "X-linked lymphoproliferative diseases" EXACT []
synonym: "X-linked lymphoproliferative disorder" EXACT []
synonym: "X-linked lymphoproliferative disorders" EXACT []
synonym: "X-linked lymphoproliferative syndrome" EXACT []
synonym: "X-linked lymphoproliferative syndromes" EXACT []
synonym: "XLP" EXACT []
synonym: "XLPD" EXACT []
xref: MESH:D008232
xref: MIM:PS308240
xref: ORDO:538963
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:75 ! lymphatic system disease
is_a: DOID:9008463 ! Immunoproliferative Disorders

[Term]
id: DOID:0060705
name: X-linked lymphoproliferative syndrome 1
def: "A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6283885 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9771704 "DO"]
synonym: "SH2D1A-RELATED CONDITION" EXACT []
synonym: "XLP1" EXACT []
xref: GARD:7906
xref: MIM:308240
xref: NCI:C170434
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:0080012 ! X-linked recessive disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0060706
name: X-linked lymphoproliferative syndrome 2
alt_id: MIM:300635
def: "A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17080092 "DO"]
synonym: "XIAP deficiency" EXACT []
synonym: "XLP2" EXACT []
xref: GARD:10916
xref: ICD10CM:D82.3
xref: MESH:C564469
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0060707
name: lymphoproliferative syndrome 1
def: "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19425169 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21109689 "DO"]
synonym: "EBV-associated lymphoproliferative syndrome, autosomal 1" EXACT []
synonym: "LPFS1" EXACT []
xref: MESH:C567815
xref: MIM:613011
xref: MONDO:0013081
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060704 ! lymphoproliferative syndrome

[Term]
id: DOID:0060708
name: lymphoproliferative syndrome 2
alt_id: RDO:9000525
def: "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22197273 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22801960 "DO"]
synonym: "CD27 deficiency" EXACT []
synonym: "LPFS2" EXACT []
xref: ICD10CM:D47.9
xref: MIM:615122
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060704 ! lymphoproliferative syndrome

[Term]
id: DOID:0060710
name: autosomal recessive congenital ichthyosis 2
alt_id: MIM:242100
def: "An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11773004 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16116617 "DO"]
synonym: "ALOX12B-RELATED CONDITION" EXACT []
synonym: "ARCI2" EXACT []
synonym: "COLLODION BABY, SELF-HEALING" EXACT []
synonym: "ichthyosiform erythroderma, BROCQ congenital, nonbullous form" EXACT []
synonym: "NCIE1" EXACT []
synonym: "Nonbullous congenital ichthyosiform erythroderma 1" EXACT []
xref: MESH:C538603
xref: NCI:C132827
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:0060711
name: autosomal recessive congenital ichthyosis 3
def: "An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11398099 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11773004 "DO"]
synonym: "ARCI3" EXACT []
synonym: "COLLODION BABY, SELF-HEALING" EXACT []
synonym: "lamellar ichthyosis 5" EXACT []
synonym: "lamellar ichthyosis type 5" EXACT []
synonym: "LI5" EXACT []
xref: MESH:C564699
xref: MIM:606545
xref: MONDO:0011680
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:0060712
name: autosomal recessive congenital ichthyosis 4A
alt_id: MIM:601277
def: "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10094194 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20672373 "DO"]
synonym: "ARCI4A" EXACT []
synonym: "Ichthyosis congenita 2B" EXACT []
synonym: "ichthyosis congenita IIB" EXACT []
synonym: "ICR2B" EXACT []
synonym: "lamellar ichthyosis 2" EXACT []
synonym: "lamellar ichthyosis, type 2" EXACT []
synonym: "LI2" EXACT []
xref: MESH:C537264
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:0060713
name: autosomal recessive congenital ichthyosis 4B
alt_id: MIM:242500
def: "An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO)" [https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/21339420 "DO"]
synonym: "ARCI4B" EXACT []
synonym: "harlequin baby syndrome" EXACT []
synonym: "harlequin fetus" EXACT []
synonym: "harlequin ichthyoses" EXACT []
synonym: "harlequin ichthyosis" EXACT []
synonym: "harlequin type ichthyosis" EXACT []
synonym: "harlequin type ichthyosis congenita" EXACT []
synonym: "harlequin type ichthyosis fetalis" EXACT []
synonym: "HI" EXACT []
synonym: "ichthyosis congenita, harlequin fetus type" EXACT []
synonym: "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (HARLEQUIN)" EXACT []
xref: ICD10CM:Q80.4
xref: MESH:C538424
xref: NCI:C98934
xref: ORDO:457
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:0060714
name: autosomal recessive congenital ichthyosis 5
alt_id: MESH:C565749
alt_id: MIM:604777
def: "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10712223 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16436457 "DO"]
synonym: "ARCI5" EXACT []
synonym: "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis" EXACT []
synonym: "ichthyosis congenita 3" EXACT []
synonym: "ichthyosis congenita III" EXACT []
synonym: "lamellar ichthyosis 3" EXACT []
synonym: "lamellar ichthyosis, type 3" EXACT []
synonym: "LI3" EXACT []
synonym: "NNCI" EXACT []
xref: MESH:C537265
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:0060715
name: autosomal recessive congenital ichthyosis 6
alt_id: OMIA:001980
def: "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16436457 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17557927 "DO"]
synonym: "ARCI6" EXACT []
synonym: "autosomal recessive congenital ichthyosis, NIPAL4-related" EXACT []
synonym: "ichthyosis, NIPAL4-related" EXACT []
xref: ICD10CM:Q80.2
xref: MIM:612281
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:0060716
name: autosomal recessive congenital ichthyosis 7
def: "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16117785 "DO"]
synonym: "ARCI7" EXACT []
xref: MIM:615022
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:0060717
name: autosomal recessive congenital ichthyosis 8
def: "An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21439540 "DO"]
synonym: "ARCI8" EXACT []
synonym: "lamellar ichthyosis 4" EXACT []
synonym: "late-onset lamellar ichthyosis" EXACT []
synonym: "LI4" EXACT []
xref: MIM:613943
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:0060718
name: autosomal recessive congenital ichthyosis 9
def: "An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21093221 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23754960 "DO"]
synonym: "ARCI9" EXACT []
xref: MIM:615023
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:0060719
name: autosomal recessive congenital ichthyosis 10
alt_id: OMIA:001588
def: "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22246504 "DO"]
synonym: "ARCI10" EXACT []
synonym: "Ichthyosis, Golden Retriever" NARROW []
synonym: "Ichthyosis, PNPLA1-related" EXACT []
synonym: "PNPLA1-RELATED CONDITION" EXACT []
xref: MIM:615024
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:0060720
name: autosomal recessive congenital ichthyosis 11
alt_id: MESH:C536273
def: "An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17273967 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18843291 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9450882 "DO"]
synonym: "ARCI11" EXACT []
synonym: "ARIH" EXACT []
synonym: "autosomal recessive ichthyosis with hypotrichosis" EXACT []
synonym: "hypotrichosis-congenital ichthyosis syndrome" EXACT []
synonym: "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis" EXACT []
synonym: "ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis" EXACT []
synonym: "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome" EXACT []
synonym: "ichthyosis-follicular atrophoderma-hypotrichosis syndrome" EXACT []
synonym: "ichthyosis-hypotrichosis syndrome" EXACT []
synonym: "IFAH" EXACT []
synonym: "IFAH syndrome" EXACT []
synonym: "IHS" EXACT []
xref: MIM:602400
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:0060728
name: NGLY1-deficiency
def: "A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24651605 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27388694 "DO"]
synonym: "CDDG" EXACT []
synonym: "CDDG1" EXACT []
synonym: "CDG1V" RELATED []
synonym: "CDG IV" RELATED []
synonym: "CDGIV" RELATED []
synonym: "congenital disorder of deglycosylation" EXACT []
synonym: "congenital disorder of deglycosylation 1" EXACT []
synonym: "congenital disorder of glycosylation 1V" RELATED []
synonym: "congenital disorder of glycosylation type Iv" RELATED []
synonym: "deficiency of N-glycanase 1" EXACT []
synonym: "NGLY1-CDDG" EXACT []
synonym: "NGLY1-RELATED CONDITION" EXACT []
xref: ICD10CM:E77.8
xref: MESH:C000626124
xref: MIM:615273
xref: MONDO:0800044
xref: NCI:C126746
xref: ORDO:404454
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:9003697 ! Congenital disorder of deglycosylation

[Term]
id: DOID:0060730
name: torsion dystonia 1
alt_id: MIM:128100
def: "A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11912106 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9288096 "DO"]
synonym: "DYSTONIA 1, TORSION, LATE-ONSET" NARROW []
synonym: "DYSTONIA, EARLY-ONSET ATYPICAL, WITH MYOCLONIC FEATURES" NARROW []
synonym: "dystonia musculorum deformans 1" EXACT []
synonym: "dystonia musculorum deformans type 1" EXACT []
synonym: "DYT1" EXACT []
synonym: "early-onset generalized torsion dystonia" EXACT []
synonym: "Early-Onset Primary Dystonia" EXACT []
synonym: "Early onset torsion dystonia" EXACT []
synonym: "EOTD" EXACT []
synonym: "Oppenheim's dystonia" EXACT []
synonym: "Oppenheim dystonia" EXACT []
synonym: "primary torsion dystonia" EXACT []
synonym: "torsion dystonia 1, autosomal dominant" EXACT []
xref: MESH:C538005
xref: NCI:C118780
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9008057 ! Dystonia Musculorum Deformans

[Term]
id: DOID:0060731
name: congenital central hypoventilation syndrome
def: "An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11840487 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12640453 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8135282 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8696331 "DO"]
synonym: "CCHS" EXACT []
synonym: "central hypoventilation syndrome, late-onset" NARROW []
synonym: "congenital central alveolar hypoventilation syndrome" EXACT []
synonym: "congenital central hypoventilation" EXACT []
synonym: "congenital failure of autonomic control" EXACT []
synonym: "congenital Ondine curse" EXACT []
synonym: "idiopathic congenital central alveolar hypoventilation" EXACT []
synonym: "OHD" NARROW []
synonym: "Ondine curse" EXACT []
synonym: "Ondine-Hirschsprung disease" EXACT []
synonym: "Ondine syndrome" EXACT []
synonym: "primary alveolar hypoventilation" EXACT []
xref: EFO:0020025
xref: GARD:8535
xref: ICD10CM:G47.3
xref: MESH:C536209
xref: MIM:PS209880
xref: NCI:C98889
xref: ORDO:661
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:11465 ! autonomic nervous system disease
is_a: DOID:225 ! syndrome
is_a: DOID:9003671 ! Hypoventilation
is_a: DOID:9220 ! central sleep apnea

[Term]
id: DOID:0060732
name: chromosome 9p deletion syndrome
alt_id: MIM:158170
def: "A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18452192 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4541805 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6985017 "DO"]
synonym: "9p syndrome" EXACT []
synonym: "Alfi syndrome" EXACT []
synonym: "chromosome 9, monosomy 9p" EXACT []
synonym: "Monosomy 9p" EXACT []
synonym: "monosomy 9p syndrome" EXACT []
xref: MESH:C538024
xref: ORDO:261112
is_a: DOID:0060388 ! chromosomal deletion syndrome

[Term]
id: DOID:0060733
name: junctional epidermolysis bullosa with pyloric atresia
alt_id: MIM:226730
alt_id: MIM:619817
def: "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16473856 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7545057 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9185503 "DO"]
synonym: "aplasia cutis congenita with gastrointestinal atresia" EXACT []
synonym: "Carmi syndrome" EXACT []
synonym: "EB-PA" EXACT []
synonym: "EB-PA-ACC" EXACT []
synonym: "epidermolysis bullosa junctionalis with pyloric atresia" EXACT []
synonym: "epidermolysis bullosa with pyloric atresia" EXACT []
synonym: "ITGB4-RELATED CONDITION" BROAD []
synonym: "JEB5B" EXACT []
synonym: "JEB6" EXACT []
synonym: "JEB-PA" EXACT []
synonym: "junctional epidermolysis bullosa 5B, with pyloric atresia" EXACT []
synonym: "junctional epidermolysis bullosa 6 with pyloric atresia" EXACT []
synonym: "junctional epidermolysis bullosa-pyloric atresia syndrome" EXACT []
synonym: "junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita" EXACT []
xref: ICD10CM:Q81.8
xref: MESH:C535377
xref: NCI:C162474
xref: ORDO:79403
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:3209 ! junctional epidermolysis bullosa

[Term]
id: DOID:0060735
name: epidermolysis bullosa simplex Dowling-Meara type
def: "An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1369/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/1372711 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1717157 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18374450 "DO"]
synonym: "EBS-DM" EXACT []
synonym: "EBSDM" EXACT []
synonym: "EBS-gen sev" EXACT []
synonym: "epidermolysis bullosa herpetiformis Dowling Meara" EXACT []
synonym: "epidermolysis bullosa herpetiformis Dowling-Meara type" EXACT []
synonym: "epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma" EXACT []
synonym: "epidermolysis bullosa simplex, herpetiformis" EXACT []
synonym: "generalized severe epidermolysis bullosa simplex" EXACT []
xref: ORDO:79396
is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0060736
name: epidermolysis bullosa simplex Ogna type
alt_id: MIM:131950
def: "An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11851880 "DO"]
synonym: "EBS5A" EXACT []
synonym: "EBS-O" EXACT []
synonym: "EBSOG" EXACT []
synonym: "Ebs-Og" EXACT []
synonym: "Epidermolysis bullosa simplex 1" EXACT []
synonym: "epidermolysis bullosa simplex 5A, Ogna type" EXACT []
xref: ICD10CM:Q81.0
xref: MESH:C535962
xref: ORDO:79401
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4644 ! epidermolysis bullosa simplex

[Term]
id: DOID:0060737
name: junctional epidermolysis bullosa Herlitz type
def: "A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18374450 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8012393 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8586427 "DO"]
synonym: "epidermolysis bullosa junctionalis, Herlitz type" EXACT []
synonym: "Epidermolysis Bullosa Letali" EXACT []
synonym: "epidermolysis bullosa letalis" EXACT []
synonym: "Herlitz-Pearson-type epidermolysis bullosa" EXACT []
synonym: "JEB-H" EXACT []
synonym: "JEB-Herlitz type" EXACT []
synonym: "junctional epidermolysis bullosa generalisata gravis" EXACT []
synonym: "junctional epidermolysis bullosa, generalized severe" EXACT []
synonym: "junctional epidermolysis bullosa gravis of Herlitz" EXACT []
synonym: "junctional epidermolysis bullosa, Herlitz-Pearson type" EXACT []
synonym: "lethal junctional epidermolysis bullosa" EXACT []
xref: ICD10CM:Q81.1
xref: ORDO:79404
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3209 ! junctional epidermolysis bullosa
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0060738
name: junctional epidermolysis bullosa non-Herlitz type
def: "A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10792571 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11810295 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18374450 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7550320 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7706760 "DO"]
synonym: "epidermolysis bullosa junctionalis, Disentis type" EXACT []
synonym: "epidermolysis bullosa junctionalis, non-Herlitz type" EXACT []
synonym: "epidermolysis bullosa junctionalis, severe nonlethal" EXACT []
synonym: "generalized junctional epidermolysis bullosa, non-Herlitz type" EXACT []
synonym: "JEB-nH gen" EXACT []
synonym: "JEN-nH" EXACT []
synonym: "junctional epidermolysis bullosa, Disentis type" EXACT []
synonym: "junctional epidermolysis bullosa generalisata mitis" EXACT []
synonym: "progressive epidermolysis bullosa junctionalis" EXACT []
xref: MESH:C562639
xref: ORDO:79402
xref: ORDO:89840
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3209 ! junctional epidermolysis bullosa

[Term]
id: DOID:0060739
name: hand-foot-genital syndrome
alt_id: MIM:140000
def: "A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5450271 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9020844 "DO"]
synonym: "hand-foot-uterus syndrome" EXACT []
synonym: "HFG" EXACT []
synonym: "HFGS" EXACT []
synonym: "HFG syndrome" EXACT []
synonym: "HFU" EXACT []
synonym: "HFU syndrome" EXACT []
xref: GARD:2594
xref: ICD10CM:Q51.2
xref: MESH:C535627
xref: ORDO:2438
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060740
name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
alt_id: MIM:251000
def: "A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1975493 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1977311 "DO"]
synonym: "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT []
synonym: "METHYLMALONIC ACIDURIA DUE TO COMPLETE METHYLMALONYL-COA MUTASE DEFICIENCY" NARROW []
synonym: "methylmalonic aciduria, mut(-) type" RELATED []
synonym: "methylmalonic aciduria, mut(0) type" RELATED []
synonym: "methylmalonic aciduria, mut type" NARROW []
synonym: "MMA due to MCM Deficiency" EXACT []
synonym: "vitamin B12-unresponsive methylmalonic aciduria" EXACT []
xref: ICD10CM:E71.1
xref: MESH:C565390
xref: NCI:C148366
xref: ORDO:27
is_a: DOID:14749 ! methylmalonic acidemia

[Term]
id: DOID:0060741
name: methylmalonic acidemia due to transcobalamin receptor defect
def: "A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20524213 "DO"]
synonym: "methylmalonic acidemia, TCblR type" EXACT []
synonym: "methylmalonic aciduria due to transcobalamin receptor defect" EXACT []
xref: MIM:613646
xref: NCI:C183527
xref: ORDO:280183
is_a: DOID:14749 ! methylmalonic acidemia

[Term]
id: DOID:0060742
name: methylmalonic acidemia cblA type
alt_id: MIM:251100
def: "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12438653 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5686220 "DO"]
synonym: "CblA methylmalonic acidemia" EXACT []
synonym: "cobalamin A disease" EXACT []
synonym: "methylmalonic acidemia cb1A type" EXACT []
synonym: "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT []
synonym: "methylmalonic aciduria (cobalamin deficiency) cblA type" EXACT []
synonym: "methylmalonic aciduria cb1A type" EXACT []
synonym: "methylmalonic aciduria cblA type" EXACT []
synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type" EXACT []
synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type" EXACT []
synonym: "METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A" EXACT []
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type" EXACT []
synonym: "MMA due to MCM deficiency" EXACT []
xref: EFO:0009073
xref: MESH:C537360
xref: NCI:C142171
xref: ORDO:79310
is_a: DOID:14749 ! methylmalonic acidemia

[Term]
id: DOID:0060743
name: methylmalonic acidemia cblB type
alt_id: MIM:251110
def: "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12471062 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7213387 "DO"]
synonym: "CblB methylmalonic acidemia" EXACT []
synonym: "Cobalamin B disease" EXACT []
synonym: "methylmalonic aciduria cb1B type" RELATED []
synonym: "methylmalonic aciduria cblB type" EXACT []
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--cbl B" EXACT []
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type" EXACT []
synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type" EXACT []
xref: EFO:0009074
xref: MESH:C537361
xref: NCI:C142172
xref: ORDO:79311
is_a: DOID:14749 ! methylmalonic acidemia

[Term]
id: DOID:0060744
name: Pendred syndrome
alt_id: MIM:274600
def: "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9398842 "DO"]
synonym: "autosomal recessive sensorineural hearing impairment and goiter" EXACT []
synonym: "congenital hypothyroidism due to dyshormonogenesis, 2B" EXACT []
synonym: "deafness with goiter" EXACT []
synonym: "genetic defect in thyroid hormonogenesis 2B" EXACT []
synonym: "Goiter-deafness syndrome" EXACT []
synonym: "PDS" EXACT []
synonym: "Pendred's syndrome" EXACT []
synonym: "SLC26A4-RELATED CONDITION" BROAD []
synonym: "SLC26A4-related disorder" BROAD []
synonym: "TDH2B" EXACT []
synonym: "thyroid dyshormonogenesis 2B" EXACT []
xref: GARD:4271
xref: ICD10CM:E07.1
xref: MESH:C536648
xref: NCI:C121745
xref: ORDO:705
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112183 ! familial thyroid dyshormonogenesis
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:13197 ! nodular goiter
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0060745
name: Doyne honeycomb retinal dystrophy
alt_id: MIM:126600
def: "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10369267 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11384588 "DO"]
synonym: "DHRD" EXACT []
synonym: "Doyne honeycomb degeneration of retina" NARROW []
synonym: "Malattia Leventinese" EXACT []
synonym: "MLVT" NARROW []
synonym: "radial drusen, autosomal dominant" NARROW []
xref: GARD:1912
xref: MESH:C535602
xref: ORDO:75376
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13561 ! optic disk drusen
is_a: DOID:2569 ! retinal drusen

[Term]
id: DOID:0060746
name: basal laminar drusen
alt_id: MIM:126700
def: "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252232 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5448127 "DO"]
synonym: "cuticular drusen" EXACT []
synonym: "drusen of Bruch membrane" EXACT []
synonym: "grouped drusen, early adult-onset" EXACT []
xref: MESH:C563034
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:2569 ! retinal drusen
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0060747
name: Duane-radial ray syndrome
def: "A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12393809 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12843316 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8882787 "DO"]
synonym: "acro-renal-ocular syndrome" EXACT []
synonym: "acrorenocular syndrome" EXACT []
synonym: "DRRS" EXACT []
synonym: "DR syndrome" EXACT []
synonym: "Duane anomaly with radial abnormalities and deafness" EXACT []
synonym: "Duane anomaly with radial ray abnormalities and deafness" EXACT []
synonym: "Okihiro syndrome" EXACT []
synonym: "SALL4-RELATED CONDITION" EXACT []
synonym: "SALL4-RELATED DISORDER" BROAD []
xref: GARD:9182
xref: MIM:607323
xref: MONDO:0011812
xref: ORDO:93293
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008296 ! Eye Abnormalities
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0060748
name: familial temporal lobe epilepsy 1
alt_id: MIM:600512
alt_id: RDO:0003114
alt_id: RDO:0008760
def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10851389 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12205652 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15079010 "DO"]
synonym: "ADLTE" EXACT []
synonym: "ADPEAF" EXACT []
synonym: "AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES" EXACT []
synonym: "Autosomal Dominant Lateral Temporal Lobe Epilepsy" EXACT []
synonym: "Autosomal dominant partial epilepsy with auditory features" EXACT []
synonym: "ETL1" EXACT []
synonym: "LGI1-RELATED CONDITION" EXACT []
synonym: "partial epilepsy with auditory features" EXACT []
xref: MESH:C537297
xref: NCI:C141441
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:535 ! sleep disorder
is_a: DOID:9004342 ! Familial Temporal Epilepsy

[Term]
id: DOID:0060749
name: familial temporal lobe epilepsy 6
alt_id: RDO:9002965
def: "A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24021842 "DO"]
synonym: "ETL6" EXACT []
xref: MIM:615697
xref: ORDO:163717
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9004342 ! Familial Temporal Epilepsy
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060750
name: familial temporal lobe epilepsy 3
alt_id: MIM:611630
alt_id: RDO:0009548
alt_id: RDO:0015117
def: "A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17377072 "DO"]
synonym: "EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE" EXACT []
synonym: "ETL3" EXACT []
synonym: "FMTLE" EXACT []
synonym: "MDR1 POLYMORPHISM" RELATED []
xref: MESH:C566903
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9004342 ! Familial Temporal Epilepsy
is_a: DOID:9004798 ! Drug Resistant Epilepsy

[Term]
id: DOID:0060751
name: familial temporal lobe epilepsy 7
def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26046367 "DO"]
synonym: "ETL7" EXACT []
synonym: "RELN-RELATED CONDITION" BROAD []
xref: MIM:616436
xref: ORDO:101046
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9004342 ! Familial Temporal Epilepsy

[Term]
id: DOID:0060752
name: familial temporal lobe epilepsy 5
alt_id: RDO:9000289
def: "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21922598 "DO"]
synonym: "CPA6-RELATED CONDITION" BROAD []
synonym: "ETL5" EXACT []
xref: MIM:614417
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9004342 ! Familial Temporal Epilepsy

[Term]
id: DOID:0060753
name: familial temporal lobe epilepsy 4
alt_id: MIM:611631
alt_id: RDO:0015116
def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17460155 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18332351 "DO"]
synonym: "Epilepsy, Occipitotemporal Lobe, And Migraine With Aura" EXACT []
synonym: "EPOLM" EXACT []
synonym: "ETL4" EXACT []
xref: MESH:C566902
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9004342 ! Familial Temporal Epilepsy

[Term]
id: DOID:0060754
name: familial temporal lobe epilepsy 8
alt_id: RDO:9001450
def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25691535 "DO"]
synonym: "ETL8" EXACT []
xref: MIM:616461
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9004342 ! Familial Temporal Epilepsy

[Term]
id: DOID:0060755
name: familial temporal lobe epilepsy 2
alt_id: RDO:0009163
def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12011300 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15342703 "DO"]
synonym: "ETL2" EXACT []
synonym: "FTLE" EXACT []
xref: MIM:608096
xref: ORDO:98819
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9004342 ! Familial Temporal Epilepsy

[Term]
id: DOID:0060756
name: sclerosteosis 1
def: "A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11179006 "DO"]
synonym: "SOST1" EXACT []
synonym: "SOST-RELATED CONDITION" BROAD []
xref: ICD10CM:M85.2
xref: MIM:269500
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060251 ! sclerosteosis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0060757
name: sclerosteosis 2
def: "A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21471202 "DO"]
synonym: "SOST2" EXACT []
xref: MIM:614305
xref: ORDO:3152
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060251 ! sclerosteosis

[Term]
id: DOID:0060758
name: immunodeficiency with hyper-IgM type 2
def: "A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11007475 "DO"]
synonym: "activation-induced cytidine deaminase deficiency" EXACT []
synonym: "AID deficiency" EXACT []
synonym: "HIGM2" EXACT []
synonym: "HIGM2 syndrome" EXACT []
synonym: "hyper IgM immunodeficiency syndrome type 2" EXACT []
synonym: "hyper IgM syndrome 2" EXACT []
synonym: "hyper-IgM syndrome type 2" EXACT []
xref: GARD:10578
xref: MIM:605258
xref: MONDO:0011528
xref: NCI:C129074
xref: ORDO:101089
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080544 ! hyper IgM syndrome
is_a: DOID:9005358 ! Hypergammaglobulinemia
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0060759
name: immunodeficiency with hyper IgM type 5
def: "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12958596 "DO"]
synonym: "HIGM5" EXACT []
synonym: "HIGM5 syndrome" EXACT []
synonym: "hyper IgM immunodeficiency syndrome type 5" EXACT []
synonym: "hyper-IgM syndrome 5" EXACT []
synonym: "hyper-IgM syndrome due to UNG deficiency" EXACT []
synonym: "hyper-IgM syndrome due to uracil N-glycosylase" EXACT []
xref: GARD:10581
xref: MIM:608106
xref: ORDO:101092
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080544 ! hyper IgM syndrome
is_a: DOID:9005358 ! Hypergammaglobulinemia
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0060760
name: immunodeficiency with hyper-IgM type 4
alt_id: MIM:608184
def: "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12840068 "DO"]
synonym: "HIGM4" EXACT []
synonym: "Hyper-Igm Syndrome 4" EXACT []
synonym: "hyper-IgM syndrome type 4" EXACT []
xref: GARD:10580
xref: MESH:C564277
xref: NCI:C564277
xref: ORDO:101091
is_a: DOID:0080544 ! hyper IgM syndrome
is_a: DOID:9005358 ! Hypergammaglobulinemia

[Term]
id: DOID:0060761
name: familial chronic myelocytic leukemia-like syndrome
alt_id: MIM:600080
def: "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8086739 "DO"]
synonym: "Cml-Like Syndrome, Familial" EXACT []
xref: MESH:C536093
is_a: DOID:8552 ! chronic myeloid leukemia
is_a: DOID:8692 ! myeloid leukemia
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:0060762
name: restrictive dermopathy
def: "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15317753 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20101687 "DO"]
synonym: "fetal hypokinesia sequence due to restrictive dermopathy" EXACT []
synonym: "hyperkeratosis-contracture syndrome" EXACT []
synonym: "infantile restrictive dermopathy" EXACT []
synonym: "lethal restrictive dermopathy" EXACT []
synonym: "lethal tight skin contracture syndrome" EXACT []
synonym: "tight skin contracture syndrome" EXACT []
xref: GARD:1516
xref: MESH:C536920
xref: MIM:PS275210
xref: ORDO:1662
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9006138 ! Laminopathies
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:0060763
name: X-linked juvenile retinoschisis 1
alt_id: RDO:9003957
def: "A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17172462 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9326935 "DO"]
synonym: "congenital X-linked retinoschisis" EXACT []
synonym: "juvenile retinoschisis, X chromosome-linked" EXACT []
synonym: "RS1" EXACT []
synonym: "X-linked juvenile retinoschisis" EXACT []
synonym: "X-linked retinoschisis" EXACT []
synonym: "XLRS" EXACT []
synonym: "XLRS1" EXACT []
xref: ICD10CM:Q14.1
xref: MIM:312700
xref: NCI:C75483
xref: ORDO:792
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:8465 ! retinoschisis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0060764
name: autosomal recessive Robinow syndrome
alt_id: MIM:268310
def: "A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10932186 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10932187 "DO"]
synonym: "autosomal recessive Robinow syndrome, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals" NARROW []
synonym: "autosomal recessive Robinow syndrome, with autosomal dominant brachydactyly type B1" NARROW []
synonym: "autosomal recessive Robinow syndrome, with brachy-syn-polydactyly" NARROW []
synonym: "BRACHYDACTYLY, TYPE B1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE" NARROW []
synonym: "costovertebral segmentation defect-mesomelia syndrome" EXACT []
synonym: "COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA" EXACT []
synonym: "Covesdem Syndrome" NARROW []
synonym: "ROR2-RELATED CONDITION" BROAD []
synonym: "ROR2-related disorder" BROAD []
synonym: "RRS" EXACT []
xref: MESH:C535863
xref: ORDO:1507
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060254 ! Robinow syndrome
is_a: DOID:9004563 ! Maxillofacial Abnormalities

[Term]
id: DOID:0060765
name: autosomal dominant Robinow syndrome 2
def: "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25817014 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26924530 "DO"]
synonym: "DRS2" EXACT []
xref: MIM:616331
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060254 ! Robinow syndrome
created_by: rgd
creation_date: 2017-04-03T00:00:00Z

[Term]
id: DOID:0060766
name: autosomal dominant Robinow syndrome 1
def: "A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19918918 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24716670 "DO"]
synonym: "DRS1" EXACT []
xref: MIM:180700
xref: ORDO:3107
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060254 ! Robinow syndrome
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0060767
name: autosomal dominant Robinow syndrome 3
def: "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26924530 "DO"]
synonym: "DRS3" EXACT []
synonym: "DVL3-RELATED CONDITION" EXACT []
xref: MIM:616894
xref: ORDO:97360
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060254 ! Robinow syndrome
created_by: rgd
creation_date: 2016-04-19T00:00:00Z

[Term]
id: DOID:0060768
name: Smith-Magenis syndrome
alt_id: MIM:182290
def: "A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1310/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/16845274 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21844811 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6745947 "DO"]
synonym: "17p11.2 microdeletion syndrome" EXACT []
synonym: "17p11.2 Monosomy" EXACT []
synonym: "Chromosome 17p11.2 Deletion Syndrome" EXACT []
synonym: "RAI1-RELATED CONDITION" EXACT []
synonym: "SMCR" EXACT []
synonym: "Smith-Magenis syndrome chromosome region" EXACT []
synonym: "SMITH-MAGENIS SYNDROME-LIKE" RELATED []
synonym: "SMS" EXACT []
xref: GARD:8197
xref: MESH:D058496
xref: NCI:C75469
xref: ORDO:819
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:9004980 ! Chronobiology Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060769
name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy
alt_id: MIM:601705
def: "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. (DO)" [https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy "DO", https://www.ncbi.nlm.nih.gov/pubmed/10206641 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8911612 "DO"]
synonym: "alymphoid cystic thymic dysgenesis" EXACT []
synonym: "congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency" EXACT []
synonym: "Pignata Guarino syndrome" EXACT []
synonym: "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome" EXACT []
synonym: "winged helix deficiency" EXACT []
xref: ICD10CM:D82.8
xref: MESH:C536781
xref: ORDO:169095
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:4123 ! nail disease
is_a: DOID:627 ! severe combined immunodeficiency
is_a: DOID:987 ! alopecia

[Term]
id: DOID:0060770
name: dextro-looped transposition of the great arteries
alt_id: DOID:0060771
alt_id: MESH:C563853
alt_id: MIM:608808
def: "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11799476 "DO"]
synonym: "congenitally uncorrected transposition of the great arteries" EXACT []
synonym: "congenitally uncorrected transposition of the great vessels" EXACT []
synonym: "dextro-looped transposition of the great arteries 1" EXACT []
synonym: "D-TGA" EXACT []
synonym: "DTGA1" EXACT []
synonym: "great arteries transposition" EXACT []
synonym: "great arteries transpositions" EXACT []
synonym: "great vessels transposition" EXACT []
synonym: "great vessels transpositions" EXACT []
synonym: "isolated ventriculoarterial discordance" EXACT []
synonym: "MED13L-RELATED CONDITION" BROAD []
synonym: "MED13L-related disorder" BROAD []
synonym: "transposition of great arteries" EXACT []
synonym: "transposition of great vessels" EXACT []
synonym: "TRANSPOSITION OF THE GREAT ARTERIES" EXACT []
synonym: "ventriculoarterial discordance with atrioventricular concordance" EXACT []
xref: ICD10CM:Q20.3
xref: MESH:D014188
xref: MONDO:0000153
xref: NCI:C84742
xref: ORDO:860
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:0060772
name: multiple types of congenital heart defects 6
def: "A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that\nhas_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17924340 "DO"]
synonym: "CHTD6" EXACT []
synonym: "congenital heart defects, multiple types, 6" EXACT []
synonym: "dextro-looped transposition of the great arteries 3" EXACT []
synonym: "DTGA3" EXACT []
synonym: "GDF1-RELATED CONDITION" BROAD []
synonym: "GDF1-RELATED DISORDERS" BROAD []
xref: MIM:613854
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060770 ! dextro-looped transposition of the great arteries
is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types

[Term]
id: DOID:0060773
name: cleft lip-palate-ectodermal dysplasia syndrome
alt_id: MIM:225060
def: "A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3035184 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9758630 "DO"]
synonym: "autosomal recessive ectodermal dysplasia" EXACT []
synonym: "Bustos Simosa Pinto Cisternas syndrome" EXACT []
synonym: "cleft lip/palate-syndactyly-pili torti syndrome" EXACT []
synonym: "CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7" NARROW []
synonym: "CLPED1" EXACT []
synonym: "Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly" EXACT []
synonym: "ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY  OROFACIAL CLEFT 7" NARROW []
synonym: "Ectodermal dysplasia Margarita island type" EXACT []
synonym: "ectodermal dysplasia type 4" EXACT []
synonym: "ED4" EXACT []
synonym: "Margarita type of ectodermal dysplasia" EXACT []
synonym: "OFC7" NARROW []
synonym: "syndactyly-ectodermal dysplasia-cleft/lip palate" EXACT []
synonym: "Zlotogora-Ogur syndrome" EXACT []
synonym: "Zlotogora-Zilberman-Tenenbaum syndrome" EXACT []
xref: GARD:375
xref: MESH:C536726
xref: NCI:C122656
xref: ORDO:3253
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080400 ! orofacial cleft 7
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11193 ! syndactyly
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0060774
name: congenital diarrhea
def: "A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22605972 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30894704 "DO"]
xref: MIM:PS214700
is_a: DOID:0080015 ! physical disorder
is_a: DOID:13250 ! diarrhea
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:0060775
name: microvillus inclusion disease
alt_id: MIM:251850
def: "A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18724368 "DO"]
synonym: "congenital familial protracted diarrhea with enterocyte brush-border abnormalities" EXACT []
synonym: "congenital microvillous atrophy" EXACT []
synonym: "congenital microvillus atrophy" EXACT []
synonym: "Davidson disease" EXACT []
synonym: "DIAR2" EXACT []
synonym: "diarrhea 2 with microvillus atrophy" EXACT []
synonym: "diarrhea with microvillus atrophy" EXACT []
synonym: "intractable diarrhea of infancy" EXACT []
synonym: "microvillus inclusion disease 1" EXACT []
synonym: "MVD" EXACT []
synonym: "MVID" EXACT []
synonym: "MVID1" EXACT []
synonym: "MYO5B-RELATED CONDITION" BROAD []
xref: GARD:7039
xref: MESH:C537470
xref: ORDO:2290
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060774 ! congenital diarrhea
is_a: DOID:3343 ! glycoproteinosis
is_a: DOID:9002984 ! Malabsorption Syndromes

[Term]
id: DOID:0060776
name: congenital diarrhea 5 with tufting enteropathy
alt_id: MIM:613217
def: "A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18572020 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23462293 "DO"]
synonym: "congenital diarrhoea 5 with tufting enteropathy" EXACT []
synonym: "congenital familial intractable diarrhea with epithelial or epithelium abnormalities" EXACT []
synonym: "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities" EXACT []
synonym: "congenital tufting enteropathy" EXACT []
synonym: "CTE" EXACT []
synonym: "DIAR5" EXACT []
synonym: "intestinal epithelial cell dysplasia" EXACT []
synonym: "tufting enteropathy" EXACT []
xref: MESH:C567703
xref: NCI:C183530
xref: ORDO:92050
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060774 ! congenital diarrhea
is_a: DOID:9002984 ! Malabsorption Syndromes
is_a: DOID:9007847 ! Infantile Diarrhea

[Term]
id: DOID:0060777
name: congenital secretory sodium diarrhea 8
def: "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26358773 "DO"]
synonym: "congenital sodium diarrhea" EXACT []
synonym: "CSD" EXACT []
synonym: "DIAR8" EXACT []
xref: MIM:616868
xref: ORDO:103908
is_a: DOID:0050129 ! secretory diarrhea
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060774 ! congenital diarrhea

[Term]
id: DOID:0060778
name: congenital diarrhea 7 with exudative enteropathy
alt_id: DOID:9009029
def: "A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23114594 "DO"]
synonym: "congenital chronic diarrhea with exudative enteropathy" EXACT []
synonym: "congenital chronic diarrhea with protein-losing enteropathy" EXACT []
synonym: "congenital chronic diarrhoea with exudative enteropathy" EXACT []
synonym: "congenital chronic diarrhoea with protein-losing enteropathy" EXACT []
synonym: "congenital diarrhoea 7 with exudative enteropathy" EXACT []
synonym: "DIAR7" EXACT []
synonym: "diarrhea 7" EXACT []
xref: ICD10CM:P78.3
xref: MIM:615863
xref: ORDO:329242
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060774 ! congenital diarrhea
is_a: DOID:9007847 ! Infantile Diarrhea
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0060779
name: congenital malabsorptive diarrhea 4
alt_id: MIM:610370
def: "A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16855267 "DO"]
synonym: "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" EXACT []
synonym: "congenital malabsorptive diarrhoea 4" EXACT []
synonym: "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells" EXACT []
synonym: "DIAR4" EXACT []
synonym: "enteric anendocrinosis" EXACT []
xref: MESH:C563673
xref: ORDO:83620
is_a: DOID:0050129 ! secretory diarrhea
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060774 ! congenital diarrhea
is_a: DOID:9002984 ! Malabsorption Syndromes

[Term]
id: DOID:0060780
name: congenital diarrhea 6
alt_id: DOID:9004022
def: "A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22436048 "DO"]
synonym: "chronic diarrhea due to guanylate cyclase 2C overactivity" EXACT []
synonym: "chronic diarrhoea due to guanylate cyclase 2C overactivity" EXACT []
synonym: "congenital diarrhoea 6" EXACT []
synonym: "DIAR6" EXACT []
synonym: "Diarrhea 6" EXACT []
xref: MIM:614616
xref: ORDO:314373
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060774 ! congenital diarrhea
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0060781
name: congenital secretory sodium diarrhea 3
alt_id: MIM:270420
def: "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19185281 "DO"]
synonym: "congenital secretory sodium diarrhea 3, syndromic" EXACT []
synonym: "congenital secretory sodium diarrhea 3, with or without other congenital anomalies" EXACT []
synonym: "congenital secretory sodium diarrhoea 3" EXACT []
synonym: "congenital secretory sodium diarrhoea 3 syndromic" EXACT []
synonym: "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies" EXACT []
synonym: "congenital sodium diarrhea" EXACT []
synonym: "CSD" EXACT []
synonym: "DIAR3" EXACT []
xref: MESH:C562576
is_a: DOID:0050129 ! secretory diarrhea
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060774 ! congenital diarrhea
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060782
name: EEC syndrome
def: "A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). (DO)" [https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome "DO"]
synonym: "cleft lip-cleft palate-lobster claw deformity syndrome" EXACT []
synonym: "ectrodactyly-cleft lip/palate syndrome" EXACT []
synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome" EXACT []
synonym: "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome" EXACT []
synonym: "ectrodactyly-ectodermal dysplasia-clefting syndrome" EXACT []
synonym: "Rudiger syndrome 1" EXACT []
synonym: "Walker-Clodius syndrome" EXACT []
xref: MESH:C536189
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:0060783
name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
alt_id: MIM:604292
def: "An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10535733 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8737655 "DO"]
synonym: "EEC3" EXACT []
synonym: "EEC Syndrome 3" EXACT []
xref: MESH:C565799
xref: NCI:C148261
is_a: DOID:0060782 ! EEC syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0060784
name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
alt_id: MIM:129900
def: "An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1424230 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5454938 "DO"]
synonym: "EEC" EXACT []
synonym: "EEC1" EXACT []
synonym: "EEC Syndrome 1" EXACT []
xref: MESH:C565062
xref: ORDO:1896
is_a: DOID:0060782 ! EEC syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0060785
name: adult-onset autosomal dominant demyelinating leukodystrophy
def: "A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16951681 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19151023 "DO"]
synonym: "ADLD" EXACT []
synonym: "adult-onset autosomal dominant leukodystrophy" EXACT []
synonym: "adult-onset leukodystrophy" EXACT []
synonym: "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease" EXACT []
synonym: "LMNB1-RELATED CONDITION" BROAD []
synonym: "multiple sclerosis-like disorder" EXACT []
synonym: "SYNDROME WITH MICROCEPHALY AS MAJOR FEATURE" NARROW []
xref: GARD:10587
xref: MESH:C566813
xref: MIM:169500
xref: MONDO:0008215
xref: ORDO:99027
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10579 ! leukodystrophy

[Term]
id: DOID:0060786
name: hypomyelinating leukodystrophy
def: "A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24916848/ "DO", https://pubmed.ncbi.nlm.nih.gov/25649058/ "DO", https://pubmed.ncbi.nlm.nih.gov/27234264/ "DO"]
synonym: "HLD" EXACT []
xref: MIM:PS312080
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0060787
name: hypomyelinating leukodystrophy 2
alt_id: MIM:608804
def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15192806 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18094336 "DO"]
synonym: "HLD2" EXACT []
synonym: "Pelizaeus-Merzbacher-Like disease, 1" EXACT []
synonym: "Pelizaeus-Merzbacher-like disease due to GJC2 mutation" EXACT []
synonym: "PMLD1" EXACT []
xref: MESH:C563855
xref: ORDO:280282
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy

[Term]
id: DOID:0060788
name: hypomyelinating leukodystrophy 10
def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25865492 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27130255 "DO"]
synonym: "HLD10" EXACT []
xref: MIM:616420
xref: MONDO:0014632
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy

[Term]
id: DOID:0060789
name: hypomyelinating leukodystrophy 4
alt_id: MIM:612233
def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18571143 "DO"]
synonym: "HLD4" EXACT []
synonym: "MITCHAP60 disease" EXACT []
synonym: "mitochondrial HSP60 chaperonopathy" EXACT []
synonym: "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" EXACT []
xref: MESH:C567390
xref: ORDO:280288
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:0060790
name: hypomyelinating leukodystrophy 3
def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21092922 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24958424 "DO"]
synonym: "HLD3" EXACT []
synonym: "leukodystrophy, hypomyelinating, 3" EXACT []
synonym: "Pelizaeus-Merzbacher-like disease, autosomal recessive, 2" EXACT []
synonym: "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" EXACT []
synonym: "perinatal sudanophilic leukodystrophy" EXACT []
xref: MESH:C536319
xref: MIM:260600
xref: MONDO:0009843
xref: ORDO:280293
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy

[Term]
id: DOID:0060791
name: hypomyelinating leukodystrophy 9
def: "A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24777941 "DO"]
synonym: "HLD9" EXACT []
synonym: "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT []
xref: MIM:616140
xref: MONDO:0014506
xref: ORDO:438114
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy

[Term]
id: DOID:0060792
name: hypomyelinating leukodystrophy 11
def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26151409 "DO"]
synonym: "4H leukodystrophy 3" EXACT []
synonym: "HLD11" EXACT []
synonym: "POLR1C-related disorder" BROAD []
synonym: "POLR1C-related disorders" BROAD []
xref: MIM:616494
xref: MONDO:0014666
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy

[Term]
id: DOID:0060793
name: hypomyelinating leukodystrophy 5
alt_id: MIM:610532
def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16951682 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17683097 "DO"]
synonym: "HLD5" EXACT []
synonym: "hypomyelination and congenital cataract" EXACT []
synonym: "hypomyelination and congenital cataract: HCC" EXACT []
synonym: "hypomyelination-congenital cataract syndrome" EXACT []
xref: ICD10CM:G37.8
xref: MESH:C567166
xref: ORDO:85163
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
is_a: DOID:83 ! cataract

[Term]
id: DOID:0060794
name: hypomyelinating leukodystrophy 7
def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12605447 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21855841 "DO"]
synonym: "4H leukodystrophy 1" EXACT []
synonym: "4H syndrome" EXACT []
synonym: "ADDH" EXACT []
synonym: "ataxia, delayed dentition, and hypomyelination" EXACT []
synonym: "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy" EXACT []
synonym: "dentoleukoencephalopathy" EXACT []
synonym: "HLD7" EXACT []
synonym: "hypomyelinating leukodystrophy 7, with hypodontia and hypogonadotropic hypogonadism" EXACT []
synonym: "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism" EXACT []
synonym: "hypomyelinating leukodystrophy, with hypodontia and hypogonadotropic hypogonadism" EXACT []
synonym: "hypomyelinating leukoencephalopathy with ataxia and delayed dentition" EXACT []
synonym: "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome" EXACT []
synonym: "HYPOMYELINATION-HYPOGONADOTROPIC HYPOGONADISM-HYPODONTIA SYNDROME" EXACT []
synonym: "leukodystrophy with oligodontia" EXACT []
synonym: "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" EXACT []
synonym: "POL III-related leukodystrophy" EXACT []
synonym: "POLR3A-RELATED DISORDERS" BROAD []
synonym: "POLR3A-RELATED NEUROLOGICAL DISORDER" BROAD []
synonym: "POLR3-RELATED LEUKODYSTROPHY" EXACT []
synonym: "TACH syndrome" EXACT []
synonym: "tremor-ataxia-central hypomyelination syndrome" EXACT []
xref: ICD10CM:G11.1
xref: MESH:C567313
xref: MIM:607694
xref: MONDO:0019505
xref: ORDO:137639
xref: ORDO:447893
xref: ORDO:447896
xref: ORDO:77295
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
is_a: DOID:13714 ! anodontia
is_a: DOID:1924 ! hypogonadism
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:0060795
name: hypomyelinating leukodystrophy 13
def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26545878 "DO"]
synonym: "HIKESHI-RELATED CONDITION" EXACT []
synonym: "HLD13" EXACT []
xref: MIM:616881
xref: MONDO:0014813
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy

[Term]
id: DOID:0060796
name: hypomyelinating leukodystrophy 12
alt_id: OMIA:002152
def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26307567 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27120463 "DO"]
synonym: "HLD12" EXACT []
synonym: "neuroaxonal dystrophy, VPS11-related" EXACT []
xref: MIM:616683
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy

[Term]
id: DOID:0060797
name: hypomyelinating leukodystrophy 8
alt_id: DOID:9003813
alt_id: MIM:614381
def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22036171 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22036172 "DO"]
synonym: "4H leukodystrophy 2" EXACT []
synonym: "cerebellar hypoplasia with endosteal sclerosis" EXACT []
synonym: "ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME" EXACT []
synonym: "HLD8" EXACT []
synonym: "hypomyelinating leukodystrophy 8 with hypodontia and hypogonadotropic hypogonadism" NARROW []
synonym: "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism" EXACT []
xref: MESH:C535353
xref: NCI:C180850
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
is_a: DOID:4254 ! osteosclerosis
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:0060798
name: hypomyelinating leukodystrophy 6
def: "A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23582646 "DO"]
synonym: "H-ABC" EXACT []
synonym: "HABC" EXACT []
synonym: "HLD6" EXACT []
synonym: "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum" EXACT []
synonym: "hypomyelination with atrophy of basal ganglia and cerebellum" EXACT []
xref: MESH:C567314
xref: MIM:612438
xref: MONDO:0012905
xref: NCI:C183310
xref: ORDO:139441
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy

[Term]
id: DOID:0060799
name: syndromic X-linked intellectual disability Lubs type
alt_id: DOID:0080713
alt_id: MIM:300260
def: "A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15689435 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20425814 "DO"]
synonym: "Lubs X-linked mental retardation syndrome" EXACT []
synonym: "MECP2 duplication syndrome" EXACT []
synonym: "MRXSL" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Lubs type" EXACT []
synonym: "syndromic X-linked mental retardation, Lubs type" EXACT []
synonym: "trisomy Xq28" EXACT []
synonym: "X-linked intellectual disability-hypotonia-recurrent infections syndrome" EXACT []
synonym: "X-linked mental retardation, Lubs type" EXACT []
synonym: "X-linked mental retardation with recurrent respiratory infections" EXACT []
synonym: "XLMR syndrome, Lubs type" EXACT []
xref: GARD:9781
xref: MESH:C537723
xref: NCI:C126747
xref: ORDO:85281
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:0080712 ! gene duplication disease

[Term]
id: DOID:0060800
name: syndromic X-linked intellectual disability 5
alt_id: MIM:304340
alt_id: RDO:0001074
alt_id: RDO:0013418
def: "A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19377476 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23756445 "DO"]
synonym: "Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures" EXACT []
synonym: "Fried syndrome" EXACT []
synonym: "MENTAL RETARDATION, X-LINKED 59" EXACT []
synonym: "mental retardation, X-linked syndromic 21" EXACT []
synonym: "mental retardation, X-linked syndromic 5" EXACT []
synonym: "mental retardation, X-linked syndromic, Fried type" EXACT []
synonym: "MRX59" EXACT []
synonym: "MRXS21" EXACT []
synonym: "MRXS5" EXACT []
synonym: "MRXSF" EXACT []
synonym: "Pettigrew syndrome" EXACT []
synonym: "PGS" EXACT []
synonym: "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" EXACT []
synonym: "X-linked mental retardation, with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT []
synonym: "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT []
xref: MESH:C535773
xref: MESH:C564470
xref: NCI:C124839
xref: ORDO:1568
xref: ORDO:85335
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:2785 ! Dandy-Walker syndrome
is_a: DOID:679 ! basal ganglia disease

[Term]
id: DOID:0060801
name: MEHMO syndrome
def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12032729 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9781023 "DO"]
synonym: "Borck type of X-linked syndromic mental retardation" EXACT []
synonym: "MEHMO" EXACT []
synonym: "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT []
synonym: "MRXS20" EXACT []
synonym: "MRXS25" EXACT []
synonym: "MRXSBRK" EXACT []
synonym: "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome" EXACT []
synonym: "X-linked MEHMO syndrome" EXACT []
synonym: "X-linked mental retardation, syndromic, Borck type" EXACT []
synonym: "X-linked syndromic mental retardation 20" EXACT []
synonym: "X-linked syndromic mental retardation 25" EXACT []
xref: MESH:C537451
xref: MIM:300148
xref: MONDO:0010258
xref: ORDO:85282
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:9970 ! obesity

[Term]
id: DOID:0060802
name: syndromic X-linked intellectual disability Snyder type
alt_id: MIM:309583
def: "A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14508504 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23696453 "DO"]
synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE" EXACT []
synonym: "MRXSSR" EXACT []
synonym: "SMS-RELATED DISORDER" EXACT []
synonym: "Snyder-Robinson mental retardation syndrome" EXACT []
synonym: "Snyder-Robinson syndrome" EXACT []
synonym: "spermine synthase deficiency" EXACT []
synonym: "SRS" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Snyder-Robinson type" EXACT []
synonym: "X-linked mental retardation, Snyder-Robinson type" EXACT []
xref: GARD:5615
xref: MESH:C536678
xref: ORDO:3063
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0060803
name: syndromic X-linked intellectual disability 17
def: "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21744492 "DO"]
synonym: "intellectual disability-alacrima-achalasia syndrome" EXACT []
synonym: "MRXS17" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder 17" EXACT []
synonym: "syndromic X-linked mental retardation 17" EXACT []
synonym: "X-linked mental retardation with alacrima and achalasia" EXACT []
xref: MIM:300858
xref: ORDO:289483
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0060804
name: syndromic X-linked intellectual disability 12
alt_id: MIM:309545
def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1357179 "DO"]
synonym: "MRXS12" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder 12" EXACT []
synonym: "syndromic X-linked mental retardation 12" EXACT []
synonym: "X-linked intellectual disability, Wilson type" EXACT []
xref: MESH:C564106
xref: ORDO:85290
is_a: DOID:0060309 ! syndromic X-linked intellectual disability

[Term]
id: DOID:0060805
name: Prieto syndrome
def: "A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1673297 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3121220 "DO"]
synonym: "MRXS2" EXACT []
synonym: "Prieto-Badia-Mulas syndrome" EXACT []
synonym: "Prieto X-linked mental retardation syndrome" EXACT []
synonym: "PRS" EXACT []
synonym: "X-linked dysmorphic syndrome with mental retardation" EXACT []
synonym: "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" EXACT []
synonym: "X-linked mental retardation, syndromic 2" EXACT []
synonym: "X-linked mental retardation, with dysmorphism and cerebral atrophy" EXACT []
xref: MESH:C535274
xref: MIM:309610
xref: MONDO:0010667
xref: ORDO:2958
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060806
name: syndromic X-linked intellectual disability Hedera type
alt_id: MIM:300423
def: "A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11782983 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15746149 "DO"]
synonym: "MRXE" EXACT []
synonym: "MRXSH" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Hedera type" EXACT []
synonym: "syndromic X-linked mental retardation, Hedera type" EXACT []
synonym: "X-linked mental retardation with epilepsy" EXACT []
xref: MESH:C564516
xref: ORDO:93952
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:0060807
name: syndromic X-linked intellectual disability Najm type
def: "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19165920 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21954287 "DO"]
synonym: "CASK-RELATED DISORDER" BROAD []
synonym: "intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia" EXACT []
synonym: "INTELLECTUAL DISABILITY, CASK-RELATED, X-LINKED" BROAD []
synonym: "Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia" EXACT []
synonym: "MICPCH" EXACT []
synonym: "MICPCH syndrome" EXACT []
synonym: "MRXSNA" EXACT []
synonym: "syndromic X-linked mental retardation, Najm type" EXACT []
synonym: "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" EXACT []
xref: EFO:0010954
xref: GARD:12669
xref: MESH:C567466
xref: MIM:300749
xref: MONDO:0010417
xref: ORDO:163937
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:10907 ! microcephaly

[Term]
id: DOID:0060808
name: syndromic X-linked intellectual disability 7
alt_id: MIM:300218
def: "A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10573017 "DO"]
synonym: "Ahmad X-linked mental retardation syndrome" EXACT []
synonym: "MRXS7" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder 7" EXACT []
synonym: "syndromic X-linked mental retardation 7" EXACT []
synonym: "X-linked intellectual disability, Ahmad type" EXACT []
xref: GARD:9156
xref: MESH:C537449
xref: ORDO:85274
is_a: DOID:0060309 ! syndromic X-linked intellectual disability

[Term]
id: DOID:0060809
name: syndromic X-linked intellectual disability Claes-Jensen type
def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10982473 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15586325 "DO"]
synonym: "KDM5C-RELATED CONDITION" EXACT []
synonym: "MRXSCJ" EXACT []
synonym: "MRXSJ" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Claes-Jensen type" EXACT []
synonym: "syndromic X-linked intellectual disability due to JARID1C mutation" EXACT []
synonym: "syndromic X-linked mental retardation, Claes-Jensen type" EXACT []
synonym: "syndromic X-linked mental retardation JARID1C-related" EXACT []
xref: MESH:C564494
xref: MIM:300534
xref: MONDO:0010355
xref: ORDO:85279
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0060810
name: syndromic X-linked intellectual disability type 10
alt_id: MIM:300438
def: "A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10521307 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17236142 "DO"]
synonym: "17beta-hydroxysteroid dehydrogenase type 10 deficiency" EXACT []
synonym: "17-Beta-Hydroxysteroid Dehydrogenase X Deficiency" EXACT []
synonym: "2-Methyl-3-Hydroxybutyric Aciduria" EXACT []
synonym: "2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency" EXACT []
synonym: "3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase Deficiency" EXACT []
synonym: "3-Hydroxyacyl-CoA Dehydrogenase II Deficiency" EXACT []
synonym: "3-Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency" EXACT []
synonym: "CAMR" EXACT []
synonym: "Chorioathetosis With Mental Retardation And Abnormal Behavior" EXACT []
synonym: "HSD10 deficiency, atypical type" EXACT []
synonym: "HSD10 disease, atypical type" EXACT []
synonym: "HSD10MD" EXACT []
synonym: "HSD10 MITOCHONDRIAL DISEASE" EXACT []
synonym: "HSD17B10 Deficiency" EXACT []
synonym: "HSD17B10-RELATED DISORDER" EXACT []
synonym: "Hydroxyacyl-CoA Dehydrogenase II Deficiency" EXACT []
synonym: "hydroxyacyl-CoA dehydrogenase type 2 deficiency" EXACT []
synonym: "MHBD deficiency" EXACT []
synonym: "MRXS10" EXACT []
synonym: "syndromic X-linked mental retardation 10" EXACT []
synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" EXACT []
xref: ICD10CM:G25.5
xref: MESH:C564560
xref: ORDO:85295
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:0060811
name: syndromic X-linked intellectual disability Turner type
alt_id: DOID:0060829
alt_id: MIM:300612
alt_id: MIM:309590
def: "A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252223 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7943042 "DO"]
synonym: "Brooks-Wisniewski-Brown syndrome" EXACT []
synonym: "HUWE1-RELATED CONDITION" EXACT []
synonym: "HUWE1-related disorder" BROAD []
synonym: "HUWE1-RELATED NEURODEVELOPMENTAL DISORDER" BROAD []
synonym: "JMS" EXACT []
synonym: "Juberg-Marsidi mental retardation syndrome" EXACT []
synonym: "Juberg-Marsidi syndrome" EXACT []
synonym: "mental retardation and macrocephaly syndrome" EXACT []
synonym: "MRXSBWB" EXACT []
synonym: "MRXST" EXACT []
synonym: "MRXS-Turner" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Turner type" EXACT []
synonym: "syndromic X-linked mental retardation, Brooks-Wisniewski-Brown type" EXACT []
synonym: "syndromic X-linked mental retardation, Turner type" EXACT []
synonym: "X-linked intellectual developmental disorder, Turner type" EXACT []
synonym: "X-linked intellectual disability, Brooks type" EXACT []
synonym: "X-linked mental retardation with growth delay, deafness, microgenitalism" EXACT []
synonym: "X-linked mental retardation with growth retardation, deafness, and microgenitalism" EXACT []
xref: MESH:C563154
xref: MESH:C567476
xref: ORDO:3056
xref: ORDO:85328
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007428 ! Muscle Spasticity

[Term]
id: DOID:0060812
name: syndromic X-linked intellectual disability Siderius type
alt_id: MIM:300263
def: "A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10398231 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16199551 "DO"]
synonym: "MRXSSD" EXACT []
synonym: "Siderius Hamel syndrome" EXACT []
synonym: "Siderius X-linked mental retardation syndrome" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Siderius type" EXACT []
synonym: "syndromic X-linked mental retardation, Siderius type" EXACT []
synonym: "X-linked mental retardation syndrome, Siderius type" EXACT []
xref: MESH:C537333
xref: ORDO:85287
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0060813
name: syndromic X-linked intellectual disability Shrimpton type
alt_id: MIM:300709
def: "A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10331611 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10797443 "DO"]
synonym: "MRXS9" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder 9" EXACT []
synonym: "syndromic X-linked mental retardation 9" EXACT []
xref: MESH:C567474
xref: ORDO:85324
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:10907 ! microcephaly

[Term]
id: DOID:0060814
name: Wilson-Turner syndrome
alt_id: MIM:309585
def: "A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1746601 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25644381 "DO"]
synonym: "MRXS6" EXACT []
synonym: "MRXSWT" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Wilson-Turner type" EXACT []
synonym: "syndromic X-linked mental retardation 6" EXACT []
synonym: "Wilson Turner mental retardation syndrome" EXACT []
synonym: "Wilson-Turner X-linked mental retardation syndrome" EXACT []
synonym: "WTS" EXACT []
synonym: "X-linked intellectual disability-gynecomastia-obesity syndrome" EXACT []
synonym: "X-linked mental retardation, with gynecomastia and obesity" EXACT []
xref: GARD:5579
xref: MESH:C536708
xref: ORDO:3459
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:12698 ! gynecomastia
is_a: DOID:225 ! syndrome
is_a: DOID:9970 ! obesity

[Term]
id: DOID:0060815
name: Miles-Carpenter syndrome
alt_id: MIM:314580
def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2018061 "DO"]
synonym: "Contractures of feet, muscle atrophy, and oculomotor apraxia" EXACT []
synonym: "MCS" EXACT []
synonym: "Miles-Carpenter X-linked mental retardation syndrome" EXACT []
synonym: "MRXS4" EXACT []
synonym: "oculomotor apraxia, with congenital contractures and muscle atrophy" EXACT []
synonym: "syndromic X-linked mental retardation 4" EXACT []
synonym: "Wieacker-Wolff syndrome" EXACT []
synonym: "Wieacker-Wolff syndrome (spectrum)" EXACT []
synonym: "WRWF" EXACT []
synonym: "X-linked intellectual disability, Miles-Carpenter type" EXACT []
synonym: "X-linked mental retardation with congenital contractures and low fingertip arches" EXACT []
synonym: "ZC4H2-RELATED X-LINKED INTELLECTUAL DISABILITY" EXACT []
xref: MESH:C536703
xref: MIM:PS314580
xref: MONDO:0025445
xref: ORDO:85283
is_a: DOID:0060135 ! apraxia
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:767 ! muscular atrophy
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:0060816
name: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
alt_id: MIM:300472
def: "A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14556245 "DO"]
synonym: "agenesis of corpus callosum with impaired intellectual development, ocular coloboma, and micrognathia" EXACT []
synonym: "agenesis of corpus callosum with mental retardation, ocular coloboma and micrognathia" EXACT []
synonym: "Graham-Cox syndrome" EXACT []
synonym: "IGBP1-RELATED CONDITION" EXACT []
synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC 28" EXACT []
synonym: "MRXS28" EXACT []
xref: MESH:C564509
xref: ORDO:52055
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:12270 ! coloboma
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9005616 ! Micrognathism

[Term]
id: DOID:0060817
name: syndromic X-linked intellectual disability 34
def: "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26571461 "DO"]
synonym: "macrocephaly-intellectual disability-left ventricular non compaction syndrome" EXACT []
synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE" EXACT []
synonym: "MRXS34" EXACT []
synonym: "MRXSML" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder 34" EXACT []
synonym: "syndromic X-linked mental retardation 34" EXACT []
xref: MIM:300967
xref: ORDO:466791
is_a: DOID:0060309 ! syndromic X-linked intellectual disability

[Term]
id: DOID:0060818
name: syndromic X-linked intellectual disability Abidi type
alt_id: MIM:300262
def: "A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10398233 "DO"]
synonym: "MRXSAB" EXACT []
synonym: "short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Abidi type" EXACT []
synonym: "syndromic X-linked mental retardation Abidi type" EXACT []
synonym: "X-linked mental retardation, Abidi type" EXACT []
xref: MESH:C535556
xref: ORDO:85273
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0060819
name: syndromic X-linked intellectual disability Chudley-Schwartz type
def: "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10398239 "DO"]
synonym: "MRXSCS" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Chudley-Schwartz type" EXACT []
synonym: "syndromic X-linked mental retardation, Chudley-Schwartz type" EXACT []
synonym: "X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance" EXACT []
xref: MIM:300861
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0060820
name: syndromic X-linked intellectual disability Nascimento type
def: "A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16909393 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20412111 "DO"]
synonym: "MRXS30" EXACT []
synonym: "MRXSN" EXACT []
synonym: "Nascimento form of syndromic X-linked intellectual developmental disorder" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Nascimento type" EXACT []
synonym: "syndromic X-linked mental retardation 30" EXACT []
synonym: "syndromic X-linked mental retardation, Nascimento type" EXACT []
synonym: "X-linked intellectual disability-nail dystrophy-seizures syndrome" EXACT []
xref: MIM:300860
xref: NCI:C202069
xref: ORDO:163956
is_a: DOID:0060309 ! syndromic X-linked intellectual disability

[Term]
id: DOID:0060821
name: syndromic X-linked intellectual disability 14
alt_id: MIM:300676
def: "A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17704778 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22957832 "DO"]
synonym: "MRXS14" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder 14" EXACT []
synonym: "syndromic X-linked mental retardation 14" EXACT []
xref: MESH:C567063
xref: ORDO:323
xref: ORDO:776
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:0060822
name: syndromic X-linked intellectual disability Cabezas type
alt_id: MESH:C564527
alt_id: MIM:300354
def: "A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10978355 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17236139 "DO"]
synonym: "Cabezas syndrome" EXACT []
synonym: "Cabezas syndrome; syndromic X-linked mental retardation 15" EXACT []
synonym: "Cabezas X-Linked Mental Retardation Syndrome" EXACT []
synonym: "CUL4B-RELATED DISORDER" EXACT []
synonym: "mental retardation, X-linked, syndromic 15 (Cabezas type)" EXACT []
synonym: "MRSS" EXACT []
synonym: "MRXS15" EXACT []
synonym: "MRXSC" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Cabezas type" EXACT []
synonym: "syndromic X-linked mental retardation 15" EXACT []
synonym: "SYNDROMIC X-LINKED MENTAL RETARDATION, CABEZAS TYPE" EXACT []
synonym: "X-linked mental retardation with brachydactyly and macroglossia" EXACT []
synonym: "X-linked mental retardation with short stature" EXACT []
synonym: "X-linked mental retardation with short stature, hypogonadism, and abnormal gait" EXACT []
synonym: "X-linked mental retardation with short stature, small testes, muscle wasting, and tremor" EXACT []
xref: GARD:13244
xref: MESH:C567069
xref: NCI:C167216
xref: ORDO:85293
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:1924 ! hypogonadism
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:0060823
name: syndromic X-linked intellectual disability 94
alt_id: MIM:300699
def: "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17989220 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19449417 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24721225 "DO"]
synonym: "DISRUPTED SLEEP-WAKE CYCLE WITH DEVELOPMENTAL DELAY AND LEARNING DIFFICULTY" EXACT []
synonym: "GRIA3-RELATED CONDITION" EXACT []
synonym: "GRIA3-related disorder" BROAD []
synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC 29" EXACT []
synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE" EXACT []
synonym: "MRX94" EXACT []
synonym: "MRXS29" EXACT []
synonym: "MRXSW" EXACT []
synonym: "syndromic X-linked intellectual disability due to GRIA3 anomalies" EXACT []
synonym: "Wu-type X-linked syndromic intellectual developmental disorder" EXACT []
synonym: "X-linked mental retardation 94" EXACT []
xref: ICD10CM:F72
xref: MESH:C567479
xref: ORDO:364028
is_a: DOID:0060309 ! syndromic X-linked intellectual disability

[Term]
id: DOID:0060824
name: syndromic X-linked intellectual disability Raymond type
alt_id: DOID:9007880
alt_id: MESH:C567586
def: "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17436253 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19377476 "DO"]
synonym: "MRXSR" EXACT []
synonym: "syndromic X-linked mental retardation, Raymond type" EXACT []
synonym: "syndromic X-linked mental retardation, Zdhhc9-related" EXACT []
synonym: "X-linked syndromic intellectual developmental disorder Raymond type" EXACT []
xref: ICD10CM:Q87.8
xref: MIM:300799
xref: ORDO:163953
is_a: DOID:0060309 ! syndromic X-linked intellectual disability

[Term]
id: DOID:0060825
name: Christianson syndrome
alt_id: MESH:C537450
alt_id: MIM:300243
def: "A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18342287 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20949524 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25044251 "DO"]
synonym: "Angelman-Like Syndrome, X-Linked" EXACT []
synonym: "ANGELMAN SYNDROME-LIKE" EXACT []
synonym: "Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome" EXACT []
synonym: "MRXSCH" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Christianson type" EXACT []
synonym: "syndromic X-linked mental retardation, Christianson type" EXACT []
synonym: "X-linked intellectual deficit, South African type" EXACT []
synonym: "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" EXACT []
synonym: "X-linked intellectual disability, South African type" EXACT []
xref: GARD:10572
xref: MESH:C567484
xref: NCI:C181001
xref: ORDO:85278
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:10907 ! microcephaly
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:0060826
name: syndromic X-linked intellectual disability Shashi type
alt_id: MIM:300238
def: "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10677307 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25256757 "DO"]
synonym: "MRXS11" EXACT []
synonym: "MRXSSH" EXACT []
synonym: "orofaciodigital syndrome, Shashi type" EXACT []
synonym: "Shashi X-linked mental retardation syndrome" EXACT []
synonym: "SMRXS" EXACT []
synonym: "syndromic intellectual developmental disorder 11, Shashi type" EXACT []
synonym: "syndromic X-linked intellectual disability type 11" EXACT []
synonym: "syndromic X-linked mental retardation 11" EXACT []
synonym: "syndromic X-linked mental retardation 11, Shashi type" EXACT []
synonym: "X-linked mental retardation, Shashi type" EXACT []
xref: MESH:C537135
xref: ORDO:85286
is_a: DOID:0060309 ! syndromic X-linked intellectual disability

[Term]
id: DOID:0060827
name: X-linked intellectual disability-psychosis-macroorchidism syndrome
alt_id: DOID:9006524
alt_id: MIM:300055
def: "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10986043 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8651288 "DO"]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16" EXACT []
synonym: "Lindsay-Burn syndrome" EXACT []
synonym: "mental retardation with psychosis, pyramidal signs, and macroorchidism" EXACT []
synonym: "MRX16" EXACT []
synonym: "MRX79" EXACT []
synonym: "MRXS13" EXACT []
synonym: "PPM-X" EXACT []
synonym: "PPMX" EXACT []
synonym: "Ppm-X Syndrome" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder 13" EXACT []
synonym: "syndromic X-linked mental retardation 13" EXACT []
synonym: "X-linked mental retardation 16" EXACT []
synonym: "X-linked mental retardation 79" EXACT []
synonym: "X-linked mental retardation, with spasticity" EXACT []
xref: ICD10CM:F71.1
xref: MESH:C563139
xref: MESH:C564724
xref: MESH:C566876
xref: MESH:C566877
xref: ORDO:3077
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2468 ! psychotic disorder
is_a: DOID:9007428 ! Muscle Spasticity

[Term]
id: DOID:0060828
name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
def: "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22814392 "DO"]
synonym: "MRXS32" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder 32" EXACT []
synonym: "syndromic X-linked mental retardation 32" EXACT []
xref: MIM:300886
xref: ORDO:324410
is_a: DOID:0060309 ! syndromic X-linked intellectual disability

[Term]
id: DOID:0060830
name: deafness-intellectual disability, Martin-Probst type syndrome
alt_id: MIM:300519
def: "A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11073537 "DO"]
synonym: "Martin-Probst Deafness-Mental Retardation Syndrome" EXACT []
synonym: "Martin-Probst syndrome" EXACT []
synonym: "MRXSMP" EXACT []
synonym: "syndromic X-linked mental retardation, Martin-Probst type" EXACT []
xref: MESH:C564495
xref: ORDO:85321
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060831
name: Griscelli syndrome
def: "An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12452176 "DO", https://www.ncbi.nlm.nih.gov/pubmed/707528 "DO"]
synonym: "Chediak-Higashi-like syndrome" EXACT []
synonym: "Chédiak-Higashi-like syndrome" EXACT []
synonym: "Griscelli disease" EXACT []
synonym: "Griscelli-Prunieras syndrome" EXACT []
synonym: "Griscelli-Pruniéras syndrome" EXACT []
synonym: "partial albinism-immunodeficiency syndrome" EXACT []
xref: GARD:10913
xref: MIM:PS214450
xref: ORDO:381
is_a: DOID:0050120 ! hemophagocytic lymphohistiocytosis
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:3263 ! piebaldism
is_a: DOID:612 ! primary immunodeficiency disease
created_by: rgd
creation_date: 2017-01-26T00:00:00Z

[Term]
id: DOID:0060832
name: Griscelli syndrome type 1
alt_id: MIM:214450
def: "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12452176 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9207796 "DO"]
synonym: "Griscelli-Prunieras syndrome type 1" EXACT []
synonym: "Griscelli-Pruniéras syndrome type 1" EXACT []
synonym: "Griscelli syndrome, cutaneous and neurological type" EXACT []
synonym: "Griscelli syndrome, cutaneous and neurologic type" EXACT []
synonym: "Griscelli syndrome with neurological impairment" EXACT []
synonym: "Griscelli syndrome with neurologic impairment" EXACT []
synonym: "GS1" EXACT []
synonym: "hypopigmentation-neurologic impairment syndrome" EXACT []
synonym: "Partial albinism and primary neurologic disease without hemophagocytic syndrome" EXACT []
xref: GARD:2566
xref: MESH:C537301
xref: ORDO:79476
is_a: DOID:0060831 ! Griscelli syndrome

[Term]
id: DOID:0060833
name: Griscelli syndrome type 2
def: "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12452176 "DO", https://www.ncbi.nlm.nih.gov/pubmed/707528 "DO"]
synonym: "Griscelli-Prunieras syndrome type 2" EXACT []
synonym: "Griscelli-Pruniéras syndrome type 2" EXACT []
synonym: "Griscelli syndrome with hemophagocytic syndrome" EXACT []
synonym: "GS2" EXACT []
synonym: "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome" EXACT []
synonym: "PAID syndrome" EXACT []
synonym: "Partial albinism and immunodeficiency" EXACT []
synonym: "partial albinism and immunodeficiency syndrome" EXACT []
synonym: "partial albinism with immunodeficiency" EXACT []
xref: GARD:4483
xref: MESH:C537302
xref: MIM:607624
xref: MONDO:0011872
xref: NCI:C111814
xref: ORDO:79477
is_a: DOID:0060831 ! Griscelli syndrome

[Term]
id: DOID:0060834
name: Griscelli syndrome type 3
alt_id: MIM:609227
def: "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12148598 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12897212 "DO"]
synonym: "Griscelli-Prunieras syndrome type 3" EXACT []
synonym: "Griscelli-Pruniéras syndrome type 3" EXACT []
synonym: "GS3" EXACT []
synonym: "Hypomelanosis with no immunologic or neurologic manifestations" EXACT []
xref: GARD:9715
xref: MESH:C537303
xref: ORDO:79478
is_a: DOID:0060831 ! Griscelli syndrome

[Term]
id: DOID:0060835
name: isolated microphthalmia 6
def: "An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15823920 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21397065 "DO"]
synonym: "MCOP6" EXACT []
synonym: "posterior nonsyndromic microphthalmia" EXACT []
xref: MIM:613517
xref: ORDO:2542
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080637 ! isolated microphthalmia

[Term]
id: DOID:0060836
name: isolated microphthalmia 4
alt_id: MIM:613094
def: "An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19129173 "DO"]
synonym: "MCOP4" EXACT []
xref: MESH:C567757
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0080637 ! isolated microphthalmia

[Term]
id: DOID:0060837
name: isolated microphthalmia 5
alt_id: MIM:611040
def: "An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17167404 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18554571 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19753314 "DO"]
synonym: "MCOP5" EXACT []
synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT []
synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen" EXACT []
xref: ICD10CM:Q15.8
xref: MESH:C567024
xref: ORDO:251279
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080637 ! isolated microphthalmia
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:13561 ! optic disk drusen

[Term]
id: DOID:0060838
name: isolated microphthalmia 7
def: "An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19864492 "DO"]
synonym: "MCOP7" EXACT []
xref: ICD10CM:Q11.0
xref: MIM:613704
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080637 ! isolated microphthalmia

[Term]
id: DOID:0060839
name: isolated microphthalmia 2
alt_id: MIM:610093
def: "An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15257456 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3378363 "DO"]
synonym: "isolated clinical anophthalmia" EXACT []
synonym: "MCOP2" EXACT []
synonym: "VSX2-RELATED CONDITION" BROAD []
xref: MESH:C566446
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080637 ! isolated microphthalmia

[Term]
id: DOID:0060840
name: isolated microphthalmia 1
alt_id: MIM:251600
def: "An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9545413 "DO"]
synonym: "autosomal recessive microphthalmos" EXACT []
synonym: "isolated clinical anophthalmia" EXACT []
synonym: "MCOP" EXACT []
synonym: "MCOP1" EXACT []
xref: MESH:C565377
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080637 ! isolated microphthalmia

[Term]
id: DOID:0060841
name: isolated microphthalmia 8
def: "An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23312594 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23591992 "DO"]
synonym: "MCOP8" EXACT []
xref: MIM:615113
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080637 ! isolated microphthalmia

[Term]
id: DOID:0060842
name: isolated microphthalmia 3
alt_id: MIM:611038
def: "An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14662654 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18783408 "DO"]
synonym: "MCOP3" EXACT []
xref: MESH:C567025
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080637 ! isolated microphthalmia

[Term]
id: DOID:0060843
name: hereditary neuropathy with liability to pressure palsies
def: "A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12682341 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2540008 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8422677 "DO"]
synonym: "compression neuropathy" EXACT []
synonym: "current pressure-sensitive neuropathy" EXACT []
synonym: "familial pressure sensitive neuropathy" EXACT []
synonym: "familial recurrent polyneuropathy" EXACT []
synonym: "hereditary liability to pressure palsies" EXACT []
synonym: "hereditary neuropathy with liability to pressure palsy" EXACT []
synonym: "hereditary pressure sensitive neuropathy" EXACT []
synonym: "heterozygous microdeletion 17p11.2p12" EXACT []
synonym: "HNPP" EXACT []
synonym: "inherited tendency to pressure palsies" EXACT []
synonym: "potato-grubbing palsy" EXACT []
synonym: "tomaculous neuropathy" EXACT []
synonym: "tulip-bulb digger's palsy" EXACT []
xref: GARD:5221
xref: MESH:C536965
xref: MIM:162500
xref: MONDO:0008087
xref: ORDO:640
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:2477 ! motor peripheral neuropathy

[Term]
id: DOID:0060844
name: Norrie disease
def: "A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1303235 "DO", https://www.ncbi.nlm.nih.gov/pubmed/13998843 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7627181 "DO"]
synonym: "Anderson-Warburg syndrome" EXACT []
synonym: "atrophia bulborum hereditaria" EXACT []
synonym: "Congenital Progressive Oculo-Acoustico-Cerebral Degeneration" EXACT []
synonym: "Episkopi blindness" EXACT []
synonym: "Fetal Iritis Syndrome" EXACT []
synonym: "ND" EXACT []
synonym: "Norrie's disease" EXACT []
synonym: "Norrie syndrome" EXACT []
synonym: "Norrie-Warburg disease" EXACT []
synonym: "Norrie-Warburg syndrome" EXACT []
synonym: "Oligophrenia Microphthalmus" EXACT []
synonym: "pseudoglioma" EXACT []
synonym: "pseudoglioma congenita" EXACT []
synonym: "Whitnall-Norman syndrome" EXACT []
xref: GARD:7224
xref: MESH:C537849
xref: MIM:310600
xref: MONDO:0010691
xref: NCI:C118634
xref: ORDO:649
is_a: DOID:0050562 ! West syndrome
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1432 ! blindness
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:0060847
name: Leri-Weill dyschondrosteosis
alt_id: MIM:127300
def: "An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. (DO)" [https://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10713888 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21712857 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9590292 "DO"]
synonym: "DCO MADELUNG DEFORMITY" NARROW []
synonym: "DYSCHONDROSTEOSIS" NARROW []
synonym: "Leri-Weil syndrome" EXACT []
synonym: "LWD" EXACT []
synonym: "Léri-Weill dyschondrosteosis" EXACT []
xref: GARD:3224
xref: MESH:C537119
xref: NCI:C126560
xref: ORDO:240
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:0060848
name: developmental and epileptic encephalopathy 9
alt_id: MIM:300088
def: "A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20830798/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/18469813 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19752159 "DO"]
synonym: "convulsive disorder and mental retardation" EXACT []
synonym: "DEE9" EXACT []
synonym: "early infantile epileptic encephalopathy 9" EXACT []
synonym: "early infantile female-limited epilecptic encephalopathy" EXACT []
synonym: "EFMR" EXACT []
synonym: "EIEE9" EXACT []
synonym: "female-restricted epilepsy with mental retardation" EXACT []
synonym: "Juberg-Hellman syndrome" EXACT []
xref: GARD:10806
xref: MESH:C564715
xref: NCI:C201590
xref: ORDO:101039
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:1059 ! intellectual disability

[Term]
id: DOID:0060849
name: osteoporosis-pseudoglioma syndrome
alt_id: MIM:259770
def: "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11719191 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20034086 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3955877 "DO"]
synonym: "ocular form of osteogenesis imperfecta" EXACT []
synonym: "OPPG" EXACT []
synonym: "OPS" EXACT []
synonym: "osteogenesis imperfecta, ocular form" EXACT []
synonym: "osteoporosis with pseudoglioma" EXACT []
synonym: "pseudoglioma with bone fragility" EXACT []
xref: GARD:4160
xref: MESH:C536063
xref: NCI:C130998
xref: ORDO:2788
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0060850
name: annular pancreas
def: "A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1860255 "DO", https://www.ncbi.nlm.nih.gov/pubmed/677171 "DO"]
xref: GARD:705
xref: ICD10CM:Q45.1
xref: MESH:C536376
xref: MIM:167750
xref: MONDO:0008183
xref: NCI:C98813
xref: ORDO:675
is_a: DOID:26 ! pancreas disease

[Term]
id: DOID:0060851
name: pemphigus vulgaris
alt_id: MIM:169610
def: "A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2217197 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4577497 "DO"]
synonym: "familial pemphigus vulgaris" EXACT []
xref: EFO:0004719
xref: GARD:7355
xref: ICD10CM:L10.0
xref: MESH:C536645
xref: NCI:C34910
xref: ORDO:704
is_a: DOID:9182 ! pemphigus

[Term]
id: DOID:0060852
name: Pierson syndrome
alt_id: MIM:609049
def: "A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15367484 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15372515 "DO"]
synonym: "congenital nephrotic syndrome with ocular abnormalities and congenital myasthenic syndrome" EXACT []
synonym: "microcoria and congenital nephrotic syndrome" EXACT []
synonym: "microcoria-congenital nephrosis syndrome" EXACT []
synonym: "microcoria-congenital nephrotic syndrome" EXACT []
xref: GARD:9420
xref: MESH:C537185
xref: NCI:C128145
xref: ORDO:2670
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1184 ! nephrotic syndrome
is_a: DOID:238 ! pupil disease
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:0060853
name: Potocki-Lupski syndrome
def: "A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10615134 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20425816 "DO"]
synonym: "17p11.2 microduplication syndrome" EXACT []
synonym: "chromosome 17p11.2 duplication syndrome" EXACT []
synonym: "chromosome 17, trisomy 17p11 2" EXACT []
synonym: "duplication 17p11.2 syndrome" EXACT []
synonym: "duplication 17p11 2" EXACT []
synonym: "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))" EXACT []
synonym: "PTLS" EXACT []
synonym: "trisomy 17p11.2" EXACT []
xref: GARD:10145
xref: MESH:C538355
xref: MIM:610883
xref: MONDO:0012574
xref: NCI:C124846
xref: ORDO:1713
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060854
name: autosomal recessive pseudohypoaldosteronism type 1
def: "A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10202170 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10404817 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8589714 "DO"]
synonym: "autosomal recessive PHA 1" EXACT []
synonym: "autosomal recessive pseudohypoaldosteronism type I" EXACT []
synonym: "PHA1B" EXACT []
synonym: "recessive pseudohypoaldosteronism type I" EXACT []
xref: GARD:4552
xref: NCI:C123251
xref: ORDO:171876
xref: ORDO:756
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4479 ! pseudohypoaldosteronism
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060855
name: autosomal dominant pseudohypoaldosteronism type 1
alt_id: RDO:9003076
def: "A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9662404 "DO"]
synonym: "autosomal dominant PHA 1" EXACT []
synonym: "PHA1A" EXACT []
synonym: "pseudohypoaldosteronism, type I, autosomal dominant" EXACT []
synonym: "pseudohypoaldosteronism, type I, dominant" EXACT []
xref: GARD:9145
xref: MIM:177735
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4479 ! pseudohypoaldosteronism
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0060856
name: right atrial isomerism
def: "A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14648004 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20413652 "DO"]
synonym: "asplenia with cardiovascular anomalies" RELATED []
synonym: "Ivemark syndrome" EXACT []
synonym: "right atrial isomerisms" EXACT []
synonym: "right atrial isomerism with asplenia" EXACT []
xref: GARD:6795
xref: ICD10CM:Q20.6
xref: ORDO:97548
is_a: DOID:0050545 ! visceral heterotaxy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0060857
name: septooptic dysplasia
alt_id: MIM:182230
def: "A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8696006 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9620767 "DO"]
synonym: "De Morsier syndrome" EXACT []
synonym: "septo-optic dysplasia" EXACT []
synonym: "septooptic dysplasia, mild" NARROW []
synonym: "septooptic dysplasias" EXACT []
synonym: "septo-optic dysplasia sequence" EXACT []
synonym: "septo optic dysplasia with growth hormone deficiency" EXACT []
synonym: "SOD" EXACT []
xref: GARD:7627
xref: MESH:D025962
xref: NCI:C85063
xref: ORDO:3157
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006534 ! Nervous System Malformations

[Term]
id: DOID:0060858
name: hypotonia-cystinuria syndrome
alt_id: MIM:606407
def: "A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. (DO)" [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163690 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11524703 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16385448 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18234729 "DO"]
synonym: "cystinuria with mitochondrial disease" EXACT []
synonym: "HOMOZYGOUS 2p16 DELETION SYNDROME" NARROW []
synonym: "HOMOZYGOUS 2p21 DELETION SYNDROME" NARROW []
xref: ICD10CM:E72.0
xref: MESH:C564710
xref: ORDO:163690
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:9266 ! cystinuria

[Term]
id: DOID:0060859
name: salmonellosis
def: "A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. (DO)" [https://www.cdc.gov/salmonella/general/index.html "DO", https://www.foodsafety.gov/poisoning/causes/bacteriaviruses/salmonella "DO"]
synonym: "salmonella infection" EXACT []
synonym: "salmonella infections" EXACT []
synonym: "salmonelloses" EXACT []
xref: EFO:1001418
xref: ICD10CM:A02.0
xref: ICD9CM:003.0
xref: MESH:D012480
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9003491 ! Enterobacteriaceae Infections

[Term]
id: DOID:0060861
name: microphthalmia with limb anomalies
alt_id: MIM:206920
def: "A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21194678 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6846395 "DO"]
synonym: "anophthalmia-syndactyly" EXACT []
synonym: "anophthalmia-syndactyly syndrome" EXACT []
synonym: "anophthalmia Waardenburg syndrome" EXACT []
synonym: "Anophthalmos-syndactyly" EXACT []
synonym: "anophthalmos with limb anomalies" EXACT []
synonym: "MLA" EXACT []
synonym: "OAS" EXACT []
synonym: "ophthalmoacromelic syndrome" EXACT []
xref: MESH:C537769
xref: ORDO:1106
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9258 ! Waardenburg syndrome

[Term]
id: DOID:0060862
name: mal de Meleda
alt_id: DOID:9006003
def: "A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11285253 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9887370 "DO"]
synonym: "HEREDITARY PALMOPLANTAR KERATODERMA, GAMBORG-NIELSEN TYPE" EXACT []
synonym: "keratosis palmoplantaris transgrediens of Siemens" EXACT []
synonym: "MDM" EXACT []
synonym: "Meleda disease" EXACT []
synonym: "palmoplantar keratoderma, Gamborg Nielsen type" EXACT []
synonym: "palmoplantar keratoderma, Norrbotten recessive type" EXACT []
synonym: "palmoplantar keratoderma, Norrbotten type" EXACT []
synonym: "PPK, Gamborg-Nielsen type" EXACT []
synonym: "PPKGN" EXACT []
synonym: "PPKNR" EXACT []
synonym: "transgrediens palmoplantar keratoderma of Siemens" EXACT []
xref: GARD:92
xref: ICD10CM:Q82.8
xref: MESH:C565454
xref: MIM:248300
xref: MONDO:0009552
xref: ORDO:86923
xref: ORDO:87503
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3390 ! palmoplantar keratosis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0060863
name: patterned macular dystrophy
alt_id: RDO:0001837
def: "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22466463 "DO"]
synonym: "butterfly dystrophy of retinal pigment epithelium" EXACT []
synonym: "butterfly-shaped pigmentary macular dystrophy" EXACT []
synonym: "butterfly-shaped pigment dystrophy of the fovea" EXACT []
synonym: "patterned dystrophy of retinal pigment epithelium" EXACT []
xref: MESH:C536309
xref: MIM:PS169150
xref: ORDO:99001
is_a: DOID:14252 ! dystrophies primarily involving the retinal pigment epithelium
is_a: DOID:4448 ! macular degeneration

[Term]
id: DOID:0060864
name: patterned macular dystrophy 2
alt_id: RDO:9004328
def: "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12724643 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26691986 "DO"]
synonym: "butterfly-shaped pigmentary macular dystrophy 2" EXACT []
synonym: "butterfly-shaped pigmentary maculary dystrophy 2" EXACT []
synonym: "MDPT2" EXACT []
xref: MIM:608970
is_a: DOID:0060863 ! patterned macular dystrophy
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0060865
name: patterned macular dystrophy 3
def: "A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26744326 "DO"]
synonym: "MAPKAPK3-RELATED CONDITION" EXACT []
synonym: "MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY" EXACT []
synonym: "MDPT3" EXACT []
xref: MIM:617111
is_a: DOID:0060863 ! patterned macular dystrophy
created_by: rgd
creation_date: 2017-05-04T00:00:00Z

[Term]
id: DOID:0060866
name: patterned macular dystrophy 1
alt_id: RDO:9004327
def: "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8251014 "DO"]
synonym: "butterfly-shaped pigmentary maculary dystrophy 1" EXACT []
synonym: "MDPT1" EXACT []
xref: MIM:169150
is_a: DOID:0060863 ! patterned macular dystrophy
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0060867
name: macrocephaly-autism syndrome
alt_id: MIM:605309
def: "A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15805158 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1719811 "DO"]
synonym: "autism spectrum disorder (ASD) with macrocephaly" EXACT []
synonym: "autism spectrum disorder and macrocephaly" EXACT []
synonym: "macrocephaly-intellectual disability-autism syndrome" EXACT []
xref: MESH:C565342
xref: ORDO:210548
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12849 ! autistic disorder
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9003816 ! Macrocephaly

[Term]
id: DOID:0060868
name: leukoencephalopathy with vanishing white matter
def: "A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. (DO)" [https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter/ "DO", https://pubmed.ncbi.nlm.nih.gov/11835386/ "DO", https://pubmed.ncbi.nlm.nih.gov/15136673/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/11704758 "DO"]
synonym: "CACH" EXACT []
synonym: "CACH/VWM" EXACT []
synonym: "childhood ataxia with central nervous system hypomyelination" EXACT []
synonym: "childhood ataxia with central nervous system hypomyelinization" EXACT []
synonym: "ovarioleukodystrophy" NARROW []
synonym: "vanishing white matter leukodystrophy" EXACT []
synonym: "vanishing white matter leukodystrophy with ovarian failure" EXACT []
synonym: "VWM" EXACT []
xref: GARD:231
xref: MESH:C565836
xref: MIM:PS603896
xref: NCI:C122664
xref: ORDO:135
xref: ORDO:157713
xref: ORDO:157716
xref: ORDO:157719
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:1100 ! ovarian disease
is_a: DOID:9002704 ! Leukoencephalopathies

[Term]
id: DOID:0060869
name: late-onset retinal degeneration
alt_id: MIM:605670
def: "A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12944416 "DO"]
synonym: "late-onset retinal degeneration, autosomal dominant" EXACT []
synonym: "LORD" EXACT []
xref: GARD:4357
xref: MESH:C565309
xref: NCI:C202070
xref: ORDO:67042
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:0060870
name: isolated growth hormone deficiency
alt_id: OMIA:000307
def: "A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO"]
synonym: "congenital IGHD" EXACT []
synonym: "congenital isolated GH deficiency" EXACT []
synonym: "congenital isolated growth hormone deficiency" EXACT []
synonym: "familial isolated growth hormone deficiency" EXACT []
synonym: "GROWTH HORMONE DEFICIENCY" BROAD []
synonym: "Growth Hormone Deficiency Dwarfism" EXACT []
synonym: "Hypophysial Dwarf" EXACT []
synonym: "Hyposomatotrophic Dwarfism" EXACT []
synonym: "IGHD" EXACT []
synonym: "Isolated GH Deficiency" EXACT []
synonym: "Isolated HGH Deficiency" EXACT []
synonym: "Isolated Human Growth Hormone Deficiency" EXACT []
synonym: "Isolated Somatotropin Deficiency" EXACT []
synonym: "Isolated Somatotropin Deficiency Disorder" EXACT []
synonym: "non-acquired isolated growth hormone deficiency" EXACT []
synonym: "Pituitary Dwarf" EXACT []
synonym: "pituitary dwarfism" EXACT []
synonym: "pituitary nanism" EXACT []
xref: EFO:1001109
xref: GARD:12556
xref: ICD9CM:253.3
xref: MESH:D004393
xref: MIM:PS262400
xref: NCI:C34555
xref: ORDO:631
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9007819 ! Endocrine Bone Diseases
is_a: DOID:9406 ! hypopituitarism

[Term]
id: DOID:0060871
name: autosomal dominant keratitis-ichthyosis-deafness syndrome
def: "A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11912510 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11918723 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3579358 "DO"]
synonym: "autosomal dominant KID syndrome" EXACT []
synonym: "keratitis, ichthyosis, and deafness (KID) syndrome" EXACT []
synonym: "KID syndrome" EXACT []
xref: ICD10CM:Q80.8
xref: MESH:C536168
xref: MIM:148210
xref: MONDO:0007850
xref: ORDO:477
is_a: DOID:0111383 ! autosomal dominant keratitis
is_a: DOID:9005709 ! Keratitis-Ichthyosis-Deafness Syndrome

[Term]
id: DOID:0060872
name: isolated growth hormone deficiency type II
alt_id: MIM:173100
def: "An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15671105 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO"]
synonym: "congenital IGHD type II" EXACT []
synonym: "congenital isolated GH deficiency type II" EXACT []
synonym: "congenital isolated growth hormone deficiency type II" EXACT []
synonym: "IGHD2" EXACT []
synonym: "IGHD II" EXACT []
synonym: "isolated growth hormone deficiency, autosomal dominant" EXACT []
synonym: "Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant" EXACT []
xref: MESH:C562704
xref: ORDO:231679
is_a: DOID:0060870 ! isolated growth hormone deficiency

[Term]
id: DOID:0060873
name: isolated growth hormone deficiency type IA
def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16060904 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO"]
synonym: "IGHD1A" EXACT []
synonym: "IGHD IA" EXACT []
synonym: "ILLIG-TYPE GROWTH HORMONE DEFICIENCY" EXACT []
synonym: "isolated growth hormone deficiency, autosomal recessive" EXACT []
synonym: "Isolated growth hormone deficiency, type 1b" EXACT []
synonym: "nanism due to growth hormone isolated deficiency" EXACT []
synonym: "Pituitary Dwarfism 1" EXACT []
synonym: "Pituitary Dwarfism I" EXACT []
synonym: "PRIMORDIAL DWARFISM" EXACT []
synonym: "sexual ateleiotic dwarfism" EXACT []
xref: MESH:C537404
xref: MIM:262400
xref: MONDO:0009876
xref: ORDO:231662
is_a: DOID:0060870 ! isolated growth hormone deficiency

[Term]
id: DOID:0060874
name: isolated growth hormone deficiency type IB
def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10678654 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8528260 "DO"]
synonym: "congenital IGHD type IB" EXACT []
synonym: "congenital isolated GH deficiency type IB" EXACT []
synonym: "congenital isolated growth hormone deficiency type IB" EXACT []
synonym: "dwarfism of Sindh" EXACT []
synonym: "idiopathic growth hormone deficiency" EXACT []
synonym: "IGHD1B" EXACT []
synonym: "IGHD IB" EXACT []
xref: MESH:C567564
xref: MIM:612781
xref: MIM:618157
xref: MONDO:0013006
xref: ORDO:231671
is_a: DOID:0060870 ! isolated growth hormone deficiency
is_a: DOID:53 ! pituitary gland disease

[Term]
id: DOID:0060875
name: isolated growth hormone deficiency type III
alt_id: MIM:307200
alt_id: RDO:0002930
def: "An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8013627 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO"]
synonym: "Agammaglobulinemia and isolated growth hormone deficiency, X-linked" EXACT []
synonym: "congenital IGHD type III" EXACT []
synonym: "congenital isolated GH deficiency type III" EXACT []
synonym: "congenital isolated growth hormone deficiency type III" EXACT []
synonym: "Fleisher syndrome" EXACT []
synonym: "Growth Hormone Deficiency with Hypogammaglobulinemia" EXACT []
synonym: "Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked" EXACT []
synonym: "IGHD3" EXACT []
synonym: "IGHD III" EXACT []
synonym: "Isolated growth hormone deficiency, type 3" EXACT []
synonym: "Nanism due to growth hormone isolated deficiency with X-linked hypogammaglobulinemia" EXACT []
synonym: "X-LINKED AGAMMAGLOBULINEMIA WITH GROWTH HORMONE DEFICIENCY" EXACT []
synonym: "X-linked IGHD" EXACT []
synonym: "X-linked isolated growth hormone deficiency" EXACT []
xref: GARD:3921
xref: MESH:C537149
xref: ORDO:231692
is_a: DOID:0060870 ! isolated growth hormone deficiency
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:2583 ! agammaglobulinemia

[Term]
id: DOID:0060877
name: bullous congenital ichthyosiform erythroderma
alt_id: MIM:146800
def: "An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4247927 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7524919 "DO"]
synonym: "bullous type ichthyoses" EXACT []
synonym: "bullous type ichthyosis" EXACT []
synonym: "bullous type ichthyosis of Siemens" EXACT []
synonym: "bullous type of ichthyosis" EXACT []
synonym: "IBS" EXACT []
synonym: "ichthyosis bullosa of Siemens" EXACT []
synonym: "ichthyosis exfoliativa" NARROW []
synonym: "KRT2-RELATED CONDITION" EXACT []
synonym: "Siemens ichthyosis bullosa" EXACT []
synonym: "superficial epidermolytic ichthyosis" EXACT []
xref: GARD:2966
xref: MESH:D053560
xref: NCI:C84777
xref: ORDO:455
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1697 ! ichthyosis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0060878
name: hypoparathyroidism-deafness-renal disease syndrome
alt_id: MIM:146255
def: "A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10935639 "DO", https://www.ncbi.nlm.nih.gov/pubmed/874665 "DO"]
synonym: "Barakat syndrome" EXACT []
synonym: "GATA3-RELATED CONDITION" EXACT []
synonym: "HDR" EXACT []
synonym: "HDRS" EXACT []
synonym: "HDR syndrome" EXACT []
synonym: "hypoparathyroidism, sensorineural deafness, and renal disease" EXACT []
synonym: "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome" EXACT []
synonym: "nephrosis, nerve deafness, and hypoparathyroidism" EXACT []
xref: MESH:C537907
xref: NCI:C130983
xref: ORDO:2237
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:11199 ! hypoparathyroidism
is_a: DOID:2527 ! nephrosis

[Term]
id: DOID:0060879
name: primary hypomagnesemia
alt_id: MESH:C537153
def: "A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18818955 "DO"]
synonym: "defect in renal tubular transport of magnesium" NARROW []
synonym: "familial hypomagnesemia with hypercalciuria and nephrocalcinosis" EXACT []
synonym: "HOMG" EXACT []
synonym: "hypomagnesemia" BROAD []
synonym: "HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS  HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING" NARROW []
synonym: "isolated renal hypomagnesemia" NARROW []
synonym: "magnesium deficiencies" EXACT []
synonym: "magnesium deficiency" EXACT []
synonym: "primary familial hypomagnesemia" EXACT []
synonym: "primary hypomagnesemia due to defect in renal tubular transport of magnesium" NARROW []
xref: EFO:1001029
xref: MESH:D008275
xref: MIM:PS602014
xref: ORDO:34526
is_a: DOID:5113 ! nutritional deficiency disease
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:0060880
name: renal hypomagnesemia 3
def: "A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10390358 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16501001 "DO"]
synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" EXACT []
synonym: "FHHNC without severe ocular involvement" EXACT []
synonym: "HOMG3" EXACT []
synonym: "primary hypomagnesemia due to defect in renal tubular transport of magnesium" EXACT []
synonym: "renal hypomagnesemia, recessive" RELATED []
synonym: "renal hypomagnesemia type 3" EXACT []
xref: GARD:2906
xref: MIM:248250
xref: MONDO:0009550
xref: ORDO:31043
is_a: DOID:0060879 ! primary hypomagnesemia
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0060881
name: renal hypomagnesemia 5 with ocular involvement
def: "A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17033971 "DO"]
synonym: "bilateral macular coloboma with hypercalciuria" EXACT []
synonym: "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement" EXACT []
synonym: "FHHNC with severe ocular involvement" EXACT []
synonym: "HOMG5" EXACT []
synonym: "hypercalciuria-bilateral macular coloboma syndrome" EXACT []
synonym: "Idiopathic hypercalciuria with bilateral macular colobomata" EXACT []
synonym: "Meier-Blumberg-Imahorn syndrome" EXACT []
synonym: "renal hypomagnesemia, recessive" RELATED []
synonym: "renal hypomagnesemia with ocular involvement" EXACT []
xref: MESH:C536148
xref: MESH:C565423
xref: MIM:248190
xref: MONDO:0009548
xref: ORDO:2196
is_a: DOID:0060879 ! primary hypomagnesemia
is_a: DOID:1056 ! oculocerebrorenal syndrome
is_a: DOID:10575 ! calcium metabolism disease
is_a: DOID:447 ! renal tubular transport disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0060882
name: renal hypomagnesemia 4
def: "A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12584272 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17671655 "DO"]
synonym: "HOMG4" EXACT []
synonym: "normocalciuric renal hypomagnesemia" EXACT []
synonym: "renal hypomagnesemia, recessive" RELATED []
xref: MESH:C567127
xref: MIM:611718
xref: MONDO:0012717
xref: ORDO:34527
is_a: DOID:0060879 ! primary hypomagnesemia
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:0060883
name: intestinal hypomagnesemia 1
def: "A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12032568 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12032570 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18818955 "DO"]
synonym: "HOMG1" EXACT []
synonym: "HSH" EXACT []
synonym: "hypomagnesemia caused by selective magnesium malabsorption" EXACT []
synonym: "hypomagnesemia intestinal type 1" EXACT []
synonym: "Hypomagnesemia with Secondary Hypocalcemia" EXACT []
synonym: "HYPOMAGNESEMIC TETANY" EXACT []
synonym: "intestinal hypomagnesemia with secondary hypocalcemia" EXACT []
synonym: "primary hypomagnesemia with secondary hypocalcemia" EXACT []
xref: MESH:C566593
xref: MIM:602014
xref: MONDO:0011176
xref: ORDO:30924
is_a: DOID:0060879 ! primary hypomagnesemia
is_a: DOID:9009050 ! Hypocalcemia

[Term]
id: DOID:0060884
name: renal hypomagnesemia 6
def: "A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21397062 "DO"]
synonym: "HOMG6" EXACT []
synonym: "renal hypomagnesemia, dominant" BROAD []
xref: GARD:12155
xref: ICD10CM:E83.4
xref: MIM:613882
xref: MONDO:0013480
is_a: DOID:0060879 ! primary hypomagnesemia
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:0060885
name: renal hypomagnesemia 2
alt_id: MIM:154020
def: "A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11062458 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3298795 "DO"]
synonym: "autosomal dominant primary hypomagnesemia with hypocalciuria" EXACT []
synonym: "HOMG2" EXACT []
synonym: "magnesium loss, isolated renal" EXACT []
synonym: "magnesium wasting, renal" EXACT []
synonym: "renal hypomagnesemia, dominant" BROAD []
xref: GARD:3350
xref: MESH:C537152
xref: ORDO:34528
is_a: DOID:0060879 ! primary hypomagnesemia
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:0060886
name: osteopathia striata with cranial sclerosis
alt_id: MIM:300373
def: "An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19079258 "DO"]
synonym: "AMER1-RELATED CONDITION" EXACT []
synonym: "hyperostosis generalisata with striations" EXACT []
synonym: "OSCS" EXACT []
synonym: "osteopathia striata cranial sclerosis" EXACT []
synonym: "Robinow-Unger syndrome" EXACT []
xref: MESH:C536053
xref: ORDO:2780
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:0060887
name: ossification of the posterior longitudinal ligament of spine
alt_id: MIM:602475
def: "A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27374772 "DO"]
synonym: "OPLL" EXACT []
xref: EFO:0005895
xref: GARD:9699
xref: MESH:C537143
is_a: DOID:9003781 ! Ossification of Posterior Longitudinal Ligament

[Term]
id: DOID:0060888
name: transient myeloproliferative syndrome
alt_id: MIM:159595
def: "A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/792759 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6229618 "DO"]
synonym: "MST" EXACT []
synonym: "TAM" EXACT []
synonym: "transient abnormal myelopoiesis" EXACT []
synonym: "transient leukemia" EXACT []
synonym: "transient leukemia of Down syndrome" EXACT []
synonym: "transient myeloproliferative disease" EXACT []
synonym: "transient myeloproliferative disorder of Down syndrome" EXACT []
xref: GARD:12765
xref: ICD10CM:D47.7
xref: MESH:C563551
xref: MESH:C566024
xref: ORDO:420611
is_a: DOID:14250 ! Down syndrome
is_a: DOID:2226 ! myeloproliferative neoplasm
is_a: DOID:9000933 ! Leukemoid Reaction

[Term]
id: DOID:0060889
name: prune belly syndrome
alt_id: MIM:100100
def: "A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. (DO)" [https://en.wikipedia.org/wiki/Prune_belly_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15912376 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22077972 "DO"]
synonym: "abdominal muscle deficiency syndrome" EXACT []
synonym: "absence of abdominal muscles with urinary tract abnormality and cryptorchidism" EXACT []
synonym: "congenital absence of the abdominal muscles" EXACT []
synonym: "Eagle-Barret syndrome" EXACT []
synonym: "Eagle Barrett syndrome" EXACT []
synonym: "EGBRS" EXACT []
synonym: "Obrinsky syndrome" EXACT []
synonym: "Obrisnksy syndrome" EXACT []
synonym: "PBS" EXACT []
synonym: "prune belly syndromes" EXACT []
xref: GARD:7479
xref: ICD10CM:Q79.4
xref: MESH:D011535
xref: NCI:C85033
xref: ORDO:2970
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0060890
name: ectopic Cushing syndrome
def: "A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27387249 "DO"]
synonym: "Cushing syndrome due to ectopic ACTH secretion" EXACT []
synonym: "ectopic ACTH secreting tumor" EXACT []
xref: ICD10CM:E24.3
xref: ORDO:99889
xref: RDO:9003140
is_a: DOID:446 ! primary hyperaldosteronism
is_a: DOID:9005158 ! Cushing Syndrome
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0060891
name: Parkinson's disease 19A
def: "An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22563501 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23211418 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26703368 "DO"]
synonym: "juvenile onset Parkinson's disease 19A" EXACT []
synonym: "juvenile onset Parkinson disease 19A" EXACT []
synonym: "PARK19" NARROW []
synonym: "PARK19A" EXACT []
synonym: "PARK19B" NARROW []
synonym: "Parkinson's disease 19B, early-onset" NARROW []
synonym: "Parkinson's disease 19, juvenile-onset" EXACT []
synonym: "Parkinson disease 19B, early-onset" NARROW []
synonym: "Parkinson disease 19, juvenile-onset" EXACT []
xref: MIM:615528
xref: NCI:C198608
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060894 ! early-onset Parkinson's disease

[Term]
id: DOID:0060892
name: late onset Parkinson's disease
def: "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25904081 "DO"]
synonym: "late onset Parkinson disease" EXACT []
synonym: "late onset Parkinson disease, hereditary" EXACT []
synonym: "PARK" NARROW []
synonym: "PARK18" NARROW []
synonym: "PARK24" NARROW []
synonym: "Parkinson's disease 18, autosomal dominant, susceptibility to" RELATED []
synonym: "Parkinson's disease, late-onset, susceptibility to" RELATED []
synonym: "Parkinson disease 18, autosomal dominant, susceptibility to" RELATED []
synonym: "Parkinson disease 24, autosomal dominant, susceptibility to" RELATED []
synonym: "Parkinson disease, late-onset, susceptibility to" RELATED []
synonym: "PD" EXACT []
xref: MIM:168600
xref: MIM:614251
xref: MIM:619491
xref: MONDO:0008199
xref: ORDO:411602
is_a: DOID:14330 ! Parkinson's disease

[Term]
id: DOID:0060893
name: juvenile-onset Parkinson's disease
def: "An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25904081 "DO"]
synonym: "juvenile-onset Parkinson disease" EXACT []
is_a: DOID:0060894 ! early-onset Parkinson's disease
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:0060894
name: early-onset Parkinson's disease
def: "A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25904081 "DO"]
synonym: "early-onset Parkinson disease" EXACT []
synonym: "Young-onset Parkinson disease" EXACT []
xref: MONDO:0017279
xref: ORDO:2828
xref: ORDO:391411
is_a: DOID:14330 ! Parkinson's disease
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:0060895
name: Parkinson's disease 4
alt_id: MIM:605543
def: "A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14755720 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17251522 "DO"]
synonym: "autosomal dominant Lewy body Parkinson's disease 4" EXACT []
synonym: "autosomal dominant Lewy body Parkinson disease 4" EXACT []
synonym: "autosomal dominant Parkinson's disease 4" EXACT []
synonym: "autosomal dominant Parkinson disease 4" EXACT []
synonym: "PARK4" EXACT []
xref: MESH:C565324
xref: NCI:C198604
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060892 ! late onset Parkinson's disease
is_a: DOID:12217 ! Lewy body dementia

[Term]
id: DOID:0060896
name: Parkinson's disease 23
def: "An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26942284 "DO"]
synonym: "autosomal recessive early-onset Parkinson's disease 23" EXACT []
synonym: "autosomal recessive early-onset Parkinson disease 23" EXACT []
synonym: "PARK23" EXACT []
xref: ICD10CM:G20
xref: MIM:616840
xref: MONDO:0014796
xref: NCI:C203536
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060894 ! early-onset Parkinson's disease

[Term]
id: DOID:0060897
name: Parkinson's disease 17
def: "A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21763483 "DO"]
synonym: "autosomal dominant Parkinson disease 17" EXACT []
synonym: "PARK17" EXACT []
synonym: "Parkinson disease 17" EXACT []
xref: MIM:614203
xref: MONDO:0013625
xref: NCI:C201520
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060892 ! late onset Parkinson's disease

[Term]
id: DOID:0060898
name: Parkinson's disease 20
alt_id: RDO:9000983
def: "An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23804563 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23804577 "DO"]
synonym: "early-onset Parkinson's disease 20" EXACT []
synonym: "early-onset Parkinson disease 20" EXACT []
synonym: "PARK20" EXACT []
xref: MIM:615530
xref: NCI:C203535
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060894 ! early-onset Parkinson's disease

[Term]
id: DOID:0060900
name: Parkinson's disease 14
def: "A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18570303 "DO"]
synonym: "adult-onset dystonia-parkinsonism" BROAD []
synonym: "autosomal recessive Parkinson's disease 14" EXACT []
synonym: "autosomal recessive Parkinson disease 14" EXACT []
synonym: "PARK14" EXACT []
xref: MESH:C567844
xref: MIM:612953
xref: MONDO:0013060
xref: NCI:C201519
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060892 ! late onset Parkinson's disease
is_a: DOID:543 ! dystonia

[Term]
id: DOID:0060901
name: lymphoplasmacytic lymphoma
alt_id: DOID:0050747
alt_id: MIM:153600
alt_id: MIM:610430
def: "A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10632755 "DO"]
synonym: "familial Waldenstrom's macroglobulinaemia" EXACT []
synonym: "familial Waldenstrom macroglobulinaemia" EXACT []
synonym: "familial Waldenstrom macroglobulinemia" EXACT []
synonym: "familial Waldenstroms macroglobulinaemia" EXACT []
synonym: "immunocytoma" EXACT []
synonym: "lymphoplasmacytic lymphoma with IgM gammopathy" EXACT []
synonym: "Waldenstroem's macroglobulinemia" EXACT []
synonym: "Waldenstrom's Macroglobulinaemia" EXACT []
synonym: "Waldenstrom's macroglobulinemia" EXACT []
synonym: "Waldenstrom Macroglobulinaemia" EXACT []
synonym: "Waldenstrom macroglobulinemia" EXACT []
synonym: "Waldenstrom macroglobulinemia, somatic" RELATED []
synonym: "Waldenstrom macroglobulinemia, susceptibility to, 1" RELATED []
synonym: "Waldenstrom macroglobulinemia, susceptibility to, 2" RELATED []
synonym: "Waldenstroms macroglobulinaemia" EXACT []
synonym: "Waldenstroms macroglobulinemia" EXACT []
synonym: "WM1" RELATED []
synonym: "WM2" RELATED []
xref: EFO:0009441
xref: GARD:7872
xref: ICD10CM:C88.0
xref: ICD9CM:273.3
xref: ICDO:9671/3
xref: MESH:D008258
xref: MIM:PS153600
xref: NCI:C115212
xref: NCI:C3212
xref: NCI:C80307
xref: ORDO:33226
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:484 ! vascular hemostatic disease
is_a: DOID:6536 ! plasma cell neoplasm
is_a: DOID:707 ! B-cell lymphoma
is_a: DOID:9003571 ! Paraproteinemias
is_a: DOID:9080 ! macroglobulinemia

[Term]
id: DOID:0060902
name: Norman-Roberts syndrome
alt_id: MIM:257320
alt_id: RDO:0003758
def: "A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10973257 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15083694 "DO"]
synonym: "LIS2" EXACT []
synonym: "lissencephaly 2" EXACT []
synonym: "lissencephaly 2 (Norman-Roberts type)" EXACT []
synonym: "lissencephaly syndrome, Norman-Roberts type" EXACT []
synonym: "Norman Roberts lissencephaly syndrome" EXACT []
synonym: "RELN-RELATED CONDITION" BROAD []
xref: MESH:C537848
xref: ORDO:89844
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0060903
name: thrombosis
def: "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. (DO)" [https://en.wikipedia.org/wiki/Thrombosis "DO"]
synonym: "Blood Clot" EXACT []
synonym: "Blood Clots" EXACT []
synonym: "Thromboses" EXACT []
synonym: "Thrombus" EXACT []
xref: MESH:D013927
is_a: DOID:178 ! vascular disease
is_a: DOID:9001268 ! Embolism and Thrombosis

[Term]
id: DOID:0060904
name: legume allergy
def: "A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. (DO)" [https://en.wikipedia.org/wiki/Legume "DO"]
synonym: "Fabaceae allergy" EXACT []
is_a: DOID:0060503 ! fruit allergy

[Term]
id: DOID:0060911
name: karyomegalic interstitial nephritis
def: "An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16678356 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22772369 "DO"]
synonym: "FAN1-RELATED CONDITION" EXACT []
synonym: "KIN" EXACT []
synonym: "KMIN" EXACT []
xref: GARD:11003
xref: ICD10CM:N11.8
xref: MIM:614817
xref: NCI:C173626
xref: ORDO:401996
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1063 ! interstitial nephritis

[Term]
id: DOID:0060912
name: craniosynostosis 7
alt_id: DOID:9000082
def: "A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23438589/ "DO"]
synonym: "craniosynostosis 7, digenic" EXACT []
synonym: "Craniosynostosis 7, susceptibility to" RELATED []
synonym: "CRS7" EXACT []
synonym: "CRS7, DIGENIC" EXACT []
xref: MIM:617439
is_a: DOID:0080578 ! digenic disease
is_a: DOID:2340 ! craniosynostosis
created_by: mtutaj
creation_date: 2023-11-30T13:38:11Z

[Term]
id: DOID:0060913
name: proteosome-associated autoinflammatory syndrome
alt_id: DOID:9004752
def: "A syndrome that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25521013/ "DO"]
synonym: "proteasome-associated autoinflammatory syndromes" EXACT []
xref: MIM:PS256040
xref: ORDO:324977
is_a: DOID:225 ! syndrome
is_a: DOID:811 ! lipodystrophy
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: mtutaj
creation_date: 2023-11-30T13:29:04Z

[Term]
id: DOID:0060914
name: proteosome-associated autoinflammatory syndrome 2
alt_id: DOID:9009201
def: "A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29805043/ "DO"]
synonym: "POMP-RELATED CONDITION" EXACT []
synonym: "PRAAS2" EXACT []
xref: MIM:618048
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome
created_by: mtutaj
creation_date: 2023-11-30T13:45:38Z

[Term]
id: DOID:0060915
name: proteosome-associated autoinflammatory syndrome 4
alt_id: DOID:9003015
def: "A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30664889/ "DO"]
synonym: "PRAAS4" EXACT []
synonym: "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4" EXACT []
xref: MIM:619183
xref: MONDO:0030931
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome
created_by: mtutaj
creation_date: 2023-11-30T13:45:58Z

[Term]
id: DOID:0060916
name: proteosome-associated autoinflammatory syndrome 3
alt_id: DOID:9009202
def: "An autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. (OMIM)" []
synonym: "PRAAS3" EXACT []
synonym: "proteosome-associated autoinflammatory syndrome 3, digenic" EXACT []
xref: MIM:617591
xref: MONDO:0054699
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome
is_a: DOID:0080578 ! digenic disease
created_by: mtutaj
creation_date: 2023-11-30T13:46:11Z

[Term]
id: DOID:0060917
name: facioscapulohumeral muscular dystrophy 3
alt_id: DOID:9005731
def: "A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32467133/ "DO"]
synonym: "facioscapulohumeral muscular dystrophy 3, digenic" EXACT []
synonym: "facioscapulohumeral muscular dystrophy type 3" EXACT []
synonym: "FSHD3" EXACT []
xref: MIM:619477
is_a: DOID:0080578 ! digenic disease
is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy
created_by: mtutaj
creation_date: 2023-11-30T14:05:40Z

[Term]
id: DOID:0060918
name: facioscapulohumeral muscular dystrophy 4
alt_id: DOID:9002013
def: "A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27153398/ "DO"]
synonym: "facioscapulohumeral muscular dystrophy 4, digenic" EXACT []
synonym: "facioscapulohumeral muscular dystrophy type 4" EXACT []
synonym: "FSHD4" EXACT []
xref: MIM:619478
is_a: DOID:0080578 ! digenic disease
is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy
created_by: mtutaj
creation_date: 2023-11-30T14:05:57Z

[Term]
id: DOID:0060919
name: proteosome-associated autoinflammatory syndrome 5
alt_id: DOID:9009033
def: "A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31783057/ "DO"]
synonym: "PRAAS5" EXACT []
synonym: "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5" EXACT []
xref: MIM:619175
xref: MONDO:0030924
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome
created_by: mtutaj
creation_date: 2023-11-30T13:52:40Z

[Term]
id: DOID:0060920
name: otosclerosis 1
alt_id: DOID:9008430
def: "An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9425236/ "DO"]
synonym: "OTSC1" EXACT []
xref: MIM:166800
is_a: DOID:12185 ! otosclerosis
created_by: mtutaj
creation_date: 2023-12-20T20:18:53Z

[Term]
id: DOID:0060921
name: otosclerosis 2
alt_id: DOID:9001381
alt_id: MIM:605727
def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11170898/ "DO"]
synonym: "OTSC2" EXACT []
xref: MESH:C565302
is_a: DOID:12185 ! otosclerosis
created_by: mtutaj
creation_date: 2023-12-20T20:21:12Z

[Term]
id: DOID:0060922
name: otosclerosis 3
alt_id: DOID:9004993
alt_id: MIM:608244
def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17568407/ "DO"]
synonym: "OTSC3" EXACT []
xref: MESH:C564268
is_a: DOID:12185 ! otosclerosis
created_by: mtutaj
creation_date: 2023-12-20T20:23:02Z

[Term]
id: DOID:0060923
name: otosclerosis 4
alt_id: DOID:9001658
alt_id: MIM:611571
def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16618911/ "DO"]
synonym: "OTSC4" EXACT []
xref: MESH:C566914
is_a: DOID:12185 ! otosclerosis
created_by: mtutaj
creation_date: 2023-12-20T20:24:16Z

[Term]
id: DOID:0060924
name: otosclerosis 5
alt_id: DOID:9004280
alt_id: MIM:608787
def: "An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15173231/ "DO"]
synonym: "OTSC5" EXACT []
xref: MESH:C563858
is_a: DOID:12185 ! otosclerosis
created_by: mtutaj
creation_date: 2023-12-20T20:25:38Z

[Term]
id: DOID:0060925
name: otosclerosis 7
alt_id: DOID:9003581
def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17213839/ "DO"]
synonym: "OTSC7" EXACT []
xref: MESH:C566913
xref: MIM:611572
xref: MONDO:0012697
is_a: DOID:12185 ! otosclerosis
created_by: mtutaj
creation_date: 2023-12-20T20:26:52Z

[Term]
id: DOID:0060926
name: otosclerosis 8
alt_id: DOID:9002286
alt_id: MIM:612096
def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17568407/ "DO"]
synonym: "OTSC8" EXACT []
xref: MESH:C567421
is_a: DOID:12185 ! otosclerosis
created_by: mtutaj
creation_date: 2023-12-20T20:28:09Z

[Term]
id: DOID:0060927
name: otosclerosis 10
alt_id: DOID:9009114
def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21470211/ "DO"]
synonym: "OTSC10" EXACT []
xref: MIM:615589
is_a: DOID:12185 ! otosclerosis
created_by: mtutaj
creation_date: 2023-12-20T20:29:40Z

[Term]
id: DOID:0060928
name: otosclerosis 11
alt_id: DOID:9008970
def: "An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34633540/ "DO"]
synonym: "OTSC11" EXACT []
xref: MIM:620576
is_a: DOID:12185 ! otosclerosis
created_by: mtutaj
creation_date: 2023-12-20T20:31:29Z

[Term]
id: DOID:0060929
name: non-syndromic X-linked intellectual developmental disorder 111
alt_id: DOID:9007793
def: "A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35840571/ "DO"]
synonym: "XLID111" EXACT []
synonym: "X-Linked Intellectual Developmental Disorder 111" EXACT []
xref: MIM:301107
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
created_by: mtutaj
creation_date: 2023-12-20T20:32:46Z

[Term]
id: DOID:0060930
name: developmental dysplasia of the hip
def: "A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11246461/ "DO"]
synonym: "acetabular dysplasia" EXACT []
synonym: "DDH" EXACT []
synonym: "developmental hip dysplasia" EXACT []
xref: EFO:1000648
xref: MESH:D000082602
xref: MIM:PS142700
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9005560 ! Congenital Hip Dislocation
created_by: mtutaj
creation_date: 2024-01-31T10:29:38Z

[Term]
id: DOID:0060931
name: developmental dysplasia of the hip 1
alt_id: DOID:9004340
def: "A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11246461/ "DO", https://pubmed.ncbi.nlm.nih.gov/16773577/ "DO"]
synonym: "DDH1" EXACT []
xref: MIM:142700
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060930 ! developmental dysplasia of the hip
created_by: mtutaj
creation_date: 2024-01-31T10:29:54Z

[Term]
id: DOID:0060932
name: developmental dysplasia of the hip 2
alt_id: DOID:9001838
def: "A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23716478/ "DO"]
synonym: "DDH2" EXACT []
xref: MIM:615612
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060930 ! developmental dysplasia of the hip
created_by: mtutaj
creation_date: 2024-01-31T10:30:06Z

[Term]
id: DOID:0060933
name: developmental delay, dysmorphic facies, and brain anomalies
alt_id: DOID:9003387
def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34112922/ "DO", https://pubmed.ncbi.nlm.nih.gov/37134193/ "DO", https://pubmed.ncbi.nlm.nih.gov/37962958/ "DO"]
synonym: "DEVDFB" EXACT []
xref: MIM:620535
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:9001487 ! Facies
is_a: DOID:9006534 ! Nervous System Malformations
created_by: mtutaj
creation_date: 2024-02-28T16:10:10Z

[Term]
id: DOID:0060934
name: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
alt_id: DOID:9009122
def: "An autosomal recessive intellectual developmental disorder characterized by  global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28626029/ "DO", https://pubmed.ncbi.nlm.nih.gov/31687267/ "DO", https://pubmed.ncbi.nlm.nih.gov/35150401/ "DO", https://pubmed.ncbi.nlm.nih.gov/37713627/ "DO"]
synonym: "NEDMEBA" EXACT []
synonym: "TRAPPC6B-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
xref: MIM:617862
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2024-02-28T16:15:10Z

[Term]
id: DOID:0060935
name: infantile hypotonia with psychomotor retardation and characteristic facies-3
alt_id: DOID:9006056
def: "An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27040691/ "DO", https://pubmed.ncbi.nlm.nih.gov/27040692/ "DO", https://pubmed.ncbi.nlm.nih.gov/30103036/ "DO"]
synonym: "IHPRF3" EXACT []
synonym: "SYNDROMIC INFANTILE ENCEPHALOPATHY" EXACT []
synonym: "TBCK-RELATED CONDITION" EXACT []
synonym: "TBCK-RELATED DISORDERS" EXACT []
synonym: "TBCK-related intellectual disability syndrome" EXACT []
xref: MIM:616900
xref: ORDO:488632
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:9006603 ! Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies
created_by: mtutaj
creation_date: 2024-02-28T16:18:17Z

[Term]
id: DOID:0060936
name: dystonia 28, childhood-onset
alt_id: DOID:9004049
def: "A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27839873/ "DO", https://pubmed.ncbi.nlm.nih.gov/27992417/ "DO"]
synonym: "dystonia 28 childhood-onset" EXACT []
synonym: "DYT28" EXACT []
synonym: "KMT2B-RELATED CONDITION" BROAD []
xref: EFO:0009301
xref: ICD10CM:G24.8
xref: MIM:617284
xref: MONDO:0015004
xref: ORDO:589618
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:543 ! dystonia
created_by: mtutaj
creation_date: 2024-04-01T10:41:35Z

[Term]
id: DOID:0060937
name: dystonia 30
alt_id: DOID:9008352
def: "A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27174565/ "DO", https://pubmed.ncbi.nlm.nih.gov/32808683/ "DO"]
synonym: "DYT30" EXACT []
synonym: "VPS16-ASSOCIATED DISORDER" EXACT []
xref: MIM:619291
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:543 ! dystonia
created_by: mtutaj
creation_date: 2024-04-01T10:44:19Z

[Term]
id: DOID:0060938
name: dystonia 31
alt_id: DOID:9004381
def: "A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34596301/ "DO"]
synonym: "DYT31" EXACT []
synonym: "Zech-Boesch syndrome" EXACT []
xref: MIM:619565
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:543 ! dystonia
created_by: mtutaj
creation_date: 2024-04-01T10:44:33Z

[Term]
id: DOID:0060939
name: dystonia 32
alt_id: DOID:9000126
def: "A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33452836/ "DO"]
synonym: "DYT32" EXACT []
xref: MIM:619637
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:543 ! dystonia
created_by: mtutaj
creation_date: 2024-04-01T10:44:50Z

[Term]
id: DOID:0060940
name: dystonia 33
alt_id: DOID:9007930
def: "A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33236446/ "DO"]
synonym: "DYT33" EXACT []
xref: MIM:619687
xref: MONDO:0030513
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:543 ! dystonia
created_by: mtutaj
creation_date: 2024-04-01T10:50:37Z

[Term]
id: DOID:0060941
name: interstitial lung disease 1
alt_id: DOID:9002918
def: "An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22. (DO)" [https://academic.oup.com/hmg/article/25/8/1457/2384565 "DO", https://pubmed.ncbi.nlm.nih.gov/30854216/ "DO"]
synonym: "ILD1" EXACT []
xref: MIM:619611
xref: MONDO:0030608
xref: ORDO:2032
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3082 ! interstitial lung disease
created_by: mtutaj
creation_date: 2024-04-30T17:01:48Z

[Term]
id: DOID:0060942
name: Ullrich congenital muscular dystrophy 1B
alt_id: DOID:9005971
def: "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23622361/ "DO"]
synonym: "UCMD1A/1B, DIGENIC" RELATED []
synonym: "UCMD1B" EXACT []
synonym: "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC" RELATED []
xref: MIM:620727
xref: MONDO:0958235
is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy
created_by: mtutaj
creation_date: 2024-04-30T17:05:05Z

[Term]
id: DOID:0060943
name: Ullrich congenital muscular dystrophy 1C
alt_id: DOID:9006954
def: "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23622361/ "DO"]
synonym: "UCMD1C" EXACT []
xref: MIM:620728
xref: MONDO:0958236
is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy
created_by: mtutaj
creation_date: 2024-04-30T17:27:06Z

[Term]
id: DOID:0060944
name: episodic kinesigenic dyskinesia 3
alt_id: DOID:9008127
def: "A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34518509/ "DO"]
synonym: "EKD3" EXACT []
xref: MIM:620245
xref: MONDO:0859380
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:543 ! dystonia
created_by: mtutaj
creation_date: 2024-04-01T10:51:11Z

[Term]
id: DOID:0060945
name: amelogenesis imperfecta type 1K
alt_id: DOID:9002275
def: "An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33652941/ "DO"]
synonym: "AI1K" EXACT []
synonym: "AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IK" EXACT []
synonym: "Amelogenesis imperfecta, type IK" EXACT []
xref: MIM:620104
xref: MONDO:0031084
is_a: DOID:2187 ! amelogenesis imperfecta
created_by: mtutaj
creation_date: 2024-05-01T10:27:46Z

[Term]
id: DOID:0060946
name: Ullrich congenital muscular dystrophy 1A
alt_id: DOID:9000534
def: "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23622361/ "DO"]
synonym: "COL6A1-RELATED CONDITION" BROAD []
synonym: "UCMD1" RELATED []
synonym: "UCMD1A" EXACT []
synonym: "UCMD1A/1B, DIGENIC" RELATED []
synonym: "Ullrich congenital muscular dystrophy 1" RELATED []
synonym: "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC" RELATED []
synonym: "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT" NARROW []
xref: MIM:254090
xref: MONDO:0009681
is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy
created_by: mtutaj
creation_date: 2024-05-01T10:57:12Z

[Term]
id: DOID:0060947
name: autosomal recessive intellectual developmental disorder 82
def: "An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37226891/ "DO"]
xref: MIM:620779
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2024-05-01T11:00:09Z

[Term]
id: DOID:0060948
name: Ullrich congenital muscular dystrophy 2
def: "An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24334604/ "DO"]
synonym: "COL12A1-RELATED CONDITION" BROAD []
synonym: "COL12A1- RELATED DISORDER" BROAD []
synonym: "UCMD2" EXACT []
xref: MIM:616470
xref: MONDO:0014654
is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy
created_by: mtutaj
creation_date: 2024-06-18T13:13:32Z

[Term]
id: DOID:0060949
name: 3-hydroxyisobutryl-CoA hydrolase deficiency
alt_id: DOID:9008784
def: "An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia  that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24299452/ "DO"]
synonym: "3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT []
synonym: "Beta-Hydroxyisobutyryl CoA Deacylase Deficiency" EXACT []
synonym: "HIBCHD" EXACT []
synonym: "HIBCH Deficiency" EXACT []
synonym: "Methacrylic Acid Toxicity" EXACT []
synonym: "Methacrylic Aciduria" EXACT []
synonym: "NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL COENZYME A HYDROLASE DEFICIENCY" EXACT []
synonym: "valine metabolic defect" EXACT []
xref: GARD:13202
xref: MESH:C562803
xref: MIM:250620
xref: MONDO:0009603
xref: ORDO:88639
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2024-06-18T13:25:53Z

[Term]
id: DOID:0060950
name: hypervalinemia and hyperleucine-isoleucinemia
alt_id: DOID:9000861
def: "An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25653144/ "DO"]
synonym: "branched-chain aminotransferase 2 deficiency" EXACT []
synonym: "BRANCHED-CHAIN AMINOTRANSFERASE DEFICIENCY" EXACT []
synonym: "HVLI" EXACT []
xref: MIM:618850
xref: MONDO:0100058
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9008211 ! Valinemia
created_by: mtutaj
creation_date: 2024-06-18T13:44:32Z

[Term]
id: DOID:0060951
name: polycystic kidney disease 6
alt_id: DOID:9009199
def: "An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29706351/ "DO"]
synonym: "PKD6" EXACT []
synonym: "Polycystic Kidney Disease 6 with or without Polycystic Liver Disease" EXACT []
xref: MIM:618061
xref: MONDO:0054842
is_a: DOID:898 ! autosomal dominant polycystic kidney disease
created_by: mtutaj
creation_date: 2024-06-18T13:48:12Z

[Term]
id: DOID:0060952
name: polycystic kidney disease 7
alt_id: DOID:9006011
def: "A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35896117/ "DO"]
synonym: "PKD7" EXACT []
xref: MIM:620056
xref: MONDO:0031062
is_a: DOID:898 ! autosomal dominant polycystic kidney disease
created_by: mtutaj
creation_date: 2024-06-18T13:54:14Z

[Term]
id: DOID:0060953
name: ZTTK syndrome
alt_id: DOID:9005698
def: "A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27545680/ "DO"]
synonym: "SON-RELATED CONDITION" EXACT []
synonym: "Zhu-Tokita-Takenouchi-Kim syndrome" EXACT []
synonym: "ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME" EXACT []
synonym: "ZTTKS" EXACT []
xref: GARD:13489
xref: MIM:617140
xref: MONDO:0014936
xref: ORDO:500150
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008514 ! Psychomotor Disorders
created_by: mtutaj
creation_date: 2024-06-18T13:57:23Z

[Term]
id: DOID:0060954
name: Holoprosencephaly 13, X-linked
alt_id: DOID:9008492
def: "A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31334757/ "DO"]
synonym: "Holoprosencephaly 13" EXACT []
synonym: "HPE13" EXACT []
synonym: "STAG2-RELATED CONDITION" BROAD []
synonym: "STAG2-related disorder" BROAD []
xref: MIM:301043
xref: MONDO:0026763
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:4621 ! holoprosencephaly
created_by: mtutaj
creation_date: 2024-06-18T14:00:11Z

[Term]
id: DOID:0060955
name: dystonia 35, childhood-onset
alt_id: DOID:9007245
def: "A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34542157/ "DO"]
synonym: "DYT35" EXACT []
xref: MIM:619921
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:543 ! dystonia
created_by: mtutaj
creation_date: 2024-04-01T10:54:08Z

[Term]
id: DOID:0060956
name: dystonia 37, early-onset with striatal lesions
alt_id: DOID:9004848
def: "A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36333996/ "DO"]
synonym: "DYT37" EXACT []
xref: MIM:620427
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:543 ! dystonia
created_by: mtutaj
creation_date: 2024-04-01T10:55:26Z

[Term]
id: DOID:0060957
name: myoclonic dystonia 34
alt_id: DOID:9004834
def: "A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32212350/ "DO"]
synonym: "DYT34" EXACT []
synonym: "KCNN2-RELATED CONDITION" BROAD []
xref: MIM:619724
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090033 ! myoclonic dystonia
created_by: mtutaj
creation_date: 2024-04-01T10:56:56Z

[Term]
id: DOID:0060958
name: orofaciodigital syndrome XIV
alt_id: DOID:9002841
def: "An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24997988/ "DO"]
synonym: "C2CD3-RELATED CONDITION" EXACT []
synonym: "OFD14" EXACT []
synonym: "orofaciodigital syndrome 14" EXACT []
xref: GARD:13655
xref: MIM:615948
xref: MONDO:0014413
xref: ORDO:434179
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4501 ! orofaciodigital syndrome
created_by: mtutaj
creation_date: 2024-06-18T14:38:04Z

[Term]
id: DOID:0060959
name: orofaciodigital syndrome II
alt_id: DOID:9003244
def: "An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27530628/ "DO"]
synonym: "Mohr Syndrome" EXACT []
synonym: "Oral-facial-digital syndrome, type 2" EXACT []
synonym: "Oral Facial Digital Syndrome, Type II" EXACT []
synonym: "orofaciodigital syndrome 2" EXACT []
xref: GARD:3701
xref: MESH:C538585
xref: MIM:252100
xref: MONDO:0009642
xref: ORDO:2751
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4501 ! orofaciodigital syndrome
created_by: mtutaj
creation_date: 2024-06-18T14:41:49Z

[Term]
id: DOID:0060960
name: orofaciodigital syndrome XIX
alt_id: DOID:9000935
def: "An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36084634/ "DO"]
synonym: "OFD19" EXACT []
synonym: "OFDS XIX" EXACT []
synonym: "ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX" EXACT []
xref: MIM:620107
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4501 ! orofaciodigital syndrome
created_by: mtutaj
creation_date: 2024-06-18T14:45:39Z

[Term]
id: DOID:0060961
name: orofaciodigital syndrome XVIII
alt_id: DOID:9006510
def: "An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27060890/ "DO"]
synonym: "OFD18" EXACT []
synonym: "OFDS XVIII" EXACT []
synonym: "Oral-facial-digital syndrome type 18" EXACT []
synonym: "ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVIII" EXACT []
synonym: "Oral-facial-digital syndrome with short stature and brachymesophalangy" EXACT []
synonym: "orofaciodigital syndrome 18" EXACT []
synonym: "Orofaciodigital syndrome type 18" EXACT []
xref: MIM:617927
xref: MONDO:0054770
xref: ORDO:508501
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4501 ! orofaciodigital syndrome
created_by: mtutaj
creation_date: 2024-06-18T14:50:14Z

[Term]
id: DOID:0060962
name: orofaciodigital syndrome XX
alt_id: DOID:9009195
def: "An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37384395/ "DO"]
synonym: "OFD20" EXACT []
xref: MIM:620718
xref: MONDO:0958230
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4501 ! orofaciodigital syndrome
created_by: mtutaj
creation_date: 2024-06-18T14:54:26Z

[Term]
id: DOID:0060964
name: Loeys-Dietz syndrome 6
alt_id: DOID:9006321
def: "A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30157302/ "DO"]
synonym: "LDS6" EXACT []
synonym: "SMAD2-RELATED CONDITION" BROAD []
xref: MIM:619656
xref: MONDO:0030500
is_a: DOID:0050466 ! Loeys-Dietz syndrome
created_by: mtutaj
creation_date: 2024-06-18T15:23:37Z

[Term]
id: DOID:0060965
name: episodic ataxia type 9
alt_id: DOID:9006425
def: "An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30928199/ "DO"]
synonym: "COMPLEX NEURODEVELOPMENTAL DISORDER" BROAD []
synonym: "EA9" EXACT []
synonym: "SCN2A-related disorder" BROAD []
xref: MIM:618924
xref: MONDO:0030064
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:963 ! episodic ataxia
created_by: mtutaj
creation_date: 2024-06-18T15:47:37Z

[Term]
id: DOID:0060966
name: dystonia 22, juvenile-onset
alt_id: DOID:9000446
def: "A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33539324/ "DO"]
synonym: "dystonia 22" BROAD []
synonym: "DYT22" BROAD []
synonym: "DYT22JO" EXACT []
xref: MIM:620453
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:543 ! dystonia
created_by: mtutaj
creation_date: 2024-04-01T11:16:44Z

[Term]
id: DOID:0060967
name: dystonia 22, adult-onset
alt_id: DOID:9004025
def: "A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33539324/ "DO"]
synonym: "DYT22AO" EXACT []
xref: MIM:620456
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:543 ! dystonia
created_by: mtutaj
creation_date: 2024-04-01T11:18:50Z

[Term]
id: DOID:0060968
name: hypotrichosis 15
alt_id: DOID:9001132
def: "A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32336749/ "DO"]
synonym: "HYPT15" EXACT []
xref: MIM:620177
xref: MONDO:0859341
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4535 ! hypotrichosis
created_by: mtutaj
creation_date: 2024-06-21T09:48:07Z

[Term]
id: DOID:0060969
name: galactosemia 4
alt_id: DOID:9004085
def: "A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30451973/ "DO"]
synonym: "GALAC4" EXACT []
synonym: "galactosemia IV" EXACT []
synonym: "galactosemia type 4" EXACT []
synonym: "galactose mutarotase deficiency" EXACT []
synonym: "GALM deficiency" EXACT []
synonym: "GALM-RELATED CONDITION" EXACT []
xref: MIM:618881
xref: MONDO:0030105
xref: ORDO:570422
is_a: DOID:9870 ! galactosemia
created_by: mtutaj
creation_date: 2024-06-21T09:50:33Z

[Term]
id: DOID:0060970
name: Cornelia de Lange syndrome 6
alt_id: DOID:9006093
def: "A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16604071/ "DO"]
synonym: "CDLS6" EXACT []
xref: MIM:620568
xref: MONDO:0957921
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11725 ! Cornelia de Lange syndrome
created_by: mtutaj
creation_date: 2024-06-21T09:54:26Z

[Term]
id: DOID:0060971
name: interstitial lung disease 2
def: "An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32855221/ "DO"]
synonym: "ILD2" EXACT []
xref: MIM:178500
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3082 ! interstitial lung disease
created_by: mtutaj
creation_date: 2024-06-28T14:21:30Z

[Term]
id: DOID:0060972
name: renal hypomagnesemia 7, with or without dilated cardiomyopathy
def: "A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34607910/ "DO"]
synonym: "HOMG7" EXACT []
synonym: "HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY" NARROW []
synonym: "Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy" EXACT []
synonym: "RRAGD-RELATED CONDITION" EXACT []
xref: DOID:9005972
xref: MIM:620152
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060879 ! primary hypomagnesemia
is_a: DOID:447 ! renal tubular transport disease
created_by: mtutaj
creation_date: 2024-06-28T15:58:26Z

[Term]
id: DOID:0060973
name: WHIM syndrome 2
alt_id: DOID:9006180
def: "An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24777453/ "DO"]
synonym: "CXCR2-RELATED CONDITION" EXACT []
synonym: "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 2" EXACT []
synonym: "WHIMS2" EXACT []
xref: MIM:619407
xref: MONDO:0030374
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9004715 ! WHIM Syndrome
created_by: mtutaj
creation_date: 2024-06-28T16:03:47Z

[Term]
id: DOID:0060974
name: autosomal recessive Robinow syndrome 2
alt_id: DOID:9007716
def: "A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29276006/ "DO"]
synonym: "RRS2" EXACT []
xref: MIM:618529
xref: MONDO:0032800
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060254 ! Robinow syndrome
created_by: mtutaj
creation_date: 2024-06-28T16:13:30Z

[Term]
id: DOID:0060975
name: polycystic liver disease 2
alt_id: DOID:9006964
def: "A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24886261/ "DO"]
synonym: "PCLD2" EXACT []
synonym: "polycystic liver disease 2 with or without kidney cysts" EXACT []
xref: MIM:617004
xref: MONDO:0014860
is_a: DOID:0050770 ! polycystic liver disease
created_by: mtutaj
creation_date: 2024-06-28T16:17:28Z

[Term]
id: DOID:0060976
name: polycystic liver disease 3
alt_id: DOID:9009126
def: "A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28375157/ "DO"]
synonym: "PCLD3" EXACT []
synonym: "polycystic liver disease 3 with or without kidney cysts" EXACT []
xref: MIM:617874
xref: MONDO:0054743
is_a: DOID:0050770 ! polycystic liver disease
created_by: mtutaj
creation_date: 2024-06-28T16:24:56Z

[Term]
id: DOID:0060977
name: polycystic liver disease 4
alt_id: DOID:9009127
def: "A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24706814/ "DO"]
synonym: "PCLD4" EXACT []
synonym: "POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS" NARROW []
synonym: "polycystic liver disease 4 with or without kidney cysts" EXACT []
xref: MIM:617875
xref: MONDO:0044327
is_a: DOID:0050770 ! polycystic liver disease
created_by: mtutaj
creation_date: 2024-06-28T16:25:11Z

[Term]
id: DOID:0060978
name: Fanconi anemia complementation group W
alt_id: DOID:9009064
def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28691929/ "DO"]
synonym: "FANCW" EXACT []
xref: MIM:617784
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia
created_by: mtutaj
creation_date: 2024-07-31T14:36:37Z

[Term]
id: DOID:0060979
name: Fanconi anemia complementation group S
alt_id: DOID:9004232
def: "A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29133208/ "DO"]
synonym: "FANCS" EXACT []
xref: MIM:617883
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia
created_by: mtutaj
creation_date: 2024-07-31T14:39:51Z

[Term]
id: DOID:0060980
name: polycystic liver disease 1
alt_id: DOID:9001771
def: "A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24886261/ "DO"]
synonym: "Isolated autosomal dominant polycystic liver disease" EXACT []
synonym: "Isolated polycystic liver disease" EXACT []
synonym: "PCLD1" EXACT []
synonym: "polycystic liver disease 1 with or without kidney cysts" EXACT []
xref: MIM:174050
xref: MONDO:0008265
is_a: DOID:0050770 ! polycystic liver disease
created_by: mtutaj
creation_date: 2024-07-31T14:42:17Z

[Term]
id: DOID:0060981
name: mosaic variegated aneuploidy syndrome 4
alt_id: DOID:9007689
def: "A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34009673/ "DO"]
synonym: "MVA4" EXACT []
xref: MIM:620153
xref: MONDO:0859329
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome
created_by: mtutaj
creation_date: 2024-07-31T14:45:17Z

[Term]
id: DOID:0060982
name: mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition
alt_id: DOID:9006369
def: "A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36322655/ "DO"]
synonym: "mosaic variegated aneuploidy syndrome 7" EXACT []
synonym: "MVA7" EXACT []
xref: MIM:620189
is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome
is_a: DOID:9001329 ! Tumor Predisposition Syndrome
created_by: mtutaj
creation_date: 2024-07-31T14:47:53Z

[Term]
id: DOID:0060983
name: sitosterolemia 2
alt_id: DOID:9001723
def: "An intestinal disease that is characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11099417/ "DO"]
synonym: "ABCG5-RELATED CONDITION" EXACT []
synonym: "phytosterolemia" EXACT []
synonym: "STSL2" EXACT []
xref: MIM:618666
xref: MONDO:0020748
is_a: DOID:0090019 ! sitosterolemia
created_by: mtutaj
creation_date: 2024-07-31T14:50:35Z

[Term]
id: DOID:0070000
name: 3-methylglutaconic aciduria type 8
def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27208207 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27696117 "DO"]
synonym: "3-methylglutaconic aciduria type VIII" EXACT []
synonym: "3-methylglutaconic aciduria type VIII, MGCA8" EXACT []
synonym: "HTRA2-RELATED CONDITION" BROAD []
synonym: "MGCA8" EXACT []
xref: MIM:617248
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060336 ! 3-methylglutaconic aciduria

[Term]
id: DOID:0070002
name: 3-methylglutaconic aciduria type 9
def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27573165 "DO"]
synonym: "3-methylglutaconic aciduria type IX" EXACT []
synonym: "3-methylglutaconic aciduria type IX, MGCA9" EXACT []
synonym: "3-methylglutaconic acuduria type IX, MGCA9" EXACT []
synonym: "MGCA9" EXACT []
synonym: "TIMM50-RELATED CONDITION" EXACT []
xref: MIM:617698
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060336 ! 3-methylglutaconic aciduria

[Term]
id: DOID:0070003
name: blastoma
def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. (DO)" [https://en.wikipedia.org/wiki/Blastoma "DO"]
xref: EFO:0005785
is_a: DOID:0050687 ! cell type cancer

[Term]
id: DOID:0070004
name: myeloid neoplasm
def: "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. (DO)" [http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf "DO", https://www.ncbi.nlm.nih.gov/pubmed/19357394 "DO"]
synonym: "myeloid malignancy" EXACT []
synonym: "myeloid tumor" EXACT []
synonym: "myeloproliferative disorder" EXACT []
synonym: "myeloproliferative disorders" EXACT []
xref: EFO:0002427
xref: MESH:D009196
xref: MONDO:0005170
xref: NCI:C9290
is_a: DOID:4960 ! bone marrow cancer

[Term]
id: DOID:0070005
name: Seckel syndrome 9
def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26595769 "DO"]
synonym: "SCKL9" EXACT []
xref: MIM:616777
is_a: DOID:0050569 ! Seckel syndrome

[Term]
id: DOID:0070006
name: Seckel syndrome 6
def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21983783 "DO"]
synonym: "SCKL6" EXACT []
xref: MIM:614728
is_a: DOID:0050569 ! Seckel syndrome

[Term]
id: DOID:0070007
name: Seckel syndrome 1
alt_id: MIM:210600
def: "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12640452 "DO"]
synonym: "ATR-RELATED CONDITION" BROAD []
synonym: "microcephalic primordial dwarfism 1" EXACT []
synonym: "microcephalic primordial dwarfism I" EXACT []
synonym: "nanocephalic dwarfism" EXACT []
synonym: "SCKL1" EXACT []
synonym: "Seckel-type dwarfism" EXACT []
xref: MESH:C537533
is_a: DOID:0050569 ! Seckel syndrome
is_a: DOID:10907 ! microcephaly
is_a: DOID:9001487 ! Facies
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0070008
name: Seckel syndrome 10
def: "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25105364 "DO"]
synonym: "SCKL10" EXACT []
xref: MIM:617253
is_a: DOID:0050569 ! Seckel syndrome

[Term]
id: DOID:0070009
name: Seckel syndrome 8
def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24389050 "DO"]
synonym: "DNA2-RELATED CONDITION" BROAD []
synonym: "SCKL8" EXACT []
synonym: "Seckel syndrome type 8" EXACT []
xref: MIM:615807
is_a: DOID:0050569 ! Seckel syndrome

[Term]
id: DOID:0070010
name: Seckel syndrome 4
def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20522431 "DO"]
synonym: "CENPJ-RELATED DISORDER" BROAD []
synonym: "SCKL4" EXACT []
xref: MIM:613676
is_a: DOID:0050569 ! Seckel syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:9002231 ! Fetal Growth Retardation
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0070011
name: Seckel syndrome 7
def: "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22933543 "DO"]
synonym: "SCKL7" EXACT []
xref: MIM:614851
is_a: DOID:0050569 ! Seckel syndrome

[Term]
id: DOID:0070012
name: Seckel syndrome 5
def: "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21131973 "DO"]
synonym: "CEP152-RELATED CONDITION" BROAD []
synonym: "CEP152-related disorder" BROAD []
synonym: "CEP152-related disorders" BROAD []
synonym: "SCKL5" EXACT []
xref: MIM:613823
is_a: DOID:0050569 ! Seckel syndrome

[Term]
id: DOID:0070013
name: Seckel syndrome 2
alt_id: MIM:606744
def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21998596 "DO"]
synonym: "Bird-headed dwarfism 2" EXACT []
synonym: "Microcephalic primordial dwarfism 2" EXACT []
synonym: "RBBP8-related disorders" RELATED []
synonym: "SCKL2" EXACT []
synonym: "Seckel-type dwarfism 2" BROAD []
xref: MESH:C537534
is_a: DOID:0050569 ! Seckel syndrome
is_a: DOID:10907 ! microcephaly
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0070014
name: autosomal dominant dyskeratosis congenita 1
def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11574891 "DO"]
synonym: "DKCA1" EXACT []
synonym: "Dyskeratosis Congenita, Scoggins Type" EXACT []
xref: MIM:127550
xref: MONDO:0007485
is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita

[Term]
id: DOID:0070015
name: autosomal recessive dyskeratosis congenita 1
def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17507419 "DO"]
synonym: "DKCB1" EXACT []
xref: MIM:224230
is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita

[Term]
id: DOID:0070016
name: autosomal dominant dyskeratosis congenita 2
def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16247010 "DO"]
synonym: "DKCA2" EXACT []
xref: MIM:613989
is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita

[Term]
id: DOID:0070017
name: autosomal recessive dyskeratosis congenita 2
def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18523010 "DO"]
synonym: "DKCB2" EXACT []
xref: MIM:613987
is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita

[Term]
id: DOID:0070018
name: autosomal dominant dyskeratosis congenita 3
def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252230 "DO"]
synonym: "DKCA3" EXACT []
synonym: "TINF2-RELATED CONDITION" BROAD []
xref: MIM:613990
is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita

[Term]
id: DOID:0070019
name: autosomal recessive dyskeratosis congenita 3
def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21205863 "DO"]
synonym: "DKCB3" EXACT []
synonym: "WRAP53-RELATED CONDITION" EXACT []
xref: MIM:613988
is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita

[Term]
id: DOID:0070020
name: autosomal dominant dyskeratosis congenita 4
def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23329068 "DO"]
synonym: "DKCA4" EXACT []
is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita

[Term]
id: DOID:0070021
name: autosomal recessive dyskeratosis congenita 4
def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17785587 "DO"]
synonym: "DKCB4" EXACT []
is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita

[Term]
id: DOID:0070022
name: autosomal recessive dyskeratosis congenita 5
def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19461895 "DO"]
synonym: "DKCB5" EXACT []
xref: MIM:615190
is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita

[Term]
id: DOID:0070023
name: autosomal dominant dyskeratosis congenita 6
def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25205116 "DO"]
synonym: "ACD-RELATED CONDITION" BROAD []
synonym: "DKCA6" EXACT []
synonym: "DKCB7" RELATED []
synonym: "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7" RELATED []
xref: MIM:616553
is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita

[Term]
id: DOID:0070024
name: autosomal recessive dyskeratosis congenita 6
alt_id: DOID:9007288
def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25893599 "DO"]
synonym: "DKCB6" EXACT []
xref: MIM:616353
xref: MONDO:0014600
is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita

[Term]
id: DOID:0070025
name: X-linked dyskeratosis congenita
def: "A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9590285 "DO"]
synonym: "DKC1-RELATED CONDITION" BROAD []
synonym: "DKCX" EXACT []
synonym: "Zinsser-Cole-Engman syndrome" EXACT []
xref: MIM:305000
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:2729 ! dyskeratosis congenita

[Term]
id: DOID:0070026
name: Revesz syndrome
alt_id: MIM:268130
def: "A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252230 "DO"]
synonym: "DKCA5" EXACT []
synonym: "dyskeratosis congenita, autosomal dominant 5" EXACT []
synonym: "exudative retinopathy with bone marrow failure" EXACT []
synonym: "Revesz Debuse syndrome" EXACT []
synonym: "TINF2-RELATED CONDITION" BROAD []
xref: GARD:4695
xref: MESH:C538371
is_a: DOID:225 ! syndrome
is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita
is_a: DOID:9002278 ! Metabolic Bone Diseases

[Term]
id: DOID:0070027
name: CST3-related cerebral amyloid angiopathy
alt_id: MIM:105150
alt_id: RDO:0004152
def: "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2900981 "DO"]
synonym: "Amyloidosis VI" EXACT []
synonym: "Autosomal Dominant Cerebrovascular Amyloidosis" EXACT []
synonym: "Cerebral Amyloid Angiopathy, Familial" EXACT []
synonym: "Cerebral Amyloid Angiopathy, Genetic" EXACT []
synonym: "cerebroarterial amyloidosis, Icelandic type" EXACT []
synonym: "Dutch Type Hereditary Cerebral Amyloid Angiopathy" EXACT []
synonym: "HCHWA" EXACT []
synonym: "Hereditary Cerebral Amyloid Angiopathy" EXACT []
synonym: "Hereditary Cerebral Hemorrhage With Amyloidosis" EXACT []
synonym: "Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant" EXACT []
synonym: "Icelandic Type Amyloidosis" EXACT []
synonym: "Icelandic type hereditary cerebral amyloid angiopathy" EXACT []
xref: MESH:D028243
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112313 ! brain small vessel disease
is_a: DOID:9004492 ! Familial Amyloidosis
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9246 ! cerebral amyloid angiopathy

[Term]
id: DOID:0070028
name: APP-related cerebral amyloid angiopathy
alt_id: MIM:605714
def: "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2111584 "DO"]
synonym: "APP-related cerebral amyloid angiopathy, Arctic variant" EXACT []
synonym: "APP-RELATED CONDITION" BROAD []
synonym: "CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED" EXACT []
synonym: "Cerebral Amyloid Angiopathy, App-Related, Dutch Variant" EXACT []
synonym: "Cerebral Amyloid Angiopathy, App-Related, Flemish Variant" EXACT []
synonym: "Cerebral Amyloid Angiopathy, App-Related, Iowa Variant" EXACT []
synonym: "Cerebral Amyloid Angiopathy, App-Related, Italian Variant" EXACT []
synonym: "Cerebral Amyloid Angiopathy, App-Related, Piedmont Variant" EXACT []
synonym: "Cerebral Hemorrhage with Amyloidosis, Hereditary, Dutch Type" EXACT []
synonym: "cerebroarterial amyloidosis, APP-related" EXACT []
synonym: "HCHWAD" EXACT []
synonym: "hereditary amyloidosis with cerebral hemorrhage, Dutch variant" EXACT []
xref: MESH:C537944
xref: NCI:C157147
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9002676 ! Cerebral Hemorrhage
is_a: DOID:9004492 ! Familial Amyloidosis
is_a: DOID:9246 ! cerebral amyloid angiopathy

[Term]
id: DOID:0070029
name: ITM2B-related cerebral amyloid angiopathy 1
alt_id: MIM:176500
def: "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10391242 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7086452 "DO"]
synonym: "cerebral amyloid angiopathy, British type" EXACT []
synonym: "familial British dementia" EXACT []
synonym: "FBD" EXACT []
synonym: "presenile dementia with spastic ataxia" EXACT []
xref: GARD:8344
xref: MESH:C538208
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070027 ! CST3-related cerebral amyloid angiopathy
is_a: DOID:9246 ! cerebral amyloid angiopathy

[Term]
id: DOID:0070030
name: ITM2B-related cerebral amyloid angiopathy 2
alt_id: MIM:117300
alt_id: RDO:0004153
def: "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10781099 "DO"]
synonym: "cerebellar ataxia, cataract, deafness, and dementia or psychosis" EXACT []
synonym: "familial Danish dementia" EXACT []
synonym: "FDD" EXACT []
synonym: "heredopathia ophthalmootoencephalica" EXACT []
synonym: "HOOE" EXACT []
xref: MESH:C538209
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:1307 ! dementia
is_a: DOID:83 ! cataract
is_a: DOID:9008681 ! Deafness
is_a: DOID:9246 ! cerebral amyloid angiopathy

[Term]
id: DOID:0070031
name: autosomal dominant intellectual developmental disorder 1
alt_id: MIM:156200
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21981781 "DO"]
synonym: "autosomal dominant mental retardation 1" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 1" EXACT []
synonym: "CHROMOSOME 2q23.1 DELETION SYNDROME" NARROW []
synonym: "MBD5 associated neurodevelopmental disorder" EXACT []
synonym: "MBD5-RELATED CONDITION" EXACT []
synonym: "MRD1" EXACT []
xref: EFO:0009072
xref: MESH:C566947
xref: NCI:C141424
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070032
name: autosomal dominant intellectual developmental disorder 2
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18060736 "DO"]
synonym: "autosomal dominant mental retardation 2" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 2" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 2" EXACT []
synonym: "MRD2" EXACT []
xref: MIM:614113
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070033
name: autosomal dominant intellectual developmental disorder 3
alt_id: MIM:612580
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19012874 "DO"]
synonym: "autosomal dominant mental retardation 3" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 3" EXACT []
synonym: "CDH15-RELATED CONDITION" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 3" EXACT []
synonym: "MRD3" EXACT []
xref: MESH:C567241
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070034
name: autosomal dominant intellectual developmental disorder 4
alt_id: MIM:612581
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19012874 "DO"]
synonym: "autosomal dominant mental retardation 4" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 4" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 4" EXACT []
synonym: "MRD4" EXACT []
xref: MESH:C567240
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070035
name: autosomal dominant intellectual developmental disorder 5
alt_id: MIM:612621
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19196676 "DO"]
synonym: "autosomal dominant mental retardation 5" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 5" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 5" EXACT []
synonym: "MRD5" EXACT []
synonym: "SYNGAP1-RELATED CONDITION" EXACT []
synonym: "SYNGAP1-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY" EXACT []
synonym: "SYNGAP1-RELATED ENCEPHALOPATHY" EXACT []
xref: MESH:C567234
xref: NCI:C178414
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070036
name: autosomal dominant intellectual developmental disorder 6
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20890276 "DO"]
synonym: "autosomal dominant intellectual developmental disorder 6, with or without seizures" EXACT []
synonym: "autosomal dominant mental retardation 6" EXACT []
synonym: "autosomal dominant mental retardation 6, with or without seizures" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 6" EXACT []
synonym: "GRIN2B-RELATED CONDITION" BROAD []
synonym: "GRIN2B-RELATED DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDER" BROAD []
synonym: "GRIN2B-RELATED DISORDER" BROAD []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 6" EXACT []
synonym: "MRD6" EXACT []
xref: MIM:613970
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:11832 ! visual epilepsy

[Term]
id: DOID:0070037
name: autosomal dominant intellectual developmental disorder 7
def: "An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK333438/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23160955 "DO"]
synonym: "autosomal dominant mental retardation 7" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 7" EXACT []
synonym: "DYRK1A-RELATED DISORDER" EXACT []
synonym: "DYRK1A-RELATED INTELLECTUAL DISABILITY SYNDROME" EXACT []
synonym: "DYRK1A syndrome" EXACT []
synonym: "INTELLECTUAL DISABILITY SYNDROME DUE TO A DYRK1A POINT MUTATION" NARROW []
synonym: "MRD7" EXACT []
xref: MIM:614104
xref: NCI:C179708
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070038
name: autosomal dominant intellectual developmental disorder 8
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21376300 "DO"]
synonym: "autosomal dominant mental retardation 8" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 8" EXACT []
synonym: "GRIN1-related disorder" EXACT []
synonym: "MRD8" EXACT []
synonym: "NDHMSD" EXACT []
synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant" EXACT []
xref: EFO:0009300
xref: MIM:614254
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070039
name: NESCAV syndrome
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21376300 "DO"]
synonym: "autosomal dominant intellectual disability 9" EXACT []
synonym: "autosomal dominant mental retardation 9" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 9" EXACT []
synonym: "MRD9" EXACT []
synonym: "NESCAVS" EXACT []
synonym: "neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment" EXACT []
xref: MIM:614255
xref: NCI:C133742
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070040
name: autosomal dominant intellectual developmental disorder 10
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21376300 "DO"]
synonym: "autosomal dominant mental retardation 10" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 10" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 10" EXACT []
synonym: "MRD10" EXACT []
xref: MIM:614256
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070041
name: autosomal dominant intellectual developmental disorder 11
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21376300 "DO"]
synonym: "autosomal dominant mental retardation 11" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 11" EXACT []
synonym: "chromosome 20q11-q12 deletion syndrome" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 11" EXACT []
synonym: "MRD11" EXACT []
xref: MIM:614257
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070042
name: Coffin-Siris syndrome 1
def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22405089 "DO"]
synonym: "ARID1B-RELATED BAFOPATHY" EXACT []
synonym: "ARID1B-RELATED CONDITION" EXACT []
synonym: "ARID1B-RELATED DISORDER" EXACT []
synonym: "autosomal dominant mental retardation 12" EXACT []
synonym: "CSS1" EXACT []
synonym: "fifth digit syndrome" BROAD []
synonym: "HHID" EXACT []
synonym: "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features" EXACT []
synonym: "MRD12" EXACT []
xref: MIM:135900
is_a: DOID:1925 ! Coffin-Siris syndrome

[Term]
id: DOID:0070043
name: autosomal dominant intellectual developmental disorder 13
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21076407 "DO"]
synonym: "autosomal dominant mental retardation 13" EXACT []
synonym: "autosomal dominant mental retardation 13, with neuronal migration defects" EXACT []
synonym: "autosomal dominant mental retardation with neuronal migration defects" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 13" EXACT []
synonym: "CDCBM13" EXACT []
synonym: "complex cortical dysplasia with other brain malformations 13" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 13" EXACT []
synonym: "MRD13" EXACT []
xref: MIM:614563
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations

[Term]
id: DOID:0070044
name: Coffin-Siris syndrome 2
def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22426308 "DO"]
synonym: "ARID1A-RELATED BAFOPATHY" EXACT []
synonym: "ARID1A-RELATED CONDITION" EXACT []
synonym: "autosomal dominant mental retardation 14" EXACT []
synonym: "CSS2" EXACT []
synonym: "MRD14" EXACT []
xref: MIM:614607
is_a: DOID:1925 ! Coffin-Siris syndrome

[Term]
id: DOID:0070045
name: Coffin-Siris syndrome 3
def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22426308 "DO"]
synonym: "autosomal dominant mental retardation 15" EXACT []
synonym: "CSS3" EXACT []
synonym: "MRD15" EXACT []
xref: MIM:614608
is_a: DOID:1925 ! Coffin-Siris syndrome

[Term]
id: DOID:0070046
name: Coffin-Siris syndrome 4
def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22426308 "DO"]
synonym: "autosomal dominant mental retardation 16" EXACT []
synonym: "CSS4" EXACT []
synonym: "MRD16" EXACT []
synonym: "SMARCA4-RELATED BAFOPATHY" BROAD []
synonym: "SMARCA4-RELATED CONDITION" BROAD []
xref: MIM:614609
is_a: DOID:1925 ! Coffin-Siris syndrome

[Term]
id: DOID:0070047
name: Schuurs-Hoeijmakers syndrome
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26842493 "DO"]
synonym: "autosomal dominant intellectual developmental disorder 17" EXACT []
synonym: "autosomal dominant mental retardation 17" EXACT []
synonym: "MRD17" EXACT []
synonym: "SHMS" EXACT []
xref: MIM:615009
xref: NCI:C150555
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0070048
name: GAND syndrome
def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31949314/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23033978 "DO"]
synonym: "autosomal dominant intellectual developmental disorder 18" EXACT []
synonym: "autosomal dominant mental retardation 18" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 18" EXACT []
synonym: "GAND" EXACT []
synonym: "GATAD2B-related disorder" EXACT []
synonym: "MRD18" EXACT []
xref: MIM:615074
xref: NCI:C202606
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070049
name: autosomal dominant intellectual developmental disorder 19
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23033978 "DO"]
synonym: "autosomal dominant mental retardation 19" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 19" EXACT []
synonym: "CTNNB1-RELATED SYNDROMIC INTELLECTUAL DISABILITY" EXACT []
synonym: "MRD19" EXACT []
synonym: "NEDSDV" EXACT []
synonym: "neurodevelopmental disorder with spastic diplegia and visual defects" EXACT []
xref: MIM:615075
xref: MONDO:0014035
xref: NCI:C176897
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070050
name: neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20513142 "DO"]
synonym: "autosomal dominant mental retardation 20" EXACT []
synonym: "CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL" NARROW []
synonym: "INTELLECTUAL DISABILITY, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS" EXACT []
synonym: "MEF2C-RELATED DISORDER" EXACT []
synonym: "Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations" EXACT []
synonym: "MRD20" EXACT []
xref: MIM:613443
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:1826 ! epilepsy
is_a: DOID:2303 ! stereotypic movement disorder
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:0070051
name: autosomal dominant intellectual developmental disorder 21
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23746550 "DO"]
synonym: "autosomal dominant mental retardation 21" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 21" EXACT []
synonym: "CTCF-RELATED CONDITION" EXACT []
synonym: "CTCF-RELATED DISORDER" EXACT []
synonym: "INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME" EXACT []
synonym: "MRD21" EXACT []
xref: MIM:615502
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070052
name: autosomal dominant intellectual developmental disorder 22
alt_id: MIM:612337
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24193349 "DO"]
synonym: "autosomal dominant mental retardation 22" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 22" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 22" EXACT []
synonym: "MRD22" EXACT []
synonym: "ZBTB18-RELATED CONDITION" EXACT []
synonym: "ZBTB18-RELATED DISORDER" EXACT []
xref: MESH:C567346
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0070053
name: autosomal dominant intellectual developmental disorder 23
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24680889 "DO"]
synonym: "autosomal dominant mental retardation 23" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 23" EXACT []
synonym: "CORNELIA DE LANGE-LIKE SYNDROME" EXACT []
synonym: "MRD23" EXACT []
synonym: "SETD5-RELATED CONDITION" EXACT []
synonym: "SETD5-RELATED DISORDER" EXACT []
xref: MIM:615761
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070054
name: Vulto-van Silfout-de Vries syndrome
def: "An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30923367/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/21076407 "DO"]
synonym: "autosomal dominant mental retardation 24" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 24" EXACT []
synonym: "DEAF1-RELATED CONDITION" BROAD []
synonym: "DEAF1-RELATED DISORDER" BROAD []
synonym: "IDDISBAS" EXACT []
synonym: "intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 24" EXACT []
synonym: "MRD24" EXACT []
synonym: "VSVS" EXACT []
xref: MIM:615828
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070055
name: Xia-Gibbs syndrome
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24791903 "DO"]
synonym: "AHDC1-RELATED CONDITION" EXACT []
synonym: "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome" EXACT []
synonym: "autosomal dominant mental retardation 25" EXACT []
synonym: "MRD25" EXACT []
synonym: "XIGIS" EXACT []
xref: EFO:0009015
xref: GARD:13409
xref: MIM:615829
xref: NCI:C192092
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0070056
name: autosomal dominant intellectual developmental disorder 26
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23332918 "DO"]
synonym: "AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY" NARROW []
synonym: "autosomal dominant mental retardation 26" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 26" EXACT []
synonym: "AUTS2-RELATED CONDITION" BROAD []
synonym: "MRD26" EXACT []
xref: MIM:615834
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070057
name: Coffin-Siris syndrome 9
def: "An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24886874 "DO"]
synonym: "autosomal dominant mental retardation 27" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 27" EXACT []
synonym: "CSS9" EXACT []
synonym: "IDDMOH" EXACT []
synonym: "intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 27" EXACT []
synonym: "MRD27" EXACT []
xref: MIM:615866
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:1925 ! Coffin-Siris syndrome

[Term]
id: DOID:0070058
name: Helsmoortel-Van Der Aa syndrome
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24531329 "DO"]
synonym: "ADNP-RELATED CONDITION" EXACT []
synonym: "ADNP-related syndromic intellectual disability-autism spectrum disorder" EXACT []
synonym: "ADNP syndrome" EXACT []
synonym: "autosomal dominant mental retardation 28" EXACT []
synonym: "HVDAS" EXACT []
synonym: "MRD28" EXACT []
xref: GARD:12931
xref: MIM:615873
xref: NCI:C160662
xref: ORDO:404448
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070059
name: autosomal dominant intellectual developmental disorder 29
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25217958 "DO"]
synonym: "autosomal dominant mental retardation 29" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 29" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 29" EXACT []
synonym: "MRD29" EXACT []
synonym: "SETBP1-RELATED CONDITION" BROAD []
synonym: "SETBP1-RELATED DISORDER" BROAD []
xref: MIM:616078
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070060
name: autosomal dominant intellectual developmental disorder 30
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25217958 "DO"]
synonym: "autosomal dominant intellectual developmental disorder-30 with speech delay and behavioral abnormalities" EXACT []
synonym: "autosomal dominant intellectual disability 30" EXACT []
synonym: "autosomal dominant mental retardation 30" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 30" EXACT []
synonym: "MRD30" EXACT []
xref: GARD:13136
xref: MIM:616083
xref: MONDO:0014486
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070061
name: autosomal dominant intellectual developmental disorder 31
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25439098 "DO"]
synonym: "autosomal dominant mental retardation 31" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 31" EXACT []
synonym: "GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME" EXACT []
synonym: "MRD31" EXACT []
synonym: "NEDRIHF" EXACT []
synonym: "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties" EXACT []
synonym: "PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION" EXACT []
synonym: "PURA SYNDROME" EXACT []
xref: MIM:616158
xref: MONDO:0014512
xref: ORDO:438216
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070062
name: Arboleda-Tham syndrome
alt_id: DOID:9008160
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25728775 "DO"]
synonym: "ARTHS" EXACT []
synonym: "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome" EXACT []
synonym: "autosomal dominant mental retardation 32" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 32" EXACT []
synonym: "KAT6A-RELATED CONDITION" EXACT []
synonym: "KAT6A-RELATED NEURODEVELOPMENTAL DISORDER WITH MULTIPLE ANOMALIES" EXACT []
synonym: "KAT6A syndrome" EXACT []
synonym: "MRD32" EXACT []
xref: MIM:616268
xref: ORDO:457193
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:0070063
name: autosomal dominant intellectual developmental disorder 33
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23832105 "DO"]
synonym: "autosomal dominant intellectual disability 33" EXACT []
synonym: "autosomal dominant mental retardation 33" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 33" EXACT []
synonym: "MRD33" EXACT []
xref: MIM:616311
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070064
name: autosomal dominant intellectual developmental disorder 34
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25533962 "DO"]
synonym: "autosomal dominant mental retardation 34" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 34" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 34" EXACT []
synonym: "MRD34" EXACT []
xref: MIM:616351
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070065
name: autosomal dominant intellectual developmental disorder 35
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25533962 "DO"]
synonym: "autosomal dominant mental retardation 35" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 35" EXACT []
synonym: "HJS1" EXACT []
synonym: "Hogue-Janssens syndrome 1" EXACT []
synonym: "INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME" EXACT []
synonym: "MRD35" EXACT []
synonym: "PPP2R5D-RELATED DISORDER" EXACT []
xref: MIM:616355
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070066
name: autosomal dominant intellectual developmental disorder 36
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25533962 "DO"]
synonym: "autosomal dominant mental retardation 36" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 36" EXACT []
synonym: "Houge-Janssen syndrome 2" EXACT []
synonym: "MICROCEPHALY-CORPUS CALLOSUM HYPOPLASIA-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME" EXACT []
synonym: "MRD36" EXACT []
synonym: "PPP2R1A-RELATED CONDITION" EXACT []
synonym: "PPP2R1A-RELATED DISORDER" EXACT []
synonym: "PPP2R1A-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
xref: MIM:616362
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070067
name: White-Sutton syndrome
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25533962 "DO"]
synonym: "autosomal dominant mental retardation 37" EXACT []
synonym: "INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME" EXACT []
synonym: "MRD37" EXACT []
synonym: "POGZ-RELATED CONDITION" EXACT []
synonym: "WHSUS" EXACT []
xref: EFO:0009079
xref: MIM:616364
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0070068
name: autosomal dominant intellectual developmental disorder 38
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24697219 "DO"]
synonym: "autosomal dominant mental retardation 38" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 38" EXACT []
synonym: "EEF1A2-RELATED DEVELOPMENTAL AND DEGENERATIVE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY" BROAD []
synonym: "MRD38" EXACT []
synonym: "PRELDS" EXACT []
synonym: "psychomotor retardation, epilepsy, and language disability syndrome" EXACT []
xref: MIM:616393
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070069
name: autosomal dominant intellectual developmental disorder 39
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23033978 "DO"]
synonym: "autosomal dominant mental retardation 39" EXACT []
synonym: "autosomal dominant mental retardation 39, and obesity" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 39" EXACT []
synonym: "CHROMOSOME 2p25.3 DELETION SYNDROME" NARROW []
synonym: "CHROMOSOME 2p25.3 DUPLICATION SYNDROME" NARROW []
synonym: "MRD39" EXACT []
xref: MIM:616521
xref: NCI:C156309
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070070
name: autosomal dominant intellectual developmental disorder 40
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25533962 "DO"]
synonym: "autosomal dominant mental retardation 40" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 40" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 40" EXACT []
synonym: "MRD40" EXACT []
synonym: "NEDHILD" EXACT []
synonym: "neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features" EXACT []
xref: MIM:616579
xref: NCI:C163754
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070071
name: autosomal dominant intellectual developmental disorder 41
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25102098 "DO"]
synonym: "autosomal dominant mental retardation 41" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 41" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 41" EXACT []
synonym: "MRD41" EXACT []
synonym: "TBL1XR1-RELATED CONDITION" BROAD []
synonym: "TBL1XR1-RELATED DISORDER" BROAD []
xref: MIM:616944
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070072
name: autosomal dominant intellectual developmental disorder 42
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27108799 "DO"]
synonym: "autosomal dominant mental retardation 42" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 42" EXACT []
synonym: "GLOBAL DEVELOPMENTAL DELAY-NEURO-OPHTHALMOLOGICAL ABNORMALITIES-SEIZURES-INTELLECTUAL DISABILITY SYNDROME" EXACT []
synonym: "MRD42" EXACT []
xref: MIM:616973
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070073
name: autosomal dominant intellectual developmental disorder 43
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27003583 "DO"]
synonym: "autosomal dominant mental retardation 43" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 43" EXACT []
synonym: "HIVEP2-RELATED CONDITION" EXACT []
synonym: "HIVEP2-related disorder" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 43" EXACT []
synonym: "MRD43" EXACT []
xref: MIM:616977
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070074
name: autosomal dominant intellectual developmental disorder 44
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26721934 "DO"]
synonym: "autosomal dominant intellectual developmental disorder 44 with microcephaly" EXACT []
synonym: "autosomal dominant mental retardation 44" EXACT []
synonym: "autosomal dominant non-syndromic intellectual disability 44" EXACT []
synonym: "Mercer-Ba syndrome" EXACT []
synonym: "MRD44" EXACT []
synonym: "TRIO-RELATED CONDITION" BROAD []
xref: MIM:617061
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0070077
name: schizophrenia 1
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14699422 "DO"]
synonym: "schizophrenia susceptibility locus, chromosome 5-related" EXACT []
synonym: "SCZD1" EXACT []
xref: MIM:181510
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070078
name: schizophrenia 2
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7490076 "DO"]
synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 11q-RELATED" EXACT []
synonym: "SCZD2" EXACT []
xref: MIM:603342
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070079
name: schizophrenia 3
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26814963 "DO"]
synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6-RELATED" EXACT []
synonym: "SCZD3" EXACT []
xref: MIM:600511
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070080
name: schizophrenia 4
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12217952 "DO"]
synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q11-RELATED" EXACT []
synonym: "SCZD4" EXACT []
xref: MIM:600850
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070081
name: schizophrenia 5
def: "A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15329799 "DO"]
synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6q-RELATED" EXACT []
synonym: "SCZD5" EXACT []
xref: MIM:603175
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070082
name: schizophrenia 6
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9731535 "DO"]
synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 8p-RELATED" EXACT []
synonym: "SCZD6" EXACT []
xref: MIM:603013
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070083
name: schizophrenia 7
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9731535 "DO"]
synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED" EXACT []
synonym: "SCZD7" EXACT []
xref: MIM:603176
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070084
name: schizophrenia 8
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9246509 "DO"]
synonym: "SCZD8" EXACT []
xref: MIM:603206
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070085
name: schizophrenia 9
def: "A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15197400 "DO"]
synonym: "schizophrenia 9 with or without an affective disorder" EXACT []
synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1q42-RELATED" EXACT []
synonym: "SCZD9" EXACT []
xref: MIM:604906
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070086
name: schizophrenia 10
def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11001582 "DO"]
synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q15-RELATED" EXACT []
synonym: "SCZD10" EXACT []
xref: MIM:605419
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5419 ! schizophrenia
is_a: DOID:9004807 ! Catatonic Schizophrenia

[Term]
id: DOID:0070087
name: schizophrenia 11
def: "A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12929083 "DO"]
synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 10q-RELATED" RELATED []
synonym: "SCZD11" EXACT []
xref: MIM:608078
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070088
name: schizophrenia 12
def: "A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14750073 "DO"]
synonym: "SCZD12" EXACT []
xref: MIM:608543
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070089
name: schizophrenia 13
def: "A schizophrenia that has_material_basis_in a mutation on chromosome 15q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9012828 "DO"]
synonym: "schizophrenia susceptibility locus, chromosome 15q13-q14-related" RELATED []
synonym: "SCZD13" EXACT []
xref: MIM:613025
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070090
name: schizophrenia 14
def: "A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18677311 "DO"]
synonym: "schizophrenia susceptibility locus, chromosome 2q32-related" EXACT []
synonym: "SCZD14" EXACT []
xref: MIM:612361
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070091
name: schizophrenia 15
def: "A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20385823 "DO"]
synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED" RELATED []
synonym: "SCZD15" EXACT []
synonym: "SHANK3-related disorder" BROAD []
xref: MIM:613950
xref: MONDO:0013498
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070092
name: schizophrenia 16
def: "A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21346763 "DO"]
synonym: "SCZD16" EXACT []
xref: MIM:613959
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070093
name: schizophrenia 18
def: "A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23341099 "DO"]
synonym: "chromosome 7q36.3 duplication syndrome, 362-Kb" RELATED []
synonym: "schizophrenia susceptibility 18" EXACT []
synonym: "SCZD18" EXACT []
xref: MIM:615232
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0070094
name: oculocutaneous albinism type IA
alt_id: MIM:203100
def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8477259 "DO"]
synonym: "albinism 1" EXACT []
synonym: "albinism I" EXACT []
synonym: "ATN" EXACT []
synonym: "OCA1" EXACT []
synonym: "OCA1A" EXACT []
synonym: "Oculocutaneous Albinism Type 1" EXACT []
synonym: "oculocutaneous albinism type 1A" EXACT []
synonym: "oculocutaneous albinism, type I" EXACT []
synonym: "oculocutaneous albinism, tyrosinase negative" EXACT []
xref: MESH:C537728
xref: NCI:C168731
is_a: DOID:9005389 ! Oculocutaneous Albinism Type I, Temperature-Sensitive

[Term]
id: DOID:0070095
name: oculocutaneous albinism type IB
alt_id: MIM:606952
def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18925668 "DO"]
synonym: "albinism, yellow mutant type" EXACT []
synonym: "OCA1B" EXACT []
synonym: "OCA1-TS" NARROW []
synonym: "oculocutaneous albinism type 1B" EXACT []
synonym: "oculocutaneous albinism type I, temperature-sensitive" NARROW []
synonym: "yellow albinism" EXACT []
xref: MESH:C537729
is_a: DOID:0080578 ! digenic disease
is_a: DOID:9005389 ! Oculocutaneous Albinism Type I, Temperature-Sensitive

[Term]
id: DOID:0070096
name: oculocutaneous albinism type II
alt_id: MIM:203200
alt_id: OMIA:002130
def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18680187 "DO"]
synonym: "albinism 2" EXACT []
synonym: "ALBINISM, BROWN OCULOCUTANEOUS" RELATED []
synonym: "albinism II" EXACT []
synonym: "ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF" RELATED []
synonym: "Albinoidism" EXACT []
synonym: "BOCA" RELATED []
synonym: "BROWN OCULOCUTANEOUS ALBINISM" RELATED []
synonym: "OCA2" EXACT []
synonym: "OCA2-RELATED CONDITION" EXACT []
synonym: "oculocutaneous albinism type 2" EXACT []
synonym: "oculocutaneous albinism tyrosinase positive" EXACT []
xref: GARD:4038
xref: MESH:C537730
is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism

[Term]
id: DOID:0070097
name: oculocutaneous albinism type III
alt_id: MIM:203290
def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9345097 "DO"]
synonym: "albinism 3" EXACT []
synonym: "albinism III" EXACT []
synonym: "OCA3" EXACT []
synonym: "Oculocutaneous Albinism Type 3" EXACT []
synonym: "ROCA" EXACT []
synonym: "Rufous OCA" EXACT []
synonym: "rufous oculocutaneous albinism" EXACT []
synonym: "TYRP1-RELATED CONDITION" EXACT []
synonym: "xanthism" EXACT []
xref: GARD:4039
xref: MESH:C537189
is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism

[Term]
id: DOID:0070098
name: oculocutaneous albinism type IV
alt_id: MIM:606574
alt_id: OMIA:001821
def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14722913 "DO"]
synonym: "OCA4" EXACT []
synonym: "oculocutaneous albinism type 4" EXACT []
synonym: "SLC45A2-RELATED CONDITION" EXACT []
xref: MESH:C564696
is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism

[Term]
id: DOID:0070099
name: oculocutaneous albinism type V
def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23050561 "DO"]
synonym: "OCA5" EXACT []
synonym: "oculocutaneous albinism type 5" EXACT []
xref: MIM:615312
is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism

[Term]
id: DOID:0070100
name: oculocutaneous albinism type VII
def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23395477 "DO"]
synonym: "OCA7" EXACT []
synonym: "oculocutaneous albinism type 7" EXACT []
xref: MIM:615179
is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism

[Term]
id: DOID:0070111
name: Niemann-Pick disease type A
alt_id: MIM:257200
def: "A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13696518 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19405096 "DO"]
synonym: "acid sphingomyelinase deficiency, neurovisceral type" EXACT []
synonym: "classical Niemann Pick disease" EXACT []
synonym: "neuronal cholesterol lipidoses" EXACT []
synonym: "neuronal cholesterol lipidosis" EXACT []
synonym: "Niemann Pick's disease type A" EXACT []
synonym: "Niemann Pick disease, acute neuronopathic form" EXACT []
synonym: "Niemann Pick disease, acute neurovisceral form" EXACT []
synonym: "Niemann Pick disease, neuronopathic type" EXACT []
synonym: "SMPD1-RELATED CONDITION" BROAD []
synonym: "sphingomyelin/cholesterol lipidosis" EXACT []
synonym: "sphingomyelin cholesterol lipidoses" EXACT []
synonym: "sphingomyelin lipidoses" EXACT []
synonym: "sphingomyelin lipidosis" EXACT []
synonym: "supraoptic vertical ophthalmoplegia" EXACT []
synonym: "supraoptic vertical ophthalmoplegias" EXACT []
xref: GARD:7206
xref: MESH:D052536
xref: MONDO:0009756
xref: NCI:C126561
is_a: DOID:14504 ! Niemann-Pick disease

[Term]
id: DOID:0070112
name: Niemann-Pick disease type B
alt_id: MESH:C564366
alt_id: MIM:607616
def: "A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12369017 "DO", https://www.ncbi.nlm.nih.gov/pubmed/13696518 "DO"]
synonym: "acid sphingomyelinase deficiency, visceral type" EXACT []
synonym: "Niemann Pick's disease type B" EXACT []
synonym: "Niemann Pick's disease type E" NARROW []
synonym: "Niemann Pick disease, adult non neuronopathic" EXACT []
synonym: "NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION" NARROW []
synonym: "Niemann Pick Disease, Non Neuronopathic Type" EXACT []
synonym: "Niemann-Pick disease, type E" NARROW []
synonym: "Niemann-Pick disease, type F" NARROW []
synonym: "Niemann Pick disease, visceral" EXACT []
synonym: "SMPD1-RELATED CONDITION" BROAD []
synonym: "sphingomyelin/cholesterol lipidosis" EXACT []
xref: GARD:10729
xref: MESH:D052537
xref: NCI:C126866
is_a: DOID:14504 ! Niemann-Pick disease

[Term]
id: DOID:0070113
name: Niemann-Pick disease type C1
alt_id: MIM:257220
def: "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11182931 "DO"]
synonym: "Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia" EXACT []
synonym: "NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NIEMANN-PICK DISEASE, TYPE D" NARROW []
synonym: "Niemann-Pick's disease type C" BROAD []
synonym: "Niemann Pick Disease, Chronic Neuronopathic Form" EXACT []
synonym: "Niemann Pick disease, Subacute Juvenile Form" EXACT []
synonym: "Niemann-Pick disease, type C" BROAD []
synonym: "Niemann-Pick disease type C1, adult form" EXACT []
synonym: "Niemann-Pick disease type C1, juvenile form" EXACT []
synonym: "Niemann-Pick disease with cholesterol esterification block" EXACT []
synonym: "Niemann-Pick disease without sphingomyelinase deficiency" EXACT []
synonym: "NPC" BROAD []
synonym: "NPC1" EXACT []
synonym: "NPC1-RELATED CONDITION" BROAD []
xref: GARD:7207
xref: MESH:D052556
xref: NCI:C126864
is_a: DOID:14504 ! Niemann-Pick disease

[Term]
id: DOID:0070114
name: Niemann-Pick disease type C2
def: "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17470133 "DO"]
synonym: "Niemann-Pick disease C2" EXACT []
synonym: "NPC2" EXACT []
synonym: "NPC2-RELATED CONDITION" EXACT []
xref: GARD:3992
xref: MESH:C536119
xref: MIM:607625
xref: MONDO:0011873
xref: NCI:C126865
is_a: DOID:14504 ! Niemann-Pick disease

[Term]
id: DOID:0070115
name: Meckel syndrome 1
alt_id: MIM:249000
def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16415886 "DO"]
synonym: "dysencephalia splachnocystica" EXACT []
synonym: "dysencephalia splanchnocystica" EXACT []
synonym: "Gruber syndrome" EXACT []
synonym: "Meckel-Gruber syndrome, type 1" EXACT []
synonym: "Meckel syndrome type 1" EXACT []
synonym: "Meckel syndrome type1" EXACT []
synonym: "MES" EXACT []
synonym: "MKS" EXACT []
synonym: "MKS1" EXACT []
xref: MESH:C536133
is_a: DOID:0050778 ! Meckel syndrome
is_a: DOID:0080322 ! polycystic kidney disease
is_a: DOID:9000983 ! Encephalocele
is_a: DOID:9001591 ! Ciliary Motility Disorders

[Term]
id: DOID:0070116
name: Meckel syndrome 2
alt_id: MIM:603194
def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20512146 "DO"]
synonym: "Meckel-Gruber syndrome, type 2" EXACT []
synonym: "Meckel syndrome type 2" EXACT []
synonym: "MKS2" EXACT []
xref: ICD10CM:Q61.9
xref: MESH:C536131
is_a: DOID:0050778 ! Meckel syndrome
is_a: DOID:0080322 ! polycystic kidney disease
is_a: DOID:9000983 ! Encephalocele
is_a: DOID:9001591 ! Ciliary Motility Disorders

[Term]
id: DOID:0070117
name: Meckel syndrome 3
alt_id: MIM:607361
def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16415887 "DO"]
synonym: "Meckel-Gruber Syndrome, Type 3" EXACT []
synonym: "Meckel syndrome type 3" EXACT []
synonym: "MKS3" EXACT []
xref: MESH:C536132
is_a: DOID:0050778 ! Meckel syndrome
is_a: DOID:0080322 ! polycystic kidney disease
is_a: DOID:9000983 ! Encephalocele
is_a: DOID:9001591 ! Ciliary Motility Disorders

[Term]
id: DOID:0070118
name: Meckel syndrome 4
alt_id: MIM:611134
def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17564974 "DO"]
synonym: "CEP290-related disorder" BROAD []
synonym: "Meckel-Gruber Syndrome, Type 4" EXACT []
synonym: "MECKEL-LIKE CEREBRORENODIGITAL SYNDROME" NARROW []
synonym: "Meckel syndrome type 4" EXACT []
synonym: "MKS4" EXACT []
xref: MESH:C567003
is_a: DOID:0050778 ! Meckel syndrome
is_a: DOID:0080322 ! polycystic kidney disease
is_a: DOID:1148 ! polydactyly
is_a: DOID:9000983 ! Encephalocele

[Term]
id: DOID:0070119
name: Meckel syndrome 5
alt_id: MIM:611561
def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17558409 "DO"]
synonym: "Meckel-Gruber syndrome, type 5" EXACT []
synonym: "Meckel syndrome type 5" EXACT []
synonym: "MKS5" EXACT []
xref: MESH:C566915
is_a: DOID:0050778 ! Meckel syndrome
is_a: DOID:0080322 ! polycystic kidney disease
is_a: DOID:9000983 ! Encephalocele

[Term]
id: DOID:0070120
name: Meckel syndrome 6
alt_id: MIM:612284
def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18513680 "DO"]
synonym: "CC2D2A-RELATED DISORDER" BROAD []
synonym: "Meckel-Gruber syndrome, type 6" EXACT []
synonym: "Meckel syndrome, type 6" EXACT []
synonym: "MKS6" EXACT []
xref: MESH:C567365
is_a: DOID:0050778 ! Meckel syndrome
is_a: DOID:0080322 ! polycystic kidney disease
is_a: DOID:9000983 ! Encephalocele

[Term]
id: DOID:0070121
name: Meckel syndrome 7
alt_id: MIM:267010
def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18371931 "DO"]
synonym: "Goldston syndrome" EXACT []
synonym: "Meckel-Gruber syndrome, type 7" EXACT []
synonym: "Meckel like syndrome" EXACT []
synonym: "Meckel syndrome, type 7" EXACT []
synonym: "MKS7" EXACT []
synonym: "renal hepatic pancreatic dysplasia, Dandy Walker cyst" EXACT []
synonym: "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst" EXACT []
xref: MESH:C537756
xref: ORDO:3032
is_a: DOID:0050778 ! Meckel syndrome
is_a: DOID:0060259 ! renal-hepatic-pancreatic dysplasia
is_a: DOID:9005686 ! Dandy Walker Cyst
is_a: DOID:9006554 ! Pancreatic Cyst

[Term]
id: DOID:0070122
name: Meckel syndrome 8
def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21462283 "DO"]
synonym: "Meckel-Gruber syndrome, type 8" EXACT []
synonym: "Meckel syndrome type 8" EXACT []
synonym: "MKS8" EXACT []
synonym: "TCTN2-related disorder" BROAD []
synonym: "TCTN2-related disorders" BROAD []
xref: MIM:613885
xref: MONDO:0013482
xref: ORDO:90674
is_a: DOID:0050778 ! Meckel syndrome

[Term]
id: DOID:0070123
name: congenital nongoitrous hypothyroidism 4
def: "A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2792087 "DO"]
synonym: "CHNG4" EXACT []
synonym: "deficiency of thyroid-stimulating hormone" EXACT []
synonym: "isolated thyrotropin deficiency" EXACT []
synonym: "pituitary cretinism" EXACT []
synonym: "pituitary cretinism thyrotropin, biologically inactive" NARROW []
xref: ICD10CM:E03.1
xref: MIM:275100
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism

[Term]
id: DOID:0070124
name: congenital nongoitrous hypothyroidism 2
alt_id: MIM:218700
def: "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9590296 "DO"]
synonym: "Athyreotic Hypothyroidism" EXACT []
synonym: "CHNG2" EXACT []
synonym: "congenital hypothyroidism due to thyroid dysgenesis" EXACT []
synonym: "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia" EXACT []
synonym: "ectopic thyroid" RELATED []
xref: MESH:C566852
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:8433 ! thyroid malformation
is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism

[Term]
id: DOID:0070125
name: congenital nongoitrous hypothyroidism 5
alt_id: MIM:225250
def: "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16418214 "DO"]
synonym: "CHNG5" EXACT []
xref: MESH:C567123
xref: ORDO:90673
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism

[Term]
id: DOID:0070126
name: congenital nongoitrous hypothyroidism 1
def: "A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8954020 "DO"]
synonym: "CHNG1" EXACT []
synonym: "Hypothyroidism, Nonautoimmune" EXACT []
xref: MESH:C576976
xref: MIM:275200
xref: MONDO:0010142
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism

[Term]
id: DOID:0070127
name: congenital nongoitrous hypothyroidism 3
def: "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15870119 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8976668 "DO"]
synonym: "CHNG3" EXACT []
xref: MESH:C567935
xref: MIM:609893
xref: MONDO:0012360
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism

[Term]
id: DOID:0070128
name: congenital nongoitrous hypothyroidism 6
def: "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22168587 "DO"]
synonym: "CHNG6" EXACT []
xref: MIM:614450
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism

[Term]
id: DOID:0070129
name: autosomal recessive cutis laxa type IID
def: "An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28065471 "DO"]
synonym: "ARCL2D" EXACT []
xref: MIM:617403
is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type

[Term]
id: DOID:0070130
name: autosomal dominant cutis laxa 1
alt_id: RDO:0007941
def: "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9580666 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9873040 "DO"]
synonym: "ADCL1" EXACT []
synonym: "ELN-RELATED CONDITION" BROAD []
xref: MIM:123700
is_a: DOID:0070142 ! autosomal dominant cutis laxa

[Term]
id: DOID:0070131
name: autosomal dominant cutis laxa 3
def: "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26320891 "DO"]
synonym: "ADCL3" EXACT []
xref: MIM:616603
xref: RDO:9001420
is_a: DOID:0070142 ! autosomal dominant cutis laxa

[Term]
id: DOID:0070132
name: autosomal recessive cutis laxa type IIIA
def: "A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11092761 "DO"]
synonym: "ARCL3A" EXACT []
synonym: "CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION" EXACT []
synonym: "CUTIS LAXA-CORNEAL CLOUDING-OLIGOPHRENIA SYNDROME" EXACT []
synonym: "DE BARSY SYNDROME A" EXACT []
xref: MIM:219150
xref: ORDO:35664
is_a: DOID:0070143 ! autosomal recessive cutis laxa type III

[Term]
id: DOID:0070133
name: autosomal recessive cutis laxa type IB
alt_id: RDO:9000260
def: "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16685658 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19664000 "DO"]
synonym: "ARCL1B" EXACT []
synonym: "AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1B" EXACT []
xref: MIM:614437
is_a: DOID:0070144 ! autosomal recessive cutis laxa type I

[Term]
id: DOID:0070134
name: autosomal recessive cutis laxa type IIA
alt_id: MIM:219200
def: "An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18157129 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19401719 "DO"]
synonym: "ARCL2" EXACT []
synonym: "ARCL2A" EXACT []
synonym: "cutis laxa, Debre type" EXACT []
synonym: "Cutis Laxa With Bone Dystrophy" EXACT []
synonym: "CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION" EXACT []
synonym: "Cutis Laxa With Growth And Developmental Delay" EXACT []
synonym: "Cutis Laxa With Joint Laxity And Retarded Development" EXACT []
synonym: "cutis laxa with or without congenital disorder of glycosylation" EXACT []
synonym: "CUTIS LAXA WITH OSTEODYSTROPHY" EXACT []
xref: MESH:C562632
is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type

[Term]
id: DOID:0070135
name: autosomal recessive cutis laxa type IA
alt_id: RDO:0008262
def: "An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12189163 "DO"]
synonym: "ARCL1" EXACT []
synonym: "ARCL1A" EXACT []
synonym: "autosomal recessive cutis laxa type 1A" EXACT []
xref: MIM:219100
is_a: DOID:0070144 ! autosomal recessive cutis laxa type I

[Term]
id: DOID:0070136
name: autosomal dominant cutis laxa 2
alt_id: RDO:9000259
def: "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12618961 "DO"]
synonym: "ADCL2" EXACT []
xref: MIM:614434
is_a: DOID:0070142 ! autosomal dominant cutis laxa

[Term]
id: DOID:0070137
name: autosomal recessive cutis laxa type IIB
alt_id: MIM:612940
def: "A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19576563 "DO"]
synonym: "ARCL2B" EXACT []
synonym: "ARCL2, progeroid type" EXACT []
synonym: "autosomal recessive cutis laxa type 2B" EXACT []
synonym: "Cutis Laxa With Progeroid Features" EXACT []
synonym: "PYCR1-RELATED CONDITION" BROAD []
xref: MESH:C567855
xref: ORDO:357064
is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type

[Term]
id: DOID:0070138
name: autosomal recessive cutis laxa type IIIB
def: "An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19648921 "DO"]
synonym: "ARCL3B" EXACT []
synonym: "De Barsy syndrome B" EXACT []
synonym: "PYCR1-RELATED CONDITION" BROAD []
xref: MIM:614438
is_a: DOID:0070143 ! autosomal recessive cutis laxa type III

[Term]
id: DOID:0070139
name: autosomal recessive cutis laxa type IC
alt_id: MIM:613177
def: "A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19836010 "DO"]
synonym: "ARCL1C" EXACT []
synonym: "autosomal recessive cutis laxa type 1C" EXACT []
synonym: "cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities" EXACT []
synonym: "Urban-Rifkin-Davis syndrome" EXACT []
synonym: "URDS" EXACT []
xref: MESH:C567716
xref: ORDO:221145
is_a: DOID:0070144 ! autosomal recessive cutis laxa type I
is_a: DOID:1222 ! cartilage disease
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:18 ! urinary system disease
is_a: DOID:77 ! gastrointestinal system disease

[Term]
id: DOID:0070140
name: autosomal recessive cutis laxa type IIC
alt_id: DOID:9003003
def: "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28065471 "DO"]
synonym: "ARCL2C" EXACT []
xref: MIM:617402
is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type

[Term]
id: DOID:0070141
name: autosomal recessive cutis laxa type II classic type
def: "A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28065471 "DO"]
synonym: "ARCL2, classic type" EXACT []
synonym: "ARCL2, Debre type" EXACT []
xref: ORDO:357074
is_a: DOID:9002034 ! Autosomal Recessive Cutis Laxa

[Term]
id: DOID:0070142
name: autosomal dominant cutis laxa
def: "A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18348261 "DO"]
synonym: "ADCL" EXACT []
synonym: "dominant cutis laxa" EXACT []
xref: MESH:C562627
xref: ORDO:90348
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3144 ! cutis laxa

[Term]
id: DOID:0070143
name: autosomal recessive cutis laxa type III
def: "A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18388779 "DO"]
synonym: "corneal clouding, cutis laxa, mental retardation" EXACT []
synonym: "cutis laxa, corneal clouding, and mental retardation" EXACT []
synonym: "cutis laxa-corneal clouding-intellectual disability syndrome" EXACT []
synonym: "De Barsy Moens Diercks syndrome" EXACT []
synonym: "De Barsy syndrome" EXACT []
synonym: "progeroid syndrome of De Barsy" EXACT []
xref: GARD:49
xref: MESH:C535990
xref: ORDO:2962
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9002034 ! Autosomal Recessive Cutis Laxa
is_a: DOID:9008606 ! Corneal Opacity

[Term]
id: DOID:0070144
name: autosomal recessive cutis laxa type I
alt_id: DOID:9008926
alt_id: RDO:0012256
def: "A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19401719 "DO"]
synonym: "autosomal recessive cutis laxa, I" EXACT []
synonym: "autosomal recessive cutis laxa type 1" EXACT []
xref: GARD:8480
xref: MESH:C562628
xref: ORDO:90439
is_a: DOID:9002034 ! Autosomal Recessive Cutis Laxa

[Term]
id: DOID:0070145
name: hereditary sensory and autonomic neuropathy type 5
alt_id: MIM:608654
def: "A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14976160 "DO", https://www.ncbi.nlm.nih.gov/pubmed/77656 "DO"]
synonym: "congenital sensory neuropathy with selective loss of small myelinated fibers" EXACT []
synonym: "hereditary sensory and autonomic neuropathy, type V" EXACT []
synonym: "hereditary sensory autonomic neuropathy, type 5" EXACT []
synonym: "HSAN 5" EXACT []
synonym: "HSAN5" EXACT []
synonym: "HSAN Type V" EXACT []
synonym: "HSAN V" EXACT []
xref: GARD:12328
xref: NCI:C125386
xref: NCI:C156360
xref: ORDO:608654
is_a: DOID:0050548 ! hereditary sensory neuropathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9008482 ! Congenital Pain Insensitivity

[Term]
id: DOID:0070146
name: hereditary sensory neuropathy type 4
def: "A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14272277 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8696348 "DO"]
synonym: "CIPA" EXACT []
synonym: "congenital insensitivity to pain with anhidrosis" EXACT []
synonym: "congenital pain insensitivity with anhidrosis" EXACT []
synonym: "congenital sensory neuropathy with anhidrosis" EXACT []
synonym: "familial dysautonomia, type II" EXACT []
synonym: "hereditary sensory and autonomic neuropathy 4" EXACT []
synonym: "hereditary sensory and autonomic neuropathy IV" EXACT []
synonym: "hereditary sensory and autonomic neuropathy, type 4" EXACT []
synonym: "hereditary sensory and autonomic neuropathy, type IV" EXACT []
synonym: "hereditary sensory autonomic neuropathy, type 4" EXACT []
synonym: "hereditary sensory neuropathy type IV" EXACT []
synonym: "HSAN 4" EXACT []
synonym: "HSAN4" EXACT []
synonym: "HSAN IV" EXACT []
synonym: "HSAN type IV" EXACT []
xref: GARD:3006
xref: MIM:256800
xref: NCI:C118633
xref: ORDO:642
is_a: DOID:0050548 ! hereditary sensory neuropathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11156 ! anhidrosis
is_a: DOID:9008482 ! Congenital Pain Insensitivity

[Term]
id: DOID:0070147
name: hereditary sensory neuropathy type 2C
alt_id: RDO:9000616
def: "A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21820098 "DO"]
synonym: "hereditary sensory and autonomic neuropathy, type IIC" EXACT []
synonym: "hereditary sensory neuropathy, type IIC" EXACT []
synonym: "HSN2C" EXACT []
xref: MIM:614213
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2

[Term]
id: DOID:0070148
name: hereditary sensory neuropathy type 1B
alt_id: MIM:608088
alt_id: RDO:0013310
def: "A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12870133 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16311270 "DO"]
synonym: "hereditary sensory and autonomic neuropathy, type IB" EXACT []
synonym: "hereditary sensory and autonomic neuropathy, type I, with cough and gastroesophageal reflux" EXACT []
synonym: "hereditary sensory neuropathy, type IB" EXACT []
synonym: "HSAN1B" EXACT []
synonym: "HSAN with cough and gastroesophageal reflux" EXACT []
synonym: "HSN1B" EXACT []
xref: MESH:C564296
xref: ORDO:139564
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1
is_a: DOID:8534 ! gastroesophageal reflux disease
is_a: DOID:9007073 ! Cough

[Term]
id: DOID:0070149
name: hereditary sensory and autonomic neuropathy type 7
def: "A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24036948 "DO"]
synonym: "congenital insensitivity to pain with gastrointestinal dysfunction and hyperhidrosis" EXACT []
synonym: "hereditary sensory and autonomic neuropathy, type VII" EXACT []
synonym: "HSAN7" EXACT []
synonym: "HSAN VII" EXACT []
xref: GARD:12723
xref: ICD10CM:G60.8
xref: MIM:615548
xref: NCI:C125388
xref: ORDO:391397
is_a: DOID:0050548 ! hereditary sensory neuropathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0070150
name: hereditary sensory and autonomic neuropathy type 2B
alt_id: OMIA:002032
def: "A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19838196 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24327336 "DO"]
synonym: "hereditary sensory and autonomic neuropathy, type IIB" EXACT []
synonym: "HSAN2B" EXACT []
xref: MIM:613115
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2

[Term]
id: DOID:0070151
name: hereditary sensory and autonomic neuropathy type 6
def: "A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22522446 "DO"]
synonym: "hereditary sensory and autonomic neuropathy, type VI" EXACT []
synonym: "HSAN6" EXACT []
synonym: "HSAN VI" EXACT []
xref: MIM:614653
xref: MONDO:0013839
xref: ORDO:314381
is_a: DOID:0050548 ! hereditary sensory neuropathy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070152
name: hereditary sensory and autonomic neuropathy type 1A
def: "A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11242114 "DO"]
synonym: "hereditary sensory and autonomic neuropathy, type IA" EXACT []
synonym: "hereditary sensory and autonomic neuropathy type IA, severe" EXACT []
synonym: "hereditary sensory and autonomic neuropathy type I, severe" EXACT []
synonym: "hereditary sensory neuropathy type IA" EXACT []
synonym: "hereditary sensory radicular neuropathy, autosomal dominant, type 1A" EXACT []
synonym: "HSAN1A" EXACT []
synonym: "HSAN IA" EXACT []
synonym: "HSN1A" EXACT []
synonym: "HSN IA" EXACT []
xref: MIM:162400
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1

[Term]
id: DOID:0070153
name: hereditary sensory and autonomic neuropathy type 8
def: "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26005867 "DO"]
synonym: "hereditary sensory and autonomic neuropathy, type VIII" EXACT []
synonym: "HSAN8" EXACT []
synonym: "HSAN VIII" EXACT []
xref: MIM:616488
xref: ORDO:478664
is_a: DOID:0050548 ! hereditary sensory neuropathy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070154
name: hereditary sensory neuropathy type 1F
def: "A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24459106 "DO"]
synonym: "hereditary sensory neuropathy type IF" EXACT []
synonym: "HSN 1F" EXACT []
synonym: "HSN1F" EXACT []
synonym: "HSN IF" EXACT []
xref: MIM:615632
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1

[Term]
id: DOID:0070155
name: hereditary sensory and autonomic neuropathy type 2A
def: "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14152533 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15060842 "DO"]
synonym: "acroosteolysis, Giaccai type" EXACT []
synonym: "hereditary sensory and autonomic neuropathy, type IIA" EXACT []
synonym: "hereditary sensory neuropathy, type IIA" EXACT []
synonym: "HSAN2A" EXACT []
synonym: "HSAN IIA" EXACT []
synonym: "HSN2A" EXACT []
synonym: "HSN IIA" EXACT []
synonym: "Morvan disease" RELATED []
synonym: "neurogenic acroosteolysis" EXACT []
synonym: "progressive sensory neuropathy, of children" EXACT []
xref: MIM:201300
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2

[Term]
id: DOID:0070156
name: hereditary sensory neuropathy type 1D
def: "A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21194679 "DO"]
synonym: "hereditary sensory neuropathy type ID" EXACT []
synonym: "HSN1D" EXACT []
xref: MIM:613708
xref: MONDO:0013381
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1

[Term]
id: DOID:0070157
name: hereditary sensory and autonomic neuropathy type 1C
alt_id: RDO:0009923
def: "A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20920666 "DO"]
synonym: "hereditary sensory and autonomic neuropathy, type IC" EXACT []
synonym: "hereditary sensory and autonomic neuropathy, type IC, severe" EXACT []
synonym: "hereditary sensory neuropathy, type IC" EXACT []
synonym: "HSAN1C" EXACT []
synonym: "HSAN IC" EXACT []
synonym: "HSN1C" EXACT []
synonym: "HSN IC" EXACT []
xref: MIM:613640
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1

[Term]
id: DOID:0070158
name: hereditary sensory neuropathy type 1E
alt_id: MIM:614116
alt_id: RDO:0015895
def: "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21532572 "DO"]
synonym: "dementia, deafness, and sensory neuropathy" EXACT []
synonym: "DNMT1-related dementia, deafness, and sensory neuropathy" EXACT []
synonym: "hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss" EXACT []
synonym: "hereditary sensory and autonomic neuropathy, type IE" EXACT []
synonym: "hereditary sensory neuropathy type IE" EXACT []
synonym: "hereditary sensory neuropathy with hearing loss and dementia" EXACT []
synonym: "HSN1E" EXACT []
synonym: "HSN IE" EXACT []
synonym: "HSNIE" EXACT []
xref: GARD:11927
xref: MESH:C580162
xref: ORDO:456318
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1

[Term]
id: DOID:0070159
name: hereditary sensory neuropathy X-linked
alt_id: MIM:310470
alt_id: RDO:0013164
def: "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3866836 "DO"]
xref: MESH:C564090
is_a: DOID:0050548 ! hereditary sensory neuropathy
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0070160
name: atypical hereditary sensory neuropathy
alt_id: RDO:0013735
def: "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/191348 "DO"]
xref: MESH:C564946
xref: MIM:256860
is_a: DOID:0050548 ! hereditary sensory neuropathy

[Term]
id: DOID:0070161
name: hereditary sensory and autonomic neuropathy type 2
def: "A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21089229 "DO"]
synonym: "hereditary sensory and autonomic neuropathy, type II" EXACT []
synonym: "hereditary sensory neuropathy, type II" EXACT []
synonym: "HSAN 2" EXACT []
synonym: "HSAN2" EXACT []
synonym: "HSAN II" EXACT []
synonym: "HSANII" EXACT []
xref: GARD:3976
xref: MESH:C567738
xref: ORDO:970
is_a: DOID:0050548 ! hereditary sensory neuropathy

[Term]
id: DOID:0070162
name: hereditary sensory and autonomic neuropathy type 1
def: "A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18348718 "DO"]
synonym: "hereditary sensory and autonomic neuropathy type I" EXACT []
synonym: "HSAN1" EXACT []
xref: GARD:6635
xref: NCI:C170433
xref: ORDO:36386
is_a: DOID:0050548 ! hereditary sensory neuropathy

[Term]
id: DOID:0070163
name: spermatogenic failure 21
def: "A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28199965 "DO"]
synonym: "SPGF21" EXACT []
xref: MIM:617644
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa

[Term]
id: DOID:0070164
name: spermatogenic failure 2
def: "A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in inversions on chromosome 1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15367911 "DO"]
synonym: "ASG" EXACT []
synonym: "aspermiogenesis factor" EXACT []
synonym: "SPGF2" EXACT []
xref: MIM:108420
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0070165
name: spermatogenic failure 18
def: "A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24360805 "DO"]
synonym: "SPGF18" EXACT []
xref: MIM:617576
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0070166
name: spermatogenic failure 20
def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28552195 "DO"]
synonym: "SPGF20" EXACT []
xref: MIM:617593
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0070167
name: spermatogenic failure 6
def: "A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17847006 "DO"]
synonym: "acrosome malformation of spermatozoa" EXACT []
synonym: "globozoospermia" BROAD []
synonym: "round-headed spermatozoa" EXACT []
synonym: "SPGF6" EXACT []
xref: MIM:102530
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112312 ! male infertility due to globozoospermia

[Term]
id: DOID:0070168
name: spermatogenic failure 3
def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23582645 "DO"]
synonym: "non-obstructive azoospermia" EXACT []
synonym: "nonobstructive azoospermia" EXACT []
synonym: "SPGF3" EXACT []
xref: MESH:C564665
xref: MIM:606766
xref: MONDO:0011720
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia

[Term]
id: DOID:0070169
name: spermatogenic failure 8
def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20887963 "DO"]
synonym: "SPGF8" EXACT []
xref: MIM:613957
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0070170
name: spermatogenic failure 19
def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28552195 "DO"]
synonym: "SPGF19" EXACT []
xref: MIM:617592
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0070171
name: spermatogenic failure 12
def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23315541 "DO"]
synonym: "SPGF12" EXACT []
xref: MIM:615413
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0070172
name: spermatogenic failure 15
def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25899990 "DO"]
synonym: "SPGF15" EXACT []
xref: MIM:616950
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia

[Term]
id: DOID:0070173
name: spermatogenic failure 7
alt_id: MESH:C579978
alt_id: MIM:612997
def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19344877 "DO"]
synonym: "CATSPER1-related male infertility" EXACT []
synonym: "CATSPER1-related nonsyndromic male infertility" EXACT []
synonym: "CATSPER-related nonsyndromic male infertility" EXACT []
synonym: "MIAR" EXACT []
synonym: "nonsyndromic male infertility, autosomal recessive" EXACT []
synonym: "SPGF7" EXACT []
xref: MESH:C567832
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:9001513 ! Asthenozoospermia

[Term]
id: DOID:0070174
name: spermatogenic failure 17
def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26721930 "DO"]
synonym: "male infertility due to oocyte activation failure" EXACT []
synonym: "SPGF17" EXACT []
xref: MIM:617214
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0070176
name: spermatogenic failure 4
def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14643120 "DO"]
synonym: "Arrest of Spermatogenesis" EXACT []
synonym: "Azoospermia Due To Perturbations Of Meiosis" EXACT []
synonym: "Azoospermia With Maturation Arrest" EXACT []
synonym: "EARLY SPERMATOGENESIS MATURATION ARREST" NARROW []
synonym: "recurrent pregnancy loss 4" RELATED []
synonym: "RPRGL4" RELATED []
synonym: "Spermatogenesis arrest" EXACT []
synonym: "SPERMATOGENESIS MATURATION ARREST" EXACT []
synonym: "SPGF4" EXACT []
xref: MESH:C536875
xref: MIM:270960
xref: MONDO:0010052
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia

[Term]
id: DOID:0070177
name: spermatogenic failure 22
def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28206990 "DO"]
synonym: "SPGF22" EXACT []
xref: MIM:617706
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia

[Term]
id: DOID:0070178
name: spermatogenic failure 10
def: "A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22275165 "DO"]
synonym: "spermatogenic failure with defective sperm annulus" EXACT []
synonym: "SPGF10" EXACT []
xref: MIM:614822
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0070179
name: spermatogenic failure 14
def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24431330 "DO"]
synonym: "SPGF14" EXACT []
xref: MIM:615842
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia

[Term]
id: DOID:0070180
name: spermatogenic failure 11
def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17047026 "DO"]
synonym: "SPGF11" EXACT []
xref: MIM:615081
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0070181
name: spermatogenic failure 23
alt_id: OMIA:001673
def: "A spermatogenic failure that is characterized by autosomal recessive inhertitance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28206990 "DO"]
synonym: "SPGF23" EXACT []
xref: MIM:617707
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia

[Term]
id: DOID:0070182
name: spermatogenic failure 13
def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24431330 "DO"]
synonym: "SPGF13" EXACT []
xref: MIM:615841
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0070183
name: spermatogenic failure 5
alt_id: MIM:243060
def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17435757 "DO"]
synonym: "Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid" EXACT []
synonym: "infertility associated with multi-tailed spermatozoa and excessive DNA" EXACT []
synonym: "infertility associated with multitailed spermatozoa and excessive DNA" EXACT []
synonym: "macrocephalic sperm head syndrome" EXACT []
synonym: "male infertility due to macrozoospermia" EXACT []
synonym: "male infertility with large-headed, multiflagellar, polyploid spermatozoa" EXACT []
synonym: "MALE INFERTILITY WITH SPERMATOGENESIS DISORDER" EXACT []
synonym: "SPGF5" EXACT []
xref: GARD:12385
xref: MESH:C562903
xref: ORDO:137893
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0070184
name: spermatogenic failure 16
def: "A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27640305 "DO"]
synonym: "acephalic spermatozoa syndrome" EXACT []
synonym: "SPGF16" EXACT []
xref: MIM:617187
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa

[Term]
id: DOID:0070185
name: X-linked spermatogenic failure 2
def: "A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25970010 "DO"]
synonym: "male infertility from defect in meiosis" EXACT []
synonym: "SPGFX2" EXACT []
xref: MIM:309120
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia

[Term]
id: DOID:0070186
name: Y-linked spermatogenic failure 1
alt_id: MIM:400042
def: "A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2603934 "DO"]
synonym: "hypospermatogenesis" NARROW []
synonym: "Sertoli cell-only syndrome, incomplete" NARROW []
synonym: "Sertoli cell-only syndrome, type 1" EXACT []
synonym: "Sertoli cell-only syndrome, type I" EXACT []
synonym: "Sertoli cell-only syndrome, Y-linked" EXACT []
synonym: "SPGFY1" EXACT []
xref: MESH:C537587
is_a: DOID:0050457 ! Sertoli cell-only syndrome
is_a: DOID:0050738 ! Y-linked monogenic disease
is_a: DOID:0060388 ! chromosomal deletion syndrome

[Term]
id: DOID:0070187
name: Y-linked spermatogenic failure 2
alt_id: MIM:415000
def: "A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19737515 "DO"]
synonym: "AZF regions" NARROW []
synonym: "azoospermia factor regions" NARROW []
synonym: "HYPOSPERMATOGENESIS, NONOBSTRUCTIVE, Y-LINKED" EXACT []
synonym: "nonobstructive azoospermia, Y-linked" EXACT []
synonym: "nonobstructive spermatogenic failure, Y-linked" EXACT []
synonym: "SPGFY2" EXACT []
synonym: "Y-linked nonobstructive oligospermia" EXACT []
synonym: "Y-linked nonobstructive oligozoospermia" EXACT []
synonym: "Y-linked spermatogenic arrest" EXACT []
xref: MESH:C564030
xref: NCI:C185244
is_a: DOID:0050738 ! Y-linked monogenic disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0070188
name: spermatogenic failure 1
def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7446525 "DO"]
synonym: "oligochiasmatic infertility" EXACT []
synonym: "oligochiasmic infertility" EXACT []
synonym: "oligosynaptic infertility" EXACT []
synonym: "SPGF1" EXACT []
xref: MESH:C562902
xref: MIM:258150
xref: MONDO:0009776
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0070189
name: X-linked spermatogenic failure 1
def: "A Sertoli cell-only syndrome characterized by X-linked inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10507722 "DO"]
synonym: "SPGFX1" EXACT []
xref: MIM:305700
is_a: DOID:0050457 ! Sertoli cell-only syndrome

[Term]
id: DOID:0070191
name: autosomal recessive chronic granulomatous disease 2
alt_id: MIM:233710
def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7795241 "DO"]
synonym: "autosomal recessive CGD, cytochrome B-positive, type II" EXACT []
synonym: "autosomal recessive chronic granulomatous disease, cytochrome B-positive, type 2" EXACT []
synonym: "autosomal recessive chronic granulomatous disease cytochrome b-positive type II" EXACT []
synonym: "CDG2" EXACT []
synonym: "CGD2" EXACT []
synonym: "chronic granulomatous disease due to deficiency of NCF-2" EXACT []
synonym: "chronic granulomatous disease due to NCF2 deficiency" EXACT []
synonym: "deficiency of NCF2" EXACT []
synonym: "deficiency of neutrophil cytosol factor 2" EXACT []
synonym: "deficiency of P67-Phox" EXACT []
synonym: "NCF2 deficiency" EXACT []
synonym: "neutrophil cytosol factor 2 deficiency" EXACT []
synonym: "p67-phox deficiency" EXACT []
xref: MESH:C565531
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3265 ! chronic granulomatous disease

[Term]
id: DOID:0070192
name: autosomal recessive chronic granulomatous disease 1
alt_id: MIM:233700
def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2770793 "DO"]
synonym: "autosomal recessive chronic granulomatous disease cytochrome b-positive type I" EXACT []
synonym: "CDG1" EXACT []
synonym: "CGD1" EXACT []
synonym: "CGD, autosomal recessive cytochrome B-positive, type I" EXACT []
synonym: "chronic granulomatous disease due to deficiency of NCF-1" EXACT []
synonym: "chronic granulomatous disease due to NCF1 deficiency" EXACT []
synonym: "deficiency of NCF1" EXACT []
synonym: "deficiency of neutrophil cytosol factor 1" EXACT []
synonym: "deficiency of p47-phox" EXACT []
synonym: "deficiency of SOC2" EXACT []
synonym: "deficiency of soluble oxidase component II" EXACT []
synonym: "NCF1 deficiency" EXACT []
synonym: "neutrophil cytosol factor 1 deficiency" EXACT []
synonym: "p47-phox deficiency" EXACT []
synonym: "SOC2 deficiency" EXACT []
xref: MESH:C565532
xref: NCI:C154314
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3265 ! chronic granulomatous disease

[Term]
id: DOID:0070193
name: autosomal recessive chronic granulomatous disease 4
alt_id: MIM:233690
def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2770793 "DO"]
synonym: "autosomal recessive chronic granulomatous disease cytochrome b-negative" EXACT []
synonym: "autosomal recessive cytochrome b-negative CGD" EXACT []
synonym: "CGD4" EXACT []
synonym: "CGD due to deficiency of the alpha subunit of cytochrome b" EXACT []
synonym: "chronic granulomatous disease due to deficiency of CYBA" EXACT []
synonym: "chronic granulomatous disease due to deficiency of the Alpha subunit of cytochrome B" EXACT []
synonym: "CYBA Deficiency" EXACT []
xref: MESH:C565533
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3265 ! chronic granulomatous disease

[Term]
id: DOID:0070194
name: autosomal recessive chronic granulomatous disease 3
def: "A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19692703 "DO"]
synonym: "autosomal recessive CGD, cytochrome B-positive, type III" EXACT []
synonym: "autosomal recessive chronic granulomatous disease cytochrome b-positive type III" EXACT []
synonym: "CDG3" EXACT []
synonym: "CGD3" EXACT []
synonym: "chronic granulomatous disease, due to NCF4 deficiency" EXACT []
xref: MIM:613960
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3265 ! chronic granulomatous disease

[Term]
id: DOID:0070195
name: X-linked chronic granulomatous disease
alt_id: DOID:0070190
def: "A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4039107 "DO"]
synonym: "atypical chronic granulomatous disease" NARROW []
synonym: "CDGX" EXACT []
synonym: "CGDX" EXACT []
synonym: "X-linked chronic granulomatous disease, cytochrome B-negative" EXACT []
synonym: "X-linked chronic granulomatous disease, cytochrome B-positive" NARROW []
synonym: "X-linked chronic granulomatous disease, variant" NARROW []
xref: MIM:306400
xref: NCI:C154315
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:3265 ! chronic granulomatous disease

[Term]
id: DOID:0070196
name: infantile-onset distal myopathy
alt_id: MIM:160300
def: "A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5834698 "DO"]
synonym: "distal myopathy with onset in infancy" EXACT []
xref: MESH:C563543
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11720 ! distal myopathy

[Term]
id: DOID:0070197
name: distal myopathy 1
alt_id: OMIA:001200
def: "A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15322983 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7847377 "DO"]
synonym: "distal 1 myopathies" EXACT []
synonym: "distal myopathy type 1" EXACT []
synonym: "Gowers disease" EXACT []
synonym: "Laing distal myopathy" EXACT []
synonym: "Laing early-onset distal myopathy" EXACT []
synonym: "MPD1" EXACT []
xref: GARD:10769
xref: MIM:160500
xref: ORDO:59135
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11720 ! distal myopathy

[Term]
id: DOID:0070198
name: Miyoshi muscular dystrophy
def: "A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3942856 "DO"]
synonym: "distal muscular dystrophy, late onset, autosomal recessive" EXACT []
synonym: "Miyoshi distal myopathy" EXACT []
synonym: "Miyoshi myopathy" EXACT []
xref: GARD:9676
xref: MESH:C537480
xref: MIM:PS254130
xref: ORDO:45448
is_a: DOID:11720 ! distal myopathy
is_a: DOID:767 ! muscular atrophy

[Term]
id: DOID:0070199
name: Miyoshi muscular dystrophy 1
def: "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9731526 "DO"]
synonym: "Miyoshi myopathy 1" EXACT []
synonym: "MMD1" EXACT []
xref: MIM:254130
xref: NCI:C118846
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070198 ! Miyoshi muscular dystrophy

[Term]
id: DOID:0070200
name: Miyoshi muscular dystrophy 2
alt_id: MIM:613318
def: "A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9673985 "DO"]
synonym: "Miyoshi Myopathy 2" EXACT []
synonym: "MMD2" EXACT []
xref: MESH:C567646
is_a: DOID:0070198 ! Miyoshi muscular dystrophy

[Term]
id: DOID:0070201
name: Miyoshi muscular dystrophy 3
def: "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20096397 "DO"]
synonym: "Miyoshi myopathy 3" EXACT []
synonym: "MMD3" EXACT []
xref: MESH:C567645
xref: MIM:613319
xref: MONDO:0013222
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070198 ! Miyoshi muscular dystrophy

[Term]
id: DOID:0070202
name: familial partial lipodystrophy type 2
def: "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10587585 "DO", https://www.ncbi.nlm.nih.gov/pubmed/170190 "DO"]
synonym: "Dunnigan syndrome" EXACT []
synonym: "familial lipodystrophy of limbs and lower trunk" EXACT []
synonym: "familial partial lipodystrophy Dunnigan type" EXACT []
synonym: "FPLD2" EXACT []
synonym: "partial lipodystrophy, Dunnigan" EXACT []
xref: GARD:3126
xref: MIM:151660
xref: NCI:C165527
xref: ORDO:2348
is_a: DOID:0050440 ! familial partial lipodystrophy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9006138 ! Laminopathies

[Term]
id: DOID:0070203
name: familial partial lipodystrophy type 5
def: "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20049731 "DO"]
synonym: "CIDEC-related FPLD" EXACT []
synonym: "familial partial lipodystrophy associated with CIDEC mutations" EXACT []
synonym: "FPLD5" EXACT []
xref: MIM:615238
xref: ORDO:435651
is_a: DOID:0050440 ! familial partial lipodystrophy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070204
name: familial partial lipodystrophy type 3
def: "A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10622252 "DO"]
synonym: "familial partial lipodystrophy associated with PPARG mutations" EXACT []
synonym: "FPLD3" EXACT []
synonym: "PPARG-related familial partial lipodystrophy" EXACT []
synonym: "PPARG-related FPLD" EXACT []
xref: GARD:12600
xref: MIM:604367
xref: ORDO:79083
is_a: DOID:0050440 ! familial partial lipodystrophy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0070205
name: familial partial lipodystrophy type 4
def: "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21345103 "DO"]
synonym: "familial partial lipodystrophy associated with PLIN1 mutations" EXACT []
synonym: "FPLD4" EXACT []
synonym: "PLIN1-RELATED CONDITION" EXACT []
synonym: "PLIN1-related familial partial lipodystrophy" EXACT []
synonym: "PLIN1-related FPLD" EXACT []
xref: GARD:12601
xref: MIM:613877
xref: ORDO:280356
is_a: DOID:0050440 ! familial partial lipodystrophy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0070206
name: familial partial lipodystrophy type 6
def: "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24848981 "DO"]
synonym: "familial partial lipodystrophy associated with LIPE mutations" EXACT []
synonym: "FPLD6" EXACT []
synonym: "LIPE-related familial partial lipodystrophy" EXACT []
synonym: "LIPE-related FPLD" EXACT []
xref: MIM:615980
xref: ORDO:435660
is_a: DOID:0050440 ! familial partial lipodystrophy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070207
name: familial partial lipodystrophy type 1
def: "A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3712389 "DO"]
synonym: "familial partial lipodystrophy, Kobberling type" EXACT []
synonym: "familial partial lipodystrophy, Köbberling type" EXACT []
synonym: "FPLD1" EXACT []
xref: GARD:12598
xref: MIM:608600
xref: ORDO:79084
is_a: DOID:0050440 ! familial partial lipodystrophy

[Term]
id: DOID:0070208
name: hereditary lymphedema IC
def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20537300 "DO"]
synonym: "LMPH1C" EXACT []
xref: MIM:613480
is_a: DOID:0050580 ! hereditary lymphedema
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0070209
name: hereditary lymphedema ID
def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23410910 "DO"]
synonym: "LMPH1D" EXACT []
xref: MIM:615907
is_a: DOID:0050580 ! hereditary lymphedema
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0070210
name: hereditary lymphedema IA
def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10835628 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9817924 "DO"]
synonym: "early-onset primary congenital lymphedema" EXACT []
synonym: "EDEMA OF THE DORSUM OF FEET" NARROW []
synonym: "hereditary lymphedema type I" EXACT []
synonym: "LMPH1A" EXACT []
synonym: "LMPHM1" EXACT []
synonym: "LYMPHATIC MALFORMATION 1" EXACT []
synonym: "MILROY DISEASE LYMPHEDEMA" EXACT []
synonym: "Nonne-Milroy lymphedema" EXACT []
synonym: "PCL" EXACT []
xref: MIM:153100
is_a: DOID:0050580 ! hereditary lymphedema
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0070211
name: hereditary lymphedema IB
alt_id: MIM:611944
def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18193458 "DO"]
synonym: "LMPH1B" EXACT []
xref: MESH:C567452
is_a: DOID:0050580 ! hereditary lymphedema
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0070212
name: hereditary lymphedema I
def: "A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9817924 "DO"]
synonym: "congenital primary lymphedema" EXACT []
synonym: "hereditary lymphedema 1" EXACT []
synonym: "hereditary lymphedema type I" EXACT []
synonym: "LMPH1" EXACT []
synonym: "Milroy's disease" EXACT []
synonym: "Milroy disease" EXACT []
synonym: "Milroys disease" EXACT []
synonym: "Nonne-Milroy lymphedema" EXACT []
synonym: "PCL" EXACT []
xref: ICD10CM:Q82.0
xref: NCI:C48829
xref: ORDO:79452
is_a: DOID:0050580 ! hereditary lymphedema

[Term]
id: DOID:0070213
name: hereditary lymphedema II
alt_id: MIM:153200
def: "A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6342849 "DO"]
synonym: "late-onset lymphedema" EXACT []
synonym: "LMPH2" EXACT []
synonym: "Lymphedema Praecox" EXACT []
synonym: "lymphedema preacox" EXACT []
synonym: "Meige disease" EXACT []
synonym: "Meige lymphedema" EXACT []
xref: GARD:3324
xref: ICD10CM:I89.0
xref: MESH:C562467
xref: ORDO:90186
is_a: DOID:0050580 ! hereditary lymphedema
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0070214
name: familial hyperinsulinemic hypoglycemia 7
alt_id: MIM:610021
def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17701893 "DO"]
synonym: "EIHI" EXACT []
synonym: "exercise-induced hyperinsulinemic hypoglycemia" EXACT []
synonym: "exercise-induced hyperinsulinism" EXACT []
synonym: "HHF7" EXACT []
synonym: "hyperinsulinism due to monocarboxylate transporter 1 deficiency" EXACT []
synonym: "hyperinsulinism due to SLC16A1 deficiency" EXACT []
xref: GARD:9932
xref: MESH:C538376
xref: NCI:C131839
xref: ORDO:165991
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13317 ! hyperinsulinemic hypoglycemia

[Term]
id: DOID:0070215
name: familial hyperinsulinemic hypoglycemia 4
alt_id: MIM:609975
def: "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11489939 "DO"]
synonym: "HHF4" EXACT []
synonym: "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT []
synonym: "hyperinsulinism due to glutamodehydrogenase deficiency" EXACT []
synonym: "hyperinsulinism due to SCHAD deficiency" EXACT []
synonym: "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT []
xref: GARD:2819
xref: MESH:C566493
xref: ORDO:71212
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13317 ! hyperinsulinemic hypoglycemia

[Term]
id: DOID:0070216
name: familial hyperinsulinemic hypoglycemia 3
alt_id: MIM:602485
def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11916951 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9435328 "DO"]
synonym: "HHF3" EXACT []
synonym: "hyperinsulinemic hypoglycemia due to glucokinase deficiency" EXACT []
synonym: "hyperinsulinism due to glucokinase deficiency" EXACT []
xref: GARD:2818
xref: MESH:C538374
xref: ORDO:79299
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13317 ! hyperinsulinemic hypoglycemia

[Term]
id: DOID:0070217
name: familial hyperinsulinemic hypoglycemia 6
alt_id: MIM:606762
def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8769351 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9571255 "DO"]
synonym: "HHF6" EXACT []
synonym: "HI/HA syndrome" EXACT []
synonym: "hyperinsulinism-hyperammonemia syndrome" EXACT []
xref: GARD:9931
xref: MESH:C538375
xref: ORDO:35878
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13317 ! hyperinsulinemic hypoglycemia

[Term]
id: DOID:0070218
name: familial hyperinsulinemic hypoglycemia 2
def: "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8923010 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9356020 "DO"]
synonym: "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT []
synonym: "HHF2" EXACT []
xref: MIM:601820
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13317 ! hyperinsulinemic hypoglycemia

[Term]
id: DOID:0070219
name: familial hyperinsulinemic hypoglycemia 1
def: "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7005072 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7716548 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8545179 "DO"]
synonym: "CONGENITAL ISOLATED HYPERINSULINISM" EXACT []
synonym: "HHF1" EXACT []
synonym: "HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA" EXACT []
synonym: "HYPERINSULINISM, CONGENITAL" EXACT []
synonym: "HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS" EXACT []
synonym: "HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY" EXACT []
synonym: "NESIDIOBLASTOSIS OF PANCREAS" EXACT []
synonym: "PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY" EXACT []
synonym: "PHHI" EXACT []
xref: MIM:256450
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13317 ! hyperinsulinemic hypoglycemia

[Term]
id: DOID:0070220
name: familial hyperinsulinemic hypoglycemia 5
def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15161766 "DO"]
synonym: "HHF5" EXACT []
synonym: "hyperinsulinemic hypoglycemia due to INSR deficiency" EXACT []
synonym: "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" EXACT []
synonym: "hyperinsulinism due to INSR deficiency" EXACT []
xref: MESH:C566494
xref: MIM:609968
xref: MONDO:0012381
xref: ORDO:263458
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13317 ! hyperinsulinemic hypoglycemia

[Term]
id: DOID:0070221
name: progressive familial intrahepatic cholestasis
def: "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15239083 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8014759 "DO"]
synonym: "Byler disease" EXACT []
synonym: "PFIC" EXACT []
xref: MIM:PS211600
xref: MONDO:0015762
xref: NCI:C84453
xref: ORDO:172
is_a: DOID:1852 ! intrahepatic cholestasis
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0070222
name: progressive familial intrahepatic cholestasis 2
alt_id: MIM:601847
def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9806540 "DO"]
synonym: "ABCB11-RELATED CONDITION" BROAD []
synonym: "BSEP deficiency" EXACT []
synonym: "FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2" BROAD []
synonym: "PFIC2" EXACT []
synonym: "PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2" EXACT []
xref: GARD:1288
xref: MESH:C535934
xref: ORDO:79304
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis

[Term]
id: DOID:0070223
name: progressive familial intrahepatic cholestasis 3
alt_id: MIM:602347
def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9419367 "DO"]
synonym: "ABCB4-related intrahepatic cholestasis" EXACT []
synonym: "Low gamma-GT Familial Intrahepatic Cholestasis" EXACT []
synonym: "MDR3 Deficiency" EXACT []
synonym: "PFIC3" EXACT []
synonym: "progressive familial intrahepatic cholestasis 3 (PFIC 3)" EXACT []
synonym: "progressive familial intrahepatic cholestasis 3 (PFIC3)" EXACT []
synonym: "progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase" EXACT []
synonym: "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase" EXACT []
xref: GARD:1289
xref: MESH:C535935
xref: ORDO:79305
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis

[Term]
id: DOID:0070224
name: progressive familial intrahepatic cholestasis 4
def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24614073 "DO"]
synonym: "PFIC4" EXACT []
synonym: "progressive familial intrahepatic cholestasis, (PFIC4-like)" RELATED []
synonym: "TJP2 deficit" EXACT []
synonym: "TJP2-RELATED CONDITION" BROAD []
xref: MIM:615878
xref: ORDO:480483
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis

[Term]
id: DOID:0070225
name: progressive familial intrahepatic cholestasis 5
def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26888176 "DO"]
synonym: "NR1H4 deficiency" EXACT []
synonym: "NR1H4-RELATED CONDITION" EXACT []
synonym: "PFIC5" EXACT []
xref: MIM:617049
xref: ORDO:480476
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis

[Term]
id: DOID:0070226
name: progressive familial intrahepatic cholestasis 1
alt_id: MIM:211600
def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9500542 "DO"]
synonym: "Byler's disease" EXACT []
synonym: "Byler disease" EXACT []
synonym: "fatal intrahepatic cholestasis" EXACT []
synonym: "FIC1 deficiency" EXACT []
synonym: "PFIC1" EXACT []
synonym: "progressive familial intrahepatic cholestasis" EXACT []
synonym: "progressive familial intrahepatic cholestasis type 1 (PFIC 1)" EXACT []
synonym: "progressive familial intrahepatic cholestasis type 1 (PFIC1)" EXACT []
xref: GARD:9802
xref: MESH:C535933
xref: ORDO:79306
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis

[Term]
id: DOID:0070227
name: intrahepatic cholestasis of pregnancy
def: "An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27936482 "DO"]
synonym: "cholestasis of pregnancy" EXACT []
synonym: "familial intrahepatic cholestasis of pregnancy" EXACT []
synonym: "familial recurrent intrahepatic cholestasis of pregnancy" EXACT []
synonym: "gravidic intrahepatic cholestasis" EXACT []
synonym: "ICP" EXACT []
synonym: "obstetric cholestasis" EXACT []
synonym: "pregnancy related cholestasis" EXACT []
synonym: "recurrent intrahepatic cholestasis of pregnancy" EXACT []
xref: EFO:0009048
xref: GARD:9804
xref: MESH:C535932
xref: ORDO:69665
is_a: DOID:1852 ! intrahepatic cholestasis
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:0070228
name: intrahepatic cholestasis of pregnancy 1
def: "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15888793 "DO"]
synonym: "ICP1" EXACT []
synonym: "pregnancy related cholestasis 1" EXACT []
xref: MIM:147480
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070227 ! intrahepatic cholestasis of pregnancy

[Term]
id: DOID:0070229
name: intrahepatic cholestasis of pregnancy 3
alt_id: RDO:9000229
def: "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9419367 "DO"]
synonym: "ICP3" EXACT []
synonym: "pregnancy related cholestasis 3" EXACT []
xref: EFO:0009150
xref: MIM:614972
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070227 ! intrahepatic cholestasis of pregnancy

[Term]
id: DOID:0070230
name: benign recurrent intrahepatic cholestasis
def: "An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23402083 "DO"]
synonym: "BRIC" EXACT []
synonym: "Summerskill-Walshe-Tygstrup syndrome" EXACT []
xref: GARD:12185
xref: MIM:PS243300
xref: NCI:C84402
xref: ORDO:65682
is_a: DOID:1852 ! intrahepatic cholestasis

[Term]
id: DOID:0070231
name: benign recurrent intrahepatic cholestasis 1
def: "A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9500542 "DO"]
synonym: "BRIC1" EXACT []
synonym: "BRIC type 1" EXACT []
synonym: "Summerskill syndrome" EXACT []
xref: GARD:10028
xref: MIM:243300
xref: ORDO:99960
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070230 ! benign recurrent intrahepatic cholestasis

[Term]
id: DOID:0070232
name: benign recurrent intrahepatic cholestasis 2
def: "A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15300568 "DO"]
synonym: "ABCB11-RELATED CONDITION" BROAD []
synonym: "benign recurrent intrahepatic cholestasis 2 (BRIC2)" EXACT []
synonym: "benign recurrent intrahepatic cholestasis type 2" EXACT []
synonym: "BRIC2" EXACT []
synonym: "BRIC type 2" EXACT []
synonym: "FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2" BROAD []
xref: GARD:10029
xref: MIM:605479
xref: ORDO:99961
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070230 ! benign recurrent intrahepatic cholestasis

[Term]
id: DOID:0070233
name: Loeys-Dietz syndrome 4
def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22772368 "DO"]
synonym: "aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations" EXACT []
synonym: "LDS4" EXACT []
xref: MIM:614816
is_a: DOID:0050466 ! Loeys-Dietz syndrome

[Term]
id: DOID:0070234
name: Loeys-Dietz syndrome 2
alt_id: MIM:610168
def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15235604 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15731757 "DO"]
synonym: "AAT3" EXACT []
synonym: "familial thoracic aortic aneurysm 3" EXACT []
synonym: "familial throacic aortic aneurysm 3" RELATED []
synonym: "LDS2" EXACT []
synonym: "Loeys-Dietz Syndrome, Type 2" EXACT []
synonym: "Loeys-Dietz Syndrome, Type 2b" EXACT []
synonym: "Marfan syndrome/Loeys-Dietz syndrome/familial thoracic aortic aneurysms and dissections" EXACT []
synonym: "Marfan syndrome, type II" EXACT []
xref: EFO:0009299
xref: MESH:C537783
xref: NCI:C114768
is_a: DOID:0050466 ! Loeys-Dietz syndrome
is_a: DOID:14004 ! thoracic aortic aneurysm

[Term]
id: DOID:0070235
name: Loeys-Dietz syndrome 1
alt_id: MIM:609192
def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15731757 "DO"]
synonym: "AAT5" EXACT []
synonym: "familial thoracic aortic aneurysm 5" EXACT []
synonym: "familial throacic aortic aneurysm 5" EXACT []
synonym: "Furlong syndrome" EXACT []
synonym: "LDS1" EXACT []
synonym: "Loeys-Dietz syndrome, type 2A" EXACT []
xref: MESH:C567156
is_a: DOID:0050466 ! Loeys-Dietz syndrome
is_a: DOID:14004 ! thoracic aortic aneurysm

[Term]
id: DOID:0070236
name: Loeys-Dietz syndrome 5
def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23824657 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25835445 "DO"]
synonym: "LDS5" EXACT []
synonym: "Reinhoff syndrome" EXACT []
synonym: "Rienhoff syndrome" EXACT []
synonym: "RNHF" EXACT []
xref: EFO:1000012
xref: MIM:615582
is_a: DOID:0050466 ! Loeys-Dietz syndrome

[Term]
id: DOID:0070237
name: Loeys-Dietz syndrome 3
def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21217753 "DO"]
synonym: "ANEURYSMS-OSTEOARTHRITIS SYNDROME" EXACT []
synonym: "LDS1C" EXACT []
synonym: "LDS3" EXACT []
synonym: "LOEYS-DIETZ SYNDROME, TYPE 1C" EXACT []
synonym: "Loeys-Dietz syndrome with osteoarthritis" EXACT []
xref: MIM:613795
is_a: DOID:0050466 ! Loeys-Dietz syndrome

[Term]
id: DOID:0070238
name: primary coenzyme Q10 deficiency 1
def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19375058 "DO"]
synonym: "coenzyme Q deficiency 1" EXACT []
synonym: "COQ10D1" EXACT []
synonym: "COQ2-RELATED CONDITION" BROAD []
synonym: "CoQ deficiency 1" EXACT []
synonym: "primary CoQ10 deficiency 1" EXACT []
synonym: "ubiquinone deficiency 1" EXACT []
xref: MIM:607426
is_a: DOID:0050730 ! coenzyme Q10 deficiency disease

[Term]
id: DOID:0070239
name: primary coenzyme Q10 deficiency 2
def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17332895 "DO"]
synonym: "COQ10D2" EXACT []
synonym: "deafness-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT []
synonym: "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT []
xref: MIM:614651
xref: ORDO:254898
is_a: DOID:0050730 ! coenzyme Q10 deficiency disease

[Term]
id: DOID:0070240
name: primary coenzyme Q10 deficiency 3
def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17186472 "DO"]
synonym: "COQ10D3" EXACT []
synonym: "PDSS2-RELATED CONDITION" EXACT []
xref: MIM:614652
is_a: DOID:0050730 ! coenzyme Q10 deficiency disease

[Term]
id: DOID:0070241
name: primary coenzyme Q10 deficiency 4
alt_id: MIM:612016
def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18319072 "DO"]
synonym: "autosomal recessive cerebellar ataxia type 2" EXACT []
synonym: "autosomal recessive spinocerebellar ataxia 9" EXACT []
synonym: "COQ10D4" EXACT []
synonym: "COQ8A-RELATED CONDITION" EXACT []
synonym: "SCAR9" EXACT []
xref: GARD:10294
xref: MESH:C567436
xref: ORDO:139485
is_a: DOID:0050730 ! coenzyme Q10 deficiency disease
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0070242
name: primary coenzyme Q10 deficiency 5
def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19375058 "DO"]
synonym: "COQ10D5" EXACT []
synonym: "COQ9-RELATED CONDITION" EXACT []
synonym: "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome" EXACT []
synonym: "ORDO:319678" EXACT []
xref: MIM:614654
is_a: DOID:0050730 ! coenzyme Q10 deficiency disease

[Term]
id: DOID:0070243
name: primary coenzyme Q10 deficiency 6
def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21540551 "DO"]
synonym: "COQ10D6" EXACT []
synonym: "familial steroid-resistant nephrotic syndrome with sensorineural deafness" EXACT []
xref: MIM:614650
xref: ORDO:280406
is_a: DOID:0050730 ! coenzyme Q10 deficiency disease

[Term]
id: DOID:0070244
name: primary coenzyme Q10 deficiency 7
def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25658047 "DO"]
synonym: "COQ10D7" EXACT []
synonym: "COQ4-related neonatal encephalomyopathy" EXACT []
synonym: "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" EXACT []
xref: MIM:616276
xref: ORDO:457185
is_a: DOID:0050730 ! coenzyme Q10 deficiency disease

[Term]
id: DOID:0070245
name: primary coenzyme Q10 deficiency 8
def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26084283 "DO"]
synonym: "coenzyme Q10 deficiency-8" EXACT []
synonym: "COQ10D8" EXACT []
xref: MIM:616733
is_a: DOID:0050730 ! coenzyme Q10 deficiency disease

[Term]
id: DOID:0070246
name: X-linked Emery-Dreifuss muscular dystrophy 1
alt_id: MIM:310300
def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8042665 "DO"]
synonym: "EDMD1" EXACT []
synonym: "EMD1" EXACT []
synonym: "Emery-Dreifuss muscular dystrophy 1" EXACT []
synonym: "tardive muscular dystrophy, Dreifuss-Emery type, with contractures" EXACT []
synonym: "X-linked scapuloperoneal syndrome" EXACT []
xref: MESH:C535734
xref: NCI:C168730
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:0070247
name: autosomal dominant Emery-Dreifuss muscular dystrophy 2
alt_id: DOID:0110301
alt_id: MESH:D000083144
def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10080180 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10814726 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=30055862 "DO"]
synonym: "autosomal dominant limb-girdle muscular dystrophy type 1B" EXACT []
synonym: "EDMD2" EXACT []
synonym: "EMD2" EXACT []
synonym: "Emery Dreifuss muscular dystrophy 2" EXACT []
synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" EXACT []
synonym: "Hauptmann-Thannhauser muscular dystrophy" EXACT []
synonym: "LGMD1B" EXACT []
synonym: "limb-girdle muscular dystrophy due to lamin A/C deficiency" EXACT []
synonym: "muscular dystrophy, limb-girdle type 1B" EXACT []
synonym: "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant" EXACT []
synonym: "proximal muscular dystrophy type 1B" EXACT []
synonym: "scapuloilioperoneal atrophy with cardiopathy" EXACT []
xref: MIM:181350
xref: NCI:C126745
xref: ORDO:264
is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy
is_a: DOID:9008000 ! Autosomal Emery-Dreifuss Muscular Dystrophy

[Term]
id: DOID:0070248
name: autosomal recessive Emery-Dreifuss muscular dystrophy 3
alt_id: MIM:616516
def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10739764 "DO"]
synonym: "atypical Emery-Dreifuss muscular dystrophy, autosomal recessive" EXACT []
synonym: "EDMD3" EXACT []
xref: MESH:C567633
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9008000 ! Autosomal Emery-Dreifuss Muscular Dystrophy

[Term]
id: DOID:0070249
name: autosomal dominant Emery-Dreifuss muscular dystrophy 4
alt_id: MIM:612998
def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17761684 "DO"]
synonym: "EDMD4" EXACT []
synonym: "Emery-Dreifuss muscular dystrophy 4" EXACT []
synonym: "Emery-Dreifuss muscular dystrophy 4 with variable features" EXACT []
xref: MESH:C567831
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy

[Term]
id: DOID:0070250
name: autosomal dominant Emery-Dreifuss muscular dystrophy 5
alt_id: MIM:612999
def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17761684 "DO"]
synonym: "EDMD5" EXACT []
synonym: "Emery-Dreifuss muscular dystrophy 5" EXACT []
synonym: "SYNE2-RELATED CONDITION" EXACT []
xref: MESH:C567830
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy

[Term]
id: DOID:0070251
name: X-linked Emery-Dreifuss muscular dystrophy 6
def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18179888 "DO"]
synonym: "EDMD6" EXACT []
synonym: "Emery-Dreifuss muscular dystrophy 6" EXACT []
synonym: "X-Linked Myopathy with Postural Muscle Atrophy" EXACT []
synonym: "XMPMA" EXACT []
xref: MIM:300696
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy

[Term]
id: DOID:0070252
name: autosomal dominant Emery-Dreifuss muscular dystrophy 7
def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21391237 "DO"]
synonym: "EDMD7" EXACT []
synonym: "Emery-Dreifuss muscular dystrophy 7, AD" EXACT []
xref: MIM:614302
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy

[Term]
id: DOID:0070253
name: congenital disorder of glycosylation type IIa
alt_id: MIM:212066
def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8127054 "DO"]
synonym: "Alkuraya syndrome" EXACT []
synonym: "Carbohydrate-deficient glycoprotein syndrome, type 2" EXACT []
synonym: "carbohydrate-deficient glycoprotein syndrome, type II" EXACT []
synonym: "CDG2A" EXACT []
synonym: "CDG IIA" EXACT []
synonym: "CDGIIA" EXACT []
synonym: "CDGS2" EXACT []
synonym: "congenital disorder of glycosylation type 2A" EXACT []
synonym: "mental retardation, growth retardation, prominent columella, and open mouth" EXACT []
xref: GARD:9828
xref: MESH:C535752
xref: ORDO:79329
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9002278 ! Metabolic Bone Diseases

[Term]
id: DOID:0070254
name: congenital disorder of glycosylation type IIb
alt_id: MIM:606056
def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10788335 "DO"]
synonym: "CDG2B" EXACT []
synonym: "CDG IIB" EXACT []
synonym: "CDGIIB" EXACT []
synonym: "congenital disorder of glycosylation type 2B" EXACT []
synonym: "glucosidase I deficiency" EXACT []
xref: GARD:10767
xref: MESH:C565264
xref: ORDO:79330
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070255
name: congenital disorder of glycosylation type IIc
def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10590041 "DO"]
comment: Note: FEB 2019: per https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/648 DOID:0080492 (leukocyte adhesion deficiency 2) and DOID:0070255 (congenital disorder of glycosylation type IIc) are two different diseases.
synonym: "CDG2C" EXACT []
synonym: "CDG IIc" EXACT []
synonym: "CDGIIc" EXACT []
synonym: "congenital disorder of glycosylation type 2C" EXACT []
synonym: "Rambam Hasharon syndrome" EXACT []
synonym: "RHS" EXACT []
xref: GARD:4634
xref: MESH:C535755
xref: MIM:266265
xref: NCI:C4690
xref: ORDO:99843
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070256
name: congenital disorder of glycosylation type IId
alt_id: MESH:C564625
alt_id: MIM:607091
def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11901181 "DO"]
synonym: "CDG2D" EXACT []
synonym: "CDG IID" EXACT []
synonym: "CDGIID" EXACT []
synonym: "congenital disorder of glycosylation type 2D" EXACT []
synonym: "congenital disorder of glycosylation, type IIID" RELATED []
xref: GARD:9841
xref: MESH:C535753
xref: ORDO:79332
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070257
name: congenital disorder of glycosylation type IIe
def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15107842 "DO"]
synonym: "carbohydrate deficient glycoprotein syndrome type IIe" EXACT []
synonym: "CDG2E" EXACT []
synonym: "CDG IIE" EXACT []
synonym: "CDGIIE" EXACT []
synonym: "CDG syndrome type IIe" EXACT []
synonym: "COG7-CDG" EXACT []
synonym: "COG7-congenital disorder of glycosylation" EXACT []
synonym: "congenital disorder of glycosylation type 2E" EXACT []
xref: GARD:9842
xref: MESH:C535754
xref: MIM:608779
xref: MONDO:0012118
xref: ORDO:79333
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070258
name: congenital disorder of glycosylation type IIf
alt_id: MIM:603585
def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11157507 "DO"]
synonym: "carbohydrate deficient glycoprotein syndrome type IIf" EXACT []
synonym: "CDG2F" EXACT []
synonym: "CDG IIF" EXACT []
synonym: "CDGIIF" EXACT []
synonym: "CMP-sialic acid transporter deficiency" EXACT []
synonym: "congenital disorder of glycosylation type 2F" EXACT []
synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, MODIFIER OF" RELATED []
synonym: "SLC35A1-CDG" EXACT []
xref: GARD:12409
xref: MESH:C567040
xref: MONDO:0011342
xref: ORDO:238459
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070259
name: congenital disorder of glycosylation type IIg
def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16537452 "DO"]
synonym: "carbohydrate deficient glycoprotein syndrome type IIg" EXACT []
synonym: "CDG2G" EXACT []
synonym: "CDGII/COG1 cerebrocostomandibular-like syndrome" EXACT []
synonym: "CDG IIG" EXACT []
synonym: "CDGIIG" EXACT []
synonym: "congenital disorder of glycosylation type 2G" EXACT []
xref: GARD:10226
xref: MESH:C535756
xref: MIM:611209
xref: MONDO:0012637
xref: ORDO:263508
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070260
name: congenital disorder of glycosylation type IIh
def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17220172 "DO"]
synonym: "carbohydrate deficient glycoprotein syndrome type IIh" EXACT []
synonym: "CDG2H" EXACT []
synonym: "CDG IIh" EXACT []
synonym: "CDGIIH" EXACT []
synonym: "CDG IIIH" EXACT []
synonym: "COG8-CDG" EXACT []
synonym: "congenital disorder of glycosylation type 2H" EXACT []
xref: GARD:12411
xref: MESH:C566987
xref: MIM:611182
xref: MONDO:0012635
xref: ORDO:95428
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070261
name: congenital disorder of glycosylation type IIi
def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19690088 "DO"]
synonym: "carbohydrate deficient glycoprotein syndrome type IIi" EXACT []
synonym: "CDG2I" EXACT []
synonym: "CDG IIi" EXACT []
synonym: "CDGIIi" EXACT []
synonym: "CDG syndrome type IIi" EXACT []
synonym: "COG5-CDG" EXACT []
synonym: "COG5-congenital disorder of glycosylation" EXACT []
synonym: "congenital disorder of glycosylation type 2I" EXACT []
xref: GARD:12348
xref: MIM:613612
xref: MONDO:0013325
xref: ORDO:263487
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070262
name: congenital disorder of glycosylation type IIj
def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19494034 "DO"]
synonym: "carbohydrate deficient glycoprotein syndrome type IIj" EXACT []
synonym: "CDG2J" EXACT []
synonym: "CDG IIj" EXACT []
synonym: "CDGIIj" EXACT []
synonym: "CDG syndrome type IIj" EXACT []
synonym: "COG4-CDG" EXACT []
synonym: "COG4-related congenital disorder of glycosylation, autosomal dominant" NARROW []
synonym: "congenital disorder of glycosylation type 2J" EXACT []
xref: GARD:12412
xref: MIM:613489
xref: MONDO:0013281
xref: ORDO:263501
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070263
name: congenital disorder of glycosylation type IIk
def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22683087 "DO"]
synonym: "carbohydrate deficient glycoprotein syndrome type IIk" EXACT []
synonym: "CDG2k" EXACT []
synonym: "CDG IIk" EXACT []
synonym: "CDGIIk" EXACT []
synonym: "CDG syndrome type IIk" EXACT []
synonym: "congenital disorder of glycosylation type 2K" EXACT []
synonym: "TMEM165-CDG" EXACT []
xref: GARD:12413
xref: MIM:614727
xref: MONDO:0013870
xref: ORDO:314667
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070264
name: congenital disorder of glycosylation type IIl
def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20605848 "DO"]
synonym: "CDG2L" EXACT []
synonym: "CDG IIl" EXACT []
synonym: "CDGIIl" EXACT []
synonym: "CDG syndrome type IIL" EXACT []
synonym: "COG6-CGD" EXACT []
synonym: "COG6-RELATED CONDITION" BROAD []
synonym: "congenital disorder of glycosylation type 2L" EXACT []
xref: GARD:10944
xref: MIM:614576
xref: MONDO:0013810
xref: ORDO:464443
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070265
name: congenital disorder of glycosylation type IIm
alt_id: DOID:0080469
def: "A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23561849 "DO"]
synonym: "CDG2M" EXACT []
synonym: "CDG IIm" EXACT []
synonym: "CDGIIm" EXACT []
synonym: "CDG syndrome type IIm" EXACT []
synonym: "congenital disorder of glycosylation type 2M" EXACT []
synonym: "DEE22" EXACT []
synonym: "developmental and epileptic encephalopathy 22" EXACT []
synonym: "early infantile epileptic encephalopathy 22" EXACT []
synonym: "EIEE22" EXACT []
synonym: "SLC35A2-CDG" EXACT []
xref: GARD:12403
xref: MIM:300896
xref: MONDO:0010478
xref: ORDO:356961
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0070266
name: congenital disorder of glycosylation type IIn
def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26637978 "DO"]
synonym: "carbohydrate deficient glycoprotein syndrome type IIn" EXACT []
synonym: "CDG2N" EXACT []
synonym: "CDG IIn" EXACT []
synonym: "CDGIIn" EXACT []
synonym: "CDG syndrome type IIn" EXACT []
synonym: "congenital disorder of glycosylation type 2N" EXACT []
synonym: "SLC39A8-CDG" EXACT []
xref: MIM:616721
xref: MONDO:0014746
xref: ORDO:468699
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070267
name: congenital disorder of glycosylation type IIo
def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26833332 "DO"]
synonym: "carbohydrate deficient glycoprotein syndrome type IIo" EXACT []
synonym: "CCDC115-CDG" EXACT []
synonym: "CDG2O" EXACT []
synonym: "CDG IIo" EXACT []
synonym: "CDGIIo" EXACT []
synonym: "CDG syndrome type IIo" EXACT []
synonym: "congenital disorder of glycosylation type 2O" EXACT []
xref: MIM:616828
xref: MONDO:0014789
xref: ORDO:468684
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070268
name: congenital disorder of glycosylation type IIp
def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26833330 "DO"]
synonym: "carbohydrate deficient glycoprotein syndrome type IIp" EXACT []
synonym: "CDG2P" EXACT []
synonym: "CDG IIp" EXACT []
synonym: "CDGIIp" EXACT []
synonym: "CDG syndrome type IIp" EXACT []
synonym: "congenital disorder of glycosylation type 2P" EXACT []
synonym: "TMEM199-CDG" EXACT []
xref: MIM:616829
xref: MONDO:0014790
xref: ORDO:466703
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070269
name: congenital disorder of glycosylation type IIq
def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24784932 "DO"]
synonym: "CDG2Q" EXACT []
synonym: "CDG IIq" EXACT []
synonym: "CDGIIq" EXACT []
synonym: "COG2-CDG" EXACT []
synonym: "COG2-related congenital disorder of glycosylation" EXACT []
synonym: "congenital disorder of glycosylation type 2Q" EXACT []
xref: MIM:617395
xref: MONDO:0054559
xref: ORDO:435934
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0070270
name: hereditary nonpolyposis colorectal cancer type 8
alt_id: MIM:613244
def: "A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19098912 "DO"]
synonym: "HNPCC8" EXACT []
xref: MESH:C567685
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:3883 ! Lynch syndrome

[Term]
id: DOID:0070271
name: Lynch syndrome 1
def: "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8261515 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8574961 "DO"]
synonym: "COCA 1" EXACT []
synonym: "COCA1" EXACT []
synonym: "Colon cancer, familial nonpolyposis, type 1" EXACT []
synonym: "FCC1" EXACT []
synonym: "hereditary non-polyposis colon cancer type 1" EXACT []
synonym: "hereditary nonpolyposis colorectal cancer, type 1" EXACT []
synonym: "HNPCC1" EXACT []
synonym: "Lynch cancer family syndrome I" RELATED []
synonym: "Lynch syndrome I" RELATED []
synonym: "Lynch syndrome I (site-specific colonic cancer)" RELATED []
synonym: "Lynch syndrome II" RELATED []
xref: MESH:C537261
xref: MIM:120435
xref: MONDO:0007356
xref: NCI:C6725
is_a: DOID:3883 ! Lynch syndrome

[Term]
id: DOID:0070272
name: hereditary nonpolyposis colorectal cancer type 5
alt_id: MIM:614350
alt_id: RDO:0012705
def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9354786 "DO"]
synonym: "hereditary nonpolyposis colon cancer type 5" EXACT []
synonym: "HNPCC5" EXACT []
xref: MESH:C563456
is_a: DOID:3883 ! Lynch syndrome

[Term]
id: DOID:0070273
name: hereditary nonpolyposis colorectal cancer type 6
alt_id: MIM:614331
alt_id: RDO:0014516
def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9590282 "DO"]
synonym: "hereditary nonpolyposis colon cancer type 6" EXACT []
synonym: "HNPCC6" EXACT []
xref: MESH:C566039
is_a: DOID:3883 ! Lynch syndrome

[Term]
id: DOID:0070274
name: hereditary nonpolyposis colorectal cancer type 2
alt_id: MIM:609310
def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8128251 "DO"]
synonym: "COCA2" EXACT []
synonym: "familial nonpolyposis colon cancer type 2" EXACT []
synonym: "FCC2" EXACT []
synonym: "HNPCC2" EXACT []
synonym: "Lynch cancer family syndrome 2" EXACT []
synonym: "Lynch cancer family syndrome II" EXACT []
synonym: "Lynch syndrome II" EXACT []
synonym: "MLH1-RELATED CONDITION" BROAD []
xref: MESH:D055847
is_a: DOID:3883 ! Lynch syndrome

[Term]
id: DOID:0070275
name: hereditary nonpolyposis colorectal cancer type 4
alt_id: MIM:614337
alt_id: RDO:0013082
def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8072530 "DO"]
synonym: "HNPCC4" EXACT []
synonym: "LYNCH4" EXACT []
synonym: "LYNCH SYNDROME 4" EXACT []
synonym: "PMS2-RELATED CONDITION" BROAD []
xref: MESH:C563971
is_a: DOID:3883 ! Lynch syndrome

[Term]
id: DOID:0070276
name: hereditary nonpolyposis colorectal cancer type 7
alt_id: MIM:614385
alt_id: RDO:0014324
def: "A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12702580 "DO"]
synonym: "hereditary nonpolyposis colorectal cancer-7" EXACT []
synonym: "HNPCC7" EXACT []
synonym: "MLH3-related Lynch syndrome" EXACT []
xref: MESH:C565777
is_a: DOID:3883 ! Lynch syndrome

[Term]
id: DOID:0070277
name: primary autosomal recessive microcephaly 15
def: "A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30043326/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26005868 "DO"]
synonym: "MCPH15" EXACT []
synonym: "NEDMISBA" EXACT []
synonym: "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities" EXACT []
xref: MIM:616486
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070278
name: primary autosomal recessive microcephaly 7
alt_id: MIM:612703
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19215732 "DO"]
synonym: "MCPH7" EXACT []
xref: MESH:C567198
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070279
name: primary autosomal recessive microcephaly 14
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24951542 "DO"]
synonym: "MCPH14" EXACT []
xref: MIM:616402
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070280
name: primary autosomal recessive microcephaly 5
alt_id: MESH:C567221
alt_id: MIM:608716
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12355089 "DO"]
synonym: "ASPM-RELATED CONDITION" EXACT []
synonym: "MCPH5" EXACT []
synonym: "primary autosomal recessive microcephaly 5 with simplified gyral pattern" NARROW []
xref: MESH:C563871
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070281
name: primary autosomal recessive microcephaly 19
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29036432 "DO"]
synonym: "COPB2-RELATED CONDITION" BROAD []
synonym: "MCPH19" EXACT []
xref: MIM:617800
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070282
name: primary autosomal recessive microcephaly 8
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22521416 "DO"]
synonym: "CEP135-RELATED CONDITION" EXACT []
synonym: "MCPH8" EXACT []
xref: MIM:614673
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070283
name: primary autosomal recessive microcephaly 13
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24748105 "DO"]
synonym: "CENPE-RELATED CONDITION" EXACT []
synonym: "MCPH13" EXACT []
synonym: "MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE" EXACT []
xref: MIM:616051
xref: MONDO:0014473
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070284
name: primary autosomal recessive microcephaly 12
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23918663 "DO"]
synonym: "MCPH12" EXACT []
xref: MIM:616080
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070285
name: primary autosomal recessive microcephaly 1
alt_id: MIM:251200
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12046007 "DO"]
synonym: "MCPH1" EXACT []
synonym: "PCC syndrome" EXACT []
synonym: "premature chromosome condensation syndrome" EXACT []
synonym: "premature chromosome condensation with microcephaly and mental retardation" EXACT []
xref: MESH:C565384
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070286
name: primary autosomal recessive microcephaly 3
alt_id: MIM:604804
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15793586 "DO"]
synonym: "CDK5RAP2-RELATED CONDITION" EXACT []
synonym: "MCPH3" EXACT []
synonym: "MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE" EXACT []
xref: MESH:C565746
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070287
name: primary autosomal recessive microcephaly 11
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23418308 "DO"]
synonym: "MCPH11" EXACT []
xref: MIM:615414
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070288
name: primary autosomal recessive microcephaly 17
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27453578 "DO"]
synonym: "MCPH17" EXACT []
xref: MIM:617090
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070289
name: primary autosomal recessive microcephaly 16
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25259927 "DO"]
synonym: "MCPH16" EXACT []
synonym: "Microcephaly 16, primary, autosomal recessive" EXACT []
xref: MIM:616681
xref: MONDO:0014730
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070290
name: primary autosomal recessive microcephaly 6
alt_id: MIM:608393
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15793586 "DO"]
synonym: "CENPJ-related disorder" BROAD []
synonym: "MCPH6" EXACT []
xref: MESH:C564247
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070291
name: primary autosomal recessive microcephaly 4
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22983954 "DO"]
synonym: "MCPH4" EXACT []
xref: MESH:C565792
xref: MIM:604321
xref: MONDO:0011437
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070292
name: primary autosomal recessive microcephaly 9
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20598275 "DO"]
synonym: "CEP152-RELATED CONDITION" BROAD []
synonym: "CEP152-related disorder" BROAD []
synonym: "CEP152-related disorders" BROAD []
synonym: "MCPH9" EXACT []
xref: MIM:614852
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070293
name: primary autosomal recessive microcephaly 2 with or without cortical malformations
alt_id: MIM:604317
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20890279 "DO"]
synonym: "MCPH2" EXACT []
synonym: "MICROCEPHALY, CORTICAL MALFORMATIONS, AND INTELLECTUAL DISABILITY" NARROW []
synonym: "primary autosomal recessive microcephaly 2" EXACT []
synonym: "primary microcephaly 2 with or without cortical malformations" EXACT []
synonym: "WDR62-RELATED CONDITION" EXACT []
xref: MESH:C565794
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070294
name: primary autosomal recessive microcephaly 10
def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23178126 "DO"]
synonym: "MCPH10" EXACT []
xref: MIM:615095
is_a: DOID:0070296 ! primary autosomal recessive microcephaly

[Term]
id: DOID:0070295
name: primary autosomal dominant microcephaly 18
def: "A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27008544 "DO"]
synonym: "MCPH18" EXACT []
synonym: "WDFY3-RELATED CONDITION" EXACT []
xref: MIM:617520
is_a: DOID:0070297 ! primary microcephaly
is_a: DOID:14725 ! autosomal dominant microcephaly

[Term]
id: DOID:0070296
name: primary autosomal recessive microcephaly
def: "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15806441 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28912110 "DO"]
synonym: "MCPH" EXACT []
synonym: "microcephalia vera" EXACT []
synonym: "microcephaly vera" EXACT []
synonym: "primary hereditary microcephaly" EXACT []
synonym: "true microcephaly" EXACT []
xref: GARD:12117
xref: MESH:C579935
xref: MIM:PS251200
xref: ORDO:2512
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070297 ! primary microcephaly

[Term]
id: DOID:0070297
name: primary microcephaly
def: "A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28912110 "DO"]
is_a: DOID:10907 ! microcephaly

[Term]
id: DOID:0070298
name: multiple epiphyseal dysplasia 2
def: "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8528240 "DO"]
synonym: "COL9A2-RELATED CONDITION" BROAD []
synonym: "COL9A2-related disorder" BROAD []
synonym: "EDM2" EXACT []
xref: MESH:C535502
xref: MIM:600204
xref: MONDO:0010844
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070305 ! multiple epiphyseal dysplasia due to collagen 9 anomaly

[Term]
id: DOID:0070299
name: multiple epiphyseal dysplasia 5
alt_id: MIM:607078
def: "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11479597 "DO"]
synonym: "BHMED" EXACT []
synonym: "bilateral hereditary microepiphyseal dysplasia" EXACT []
synonym: "EDM5" EXACT []
synonym: "multiple epiphyseal dysplasia, MATN3-related" EXACT []
xref: GARD:9794
xref: MESH:C535505
xref: ORDO:93311
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12721 ! multiple epiphyseal dysplasia

[Term]
id: DOID:0070300
name: multiple epiphyseal dysplasia 4
def: "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10465113 "DO"]
synonym: "autosomal recessive multiple epiphyseal dysplasia" EXACT []
synonym: "EDM4" EXACT []
synonym: "MED4" EXACT []
synonym: "multiple epiphyseal dysplasia with bilateral patellae" EXACT []
synonym: "Multiple epiphyseal dysplasia with bilayered patellae" EXACT []
synonym: "Multiple epiphyseal dysplasia with clubfoot" EXACT []
synonym: "Multiple epiphyseal dysplasia with double-layered patella" EXACT []
synonym: "polyepiphyseal dysplasia type 4" EXACT []
synonym: "rMED" EXACT []
xref: GARD:9793
xref: MESH:C535504
xref: MIM:226900
xref: ORDO:93307
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12721 ! multiple epiphyseal dysplasia

[Term]
id: DOID:0070301
name: multiple epiphyseal dysplasia 6
def: "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11565064 "DO"]
synonym: "COL9A1-RELATED CONDITION" BROAD []
synonym: "COL9A1-RELATED DISORDER" BROAD []
synonym: "EDM6" EXACT []
xref: MIM:614135
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070305 ! multiple epiphyseal dysplasia due to collagen 9 anomaly

[Term]
id: DOID:0070302
name: multiple epiphyseal dysplasia 7
def: "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28742282 "DO"]
synonym: "EDM7" EXACT []
xref: MIM:617719
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12721 ! multiple epiphyseal dysplasia

[Term]
id: DOID:0070303
name: multiple epiphyseal dysplasia 1
alt_id: MIM:132400
def: "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7670471 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7670472 "DO"]
synonym: "EDM1" EXACT []
synonym: "EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE" NARROW []
synonym: "epiphyseal dysplasia, Ribbing type" NARROW []
synonym: "MED1" EXACT []
synonym: "multiple epiphyseal dysplasia 1, mild" NARROW []
synonym: "multiple epiphyseal dysplasia, cartilage oligomeric matrix protein related" EXACT []
synonym: "MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE" NARROW []
synonym: "multiple epiphyseal dysplasia, COMP-related" EXACT []
synonym: "MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1" EXACT []
synonym: "polyepiphyseal dysplasia type 1" EXACT []
xref: GARD:2180
xref: MESH:C535501
xref: ORDO:93308
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12721 ! multiple epiphyseal dysplasia

[Term]
id: DOID:0070304
name: multiple epiphyseal dysplasia 3
alt_id: MIM:600969
def: "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10090888 "DO"]
synonym: "EDM3" EXACT []
synonym: "multiple epiphyseal dysplasia 3 with myopathy" NARROW []
synonym: "multiple epiphyseal dysplasia 3 with or without myopathy" EXACT []
xref: MESH:C535503
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070305 ! multiple epiphyseal dysplasia due to collagen 9 anomaly

[Term]
id: DOID:0070305
name: multiple epiphyseal dysplasia due to collagen 9 anomaly
def: "A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10090888 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11891674 "DO"]
synonym: "COL9A2-related disorder" NARROW []
xref: ORDO:166002
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12721 ! multiple epiphyseal dysplasia

[Term]
id: DOID:0070306
name: post-cardiac arrest syndrome
def: "A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20395899 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=15365608 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=18963350 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=29055751 "DO"]
synonym: "PCAS" EXACT []
synonym: "post cardiac syndrome" EXACT []
synonym: "postresuscitation disease" EXACT []
xref: MESH:D000080942
is_a: DOID:0060319 ! cardiac arrest
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0070307
name: craniolenticulosutural dysplasia
alt_id: MIM:607812
def: "A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. (DO)" [https://en.wikipedia.org/wiki/Cranio%E2%80%93lenticulo%E2%80%93sutural_dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=16980979 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=29161034 "DO"]
synonym: "Boyadjiev-Jabs syndrome" EXACT []
synonym: "CLSD" EXACT []
synonym: "cranio-lenticulo-sutural dysplasia, CLSD" EXACT []
xref: MESH:C564332
xref: ORDO:50814
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0070308
name: rippling muscle disease 1
alt_id: MIM:600332
def: "A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3697883/ "DO"]
synonym: "RMD1" EXACT []
xref: MESH:C535686
is_a: DOID:66 ! muscle tissue disease

[Term]
id: DOID:0070309
name: absence epilepsy
def: "An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3697883/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/15800200 "DO"]
synonym: "absence epilepsies" EXACT []
synonym: "absence seizure" EXACT []
synonym: "Absence Seizure Disorder" EXACT []
synonym: "Absence Seizure Disorders" EXACT []
synonym: "absence seizures" EXACT []
synonym: "GENERALIZED NON-MOTOR (ABSENCE) SEIZURE" EXACT []
is_a: DOID:0050701 ! electroclinical syndrome

[Term]
id: DOID:0070310
name: drug-induced hearing loss
def: "A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/?term=20301595 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=25629145 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=29471610 "DO"]
synonym: "antidepressant-induced hearing impairment" NARROW []
synonym: "ototoxicity" EXACT []
xref: EFO:0006324
xref: EFO:0006951
xref: MESH:D000081015
is_a: DOID:0050563 ! nonsyndromic deafness

[Term]
id: DOID:0070311
name: oligoasthenoteratozoospermia
def: "A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility. (DO)" [https://en.wiktionary.org/wiki/oligoasthenoteratozoospermia "DO", https://www.ncbi.nlm.nih.gov/pubmed/23628110 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25781171 "DO"]
synonym: "OAT" EXACT []
synonym: "oligoasthenoteratospermia" EXACT []
synonym: "oligoasthenoteratozoospermias" EXACT []
is_a: DOID:14228 ! oligospermia
is_a: DOID:9001513 ! Asthenozoospermia
is_a: DOID:9002321 ! Teratozoospermia

[Term]
id: DOID:0070313
name: thiamine deficiency disease
def: "A nutritional deficiency disease that is characterized by low levels of thiamine. (DO)" [https://en.wikipedia.org/wiki/Thiamine_deficiency "DO"]
synonym: "thiamine deficiencies" EXACT []
synonym: "thiamine deficiency" EXACT []
xref: EFO:0008569
xref: EFO:1000837
xref: MESH:D013832
xref: NCI:C34418
is_a: DOID:9002785 ! Vitamin B Deficiency

[Term]
id: DOID:0070314
name: obstructive nephropathy
def: "A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction. (DO)" [https://en.wikipedia.org/wiki/Obstructive_uropathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/24023768 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25402279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26667236 "DO"]
synonym: "CON" EXACT []
synonym: "congenital obstructive nephropathy" EXACT []
xref: NCI:C120902
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:0070315
name: hypoplastic right heart syndrome
def: "A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24932961 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28009100 "DO"]
xref: GARD:2922
xref: ICD10CM:Q22.6
xref: NCI:C99053
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:0070316
name: Miura type epiphyseal chondrodysplasia
def: "A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24057292 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24259409 "DO"]
synonym: "ECDM" EXACT []
synonym: "Miura type of epiphyseal chondrodysplasia" EXACT []
synonym: "tall stature-scoliosis-macrodactyly of the great toes syndrome" EXACT []
synonym: "tall stature-scoliosis-macrodactyly of the halluces syndrome" EXACT []
xref: MIM:615923
xref: ORDO:329191
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080006 ! bone development disease
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0070317
name: wet beriberi
def: "A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath. (DO)" [https://en.wikipedia.org/wiki/Thiamine_deficiency "DO", https://medlineplus.gov/ency/article/000339.htm "DO", https://rarediseases.info.nih.gov/diseases/9948/beriberi "DO"]
xref: ICD10CM:E51.12
is_a: DOID:13725 ! beriberi

[Term]
id: DOID:0070318
name: dry beriberi
def: "A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting. (DO)" [https://en.wikipedia.org/wiki/Thiamine_deficiency "DO", https://medlineplus.gov/ency/article/000339.htm "DO", https://rarediseases.info.nih.gov/diseases/9948/beriberi "DO"]
xref: ICD10CM:E51.11
is_a: DOID:13725 ! beriberi

[Term]
id: DOID:0070319
name: miliaria pustulosa
def: "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection. (DO)" [http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html "DO", https://en.wikipedia.org/wiki/Miliaria "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO"]
is_a: DOID:1382 ! miliaria

[Term]
id: DOID:0070320
name: miliaria profunda
def: "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. (DO)" [http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html "DO", https://en.wikipedia.org/wiki/Miliaria "DO", https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO"]
xref: ICD10CM:L74.2
xref: SNOMEDCT_US_2020_03_01:47317002
is_a: DOID:1382 ! miliaria

[Term]
id: DOID:0070321
name: miliaria crystallina
def: "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum. (DO)" [http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html "DO", https://en.wikipedia.org/wiki/Miliaria "DO", https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO"]
synonym: "sudamina" EXACT []
xref: ICD10CM:L74.1
is_a: DOID:1382 ! miliaria

[Term]
id: DOID:0070322
name: childhood hepatocellular carcinoma
def: "A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17714939 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28144610 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30254403 "DO"]
synonym: "pediatric hepatocellular carcinoma" EXACT []
xref: GARD:9331
xref: NCI:C7955
xref: ORDO:33402
is_a: DOID:684 ! hepatocellular carcinoma

[Term]
id: DOID:0070323
name: childhood acute myeloid leukemia
def: "A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. (DO)" [http://www.danafarberbostonchildrens.org/conditions/leukemia-and-lymphoma/acute-myelogenous-leukemia.aspx "DO", https://en.wikipedia.org/wiki/Acute_myeloid_leukemia "DO", https://www.cancer.gov/types/leukemia/patient/child-aml-treatment-pdq "DO"]
synonym: "childhood acute myeloid leukaemia" EXACT []
synonym: "childhood acute myeloid leukemia with maturation" NARROW []
synonym: "paediatric acute myeloid leukaemia" EXACT []
synonym: "pediatric acute myeloid leukemia" EXACT []
xref: EFO:0000330
xref: EFO:1001945
xref: ICD-O:M9861/3
xref: NCI:C9160
is_a: DOID:7757 ! childhood leukemia
is_a: DOID:9119 ! acute myeloid leukemia

[Term]
id: DOID:0070324
name: systemic Epstein-Barr virus positive T-cell lymphoma of childhood
def: "A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood. (DO)" [https://en.wikipedia.org/wiki/Epstein-Barr_virus-associated_lymphoproliferative_diseases "DO", https://www.ncbi.nlm.nih.gov/pubmed/30931288 "DO"]
synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT []
synonym: "systemic EBV-positive T-cell lymphoma of childhood" EXACT []
xref: EFO:1000228
xref: ICDO:9724/3
xref: ICD-O:M9724/3
xref: NCI:C80374
xref: ORDO:364033
is_a: DOID:5823 ! childhood lymphoma

[Term]
id: DOID:0070325
name: malignant childhood adrenal gland pheochromocytoma
def: "An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28324046 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28752085 "DO"]
synonym: "malignant pediatric adrenal gland pheochromocytoma" EXACT []
xref: GARD:9368
xref: ICD-O:M8700/3
xref: NCI:C118822
is_a: DOID:0050892 ! adrenal gland pheochromocytoma

[Term]
id: DOID:0070326
name: spitzoid melanoma
def: "A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377413/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/25666674 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25834363 "DO"]
synonym: "atypical spitz nevus" EXACT []
xref: NCI:C136825
is_a: DOID:8923 ! skin melanoma

[Term]
id: DOID:0070327
name: melanoma in congenital melanocytic nevus
def: "A skin melanoma that arises from a congenital melanocytic nevus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27517357 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28078671 "DO"]
synonym: "malignant melanoma in congenital melanocytic nevus" EXACT []
xref: GARD:2469
xref: ICDO:8761/3
xref: ICD-O:M8761/3
xref: NCI:C48613
is_a: DOID:8923 ! skin melanoma

[Term]
id: DOID:0070328
name: adult hepatocellular carcinoma
def: "A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation. (DO)" [https://www.cancer.gov/types/liver/patient/about-adult-liver-cancer-pdq "DO", https://www.ncbi.nlm.nih.gov/pubmed/25979220 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28761617 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30254403 "DO"]
synonym: "adult hepatoma" EXACT []
synonym: "adult liver cell carcinoma" EXACT []
synonym: "adult primary hepatocellular carcinoma" EXACT []
synonym: "NCI:C7956" EXACT []
xref: ORDO:210159
is_a: DOID:684 ! hepatocellular carcinoma

[Term]
id: DOID:0070329
name: mitochondrial DNA depletion syndrome
def: "A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29344903 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29950321 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=35698 "DO"]
synonym: "mitochondrial DNA depletion syndromes" EXACT []
synonym: "mtDNA depletion syndrome" EXACT []
xref: GARD:13643
xref: MIM:PS603041
xref: ORDO:35698
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:0070330
name: multiple mitochondrial dysfunctions syndrome
def: "A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/24462711 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28161430 "DO"]
synonym: "fatal multiple mitochondrial dysfunctions syndrome" EXACT []
synonym: "fatal multiple mitochondrial dysfunction syndrome" EXACT []
synonym: "MMDS" EXACT []
synonym: "multiple mitochondrial dysfunctions syndromes" EXACT []
xref: GARD:12632
xref: MESH:C565304
xref: MIM:PS605711
xref: ORDO:289573
is_a: DOID:225 ! syndrome
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:0070331
name: mitochondrial DNA depletion syndrome 8b
alt_id: MESH:C536350
alt_id: MIM:277320
def: "A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30373120 "DO", https://www.omim.org/entry/612075 "DO"]
synonym: "familial visceral myopathy, external ophthalmoplegia" EXACT []
synonym: "familial visceral myopathy, with external ophthalmoplegia" EXACT []
synonym: "intestinal pseudoobstruction with external ophthalmoplegia" EXACT []
synonym: "mitochondrial DNA depletion syndrome 8B (MNGIE type)" NARROW []
synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related" NARROW []
synonym: "MTDPS8B" NARROW []
synonym: "oculogastrointestinal muscular dystrophy" EXACT []
xref: MIM:612075
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11719 ! oculopharyngeal muscular dystrophy
is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type
is_a: DOID:9002025 ! Familial Visceral Myopathy

[Term]
id: DOID:0070332
name: multiple mitochondrial dysfunctions syndrome 6
def: "A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29576218 "DO", https://www.omim.org/entry/617954 "DO"]
synonym: "MMDS6" EXACT []
synonym: "PMPCB-RELATED MITOCHONDRIAL DISORDER" EXACT []
xref: MIM:617954
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome

[Term]
id: DOID:0070333
name: breast implant-associated anaplastic large cell lymphoma
def: "A peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule. (DO)" [https://www.fda.gov/medical-devices/breast-implants/questions-and-answers-about-breast-implant-associated-anaplastic-large-cell-lymphoma-bia-alcl "DO", https://www.ncbi.nlm.nih.gov/pubmed/31166611 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31642879 "DO"]
is_a: DOID:0050749 ! peripheral T-cell lymphoma

[Term]
id: DOID:0070334
name: vegetable allergy
def: "A food allergy triggered by a vegetable food product. (DO)" [https://farrp.unl.edu/informallvegetables "DO"]
is_a: DOID:3044 ! food allergy
created_by: mtutaj
creation_date: 2019-06-25T14:19:37Z

[Term]
id: DOID:0070335
name: celery allergy
def: "A vegetable allergy triggered by celery (Apium graveolens). (DO)" [https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?lvl=0&id=4045 "DO"]
is_a: DOID:0070334 ! vegetable allergy

[Term]
id: DOID:0070336
name: arthrogryposis multiplex congenita-6
alt_id: DOID:9004972
def: "An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33376055/ "DO"]
synonym: "AMC6" EXACT []
xref: MIM:619334
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
created_by: mtutaj
creation_date: 2022-08-29T12:47:32Z

[Term]
id: DOID:0070337
name: epithelial recurrent erosion dystrophy
alt_id: MIM:122400
def: "An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity. (DO)" [https://www.omim.org/entry/122400 "DO"]
synonym: "COL17A1" EXACT []
synonym: "COL17A1-RELATED CONDITION" BROAD []
synonym: "ERED" EXACT []
synonym: "recurring hereditary corneal erosions" EXACT []
xref: MESH:C565155
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060440 ! epithelial and subepithelial dystrophy

[Term]
id: DOID:0070338
name: cerebellar hypoplasia
def: "A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed. (DO)" [https://en.wikipedia.org/wiki/Cerebellar_hypoplasia "DO", https://www.ninds.nih.gov/Disorders/All-Disorders/Cerebellar-Hypoplasia-Information-Page "DO"]
synonym: "congenital cerebellar hypoplasia" EXACT []
xref: GARD:1194
xref: MESH:C562568
xref: NCI:C98890
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:9006534 ! Nervous System Malformations
is_a: DOID:9008086 ! Developmental Disabilities
created_by: rgd
creation_date: 2016-08-09T00:00:00Z

[Term]
id: DOID:0070339
name: cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
alt_id: MIM:213000
def: "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31785787/ "DO"]
xref: ORDO:2246
is_a: DOID:0070338 ! cerebellar hypoplasia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0070340
name: classic citrullinemia
alt_id: MIM:215700
def: "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34. (DO)" [https://www.omim.org/entry/215700 "DO"]
synonym: "argininosuccinate synthase deficiency disease" EXACT []
synonym: "argininosuccinate synthetase deficiencies" EXACT []
synonym: "Argininosuccinate Synthetase Deficiency" EXACT []
synonym: "ASS deficiencies" EXACT []
synonym: "ASS Deficiency" EXACT []
synonym: "Citrullinemia 1" EXACT []
synonym: "citrullinemia type 1" EXACT []
synonym: "citrullinemia type I" EXACT []
synonym: "classical citrullinemia" EXACT []
synonym: "classical citrullinemias" EXACT []
synonym: "classic citrullinemias" EXACT []
synonym: "CTLN1" EXACT []
synonym: "CTNL1" EXACT []
xref: MESH:C538444
xref: NCI:C150601
xref: ORDO:247525
is_a: DOID:9273 ! citrullinemia
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0070341
name: neonatal-onset type II citrullinemia
alt_id: MIM:605814
def: "A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene. (DO)" [https://www.omim.org/entry/605814 "DO"]
synonym: "neonatal citrullinemia" EXACT []
synonym: "neonatal citrullinemias" EXACT []
synonym: "neonatal intrahepatic cholestasis caused by citrin deficiency" EXACT []
synonym: "neonatal-onset citrullinemia type 2" EXACT []
synonym: "neonatal-onset citrullinemia type II, with or without failure to thrive and dyslipidemia" EXACT []
synonym: "NICCD" EXACT []
synonym: "SLC25A13-RELATED CONDITION" BROAD []
xref: MESH:C536398
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9009138 ! Citrullinemia Type 2

[Term]
id: DOID:0070342
name: adult-onset type II citrullinemia
alt_id: MIM:603471
def: "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. (DO)" [https://www.omim.org/entry/603471?search=603471 "DO"]
synonym: "Adult-Onset Citrullinemia Type 2" EXACT []
synonym: "Citrin deficiency" EXACT []
synonym: "CTLN2" EXACT []
synonym: "Late-Onset Citrullinemia" EXACT []
synonym: "Late-Onset Citrullinemias" EXACT []
synonym: "SLC25A13-RELATED CONDITION" BROAD []
xref: MESH:C538053
is_a: DOID:9009138 ! Citrullinemia Type 2

[Term]
id: DOID:0070343
name: CSF1R-related brain malformation and osteopetrosis
def: "A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6506793/ "DO"]
synonym: "osteoporosis and infantile neuroaxonal dystrophy" EXACT []
xref: MIM:600329
is_a: DOID:2367 ! neuroaxonal dystrophy

[Term]
id: DOID:0070344
name: ocular tuberculosis
def: "A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_symptom inflamed eyes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664543/ "DO"]
synonym: "ocular tuberculoses" EXACT []
xref: EFO:1001070
xref: MESH:D014392
is_a: DOID:399 ! tuberculosis
is_a: DOID:9005473 ! Bacterial Eye Infections

[Term]
id: DOID:0070345
name: vertebral anomalies and variable endocrine and T-cell dysfunction
def: "A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29726930 "DO"]
synonym: "heterozygotes for TBX2 variants" EXACT []
synonym: "TBX2-related condition" BROAD []
synonym: "VETD" EXACT []
xref: MIM:618223
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2018-09-11T14:55:29Z

[Term]
id: DOID:0070346
name: neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
def: "A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/618571 "DO"]
synonym: "NDCAGF" EXACT []
xref: EFO:0010561
xref: MIM:618571
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006257 ! Growth Disorders
created_by: rgd
creation_date: 2017-02-14T00:00:00Z

[Term]
id: DOID:0070347
name: encephalopathy due to defective mitochondrial and peroxisomal fission 1
def: "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood. (DO)" [https://omim.org/entry/614388 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30850373 "DO"]
synonym: "DNM1L-RELATED DISORDERS" BROAD []
synonym: "EMPF" EXACT []
synonym: "EMPF1" EXACT []
synonym: "lethal encephalopathy due to defective mitochondrial and peroxisomal fission" EXACT []
synonym: "lethal encephalopathy due to defective mitochondrial and peroxisomal fission 1" EXACT []
xref: MIM:614388
is_a: DOID:225 ! syndrome
is_a: DOID:9009111 ! Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission

[Term]
id: DOID:0070348
name: spinal muscular atrophy with lower extremity predominant
def: "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-lower-extremity-predominance "DO"]
synonym: "SPINAL MUSCULAR ATROPHY WITH LOWER EXTREMITY PREDOMINANCE" EXACT []
synonym: "spinal muscular atrophy with predominant lower extremity" EXACT []
xref: MIM:PS158600
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12377 ! spinal muscular atrophy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:0070349
name: spinal muscular atrophy with lower extremity predominant 2A
def: "A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23664120/ "DO"]
synonym: "GOWER'S MUSCULAR DYSTROPHY" EXACT []
synonym: "SMALED2A" EXACT []
synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, AD" EXACT []
synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant" EXACT []
synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, childhood onset, autosomal dominant" EXACT []
synonym: "spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant" BROAD []
synonym: "spinal muscular atrophy with lower extremity predominance 2A" EXACT []
synonym: "spinal muscular atrophy with predominant lower extremity 2A" EXACT []
xref: MIM:615290
xref: NCI:C191766
is_a: DOID:0070348 ! spinal muscular atrophy with lower extremity predominant

[Term]
id: DOID:0070350
name: spinal muscular atrophy with lower extremity predominant 2B
alt_id: DOID:9002187
def: "A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28635954/ "DO"]
synonym: "SMALED2B" EXACT []
synonym: "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY PREDOMINANT 2, AUTOSOMAL DOMINANT" BROAD []
synonym: "spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant" EXACT []
synonym: "spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant" EXACT []
synonym: "spinal muscular atrophy with lower extremity predominance 2B" EXACT []
synonym: "spinal muscular atrophy with predominant lower extremity 2B" EXACT []
xref: EFO:0010264
xref: MIM:618291
xref: MONDO:0032660
is_a: DOID:0070348 ! spinal muscular atrophy with lower extremity predominant

[Term]
id: DOID:0070351
name: spinal muscular atrophy with lower extremity predominant 1
def: "A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20697106/ "DO"]
synonym: "Kugelberg-Welander syndrome, autosomal dominant" EXACT []
synonym: "lower extremity-predominant spinal muscular atrophy 1, autosomal dominant" EXACT []
synonym: "proximal juvenile spinal muscular atrophy, autosomal dominant" EXACT []
synonym: "SMA-LED" EXACT []
synonym: "SMALED1" EXACT []
synonym: "Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant" EXACT []
synonym: "spinal muscular atrophy with lower extremity predominance 1" EXACT []
synonym: "spinal muscular atrophy with predominant lower extremity 1" EXACT []
xref: MESH:C563560
xref: MIM:158600
xref: MONDO:0008026
xref: NCI:C191765
is_a: DOID:0070348 ! spinal muscular atrophy with lower extremity predominant

[Term]
id: DOID:0070352
name: stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
def: "A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30100084 "DO", https://www.omim.org/entry/618170 "DO"]
synonym: "CONDSIAS" EXACT []
synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES" EXACT []
xref: MIM:618170
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:0070353
name: cataract 47
alt_id: MIM:612018
def: "A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. (DO)" [https://www.omim.org/entry/612018 "DO"]
synonym: "CJMG" EXACT []
synonym: "CTRCT47" EXACT []
synonym: "juvenile cataract with microcornea" EXACT []
synonym: "juvenile cataract with microcornea and glucosuria" EXACT []
xref: MESH:C567434
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract
is_a: DOID:9432 ! renal glycosuria

[Term]
id: DOID:0070354
name: cataract 48
alt_id: DOID:9001214
def: "A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30290152 "DO", https://www.omim.org/entry/618415 "DO"]
synonym: "CTRCT48" EXACT []
xref: MIM:618415
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0070355
name: overactive bladder syndrome
alt_id: DOID:9004837
def: "A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11857671/ "DO", https://pubmed.ncbi.nlm.nih.gov/19937315/ "DO"]
synonym: "OAB" EXACT []
synonym: "Overactive Bladder" EXACT []
synonym: "Overactive Detrusor" EXACT []
synonym: "Overactive Detrusor Function" EXACT []
synonym: "Overactive Urinary Bladder" EXACT []
synonym: "urgency-frequency syndrome" EXACT []
synonym: "urge syndrome" EXACT []
xref: EFO:1000781
xref: ICD10CM:N32.81
xref: ICD9CM:596.51
xref: MESH:D053201
is_a: DOID:225 ! syndrome
is_a: DOID:365 ! bladder disease
is_a: DOID:9003962 ! Lower Urinary Tract Symptoms
created_by: mtutaj
creation_date: 2022-11-30T19:03:07Z

[Term]
id: DOID:0070356
name: visual impairment and progressive phthisis bulbi
def: "An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3. (DO)" [https://en.wikipedia.org/wiki/Phthisis_bulbi "DO", https://www.ncbi.nlm.nih.gov/pubmed/29771303 "DO", https://www.uniprot.org/diseases/DI-05463 "DO"]
synonym: "VIPB" EXACT []
xref: MIM:618283
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1432 ! blindness

[Term]
id: DOID:0070357
name: nephrotic syndrome type 20
def: "A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31732614 "DO", https://www.omim.org/entry/301028 "DO"]
synonym: "NPHS20" EXACT []
xref: MIM:301028
xref: MONDO:0026726
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0070358
name: primary biliary cholangitis 1
alt_id: DOID:9006007
def: "A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33. (DO)" [https://omim.org/entry/109720 "DO", https://pubmed.ncbi.nlm.nih.gov/19458352/ "DO"]
synonym: "PBC1" EXACT []
synonym: "Primary Biliary Cirrhosis 1" EXACT []
xref: MIM:109720
is_a: DOID:12236 ! primary biliary cholangitis
created_by: mtutaj
creation_date: 2022-07-27T16:45:25Z

[Term]
id: DOID:0070359
name: primary biliary cholangitis 2
alt_id: DOID:9001188
alt_id: MIM:613007
def: "A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3. (DO)" [https://omim.org/entry/613007 "DO", https://pubmed.ncbi.nlm.nih.gov/19458352/ "DO"]
synonym: "PBC2" EXACT []
synonym: "Primary Biliary Cirrhosis 2" EXACT []
xref: MESH:C567817
is_a: DOID:12236 ! primary biliary cholangitis
created_by: mtutaj
creation_date: 2022-07-27T16:50:00Z

[Term]
id: DOID:0070360
name: primary biliary cholangitis 3
alt_id: DOID:9000199
alt_id: MIM:613008
def: "A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. (DO)" [https://omim.org/entry/613008 "DO", https://pubmed.ncbi.nlm.nih.gov/19458352/ "DO"]
synonym: "IL12RB2-RELATED CONDITION" EXACT []
synonym: "PBC3" EXACT []
synonym: "Primary Biliary Cirrhosis 3" EXACT []
xref: MESH:C567816
is_a: DOID:12236 ! primary biliary cholangitis
created_by: mtutaj
creation_date: 2022-07-27T16:50:12Z

[Term]
id: DOID:0070361
name: primary biliary cholangitis 4
alt_id: DOID:9007947
def: "A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32. (DO)" [https://omim.org/entry/614220 "DO", https://pubmed.ncbi.nlm.nih.gov/20639879/ "DO"]
synonym: "PBC4" EXACT []
synonym: "Primary Biliary Cirrhosis 4" EXACT []
xref: MIM:614220
is_a: DOID:12236 ! primary biliary cholangitis
created_by: mtutaj
creation_date: 2022-07-27T16:50:24Z

[Term]
id: DOID:0070362
name: primary biliary cholangitis 5
alt_id: DOID:9006752
def: "A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21. (DO)" [https://omim.org/entry/614221 "DO", https://pubmed.ncbi.nlm.nih.gov/20639879/ "DO"]
synonym: "PBC5" EXACT []
synonym: "Primary Biliary Cirrhosis 5" EXACT []
xref: MIM:614221
is_a: DOID:12236 ! primary biliary cholangitis
created_by: mtutaj
creation_date: 2022-07-27T16:50:36Z

[Term]
id: DOID:0070363
name: bradyopsia 1
alt_id: DOID:9000878
def: "A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19818506/ "DO", https://www.omim.org/entry/608415 "DO"]
synonym: "PERRS1" EXACT []
synonym: "prolonged electroretinal response suppression 1" EXACT []
xref: MIM:608415
is_a: DOID:0050335 ! bradyopsia
created_by: mtutaj
creation_date: 2023-05-31T12:16:10Z

[Term]
id: DOID:0070364
name: bradyopsia 2
alt_id: DOID:9003661
def: "A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19818506/ "DO", https://www.omim.org/entry/620344 "DO"]
synonym: "PERRS2" EXACT []
synonym: "prolonged electroretinal response suppression-2" EXACT []
xref: MIM:620344
is_a: DOID:0050335 ! bradyopsia
created_by: mtutaj
creation_date: 2023-05-31T12:18:09Z

[Term]
id: DOID:0070365
name: nevoid basal cell carcinoma syndrome 1
alt_id: DOID:9005987
def: "A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8658145/ "DO", https://www.omim.org/entry/109400 "DO"]
synonym: "basal cell nevus syndrome 1" EXACT []
synonym: "BCNS1" EXACT []
xref: MIM:109400
xref: MONDO:0958174
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2512 ! nevoid basal cell carcinoma syndrome
created_by: mtutaj
creation_date: 2023-05-31T12:19:53Z

[Term]
id: DOID:0070366
name: nevoid basal cell carcinoma syndrome 2
alt_id: DOID:9006702
def: "A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19533801/ "DO", https://www.omim.org/entry/620343 "DO"]
synonym: "basal cell nevus syndrome 2" EXACT []
synonym: "BCNS2" EXACT []
synonym: "NBCCS2" EXACT []
xref: MIM:620343
is_a: DOID:2512 ! nevoid basal cell carcinoma syndrome
created_by: mtutaj
creation_date: 2023-05-31T12:24:43Z

[Term]
id: DOID:0070367
name: leukoencephalopathy with vanishing white matter 5
alt_id: DOID:9005314
def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12325082/ "DO", https://pubmed.ncbi.nlm.nih.gov/34745209/ "DO", https://www.omim.org/entry/620315 "DO"]
synonym: "CLE" EXACT []
synonym: "Cree leukoencephalopathy" EXACT []
synonym: "EIF2B5-RELATED CONDITION" EXACT []
synonym: "VWM5" EXACT []
xref: MIM:620315
xref: ORDO:99854
is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter
created_by: mtutaj
creation_date: 2023-05-31T12:28:07Z

[Term]
id: DOID:0070368
name: autosomal recessive chronic granulomatous disease 5
alt_id: DOID:9004089
def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30312704/ "DO", https://pubmed.ncbi.nlm.nih.gov/30361506/ "DO"]
synonym: "CGD5" EXACT []
synonym: "chronic granulomatous disease due to CYBC1 deficiency" EXACT []
xref: MIM:618935
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3265 ! chronic granulomatous disease
created_by: mtutaj
creation_date: 2023-03-31T15:44:55Z

[Term]
id: DOID:0070369
name: restrictive dermopathy 1
def: "A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15317753 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20101687 "DO"]
synonym: "lethal restrictive dermopathy 1" EXACT []
synonym: "RSDM1" EXACT []
synonym: "ZMPSTE24-related disorder" BROAD []
xref: MIM:275210
xref: MONDO:0800042
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060762 ! restrictive dermopathy
created_by: mtutaj
creation_date: 2023-03-31T15:46:56Z

[Term]
id: DOID:0070370
name: restrictive dermopathy 2
def: "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15317753/ "DO"]
synonym: "lethal restrictive dermopathy 2" EXACT []
synonym: "RSDM2" EXACT []
xref: MIM:619793
is_a: DOID:0060762 ! restrictive dermopathy
created_by: mtutaj
creation_date: 2023-03-31T15:47:09Z

[Term]
id: DOID:0070371
name: leukoencephalopathy with vanishing white matter 4
alt_id: DOID:9000160
def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34745209/ "DO", https://www.omim.org/entry/620314 "DO"]
synonym: "leukoencephalopathy with vanishing white matter 4, with or without ovarian failure" EXACT []
synonym: "VWM4" EXACT []
xref: MIM:620314
xref: MONDO:0957872
is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter
created_by: mtutaj
creation_date: 2023-05-31T12:31:42Z

[Term]
id: DOID:0070372
name: leukoencephalopathy with vanishing white matter 3
alt_id: DOID:9008859
def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34745209/ "DO", https://www.omim.org/entry/620313 "DO"]
synonym: "VWM3" EXACT []
xref: MIM:620313
is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter
created_by: mtutaj
creation_date: 2023-05-31T12:33:34Z

[Term]
id: DOID:0070373
name: leukoencephalopathy with vanishing white matter 2
alt_id: DOID:9002009
def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34745209/ "DO", https://www.omim.org/entry/620312 "DO"]
synonym: "VWM2" EXACT []
xref: MIM:620312
is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter
created_by: mtutaj
creation_date: 2023-05-31T12:36:14Z

[Term]
id: DOID:0070374
name: leukoencephalopathy with vanishing white matter 1
alt_id: DOID:9005348
def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34745209/ "DO", https://www.omim.org/entry/603896 "DO"]
synonym: "VWM1" EXACT []
xref: MIM:603896
is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter
created_by: mtutaj
creation_date: 2023-05-31T12:38:06Z

[Term]
id: DOID:0070375
name: developmental and epileptic encephalopathy 64
alt_id: DOID:9009181
def: "A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29276004/ "DO", https://pubmed.ncbi.nlm.nih.gov/29768694/ "DO", https://pubmed.ncbi.nlm.nih.gov/33504645/ "DO", https://pubmed.ncbi.nlm.nih.gov/37090824/ "DO"]
synonym: "DEE64" EXACT []
synonym: "early infantile epileptic encephalopathy 64" EXACT []
synonym: "EIEE64" EXACT []
synonym: "RHOBTB2-RELATED CONDITION" EXACT []
xref: MIM:618004
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T12:40:27Z

[Term]
id: DOID:0070376
name: developmental and epileptic encephalopathy 31B
def: "A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34172529/ "DO"]
synonym: "DEE31B" EXACT []
synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT []
xref: MIM:620352
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T12:55:23Z

[Term]
id: DOID:0070377
name: developmental and epileptic encephalopathy 96
alt_id: DOID:9000688
def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31675180/ "DO"]
synonym: "DEE96" EXACT []
xref: MIM:619340
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:07:24Z

[Term]
id: DOID:0070378
name: developmental and epileptic encephalopathy 109
alt_id: DOID:9006979
def: "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34788397/ "DO"]
synonym: "DEE109" EXACT []
xref: MIM:620145
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:12:10Z

[Term]
id: DOID:0070379
name: developmental and epileptic encephalopathy 6B
alt_id: DOID:9008265
def: "A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. This disease has the same genetic basis as Dravet syndrome (DOID:0080422) but is more severe. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28794249/ "DO"]
synonym: "DEE6B" EXACT []
synonym: "developmental and epileptic encephalopathy 6B, non-Dravet" EXACT []
xref: MIM:619317
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:13:59Z

[Term]
id: DOID:0070380
name: developmental and epileptic encephalopathy 85
alt_id: DOID:9008619
def: "A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28166369/ "DO", https://pubmed.ncbi.nlm.nih.gov/31334757/ "DO"]
synonym: "DEE85" EXACT []
synonym: "developmental and epileptic encephalopathy-85 with or without midline brain defects" EXACT []
synonym: "early infantile epileptic encephalopathy 85" EXACT []
synonym: "early infantile epileptic encephalopathy 85, with or without midline brain defects" EXACT []
synonym: "EIEE85" EXACT []
synonym: "SMC1A-RELATED COHESINOPATHY" BROAD []
xref: MIM:301044
xref: NCI:C202548
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:15:46Z

[Term]
id: DOID:0070381
name: developmental and epileptic encephalopathy 90
alt_id: DOID:9000663
def: "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33245860/ "DO"]
synonym: "DEE90" EXACT []
xref: MIM:301058
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:17:21Z

[Term]
id: DOID:0070382
name: developmental and epileptic encephalopathy 95
alt_id: DOID:9004284
def: "A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30269814/ "DO"]
synonym: "DEE95" EXACT []
synonym: "early infantile epileptic encephalopathy 95" EXACT []
synonym: "glycosylphosphatidylinositol biosynthesis defect 18" EXACT []
synonym: "GPIBD18" EXACT []
synonym: "GPI biosynthesis defect-18" EXACT []
xref: MIM:618143
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
created_by: mtutaj
creation_date: 2023-05-31T13:19:37Z

[Term]
id: DOID:0070383
name: developmental and epileptic encephalopathy 97
alt_id: DOID:9000553
def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33131106/ "DO"]
synonym: "DEE97" EXACT []
synonym: "early infantile epileptic encephalopathy 97" EXACT []
xref: MIM:619561
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:21:41Z

[Term]
id: DOID:0070384
name: developmental and epileptic encephalopathy 98
alt_id: DOID:9001342
def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33880529/ "DO"]
synonym: "DEE98" EXACT []
synonym: "early infantile epileptic encephalopathy 98" EXACT []
xref: MIM:619605
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:23:31Z

[Term]
id: DOID:0070385
name: developmental and epileptic encephalopathy 99
alt_id: DOID:9001126
def: "A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33880529/ "DO"]
synonym: "DEE99" EXACT []
synonym: "early infantile epileptic encephalopathy 99" EXACT []
xref: MIM:619606
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:27:09Z

[Term]
id: DOID:0070386
name: developmental and epileptic encephalopathy 100
alt_id: DOID:9003577
def: "A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33280099/ "DO"]
synonym: "DEE100" EXACT []
synonym: "early infantile epileptic encephalopathy 100" EXACT []
xref: MIM:619777
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:31:06Z

[Term]
id: DOID:0070387
name: developmental and epileptic encephalopathy 101
alt_id: DOID:9003569
def: "A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34611970/ "DO"]
synonym: "DEE101" EXACT []
synonym: "early infantile epileptic encephalopathy 101" EXACT []
xref: MIM:619814
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:34:10Z

[Term]
id: DOID:0070388
name: developmental and epileptic encephalopathy 102
alt_id: DOID:9004423
def: "A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34605855/ "DO"]
synonym: "DEE102" EXACT []
synonym: "early infantile epileptic encephalopathy 102" EXACT []
xref: MIM:619881
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:44:27Z

[Term]
id: DOID:0070389
name: developmental and epileptic encephalopathy 103
alt_id: DOID:9005278
def: "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35314505/ "DO"]
synonym: "DEE103" EXACT []
synonym: "early infantile epileptic encephalopathy 103" EXACT []
synonym: "KCNC2-related condition" BROAD []
xref: MIM:619913
xref: MONDO:0030957
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:46:18Z

[Term]
id: DOID:0070390
name: developmental and epileptic encephalopathy 104
alt_id: DOID:9001426
def: "A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34909687/ "DO"]
synonym: "DEE104" EXACT []
synonym: "early infantile epileptic encephalopathy 104" EXACT []
xref: MIM:619970
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:47:54Z

[Term]
id: DOID:0070391
name: developmental and epileptic encephalopathy 105
alt_id: DOID:9002700
def: "A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33999436/ "DO"]
synonym: "DEE105" EXACT []
synonym: "Developmental and Epileptic Encephalopathy 105 with Hypopituitarism" EXACT []
synonym: "early infantile epileptic encephalopathy 105" EXACT []
xref: MIM:619983
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:9406 ! hypopituitarism
created_by: mtutaj
creation_date: 2023-05-31T13:49:30Z

[Term]
id: DOID:0070392
name: developmental and epileptic encephalopathy 106
alt_id: DOID:9003512
def: "A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33473208/ "DO"]
synonym: "DEE106" EXACT []
synonym: "early infantile epileptic encephalopathy 106" EXACT []
xref: MIM:620028
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:51:23Z

[Term]
id: DOID:0070393
name: developmental and epileptic encephalopathy 107
alt_id: DOID:9004803
def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26235277/ "DO", https://pubmed.ncbi.nlm.nih.gov/28097321/ "DO", https://pubmed.ncbi.nlm.nih.gov/33189936/ "DO"]
synonym: "DEE107" EXACT []
synonym: "early infantile epileptic encephalopathy 107" EXACT []
xref: MIM:620033
xref: NCI:C190869
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:52:52Z

[Term]
id: DOID:0070394
name: developmental and epileptic encephalopathy 108
alt_id: DOID:9006521
def: "A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34185323/ "DO", https://pubmed.ncbi.nlm.nih.gov/35095415/ "DO"]
synonym: "DEE108" EXACT []
synonym: "early infantile epileptic encephalopathy 108" EXACT []
xref: MIM:620115
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:55:17Z

[Term]
id: DOID:0070395
name: developmental and epileptic encephalopathy 110
alt_id: DOID:9005910
def: "A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35293990/ "DO"]
synonym: "DEE110" EXACT []
synonym: "early infantile epileptic encephalopathy 110" EXACT []
xref: MIM:620149
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-05-31T13:57:03Z

[Term]
id: DOID:0070396
name: progressive leukoencephalopathy with ovarian failure
alt_id: DOID:9006658
def: "An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24808023/ "DO"]
synonym: "LKENP" EXACT []
synonym: "ovarioleukodystrophy" RELATED []
xref: MIM:615889
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:1100 ! ovarian disease
is_a: DOID:9002704 ! Leukoencephalopathies
created_by: mtutaj
creation_date: 2023-06-29T20:38:22Z

[Term]
id: DOID:0070397
name: hypomyelinating leukodystrophy 23
alt_id: DOID:9000978
def: "A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33964137/ "DO"]
synonym: "HLD23" EXACT []
synonym: "Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy" EXACT []
xref: MIM:619688
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
created_by: mtutaj
creation_date: 2023-05-31T13:59:24Z

[Term]
id: DOID:0070398
name: hypomyelinating leukodystrophy 15
alt_id: DOID:9009193
def: "A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29576217/ "DO"]
synonym: "HLD15" EXACT []
xref: MIM:617951
xref: MONDO:0054782
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
created_by: mtutaj
creation_date: 2023-05-31T14:01:16Z

[Term]
id: DOID:0070399
name: hypomyelinating leukodystrophy 18
alt_id: DOID:9000521
def: "A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30620337/ "DO"]
synonym: "HLD18" EXACT []
xref: MIM:618404
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
created_by: mtutaj
creation_date: 2023-05-31T14:02:47Z

[Term]
id: DOID:0070400
name: hypomyelinating leukodystrophy 19
alt_id: DOID:9006466
def: "A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31587869/ "DO", https://pubmed.ncbi.nlm.nih.gov/33785861/ "DO"]
synonym: "HLD19" EXACT []
synonym: "hypomyelinating leukodystrophy 19, transient infantile" EXACT []
synonym: "TMEM63A-RELATED CONDITION" EXACT []
xref: MIM:618688
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
created_by: mtutaj
creation_date: 2023-05-31T14:04:36Z

[Term]
id: DOID:0070401
name: hypomyelinating leukodystrophy 25
alt_id: DOID:9001632
def: "A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35455965/ "DO", https://pubmed.ncbi.nlm.nih.gov/35953447/ "DO"]
synonym: "HLD25" EXACT []
xref: MIM:620243
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
created_by: mtutaj
creation_date: 2023-05-31T14:06:16Z

[Term]
id: DOID:0070402
name: hypomyelinating leukodystrophy 22
alt_id: DOID:9000735
def: "A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33313762/ "DO"]
synonym: "HLD22" EXACT []
xref: MIM:619328
xref: NCI:C201587
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
created_by: mtutaj
creation_date: 2023-05-31T14:07:46Z

[Term]
id: DOID:0070403
name: hypomyelinating leukodystrophy 26
alt_id: DOID:9008469
def: "A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35325049/ "DO"]
synonym: "Chondrodysplasia with hypomyelinating leukodystrophy" EXACT []
synonym: "HLD26" EXACT []
synonym: "Hypomyelinating leukodystrophy 26 with chondrodysplasia" EXACT []
xref: MIM:620269
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
is_a: DOID:2256 ! osteochondrodysplasia
created_by: mtutaj
creation_date: 2023-05-31T14:09:05Z

[Term]
id: DOID:0070404
name: hypomyelinating leukodystrophy 17
alt_id: DOID:9009183
def: "A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29215095/ "DO", https://pubmed.ncbi.nlm.nih.gov/35140751/ "DO"]
synonym: "HLD17" EXACT []
synonym: "Leukodystrophy, hypomyelinating, 17" EXACT []
xref: MIM:618006
xref: MONDO:0054817
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
created_by: mtutaj
creation_date: 2023-05-31T14:10:43Z

[Term]
id: DOID:0070405
name: hypomyelinating leukodystrophy 16
alt_id: DOID:9009170
def: "A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29186371/ "DO"]
synonym: "HLD16" EXACT []
xref: MIM:617964
xref: MONDO:0054791
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
created_by: mtutaj
creation_date: 2023-05-31T14:14:29Z

[Term]
id: DOID:0070406
name: hypomyelinating leukodystrophy 24
alt_id: DOID:9001753
def: "A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34403372/ "DO"]
synonym: "HLD24" EXACT []
xref: MIM:619851
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
created_by: mtutaj
creation_date: 2023-05-31T14:17:31Z

[Term]
id: DOID:0070407
name: hypomyelinating leukodystrophy 21
alt_id: DOID:9004862
def: "A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30584594/ "DO"]
synonym: "HLD21" EXACT []
xref: MIM:619310
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
created_by: mtutaj
creation_date: 2023-05-31T14:19:26Z

[Term]
id: DOID:0070408
name: Hengel-Maroofian-Schols syndrome
alt_id: DOID:9005952
def: "A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34022130/ "DO"]
synonym: "HEMARS" EXACT []
synonym: "NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES" EXACT []
xref: MIM:619641
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007428 ! Muscle Spasticity
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2023-05-31T14:21:28Z

[Term]
id: DOID:0070409
name: autosomal recessive spinocerebellar ataxia 28
alt_id: DOID:9000809
def: "An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31168944/ "DO"]
synonym: "SCAR28" EXACT []
xref: MIM:618800
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
created_by: mtutaj
creation_date: 2023-05-31T14:24:43Z

[Term]
id: DOID:0070410
name: autosomal recessive spinocerebellar ataxia 29
alt_id: DOID:9008984
def: "An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33764426/ "DO"]
synonym: "Barakat-van Ham-Kaya syndrome" EXACT []
synonym: "BAVAHAKA" EXACT []
synonym: "NEDHCA" EXACT []
synonym: "neurodevelopmental disorder with hypotonia and cerebellar ataxia" EXACT []
synonym: "SCAR29" EXACT []
xref: MIM:619389
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
created_by: mtutaj
creation_date: 2023-05-31T14:26:54Z

[Term]
id: DOID:0070411
name: autosomal recessive spinocerebellar ataxia 30
alt_id: DOID:9006343
def: "An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29764912/ "DO"]
synonym: "SCAR30" EXACT []
xref: MIM:619405
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
created_by: mtutaj
creation_date: 2023-05-31T14:28:57Z

[Term]
id: DOID:0070412
name: autosomal recessive spinocerebellar ataxia 31
alt_id: DOID:9009088
def: "An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34161705/ "DO"]
synonym: "SCAR31" EXACT []
xref: MIM:619422
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
created_by: mtutaj
creation_date: 2023-05-31T14:30:35Z

[Term]
id: DOID:0070413
name: autosomal recessive spinocerebellar ataxia 32
alt_id: DOID:9003435
def: "An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33889951/ "DO"]
synonym: "SCAR32" EXACT []
xref: MIM:619862
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
created_by: mtutaj
creation_date: 2023-05-31T14:33:04Z

[Term]
id: DOID:0070414
name: autosomal recessive spinocerebellar ataxia 33
alt_id: DOID:9006060
def: "An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27863452/ "DO"]
synonym: "SCAR33" EXACT []
xref: MIM:620208
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
created_by: mtutaj
creation_date: 2023-05-31T14:35:25Z

[Term]
id: DOID:0070415
name: brachycephaly, trichomegaly, and developmental delay
alt_id: DOID:9003486
def: "A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28257692/ "DO"]
synonym: "BTDD" EXACT []
synonym: "Macinnes syndrome" EXACT []
synonym: "MCINS" EXACT []
xref: MIM:617412
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:421 ! hair disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2023-05-31T14:36:57Z

[Term]
id: DOID:0070416
name: Luo-Schoch-Yamamoto syndrome
alt_id: DOID:9000444
def: "A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33864376/ "DO"]
synonym: "LUSYAM" EXACT []
synonym: "RNF2-ASSOCIATED NEURODEVELOPMENTAL CONDITION" EXACT []
xref: MIM:619460
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2023-05-31T14:41:01Z

[Term]
id: DOID:0070417
name: neurodevelopmental disorder with speech impairment and dysmorphic facies
alt_id: DOID:9001194
def: "A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32346159/ "DO"]
synonym: "NEDSID" EXACT []
synonym: "SETD1A-RELATED CONDITION" BROAD []
xref: MIM:619056
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:9001487 ! Facies
is_a: DOID:92 ! speech disorder
created_by: mtutaj
creation_date: 2023-05-31T14:44:25Z

[Term]
id: DOID:0070418
name: vertebral hypersegmentation and orofacial anomalies
alt_id: DOID:9004229
def: "A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31215115/ "DO"]
synonym: "VHO" EXACT []
xref: MIM:619122
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060564 ! spinal disease
is_a: DOID:225 ! syndrome
created_by: mtutaj
creation_date: 2023-05-31T14:48:16Z

[Term]
id: DOID:0070419
name: acrocardiofacial syndrome
alt_id: DOID:9001696
alt_id: MIM:600460
def: "A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20920258 "DO"]
synonym: "ACFS" EXACT []
synonym: "CCGE" EXACT []
synonym: "Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly" EXACT []
synonym: "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome" EXACT []
xref: GARD:1167
xref: MESH:C563936
xref: ORDO:2008
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:674 ! cleft palate
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9004795 ! Congenital Hand Deformities
created_by: mtutaj
creation_date: 2023-05-31T14:52:59Z

[Term]
id: DOID:0070420
name: developmental delay, hypotonia, and impaired language
alt_id: DOID:9000135
def: "An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35395208/ "DO"]
synonym: "DEDHIL" EXACT []
synonym: "FBXW7-RELATED CONDITION" EXACT []
xref: MIM:620012
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:9005466 ! Language Development Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2023-05-31T16:45:31Z

[Term]
id: DOID:0070421
name: neurodevelopmental disorder with spasticity and poor growth
alt_id: DOID:9009223
def: "An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29868776/ "DO"]
synonym: "NEDSG" EXACT []
xref: MIM:618076
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007428 ! Muscle Spasticity
created_by: mtutaj
creation_date: 2023-05-31T16:49:36Z

[Term]
id: DOID:0070422
name: syndromic X-linked intellectual disability Pilorge type
alt_id: DOID:9001972
def: "A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35294868/ "DO"]
synonym: "MRXSP" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Pilorge type" EXACT []
xref: MIM:301076
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
created_by: mtutaj
creation_date: 2023-05-31T16:54:32Z

[Term]
id: DOID:0070423
name: early onset progressive encephalopathy with brain atrophy and thin corpus callosum
alt_id: DOID:9000707
def: "An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27666370/ "DO", https://pubmed.ncbi.nlm.nih.gov/27666374/ "DO", https://pubmed.ncbi.nlm.nih.gov/36527993/ "DO"]
synonym: "PEBAT" EXACT []
synonym: "TBCD-RELATED CONDITION" EXACT []
xref: MIM:617193
xref: NCI:C202602
xref: ORDO:496641
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:9004462 ! Atrophy
is_a: DOID:9006534 ! Nervous System Malformations
created_by: mtutaj
creation_date: 2023-05-31T16:57:10Z

[Term]
id: DOID:0070424
name: combined oxidative phosphorylation deficiency 44
alt_id: DOID:9002715
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31944455/ "DO", https://pubmed.ncbi.nlm.nih.gov/36531759/ "DO"]
synonym: "COXPD44" EXACT []
synonym: "FASTKD2-RELATED CONDITION" EXACT []
xref: MIM:618855
xref: ORDO:166105
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2023-06-29T20:43:32Z

[Term]
id: DOID:0070425
name: combined oxidative phosphorylation deficiency 52
alt_id: DOID:9005483
def: "A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24498631/ "DO", https://pubmed.ncbi.nlm.nih.gov/33457206/ "DO"]
synonym: "COXPD52" EXACT []
xref: MIM:619386
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2023-06-29T20:45:20Z

[Term]
id: DOID:0070426
name: combined oxidative phosphorylation deficiency 53
alt_id: DOID:9005629
def: "A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33945503/ "DO", https://pubmed.ncbi.nlm.nih.gov/34038740/ "DO"]
synonym: "COXPD53" EXACT []
synonym: "Elbracht-Isikay syndrome" EXACT []
synonym: "global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation" EXACT []
xref: MIM:619423
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2023-06-29T20:47:04Z

[Term]
id: DOID:0070427
name: combined oxidative phosphorylation deficiency 54
alt_id: DOID:9006756
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34715011/ "DO"]
synonym: "COXPD54" EXACT []
xref: MIM:619737
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2023-06-29T20:49:06Z

[Term]
id: DOID:0070428
name: combined oxidative phosphorylation deficiency 55
alt_id: DOID:9001375
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33602924/ "DO"]
synonym: "COXPD55" EXACT []
xref: MIM:619743
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2023-06-29T20:50:24Z

[Term]
id: DOID:0070429
name: combined oxidative phosphorylation deficiency 56
alt_id: DOID:9009069
def: "A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35321494/ "DO"]
synonym: "COXPD56" EXACT []
xref: MIM:620139
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2023-06-29T20:51:57Z

[Term]
id: DOID:0070430
name: combined oxidative phosphorylation deficiency 57
alt_id: DOID:9001293
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35147173/ "DO"]
synonym: "COXPD57" EXACT []
xref: MIM:620167
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2023-06-29T20:53:27Z

[Term]
id: DOID:0070431
name: hyperphosphatasia with impaired intellectual development syndrome
alt_id: DOID:9005046
def: "An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. (DO)" [https://medlineplus.gov/genetics/condition/mabry-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/26219719/ "DO"]
synonym: "HPMRS" EXACT []
synonym: "hyperphosphatasia-intellectual disability syndrome" EXACT []
synonym: "hyperphosphatasia with intellectual disability syndrome" EXACT []
synonym: "hyperphosphatasia with mental retardation" EXACT []
synonym: "hyperphosphatasia with mental retardation syndrome" EXACT []
synonym: "Mabry disease" EXACT []
synonym: "Mabry syndrome" EXACT []
xref: MESH:C565495
xref: MIM:PS239300
xref: ORDO:247262
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:2485 ! phosphorus metabolism disease
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: mtutaj
creation_date: 2023-06-29T20:55:08Z

[Term]
id: DOID:0070432
name: hyperphosphatasia with impaired intellectual development syndrome 5
alt_id: DOID:9007551
def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27626616/ "DO"]
synonym: "glycosylphosphatidylinositol biosynthesis defect 11" EXACT []
synonym: "GPIBD11" EXACT []
synonym: "HPMRS5" EXACT []
synonym: "Hyperphosphatasia with Mental Retardation Syndrome 5" EXACT []
xref: MIM:616025
is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
created_by: mtutaj
creation_date: 2023-06-29T21:01:16Z

[Term]
id: DOID:0070433
name: hyperphosphatasia with impaired intellectual development syndrome 1
alt_id: DOID:9002100
def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20802478/ "DO", https://pubmed.ncbi.nlm.nih.gov/29310717/ "DO"]
synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2" EXACT []
synonym: "GPIBD2" EXACT []
synonym: "HPMRS1" EXACT []
synonym: "HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME 1" EXACT []
synonym: "Hyperphosphatasia with Mental Retardation Syndrome 1" EXACT []
synonym: "Mabry syndrome" EXACT []
xref: MIM:239300
is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
created_by: mtutaj
creation_date: 2023-06-29T21:06:04Z

[Term]
id: DOID:0070434
name: hyperphosphatasia with impaired intellectual development syndrome 2
alt_id: DOID:9003727
def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22683086/ "DO"]
synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6" EXACT []
synonym: "GPIBD6" EXACT []
synonym: "HPMRS2" EXACT []
synonym: "Hyperphosphatasia with Mental Retardation Syndrome 2" EXACT []
xref: MIM:614749
is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome
created_by: mtutaj
creation_date: 2023-06-29T21:07:30Z

[Term]
id: DOID:0070435
name: hyperphosphatasia with impaired intellectual development syndrome 3
alt_id: DOID:9000867
def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23561846/ "DO", https://pubmed.ncbi.nlm.nih.gov/23561847/ "DO", https://pubmed.ncbi.nlm.nih.gov/36833286/ "DO"]
synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8" EXACT []
synonym: "GPIBD8" EXACT []
synonym: "HPMRS3" EXACT []
synonym: "Hyperphosphatasia with Mental Retardation Syndrome 3" EXACT []
synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17" EXACT []
synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21" EXACT []
synonym: "MRT17" EXACT []
synonym: "MRT21" EXACT []
xref: MIM:614207
is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome
created_by: mtutaj
creation_date: 2023-06-29T21:08:45Z

[Term]
id: DOID:0070436
name: hyperphosphatasia with impaired intellectual development syndrome 4
alt_id: DOID:9007958
def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24439110/ "DO"]
synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10" EXACT []
synonym: "glycosylphosphatidylinositol biosynthesis defect 62" EXACT []
synonym: "GPIBD10" EXACT []
synonym: "GPIBD62" EXACT []
synonym: "HPMRS4" EXACT []
synonym: "Hyperphosphatasia with Mental Retardation Syndrome 4" EXACT []
xref: MIM:615716
is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
created_by: mtutaj
creation_date: 2023-06-29T21:10:01Z

[Term]
id: DOID:0070437
name: hyperphosphatasia with impaired intellectual development syndrome 6
alt_id: DOID:9001811
def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26293662/ "DO"]
synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12" EXACT []
synonym: "glycosylphosphatidylinositol biosynthesis defect 40" EXACT []
synonym: "GPIBD12" EXACT []
synonym: "GPIBD40" EXACT []
synonym: "HPMRS6" EXACT []
synonym: "Hyperphosphatasia with Mental Retardation Syndrome 6" EXACT []
xref: MIM:616809
is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome
created_by: mtutaj
creation_date: 2023-06-29T21:11:09Z

[Term]
id: DOID:0070438
name: retinal macular dystrophy
def: "A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27496188/ "DO", https://pubmed.ncbi.nlm.nih.gov/35331648/ "DO", https://pubmed.ncbi.nlm.nih.gov/36243009 "DO"]
synonym: "MCDR" EXACT []
xref: MIM:PS136550
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4448 ! macular degeneration
created_by: mtutaj
creation_date: 2023-06-29T21:12:26Z

[Term]
id: DOID:0070439
name: North Carolina macular dystrophy
alt_id: DOID:9001226
alt_id: MIM:136550
def: "A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36243009 "DO"]
synonym: "CAPED" EXACT []
synonym: "central areolar pigment epithelial dystrophy" EXACT []
synonym: "central retinal pigment epithelial dystrophy" EXACT []
synonym: "MCDR1" EXACT []
synonym: "NCMD" EXACT []
synonym: "progressive foveal dystrophy" EXACT []
synonym: "retinal macular dystrophy 1" EXACT []
synonym: "Retinal Macular Dystrophy 1, North Carolina Type" EXACT []
xref: GARD:9179
xref: MESH:C537835
xref: NCI:C168999
xref: ORDO:75327
is_a: DOID:0070438 ! retinal macular dystrophy
created_by: mtutaj
creation_date: 2023-06-29T21:15:45Z

[Term]
id: DOID:0070440
name: retinal macular dystrophy 3
alt_id: DOID:9004386
def: "A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27496188/ "DO"]
synonym: "MCDR3" EXACT []
xref: MIM:608850
is_a: DOID:0070438 ! retinal macular dystrophy
created_by: mtutaj
creation_date: 2023-06-29T21:18:01Z

[Term]
id: DOID:0070441
name: retinal macular dystrophy 4
alt_id: DOID:9005553
def: "A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35331648/ "DO"]
synonym: "MCDR4" EXACT []
xref: MIM:619977
is_a: DOID:0070438 ! retinal macular dystrophy
created_by: mtutaj
creation_date: 2023-06-29T21:20:32Z

[Term]
id: DOID:0070442
name: paroxysmal nonkinesigenic dyskinesia 3
alt_id: DOID:9002672
alt_id: MIM:609446
def: "A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15937479/ "DO", https://pubmed.ncbi.nlm.nih.gov/26195193/ "DO"]
synonym: "Epilepsy, Generalized, with Paroxysmal Dyskinesia" EXACT []
synonym: "Generalized Epilepsy and Paroxysmal Dyskinesia" EXACT []
synonym: "GEPD" EXACT []
synonym: "PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY" EXACT []
synonym: "PNKD3" EXACT []
xref: MESH:C563719
xref: ORDO:79137
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12859 ! choreatic disease
is_a: DOID:543 ! dystonia
is_a: DOID:9001793 ! Generalized Epilepsy
created_by: mtutaj
creation_date: 2023-06-29T21:22:47Z

[Term]
id: DOID:0070443
name: neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
alt_id: DOID:9000830
def: "An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33963192/ "DO", https://pubmed.ncbi.nlm.nih.gov/34569062/ "DO"]
synonym: "GEMIN5-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
synonym: "NEDCAM" EXACT []
xref: MIM:619333
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:9277 ! primary cerebellar degeneration
created_by: mtutaj
creation_date: 2023-06-29T21:25:43Z

[Term]
id: DOID:0070444
name: neurodevelopmental disorder with language delay and seizures
alt_id: DOID:9003411
def: "An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35240055/ "DO"]
synonym: "NEDLDS" EXACT []
xref: MIM:619908
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:1826 ! epilepsy
is_a: DOID:9005466 ! Language Development Disorders
created_by: mtutaj
creation_date: 2023-06-29T21:29:05Z

[Term]
id: DOID:0070445
name: early-onset dystonia and/or spastic paraplegia
alt_id: DOID:9000491
def: "A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34636445/ "DO"]
synonym: "ATP5G3-ASSOCIATED DISORDER" EXACT []
synonym: "DYTSPG" EXACT []
xref: MIM:619681
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:543 ! dystonia
created_by: mtutaj
creation_date: 2023-06-29T21:31:43Z

[Term]
id: DOID:0070446
name: mitochondrial DNA depletion syndrome 16
alt_id: DOID:9008345
def: "A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27592148/ "DO", https://pubmed.ncbi.nlm.nih.gov/30157269/ "DO"]
synonym: "mitochondrial DNA depletion syndrome 16 (hepatic type)" EXACT []
synonym: "MTDPS16" EXACT []
xref: MIM:618528
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
created_by: mtutaj
creation_date: 2023-06-29T21:34:46Z

[Term]
id: DOID:0070447
name: mitochondrial DNA depletion syndrome 16B
alt_id: DOID:9002169
def: "A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31778857/ "DO"]
synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE)" EXACT []
synonym: "MTDPS16B" EXACT []
xref: MIM:619425
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:12859 ! choreatic disease
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9002121 ! Spinocerebellar Ataxias
created_by: mtutaj
creation_date: 2023-06-29T21:36:36Z

[Term]
id: DOID:0070448
name: mitochondrial DNA depletion syndrome 17
alt_id: DOID:9005661
def: "A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28973171/ "DO"]
synonym: "MTDPS17" EXACT []
xref: MIM:618567
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
created_by: mtutaj
creation_date: 2023-06-29T21:38:16Z

[Term]
id: DOID:0070449
name: mitochondrial DNA depletion syndrome 18
alt_id: DOID:9006116
def: "A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29517768/ "DO"]
synonym: "MTDPS18" EXACT []
xref: MIM:618811
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
created_by: mtutaj
creation_date: 2023-06-29T21:39:36Z

[Term]
id: DOID:0070450
name: mitochondrial DNA depletion syndrome 19
alt_id: DOID:9006004
def: "A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29211846/ "DO"]
synonym: "MTDPS19" EXACT []
xref: MIM:618972
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
created_by: mtutaj
creation_date: 2023-06-29T21:40:52Z

[Term]
id: DOID:0070451
name: mitochondrial DNA depletion syndrome 20
alt_id: DOID:9001068
def: "A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33855352/ "DO"]
synonym: "mitochondrial DNA depletion syndrome 20 (MNGIE type)" EXACT []
synonym: "mitochondrial neurogastrointestinal encephalomyopathy syndrome, LIG3-related" EXACT []
synonym: "MTDPS20" EXACT []
xref: MIM:619780
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type
created_by: mtutaj
creation_date: 2023-06-29T21:42:02Z

[Term]
id: DOID:0070452
name: xanthinuria type I
alt_id: DOID:9008241
alt_id: MIM:278300
def: "A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9153281/ "DO"]
synonym: "XAN1" EXACT []
xref: GARD:5621
xref: MESH:C562584
xref: ORDO:93601
is_a: DOID:0060236 ! xanthinuria
created_by: mtutaj
creation_date: 2023-07-21T09:24:27Z

[Term]
id: DOID:0070453
name: xanthinuria type II
alt_id: DOID:9004466
alt_id: MIM:603592
def: "A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11302742/ "DO", https://pubmed.ncbi.nlm.nih.gov/23203137/ "DO"]
synonym: "combined deficiency of xanthine dehydrogenase and aldehyde oxidase" EXACT []
synonym: "XAN2" EXACT []
synonym: "xanthinuria type 2" EXACT []
xref: GARD:5620
xref: MESH:C566358
xref: ORDO:93602
is_a: DOID:0060236 ! xanthinuria
created_by: mtutaj
creation_date: 2023-07-21T09:24:46Z

[Term]
id: DOID:0070454
name: hereditary spastic paraplegia 70
alt_id: DOID:9000026
def: "A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34585293/ "DO"]
synonym: "autosomal recessive spastic paraplegia 70" EXACT []
synonym: "SPG70" EXACT []
xref: MIM:620323
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2023-07-21T09:27:30Z

[Term]
id: DOID:0070455
name: hereditary spastic paraplegia 79A
def: "A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35986737/ "DO"]
synonym: "autosomal dominant spastic paraplegia 79A" EXACT []
synonym: "autosomal dominant spastic paraplegia 79A, with ataxia" EXACT []
synonym: "SPG79A" EXACT []
xref: MIM:620221
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2023-07-21T09:30:23Z

[Term]
id: DOID:0070456
name: hereditary spastic paraplegia 87
alt_id: DOID:9003756
def: "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35718349/ "DO"]
synonym: "autosomal recessive spastic paraplegia 87" EXACT []
synonym: "SPG87" EXACT []
xref: MIM:619966
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2023-07-21T09:35:34Z

[Term]
id: DOID:0070457
name: hereditary spastic paraplegia 88
alt_id: DOID:9008849
def: "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34564892/ "DO", https://pubmed.ncbi.nlm.nih.gov/34825409/ "DO", https://pubmed.ncbi.nlm.nih.gov/34981581/ "DO"]
synonym: "autosomal dominant spastic paraplegia 88" EXACT []
synonym: "SPG88" EXACT []
xref: MIM:620106
xref: MONDO:0859309
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2023-07-21T09:37:18Z

[Term]
id: DOID:0070458
name: hereditary spastic paraplegia 89
alt_id: DOID:9002632
def: "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37119330/ "DO"]
synonym: "autosomal recessive spastic paraplegia 89" EXACT []
synonym: "SPG89" EXACT []
xref: MIM:620379
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2023-07-21T09:38:37Z

[Term]
id: DOID:0070459
name: hereditary spastic paraplegia 90A
def: "A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36718090/ "DO"]
synonym: "autosomal dominant spastic paraplegia 90A" EXACT []
synonym: "SPG90A" EXACT []
synonym: "SPTSSA-RELATED CONDITION" BROAD []
xref: MIM:620416
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2023-07-21T09:39:58Z

[Term]
id: DOID:0070460
name: hereditary spastic paraplegia 90B
def: "A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36718090/ "DO"]
synonym: "spastic paraplegia 90B, autosomal recessive" EXACT []
synonym: "SPG90B" EXACT []
synonym: "SPTSSA-RELATED CONDITION" BROAD []
xref: MIM:620417
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2023-07-21T09:42:08Z

[Term]
id: DOID:0070461
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
def: "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34483339/ "DO", https://pubmed.ncbi.nlm.nih.gov/34954817/ "DO"]
synonym: "MC5DN4A" EXACT []
xref: MIM:620358
xref: MONDO:0957254
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060333 ! mitochondrial complex V (ATP synthase) deficiency nuclear type 4
created_by: mtutaj
creation_date: 2023-07-21T09:43:13Z

[Term]
id: DOID:0070462
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
def: "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23599390/ "DO"]
synonym: "MC5DN4B" EXACT []
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type" EXACT []
xref: MIM:615228
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060333 ! mitochondrial complex V (ATP synthase) deficiency nuclear type 4
created_by: mtutaj
creation_date: 2023-07-21T09:44:25Z

[Term]
id: DOID:0070463
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 5
alt_id: DOID:9005595
def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29478781/ "DO"]
synonym: "MC5DN5" EXACT []
synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE" EXACT []
xref: MIM:618120
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency
created_by: mtutaj
creation_date: 2023-07-21T09:48:06Z

[Term]
id: DOID:0070464
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 7
alt_id: DOID:9002101
def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34954817/ "DO", https://pubmed.ncbi.nlm.nih.gov/35621276/ "DO"]
synonym: "MC5DN7" EXACT []
xref: MIM:620359
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency
created_by: mtutaj
creation_date: 2023-07-21T09:49:46Z

[Term]
id: DOID:0070465
name: spinocerebellar ataxia with axonal neuropathy type 3
alt_id: DOID:9008083
def: "An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29718187/ "DO"]
synonym: "Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3" EXACT []
synonym: "SCAN3" EXACT []
synonym: "spinocerebellar ataxia with axonal neuropathy 3" EXACT []
xref: EFO:0010249
xref: MIM:618387
is_a: DOID:9000588 ! Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy
created_by: mtutaj
creation_date: 2023-07-21T09:51:08Z

[Term]
id: DOID:0070466
name: carpal tunnel syndrome 1
alt_id: DOID:9007824
def: "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8309582/ "DO"]
synonym: "CTS1" EXACT []
xref: MIM:115430
xref: MONDO:0020730
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12169 ! carpal tunnel syndrome
created_by: mtutaj
creation_date: 2023-07-21T09:52:01Z

[Term]
id: DOID:0070467
name: carpal tunnel syndrome 2
alt_id: DOID:9003916
def: "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32686688/ "DO"]
synonym: "CTS2" EXACT []
xref: MIM:619161
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12169 ! carpal tunnel syndrome
created_by: mtutaj
creation_date: 2023-07-21T09:53:19Z

[Term]
id: DOID:0070468
name: Yoon-Bellen neurodevelopmental syndrome
alt_id: DOID:9004385
def: "A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28017472/ "DO", https://pubmed.ncbi.nlm.nih.gov/34800363/ "DO"]
synonym: "YOBELN" EXACT []
xref: MIM:619701
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9008582 ! Developmental Disease
created_by: mtutaj
creation_date: 2023-09-29T10:07:08Z

[Term]
id: DOID:0070469
name: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
alt_id: DOID:9000340
def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31924697/ "DO", https://pubmed.ncbi.nlm.nih.gov/36255738/ "DO"]
synonym: "NEDDFAC" EXACT []
xref: MIM:619480
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:9001487 ! Facies
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
created_by: mtutaj
creation_date: 2023-09-29T10:09:25Z

[Term]
id: DOID:0070470
name: chromosome 1p36.33 duplication syndrome
alt_id: DOID:9002611
def: "A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32004445/ "DO", https://pubmed.ncbi.nlm.nih.gov/33575671/ "DO"]
synonym: "Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster" EXACT []
synonym: "Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster, autosomal dominant" EXACT []
xref: MIM:618815
xref: ORDO:656279
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060429 ! chromosomal duplication syndrome
created_by: mtutaj
creation_date: 2023-11-30T14:11:12Z

[Term]
id: DOID:0070471
name: early-onset epilepsy 2
alt_id: DOID:9001558
def: "An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31197650/ "DO"]
synonym: "EPEDD" EXACT []
synonym: "EPEO2" EXACT []
synonym: "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY" EXACT []
synonym: "SETD1A-RELATED CONDITION" BROAD []
xref: EFO:0010739
xref: MIM:618832
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1826 ! epilepsy
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2023-09-29T10:12:06Z

[Term]
id: DOID:0070472
name: early-onset epilepsy 3
alt_id: DOID:9006144
def: "An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36074901/ "DO", https://pubmed.ncbi.nlm.nih.gov/37161035/ "DO"]
synonym: "early-onset epilepsy-3 with or without developmental delay" EXACT []
synonym: "EPEO3" EXACT []
xref: MIM:620465
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1826 ! epilepsy
created_by: mtutaj
creation_date: 2023-09-29T10:15:39Z

[Term]
id: DOID:0070473
name: Zaki syndrome
alt_id: DOID:9001208
def: "A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34587386/ "DO", https://pubmed.ncbi.nlm.nih.gov/37005218/ "DO"]
synonym: "MICROCEPHALY, PROGRESSIVE, WITH DEVELOPMENTAL DELAY, CUPPED EARS, AND DYSMORPHIC FEATURES" EXACT []
synonym: "WLS SYNDROME" EXACT []
synonym: "ZKS" EXACT []
xref: MIM:619648
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9005835 ! Congenital Abnormalities
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2023-11-30T14:13:47Z

[Term]
id: DOID:0070474
name: childhood-onset neurodegeneration with brain atrophy
alt_id: DOID:9008006
def: "A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28777933/ "DO"]
synonym: "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" EXACT []
synonym: "CONDBA" EXACT []
synonym: "INFANTILE OR CHILDHOOD ONSET NEURODEGENERATIVE DISEASE, GLOBAL DEVELOPMENTAL DELAY, AND INTELLECTUAL DISABILITY" EXACT []
synonym: "UBTF E210K NEUROREGRESSION SYNDROME" EXACT []
synonym: "UBTF-RELATED CONDITION" EXACT []
synonym: "UBTF-RELATED DISORDER" EXACT []
xref: GARD:13658
xref: MIM:617672
xref: ORDO:500180
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:9004462 ! Atrophy
created_by: mtutaj
creation_date: 2023-11-30T14:16:01Z

[Term]
id: DOID:0070475
name: SMARCB1-deficient renal medullary carcinoma
alt_id: DOID:9005067
def: "A renal cell carcinoma that develops in the renal medulla. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28697319/ "DO", https://pubmed.ncbi.nlm.nih.gov/35853783/ "DO", https://pubmed.ncbi.nlm.nih.gov/36645398/ "DO"]
synonym: "kidney medullary carcinoma" EXACT []
synonym: "medullary adenocarcinoma" EXACT []
synonym: "medullary carcinoma of the kidney" EXACT []
synonym: "medullary renal cell carcinoma" EXACT []
synonym: "renal medullary carcinoma" EXACT []
synonym: "RMC" EXACT []
xref: EFO:1000314
xref: GARD:13175
xref: NCI:C7572
xref: ORDO:319319
is_a: DOID:4450 ! renal cell carcinoma
created_by: mtutaj
creation_date: 2023-10-23T09:50:28Z

[Term]
id: DOID:0070476
name: diphthamide deficiency syndrome
def: "An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2). (DO)" [https://pubmed.ncbi.nlm.nih.gov/32576952/ "DO", https://pubmed.ncbi.nlm.nih.gov/35482014/ "DO"]
synonym: "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" EXACT []
synonym: "DEDSSH" EXACT []
synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair" EXACT []
xref: MIM:PS616901
xref: ORDO:459061
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2023-10-23T09:55:11Z

[Term]
id: DOID:0070477
name: diphthamide deficiency syndrome 1
alt_id: DOID:9005766
def: "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30877278/ "DO"]
synonym: "DEDSSH1" EXACT []
synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair 1" EXACT []
synonym: "developmental delay with short stature, dysmorphic features, and sparse hair" EXACT []
synonym: "DPH1 syndrome" EXACT []
synonym: "Loucks-Innes syndrome" EXACT []
xref: MIM:616901
is_a: DOID:0070476 ! diphthamide deficiency syndrome
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2023-10-23T09:59:17Z

[Term]
id: DOID:0070478
name: diphthamide deficiency syndrome 2
alt_id: DOID:9007201
def: "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32576952/ "DO"]
synonym: "DEDSSH2" EXACT []
synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair 2" EXACT []
xref: MIM:620062
is_a: DOID:0070476 ! diphthamide deficiency syndrome
is_a: DOID:9001487 ! Facies
created_by: mtutaj
creation_date: 2023-10-23T09:59:35Z

[Term]
id: DOID:0070479
name: neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties
alt_id: DOID:9008919
def: "An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35482014/ "DO"]
synonym: "DPH5-RELATED DIPHTHAMIDE-DEFICIENCY SYNDROME" EXACT []
synonym: "NEDSFF" EXACT []
xref: MIM:620070
xref: MONDO:0859295
is_a: DOID:0070476 ! diphthamide deficiency syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2023-10-23T10:16:43Z

[Term]
id: DOID:0070480
name: schwannomatosis 1
def: "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19582488/ "DO", https://pubmed.ncbi.nlm.nih.gov/35674741/ "DO"]
synonym: "SCHWANNOMATOSIS 1, SOMATIC" NARROW []
synonym: "SMARCB1-related schwannomatosis" EXACT []
synonym: "SWN1" EXACT []
synonym: "SWNTS1" EXACT []
xref: MIM:162091
xref: NCI:C186703
is_a: DOID:3204 ! schwannomatosis
created_by: mtutaj
creation_date: 2023-10-23T10:21:53Z

[Term]
id: DOID:0070481
name: schwannomatosis 2
def: "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24362817/ "DO", https://pubmed.ncbi.nlm.nih.gov/35674741/ "DO"]
synonym: "LZTR1-RELATED DISORDER" BROAD []
synonym: "LZTR1-related schwannomatosis" EXACT []
synonym: "Schwannomatosis-2, susceptibility to" RELATED []
synonym: "SWN2" EXACT []
xref: MIM:615670
xref: NCI:C186704
is_a: DOID:3204 ! schwannomatosis
created_by: mtutaj
creation_date: 2023-10-23T10:22:08Z

[Term]
id: DOID:0070482
name: spinal neurofibromatosis
alt_id: DOID:9005235
alt_id: MIM:162210
def: "A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25211147/ "DO", https://pubmed.ncbi.nlm.nih.gov/34012067/ "DO"]
synonym: "familial spinal neurofibromatosis" EXACT []
synonym: "FNSF" EXACT []
synonym: "FSNF" EXACT []
synonym: "SNF" EXACT []
synonym: "SPINAL NEUROFIBROMAS" EXACT []
xref: MESH:C563523
is_a: DOID:0111253 ! neurofibromatosis 1
created_by: mtutaj
creation_date: 2023-10-23T10:28:35Z

[Term]
id: DOID:0070483
name: Watson syndrome
alt_id: DOID:9002380
def: "A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1770531/ "DO", https://pubmed.ncbi.nlm.nih.gov/6025371/ "DO"]
synonym: "cafe-au-lait macules with pulmonary stenosis" EXACT []
synonym: "cafe-au-lait spots with pulmonic stenosis" EXACT []
synonym: "WTSN" EXACT []
xref: MIM:193520
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080690 ! RASopathy
is_a: DOID:6420 ! pulmonary valve stenosis
is_a: DOID:9002453 ! Cafe-au-Lait Spots
is_a: DOID:9007661 ! Dwarfism
created_by: mtutaj
creation_date: 2023-10-23T10:32:19Z

[Term]
id: DOID:0070484
name: Legius syndrome
alt_id: DOID:9007799
alt_id: MIM:611431
def: "A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34012067/ "DO"]
synonym: "LGSS" EXACT []
synonym: "neurofibromatosis type 1-like syndrome" EXACT []
synonym: "NF1-like syndrome" EXACT []
synonym: "NFLS" EXACT []
xref: GARD:10714
xref: MESH:C548032
xref: NCI:C176941
xref: ORDO:137605
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080690 ! RASopathy
is_a: DOID:9002453 ! Cafe-au-Lait Spots
created_by: mtutaj
creation_date: 2023-10-23T10:39:25Z

[Term]
id: DOID:0070485
name: mitochondrial complex IV deficiency nuclear type 23
alt_id: DOID:9004597
def: "A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36030551/ "DO"]
synonym: "MC4DN23" EXACT []
xref: MIM:620275
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease
created_by: mtutaj
creation_date: 2023-11-30T14:18:44Z

[Term]
id: DOID:0070486
name: Parkinson's disease 25
alt_id: DOID:9008253
def: "An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36073231/ "DO", https://pubmed.ncbi.nlm.nih.gov/37046398/ "DO"]
synonym: "autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development" EXACT []
synonym: "PARK25" EXACT []
xref: MIM:620482
xref: MONDO:0957576
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060894 ! early-onset Parkinson's disease
is_a: DOID:1059 ! intellectual disability
created_by: mtutaj
creation_date: 2023-11-30T14:20:59Z

[Term]
id: DOID:0070487
name: dopamine transporter deficiency syndrome
alt_id: DOID:9005014
def: "A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37443770/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK442323/ "DO"]
synonym: "DTDS" EXACT []
synonym: "Parkinsonism-Dystonia, Infantile" EXACT []
synonym: "PKDYS" EXACT []
xref: MESH:C567730
xref: MIM:PS613135
xref: NCI:C129866
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:14330 ! Parkinson's disease
is_a: DOID:543 ! dystonia
created_by: mtutaj
creation_date: 2023-11-30T14:23:37Z

[Term]
id: DOID:0070488
name: atypical dopamine transporter deficiency syndrome
def: "A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37443770/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK442323/ "DO"]
synonym: "atypical DTDS" EXACT []
is_a: DOID:0070487 ! dopamine transporter deficiency syndrome
created_by: mtutaj
creation_date: 2023-11-30T14:28:07Z

[Term]
id: DOID:0070489
name: classic dopamine transporter deficiency syndrome
alt_id: DOID:9005659
def: "A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37443770/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK442323/ "DO"]
synonym: "classic DTDS" EXACT []
synonym: "infantile parkinsonism-dystonia 1" EXACT []
synonym: "PKDYS1" EXACT []
xref: GARD:10484
xref: MIM:613135
xref: MONDO:0054835
xref: ORDO:238455
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070487 ! dopamine transporter deficiency syndrome
created_by: mtutaj
creation_date: 2023-11-30T14:30:00Z

[Term]
id: DOID:0070490
name: infantile parkinsonism-dystonia 2
alt_id: DOID:9009198
def: "A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23363473/ "DO"]
synonym: "ABNORMAL DENSE GRANULES" RELATED []
synonym: "brain dopamine-serotonin vesicular transport disease" EXACT []
synonym: "brain monoamine vesicular transport disease" EXACT []
synonym: "PKDYS2" EXACT []
xref: GARD:13594
xref: MIM:618049
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070487 ! dopamine transporter deficiency syndrome
created_by: mtutaj
creation_date: 2023-11-30T14:33:20Z

[Term]
id: DOID:0070491
name: mitochondrial complex IV deficiency nuclear type 1
alt_id: DOID:9007344
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10746561/ "DO"]
synonym: "MC4DN1" EXACT []
xref: MIM:220110
xref: NCI:C176895
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T14:35:34Z

[Term]
id: DOID:0070492
name: mitochondrial complex IV deficiency nuclear type 3
alt_id: DOID:9005748
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10767350/ "DO", https://pubmed.ncbi.nlm.nih.gov/12928484/ "DO"]
synonym: "MC4DN3" EXACT []
xref: MIM:619046
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T14:37:53Z

[Term]
id: DOID:0070493
name: mitochondrial complex IV deficiency nuclear type 4
alt_id: DOID:9000822
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11013136/ "DO", https://pubmed.ncbi.nlm.nih.gov/19295170/ "DO"]
synonym: "MC4DN4" EXACT []
xref: MIM:619048
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T14:41:45Z

[Term]
id: DOID:0070494
name: mitochondrial complex IV deficiency nuclear type 7
alt_id: DOID:9003553
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18499082/ "DO", https://pubmed.ncbi.nlm.nih.gov/24781756/ "DO"]
synonym: "MC4DN7" EXACT []
xref: MIM:619051
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T14:43:38Z

[Term]
id: DOID:0070495
name: mitochondrial complex IV deficiency nuclear type 8
alt_id: DOID:9007489
def: "A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20727754/ "DO"]
synonym: "MC4DN8" EXACT []
xref: MIM:619052
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T14:47:56Z

[Term]
id: DOID:0070496
name: mitochondrial complex IV deficiency nuclear type 10
alt_id: DOID:9006390
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22243966/ "DO"]
synonym: "MC4DN10" EXACT []
xref: MIM:619053
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T14:49:52Z

[Term]
id: DOID:0070497
name: mitochondrial complex IV deficiency nuclear type 11
alt_id: DOID:9000374
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24202787/ "DO", https://pubmed.ncbi.nlm.nih.gov/33751098/ "DO"]
synonym: "MC4DN11" EXACT []
xref: MIM:619054
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T14:51:30Z

[Term]
id: DOID:0070498
name: mitochondrial complex IV deficiency nuclear type 12
alt_id: DOID:9006173
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24462369/ "DO"]
synonym: "MC4DN12" EXACT []
xref: MIM:619055
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T14:52:57Z

[Term]
id: DOID:0070499
name: mitochondrial complex IV deficiency nuclear type 14
alt_id: DOID:9008434
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25604084/ "DO"]
synonym: "MC4DN14" EXACT []
xref: MIM:619058
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T14:54:48Z

[Term]
id: DOID:0070500
name: mitochondrial complex IV deficiency nuclear type 15
alt_id: DOID:9001092
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26685157/ "DO"]
synonym: "MC4DN15" EXACT []
synonym: "MCDN15" EXACT []
xref: MIM:619059
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T14:56:07Z

[Term]
id: DOID:0070501
name: mitochondrial complex IV deficiency nuclear type 16
alt_id: DOID:9001257
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31290619/ "DO"]
synonym: "MC4DN16" EXACT []
xref: MIM:619060
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T14:57:32Z

[Term]
id: DOID:0070502
name: mitochondrial complex IV deficiency nuclear type 17
alt_id: DOID:9001849
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25175347/ "DO"]
synonym: "MC4DN17" EXACT []
xref: MIM:619061
xref: MONDO:0033652
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T14:58:54Z

[Term]
id: DOID:0070503
name: mitochondrial complex IV deficiency nuclear type 18
alt_id: DOID:9005386
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31155743/ "DO"]
synonym: "MC4DN18" EXACT []
xref: MIM:619062
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T15:04:43Z

[Term]
id: DOID:0070504
name: mitochondrial complex IV deficiency nuclear type 19
alt_id: DOID:9006233
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28386624/ "DO"]
synonym: "MC4DN19" EXACT []
xref: MIM:619063
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T15:06:32Z

[Term]
id: DOID:0070505
name: mitochondrial complex IV deficiency nuclear type 20
alt_id: DOID:9004621
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28247525/ "DO"]
synonym: "MC4DN20" EXACT []
xref: MIM:619064
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T15:08:11Z

[Term]
id: DOID:0070506
name: mitochondrial complex IV deficiency nuclear type 21
alt_id: DOID:9004227
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23746447/ "DO"]
synonym: "MC4DN21" EXACT []
xref: MIM:619065
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T15:12:03Z

[Term]
id: DOID:0070507
name: mitochondrial complex IV deficiency nuclear type 22
alt_id: DOID:9008899
def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33169484/ "DO"]
synonym: "MC4DN22" EXACT []
xref: MIM:619355
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-11-30T15:15:11Z

[Term]
id: DOID:0070508
name: metabolic dysfunction and alcohol associated liver disease
def: "A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37364816/ "DO"]
synonym: "metabolic dysfunction and alcohol related liver disease" EXACT []
synonym: "MetALD" EXACT []
is_a: DOID:9452 ! steatotic liver disease
created_by: mtutaj
creation_date: 2023-11-30T15:18:29Z

[Term]
id: DOID:0070509
name: Schinzel Giedion syndrome
alt_id: DOID:9001389
alt_id: MIM:269150
def: "An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. (DO)" [https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/20436468/ "DO"]
synonym: "Schinzel Giedion midface-retraction syndrome" EXACT []
synonym: "Schinzel-Giedion Syndrome" EXACT []
synonym: "SETBP1-RELATED CONDITION" BROAD []
synonym: "SETBP1-related disorder" BROAD []
synonym: "SGS" EXACT []
xref: GARD:117
xref: MESH:C536632
xref: NCI:C129308
xref: ORDO:798
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2023-12-20T20:37:16Z

[Term]
id: DOID:0070510
name: inflammatory poikiloderma with hair abnormalities and acral keratoses
alt_id: DOID:9001883
def: "A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34999892/ "DO"]
synonym: "IPHAK" EXACT []
synonym: "LIPHAK" EXACT []
synonym: "LIPHAK syndrome" EXACT []
xref: MIM:620199
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:421 ! hair disease
is_a: DOID:9001946 ! Skin Abnormalities
created_by: mtutaj
creation_date: 2023-12-20T20:41:28Z

[Term]
id: DOID:0070511
name: polyhydramnios, megalencephaly, and symptomatic epilepsy
alt_id: DOID:9006920
alt_id: MIM:611087
def: "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17522105/ "DO", https://pubmed.ncbi.nlm.nih.gov/33605605/ "DO"]
synonym: "PMSE" EXACT []
synonym: "PMSE SYNDROME" EXACT []
synonym: "Pretzel syndrome" EXACT []
xref: GARD:12913
xref: MESH:C567020
xref: ORDO:500533
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:8488 ! polyhydramnios
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9008514 ! Psychomotor Disorders
created_by: mtutaj
creation_date: 2023-12-20T20:43:43Z

[Term]
id: DOID:0070512
name: neurodevelopmental disorder with hypotonia and speech delay
alt_id: DOID:9001612
def: "A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36528028/ "DO"]
synonym: "INTELLECTUAL DISABILITY WITH MUSCULAR SPASMS" NARROW []
synonym: "NEDHSS" EXACT []
synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES" EXACT []
xref: MIM:620455
xref: MONDO:0957541
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2023-12-20T20:46:43Z

[Term]
id: DOID:0070513
name: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37071997/ "DO"]
synonym: "NEDFBA" EXACT []
xref: MIM:620489
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2023-12-20T20:49:28Z

[Term]
id: DOID:0070514
name: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
alt_id: DOID:9009097
def: "An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28942966/ "DO", https://pubmed.ncbi.nlm.nih.gov/33522091/ "DO"]
synonym: "NEDDFL" EXACT []
xref: MIM:617755
xref: MONDO:0060596
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2023-12-20T20:53:30Z

[Term]
id: DOID:0070515
name: chromosome 16p11.2 deletion syndrome, 593-kb
alt_id: DOID:9006640
alt_id: MIM:611913
def: "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). (DO)" [https://pubmed.ncbi.nlm.nih.gov/19914906/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK11167/ "DO"]
synonym: "16p11.2 deletion syndrome" EXACT []
synonym: "autism, susceptibility to, 14A" RELATED []
synonym: "AUTS14A" RELATED []
synonym: "Proximal 16p11.2 microdeletion syndrome" EXACT []
xref: GARD:10740
xref: MESH:C579850
xref: ORDO:261197
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12849 ! autistic disorder
created_by: mtutaj
creation_date: 2023-12-20T20:56:18Z

[Term]
id: DOID:0070516
name: Mitchell syndrome
alt_id: DOID:9002088
def: "A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32169171/ "DO", https://pubmed.ncbi.nlm.nih.gov/37400800/ "DO"]
synonym: "ACOX1-RELATED CONDITION" BROAD []
synonym: "ACOX1-RELATED DISORDER" BROAD []
synonym: "MITCH" EXACT []
xref: MIM:618960
xref: ORDO:631248
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5214 ! demyelinating polyneuropathy
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:906 ! peroxisomal disease
created_by: mtutaj
creation_date: 2023-12-20T20:59:58Z

[Term]
id: DOID:0070517
name: retinal macular dystrophy 2
alt_id: DOID:9002240
alt_id: MIM:608051
def: "A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12657606/ "DO", https://pubmed.ncbi.nlm.nih.gov/20393116/ "DO"]
synonym: "MCDR2" EXACT []
synonym: "retinal macular dystrophy type 2" EXACT []
xref: MESH:C562746
xref: ORDO:319640
is_a: DOID:0070438 ! retinal macular dystrophy
created_by: mtutaj
creation_date: 2024-01-31T10:41:35Z

[Term]
id: DOID:0070518
name: familial multiple lipomatosis
alt_id: DOID:9000797
alt_id: MIM:151900
def: "A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12516905/ "DO", https://pubmed.ncbi.nlm.nih.gov/32021365/ "DO"]
synonym: "Adiposis Dolorosa Type III" EXACT []
synonym: "Dercum's Disease Type III" EXACT []
synonym: "Familial Multiple Lipoma" EXACT []
synonym: "Familial Multiple Lipomas" EXACT []
synonym: "Familial Multiple Lipomatoses" EXACT []
synonym: "FML" EXACT []
synonym: "LIPO" EXACT []
synonym: "Lipoma Dolorosa" EXACT []
synonym: "multiple lipomatosis" EXACT []
xref: GARD:12925
xref: MESH:D000071070
xref: ORDO:199276
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3153 ! lipomatosis
is_a: DOID:3315 ! lipoma
created_by: mtutaj
creation_date: 2024-01-31T10:45:19Z

[Term]
id: DOID:0070519
name: early-onset vitamin B6-dependent epilepsy 4
def: "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29053735/ "DO", https://pubmed.ncbi.nlm.nih.gov/30043187/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1486/ "DO"]
synonym: "AASA dehydrogenase deficiency" EXACT []
synonym: "antiquitin deficiency" EXACT []
synonym: "EPEO4" EXACT []
synonym: "PDE-ALDH7A1" EXACT []
xref: MIM:266100
is_a: DOID:0080768 ! pyridoxine-dependent epilepsy
created_by: mtutaj
creation_date: 2024-01-31T10:48:06Z

[Term]
id: DOID:0070520
name: peeling skin syndrome 1
alt_id: DOID:9002384
def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20691404/ "DO", https://pubmed.ncbi.nlm.nih.gov/28584761 "DO"]
synonym: "generalized inflammatory peeling skin syndrome" EXACT []
synonym: "inflammatory peeling skin syndrome" EXACT []
synonym: "peeling skin syndrome type B" EXACT []
synonym: "PSS1" EXACT []
xref: MIM:270300
xref: ORDO:263553
is_a: DOID:0060283 ! peeling skin syndrome
created_by: mtutaj
creation_date: 2024-01-31T10:52:51Z

[Term]
id: DOID:0070521
name: peeling skin syndrome 2
alt_id: DOID:9002697
alt_id: MIM:609796
def: "A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. (DO)" [https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/ "DO", https://pubmed.ncbi.nlm.nih.gov/16380904/ "DO", https://pubmed.ncbi.nlm.nih.gov/22036214/ "DO"]
synonym: "Acral peeling skin syndrome" EXACT []
synonym: "APSS" EXACT []
synonym: "localized peeling skin syndrome" BROAD []
synonym: "peeling skin syndrome, acral type" EXACT []
synonym: "PSS2" EXACT []
xref: GARD:12863
xref: MESH:C536316
xref: ORDO:263534
is_a: DOID:0060283 ! peeling skin syndrome
created_by: mtutaj
creation_date: 2024-01-31T10:54:49Z

[Term]
id: DOID:0070522
name: peeling skin syndrome 3
alt_id: DOID:9008071
def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CHST8 gene on chromosome 19q13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22289416/ "DO"]
synonym: "peeling skin syndrome type A" BROAD []
synonym: "PSS3" EXACT []
xref: MIM:616265
is_a: DOID:0060283 ! peeling skin syndrome
created_by: mtutaj
creation_date: 2024-01-31T10:56:03Z

[Term]
id: DOID:0070523
name: peeling skin syndrome 4
alt_id: DOID:9007796
def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21944047/ "DO", https://pubmed.ncbi.nlm.nih.gov/23534700/ "DO"]
synonym: "AREI" BROAD []
synonym: "autosomal recessive exfoliative ichthyosis" BROAD []
synonym: "exfoliative ichthyosis" BROAD []
synonym: "exfoliative ichthyosis, autosomal recessive, IBS-like" EXACT []
synonym: "exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like" EXACT []
synonym: "ichthyosis bullosa of Siemens-like" EXACT []
synonym: "PSS4" EXACT []
xref: MESH:C564309
xref: MIM:607936
xref: MONDO:0011937
is_a: DOID:0060283 ! peeling skin syndrome
created_by: mtutaj
creation_date: 2024-01-31T10:57:42Z

[Term]
id: DOID:0070524
name: peeling skin syndrome 5
alt_id: DOID:9005907
def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27476651/ "DO"]
synonym: "PSS5" EXACT []
xref: MIM:617115
is_a: DOID:0060283 ! peeling skin syndrome
created_by: mtutaj
creation_date: 2024-01-31T11:00:34Z

[Term]
id: DOID:0070525
name: peeling skin syndrome 6
alt_id: DOID:9009226
def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29505760/ "DO", https://pubmed.ncbi.nlm.nih.gov/29758285/ "DO"]
synonym: "peeling skin syndrome type A" BROAD []
synonym: "PSS6" EXACT []
xref: MIM:618084
is_a: DOID:0060283 ! peeling skin syndrome
created_by: mtutaj
creation_date: 2024-01-31T11:01:55Z

[Term]
id: DOID:0070526
name: PLACK syndrome
alt_id: DOID:9005287
def: "An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25683118/ "DO"]
synonym: "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" EXACT []
synonym: "PLACK" EXACT []
xref: MIM:616295
xref: ORDO:444138
is_a: DOID:0060283 ! peeling skin syndrome
is_a: DOID:161 ! keratosis
is_a: DOID:1762 ! cheilitis
is_a: DOID:9008749 ! Leukonychia Totalis
created_by: mtutaj
creation_date: 2024-01-31T11:04:08Z

[Term]
id: DOID:0070527
name: Borrelia miyamotoi disease
def: "A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36113496/ "DO", https://pubmed.ncbi.nlm.nih.gov/36839539 "DO"]
synonym: "BMD" EXACT []
synonym: "hard tick-borne relapsing fever" EXACT []
is_a: DOID:13034 ! relapsing fever
is_a: DOID:9004477 ! Borrelia Infections
created_by: mtutaj
creation_date: 2024-01-31T11:09:34Z

[Term]
id: DOID:0070528
name: cepacia syndrome
def: "An opportunistic bacterial infectious disease characterized by necrotizing pneumonia, acute respiratory distress syndrome, and bacteremia that has_material_basis_in Burkholderia cepacia complex, which is transmitted_by contact transmission, droplet spread transmission, vehicle-borne fomite transmission, and vehicle-borne ingestion transmission. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15463897/ "DO", https://pubmed.ncbi.nlm.nih.gov/33214785/ "DO", https://pubmed.ncbi.nlm.nih.gov/36815622/ "DO", https://www.cdc.gov/hai/organisms/bcepacia.html "DO"]
is_a: DOID:0050340 ! opportunistic bacterial infectious disease
created_by: mtutaj
creation_date: 2024-01-31T11:15:04Z

[Term]
id: DOID:0070529
name: Sifrim-Hitz-Weiss syndrome
alt_id: DOID:9008154
def: "An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27479907/ "DO", https://pubmed.ncbi.nlm.nih.gov/27616479/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK561516/ "DO"]
synonym: "CHD4 Neurodevelopmental Disorder" EXACT []
synonym: "CHD4-RELATED DISORDER" EXACT []
synonym: "CHD4-related neurodevelopmental disorder" EXACT []
synonym: "CHD4-related neurodevelopmental syndrome" EXACT []
synonym: "SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME" EXACT []
synonym: "SIHIWES" EXACT []
xref: MIM:617159
xref: NCI:C201595
xref: ORDO:653712
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: mtutaj
creation_date: 2024-01-31T11:16:29Z

[Term]
id: DOID:0070530
name: foveal hypoplasia 1
alt_id: DOID:9003088
alt_id: MIM:136520
def: "A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)" [https://disorders.eyes.arizona.edu/category/alternate-names/odonnell-pappas-syndrome "DO", https://eyewiki.org/Foveal_Hypoplasia "DO", https://pubmed.ncbi.nlm.nih.gov/12721955/ "DO", https://pubmed.ncbi.nlm.nih.gov/24290379/ "DO", https://pubmed.ncbi.nlm.nih.gov/7065945/ "DO"]
synonym: "FOVEAL HYPOPLASIA 1 WITH CATARACT" NARROW []
synonym: "FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES" EXACT []
synonym: "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract" EXACT []
synonym: "FOVEAL HYPOPLASIA AND CATARACT" NARROW []
synonym: "Foveal Hypoplasia and Presenile Cataract Syndrome" EXACT []
synonym: "Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts" EXACT []
synonym: "Foveal hypoplasia, presenile cataract" EXACT []
synonym: "foveal hypoplasia-presenile cataract syndrome" NARROW []
synonym: "FOVEAL HYPOPLASIA WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES" EXACT []
synonym: "FVH1" EXACT []
synonym: "O'Donnell-Pappas syndrome" EXACT []
xref: MESH:C537858
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:5679 ! retinal disease
is_a: DOID:83 ! cataract
is_a: DOID:9001923 ! Foveal Hypoplasia
created_by: mtutaj
creation_date: 2024-01-31T11:19:30Z

[Term]
id: DOID:0070531
name: foveal hypoplasia 2
alt_id: DOID:9005271
alt_id: MIM:609218
def: "A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24045842/ "DO", https://pubmed.ncbi.nlm.nih.gov/24290379/ "DO", https://pubmed.ncbi.nlm.nih.gov/33498813/ "DO"]
synonym: "FHONDA" EXACT []
synonym: "FHONDA syndrome" NARROW []
synonym: "FOVEAL HYPOPLASIA 2 AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS" EXACT []
synonym: "FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM" NARROW []
synonym: "FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS" NARROW []
synonym: "FOVEAL HYPOPLASIA 2 WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS" EXACT []
synonym: "Foveal Hypoplasia and Anterior Segment Dysgenesis" EXACT []
synonym: "FOVEAL HYPOPLASIA AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS" EXACT []
synonym: "foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis" NARROW []
synonym: "FVH2" EXACT []
xref: MESH:C563774
xref: ORDO:397618
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5679 ! retinal disease
is_a: DOID:9001923 ! Foveal Hypoplasia
is_a: DOID:9008296 ! Eye Abnormalities
created_by: mtutaj
creation_date: 2024-01-31T11:24:31Z

[Term]
id: DOID:0070532
name: aniridia 1
alt_id: DOID:9002455
def: "An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. (DO)" [https://eyewiki.org/Aniridia "DO", https://pubmed.ncbi.nlm.nih.gov/12721955/ "DO"]
synonym: "AN1" EXACT []
synonym: "AN2, formerly" RELATED []
synonym: "aniridia 2, formerly" RELATED []
synonym: "aniridia II, formerly" RELATED []
synonym: "aniridia type 2, formerly" RELATED []
synonym: "CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY" EXACT []
xref: MESH:C536372
xref: MIM:106210
xref: MONDO:0024507
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12271 ! aniridia
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:83 ! cataract
created_by: mtutaj
creation_date: 2024-01-31T11:27:45Z

[Term]
id: DOID:0070533
name: long QT syndrome 16
alt_id: DOID:9007211
def: "A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25460178/ "DO", https://pubmed.ncbi.nlm.nih.gov/31454269/ "DO"]
synonym: "catecholaminergic polymorphic ventricular tachycardia 6" NARROW []
synonym: "CPVT6" NARROW []
synonym: "LQT16" EXACT []
xref: MIM:618782
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia
is_a: DOID:2843 ! long QT syndrome
created_by: mtutaj
creation_date: 2024-02-28T16:22:18Z

[Term]
id: DOID:0070534
name: arrhythmogenic left ventricular cardiomyopathy
def: "An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31637441/ "DO"]
synonym: "ALVC" EXACT []
synonym: "left-dominant arrhythmogenic cardiomyopathy" EXACT []
synonym: "left ventricular ACM" EXACT []
xref: ORDO:293888
is_a: DOID:0060036 ! intrinsic cardiomyopathy
created_by: mtutaj
creation_date: 2024-02-28T16:25:06Z

[Term]
id: DOID:0070535
name: arrhythmogenic biventricular cardiomyopathy
def: "An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31637441/ "DO"]
synonym: "biventricular ACM" EXACT []
xref: ORDO:293899
is_a: DOID:0060036 ! intrinsic cardiomyopathy
created_by: mtutaj
creation_date: 2024-02-28T16:31:10Z

[Term]
id: DOID:0070536
name: neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
alt_id: DOID:9006904
def: "An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34163037/ "DO"]
synonym: "NEDHLSS" EXACT []
xref: MIM:620029
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:0080001 ! bone disease
is_a: DOID:1826 ! epilepsy
is_a: DOID:9005466 ! Language Development Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: mtutaj
creation_date: 2024-02-28T16:34:44Z

[Term]
id: DOID:0070537
name: spastic tetraplegia, thin corpus callosum, and progressive microcephaly
alt_id: DOID:9004845
def: "An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25930971/ "DO", https://pubmed.ncbi.nlm.nih.gov/26138499/ "DO"]
synonym: "SPATCCM" EXACT []
xref: GARD:13425
xref: MIM:616657
xref: ORDO:447997
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:10907 ! microcephaly
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
created_by: mtutaj
creation_date: 2024-02-28T16:38:08Z

[Term]
id: DOID:0070538
name: syndromic X-linked intellectual developmental disorder Bain type
alt_id: DOID:9008950
def: "A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27545675/ "DO", https://pubmed.ncbi.nlm.nih.gov/37372334/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK584018/ "DO"]
synonym: "Bain type of X-linked syndromic mental retardation" EXACT []
synonym: "HNRNPH2-related neurodevelopmental disorder" EXACT []
synonym: "HNRNPH2-RNDD" EXACT []
synonym: "Mental Retardation, X-linked, Syndrome, Bain Type" EXACT []
synonym: "MRXSB" EXACT []
synonym: "syndromic X-linked mental retardation, Bain type" EXACT []
xref: GARD:13442
xref: MIM:300986
xref: NCI:C183311
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
created_by: mtutaj
creation_date: 2024-02-28T16:41:03Z

[Term]
id: DOID:0070539
name: Halperin-Birk syndrome
alt_id: DOID:9004325
def: "A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30464055/ "DO"]
synonym: "HLBKS" EXACT []
synonym: "NEDSOSB" EXACT []
synonym: "neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies" EXACT []
xref: EFO:0010662
xref: MIM:618651
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10970 ! spastic quadriplegic cerebral palsy
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2024-04-01T11:20:47Z

[Term]
id: DOID:0070540
name: mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
alt_id: DOID:9003746
def: "A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25125611/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK542806/ "DO"]
synonym: "ECHS1D" EXACT []
synonym: "ECHS1-RELATED CONDITION" EXACT []
xref: GARD:13019
xref: MIM:616277
xref: MONDO:0014563
xref: NCI:C174218
xref: ORDO:653880
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:3652 ! Leigh disease
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2024-06-21T10:02:44Z

[Term]
id: DOID:0070541
name: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
alt_id: DOID:9006234
def: "An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3128690/ "DO"]
synonym: "3-hydroxy 3-methyl glutaric aciduria" EXACT []
synonym: "3-hydroxy-3-methylglutaric aciduria" EXACT []
synonym: "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency" EXACT []
synonym: "3-Hydroxyl 3-Methyl Glutaric Aciduria" EXACT []
synonym: "Deficiency of Hydroxymethylglutaryl-CoA Lyase" EXACT []
synonym: "HL DEFICIENCY" EXACT []
synonym: "HMGCLD" EXACT []
synonym: "HMGCL deficiency" EXACT []
synonym: "HMG CoA lyase deficiency" EXACT []
synonym: "hydroxymethylglutaric aciduria" EXACT []
xref: GARD:8387
xref: MESH:C538324
xref: MIM:246450
xref: MONDO:0009520
xref: NCI:C84523
xref: ORDO:20
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2024-06-21T10:07:45Z

[Term]
id: DOID:0070542
name: neurodevelopmental disorder with spastic paraplegia and microcephaly
alt_id: DOID:9002164
def: "An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29882329/ "DO", https://pubmed.ncbi.nlm.nih.gov/31471722/ "DO"]
synonym: "autosomal recessive mental retardation 49" EXACT []
synonym: "glutamate pyruvate transaminase 2 deficiency" EXACT []
synonym: "GPT2 deficiency" EXACT []
synonym: "GPT2-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
synonym: "MRT49" EXACT []
synonym: "NEDSPM" EXACT []
xref: MIM:616281
xref: MONDO:0014567
xref: ORDO:477673
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2024-06-21T10:17:40Z

[Term]
id: DOID:0070543
name: neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities
alt_id: DOID:9001963
def: "An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33015733/ "DO"]
synonym: "NEDCASB" EXACT []
synonym: "SHMT2-RELATED CONDITION" EXACT []
xref: MIM:619121
xref: MONDO:0030866
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007428 ! Muscle Spasticity
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2024-06-21T10:23:01Z

[Term]
id: DOID:0070544
name: congenital glutamine deficiency
alt_id: DOID:9008125
def: "An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21353613/ "DO"]
synonym: "GLND" EXACT []
synonym: "Glutamine synthase deficiency, congenital systemic" EXACT []
synonym: "Glutamine synthetase deficiency, congenital systemic" EXACT []
xref: GARD:9848
xref: MESH:C536832
xref: MIM:610015
xref: MONDO:0012393
xref: ORDO:71278
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2024-06-21T10:26:08Z

[Term]
id: DOID:0070545
name: developmental and epileptic encephalopathy 116
alt_id: DOID:9006440
def: "A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/38579670/ "DO"]
synonym: "DEE116" EXACT []
synonym: "GLUTAMINE SYNTHETASE STABILIZATION DISORDER" EXACT []
xref: MIM:620806
xref: MONDO:0970945
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2024-06-21T10:30:34Z

[Term]
id: DOID:0070546
name: primary pigmented nodular adrenocortical disease 1
alt_id: DOID:9005321
def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12213893/ "DO"]
synonym: "adrenal Cushing syndrome, due to PPNAD1" EXACT []
synonym: "Adrenocortical Nodular Dysplasia, Primary" EXACT []
synonym: "Pigmented Micronodular Adrenocortical Disease, Primary, 1" EXACT []
synonym: "PPNAD1" EXACT []
xref: MESH:C566469
xref: MIM:610489
xref: MONDO:0012509
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease
created_by: mtutaj
creation_date: 2024-06-28T16:35:03Z

[Term]
id: DOID:0070547
name: primary pigmented nodular adrenocortical disease 2
alt_id: DOID:9002348
def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16767104/ "DO"]
synonym: "adrenal Cushing syndrome, due to PPNAD2" EXACT []
synonym: "PDE11A-RELATED CONDITION" EXACT []
synonym: "Pigmented Micronodular Adrenocortical Disease, Primary, 2" EXACT []
synonym: "PPNAD2" EXACT []
xref: MESH:C566472
xref: MIM:610475
xref: MONDO:0012505
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease
created_by: mtutaj
creation_date: 2024-06-28T16:38:18Z

[Term]
id: DOID:0070548
name: primary pigmented nodular adrenocortical disease 3
alt_id: DOID:9005327
def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18272904/ "DO"]
synonym: "adrenal Cushing syndrome, due to PPNAD3" EXACT []
synonym: "PPNAD3" EXACT []
xref: MIM:614190
xref: MONDO:0013616
is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease
created_by: mtutaj
creation_date: 2024-06-28T16:42:12Z

[Term]
id: DOID:0070549
name: primary pigmented nodular adrenocortical disease 4
alt_id: DOID:9006355
def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24571724 "DO", https://pubmed.ncbi.nlm.nih.gov/25924874/ "DO"]
synonym: "adrenal Cushing syndrome, due to PPNAD4" EXACT []
synonym: "chromosome 19p13 duplication syndrome" EXACT []
synonym: "PPNAD4" EXACT []
xref: MIM:615830
xref: MONDO:0014359
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease
created_by: mtutaj
creation_date: 2024-06-28T16:42:25Z

[Term]
id: DOID:0070550
name: KRT1-related nonepidermolytic palmoplantar keratoderma
def: "A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12406346/ "DO", https://pubmed.ncbi.nlm.nih.gov/7528239/ "DO"]
synonym: "KRT1-related NEPPK" EXACT []
xref: GARD:5186
xref: MIM:600962
xref: ORDO:530838
is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma
created_by: mtutaj
creation_date: 2024-06-28T16:49:42Z

[Term]
id: DOID:0070551
name: epidermolytic palmoplantar keratoderma 2
alt_id: DOID:9006539
def: "An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11286630/ "DO", https://pubmed.ncbi.nlm.nih.gov/37122192/ "DO"]
synonym: "EPPK2" EXACT []
xref: MIM:620411
xref: MONDO:0957303
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080223 ! epidermolytic palmoplantar keratoderma
created_by: mtutaj
creation_date: 2024-06-28T16:57:29Z

[Term]
id: DOID:0070552
name: epidermolytic palmoplantar keratoderma 1
alt_id: DOID:9007353
def: "An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12192490/ "DO", https://pubmed.ncbi.nlm.nih.gov/30666268 "DO"]
synonym: "Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads" EXACT []
synonym: "EPPK1" EXACT []
synonym: "KERATOSIS OF GREITHER" RELATED []
xref: MESH:C564171
xref: MIM:144200
xref: MONDO:0007758
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080223 ! epidermolytic palmoplantar keratoderma
created_by: mtutaj
creation_date: 2024-06-28T17:01:34Z

[Term]
id: DOID:0070553
name: focal palmoplantar and gingival keratosis
alt_id: DOID:9008814
def: "A palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva. (DO)" [https://pubmed.ncbi.nlm.nih.gov/133736/ "DO", https://pubmed.ncbi.nlm.nih.gov/15761417/ "DO", https://pubmed.ncbi.nlm.nih.gov/33262878/ "DO"]
synonym: "focal palmoplantar and gingival hyperkeratosis syndrome" EXACT []
synonym: "focal palmoplantar and oral mucosa hyperkeratosis" EXACT []
synonym: "keratosis, focal, palmoplantar, gingival" EXACT []
xref: GARD:3098
xref: MESH:C536157
xref: MIM:148730
xref: MONDO:0007860
xref: ORDO:2200
is_a: DOID:1483 ! gingival disease
is_a: DOID:3390 ! palmoplantar keratosis
created_by: mtutaj
creation_date: 2024-06-28T17:06:52Z

[Term]
id: DOID:0070554
name: palmoplantar keratoderma and woolly hair
alt_id: DOID:9005974
alt_id: DOID:9007018
def: "A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24671081/ "DO", https://pubmed.ncbi.nlm.nih.gov/35283492 "DO"]
synonym: "keratoderma with woolly hair type IV" EXACT []
synonym: "PPKWH" EXACT []
synonym: "SFWHS" EXACT []
synonym: "Skin Fragility-Woolly Hair Syndrome" EXACT []
synonym: "woolly hair-palmoplantar keratoderma syndrome type 4" EXACT []
xref: MESH:C564359
xref: MIM:616099
xref: MONDO:0014492
xref: ORDO:420686
is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111572 ! familial woolly hair syndrome
created_by: mtutaj
creation_date: 2024-06-28T17:14:13Z

[Term]
id: DOID:0070555
name: Nagashima-type palmoplantar keratosis
alt_id: DOID:9000205
def: "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24207119/ "DO", https://pubmed.ncbi.nlm.nih.gov/24773080/ "DO", https://pubmed.ncbi.nlm.nih.gov/35178744/ "DO"]
synonym: "NPPK" EXACT []
synonym: "palmoplantar keratoderma Nagashima type" EXACT []
synonym: "PPKN" EXACT []
synonym: "SERPINB7-RELATED CONDITION" EXACT []
xref: MIM:615598
xref: MONDO:0014272
xref: ORDO:140966
is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9002223 ! Diffuse Palmoplantar Keratoderma
created_by: mtutaj
creation_date: 2024-07-01T08:54:42Z

[Term]
id: DOID:0070556
name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1
alt_id: DOID:9002943
def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2. (DO)" [https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/21885617/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1874/ "DO"]
synonym: "CAMRQ1" EXACT []
synonym: "CAMRQ syndrome 1" EXACT []
synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1" EXACT []
synonym: "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1" EXACT []
synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 1" EXACT []
synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1" EXACT []
synonym: "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)" EXACT []
synonym: "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1" EXACT []
synonym: "CHMRQ1" EXACT []
synonym: "Des-Vldlr" EXACT []
synonym: "dysequilibrium syndrome-VLDLR" EXACT []
synonym: "VLDLR-associated cerebellar hypoplasia" EXACT []
synonym: "VLDLR Cerebellar Hypoplasia" EXACT []
synonym: "VLDLR-CH" EXACT []
synonym: "VLDLRCH" EXACT []
xref: MIM:224050
xref: MONDO:0024542
is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
created_by: mtutaj
creation_date: 2024-07-31T15:14:40Z

[Term]
id: DOID:0070557
name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2
alt_id: DOID:9006893
def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21885617/ "DO", https://pubmed.ncbi.nlm.nih.gov/22686558/ "DO"]
synonym: "CAMRQ2" EXACT []
synonym: "CAMRQ syndrome 2" EXACT []
synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2" EXACT []
synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 2" EXACT []
synonym: "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 2" EXACT []
xref: MESH:C567656
xref: MIM:610185
xref: MONDO:0012430
is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
created_by: mtutaj
creation_date: 2024-07-31T15:17:44Z

[Term]
id: DOID:0070558
name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3
alt_id: DOID:9005300
def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19461874/ "DO", https://pubmed.ncbi.nlm.nih.gov/32808436/ "DO", https://pubmed.ncbi.nlm.nih.gov/38581205/ "DO"]
synonym: "CAMRQ3" EXACT []
synonym: "CAMRQ syndrome 3" EXACT []
synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3" EXACT []
synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 3" EXACT []
synonym: "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3" EXACT []
xref: MESH:C567690
xref: MIM:613227
xref: MONDO:0013188
is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
created_by: mtutaj
creation_date: 2024-08-02T09:27:15Z

[Term]
id: DOID:0070559
name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4
alt_id: DOID:9006313
def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22892528/ "DO", https://pubmed.ncbi.nlm.nih.gov/31612321/ "DO"]
synonym: "CAMRQ4" EXACT []
synonym: "CAMRQ syndrome 4" EXACT []
synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4" EXACT []
synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 4" EXACT []
synonym: "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4" EXACT []
xref: MIM:615268
xref: MONDO:0014104
is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome
created_by: mtutaj
creation_date: 2024-08-02T09:29:01Z

[Term]
id: DOID:0070560
name: glucose transporter type 1 deficiency syndrome
alt_id: DOID:9007802
def: "A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 on chromosome 1p34.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31605543/ "DO", https://pubmed.ncbi.nlm.nih.gov/36315575/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1430/ "DO"]
synonym: "Glucose transport defect, blood-brain barrier" EXACT []
synonym: "Glucose Transporter Protein Syndrome" EXACT []
synonym: "Glucose transporter type1 (GLUT-1) deficiency" EXACT []
synonym: "Glucose Transporter Type 1 Deficiency Syndrome" EXACT []
synonym: "GLUT1 Deficiency Syndrome" EXACT []
synonym: "GLUT1DS" EXACT []
synonym: "PROGRESSIVE EXTRAPYRAMIDAL MOVEMENT DISORDER" EXACT []
xref: MESH:C536830
xref: MIM:PS606777
xref: MONDO:0000188
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:225 ! syndrome
is_a: DOID:4194 ! glucose metabolism disease
created_by: mtutaj
creation_date: 2024-08-02T09:31:34Z

[Term]
id: DOID:0070561
name: glucose transporter type 1 deficiency syndrome 1
def: "A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36315575/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1430/ "DO"]
synonym: "classic glucose transporter type 1 deficiency syndrome" EXACT []
synonym: "classic GLUT1 deficiency syndrome" EXACT []
synonym: "classic GLUT1-DS" EXACT []
synonym: "De Vivo disease" EXACT []
synonym: "Encephalopathy Due To Glut1 Deficiency" EXACT []
synonym: "GLUT1 deficiency syndrome 1" EXACT []
synonym: "GLUT1 deficiency syndrome 1, autosomal recessive" NARROW []
synonym: "GLUT1DS1" EXACT []
xref: EFO:0009139
xref: GARD:9265
xref: MIM:606777
xref: MONDO:0011724
xref: NCI:C168599
xref: ORDO:71277
is_a: DOID:0070560 ! glucose transporter type 1 deficiency syndrome
created_by: mtutaj
creation_date: 2024-08-02T09:36:50Z

[Term]
id: DOID:0070562
name: Fanconi-Bickel syndrome
def: "A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3153325/ "DO"]
synonym: "Fanconi Type Glycogenosis" EXACT []
synonym: "FBS" EXACT []
synonym: "glycogenosis type XI" EXACT []
synonym: "glycogen storage disease XI" RELATED []
xref: GARD:2268
xref: MIM:227810
xref: NCI:C168998
xref: ORDO:2088
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4194 ! glucose metabolism disease
created_by: mtutaj
creation_date: 2024-08-02T09:49:42Z

[Term]
id: DOID:0070563
name: glucose-galactose malabsorption
alt_id: DOID:9001750
def: "A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20486940/ "DO"]
synonym: "Carbohydrate Intolerance" EXACT []
synonym: "Complex Carbohydrate Intolerance" EXACT []
synonym: "CONGENITAL GLUCOSE-GALACTOSE MALABSORPTION" EXACT []
synonym: "GGM" EXACT []
synonym: "GM" EXACT []
synonym: "monosaccharide malabsorption" EXACT []
synonym: "SGLT1 deficiency" EXACT []
xref: GARD:6521
xref: MESH:C562602
xref: MIM:606824
xref: MONDO:0011731
xref: ORDO:35710
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4194 ! glucose metabolism disease
is_a: DOID:9002984 ! Malabsorption Syndromes
created_by: mtutaj
creation_date: 2024-08-02T10:04:12Z

[Term]
id: DOID:0070564
name: dialysis disequilibrium syndrome
def: "A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26120445 "DO", https://www.ncbi.nlm.nih.gov/books/NBK559018/ "DO"]
synonym: "dialysis dysequilibrium syndrome" EXACT []
xref: NCI:C114781
is_a: DOID:225 ! syndrome
created_by: mtutaj
creation_date: 2024-08-29T18:34:30Z

[Term]
id: DOID:0070565
name: spermatogenic failure 66
alt_id: DOID:9000088
def: "A spermatogenic failure characterized by total globozoospermia that has_material_basis_in homozygous mutation in the ZPBP gene on chromosome 7p12.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31985809/ "DO"]
synonym: "SPGF66" EXACT []
xref: MIM:619799
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112312 ! male infertility due to globozoospermia
created_by: mtutaj
creation_date: 2024-08-29T18:36:15Z

[Term]
id: DOID:0070566
name: spermatogenic failure 67
alt_id: DOID:9001970
def: "A spermatogenic failure characterized by globozoospermia that has_material_basis_in homozygous mutation in the CCDC62 gene on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31985809/ "DO"]
synonym: "SPGF67" EXACT []
xref: MIM:619803
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112312 ! male infertility due to globozoospermia
created_by: mtutaj
creation_date: 2024-08-29T18:39:14Z

[Term]
id: DOID:0070567
name: spermatogenic failure 68
alt_id: DOID:9000182
def: "A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the C2CD6 gene on chromosome 2q33.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31985809/ "DO"]
synonym: "SPGF68" EXACT []
xref: MIM:619805
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:41:17Z

[Term]
id: DOID:0070568
name: spermatogenic failure 69
alt_id: DOID:9002042
def: "A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the GGN on chromosome 19q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31985809/ "DO", https://pubmed.ncbi.nlm.nih.gov/33108537/ "DO"]
synonym: "SPGF69" EXACT []
xref: MIM:619826
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:42:59Z

[Term]
id: DOID:0070569
name: spermatogenic failure 70
alt_id: DOID:9001327
def: "A spermatogenic failure characterized by azoospermia or sperm immotility and necrozoospermia that has_material_basis_in homozygous mutation in the PDHA2 gene on chromosome 4q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29581481/ "DO", https://pubmed.ncbi.nlm.nih.gov/35172124/ "DO"]
synonym: "SPGF70" EXACT []
xref: MIM:619828
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:44:37Z

[Term]
id: DOID:0070570
name: spermatogenic failure 71
alt_id: DOID:9004400
def: "A spermatogenic failure characterized by nonobstructive azoospermia that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32719396/ "DO", https://pubmed.ncbi.nlm.nih.gov/33713115/ "DO"]
synonym: "SPGF71" EXACT []
xref: MIM:619831
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:45:49Z

[Term]
id: DOID:0070571
name: spermatogenic failure 72
alt_id: DOID:9005229
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in lack of sperm motility, that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32323121/ "DO"]
synonym: "SPGF72" EXACT []
xref: MIM:619867
xref: MONDO:0030809
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:47:28Z

[Term]
id: DOID:0070572
name: spermatogenic failure 73
alt_id: DOID:9004961
def: "A spermatogenic failure characterized by nonobstructive azoospermia due to meiotic arrest that has_material_basis_in homozygous or compound heterozygous mutation in the MOV10L1 gene on chromosome 22q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35476666/ "DO"]
synonym: "SPGF73" EXACT []
xref: MIM:619878
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:48:49Z

[Term]
id: DOID:0070573
name: spermatogenic failure 74
alt_id: DOID:9002151
def: "A spermatogenic failure characterized by nonobstructive azoospermia due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34755185/ "DO"]
synonym: "SPGF74" EXACT []
xref: MIM:619937
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:50:06Z

[Term]
id: DOID:0070574
name: spermatogenic failure 75
alt_id: DOID:9003010
def: "A spermatogenic failure characterized by nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the SHOC1 gene on chromosome 9q31.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32741963/ "DO", https://pubmed.ncbi.nlm.nih.gov/32900840/ "DO"]
synonym: "SPGF75" EXACT []
xref: MIM:619949
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:51:25Z

[Term]
id: DOID:0070575
name: spermatogenic failure 76
alt_id: DOID:9002551
def: "A spermatogenic failure characterized by oligoasthenoteratozoospermia that has_material_basis_in homozygous mutation in the CCDC34 gene on chromosome 11p14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34348960/ "DO", https://pubmed.ncbi.nlm.nih.gov/38856307/ "DO"]
synonym: "SPGF76" EXACT []
xref: MIM:620084
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:52:30Z

[Term]
id: DOID:0070576
name: spermatogenic failure 77
alt_id: DOID:9005311
def: "A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36150389/ "DO"]
synonym: "SPGF77" EXACT []
xref: MIM:620103
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:53:43Z

[Term]
id: DOID:0070577
name: spermatogenic failure 78
alt_id: DOID:9006326
def: "A spermatogenic failure characterized by sperm with abnormal acrosome structure due to a manchette assembly defect that has_material_basis_in homozygous mutation in the IQCN gene on chromosome 19p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36321563/ "DO"]
synonym: "SPGF78" EXACT []
xref: MIM:620170
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:54:59Z

[Term]
id: DOID:0070578
name: spermatogenic failure 79
alt_id: DOID:9003192
def: "A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34980136/ "DO", https://pubmed.ncbi.nlm.nih.gov/35551387/ "DO"]
synonym: "SPGF79" EXACT []
xref: MIM:620196
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:56:28Z

[Term]
id: DOID:0070579
name: spermatogenic failure 80
alt_id: DOID:9000573
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in reduced or absent progressive sperm motility, that has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34169321/ "DO"]
synonym: "DRC1-RELATED CONDITION" BROAD []
synonym: "SPGF80" EXACT []
xref: MIM:620222
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:57:39Z

[Term]
id: DOID:0070580
name: spermatogenic failure 81
alt_id: DOID:9003963
def: "A spermatogenic failure characterized by oligoasthenoteratozoospermia with acrosomal hypoplasia and detachment of the acrosome from the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the TEKT3 gene on chromosome 17p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36708031/ "DO"]
synonym: "SPGF81" EXACT []
xref: MIM:620277
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T18:58:54Z

[Term]
id: DOID:0070581
name: spermatogenic failure 82
alt_id: DOID:9008398
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous mutation in the AKAP3 gene on chromosome 12p13.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35228300/ "DO"]
synonym: "SPGF82" EXACT []
xref: MIM:620353
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:00:30Z

[Term]
id: DOID:0070582
name: spermatogenic failure 83
alt_id: DOID:9002373
def: "A spermatogenic failure characterized by asthenozoospermia and multiple flagella morphological defects due to loss in the inner dynein arms that has_material_basis_in homozygous mutation in the DNALI1 gene on chromosome 1p34.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36726469/ "DO", https://pubmed.ncbi.nlm.nih.gov/36792588/ "DO"]
synonym: "SPGF83" EXACT []
xref: MIM:620354
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:9001513 ! Asthenozoospermia
created_by: mtutaj
creation_date: 2024-08-29T19:01:40Z

[Term]
id: DOID:0070583
name: spermatogenic failure 84
alt_id: DOID:9001613
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced motility, that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP61 gene on chromosome 20p11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34792097/ "DO", https://pubmed.ncbi.nlm.nih.gov/35387802/ "DO"]
synonym: "SPGF84" EXACT []
xref: MIM:620409
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:02:57Z

[Term]
id: DOID:0070584
name: spermatogenic failure 85
alt_id: DOID:9007726
def: "A spermatogenic failure characterized by globozoospermia and reduced progressive motility that has_material_basis_in homozygous mutation in the SPACA1 gene on chromosome 6q15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34172998/ "DO"]
synonym: "SPGF85" EXACT []
xref: MIM:620490
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112312 ! male infertility due to globozoospermia
created_by: mtutaj
creation_date: 2024-08-29T19:04:18Z

[Term]
id: DOID:0070585
name: spermatogenic failure 86
alt_id: DOID:9003593
def: "A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32923619/ "DO", https://pubmed.ncbi.nlm.nih.gov/34727571/ "DO"]
synonym: "SPGF86" EXACT []
xref: MIM:620499
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:05:55Z

[Term]
id: DOID:0070586
name: spermatogenic failure 87
alt_id: DOID:9008317
def: "A spermatogenic failure characterized by total fertilization failure due to inability of mutant sperm to penetrate the zona pellucida that has_material_basis_in homozygous mutation in the ACR gene on chromosome 22q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37004249/ "DO"]
synonym: "SPGF87" EXACT []
xref: MIM:620500
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:07:15Z

[Term]
id: DOID:0070587
name: spermatogenic failure 88
alt_id: DOID:9003682
def: "A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35587281/ "DO", https://pubmed.ncbi.nlm.nih.gov/35674372/ "DO"]
synonym: "SPGF88" EXACT []
xref: MIM:620547
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:12:27Z

[Term]
id: DOID:0070588
name: spermatogenic failure 89
alt_id: DOID:9006023
def: "A spermatogenic failure characterized by severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the AK9 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37713809/ "DO"]
synonym: "SPGF89" EXACT []
xref: MIM:620705
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:14:14Z

[Term]
id: DOID:0070589
name: spermatogenic failure 90
alt_id: DOID:9007862
def: "A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC12 gene on chromosome 6p21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35534203/ "DO"]
synonym: "SPGF90" EXACT []
xref: MIM:620744
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:15:54Z

[Term]
id: DOID:0070590
name: spermatogenic failure 91
alt_id: DOID:9005577
def: "A spermatogenic failure characterized by teratozoospermia, consisting of a misshapen rounded sperm head and detachment of the acrosome, and sperm that fail to attach to the zona pellucida that has_material_basis_in homozygous or compound heterozygous mutation in the CCIN gene on chromosome 9p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31985809/ "DO", https://pubmed.ncbi.nlm.nih.gov/36546111/ "DO"]
synonym: "SPGF91" EXACT []
xref: MIM:620838
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:17:10Z

[Term]
id: DOID:0070591
name: spermatogenic failure 92
alt_id: DOID:9004215
def: "A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous mutation in the LRRC23 gene on chromosome 12p13.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37804054/ "DO", https://pubmed.ncbi.nlm.nih.gov/38091523/ "DO"]
synonym: "SPGF92" EXACT []
xref: MIM:620848
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:18:26Z

[Term]
id: DOID:0070592
name: spermatogenic failure 93
alt_id: DOID:9005079
def: "A spermatogenic failure characterized by nonosbtructive azoospermia or multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the STK33 gene on chromosome 11p15.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34155512/ "DO"]
synonym: "SPGF93" EXACT []
xref: MIM:620849
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:19:45Z

[Term]
id: DOID:0070593
name: spermatogenic failure 94
alt_id: DOID:9008649
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CCDC146 gene on chromosome 7q11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/38441556/ "DO"]
synonym: "SPGF94" EXACT []
xref: MIM:620850
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:20:56Z

[Term]
id: DOID:0070594
name: spermatogenic failure 95
alt_id: DOID:9009125
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in  homozygous mutation in the CFAP57 gene on chromosome 1p34.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36752199/ "DO"]
synonym: "SPGF95" EXACT []
xref: MIM:620917
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:22:17Z

[Term]
id: DOID:0070595
name: X-linked spermatogenic failure 4
alt_id: DOID:9001624
def: "A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that has_material_basis_in hemizygous mutation in the GCNA gene on chromosome Xq13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33963445/ "DO", https://pubmed.ncbi.nlm.nih.gov/34413498/ "DO", https://pubmed.ncbi.nlm.nih.gov/35172124/ "DO"]
synonym: "SPGFX4" EXACT []
xref: MIM:301077
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:23:33Z

[Term]
id: DOID:0070596
name: X-linked spermatogenic failure 5
alt_id: DOID:9003990
def: "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the SSX1 gene on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36796361/ "DO"]
synonym: "SPGFX5" EXACT []
xref: MIM:301099
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:25:35Z

[Term]
id: DOID:0070597
name: X-linked spermatogenic failure 6
alt_id: DOID:9005967
def: "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the USP26 gene on chromosome Xq26.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34202084/ "DO"]
synonym: "SPGFX6" EXACT []
xref: MIM:301101
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:26:43Z

[Term]
id: DOID:0070598
name: X-linked spermatogenic failure 7
alt_id: DOID:9005480
def: "A spermatogenic failure characterized by sperm with insufficient individualization, excessive residual cytoplasm, acrosome defects, and abnormalities of the head and flagella, resulting in significantly reduced sperm concentration and progressive motility, that has_material_basis_in hemizygous mutation in the CT55 gene on chromosome Xq26.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36481789/ "DO"]
synonym: "SPGFX7" EXACT []
xref: MIM:301106
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:28:10Z

[Term]
id: DOID:0070599
name: X-linked spermatogenic failure 8
alt_id: DOID:9006682
def: "A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that has_material_basis_in hemizygous mutation in the CYLC1 gene on chromosome Xq21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/38013430/ "DO", https://pubmed.ncbi.nlm.nih.gov/38573307/ "DO"]
synonym: "SPGFX8" EXACT []
xref: MIM:301119
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2024-08-29T19:29:36Z

[Term]
id: DOID:0080000
name: muscular disease
def: "A musculoskeletal system disease that affects the muscles. (DO)" [http://www.nlm.nih.gov/medlineplus/muscledisorders.html "DO"]
synonym: "muscle disorder" EXACT []
synonym: "muscle disorders" EXACT []
synonym: "muscular diseases" EXACT []
synonym: "SKELETAL MUSCLE DISEASE" NARROW []
xref: EFO:0002970
xref: MESH:D009135
is_a: DOID:17 ! musculoskeletal system disease
is_a: DOID:440 ! neuromuscular disease

[Term]
id: DOID:0080001
name: bone disease
def: "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. (DO)" [http://en.wikipedia.org/wiki/Bone_disease "DO"]
synonym: "bone diseases" EXACT []
synonym: "disorder of patella" NARROW []
synonym: "skeletal disease" EXACT []
synonym: "skeletal disorder" EXACT []
xref: EFO:0004260
xref: EFO:0009665
xref: ICD10CM:M89.9
xref: MESH:D001847
is_a: DOID:17 ! musculoskeletal system disease
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:0080005
name: bone remodeling disease
def: "A bone disease that results_in formation or resorption abnormalities located_in bone. (DO)" [http://en.wikipedia.org/wiki/Bone_remodeling "DO"]
is_a: DOID:0080001 ! bone disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0080006
name: bone development disease
def: "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. (DO)" [http://en.wikipedia.org/wiki/Dysplasia "DO"]
synonym: "BMPR1A SKELETAL DYSPLASIA SYNDROME" NARROW []
synonym: "bone dysplasia" EXACT []
synonym: "bone dysplasias" EXACT []
synonym: "developmental bone disease" EXACT []
synonym: "developmental bone diseases" EXACT []
synonym: "sclerosing bone dysplasias" RELATED []
xref: EFO:0005541
xref: MESH:D001848
is_a: DOID:0080001 ! bone disease
is_a: DOID:9008582 ! Developmental Disease

[Term]
id: DOID:0080007
name: bone deterioration disease
def: "A bone structure disease that results_in change or damage of structure located_in bone. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/004015.htm "DO"]
xref: RDO:9004312
is_a: DOID:0080010 ! bone structure disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0080008
name: ischemic bone disease
def: "A bone disease that results_in an interruption of blood supply located_in bone. (DO)" [http://en.wikipedia.org/wiki/Avascular_necrosis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm "DO"]
xref: EFO:0004259
xref: RDO:9004302
is_a: DOID:0080001 ! bone disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0080009
name: X-linked dominant disease
def: "A X-linked monogenic disease that has_material_basis_in dominant inheritance. (DO)" [https://en.wikipedia.org/wiki/X-linked_dominant_inheritance "DO"]
is_a: DOID:0050735 ! X-linked monogenic disease

[Term]
id: DOID:0080010
name: bone structure disease
def: "A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. (DO)" [http://en.wikipedia.org/wiki/Human_skeleton "DO"]
synonym: "ABNORMAL BONE STRUCTURE" EXACT []
synonym: "Abnormality of bone mineral density" NARROW []
xref: HP:0003330
xref: HP:0004348
xref: MP:0003795
is_a: DOID:0080001 ! bone disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0080011
name: bone resorption disease
def: "A bone remodeling disease that results in an abnormal decrease of bone density or mass. (DO)" [http://en.wikipedia.org/wiki/Bone_resorption "DO", https://www.ncbi.nlm.nih.gov/pubmed/11277085 "DO"]
synonym: "Bone Resorption" EXACT []
synonym: "Bone Resorptions" EXACT []
synonym: "Osteoclastic Bone Loss" EXACT []
synonym: "Osteoclastic Bone Losses" EXACT []
xref: MESH:D001862
is_a: DOID:0080001 ! bone disease
is_a: DOID:0080005 ! bone remodeling disease

[Term]
id: DOID:0080012
name: X-linked recessive disease
def: "A X-linked monogenic disease that has_material_basis_in recessive inheritance. (DO)" [https://en.wikipedia.org/wiki/X-linked_recessive_inheritance "DO"]
synonym: "X-linked recessive inheritance" EXACT []
is_a: DOID:0050735 ! X-linked monogenic disease

[Term]
id: DOID:0080014
name: chromosomal disease
def: "A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. (DO)" [http://en.wikipedia.org/wiki/Chromosome_abnormality "DO", https://www.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Sheet "DO"]
synonym: "Autosomal Chromosome Disorder" EXACT []
synonym: "autosomal chromosome disorders" EXACT []
synonym: "Chromosomal Disorder" EXACT []
synonym: "chromosomal disorders" EXACT []
synonym: "Chromosome Abnormality Disorder" EXACT []
synonym: "Chromosome Abnormality Disorders" EXACT []
synonym: "chromosome disorder" EXACT []
synonym: "chromosome disorders" EXACT []
xref: EFO:0003831
xref: MESH:D025063
xref: MONDO:0019040
is_a: DOID:630 ! genetic disease
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:0080015
name: physical disorder
def: "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. (DO)" [http://en.wikipedia.org/wiki/Congenital_disorder "DO"]
synonym: "congenital disorder" EXACT []
is_a: DOID:4 ! disease

[Term]
id: DOID:0080016
name: spina bifida
alt_id: OMIA:000938
def: "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development. (DO)" [https://en.wikipedia.org/wiki/Spina_bifida "DO", https://ghr.nlm.nih.gov/condition/spina-bifida "DO"]
synonym: "cleft spine" EXACT []
synonym: "open spine" EXACT []
synonym: "rachischises" EXACT []
synonym: "rachischisis" EXACT []
synonym: "schistorrhachis" EXACT []
synonym: "Spina Bifidas" EXACT []
synonym: "Spina Bifida, Susceptibility To" RELATED []
synonym: "spinal dysraphia" EXACT []
synonym: "spinal dysraphias" EXACT []
synonym: "spinal dysraphism" EXACT []
synonym: "spinal dysraphisms" EXACT []
synonym: "status dysraphicus" EXACT []
xref: EFO:0003105
xref: GARD:7673
xref: ICD9CM:741
xref: MESH:D016135
xref: NCI:C101214
is_a: DOID:0080074 ! neural tube defect

[Term]
id: DOID:0080018
name: dysbaric osteonecrosis
def: "An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. (DO)" [http://en.wikipedia.org/wiki/Dysbaric_osteonecrosis "DO"]
synonym: "Caisson disease of bone" EXACT []
synonym: "DON" EXACT []
is_a: DOID:0080008 ! ischemic bone disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0080019
name: metaphyseal dysplasia
alt_id: MIM:265900
def: "An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone. (DO)" [http://en.wikipedia.org/wiki/Metaphyseal_dysplasia "DO"]
synonym: "Bakwin-Krida syndrome" EXACT []
synonym: "Edwin Pyle disease" EXACT []
synonym: "metaphyseal dysplasia, Pyle type" EXACT []
synonym: "metaphyseal dysplasia with little involvement of the cranial bones" EXACT []
synonym: "PYL" EXACT []
synonym: "Pyle's disease" EXACT []
synonym: "Pyle-Cohn syndrome" EXACT []
synonym: "Pyle disease" EXACT []
synonym: "Pyle metaphyseal dysplasia" EXACT []
xref: MESH:C536252
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080020
name: Jansen's metaphyseal chondrodysplasia
alt_id: MIM:156400
alt_id: RDO:0003428
def: "A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. (DO)" [http://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia "DO", http://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype "DO"]
synonym: "Jansen disease" EXACT []
synonym: "Jansen metaphyseal chondrodysplasia" EXACT []
synonym: "Jansen metaphyseal dysostosis" EXACT []
synonym: "Jansen Type Metaphyseal Chondrodysplasia" EXACT []
synonym: "metaphyseal chondrodysplasia Murk Jansen type" EXACT []
xref: MESH:C537564
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080019 ! metaphyseal dysplasia

[Term]
id: DOID:0080021
name: Schmid metaphyseal chondrodysplasia
alt_id: MIM:156500
alt_id: OMIA:001718
def: "A metaphyseal dysplasia that results_in dwarfism and bowed legs. (DO)" [http://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia "DO", http://www.ncbi.nlm.nih.gov/omim/156500 "DO"]
synonym: "COL10A1-RELATED CONDITION" EXACT []
synonym: "dwarfism, Schmid metaphyseal chondrodysplasia" EXACT []
synonym: "Japanese type spondylometaphyseal dysplasia" EXACT []
synonym: "MCDS" EXACT []
synonym: "Schmid type metaphyseal dysplasia" EXACT []
xref: GARD:7029
xref: MESH:C537352
is_a: DOID:0080019 ! metaphyseal dysplasia
is_a: DOID:9000073 ! Metaphyseal Chondrodysplasia

[Term]
id: DOID:0080026
name: otospondylomegaepiphyseal dysplasia, autosomal recessive
alt_id: MIM:215150
alt_id: MIM:249230
def: "An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. (DO)" [http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia "DO", http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia "DO", http://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm "DO", http://www.ncbi.nlm.nih.gov/omim/215150 "DO"]
synonym: "chondrodystrophy with sensorineural deafness" EXACT []
synonym: "Insley-Astley syndrome" EXACT []
synonym: "mega-epiphyseal dwarfism" EXACT []
synonym: "megaepiphyseal dwarfism" EXACT []
synonym: "NANCE-INSLEY SYNDROME" EXACT []
synonym: "Nance-Sweeney chondrodysplasia" EXACT []
synonym: "OSMED" EXACT []
synonym: "OSMEDB" EXACT []
synonym: "oto-spondylo-mega-epiphyseal dysplasia" EXACT []
synonym: "oto-spondylo-megaepiphyseal dysplasia" EXACT []
synonym: "Weissenbacher-Zweymuller syndrome, formerly" RELATED []
synonym: "WZS, formerly" RELATED []
xref: MESH:C536140
xref: MIM:PS184840
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0080027
name: spondyloepimetaphyseal dysplasia
def: "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. (DO)" [http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia "DO"]
synonym: "SPONDYLO-EPI-(META)-PHYSEAL DYSPLASIA" EXACT []
is_a: DOID:0060564 ! spinal disease
is_a: DOID:2256 ! osteochondrodysplasia
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0080028
name: spondyloepimetaphyseal dysplasia, Strudwick type
alt_id: MIM:184250
def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). (DO)" [http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia\,_Strudwick_type "DO", http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type "DO"]
synonym: "dappled metaphysis syndrome" EXACT []
synonym: "SED Strudwick" EXACT []
synonym: "SEMDC" EXACT []
synonym: "Semd, Strudwick type" EXACT []
synonym: "SEMDSTWK" EXACT []
synonym: "SMD" EXACT []
synonym: "Smed, Strudwick Type" EXACT []
synonym: "Smed, Type I" EXACT []
synonym: "spondylometaepiphyseal dysplasia congenita, Strudwick type" EXACT []
synonym: "spondylometaphyseal dysplasia" EXACT []
synonym: "spondylometaphyseal dysplasia (Smd)" EXACT []
synonym: "Strudwick syndrome" EXACT []
xref: GARD:134
xref: MESH:C537501
xref: ORDO:93346
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0080029
name: autosomal recessive spinocerebellar ataxia 16
def: "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24113144 "DO"]
synonym: "SCAR16" EXACT []
xref: MIM:615768
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0080030
name: spondyloepimetaphyseal dysplasia, Missouri type
alt_id: MIM:602111
def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. (DO)" [http://rarediseases.info.nih.gov/GARD/Condition/10618/Spondyloepimetaphyseal_dysplasia_Missouri_type.aspx "DO", http://www.ncbi.nlm.nih.gov/omim/602111 "DO", http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12287&Disease_Disease_Search_diseaseGroup=missouri&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29%20concerned=Spondyloepimetaphyseal-dysplasia--Missouri-type&title=Spondyloepimetaphyseal-dysplasia--Missouri-type&search=Disease_Search_Simple "DO"]
synonym: "MANDP1" NARROW []
synonym: "METAPHYSEAL ANADYSPLASIA 1" NARROW []
synonym: "MMP13-RELATED CONDITION" BROAD []
synonym: "SEMD, Missouri type" EXACT []
xref: MESH:C566574
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia

[Term]
id: DOID:0080031
name: fibrous dysplasia
def: "A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. (DO)" [http://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone "DO", http://orthoinfo.aaos.org/topic.cfm?topic=a00083 "DO", http://www.mayoclinic.com/health/fibrous-dysplasia/DS00991 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001234.htm "DO"]
xref: GARD:6444
xref: ICDO:8818/0
xref: NCI:C34609
is_a: DOID:0080005 ! bone remodeling disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0080032
name: craniodiaphyseal dysplasia
alt_id: MIM:218300
def: "An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. (DO)" [http://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1513 "DO"]
xref: GARD:1567
xref: MESH:C562940
is_a: DOID:4254 ! osteosclerosis
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0080033
name: craniometaphyseal dysplasia
def: "An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. (DO)" [http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia "DO", http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia "DO", https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK154653/ "DO"]
xref: MIM:PS123000
xref: ORDO:1522
is_a: DOID:4254 ! osteosclerosis
is_a: DOID:9006105 ! Craniomandibular Disorders
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0080036
name: SOST-related sclerosing bone dysplasia
def: "A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. (DO)" [http://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia "DO", http://rarediseases.info.nih.gov/GARD/Condition/4771/Sclerosteosis.aspx "DO", http://www.ncbi.nlm.nih.gov/omim/269500 "DO"]
synonym: "ELEVATED ALKALINE PHOSPHATASE" BROAD []
synonym: "endosteal hyperostosis, autosomal recessive" EXACT []
synonym: "hyperostosis corticalis generalisata" EXACT []
synonym: "hyperphosphatasemia tarda" EXACT []
synonym: "van Buchem disease" EXACT []
synonym: "VBCH" EXACT []
xref: MIM:239100
xref: MONDO:0009395
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:205 ! hyperostosis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0080037
name: Worth syndrome
alt_id: DOID:0111372
alt_id: MESH:C536527
alt_id: MIM:144750
def: "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. (DO)" [http://en.wikipedia.org/wiki/Worth_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/29709743 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12579474 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4942110 "DO"]
synonym: "autosomal dominant endosteal hyperostosis" EXACT []
synonym: "autosomal dominant osteosclerosis" EXACT []
synonym: "autosomal dominant osteosclerosis, Worth type" EXACT []
synonym: "autosomal dominant osteosclerosis, Worth type with torus palatinus" EXACT []
synonym: "benign form of Worth hyperostosis corticalis generalisata with torus platinus" EXACT []
synonym: "benign hyperostosis corticalis generalisata" EXACT []
synonym: "endosteal hyperostosis, Worth type" EXACT []
synonym: "Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus" EXACT []
synonym: "hyperostosis corticalis generalisata congenita" EXACT []
synonym: "osteosclerosis of the skull and enlarged mandible" EXACT []
synonym: "Worth's syndrome" EXACT []
synonym: "Worth disease" EXACT []
xref: GARD:390
xref: MESH:C536748
xref: ORDO:2790
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13533 ! osteopetrosis
is_a: DOID:205 ! hyperostosis
is_a: DOID:225 ! syndrome
is_a: DOID:4254 ! osteosclerosis
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0080038
name: pycnodysostosis
alt_id: MIM:265800
def: "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. (DO)" [http://en.wikipedia.org/wiki/Pycnodysostosis "DO"]
synonym: "PKND" EXACT []
synonym: "PYCD" EXACT []
synonym: "pycnodysostoses" EXACT []
synonym: "pyknodysostoses" EXACT []
synonym: "pyknodysostosis" EXACT []
xref: GARD:4611
xref: MESH:D058631
xref: ORDO:763
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:3211 ! lysosomal storage disease

[Term]
id: DOID:0080039
name: axial osteomalacia
alt_id: MIM:109130
def: "An osteosclerosis that results_in coarsening located_in trabecular bone. (DO)" [http://en.wikipedia.org/wiki/Axial_osteomalacia "DO", http://rarediseases.info.nih.gov/GARD/Condition/8431/Axial_osteomalacia.aspx "DO", http://www.ncbi.nlm.nih.gov/omim/109130 "DO"]
synonym: "Atypical osteomalacia involving the axial skeleton" EXACT []
xref: GARD:8431
xref: MESH:C537791
is_a: DOID:10573 ! osteomalacia
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:0080040
name: fibrogenesis imperfecta ossium
def: "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7559718 "DO", PMID:7559718]
synonym: "Baker's disease" EXACT []
is_a: DOID:225 ! syndrome
is_a: DOID:9003519 ! Pathologic Bone Demineralization
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:0080041
name: hypochondroplasia
alt_id: MIM:146000
def: "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. (DO)" [http://en.wikipedia.org/wiki/Hypochondroplasia "DO", http://ghr.nlm.nih.gov/condition/hypochondroplasia "DO", http://www.ncbi.nlm.nih.gov/books/NBK1477/ "DO"]
synonym: "HCH" EXACT []
synonym: "hypochondrodysplasia" EXACT []
xref: GARD:6724
xref: MESH:C562937
xref: NCI:C118697
xref: ORDO:429
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9006496 ! Lordosis
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0080042
name: autosomal recessive spinocerebellar ataxia 18
def: "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24078737 "DO"]
synonym: "SCAR18" EXACT []
xref: MIM:616204
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
created_by: rgd
creation_date: 2017-04-19T00:00:00Z

[Term]
id: DOID:0080043
name: achondrogenesis
def: "An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. (DO)" [http://en.wikipedia.org/wiki/Achondrogenesis "DO", http://www.healthline.com/galecontent/achondrogenesis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001247.htm "DO", http://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf "DO", http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis "DO"]
synonym: "achondrogenesis syndrome" EXACT []
xref: GARD:2882
xref: MESH:C579878
xref: MIM:PS200600
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080044
name: hypochondrogenesis
def: "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. (DO)" [http://en.wikipedia.org/wiki/Hypochondrogenesis "DO", http://ghr.nlm.nih.gov/condition/hypochondrogenesis "DO", http://www.healthline.com/galecontent/hypochondrogenesis "DO"]
xref: MESH:C563007
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080045
name: Kniest dysplasia
alt_id: MIM:156550
def: "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. (DO)" [http://ghr.nlm.nih.gov/condition/kniest-dysplasia "DO", http://www.ksginfo.org/kniest.html "DO"]
synonym: "Kniest Chondrodystrophy" EXACT []
synonym: "Kniest Syndrome" EXACT []
synonym: "Swiss Cheese Cartilage Dysplasia" EXACT []
xref: GARD:6841
xref: MESH:C537207
xref: NCI:C125594
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:674 ! cleft palate
is_a: DOID:854 ! collagen disease
is_a: DOID:9000613 ! Hyaline Membrane Disease
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0080046
name: Stickler syndrome
def: "A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. (DO)" [https://en.wikipedia.org/wiki/Stickler_syndrome "DO", https://ghr.nlm.nih.gov/condition/stickler-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1302/ "DO"]
synonym: "AUTOSOMAL RECESSIVE STICKLER SYNDROME" NARROW []
synonym: "Stickler syndrome, dominant" NARROW []
xref: GARD:10782
xref: MIM:PS108300
xref: NCI:C74984
xref: ORDO:828
is_a: DOID:225 ! syndrome
is_a: DOID:65 ! connective tissue disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0080047
name: pseudoachondroplasia
alt_id: MIM:177170
def: "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. (DO)" [http://en.wikipedia.org/wiki/Pseudoachondroplasia "DO", http://ghr.nlm.nih.gov/condition/pseudoachondroplasia "DO", http://www.healthline.com/galecontent/pseudoachondroplasia "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0 "DO", http://www.wheelessonline.com/ortho/pseudoachondroplasia "DO"]
synonym: "PSACH" EXACT []
synonym: "pseudoachondroplastic dysplasia" EXACT []
synonym: "pseudoachondroplastic spondyloepiphyseal dysplasia" EXACT []
synonym: "pseudoachondroplastic spondyloepiphyseal dysplasia syndrome" EXACT []
xref: GARD:4540
xref: MESH:C535819
xref: NCI:C118635
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:4480 ! achondroplasia

[Term]
id: DOID:0080049
name: acromesomelic dysplasia
def: "An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism. (DO)" [http://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia "DO", https://rarediseases.org/rare-diseases/acromesomelic-dysplasia/ "DO"]
synonym: "acromesomelic dwarfism" EXACT []
xref: GARD:6
xref: MESH:C535658
xref: MIM:PS602875
xref: ORDO:93437
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0080050
name: acromesomelic dysplasia, Maroteaux type
alt_id: MIM:602875
def: "An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments. (DO)" [http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf "DO", https://en.wikipedia.org/wiki/Acromesomelic_dysplasia "DO"]
synonym: "acromesomelic dwarfism Maroteux type" EXACT []
synonym: "acromesomelic dysplasia 1" EXACT []
synonym: "acromesomelic dysplasia 1, Maroteaux type" EXACT []
synonym: "AMD1" EXACT []
synonym: "AMDM" EXACT []
synonym: "St. Helena dysplasia" EXACT []
xref: GARD:507
xref: MESH:C535661
xref: ORDO:40
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060564 ! spinal disease
is_a: DOID:0080049 ! acromesomelic dysplasia

[Term]
id: DOID:0080051
name: acromesomelic dysplasia, Hunter-Thompson type
def: "An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. (DO)" [http://www.orpha.net/data/patho/GB/uk-hunter05.pdf "DO", https://en.wikipedia.org/wiki/Acromesomelic_dysplasia "DO"]
synonym: "acromesomelic dysplasia 2C" EXACT []
synonym: "acromesomelic dysplasia 2C, Hunter-Thompson type" EXACT []
synonym: "AMD2C" EXACT []
synonym: "AMDH" EXACT []
xref: GARD:506
xref: MIM:201250
xref: ORDO:968
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080049 ! acromesomelic dysplasia

[Term]
id: DOID:0080052
name: acromesomelic dysplasia, Grebe type
alt_id: MIM:200700
def: "An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. (DO)" [http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf "DO", https://en.wikipedia.org/wiki/Acromesomelic_dysplasia "DO"]
synonym: "achondrogenesis type II, formerly" RELATED []
synonym: "acromesomelic dysplasia 2A" EXACT []
synonym: "AMD2A" EXACT []
synonym: "AMDG" EXACT []
synonym: "Brazilian achondrogenesis" EXACT []
synonym: "chondrodysplasia, Grebe type" EXACT []
synonym: "Grebe chondrodysplasia" EXACT []
synonym: "Grebe dysplasia" EXACT []
synonym: "Grebe syndrome" EXACT []
xref: GARD:1300
xref: MESH:C537915
xref: ORDO:2098
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080049 ! acromesomelic dysplasia
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:0080053
name: Albright's hereditary osteodystrophy
def: "An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face. (DO)" [http://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy "DO", http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5770 "DO", http://www.orpha.net/data/patho/Pro/en/Albright-FRenPro1314.pdf "DO"]
synonym: "Albright hereditary osteodystrophy" EXACT []
synonym: "Albright hereditary osteodystrophy with multiple hormone resistance" EXACT []
synonym: "PHP1A" EXACT []
synonym: "PHP IA" EXACT []
synonym: "pseudohypoparathyroidism type 1A" EXACT []
synonym: "pseudohypoparathyroidism, type IA" EXACT []
synonym: "PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS" NARROW []
xref: GARD:5770
xref: MIM:103580
xref: NCI:C118434
is_a: DOID:4184 ! pseudohypoparathyroidism

[Term]
id: DOID:0080054
name: achondrogenesis type IA
alt_id: MIM:200600
def: "An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. (DO)" [http://en.wikipedia.org/wiki/Achondrogenesis_type_1A "DO"]
synonym: "ACG1A" EXACT []
synonym: "Achondrogenesis, Houston-Harris type" EXACT []
synonym: "achondrogenesis type 1A" EXACT []
synonym: "Houston-Harris achondrogenesis" EXACT []
synonym: "TRIP11-related condition" BROAD []
xref: GARD:459
xref: MESH:C536015
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060564 ! spinal disease
is_a: DOID:0080043 ! achondrogenesis
is_a: DOID:4480 ! achondroplasia

[Term]
id: DOID:0080055
name: achondrogenesis type IB
alt_id: MIM:600972
alt_id: RDO:0001426
def: "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. (DO)" [http://en.wikipedia.org/wiki/Achondrogenesis_type_1B "DO", http://ghr.nlm.nih.gov/condition/achondrogenesis "DO", http://www.healthline.com/galecontent/achondrogenesis "DO", http://www.ncbi.nlm.nih.gov/books/NBK1516/ "DO"]
synonym: "ACG1B" EXACT []
synonym: "achondrogenesis, Fraccaro type" EXACT []
synonym: "achondrogenesis type 1B" EXACT []
synonym: "Fraccaro achondrogenesis" EXACT []
xref: GARD:460
xref: MESH:C536016
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080043 ! achondrogenesis
is_a: DOID:4480 ! achondroplasia

[Term]
id: DOID:0080056
name: achondrogenesis type II
alt_id: MIM:200610
def: "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. (DO)" [http://en.wikipedia.org/wiki/Achondrogenesis_type_2 "DO", http://ghr.nlm.nih.gov/condition/achondrogenesis "DO", http://www.healthline.com/galecontent/achondrogenesis "DO"]
synonym: "ACG2" EXACT []
synonym: "achondrogenesis, Langer-Saldino type" EXACT []
synonym: "achondrogenesis type 2" EXACT []
synonym: "achondrogenesis type 2 or hypochondrogenesis" EXACT []
synonym: "achondrogenesis type IB (formerly)" RELATED []
synonym: "chondrogenesis imperfecta" EXACT []
synonym: "Langer-Saldino achondrogenesis" EXACT []
xref: GARD:8713
xref: MESH:C536017
xref: NCI:C3816
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080043 ! achondrogenesis
is_a: DOID:4480 ! achondroplasia

[Term]
id: DOID:0080057
name: autosomal recessive spinocerebellar ataxia 15
def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20826435 "DO"]
synonym: "Salih ataxia" EXACT []
synonym: "SCAR15" EXACT []
xref: MIM:615705
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0080058
name: autosomal recessive spinocerebellar ataxia 14
alt_id: OMIA:002092
def: "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23236289 "DO"]
synonym: "autosomal recessive cerebellar ataxia, spectrin-associated, 1" EXACT []
synonym: "SCAR14" EXACT []
synonym: "SPARCA1" EXACT []
synonym: "spinocerebellar ataxia, SPTBN2-related" EXACT []
synonym: "SPTBN2-RELATED CONDITION" BROAD []
xref: MIM:615386
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0080059
name: autosomal recessive spinocerebellar ataxia 7
alt_id: MIM:609270
def: "An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. (DO)" [https://ghr.nlm.nih.gov/gene/TPP1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26224725 "DO"]
synonym: "childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" EXACT []
synonym: "SCAR7" EXACT []
synonym: "TPP1-RELATED CONDITION" BROAD []
xref: GARD:12232
xref: MESH:C563753
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0080060
name: autosomal recessive spinocerebellar ataxia 12
def: "An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24369382 "DO"]
synonym: "SCAR12" EXACT []
synonym: "spinocerebellar ataxia with mental retardation and epilepsy" EXACT []
xref: MIM:614322
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:0080061
name: autosomal recessive spinocerebellar ataxia 2
alt_id: MIM:213200
def: "An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. (DO)" [https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia "DO", https://www.omim.org/entry/606002 "DO"]
synonym: "Cerebellar Hypoplasia, Nonprogressive Norman Type" EXACT []
synonym: "Cerebelloparenchymal Disorder III" EXACT []
synonym: "congenital cerebellar granular cell hypoplasia and mental retardation" EXACT []
synonym: "CPD3" EXACT []
synonym: "CPD III" EXACT []
synonym: "SCAR2" EXACT []
xref: MESH:C565865
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
is_a: DOID:9277 ! primary cerebellar degeneration

[Term]
id: DOID:0080062
name: autosomal recessive spinocerebellar ataxia 13
def: "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22901947 "DO"]
synonym: "GRM1-RELATED CONDITION" BROAD []
synonym: "SCAR13" EXACT []
xref: MIM:614831
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0080063
name: autosomal recessive spinocerebellar ataxia 11
def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21835308 "DO"]
synonym: "SCAR11" EXACT []
xref: MIM:614229
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0080064
name: autosomal recessive spinocerebellar ataxia 17
def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26197978 "DO"]
synonym: "SCAR17" EXACT []
xref: MIM:616127
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0080065
name: autosomal recessive spinocerebellar ataxia 19
def: "An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25205112 "DO"]
synonym: "Lichtenstein-Knorr syndrome" EXACT []
synonym: "LIKNS" EXACT []
synonym: "SCAR19" EXACT []
xref: MIM:616291
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9277 ! primary cerebellar degeneration

[Term]
id: DOID:0080066
name: autosomal recessive spinocerebellar ataxia 20
def: "An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25439728 "DO"]
synonym: "Cerebellar cortical degeneration" NARROW []
synonym: "SCAR20" EXACT []
synonym: "SNX14-RELATED CONDITION" EXACT []
xref: MIM:616354
xref: MONDO:0014601
xref: OMIA:002034
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
created_by: rgd
creation_date: 2017-03-14T00:00:00Z

[Term]
id: DOID:0080067
name: Charcot-Marie-Tooth disease type 5
def: "A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. (DO)" [https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications "DO", https://www.ncbi.nlm.nih.gov/pubmed/12601114 "DO"]
synonym: "hereditary motor and sensory neuropathy with pyramidal features" EXACT []
xref: MIM:600361
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10595 ! Charcot-Marie-Tooth disease

[Term]
id: DOID:0080068
name: Charcot-Marie-Tooth disease type 6
def: "A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. (DO)" [https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications "DO", https://www.ncbi.nlm.nih.gov/pubmed/26168012 "DO"]
synonym: "Charcot-Marie-Tooth disease 6" EXACT []
synonym: "CMT6" EXACT []
synonym: "hereditary motor and sensory neuropathy type 6" EXACT []
synonym: "hereditary motor and sensory neuropathy, type VI" EXACT []
synonym: "hereditary motor and sensory neuropathy VI" EXACT []
synonym: "HMSN6" EXACT []
synonym: "HMSN VI" EXACT []
synonym: "peripheral neuropathy and optic atrophy" EXACT []
xref: MESH:C562851
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0080069
name: Charcot-Marie-Tooth disease type 7
def: "A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25491489 "DO"]
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0080070
name: mucolipidosis II alpha/beta
alt_id: MIM:252500
def: "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene. (DO)" [https://en.wikipedia.org/wiki/I-cell_disease "DO", https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta "DO", https://pubmed.ncbi.nlm.nih.gov/16116615/ "DO", https://rarediseases.org/rare-diseases/i-cell-disease/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1828/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336676/ "DO"]
synonym: "GNPTAB-RELATED DISORDER" BROAD []
synonym: "ICD" EXACT []
synonym: "I-cell disease" EXACT []
synonym: "I-cell diseases" EXACT []
synonym: "inclusion-cell disease" EXACT []
synonym: "inclusion cell diseases" EXACT []
synonym: "mcolipidosis II alpha/beta" EXACT []
synonym: "ML II" EXACT []
synonym: "ML II alpha/beta" EXACT []
synonym: "mucolipidosis 2" EXACT []
synonym: "mucolipidosis II" EXACT []
synonym: "mucolipidosis type II" EXACT []
synonym: "type II mucolipidoses" EXACT []
xref: GARD:6749
xref: MESH:C538602
xref: MESH:C567100
xref: NCI:C61270
is_a: DOID:0080488 ! mucolipidosis
is_a: DOID:3343 ! glycoproteinosis
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0080071
name: mucolipidosis III alpha/beta
def: "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. (DO)" [https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta "DO"]
synonym: "atypical pseudo-Hurler polydystrophy mucolipidosis III alpha/beta" NARROW []
synonym: "GNPTAB-RELATED DISORDER" BROAD []
synonym: "ML III" EXACT []
synonym: "ML IIIA" EXACT []
synonym: "ML III alpha/beta" EXACT []
synonym: "mucolipidosis III" EXACT []
synonym: "MUCOLIPIDOSIS IIIA" EXACT []
synonym: "Mucolipidosis type 3 A" EXACT []
synonym: "mucolipidosis type III alpha/beta" EXACT []
synonym: "pseudo-Hurler polydystrophy" EXACT []
xref: MESH:C537367
xref: MIM:252600
xref: ORDO:577
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080488 ! mucolipidosis
is_a: DOID:3343 ! glycoproteinosis

[Term]
id: DOID:0080072
name: intestinal pseudo-obstruction
alt_id: DOID:3878
alt_id: MESH:C537394
def: "A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract. (DO)" [https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction "DO", https://pubmed.ncbi.nlm.nih.gov/31848803/ "DO"]
synonym: "chronic idiopathic intestinal pseudo-obstruction" EXACT []
synonym: "Chronic intestinal pseudoobstruction" EXACT []
synonym: "chronic intestinal pseudo-obstruction" EXACT []
synonym: "deficiency of argyrophil myenteric plexus" EXACT []
synonym: "enteric neuropathy" EXACT []
synonym: "familial visceral neuropathy, autosomal recessive" EXACT []
synonym: "Idiopathic Intestinal Pseudo-Obstruction" EXACT []
synonym: "idiopathic intestinal pseudo-obstructions" EXACT []
synonym: "Intestinal Pseudoobstruction" EXACT []
synonym: "Intestinal pseudoobstruction due to neuronal disease" EXACT []
synonym: "Intestinal Pseudoobstructions" EXACT []
synonym: "intestinal pseudo-obstructions" EXACT []
synonym: "intestine pseudoobstruction" EXACT []
synonym: "neuronal intestinal dysplasia" EXACT []
synonym: "Neuronal Intestinal Pseudoobstruction" EXACT []
synonym: "pseudointestinal obstruction syndrome" EXACT []
synonym: "pseudoobstruction, chronic idiopathic intestinal, neuronal type" EXACT []
synonym: "pseudo-obstruction of intestine" EXACT []
synonym: "pseudoobstructive syndrome" EXACT []
synonym: "visceral myopathies" EXACT []
synonym: "visceral myopathy" EXACT []
xref: EFO:1000988
xref: GARD:12744
xref: GARD:6789
xref: MESH:D007418
xref: NCI:C192634
xref: NCI:C34733
xref: ORDO:2978
is_a: DOID:5353 ! colonic disease
is_a: DOID:8440 ! ileus
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:0080073
name: spina bifida occulta
def: "A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed. (DO)" [https://en.wikipedia.org/wiki/Spina_bifida#Spina_bifida_occulta "DO"]
synonym: "closed spinal bifida" EXACT []
synonym: "dermal sinus" EXACT []
synonym: "occult spina bifida" EXACT []
xref: MESH:D016136
is_a: DOID:0080016 ! spina bifida

[Term]
id: DOID:0080074
name: neural tube defect
alt_id: MIM:182940
alt_id: MIM:222500
def: "A physical disorder characterized by incomplete closure of the neural tube. (DO)" [https://en.wikipedia.org/wiki/Neural_tube_defect "DO", https://www.ncbi.nlm.nih.gov/books/NBK555903/ "DO"]
synonym: "Acrania" EXACT []
synonym: "acranias" EXACT []
synonym: "craniorachischises" EXACT []
synonym: "Craniorachischisis" EXACT []
synonym: "developmental neural tube defects" EXACT []
synonym: "Diastematomyelia" EXACT []
synonym: "Diastematomyelias" EXACT []
synonym: "Exencephalies" EXACT []
synonym: "Exencephaly" EXACT []
synonym: "Iniencephalies" EXACT []
synonym: "Iniencephaly" EXACT []
synonym: "neural tube defects" EXACT []
synonym: "NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO" EXACT []
synonym: "Neurenteric Cyst" EXACT []
synonym: "Neurenteric Cysts" EXACT []
synonym: "Neuroenteric Cyst" EXACT []
synonym: "Neuroenteric Cysts" EXACT []
synonym: "NTD" EXACT []
synonym: "SPINA BIFIDA" NARROW []
synonym: "Spinal Cord Myelodysplasia" EXACT []
synonym: "spinal cord myelodysplasias" EXACT []
xref: GARD:4016
xref: MESH:D009436
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9006534 ! Nervous System Malformations

[Term]
id: DOID:0080075
name: Neu-Laxova syndrome 2
alt_id: RDO:9003580
def: "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine. (DO)" [https://www.omim.org/entry/616038 "DO"]
synonym: "PSAT1-RELATED DISORDER" BROAD []
xref: MIM:616038
is_a: DOID:0050721 ! serine deficiency
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:0080076
name: Neu-Laxova syndrome 1
alt_id: MIM:256520
def: "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine. (DO)" [https://www.omim.org/entry/256520 "DO"]
synonym: "NLS" EXACT []
synonym: "NLS1" NARROW []
xref: MESH:C536405
xref: RDO:0001986
is_a: DOID:0050721 ! serine deficiency
is_a: DOID:10907 ! microcephaly
is_a: DOID:1697 ! ichthyosis
is_a: DOID:9002231 ! Fetal Growth Retardation
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0080077
name: hypophosphatemic nephrolithiasis/osteoporosis 1
alt_id: MIM:612286
def: "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12324554 "DO"]
synonym: "NPHLOP1" EXACT []
xref: MESH:C567363
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080655 ! hypophosphatemic nephrolithiasis/osteoporosis

[Term]
id: DOID:0080078
name: hypophosphatemic nephrolithiasis/osteoporosis 2
alt_id: MIM:612287
def: "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31364377/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/18784102 "DO", https://www.nejm.org/doi/full/10.1056/NEJMoa020028 "DO"]
synonym: "NPHLOP2" EXACT []
xref: MESH:C567362
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080655 ! hypophosphatemic nephrolithiasis/osteoporosis
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:0080079
name: nonsyndromic congenital nail disorder 1
alt_id: DOID:0080088
alt_id: MIM:161050
def: "A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"]
synonym: "claw-shaped nails" EXACT []
synonym: "ISOLATED NAIL ANOMALY" EXACT []
synonym: "isolated onychodystrophy totalis" EXACT []
synonym: "NDNC10" EXACT []
synonym: "nonsyndromic congenital nail disorder 10" EXACT []
synonym: "twenty-nail dystrophy" EXACT []
xref: MESH:C562907
xref: ORDO:280654
xref: ORDO:79153
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080683 ! nonsyndromic congenital nail disorder

[Term]
id: DOID:0080080
name: nonsyndromic congenital nail disorder 2
def: "A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"]
synonym: "KOILONYCHIA, HEREDITARY" EXACT []
synonym: "NDNC2" EXACT []
synonym: "SPOON NAILS" EXACT []
xref: MIM:149300
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080683 ! nonsyndromic congenital nail disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0080081
name: nonsyndromic congenital nail disorder 3
def: "A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"]
synonym: "LEUKONYCHIA PUNCTATA" NARROW []
synonym: "LEUKONYCHIA TOTALIS AND/OR PARTIALIS" EXACT []
synonym: "NDNC3" EXACT []
synonym: "PORCELAIN NAILS  LEUKONYCHIA STRIATUS" NARROW []
xref: MIM:151600
xref: MONDO:0007900
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080683 ! nonsyndromic congenital nail disorder
is_a: DOID:9008749 ! Leukonychia Totalis

[Term]
id: DOID:0080082
name: nonsyndromic congenital nail disorder 4
alt_id: DOID:0050643
alt_id: MIM:206800
def: "A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. (DO)" [https://ghr.nlm.nih.gov/condition/anonychia-congenita "DO", https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"]
synonym: "Anonychia" EXACT []
synonym: "ANONYCHIA/HYPONYCHIA CONGENITA" EXACT []
synonym: "anonychia congenita" EXACT []
synonym: "ANONYCHIA TOTALIS" EXACT []
synonym: "Hyponychia congenita" EXACT []
synonym: "NDNC4" EXACT []
xref: GARD:12930
xref: MESH:C536377
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080683 ! nonsyndromic congenital nail disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0080083
name: nonsyndromic congenital nail disorder 5
alt_id: MIM:164800
def: "A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"]
synonym: "hereditary distal onycholysis" EXACT []
synonym: "NDNC5" EXACT []
synonym: "Partial Onycholysis with Scleronychia" EXACT []
xref: MESH:C563503
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080683 ! nonsyndromic congenital nail disorder
is_a: DOID:9000584 ! Onycholysis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0080084
name: nonsyndromic congenital nail disorder 6
def: "A nonsyndromic congenital nail disorder that is characterized by partial absences of nails. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"]
synonym: "ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY" EXACT []
synonym: "ANONYCHIA, PARTIAL" EXACT []
synonym: "NDNC6" EXACT []
xref: MIM:107000
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080683 ! nonsyndromic congenital nail disorder
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:0080085
name: nonsyndromic congenital nail disorder 7
alt_id: MIM:605779
def: "A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"]
synonym: "Nail Dysplasia, Isolated Congenital" EXACT []
synonym: "NDNC7" EXACT []
synonym: "Onychodysplasia, Isolated Congenital" EXACT []
xref: MESH:C538333
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080683 ! nonsyndromic congenital nail disorder

[Term]
id: DOID:0080086
name: nonsyndromic congenital nail disorder 8
def: "A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"]
synonym: "isolated toenail dystrophy" EXACT []
synonym: "NDNC8" EXACT []
xref: MESH:C564384
xref: MIM:607523
xref: MONDO:0011852
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080683 ! nonsyndromic congenital nail disorder

[Term]
id: DOID:0080087
name: nonsyndromic congenital nail disorder 9
def: "A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"]
synonym: "ANONYCHIA-ONYCHOLYSIS, ISOLATED" EXACT []
synonym: "NAIL DYSPLASIA" EXACT []
synonym: "NDNC9" EXACT []
synonym: "ONYCHODYSTROPHY" EXACT []
xref: MIM:614149
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080683 ! nonsyndromic congenital nail disorder
is_a: DOID:9000584 ! Onycholysis

[Term]
id: DOID:0080089
name: tubular aggregate myopathy 1
def: "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/ "DO"]
synonym: "autosomal dominant myotubular myopathy" EXACT []
synonym: "TAM1" EXACT []
xref: MIM:160565
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9002092 ! Tubular Aggregate Myopathies
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0080090
name: reducing body myopathy 1A
alt_id: MIM:300717
def: "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17099882/ "DO"]
synonym: "RBMX1A" EXACT []
synonym: "severe X-linked reducing body myopathy 1A with infantile or early childhood onset" EXACT []
synonym: "severe X-linked reducing body myopathy, early-onset" EXACT []
xref: MESH:C567469
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:9002604 ! Reducing Body Myopathies

[Term]
id: DOID:0080092
name: myofibrillar myopathy 1
alt_id: DOID:0110286
alt_id: MESH:C563319
alt_id: MESH:C563784
def: "A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23687351 "DO", https://www.omim.org/entry/601419 "DO"]
synonym: "arrhythmogenic right ventricular cardiomyopathy 7" EXACT []
synonym: "arrhythmogenic right ventricular dysplasia, familial, 7" EXACT []
synonym: "ARVC7" EXACT []
synonym: "ARVD7" EXACT []
synonym: "autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency" EXACT []
synonym: "autosomal recessive limb-girdle muscular dystrophy type 2R" EXACT []
synonym: "CDCD3" RELATED []
synonym: "CMD1F and LGMD1D" RELATED []
synonym: "DESMIN-MYOPATHY" RELATED []
synonym: "DESMIN-MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY" RELATED []
synonym: "desminopathy" EXACT []
synonym: "DESMINOPATHY, PRIMARY" EXACT []
synonym: "DESMIN-related myofibrillar myopathy" EXACT []
synonym: "Desmin-Related Myopathy" EXACT []
synonym: "Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy" EXACT []
synonym: "dilated cardiomyopathy 1F" EXACT []
synonym: "dilated cardiomyopathy 1F and limb-girdle muscular dystrophy type 1D" RELATED []
synonym: "dilated cardiomyopathy with conduction defect and muscular dystrophy" RELATED []
synonym: "DRM" EXACT []
synonym: "IBM1" EXACT []
synonym: "inclusion body myopathy 1, autosomal dominant" EXACT []
synonym: "LGMD2R" RELATED []
synonym: "limb-girdle muscular dystrophy, type 2R" RELATED []
synonym: "MFM1" EXACT []
synonym: "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy" EXACT []
synonym: "PROXIMAL MUSCLE WEAKNESS IN UPPER LIMBS" NARROW []
xref: MIM:601419
xref: ORDO:363543
xref: ORDO:98909
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080307 ! myofibrillar myopathy
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0080093
name: myofibrillar myopathy 2
alt_id: MIM:608810
def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. (DO)" [https://www.omim.org/entry/608810 "DO"]
synonym: "Alpha-B Crystallinopathy" EXACT []
synonym: "desmin-related myopathy, associated with mutation in the CRYAB gene" EXACT []
synonym: "MFM2" EXACT []
synonym: "myofibrillar myopathy, alpha-B crystallin-related" EXACT []
synonym: "myofibrillar myopathy, with or without cataract and/or cardiomyopathy" EXACT []
synonym: "Myopathy, Cardioskeletal, Desmin-Related, with Cataract" EXACT []
xref: MESH:C563848
xref: ORDO:399058
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080307 ! myofibrillar myopathy
is_a: DOID:83 ! cataract

[Term]
id: DOID:0080094
name: myofibrillar myopathy 3
alt_id: DOID:0080091
alt_id: DOID:0110300
def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10958653/ "DO", https://pubmed.ncbi.nlm.nih.gov/16380616/ "DO", https://pubmed.ncbi.nlm.nih.gov/30055862/ "DO", https://www.omim.org/entry/609200 "DO"]
synonym: "autosomal dominant limb-girdle muscular dystrophy type 1A" EXACT []
synonym: "autosomal dominant spheroid body myopathy" EXACT []
synonym: "LGMD1" EXACT []
synonym: "LGMD 1A" EXACT []
synonym: "LGMD1A" EXACT []
synonym: "limb-girdle muscular dystrophy due to myotilin deficiency" EXACT []
synonym: "MFM3" EXACT []
synonym: "muscular dystrophy limb-girdle type 1A" EXACT []
synonym: "muscular dystrophy, limb-girdle, type1A" EXACT []
synonym: "muscular dystrophy, proximal, type 1A" EXACT []
synonym: "myofibrillar myopathy, myotilin-related" EXACT []
synonym: "myotilinopathy" EXACT []
synonym: "spheroid body myopathy" EXACT []
synonym: "URINARY BLADDER SPHINCTER DYSFUNCTION" NARROW []
xref: GARD:10229
xref: GARD:8711
xref: MESH:C000598645
xref: MESH:C535906
xref: MESH:C563775
xref: MIM:609200
xref: MONDO:0012215
xref: ORDO:266
xref: ORDO:268129
is_a: DOID:0080307 ! myofibrillar myopathy
is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy

[Term]
id: DOID:0080095
name: myofibrillar myopathy 4
def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10. (DO)" [https://www.omim.org/entry/609452 "DO"]
synonym: "LDB3-RELATED CONDITION" BROAD []
synonym: "MARKESBERY-GRIGGS DISTAL MYOPATHY" EXACT []
synonym: "MFM4" EXACT []
synonym: "zaspopathy" EXACT []
xref: MIM:609452
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080307 ! myofibrillar myopathy

[Term]
id: DOID:0080096
name: myofibrillar myopathy 5
alt_id: MIM:609524
def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. (DO)" [https://www.omim.org/entry/609524 "DO"]
synonym: "filamin C-related myofibrillar myopathy" EXACT []
synonym: "filaminopathy" EXACT []
synonym: "filaminopathy, autosomal dominant" EXACT []
synonym: "FLNB-related disorders" BROAD []
synonym: "MFM5" EXACT []
synonym: "MFM, filamin C-related" EXACT []
xref: MESH:C537932
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080307 ! myofibrillar myopathy

[Term]
id: DOID:0080097
name: myofibrillar myopathy 6
alt_id: MIM:612954
alt_id: RDO:0009733
alt_id: RDO:0015757
def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO)" [https://www.omim.org/entry/612954 "DO"]
synonym: "BAG3-RELATED CONDITION" BROAD []
synonym: "BAG3-related myofibrillar myopathy" EXACT []
synonym: "MFM6" EXACT []
xref: MESH:C567843
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080307 ! myofibrillar myopathy

[Term]
id: DOID:0080098
name: myofibrillar myopathy 7
def: "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22. (DO)" [https://www.omim.org/entry/617114 "DO"]
synonym: "MFM7" EXACT []
xref: MIM:617114
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080307 ! myofibrillar myopathy
is_a: DOID:9008941 ! Muscle Hypertonia

[Term]
id: DOID:0080099
name: myopathy, lactic acidosis, and sideroblastic anemia
def: "A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253070/ "DO"]
synonym: "HEREDITARY SIDEROBLASTIC ANEMIA WITH MYOPATHY AND LACTIC ACIDOSIS" EXACT []
synonym: "Mitochondrial myopathy and sideroblastic anemia" EXACT []
synonym: "MLASA" EXACT []
xref: MESH:C536101
xref: MIM:PS600462
xref: ORDO:2598
is_a: DOID:699 ! mitochondrial myopathy
is_a: DOID:8955 ! sideroblastic anemia

[Term]
id: DOID:0080101
name: Compton-North congenital myopathy
def: "A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19026398/ "DO"]
synonym: "CMYO12" EXACT []
synonym: "CMYP12" EXACT []
synonym: "congenital myopathy 12" EXACT []
synonym: "MYPCN" EXACT []
xref: MESH:C567261
xref: MIM:612540
xref: MONDO:0012929
xref: ORDO:210163
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:3635 ! congenital myasthenic syndrome

[Term]
id: DOID:0080102
name: congenital myopathy 4A
def: "A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion "DO"]
synonym: "CFTD" EXACT []
synonym: "CMYO4A" EXACT []
synonym: "congenital fiber-type disproportion" EXACT []
synonym: "congenital myopathy 4A, autosomal dominant" EXACT []
synonym: "congenital myopathy with fiber-type disproportion" EXACT []
synonym: "SEPN1-related disorders" EXACT []
synonym: "SEVERE NEONATAL HYPOTONIA IMPROVING WITH AGE" EXACT []
xref: MIM:255310
xref: MONDO:0800341
xref: NCI:C120046
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:0081337 ! congenital myopathy
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:0080103
name: cylindrical spirals myopathy
alt_id: MIM:160990
def: "A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions. (DO)" [https://en.wikipedia.org/wiki/Congenital_myopathy#Cylindrical_spirals_myopathy "DO"]
synonym: "myotonic myopathy with cylindrical spirals" EXACT []
xref: GARD:11906
xref: MESH:C563535
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:450 ! myotonic disease

[Term]
id: DOID:0080105
name: microcephaly and chorioretinopathy 1
alt_id: MIM:251270
def: "A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25344692 "DO"]
synonym: "MCCRP1" EXACT []
synonym: "MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1" EXACT []
synonym: "microcephaly and chorioretinopathy with or without mental retardation" EXACT []
synonym: "Microcephaly and Chorioretinopathy with or without Mental Retardation, Autosomal Recessive" EXACT []
synonym: "microcephaly with chorioretinopathy, autosomal recessive" EXACT []
xref: MESH:C565379
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9005482 ! Microcephaly and Chorioretinopathy

[Term]
id: DOID:0080106
name: microcephaly and chorioretinopathy 2
alt_id: RDO:9001672
def: "A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25344692 "DO"]
synonym: "MCCRP2" EXACT []
synonym: "Microcephaly and Chorioretinopathy, Autosomal Recessive, 2" EXACT []
synonym: "PLK4-RELATED CONDITION" EXACT []
xref: MIM:616171
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9005482 ! Microcephaly and Chorioretinopathy
created_by: rgd
creation_date: 2017-05-08T00:00:00Z

[Term]
id: DOID:0080107
name: microcephaly and chorioretinopathy 3
alt_id: RDO:9000425
def: "A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25344692 "DO"]
synonym: "AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME" EXACT []
synonym: "MCCRP3" EXACT []
synonym: "Microcephaly and Chorioretinopathy, Autosomal Recessive, 3" EXACT []
xref: MIM:616335
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9005482 ! Microcephaly and Chorioretinopathy
created_by: rgd
creation_date: 2015-07-16T00:00:00Z

[Term]
id: DOID:0080108
name: myoglobinuria
alt_id: DOID:9005068
def: "A myopathy that is characterized by an increased urinary excretion of myoglobin. (DO)" [https://books.google.com/books?id=BxWOErb3sEgC&pg=PA477&dq=myoglobinuria&hl=en&sa=X&ved=0CCoQ6AEwAmoVChMIiYqijYmJyQIVCGk-Ch3ROwQk#v=onepage&q=myoglobinuria&f=false "DO", https://www.ncbi.nlm.nih.gov/pubmed/9098484 "DO"]
synonym: "myoglobinurias" EXACT []
xref: MESH:D009212
is_a: DOID:423 ! myopathy
is_a: DOID:9000884 ! Rhabdomyolysis

[Term]
id: DOID:0080109
name: infantile myofibromatosis
def: "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27259011/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23731542 "DO"]
synonym: "CGF" EXACT []
synonym: "congenital generalized fibromatosis" EXACT []
synonym: "juvenile myofibromatosis" EXACT []
synonym: "lipofibromatosis" EXACT []
xref: GARD:2998
xref: MESH:C562978
xref: MIM:PS228550
xref: ORDO:2591
is_a: DOID:0060123 ! connective tissue benign neoplasm
is_a: DOID:9003564 ! Myofibromatosis
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:0080110
name: contractures, pterygia, and spondylocarpotarsal fusion syndrome
alt_id: DOID:9000643
alt_id: MIM:265000
def: "A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. (DO)" [http://rarediseases.org/rare-diseases/pterygium-syndrome-multiple/ "DO", https://en.wikipedia.org/wiki/Multiple_pterygium_syndrome "DO", https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/25957469 "DO"]
synonym: "CHRNG-related disorder" BROAD []
synonym: "Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes" EXACT []
synonym: "Escobar syndrome" EXACT []
synonym: "EVMPS" EXACT []
synonym: "familial pterygium syndrome" EXACT []
synonym: "multiple pterygium syndrome" EXACT []
synonym: "multiple pterygium syndrome, Escobar type" EXACT []
synonym: "multiple pterygium syndrome, Escobar variant" EXACT []
synonym: "multiple pterygium syndrome, nonlethal type" EXACT []
synonym: "pterygium colli syndrome" EXACT []
synonym: "pterygium syndrome" EXACT []
synonym: "pterygium universale" EXACT []
xref: MESH:C537377
xref: MIM:PS178110
is_a: DOID:1934 ! dysostosis
is_a: DOID:225 ! syndrome
is_a: DOID:8545 ! malignant hyperthermia
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0080111
name: mitochondrial complex III deficiency nuclear type 1
alt_id: MIM:124000
def: "A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35. (DO)" [http://omim.org/entry/124000?search=124000&highlight=124000 "DO"]
synonym: "BCS1L-related disorder" BROAD []
synonym: "DECREASED ACTIVITY OF MITOCHONDRIAL COMPLEX III" BROAD []
synonym: "MC3DN1" EXACT []
xref: MESH:C565128
is_a: DOID:0111139 ! mitochondrial complex III deficiency

[Term]
id: DOID:0080112
name: mitochondrial complex III deficiency nuclear type 3
def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22. (DO)" [http://omim.org/entry/615158?search=615158&highlight=615158 "DO"]
synonym: "MC3DN3" EXACT []
xref: MIM:615158
is_a: DOID:0111139 ! mitochondrial complex III deficiency

[Term]
id: DOID:0080113
name: mitochondrial complex III deficiency nuclear type 4
def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31. (DO)" [http://omim.org/entry/615159?search=615159&highlight=615159 "DO"]
synonym: "MC3DN4" EXACT []
xref: MIM:615159
is_a: DOID:0111139 ! mitochondrial complex III deficiency

[Term]
id: DOID:0080114
name: mitochondrial complex III deficiency nuclear type 5
def: "A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12. (DO)" [http://omim.org/entry/615160?search=615160&highlight=615160 "DO"]
synonym: "MC3DN5" EXACT []
xref: MIM:615160
is_a: DOID:0111139 ! mitochondrial complex III deficiency

[Term]
id: DOID:0080115
name: mitochondrial complex III deficiency nuclear type 6
def: "A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24. (DO)" [http://omim.org/entry/615453?search=615453&highlight=615453 "DO"]
synonym: "MC3DN6" EXACT []
xref: MIM:615453
is_a: DOID:0111139 ! mitochondrial complex III deficiency

[Term]
id: DOID:0080116
name: mitochondrial complex III deficiency nuclear type 7
def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21. (DO)" [http://omim.org/entry/615824?search=615824&highlight=615824 "DO"]
synonym: "MC3DN7" EXACT []
xref: MIM:615824
is_a: DOID:0111139 ! mitochondrial complex III deficiency
created_by: rgd
creation_date: 2017-05-10T00:00:00Z

[Term]
id: DOID:0080117
name: mitochondrial complex III deficiency nuclear type 8
def: "A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23. (DO)" [http://omim.org/entry/615838?search=615838&highlight=615838 "DO"]
synonym: "MC3DN8" EXACT []
xref: MIM:615838
is_a: DOID:0111139 ! mitochondrial complex III deficiency

[Term]
id: DOID:0080118
name: mitochondrial complex III deficiency nuclear type 9
def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12. (DO)" [http://omim.org/entry/616111?search=616111&highlight=616111 "DO"]
synonym: "MC3DN9" EXACT []
xref: MIM:616111
is_a: DOID:0111139 ! mitochondrial complex III deficiency
created_by: rgd
creation_date: 2017-05-10T00:00:00Z

[Term]
id: DOID:0080119
name: mitochondrial DNA depletion syndrome 1
def: "A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome "DO", https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/19056268 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301358 "DO", https://www.omim.org/entry/603041 "DO"]
synonym: "mitochondrial DNA depletion syndrome 1 (MNGIE type)" EXACT []
synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related" EXACT []
synonym: "MNGIE, TYMP-related" EXACT []
synonym: "MTDPS1" EXACT []
synonym: "TYMP-RELATED CONDITION" EXACT []
xref: GARD:9920
xref: MIM:603041
xref: NCI:C11967
xref: ORDO:298
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type

[Term]
id: DOID:0080120
name: mitochondrial DNA depletion syndrome 2
def: "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21. (DO)" [https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form "DO", https://www.ncbi.nlm.nih.gov/pubmed/2881246 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29735374 "DO", https://www.omim.org/entry/609560 "DO"]
synonym: "mitochondrial DNA depletion myopathy, TK2-related" EXACT []
synonym: "mitochondrial DNA depletion syndrome 2 (myopathic type)" EXACT []
synonym: "MTDPS2" EXACT []
synonym: "TK2-related mitochondrial DNA depletion syndrome, myopathic form" EXACT []
xref: MIM:609560
xref: NCI:C185236
xref: ORDO:254875
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9002774 ! Mitochondrial DNA Depletion Syndrome, Myopathic Form

[Term]
id: DOID:0080121
name: mitochondrial DNA depletion syndrome 3
def: "A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. (DO)" [https://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/24423689 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30589726 "DO", https://www.omim.org/entry/251880 "DO"]
synonym: "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" EXACT []
synonym: "mitochondrial DNA depletion syndrome 3, hepatocerebral" EXACT []
synonym: "MTDPS3" EXACT []
xref: GARD:13644
xref: MIM:251880
xref: ORDO:279934
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:13413 ! hepatic encephalopathy

[Term]
id: DOID:0080122
name: Alpers-Huttenlocher syndrome
alt_id: DOID:1442
alt_id: MIM:203700
def: "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/30103161 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30451971 "DO", https://www.omim.org/entry/203700 "DO"]
synonym: "Alper's disease" EXACT []
synonym: "Alper's syndrome" EXACT []
synonym: "Alper disease" EXACT []
synonym: "Alpers' disease or gray-matter degeneration" EXACT []
synonym: "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis" EXACT []
synonym: "Alpers disease" EXACT []
synonym: "Alpers progressive infantile poliodystrophy" EXACT []
synonym: "Alpers syndrome" EXACT []
synonym: "Alper syndrome" EXACT []
synonym: "diffuse cerebral scleroses" EXACT []
synonym: "Diffuse Cerebral Sclerosis" EXACT []
synonym: "Diffuse Cerebral Sclerosis of Schilder" EXACT []
synonym: "Encephalitis Periaxialis" EXACT []
synonym: "Encephalitis Periaxialis Concentrica" EXACT []
synonym: "Encephalitis Periaxialis Diffusa" EXACT []
synonym: "mitochondrial DNA depletion syndrome 4A" EXACT []
synonym: "mitochondrial DNA depletion syndrome 4A (Alpers type)" EXACT []
synonym: "MTDPS4A" EXACT []
synonym: "Myelinoclastic Diffuse Scleroses" EXACT []
synonym: "myelinoclastic diffuse sclerosis" EXACT []
synonym: "PNDC" EXACT []
synonym: "poliodystrophia cerebri" EXACT []
synonym: "progressive neuronal degeneration of childhood with liver disease" EXACT []
synonym: "progressive sclerosing poliodystrophies" EXACT []
synonym: "progressive sclerosing poliodystrophy" EXACT []
synonym: "Schilder's disease" EXACT []
synonym: "Schilder disease" EXACT []
synonym: "Schilders disease" EXACT []
synonym: "sudanophilic cerebral sclerosis" EXACT []
xref: GARD:5783
xref: ICD10CM:G31.81
xref: MESH:D002549
xref: NCI:C35257
xref: ORDO:726
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:1443 ! cerebral degeneration
is_a: DOID:5082 ! liver cirrhosis
is_a: DOID:890 ! mitochondrial encephalomyopathy
is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0080123
name: mitochondrial DNA depletion syndrome 4B
def: "A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/30385167 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30395865 "DO", https://www.omim.org/entry/613662 "DO"]
synonym: "mitochondrial DNA depletion syndrome 4B (MNGIE type)" EXACT []
synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, POLG-related" EXACT []
synonym: "MNGIE, POLG-related" EXACT []
synonym: "MTDPS4B" EXACT []
xref: MIM:613662
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type

[Term]
id: DOID:0080124
name: mitochondrial DNA depletion syndrome 5
alt_id: MIM:612073
def: "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/24986829 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26952923 "DO", https://www.omim.org/entry/612073 "DO"]
synonym: "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)" EXACT []
synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria, autosomal recessive" EXACT []
synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, SUCLA2-related" EXACT []
synonym: "MTDPS5" EXACT []
xref: MESH:C567624
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:890 ! mitochondrial encephalomyopathy
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0080125
name: mitochondrial DNA depletion syndrome 6
alt_id: MIM:256810
def: "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/29282788 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30298599 "DO", https://www.omim.org/entry/256810 "DO"]
synonym: "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)" EXACT []
synonym: "MPV17-associated hepatocerebral MDS" EXACT []
synonym: "MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome" EXACT []
synonym: "MPV17-RELATED MITOCHONDRIAL DNA MAINTENANCE DEFECT" EXACT []
synonym: "MTDPS6" EXACT []
synonym: "Navajo Familial Neurogenic Arthropathy" EXACT []
synonym: "Navajo neurohepatopathy" EXACT []
synonym: "NAVAJO NEUROPATHY" NARROW []
synonym: "NN" NARROW []
synonym: "NNH" EXACT []
xref: GARD:3972
xref: MESH:C538344
xref: ORDO:255229
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:409 ! liver disease
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:0080126
name: mitochondrial DNA depletion syndrome 7
alt_id: DOID:0050556
alt_id: MIM:271245
alt_id: RDO:0000683
alt_id: RDO:0008489
alt_id: RDO:9004561
def: "A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24. (DO)" [https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia "DO", https://www.ncbi.nlm.nih.gov/pubmed/18775955 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30391088 "DO"]
synonym: "infantile onset spinocerebellar ataxia" EXACT []
synonym: "IOSCA" EXACT []
synonym: "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)" EXACT []
synonym: "MITOCHONDRIAL HEPATOPATHY" EXACT []
synonym: "MTDPS7" EXACT []
synonym: "OHAHA syndrome" EXACT []
synonym: "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis" EXACT []
synonym: "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis" EXACT []
synonym: "SCA8 (formerly)" RELATED []
synonym: "spinocerebellar ataxia 8 (formerly)" RELATED []
synonym: "spinocerebellar ataxia infantile with sensory neuropathy" EXACT []
xref: GARD:4062
xref: MESH:C535523
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
is_a: DOID:9003453 ! Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive

[Term]
id: DOID:0080127
name: mitochondrial DNA depletion syndrome 8A
alt_id: MIM:612075
def: "A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/24741716 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30439532 "DO", https://www.omim.org/entry/612075 "DO"]
synonym: "encephalomyopathic mitochondrial DNA depletion syndrome with renal tubulopathy, autosomal recessive" NARROW []
synonym: "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)" EXACT []
synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy, autosomal recessive" EXACT []
synonym: "mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction" EXACT []
synonym: "Mitochondrial Neurogastrointestinal Encephalopathy Disease" EXACT []
synonym: "Mitochondrial Neurogastrointestinal Encephalopathy Syndrome" EXACT []
synonym: "mitochondrial neurogastrointestinal syndrome" NARROW []
synonym: "MNGIE Disease" EXACT []
synonym: "MNGIE, RRM2B-related" NARROW []
synonym: "MNGIE without leukoencephalopathy" EXACT []
synonym: "MTDPS8A" EXACT []
synonym: "oculogastrointestinal muscular dystrophy" EXACT []
synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction" EXACT []
synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction" EXACT []
synonym: "RRM2B-related mitochondrial disease" BROAD []
synonym: "RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" EXACT []
synonym: "thymidine phosphorylase deficiency" EXACT []
xref: GARD:13200
xref: MESH:C537477
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080072 ! intestinal pseudo-obstruction
is_a: DOID:225 ! syndrome
is_a: DOID:890 ! mitochondrial encephalomyopathy
is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type

[Term]
id: DOID:0080128
name: mitochondrial DNA depletion syndrome 9
def: "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29217198 "DO", https://www.omim.org/entry/245400 "DO"]
synonym: "fatal infantile lactic acidosis" EXACT []
synonym: "Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic Type with Methylmalonic Aciduria)" EXACT []
synonym: "mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)" EXACT []
synonym: "MTDPS9" EXACT []
xref: MESH:C566885
xref: MIM:245400
xref: MONDO:0009504
xref: NCI:C183531
xref: ORDO:17
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:3650 ! lactic acidosis
is_a: DOID:9007007 ! Succinate-Coa Ligase Deficiency

[Term]
id: DOID:0080129
name: mitochondrial DNA depletion syndrome 11
alt_id: RDO:9000571
def: "A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23313956 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO", https://www.omim.org/entry/615084 "DO"]
synonym: "MTDPS11" EXACT []
synonym: "progressive external ophthalmoplegia-myopathy-emaciation syndrome" EXACT []
xref: MIM:615084
xref: ORDO:352447
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:699 ! mitochondrial myopathy

[Term]
id: DOID:0080130
name: mitochondrial DNA depletion syndrome 12a
alt_id: RDO:9000942
alt_id: RDO:9001714
def: "A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27693233 "DO", https://www.omim.org/entry/617184 "DO"]
synonym: "autosomal dominant mitochondrial DNA depletion syndrome-12A" EXACT []
synonym: "mitochondrial DNA depletion syndrome 12" BROAD []
synonym: "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)" EXACT []
synonym: "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD" EXACT []
synonym: "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant" EXACT []
synonym: "MTDPS12" BROAD []
synonym: "MTDPS12A" EXACT []
xref: MIM:617184
xref: NCI:C129977
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:699 ! mitochondrial myopathy

[Term]
id: DOID:0080131
name: mitochondrial DNA depletion syndrome 13
alt_id: RDO:9000956
def: "A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16. (DO)" [https://ghr.nlm.nih.gov/condition/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/26404457 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28940506 "DO", https://www.omim.org/entry/615471 "DO"]
synonym: "FBXL4 deficiency" EXACT []
synonym: "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome" EXACT []
synonym: "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" EXACT []
synonym: "MTDPS13" EXACT []
xref: GARD:13298
xref: MIM:615471
xref: NCI:C172095
xref: ORDO:369897
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:890 ! mitochondrial encephalomyopathy

[Term]
id: DOID:0080132
name: Sengers syndrome
alt_id: MIM:212350
alt_id: RDO:0004242
def: "A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34. (DO)" [https://en.wikipedia.org/wiki/Sengers_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/28712724 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29682452 "DO", https://www.omim.org/entry/212350 "DO"]
synonym: "AGK-related disorder" NARROW []
synonym: "AGK-related disorders" NARROW []
synonym: "cataract and cardiomyopathy" EXACT []
synonym: "mitochondrial DNA depletion syndrome 10" EXACT []
synonym: "mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)" EXACT []
synonym: "MTDPS10" EXACT []
xref: GARD:1142
xref: MESH:C538280
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:83 ! cataract

[Term]
id: DOID:0080133
name: multiple mitochondrial dysfunctions syndrome 1
def: "A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/22077971 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28470589 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29441221 "DO", https://www.omim.org/entry/605711 "DO"]
synonym: "MMDS1" EXACT []
synonym: "NFU1 deficiency" EXACT []
synonym: "NFU1-RELATED CONDITION" EXACT []
xref: MIM:605711
xref: MONDO:0011582
xref: ORDO:401869
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome

[Term]
id: DOID:0080134
name: multiple mitochondrial dysfunctions syndrome 2
def: "A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/22562699 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24334290 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29654549 "DO", https://www.omim.org/entry/614299 "DO"]
synonym: "BOLA3 deficiency" EXACT []
synonym: "MMDS2" EXACT []
synonym: "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" EXACT []
xref: MIM:614299
xref: ORDO:401874
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome
is_a: DOID:9268 ! glycine encephalopathy

[Term]
id: DOID:0080135
name: multiple mitochondrial dysfunctions syndrome 3
def: "A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27785568 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28671726 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28913435 "DO", https://www.omim.org/entry/615330 "DO"]
synonym: "IBA57 deficiency" EXACT []
synonym: "MMDS3" EXACT []
xref: MIM:615330
xref: ORDO:363424
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome

[Term]
id: DOID:0080136
name: multiple mitochondrial dysfunctions syndrome 4
def: "A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25539947 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29122497 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29297947 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29359243 "DO", https://www.omim.org/entry/616370 "DO"]
synonym: "MMDS4" EXACT []
xref: MIM:616370
xref: ORDO:457406
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome
created_by: rgd
creation_date: 2017-03-13T00:00:00Z

[Term]
id: DOID:0080137
name: multiple endocrine neoplasia type 4
alt_id: MIM:610755
def: "A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO"]
synonym: "MEN4" EXACT []
synonym: "multiple endocrine neoplasia, type IV" EXACT []
xref: MESH:C567059
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3125 ! multiple endocrine neoplasia

[Term]
id: DOID:0080138
name: multiple congenital anomalies-hypotonia-seizures syndrome 1
alt_id: RDO:9000575
def: "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21493957 "DO"]
synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3" EXACT []
synonym: "GPIBD3" EXACT []
synonym: "MCAHS1" EXACT []
xref: MIM:614080
xref: NCI:C176896
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome

[Term]
id: DOID:0080139
name: multiple congenital anomalies-hypotonia-seizures syndrome 2
alt_id: DOID:0080466
def: "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10441586 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22305531 "DO"]
synonym: "DEE20" EXACT []
synonym: "developmental and epileptic encephalopathy 20" EXACT []
synonym: "early infantile epileptic encephalopathy 20" EXACT []
synonym: "EIEE20" EXACT []
synonym: "glycosylphosphatidylinositol biosynthesis defect 4" EXACT []
synonym: "GPIBD4" EXACT []
synonym: "MCAHS2" EXACT []
xref: GARD:12777
xref: MIM:300868
xref: ORDO:300496
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080140
name: multiple congenital anomalies-hypotonia-seizures syndrome 3
alt_id: DOID:9001439
def: "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36177944/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/21493957 "DO"]
synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7" EXACT []
synonym: "GPIBD7" EXACT []
synonym: "Light Fixation Seizure Syndrome" EXACT []
synonym: "MCAHS3" EXACT []
synonym: "M Syndrome" EXACT []
synonym: "PIGT-RELATED DISORDER" BROAD []
xref: MESH:C566367
xref: MIM:615398
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0080141
name: mosaic variegated aneuploidy syndrome 1
def: "A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15. (DO)" [https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome "DO"]
synonym: "chromosomal mosaicism due to mitotic instability" EXACT []
synonym: "instability mitotic non disjunction syndrome" EXACT []
synonym: "MVA1" EXACT []
synonym: "MVA syndrome" EXACT []
xref: MIM:257300
xref: NCI:C128192
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome

[Term]
id: DOID:0080142
name: mosaic variegated aneuploidy syndrome 2
def: "A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21552266/ "DO"]
synonym: "MVA2" EXACT []
xref: MIM:614114
xref: NCI:C168989
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome

[Term]
id: DOID:0080143
name: congenital fibrosis of the extraocular muscles
def: "An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles#synonyms "DO", https://www.ncbi.nlm.nih.gov/books/NBK1348/ "DO"]
synonym: "CFEOM" EXACT []
synonym: "congenital external ophthalmoplegia" EXACT []
synonym: "congenital fibrosis of extraocular muscles" EXACT []
synonym: "congenital fibrosis syndrome" EXACT []
synonym: "congenital ophthalmoplegia" EXACT []
synonym: "general fibrosis syndrome" EXACT []
xref: EFO:1001985
xref: GARD:12590
xref: MESH:C580012
xref: MIM:PS135700
xref: ORDO:45358
is_a: DOID:0080015 ! physical disorder
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:9000784 ! Fibrosis

[Term]
id: DOID:0080144
name: childhood acute lymphocytic leukemia
def: "An acute lymphocytic leukemia occurring during childhood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.04d&ns=NCI_Thesaurus&code=C3168&key=736438179&b=1&n=null "DO"]
synonym: "childhood acute lymphoblastic leukemia" EXACT []
synonym: "childhood ALL" EXACT []
xref: ICD-O:M9835/3
xref: MONDO:0000870
xref: NCI:C3168
is_a: DOID:9952 ! acute lymphoblastic leukemia
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:0080145
name: childhood T-cell acute lymphoblastic leukemia
alt_id: DOID:7933
def: "A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C7953 "DO"]
synonym: "childhood precursor T-lymphoblastic lymphoma/leukemia" EXACT []
synonym: "T-cell childhood acute lymphocytic leukemia" EXACT []
xref: EFO:0000207
xref: EFO:1001947
xref: ICD-O:M9831/3
xref: ICD-O:M9837/3
xref: MONDO:0044917
xref: NCI:C5640
xref: NCI:C7953
is_a: DOID:0080144 ! childhood acute lymphocytic leukemia
is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:0080146
name: childhood B-cell acute lymphoblastic leukemia
def: "A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C9140 "DO"]
xref: EFO:1001946
xref: ICD-O:M9836/3
xref: MONDO:0000872
xref: NCI:C9140
is_a: DOID:0080144 ! childhood acute lymphocytic leukemia
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:0080147
name: lymphoblastic lymphoma
def: "A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C7055 "DO"]
xref: GARD:3329
xref: NCI:C9360
xref: RDO:9002205
is_a: DOID:0060058 ! lymphoma
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:0080148
name: T-cell childhood lymphoblastic lymphoma
def: "A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf "DO"]
synonym: "childhood T lymphoblastic lymphoma" EXACT []
xref: EFO:1001948
xref: ICD-O:M9729/3
xref: NCI:C7210
is_a: DOID:0080147 ! lymphoblastic lymphoma
is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:0080149
name: adult acute monocytic leukemia
def: "An acute monocytic leukemia occurring in adults. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf "DO"]
xref: EFO:1001933
xref: NCI:C8263
is_a: DOID:8864 ! acute monocytic leukemia
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:0080150
name: adrenocorticotropic hormone deficiency
alt_id: MIM:201400
def: "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. (DO)" [https://en.wikipedia.org/wiki/Adrenocorticotropic_hormone_deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/27041067 "DO"]
synonym: "ACTH deficiency" EXACT []
synonym: "IAD" EXACT []
synonym: "isolated ACTH deficiency" EXACT []
xref: EFO:1001979
xref: MESH:C535668
xref: MESH:C562707
is_a: DOID:630 ! genetic disease
is_a: DOID:9008622 ! Adrenal Insufficiency
is_a: DOID:9406 ! hypopituitarism
is_a: DOID:9993 ! hypoglycemia

[Term]
id: DOID:0080153
name: medium chain acyl-CoA dehydrogenase deficiency
alt_id: MIM:201450
def: "A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. (DO)" [http://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/ "DO", https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency "DO"]
synonym: "ACADMD" EXACT []
synonym: "ACADM Deficiency" EXACT []
synonym: "Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of" EXACT []
synonym: "Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency" EXACT []
synonym: "MCAD Deficiency" EXACT []
synonym: "MCAD deficiency, modifier of" RELATED []
synonym: "MCADH Deficiency" EXACT []
synonym: "Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency" EXACT []
xref: GARD:540
xref: MESH:C536038
xref: NCI:C84538
xref: ORDO:42
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:0080154
name: short chain acyl-CoA dehydrogenase deficiency
alt_id: MIM:201470
def: "A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids. (DO)" [http://rarediseases.org/rare-diseases/short-chain-acyl-coa-dehydrogenase-deficiency-scad/ "DO"]
synonym: "ACADSD" EXACT []
synonym: "Acads Deficiency" EXACT []
synonym: "Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of" EXACT []
synonym: "Deficiency of Butyryl-Coa Dehydrogenase" EXACT []
synonym: "Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency" EXACT []
synonym: "Scad Deficiency" EXACT []
synonym: "Scadh Deficiency" EXACT []
synonym: "short-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT []
xref: GARD:4822
xref: MESH:C537596
xref: NCI:C84539
xref: ORDO:26792
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:0080155
name: very long chain acyl-CoA dehydrogenase deficiency
alt_id: MIM:201475
alt_id: OMIA:002140
def: "A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids. (DO)" [http://rarediseases.org/rare-diseases/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad/ "DO", https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency "DO"]
synonym: "ACADVL" EXACT []
synonym: "ACADVLD" EXACT []
synonym: "deficiency of very long-chain Acyl-CoA dehydrogenase" EXACT []
synonym: "exercise induced metabolic myopathy" RELATED []
synonym: "very long-chain Acyl Coenzyme A dehydrogenase deficiency" EXACT []
synonym: "VLCAD-C" EXACT []
synonym: "VLCAD deficiency" EXACT []
synonym: "VLCAD-H" EXACT []
xref: GARD:5508
xref: MESH:C536353
xref: NCI:C98647
xref: ORDO:26793
is_a: DOID:0080000 ! muscular disease
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:0080156
name: X-linked adrenal hypoplasia congenita
alt_id: MIM:300200
def: "An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK1431/ "DO", https://en.wikipedia.org/wiki/X-linked_adrenal_hypoplasia_congenita "DO", https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita#genes "DO", https://www.ncbi.nlm.nih.gov/pubmed/27376611 "DO"]
synonym: "adrenal hypoplasia congenita" EXACT []
synonym: "AHC" EXACT []
synonym: "AHCH" EXACT []
synonym: "AHC WITH HHG" EXACT []
synonym: "AHC with isolated gonadotropin deficiency" EXACT []
synonym: "AHX" EXACT []
synonym: "congenital adrenal hypoplasia" EXACT []
synonym: "congenital adrenal hypoplasia with hypogonadotropic hypogonadism" EXACT []
synonym: "cytomegalic adrenocortical hypoplasia" EXACT []
synonym: "X-linked Addison disease" EXACT []
synonym: "X-linked congenital adrenal hypoplasia" EXACT []
xref: GARD:555
xref: MESH:C536757
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:10493 ! adrenal cortical hypofunction
is_a: DOID:9008622 ! Adrenal Insufficiency

[Term]
id: DOID:0080158
name: herpes simplex virus keratitis
def: "A keratitis that has_material_basis_in herpes simplex type infection. (DO)" [http://www.aao.org/eye-health/diseases/herpes-keratitis "DO"]
synonym: "herpes simplex keratitides" EXACT []
synonym: "Herpes Simplex Keratitis" EXACT []
synonym: "Herpetic Keratitides" EXACT []
synonym: "Herpetic Stromal Keratitis" RELATED []
synonym: "HSK" RELATED []
synonym: "Keratitis, Herpetic" EXACT []
synonym: "ocular herpes simplex" EXACT []
xref: EFO:0007308
xref: MESH:D016849
is_a: DOID:4677 ! keratitis
is_a: DOID:8566 ! herpes simplex
is_a: DOID:9005295 ! Viral Eye Infections

[Term]
id: DOID:0080159
name: cryptococcal meningitis
def: "A fungal meningitis that has_material_basis_in Crypococcus fungal infection. (DO)" [https://medlineplus.gov/ency/article/000642.htm "DO"]
synonym: "cerebral cryptococcoses" EXACT []
synonym: "Cerebral Cryptococcosis" EXACT []
synonym: "Cryptococcal Meningitides" EXACT []
synonym: "Granulomous Cerebral Cryptococcoses" EXACT []
synonym: "Granulomous Cerebral Cryptococcosis" EXACT []
synonym: "Toruloma" EXACT []
synonym: "torulomas" EXACT []
xref: EFO:0007228
xref: MESH:D016919
is_a: DOID:11608 ! fungal meningitis
is_a: DOID:12053 ! cryptococcosis

[Term]
id: DOID:0080160
name: cytomegalovirus retinitis
def: "A retinitis that has_material_basis_in Cytomegalovirus. (DO)" [https://medlineplus.gov/ency/article/000665.htm "DO"]
synonym: "CMV retinitis" EXACT []
synonym: "cytomegaloviral retinitis" EXACT []
xref: EFO:1001302
xref: GARD:9531
xref: MESH:D017726
is_a: DOID:3612 ! retinitis
is_a: DOID:9005295 ! Viral Eye Infections
is_a: DOID:9006262 ! Cytomegalovirus Infections

[Term]
id: DOID:0080161
name: cutaneous candidiasis
def: "A candidiasis that is characterized by Candida infection located_in the skin. (DO)" [https://medlineplus.gov/ency/article/000880.htm "DO"]
synonym: "cutaneous candidiases" EXACT []
synonym: "cutaneous moniliases" EXACT []
synonym: "cutaneous moniliasis" EXACT []
xref: MESH:D002179
is_a: DOID:1508 ! candidiasis
is_a: DOID:1563 ! dermatomycosis

[Term]
id: DOID:0080162
name: lupus nephritis
def: "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus. (DO)" [https://en.wikipedia.org/wiki/Lupus_nephritis#cite_note-1 "DO", https://medlineplus.gov/ency/article/000481.htm "DO"]
synonym: "Lupus Glomerulonephritides" EXACT []
synonym: "Lupus Glomerulonephritis" EXACT []
synonym: "Lupus Nephritides" EXACT []
synonym: "lupus nephritis, susceptibility to" RELATED []
xref: EFO:0005761
xref: GARD:10747
xref: MESH:D008181
is_a: DOID:2921 ! glomerulonephritis
is_a: DOID:9074 ! systemic lupus erythematosus

[Term]
id: DOID:0080163
name: otulipenia
def: "An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15. (DO)" [http://www.omim.org/entry/617099?search=617099&highlight=617099 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27523608 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27559085 "DO", https://www.nih.gov/news-events/news-releases/nih-researchers-discover-otulipenia-new-inflammatory-disease "DO"]
synonym: "AIPDS" EXACT []
synonym: "autoinflammation, panniculitis, and dermatosis syndrome" EXACT []
synonym: "ORAS" EXACT []
synonym: "otulin-autoinflammatory syndrome" EXACT []
synonym: "OTULIN-RELATED AUTOINFLAMMATORY SYNDROME" EXACT []
xref: GARD:13198
xref: MIM:617099
xref: NCI:C174441
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1526 ! panniculitis
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases

[Term]
id: DOID:0080164
name: myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
def: "A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19357394 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23489324 "DO"]
synonym: "Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms" EXACT []
synonym: "Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" EXACT []
xref: NCI:C84270
is_a: DOID:0070004 ! myeloid neoplasm
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:0080165
name: myeloid and lymphoid neoplasms associated with PDGFRA rearrangement
def: "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84275&key=n472778324&b=1&n=null "DO"]
synonym: "myeloid and lymphoid neoplasms with PDGFRA rearrangement" EXACT []
xref: NCI:C84275
is_a: DOID:0080164 ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:0080166
name: myeloid and lymphoid neoplasms associated with PDGFRB rearrangement
def: "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84276&key=n472778324&b=1&n=null "DO"]
synonym: "myeloid and lymphoid neoplasms with PDGFRB rearrangement" EXACT []
synonym: "myeloid neoplasms associated with PDGFRB rearrangement" EXACT []
xref: NCI:C84276
is_a: DOID:0080164 ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:0080167
name: myeloid and lymphoid neoplasms associated with FGFR1 abnormalities
def: "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84277&key=n472778324&b=1&n=null "DO"]
xref: NCI:C84277
is_a: DOID:0080164 ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:0080169
name: tricuspid atresia
alt_id: MIM:605067
def: "A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth. (DO)" [https://medlineplus.gov/ency/article/001110.htm "DO"]
synonym: "Absent Right Atrioventricular Connection" EXACT []
synonym: "tricuspid atresias" EXACT []
synonym: "Tricuspid Valve Atresia" EXACT []
synonym: "tricuspid valve atresias" EXACT []
xref: GARD:5274
xref: MESH:D018785
xref: NCI:C85202
is_a: DOID:0050826 ! tricuspid valve disease
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:0080170
name: normophosphatemic familial tumoral calcinosis
alt_id: MIM:610455
def: "A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors. (DO)" [https://en.wikipedia.org/wiki/Normophosphatemic_familial_tumoral_calcinosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/21160498 "DO"]
synonym: "familial tumoral calcinosis" BROAD []
synonym: "NFTC" EXACT []
synonym: "tumoral calcinosis with normophosphatemia" EXACT []
xref: GARD:10878
xref: MESH:C566473
is_a: DOID:182 ! calcinosis

[Term]
id: DOID:0080171
name: esophageal atresia/tracheoesophageal fistula
alt_id: MIM:189960
def: "A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing. (DO)" [https://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula "DO"]
synonym: "Ea-Tef" EXACT []
synonym: "esophageal atresia and/or tracheoesophageal fistula" EXACT []
synonym: "esophageal atresia with or without tracheoesophageal fistula" EXACT []
synonym: "tracheoesophageal fistula with or without esohageal atresia" EXACT []
xref: GARD:7792
xref: MESH:C531835
is_a: DOID:10485 ! esophageal atresia
is_a: DOID:9008498 ! Tracheoesophageal Fistula

[Term]
id: DOID:0080172
name: thiopurine S-methyltransferase deficiency
def: "An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. (DO)" [https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency#statistics "DO"]
synonym: "6 alpha mercaptopurine sensitivity" EXACT []
synonym: "azathioprine intolerance" RELATED []
synonym: "poor metabolism of thiopurines" EXACT []
synonym: "poor metabolism of thiopurines-1" EXACT []
synonym: "thiopurine methyltransferase deficiency" EXACT []
synonym: "TPMTD" EXACT []
synonym: "TPMT deficiency" EXACT []
xref: MESH:C536512
xref: MIM:PS610460
is_a: DOID:0060500 ! drug allergy
is_a: DOID:653 ! purine-pyrimidine metabolic disorder
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0080173
name: bladder exstrophy-epispadias-cloacal exstrophy complex
alt_id: MIM:258040
def: "A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. (DO)" [https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/22055685 "DO"]
synonym: "Bladder Exstrophy and Epispadias Complex" EXACT []
synonym: "exstrophy-epispadias complex" EXACT []
xref: MESH:C564009
xref: ORDO:322
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9000336 ! Epispadias

[Term]
id: DOID:0080174
name: bladder exstrophy
alt_id: MIM:600057
def: "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. (DO)" [https://en.wikipedia.org/wiki/Bladder_exstrophy "DO", https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/21929991 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22055685 "DO"]
synonym: "bladder exstrophies" EXACT []
synonym: "bladder extrophies" EXACT []
synonym: "bladder extrophy" EXACT []
synonym: "exstrophy of bladder" EXACT []
synonym: "exstrophy of the bladder" EXACT []
synonym: "urinary bladder exstrophies" EXACT []
synonym: "urinary bladder exstrophy" EXACT []
xref: ICD10CM:Q64.10
xref: ICD9CM:753.5
xref: MESH:D001746
xref: MONDO:0010805
xref: ORDO:93930
is_a: DOID:0080173 ! bladder exstrophy-epispadias-cloacal exstrophy complex
is_a: DOID:365 ! bladder disease

[Term]
id: DOID:0080175
name: cloacal exstrophy
def: "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel. (DO)" [https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ "DO"]
xref: ORDO:93929
is_a: DOID:0080173 ! bladder exstrophy-epispadias-cloacal exstrophy complex

[Term]
id: DOID:0080176
name: meningococcal meningitis
def: "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. (DO)" [http://www.who.int/mediacentre/factsheets/fs141/en/ "DO", https://en.wikipedia.org/wiki/Meningococcal_disease "DO", https://www.cdc.gov/meningococcal/about/symptoms.html "DO"]
synonym: "meningococcal meningitis, serogroup A" NARROW []
synonym: "meningococcal meningitis, serogroup B" NARROW []
synonym: "meningococcal meningitis,  serogroup C" NARROW []
synonym: "meningococcal meningitis, serogroup W 135" NARROW []
synonym: "meningococcal meningitis, serogroup W135" NARROW []
synonym: "meningococcal meningitis, serogroup Y" NARROW []
synonym: "meningococcic meningitis" EXACT []
xref: EFO:1001040
xref: ICD10CM:A39.0
xref: ICD9CM:036.0
xref: MESH:D008585
is_a: DOID:9008366 ! Meningococcal Infections
is_a: DOID:9470 ! bacterial meningitis

[Term]
id: DOID:0080177
name: hepatic veno-occlusive disease
def: "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. (DO)" [https://en.wikipedia.org/wiki/Hepatic_veno-occlusive_disease "DO"]
synonym: "hepatic veno-occlusive diseases" EXACT []
synonym: "sinusoidal obstruction syndrome" EXACT []
xref: GARD:13004
xref: ICD10CM:K76.5
xref: MESH:D006504
is_a: DOID:272 ! hepatic vascular disease
is_a: DOID:9004096 ! Veno-Occlusive Disease

[Term]
id: DOID:0080178
name: mucositis
def: "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract. (DO)" [https://en.wikipedia.org/wiki/Mucositis "DO"]
synonym: "chemotherapy-induced gut toxicity" NARROW []
synonym: "chemotherapy-induced mucositis" NARROW []
synonym: "CIGT" NARROW []
synonym: "CIM" NARROW []
synonym: "mucositides" EXACT []
xref: EFO:1001880
xref: EFO:1001898
xref: MESH:D052016
is_a: DOID:2326 ! gastroenteritis
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:0080179
name: haemophilus meningitis
def: "A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. (DO)" [https://en.wikipedia.org/wiki/Haemophilus_meningitis "DO"]
synonym: "Haemophilus influenzae meningitis" EXACT []
synonym: "Haemophilus influenzae Meningitis Type B" EXACT []
synonym: "Haemophilus Meningitides" EXACT []
synonym: "Haemophilus parainfluenzae Meningitides" EXACT []
synonym: "Haemophilus parainfluenzae Meningitis" EXACT []
synonym: "Hemophilus influenzae Meningitis Type B" EXACT []
synonym: "Hemophilus Meningitides" EXACT []
synonym: "Hemophilus Meningitis" EXACT []
synonym: "HiB Meninigitis" EXACT []
synonym: "Meningitis, Haemophilus influenzae Type F" EXACT []
synonym: "Meningitis, Hemophilus influenzae Type F" EXACT []
xref: EFO:1000955
xref: ICD10CM:G00.0
xref: ICD9CM:320.0
xref: MESH:D008583
is_a: DOID:9000109 ! Haemophilus Infections
is_a: DOID:9470 ! bacterial meningitis

[Term]
id: DOID:0080180
name: Zika virus congenital syndrome
def: "A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus infection in utero. (DO)" [http://www.who.int/bulletin/volumes/94/6/16-176990/en/ "DO", https://wwwn.cdc.gov/nndss/conditions/zika/case-definition/2016/06/ "DO"]
synonym: "ZIKV congenital infection" EXACT []
xref: MONDO:0000890
is_a: DOID:0060478 ! Zika fever
is_a: DOID:0080015 ! physical disorder
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:0080181
name: PHARC syndrome
alt_id: MIM:612674
def: "A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24697911 "DO"]
synonym: "ABHD12-RELATED CONDITION" EXACT []
synonym: "PHARC" EXACT []
synonym: "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT []
synonym: "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract (PHARC)" EXACT []
synonym: "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT []
xref: MESH:C567203
xref: ORDO:171848
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:0080182
name: mixed fibrolamellar hepatocellular carcinoma
def: "A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. (DO)" [https://wjso.biomedcentral.com/articles/10.1186/s12957-016-0903-8 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880064/ "DO"]
is_a: DOID:5015 ! fibrolamellar carcinoma

[Term]
id: DOID:0080183
name: medullary colon carcinoma
def: "A colon carcinoma that is characterized by a solid growth pattern. (DO)" [http://www.pathologyoutlines.com/topic/colontumormedullary.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/10414504 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20811712 "DO"]
xref: RDO:9002020
is_a: DOID:1520 ! colon carcinoma
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:0080184
name: mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma
def: "A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). (DO)" [https://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung "DO", https://www.ncbi.nlm.nih.gov/pubmed/20073606 "DO"]
synonym: "indeterminate bronchioloalveolar carcinoma" EXACT []
synonym: "mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma" EXACT []
is_a: DOID:4926 ! bronchiolo-alveolar adenocarcinoma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:0080185
name: mucinous bronchioloalveolar adenocarcinoma
def: "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16463270 "DO"]
is_a: DOID:3030 ! mucinous adenocarcinoma
is_a: DOID:4926 ! bronchiolo-alveolar adenocarcinoma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:0080186
name: nonmucinous bronchioloalveolar adenocarcinoma
def: "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17616987 "DO"]
is_a: DOID:4926 ! bronchiolo-alveolar adenocarcinoma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:0080187
name: chronic neutrophilic leukemia
def: "A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. (DO)" [https://en.wikipedia.org/wiki/Chronic_neutrophilic_leukemia "DO"]
synonym: "chronic neutrophilic leukemias" EXACT []
xref: EFO:1000179
xref: GARD:10585
xref: ICDO:9963/3
xref: MESH:D015467
xref: NCI:C3179
is_a: DOID:0070004 ! myeloid neoplasm
is_a: DOID:1036 ! chronic leukemia

[Term]
id: DOID:0080188
name: chronic myelomonocytic leukemia
def: "A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. (DO)" [https://en.wikipedia.org/wiki/Chronic_myelomonocytic_leukemia "DO", https://www.ncbi.nlm.nih.gov/pubmed/30367269 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31093889 "DO"]
synonym: "chronic myelomonocytic leukemias" EXACT []
xref: EFO:1001779
xref: GARD:8225
xref: ICDO:9945/3
xref: MESH:D015477
xref: NCI:C3178
is_a: DOID:1036 ! chronic leukemia
is_a: DOID:4972 ! myelodysplastic/myeloproliferative neoplasm
is_a: DOID:8692 ! myeloid leukemia

[Term]
id: DOID:0080189
name: malignant hemangioma
def: "A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen. (DO)" [http://www.rare-cancer.org/info/hemangioendothelioma.php "DO", https://en.wikipedia.org/wiki/Hemangioma "DO"]
is_a: DOID:1115 ! sarcoma
is_a: DOID:154 ! mixed cell type cancer
is_a: DOID:175 ! vascular cancer

[Term]
id: DOID:0080190
name: malignant epithelioid hemangioendothelioma
def: "A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C3800 "DO"]
xref: NCI:C3800
is_a: DOID:0080189 ! malignant hemangioma
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0080191
name: PTEN hamartoma tumor syndrome
alt_id: MESH:C566636
alt_id: OMIA:001515
def: "A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. (DO)" [https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1488/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/22628360 "DO"]
synonym: "cerebellar granule cell hypertrophy and megalencephaly" NARROW []
synonym: "cerebelloparenchymal disorder VI" NARROW []
synonym: "Colorectal hamartomatous polyposis and ganglioneuromatosis" NARROW []
synonym: "CS" EXACT []
synonym: "HAMARTOMATOUS POLYPOSIS" RELATED []
synonym: "MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM" NARROW []
synonym: "Multiple Hamartoma Syndrome" EXACT []
synonym: "multiple hamartoma syndromes" EXACT []
synonym: "PROTEUS-like syndrome" NARROW []
synonym: "PTEN hamartoma tumor syndrome with granular cell tumor" EXACT []
xref: GARD:12800
xref: MESH:D006223
is_a: DOID:9001030 ! Multiple Primary Neoplasms
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes
is_a: DOID:9007253 ! Hamartoma

[Term]
id: DOID:0080192
name: relapsed/refractory diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22160081 "DO"]
is_a: DOID:0050745 ! diffuse large B-cell lymphoma
created_by: rgd
creation_date: 2017-10-10T00:00:00Z

[Term]
id: DOID:0080193
name: superior semicircular canal dehiscence
def: "An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10651428/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/28503164 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28790965 "DO"]
synonym: "canal dehiscence syndrome" EXACT []
synonym: "minor's syndrome" EXACT []
synonym: "superior canal dehiscence" EXACT []
synonym: "superior canal syndrome" EXACT []
synonym: "superior semicircular canal dehiscence syndrome" EXACT []
synonym: "third mobile window syndrome" EXACT []
xref: ORDO:420402
xref: RDO:9004683
is_a: DOID:2952 ! inner ear disease
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:0080194
name: Carey-Fineman-Ziter syndrome
def: "A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28681861 "DO", https://www.omim.org/entry/254940?search=254940&highlight=254940 "DO"]
synonym: "Congenital nonprogressive myopathy with Moebius and Robin sequence" EXACT []
synonym: "Moebius sequence, Robin complex, and hypotonia" EXACT []
synonym: "Myopathy, Congenital Nonprogressive with Moebius and Robin Sequences" EXACT []
synonym: "Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence" EXACT []
xref: MESH:C536102
xref: MIM:PS254940
is_a: DOID:0080000 ! muscular disease
is_a: DOID:13501 ! Moebius syndrome
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome

[Term]
id: DOID:0080195
name: Marinesco-Sjogren syndrome
def: "A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. (DO)" [https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome#synonyms "DO", https://www.omim.org/entry/248800?search=248800&highlight=248800 "DO"]
synonym: "Garland-Moorhouse syndrome" EXACT []
synonym: "hereditary oligophrenic cerebello-lental degeneration" EXACT []
synonym: "Marinesco-Garland syndrome" EXACT []
synonym: "Marinesco Sjogren Garland syndrome" EXACT []
synonym: "Marinesco-Sjogren-like syndrome (MSLS)" EXACT []
synonym: "Marinesco Sjogren syndrome hypergonadotrophic hypogonadism" EXACT []
synonym: "Marinesco Sjogren syndrome myopathy" EXACT []
synonym: "Marinesco Sjögren syndrome" EXACT []
synonym: "oligophrenic cerebellolenticular degeneration" EXACT []
xref: GARD:8341
xref: MESH:C535913
xref: ORDO:559
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
is_a: DOID:0080000 ! muscular disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract

[Term]
id: DOID:0080196
name: mandibulofacial dysostosis, Guion-Almeida type
alt_id: MIM:610536
def: "A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. (DO)" [https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly "DO", https://www.ncbi.nlm.nih.gov/books/NBK214367/ "DO"]
synonym: "EFTUD2-RELATED CONDITION" EXACT []
synonym: "growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate" EXACT []
synonym: "mandibulofacial dysostosis-microcephaly syndrome" EXACT []
synonym: "mandibulofacial dysostosis with microcephaly" RELATED []
synonym: "MFDGA" EXACT []
synonym: "MFDM" EXACT []
synonym: "MFDM syndrome" EXACT []
xref: GARD:10056
xref: MESH:C537405
xref: ORDO:79113
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:0080197
name: congenital muscular dystrophy with cataracts and intellectual disability
alt_id: RDO:9001716
def: "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28190459 "DO"]
synonym: "MDCCAID" EXACT []
xref: EFO:0009149
xref: MIM:617404
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11724 ! limb-girdle muscular dystrophy
is_a: DOID:83 ! cataract

[Term]
id: DOID:0080198
name: infantile histiocytoid cardiomyopathy
alt_id: MIM:500000
def: "An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10960495 "DO"]
synonym: "foamy myocardial transformation of infancy" EXACT []
synonym: "focal lipid cardiomyopathy" EXACT []
synonym: "infantile xanthomatous cardiomyopathy" EXACT []
synonym: "oncocytic cardiomyopathy" EXACT []
xref: GARD:9511
xref: MESH:C535584
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0060036 ! intrinsic cardiomyopathy

[Term]
id: DOID:0080199
name: colorectal carcinoma
def: "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C4978 "DO"]
synonym: "colorectal carcinomas" EXACT []
xref: EFO:0000755
xref: EFO:1001951
xref: NCI:C2955
is_a: DOID:305 ! carcinoma
is_a: DOID:9256 ! colorectal cancer

[Term]
id: DOID:0080200
name: bilateral renal aplasia
def: "A renal agenesis that is characterized by the absence of both kidneys at birth. (DO)" [https://rarediseases.org/rare-diseases/renal-agenesis-bilateral/ "DO"]
xref: EFO:1001951
xref: ORDO:1848
is_a: DOID:14766 ! renal agenesis

[Term]
id: DOID:0080201
name: Peters plus syndrome
alt_id: MIM:261540
def: "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. (DO)" [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=709 "DO", https://en.wikipedia.org/wiki/Peters-plus_syndrome "DO", https://ghr.nlm.nih.gov/condition/peters-plus-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1464/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/25544610 "DO"]
synonym: "Krause-Kivlin syndrome" EXACT []
synonym: "Krause-Van Schooneveld-Kivlin syndrome" EXACT []
synonym: "Peters anomaly-short limb dwarfism syndrome" EXACT []
synonym: "Peters anomaly with short limb dwarfism" EXACT []
xref: GARD:8422
xref: MESH:C537617
xref: NCI:C123436
is_a: DOID:0060673 ! Peters anomaly
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:0080202
name: adenoid cystic carcinoma
def: "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. (DO)" [http://codes.iarc.fr/code/2592 "DO", https://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma "DO", https://meshb.nlm.nih.gov/record/ui?ui=D003528 "DO"]
synonym: "adenocystic carcinoma" EXACT []
synonym: "adenocystic carcinomas" EXACT []
synonym: "adenoid cystic carcinomas" EXACT []
synonym: "cylindroma" EXACT []
synonym: "cylindromas" EXACT []
xref: EFO:0000231
xref: GARD:5743
xref: ICDO:8200/3
xref: MESH:D003528
is_a: DOID:305 ! carcinoma
is_a: DOID:8858 ! tonsil cancer

[Term]
id: DOID:0080204
name: renal hypoplasia
def: "A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons. (DO)" [https://www.nature.com/articles/pr2010138 "DO"]
xref: EFO:0009471
xref: ORDO:93101
is_a: DOID:557 ! kidney disease
is_a: DOID:9007600 ! Renal and Mullerian Duct Hypoplasia

[Term]
id: DOID:0080205
name: CAKUT
def: "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. (DO)" [https://www.jci.org/articles/view/95300 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468264/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/25313840 "DO"]
synonym: "congenital anomalies of kidney and urinary tract" EXACT []
synonym: "congenital anomalies of the kidney and urinary tract" EXACT []
synonym: "NON-SYNDROMIC RENAL OR URINARY TRACT MALFORMATION" EXACT []
synonym: "renal or urinary tract malformation" EXACT []
xref: MESH:C566906
xref: MIM:PS610805
xref: ORDO:93545
is_a: DOID:18 ! urinary system disease
is_a: DOID:9620 ! vesicoureteral reflux

[Term]
id: DOID:0080206
name: CAKUT1
alt_id: MIM:610805
def: "A CAKUT that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23862974 "DO"]
synonym: "congenital anomalies of kidney and urinary tract 1" EXACT []
synonym: "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1, SUSCEPTIBILITY TO" RELATED []
synonym: "congenital anomalies of the kidney and urinary tract 1" EXACT []
synonym: "DSTYK-RELATED CONDITION" BROAD []
synonym: "nonsyndromic renal hypodysplasia 1" EXACT []
synonym: "RHDNS1" EXACT []
xref: MESH:C563661
is_a: DOID:0080205 ! CAKUT
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:0080207
name: CAKUT2
alt_id: MIM:143400
def: "A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26235987 "DO"]
synonym: "congenital anomalies of kidney and urinary tract 2" EXACT []
synonym: "Congenital anomalies of the kidney and urinary tract 2" EXACT []
synonym: "Hydronephrosis Due To Pujo" EXACT []
synonym: "MCRD" EXACT []
synonym: "Multicystic Renal Dysplasia, Bilateral" EXACT []
synonym: "Pelvi-ureteric junction obstruction" EXACT []
synonym: "Pelviureteric Junction Obstruction" EXACT []
synonym: "PUJO" EXACT []
synonym: "UPJO" EXACT []
synonym: "ureteropelvic junction obstruction" RELATED []
xref: MESH:C537373
is_a: DOID:0080205 ! CAKUT
is_a: DOID:11111 ! hydronephrosis
is_a: DOID:5199 ! ureteral obstruction
is_a: DOID:630 ! genetic disease
is_a: DOID:9005988 ! Multicystic Dysplastic Kidney

[Term]
id: DOID:0080208
name: metabolic dysfunction-associated steatotic liver disease
alt_id: MIM:613282
alt_id: MIM:613387
def: "A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:\n(1) Body mass index ≥ 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.\n(2) Fasting serum glucose ≥ 5.6 mmol/L, 2-hr post-load glucose levels ≥ 7.8 mmol/L, glycated hemoglobin (HbA1c) ≥ 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose ≥ 11.1 mmol/L (pediatric only).\n(3) Blood pressure ≥ lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age ≥ 13 years); or specific hypertensive drug treatment.\n(4) Plasma triglycerides ≥ 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age ≥ 10 years); or lipid lowering treatment.\n(5) Plasma high-density lipoprotein cholesterol ≤ 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37364816/ "DO"]
synonym: "alcoholic liver disease, susceptibility to, 1" RELATED []
synonym: "Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2" RELATED []
synonym: "MAFLD" EXACT []
synonym: "MASLD" EXACT []
synonym: "metabolic-associated fatty liver disease" EXACT []
synonym: "metabolic dysfunction-associated fatty liver disease" EXACT []
synonym: "metabolic dysfunction-related steatotic liver disease" EXACT []
synonym: "NAFLD" EXACT []
synonym: "NAFLD1" NARROW []
synonym: "NAFLD2" NARROW []
synonym: "Nonalcoholic Fatty Liver" EXACT []
synonym: "non-alcoholic fatty liver disease" EXACT []
synonym: "nonalcoholic fatty liver disease" EXACT []
synonym: "nonalcoholic fatty liver disease, susceptibility to" RELATED []
synonym: "nonalcoholic fatty liver disease, susceptibility to, 1" RELATED []
xref: EFO:0003095
xref: MESH:D065626
xref: NCI:C84444
is_a: DOID:9452 ! steatotic liver disease

[Term]
id: DOID:0080209
name: sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
def: "A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23553769 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25193871 "DO"]
synonym: "SIFD" EXACT []
xref: MIM:616084
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:8955 ! sideroblastic anemia
is_a: DOID:9000972 ! Fever
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:0080210
name: primary mediastinal B-cell lymphoma
def: "A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28318892 "DO"]
synonym: "large cell lymphoma of the mediastinum" EXACT []
synonym: "mediastinal diffuse large-cell lymphoma with sclerosis" EXACT []
synonym: "primary mediastinal clear cell lymphoma of B-cell type" EXACT []
xref: ICD10CM:C85.2
xref: MONDO:0020323
xref: NCI:C9280
xref: ORDO:98838
is_a: DOID:0050745 ! diffuse large B-cell lymphoma
is_a: DOID:0081452 ! large B-cell lymphoma

[Term]
id: DOID:0080211
name: nodal marginal zone lymphoma
def: "A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C8863 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26989202 "DO"]
xref: NCI:C8863
is_a: DOID:0050748 ! marginal zone lymphoma

[Term]
id: DOID:0080212
name: polycystic kidney disease 4
def: "A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene. (DO)" [https://www.omim.org/entry/173900 "DO"]
synonym: "abnormality of the intrahepatic bile duct" BROAD []
synonym: "ARPKD" EXACT []
synonym: "infantile polycystic kidney disease, type 1" EXACT []
synonym: "infantile polycystic kidney disease, type I" EXACT []
synonym: "PKD3" EXACT []
synonym: "PKD4" EXACT []
synonym: "PKHD1" EXACT []
synonym: "PKHD1-RELATED CONDITION" EXACT []
synonym: "POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1" EXACT []
synonym: "Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive)" EXACT []
synonym: "POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE" EXACT []
synonym: "polycystic kidney disease 4 with or without polycystic liver disease" EXACT []
synonym: "polycystic kidney disease, autosomal recessive" EXACT []
xref: MIM:263200
is_a: DOID:0110861 ! autosomal recessive polycystic kidney disease

[Term]
id: DOID:0080213
name: punctate palmoplantar keratoderma type II
def: "A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8651714/ "DO"]
synonym: "palmoplantar keratoderma, punctate type 2" EXACT []
synonym: "PPKP2" EXACT []
xref: GARD:4439
xref: MIM:175860
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060361 ! punctate palmoplantar keratoderma

[Term]
id: DOID:0080214
name: punctate palmoplantar keratoderma type I
alt_id: MIM:148600
alt_id: MIM:614936
def: "A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23000146/ "DO"]
synonym: "Buschke Fischer Brauer syndrome" EXACT []
synonym: "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" EXACT []
synonym: "keratosis palmoplantaris papulosa" EXACT []
synonym: "KPPP1" EXACT []
synonym: "PPKP1" EXACT []
synonym: "PPKP1A" EXACT []
synonym: "punctate palmoplantar keratoderma type 1" EXACT []
synonym: "punctate palmoplantar keratoderma type 1A" EXACT []
synonym: "punctate palmoplantar keratoderma type 1B" EXACT []
synonym: "punctate palmoplantar keratoderma type IA" EXACT []
xref: MESH:C536161
is_a: DOID:0060361 ! punctate palmoplantar keratoderma

[Term]
id: DOID:0080215
name: developmental and epileptic encephalopathy 8
alt_id: MIM:300607
def: "A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15215304 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21633362 "DO"]
synonym: "DEE8" EXACT []
synonym: "early infantile epileptic encephalopathy 8" EXACT []
synonym: "EIEE8" EXACT []
synonym: "hyperekplexia and epilepsy" EXACT []
xref: MESH:C564474
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0060695 ! hyperekplexia
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080216
name: duodenal atresia
alt_id: MIM:223400
def: "An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum. (DO)" [https://en.wikipedia.org/wiki/Duodenal_atresia "DO"]
synonym: "duodenal stenosis" EXACT []
synonym: "familial duodenal atresia" EXACT []
xref: GARD:54
xref: MESH:C535720
is_a: DOID:10486 ! intestinal atresia
is_a: DOID:3558 ! duodenal obstruction

[Term]
id: DOID:0080217
name: lysosomal acid lipase deficiency
def: "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31. (DO)" [https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK395569/ "DO"]
synonym: "acid cholesteryl ester hydrolase deficiency, type 2" EXACT []
synonym: "acid lipase disease" EXACT []
synonym: "CESD" EXACT []
synonym: "cholesterol ester hydrolase deficiency" EXACT []
synonym: "LAL-D" EXACT []
synonym: "LAL deficiency" EXACT []
synonym: "LIPA deficiency" EXACT []
xref: EFO:0700022
xref: GARD:12097
xref: ICD10CM:E75.5
xref: MIM:PS278000
xref: ORDO:275761
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:0080218
name: primary spontaneous pneumothorax
def: "A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung. (DO)" [https://ghr.nlm.nih.gov/condition/primary-spontaneous-pneumothorax "DO"]
xref: GARD:4997
xref: MIM:173600
is_a: DOID:1673 ! pneumothorax

[Term]
id: DOID:0080219
name: dystransthyretinemic hyperthyroxinemia
alt_id: MIM:145680
def: "A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1979335/ "DO"]
synonym: "DTTRH" EXACT []
synonym: "dysprealbuminemic hyperthyroxinemia" EXACT []
synonym: "dystransthyretinemic euthyroidal hyperthyroxinemia" EXACT []
synonym: "euthryroidal hyperthyroxinemia 2" EXACT []
xref: MESH:C567719
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2855 ! hyperthyroxinemia

[Term]
id: DOID:0080222
name: pseudohypoparathyroidism type IB
def: "A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6301273 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6325502 "DO"]
synonym: "PHP1B" EXACT []
synonym: "PHP IB" EXACT []
synonym: "pseudohypoparathyroidism type 1B" EXACT []
xref: GARD:10680
xref: MIM:603233
xref: ORDO:94089
is_a: DOID:4184 ! pseudohypoparathyroidism

[Term]
id: DOID:0080223
name: epidermolytic palmoplantar keratoderma
def: "A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7544663 "DO"]
synonym: "epidermolytic palmoplantar keratodermas" EXACT []
synonym: "epidermolytic Thost-Unna disease" EXACT []
synonym: "EPPK" EXACT []
synonym: "EPPK (epidermolytic palmoplantar heratoderma)" EXACT []
synonym: "Greither Keratosis" EXACT []
synonym: "Keratosis of Greither" EXACT []
synonym: "keratosis palmaris et plantaris familiaris" EXACT []
synonym: "localized epidermolytic hyperkeratoses" EXACT []
synonym: "localized epidermolytic hyperkeratosis" EXACT []
synonym: "PPKE" EXACT []
synonym: "tylosis" EXACT []
xref: GARD:2826
xref: MESH:D053546
xref: MIM:PS144200
xref: MONDO:0968949
xref: NCI:C84693
xref: ORDO:2199
is_a: DOID:9002223 ! Diffuse Palmoplantar Keratoderma

[Term]
id: DOID:0080224
name: autosomal dominant dystrophic epidermolysis bullosa
alt_id: MIM:131750
def: "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. (DO)" [https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes "DO"]
synonym: "albopapuloid dominant dystrophic EB" EXACT []
synonym: "ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA" NARROW []
synonym: "Cockayne Touraine disease" EXACT []
synonym: "DDEB" EXACT []
synonym: "EBDCT" EXACT []
synonym: "EBDD EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE" NARROW []
synonym: "EBDSC" NARROW []
synonym: "epidermolysis bullosa, Cockayne Touraine type" EXACT []
synonym: "epidermolysis bullosa dystrophica, AD" EXACT []
synonym: "epidermolysis bullosa dystrophica, autosomal dominant" EXACT []
synonym: "epidermolysis bullosa dystrophica, Cockayne Touraine type" EXACT []
synonym: "epidermolysis bullosa dystrophica, dominant" EXACT []
synonym: "epidermolysis bullosa dystrophica, Pasini type" EXACT []
xref: GARD:2139
xref: MESH:C535956
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4959 ! epidermolysis bullosa dystrophica

[Term]
id: DOID:0080225
name: amyotrophic lateral sclerosis type 23
def: "An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28469040/ "DO"]
synonym: "ALS23" EXACT []
synonym: "amyotrophic lateral sclerosis 23" EXACT []
synonym: "ANXA11-RELATED CONDITION" BROAD []
xref: MIM:617839
xref: NCI:C178411
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0080226
name: autosomal dominant intellectual developmental disorder 56
def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26822784 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29100083 "DO"]
synonym: "autosomal dominant mental retardation 56" EXACT []
synonym: "CLTC-RELATED CONDITION" EXACT []
synonym: "MRD56" EXACT []
xref: MIM:617854
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0080227
name: autosomal dominant intellectual developmental disorder 55
def: "An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29100083 "DO"]
synonym: "autosomal dominant intellectual developmental disorder 55 with seizures" EXACT []
synonym: "autosomal dominant mental retardation 55" EXACT []
synonym: "autosomal dominant mental retardation 55 with seizures" EXACT []
synonym: "MRD55" EXACT []
xref: MIM:617831
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0080228
name: autosomal dominant intellectual developmental disorder 53
alt_id: MIM:617798
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29100089/ "DO"]
synonym: "autosomal dominant mental retardation 53" EXACT []
synonym: "MRD53" EXACT []
xref: EFO:0009165
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0080230
name: autosomal dominant intellectual developmental disorder 54
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29100089/ "DO"]
synonym: "autosomal dominant mental retardation 54" EXACT []
synonym: "CAMK2B-RELATED CONDITION" EXACT []
synonym: "MRD54" EXACT []
xref: EFO:0009164
xref: MIM:617799
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0080231
name: autosomal dominant intellectual developmental disorder 52
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23033978/ "DO"]
synonym: "ASH1L-RELATED CONDITION" EXACT []
synonym: "ASH1L-RELATED DISORDER" EXACT []
synonym: "autosomal dominant mental retardation 52" EXACT []
synonym: "MRD52" EXACT []
xref: EFO:0009152
xref: MIM:617796
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0080232
name: autosomal dominant intellectual developmental disorder 51
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28191889/ "DO"]
synonym: "autosomal dominant mental retardation 51" EXACT []
synonym: "MRD51" EXACT []
xref: MIM:617788
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0080233
name: autosomal dominant intellectual developmental disorder 50
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28191889/ "DO"]
synonym: "autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities" EXACT []
synonym: "autosomal dominant mental retardation 50" EXACT []
synonym: "MRD50" EXACT []
synonym: "NAA15-related syndrome" BROAD []
xref: MIM:617787
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0080234
name: Clark-Baraitser syndrome
alt_id: MIM:617752
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27848077/ "DO"]
synonym: "autosomal dominant intellectual disability 49" EXACT []
synonym: "autosomal dominant mental retardation 49" EXACT []
synonym: "Baraitser Syndrome" EXACT []
synonym: "CLABARS" EXACT []
synonym: "MRD49" EXACT []
synonym: "TRIP12-RELATED CONDITION" EXACT []
xref: GARD:13584
xref: MESH:C536208
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9970 ! obesity

[Term]
id: DOID:0080235
name: autosomal dominant intellectual developmental disorder 48
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28886345/ "DO"]
synonym: "autosomal dominant mental retardation 48" EXACT []
synonym: "MRD48" EXACT []
xref: EFO:0009156
xref: MIM:617751
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0080236
name: autosomal dominant intellectual developmental disorder 45
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28288114/ "DO"]
synonym: "autosomal dominant mental retardation 45" EXACT []
synonym: "CIC-RELATED CONDITION" EXACT []
synonym: "MRD45" EXACT []
xref: MIM:617600
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0080237
name: autosomal dominant intellectual developmental disorder 46
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28669405/ "DO"]
synonym: "autosomal dominant mental retardation 46" EXACT []
synonym: "KCNQ5-RELATED CONDITION" EXACT []
synonym: "MRD46" EXACT []
xref: MIM:617601
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0080238
name: autosomal dominant intellectual developmental disorder 47
def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28119487/ "DO"]
synonym: "autosomal dominant mental retardation 47" EXACT []
synonym: "MRD47" EXACT []
synonym: "STAG1-related disorder" BROAD []
synonym: "STAG1-related disorders" BROAD []
xref: EFO:0009078
xref: MIM:617635
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder

[Term]
id: DOID:0080239
name: autosomal recessive intellectual developmental disorder 61
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27612186 "DO", https://www.omim.org/entry/617773 "DO"]
synonym: "Alwadei syndrome" EXACT []
synonym: "autosomal recessive mental retardation 61" EXACT []
synonym: "MRT61" EXACT []
xref: MIM:617773
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder

[Term]
id: DOID:0080240
name: non-syndromic X-linked intellectual disability 106
def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28302723/ "DO", https://pubmed.ncbi.nlm.nih.gov/28584052/ "DO"]
synonym: "MRX106" EXACT []
synonym: "XLID106" EXACT []
synonym: "X-linked intellectual developmental disorder 106" EXACT []
synonym: "X-linked mental retardation 106" EXACT []
xref: MIM:300997
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability

[Term]
id: DOID:0080241
name: syndromic X-linked intellectual disability 35
def: "A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26290468/ "DO"]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 35" EXACT []
synonym: "INTELLECTUAL DISABILITY, X-LINKED, SYNDROMIC, 35" EXACT []
synonym: "MRXS35" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder 35" EXACT []
synonym: "syndromic X-linked mental retardation 35" EXACT []
xref: MIM:300998
xref: MONDO:0030908
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0080242
name: syndromic X-linked mental retardation Hough type
def: "A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28098945/ "DO"]
synonym: "Houge-type X-linked syndromic mental retardation" EXACT []
synonym: "intellectual developmental disorder, X-linked, syndromic, Houge type" EXACT []
synonym: "MRXSHG" EXACT []
xref: MIM:301008
is_a: DOID:0060309 ! syndromic X-linked intellectual disability

[Term]
id: DOID:0080243
name: amelogenesis imperfecta type 3B
def: "An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27412008/ "DO"]
synonym: "AI3B" EXACT []
xref: MIM:617607
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111721 ! amelogenesis imperfecta type 3

[Term]
id: DOID:0080244
name: Galloway-Mowat syndrome 2
def: "A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28805828/ "DO"]
synonym: "Galloway-Mowat syndrome 2, X-linked" EXACT []
synonym: "GAMOS2" EXACT []
xref: MIM:301006
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0080694 ! Galloway-Mowat syndrome

[Term]
id: DOID:0080245
name: Galloway-Mowat syndrome 3
def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28805828/ "DO"]
synonym: "GAMOS3" EXACT []
xref: MIM:617729
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080694 ! Galloway-Mowat syndrome

[Term]
id: DOID:0080246
name: Galloway-Mowat syndrome 4
def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28805828/ "DO"]
synonym: "GAMOS4" EXACT []
xref: MIM:617730
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080694 ! Galloway-Mowat syndrome

[Term]
id: DOID:0080247
name: Galloway-Mowat syndrome 5
def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28805828/ "DO"]
synonym: "GAMOS5" EXACT []
xref: MIM:617731
is_a: DOID:0080694 ! Galloway-Mowat syndrome

[Term]
id: DOID:0080248
name: erythrokeratodermia variabilis et progressiva 2
def: "An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12648223/ "DO"]
synonym: "EKVP2" EXACT []
xref: MIM:617524
is_a: DOID:0050467 ! erythrokeratodermia variabilis
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0080249
name: erythrokeratodermia variabilis et progressiva 3
def: "An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25398053/ "DO"]
synonym: "MIM:617525" EXACT []
is_a: DOID:0050467 ! erythrokeratodermia variabilis
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0080250
name: erythrokeratodermia variabilis et progressiva 4
def: "An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28575652/ "DO"]
synonym: "EKVP4" EXACT []
xref: MIM:617526
is_a: DOID:0050467 ! erythrokeratodermia variabilis
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080251
name: erythrokeratodermia variabilis et progressiva 5
def: "An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27965375/ "DO"]
synonym: "EKVP5" EXACT []
xref: MIM:617756
is_a: DOID:0050467 ! erythrokeratodermia variabilis
is_a: DOID:0050737 ! autosomal recessive disease
created_by: rgd
creation_date: 2018-01-23T10:17:39Z

[Term]
id: DOID:0080252
name: spastic ataxia 8
def: "A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28575651/ "DO"]
synonym: "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" EXACT []
synonym: "SPAX8" EXACT []
xref: MIM:617560
xref: MONDO:0033043
xref: ORDO:527497
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050952 ! spastic ataxia
is_a: DOID:10579 ! leukodystrophy

[Term]
id: DOID:0080253
name: Meckel syndrome 13
def: "A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26123494/ "DO"]
synonym: "Meckel syndrome, type 13" EXACT []
synonym: "MKS13" EXACT []
xref: MIM:617562
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050778 ! Meckel syndrome
is_a: DOID:0080322 ! polycystic kidney disease
is_a: DOID:1148 ! polydactyly
is_a: DOID:9000983 ! Encephalocele

[Term]
id: DOID:0080254
name: orofaciodigital syndrome XVI
def: "An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26518474/ "DO"]
synonym: "OFD16" EXACT []
synonym: "OFDS XVI" EXACT []
synonym: "oral-facial-digital syndrome, type XVI" EXACT []
xref: MIM:617563
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4501 ! orofaciodigital syndrome

[Term]
id: DOID:0080255
name: Meier-Gorlin syndrome 8
def: "A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12. (DO)" [https://www.omim.org/entry/617564 "DO"]
synonym: "MGORS8" EXACT []
xref: MIM:617564
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060306 ! Meier-Gorlin syndrome

[Term]
id: DOID:0080256
name: Perrault syndrome 6
def: "A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28449065/ "DO"]
synonym: "PRLTS6" EXACT []
xref: MIM:617565
is_a: DOID:0050857 ! Perrault syndrome

[Term]
id: DOID:0080257
name: autosomal recessive congenital ichthyosis 13
def: "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28369735/ "DO"]
synonym: "ARCI13" EXACT []
synonym: "SDR9C7-RELATED CONDITION" EXACT []
xref: MIM:617574
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:0080258
name: autosomal recessive congenital ichthyosis 14
def: "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28575648/ "DO"]
synonym: "ARCI14" EXACT []
xref: MIM:617571
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:0080259
name: autosomal recessive spinocerebellar ataxia 25
alt_id: DOID:9008646
def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26812546 "DO"]
synonym: "SCAR25" EXACT []
xref: MIM:617584
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0080260
name: autosomal recessive spinocerebellar ataxia 26
def: "An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28002403 "DO"]
synonym: "SCAR26" EXACT []
xref: MIM:617633
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0080261
name: autosomal recessive nonsyndromic deafness 106
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26282398/ "DO"]
synonym: "autosomal recessive deafness 106" EXACT []
synonym: "DFNB106" EXACT []
xref: MIM:617637
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0080262
name: autosomal recessive nonsyndromic deafness 107
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26881968/ "DO"]
synonym: "autosomal recessive deafness 107" EXACT []
synonym: "DFNB107" EXACT []
xref: MIM:617639
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0080263
name: autosomal recessive nonsyndromic deafness 108
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27162350/ "DO"]
synonym: "autosomal recessive deafness 108" EXACT []
synonym: "DFNB108" EXACT []
xref: MIM:617654
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0080264
name: exudative vitreoretinopathy 7
def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28575650 "DO"]
synonym: "EVR7" EXACT []
xref: MIM:617572
is_a: DOID:0050535 ! exudative vitreoretinopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0080265
name: nephrotic syndrome type 14
def: "A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28165343 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30683667 "DO", https://www.omim.org/entry/617575 "DO"]
synonym: "nephrotic syndrome 14" EXACT []
synonym: "NPHS14" EXACT []
synonym: "sphingosine phosphate lyase insufficiency syndrome" EXACT []
synonym: "SPLIS" EXACT []
xref: MIM:617575
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080266
name: primary ciliary dyskinesia 37
def: "A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25927852/ "DO"]
xref: MIM:617577
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0080267
name: autosomal dominant nonsyndromic deafness 71
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27657680/ "DO"]
synonym: "autosomal dominant deafness 71" EXACT []
synonym: "DFNA71" EXACT []
xref: MIM:617605
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0080268
name: autosomal dominant nonsyndromic deafness 72
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28013291/ "DO"]
synonym: "autosomal dominant deafness 72" EXACT []
synonym: "DFNA72" EXACT []
xref: MIM:617606
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0080269
name: autosomal dominant nonsyndromic deafness 73
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29309402/ "DO"]
synonym: "autosomal dominant deafness 73" EXACT []
synonym: "DFNA73" EXACT []
xref: MIM:617663
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0080270
name: autosomal dominant nonsyndromic deafness 34
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28847925/ "DO"]
synonym: "autosomal dominant deafness 34 with or without inflammation" EXACT []
synonym: "DFNA34" EXACT []
xref: MIM:617772
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0080271
name: nephrotic syndrome type 15
def: "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27932480 "DO"]
synonym: "nephrotic syndrome 15" EXACT []
synonym: "NPHS15" EXACT []
xref: MIM:617609
xref: MONDO:0033262
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080272
name: nephrotic syndrome type 16
def: "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25961457 "DO"]
synonym: "nephrotic syndrome 16" EXACT []
synonym: "NPHS16" EXACT []
xref: MIM:617783
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080273
name: polycystic kidney disease 5
def: "A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22. (DO)" [https://www.omim.org/entry/617610 "DO"]
synonym: "PKD5" EXACT []
xref: MIM:617610
is_a: DOID:0110861 ! autosomal recessive polycystic kidney disease

[Term]
id: DOID:0080274
name: multiple mitochondrial dysfunctions syndrome 5
def: "A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28356563 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29623423 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31016283 "DO", https://www.omim.org/entry/617613 "DO"]
synonym: "MMDS5" EXACT []
xref: MIM:617613
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome

[Term]
id: DOID:0080275
name: Joubert syndrome 30
def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28625504/ "DO"]
synonym: "ARMC9-related Joubert syndrome" EXACT []
synonym: "JBTS30" EXACT []
xref: MIM:617622
is_a: DOID:0050777 ! Joubert syndrome

[Term]
id: DOID:0080276
name: Joubert syndrome 29
def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26595381/ "DO"]
is_a: DOID:0050777 ! Joubert syndrome

[Term]
id: DOID:0080277
name: Joubert syndrome 31
def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27208211/ "DO"]
synonym: "JBTS31" EXACT []
xref: MIM:617761
is_a: DOID:0050777 ! Joubert syndrome

[Term]
id: DOID:0080278
name: Joubert syndrome 32
def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28965847/ "DO"]
synonym: "JBTS32" EXACT []
xref: MIM:617757
is_a: DOID:0050777 ! Joubert syndrome

[Term]
id: DOID:0080279
name: Joubert syndrome 33
def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26167768/ "DO"]
synonym: "JBTS33" EXACT []
xref: MIM:617767
is_a: DOID:0050777 ! Joubert syndrome

[Term]
id: DOID:0080280
name: gingival fibromatosis 5
def: "A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28686854/ "DO"]
synonym: "GGF5" EXACT []
synonym: "GINGF5" EXACT []
synonym: "hereditary gingival fibromatosis 5" EXACT []
synonym: "HGF5" EXACT []
xref: MIM:617626
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060466 ! gingival fibromatosis

[Term]
id: DOID:0080281
name: schizophrenia 19
def: "A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28628109/ "DO"]
synonym: "schizophrenia 19, susceptibility to" RELATED []
synonym: "schizophrenia 19 with or without an affective disorder" EXACT []
synonym: "SCZD19" EXACT []
xref: MIM:617629
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:0080282
name: developmental and epileptic encephalopathy 56
def: "A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28777935 "DO"]
synonym: "DEE56" EXACT []
synonym: "early infantile epileptic encephalopathy 56" EXACT []
synonym: "EIEE56" EXACT []
xref: MIM:617665
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080283
name: developmental and epileptic encephalopathy 55
def: "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32042915/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/28334793 "DO"]
synonym: "DEE55" EXACT []
synonym: "early infantile epileptic encephalopathy 55" EXACT []
synonym: "EIEE55" EXACT []
synonym: "glycosylphosphatidylinositol biosynthesis defect 14" EXACT []
synonym: "GPIBD14" EXACT []
xref: MIM:617599
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency

[Term]
id: DOID:0080284
name: developmental and epileptic encephalopathy 57
def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29740868/ "DO", https://pubmed.ncbi.nlm.nih.gov/32038177/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29069600 "DO"]
synonym: "DEE57" EXACT []
synonym: "early infantile epileptic encephalopathy 57" EXACT []
synonym: "EIEE57" EXACT []
xref: MIM:617771
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080285
name: developmental and epileptic encephalopathy 58
def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29100083 "DO"]
synonym: "DEE58" EXACT []
synonym: "early infantile epileptic encephalopathy 58" EXACT []
synonym: "EIEE58" EXACT []
synonym: "NTRK2-RELATED CONDITION" BROAD []
xref: MIM:617830
xref: MONDO:0033367
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080286
name: spinocerebellar ataxia 44
def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28886343/ "DO"]
synonym: "GRM1-RELATED CONDITION" BROAD []
synonym: "SCA44" EXACT []
xref: MIM:617691
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0080287
name: spinocerebellar ataxia 45
def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29053796/ "DO"]
synonym: "FAT2-RELATED CONDITION" EXACT []
synonym: "SCA45" EXACT []
synonym: "spinocerebellar ataxia type 45" EXACT []
xref: MIM:617769
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0080288
name: spinocerebellar ataxia 46
def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29053796/ "DO"]
synonym: "autosomal dominant spinocerebellar ataxia 46 with sensory axonal neuropathy" EXACT []
synonym: "SCA46" EXACT []
xref: MIM:617770
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0080289
name: orofaciodigital syndrome XVII
def: "An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23459408/ "DO"]
synonym: "OFD17" EXACT []
synonym: "OFDS XVII" EXACT []
synonym: "oral-facial-digital syndrome, type XVII" EXACT []
xref: MIM:617926
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4501 ! orofaciodigital syndrome
created_by: rgd
creation_date: 2017-07-12T17:20:34Z

[Term]
id: DOID:0080290
name: familial erythrocytosis 5
def: "A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29514032 "DO"]
synonym: "ECYT5" EXACT []
xref: MIM:617907
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10780 ! primary polycythemia

[Term]
id: DOID:0080291
name: developmental and epileptic encephalopathy 59
def: "A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25262651 "DO"]
synonym: "DEE59" EXACT []
synonym: "early infantile epileptic encephalopathy 59" EXACT []
synonym: "EIEE59" EXACT []
xref: MIM:617904
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080292
name: retinitis pigmentosa 81
def: "A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28973684/ "DO"]
synonym: "RP81" EXACT []
xref: MIM:617871
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0080293
name: short-rib thoracic dysplasia 18 with polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28400947/ "DO"]
synonym: "SRTD18" EXACT []
xref: MIM:617866
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080294
name: Charcot-Marie-Tooth disease dominant intermediate G
def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28364294/ "DO"]
xref: EFO:0010267
xref: MIM:617882
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0080295
name: short-rib thoracic dysplasia 19 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27666822/ "DO"]
synonym: "short-rib thoracic dysplasia 19 without polydactyly" EXACT []
synonym: "SRTD19" EXACT []
xref: MIM:617895
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080296
name: hypomyelinating leukodystrophy 14
def: "A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28931644/ "DO"]
synonym: "HLD14" EXACT []
xref: MIM:617899
xref: MONDO:0033486
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy

[Term]
id: DOID:0080297
name: Coffin-Siris syndrome 6
def: "A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that\nhas_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28124119/ "DO"]
synonym: "ARID2-RELATED BAFOPATHY" EXACT []
synonym: "CSS6" EXACT []
xref: MIM:617808
is_a: DOID:1925 ! Coffin-Siris syndrome

[Term]
id: DOID:0080298
name: complete generalized lipodystrophy
def: "A lipodystrophy that is characterized by complete loss of adipose tissue. (DO)" [https://rarediseases.org/rare-diseases/acquired-lipodystrophy/ "DO"]
is_a: DOID:811 ! lipodystrophy

[Term]
id: DOID:0080299
name: partial lipodystrophy
alt_id: MIM:608709
def: "A lipodystrophy that is characterized by partial loss of adipose tissue. (DO)" [https://rarediseases.org/rare-diseases/acquired-lipodystrophy/ "DO"]
synonym: "APLD" EXACT []
synonym: "APLD, SUSCEPTIBILITY TO" RELATED []
synonym: "Barraquer-Simons Syndrome" EXACT []
synonym: "Lipodystrophy, Cephalothoracic Type" EXACT []
synonym: "partial lipodystrophy, acquired" EXACT []
synonym: "progressive partial lipodystrophy" EXACT []
synonym: "susceptibility to partial acquired lipodystrophy" RELATED []
xref: EFO:0020027
xref: MESH:C562448
is_a: DOID:811 ! lipodystrophy

[Term]
id: DOID:0080300
name: acquired generalized lipodystrophy
def: "A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. (DO)" [http://www.utsouthwestern.edu/media/files/2400/Generalized-Lawrence-Syndrome.pdf "DO", https://www.ncbi.nlm.nih.gov/pubmed/23287278 "DO"]
synonym: "Lawrence syndrome" EXACT []
is_a: DOID:0080298 ! complete generalized lipodystrophy

[Term]
id: DOID:0080301
name: atypical hemolytic-uremic syndrome
alt_id: MIM:235400
alt_id: MIM:612922
alt_id: MIM:612923
alt_id: MIM:612924
alt_id: MIM:612925
alt_id: MIM:612926
alt_id: OMIA:000636
def: "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. (DO)" [https://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome#sourcesforpage "DO", https://rarediseases.info.nih.gov/diseases/8702/index#ref_2575 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29226095 "DO"]
synonym: "AHUS1" RELATED []
synonym: "AHUS2" RELATED []
synonym: "AHUS3" RELATED []
synonym: "AHUS4" RELATED []
synonym: "AHUS5" RELATED []
synonym: "AHUS6" RELATED []
synonym: "AHUS, susceptibility to, 1" RELATED []
synonym: "AHUS, susceptibility to, 2" RELATED []
synonym: "AHUS, susceptibility to, 3" RELATED []
synonym: "AHUS, susceptibility to, 4" RELATED []
synonym: "AHUS, susceptibility to, 5" RELATED []
synonym: "AHUS, susceptibility to, 6" RELATED []
synonym: "atypical hemolytic-uremic syndromes" EXACT []
synonym: "atypical hemolytic uremic syndrome, susceptibility to" RELATED []
synonym: "atypical hemolytic uremic syndrome, susceptibility to, 1" RELATED []
synonym: "atypical hemolytic uremic syndrome, susceptibility to, 2" RELATED []
synonym: "atypical hemolytic uremic syndrome, susceptibility to, 3" RELATED []
synonym: "atypical hemolytic uremic syndrome, susceptibility to, 4" RELATED []
synonym: "atypical hemolytic uremic syndrome, susceptibility to, 5" RELATED []
synonym: "atypical hemolytic uremic syndrome, susceptibility to, 6" RELATED []
synonym: "atypical hemolytic uremic syndrome, susceptibility to, 7" RELATED []
synonym: "CD46-RELATED CONDITION" EXACT []
synonym: "FAMILIAL ATYPICAL HEMOLYTIC-UREMIC SYNDROME" EXACT []
synonym: "Nonenteropathic HUS" EXACT []
synonym: "Non Shiga Like Toxin Associated HUS" EXACT []
synonym: "Non Stx Hus" EXACT []
xref: GARD:8702
xref: MESH:D065766
xref: MIM:PS235400
xref: ORDO:2134
is_a: DOID:12554 ! hemolytic-uremic syndrome
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:0080302
name: mixed sleep apnea
def: "A sleep apnea that is characterized by a combination of central and obstructive sleep apnea. (DO)" [https://en.wikipedia.org/wiki/Sleep_apnea#Mixed_apnea "DO", https://www.ncbi.nlm.nih.gov/pubmed/26681187 "DO"]
synonym: "complex sleep apnea" EXACT []
synonym: "mixed central and obstructive sleep apnea" EXACT []
synonym: "mixed sleep apneas" EXACT []
is_a: DOID:0050847 ! sleep apnea

[Term]
id: DOID:0080303
name: mucinous lung adenocarcinoma
def: "A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15628896 "DO"]
is_a: DOID:3030 ! mucinous adenocarcinoma
is_a: DOID:3910 ! lung adenocarcinoma

[Term]
id: DOID:0080304
name: lung mucinous cystadenocarcinoma
def: "A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue. (DO)" [https://en.wikipedia.org/wiki/Mucinous_cystadenocarcinoma_of_the_lung "DO", https://www.ncbi.nlm.nih.gov/pubmed/14602331 "DO"]
is_a: DOID:3603 ! mucinous cystadenocarcinoma
is_a: DOID:3910 ! lung adenocarcinoma

[Term]
id: DOID:0080305
name: signet ring lung adenocarcinoma
def: "A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16463270 "DO"]
xref: EFO:1000338
is_a: DOID:3493 ! signet ring cell adenocarcinoma
is_a: DOID:3910 ! lung adenocarcinoma

[Term]
id: DOID:0080306
name: solid adenocarcinoma with mucin production
def: "A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16463270 "DO"]
is_a: DOID:3910 ! lung adenocarcinoma

[Term]
id: DOID:0080307
name: myofibrillar myopathy
def: "A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles. (DO)" [https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy "DO", https://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/23995273 "DO"]
synonym: "myofibrillar myopathies" EXACT []
synonym: "myofibrillar myopathy, dominant" NARROW []
xref: GARD:10529
xref: MESH:C580316
xref: MIM:PS601419
xref: NCI:C83009
is_a: DOID:422 ! congenital structural myopathy
is_a: DOID:423 ! myopathy

[Term]
id: DOID:0080308
name: myofibrillar myopathy 8
def: "A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12. (DO)" [https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy "DO", https://www.omim.org/entry/617258 "DO"]
synonym: "MFM8" EXACT []
xref: MIM:617258
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080307 ! myofibrillar myopathy
created_by: mtutaj
creation_date: 2018-06-19T00:00:00Z

[Term]
id: DOID:0080309
name: fatal infantile hypertonic myofibrillar myopathy
def: "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23995273 "DO", https://www.omim.org/entry/613869 "DO"]
synonym: "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT []
synonym: "MFM, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related" EXACT []
xref: MIM:613869
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080307 ! myofibrillar myopathy
created_by: mtutaj
creation_date: 2018-06-19T00:00:00Z

[Term]
id: DOID:0080311
name: X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
alt_id: MIM:300486
def: "A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16158428 "DO"]
synonym: "MRX60" EXACT []
synonym: "OPHN1-RELATED CONDITION" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Billuart type" EXACT []
synonym: "X-linked mental retardation 60" EXACT []
xref: MESH:C537456
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
created_by: rgd
creation_date: 2018-07-05T00:00:00Z

[Term]
id: DOID:0080312
name: neurodevelopmental disorder with midbrain and hindbrain malformations
def: "A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28453519 "DO"]
synonym: "NEDMHM" EXACT []
xref: MIM:617523
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050888 ! syndromic intellectual disability
is_a: DOID:9006534 ! Nervous System Malformations
created_by: rgd
creation_date: 2018-07-05T00:00:00Z

[Term]
id: DOID:0080313
name: cleft palate-lateral synechia syndrome
alt_id: MIM:119550
def: "A physical disorder that is characterized by fusion of maxilla and mandible. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24163560 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016 "DO"]
synonym: "CPLS Syndrome" EXACT []
synonym: "syngnathia" EXACT []
xref: MESH:C563047
xref: ORDO:2016
is_a: DOID:0080015 ! physical disorder
is_a: DOID:225 ! syndrome
is_a: DOID:9000066 ! Jaw Abnormalities
is_a: DOID:9001018 ! Mouth Abnormalities
created_by: rgd
creation_date: 2018-07-05T00:00:00Z

[Term]
id: DOID:0080314
name: cone-rod dystrophy 14
alt_id: MIM:602093
def: "A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28125083 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9425234 "DO"]
synonym: "COD3" EXACT []
synonym: "cone dystrophy 3" EXACT []
synonym: "CORD14" EXACT []
xref: MESH:C566579
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa
created_by: rgd
creation_date: 2018-07-05T00:00:00Z

[Term]
id: DOID:0080315
name: megalencephalic leukoencephalopathy with subcortical cysts
def: "A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. (DO)" [https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts "DO"]
synonym: "infantile leukoencephalopathy and megalencephaly" EXACT []
synonym: "leukoencephalopathy with swelling and a discrepantly mild course" EXACT []
synonym: "leukoencephalopathy with swelling and cysts" EXACT []
synonym: "LVM" EXACT []
synonym: "megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome" EXACT []
synonym: "megalencephaly-cystic leukodystrophy" EXACT []
synonym: "vacuolating leukoencephalopathy" EXACT []
synonym: "vacuolating megalencephalic leukoencephalopathy with subcortical cysts" EXACT []
synonym: "Van Der Knapp disease" EXACT []
synonym: "VL" EXACT []
xref: GARD:3445
xref: MESH:C536141
xref: MIM:PS604004
xref: ORDO:2478
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:9007583 ! Cysts
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases
created_by: rgd
creation_date: 2018-07-05T00:00:00Z

[Term]
id: DOID:0080316
name: megalencephalic leukoencephalopathy with subcortical cysts 1
def: "A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21419380 "DO"]
synonym: "MLC1" EXACT []
synonym: "Van Der Knaap disease" EXACT []
xref: MIM:604004
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts
created_by: rgd
creation_date: 2018-07-05T00:00:00Z

[Term]
id: DOID:0080317
name: megalencephalic leukoencephalopathy with subcortical cysts 2B
def: "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20517947 "DO"]
synonym: "HEPACAM-RELATED CONDITION" BROAD []
synonym: "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT" NARROW []
synonym: "MLC2B" EXACT []
synonym: "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with mental retardation" NARROW []
synonym: "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without impaired intellectual development" EXACT []
synonym: "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without intellectual disability" EXACT []
synonym: "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without mental retardation" EXACT []
xref: MIM:613926
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts
is_a: DOID:1059 ! intellectual disability
created_by: rgd
creation_date: 2018-07-05T00:00:00Z

[Term]
id: DOID:0080318
name: megalencephalic leukoencephalopathy with subcortical cysts 2A
def: "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20517947 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21419380 "DO"]
synonym: "HEPACAM-RELATED CONDITION" BROAD []
synonym: "MLC2A" EXACT []
xref: MIM:613925
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts
created_by: rgd
creation_date: 2018-07-05T00:00:00Z

[Term]
id: DOID:0080319
name: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
def: "A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia#genes "DO", https://meshb.nlm.nih.gov/record/ui?ui=C536288 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=317476 "DO"]
synonym: "MAGT1-RELATED CONDITION" BROAD []
synonym: "XMEN" EXACT []
xref: MIM:300853
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:14566 ! disease of cellular proliferation
is_a: DOID:2938 ! Epstein-Barr virus infectious disease
is_a: DOID:417 ! autoimmune disease
is_a: DOID:614 ! lymphopenia
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: rgd
creation_date: 2018-07-05T00:00:00Z

[Term]
id: DOID:0080320
name: peripheral nervous system benign neoplasm
def: "A central nervous system benign neoplasm the is located_in the peripheral nervous system. (DO)" [https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors-benign/symptoms-causes/syc-20368680 "DO"]
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:0060115 ! nervous system benign neoplasm
is_a: DOID:1192 ! peripheral nervous system neoplasm

[Term]
id: DOID:0080321
name: autonomic nervous system benign neoplasm
def: "A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system. (DO)" [https://en.wikipedia.org/wiki/Autonomic_nervous_system "DO"]
is_a: DOID:0080320 ! peripheral nervous system benign neoplasm

[Term]
id: DOID:0080322
name: polycystic kidney disease
alt_id: OMIA:000807
def: "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure. (DO)" [https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/what-is-pkd "DO"]
synonym: "Microcystic Renal Disease" NARROW []
synonym: "polycystic kidney" EXACT []
synonym: "polycystic kidney disease, adult type" NARROW []
synonym: "polycystic kidney diseases" EXACT []
synonym: "polycystic kidneys" EXACT []
synonym: "polycystic renal disease" EXACT []
synonym: "polycystic renal diseases" EXACT []
xref: EFO:0008620
xref: EFO:0008621
xref: MESH:D007690
xref: MIM:PS173900
xref: NCI:C75464
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0080323
name: pancreatic squamous cell carcinoma
def: "A squamous cell carcinoma located in the pancreas. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437439/ "DO"]
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:1793 ! pancreatic cancer

[Term]
id: DOID:0080324
name: tuberous sclerosis 1
alt_id: MIM:191100
def: "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34. (DO)" [https://www.omim.org/entry/191100 "DO"]
synonym: "TSC1" EXACT []
xref: MESH:C565346
xref: NCI:C75122
is_a: DOID:13515 ! tuberous sclerosis

[Term]
id: DOID:0080325
name: tuberous sclerosis 2
alt_id: MIM:613254
def: "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28667702 "DO", https://www.omim.org/entry/613254 "DO"]
synonym: "TSC2" EXACT []
synonym: "TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF" NARROW []
xref: MESH:C566021
xref: NCI:C75331
is_a: DOID:13515 ! tuberous sclerosis

[Term]
id: DOID:0080326
name: familial hypertrophic cardiomyopathy
def: "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. (DO)" [https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes "DO"]
synonym: "CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL" NARROW []
synonym: "familial asymmetric septal hypertrophy" EXACT []
synonym: "familial hypertrophic cardiomyopathies" EXACT []
synonym: "familial ventricular hypertrophies" EXACT []
synonym: "familial ventricular hypertrophy" EXACT []
synonym: "hereditary ventricular hypertrophies" EXACT []
synonym: "hereditary ventricular hypertrophy" EXACT []
synonym: "hypertrophic cardiomyopathy, mitochondrial" NARROW []
synonym: "obstructive asymmetric septal hypertrophy" EXACT []
synonym: "primary familial hypertrophic cardiomyopathy" EXACT []
xref: MESH:D024741
xref: MIM:PS192600
xref: NCI:C84773
xref: ORDO:217569
is_a: DOID:11984 ! hypertrophic cardiomyopathy
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0080327
name: multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
def: "A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/?term=28264986 "DO"]
synonym: "MARCH" EXACT []
xref: MIM:236500
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0080328
name: Culler-Jones syndrome
def: "A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/?term=29298444 "DO"]
synonym: "CJS" EXACT []
synonym: "GLI2-RELATED CONDITION" BROAD []
synonym: "GLI2-RELATED DISORDER" BROAD []
synonym: "Pallister-Hall syndrome 2" EXACT []
synonym: "PHS2" EXACT []
xref: GARD:13349
xref: MIM:615849
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1148 ! polydactyly
is_a: DOID:9248 ! Pallister-Hall syndrome
is_a: DOID:9406 ! hypopituitarism

[Term]
id: DOID:0080329
name: cold-induced sweating syndrome 1
def: "A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK52917/ "DO"]
synonym: "CISS1" EXACT []
synonym: "Crisponi/cold-induced sweating syndrome 1" EXACT []
synonym: "tetanoform muscle contractions with characteristic face, camptodactyly, hyperthermia, and sudden death" EXACT []
xref: MIM:272430
xref: NCI:C173147
is_a: DOID:0060294 ! cold-induced sweating syndrome

[Term]
id: DOID:0080330
name: cold-induced sweating syndrome 2
def: "A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20400119 "DO"]
synonym: "CISS2" EXACT []
synonym: "Crisponi/cold-induced sweating syndrome 2" EXACT []
xref: MIM:610313
xref: NCI:C173148
is_a: DOID:0060294 ! cold-induced sweating syndrome

[Term]
id: DOID:0080331
name: cold-induced sweating syndrome 3
def: "A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27392078 "DO"]
synonym: "CISS3" EXACT []
synonym: "Crisponi/cold-induced sweating syndrome 3" EXACT []
synonym: "KLHL7-RELATED CONDITION" BROAD []
synonym: "PERCHING" EXACT []
synonym: "PERCHING syndrome" EXACT []
xref: MIM:617055
is_a: DOID:0060294 ! cold-induced sweating syndrome

[Term]
id: DOID:0080332
name: bicuspid aortic valve disease
def: "An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. (DO)" [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402075 "DO"]
synonym: "BAV" EXACT []
synonym: "bicuspid aortic valve" EXACT []
synonym: "familial bicuspid aortic valve" EXACT []
xref: MESH:D000082882
xref: MIM:PS109730
xref: ORDO:402075
is_a: DOID:62 ! aortic valve disease

[Term]
id: DOID:0080333
name: aortic valve disease 1
def: "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23388002 "DO"]
synonym: "AOVD1" EXACT []
synonym: "calcific aortic stenosis" RELATED []
synonym: "calcific aortic valve disease" RELATED []
synonym: "calcification of aortic valve" RELATED []
synonym: "NOTCH1-RELATED CONDITION" BROAD []
synonym: "NOTCH1-RELATED DISORDER" BROAD []
xref: MIM:109730
xref: MONDO:0024523
xref: NCI:C128803
xref: NCI:C192088
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080332 ! bicuspid aortic valve disease
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9004397 ! Calcification of Aortic Valve

[Term]
id: DOID:0080334
name: aortic valve disease 2
def: "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22275001 "DO"]
synonym: "aortic valve stenosis" RELATED []
synonym: "AOVD2" EXACT []
synonym: "bicommissural aortic valve" EXACT []
xref: MIM:614823
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080332 ! bicuspid aortic valve disease

[Term]
id: DOID:0080335
name: mitochondrial DNA depletion syndrome 12b
def: "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. (DO)" [https://ghr.nlm.nih.gov/gene/SLC25A4#conditions "DO", https://www.ncbi.nlm.nih.gov/pubmed/22187496 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27693233 "DO", https://www.omim.org/entry/615418 "DO"]
synonym: "autosomal recessive mitochondrial DNA depletion syndrome-12B" EXACT []
synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR" EXACT []
synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" EXACT []
synonym: "MTDPS12B" EXACT []
xref: MIM:615418
xref: ORDO:1369
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:699 ! mitochondrial myopathy

[Term]
id: DOID:0080336
name: mitochondrial DNA depletion syndrome 14
def: "A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26561570 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28494813 "DO", https://www.omim.org/entry/616896 "DO"]
synonym: "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" EXACT []
synonym: "mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)" EXACT []
synonym: "MTDPS14" EXACT []
xref: MIM:616896
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:699 ! mitochondrial myopathy
is_a: DOID:890 ! mitochondrial encephalomyopathy

[Term]
id: DOID:0080337
name: mitochondrial DNA depletion syndrome 15
alt_id: RDO:9001295
def: "A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21. (DO)" [https://ghr.nlm.nih.gov/gene/TFAM#conditions "DO", https://www.ncbi.nlm.nih.gov/pubmed/27448789 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO", https://www.omim.org/entry/617156 "DO"]
synonym: "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" EXACT []
synonym: "MTDPS15" EXACT []
xref: MIM:617156
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:13413 ! hepatic encephalopathy
is_a: DOID:699 ! mitochondrial myopathy

[Term]
id: DOID:0080338
name: familial erythrocytosis 3
alt_id: MIM:609820
def: "A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16407130 "DO"]
synonym: "ECYT3" EXACT []
xref: MESH:C565221
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10780 ! primary polycythemia

[Term]
id: DOID:0080339
name: familial erythrocytosis 4
alt_id: MIM:611783
def: "A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18184961 "DO"]
synonym: "ECYT4" EXACT []
xref: MESH:C567086
is_a: DOID:10780 ! primary polycythemia

[Term]
id: DOID:0080342
name: Simpson-Golabi-Behmel syndrome type 2
alt_id: MIM:300209
def: "A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16783569 "DO"]
synonym: "SGBS2" EXACT []
xref: MESH:C564567
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0080343
name: autosomal recessive pyridoxine-refractory sideroblastic anemia 3
alt_id: RDO:9000362
def: "A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. (DO)" [https://www.omim.org/entry/616860?search=616860&highlight=616860 "DO"]
synonym: "pyridoxine-refractory sideroblastic anemia 3" EXACT []
synonym: "SIDBA3" EXACT []
synonym: "sideroblastic anemia-3" EXACT []
xref: MIM:616860
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:8955 ! sideroblastic anemia

[Term]
id: DOID:0080344
name: blepharocheilodontic syndrome
def: "A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28301459 "DO"]
synonym: "Blepharo-Cheilo-Dontic Syndrome" EXACT []
synonym: "blepharo-cheilo-odontic syndrome" EXACT []
synonym: "Clefting, ectropion, and conical teeth" EXACT []
synonym: "ECTROPION INFERIOR CLEFT LIP AND OR PALATE" EXACT []
synonym: "Elschnig syndrome" EXACT []
synonym: "lagophthalmia with bilateral cleft lip and palate" EXACT []
xref: MESH:C536188
xref: MIM:PS119580
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1570 ! ectropion
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9004934 ! BILATERAL CLEFT LIP
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:0080345
name: blepharocheilodontic syndrome 1
alt_id: RDO:9005143
def: "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28301459 "DO"]
synonym: "BCDS1" EXACT []
xref: MIM:119580
is_a: DOID:0080344 ! blepharocheilodontic syndrome

[Term]
id: DOID:0080346
name: blepharocheilodontic syndrome 2
def: "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28301459 "DO"]
synonym: "BCDS2" EXACT []
xref: MIM:617681
is_a: DOID:0080344 ! blepharocheilodontic syndrome

[Term]
id: DOID:0080347
name: malignant pheochromocytoma
def: "An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. (DO)" [https://www.omim.org/entry/171300 "DO"]
xref: EFO:1000348
xref: ICDO:8700/3
is_a: DOID:0050771 ! pheochromocytoma
is_a: DOID:5719 ! adrenal medulla cancer

[Term]
id: DOID:0080348
name: Alzheimer's disease 1
alt_id: DOID:9005726
def: "An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. (DO)" [https://www.omim.org/entry/104300?search=104300&highlight=104300 "DO"]
synonym: "AD1" EXACT []
synonym: "Alzheimer's disease 1, early onset" EXACT []
synonym: "Alzheimer's Disease, Familial, 1" NARROW []
synonym: "Alzheimer's Disease Type 1" EXACT []
synonym: "Alzheimer disease 1" EXACT []
synonym: "Alzheimer disease type 1" EXACT []
synonym: "APP POLYMORPHISM" RELATED []
synonym: "APP-RELATED CONDITION" BROAD []
synonym: "early-onset familial form of Alzheimer disease" EXACT []
xref: MESH:C536594
xref: MIM:104300
xref: MONDO:0007088
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0080349
name: developmental and epileptic encephalopathy 39
alt_id: MIM:612949
def: "A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19641205/ "DO", https://pubmed.ncbi.nlm.nih.gov/24515575/ "DO", https://www.omim.org/entry/612949?search=612949 "DO"]
synonym: "AGC1 deficiency" EXACT []
synonym: "aspartate-glutamate carrier 1 deficiency" EXACT []
synonym: "DEE39" EXACT []
synonym: "early infantile epileptic encephalopathy 39" EXACT []
synonym: "EIEE39" EXACT []
synonym: "epileptic encephalopathy with global cerebral demyelination" EXACT []
synonym: "global cerebral hypomyelination" EXACT []
synonym: "mitochondrial aspartate-glutamate carrier 1 deficiency" EXACT []
xref: MESH:C567847
xref: ORDO:353217
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases

[Term]
id: DOID:0080350
name: retinitis pigmentosa 77
def: "A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13. (DO)" [https://www.omim.org/entry/617304 "DO"]
synonym: "REEP6-RELATED CONDITION" EXACT []
synonym: "RP77" EXACT []
xref: MIM:617304
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0080351
name: CLOVES syndrome
alt_id: MIM:612918
def: "A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25209813 "DO"]
synonym: "Clove Syndrome" EXACT []
synonym: "Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi" EXACT []
synonym: "Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal-Spinal Abnormalities" EXACT []
xref: GARD:10939
xref: ICD10CM:Q87.3
xref: MESH:C567863
xref: ORDO:140944
is_a: DOID:225 ! syndrome
is_a: DOID:3315 ! lipoma
is_a: DOID:9002969 ! Nevus
is_a: DOID:9003191 ! Vascular Malformations
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:0080352
name: X-linked chondrodysplasia punctata 2
def: "A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2 "DO"]
synonym: "atypical X-linked dominant chondrodysplasia punctata 2" NARROW []
synonym: "CDPX2" EXACT []
synonym: "CDPXD" EXACT []
synonym: "Conradi-Hunermann-Happle Syndrome" EXACT []
synonym: "Conradi Hunermann Syndrome" EXACT []
synonym: "Conradi Hünermann Happle syndrome" EXACT []
synonym: "Conradi Hünermann Syndrome" EXACT []
synonym: "CPXD" EXACT []
synonym: "Happle syndrome" EXACT []
synonym: "X-linked dominant chondrodysplasia punctata 2" EXACT []
xref: MIM:302960
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:2581 ! chondrodysplasia punctata

[Term]
id: DOID:0080353
name: X-linked recessive hypophosphatemic rickets
def: "A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets "DO"]
xref: MIM:300554
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets

[Term]
id: DOID:0080354
name: Phelan-McDermid syndrome
alt_id: MIM:606232
def: "A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. (DO)" [https://en.wikipedia.org/wiki/22q13_deletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1198/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29719671 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29896732 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30089781 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48652 "DO"]
synonym: "22q13.3 deletion syndrome" EXACT []
synonym: "22q13 deletion syndrome" EXACT []
synonym: "chromosome 22q13.3 deletion syndrome" EXACT []
synonym: "monosomy 22q13" EXACT []
synonym: "monosomy 22q13 syndrome" EXACT []
synonym: "PHMDS" EXACT []
synonym: "SHANK3-RELATED CONDITION" BROAD []
synonym: "SHANK3-related disorder" BROAD []
synonym: "telomeric 22q13 monosomy syndrome" EXACT []
xref: GARD:10130
xref: MESH:C536801
xref: NCI:C157124
xref: ORDO:48652
is_a: DOID:0060388 ! chromosomal deletion syndrome

[Term]
id: DOID:0080355
name: hepatobiliary system cancer
def: "A gastrointestinal system cancer that is located_in the hepatobiliary system. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461147/ "DO"]
xref: EFO:0008550
is_a: DOID:3119 ! gastrointestinal system cancer

[Term]
id: DOID:0080356
name: IgG4-related disease
def: "An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs. (DO)" [https://rarediseases.info.nih.gov/diseases/12521/index "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4760655/ "DO", https://www.nejm.org/doi/full/10.1056/NEJMra1104650 "DO"]
xref: GARD:12521
xref: NCI:C95992
xref: ORDO:284264
is_a: DOID:417 ! autoimmune disease

[Term]
id: DOID:0080357
name: mitochondrial complex IV deficiency nuclear type 2
alt_id: MIM:604377
def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10746561/ "DO"]
synonym: "CEMCOX1" EXACT []
synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1" EXACT []
synonym: "fatal infantile cytochrome c oxidase deficiency with cardioencephalomyopathy" EXACT []
synonym: "MC4DN2" EXACT []
xref: MESH:C565784
is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080358
name: mitochondrial complex IV deficiency nuclear type 6
def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10545952/ "DO"]
synonym: "CEMCOX2" EXACT []
synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2" EXACT []
synonym: "MC4DN6" EXACT []
xref: MIM:615119
is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080359
name: mitochondrial complex IV deficiency nuclear type 9
def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12928484/ "DO"]
synonym: "CEMCOX3" EXACT []
synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-3" EXACT []
synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3" EXACT []
synonym: "MC4DN9" EXACT []
xref: MIM:616500
is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080360
name: mitochondrial complex IV deficiency nuclear type 13
def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25339201/ "DO"]
synonym: "CEMCOX4" EXACT []
synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-4" EXACT []
synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4" EXACT []
synonym: "MC4DN13" EXACT []
xref: MIM:616501
is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080361
name: trimethylaminuria
alt_id: MIM:602079
def: "An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24. (DO)" [https://ghr.nlm.nih.gov/condition/trimethylaminuria "DO", https://www.genome.gov/Genetic-Disorders/Trimethylaminuria "DO"]
synonym: "fish malodor syndrome" EXACT []
synonym: "fish odor syndrome" EXACT []
synonym: "stale fish syndrome" EXACT []
synonym: "TMAU" EXACT []
synonym: "TMAuria" EXACT []
xref: GARD:6447
xref: MESH:C536561
xref: ORDO:468726
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0080362
name: X-linked spondyloepiphyseal dysplasia tarda
def: "A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda "DO"]
synonym: "SEDT" EXACT []
synonym: "SED tarda" EXACT []
synonym: "SED tarda, X-linked" EXACT []
synonym: "X-linked SED" EXACT []
synonym: "X-linked SEDT" EXACT []
xref: MIM:313400
xref: ORDO:93284
is_a: DOID:0060564 ! spinal disease
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda

[Term]
id: DOID:0080363
name: mitochondrial pyruvate carrier deficiency
def: "A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22628558 "DO"]
synonym: "MPYCD" EXACT []
xref: MIM:614741
xref: NCI:C202117
xref: ORDO:447784
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3650 ! lactic acidosis
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:0080364
name: malignant adenoma
def: "A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18363065/ "DO"]
synonym: "malignant adenomas" EXACT []
is_a: DOID:0050687 ! cell type cancer

[Term]
id: DOID:0080365
name: endometrial hyperplasia
def: "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium. (DO)" [https://en.wikipedia.org/wiki/Endometrial_hyperplasia "DO"]
synonym: "endometrial hyperplasias" EXACT []
synonym: "simple endometrial hyperplasia" NARROW []
synonym: "simple endometrial hyperplasias" NARROW []
synonym: "Simple Endometrial Hyperplasia with Atypia" NARROW []
xref: EFO:1000098
xref: EFO:1000202
xref: EFO:1000525
xref: EFO:1000526
xref: MESH:D004714
is_a: DOID:0060095 ! uterine benign neoplasm
is_a: DOID:1005 ! endometrial disease

[Term]
id: DOID:0080366
name: desmoid tumor
def: "A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs. (DO)" [https://ghr.nlm.nih.gov/condition/desmoid-tumor "DO", https://rarediseases.org/rare-diseases/desmoid-tumor/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/28489620 "DO"]
xref: EFO:0009907
is_a: DOID:0060123 ! connective tissue benign neoplasm

[Term]
id: DOID:0080367
name: chronic eosinophilic leukemia
def: "A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. (DO)" [https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemia "DO", https://www.cancer.gov/publications/dictionaries/cancer-terms/def/chronic-eosinophilic-leukemia "DO"]
xref: EFO:1000178
xref: ICDO:9964/3
xref: NCI:C4563
is_a: DOID:1036 ! chronic leukemia
is_a: DOID:9005977 ! eosinophilic leukemia

[Term]
id: DOID:0080368
name: sex cord-stromal benign neoplasm
def: "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/sex-cord-stromal-tumor "DO"]
is_a: DOID:0050622 ! reproductive organ benign neoplasm

[Term]
id: DOID:0080369
name: ovarian sex-cord stromal tumor
def: "A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4862&ns=ncit "DO"]
synonym: "Ovarian Sclerosing Stromal Tumor" NARROW []
synonym: "Ovarian Sex Cord Tumor with Annular Tubules" NARROW []
xref: EFO:1000424
xref: EFO:1000426
xref: EFO:1000430
xref: NCI:C4862
is_a: DOID:192 ! sex cord-gonadal stromal tumor

[Term]
id: DOID:0080370
name: ovarian sex cord-stromal benign neoplasm
def: "A sex cord-stromal benign neoplasm that arises from the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498422/ "DO"]
xref: NCI:C6803
is_a: DOID:0080368 ! sex cord-stromal benign neoplasm

[Term]
id: DOID:0080371
name: testicular sex cord-stromal benign neoplasm
def: "A sex cord-stromal benign neoplasm that arises from the testis. (DO)" [http://www.pathologyoutlines.com/topic/testissexcordgeneral.html "DO"]
is_a: DOID:0080368 ! sex cord-stromal benign neoplasm

[Term]
id: DOID:0080372
name: epithelioid inflammatory myofibroblastic sarcoma
def: "An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21164297 "DO"]
is_a: DOID:0050905 ! inflammatory myofibroblastic tumor

[Term]
id: DOID:0080373
name: epididymis disease
def: "A male reproductive system disease that is located_in the epididymis. (DO)" [https://en.wikipedia.org/wiki/Epididymis "DO"]
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:0080374
name: gastroesophageal cancer
def: "A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042434 "DO"]
is_a: DOID:3119 ! gastrointestinal system cancer

[Term]
id: DOID:0080375
name: gastroesophageal adenocarcinoma
def: "A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827797 "DO"]
synonym: "gastric and esophageal adenocarcinoma" EXACT []
synonym: "gastro-esophageal adenocarcinoma" EXACT []
is_a: DOID:0080374 ! gastroesophageal cancer
is_a: DOID:299 ! adenocarcinoma

[Term]
id: DOID:0080376
name: trichorhinophalangeal syndrome type III
alt_id: MIM:190351
def: "A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23. (DO)" [https://rarediseases.info.nih.gov/diseases/7802/disease "DO"]
synonym: "Sugio-Kajii syndrome" EXACT []
synonym: "trichorhinophalangeal syndrome type 3" EXACT []
synonym: "TRPS3" EXACT []
xref: MESH:C566033
xref: ORDO:77258
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:421 ! hair disease
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9001487 ! Facies
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9005517 ! Trichorhinophalangeal Syndrome

[Term]
id: DOID:0080377
name: peroxisomal biogenesis disorder
def: "A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes. (DO)" [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder "DO", https://rarediseases.org/rare-diseases/zellweger-spectrum-disorders/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26627182 "DO"]
synonym: "PEROXISOME BIOGENESIS DISORDER DUE TO PEX5 DEFECT" NARROW []
synonym: "peroxisome biogenesis disorders" EXACT []
xref: MESH:C536664
xref: MIM:PS214100
is_a: DOID:906 ! peroxisomal disease

[Term]
id: DOID:0080379
name: nephrotic syndrome type 2
def: "A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10742096 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8606597 "DO"]
synonym: "nephrotic syndrome type 2, susceptibility to" RELATED []
synonym: "NPHS2" EXACT []
synonym: "NPHS2-RELATED CONDITION" EXACT []
synonym: "SRN1" EXACT []
synonym: "steroid-resistant nephrotic syndrome" EXACT []
synonym: "steroid-resistant nephrotic syndrome, autosomal recessive" EXACT []
synonym: "steroid-resistant nephrotic syndrome, familial idiopathic" EXACT []
synonym: "steroid-resistant nephrotic syndrome, idiopathic" EXACT []
xref: MESH:C536404
xref: MIM:600995
xref: MONDO:0010974
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1312 ! focal segmental glomerulosclerosis
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080380
name: nephrotic syndrome type 5
alt_id: DOID:9007459
def: "A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16912710 "DO"]
synonym: "Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities" EXACT []
synonym: "nephrotic syndrome type 5, with or without ocular abnormalities" EXACT []
synonym: "NPHS5" EXACT []
xref: MESH:C565405
xref: MIM:614199
xref: MONDO:0013621
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9001617 ! Congenital Nephrotic Syndrome with or without Ocular Abnormalities
is_a: DOID:9007896 ! Sclerosis

[Term]
id: DOID:0080381
name: nephrotic syndrome type 13
def: "A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26878725 "DO"]
synonym: "NPHS13" EXACT []
xref: MIM:616893
xref: MONDO:0014818
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080382
name: nephrotic syndrome type 3
def: "A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17086182 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18065803 "DO"]
synonym: "early-onset nephrotic syndrome type 3" EXACT []
synonym: "NPHS3" EXACT []
synonym: "PLCE1-related condition" EXACT []
xref: MIM:610725
xref: MONDO:0012546
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080383
name: nephrotic syndrome type 4
def: "A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9529364 "DO"]
synonym: "NPHS4" EXACT []
xref: MIM:256370
xref: MONDO:0009733
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080384
name: nephrotic syndrome type 6
def: "A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21722858 "DO"]
synonym: "NPHS6" EXACT []
xref: MIM:614196
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080385
name: nephrotic syndrome type 11
def: "A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26411495 "DO"]
synonym: "NPHS11" EXACT []
xref: MIM:616730
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080386
name: nephrotic syndrome type 10
alt_id: RDO:9001503
def: "A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24814193 "DO"]
synonym: "NPHS10" EXACT []
xref: MIM:615861
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080387
name: nephrotic syndrome type 12
def: "A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26878725 "DO"]
synonym: "NPHS12" EXACT []
synonym: "NUP93-RELATED CONDITION" EXACT []
xref: MIM:616892
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080388
name: nephrotic syndrome type 7
def: "A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23274426 "DO"]
synonym: "AHUS7" NARROW []
synonym: "AHUS, SUSCEPTIBILITY TO, 7" RELATED []
synonym: "DGKE-RELATED CONDITION" EXACT []
synonym: "HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7" RELATED []
synonym: "HEMOLYTIC UREMIC SYNDROME WITH DGKE DEFICIENCY" RELATED []
synonym: "Ig-mediated membranoproliferative glomerulonephritis" EXACT []
synonym: "Ig-mediated MPGN" EXACT []
synonym: "immunoglobulin-mediated membranoproliferative glomerulonephritis" EXACT []
synonym: "Immunoglobulin-mediated MPGN" EXACT []
synonym: "nephrotic syndrome type 7, with membranoproliferative glomerulonephritis" EXACT []
synonym: "nephrotic syndrome type 7, with membranoptoliferative glomerulonephritis" EXACT []
synonym: "NPHS7" EXACT []
xref: MIM:615008
xref: MONDO:0014005
xref: ORDO:329903
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome
is_a: DOID:2920 ! membranoproliferative glomerulonephritis

[Term]
id: DOID:0080389
name: nephrotic syndrome type 8
def: "A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23434736 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23867502 "DO"]
synonym: "NPHS8" EXACT []
xref: MIM:615244
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080390
name: nephrotic syndrome type 1
def: "A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10577936 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9660941 "DO"]
synonym: "congenital nephrosis 1, Finnish type" EXACT []
synonym: "Congenital nephrotic syndrome 1" EXACT []
synonym: "Congenital nephrotic syndrome, Finnish type" EXACT []
synonym: "Finnish congenital nephrosis" EXACT []
synonym: "Finnish congenital nephrotic syndrome" EXACT []
synonym: "idiopathic nephrotic syndrome" EXACT []
synonym: "NPHS1" EXACT []
synonym: "NPHS1-RELATED CONDITION" EXACT []
xref: GARD:1500
xref: MIM:256300
xref: NCI:C122795
xref: NCI:C122796
xref: ORDO:839
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080391
name: nephrotic syndrome type 9
def: "A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24270420 "DO"]
synonym: "NPHS9" EXACT []
xref: MIM:615573
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080392
name: nephrotic syndrome type 17
def: "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30179222 "DO"]
synonym: "NPHS17" EXACT []
xref: MIM:618176
xref: MONDO:0032580
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080393
name: nephrotic syndrome type 18
def: "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30179222 "DO"]
synonym: "NPHS18" EXACT []
xref: MIM:618177
xref: MONDO:0032581
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080394
name: nephrotic syndrome type 19
def: "A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30179222 "DO"]
synonym: "NPHS19" EXACT []
synonym: "NUP160-RELATED CONDITION" EXACT []
xref: MIM:618178
xref: MONDO:0032582
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome

[Term]
id: DOID:0080395
name: orofacial cleft 1
alt_id: MIM:119530
def: "An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7711723 "DO"]
synonym: "nonsyndromic cleft lip with or without cleft palate 1" EXACT []
synonym: "OFC1" EXACT []
xref: MESH:C566121
xref: NCI:C124838
is_a: DOID:0050567 ! orofacial cleft
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0080396
name: orofacial cleft 2
alt_id: MIM:602966
def: "An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2570526 "DO"]
synonym: "nonsyndromic cleft lip with or without cleft palate 2" EXACT []
synonym: "OFC2" EXACT []
xref: MESH:C566419
is_a: DOID:0050567 ! orofacial cleft

[Term]
id: DOID:0080397
name: orofacial cleft 3
alt_id: MIM:600757
def: "An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7668251 "DO"]
synonym: "nonsyndromic cleft lip with or without cleft palate 3" EXACT []
synonym: "OFC3" EXACT []
xref: MESH:C563448
is_a: DOID:0050567 ! orofacial cleft

[Term]
id: DOID:0080398
name: orofacial cleft 4
alt_id: MIM:608371
def: "An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12087515 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7820940 "DO"]
synonym: "nonsyndromic cleft lip with or without cleft palate 4" EXACT []
synonym: "OFC4" EXACT []
xref: MESH:C564251
is_a: DOID:0050567 ! orofacial cleft

[Term]
id: DOID:0080399
name: orofacial cleft 5
alt_id: MIM:608874
def: "An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10742093 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12807959 "DO"]
synonym: "nonsyndromic cleft lip with or without cleft palate 5" EXACT []
synonym: "OFC5" EXACT []
xref: MESH:C563843
is_a: DOID:0050567 ! orofacial cleft

[Term]
id: DOID:0080400
name: orofacial cleft 7
def: "An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10932188 "DO"]
xref: MESH:C563464
is_a: DOID:0050567 ! orofacial cleft
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11193 ! syndactyly
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:0080401
name: orofacial cleft 8
alt_id: MIM:618149
def: "An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29500247 "DO"]
xref: MESH:C565069
is_a: DOID:0050567 ! orofacial cleft

[Term]
id: DOID:0080402
name: orofacial cleft 9
alt_id: MIM:610361
def: "An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16909398 "DO"]
synonym: "nonsyndromic cleft lip with or without cleft palate 9" EXACT []
synonym: "OFC9" EXACT []
xref: MESH:C563675
is_a: DOID:0050567 ! orofacial cleft

[Term]
id: DOID:0080403
name: orofacial cleft 10
alt_id: MIM:613705
def: "An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16990542 "DO"]
synonym: "nonsyndromic cleft lip with or without cleft palate 10" EXACT []
synonym: "OFC10" EXACT []
xref: MESH:C566605
is_a: DOID:0050567 ! orofacial cleft

[Term]
id: DOID:0080404
name: orofacial cleft 11
alt_id: MIM:600625
def: "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19249007 "DO"]
synonym: "BMP4-RELATED CONDITION" BROAD []
synonym: "CHCL" NARROW []
synonym: "CONGENITAL HEALED CLEFT LIP" NARROW []
synonym: "nonsyndromic cleft lip with or without cleft palate 11" EXACT []
synonym: "OFC11" EXACT []
xref: MESH:C567410
is_a: DOID:0050567 ! orofacial cleft

[Term]
id: DOID:0080405
name: orofacial cleft 12
alt_id: MIM:612858
def: "An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19270707 "DO"]
synonym: "nonsyndromic cleft lip with or without cleft palate 12" EXACT []
synonym: "OFC12" EXACT []
xref: MESH:C567548
is_a: DOID:0050567 ! orofacial cleft

[Term]
id: DOID:0080406
name: orofacial cleft 13
def: "An orofacial cleft characterized by autosomal doninant inhertitance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21295280 "DO"]
synonym: "OFC13" EXACT []
xref: MIM:613857
is_a: DOID:0050567 ! orofacial cleft
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0080407
name: orofacial cleft 14
def: "An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. (DO)" [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401942 "DO"]
synonym: "OFC14" EXACT []
xref: MIM:615892
is_a: DOID:0050567 ! orofacial cleft
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080408
name: orofacial cleft 15
def: "An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25954033 "DO"]
synonym: "OFC15" EXACT []
xref: MIM:616788
is_a: DOID:0050567 ! orofacial cleft

[Term]
id: DOID:0080409
name: familial adenomatous polyposis 1
def: "A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. (DO)" [https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis "DO", https://www.ncbi.nlm.nih.gov/pubmed/1651563 "DO"]
synonym: "FAP1" EXACT []
xref: MIM:175100
is_a: DOID:0050424 ! familial adenomatous polyposis
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0080410
name: familial adenomatous polyposis 2
alt_id: MIM:608456
def: "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12853198 "DO"]
synonym: "Colorectal Adenomatous Polyposis, Autosomal Recessive" EXACT []
synonym: "COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS" NARROW []
synonym: "FAP2" EXACT []
synonym: "multiple colorectal adenomas, autosomal recessive" EXACT []
synonym: "mutyh-associated polyposis" EXACT []
synonym: "MUTYH-related attenuated familial adenomatous polyposis" EXACT []
synonym: "MUTYH-related attenuated familial polyposis coli" EXACT []
synonym: "MUTYH-related attenuated FAP" EXACT []
xref: EFO:0009296
xref: ICD10CM:D12.6
xref: MESH:C563924
xref: ORDO:247798
is_a: DOID:0050424 ! familial adenomatous polyposis
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080411
name: familial adenomatous polyposis 3
def: "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25938944 "DO"]
synonym: "FAP3" EXACT []
synonym: "NTHL1-RELATED CONDITION" EXACT []
xref: MIM:616415
is_a: DOID:0050424 ! familial adenomatous polyposis
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080412
name: familial adenomatous polyposis 4
def: "A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27476653 "DO"]
synonym: "FAP4" EXACT []
synonym: "MSH3-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS" EXACT []
synonym: "MSH3-RELATED CONDITION" BROAD []
xref: MIM:617100
is_a: DOID:0050424 ! familial adenomatous polyposis
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080413
name: developmental and epileptic encephalopathy 18
def: "A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23932106 "DO"]
synonym: "DEE18" EXACT []
synonym: "early infantile epileptic encephalopathy 18" EXACT []
synonym: "EIEE18" EXACT []
synonym: "SZT2-RELATED CONDITION" EXACT []
xref: GARD:13676
xref: MIM:615476
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080414
name: developmental and epileptic encephalopathy 15
def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23252400 "DO"]
synonym: "DEE15" EXACT []
synonym: "early infantile epileptic encephalopathy 15" EXACT []
synonym: "EIEE15" EXACT []
synonym: "epilepsy due to perinatal stroke" NARROW []
xref: MIM:615006
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080415
name: developmental and epileptic encephalopathy 23
def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24814191 "DO"]
synonym: "DEE23" EXACT []
synonym: "early infantile epileptic encephalopathy 23" EXACT []
synonym: "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT []
synonym: "EIEE23" EXACT []
synonym: "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT []
xref: MIM:615859
xref: ORDO:411986
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080416
name: developmental and epileptic encephalopathy 32
def: "A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25751627 "DO"]
synonym: "DEE32" EXACT []
synonym: "early infantile epileptic encephalopathy 32" EXACT []
synonym: "EIEE32" EXACT []
synonym: "KCNA2-RELATED CONDITION" EXACT []
synonym: "KCNA2-RELATED DISORDER" EXACT []
xref: MIM:616366
xref: NCI:C155998
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080417
name: developmental and epileptic encephalopathy 38
def: "A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32165008/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/25558065 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27270415 "DO"]
synonym: "ARV1-related condition" BROAD []
synonym: "DEE38" EXACT []
synonym: "early infantile epileptic encephalopathy 38" EXACT []
synonym: "EIEE38" EXACT []
synonym: "glycosylphosphatidylinositol biosynthesis defect 23" EXACT []
synonym: "GPIBD23" EXACT []
xref: MIM:617020
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency

[Term]
id: DOID:0080418
name: developmental and epileptic encephalopathy 54
def: "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27652284 "DO"]
synonym: "DEE54" EXACT []
synonym: "early infantile epileptic encephalopathy 54" EXACT []
synonym: "EIEE54" EXACT []
xref: MIM:617391
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080419
name: developmental and epileptic encephalopathy 50
def: "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28007989 "DO"]
synonym: "carbohydrate deficient glycoprotein syndrome type Iz" EXACT []
synonym: "CDG1Z" EXACT []
synonym: "CDG-Iz" EXACT []
synonym: "CDG syndrome type Iz" EXACT []
synonym: "congenital disorder of glycosylation type 1Z" EXACT []
synonym: "congenital disorder of glycosylation type Iz" EXACT []
synonym: "DEE50" EXACT []
synonym: "early infantile epileptic encephalopathy 50" EXACT []
synonym: "EIEE50" EXACT []
xref: GARD:13621
xref: MIM:616457
xref: NCI:C190868
xref: ORDO:448010
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:5212 ! congenital disorder of glycosylation

[Term]
id: DOID:0080420
name: developmental and epileptic encephalopathy 62
def: "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29466837 "DO"]
synonym: "DEE62" EXACT []
synonym: "early infantile epileptic encephalopathy 62" EXACT []
synonym: "EIEE62" EXACT []
synonym: "SCN3A-RELATED CONDITION" BROAD []
synonym: "SCN3A-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
xref: MIM:617938
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080421
name: developmental and epileptic encephalopathy 11
def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19786696 "DO"]
synonym: "COMPLEX NEURODEVELOPMENTAL DISORDER" BROAD []
synonym: "DEE11" EXACT []
synonym: "early infantile epileptic encephalopathy 11" EXACT []
synonym: "EIEE11" EXACT []
synonym: "EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURES" NARROW []
synonym: "SCN2A-related disorder" BROAD []
synonym: "SCN2A-RELATED GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS" EXACT []
xref: MIM:613721
xref: MONDO:0013388
xref: NCI:C172096
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080422
name: Dravet syndrome
alt_id: DOID:0060171
def: "A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27544470/ "DO", https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/11359211 "DO"]
synonym: "DEE6" EXACT []
synonym: "DEE6A" EXACT []
synonym: "developmental and epileptic encephalopathy 6" EXACT []
synonym: "developmental and epileptic encephalopathy 6A" EXACT []
synonym: "Dravet syndromes" EXACT []
synonym: "early infantile epileptic encephalopathy 6" EXACT []
synonym: "EIEE6" EXACT []
synonym: "severe myoclonic epilepsy in infancy" EXACT []
synonym: "severe myoclonic epilepsy of infancy" EXACT []
synonym: "SMEI" EXACT []
xref: GARD:10430
xref: MIM:607208
xref: NCI:C116573
xref: NCI:C147071
xref: ORDO:33069
is_a: DOID:0050703 ! infancy electroclinical syndrome
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:9005154 ! Myoclonic Epilepsies

[Term]
id: DOID:0080424
name: developmental and epileptic encephalopathy 44
def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27545681/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/27545674 "DO"]
synonym: "DEE44" EXACT []
synonym: "early infantile epileptic encephalopathy 44" EXACT []
synonym: "EIEE44" EXACT []
synonym: "UBA5-RELATED CONDITION" BROAD []
xref: MIM:617132
xref: NCI:C202547
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080425
name: developmental and epileptic encephalopathy 47
def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27872899/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/27164707 "DO"]
synonym: "DEE47" EXACT []
synonym: "early infantile epileptic encephalopathy 47" EXACT []
synonym: "EIEE47" EXACT []
synonym: "FGF12-RELATED CONDITION" EXACT []
xref: MIM:617166
xref: NCI:C201514
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080426
name: developmental and epileptic encephalopathy 63
def: "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28422131/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26539891 "DO"]
synonym: "DEE63" EXACT []
synonym: "early infantile epileptic encephalopathy 63" EXACT []
synonym: "EIEE63" EXACT []
xref: MIM:617976
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080427
name: developmental and epileptic encephalopathy 40
def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26486472 "DO"]
synonym: "DEE40" EXACT []
synonym: "early infantile epileptic encephalopathy 40" EXACT []
synonym: "EIEE40" EXACT []
xref: MIM:617065
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080428
name: developmental and epileptic encephalopathy 45
def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31618474/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23934111 "DO"]
synonym: "DEE45" EXACT []
synonym: "early infantile epileptic encephalopathy 45" EXACT []
synonym: "EIEE45" EXACT []
xref: MIM:617153
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080429
name: developmental and epileptic encephalopathy 24
def: "A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30351409/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24747641 "DO"]
synonym: "DEE24" EXACT []
synonym: "early infantile epileptic encephalopathy 24" EXACT []
synonym: "EIEE24" EXACT []
xref: MIM:615871
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080430
name: developmental and epileptic encephalopathy 65
def: "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29534297 "DO"]
synonym: "CYFIP2-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
synonym: "DEE65" EXACT []
synonym: "early infantile epileptic encephalopathy 65" EXACT []
synonym: "EIEE65" EXACT []
xref: MIM:618008
xref: NCI:C201518
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080431
name: developmental and epileptic encephalopathy 19
def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24623842 "DO"]
synonym: "DEE19" EXACT []
synonym: "early infantile epileptic encephalopathy 19" EXACT []
synonym: "EIEE19" EXACT []
xref: MIM:615744
xref: NCI:C142802
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080432
name: developmental and epileptic encephalopathy 60
def: "A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29394991 "DO"]
synonym: "DEE60" EXACT []
synonym: "early infantile epileptic encephalopathy 60" EXACT []
synonym: "EIEE60" EXACT []
xref: MIM:617929
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080433
name: developmental and epileptic encephalopathy 51
def: "A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27989324 "DO"]
synonym: "DEE51" EXACT []
synonym: "early infantile epileptic encephalopathy 51" EXACT []
synonym: "EIEE51" EXACT []
synonym: "MDH2-RELATED CONDITION" EXACT []
xref: MIM:617339
xref: MONDO:0015025
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080434
name: developmental and epileptic encephalopathy 61
def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27066583 "DO"]
synonym: "DEE61" EXACT []
synonym: "early infantile epileptic encephalopathy 61" EXACT []
synonym: "EIEE61" EXACT []
xref: MIM:617933
xref: MONDO:0033370
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080435
name: developmental and epileptic encephalopathy 37
def: "A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27236917 "DO"]
synonym: "DEE37" EXACT []
synonym: "early infantile epileptic encephalopathy 37" EXACT []
synonym: "EIEE37" EXACT []
xref: MIM:616981
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080436
name: developmental and epileptic encephalopathy 4
alt_id: MIM:612164
def: "A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19557857/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/18469812 "DO"]
synonym: "DEE4" EXACT []
synonym: "early infantile epileptic encephalopathy 4" EXACT []
synonym: "EIEE4" EXACT []
synonym: "STXBP1-associated neurodevelopmental disorder" BROAD []
xref: MESH:C567404
xref: NCI:C162472
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080437
name: developmental and epileptic encephalopathy 31A
def: "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25533962/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/25262651 "DO"]
synonym: "DEE31" EXACT []
synonym: "DEE31A" EXACT []
synonym: "developmental and epileptic encephalopathy 31" EXACT []
synonym: "developmental and epileptic encephalopathy 31A, autosomal dominant" EXACT []
synonym: "early infantile epileptic encephalopathy 31" EXACT []
synonym: "EIEE31" EXACT []
xref: MIM:616346
xref: MONDO:0014598
xref: NCI:C185237
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080438
name: developmental and epileptic encephalopathy 5
def: "A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20493457 "DO"]
synonym: "DEE5" EXACT []
synonym: "early infantile epileptic encephalopathy 5" EXACT []
synonym: "EIEE5" EXACT []
xref: MIM:613477
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080439
name: developmental and epileptic encephalopathy 14
def: "A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23086397 "DO"]
synonym: "DEE14" EXACT []
synonym: "early infantile epileptic encephalopathy 14" EXACT []
synonym: "EIEE14" EXACT []
synonym: "malignant migrating partial seizures of infancy" EXACT []
synonym: "MMPSI" EXACT []
xref: MIM:614959
xref: NCI:C188141
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080440
name: developmental and epileptic encephalopathy 3
alt_id: MIM:609304
def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15592994 "DO"]
synonym: "DEE3" EXACT []
synonym: "early infantile epileptic encephalopathy 3" EXACT []
synonym: "EIEE3" EXACT []
synonym: "neonatal myoclonic epilepsy with suppression-burst pattern" EXACT []
xref: MESH:C562695
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:308 ! early myoclonic encephalopathy

[Term]
id: DOID:0080441
name: developmental and epileptic encephalopathy 49
def: "A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27866705 "DO"]
synonym: "DEE49" EXACT []
synonym: "early infantile epileptic encephalopathy 49" EXACT []
synonym: "EIEE49" EXACT []
xref: MIM:617281
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080442
name: developmental and epileptic encephalopathy 41
def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27476654 "DO"]
synonym: "DEE41" EXACT []
synonym: "early infantile epileptic encephalopathy 41" EXACT []
synonym: "EIEE41" EXACT []
synonym: "SLC1A2-RELATED CONDITION" EXACT []
xref: MIM:617105
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080443
name: developmental and epileptic encephalopathy 21
def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30525121/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24399846 "DO"]
synonym: "DEE21" EXACT []
synonym: "early infantile epileptic encephalopathy 21" EXACT []
synonym: "EIEE21" EXACT []
xref: MIM:615833
xref: MONDO:0014360
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080444
name: developmental and epileptic encephalopathy 27
def: "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24272827 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28377535 "DO"]
synonym: "DEE27" EXACT []
synonym: "developmental delay with intractable seizures" RELATED []
synonym: "early infantile epileptic encephalopathy 27" EXACT []
synonym: "EIEE27" EXACT []
synonym: "GRIN2B-RELATED CONDITION" BROAD []
synonym: "GRIN2B-RELATED DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDER" BROAD []
synonym: "GRIN2B-RELATED DISORDER" BROAD []
xref: MIM:616139
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080445
name: developmental and epileptic encephalopathy 13
def: "A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24888894/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/22365152 "DO"]
synonym: "DEE13" EXACT []
synonym: "early infantile epileptic encephalopathy 13" EXACT []
synonym: "EIEE13" EXACT []
xref: MIM:614558
xref: MONDO:0013801
xref: NCI:C188139
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: rgd
creation_date: 2017-10-03T16:31:06Z

[Term]
id: DOID:0080446
name: developmental and epileptic encephalopathy 66
def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29656858 "DO"]
synonym: "DEE66" EXACT []
synonym: "early infantile epileptic encephalopathy 66" EXACT []
synonym: "EIEE66" EXACT []
synonym: "PACS2-RELATED CONDITION" EXACT []
xref: MIM:618067
xref: NCI:C198576
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080447
name: developmental and epileptic encephalopathy 43
def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27476654/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23934111 "DO"]
synonym: "DEE43" EXACT []
synonym: "early infantile epileptic encephalopathy 43" EXACT []
synonym: "EIEE43" EXACT []
xref: MIM:617113
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080448
name: developmental and epileptic encephalopathy 48
def: "A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27889060 "DO"]
synonym: "DEE48" EXACT []
synonym: "early infantile epileptic encephalopathy 48" EXACT []
synonym: "EIEE48" EXACT []
xref: MIM:617276
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080449
name: developmental and epileptic encephalopathy 16
def: "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21087195 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23526554 "DO"]
synonym: "DEE16" EXACT []
synonym: "early infantile epileptic encephalopathy 16" EXACT []
synonym: "EIEE16" EXACT []
xref: MIM:615338
xref: ORDO:352596
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080450
name: developmental and epileptic encephalopathy 17
def: "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23993195 "DO"]
synonym: "DEE17" EXACT []
synonym: "early infantile epileptic encephalopathy 17" EXACT []
synonym: "EIEE17" EXACT []
synonym: "GNAO1-RELATED CONDITION" BROAD []
xref: MIM:615473
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080451
name: developmental and epileptic encephalopathy 29
def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25817015 "DO"]
synonym: "DEE29" EXACT []
synonym: "early infantile epileptic encephalopathy 29" EXACT []
synonym: "EIEE29" EXACT []
xref: MIM:616339
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080452
name: developmental and epileptic encephalopathy 28
def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25411445/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24456803 "DO"]
synonym: "DEE28" EXACT []
synonym: "early infantile epileptic encephalopathy 28" EXACT []
synonym: "EIEE28" EXACT []
xref: MIM:616211
xref: MONDO:0014533
xref: NCI:C189273
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080453
name: developmental and epileptic encephalopathy 25
def: "A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27600704/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24995870 "DO"]
synonym: "DEE25" EXACT []
synonym: "developmental and epileptic encephalopathy 25 with amelogenesis imperfecta" EXACT []
synonym: "early infantile epileptic encephalopathy 25" EXACT []
synonym: "early infantile epileptic encephalopathy 25 with amelogenesis imperfecta" EXACT []
synonym: "EIEE25" EXACT []
xref: GARD:12901
xref: MIM:615905
xref: NCI:C168597
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
creation_date: 2015-12-09T11:46:39Z

[Term]
id: DOID:0080454
name: developmental and epileptic encephalopathy 42
def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27476654 "DO"]
synonym: "CACNA1A-RELATED COMPLEX NEURODEVELOPMENTAL DISORDER" EXACT []
synonym: "DEE42" EXACT []
synonym: "early infantile epileptic encephalopathy 42" EXACT []
synonym: "EIEE42" EXACT []
xref: MIM:617106
xref: NCI:C188142
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080455
name: developmental and epileptic encephalopathy 52
def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19710327 "DO"]
synonym: "DEE52" EXACT []
synonym: "early infantile epileptic encephalopathy 52" EXACT []
synonym: "EIEE52" EXACT []
xref: MIM:617350
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080456
name: developmental and epileptic encephalopathy 46
def: "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30280376/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/27616483 "DO"]
synonym: "DEE46" EXACT []
synonym: "early infantile epileptic encephalopathy 46" EXACT []
synonym: "EIEE46" EXACT []
synonym: "GRIN2D-RELATED CONDITION" EXACT []
xref: MIM:617162
xref: NCI:C177545
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080457
name: microcephaly, seizures, and developmental delay
def: "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20118933 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23224214 "DO"]
synonym: "DEE10" EXACT []
synonym: "developmental and epileptic encephalopathy 10" EXACT []
synonym: "early infantile epileptic encephalopathy 10" EXACT []
synonym: "EIEE10" EXACT []
synonym: "MCSZ" EXACT []
xref: MIM:613402
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:10907 ! microcephaly
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:0080458
name: developmental and epileptic encephalopathy 35
def: "A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26224535 "DO"]
synonym: "DEE35" EXACT []
synonym: "early infantile epileptic encephalopathy 35" EXACT []
synonym: "EIEE35" EXACT []
synonym: "ITPA-related encephalopathy" EXACT []
xref: MIM:616647
xref: ORDO:457375
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080459
name: developmental and epileptic encephalopathy 12
def: "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22690784/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20833646 "DO"]
synonym: "DEE12" EXACT []
synonym: "early infantile epileptic encephalopathy 12" EXACT []
synonym: "EIEE12" EXACT []
xref: MIM:613722
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080460
name: developmental and epileptic encephalopathy 34
def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26333769 "DO"]
synonym: "DEE34" EXACT []
synonym: "early infantile epileptic encephalopathy 34" EXACT []
synonym: "EIEE34" EXACT []
xref: MIM:616645
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080461
name: developmental and epileptic encephalopathy 26
def: "A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25164438 "DO"]
synonym: "DEE26" EXACT []
synonym: "early infantile epileptic encephalopathy 26" EXACT []
synonym: "EIEE26" EXACT []
synonym: "epileptic encephalopathy-26" EXACT []
synonym: "KCNB1-related disorder" EXACT []
xref: GARD:12391
xref: MIM:616056
xref: NCI:C175047
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080462
name: developmental and epileptic encephalopathy 7
def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15249611 "DO"]
synonym: "continuous spike and waves during slow-wave sleep syndrome" NARROW []
synonym: "DEE7" EXACT []
synonym: "early infantile epileptic encephalopathy 7" EXACT []
synonym: "EIEE7" EXACT []
synonym: "KCNQ2-RELATED CONDITION" BROAD []
synonym: "KCNQ2-related epileptic encephalopathy" EXACT []
synonym: "KCNQ2-related neonatal epileptic encephalopathy" EXACT []
xref: MIM:613720
xref: NCI:C192087
xref: ORDO:439218
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080463
name: developmental and epileptic encephalopathy 33
def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23033978 "DO"]
synonym: "DEE33" EXACT []
synonym: "early infantile epileptic encephalopathy 33" EXACT []
synonym: "EEF1A2-RELATED DEVELOPMENTAL AND DEGENERATIVE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY" BROAD []
synonym: "EIEE33" EXACT []
xref: MIM:616409
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080464
name: developmental and epileptic encephalopathy 53
def: "A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27435091 "DO"]
synonym: "DEE53" EXACT []
synonym: "early infantile epileptic encephalopathy 53" EXACT []
synonym: "EIEE53" EXACT []
xref: MIM:617389
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080465
name: developmental and epileptic encephalopathy 30
def: "A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25839329 "DO"]
synonym: "DEE30" EXACT []
synonym: "early infantile epileptic encephalopathy 30" EXACT []
synonym: "EIEE30" EXACT []
xref: MIM:616341
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080467
name: developmental and epileptic encephalopathy 2
alt_id: MIM:300672
def: "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15492925 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22872100 "DO"]
synonym: "atypical Rett Syndrome, CDKL5-related" EXACT []
synonym: "CDKL5 disorder" EXACT []
synonym: "CDKL5-RELATED CONDITION" EXACT []
synonym: "DEE2" EXACT []
synonym: "early infantile epileptic encephalopathy 2" EXACT []
synonym: "EIEE2" EXACT []
synonym: "ISSX2" EXACT []
synonym: "Rett syndrome, variant, with infantile spasms" EXACT []
synonym: "X-linked dominant infantile spasm syndrome-2" EXACT []
synonym: "X-linked infantile spasm syndrome 2" EXACT []
xref: MESH:C564064
xref: NCI:C147070
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:1206 ! Rett syndrome

[Term]
id: DOID:0080468
name: developmental and epileptic encephalopathy 1
alt_id: MIM:308350
def: "A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17668384/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/11889467 "DO"]
synonym: "DEE1" EXACT []
synonym: "early infantile epileptic encephalopathy 1" EXACT []
synonym: "EIEE1" EXACT []
synonym: "infantile epileptic-dyskinetic encephalopathy" EXACT []
synonym: "ISSX1" EXACT []
synonym: "X-linked infantile spasms" EXACT []
synonym: "X-linked infantile spasm syndrome" EXACT []
synonym: "X-linked infantile spasm syndrome, 1" EXACT []
synonym: "X-linked Ohtahara syndrome" EXACT []
synonym: "X-linked West syndrome" EXACT []
synonym: "XMESID" EXACT []
xref: MESH:C567924
xref: NCI:C179866
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080470
name: developmental and epileptic encephalopathy 36
def: "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23033978 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26138355 "DO"]
synonym: "CDG1S" NARROW []
synonym: "CDG Is" NARROW []
synonym: "CDGIs" NARROW []
synonym: "congenital disorder of glycosylation type 1S" NARROW []
synonym: "congenital disorder of glycosylation type Is" NARROW []
synonym: "DEE36" EXACT []
synonym: "early infantile epileptic encephalopathy 36" EXACT []
synonym: "EIEE36" EXACT []
xref: GARD:12401
xref: MIM:300884
xref: NCI:C142803
xref: ORDO:324422
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080471
name: developmental and epileptic encephalopathy 92
def: "A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25124326 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29100083 "DO"]
synonym: "DEE92" EXACT []
synonym: "IECEE2" EXACT []
synonym: "infantile or early childhood epileptic encephalopathy 2" EXACT []
xref: MIM:617829
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080472
name: developmental and epileptic encephalopathy 91
def: "A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28942967 "DO"]
synonym: "DEE91" EXACT []
synonym: "IECEE1" EXACT []
synonym: "infantile or early childhood epileptic encephalopathy 1" EXACT []
synonym: "PPP3CA-RELATED CONDITION" BROAD []
xref: MIM:617711
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080473
name: developmental delay and seizures with or without movement abnormalities
def: "A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29100083 "DO"]
synonym: "DEDSM" EXACT []
synonym: "DHDDS-RELATED CONDITION" BROAD []
xref: MIM:617836
is_a: DOID:0050888 ! syndromic intellectual disability
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:0080474
name: pustular psoriasis 14
def: "A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21848462 "DO"]
synonym: "acrodermatitis continua of Hallopeau" EXACT []
synonym: "acute generalised pustular psoriasis" EXACT []
synonym: "deficiency of IL-36R antagonist" EXACT []
synonym: "deficiency of the interleukin-36 receptor antagonist" EXACT []
synonym: "DITRA" EXACT []
synonym: "generalized pustular psoriasis" EXACT []
synonym: "generalized pustular psoriasis of von Zumbusch" EXACT []
synonym: "GPP" EXACT []
synonym: "interleukin 36 receptor antagonist deficiency" EXACT []
synonym: "palmoplantar pustulosis" EXACT []
synonym: "PSORP" EXACT []
synonym: "PSORS14" EXACT []
synonym: "von Zumbusch psoriasis" EXACT []
xref: MIM:614204
xref: NCI:C202121
xref: ORDO:404546
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0080475
name: psoriasis 2
def: "A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22521418 "DO"]
synonym: "PAPULOSQUAMOUS ERUPTIONS" NARROW []
synonym: "Psoriasis Susceptibility 2" EXACT []
synonym: "PSORS2" EXACT []
xref: MIM:602723
xref: MONDO:0011269
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0080476
name: peroxisome biogenesis disorder 1A
def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"]
synonym: "CG1" EXACT []
synonym: "CGE" EXACT []
synonym: "PBD1A" EXACT []
synonym: "peroxisome biogenesis disorder 1A (Zellweger)" EXACT []
synonym: "peroxisome biogenesis disorder, complementation group 1" EXACT []
synonym: "peroxisome biogenesis disorder, complementation group E" EXACT []
xref: MIM:214100
xref: NCI:C155748
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:0080477
name: peroxisome biogenesis disorder 2A
def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"]
synonym: "CG2" NARROW []
synonym: "PBD2A" EXACT []
synonym: "peroxisome biogenesis disorder 2A (Zellweger)" EXACT []
synonym: "peroxisome biogenesis disorder, complementation group 2" NARROW []
xref: MIM:214110
xref: NCI:C155750
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:0080478
name: peroxisome biogenesis disorder 3A
alt_id: MIM:614859
def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"]
synonym: "CG3" NARROW []
synonym: "PBD3A" EXACT []
synonym: "PDB3A" NARROW []
synonym: "peroxisome biogenesis disorder 3A (Zellweger)" EXACT []
synonym: "peroxisome biogenesis disorder, complementation group 3" NARROW []
xref: MESH:C566633
xref: NCI:C155752
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:0080479
name: peroxisome biogenesis disorder 4A
alt_id: MIM:614862
def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"]
synonym: "CG4" NARROW []
synonym: "CG6" NARROW []
synonym: "CGC" NARROW []
synonym: "PBD4A" EXACT []
synonym: "PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)" EXACT []
synonym: "peroxisome biogenesis disorder, complementation group 4" EXACT []
synonym: "peroxisome biogenesis disorder, complementation group 6" NARROW []
synonym: "peroxisome biogenesis disorder, complementation group C" NARROW []
xref: MESH:C563301
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:0080480
name: peroxisome biogenesis disorder 5A
def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"]
synonym: "CG5" BROAD []
synonym: "CGF" BROAD []
synonym: "PBD5A" EXACT []
synonym: "Peroxisome Biogenesis Disorder 5A (Zellweger)" EXACT []
synonym: "peroxisome biogenesis disorder, complementation group 5" BROAD []
synonym: "peroxisome biogenesis disorder, complementation group F" BROAD []
synonym: "PEX2-RELATED CONDITION" BROAD []
xref: MIM:614866
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:0080481
name: peroxisome biogenesis disorder 6A
def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"]
synonym: "PBD6A" EXACT []
synonym: "Peroxisome Biogenesis Disorder 6A (Zellweger)" EXACT []
xref: MIM:614870
xref: MONDO:0013936
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:0080482
name: peroxisome biogenesis disorder 7A
def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"]
synonym: "CG8" NARROW []
synonym: "CGA" NARROW []
synonym: "PBD7A" EXACT []
synonym: "Peroxisome Biogenesis Disorder 7A (Zellweger)" EXACT []
synonym: "peroxisome biogenesis disorder, complementation group 8" NARROW []
synonym: "peroxisome biogenesis disorder, complementation group A" NARROW []
xref: MIM:614872
xref: NCI:C155760
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:0080483
name: peroxisome biogenesis disorder 8A
def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"]
synonym: "PBD8A" EXACT []
synonym: "peroxisome biogenesis disorder 8A (Zellweger)" EXACT []
synonym: "PEROXISOME BIOGENESIS DISORDER DUE TO PEX16 DEFECT" BROAD []
xref: MIM:614876
xref: NCI:C155762
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:0080484
name: peroxisome biogenesis disorder 10A
def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"]
synonym: "PBD10A" EXACT []
synonym: "peroxisome biogenesis disorder 10A (Zellweger)" EXACT []
synonym: "PEX3-RELATED CONDITION" BROAD []
xref: MIM:614882
xref: MONDO:0013948
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:0080485
name: peroxisome biogenesis disorder 11A
def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"]
synonym: "PBD11A" EXACT []
synonym: "peroxisome biogenesis disorder 11A (Zellweger)" EXACT []
xref: MIM:614883
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:0080486
name: peroxisome biogenesis disorder 12A
def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"]
synonym: "PBD12A" EXACT []
synonym: "peroxisome biogenesis disorder 12A (Zellweger)" EXACT []
xref: MIM:614886
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:0080487
name: peroxisome biogenesis disorder 13A
def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"]
synonym: "PBD13A" EXACT []
synonym: "peroxisome biogenesis disorder 13A (Zellweger)" EXACT []
xref: MIM:614887
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:0080488
name: mucolipidosis
def: "A lipid storage disease that is characterized by increased storage of carbohydrates and lipids. (DO)" [https://en.wikipedia.org/wiki/Mucolipidosis "DO", https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Mucolipidoses-Fact-Sheet "DO"]
synonym: "mucolipidoses" EXACT []
xref: MESH:D009081
xref: MIM:PS256550
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:0080489
name: GM1 gangliosidosis type 3
def: "A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/404231 "DO"]
synonym: "adult GM1 gangliosidosis" EXACT []
synonym: "adult-onset GM1 gangliosidosis" EXACT []
synonym: "Gangliosidosis, Generalized GM1, Adult Type" EXACT []
synonym: "Gangliosidosis, Generalized GM1, Chronic Type" EXACT []
synonym: "Gangliosidosis, Generalized GM1, Type 3" EXACT []
synonym: "Gangliosidosis, Generalized GM1, Type III" EXACT []
synonym: "GM1G3" EXACT []
synonym: "GM1-gangliosidoses type III" EXACT []
synonym: "GM1-gangliosidosis type III" EXACT []
synonym: "Type 3 (Adult) GM1 Gangliosidosis" EXACT []
xref: GARD:2431
xref: MIM:230650
xref: MONDO:0009262
xref: ORDO:79257
is_a: DOID:3322 ! GM1 gangliosidosis

[Term]
id: DOID:0080490
name: mucolipidosis type IV
def: "A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time. (DO)" [https://en.wikipedia.org/wiki/Mucolipidosis_type_IV "DO", https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv "DO"]
synonym: "ML4" EXACT []
synonym: "ML IV" EXACT []
synonym: "Mucolipidosis IV" EXACT []
synonym: "mucolipidosis type 4" EXACT []
synonym: "type IV mucolipidoses" EXACT []
xref: GARD:94
xref: MIM:252650
xref: NCI:C84896
xref: ORDO:578
is_a: DOID:0080488 ! mucolipidosis

[Term]
id: DOID:0080491
name: cerebral cavernous malformation 1
def: "A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21. (DO)" [https://www.omim.org/entry/116860?search=116860&highlight=116860 "DO"]
synonym: "CCM1" EXACT []
synonym: "cerebral cavernous malformations 1" EXACT []
synonym: "KRIT1-RELATED DISORDERS" EXACT []
xref: MIM:116860
is_a: DOID:9001136 ! Familial Cerebral Cavernous Malformation

[Term]
id: DOID:0080492
name: leukocyte adhesion deficiency 2
def: "A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit. (DO)" [https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK539770/ "DO"]
comment: Note: FEB 2019: per https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/648 DOID:0080492 (leukocyte adhesion deficiency 2) and DOID:0070255 (congenital disorder of glycosylation type IIc) are two different diseases.
synonym: "LAD2" EXACT []
is_a: DOID:6612 ! leukocyte adhesion deficiency

[Term]
id: DOID:0080493
name: ovarian dysgenesis 1
def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16. (DO)" [https://www.omim.org/entry/233300 "DO"]
synonym: "hypergonadotropic ovarian failure" EXACT []
synonym: "ODG1" EXACT []
synonym: "OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE" EXACT []
synonym: "OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE" EXACT []
synonym: "Ovarian Dysgenesis I" EXACT []
xref: MIM:233300
xref: MONDO:0024463
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14450 ! 46 XX gonadal dysgenesis

[Term]
id: DOID:0080494
name: ovarian dysgenesis 2
alt_id: MIM:300510
def: "A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11. (DO)" [https://www.omim.org/entry/300510 "DO"]
synonym: "hypergonadotropic ovarian dysgenesis, X-linked" EXACT []
synonym: "hypergonadotropic ovarian failure due to ovarian dysgenesis" EXACT []
synonym: "ODG2" EXACT []
synonym: "POF4" NARROW []
synonym: "premature ovarian failure 4" NARROW []
xref: MESH:C564499
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:14450 ! 46 XX gonadal dysgenesis

[Term]
id: DOID:0080495
name: ovarian dysgenesis 3
def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21. (DO)" [https://www.omim.org/entry/614324 "DO"]
synonym: "ODG3" EXACT []
xref: MIM:614324
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14450 ! 46 XX gonadal dysgenesis

[Term]
id: DOID:0080496
name: ovarian dysgenesis 4
def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22. (DO)" [https://www.omim.org/entry/616185 "DO"]
synonym: "ODG4" EXACT []
xref: MIM:616185
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14450 ! 46 XX gonadal dysgenesis

[Term]
id: DOID:0080497
name: ovarian dysgenesis 5
def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34. (DO)" [https://www.omim.org/entry/617690 "DO"]
synonym: "ODG5" EXACT []
xref: MIM:617690
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14450 ! 46 XX gonadal dysgenesis

[Term]
id: DOID:0080498
name: ovarian dysgenesis 6
def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15. (DO)" [https://www.omim.org/entry/618078 "DO"]
synonym: "ODG6" EXACT []
xref: MIM:618078
xref: MONDO:0054850
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14450 ! 46 XX gonadal dysgenesis
created_by: slaulede
creation_date: 2018-09-13T00:00:00Z

[Term]
id: DOID:0080499
name: ovarian dysgenesis 7
def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23. (DO)" [https://www.omim.org/entry/618117 "DO"]
synonym: "ODG7" EXACT []
xref: MIM:618117
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14450 ! 46 XX gonadal dysgenesis

[Term]
id: DOID:0080500
name: ovarian dysgenesis 8
def: "A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23. (DO)" [https://www.omim.org/entry/618187 "DO"]
synonym: "ODG8" EXACT []
xref: MIM:618187
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14450 ! 46 XX gonadal dysgenesis
created_by: slaulede
creation_date: 2019-01-16T00:00:00Z

[Term]
id: DOID:0080501
name: GM1 gangliosidosis type 2
alt_id: MIM:230600
def: "A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12644936 "DO"]
synonym: "generalized GM1 gangliosidosis, juvenile type" EXACT []
synonym: "generalized GM1 gangliosidosis, late-infantile type" EXACT []
synonym: "generalized GM1 gangliosidosis, type 2" EXACT []
synonym: "generalized GM1 gangliosidosis, type II" EXACT []
synonym: "GM1G2" EXACT []
synonym: "GM1-gangliosidoses, type II" EXACT []
synonym: "GM1-gangliosidosis, type II" EXACT []
synonym: "juvenile GM1 gangliosidosis" EXACT []
xref: MESH:C566893
is_a: DOID:3322 ! GM1 gangliosidosis

[Term]
id: DOID:0080502
name: GM1 gangliosidosis type 1
alt_id: MIM:230500
def: "A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. (DO)" [https://omim.org/entry/230500 "DO"]
synonym: "generalized GM1 gangliosidosis, infantile form" EXACT []
synonym: "generalized GM1 gangliosidosis, type 1" EXACT []
synonym: "generalized GM1 gangliosidosis, type I" EXACT []
synonym: "generalized GM1 gangliosidosis, type I, with cardiac involvement" NARROW []
synonym: "GLB1 DEFICIENCY GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT" NARROW []
synonym: "GM1G1" EXACT []
synonym: "GM1-gangliosidoses type I" EXACT []
synonym: "GM1-gangliosidosis type I" EXACT []
synonym: "Gm1 Gangliosidosis, Type I, with Cardiac Involvement" RELATED []
synonym: "Infantile Gangliosidosis GM1" EXACT []
xref: GARD:6479
xref: MESH:C566895
xref: ORDO:79255
is_a: DOID:114 ! heart disease
is_a: DOID:3322 ! GM1 gangliosidosis

[Term]
id: DOID:0080503
name: multiple congenital anomalies-hypotonia-seizures syndrome
def: "A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29974678 "DO"]
xref: GARD:12781
xref: MIM:PS614080
xref: ORDO:280633
is_a: DOID:0080015 ! physical disorder
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0080504
name: Parkinson's disease 22
def: "A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30496485 "DO", https://www.omim.org/entry/616710 "DO"]
synonym: "autosomal dominant Parkinson's disease 22" EXACT []
synonym: "PARK22" EXACT []
synonym: "Parkinson disease 22, autosomal dominant" EXACT []
xref: MIM:616710
xref: MONDO:0014742
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060892 ! late onset Parkinson's disease

[Term]
id: DOID:0080505
name: Cornelia de Lange syndrome 1
def: "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20583156 "DO"]
synonym: "CDLS1" EXACT []
synonym: "NIPBL-RELATED CONDITION" EXACT []
xref: MIM:122470
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11725 ! Cornelia de Lange syndrome

[Term]
id: DOID:0080506
name: Cornelia de Lange syndrome 2
def: "A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22106055 "DO"]
synonym: "CDLS2" EXACT []
synonym: "CONGENITAL MUSCULAR HYPERTROPHY-CEREBRAL SYNDROME" RELATED []
synonym: "Cornelia de Lange syndrome, X-linked" BROAD []
synonym: "SMC1A-RELATED COHESINOPATHY" BROAD []
synonym: "X-linked CDLS" BROAD []
xref: MIM:300590
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:11725 ! Cornelia de Lange syndrome

[Term]
id: DOID:0080507
name: Cornelia de Lange syndrome 3
def: "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25655089 "DO"]
synonym: "CDLS3" EXACT []
synonym: "Cornelia De Lange syndrome 3 with or without midline brain defects" EXACT []
xref: MIM:610759
xref: MONDO:0012555
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11725 ! Cornelia de Lange syndrome

[Term]
id: DOID:0080508
name: Cornelia de Lange syndrome 4
def: "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22633399 "DO"]
synonym: "CDLS4" EXACT []
synonym: "Cornelia de Lange syndrome 4 with or without midline brain defects" EXACT []
synonym: "RAD21-RELATED CONDITION" BROAD []
xref: MIM:614701
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11725 ! Cornelia de Lange syndrome

[Term]
id: DOID:0080509
name: Cornelia de Lange syndrome 5
def: "A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22889856 "DO"]
synonym: "CDLS5" EXACT []
synonym: "HDAC8-RELATED CONDITION" EXACT []
xref: MIM:300882
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:11725 ! Cornelia de Lange syndrome

[Term]
id: DOID:0080510
name: epidermolysis bullosa simplex localized type
def: "An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. (DO)" [https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources "DO"]
synonym: "Acral Form EBS" EXACT []
synonym: "Epidermolysis Bullosa of Hands and Feet" EXACT []
synonym: "epidermolysis bullosa simplex Weber-Cockayne type" EXACT []
synonym: "localized epidermolysis bullosa simplex" EXACT []
synonym: "Weber Cockayne Syndrome" EXACT []
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4644 ! epidermolysis bullosa simplex

[Term]
id: DOID:0080511
name: epidermolysis bullosa simplex generalized type
def: "An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy. (DO)" [https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources "DO"]
synonym: "epidermolysis bullosa simplex Koebner type" EXACT []
synonym: "Generalized EBS" EXACT []
synonym: "generalized epidermolysis bullosa simplex" EXACT []
synonym: "generalized epidermolysis bullosa simplex with severe palmoplantar keratosis" EXACT []
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4644 ! epidermolysis bullosa simplex

[Term]
id: DOID:0080512
name: Meier-Gorlin syndrome 1
def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32. (DO)" [https://www.omim.org/entry/224690 "DO"]
synonym: "MGORS1" EXACT []
synonym: "ORC1-RELATED CONDITION" EXACT []
xref: MIM:224690
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060306 ! Meier-Gorlin syndrome

[Term]
id: DOID:0080513
name: Meier-Gorlin syndrome 2
def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23. (DO)" [https://www.omim.org/entry/613800 "DO"]
synonym: "MGORS2" EXACT []
xref: MIM:613800
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060306 ! Meier-Gorlin syndrome

[Term]
id: DOID:0080514
name: Meier-Gorlin syndrome 3
def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11. (DO)" [https://www.omim.org/entry/613803 "DO"]
synonym: "MGORS3" EXACT []
xref: MIM:613803
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060306 ! Meier-Gorlin syndrome

[Term]
id: DOID:0080515
name: Meier-Gorlin syndrome 4
def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24. (DO)" [https://www.omim.org/entry/613804 "DO"]
synonym: "MGORS4" EXACT []
xref: MIM:613804
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060306 ! Meier-Gorlin syndrome

[Term]
id: DOID:0080516
name: Meier-Gorlin syndrome 5
def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous mutation in the CDC6 gene on chromosome 17q21. (DO)" [https://www.omim.org/entry/613805 "DO"]
synonym: "MGORS5" EXACT []
xref: MIM:613805
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060306 ! Meier-Gorlin syndrome

[Term]
id: DOID:0080517
name: Meier-Gorlin syndrome 6
def: "A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22. (DO)" [https://www.omim.org/entry/616835 "DO"]
synonym: "MGORS6" EXACT []
xref: MIM:616835
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060306 ! Meier-Gorlin syndrome

[Term]
id: DOID:0080518
name: Meier-Gorlin syndrome 7
def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11. (DO)" [https://www.omim.org/entry/617063 "DO"]
synonym: "MGORS7" EXACT []
xref: MIM:617063
xref: MONDO:0014894
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060306 ! Meier-Gorlin syndrome

[Term]
id: DOID:0080519
name: PAPA syndrome
alt_id: MIM:604416
def: "A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. (DO)" [https://en.wikipedia.org/wiki/PAPA_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/28236224 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28251506 "DO", https://www.nomidalliance.org/papa.php "DO"]
synonym: "familial recurrent arthritis" EXACT []
synonym: "FRA" EXACT []
synonym: "PAPAS" EXACT []
synonym: "pyogenic arthritis, pyoderma gangrenosum, and acne" EXACT []
synonym: "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne" EXACT []
synonym: "pyogenic sterile arthritis, pyoderma gangrenosum, and acne" EXACT []
xref: MESH:C536253
xref: ORDO:69126
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:6543 ! acne
is_a: DOID:813 ! septic arthritis
is_a: DOID:8553 ! pyoderma gangrenosum

[Term]
id: DOID:0080520
name: Tn polyagglutination syndrome
alt_id: DOID:9000181
alt_id: MIM:300622
def: "A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16251947 "DO"]
synonym: "Galactosyltransferase Deficiency" EXACT []
synonym: "TNPS" EXACT []
synonym: "Tn Syndrome" EXACT []
xref: MESH:C562719
is_a: DOID:225 ! syndrome
is_a: DOID:74 ! hematopoietic system disease
is_a: DOID:9005170 ! polyagglutination

[Term]
id: DOID:0080521
name: lung non-squamous non-small cell carcinoma
def: "A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30362335 "DO"]
synonym: "non- squamous NSCLC" EXACT []
xref: NCI:C135017
is_a: DOID:3908 ! lung non-small cell carcinoma

[Term]
id: DOID:0080522
name: anaplastic thyroid carcinoma
def: "A thyroid gland carcinoma that is composed of undifferentiated cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28707679 "DO"]
synonym: "anaplastic thyroid cancer" EXACT []
synonym: "anaplastic thyroid cancers" EXACT []
synonym: "anaplastic thyroid carcinomas" EXACT []
synonym: "thyroid gland anaplastic carcinoma" EXACT []
synonym: "thyroid gland undifferentiated (anaplastic) carcinoma" EXACT []
xref: EFO:1000595
xref: MESH:D065646
xref: MONDO:0006468
xref: NCI:C3878
xref: NCI:C664
is_a: DOID:3963 ! thyroid gland carcinoma

[Term]
id: DOID:0080523
name: adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
alt_id: MIM:221820
def: "A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27680516 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28921817 "DO"]
synonym: "adult-onset leukodystrophy with neuroaxonal spheroids" EXACT []
synonym: "ALSP" EXACT []
synonym: "autosomal dominant leukoencephalopathy with neuroaxonal spheroids" EXACT []
synonym: "CSF1R-RELATED ADULT-ONSET LEUKOENCEPHALOPATHY" BROAD []
synonym: "CSF1R-RELATED CONDITION" BROAD []
synonym: "familial dementia, Neumann type" EXACT []
synonym: "familial progressive subcortical gliosis" EXACT []
synonym: "GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL" EXACT []
synonym: "GPSC" EXACT []
synonym: "HDLS" EXACT []
synonym: "HDLS1" EXACT []
synonym: "hereditary diffuse leukoencephalopathy with axonal spheroids" EXACT []
synonym: "hereditary diffuse leukoencephalopathy with spheroids" EXACT []
synonym: "hereditary diffuse leukoencephalopathy with spheroids 1" EXACT []
synonym: "LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA" EXACT []
synonym: "Leukoencephalopathy, diffuse hereditary, with spheroids 1" EXACT []
synonym: "LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1" EXACT []
synonym: "neuroaxonal leukodystrophy" EXACT []
synonym: "subcortical gliosis of Neumann" EXACT []
xref: GARD:10981
xref: MESH:C580150
xref: NCI:C153289
xref: ORDO:313808
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:9002704 ! Leukoencephalopathies

[Term]
id: DOID:0080524
name: thyroid gland adenocarcinoma
def: "A thyroid gland carcinoma that derives_from epithelial cells of glandular origin. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf "DO"]
xref: NCI:C27380
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:3963 ! thyroid gland carcinoma

[Term]
id: DOID:0080525
name: differentiated high-grade thyroid carcinoma
def: "A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7153&ns=ncit "DO"]
synonym: "differentiated thyroid gland carcinoma" EXACT []
xref: EFO:1002017
xref: NCI:C7153
is_a: DOID:0080524 ! thyroid gland adenocarcinoma

[Term]
id: DOID:0080526
name: bronchiectasis 1
alt_id: MIM:211400
def: "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12. (DO)" [https://www.omim.org/entry/211400 "DO"]
synonym: "BESC1" EXACT []
synonym: "bronchiectasis with or without elevated sweat chloride 1" EXACT []
synonym: "BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF" RELATED []
synonym: "HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO" RELATED []
xref: MESH:C567618
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9563 ! bronchiectasis

[Term]
id: DOID:0080527
name: bronchiectasis 2
alt_id: MIM:613021
def: "A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel. (DO)" [https://www.omim.org/entry/613021 "DO"]
synonym: "BESC2" EXACT []
synonym: "Bronchiectasis with or without Elevated Sweat Chloride 2" EXACT []
synonym: "IDIOPATHIC BRONCHIECTASIS" EXACT []
xref: MESH:C567813
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9563 ! bronchiectasis

[Term]
id: DOID:0080528
name: bronchiectasis 3
alt_id: MIM:613071
def: "A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel. (DO)" [https://www.omim.org/entry/613071 "DO"]
synonym: "BESC3" EXACT []
synonym: "bronchiectasis with or without elevated sweat chloride 3" EXACT []
xref: MESH:C567772
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9563 ! bronchiectasis

[Term]
id: DOID:0080530
name: granular corneal dystrophy 1
alt_id: MIM:121900
def: "A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface. (DO)" [https://omim.org/entry/121900?search=121900&highlight=121900 "DO"]
synonym: "CDGG1" EXACT []
synonym: "corneal dystrophy granular type" EXACT []
synonym: "Corneal dystrophy punctate or nodular" EXACT []
synonym: "GCD1" EXACT []
synonym: "Granular Corneal Dystrophy, Type I" EXACT []
synonym: "Groenouw type I corneal dystrophy" EXACT []
xref: MESH:C537304
is_a: DOID:12318 ! granular corneal dystrophy

[Term]
id: DOID:0080531
name: dedifferentiated liposarcoma
def: "A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211889/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26645460 "DO"]
synonym: "dedifferentiated liposarcomas" EXACT []
xref: EFO:0003085
xref: ICDO:8858/3
xref: NCI:C3704
xref: ORDO:99970
is_a: DOID:3382 ! liposarcoma

[Term]
id: DOID:0080532
name: Smarca4-deficient sarcoma of thorax
def: "A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). (DO)" [https://ghr.nlm.nih.gov/gene/SMARCA4#conditions "DO", https://www.nature.com/articles/modpathol201761.pdf?origin=ppub "DO", https://www.ncbi.nlm.nih.gov/pubmed/26343384 "DO"]
synonym: "SMARCA4-DTS" EXACT []
xref: ORDO:466962
is_a: DOID:3672 ! rhabdoid cancer
is_a: DOID:5093 ! thoracic cancer

[Term]
id: DOID:0080533
name: Carney-Stratakis syndrome
alt_id: MIM:606864
def: "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. (DO)" [https://rarediseases.info.nih.gov/diseases/10643/index "DO", https://www.ncbi.nlm.nih.gov/pubmed/31174229 "DO"]
synonym: "GIST" EXACT []
synonym: "paraganglioma and gastric stromal sarcoma" EXACT []
synonym: "paraganglioma and gastrointestinal stromal tumor" EXACT []
xref: GARD:10643
xref: MESH:C564650
xref: ORDO:97286
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050773 ! paraganglioma
is_a: DOID:225 ! syndrome
is_a: DOID:9253 ! gastrointestinal stromal tumor

[Term]
id: DOID:0080534
name: myxofibrosarcoma
def: "A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. (DO)" [https://www.mayoclinic.org/diseases-conditions/myxofibrosarcoma/cdc-20387740 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27591498 "DO"]
synonym: "fibromyxoid sarcoma" EXACT []
synonym: "LOW GRADE FIBROMYXOID SARCOMA" NARROW []
xref: EFO:1000328
xref: ICDO:8811/3
xref: NCI:C6496
xref: ORDO:79105
is_a: DOID:1115 ! sarcoma

[Term]
id: DOID:0080535
name: hypermanganesemia with dystonia
def: "A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese. (DO)" [https://ghr.nlm.nih.gov/condition/hypermanganesemia-with-dystonia#resources "DO"]
xref: MIM:PS613280
is_a: DOID:543 ! dystonia
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:0080536
name: hypermanganesemia with dystonia 1
alt_id: DOID:9003227
alt_id: MESH:C548016
def: "A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22341972 "DO"]
synonym: "dystonia-parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease" EXACT []
synonym: "Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia" EXACT []
synonym: "Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia" EXACT []
synonym: "HMDPC" EXACT []
synonym: "HMNDYT1" EXACT []
synonym: "Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis" EXACT []
synonym: "parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease" EXACT []
xref: MIM:613280
is_a: DOID:0080535 ! hypermanganesemia with dystonia
is_a: DOID:5082 ! liver cirrhosis
is_a: DOID:8432 ! polycythemia

[Term]
id: DOID:0080537
name: hypermanganesemia with dystonia 2
def: "A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27231142 "DO"]
synonym: "HMNDYT2" EXACT []
synonym: "SLC39A14-RELATED CONDITION" BROAD []
xref: MIM:617013
is_a: DOID:0080535 ! hypermanganesemia with dystonia

[Term]
id: DOID:0080538
name: Sweeney-Cox syndrome
def: "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28369379 "DO"]
synonym: "SWCOS" EXACT []
xref: MIM:617746
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0080539
name: PEHO syndrome
alt_id: MIM:260565
def: "A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. (DO)" [https://en.wikipedia.org/wiki/PEHO_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/28335020 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30385166 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31048081 "DO"]
synonym: "infantile cerebellooptic atrophy" EXACT []
synonym: "PEHO" EXACT []
synonym: "PEHO-Like Syndrome" EXACT []
synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy" EXACT []
xref: GARD:4264
xref: MESH:C536317
xref: ORDO:2836
is_a: DOID:0050562 ! West syndrome
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:4724 ! brain edema
is_a: DOID:5723 ! optic atrophy

[Term]
id: DOID:0080540
name: galactosialidosis
alt_id: MIM:256540
def: "A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13. (DO)" [https://ghr.nlm.nih.gov/condition/galactosialidosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/28603679 "DO"]
synonym: "cathepsin A deficiency" EXACT []
synonym: "COMBINED DEFICIENCY OF SIALIDASE AND BETA GALACTOSIDASE" EXACT []
synonym: "deficiency of cathepsin A" EXACT []
synonym: "Galactosialidosis, Adult" NARROW []
synonym: "Galactosialidosis, early Infantile" NARROW []
synonym: "Galactosialidosis, Late Infantile" NARROW []
synonym: "Goldberg syndrome" EXACT []
synonym: "GSL" EXACT []
synonym: "Lysosomal Protective Protein Deficiency" EXACT []
synonym: "Lysosomal protective protein, deficiency of" EXACT []
synonym: "NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION" EXACT []
synonym: "neuraminidase deficiency with beta-galactosidase deficiency" EXACT []
synonym: "NGBE" EXACT []
synonym: "PPCA deficiency" EXACT []
synonym: "protective protein-cathepsin A deficiency" EXACT []
xref: GARD:3953
xref: MESH:C536411
xref: NCI:C129928
xref: ORDO:351
is_a: DOID:3211 ! lysosomal storage disease

[Term]
id: DOID:0080541
name: hyperprolinemia
def: "An amno acid metabolic disorder that is characterized by the excess of proline in the blood. (DO)" [https://en.wikipedia.org/wiki/Hyperprolinemia "DO", https://ghr.nlm.nih.gov/condition/hyperprolinemia "DO"]
synonym: "hyperprolinemias" EXACT []
synonym: "prolinemia" EXACT []
synonym: "prolinuria" EXACT []
synonym: "pyrroline carboxylate dehydrogenase deficiency" EXACT []
xref: GARD:2847
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0080542
name: hyperprolinemia type 1
def: "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. (DO)" [https://ghr.nlm.nih.gov/condition/hyperprolinemia "DO"]
synonym: "HPI" EXACT []
synonym: "Hyperprolinemia Type I" EXACT []
synonym: "HYRPRO1" EXACT []
synonym: "proline dehydrogenase deficiency" EXACT []
synonym: "proline hydrogenase deficiency" EXACT []
synonym: "proline oxidase deficiency" EXACT []
synonym: "pyrroline-5-carboxylate dehydrogenase deficiency" EXACT []
xref: MIM:239500
xref: ORDO:419
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080541 ! hyperprolinemia

[Term]
id: DOID:0080543
name: hyperprolinemia type 2
alt_id: MIM:239510
def: "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. (DO)" [https://ghr.nlm.nih.gov/condition/hyperprolinemia "DO"]
synonym: "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency" EXACT []
synonym: "1-pyrroline-5-carboxylate dehydrogenase deficiency" EXACT []
synonym: "deficiency of pyrroline-5-carboxylate reductase" EXACT []
synonym: "HPII" EXACT []
synonym: "hyperprolinemia type II" EXACT []
synonym: "HYRPRO2" EXACT []
synonym: "pyrroline-5-carboxylate dehydrogenase deficiency" EXACT []
xref: MESH:C538385
xref: ORDO:79101
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080541 ! hyperprolinemia

[Term]
id: DOID:0080544
name: hyper IgM syndrome
def: "A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. (DO)" [https://rarediseases.org/rare-diseases/hyper-igm-syndrome/ "DO", https://www.niaid.nih.gov/diseases-conditions/types-pidds "DO"]
synonym: "HIGM" EXACT []
synonym: "hyper-IgM immunodeficiency syndrome" EXACT []
synonym: "hyper-IgM immunodeficiency syndromes" EXACT []
synonym: "hyper-IgM syndromes" EXACT []
synonym: "immunodeficiency with hyper-IgM" EXACT []
synonym: "immunodeficiency with hyper-IgM syndrome" EXACT []
xref: ICD10CM:D80.5
xref: MESH:D053306
xref: MIM:PS308230
xref: NCI:C84783
is_a: DOID:2959 ! hyperimmunoglobulin syndrome

[Term]
id: DOID:0080545
name: hyper IgE syndrome
def: "A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. (DO)" [https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome#synonyms "DO"]
synonym: "autosomal recessive HIES" NARROW []
synonym: "HIE Syndrome" EXACT []
synonym: "HIE syndromes" EXACT []
synonym: "Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive" NARROW []
synonym: "Hyper IgE Syndrome, Autosomal Recessive" NARROW []
synonym: "Hyper-IgE Syndromes" EXACT []
synonym: "Hyperimmunoglobulinemia E Syndrome" EXACT []
synonym: "Hyperimmunoglobulinemia E Syndromes" EXACT []
synonym: "hyperimmunoglobulin E recurrent infection syndrome" EXACT []
synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" NARROW []
synonym: "hyper immunoglobulin E syndrome" EXACT []
synonym: "hyperimmunoglobulin E syndrome" EXACT []
synonym: "hyper immunoglobulin E syndrome, autosomal recessive" NARROW []
xref: GARD:10956
xref: MESH:D007589
xref: MIM:PS147060
xref: NCI:C3144
is_a: DOID:2959 ! hyperimmunoglobulin syndrome
is_a: DOID:3262 ! phagocyte bactericidal dysfunction

[Term]
id: DOID:0080546
name: non-alcoholic fatty liver
def: "A metabolic dysfunction-associated steatotic liver disease characterized by the absence of inflammation and hepatocyte injury in the form of hepatocyte ballooning. (DO)" [https://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881593/ "DO"]
synonym: "NAFL" EXACT []
synonym: "nonalcoholic fatty liver" EXACT []
xref: EFO:0003095
xref: EFO:1001248
is_a: DOID:0080208 ! metabolic dysfunction-associated steatotic liver disease

[Term]
id: DOID:0080547
name: metabolic dysfunction-associated steatohepatitis
def: "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis. (DO)" [https://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease "DO", https://pubmed.ncbi.nlm.nih.gov/37364816/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881593/ "DO", https://www.niddk.nih.gov/health-information/liver-disease/nafld-nash "DO"]
synonym: "MASH" EXACT []
synonym: "NASH" EXACT []
synonym: "nonalcoholic steatohepatitides" EXACT []
synonym: "non-alcoholic steatohepatitis" EXACT []
synonym: "nonalcoholic steatohepatitis" EXACT []
xref: EFO:1001249
is_a: DOID:0080208 ! metabolic dysfunction-associated steatotic liver disease

[Term]
id: DOID:0080548
name: Noonan syndrome with multiple lentigines 1
def: "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24. (DO)" [https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#genes "DO"]
synonym: "LEOPARD syndrome 1" EXACT []
synonym: "LPRD1" EXACT []
xref: MIM:151100
is_a: DOID:14291 ! Noonan syndrome with multiple lentigines

[Term]
id: DOID:0080549
name: Noonan syndrome with multiple lentigines 2
def: "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25. (DO)" [https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance "DO", https://www.ncbi.nlm.nih.gov/pubmed/17603483 "DO"]
synonym: "LEOPARD syndrome 2" EXACT []
synonym: "LPRD2" EXACT []
xref: MESH:C537117
xref: MIM:611554
xref: MONDO:0012691
is_a: DOID:14291 ! Noonan syndrome with multiple lentigines

[Term]
id: DOID:0080550
name: Noonan syndrome with multiple lentigines 3
def: "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. (DO)" [https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance "DO"]
synonym: "LEOPARD syndrome 3" EXACT []
synonym: "LPRD3" EXACT []
xref: MIM:613707
xref: MONDO:0013380
is_a: DOID:14291 ! Noonan syndrome with multiple lentigines

[Term]
id: DOID:0080551
name: Naxos disease
alt_id: MIM:601214
def: "A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. (DO)" [https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes "DO", https://rarediseases.info.nih.gov/diseases/9795/disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/29747658 "DO"]
synonym: "arrhythmogenic right ventricular cardiomyopathy with skin, hair, and nail abnormalities" EXACT []
synonym: "keratosis palmoplantaris with arrhythmogenic cardiomyopathy" EXACT []
synonym: "Mal de Naxos" EXACT []
synonym: "NXD" EXACT []
synonym: "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair" EXACT []
synonym: "woolly hair, palmoplantar keratoderma, and cardiac abnormalities" EXACT []
xref: GARD:9795
xref: MESH:C538346
xref: ORDO:34217
is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy
is_a: DOID:421 ! hair disease

[Term]
id: DOID:0080552
name: congenital disorder of glycosylation Ia
def: "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. (DO)" [https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation "DO"]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1A" EXACT []
synonym: "carbohydrate-deficient glycoprotein syndrome type Ia" EXACT []
synonym: "CDG1A" EXACT []
synonym: "CDG Ia" EXACT []
synonym: "CDGIa" EXACT []
synonym: "congenital disorder of glycosylation 1a" EXACT []
synonym: "congenital disorder of glycosylation type 1A" EXACT []
synonym: "congenital disorder of glycosylation type Ia" EXACT []
synonym: "Jaeken syndrome" EXACT []
synonym: "phosphomannomutase 2 deficiency" EXACT []
synonym: "PMM2-CDG" EXACT []
synonym: "PMM2-congenital disorder of glycosylation" EXACT []
xref: GARD:9826
xref: MESH:C535739
xref: MIM:212065
xref: MONDO:0008907
xref: NCI:C126868
xref: ORDO:79318
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080553
name: congenital disorder of glycosylation Iaa
alt_id: RDO:9001414
def: "A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25066056 "DO"]
synonym: "CDG1AA" EXACT []
synonym: "congenital disorder of glycosylation 1aa" EXACT []
synonym: "congenital disorder of glycosylation type 1AA" EXACT []
synonym: "congenital disorder of glycosylation type Iaa" EXACT []
xref: MIM:617082
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease
created_by: rgd
creation_date: 2017-09-18T16:45:06Z

[Term]
id: DOID:0080554
name: congenital disorder of glycosylation Ib
alt_id: MIM:602579
alt_id: RDO:0001029
def: "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24. (DO)" [https://www.omim.org/entry/602579 "DO"]
synonym: "carbohydrate-deficient glycoprotein syndrome type 1B" EXACT []
synonym: "CDG1B" EXACT []
synonym: "CDG, GASTROINTESTINAL TYPE" EXACT []
synonym: "CDG Ib" EXACT []
synonym: "CDGIb" EXACT []
synonym: "congenital disorder of glycosylation 1b" EXACT []
synonym: "Congenital Disorder of Glycosylation Type 1B" EXACT []
synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib" EXACT []
synonym: "Mannosephosphate isomerase deficiency" EXACT []
synonym: "MPI DEFICIENCY" EXACT []
synonym: "Protein-losing enteropathy-hepatic fibrosis syndrome" EXACT []
synonym: "Saguenay-Lac Saint-Jean syndrome" EXACT []
synonym: "SLSJ syndrome" EXACT []
xref: GARD:9830
xref: MESH:C535740
xref: ORDO:79319
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080555
name: congenital disorder of glycosylation Ic
alt_id: MIM:603147
def: "A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. (DO)" [https://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation "DO", https://www.ncbi.nlm.nih.gov/pubmed/16007612 "DO"]
synonym: "carbohydrate-deficient glycoprotein syndrome type I, with deficient glycosylation of dolichol-linked oligosaccharide" EXACT []
synonym: "carbohydrate-deficient glycoprotein syndrome type V" EXACT []
synonym: "CDG1C" EXACT []
synonym: "CDG Ic" EXACT []
synonym: "CDGIc" EXACT []
synonym: "CDGS5" EXACT []
synonym: "congenital disorder of glycosylation 1c" EXACT []
synonym: "congenital disorder of glycosylation type 1C" EXACT []
synonym: "congenital disorder of glycosylation, type Ic" EXACT []
xref: GARD:9829
xref: MESH:C535741
xref: NCI:C126869
xref: ORDO:79320
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080556
name: congenital disorder of glycosylation Id
alt_id: MIM:601110
def: "A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28108845 "DO"]
synonym: "carbohydrate-deficient glycoprotein syndrome, type 4" EXACT []
synonym: "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV" EXACT []
synonym: "CDG1D" EXACT []
synonym: "CDG Id" EXACT []
synonym: "CDGId" EXACT []
synonym: "CDGS4" EXACT []
synonym: "CDGS, TYPE IV" EXACT []
synonym: "congenital disorder of glycosylation 1d" EXACT []
synonym: "congenital disorder of glycosylation type 1D" EXACT []
synonym: "congenital disorder of glycosylation type ID" EXACT []
xref: GARD:9827
xref: MESH:C535742
xref: NCI:C126870
xref: ORDO:79321
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080557
name: congenital disorder of glycosylation Ie
alt_id: MIM:608799
alt_id: RDO:0001032
def: "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23856421 "DO"]
synonym: "CDG1E" EXACT []
synonym: "CDG Ie" EXACT []
synonym: "CDGIe" EXACT []
synonym: "congenital disorder of glycosylation 1e" EXACT []
synonym: "congenital disorder of glycosylation type 1E" EXACT []
synonym: "congenital disorder of glycosylation, type IE" EXACT []
xref: GARD:9831
xref: MESH:C535743
xref: NCI:C126871
xref: ORDO:79322
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080558
name: congenital disorder of glycosylation If
alt_id: MIM:609180
alt_id: RDO:0001033
def: "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11733556 "DO"]
synonym: "CDG1F" EXACT []
synonym: "CDG If" EXACT []
synonym: "CDGIf" EXACT []
synonym: "congenital disorder of glycosylation 1f" EXACT []
synonym: "congenital disorder of glycosylation type 1F" EXACT []
synonym: "congenital disorder of glycosylation, type IF" EXACT []
xref: GARD:9832
xref: MESH:C535744
xref: NCI:C126872
xref: ORDO:79323
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080559
name: congenital disorder of glycosylation Ig
alt_id: MIM:607143
def: "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. (DO)" [https://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation "DO", https://www.ncbi.nlm.nih.gov/pubmed/17506107 "DO"]
synonym: "ALG12-congenital disorder of glycosylation" EXACT []
synonym: "CDG1G" EXACT []
synonym: "CDG Ig" EXACT []
synonym: "CDGIg" EXACT []
synonym: "congenital disorder of glycosylation 1g" EXACT []
synonym: "congenital disorder of glycosylation type 1G" EXACT []
synonym: "congenital disorder of glycosylation, type IG" EXACT []
xref: GARD:9833
xref: MESH:C535745
xref: NCI:C126873
xref: ORDO:79324
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080560
name: congenital disorder of glycosylation Ih
alt_id: MIM:608104
def: "A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28108845 "DO"]
synonym: "CDG1H" EXACT []
synonym: "CDG IH" EXACT []
synonym: "CDGIH" EXACT []
synonym: "congenital disorder of glycosylation 1h" EXACT []
synonym: "congenital disorder of glycosylation type 1H" EXACT []
synonym: "congenital disorder of glycosylation type IH" EXACT []
xref: GARD:9834
xref: MESH:C535746
xref: ORDO:79325
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080561
name: congenital disorder of glycosylation Ii
alt_id: MIM:607906
def: "A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12684507 "DO"]
synonym: "CDG1I" EXACT []
synonym: "CDG Ii" EXACT []
synonym: "CDGIi" EXACT []
synonym: "congenital disorder of glycosylation 1i" EXACT []
synonym: "congenital disorder of glycosylation type 1I" EXACT []
synonym: "congenital disorder of glycosylation type Ii" EXACT []
synonym: "congenital disorders of glycosylation type Ii" EXACT []
xref: GARD:9836
xref: MESH:C535747
xref: ORDO:79326
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080562
name: congenital disorder of glycosylation Ij
alt_id: MIM:608093
def: "A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12872255 "DO"]
synonym: "CDG1J" EXACT []
synonym: "CDG Ij" EXACT []
synonym: "CDGIj" EXACT []
synonym: "congenital disorder of glycosylation 1j" EXACT []
synonym: "congenital disorder of glycosylation type 1J" EXACT []
synonym: "congenital disorder of glycosylation, type IJ" EXACT []
xref: GARD:9837
xref: MESH:C535748
xref: NCI:C126874
xref: ORDO:86309
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080563
name: congenital disorder of glycosylation Ik
alt_id: MIM:608540
def: "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. (DO)" [https://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation "DO", https://www.ncbi.nlm.nih.gov/pubmed/28108845 "DO"]
synonym: "CDG1K" EXACT []
synonym: "CDG Ik" EXACT []
synonym: "CDGIk" EXACT []
synonym: "congenital disorder of glycosylation 1k" EXACT []
synonym: "congenital disorder of glycosylation, type 1K" EXACT []
synonym: "congenital disorder of glycosylation, type IK" EXACT []
xref: GARD:9838
xref: MESH:C535749
xref: ORDO:79327
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080564
name: congenital disorder of glycosylation Il
alt_id: MIM:608776
def: "A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26453364 "DO"]
synonym: "ALG9 CONGENITAL DISORDER OF GLYCOSYLATION" EXACT []
synonym: "CDG1L" EXACT []
synonym: "CDG Il" EXACT []
synonym: "CDGIl" EXACT []
synonym: "congenital disorder of glycosylation 1l" EXACT []
synonym: "congenital disorder of glycosylation, type 1L" EXACT []
synonym: "congenital disorder of glycosylation, type IL" EXACT []
xref: GARD:9839
xref: MESH:C535750
xref: ORDO:79328
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080565
name: congenital disorder of glycosylation Im
alt_id: MIM:610768
def: "A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. (DO)" [https://ghr.nlm.nih.gov/condition/dolk-congenital-disorder-of-glycosylation "DO", https://www.ncbi.nlm.nih.gov/pubmed/17273964 "DO"]
synonym: "CDG1m" EXACT []
synonym: "CDG Im" EXACT []
synonym: "CDGIm" EXACT []
synonym: "congenital disorder of glycosylation 1m" EXACT []
synonym: "Congenital Disorder of Glycosylation Type 1M" EXACT []
synonym: "congenital disorder of glycosylation, type Im" EXACT []
synonym: "DK1 DEFICIENCY" EXACT []
synonym: "dolichol kinase deficiency" EXACT []
synonym: "DOLK-congenital disorder of glycosylation" EXACT []
xref: GARD:12393
xref: MESH:C563666
xref: ORDO:91131
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080566
name: congenital disorder of glycosylation In
alt_id: MIM:612015
def: "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23111317 "DO"]
synonym: "CDG1N" EXACT []
synonym: "CDG In" EXACT []
synonym: "CDGIn" EXACT []
synonym: "congenital disorder of glycosylation 1n" EXACT []
synonym: "congenital disorder of glycosylation, type 1N" EXACT []
synonym: "congenital disorder of glycosylation, type In" EXACT []
xref: GARD:12394
xref: MESH:C567437
xref: ORDO:244310
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080567
name: congenital disorder of glycosylation Ip
def: "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22213132 "DO"]
synonym: "ALG11-congenital disorder of glycosylation" EXACT []
synonym: "CDG1P" EXACT []
synonym: "congenital disorder of glycosylation 1p" EXACT []
synonym: "congenital disorder of glycosylation, type 1P" EXACT []
synonym: "congenital disorder of glycosylation, type Ip" EXACT []
xref: GARD:12396
xref: MIM:613661
xref: MONDO:0013349
xref: ORDO:280071
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080568
name: congenital disorder of glycosylation Iq
def: "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20637498 "DO"]
synonym: "CDG1Q" EXACT []
synonym: "CDG Iq" EXACT []
synonym: "CDGIq" EXACT []
synonym: "COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES" EXACT []
synonym: "congenital disorder of glycosylation 1q" EXACT []
synonym: "Congenital Disorder of Glycosylation Type 1Q" EXACT []
synonym: "congenital disorder of glycosylation, type Iq" EXACT []
xref: GARD:12397
xref: MIM:612379
xref: ORDO:324737
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080569
name: congenital disorder of glycosylation Ir
def: "A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22305527 "DO"]
synonym: "CDG1R" EXACT []
synonym: "congenital disorder of glycosylation 1R" EXACT []
synonym: "congenital disorder of glycosylation type 1R" EXACT []
synonym: "congenital disorder of glycosylation, type Ir" EXACT []
synonym: "DDOST-congenital disorder of glycosylation" EXACT []
xref: GARD:12398
xref: MIM:614507
xref: MONDO:0013789
xref: ORDO:300536
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080570
name: congenital disorder of glycosylation It
alt_id: MIM:614921
def: "A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24499211 "DO"]
synonym: "CDG1T" EXACT []
synonym: "CDG It" EXACT []
synonym: "CDGIt" EXACT []
synonym: "congenital disorder of glycosylation 1t" EXACT []
synonym: "congenital disorder of glycosylation type 1T" EXACT []
synonym: "congenital disorder of glycosylation, type IT" EXACT []
synonym: "glycogen storage disease XIV" EXACT []
synonym: "GSD14" EXACT []
synonym: "GSD XIV" EXACT []
synonym: "PGM1 deficiency" EXACT []
synonym: "phosphoglucomutase 1 deficiency" EXACT []
xref: MESH:C567859
xref: ORDO:319646
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:0080571
name: congenital disorder of glycosylation Iu
def: "A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23109149 "DO"]
synonym: "CDG1U" EXACT []
synonym: "CDG IU" EXACT []
synonym: "CDGIU" EXACT []
synonym: "congenital disorder of glycosylation 1u" EXACT []
synonym: "congenital disorder of glycosylation type 1U" EXACT []
synonym: "congenital disorder of glycosylation, type Iu" EXACT []
xref: GARD:12416
xref: MIM:615042
xref: ORDO:329178
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0080572
name: congenital disorder of glycosylation Iw
alt_id: MIM:619714
def: "A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23842455 "DO"]
synonym: "CDG1W" EXACT []
synonym: "CDG1WAD" NARROW []
synonym: "CDG1WAR" NARROW []
synonym: "CDG Iw" EXACT []
synonym: "CDGIw" EXACT []
synonym: "CDG syndrome type Iw" EXACT []
synonym: "congenital disorder of glycosylation 1w" EXACT []
synonym: "congenital disorder of glycosylation type 1W" EXACT []
synonym: "congenital disorder of glycosylation, type Iw" EXACT []
synonym: "congenital disorder of glycosylation, type Iw, autosomal dominant" NARROW []
synonym: "congenital disorder of glycosylation, type Iw, autosomal recessive" NARROW []
xref: MIM:615596
xref: ORDO:370921
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease
created_by: rgd
creation_date: 2017-12-01T00:00:00Z

[Term]
id: DOID:0080573
name: congenital disorder of glycosylation Ix
alt_id: MIM:615597
def: "A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23842455 "DO"]
synonym: "CDG1X" EXACT []
synonym: "CDG Ix" EXACT []
synonym: "CDGIx" EXACT []
synonym: "congenital disorder of glycosylation 1x" EXACT []
synonym: "congenital disorder of glycosylation type 1X" EXACT []
synonym: "congenital disorder of glycosylation, type Ix" EXACT []
xref: MESH:C535751
xref: ORDO:370924
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:0080574
name: congenital disorder of glycosylation Iy
def: "A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26264460 "DO"]
synonym: "CDG1Y" EXACT []
synonym: "CDG IY" EXACT []
synonym: "CDGIy" EXACT []
synonym: "congenital disorder of glycosylation 1y" EXACT []
synonym: "congenital disorder of glycosylation type 1Y" EXACT []
synonym: "congenital disorder of glycosylation, type Iy" EXACT []
synonym: "SSR4-congenital disorder of glycosylation" EXACT []
xref: GARD:12405
xref: MIM:300934
xref: MONDO:0010490
xref: ORDO:370927
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0080575
name: Larsen-like syndrome B3GAT3 type
alt_id: MIM:245600
def: "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654953/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/25893793 "DO"]
synonym: "autosomal recessive Larsen syndrome" EXACT []
synonym: "JDSCD" EXACT []
synonym: "Larsen syndrome, recessive" EXACT []
synonym: "Larsen syndrome, recessive type" EXACT []
synonym: "multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects" EXACT []
synonym: "MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS" NARROW []
synonym: "multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects" EXACT []
synonym: "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT []
xref: MESH:C537874
xref: ORDO:284139
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9000896 ! Larsen-Like Syndromes
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2019-03-19T15:02:22Z

[Term]
id: DOID:0080576
name: spondyloepimetaphyseal dysplasia, Genevieve-type
alt_id: MIM:610442
def: "A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27213289 "DO"]
synonym: "NANS deficiency" EXACT []
synonym: "SEMDG" EXACT []
synonym: "SEMD, Genevieve type" EXACT []
xref: GARD:10057
xref: MESH:C535785
xref: ORDO:168454
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:9004507 ! Hirsutism
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:0080577
name: polygenic disease
def: "A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P "DO"]
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0080578
name: digenic disease
def: "A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778050/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/28977688 "DO"]
is_a: DOID:0080577 ! polygenic disease

[Term]
id: DOID:0080579
name: 3-methylcrotonyl-CoA carboxylase 1 deficiency
def: "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27. (DO)" [https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency "DO"]
synonym: "3 alpha methylcrotonylglycinuria 1" EXACT []
synonym: "3-Methylcrotonylglycinuria I" EXACT []
synonym: "MCC1D" EXACT []
synonym: "MCC1 deficiency" EXACT []
synonym: "MCCD Type 1" EXACT []
synonym: "methylcrotonoyl-CoA carboxylase 1 deficiency" EXACT []
synonym: "methylcrotonylglycinuria type I" EXACT []
xref: MESH:C535308
xref: MIM:210200
xref: MONDO:0008861
is_a: DOID:0050710 ! 3-methylcrotonyl-CoA carboxylase deficiency

[Term]
id: DOID:0080580
name: 3-methylcrotonyl-CoA carboxylase 2 deficiency
def: "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13. (DO)" [https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency "DO"]
synonym: "3 alpha methylcrotonyl-coa carboxylase 2 deficiency" EXACT []
synonym: "3 alpha methylcrotonylglycinuria 2" EXACT []
synonym: "3-methylcrotonylglycinuria II" EXACT []
synonym: "MCC2D" EXACT []
synonym: "MCC2 deficiency" EXACT []
synonym: "methylcrotonoyl-CoA carboxylase 2 deficiency" EXACT []
synonym: "methylcrotonylglycinuria type 2" EXACT []
synonym: "methylcrotonylglycinuria, type II" EXACT []
xref: MESH:C535309
xref: MIM:210210
xref: MONDO:0008862
is_a: DOID:0050710 ! 3-methylcrotonyl-CoA carboxylase deficiency

[Term]
id: DOID:0080581
name: hyperekplexia 4
def: "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29390050 "DO"]
synonym: "HKPX4" EXACT []
xref: MIM:618011
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060695 ! hyperekplexia

[Term]
id: DOID:0080582
name: hypotrichosis 14
def: "A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30401459 "DO"]
synonym: "HYPT14" EXACT []
xref: MIM:618275
xref: MONDO:0032649
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:0080583
name: Wolfram syndrome, mitochondrial form
alt_id: MIM:598500
def: "A Wolfram syndrome that has_material_basis_in mutation in mtDNA. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8383698 "DO"]
synonym: "diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form" EXACT []
synonym: "DIDMOAD, mitochondrial form" EXACT []
synonym: "DIDMOAD syndrome, mitochondrial form" EXACT []
xref: MESH:C564012
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10632 ! Wolfram syndrome
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:0080584
name: autosomal dominant Wolfram syndrome
alt_id: MIM:614296
def: "A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18544103 "DO"]
synonym: "HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION" EXACT []
synonym: "WFSL" EXACT []
synonym: "WOLFRAM-LIKE DISORDER" EXACT []
synonym: "Wolfram-like syndrome, autosomal dominant" EXACT []
xref: EFO:0009063
xref: MESH:C565631
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10632 ! Wolfram syndrome

[Term]
id: DOID:0080585
name: Van Maldergem syndrome 1
def: "A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24056717 "DO"]
synonym: "DCHS1-RELATED CONDITION" BROAD []
synonym: "DCHS1-RELATED DISORDER" BROAD []
synonym: "VMLDS1" EXACT []
xref: MIM:601390
xref: NCI:C188993
is_a: DOID:0060238 ! Van Maldergem syndrome

[Term]
id: DOID:0080586
name: Van Maldergem syndrome 2
def: "A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24056717 "DO"]
synonym: "FAT4-RELATED CONDITION" BROAD []
synonym: "VMLDS2" EXACT []
xref: MIM:615546
xref: NCI:C188994
is_a: DOID:0060238 ! Van Maldergem syndrome
created_by: slaulede
creation_date: 2018-04-18T11:21:41Z

[Term]
id: DOID:0080587
name: congenital myasthenic syndrome 22
def: "A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28726805 "DO"]
synonym: "CMS22" EXACT []
synonym: "PREPL DEFICIENCY" EXACT []
xref: MIM:616224
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome

[Term]
id: DOID:0080588
name: agammaglobulinemia 5
def: "An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14660746 "DO"]
synonym: "AGM5" EXACT []
synonym: "autosomal dominant agammaglobulinemia 5" EXACT []
synonym: "autosomal dominant agammaglobulinemia due to LRRC8A defect" EXACT []
synonym: "LRRC8A-RELATED CONDITION" EXACT []
xref: MIM:613506
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2583 ! agammaglobulinemia

[Term]
id: DOID:0080589
name: Klippel-Feil syndrome 1
def: "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18425797 "DO"]
synonym: "KFS1" EXACT []
synonym: "Klippel-Feil syndrome 1, autosomal dominant" EXACT []
synonym: "Klippel-Feil syndrome 1, dominant type" EXACT []
xref: MIM:118100
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10426 ! Klippel-Feil syndrome

[Term]
id: DOID:0080590
name: Klippel-Feil syndrome 2
def: "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23290072 "DO"]
synonym: "KFS2" EXACT []
synonym: "Klippel-Feil syndrome 2, autosomal recessive" EXACT []
xref: MIM:214300
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10426 ! Klippel-Feil syndrome

[Term]
id: DOID:0080591
name: Klippel-Feil syndrome 3
def: "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19864492 "DO"]
synonym: "KFS3" EXACT []
synonym: "Klippel-Feil syndrome 3, autosomal dominant" EXACT []
xref: MIM:613702
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10426 ! Klippel-Feil syndrome

[Term]
id: DOID:0080592
name: Klippel-Feil syndrome 4
def: "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25748484 "DO"]
synonym: "KFS4" EXACT []
synonym: "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism" EXACT []
synonym: "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism" EXACT []
synonym: "MYO18B-RELATED CONDITION" EXACT []
xref: MIM:616549
xref: ORDO:447974
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10426 ! Klippel-Feil syndrome
is_a: DOID:3191 ! nemaline myopathy
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0080593
name: orofacial cleft 6
def: "An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17702008 "DO"]
synonym: "nonsyndromic cleft lip with or without cleft palate 6" RELATED []
synonym: "OFC6" EXACT []
synonym: "orofacial cleft 6, susceptibility to" RELATED []
xref: MIM:608864
is_a: DOID:0050567 ! orofacial cleft
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0080594
name: hyper IgE recurrent infection syndrome 2
def: "A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. (DO)" [https://ghr.nlm.nih.gov/condition/dock8-immunodeficiency-syndrome#synonyms "DO", https://www.ncbi.nlm.nih.gov/pubmed/19776401 "DO"]
synonym: "DOCK8-RELATED CONDITION" EXACT []
synonym: "HIES2" EXACT []
synonym: "hyper-IgE recurrent infection syndrome 2, autosomal recessive" EXACT []
synonym: "hyper-IgE syndrome 2, autosomal recessive, with recurrent infections" EXACT []
xref: GARD:2816
xref: MIM:243700
xref: ORDO:217390
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080545 ! hyper IgE syndrome

[Term]
id: DOID:0080595
name: hyper IgE recurrent infection syndrome 3
def: "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29907690 "DO"]
synonym: "HIES3" EXACT []
synonym: "hyper-IgE recurrent infection syndrome 3, autosomal recessive" EXACT []
synonym: "hyper-IgE syndrome 3, autosomal recessive, with recurrent infections" EXACT []
xref: MIM:618282
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080545 ! hyper IgE syndrome

[Term]
id: DOID:0080596
name: hyper IgE recurrent infection syndrome 4
alt_id: MIM:618523
alt_id: MIM:619752
def: "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28747427 "DO"]
synonym: "HIES4" EXACT []
synonym: "HIES4A" NARROW []
synonym: "HIES4B" NARROW []
synonym: "hyper-IgE recurrent infection syndrome 4A, autosomal dominant" NARROW []
synonym: "hyper-IgE recurrent infection syndrome 4, autosomal recessive" NARROW []
synonym: "hyper-IgE recurrent infection syndrome 4B, autosomal recessive" NARROW []
synonym: "hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections" NARROW []
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080545 ! hyper IgE syndrome

[Term]
id: DOID:0080597
name: Kleefstra syndrome
def: "A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. (DO)" [http://ghr.nlm.nih.gov/condition/kleefstra-syndrome "DO"]
xref: MIM:PS610253
xref: NCI:C129976
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0080598
name: Kleefstra syndrome 2
def: "A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29069077 "DO"]
synonym: "KLEEFSTRA SYNDROME DUE TO A POINT MUTATION" NARROW []
synonym: "KLEFS2" EXACT []
synonym: "KMT2C-RELATED CONDITION" EXACT []
xref: MIM:617768
xref: ORDO:261652
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080597 ! Kleefstra syndrome
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:0080599
name: Coronavirus infectious disease
def: "A viral infectious disease that has_material_basis_in Coronavirus. (DO)" [https://www.cdc.gov/coronavirus/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK7782/ "DO", https://www.who.int/health-topics/coronavirus "DO"]
synonym: "Coronavirus infection" EXACT []
synonym: "Coronavirus Infections" EXACT []
xref: EFO:0007224
xref: MESH:D018352
is_a: DOID:9001645 ! Coronaviridae Infections

[Term]
id: DOID:0080600
name: COVID-19
def: "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. (DO)" [https://www.cdc.gov/coronavirus/2019-ncov/about/index.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=32007143 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=32007145 "DO", https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=2697049 "DO", https://www.who.int/emergencies/diseases/novel-coronavirus-2019 "DO"]
synonym: "2019-nCoV infection" EXACT []
synonym: "2019 Novel Coronavirus (2019-nCoV)" EXACT []
synonym: "COVID19" EXACT []
synonym: "COVID-19–ASSOCIATED MULTISYSTEM INFLAMMATORY SYNDROME IN ADULTS" RELATED []
synonym: "OAS1 POLYMORPHISM" RELATED []
synonym: "SARS-CoV-2 infection" EXACT []
synonym: "SUSCEPTIBILITY TO SEVERE CORONAVIRUS DISEASE (COVID-19)" RELATED []
synonym: "Wuhan coronavirus infection" EXACT []
synonym: "Wuhan seafood market pneumonia virus infection" EXACT []
xref: ICD10CM:U07.1
xref: MESH:D000086382
xref: MONDO:0100096
xref: NCI:C171133
is_a: DOID:0080599 ! Coronavirus infectious disease

[Term]
id: DOID:0080601
name: germ cell benign neoplasm
def: "A benign neoplasm that derives_from germ cells. (DO)" [https://en.wikipedia.org/wiki/Germ_cell_tumor "DO"]
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:9005959 ! Gonadal Tissue Neoplasms

[Term]
id: DOID:0080602
name: benign teratoma
def: "A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C67107&ns=ncit "DO"]
synonym: "benign teratomas" EXACT []
xref: ICDO:9080/1
xref: NCI:C67107
is_a: DOID:0080601 ! germ cell benign neoplasm

[Term]
id: DOID:0080603
name: ankylosing spondylitis 1
def: "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6332689 "DO"]
synonym: "SPDA1" EXACT []
synonym: "spondyloarthropathy, susceptibility to, 1" RELATED []
xref: MIM:106300
is_a: DOID:7147 ! ankylosing spondylitis

[Term]
id: DOID:0080604
name: ankylosing spondylitis 2
def: "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15234954 "DO"]
synonym: "SPDA2" EXACT []
synonym: "Spondyloarthropathy, Susceptibility to, 2" RELATED []
xref: MIM:183840
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:7147 ! ankylosing spondylitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0080605
name: ankylosing spondylitis 3
def: "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19416804 "DO"]
synonym: "SPDA3" EXACT []
synonym: "Spondyloarthropathy, Susceptibility to, 3" RELATED []
xref: MIM:613238
is_a: DOID:7147 ! ankylosing spondylitis

[Term]
id: DOID:0080606
name: anterior segment dysgenesis 1
def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"]
synonym: "ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES" EXACT []
synonym: "ASGD1" EXACT []
synonym: "PITX3-RELATED CONDITION" BROAD []
xref: MIM:107250
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060648 ! anterior segment dysgenesis

[Term]
id: DOID:0080607
name: anterior segment dysgenesis 2
def: "An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21150893 "DO"]
xref: MIM:610256
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060648 ! anterior segment dysgenesis
created_by: rgd
creation_date: 2017-12-04T00:00:00Z

[Term]
id: DOID:0080608
name: anterior segment dysgenesis 3
alt_id: MIM:601631
def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"]
synonym: "ASGD3" EXACT []
synonym: "glaucoma iridogoniodysplasia, familial" EXACT []
synonym: "IGDA" EXACT []
synonym: "IRID 1" EXACT []
synonym: "IRID1" EXACT []
synonym: "iridogoniodysgenesis anomaly, autosomal dominant" EXACT []
synonym: "iridogoniodysgenesis type 1" EXACT []
synonym: "iridogoniodysgenesis type1" EXACT []
synonym: "iris hypoplasia and glaucoma" RELATED []
xref: MESH:C535535
xref: MESH:C566650
is_a: DOID:0050786 ! iridogoniodysgenesis syndrome
is_a: DOID:0060648 ! anterior segment dysgenesis
is_a: DOID:1686 ! glaucoma
created_by: rgd
creation_date: 2017-03-27T00:00:00Z

[Term]
id: DOID:0080609
name: anterior segment dysgenesis 4
alt_id: MIM:137600
def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"]
synonym: "ASGD4" EXACT []
synonym: "IHGA" EXACT []
synonym: "IRID 2" EXACT []
synonym: "IRID2" EXACT []
synonym: "iridogoniodysgenesis type 2" EXACT []
synonym: "iris hypoplasia with early onset glaucoma, autosomal dominant" EXACT []
xref: MESH:C535536
is_a: DOID:0050786 ! iridogoniodysgenesis syndrome
is_a: DOID:0060648 ! anterior segment dysgenesis
is_a: DOID:1686 ! glaucoma
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:0080610
name: anterior segment dysgenesis 5
def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"]
synonym: "anterior segment dysgenesis 5, multiple subtypes" EXACT []
synonym: "anterior segment dysgenesis 5, multiple types" EXACT []
synonym: "anterior segment dysgenesis 5, Peters anomaly subtype" EXACT []
synonym: "ASGD5" EXACT []
xref: MIM:604229
is_a: DOID:0060648 ! anterior segment dysgenesis

[Term]
id: DOID:0080611
name: anterior segment dysgenesis 6
def: "An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"]
synonym: "anterior segment dysgenesis 6, multiple subtypes" EXACT []
synonym: "ASGD6" EXACT []
synonym: "CYP1B1-RELATED CONDITION" BROAD []
synonym: "CYP1B1-related disorder" BROAD []
synonym: "IRIDO-CORNEO-TRABECULAR DYSGENESIS" NARROW []
xref: MIM:617315
is_a: DOID:0060648 ! anterior segment dysgenesis
created_by: slaulede
creation_date: 2018-04-24T12:34:51Z

[Term]
id: DOID:0080612
name: anterior segment dysgenesis 7
def: "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"]
synonym: "ASGD7" EXACT []
synonym: "COPOA" EXACT []
synonym: "sclerocornea with other ocular anomalies" EXACT []
xref: MIM:269400
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060648 ! anterior segment dysgenesis
created_by: rgd
creation_date: 2018-01-15T14:21:00Z

[Term]
id: DOID:0080613
name: anterior segment dysgenesis 8
def: "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"]
synonym: "ASGD8" EXACT []
xref: MIM:617319
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060648 ! anterior segment dysgenesis

[Term]
id: DOID:0080614
name: oculocutaneous albinism type VI
def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1. (DO)" [https://www.omim.org/entry/203100?search=albinism%20type%20ia&highlight=albinism%20ia%20type "DO"]
synonym: "OCA6" EXACT []
synonym: "oculocutaneous albinism-6" EXACT []
xref: MIM:113750
is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism

[Term]
id: DOID:0080615
name: nephroma
def: "A kidney benign neoplasm that is located_in the kidney cortex. (DO)" [https://www.stjude.org/disease/nephroma.html "DO"]
synonym: "benign nephroma" EXACT []
is_a: DOID:0080616 ! kidney cortex disease
is_a: DOID:3116 ! kidney benign neoplasm

[Term]
id: DOID:0080616
name: kidney cortex disease
def: "A kidney disease that is located_in the kidney cortex. (DO)" [https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys "DO"]
is_a: DOID:557 ! kidney disease
created_by: gthayman
creation_date: 2019-03-29T12:24:01Z

[Term]
id: DOID:0080617
name: lymph node benign neoplasm
def: "An immune system organ benign neoplasm that is located_in the lymph nodes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C3636&key=n1052416749&b=1&n=null "DO"]
xref: NCI:C3636
is_a: DOID:0060092 ! immune system organ benign neoplasm
is_a: DOID:9942 ! lymph node disease
created_by: gthayman
creation_date: 2019-05-30T12:16:44Z

[Term]
id: DOID:0080618
name: lymph node carcinoma
def: "A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [https://medlineplus.gov/ency/patientinstructions/000824.htm "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829610/ "DO"]
is_a: DOID:10619 ! lymph node cancer
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:0080619
name: auditory system benign neoplasm
def: "A sensory system benign neoplasm that is located in the auditory system. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C8417&key=n1512346313&b=1&n=null "DO"]
xref: NCI:C8417
is_a: DOID:0060096 ! sensory organ benign neoplasm
is_a: DOID:2742 ! auditory system disease

[Term]
id: DOID:0080620
name: familial glucocorticoid deficiency
def: "An adrenal cortex disease that is characterized by insufficient production of glucocorticoids. (DO)" [https://ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency "DO"]
xref: MIM:PS202200
is_a: DOID:9553 ! adrenal gland disease

[Term]
id: DOID:0080621
name: glucocorticoid deficiency 1
def: "A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19500760 "DO"]
synonym: "ACTH resistance" EXACT []
synonym: "adrenal unresponsiveness to ACTH" EXACT []
synonym: "familial glucocorticoid deficiency 1" EXACT []
synonym: "FGD1" EXACT []
synonym: "GCCD1" EXACT []
xref: MESH:C565974
xref: MIM:202200
xref: MONDO:0024536
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080620 ! familial glucocorticoid deficiency
is_a: DOID:1701 ! steroid inherited metabolic disorder
is_a: DOID:9008622 ! Adrenal Insufficiency

[Term]
id: DOID:0080622
name: peroxisome biogenesis disorder 2B
def: "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22871920 "DO"]
synonym: "PBD2B" EXACT []
xref: MIM:202370
xref: NCI:C155751
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:10588 ! adrenoleukodystrophy

[Term]
id: DOID:0080623
name: Heimler syndrome 1
alt_id: MIM:234580
def: "A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26387595 "DO"]
synonym: "bilateral sensorineural hearing loss, enamel hypoplasia and nail defects" EXACT []
synonym: "Deafness Enamel Hypoplasia Nail Defects" EXACT []
synonym: "Deafness-enamel hypoplasia-nail defects syndrome" BROAD []
synonym: "Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects" EXACT []
synonym: "Heimler syndrome" EXACT []
synonym: "HMLR1" EXACT []
synonym: "PBD1C" EXACT []
synonym: "peroxisomal biogenesis disorder 1C" EXACT []
synonym: "PEROXISOME BIOGENESIS DISORDER 1C" EXACT []
synonym: "sensorineural hearing loss, enamel hypoplasia, and nail abnormalities" EXACT []
xref: MESH:C535994
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:2187 ! amelogenesis imperfecta
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:0080624
name: Heimler syndrome 2
def: "A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16530715 "DO"]
synonym: "HMLR2" EXACT []
synonym: "PBD4C" EXACT []
synonym: "peroxisomal biogenesis disorder 4C" EXACT []
synonym: "peroxisome biogenesis disorder 4C" EXACT []
xref: MIM:616617
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:0080625
name: severe congenital neutropenia 1
alt_id: MIM:202700
def: "A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17133096 "DO"]
synonym: "ELANE-RELATED CONDITION" BROAD []
synonym: "SCN1" EXACT []
synonym: "severe congenital neutropenia, autosomal dominant 1" EXACT []
xref: MESH:C565969
is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia

[Term]
id: DOID:0080626
name: corticosterone methyloxidase deficiency 1
alt_id: MIM:203400
def: "An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. (DO)" [https://ghr.nlm.nih.gov/condition/corticosterone-methyloxidase-deficiency "DO"]
synonym: "18-alpha hydroxylase deficiency" EXACT []
synonym: "18-hydroxylase deficiency" EXACT []
synonym: "18-oxidase deficiency" EXACT []
synonym: "Aldosterone deficiency 1" EXACT []
synonym: "Aldosterone deficiency due to defect in 18-hydroxylase" EXACT []
synonym: "ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE" EXACT []
synonym: "ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE" EXACT []
synonym: "ALDOSTERONE DEFICIENCY I" EXACT []
synonym: "Aldosterone Deficiency Type I" EXACT []
synonym: "aldosterone synthase deficiency" BROAD []
synonym: "CMO I Deficiency" EXACT []
synonym: "CORTICOSTERONE 18-MONOOXYGENASE DEFICIENCY" EXACT []
synonym: "Corticosterone methyloxidase type 1 deficiency" EXACT []
synonym: "Corticosterone Methyloxidase Type I Deficiency" EXACT []
synonym: "CYP11B2-RELATED DISORDER" BROAD []
synonym: "EARLY-ONSET FAMILIAL HYPOALDOSTERONISM" BROAD []
synonym: "FAMILIAL HYPOALDOSTERONISM" BROAD []
synonym: "FHHA1A" EXACT []
synonym: "FHHA1B" EXACT []
synonym: "HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1" EXACT []
synonym: "Hyperreninemic Hypoaldosteronism, Familial, Type I" EXACT []
synonym: "steroid 18-hydroxylase deficiency" EXACT []
synonym: "steroid 18-oxidase deficiency" EXACT []
xref: MESH:C537806
xref: ORDO:427
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9005658 ! Hypoaldosteronism

[Term]
id: DOID:0080627
name: alopecia-mental retardation syndrome
def: "A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17451405 "DO"]
xref: GARD:612
xref: MIM:PS203650
xref: ORDO:2850
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:987 ! alopecia

[Term]
id: DOID:0080628
name: alopecia-mental retardation syndrome 1
alt_id: MIM:203650
def: "An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28054173 "DO"]
synonym: "alopecia-intellectual disability syndrome 1" EXACT []
synonym: "AMR Syndrome" EXACT []
synonym: "APMR1" EXACT []
xref: MESH:C565965
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080627 ! alopecia-mental retardation syndrome

[Term]
id: DOID:0080629
name: alopecia-mental retardation syndrome 2
alt_id: MIM:610422
def: "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16922726 "DO"]
synonym: "alopecia-intellectual disability syndrome 2" EXACT []
synonym: "APMR2" EXACT []
xref: MESH:C563668
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080627 ! alopecia-mental retardation syndrome
created_by: mtutaj
creation_date: 2019-05-08T11:54:31Z

[Term]
id: DOID:0080630
name: B-lymphoblastic leukemia/lymphoma
alt_id: DOID:7061
alt_id: MIM:176310
def: "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. (DO)" [https://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia "DO"]
synonym: "acute pre-B-cell leukemia" EXACT []
synonym: "B-ALL" EXACT []
synonym: "B-cell leukemia" EXACT []
synonym: "B-cell leukemias" EXACT []
synonym: "B-cell lymphocytic leukemia" EXACT []
synonym: "B-cell lymphocytic leukemias" EXACT []
synonym: "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA, NOT OTHERWISE SPECIFIED" EXACT []
synonym: "B lymphocytic leukemia" EXACT []
synonym: "B-lymphocytic leukemias" EXACT []
synonym: "Pre B ALL" EXACT []
synonym: "pre-B-cell acute lymphoblastic leukemia" EXACT []
synonym: "pre-B-cell leukemia" EXACT []
synonym: "pre-B-cell leukemias" EXACT []
synonym: "precursor B cell lymphoblastic leukemia" EXACT []
synonym: "precursor B cell lymphoblastic lymphoma" EXACT []
synonym: "precursor B lymphoblastic lymphoma/leukemia" EXACT []
xref: EFO:0000094
xref: ICDO:9836/3
xref: MESH:D015448
xref: MESH:D015452
xref: NCI:C8936
is_a: DOID:0080638 ! B-cell acute lymphoblastic leukemia
is_a: DOID:707 ! B-cell lymphoma

[Term]
id: DOID:0080631
name: Elsahy-Waters syndrome
alt_id: MIM:211380
def: "A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20949527 "DO"]
synonym: "Brachioskeletogenital Syndrome" EXACT []
synonym: "branchioskeletogenital syndrome" EXACT []
synonym: "BSG syndrome" EXACT []
synonym: "ESWS" EXACT []
synonym: "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" EXACT []
xref: GARD:955
xref: MESH:C537084
xref: ORDO:1299
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0080632
name: Fazio-Londe disease
def: "A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK299312/ "DO"]
synonym: "childhood progressive bulbar palsy" EXACT []
synonym: "Fazio Londe syndrome" EXACT []
synonym: "progressive bulbar palsy of childhood" EXACT []
synonym: "riboflavin transporter deficiency neuronopathy" EXACT []
xref: MIM:211500
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:681 ! progressive bulbar palsy
created_by: slaulede
creation_date: 2019-01-11T18:12:54Z

[Term]
id: DOID:0080633
name: developmental cardiac valvular defect
alt_id: MIM:212093
def: "A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29581714 "DO"]
synonym: "cardiac valvular dysplasia 1" EXACT []
synonym: "CVDP1" EXACT []
xref: MESH:C565882
is_a: DOID:9007172 ! Cardiac Valvular Dysplasia

[Term]
id: DOID:0080634
name: nanophthalmos
def: "A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. (DO)" [https://eyewiki.aao.org/Nanophthalmos "DO"]
synonym: "nanophthalmia" EXACT []
xref: MIM:PS600165
xref: ORDO:35612
is_a: DOID:10629 ! microphthalmia

[Term]
id: DOID:0080635
name: optic disc anomalies with retinal and/or macular dystrophy
def: "A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24702266 "DO"]
synonym: "ODRMD" EXACT []
xref: MIM:212550
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10629 ! microphthalmia

[Term]
id: DOID:0080636
name: syndromic microphthalmia
def: "A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body. (DO)" [https://ghr.nlm.nih.gov/condition/microphthalmia "DO"]
synonym: "syndromic microphthalmia, dominant" NARROW []
xref: MIM:PS309800
is_a: DOID:10629 ! microphthalmia
created_by: mtutaj
creation_date: 2019-06-25T12:16:09Z

[Term]
id: DOID:0080637
name: isolated microphthalmia
def: "A microphthalmia that occurs by itself. (DO)" [https://ghr.nlm.nih.gov/condition/microphthalmia "DO"]
is_a: DOID:10629 ! microphthalmia

[Term]
id: DOID:0080638
name: B-cell acute lymphoblastic leukemia
def: "An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/b-cell-acute-lymphoblastic-leukemia "DO"]
synonym: "B acute lymphoblastic leukemia" EXACT []
synonym: "B-cell acute lymphoblastic leukemia, susceptibility to" RELATED []
synonym: "B-cell acute lymphocytic leukemia" EXACT []
synonym: "precursor B-cell acute lymphoblastic leukemia" NARROW []
xref: EFO:0000093
xref: EFO:0000094
xref: MONDO:0020511
xref: NCI:C8644
is_a: DOID:0060058 ! lymphoma
is_a: DOID:9952 ! acute lymphoblastic leukemia

[Term]
id: DOID:0080639
name: bone sarcoma
def: "A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805807 "DO"]
xref: NCI:C9312
is_a: DOID:1115 ! sarcoma
is_a: DOID:184 ! bone cancer

[Term]
id: DOID:0080640
name: gallbladder benign neoplasm
def: "A biliary tract benign neoplasm that is located_in the gallbladder. (DO)" [https://link.springer.com/chapter/10.1007/978-3-319-12985-3_15 "DO"]
xref: NCI:C4440
is_a: DOID:0050625 ! biliary tract benign neoplasm
is_a: DOID:9000011 ! Gallbladder Neoplasms
created_by: slaulede
creation_date: 2018-09-11T14:17:06Z

[Term]
id: DOID:0080641
name: tongue carcinoma
def: "A tongue cancer that derives_from epithelial cells that cover the surface of the tongue. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C4824&key=1996231099&b=1&n=null "DO"]
is_a: DOID:305 ! carcinoma
is_a: DOID:8649 ! tongue cancer

[Term]
id: DOID:0080642
name: Middle East respiratory syndrome
def: "A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in MERS-CoV. (DO)" [https://en.wikipedia.org/wiki/Middle_East_respiratory_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/23891402/ "DO", https://pubmed.ncbi.nlm.nih.gov/29495250 "DO", https://www.cdc.gov/coronavirus/mers/index.html "DO", https://www.who.int/news-room/q-a-detail/middle-east-respiratory-syndrome-coronavirus-(mers-cov) "DO"]
synonym: "MERS" EXACT []
synonym: "MERS (Middle East respiratory syndrome)" EXACT []
is_a: DOID:0080599 ! Coronavirus infectious disease

[Term]
id: DOID:0080643
name: B-lymphoblastic leukemia/lymphoma with BCR-ABL1
def: "A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80331 "DO"]
synonym: "ABL1-RELATED DISORDER" BROAD []
synonym: "B-ALL with BCR-ABL1" EXACT []
synonym: "BCR-ABL1" RELATED []
synonym: "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(9;22)(Q34.1;Q11.2)" EXACT []
synonym: "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1" EXACT []
xref: ICDO:9812/3
xref: NCI:C80331
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma

[Term]
id: DOID:0080644
name: B-lymphoblastic leukemia/lymphoma MLL rearranged
def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80342 "DO"]
synonym: "B-ALL KMT2A rearranged" EXACT []
synonym: "B-lymphoblastic leukemia/lymphoma KMT2A rearranged" EXACT []
synonym: "B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged" EXACT []
synonym: "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(V;11Q23.3)" EXACT []
synonym: "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged" EXACT []
synonym: "KMT2A rearranged" RELATED []
synonym: "MIXED PHENOTYPE ACUTE LEUKEMIA WITH T(V;11Q23.3)" EXACT []
synonym: "precursor B lymphoblastic lymphoma/leukemia with T(V;11Q23.3)" EXACT []
xref: ICDO:9813/3
xref: NCI:C80342
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma

[Term]
id: DOID:0080645
name: B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1
def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80343 "DO"]
synonym: "B-ALL with ETV6-RUNX1" EXACT []
synonym: "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(12;21)(P13.2;Q22.1)" EXACT []
synonym: "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1" EXACT []
synonym: "B-lymphoblastic leukemia/lymphoma with T(12;21)(P13;Q22)" EXACT []
synonym: "ETV6-RUNX1" RELATED []
synonym: "precursor B lymphoblastic lymphoma/leukemia with T(12;21)(P13;Q22)" EXACT []
synonym: "TEL-AML1 (ETV6-RUNX1)" RELATED []
xref: ICDO:9814/3
xref: NCI:C80343
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma
created_by: mtutaj
creation_date: 2019-06-25T12:14:21Z

[Term]
id: DOID:0080646
name: B-lymphoblastic leukemia/lymphoma with hyperdiploidy
def: "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80335 "DO"]
synonym: "B-ALL with hyperdiploidy" EXACT []
synonym: "precursor B lymphoblastic lymphoma/leukemia with hyperdiploidy" EXACT []
xref: ICDO:9815/3
xref: NCI:C80335
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma

[Term]
id: DOID:0080647
name: B-lymphoblastic leukemia/lymphoma with hypodiploidy
def: "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80338 "DO"]
synonym: "B-ALL with hypodiploidy" EXACT []
xref: ICDO:9816/3
xref: NCI:C80338
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma

[Term]
id: DOID:0080648
name: B-lymphoblastic leukemia/lymphoma with IL3-IGH
def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80346 "DO"]
synonym: "B-ALL with IL3-IGH" EXACT []
synonym: "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH" EXACT []
xref: ICDO:9817/3
xref: NCI:C80346
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma

[Term]
id: DOID:0080649
name: B-lymphoblastic leukemia/lymphoma with TCF3-PBX1
def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80347 "DO"]
synonym: "B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT []
synonym: "B-ALL with TCF3-PBX1" EXACT []
synonym: "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1" EXACT []
xref: ICDO:9818/3
xref: NCI:C80347
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma

[Term]
id: DOID:0080650
name: B-lymphoblastic leukemia/lymphoma, BCR-ABL1-like
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma

[Term]
id: DOID:0080651
name: B-lymphoblastic leukemia/lymphoma with iAMP21
def: "A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C130039 "DO"]
synonym: "B-ALL with iAMP21" EXACT []
synonym: "B-lymphoblastic leukemia/lymphoma with intrachromosomal amplification of chromosome 21" EXACT []
synonym: "Intrachromosomal amplification of chromosome 21 (iAMP21)" EXACT []
synonym: "precursor B lymphoblastic lymphoma/leukemia with intrachromosomal amplification of chromosome 21" EXACT []
xref: NCI:C130039
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma

[Term]
id: DOID:0080652
name: calcium oxalate nephrolithiasis
def: "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16570061 "DO"]
synonym: "calcium oxalate urolithiasis" EXACT []
synonym: "CAON" EXACT []
xref: EFO:0009065
xref: MESH:C563477
xref: MIM:PS167030
is_a: DOID:585 ! nephrolithiasis

[Term]
id: DOID:0080653
name: urolithiasis
alt_id: DOID:9001149
alt_id: OMIA:001033
def: "A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126068/ "DO"]
synonym: "urinary lithiasis" EXACT []
xref: MESH:D052878
xref: NCI:C114688
is_a: DOID:18 ! urinary system disease
created_by: mtutaj
creation_date: 2019-03-21T14:26:54Z

[Term]
id: DOID:0080654
name: uric acid urolithiasis
def: "An urolithiasis in which the composition of the stones is predominantly urate. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC290947/pdf/jcinvest00312-0142.pdf "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512151/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/14036165 "DO"]
xref: MIM:191700
is_a: DOID:0080653 ! urolithiasis

[Term]
id: DOID:0080655
name: hypophosphatemic nephrolithiasis/osteoporosis
def: "A kidney disease that is characterized by formation of renal calcium\nstones or bone demineralization. (DO)" [https://www.nejm.org/doi/full/10.1056/NEJMoa020028 "DO"]
xref: MIM:PS612286
is_a: DOID:0050336 ! hypophosphatemia
is_a: DOID:0080652 ! calcium oxalate nephrolithiasis
is_a: DOID:11476 ! osteoporosis
is_a: DOID:557 ! kidney disease
created_by: mtutaj
creation_date: 2019-12-16T09:54:24Z

[Term]
id: DOID:0080656
name: 45,X/46,XY mixed gonadal dysgenesis
def: "A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. (DO)" [https://en.wikipedia.org/wiki/45\,X/46\,XY_mosaicism "DO"]
xref: ORDO:1772
is_a: DOID:14449 ! mixed gonadal dysgenesis
created_by: rgd
creation_date: 2017-02-14T00:00:00Z

[Term]
id: DOID:0080661
name: nonsyndromic aplasia cutis congenita
def: "A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. (DO)" [https://ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita "DO", https://www.ncbi.nlm.nih.gov/pubmed/9415483 "DO"]
xref: MIM:107600
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:0080662
name: atrial standstill 1
alt_id: MIM:108770
def: "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16176547 "DO"]
synonym: "Atrial Cardiomyopathy with Heart Block" EXACT []
synonym: "Atrial Standstill" EXACT []
synonym: "Atrial Standstill 1, Digenic" EXACT []
synonym: "ATRST1" EXACT []
synonym: "familial cardiomyopathy with conduction disturbance" EXACT []
xref: MESH:C563984
xref: ORDO:1344
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10273 ! heart conduction disease
is_a: DOID:9002195 ! Atrial Dilation and Standstill
is_a: DOID:9003163 ! Heart Block
created_by: rgd
creation_date: 2017-12-07T00:00:00Z

[Term]
id: DOID:0080663
name: atrial standstill 2
def: "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16176547 "DO"]
synonym: "ATRST2" EXACT []
synonym: "NPPA-RELATED CONDITION" BROAD []
xref: MIM:615745
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10273 ! heart conduction disease
is_a: DOID:9002195 ! Atrial Dilation and Standstill

[Term]
id: DOID:0080664
name: diaphyseal medullary stenosis with malignant fibrous histiocytoma
alt_id: MESH:C536104
alt_id: MIM:112250
def: "An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8781110 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22464254 "DO"]
synonym: "BDMF" EXACT []
synonym: "bone dysplasia-medullary fibrosarcoma syndrome" EXACT []
synonym: "bone dysplasia with malignant fibrous histiocytoma" EXACT []
synonym: "bone dysplasia with medullary fibrosarcoma" EXACT []
synonym: "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" EXACT []
synonym: "DMSMFH" EXACT []
synonym: "Hardcastle syndrome" EXACT []
synonym: "limb-girdle myopathy with bone fragility" EXACT []
xref: GARD:10072
xref: MESH:C536169
xref: NCI:C122660
xref: ORDO:85182
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11724 ! limb-girdle muscular dystrophy
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:4415 ! fibrous histiocytoma
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:0080665
name: warfarin resistance
alt_id: MIM:122700
def: "An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin. (DO)" [https://ghr.nlm.nih.gov/condition/warfarin-resistance "DO"]
synonym: "Coumarin Resistance" EXACT []
synonym: "poor metabolism of coumarin" EXACT []
xref: GARD:12721
xref: MESH:C563039
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0080666
name: warfarin sensitivity
def: "An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin. (DO)" [https://ghr.nlm.nih.gov/condition/warfarin-sensitivity#inheritance "DO"]
synonym: "coumarin sensitivity" EXACT []
xref: MESH:C567080
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:655 ! inherited metabolic disorder
created_by: mtutaj
creation_date: 2019-03-21T11:14:20Z

[Term]
id: DOID:0080667
name: spinal muscular atrophy type 0
def: "A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=10700538 "DO"]
synonym: "very severe spinal muscular atrophy" EXACT []
is_a: DOID:0060160 ! childhood spinal muscular atrophy

[Term]
id: DOID:0080669
name: posterior polymorphous corneal dystrophy 4
def: "A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29499165/ "DO"]
synonym: "PPCD4" EXACT []
xref: MIM:618031
xref: MONDO:0054832
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy
created_by: slaulede
creation_date: 2018-07-10T00:00:00Z

[Term]
id: DOID:0080670
name: Meesmann corneal dystrophy 1
def: "A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22174841/ "DO"]
synonym: "MECD1" EXACT []
xref: MIM:122100
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060451 ! Meesmann corneal dystrophy
created_by: slaulede
creation_date: 2019-07-01T10:42:57Z

[Term]
id: DOID:0080671
name: Meesmann corneal dystrophy 2
def: "A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18806880/ "DO"]
synonym: "MECD2" EXACT []
xref: MIM:618767
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060451 ! Meesmann corneal dystrophy

[Term]
id: DOID:0080672
name: fibrochondrogenesis 1
def: "A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21035103/ "DO"]
synonym: "FBCG1" EXACT []
xref: MIM:228520
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060465 ! fibrochondrogenesis
created_by: slaulede
creation_date: 2019-08-16T13:47:28Z

[Term]
id: DOID:0080673
name: fibrochondrogenesis 2
def: "A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22246659/ "DO"]
synonym: "FBCG2" EXACT []
xref: MIM:614524
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060465 ! fibrochondrogenesis

[Term]
id: DOID:0080674
name: luminal breast carcinoma B
def: "A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/ "DO"]
synonym: "breast tumor luminal" BROAD []
xref: NCI:C53555
is_a: DOID:3459 ! breast carcinoma

[Term]
id: DOID:0080675
name: Stickler syndrome 2
alt_id: MIM:604841
def: "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15286167/ "DO"]
synonym: "Stickler syndrome, beaded vitreous type" EXACT []
synonym: "Stickler syndrome, type 2" EXACT []
synonym: "Stickler Syndrome, Type II" EXACT []
synonym: "Stickler syndrome, vitreous type 2" EXACT []
synonym: "STL2" EXACT []
xref: MESH:C537493
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080046 ! Stickler syndrome
is_a: DOID:9726 ! vitreous detachment

[Term]
id: DOID:0080676
name: Stickler syndrome 1
alt_id: MIM:108300
alt_id: OMIA:001522
def: "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21671392/ "DO"]
synonym: "AOM" EXACT []
synonym: "hereditary arthro-ophthalmo-dystrophy" EXACT []
synonym: "hereditary arthro-ophthalmopathy" EXACT []
synonym: "hereditary progressive arthroophthalmopathy" EXACT []
synonym: "Oculoskeletal dysplasia 1" EXACT []
synonym: "Stickler dysplasia" EXACT []
synonym: "Stickler syndrome, membranous vitreous type" EXACT []
synonym: "Stickler syndrome, type 1" EXACT []
synonym: "Stickler syndrome, type I" EXACT []
synonym: "Stickler syndrome, vitreous type 1" EXACT []
synonym: "STL1" EXACT []
xref: MESH:C537492
xref: NCI:C168733
xref: ORDO:90653
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080046 ! Stickler syndrome
created_by: mtutaj
creation_date: 2019-03-21T15:15:35Z

[Term]
id: DOID:0080677
name: otospondylomegaepiphyseal dysplasia, autosomal dominant
alt_id: MIM:184840
def: "An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15372529/ "DO"]
synonym: "Heterozygous Osmed" EXACT []
synonym: "Heterozygous Otospondylomegaepiphyseal Dysplasia" EXACT []
synonym: "OSMEDA" EXACT []
synonym: "Pierre Robin Syndrome with Fetal Chondrodysplasia" EXACT []
synonym: "Stickler syndrome nonocular type" EXACT []
synonym: "Stickler syndrome, type 3" EXACT []
synonym: "Stickler syndrome, type III" EXACT []
synonym: "STL3" EXACT []
synonym: "Weissenbacher-Zweymuller syndrome, autosomal recessive" EXACT []
xref: MESH:C535776
xref: MESH:C537494
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080046 ! Stickler syndrome
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome

[Term]
id: DOID:0080678
name: mucolipidosis III gamma
alt_id: MIM:252605
def: "A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10712439/ "DO"]
synonym: "ML IIIC" EXACT []
synonym: "ML III gamma" EXACT []
synonym: "Mucolipidosis IIIC" EXACT []
synonym: "Mucolipidosis III, Complementation Group C" EXACT []
synonym: "Mucolipidosis III, Iranian Variant Form" EXACT []
synonym: "Mucolipidosis III, Variant Form" EXACT []
synonym: "mucolipidosis type III gamma" EXACT []
xref: MESH:C565367
xref: NCI:C129978
xref: ORDO:423470
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080488 ! mucolipidosis
is_a: DOID:3343 ! glycoproteinosis
created_by: rgd
creation_date: 2017-02-14T00:00:00Z

[Term]
id: DOID:0080679
name: neuronal intestinal dysplasia type A
def: "An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8882403/ "DO"]
synonym: "ARGYROPHIL MYENTERIC PLEXUS, DEFICIENCY OF" RELATED []
synonym: "INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DISEASE" RELATED []
synonym: "NID A" EXACT []
synonym: "PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, NEURONAL TYPE" RELATED []
synonym: "VISCERAL NEUROPATHY, FAMILIAL, 1, AUTOSOMAL RECESSIVE" RELATED []
synonym: "VSCN1" RELATED []
xref: MIM:243180
is_a: DOID:0080072 ! intestinal pseudo-obstruction
is_a: DOID:9000473 ! Familial Visceral Neuropathy

[Term]
id: DOID:0080680
name: neuronal intestinal dysplasia type B
def: "An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8882403/ "DO"]
synonym: "NID B" EXACT []
xref: MIM:601223
is_a: DOID:0080072 ! intestinal pseudo-obstruction

[Term]
id: DOID:0080681
name: X-linked chronic idiopathic intestinal pseudo-obstruction
alt_id: MIM:300048
def: "An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8644737/ "DO"]
synonym: "CIIP" EXACT []
synonym: "CIIPX" EXACT []
synonym: "CIIP, X-LINKED" EXACT []
synonym: "Congenital Idiopathic Intestinal Pseudoobstruction" EXACT []
synonym: "CONGENITAL SHORT BOWEL SYNDROME, X-LINKED" RELATED []
synonym: "Intestinal pseudoobstruction chronic idiopathic" EXACT []
synonym: "Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, with Central Nervous System Involvement" EXACT []
synonym: "IPOX" EXACT []
synonym: "neuronal intestinal pseudoobstruction, chronic idiopathic, X-linked" EXACT []
xref: GARD:3017
xref: MESH:C535532
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0080072 ! intestinal pseudo-obstruction
created_by: mtutaj
creation_date: 2019-12-16T09:58:41Z

[Term]
id: DOID:0080682
name: autosomal dominant familial visceral neuropathy
alt_id: MIM:609629
def: "An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16088914/ "DO"]
synonym: "familial enteric neuropathy" EXACT []
synonym: "familial visceral neuropathy3, autosomal dominant" EXACT []
synonym: "idiopathic intestinal pseudoobstruction" EXACT []
synonym: "neuropathic chronic intestinal pseudoobstruction" EXACT []
synonym: "VSCN3" EXACT []
xref: MESH:C566502
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9000473 ! Familial Visceral Neuropathy
is_a: DOID:9002025 ! Familial Visceral Myopathy

[Term]
id: DOID:0080683
name: nonsyndromic congenital nail disorder
def: "A nail disease that is characterized by underdevelopment of nails. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"]
xref: MIM:PS161050
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:0080684
name: diffuse midline glioma, H3 K27M-mutant
def: "A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. (DO)" [https://braintumor.org/wp-content/assets/WHO-Central-Nervous-System-Tumor-Classification.pdf "DO", https://pubmed.ncbi.nlm.nih.gov/31290035/ "DO", https://www.frontiersin.org/articles/10.3389/fonc.2019.00031/full "DO"]
xref: EFO:1000026
xref: NCI:C129309
xref: NCI:C94764
is_a: DOID:0080879 ! histone mutated tumor
is_a: DOID:4202 ! brain stem glioma
is_a: DOID:9004158 ! diffuse intrinsic pontine glioma
created_by: slaulede
creation_date: 2020-02-06T00:00:00Z

[Term]
id: DOID:0080685
name: aortic dissection
def: "An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK441963/ "DO"]
synonym: "acute aortic dissection" EXACT []
synonym: "acute aortic dissections" EXACT []
synonym: "aortic dissections" EXACT []
synonym: "ASCENDING AORTIC DISSECTION" NARROW []
synonym: "DESCENDING AORTIC DISSECTION" NARROW []
xref: NCI:C50461
is_a: DOID:520 ! aortic disease

[Term]
id: DOID:0080686
name: tubular aggregate myopathy 2
def: "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/ "DO"]
synonym: "ORAI1-RELATED CONDITION" BROAD []
synonym: "TAM2" EXACT []
xref: MIM:615883
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9002092 ! Tubular Aggregate Myopathies
created_by: mtutaj
creation_date: 2019-02-08T14:29:12Z

[Term]
id: DOID:0080687
name: reducing body myopathy 1B
alt_id: MIM:300718
def: "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18952429/ "DO"]
synonym: "RBMX1B" EXACT []
synonym: "REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET" EXACT []
synonym: "reducing body myopathy, X-linked, childhood-onset" EXACT []
xref: MESH:C567468
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9002604 ! Reducing Body Myopathies

[Term]
id: DOID:0080688
name: mosaic variegated aneuploidy syndrome
def: "A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes. (DO)" [https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome "DO"]
synonym: "mosaic variegated aneuploidy syndromes" EXACT []
xref: GARD:3007
xref: MESH:C536987
xref: MIM:PS257300
xref: ORDO:1052
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
created_by: mtutaj
creation_date: 2019-09-27T09:06:13Z

[Term]
id: DOID:0080689
name: mosaic variegated aneuploidy syndrome 3
def: "A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28553959/ "DO"]
synonym: "MVA3" EXACT []
xref: MIM:617598
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome

[Term]
id: DOID:0080690
name: RASopathy
alt_id: DOID:9003333
def: "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. (DO)" [https://en.wikipedia.org/wiki/RASopathy "DO", https://www.nature.com/articles/jhg2015114 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115674/ "DO"]
synonym: "RAS/mitogen-activated protein kinase syndrome" EXACT []
synonym: "RASopathies" EXACT []
xref: EFO:1001502
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0080691
name: Noonan syndrome-like disorder with loose anagen hair
def: "A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. (DO)" [https://rarediseases.info.nih.gov/diseases/10719/disease "DO"]
synonym: "Noonan-like syndrome with loose anagen hair" EXACT []
xref: GARD:10719
xref: MESH:C564342
xref: MIM:PS607721
xref: ORDO:2701
is_a: DOID:0080690 ! RASopathy
is_a: DOID:0111702 ! loose anagen hair syndrome
is_a: DOID:9003091 ! Noonan Like Syndrome

[Term]
id: DOID:0080692
name: Noonan syndrome-like disorder with loose anagen hair 1
def: "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25137548/ "DO", https://pubmed.ncbi.nlm.nih.gov/30329053/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4213265/ "DO"]
synonym: "Mazzanti syndrome" EXACT []
synonym: "NSLH" EXACT []
synonym: "NSLH1" EXACT []
synonym: "SHOC2-RELATED CONDITION" EXACT []
synonym: "Tosti syndrome" EXACT []
xref: MIM:607721
is_a: DOID:0080691 ! Noonan syndrome-like disorder with loose anagen hair
created_by: mtutaj
creation_date: 2019-02-12T10:18:13Z

[Term]
id: DOID:0080693
name: Noonan syndrome-like disorder with loose anagen hair 2
def: "A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27264673/ "DO", https://pubmed.ncbi.nlm.nih.gov/28211982/ "DO"]
synonym: "NSLH2" EXACT []
synonym: "PPP1CB-RELATED CONDITION" EXACT []
xref: MIM:617506
is_a: DOID:0080691 ! Noonan syndrome-like disorder with loose anagen hair

[Term]
id: DOID:0080694
name: Galloway-Mowat syndrome
alt_id: DOID:0060364
alt_id: MESH:C537311
def: "A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. (DO)" [https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/20083416/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26123727 "DO"]
synonym: "CAMOS" EXACT []
synonym: "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" EXACT []
synonym: "Galloway syndrome" EXACT []
synonym: "GAMOS" EXACT []
synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT []
synonym: "microcephaly, hiatus hernia, and nephrotic syndrome" EXACT []
synonym: "nephrosis-microcephaly syndrome" EXACT []
synonym: "nephrosis-neuronal dysmigration syndrome" EXACT []
xref: GARD:65
xref: MESH:C537548
xref: MIM:PS251300
xref: NCI:C132195
xref: ORDO:2065
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10907 ! microcephaly
is_a: DOID:12642 ! hiatus hernia
is_a: DOID:225 ! syndrome
is_a: DOID:2527 ! nephrosis
is_a: DOID:9277 ! primary cerebellar degeneration
created_by: gthayman
creation_date: 2019-03-20T00:00:00Z

[Term]
id: DOID:0080695
name: Burn-McKeown syndrome
alt_id: MIM:608572
def: "A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism,\nhearing loss, heart abnormalities, and short stature. (DO)" [https://ghr.nlm.nih.gov/condition/burn-mckeown-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK373577/ "DO"]
synonym: "bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance" EXACT []
synonym: "BMKS" EXACT []
synonym: "choanal atresia - deafness - cardiac defects - dysmorphism syndrome" EXACT []
xref: GARD:10041
xref: MESH:C537411
xref: ORDO:1200
is_a: DOID:225 ! syndrome
is_a: DOID:9001156 ! Oculootofacial Dysplasia
is_a: DOID:9001487 ! Facies
is_a: DOID:9008681 ! Deafness
is_a: DOID:9574 ! choanal atresia

[Term]
id: DOID:0080696
name: Winchester syndrome
def: "A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet. (DO)" [https://ghr.nlm.nih.gov/condition/winchester-syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/29741626/ "DO"]
synonym: "Winchester disease" EXACT []
synonym: "Winchester-Grossman disease" EXACT []
synonym: "Winchester-Grossman syndrome" EXACT []
synonym: "WNCHRS" EXACT []
xref: GARD:7894
xref: MESH:C536709
xref: MIM:277950
xref: MONDO:0010201
xref: NCI:C170731
is_a: DOID:11476 ! osteoporosis
is_a: DOID:225 ! syndrome
is_a: DOID:9006081 ! Osteolysis
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008606 ! Corneal Opacity

[Term]
id: DOID:0080697
name: Opitz GBBB syndrome
alt_id: DOID:0050780
alt_id: MIM:300000
def: "A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. (DO)" [http://www.genome.jp/dbget-bin/www_bget?ds\:H00583 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1327/ "DO", http://www.ncbi.nlm.nih.gov/books/NBK1523/ "DO", https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome "DO", https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/15558842/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1327/ "DO"]
synonym: "BBBG1" EXACT []
synonym: "GBBB1" EXACT []
synonym: "GBBB syndrome" EXACT []
synonym: "hypertelorism-hypospadias sydrome" EXACT []
synonym: "hypertelorism with esophageal abnormalities and hypospadias" EXACT []
synonym: "hypertelorism with esophageal abnormality and hypospadias" EXACT []
synonym: "OGS1" EXACT []
synonym: "Opitz BBB-G syndrome" EXACT []
synonym: "Opitz BBBG syndrome" EXACT []
synonym: "Opitz BBBG syndrome, type I" EXACT []
synonym: "Opitz G/BBB syndrome" EXACT []
synonym: "Opitz GBBB syndrome type I" EXACT []
synonym: "Opitz GBBB syndrome, X-linked" EXACT []
synonym: "Opitz-G syndrome, type I" EXACT []
synonym: "Opitz Syndrome" EXACT []
synonym: "OS" EXACT []
synonym: "OSX" EXACT []
synonym: "telecanthus-hypospadias syndrome" EXACT []
synonym: "X-linked Opitz syndrome" EXACT []
synonym: "X-linked Opitz syndrome (XLOS)" EXACT []
xref: GARD:193
xref: MESH:C567932
xref: NCI:C125487
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:10892 ! hypospadias
is_a: DOID:674 ! cleft palate
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9003591 ! Telecanthus
created_by: mtutaj
creation_date: 2019-03-26T00:00:00Z

[Term]
id: DOID:0080698
name: Teebi hypertelorism syndrome 1
alt_id: DOID:9003103
def: "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25412741/ "DO", https://pubmed.ncbi.nlm.nih.gov/30472488/ "DO", https://pubmed.ncbi.nlm.nih.gov/31953237/ "DO"]
synonym: "autosomal dominant Opitz syndrome (ADOS)" EXACT []
synonym: "BBB syndrome" EXACT []
synonym: "chromosome 22q11.2 deletion syndrome, Opitz phenotype" EXACT []
synonym: "GBBB2" EXACT []
synonym: "G SYNDROME" EXACT []
synonym: "Hypospadias-Dysphagia Syndrome" EXACT []
synonym: "OGS2" EXACT []
synonym: "Opitz BBB Syndrome" EXACT []
synonym: "Opitz-Frias syndrome" EXACT []
synonym: "Opitz GBBB syndrome, autosomal dominant" EXACT []
synonym: "Opitz GBBB syndrome type II" EXACT []
synonym: "Opitz G syndrome" EXACT []
synonym: "Opitz-G syndrome, type 2" EXACT []
synonym: "Opitz-G syndrome, type II" EXACT []
synonym: "Opitz oculogenitolaryngeal syndrome, type II" EXACT []
synonym: "SPECC1L-RELATED CONDITION" BROAD []
synonym: "SPECC1L-related hypertelorism syndrome" EXACT []
synonym: "TBHS1" EXACT []
synonym: "telecanthus with associated abnormalities" EXACT []
xref: MESH:C538387
xref: MIM:145420
xref: ORDO:1519
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081073 ! Teebi hypertelorism syndrome
created_by: mtutaj
creation_date: 2020-02-05T15:44:29Z

[Term]
id: DOID:0080699
name: glutathione synthetase deficiency
def: "An amino acid metabolic disorder characterized by the lack of glutathione production. (DO)" [https://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency "DO", https://pubmed.ncbi.nlm.nih.gov/31198081/ "DO"]
synonym: "5-oxoprolinemia" EXACT []
synonym: "5-oxoprolinuria" EXACT []
synonym: "deficiency of glutathione synthase" EXACT []
synonym: "deficiency of glutathione synthetase" EXACT []
synonym: "GSSD" EXACT []
synonym: "INHERITED GLUTATHIONE SYNTHETASE DEFICIENCY" EXACT []
synonym: "pyroglutamic acidemia" EXACT []
synonym: "pyroglutamic aciduria" EXACT []
xref: GARD:10047
xref: MESH:C536835
xref: NCI:C128193
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0080700
name: caudal regression syndrome
alt_id: MIM:600145
def: "A physical disorder that is characterized by impairment of the development of the lower half of the body. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30574238 "DO", https://www.ncbi.nlm.nih.gov/pubmed/32200015 "DO"]
synonym: "agenesis of sacrum" EXACT []
synonym: "caudal dysgenesis syndrome" EXACT []
synonym: "caudal dysplasia sequence" EXACT []
synonym: "caudal regression sequence" EXACT []
synonym: "Hypoplasia of sacrum" EXACT []
synonym: "Lumbosacral agenesis" EXACT []
synonym: "SACRAL AGENESIS" NARROW []
synonym: "Sacral Defect and Anterior Sacral Meningocele" EXACT []
synonym: "Sacral defect anterior meningocele" EXACT []
synonym: "sacral defect with anterior meningocele" EXACT []
synonym: "SDAM caudal dysgenesis syndrome" NARROW []
synonym: "sirenomelia" NARROW []
xref: MESH:C537221
is_a: DOID:0080015 ! physical disorder
is_a: DOID:1088 ! meningocele
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0080701
name: prothrombin thrombophilia
def: "A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21707594/ "DO"]
synonym: "hyperprothrombinemia" EXACT []
synonym: "Prothrombin G20210a Thrombophilia" EXACT []
xref: MESH:C566755
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2452 ! thrombophilia
created_by: mtutaj
creation_date: 2019-02-13T13:16:05Z

[Term]
id: DOID:0080702
name: medulloblastoma WNT activated
def: "A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29582169/ "DO", https://radiopaedia.org/articles/medulloblastoma-wnt-subgroup?lang=us "DO"]
xref: ICDO:9475/3
xref: NCI:C129440
is_a: DOID:0050902 ! medulloblastoma
created_by: mtutaj
creation_date: 2020-04-23T10:15:56Z

[Term]
id: DOID:0080703
name: medulloblastoma SHH activated
def: "A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. (DO)" [https://onlinelibrary.wiley.com/doi/full/10.1002/acn3.762 "DO", https://pubmed.ncbi.nlm.nih.gov/29582169/ "DO", https://radiopaedia.org/articles/medulloblastoma-shh-subgroup?lang=us "DO"]
xref: NCI:C129441
is_a: DOID:0050902 ! medulloblastoma

[Term]
id: DOID:0080704
name: medulloblastoma SHH activated and TP53 mutant
def: "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. (DO)" [https://ascopubs.org/doi/10.1200/JCO.2012.48.5052 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490254/ "DO"]
xref: ICDO:9476/3
xref: NCI:C129442
is_a: DOID:0080703 ! medulloblastoma SHH activated
created_by: rgd
creation_date: 2016-10-18T00:00:00Z

[Term]
id: DOID:0080705
name: medulloblastoma SHH activated and TP53 wild-type
def: "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743072/ "DO"]
synonym: "Medulloblastoma SHH-Activated TP53-Wildtype" EXACT []
xref: ICDO:9471/3
xref: NCI:C129443
is_a: DOID:0080703 ! medulloblastoma SHH activated

[Term]
id: DOID:0080706
name: medulloblastoma non-WNT/non-SHH
def: "A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30392813/ "DO"]
xref: ICDO:9477/3
xref: NCI:C129444
is_a: DOID:0050902 ! medulloblastoma

[Term]
id: DOID:0080707
name: medulloblastoma non-WNT/non-SHH group 3
def: "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29427151/ "DO", https://pubmed.ncbi.nlm.nih.gov/30876441/ "DO"]
xref: NCI:C129445
is_a: DOID:0080706 ! medulloblastoma non-WNT/non-SHH

[Term]
id: DOID:0080708
name: medulloblastoma non-WNT/non-SHH group 4
def: "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29427151/ "DO"]
xref: NCI:C129446
is_a: DOID:0080706 ! medulloblastoma non-WNT/non-SHH

[Term]
id: DOID:0080709
name: NK cell deficiency
def: "A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood. (DO)" [https://www.frontiersin.org/articles/10.3389/fimmu.2019.01703/full "DO"]
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:0080710
name: T cell and NK cell immunodeficiency
def: "A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31257346/ "DO"]
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:0080711
name: multisystem inflammatory syndrome in children
def: "A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. (DO)" [https://www.cdc.gov/coronavirus/2019-ncov/daily-life-coping/children/mis-c.html "DO", https://www.cdc.gov/mis-c/hcp/ "DO", https://www.cdc.gov/mis-c/index.html "DO", https://www.cdc.gov/mmwr/volumes/69/wr/mm6932e2.htm?s_cid=mm6932e2_x "DO"]
synonym: "MIS-C" EXACT []
synonym: "multisystem inflammatory disorder in children and adolescents" EXACT []
synonym: "paediatric inflammatory multisystemic syndrome" EXACT []
is_a: DOID:0080599 ! Coronavirus infectious disease
created_by: slaulede
creation_date: 2020-02-06T13:19:38Z

[Term]
id: DOID:0080712
name: gene duplication disease
def: "A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. (DO)" [https://www.genome.gov/genetics-glossary/Duplication "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656685/ "DO"]
synonym: "gene duplication syndrome" EXACT []
is_a: DOID:0050177 ! monogenic disease
created_by: gthayman
creation_date: 2019-06-17T13:10:35Z

[Term]
id: DOID:0080714
name: hereditary alpha tryptasemia syndrome
def: "A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27749843/ "DO", https://pubmed.ncbi.nlm.nih.gov/30007465/ "DO", https://rarediseases.info.nih.gov/diseases/13193/hereditary-alpha-tryptasemia-syndrome "DO", https://www.niaid.nih.gov/research/hereditary-alpha-tryptasemia-faq "DO"]
xref: GARD:13193
is_a: DOID:0080712 ! gene duplication disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0080715
name: developmental and epileptic encephalopathy 82
def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31422819/ "DO"]
synonym: "DEE82" EXACT []
synonym: "deficiency of mitochondrial glutamate oxaloacetate transaminase" EXACT []
synonym: "early infantile epileptic encephalopathy 82" EXACT []
synonym: "EIEE82" EXACT []
synonym: "GOT2 deficiency" EXACT []
xref: MIM:618721
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy

[Term]
id: DOID:0080716
name: infantile liver failure syndrome
def: "A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. (DO)" [https://rarediseases.info.nih.gov/diseases/13114/disease "DO"]
xref: MIM:PS615438
xref: ORDO:370088
is_a: DOID:225 ! syndrome
is_a: DOID:9004590 ! Acute Liver Failure
created_by: mtutaj
creation_date: 2020-03-27T12:02:54Z

[Term]
id: DOID:0080717
name: infantile liver failure syndrome 1
def: "An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22607940/ "DO"]
synonym: "acute infantile liver failure-multisystemic involvement syndrome" EXACT []
synonym: "ILFS1" EXACT []
synonym: "LARS1-RELATED CONDITION" EXACT []
xref: GARD:13114
xref: MIM:615438
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080716 ! infantile liver failure syndrome

[Term]
id: DOID:0080718
name: GNE myopathy
alt_id: MESH:C538329
alt_id: MIM:605820
def: "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. (DO)" [https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2 "DO", https://pubmed.ncbi.nlm.nih.gov/29720219/ "DO", https://pubmed.ncbi.nlm.nih.gov/30338442/ "DO", https://rarediseases.org/rare-diseases/gne-myopathy/ "DO", https://www.genome.gov/Current-NHGRI-Clinical-Studies/GNE-Myopathy "DO"]
synonym: "distal myopathy, Nonaka type" EXACT []
synonym: "DMRV" EXACT []
synonym: "IBM2" EXACT []
synonym: "inclusion body myopathy 2" EXACT []
synonym: "inclusion body myopathy 2, autosomal recessive" EXACT []
synonym: "inclusion body myopathy, autosomal recessive" EXACT []
synonym: "inclusion body myopathy, hereditary, autosomal recessive" EXACT []
synonym: "inclusion body myopathy, quadriceps sparing" EXACT []
synonym: "NM" EXACT []
synonym: "Nonaka distal myopathy" EXACT []
synonym: "Nonaka myopathy" EXACT []
synonym: "QSM" EXACT []
synonym: "rimmed vacuole myopathy" EXACT []
xref: GARD:9493
xref: MESH:C536816
xref: NCI:C176900
xref: ORDO:602
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11720 ! distal myopathy
is_a: DOID:3429 ! inclusion body myositis

[Term]
id: DOID:0080719
name: congenital myopathy 6
def: "A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24193343/ "DO"]
synonym: "CMYO6" EXACT []
synonym: "CMYP6" EXACT []
synonym: "congenital myopathy 6 with ophthalmoplegia" EXACT []
synonym: "hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome" EXACT []
synonym: "IBM3" EXACT []
synonym: "inclusion body myopathy 3" EXACT []
synonym: "inclusion body myopathy 3, autosomal dominant" EXACT []
synonym: "inclusion body myopathy, autosomal dominant" EXACT []
synonym: "inclusion body myopathy, dominant" EXACT []
synonym: "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" EXACT []
synonym: "MYPOP" EXACT []
synonym: "proximal myopathy and ophthalmoplegia" EXACT []
xref: GARD:9494
xref: MESH:C538330
xref: MESH:C565311
xref: MIM:605637
xref: MONDO:0011577
xref: ORDO:79091
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:3429 ! inclusion body myositis
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:0080720
name: autosomal dominant congenital deafness with onychodystrophy
alt_id: MIM:124480
def: "A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28396750/ "DO"]
synonym: "congenital deafness, and onychodystrophy, autosomal dominant" EXACT []
synonym: "DDOD" EXACT []
synonym: "DDOD syndrome" EXACT []
xref: GARD:4732
xref: MESH:C567274
xref: NCI:C175240
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9008681 ! Deafness
is_a: DOID:9009007 ! Tooth Abnormalities
created_by: rgd
creation_date: 2018-01-17T14:42:54Z

[Term]
id: DOID:0080721
name: calvarial doughnut lesions with bone fragility
alt_id: MIM:126550
def: "An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483641/ "DO"]
synonym: "CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA" NARROW []
synonym: "CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY WITH OR WITHOUT SPONDYLOMETAPHYSEAL DYSPLASIA" EXACT []
synonym: "CDL" EXACT []
synonym: "familial doughnut lesions of skull" EXACT []
xref: MESH:C565089
xref: ORDO:85192
is_a: DOID:2256 ! osteochondrodysplasia
created_by: mtutaj
creation_date: 2020-01-28T13:07:19Z

[Term]
id: DOID:0080722
name: Kenny-Caffey syndrome type 1
alt_id: MIM:244460
def: "A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9806825/ "DO"]
synonym: "KCS1" EXACT []
synonym: "Kenny-Caffey syndrome, autosomal recessive" EXACT []
synonym: "Kenny-Caffey syndrome, autosomal recessive form" EXACT []
synonym: "Kenny-Caffey syndrome, type I" EXACT []
xref: GARD:8367
xref: MESH:C537021
xref: ORDO:93324
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080724 ! Kenny-Caffey syndrome
created_by: slaulede
creation_date: 2019-08-06T11:01:04Z

[Term]
id: DOID:0080723
name: Kenny-Caffey syndrome type 2
alt_id: MIM:127000
def: "A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23996431/ "DO"]
synonym: "autosomal dominant Kenny-Caffey syndrome" EXACT []
synonym: "dwarfism, cortical thickening of tubular bones, and transient hypocalcemia" EXACT []
synonym: "FAM111A-RELATED CONDITION" BROAD []
synonym: "KCS2" EXACT []
synonym: "Kenny-Caffey syndrome 2" EXACT []
synonym: "Kenny syndrome" EXACT []
xref: GARD:83
xref: MESH:C537020
xref: MONDO:0007478
xref: ORDO:93325
is_a: DOID:0080724 ! Kenny-Caffey syndrome
is_a: DOID:0090109 ! autosomal dominant hypocalcemia
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0080724
name: Kenny-Caffey syndrome
def: "A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. (DO)" [https://en.wikipedia.org/wiki/Kenny-Caffey_syndrome "DO"]
synonym: "KCS" EXACT []
xref: MIM:PS127000
xref: ORDO:2333
is_a: DOID:225 ! syndrome
is_a: DOID:4257 ! Caffey disease

[Term]
id: DOID:0080725
name: BASAN syndrome
alt_id: MIM:129200
def: "An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8340514/ "DO"]
synonym: "ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITAL CONTRACTURES, AND NAIL ABNORMALITIES" EXACT []
synonym: "ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE" EXACT []
synonym: "ectodermal dysplasia, absent dermatoglyphics" EXACT []
xref: GARD:2336
xref: MESH:C537659
xref: ORDO:1658
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:0080726
name: Ehlers-Danlos syndrome classic type 2
alt_id: MIM:130010
def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22696272/ "DO"]
synonym: "COL5A2-RELATED CONDITION" EXACT []
synonym: "EDS2" EXACT []
synonym: "EDSCL2" EXACT []
synonym: "EDS II" EXACT []
synonym: "Ehlers-Danlos syndrome, mild classic type" EXACT []
synonym: "Ehlers-Danlos syndrome, MITIS type" EXACT []
synonym: "Ehlers-Danlos Syndrome Type 2" EXACT []
synonym: "Ehlers-Danlos Syndrome, Type 2 Atypical" EXACT []
synonym: "Ehlers-Danlos syndrome type II" EXACT []
xref: MESH:C536195
xref: NCI:C125697
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome

[Term]
id: DOID:0080727
name: Ehlers-Danlos syndrome arthrochalasia type 1
alt_id: MIM:130060
def: "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18409203/ "DO"]
synonym: "Arthrochalasis Multiplex Congenita" EXACT []
synonym: "EDS7A" EXACT []
synonym: "EDS VIIA" EXACT []
synonym: "EDS VII, Mutant Procollagen Type" EXACT []
synonym: "Ehlers-Danlos syndrome, arthrochalasia type" EXACT []
synonym: "Ehlers-Danlos syndrome, type 7A" EXACT []
synonym: "Ehlers-Danlos syndrome type VII, autosomal dominant" EXACT []
xref: MESH:C562625
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9005449 ! Ehlers-Danlos Syndrome Type 7

[Term]
id: DOID:0080728
name: Ehlers-Danlos syndrome arthrochalasia type 2
alt_id: DOID:9004487
alt_id: MESH:C565061
def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18409203/ "DO"]
synonym: "EDS7B" EXACT []
synonym: "EDSARTH2" EXACT []
synonym: "EDS VIIB" EXACT []
synonym: "Ehlers-Danlos syndrome type VIIB, autosomal dominant" EXACT []
xref: MIM:617821
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9005449 ! Ehlers-Danlos Syndrome Type 7
created_by: slaulede
creation_date: 2020-03-13T00:00:00Z

[Term]
id: DOID:0080729
name: brittle cornea syndrome 2
def: "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"]
synonym: "BCS2" EXACT []
xref: MIM:614170
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11343 ! scleral disease
is_a: DOID:9005468 ! Brittle Cornea Syndrome

[Term]
id: DOID:0080730
name: Ehlers-Danlos syndrome cardiac valvular type
alt_id: MIM:225320
def: "An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16816023/ "DO"]
synonym: "cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" EXACT []
synonym: "cardiac valvular form of Ehlers-Danlos syndrome" EXACT []
synonym: "EDSCV" EXACT []
synonym: "Ehlers-Danlos Syndrome, Arthrochalasis Type" EXACT []
synonym: "Ehlers-Danlos syndrome, cardiac valvular form" EXACT []
synonym: "Ehlers-Danlos syndrome, cardiac valvular form, autosomal recessive" EXACT []
xref: MESH:C536200
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome

[Term]
id: DOID:0080731
name: Ehlers-Danlos syndrome classic-like 1
alt_id: MIM:606408
def: "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"]
synonym: "EDSCLL" EXACT []
synonym: "EDS due to TNX deficiency" EXACT []
synonym: "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" EXACT []
synonym: "Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency" EXACT []
synonym: "Ehlers-Danlos syndrome, classic-like" EXACT []
synonym: "Ehlers-Danlos syndrome due to tenascin-X deficiency" EXACT []
synonym: "TNXB-RELATED CONDITION" BROAD []
synonym: "TNX deficiency" EXACT []
xref: MESH:C536193
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome

[Term]
id: DOID:0080732
name: Ehlers-Danlos syndrome classic-like 2
def: "An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"]
synonym: "EDSCLL2" EXACT []
xref: MIM:618000
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080733
name: Ehlers-Danlos syndrome dermatosparaxis type
alt_id: MIM:225410
def: "An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"]
synonym: "dermatosparaxis" EXACT []
synonym: "EDS7C" EXACT []
synonym: "EDS VIIC" EXACT []
synonym: "Ehlers-Danlos syndrome type VII, autosomal recessive" EXACT []
xref: MESH:C567527
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9005449 ! Ehlers-Danlos Syndrome Type 7
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080734
name: Ehlers-Danlos syndrome kyphoscoliotic type 1
alt_id: MESH:C536113
alt_id: MESH:C536198
def: "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe\nand that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"]
synonym: "cerebral gigantism nevo type" EXACT []
synonym: "EDS6" EXACT []
synonym: "EDS6A" EXACT []
synonym: "EDS VI" EXACT []
synonym: "EHLERS-DANLOS SYNDROME, HYDROXYLYSINE-DEFICIENT" EXACT []
synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type" EXACT []
synonym: "EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE" EXACT []
synonym: "Ehlers-Danlos syndrome, oculoscoliotic type" EXACT []
synonym: "Ehlers-Danlos Syndrome Type 6" EXACT []
synonym: "Ehlers-Danlos syndrome, type 6 A" EXACT []
synonym: "Ehlers-Danlos Syndrome, Type VI" EXACT []
synonym: "Ehlers-Danlos Syndrome, Type VIA" EXACT []
synonym: "Nevo syndrome" EXACT []
xref: MIM:225400
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome
created_by: gthayman
creation_date: 2019-06-11T16:46:42Z

[Term]
id: DOID:0080735
name: Ehlers-Danlos syndrome kyphoscoliotic type 2
def: "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"]
synonym: "EDSKMH" EXACT []
synonym: "EDSKSCL2" EXACT []
synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT []
xref: MIM:614557
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080000 ! muscular disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9004998 ! Kyphoscoliosis
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080736
name: Ehlers-Danlos syndrome musculocontractural type 1
alt_id: MIM:601776
def: "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"]
synonym: "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome" EXACT []
synonym: "adducted thumb-clubfoot syndrome" EXACT []
synonym: "adducted thumbs Dundar type" EXACT []
synonym: "ATCS" EXACT []
synonym: "distal arthrogryposis with peculiar facies and hydronephrosis" EXACT []
synonym: "Dundar syndrome" EXACT []
synonym: "EDS6B (formerly)" EXACT []
synonym: "EDSMC" EXACT []
synonym: "EDSMC1" EXACT []
synonym: "Ehlers-Danlos syndrome, type VIB (formerly)" EXACT []
xref: MESH:C000600608
xref: NCI:C168975
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome
created_by: mtutaj
creation_date: 2019-11-22T10:15:03Z

[Term]
id: DOID:0080737
name: Ehlers-Danlos syndrome musculocontractural type 2
def: "An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"]
synonym: "EDSMC2" EXACT []
xref: MIM:615539
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:11836 ! clubfoot
is_a: DOID:13359 ! Ehlers-Danlos syndrome
is_a: DOID:9004014 ! Adducted Thumbs Syndrome
created_by: slaulede
creation_date: 2018-09-14T14:19:19Z

[Term]
id: DOID:0080738
name: Ehlers-Danlos syndrome spondylodysplastic type 1
alt_id: MIM:130070
def: "An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23956117/ "DO"]
synonym: "defective biosynthesis of PDS" EXACT []
synonym: "defective biosynthesis of proteodermatan sulfate" EXACT []
synonym: "dermatan sulfate proteoglycan" EXACT []
synonym: "EDSP1" EXACT []
synonym: "EDSSLA" EXACT []
synonym: "Ehlers-Danlos Syndrome, Progeroid Type, 1" EXACT []
synonym: "EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES" EXACT []
synonym: "Galactosyltransferase 1 deficiency" EXACT []
synonym: "Galactosyltransferase I Deficiency" EXACT []
synonym: "XGPT deficiency" EXACT []
synonym: "xylosylprotein 4-beta-galactosyltransferase deficiency" EXACT []
xref: MESH:C536201
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome

[Term]
id: DOID:0080739
name: Ehlers-Danlos syndrome spondylodysplastic type 3
alt_id: DOID:9002616
alt_id: MIM:612350
def: "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18513683/ "DO"]
synonym: "SCD-EDS" EXACT []
synonym: "SCDEDS" EXACT []
synonym: "spondylocheirodysplasia, Ehlers-Danlos syndrome-like" EXACT []
xref: MESH:C567340
is_a: DOID:13359 ! Ehlers-Danlos syndrome
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0080740
name: Libman-Sacks endocarditis
def: "An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25807885/ "DO", https://pubmed.ncbi.nlm.nih.gov/30422459/ "DO"]
synonym: "Libmann–Sachs, Endocarditis in systemic lupus erythematosus" EXACT []
xref: ICD10CM:M32.11
is_a: DOID:0060051 ! autoimmune disease of cardiovascular system
is_a: DOID:10314 ! endocarditis
created_by: mtutaj
creation_date: 2019-11-21T12:06:27Z

[Term]
id: DOID:0080741
name: limbic encephalitis
alt_id: DOID:9000429
alt_id: MESH:C531729
def: "An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520067/ "DO"]
synonym: "autoimmune limbic encephalitis" EXACT []
synonym: "paraneoplastic limbic encephalitides" EXACT []
synonym: "paraneoplastic limbic encephalitis" EXACT []
xref: GARD:8742
xref: MESH:D020363
is_a: DOID:0060004 ! autoimmune disease of central nervous system
is_a: DOID:9003736 ! Central Nervous System Viral Diseases
is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes
is_a: DOID:9588 ! encephalitis
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080742
name: autoimmune cholangitis
def: "An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15560034/ "DO", https://pubmed.ncbi.nlm.nih.gov/25374727/ "DO"]
synonym: "autoimmune cholangiopathy" EXACT []
is_a: DOID:2048 ! autoimmune hepatitis
is_a: DOID:9446 ! cholangitis
created_by: slaulede
creation_date: 2018-04-18T11:50:33Z

[Term]
id: DOID:0080743
name: transverse myelitis
def: "A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. (DO)" [https://www.mayoclinic.org/diseases-conditions/transverse-myelitis/symptoms-causes/syc-20354726 "DO", https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/transverse-myelitis-fact-sheet "DO"]
synonym: "acute transverse myelitis" EXACT []
synonym: "Demyelinative Myelitis" EXACT []
synonym: "IDIOPATHIC TRANSVERSE MYELITIS" NARROW []
synonym: "Necrotizing Myelitis" EXACT []
synonym: "Paraneoplastic Myelitis" EXACT []
synonym: "Postinfectious Myelitis" EXACT []
synonym: "Postvaccinal Myelitis" EXACT []
synonym: "subacute transverse myelitides" EXACT []
synonym: "Subacute Transverse Myelitis" EXACT []
synonym: "transverse myelopathy syndrome" EXACT []
synonym: "transverse myelopathy syndromes" EXACT []
xref: MESH:D009188
is_a: DOID:322 ! myelitis
is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes
is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0080744
name: antisynthetase syndrome
def: "An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. (DO)" [https://en.wikipedia.org/wiki/Antisynthetase_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/27594777/ "DO"]
xref: EFO:1001982
xref: GARD:735
xref: MESH:C537778
xref: ORDO:81
is_a: DOID:225 ! syndrome
is_a: DOID:417 ! autoimmune disease
is_a: DOID:633 ! myositis
created_by: rgd
creation_date: 2017-07-12T00:00:00Z

[Term]
id: DOID:0080745
name: polymyositis
alt_id: DOID:9007919
def: "A myositis that is characterized by muscle weakness affecting both sides of your body. (DO)" [https://my.clevelandclinic.org/health/diseases/12053-polymyositis "DO", https://www.mayoclinic.org/diseases-conditions/polymyositis/symptoms-causes/syc-20353208 "DO"]
synonym: "idiopathic polymyositides" EXACT []
synonym: "idiopathic polymyositis" EXACT []
synonym: "Juvenile Polymyositis" NARROW []
synonym: "Multiple Myositis" EXACT []
synonym: "Myositides, Multiple" EXACT []
synonym: "polymyositides" EXACT []
synonym: "polymyositis ossificans" EXACT []
synonym: "Scleroderma Polymyositis Overlap Syndrome" NARROW []
xref: EFO:0003063
xref: EFO:1001988
xref: EFO:1001994
xref: GARD:7425
xref: MESH:D017285
is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system
is_a: DOID:633 ! myositis
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080746
name: Sweet syndrome
def: "A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17655751/ "DO", https://rarediseases.org/rare-diseases/sweet-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK431050/ "DO"]
synonym: "acute febrile neutrophilic dermatosis" EXACT []
synonym: "AFND" EXACT []
synonym: "Gomm-Button disease" EXACT []
synonym: "MEFV-RELATED CONDITION" BROAD []
synonym: "NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE" EXACT []
synonym: "PAAND" EXACT []
synonym: "pyrin-associated autoinflammatory disease" EXACT []
synonym: "SS" EXACT []
synonym: "Sweet's syndrome" EXACT []
synonym: "Sweets syndrome" EXACT []
xref: GARD:521
xref: MESH:D016463
xref: MIM:608068
xref: MONDO:0011959
is_a: DOID:1205 ! allergic disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006976 ! Erythema
created_by: slaulede
creation_date: 2018-06-19T14:06:53Z

[Term]
id: DOID:0080747
name: chronic urticaria
def: "An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30033911/ "DO"]
synonym: "autoimmune urticaria" EXACT []
synonym: "chronic autoimmune urticaria" EXACT []
xref: MESH:D000080223
is_a: DOID:1555 ! urticaria
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080748
name: chronic inducible urticaria
def: "A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/ "DO"]
synonym: "chronic inducible urticarias" EXACT []
synonym: "CIndU" EXACT []
is_a: DOID:0080747 ! chronic urticaria
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080749
name: chronic spontaneous urticaria
def: "A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14501436/ "DO", https://pubmed.ncbi.nlm.nih.gov/28671445/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/ "DO"]
synonym: "chronic idiopathic urticaria" EXACT []
synonym: "chronic spontaneous urticarias" EXACT []
is_a: DOID:0080747 ! chronic urticaria
created_by: mtutaj
creation_date: 2019-03-19T12:34:20Z

[Term]
id: DOID:0080750
name: erythema nodosum
def: "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. (DO)" [https://en.wikipedia.org/wiki/Erythema_nodosum "DO", https://pubmed.ncbi.nlm.nih.gov/30269303/ "DO"]
xref: MESH:D004893
is_a: DOID:1526 ! panniculitis
is_a: DOID:9005236 ! Drug Eruptions
is_a: DOID:9006976 ! Erythema
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080751
name: keratosis pilaris atrophicans
def: "An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26142438/ "DO"]
synonym: "KPA" EXACT []
xref: MIM:604093
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1697 ! ichthyosis
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080752
name: keratosis pilaris atrophicans faciei
def: "A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area. (DO)" [https://dermnetnz.org/topics/keratosis-pilaris-atrophicans-faciei/ "DO"]
is_a: DOID:0080751 ! keratosis pilaris atrophicans
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080753
name: keratosis follicularis spinulosa decalvans
def: "A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639957/ "DO"]
xref: ORDO:2340
is_a: DOID:0080751 ! keratosis pilaris atrophicans
is_a: DOID:2734 ! keratosis follicularis
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080754
name: X-linked keratosis follicularis spinulosa decalvans
alt_id: MIM:308800
def: "A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18984066/ "DO"]
synonym: "keratosis follicularis spinulosa decalvans cum ophiasi" EXACT []
synonym: "KFSDX" EXACT []
xref: GARD:6829
xref: MESH:C536159
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0080753 ! keratosis follicularis spinulosa decalvans
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080755
name: autosomal dominant keratosis follicularis spinulosa decalvans
alt_id: MIM:612843
def: "A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18984066/ "DO"]
xref: MESH:C567553
is_a: DOID:0080753 ! keratosis follicularis spinulosa decalvans
is_a: DOID:9003137 ! Photophobia
is_a: DOID:987 ! alopecia
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080756
name: atrophoderma vermiculata
def: "A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19326693/ "DO"]
xref: GARD:9744
xref: MIM:209700
xref: ORDO:79100
is_a: DOID:0080751 ! keratosis pilaris atrophicans
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080757
name: Fanconi renotubular syndrome 1
def: "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11090339/ "DO"]
synonym: "FRTS1" EXACT []
synonym: "GATM-RELATED CONDITION" BROAD []
xref: MIM:134600
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1062 ! Fanconi syndrome
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080758
name: Fanconi renotubular syndrome 2
def: "A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO)" [https://ghr.nlm.nih.gov/gene/SLC34A1 "DO", https://pubmed.ncbi.nlm.nih.gov/26047794/ "DO"]
synonym: "FRTS2" EXACT []
xref: MIM:613388
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1062 ! Fanconi syndrome
created_by: slaulede
creation_date: 2018-08-17T14:06:11Z

[Term]
id: DOID:0080759
name: Fanconi renotubular syndrome 3
def: "A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24401050/ "DO"]
synonym: "EHHADH-RELATED CONDITION" EXACT []
synonym: "Fanconi syndrome 3" EXACT []
synonym: "FRTS3" EXACT []
xref: MIM:615605
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1062 ! Fanconi syndrome
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080760
name: Fanconi renotubular syndrome 4
def: "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24285859/ "DO", https://pubmed.ncbi.nlm.nih.gov/31875549/ "DO"]
synonym: "Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young" EXACT []
synonym: "FRTS4" EXACT []
synonym: "FRTS4 with MOD" EXACT []
synonym: "FRTS4 with MODY" EXACT []
xref: MIM:616026
is_a: DOID:0050524 ! maturity-onset diabetes of the young
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1062 ! Fanconi syndrome
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080761
name: Fanconi renotubular syndrome 5
def: "A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27466185/ "DO"]
synonym: "Acadian-variant Fanconi syndrome" EXACT []
synonym: "FRTS5" EXACT []
xref: MIM:618913
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1062 ! Fanconi syndrome
created_by: mtutaj
creation_date: 2019-04-09T15:35:57Z

[Term]
id: DOID:0080762
name: autosomal recessive limb-girdle muscular dystrophy type 2Z
def: "An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27807076/ "DO", https://pubmed.ncbi.nlm.nih.gov/31897643/ "DO"]
synonym: "LGMD2Z" EXACT []
synonym: "LGMDR21" EXACT []
synonym: "LGMD type 2Z" EXACT []
synonym: "limb-girdle muscular dystrophy 21" EXACT []
synonym: "limb-girdle muscular dystrophy type 2Z" EXACT []
synonym: "POGLUT1-RELATED CONDITION" BROAD []
synonym: "POGLUT1-related LGMD R21" EXACT []
synonym: "POGLUT1-related limb-girdle muscular dystrophy R21" EXACT []
xref: MIM:617232
xref: NCI:C142082
xref: ORDO:480682
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080763
name: diffuse gastric cancer
def: "A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer "DO"]
xref: GARD:10334
is_a: DOID:10534 ! stomach cancer
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080764
name: hereditary diffuse gastric cancer
def: "A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer "DO", https://pubmed.ncbi.nlm.nih.gov/20591882/ "DO", https://rarediseases.info.nih.gov/diseases/10900/disease "DO"]
synonym: "CDH1-RELATED DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME" EXACT []
synonym: "DGLBC" EXACT []
synonym: "DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME" EXACT []
synonym: "DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME WITH CLEFT LIP AND WITH OR WITHOUT CLEFT PALATE" RELATED []
synonym: "familial diffuse gastric cancer" EXACT []
synonym: "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR" EXACT []
synonym: "HDGC" EXACT []
synonym: "hereditary diffuse gastric cancers" EXACT []
synonym: "LBC" EXACT []
xref: GARD:10900
xref: MIM:137215
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080763 ! diffuse gastric cancer
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080765
name: autosomal recessive intellectual developmental disorder 72
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29302074/ "DO", https://pubmed.ncbi.nlm.nih.gov/31564433/ "DO"]
synonym: "autosomal recessive mental retardation 72" EXACT []
synonym: "MRT72" EXACT []
xref: EFO:0010654
xref: MIM:618665
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0080766
name: erythrokeratodermia variabilis et progressiva 6
def: "An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30528822/ "DO"]
synonym: "EKVP6" EXACT []
synonym: "TRPM4-RELATED CONDITION" BROAD []
synonym: "TRPM4-related disorder" BROAD []
xref: MIM:618531
is_a: DOID:0050467 ! erythrokeratodermia variabilis
is_a: DOID:0050736 ! autosomal dominant disease
created_by: mtutaj
creation_date: 2019-07-16T08:12:53Z

[Term]
id: DOID:0080767
name: autoimmune myocarditis
def: "An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5706653/ "DO"]
xref: GARD:9519
is_a: DOID:0060051 ! autoimmune disease of cardiovascular system
is_a: DOID:820 ! myocarditis

[Term]
id: DOID:0080768
name: pyridoxine-dependent epilepsy
def: "An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. (DO)" [https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/ "DO", https://rarediseases.org/rare-diseases/pyridoxine-dependent-epilepsy/ "DO"]
synonym: "EPD" EXACT []
synonym: "PDE" EXACT []
synonym: "pyridoxine dependency" EXACT []
synonym: "pyridoxine dependency with seizures" EXACT []
synonym: "pyridoxine-dependent seizures" EXACT []
synonym: "vitamin B6-dependent seizures" EXACT []
xref: GARD:9298
xref: MESH:C536254
xref: ORDO:3006
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1826 ! epilepsy
created_by: mtutaj
creation_date: 2020-09-15T00:00:00Z

[Term]
id: DOID:0080769
name: early-onset vitamin B6-dependent epilepsy 1
def: "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27912044/ "DO", https://pubmed.ncbi.nlm.nih.gov/30668673/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK589231/ "DO"]
synonym: "early-onset vitamin B6-dependent epilepsy" BROAD []
synonym: "EPEO1" EXACT []
synonym: "EPVB6D" EXACT []
synonym: "PDE-PLPBP" EXACT []
xref: MIM:617290
is_a: DOID:0080768 ! pyridoxine-dependent epilepsy
created_by: mtutaj
creation_date: 2020-09-15T00:00:00Z

[Term]
id: DOID:0080770
name: autosomal dominant beta thalassemia
def: "A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1971109/ "DO"]
synonym: "beta thalassemia, dominant inclusion body type" EXACT []
synonym: "congenital dyserythropoietic anemia, Irish or Weatherall type" EXACT []
synonym: "inclusion body beta-thalassemia" EXACT []
xref: MESH:C565834
xref: MIM:603902
xref: MONDO:0011381
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12241 ! beta thalassemia
created_by: mtutaj
creation_date: 2019-03-15T13:48:03Z

[Term]
id: DOID:0080771
name: beta-thalassemia major
alt_id: MIM:187550
def: "A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. (DO)" [https://ghr.nlm.nih.gov/condition/beta-thalassemia "DO", https://pubmed.ncbi.nlm.nih.gov/12480689/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/19258591 "DO"]
synonym: "beta+ thalassemia, silent allele" EXACT []
synonym: "beta-E-thalassemia" EXACT []
synonym: "BETA-KNOSSOS-THALASSEMIA" EXACT []
synonym: "Beta-Plus-Thalassemia" EXACT []
synonym: "BETA-PLUS-THALASSEMIA, DOMINANT" NARROW []
synonym: "Beta-Showa-Yakushiji Thalassemia" EXACT []
synonym: "beta-thal/Hb E" EXACT []
synonym: "beta-thalassemia hemoglobin E" EXACT []
synonym: "Cooley's Anemia" EXACT []
synonym: "Cooley anemia" EXACT []
synonym: "Cooleys anemia" EXACT []
synonym: "Double heterozygous for Hb E and beta thalassaemia" RELATED []
synonym: "HEMOGLOBIN BEOGRAD" RELATED []
synonym: "HEMOGLOBIN CAGLIARI" RELATED []
synonym: "HEMOGLOBIN D (CAMPERDOWN)" RELATED []
synonym: "HEMOGLOBIN DHOFAR" RELATED []
synonym: "HEMOGLOBIN DHONBURI" RELATED []
synonym: "Hemoglobin E" RELATED []
synonym: "HEMOGLOBIN KNOSSOS" RELATED []
synonym: "HEMOGLOBIN MALAY" RELATED []
synonym: "HEMOGLOBIN NEAPOLIS" RELATED []
synonym: "HEMOGLOBIN NORTH SHORE" RELATED []
synonym: "HEMOGLOBIN NORTH SHORE-CARACAS" RELATED []
synonym: "Hemoglobin Showa-Yakushiji" RELATED []
synonym: "HEMOGLOBIN TERRE HAUTE" RELATED []
synonym: "HEMOGLOBIN YUKUHASHI" RELATED []
synonym: "Thalassemia Major" EXACT []
synonym: "thalassemia major (beta thalassemia major)" EXACT []
xref: MESH:C566065
xref: NCI:C129699
xref: ORDO:231214
is_a: DOID:12241 ! beta thalassemia
created_by: mtutaj
creation_date: 2020-09-15T00:00:00Z

[Term]
id: DOID:0080772
name: beta-thalassemia intermedia
def: "A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life. (DO)" [https://ghr.nlm.nih.gov/condition/beta-thalassemia "DO"]
synonym: "thalassemia intermedia" EXACT []
synonym: "thalassemia intermedias" EXACT []
xref: ORDO:231222
is_a: DOID:12241 ! beta thalassemia
created_by: mtutaj
creation_date: 2020-09-15T00:00:00Z

[Term]
id: DOID:0080773
name: delta beta-thalassemia
alt_id: MIM:141749
def: "A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30706898/ "DO", https://pubmed.ncbi.nlm.nih.gov/31444804/ "DO"]
synonym: "British HPFH" RELATED []
synonym: "DELTA/BETA THALESSEMIA" EXACT []
synonym: "DELTA-PLUS-THALASSEMIA" EXACT []
synonym: "FETAL HEMOGLOBIN, A-GAMMA TYPE, REDUCTION IN" NARROW []
synonym: "Greek HPFH" NARROW []
synonym: "HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN" NARROW []
synonym: "hereditary persistence of fetal hemoglobin, HB gene cluster-related" NARROW []
synonym: "hereditary persistence of hemoglobin F" NARROW []
synonym: "HPFH" NARROW []
synonym: "Sardinian HPFH" NARROW []
synonym: "THALASSEMIA, GAMMA-DELTA-BETA" RELATED []
xref: MESH:C562716
xref: NCI:C172823
xref: ORDO:231237
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12241 ! beta thalassemia
is_a: DOID:9008244 ! Delta-Thalassemia
created_by: mtutaj
creation_date: 2020-09-15T00:00:00Z

[Term]
id: DOID:0080774
name: thalassemia minor
def: "A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia. (DO)" [https://ghr.nlm.nih.gov/condition/beta-thalassemia#inheritance "DO"]
synonym: "Thalassemia Minor (beta Thalassemia Minor)" EXACT []
is_a: DOID:12241 ! beta thalassemia
created_by: mtutaj
creation_date: 2019-11-25T10:35:58Z

[Term]
id: DOID:0080775
name: complete androgen insensitivity syndrome
def: "An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. (DO)" [https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome "DO"]
synonym: "complete androgen-insensitivity syndromes" EXACT []
xref: ICD10CM:E34.51
xref: ORDO:99429
is_a: DOID:4674 ! androgen insensitivity syndrome
created_by: rgd
creation_date: 2017-12-06T00:00:00Z

[Term]
id: DOID:0080776
name: partial androgen insensitivity syndrome
def: "An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26303084/ "DO"]
synonym: "ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER" NARROW []
synonym: "ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER" EXACT []
synonym: "FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1" EXACT []
synonym: "PAIS" EXACT []
synonym: "partial androgen insensitivities" EXACT []
synonym: "Partial Androgen Insensitivity" EXACT []
synonym: "Partial Androgen-Insensitivity Syndromes" EXACT []
synonym: "Reifenstein's Syndrome" EXACT []
synonym: "Reifensteins Syndrome" EXACT []
synonym: "Reifenstein syndrome" EXACT []
xref: GARD:5692
xref: MIM:312300
xref: MONDO:0010720
xref: NCI:C120192
xref: ORDO:90797
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:4674 ! androgen insensitivity syndrome
created_by: mtutaj
creation_date: 2020-09-15T00:00:00Z

[Term]
id: DOID:0080777
name: lung sarcomatoid carcinoma
def: "A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C45540 "DO", https://pubmed.ncbi.nlm.nih.gov/28081478/ "DO"]
synonym: "pulmonary sarcomatoid carcinoma" EXACT []
synonym: "sarcomatoid carcinoma of the lung" EXACT []
xref: EFO:1000336
xref: NCI:C45540
is_a: DOID:3905 ! lung carcinoma
created_by: mtutaj
creation_date: 2020-09-15T00:00:00Z

[Term]
id: DOID:0080778
name: transient infantile liver failure
def: "A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19732863/ "DO", https://pubmed.ncbi.nlm.nih.gov/21931168/ "DO", https://pubmed.ncbi.nlm.nih.gov/27689697/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045200/ "DO"]
synonym: "LFIT" EXACT []
synonym: "transient recurrent infantile liver failure" NARROW []
synonym: "TRMU-RELATED CONDITION" BROAD []
xref: GARD:10593
xref: MIM:613070
xref: ORDO:217371
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9004590 ! Acute Liver Failure
created_by: mtutaj
creation_date: 2020-09-15T00:00:00Z

[Term]
id: DOID:0080779
name: plasmablastic lymphoma
def: "A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467349/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430862/ "DO"]
synonym: "Plasmablastic Diffuse Large B cell Lymphoma" EXACT []
synonym: "plasmablastic lymphomas" EXACT []
synonym: "plasmablasts diffuse large B cell lymphoma" EXACT []
xref: ICDO:9735/3
xref: MESH:D000069293
xref: MONDO:0017347
xref: NCI:C7224
xref: ORDO:289666
is_a: DOID:0050745 ! diffuse large B-cell lymphoma
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0080780
name: acute erythroid leukemia
def: "An acute myeloid leukemia that is characterized by a predominant immature erythroid population. (DO)" [https://en.wikipedia.org/wiki/Acute_erythroid_leukemia "DO"]
xref: EFO:0000218
xref: ICDO:9840/3
xref: NCI:C8923
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0080781
name: benign exocrine pancreas neoplasm
def: "An endocrine organ benign neoplasm arising from the exocrine pancreas. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4613 "DO"]
xref: NCI:C4613
is_a: DOID:0060089 ! endocrine organ benign neoplasm
created_by: mtutaj
creation_date: 2019-04-09T14:40:19Z

[Term]
id: DOID:0080782
name: mucinous pancreas adenocarcinoma
def: "A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. (DO)" [https://www.nature.com/articles/s41598-018-24540-7 "DO"]
is_a: DOID:3030 ! mucinous adenocarcinoma
is_a: DOID:4074 ! pancreatic adenocarcinoma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080784
name: urinary tract infection
alt_id: MIM:603806
def: "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra. (DO)" [https://medlineplus.gov/urinarytractinfections.html "DO", https://www.cdc.gov/antibiotic-use/community/for-patients/common-illnesses/uti.html "DO", https://www.mayoclinic.org/diseases-conditions/urinary-tract-infection/symptoms-causes/syc-20353447 "DO"]
synonym: "urinary tract infections" EXACT []
synonym: "UTI" EXACT []
xref: EFO:0003103
xref: ICD10CM:N39.0
xref: MESH:D014552
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:18 ! urinary system disease
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080785
name: Brown-Vialetto-Van Laere syndrome 1
def: "A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20206331/ "DO"]
synonym: "BVVLS1" EXACT []
xref: MIM:211530
xref: NCI:C133724
is_a: DOID:0050694 ! Brown-Vialetto-Van Laere syndrome
is_a: DOID:0050737 ! autosomal recessive disease
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080786
name: Brown-Vialetto-Van Laere syndrome 2
def: "A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20206331/ "DO"]
synonym: "BVVLS2" EXACT []
synonym: "riboflavin transporter deficiency, type 2" EXACT []
synonym: "RTD2" EXACT []
xref: MIM:614707
xref: NCI:C183529
is_a: DOID:0050694 ! Brown-Vialetto-Van Laere syndrome
is_a: DOID:0050737 ! autosomal recessive disease
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080787
name: proximal symphalangism 1
def: "A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16353259/ "DO"]
synonym: "proximal symphalangism, 1A" EXACT []
synonym: "SYM1" EXACT []
synonym: "SYM1A" EXACT []
xref: MIM:185800
xref: MONDO:0020733
is_a: DOID:0050788 ! proximal symphalangism
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080788
name: proximal symphalangism 2
def: "A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16892395/ "DO"]
synonym: "proximal symphalangism, 1B" EXACT []
synonym: "SYM1B" EXACT []
xref: MIM:615298
is_a: DOID:0050788 ! proximal symphalangism
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080789
name: Treacher Collins syndrome 1
def: "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15340364/ "DO"]
synonym: "TCOF1-RELATED CONDITION" EXACT []
synonym: "TCS1" EXACT []
xref: MIM:154500
is_a: DOID:2908 ! Treacher Collins syndrome
created_by: rgd
creation_date: 2017-10-18T12:30:34Z

[Term]
id: DOID:0080790
name: Treacher Collins syndrome 2
def: "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25790162/ "DO"]
synonym: "TCS2" EXACT []
xref: MIM:613717
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2908 ! Treacher Collins syndrome
created_by: rgd
creation_date: 2017-07-11T00:00:00Z

[Term]
id: DOID:0080791
name: Treacher Collins syndrome 3
alt_id: MIM:248390
def: "A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11013442/ "DO"]
synonym: "Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive" EXACT []
synonym: "POLR1C-related disorder" BROAD []
synonym: "POLR1C-related disorders" BROAD []
synonym: "TCS3" EXACT []
synonym: "Treacher Collins syndrome, recessive" BROAD []
xref: MESH:C535707
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2908 ! Treacher Collins syndrome
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080792
name: Treacher Collins syndrome 4
def: "A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31649276/ "DO"]
synonym: "TCS4" EXACT []
xref: MIM:618939
is_a: DOID:2908 ! Treacher Collins syndrome
created_by: rgd
creation_date: 2017-12-04T00:00:00Z

[Term]
id: DOID:0080794
name: childhood acute megakaryoblastic leukemia
def: "An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28867167/ "DO", https://www.nature.com/articles/ng.3772 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7309653/ "DO"]
synonym: "acute megakaryoblastic leukemia without Down syndrome" EXACT []
synonym: "pediatric non-Down syndrome acute megakaryoblastic leukemia" EXACT []
xref: EFO:1001943
xref: NCI:C7972
is_a: DOID:8761 ! acute megakaryocytic leukemia
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080795
name: acute basophilic leukemia
def: "An acute myeloid leukemia that is characterized by primary differentiation to basophils. (DO)" [http://www.pathologyoutlines.com/topic/leukemiabasophil.html "DO", https://en.wikipedia.org/wiki/Acute_basophilic_leukemia "DO"]
synonym: "acute basophilic leukemias" EXACT []
xref: EFO:0003029
xref: ICDO:9870/3
xref: MESH:D015471
xref: NCI:C3164
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2019-09-03T13:24:45Z

[Term]
id: DOID:0080796
name: core binding factor acute myeloid leukemia
def: "An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26980726/ "DO"]
xref: EFO:1002001
xref: NCI:C122688
is_a: DOID:9119 ! acute myeloid leukemia
created_by: rgd
creation_date: 2017-03-07T00:00:00Z

[Term]
id: DOID:0080797
name: nasal type extranodal NK/T-cell lymphoma
def: "A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29602763/ "DO"]
synonym: "extranodal NK-T-cell lymphoma" EXACT []
synonym: "Extranodal NK T Cell Lymphoma, Nasal" EXACT []
synonym: "Extranodal NK T Cell Lymphoma, Nasal and Nasal Type" EXACT []
synonym: "Extranodal NK-T-Cell Lymphomas" EXACT []
xref: ICDO:9719/3
xref: MESH:D054391
xref: MONDO:0019472
xref: NCI:C4684
is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma
is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma
is_a: DOID:10811 ! nasal cavity cancer
created_by: mtutaj
creation_date: 2019-10-31T12:32:46Z

[Term]
id: DOID:0080798
name: myeloid leukemia associated with Down Syndrome
def: "An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26910243/ "DO", https://pubmed.ncbi.nlm.nih.gov/31606922/ "DO"]
synonym: "ACUTE MEGAKARYOBLASTIC LEUKEMIA IN DOWN SYNDROME" EXACT []
synonym: "megakaryoblastic leukemia of Down syndrome" EXACT []
xref: ICDO:9898/3
xref: MESH:C566025
xref: NCI:C43223
is_a: DOID:14250 ! Down syndrome
is_a: DOID:225 ! syndrome
is_a: DOID:8761 ! acute megakaryocytic leukemia
created_by: mtutaj
creation_date: 2019-03-27T08:09:55Z

[Term]
id: DOID:0080799
name: sinonasal undifferentiated carcinoma
def: "A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30806835/ "DO"]
xref: EFO:1000527
xref: MESH:C537344
xref: NCI:C54294
is_a: DOID:0050619 ! paranasal sinus cancer
is_a: DOID:4931 ! nasal cavity carcinoma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080800
name: salivary gland mucinous adenocarcinoma
def: "A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26908552/ "DO"]
xref: NCI:C62193
is_a: DOID:0050904 ! salivary gland carcinoma
is_a: DOID:3030 ! mucinous adenocarcinoma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080801
name: autosomal dominant craniometaphyseal dysplasia
alt_id: MIM:123000
def: "A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9382103/ "DO"]
synonym: "CMDD" EXACT []
synonym: "CMDJ" EXACT []
synonym: "CRANIOMETADIAPHYSEAL DYSPLASIA WORMIAN BONE TYPE" EXACT []
synonym: "craniometaphyseal dysplasia, dominant type" EXACT []
synonym: "craniometaphyseal dysplasia, Jackson type" EXACT []
xref: MESH:C565145
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080033 ! craniometaphyseal dysplasia
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080802
name: autosomal recessive craniometaphyseal dysplasia
alt_id: MIM:218400
def: "A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9382103/ "DO"]
synonym: "CMDR" EXACT []
synonym: "craniometaphyseal dysplasia, autosomal recessive type" EXACT []
xref: MESH:C536570
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080033 ! craniometaphyseal dysplasia
is_a: DOID:2339 ! Crouzon syndrome
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080803
name: cranioectodermal dysplasia 1
def: "A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/517478/ "DO"]
synonym: "CED1" EXACT []
synonym: "Levin syndrome I" EXACT []
xref: MIM:218330
is_a: DOID:0050577 ! cranioectodermal dysplasia
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080804
name: cranioectodermal dysplasia 2
def: "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21378380/ "DO"]
synonym: "CED2" EXACT []
synonym: "WDR35-related disorder" BROAD []
xref: MIM:613610
is_a: DOID:0050577 ! cranioectodermal dysplasia
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080805
name: cranioectodermal dysplasia 3
def: "A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21378380/ "DO"]
synonym: "CED3" EXACT []
xref: MIM:614099
is_a: DOID:0050577 ! cranioectodermal dysplasia
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080806
name: cranioectodermal dysplasia 4
def: "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21378380/ "DO"]
synonym: "CED4" EXACT []
xref: MIM:614378
is_a: DOID:0050577 ! cranioectodermal dysplasia
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080807
name: autosomal dominant craniodiaphyseal dysplasia
alt_id: MIM:122860
def: "A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21221996/ "DO"]
synonym: "CDD" EXACT []
synonym: "SOST-RELATED CONDITION" BROAD []
xref: MESH:C567275
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080032 ! craniodiaphyseal dysplasia
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080808
name: mammary analogue secretory carcinoma
def: "A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. (DO)" [http://www.pathologyoutlines.com/topic/salivaryglandsmammary.html "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643951/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113190/ "DO"]
xref: MESH:D000069295
is_a: DOID:0050904 ! salivary gland carcinoma
created_by: mtutaj
creation_date: 2019-09-03T14:22:06Z

[Term]
id: DOID:0080809
name: chronic asthma
def: "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK7223/ "DO", https://www.nhlbi.nih.gov/health-topics/asthma "DO"]
synonym: "chronic obstructive asthma" EXACT []
synonym: "chronic obstructive asthma with acute exacerbation" EXACT []
synonym: "chronic obstructive asthma with status asthmaticus" EXACT []
xref: EFO:0009759
is_a: DOID:2841 ! asthma
created_by: mtutaj
creation_date: 2020-08-03T12:16:16Z

[Term]
id: DOID:0080810
name: acute asthma
def: "An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27554811/ "DO"]
is_a: DOID:2841 ! asthma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080811
name: extrinsic asthma
def: "A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/ "DO"]
synonym: "atopic asthma" EXACT []
is_a: DOID:0080809 ! chronic asthma
is_a: DOID:1205 ! allergic disease
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080812
name: intermittent asthma
def: "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. (DO)" [https://www.aafp.org/afp/2009/0501/p761.html "DO"]
is_a: DOID:0080809 ! chronic asthma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080813
name: persistent mild asthma
def: "A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. (DO)" [https://www.aafp.org/afp/2009/0501/p761.html "DO"]
is_a: DOID:0080809 ! chronic asthma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080814
name: persistent moderate asthma
def: "A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. (DO)" [https://www.aafp.org/afp/2009/0501/p761.html "DO"]
is_a: DOID:0080809 ! chronic asthma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080815
name: childhood-onset asthma
def: "A chronic asthma that is characterized by first presentation in early childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/ "DO"]
synonym: "childhood asthma" EXACT []
xref: EFO:0004591
xref: MONDO:0005405
is_a: DOID:0080809 ! chronic asthma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080816
name: adult-onset severe asthma
def: "A chronic asthma that is characterized by first presentation in adulthood. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/ "DO"]
is_a: DOID:0080809 ! chronic asthma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:0080817
name: T2-high asthma
def: "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21281866/ "DO"]
synonym: "type 2 high endotype" EXACT []
is_a: DOID:0080809 ! chronic asthma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080818
name: T2-low asthma
def: "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21281866/ "DO"]
synonym: "type 2 low endotype" EXACT []
is_a: DOID:0080809 ! chronic asthma
created_by: mtutaj
creation_date: 2019-02-26T08:41:12Z

[Term]
id: DOID:0080819
name: environmental induced asthma
def: "An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK526018/ "DO"]
synonym: "irritant asthma" EXACT []
is_a: DOID:9360 ! intrinsic asthma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080820
name: occupational asthma
def: "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace. (DO)" [https://medlineplus.gov/ency/article/000110.htm "DO", https://www.hopkinsmedicine.org/health/conditions-and-diseases/asthma/occupational-asthma "DO"]
synonym: "occupational asthmas" EXACT []
xref: MESH:D059366
is_a: DOID:0080819 ! environmental induced asthma
is_a: DOID:9005463 ! Occupational Diseases
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080821
name: exercise-induced bronchoconstriction
def: "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29631730/ "DO"]
synonym: "Exercise-Induced Asthma" EXACT []
synonym: "exercise-induced asthmas" EXACT []
synonym: "Exercise Induced Bronchospasm" EXACT []
synonym: "exercise-induced bronchospasms" EXACT []
xref: MESH:D001250
is_a: DOID:9360 ! intrinsic asthma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080822
name: aspirin-induced respiratory disease
def: "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11028656/ "DO"]
synonym: "Aspirin-Induced Asthma" EXACT []
synonym: "Aspirin Induced Asthmas" EXACT []
synonym: "aspirin-induced asthma, susceptibility to" RELATED []
synonym: "Aspirin Induced Asthma Syndrome" EXACT []
synonym: "Aspirin-Induced Asthma Syndromes" EXACT []
synonym: "aspirin-sensitive asthma" EXACT []
synonym: "NSAID-induced asthma" EXACT []
synonym: "NSAID-induced asthmas" EXACT []
synonym: "obsolete_aspirin induced asthma - now uses HP:0012042" EXACT []
xref: EFO:0004590
xref: MESH:D055963
is_a: DOID:0060500 ! drug allergy
is_a: DOID:9360 ! intrinsic asthma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080823
name: near-fatal asthma
def: "An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27425166/ "DO"]
is_a: DOID:0080810 ! acute asthma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080824
name: persistent severe asthma
def: "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. (DO)" [https://www.aafp.org/afp/2009/0501/p761.html "DO"]
is_a: DOID:0080809 ! chronic asthma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080825
name: thunderstorm triggered asthma
def: "An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29413334/ "DO", https://pubmed.ncbi.nlm.nih.gov/29880151/ "DO", https://pubmed.ncbi.nlm.nih.gov/31190900/ "DO"]
synonym: "thunderstorm asthma" EXACT []
synonym: "thunderstorm related asthma" EXACT []
is_a: DOID:9415 ! allergic asthma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080826
name: nocturnal asthma
def: "A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17571537/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197640/ "DO"]
is_a: DOID:0080809 ! chronic asthma
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080827
name: human cytomegalovirus infection
def: "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25205255/ "DO"]
is_a: DOID:9006262 ! Cytomegalovirus Infections
created_by: mtutaj
creation_date: 2019-02-08T16:50:05Z

[Term]
id: DOID:0080828
name: VEXAS syndrome
def: "A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11. (DO)" [https://www.nejm.org/doi/full/10.1056/NEJMoa2026834 "DO", https://www.nih.gov/news-events/news-releases/scientists-use-clues-human-genome-discover-new-inflammatory-syndrome "DO"]
synonym: "vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome" EXACT []
synonym: "VEXAS" EXACT []
synonym: "VEXAS syndrome, somatic" EXACT []
xref: MIM:301054
xref: ORDO:596753
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:417 ! autoimmune disease
created_by: rgd
creation_date: 2016-09-13T00:00:00Z

[Term]
id: DOID:0080829
name: low grade glioma
alt_id: DOID:0060101
def: "A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). (DO)" [http://www.danafarberbostonchildrens.org/conditions/brain-tumor/low-grade-glioma.aspx "DO", https://www.cancer.gov/publications/dictionaries/cancer-terms/def/glioma "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361022/ "DO"]
synonym: "benign glioma" EXACT []
xref: NCI:C132067
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:9006391 ! Spinal Cord Neoplasms
is_a: DOID:9007502 ! Brain Neoplasms
created_by: mtutaj
creation_date: 2020-11-11T00:00:00Z

[Term]
id: DOID:0080830
name: childhood low-grade glioma
def: "A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23583981/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917804/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786244/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066826/ "DO"]
synonym: "pediatric low-grade glioma" EXACT []
is_a: DOID:0080829 ! low grade glioma
created_by: mtutaj
creation_date: 2019-02-11T08:31:15Z

[Term]
id: DOID:0080831
name: subjective cognitive decline
def: "A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24798886/ "DO"]
is_a: DOID:1561 ! cognitive disorder
created_by: mtutaj
creation_date: 2020-09-24T13:35:13Z

[Term]
id: DOID:0080832
name: mild cognitive impairment
def: "A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29282327/ "DO"]
synonym: "mild cognitive impairments" EXACT []
synonym: "mild neurocognitive disorder" EXACT []
synonym: "mild neurocognitive disorders" EXACT []
xref: EFO:0007982
is_a: DOID:9002775 ! Cognitive Dysfunction
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0080833
name: laryngomalacia
alt_id: MIM:150280
def: "A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. (DO)" [https://www.childrenshospital.org/conditions-and-treatments/conditions/l/laryngomalacia "DO", https://www.childrenshospitalvanderbilt.org/medical-conditions/laryngomalacia "DO"]
synonym: "chondromalacia of larynx" EXACT []
synonym: "congenital laryngomalacia" EXACT []
synonym: "laryngomalacias" EXACT []
synonym: "larynx chondromalacia" EXACT []
synonym: "larynx chondromalacias" EXACT []
xref: GARD:6865
xref: ICD10CM:Q31.5
xref: MESH:D055092
xref: ORDO:2373
is_a: DOID:0080015 ! physical disorder
is_a: DOID:1222 ! cartilage disease
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0080834
name: acquired laryngomalacia
def: "A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24615649/ "DO"]
is_a: DOID:786 ! laryngeal disease
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0080835
name: TORCH syndrome
def: "A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32317443/ "DO", https://pubmed.ncbi.nlm.nih.gov/32734340/ "DO", https://rarediseases.org/rare-diseases/torch-syndrome/ "DO", https://www.childrenshospital.org/conditions-and-treatments/conditions/t/torch "DO"]
xref: GARD:7781
is_a: DOID:0080015 ! physical disorder
is_a: DOID:225 ! syndrome
created_by: mtutaj
creation_date: 2020-10-22T13:51:21Z

[Term]
id: DOID:0080836
name: growth hormone insensitivity syndrome with immune dysregulation 1
alt_id: MIM:245590
def: "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16787985/ "DO"]
synonym: "GHISID1" EXACT []
synonym: "growth hormone insensitivity due to postreceptor defect" EXACT []
synonym: "growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive" EXACT []
synonym: "growth hormone insensitivity with immune dysregulation 1" EXACT []
synonym: "growth hormone insensitivity with immune dysregulation 1, autosomal recessive" EXACT []
synonym: "growth hormone insensitivity with immunodeficiency" EXACT []
synonym: "Laron syndrome due to postreceptor defect" EXACT []
synonym: "Laron syndrome type 2" EXACT []
synonym: "Laron type dwarfism 2" EXACT []
xref: GARD:3924
xref: MESH:C537871
xref: ORDO:220465
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9000309 ! Growth Hormone Insensitivity with Immune Dysregulation
created_by: mtutaj
creation_date: 2020-12-22T09:44:00Z

[Term]
id: DOID:0080837
name: growth hormone insensitivity syndrome with immune dysregulation 2
def: "A syndrome that is characterized by short stature due to insensitivity to growth hormone and\nthat has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29844444/ "DO"]
synonym: "GHISID2" EXACT []
synonym: "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" EXACT []
synonym: "growth hormone insensitivity with immune dysregulation 2" EXACT []
synonym: "growth hormone insensitivity with immune dysregulation 2, autosomal dominant" EXACT []
xref: MIM:618985
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9000309 ! Growth Hormone Insensitivity with Immune Dysregulation
created_by: mtutaj
creation_date: 2020-12-22T13:56:00Z

[Term]
id: DOID:0080839
name: X-linked warfarin sensitivity
def: "An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29450643/ "DO"]
synonym: "COUMARIN SENSITIVITY, X-LINKED" EXACT []
xref: EFO:0021801
xref: MIM:301052
is_a: DOID:0080666 ! warfarin sensitivity
created_by: mtutaj
creation_date: 2020-07-07T07:31:13Z

[Term]
id: DOID:0080840
name: optic atrophy 12
def: "An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32219868/ "DO"]
synonym: "OPA12" EXACT []
xref: MIM:618977
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies
created_by: mtutaj
creation_date: 2019-02-22T10:16:06Z

[Term]
id: DOID:0080841
name: pemphigoid
def: "An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. (DO)" [https://rarediseases.org/rare-diseases/pemphigus/ "DO"]
synonym: "pemphigoids" EXACT []
xref: NCI:C34908
is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue
is_a: DOID:8502 ! bullous skin disease
created_by: mtutaj
creation_date: 2020-07-31T11:50:10Z

[Term]
id: DOID:0080842
name: intracranial meningioma
def: "A meningioma that arises within the cranial cavity. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17961033/ "DO"]
synonym: "intracranial meningiomas" EXACT []
xref: NCI:C4656
is_a: DOID:3565 ! meningioma
created_by: mtutaj
creation_date: 2020-12-22T14:19:00Z

[Term]
id: DOID:0080843
name: supratentorial meningioma
def: "A meningioma that affects the supratentorial brain. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26636386/ "DO"]
synonym: "supratentorial meningiomas" EXACT []
xref: NCI:C7048
is_a: DOID:3565 ! meningioma
created_by: mtutaj
creation_date: 2020-12-22T14:30:11Z

[Term]
id: DOID:0080844
name: omodysplasia 1
alt_id: MIM:258315
def: "An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17823719/ "DO"]
synonym: "OMOD1" EXACT []
synonym: "omodysplasia (Maroteaux)" EXACT []
synonym: "omodysplasia, autosomal recessive" EXACT []
synonym: "omodysplasia, autosomal recessive form" EXACT []
synonym: "omodysplasia, generalized form" EXACT []
synonym: "omodysplasia type 1" EXACT []
xref: MESH:C537746
xref: ORDO:93329
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060288 ! omodysplasia
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9006502 ! Congenital Micromelic Dysplasia with Dislocation of Radius
created_by: mtutaj
creation_date: 2020-12-22T14:34:11Z

[Term]
id: DOID:0080845
name: omodysplasia 2
alt_id: MIM:164745
def: "An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25759469/ "DO"]
synonym: "OMOD2" EXACT []
synonym: "omodysplasia, autosomal dominant" EXACT []
xref: MESH:C567664
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060288 ! omodysplasia
is_a: DOID:9001487 ! Facies
created_by: mtutaj
creation_date: 2020-12-22T14:37:11Z

[Term]
id: DOID:0080846
name: latent autoimmune diabetes in adults
def: "A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29947172/ "DO", https://pubmed.ncbi.nlm.nih.gov/30565440/ "DO"]
synonym: "Diabetes Mellitus Type 1.5" EXACT []
synonym: "LADA" EXACT []
synonym: "LADA, Latent Autoimmune Diabetes in Adults" EXACT []
synonym: "Latent Autoimmune Diabetes of Adults" EXACT []
synonym: "type 1.5 diabetes" EXACT []
xref: EFO:0009706
xref: MESH:D000071698
is_a: DOID:9744 ! type 1 diabetes mellitus
created_by: mtutaj
creation_date: 2020-12-22T14:40:11Z

[Term]
id: DOID:0080848
name: long COVID
def: "A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. (DO)" [https://www.bmj.com/content/371/bmj.m4470 "DO", https://www.medrxiv.org/content/10.1101/2020.10.07.20208249v1 "DO", https://www.medrxiv.org/content/10.1101/2020.10.07.20208702v1 "DO", https://www.medrxiv.org/content/10.1101/2020.10.13.20211854v1 "DO", https://www.nature.com/articles/d41586-020-02796-2 "DO"]
synonym: "chronic COVID-19" EXACT []
synonym: "LONG COVID-19" EXACT []
synonym: "PASC" EXACT []
synonym: "post-acute sequelae of SARS-CoV-2 infection" EXACT []
synonym: "POST-COVID-19 DISORDER" EXACT []
synonym: "post-COVID syndrome" EXACT []
is_a: DOID:0080599 ! Coronavirus infectious disease
created_by: mtutaj
creation_date: 2019-02-08T15:10:09Z

[Term]
id: DOID:0080849
name: ocular motor apraxia, Cogan type
alt_id: MIM:257550
def: "An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements. (DO)" [https://en.wikipedia.org/wiki/Oculomotor_apraxia "DO", https://eyewiki.aao.org/Oculomotor_Apraxia "DO", https://rarediseases.org/rare-diseases/ocular-motor-apraxia-cogan-type/ "DO"]
synonym: "Cogan's syndrome, type 2" EXACT []
synonym: "COMA" EXACT []
synonym: "congenital oculomotor apraxia" EXACT []
synonym: "congenital saccade initiation failure" EXACT []
synonym: "Ocular Motor Apraxia" EXACT []
synonym: "Oculomotor Apraxia, Cogan Type" EXACT []
xref: GARD:16
xref: MESH:C537423
xref: ORDO:1404
is_a: DOID:0060135 ! apraxia
is_a: DOID:0060216 ! Cogan syndrome
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080850
name: pemphigus foliaceus
def: "A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin. (DO)" [https://dermnetnz.org/topics/pemphigus-foliaceus/ "DO"]
synonym: "pemphigus foliaceous" EXACT []
xref: EFO:0008601
xref: GARD:7354
xref: ICD10CM:L10.2
is_a: DOID:9182 ! pemphigus
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080851
name: IgA pemphigus
def: "A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK519063/ "DO"]
xref: EFO:0008604
is_a: DOID:9182 ! pemphigus
created_by: mtutaj
creation_date: 2020-11-18T14:27:34Z

[Term]
id: DOID:0080852
name: paraneoplastic pemphigus
def: "A pemphigus that is characterized by painful blisters and denuded areas of the mouth, lips, oesophagus and skin. (DO)" [https://dermnetnz.org/topics/paraneoplastic-pemphigus/ "DO", https://en.wikipedia.org/wiki/Paraneoplastic_pemphigus "DO"]
xref: EFO:0008602
xref: ICD10CM:L10.81
is_a: DOID:9182 ! pemphigus
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080854
name: anaplastic pleomorphic xanthoastrocytoma
def: "A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields. (DO)" [https://www.hindawi.com/journals/crinm/2018/6428492/ "DO"]
xref: NCI:C129327
is_a: DOID:3069 ! malignant astrocytoma
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080855
name: Parkinsonism
def: "A movement disorder that is characterized by disturbances of balance, gait and posture. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578144/ "DO"]
synonym: "autosomal dominant juvenile Parkinson disease" EXACT []
synonym: "Autosomal Dominant Juvenile Parkinsonism" EXACT []
synonym: "Autosomal Dominant Parkinsonism" EXACT []
synonym: "Autosomal Recessive Juvenile Parkinson Disease" EXACT []
synonym: "Autosomal Recessive Parkinsonism" EXACT []
synonym: "Autosomal Recesssive Juvenile Parkinsonism" EXACT []
synonym: "Chromosome 6 Linked Autosomal Recessive Parkinsonism" EXACT []
synonym: "EPDF" EXACT []
synonym: "Experimental Parkinson Disease" EXACT []
synonym: "experimental Parkinson diseases" EXACT []
synonym: "Experimental Parkinsonism" EXACT []
synonym: "Familial Juvenile Parkinsonism" EXACT []
synonym: "Familial Parkinson Disease, Autosomal Recessive" EXACT []
synonym: "Juvenile Parkinson Disease" EXACT []
synonym: "Juvenile Parkinsonism" EXACT []
synonym: "Juvenile Parkinsonism, Autosomal Recessive" EXACT []
synonym: "MPTP Induced Experimental Parkinsonism" EXACT []
synonym: "parkinsonian diseases" EXACT []
synonym: "Parkinsonian disorder" EXACT []
synonym: "Parkinsonian Disorders" EXACT []
synonym: "Parkinsonian Syndrome" EXACT []
synonym: "parkinsonian syndromes" EXACT []
synonym: "PDJ" EXACT []
synonym: "Ramsay Hunt paralysis syndrome" EXACT []
xref: MESH:D020734
is_a: DOID:480 ! movement disease
is_a: DOID:679 ! basal ganglia disease
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080856
name: vascular Parkinsonism
def: "A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327701/ "DO"]
is_a: DOID:0080855 ! Parkinsonism
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080857
name: primary ovarian insufficiency 1
alt_id: DOID:9005363
def: "A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28). (DO)" [https://pubmed.ncbi.nlm.nih.gov/27861765/ "DO"]
synonym: "FMR1-related primary ovarian insufficiency" EXACT []
synonym: "fragile X-associated primary ovarian insufficiency" EXACT []
synonym: "Fragile X Premature Ovarian Failure" EXACT []
synonym: "POF1" EXACT []
synonym: "premature ovarian failure 1" EXACT []
xref: GARD:4480
xref: MIM:311360
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080858
name: primary ovarian insufficiency 2A
def: "A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9497258/ "DO"]
synonym: "POF2A" EXACT []
synonym: "premature ovarian failure 2A" EXACT []
xref: MESH:C564498
xref: MIM:300511
xref: MONDO:0010350
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080859
name: primary ovarian insufficiency 2B
alt_id: MIM:300604
def: "A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16773570/ "DO"]
synonym: "POF1B-RELATED CONDITION" EXACT []
synonym: "POF2B" EXACT []
synonym: "premature ovarian failure 2B" EXACT []
xref: MESH:C564476
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080860
name: primary ovarian insufficiency 3
alt_id: MIM:608996
def: "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12149404/ "DO"]
synonym: "POF3" EXACT []
synonym: "premature ovarian failure 3" EXACT []
xref: MESH:C563816
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080861
name: primary ovarian insufficiency 4
def: "A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11. (DO)" [https://omim.org/entry/300510 "DO"]
is_a: DOID:0080494 ! ovarian dysgenesis 2
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2012-05-15T00:00:00Z

[Term]
id: DOID:0080862
name: primary ovarian insufficiency 5
def: "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17701902/ "DO"]
synonym: "POF5" EXACT []
synonym: "premature ovarian failure 5" EXACT []
xref: MESH:C566921
xref: MIM:611548
xref: MONDO:0012689
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2019-02-12T10:06:58Z

[Term]
id: DOID:0080863
name: primary ovarian insufficiency 6
alt_id: MIM:612310
def: "A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18499083/ "DO"]
synonym: "POF6" EXACT []
synonym: "premature ovarian failure 6" EXACT []
xref: MESH:C567351
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080864
name: primary ovarian insufficiency 7
alt_id: MIM:612964
def: "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26523528/ "DO"]
synonym: "ADRENAL INSUFFICIENCY, NR5A1-RELATED" NARROW []
synonym: "POF7" EXACT []
synonym: "premature ovarian failure 7" EXACT []
xref: MESH:C567838
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080865
name: primary ovarian insufficiency 8
def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24597867/ "DO"]
synonym: "POF8" EXACT []
synonym: "premature ovarian failure 8" EXACT []
synonym: "primary ovarian failure 8" EXACT []
xref: MIM:615723
xref: MONDO:0014321
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080866
name: primary ovarian insufficiency 9
def: "A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24597873/ "DO"]
synonym: "POF9" EXACT []
synonym: "premature ovarian failure 9" EXACT []
xref: MIM:615724
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080867
name: primary ovarian insufficiency 10
def: "A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25873734/ "DO"]
synonym: "POF10" EXACT []
synonym: "premature ovarian failure 10" EXACT []
xref: MIM:612885
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: rgd
creation_date: 2017-03-01T00:00:00Z

[Term]
id: DOID:0080868
name: primary ovarian insufficiency 11
def: "A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26218421/ "DO"]
synonym: "POF11" EXACT []
synonym: "premature ovarian failure 11" EXACT []
xref: MIM:616946
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080869
name: primary ovarian insufficiency 12
def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25062452/ "DO"]
synonym: "POF12" EXACT []
synonym: "premature ovarian failure 12" EXACT []
xref: MIM:616947
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2019-02-12T09:55:06Z

[Term]
id: DOID:0080870
name: primary ovarian insufficiency 13
def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28175301/ "DO"]
synonym: "POF13" EXACT []
synonym: "premature ovarian failure 13" EXACT []
xref: MIM:617442
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080871
name: primary ovarian insufficiency 14
def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29044499/ "DO"]
synonym: "POF14" EXACT []
synonym: "premature ovarian failure 14" EXACT []
xref: MIM:618014
xref: MONDO:0044777
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080872
name: primary ovarian insufficiency 15
def: "A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29231814/ "DO"]
synonym: "POF15" EXACT []
synonym: "premature ovarian failure 15" EXACT []
xref: MIM:618096
xref: MONDO:0054862
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080873
name: primary ovarian insufficiency 16
def: "A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30010909/ "DO"]
synonym: "genetic non-acquired premature ovarian failure" EXACT []
synonym: "POF16" EXACT []
synonym: "premature ovarian failure 16" EXACT []
xref: EFO:0010646
xref: MIM:618723
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080874
name: primary ovarian insufficiency 17
def: "A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30489636/ "DO"]
synonym: "POF17" EXACT []
synonym: "premature ovarian failure 17" EXACT []
xref: MIM:619146
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0080875
name: IDH-mutant anaplastic astrocytoma
def: "An anaplastic astrocytoma carrying IDH mutations. (DO)" [https://www.pathologyoutlines.com/topic/anaastroidhmutant.html "DO"]
synonym: "ASTROCYTOMA IDH-MUTANT" RELATED []
xref: NCI:C185167
is_a: DOID:3078 ! anaplastic astrocytoma
created_by: mtutaj
creation_date: 2021-02-24T20:16:11Z

[Term]
id: DOID:0080876
name: IDH-wildtype anaplastic astrocytoma
def: "An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. (DO)" [https://www.pathologyoutlines.com/topic/cnstumoranaastroIDHwild.html "DO"]
xref: NCI:C129291
is_a: DOID:3078 ! anaplastic astrocytoma
created_by: mtutaj
creation_date: 2019-11-21T12:09:18Z

[Term]
id: DOID:0080877
name: astrocytoma, IDH-mutant, grade 4
def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33692446/ "DO"]
xref: ICDO:9445/3
xref: NCI:C167335
is_a: DOID:0080875 ! IDH-mutant anaplastic astrocytoma
created_by: mtutaj
creation_date: 2020-06-26T10:54:07Z

[Term]
id: DOID:0080878
name: IDH-wildtype glioblastoma
def: "A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. (DO)" [https://www.pathologyoutlines.com/topic/cnstumortumorglioIDHwild.html "DO"]
xref: NCI:C39750
is_a: DOID:3068 ! glioblastoma
created_by: slaulede
creation_date: 2019-01-14T14:12:02Z

[Term]
id: DOID:0080879
name: histone mutated tumor
def: "A high grade glioma that has_material_basis_in mutations in the genes encoding histones. (DO)" [https://www.annualreviews.org/doi/abs/10.1146/annurev-cancerbio-030617-050143 "DO"]
synonym: "histone mutated tumour" EXACT []
is_a: DOID:3070 ! high grade glioma
created_by: mtutaj
creation_date: 2021-02-24T20:35:11Z

[Term]
id: DOID:0080880
name: diffuse glioma, H3 G34 mutant
def: "A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30358620/ "DO"]
xref: ICDO:9385/3
xref: NCI:C185371
is_a: DOID:0080879 ! histone mutated tumor
created_by: mtutaj
creation_date: 2021-02-24T20:39:11Z

[Term]
id: DOID:0080881
name: pleomorphic xanthoastrocytoma BRAF mutant
def: "An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. (DO)" [https://www.futuremedicine.com/doi/10.2217/cns-2019-0009 "DO"]
is_a: DOID:0080854 ! anaplastic pleomorphic xanthoastrocytoma
created_by: mtutaj
creation_date: 2019-06-11T11:14:07Z

[Term]
id: DOID:0080882
name: IDH-mutant and 1p/19q-codeleted oligodendroglioma
def: "An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). (DO)" [https://www.nature.com/articles/s41598-020-68733-5 "DO", https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html "DO"]
synonym: "anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted" EXACT []
xref: NCI:C129321
is_a: DOID:7154 ! anaplastic oligodendroglioma
created_by: gthayman
creation_date: 2019-04-10T05:26:22Z

[Term]
id: DOID:0080883
name: vitamin D-dependent rickets
def: "A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia. (DO)" [https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets "DO"]
xref: ICD9CM:268.0
xref: MONDO:0024299
is_a: DOID:0080006 ! bone development disease
is_a: DOID:10609 ! rickets
created_by: mtutaj
creation_date: 2021-02-24T20:50:11Z

[Term]
id: DOID:0080884
name: vitamin D-dependent rickets type 2A
alt_id: MIM:277440
alt_id: OMIA:001431
def: "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27705794/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ "DO"]
synonym: "generalized resistance to 1,25-dihydroxyvitamin D" EXACT []
synonym: "HVDRR" EXACT []
synonym: "HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS" EXACT []
synonym: "PDDR IIA" EXACT []
synonym: "Pseudovitamin D-Deficiency, Type IIA" EXACT []
synonym: "rickets-alopecia syndrome" EXACT []
synonym: "VDDR2A" EXACT []
synonym: "vitamin D-deficiency rickets, type II" EXACT []
synonym: "vitamin D-dependent rickets type 2A, with or without alopecia" EXACT []
synonym: "vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol" EXACT []
xref: MESH:C562794
xref: ORDO:93160
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080883 ! vitamin D-dependent rickets
created_by: mtutaj
creation_date: 2021-02-24T20:56:11Z

[Term]
id: DOID:0080885
name: vitamin D-dependent rickets type 2B
alt_id: MIM:600785
def: "A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ "DO"]
synonym: "VDDR2B" EXACT []
synonym: "Vitamin D-Dependent Rickets, Type 2B, with Normal Vitamin D Receptor" EXACT []
xref: MESH:C567571
is_a: DOID:0080883 ! vitamin D-dependent rickets
created_by: mtutaj
creation_date: 2021-01-04T17:21:15Z

[Term]
id: DOID:0080886
name: vitamin D-dependent rickets type 1A
alt_id: MIM:264700
alt_id: OMIA:000837
def: "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27705794/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ "DO"]
synonym: "1-alpha, 25-hydroxyvitamin D3 deficiency, selective" EXACT []
synonym: "1-Alpha-Hydroxylase Deficiency" EXACT []
synonym: "25-Hydroxycholecalciferol-1-Hydroxylase Deficiency" EXACT []
synonym: "CYP27B1-RELATED CONDITION" EXACT []
synonym: "PDDR1A" EXACT []
synonym: "PDDR IA" EXACT []
synonym: "Pseudovitamin D-Deficiency Rickets, Type IA" EXACT []
synonym: "VDD1" EXACT []
synonym: "VDDR1A" EXACT []
synonym: "vitamin D-deficiency rickets, type I" RELATED []
synonym: "Vitamin D Dependency, Type 1" EXACT []
synonym: "vitamin D hydroxylation-deficient rickets, type 1A" EXACT []
xref: MESH:C562688
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080883 ! vitamin D-dependent rickets
created_by: mtutaj
creation_date: 2021-02-24T21:11:11Z

[Term]
id: DOID:0080887
name: vitamin D-dependent rickets type 1B
alt_id: MIM:600081
def: "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26365513/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ "DO"]
synonym: "pseudovitamin D3 deficiency rickets due to 25-hydroxylase deficiency" EXACT []
synonym: "selective 25-hydroxyvitamin D3 deficiency" EXACT []
synonym: "VDDR1B" EXACT []
synonym: "vitamin D hydroxylation-deficient rickets, type 1B" EXACT []
xref: MESH:C564005
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080883 ! vitamin D-dependent rickets
created_by: mtutaj
creation_date: 2021-02-24T21:15:11Z

[Term]
id: DOID:0080888
name: spinal ependymoma, MYCN-amplified
def: "A spinal cord ependymoma that is characterized by MYCN amplification. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851394/ "DO"]
synonym: "Spinal Cord Ependymoma, MYCN Amplified" EXACT []
synonym: "spinal ependymoma, MYCN" EXACT []
xref: NCI:C186494
is_a: DOID:5503 ! spinal cord ependymoma
created_by: mtutaj
creation_date: 2019-12-30T09:36:31Z

[Term]
id: DOID:0080889
name: posterior fossa ependymoma
def: "A high grade ependymoma that is located within the posterior fossa. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26351223/ "DO", https://pubmed.ncbi.nlm.nih.gov/32502305/ "DO"]
is_a: DOID:5074 ! high grade ependymoma
created_by: mtutaj
creation_date: 2021-02-24T21:21:11Z

[Term]
id: DOID:0080890
name: supratentorial ependymoma
def: "A high grade ependymoma that is located within the supratentorial brain. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27858204/ "DO"]
xref: ICDO:9391/3
is_a: DOID:5074 ! high grade ependymoma
created_by: mtutaj
creation_date: 2021-02-24T21:24:11Z

[Term]
id: DOID:0080891
name: YAP1-MAMLD1 fusion-positive supratentorial ependymoma
def: "A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. (DO)" [https://www.nature.com/articles/s41467-019-11884-5 "DO"]
is_a: DOID:0080890 ! supratentorial ependymoma
created_by: mtutaj
creation_date: 2021-02-24T21:28:11Z

[Term]
id: DOID:0080892
name: RELA fusion-positive ependymoma
def: "A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. (DO)" [https://www.pathologyoutlines.com/topic/cnstumorependymomarelafusion.html "DO"]
synonym: "C11orf95 fusion-positive supratentorial ependymoma" EXACT []
synonym: "supratentorial C11ORF95-RELA fused ependymoma" EXACT []
xref: ICDO:9396/3
xref: NCI:C129351
xref: ORDO:530792
is_a: DOID:0080890 ! supratentorial ependymoma
created_by: mtutaj
creation_date: 2021-02-24T21:33:11Z

[Term]
id: DOID:0080893
name: Bainbridge-Ropers syndrome
def: "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23383720/ "DO", https://pubmed.ncbi.nlm.nih.gov/23672984/ "DO", https://pubmed.ncbi.nlm.nih.gov/27901041/ "DO", https://pubmed.ncbi.nlm.nih.gov/32132929/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK563693/ "DO"]
synonym: "ASXL3-related disorder" EXACT []
synonym: "BRPS" EXACT []
xref: GARD:13259
xref: MIM:615485
xref: ORDO:352577
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008514 ! Psychomotor Disorders
created_by: rgd
creation_date: 2017-10-19T14:54:04Z

[Term]
id: DOID:0080894
name: lipofibromatosis-like neural tumor
def: "A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. (DO)" [https://clinicalsarcomaresearch.biomedcentral.com/articles/10.1186/s13569-020-00136-6 "DO", https://pubmed.ncbi.nlm.nih.gov/27259011/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993549/ "DO"]
is_a: DOID:201 ! connective tissue cancer
created_by: gthayman
creation_date: 2019-04-19T13:25:27Z

[Term]
id: DOID:0080895
name: rapidly involuting congenital hemangioma
def: "A hemangioma that is characterized by complete regression. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786408/ "DO"]
xref: NCI:C172207
xref: ORDO:141184
is_a: DOID:0080015 ! physical disorder
is_a: DOID:255 ! hemangioma
created_by: slaulede
creation_date: 2019-01-16T15:52:05Z

[Term]
id: DOID:0080896
name: pericytoma with t(7;12)
def: "A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion. (DO)" [http://atlasgeneticsoncology.org/Tumors/Pericytomt0712ID5192.html "DO", https://pubmed.ncbi.nlm.nih.gov/30085941/ "DO"]
is_a: DOID:3316 ! perivascular tumor
created_by: mtutaj
creation_date: 2020-02-27T13:41:52Z

[Term]
id: DOID:0080897
name: solitary fibrous tumor/hemangiopericytoma
def: "A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29521591/ "DO", https://thejns.org/view/journals/j-neurosurg/130/2/article-p418.xml "DO", https://www.sciencedirect.com/science/article/pii/S221475191830183X "DO"]
xref: ICDO:8815/1
xref: ORDO:2126
is_a: DOID:264 ! hemangiopericytoma
is_a: DOID:9002958 ! Solitary Fibrous Tumors
created_by: mtutaj
creation_date: 2021-02-24T22:01:11Z

[Term]
id: DOID:0080898
name: cerebellofaciodental syndrome
def: "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27748960 "DO", https://pubmed.ncbi.nlm.nih.gov/32896090/ "DO"]
synonym: "cerebellar-facial-dental syndrome" EXACT []
synonym: "CFDS" EXACT []
xref: EFO:0009030
xref: MIM:616202
xref: ORDO:444072
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1091 ! tooth disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2021-02-24T22:05:11Z

[Term]
id: DOID:0080899
name: lung pleomorphic carcinoma
def: "A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31355240/ "DO"]
xref: NCI:C45542
is_a: DOID:3905 ! lung carcinoma
is_a: DOID:5662 ! pleomorphic carcinoma
created_by: mtutaj
creation_date: 2021-03-29T00:00:00Z

[Term]
id: DOID:0080900
name: oral rhabdomyosarcoma
def: "A rhabdomyosarcoma located in the oral cavity. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892211/ "DO"]
is_a: DOID:3247 ! rhabdomyosarcoma
is_a: DOID:8618 ! oral cavity cancer
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0080901
name: bladder sarcomatoid transitional cell carcinoma
def: "A sarcomatoid transitional cell carcinoma that is located_in the bladder. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30287139/ "DO"]
is_a: DOID:11054 ! urinary bladder cancer
is_a: DOID:4014 ! sarcomatoid transitional cell carcinoma
created_by: mtutaj
creation_date: 2021-03-29T00:00:00Z

[Term]
id: DOID:0080902
name: bladder small cell carcinoma
def: "A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29763719/ "DO"]
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:4007 ! bladder carcinoma
created_by: mtutaj
creation_date: 2021-03-29T00:00:00Z

[Term]
id: DOID:0080903
name: embryonal tumor with multilayered rosettes, C19MC-altered
alt_id: DOID:4794
def: "An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). (DO)" [https://radiopaedia.org/articles/embryonal-tumours-with-multilayered-rosettes-etmr?lang=us "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/ "DO"]
synonym: "ependymoblastoma" EXACT []
synonym: "ependymoblastomas" EXACT []
xref: NCI:C4915
is_a: DOID:0081286 ! embryonal tumor with multilayered rosettes
created_by: mtutaj
creation_date: 2021-03-29T00:00:00Z

[Term]
id: DOID:0080904
name: astroblastoma, MN1-altered
def: "An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31111274/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843525/ "DO"]
synonym: "CNS high-grade neuroepithelial tumors with MN1 alteration" EXACT []
is_a: DOID:7305 ! astroblastoma
created_by: mtutaj
creation_date: 2019-12-30T09:31:57Z

[Term]
id: DOID:0080905
name: central nervous system neuroblastoma
def: "A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29520437/ "DO"]
is_a: DOID:4439 ! central nervous system germ cell tumor
is_a: DOID:769 ! neuroblastoma
created_by: mtutaj
creation_date: 2020-10-27T16:34:12Z

[Term]
id: DOID:0080906
name: CNS neuroblastoma with FOXR2 activation
def: "A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo. (DO)" [https://link.springer.com/article/10.1007%2Fs10014-020-00370-2 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7350623/ "DO"]
synonym: "central nervous system neuroblastoma with FOXR2 activation" EXACT []
synonym: "CNS NB-FOXR2" EXACT []
synonym: "CNS neuroblastoma, FOXR2-activated" EXACT []
xref: ICDO:9500/3
is_a: DOID:0080905 ! central nervous system neuroblastoma
created_by: mtutaj
creation_date: 2021-03-29T00:00:00Z

[Term]
id: DOID:0080907
name: Cockayne syndrome A
alt_id: DOID:9007866
def: "A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. (DO)" [https://medlineplus.gov/genetics/condition/cockayne-syndrome/ "DO"]
synonym: "Cockayne syndrome, classical" EXACT []
synonym: "Cockayne syndrome type 1" EXACT []
synonym: "Cockayne syndrome type A" EXACT []
synonym: "CSA" EXACT []
synonym: "ERCC8-RELATED CONDITION" BROAD []
synonym: "group A Cockayne syndrome" EXACT []
synonym: "Type I Cockayne Syndrome" EXACT []
xref: GARD:1415
xref: MIM:216400
xref: MONDO:0019569
xref: NCI:C135725
is_a: DOID:2962 ! Cockayne syndrome
created_by: mtutaj
creation_date: 2021-04-29T19:14:01Z

[Term]
id: DOID:0080908
name: Cockayne syndrome B
alt_id: DOID:9007951
def: "A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1342/ "DO"]
synonym: "Cockayne syndrome 2" EXACT []
synonym: "Cockayne syndrome type B" EXACT []
synonym: "Cockayne syndrome type II" EXACT []
synonym: "congenital Cockayne syndrome" RELATED []
synonym: "CSB" EXACT []
synonym: "group B Cockayne syndrome" EXACT []
xref: GARD:1420
xref: MIM:133540
xref: NCI:C135726
is_a: DOID:2962 ! Cockayne syndrome
created_by: mtutaj
creation_date: 2021-04-29T19:16:48Z

[Term]
id: DOID:0080909
name: castration-resistant prostate carcinoma
alt_id: DOID:9004674
def: "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30324351/ "DO"]
synonym: "Androgen Independent Prostatic Cancer" EXACT []
synonym: "androgen-independent prostatic cancers" EXACT []
synonym: "Androgen-Independent Prostatic Neoplasm" EXACT []
synonym: "Androgen Independent Prostatic Neoplasms" EXACT []
synonym: "Androgen Insensitive Prostatic Cancer" EXACT []
synonym: "Androgen-Insensitive Prostatic Cancers" EXACT []
synonym: "Androgen-Insensitive Prostatic Neoplasm" EXACT []
synonym: "Androgen Insensitive Prostatic Neoplasms" EXACT []
synonym: "Androgen Resistant Prostatic Cancer" EXACT []
synonym: "Androgen-Resistant Prostatic Cancers" EXACT []
synonym: "Androgen-Resistant Prostatic Neoplasm" EXACT []
synonym: "Androgen Resistant Prostatic Neoplasms" EXACT []
synonym: "Castration Resistant Prostatic Cancer" EXACT []
synonym: "Castration-Resistant Prostatic Cancers" EXACT []
synonym: "Castration-Resistant Prostatic Neoplasm" EXACT []
synonym: "Castration-Resistant Prostatic Neoplasms" EXACT []
synonym: "Hormone Refractory Prostatic Cancer" EXACT []
synonym: "hormone refractory prostatic neoplasms" EXACT []
xref: MESH:D064129
xref: MONDO:0019570
xref: NCI:C130234
is_a: DOID:10286 ! prostate carcinoma
created_by: mtutaj
creation_date: 2021-04-29T19:18:28Z

[Term]
id: DOID:0080910
name: cerebrooculofacioskeletal syndrome
alt_id: DOID:9007995
def: "A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1342/ "DO"]
synonym: "CEREBRO-OCULO-FACIO-SKELETAL SYNDROME" EXACT []
synonym: "COFS" EXACT []
synonym: "COFS syndrome" EXACT []
xref: GARD:6027
xref: MIM:PS214150
xref: NCI:C3817
is_a: DOID:2962 ! Cockayne syndrome
created_by: mtutaj
creation_date: 2021-04-29T19:21:48Z

[Term]
id: DOID:0080911
name: cerebrooculofacioskeletal syndrome 1
alt_id: DOID:9003294
alt_id: MIM:214150
def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20456449/ "DO"]
synonym: "COFS1" EXACT []
synonym: "Pena-Shokeir syndrome, type II" EXACT []
xref: MESH:C562434
xref: NCI:C173085
is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome
created_by: mtutaj
creation_date: 2021-04-29T19:24:27Z

[Term]
id: DOID:0080912
name: cerebrooculofacioskeletal syndrome 2
alt_id: DOID:9007127
alt_id: MIM:610756
def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11443545/ "DO"]
synonym: "COFS2" EXACT []
xref: MESH:C565185
is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:1059 ! intellectual disability
is_a: DOID:83 ! cataract
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2021-04-29T19:25:42Z

[Term]
id: DOID:0080913
name: cerebrooculofacioskeletal syndrome 3
alt_id: DOID:9001554
alt_id: MIM:616570
def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24700531/ "DO"]
synonym: "COFS3" EXACT []
xref: MESH:C565035
is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome
created_by: mtutaj
creation_date: 2021-04-29T19:25:50Z

[Term]
id: DOID:0080914
name: cerebrooculofacioskeletal syndrome 4
alt_id: DOID:9003501
alt_id: MIM:610758
def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23623389/ "DO"]
synonym: "COFS4" EXACT []
xref: MESH:C565184
xref: NCI:C173104
is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:1059 ! intellectual disability
is_a: DOID:83 ! cataract
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2021-04-29T19:25:58Z

[Term]
id: DOID:0080915
name: histiocytic sarcoma
alt_id: DOID:8580
alt_id: DOID:9006442
def: "A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520642/ "DO"]
synonym: "histiocytic medullary reticulosis" EXACT []
synonym: "histiocytic sarcomas" EXACT []
synonym: "malignant histiocytoses" EXACT []
synonym: "malignant histiocytosis" EXACT []
synonym: "malignant midline reticulosis" EXACT []
synonym: "malignant reticulosis" EXACT []
synonym: "Stewart's granuloma" EXACT []
synonym: "true histiocytic lymphoma" EXACT []
synonym: "true histiocytic lymphomas" EXACT []
synonym: "true malignant histiocytoses" EXACT []
synonym: "true malignant histiocytosis" EXACT []
xref: EFO:1001499
xref: ICDO:9755/3
xref: MESH:D054747
xref: NCI:C128125
xref: NCI:C21886
xref: NCI:C27349
xref: NCI:C60419
xref: NCI:C7202
is_a: DOID:2570 ! malignant histiocytic disease
is_a: DOID:5621 ! histiocytic and dendritic cell cancer
created_by: mtutaj
creation_date: 2021-04-29T19:29:08Z

[Term]
id: DOID:0080916
name: erythroleukemia
alt_id: DOID:9002149
def: "An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857409/ "DO"]
synonym: "Acute Erythroblastic Leukemia" EXACT []
synonym: "acute erythroblastic leukemias" EXACT []
synonym: "acute myeloid leukemia, M6" EXACT []
synonym: "Di Guglielmo's Disease" EXACT []
synonym: "Di Guglielmo Disease" EXACT []
synonym: "Di Guglielmos Disease" EXACT []
synonym: "Erythremic Myeloses" EXACT []
synonym: "Erythremic Myelosis" EXACT []
synonym: "Erythroleukemias" EXACT []
xref: EFO:1001257
xref: EFO:1001955
xref: MESH:D004915
xref: NCI:C135722
xref: NCI:C7152
is_a: DOID:0070004 ! myeloid neoplasm
is_a: DOID:0080780 ! acute erythroid leukemia
created_by: mtutaj
creation_date: 2021-04-29T19:33:07Z

[Term]
id: DOID:0080917
name: sporadic amyotrophic lateral sclerosis
def: "An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS. (DO)" [https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/amyotrophic-lateral-sclerosis/types/sporadic-amyotrophic-lateral-sclerosis.html "DO"]
xref: EFO:0001357
xref: MONDO:0005145
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: mtutaj
creation_date: 2021-04-29T19:39:22Z

[Term]
id: DOID:0080918
name: polymicrogyria
alt_id: DOID:9004861
def: "A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). (DO)" [https://pubmed.ncbi.nlm.nih.gov/10489031/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1329/ "DO"]
synonym: "Cerebral Micropolygyria" EXACT []
synonym: "Cerebral Micropolygyrias" EXACT []
synonym: "Cerebral Polymicrogyria" EXACT []
synonym: "Cerebral Polymicrogyrias" EXACT []
synonym: "Micropolygyria" EXACT []
synonym: "Micropolygyrias" EXACT []
synonym: "Polymicrogyrias" EXACT []
xref: MESH:D065706
xref: NCI:C116936
is_a: DOID:9001684 ! Malformations of Cortical Development, Group III
created_by: mtutaj
creation_date: 2021-04-29T19:40:47Z

[Term]
id: DOID:0080919
name: unilateral focal polymicrogyria
def: "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1329/ "DO"]
xref: ORDO:268947
is_a: DOID:0080918 ! polymicrogyria
created_by: mtutaj
creation_date: 2021-04-29T19:44:13Z

[Term]
id: DOID:0080920
name: bilateral generalized polymicrogyria
def: "A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1329/ "DO"]
is_a: DOID:0080918 ! polymicrogyria
created_by: mtutaj
creation_date: 2021-04-29T19:45:47Z

[Term]
id: DOID:0080921
name: bilateral frontal polymicrogyria
def: "A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. (DO)" [https://en.wikipedia.org/wiki/Polymicrogyria#Unilateral_polymicrogyria "DO", https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria "DO"]
xref: GARD:10783
xref: ORDO:208444
is_a: DOID:0080918 ! polymicrogyria
created_by: mtutaj
creation_date: 2021-04-29T19:47:22Z

[Term]
id: DOID:0080922
name: bilateral frontoparietal polymicrogyria
alt_id: DOID:9002736
alt_id: MIM:606854
def: "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21. (DO)" [https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria/cases/32002 "DO"]
synonym: "BFPP" EXACT []
synonym: "CDCBM14A" EXACT []
synonym: "Cerebellar Ataxia with Neuronal Migration Defect" EXACT []
synonym: "complex cortical dysplasia with other brain malformations 14A, (bilateral frontoparietal)" EXACT []
xref: GARD:10784
xref: MESH:C564652
xref: NCI:C148367
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080918 ! polymicrogyria
created_by: mtutaj
creation_date: 2021-04-29T19:48:25Z

[Term]
id: DOID:0080923
name: bilateral parasagittal parieto-occipital polymicrogyria
alt_id: DOID:9004690
alt_id: MIM:612691
def: "A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10690985/ "DO", https://pubmed.ncbi.nlm.nih.gov/9005867/ "DO"]
synonym: "BTOP" EXACT []
synonym: "Polymicrogyria, Bilateral Occipital" EXACT []
synonym: "POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL" EXACT []
xref: GARD:10785
xref: MESH:C567201
xref: ORDO:208441
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080918 ! polymicrogyria
created_by: mtutaj
creation_date: 2021-04-29T19:51:05Z

[Term]
id: DOID:0080924
name: bilateral perisylvian polymicrogyria
alt_id: DOID:9003520
alt_id: MIM:300388
alt_id: MIM:615752
def: "A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24531968/ "DO"]
synonym: "bilateral perisylvian polymicrogyria with autosomal recessive inheritance" NARROW []
synonym: "BPP" EXACT []
synonym: "BPPR" NARROW []
synonym: "BPPX" EXACT []
synonym: "CBPS" EXACT []
synonym: "CDCBM14B" EXACT []
synonym: "complex cortical dysplasia with other brain malformations 14B, (bilateral perisylvian)" EXACT []
synonym: "Congenital bilateral perisylvian syndrome" EXACT []
synonym: "Perisylvian Syndrome" EXACT []
synonym: "PMGX" EXACT []
synonym: "POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE" NARROW []
synonym: "POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED" EXACT []
xref: GARD:6011
xref: MESH:C536658
xref: ORDO:98889
is_a: DOID:0080918 ! polymicrogyria
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: mtutaj
creation_date: 2021-04-29T19:56:42Z

[Term]
id: DOID:0080925
name: cytochrome P450 oxidoreductase deficiency
def: "A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1419/ "DO"]
synonym: "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency" EXACT []
synonym: "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency" EXACT []
synonym: "DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY" EXACT []
xref: GARD:12664
xref: MIM:613571
xref: NCI:C131302
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1701 ! steroid inherited metabolic disorder
created_by: mtutaj
creation_date: 2021-04-29T20:01:27Z

[Term]
id: DOID:0080926
name: 7q11.23 duplication syndrome
alt_id: DOID:9002292
alt_id: MIM:609757
def: "A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. (DO)" [https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK327268/ "DO"]
synonym: "7q11.23 microduplication syndrome" EXACT []
synonym: "chromosome 7q11.23 duplication syndrome" EXACT []
synonym: "chromosome 7q11.23 triplication syndrome" NARROW []
synonym: "Somerville-Van der Aa syndrome" NARROW []
synonym: "WBS duplication syndrome" EXACT []
synonym: "WBS triplication syndrome" NARROW []
synonym: "William-Beuren region duplication syndrome" EXACT []
synonym: "Williams-Beuren Region Duplication Syndrome" EXACT []
xref: GARD:12076
xref: MESH:C565723
xref: NCI:C165597
xref: ORDO:96121
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:1928 ! Williams-Beuren syndrome
created_by: mtutaj
creation_date: 2021-04-29T20:07:19Z

[Term]
id: DOID:0080927
name: apolipoprotein A-IV associated amyloidosis
def: "An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27262366/ "DO"]
synonym: "AApoAIV amyloidosis" EXACT []
synonym: "renal AApoAIV amyloidosis" EXACT []
xref: ORDO:439232
is_a: DOID:557 ! kidney disease
is_a: DOID:9120 ! amyloidosis
created_by: mtutaj
creation_date: 2021-04-29T20:09:58Z

[Term]
id: DOID:0080928
name: dialysis-related amyloidosis
def: "An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153266/ "DO"]
synonym: "ABeta2M amyloidosis" EXACT []
synonym: "Amyloidosis Beta2M" EXACT []
synonym: "Aβ2M amyloidosis" EXACT []
synonym: "Beta2-microglobulinic amyloidosis" EXACT []
synonym: "dialysis-related beta2-microglobulin amyloidosis" EXACT []
xref: GARD:0010563
xref: ORDO:439246
is_a: DOID:0060158 ! acquired metabolic disease
is_a: DOID:557 ! kidney disease
is_a: DOID:9120 ! amyloidosis
created_by: mtutaj
creation_date: 2021-04-29T20:11:52Z

[Term]
id: DOID:0080929
name: variant ABeta2M amyloidosis
def: "An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32392555/ "DO"]
synonym: "Autosomal dominant beta2-microglobulinic amyloidosis" EXACT []
xref: ORDO:314652
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9120 ! amyloidosis
created_by: mtutaj
creation_date: 2021-04-29T20:13:47Z

[Term]
id: DOID:0080930
name: primary localized cutaneous amyloidosis 1
alt_id: DOID:9003043
def: "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19663869/ "DO"]
synonym: "AMYLOIDOSIS, PRIMARY CUTANEOUS, 1" EXACT []
synonym: "familial primary localized cutaneous amyloidosis-1" EXACT []
synonym: "PCA1" EXACT []
synonym: "PLCA1" EXACT []
xref: MIM:105250
xref: NCI:C189282
is_a: DOID:0050639 ! primary cutaneous amyloidosis
created_by: mtutaj
creation_date: 2021-04-29T20:15:10Z

[Term]
id: DOID:0080931
name: primary localized cutaneous amyloidosis 2
alt_id: DOID:9005272
def: "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19663869/ "DO"]
synonym: "PLCA2" EXACT []
xref: MIM:613955
is_a: DOID:0050639 ! primary cutaneous amyloidosis
created_by: mtutaj
creation_date: 2021-04-29T21:28:06Z

[Term]
id: DOID:0080932
name: primary localized cutaneous amyloidosis 3
alt_id: DOID:9009134
def: "A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25866143/ "DO"]
synonym: "ACD" EXACT []
synonym: "amyloidosis cutis dyschromica" EXACT []
synonym: "PLCA3" EXACT []
xref: MIM:617920
is_a: DOID:0050639 ! primary cutaneous amyloidosis
created_by: mtutaj
creation_date: 2021-04-29T21:29:30Z

[Term]
id: DOID:0080933
name: immunoglobulin light chain amyloidosis
alt_id: DOID:9005869
def: "An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26771835/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841939/ "DO"]
synonym: "AL amyloidosis" EXACT []
synonym: "Light chain amyloidosis" EXACT []
synonym: "Primary AL amyloidosis" EXACT []
synonym: "primary amyloid" EXACT []
synonym: "Primary Amyloidosis" EXACT []
synonym: "Primary systemic AL amyloidosis" EXACT []
synonym: "Primary Systemic Amyloidosis" EXACT []
synonym: "systemic AL amyloidsis" EXACT []
xref: ICD10CM:E85.81
xref: MESH:D000075363
xref: MONDO:0019438
xref: NCI:C158963
is_a: DOID:114 ! heart disease
is_a: DOID:409 ! liver disease
is_a: DOID:557 ! kidney disease
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9007454 ! amyloidoma
is_a: DOID:9120 ! amyloidosis
created_by: mtutaj
creation_date: 2021-04-29T21:31:04Z

[Term]
id: DOID:0080934
name: immunoglobulin heavy chain amyloidosis
def: "An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32703752/ "DO"]
synonym: "AH amyloidosis" EXACT []
synonym: "Amyloidosis derived from immunoglobulin heavy chain" EXACT []
synonym: "Heavy chain amyloidosis" EXACT []
synonym: "Ig heavy-chainâ??associated amyloidosis" EXACT []
xref: ORDO:442582
is_a: DOID:557 ! kidney disease
is_a: DOID:9120 ! amyloidosis
created_by: mtutaj
creation_date: 2021-04-29T21:34:07Z

[Term]
id: DOID:0080935
name: immunoglobulin heavy-and-light chain
def: "An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23302715/ "DO"]
synonym: "AH/AL amyloidosis" EXACT []
synonym: "Ig heavy-and-light-chain amyloidosis" EXACT []
is_a: DOID:0060158 ! acquired metabolic disease
is_a: DOID:9120 ! amyloidosis
created_by: mtutaj
creation_date: 2021-04-29T21:35:58Z

[Term]
id: DOID:0080936
name: serum amyloid A amyloidosis
def: "An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. (DO)" [https://my.clevelandclinic.org/health/diseases/17854-amyloidosis-aa "DO"]
synonym: "AA amyloidosis" EXACT []
synonym: "Apo serum amyloid A amyloidosis" EXACT []
synonym: "inflammation AA amyloidosis" EXACT []
synonym: "secondary amyloidosis" EXACT []
xref: ICD10CM:E85.3
is_a: DOID:0060158 ! acquired metabolic disease
is_a: DOID:2529 ! splenic disease
is_a: DOID:409 ! liver disease
is_a: DOID:557 ! kidney disease
is_a: DOID:9120 ! amyloidosis
created_by: mtutaj
creation_date: 2021-04-29T21:36:56Z

[Term]
id: DOID:0080937
name: wild-type amyloidosis
def: "An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. (DO)" [https://my.clevelandclinic.org/health/diseases/17855-amyloidosis-attr "DO"]
synonym: "Age related amyloidosis" EXACT []
synonym: "ATTRwt amyloidosis" EXACT []
synonym: "Old age amyloidosis" EXACT []
synonym: "senile systemic amyloidosis" EXACT []
synonym: "wild-type ATTR amyloidosis" EXACT []
synonym: "wild-type transthyretin cardiac amyloidosis" EXACT []
is_a: DOID:0060158 ! acquired metabolic disease
is_a: DOID:114 ! heart disease
is_a: DOID:9120 ! amyloidosis
created_by: mtutaj
creation_date: 2021-04-29T21:38:35Z

[Term]
id: DOID:0080938
name: nonobstructive coronary artery disease
def: "A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25369489/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536284/ "DO"]
synonym: "non-CAD" EXACT []
synonym: "non-obstructive coronary artery disease" EXACT []
xref: EFO:1001483
is_a: DOID:3393 ! coronary artery disease
created_by: mtutaj
creation_date: 2021-06-03T18:11:48Z

[Term]
id: DOID:0080939
name: hereditary angioedema type I
alt_id: DOID:9003826
def: "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11161971/ "DO"]
synonym: "deficiency of C1 esterase inhibitor" EXACT []
synonym: "HAE1" EXACT []
synonym: "HAE2" RELATED []
synonym: "hereditary angioedema, autosomal recessive" EXACT []
synonym: "hereditary angioedema type 1" EXACT []
synonym: "hereditary angioedema type II" RELATED []
synonym: "hereditary angioedema types I and II" BROAD []
synonym: "HEREDITARY ANGIOEDEMA WITH C1INH DEFICIENCY" EXACT []
synonym: "hereditary C1 esterase inhibitor deficiency - dysfunctional factor" EXACT []
xref: MESH:D056829
xref: MIM:106100
xref: MONDO:0033946
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060002 ! C1 inhibitor deficiency
is_a: DOID:14735 ! hereditary angioedema
created_by: mtutaj
creation_date: 2021-06-03T18:13:17Z

[Term]
id: DOID:0080940
name: hereditary angioedema type III
alt_id: DOID:9004475
alt_id: MIM:610618
def: "A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16638441/ "DO"]
synonym: "estrogen related HAE" EXACT []
synonym: "Estrogen Sensitive HAE" EXACT []
synonym: "Estrogen Sensitive Hereditary Angioedema" EXACT []
synonym: "Estrogen-Sensitive Hereditary Angioedemas" EXACT []
synonym: "HAE3" EXACT []
synonym: "HAE III" EXACT []
synonym: "HAE with normal C1 inhibitor concentration and function" EXACT []
synonym: "hereditary angioedema 3" EXACT []
synonym: "hereditary angioedema with normal C1 inhibitor activity" EXACT []
synonym: "hereditary angioneurotic edema with normal C1 inhibitor concentration and function" EXACT []
xref: MESH:D056828
is_a: DOID:14735 ! hereditary angioedema
created_by: mtutaj
creation_date: 2021-06-03T18:17:35Z

[Term]
id: DOID:0080941
name: acquired angioedema
alt_id: DOID:9003616
alt_id: DOID:9005537
alt_id: MIM:300909
def: "An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK430889/ "DO"]
synonym: "AEACEI" EXACT []
synonym: "Angioedema Induced by ACE Inhibitors" EXACT []
synonym: "angioedema induced by ace inhibitors, susceptibility to" RELATED []
xref: MESH:C538173
is_a: DOID:1558 ! angioedema
created_by: mtutaj
creation_date: 2021-06-03T18:19:33Z

[Term]
id: DOID:0080942
name: anauxetic dysplasia
alt_id: DOID:9009210
def: "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK84550/ "DO"]
synonym: "anauxetic dysplasias" EXACT []
xref: MIM:PS607095
xref: ORDO:93347
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
is_a: DOID:9007661 ! Dwarfism
created_by: mtutaj
creation_date: 2021-06-03T17:53:20Z

[Term]
id: DOID:0080943
name: 46,XX sex reversal 5
alt_id: DOID:9009108
def: "A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29478779/ "DO"]
synonym: "SRXX5" EXACT []
xref: MIM:618901
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111760 ! 46,XX sex reversal
created_by: mtutaj
creation_date: 2021-06-03T18:26:15Z

[Term]
id: DOID:0080944
name: familial Behcet-like autoinflammatory syndrome 1
alt_id: DOID:9003185
def: "A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26642243/ "DO"]
synonym: "A20 haploinsufficiency" EXACT []
synonym: "AIFBL1" EXACT []
synonym: "AISBL" EXACT []
synonym: "TNFAIP3-RELATED CONDITION" EXACT []
xref: EFO:0020034
xref: MIM:616744
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9005986 ! Familial Behcet-Like Autoinflammatory Syndrome
created_by: mtutaj
creation_date: 2021-06-03T18:29:30Z

[Term]
id: DOID:0080945
name: abdominal obesity-metabolic syndrome 4
alt_id: DOID:9002105
def: "An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31358993/ "DO"]
synonym: "AOMS4" EXACT []
xref: MIM:618620
is_a: DOID:0060611 ! abdominal obesity-metabolic syndrome
created_by: mtutaj
creation_date: 2021-06-03T18:33:57Z

[Term]
id: DOID:0080946
name: retinal dystrophy with leukodystrophy
alt_id: DOID:9003874
def: "A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27799409/ "DO"]
synonym: "ACBD5 deficiency" EXACT []
synonym: "RDLKD" EXACT []
xref: EFO:0010738
xref: MIM:618863
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:5679 ! retinal disease
is_a: DOID:906 ! peroxisomal disease
created_by: slaulede
creation_date: 2020-08-14T13:34:34Z

[Term]
id: DOID:0080947
name: acute flaccid myelitis
def: "A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909727/ "DO"]
synonym: "acute flaccid paralysis" EXACT []
xref: MESH:C000629404
is_a: DOID:322 ! myelitis
created_by: mtutaj
creation_date: 2021-06-03T18:41:54Z

[Term]
id: DOID:0080948
name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome
alt_id: DOID:9003161
def: "A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31585109/ "DO"]
synonym: "ACOGS" EXACT []
xref: MIM:618929
is_a: DOID:114 ! heart disease
is_a: DOID:15 ! reproductive system disease
is_a: DOID:225 ! syndrome
is_a: DOID:5614 ! eye disease
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
created_by: slaulede
creation_date: 2020-09-03T17:00:13Z

[Term]
id: DOID:0080949
name: alcoholic ketoacidosis
def: "A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy. (DO)" [https://medlineplus.gov/ency/article/000323.htm "DO"]
is_a: DOID:0050758 ! metabolic acidosis
created_by: mtutaj
creation_date: 2021-06-03T18:47:13Z

[Term]
id: DOID:0080950
name: alopecia-mental retardation syndrome 4
alt_id: DOID:9008723
def: "An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30723320/ "DO"]
synonym: "alopecia-intellectual disability syndrome 4" EXACT []
synonym: "APMR4" EXACT []
xref: MIM:618840
xref: MONDO:0030009
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080627 ! alopecia-mental retardation syndrome
created_by: mtutaj
creation_date: 2020-04-08T12:55:10Z

[Term]
id: DOID:0080951
name: alopecia-mental retardation syndrome 3
alt_id: DOID:9005500
def: "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17451405/ "DO"]
synonym: "alopecia-intellectual disability syndrome 3" EXACT []
synonym: "APMR3" EXACT []
xref: MIM:613930
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080627 ! alopecia-mental retardation syndrome
created_by: mtutaj
creation_date: 2021-06-03T18:52:32Z

[Term]
id: DOID:0080952
name: AMED syndrome
alt_id: DOID:9000959
def: "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33355142/ "DO"]
synonym: "AMEDS" EXACT []
synonym: "AMED SYNDROME, DIGENIC" EXACT []
synonym: "BMFS7" EXACT []
synonym: "BONE MARROW FAILURE SYNDROME 7, DIGENIC" EXACT []
xref: MIM:619151
xref: NCI:C185246
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050908 ! myelodysplastic syndrome
is_a: DOID:0080578 ! digenic disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2021-02-09T13:44:23Z

[Term]
id: DOID:0080953
name: amelogenesis imperfecta type 1J
alt_id: DOID:9002499
def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27843125/ "DO"]
synonym: "AI1J" EXACT []
synonym: "Amelogenesis Imperfecta Type IJ" EXACT []
xref: EFO:0009302
xref: MIM:617297
xref: MONDO:0015008
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2187 ! amelogenesis imperfecta
created_by: mtutaj
creation_date: 2021-06-03T19:00:06Z

[Term]
id: DOID:0080954
name: arthrogryposis multiplex congenita
alt_id: DOID:0110631
alt_id: DOID:9000338
alt_id: MESH:C564985
def: "A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/arthrogryposis "DO", https://www.merckmanuals.com/professional/pediatrics/congenital-craniofacial-and-musculoskeletal-abnormalities/arthrogryposis-multiplex-congenita "DO"]
synonym: "amyoplasia congenita" EXACT []
synonym: "arthrogryposes" EXACT []
synonym: "Arthrogryposis" EXACT []
synonym: "arthrogryposis due to muscular dystrophy" RELATED []
synonym: "arthrogryposis multiplex congenita (AMC)" EXACT []
synonym: "Congenital Arthromyodysplasia" EXACT []
synonym: "Congenital Arthromyodysplasias" EXACT []
synonym: "Congenital Multiple Arthrogryposes" EXACT []
synonym: "Congenital Multiple Arthrogryposis" EXACT []
synonym: "congenital muscular dystrophy producing arthrogryposis" RELATED []
synonym: "Fibrous Ankylosis of Multiple Joints" EXACT []
synonym: "Guerin Stern Syndrome" EXACT []
synonym: "Guérin Stern Syndrome" EXACT []
synonym: "muscular dystrophy and arthrogryposis" EXACT []
synonym: "Myodystrophia Fetalis Deformans" EXACT []
synonym: "Otto syndrome" EXACT []
synonym: "Rocher Sheldon syndrome" EXACT []
synonym: "Rossi syndrome" EXACT []
xref: EFO:0003857
xref: GARD:777
xref: ICD10CM:M62.8
xref: MESH:D001176
xref: MIM:PS617468
xref: NCI:C84572
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080000 ! muscular disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:381 ! arthropathy
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
created_by: mtutaj
creation_date: 2021-06-03T19:02:48Z

[Term]
id: DOID:0080956
name: childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered
def: "A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6772 "DO"]
xref: NCI:C6772
is_a: DOID:7841 ! childhood embryonal tumor with multilayered rosettes, C19MC-altered
created_by: mtutaj
creation_date: 2021-06-03T19:11:00Z

[Term]
id: DOID:0080957
name: primary hypoalphalipoproteinemia 1
alt_id: DOID:9001933
alt_id: MIM:604091
def: "A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. (DO)" [https://medlineplus.gov/genetics/condition/familial-hdl-deficiency/ "DO"]
synonym: "ABCA1 POLYMORPHISM" RELATED []
synonym: "ABCA1-RELATED DISORDER" BROAD []
synonym: "Familial HDL Deficiency" EXACT []
synonym: "familial HDL lipoprotein deficiency disease" EXACT []
synonym: "familial high density lipoprotein deficiency" EXACT []
synonym: "familial high density lipoprotein deficiency disease" EXACT []
synonym: "HDL deficiency, type 2" EXACT []
synonym: "low serum HDL cholesterol" EXACT []
synonym: "primary hypoalphalipoproteinemia" EXACT []
synonym: "primary hypoalphalipoproteinemias" EXACT []
xref: GARD:2872
xref: MESH:C538394
is_a: DOID:9002117 ! Hypoalphalipoproteinemias
created_by: mtutaj
creation_date: 2021-06-03T19:13:54Z

[Term]
id: DOID:0080958
name: primary hypoalphalipoproteinemia 2
alt_id: DOID:9006651
alt_id: MIM:619836
def: "A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29396262/ "DO"]
synonym: "absence of apolipoprotein a-1, due to deletion of apoa1/apoc3/apoa4 gene complex" NARROW []
synonym: "APOA1 Deficiency" EXACT []
synonym: "APOA1-RELATED CONDITION" EXACT []
synonym: "APOLIPOPROTEIN A-I (BALTIMORE)" RELATED []
synonym: "apolipoprotein A-I deficiency" EXACT []
synonym: "CORNEAL CLOUDING DUE TO APOLIPOPROTEIN A-I DEFICIENCY" EXACT []
synonym: "deficiency of apolipoprotein A-I" EXACT []
synonym: "primary hypoalphalipoproteinemia 2, autosomal dominant" NARROW []
synonym: "primary hypoalphalipoproteinemia 2, intermediate" NARROW []
xref: GARD:758
xref: MIM:618463
xref: ORDO:425
is_a: DOID:0111370 ! apolipoprotein C-III deficiency
is_a: DOID:9002117 ! Hypoalphalipoproteinemias
created_by: mtutaj
creation_date: 2021-06-03T20:12:56Z

[Term]
id: DOID:0080959
name: arrhythmogenic right ventricular dysplasia 14
alt_id: DOID:9005146
def: "An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28280076/ "DO"]
synonym: "arrhythmogenic right ventricular cardiomyopathy 14" EXACT []
synonym: "ARVC14" EXACT []
synonym: "ARVD14" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 14" EXACT []
xref: MIM:618920
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy
is_a: DOID:0050736 ! autosomal dominant disease
created_by: mtutaj
creation_date: 2020-06-24T12:17:06Z

[Term]
id: DOID:0080960
name: amelogenesis imperfecta type 2A6
alt_id: DOID:9006208
def: "An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3150442/ "DO"]
synonym: "AI2A6" EXACT []
synonym: "Amelogenesis Imperfecta Hypomaturation Type, 2A6" EXACT []
synonym: "Amelogenesis Imperfecta, Hypomaturation Type, IIA6" EXACT []
xref: MIM:617217
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type
created_by: mtutaj
creation_date: 2021-06-03T20:25:39Z

[Term]
id: DOID:0080962
name: anauxetic dysplasia 2
alt_id: DOID:9005915
def: "A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28067412/ "DO"]
synonym: "ANXD2" EXACT []
synonym: "POP1-RELATED CONDITION" EXACT []
xref: MIM:617396
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080942 ! anauxetic dysplasia
created_by: rgd
creation_date: 2017-06-09T00:00:00Z

[Term]
id: DOID:0080963
name: anauxetic dysplasia 3
alt_id: DOID:9000259
def: "A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31250547/ "DO"]
synonym: "ANXD3" EXACT []
xref: MIM:618853
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080942 ! anauxetic dysplasia
created_by: mtutaj
creation_date: 2020-04-24T08:34:54Z

[Term]
id: DOID:0080964
name: intracranial berry aneurysm 1
alt_id: DOID:9007437
alt_id: MIM:105800
def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"]
synonym: "ANIB1" EXACT []
xref: MESH:C566284
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060228 ! intracranial berry aneurysm
is_a: DOID:9000438 ! Subarachnoid Hemorrhage
created_by: mtutaj
creation_date: 2021-06-03T20:32:16Z

[Term]
id: DOID:0080965
name: intracranial berry aneurysm 2
alt_id: DOID:9003407
def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14872410/ "DO"]
synonym: "ANIB2" EXACT []
xref: MESH:C536360
xref: MIM:608542
xref: MONDO:0012053
is_a: DOID:0060228 ! intracranial berry aneurysm
created_by: mtutaj
creation_date: 2021-06-03T20:33:51Z

[Term]
id: DOID:0080966
name: intracranial berry aneurysm 3
alt_id: DOID:9008738
alt_id: MIM:609122
def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"]
synonym: "ANIB3" EXACT []
xref: MESH:C563792
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060228 ! intracranial berry aneurysm
created_by: mtutaj
creation_date: 2021-06-03T20:35:37Z

[Term]
id: DOID:0080967
name: intracranial berry aneurysm 4
alt_id: DOID:9008074
alt_id: MIM:610213
def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"]
synonym: "ANIB4" EXACT []
xref: MESH:C565700
is_a: DOID:0060228 ! intracranial berry aneurysm
is_a: DOID:9000438 ! Subarachnoid Hemorrhage
created_by: mtutaj
creation_date: 2021-06-03T20:37:19Z

[Term]
id: DOID:0080968
name: intracranial berry aneurysm 5
alt_id: DOID:9002709
alt_id: MIM:300870
def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"]
synonym: "ANIB5" EXACT []
xref: MESH:C563670
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0060228 ! intracranial berry aneurysm
created_by: mtutaj
creation_date: 2021-06-03T20:39:18Z

[Term]
id: DOID:0080969
name: intracranial berry aneurysm 6
alt_id: DOID:9005481
alt_id: MIM:611892
def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"]
synonym: "ANIB6" EXACT []
xref: MESH:C567500
is_a: DOID:0060228 ! intracranial berry aneurysm
is_a: DOID:9000438 ! Subarachnoid Hemorrhage
created_by: mtutaj
creation_date: 2021-06-03T20:41:09Z

[Term]
id: DOID:0080970
name: intracranial berry aneurysm 7
alt_id: DOID:9007029
alt_id: MIM:612161
def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"]
synonym: "ANIB7" EXACT []
xref: MESH:C567406
is_a: DOID:0060228 ! intracranial berry aneurysm
is_a: DOID:9000438 ! Subarachnoid Hemorrhage
created_by: mtutaj
creation_date: 2021-06-03T20:43:14Z

[Term]
id: DOID:0080971
name: intracranial berry aneurysm 8
alt_id: DOID:9005195
alt_id: MIM:612162
def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"]
synonym: "ANIB8" EXACT []
xref: MESH:C567405
is_a: DOID:0060228 ! intracranial berry aneurysm
is_a: DOID:9000438 ! Subarachnoid Hemorrhage
created_by: mtutaj
creation_date: 2021-06-03T20:45:01Z

[Term]
id: DOID:0080972
name: intracranial berry aneurysm 9
alt_id: DOID:9006568
alt_id: MIM:612586
def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"]
synonym: "Anib9" EXACT []
xref: MESH:C567238
is_a: DOID:0060228 ! intracranial berry aneurysm
is_a: DOID:9000438 ! Subarachnoid Hemorrhage
created_by: mtutaj
creation_date: 2021-06-03T20:47:03Z

[Term]
id: DOID:0080973
name: intracranial berry aneurysm 10
alt_id: DOID:9008930
alt_id: MIM:612587
def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"]
synonym: "ANIB10" EXACT []
xref: MESH:C567237
is_a: DOID:0060228 ! intracranial berry aneurysm
created_by: mtutaj
creation_date: 2021-06-03T20:48:55Z

[Term]
id: DOID:0080974
name: intracranial berry aneurysm 11
alt_id: DOID:9000089
def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"]
synonym: "ANIB11" EXACT []
xref: MIM:614252
is_a: DOID:0060228 ! intracranial berry aneurysm
created_by: mtutaj
creation_date: 2021-06-03T20:51:40Z

[Term]
id: DOID:0080975
name: intracranial berry aneurysm 12
alt_id: DOID:9001608
def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"]
synonym: "ANIB12" EXACT []
xref: MIM:618734
is_a: DOID:0060228 ! intracranial berry aneurysm
created_by: mtutaj
creation_date: 2020-01-13T11:12:27Z

[Term]
id: DOID:0080976
name: acute myeloid leukemia with BCR-ABL1
def: "An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27297971/ "DO"]
synonym: "Acute myeleoid leukemia with BCR-ABL1" EXACT []
xref: ICDO:9912/3
xref: NCI:C129785
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2021-06-03T20:55:21Z

[Term]
id: DOID:0080977
name: aortic valve disease 3
alt_id: DOID:9004010
def: "A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30455415/ "DO"]
synonym: "AOVD3" EXACT []
synonym: "ROBO4-RELATED CONDITION" EXACT []
xref: MIM:618496
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080332 ! bicuspid aortic valve disease
is_a: DOID:1682 ! congenital heart disease
created_by: mtutaj
creation_date: 2019-07-15T08:40:09Z

[Term]
id: DOID:0080978
name: arthrogryposis multiplex congenita-1
alt_id: DOID:9002454
def: "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28318499/ "DO"]
synonym: "AMC1" EXACT []
synonym: "AMCNMY" EXACT []
synonym: "LGI4-RELATED CONDITION" EXACT []
synonym: "neurogenic arthrogryposis multiplex congenita 1, with myelin defect" EXACT []
synonym: "neurogenic arthrogryposis multiplex congenita, with myelin defect" EXACT []
xref: MIM:617468
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
created_by: mtutaj
creation_date: 2021-06-03T20:59:30Z

[Term]
id: DOID:0080979
name: arthrogryposis multiplex congenita-3
alt_id: DOID:9000909
def: "An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27782104/ "DO"]
synonym: "AMC3" EXACT []
synonym: "AMCM" EXACT []
synonym: "Arthrogryposis Multiplex Congenita 3, Myogenic Type" EXACT []
synonym: "arthrogryposis multiplex congenita, myogenic type" EXACT []
xref: MIM:618484
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
created_by: slaulede
creation_date: 2019-08-13T13:50:03Z

[Term]
id: DOID:0080980
name: arthrogryposis multiplex congenita-4
alt_id: DOID:9008459
def: "An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31960134/ "DO"]
synonym: "AMC4" EXACT []
synonym: "AMCNACC" EXACT []
synonym: "Neurogenic Arthrogryposis Multiplex Congenita 4 with Agenesis of the Corpus Callosum" EXACT []
synonym: "neurogenic arthrogryposis multiplex congenita with agenesis of the corpus callosum" EXACT []
synonym: "Zain syndrome" EXACT []
xref: MIM:618766
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
created_by: slaulede
creation_date: 2020-03-12T16:39:23Z

[Term]
id: DOID:0080981
name: arthrogryposis multiplex congenita-5
alt_id: DOID:9008886
def: "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29053766/ "DO"]
synonym: "AMC5" EXACT []
xref: MIM:618947
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
created_by: mtutaj
creation_date: 2020-08-03T12:45:12Z

[Term]
id: DOID:0080982
name: X-linked mental retardation-hypotonic facies syndrome-1
alt_id: DOID:9005524
alt_id: MIM:309580
def: "A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15508018/ "DO"]
synonym: "ATRX-RELATED DISORDER" BROAD []
synonym: "Carpenter-Waziri syndrome" EXACT []
synonym: "Chudley-Lowry-Hoar syndrome" EXACT []
synonym: "Chudley-Lowry syndrome" EXACT []
synonym: "Chudley mental retardation syndrome" EXACT []
synonym: "Chudley syndrome 1" EXACT []
synonym: "Holmes-Gang syndrome" EXACT []
synonym: "MRXHF1" EXACT []
synonym: "SFM1" EXACT []
synonym: "SFMS" EXACT []
synonym: "Smith-Fineman-Myers syndrome 1" EXACT []
synonym: "X-linked hypogonadism gynecomastia mental retardation" EXACT []
synonym: "X-linked intellectual disability-hypotonic facies syndrome" EXACT []
synonym: "X-Linked Mental Retardation-Hypotonic Facies Syndrome" EXACT []
synonym: "XLMR-hypotonic facies syndrome" EXACT []
xref: MESH:C537457
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:1924 ! hypogonadism
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008681 ! Deafness
created_by: mtutaj
creation_date: 2021-06-03T21:19:04Z

[Term]
id: DOID:0080984
name: X-linked intellectual developmental disorder 109
alt_id: DOID:9002187
def: "A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21739600/ "DO"]
synonym: "fragile site on chromosome Xq28" EXACT []
synonym: "Fragile XE syndrome" EXACT []
synonym: "FRAXE mental retardation syndrome" EXACT []
synonym: "FRAXE syndrome" EXACT []
synonym: "FRAXE syndromes" EXACT []
synonym: "MRX109" EXACT []
synonym: "XLID109" EXACT []
synonym: "X-linked mental retardation 109" EXACT []
synonym: "X-linked mental retardation associated with fragile site FRAXE" EXACT []
xref: GARD:2378
xref: MIM:309548
xref: ORDO:100973
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:14261 ! fragile X syndrome
created_by: mtutaj
creation_date: 2021-04-15T10:43:24Z

[Term]
id: DOID:0080985
name: syndromic X-linked intellectual disorder Lujan-Fryns-type
alt_id: DOID:9001908
alt_id: MIM:309520
def: "A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype. (DO)" [https://medlineplus.gov/genetics/condition/lujan-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1676/ "DO"]
synonym: "Lujan-Fryns syndrome" EXACT []
synonym: "Lujan syndrome" EXACT []
synonym: "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies" EXACT []
synonym: "MED12-RELATED INTELLECTUAL DISABILITY SYNDROME" BROAD []
synonym: "MRXSLF" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Lujan-Fryns type" EXACT []
synonym: "X-Linked Intellectual Deficit with Marfanoid Habitus" EXACT []
synonym: "X-linked mental retardation with marfanoid habitus" EXACT []
synonym: "X-linked mental retardation with marfanoid habitus 1" EXACT []
synonym: "X-linked mental retardation with marfanoid habitus syndrome" EXACT []
synonym: "XLMR with Marfanoid Features" EXACT []
xref: GARD:3307
xref: MESH:C537724
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:14323 ! Marfan syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2021-06-03T21:27:14Z

[Term]
id: DOID:0080986
name: Ehlers-Danlos syndrome periodontal type 1
alt_id: DOID:9004784
alt_id: MIM:130080
def: "An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27745832/ "DO"]
synonym: "EDS8" EXACT []
synonym: "EDSPD1" EXACT []
synonym: "EDS VIII" EXACT []
synonym: "Ehlers-Danlos Syndrome, Periodontitis Type" EXACT []
synonym: "Ehlers-Danlos Syndrome, Periodontosis Type" EXACT []
synonym: "Ehlers-Danlos Syndrome Type 8" EXACT []
synonym: "Ehlers-Danlos Syndrome, Type VIII" EXACT []
xref: MESH:C562626
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome
is_a: DOID:824 ! periodontitis
created_by: mtutaj
creation_date: 2021-06-03T21:30:50Z

[Term]
id: DOID:0080987
name: Ehlers-Danlos syndrome periodontal type 2
alt_id: DOID:9002437
def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27745832/ "DO"]
synonym: "EDSPD2" EXACT []
xref: GARD:12474
xref: MIM:617174
xref: ORDO:75392
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome
is_a: DOID:824 ! periodontitis
created_by: mtutaj
creation_date: 2021-06-03T21:33:13Z

[Term]
id: DOID:0080988
name: pretibial dystrophic epidermolysis bullosa
alt_id: DOID:9001453
alt_id: MIM:131850
def: "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7738360/ "DO"]
synonym: "Epidermolysis Bullosa Dystrophica, Pretibial" EXACT []
synonym: "pretibial DEB" EXACT []
synonym: "Pretibial Epidermolysis Bullosa" EXACT []
synonym: "pretibial epidermolysis bullosa, autosomal recessive" NARROW []
xref: GARD:2155
xref: MESH:C535494
xref: ORDO:79410
is_a: DOID:4959 ! epidermolysis bullosa dystrophica
created_by: mtutaj
creation_date: 2021-06-03T21:35:49Z

[Term]
id: DOID:0080990
name: King Denborough syndrome
alt_id: DOID:9003967
alt_id: MIM:619542
def: "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1146/ "DO"]
synonym: "Anesthetic-induced malignant hyperpyrexia in children" EXACT []
synonym: "King syndrome" EXACT []
xref: EFO:0009071
xref: GARD:8433
xref: MESH:C536883
xref: ORDO:99741
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:423 ! myopathy
is_a: DOID:8545 ! malignant hyperthermia
created_by: mtutaj
creation_date: 2021-06-08T15:36:30Z

[Term]
id: DOID:0080991
name: congenital myopathy 1B
alt_id: DOID:9004586
def: "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11731287/ "DO"]
synonym: "CMYO1B" EXACT []
synonym: "CMYP1B" EXACT []
synonym: "congenital myopathy 1B, autosomal recessive" EXACT []
synonym: "minicore disease" EXACT []
synonym: "minicore myopathy" EXACT []
synonym: "minicore myopathy with external ophthalmoplegia" EXACT []
synonym: "Multicore Disease" EXACT []
synonym: "Multicore Myopathy" EXACT []
synonym: "Multicore Myopathy With External Ophthalmoplegia" EXACT []
synonym: "multi-minicore disease" EXACT []
synonym: "multiminicore disease" EXACT []
synonym: "multiminicore disease with external ophthalmoplegia" EXACT []
synonym: "multiminicore myopathy" EXACT []
xref: GARD:10316
xref: MESH:C564969
xref: MIM:255320
xref: MONDO:0009712
xref: NCI:C150608
xref: ORDO:598
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:422 ! congenital structural myopathy
is_a: DOID:539 ! ophthalmoplegia
created_by: mtutaj
creation_date: 2021-06-08T15:40:18Z

[Term]
id: DOID:0080992
name: rhabdomyolysis-myalgia syndrome
def: "A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667763/ "DO"]
is_a: DOID:423 ! myopathy
created_by: mtutaj
creation_date: 2021-06-08T15:44:31Z

[Term]
id: DOID:0080994
name: autoimmune epilepsy
def: "An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27112680/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694338/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7541993/ "DO"]
is_a: DOID:0060004 ! autoimmune disease of central nervous system
is_a: DOID:1826 ! epilepsy
created_by: mtutaj
creation_date: 2021-07-29T12:41:46Z

[Term]
id: DOID:0080995
name: tuberculous encephalopathy
def: "A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state. (DO)" [https://radiopaedia.org/articles/tuberculous-encephalopathy?lang=us "DO"]
is_a: DOID:399 ! tuberculosis
created_by: mtutaj
creation_date: 2021-07-29T12:43:51Z

[Term]
id: DOID:0080996
name: diffuse large B-cell lymphoma activated B-cell type
def: "A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. (DO)" [https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36081 "DO"]
synonym: "DLBCL ABC type" EXACT []
xref: NCI:C36081
is_a: DOID:0050745 ! diffuse large B-cell lymphoma
created_by: mtutaj
creation_date: 2021-07-29T12:46:08Z

[Term]
id: DOID:0080997
name: diffuse large B-cell lymphoma germinal center B-cell type
def: "A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. (DO)" [https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36080 "DO"]
xref: NCI:C36080
is_a: DOID:0050745 ! diffuse large B-cell lymphoma
created_by: mtutaj
creation_date: 2021-07-29T12:47:22Z

[Term]
id: DOID:0080998
name: acute necrotizing pancreatitis
alt_id: DOID:9006745
def: "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28381378/ "DO"]
synonym: "necrotizing pancreatitis" EXACT []
xref: MESH:D019283
is_a: DOID:2913 ! acute pancreatitis
created_by: mtutaj
creation_date: 2021-07-29T12:48:29Z

[Term]
id: DOID:0080999
name: acute hemorrhagic pancreatitis
alt_id: DOID:9000500
def: "An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5400340/ "DO"]
synonym: "Acute Haemorrhagic Pancreatitis" EXACT []
synonym: "Hemorrhagic Pancreatitis" EXACT []
xref: MESH:D000081032
is_a: DOID:2913 ! acute pancreatitis
created_by: mtutaj
creation_date: 2021-07-29T12:53:52Z

[Term]
id: DOID:0081000
name: Cowden syndrome 4
alt_id: DOID:9000532
def: "A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21177507/ "DO"]
synonym: "CWS4" EXACT []
xref: MIM:615107
is_a: DOID:6457 ! Cowden syndrome
created_by: mtutaj
creation_date: 2021-07-29T12:56:24Z

[Term]
id: DOID:0081001
name: Cowden syndrome 5
alt_id: DOID:9002318
def: "A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23246288/ "DO"]
synonym: "Cowden disease 5" EXACT []
synonym: "CWS5" EXACT []
xref: MIM:615108
is_a: DOID:6457 ! Cowden syndrome
created_by: mtutaj
creation_date: 2021-07-29T12:59:14Z

[Term]
id: DOID:0081002
name: Cowden syndrome 6
alt_id: DOID:9002136
def: "A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23246288/ "DO"]
synonym: "Cowden disease 6" EXACT []
synonym: "CWS6" EXACT []
xref: MIM:615109
is_a: DOID:6457 ! Cowden syndrome
created_by: mtutaj
creation_date: 2021-07-29T13:01:05Z

[Term]
id: DOID:0081003
name: Cowden syndrome 7
alt_id: DOID:9001093
def: "A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26522472/ "DO"]
synonym: "CWS7" EXACT []
xref: MIM:616858
is_a: DOID:6457 ! Cowden syndrome
created_by: mtutaj
creation_date: 2021-07-29T13:02:50Z

[Term]
id: DOID:0081004
name: high-grade B-cell lymphoma double-hit/triple-hit
def: "A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29475959/ "DO"]
synonym: "HGBL-DH/TH" EXACT []
synonym: "High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements" EXACT []
xref: MONDO:0850426
xref: NCI:C125904
is_a: DOID:0081452 ! large B-cell lymphoma
created_by: mtutaj
creation_date: 2021-07-29T13:05:05Z

[Term]
id: DOID:0081005
name: parsley allergy
def: "A vegetable allergy triggered by parsley (Petroselinum). (DO)" [https://pubmed.ncbi.nlm.nih.gov/25648063/ "DO"]
is_a: DOID:0070334 ! vegetable allergy
created_by: mtutaj
creation_date: 2021-08-21T18:39:24Z

[Term]
id: DOID:0081006
name: dill allergy
def: "A food allergy triggered by dill (Anethum graveolens). (DO)" [https://pubmed.ncbi.nlm.nih.gov/10831013/ "DO"]
is_a: DOID:0070334 ! vegetable allergy
created_by: mtutaj
creation_date: 2021-08-21T18:40:51Z

[Term]
id: DOID:0081007
name: RNASET2-deficient cystic leukoencephalopathy
alt_id: DOID:9000690
alt_id: MIM:612951
def: "A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. (DO)" [https://medlineplus.gov/genetics/condition/rnase-t2-deficient-leukoencephalopathy/#synonyms "DO"]
synonym: "Cystic Leukoencephalopathy" EXACT []
synonym: "Cystic Leukoencephalopathy without Megalencephaly" EXACT []
synonym: "infantile-onset RNASET2 deficient cystic leukoencephalopathy" EXACT []
xref: GARD:13199
xref: MESH:C567845
xref: ORDO:85136
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9007583 ! Cysts
created_by: mtutaj
creation_date: 2021-08-21T18:45:48Z

[Term]
id: DOID:0081008
name: intellectual developmental disorder with cardiac arrhythmia
alt_id: DOID:9007723
def: "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27523599/ "DO"]
synonym: "GNB5-related intellectual disability-cardiac arrhythmia syndrome" EXACT []
synonym: "IDDCA" EXACT []
xref: MIM:617173
xref: NCI:C164154
xref: ORDO:542306
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9000064 ! Cardiac Arrhythmias
is_a: DOID:9008514 ! Psychomotor Disorders
created_by: mtutaj
creation_date: 2021-08-21T18:51:05Z

[Term]
id: DOID:0081009
name: Bardet-Biedl syndrome 20
alt_id: DOID:9002181
def: "A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24290075/ "DO"]
synonym: "BBS20" EXACT []
xref: MIM:619471
is_a: DOID:1935 ! Bardet-Biedl syndrome
created_by: mtutaj
creation_date: 2021-08-21T19:46:08Z

[Term]
id: DOID:0081010
name: Bardet-Biedl syndrome 21
alt_id: DOID:9004815
def: "A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27008867/ "DO"]
synonym: "BBS21" EXACT []
synonym: "C8ORF37-RELATED DISORDER" BROAD []
synonym: "CFAP418-RELATED CONDITION" BROAD []
xref: MIM:617406
is_a: DOID:1935 ! Bardet-Biedl syndrome
created_by: mtutaj
creation_date: 2021-08-21T19:48:05Z

[Term]
id: DOID:0081011
name: Bardet-Biedl syndrome 22
alt_id: DOID:9004483
def: "A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27486776/ "DO"]
synonym: "Bardet-Biedl syndrome 20 (formerly)" RELATED []
synonym: "BBS20 (formerly)" RELATED []
synonym: "BBS22" EXACT []
xref: MIM:617119
is_a: DOID:1935 ! Bardet-Biedl syndrome
created_by: mtutaj
creation_date: 2021-08-21T19:49:26Z

[Term]
id: DOID:0081012
name: critical COVID-19
def: "A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy. (DO)" [https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 "DO"]
is_a: DOID:0080600 ! COVID-19
created_by: mtutaj
creation_date: 2021-10-01T10:07:33Z

[Term]
id: DOID:0081013
name: severe COVID-19
def: "A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs. (DO)" [https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 "DO"]
synonym: "SUSCEPTIBILITY TO SEVERE CORONAVIRUS DISEASE (COVID-19) DUE TO HIGH LEVELS OF FIBRINOGEN AND C-REACTIVE PROTEIN" RELATED []
synonym: "SUSCEPTIBILITY TO SEVERE COVID-19" RELATED []
is_a: DOID:0080600 ! COVID-19
created_by: mtutaj
creation_date: 2021-10-01T10:08:50Z

[Term]
id: DOID:0081014
name: non-severe COVID-19
def: "A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19. (DO)" [https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 "DO"]
is_a: DOID:0080600 ! COVID-19
created_by: mtutaj
creation_date: 2021-10-01T10:09:45Z

[Term]
id: DOID:0081015
name: congenital fibrosis of the extraocular muscles 1
alt_id: DOID:9007664
alt_id: DOID:9008536
alt_id: MESH:C567739
def: "A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18214786/ "DO"]
synonym: "blepharoptosis with absent eye movements" BROAD []
synonym: "CFEOM1" EXACT []
synonym: "CFEOM3B" RELATED []
synonym: "congenital fibrosis of extraocular muscles 1" EXACT []
synonym: "congenital fibrosis of extraocular muscles 3B" RELATED []
synonym: "FEOM1" EXACT []
synonym: "KIF21A-RELATED CONDITION" EXACT []
xref: MIM:135700
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles
is_a: DOID:9002525 ! Hereditary Eye Diseases
created_by: mtutaj
creation_date: 2021-10-01T10:11:03Z

[Term]
id: DOID:0081016
name: congenital fibrosis of the extraocular muscles 2
alt_id: DOID:9005788
alt_id: MIM:602078
def: "A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11600883/ "DO"]
synonym: "CFEOM2" EXACT []
synonym: "congenital fibrosis of extraocular muscles 2" EXACT []
synonym: "congenital fibrosis of extraocular muscles, autosomal recessive" BROAD []
synonym: "FEOM2 LOCUS" EXACT []
xref: MESH:C566587
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060260 ! ptosis
is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles
is_a: DOID:9002525 ! Hereditary Eye Diseases
created_by: mtutaj
creation_date: 2021-10-01T10:14:17Z

[Term]
id: DOID:0081017
name: congenital fibrosis of the extraocular muscles 3A
alt_id: DOID:9005277
alt_id: MIM:600638
def: "A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18214786/ "DO"]
synonym: "CFEOM3A" EXACT []
synonym: "congenital fibrosis of extraocular muscles 3A, with or without extraocular involvement" EXACT []
synonym: "FEOM3 LOCUS" EXACT []
synonym: "TUBB3-RELATED CONDITION" BROAD []
synonym: "TUBB3-RELATED DISORDER" BROAD []
synonym: "TUBB3-RELATED TUBULINOPATHY" BROAD []
xref: MESH:C567572
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles
is_a: DOID:9002525 ! Hereditary Eye Diseases
created_by: mtutaj
creation_date: 2021-10-01T10:16:57Z

[Term]
id: DOID:0081019
name: congenital fibrosis of the extraocular muscles 3C
alt_id: DOID:9000360
alt_id: MIM:609384
def: "A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). (DO)" [https://pubmed.ncbi.nlm.nih.gov/15744040/ "DO"]
synonym: "CFEOM3C" EXACT []
synonym: "congenital fibrosis of extraocular muscles 3C" EXACT []
xref: MESH:C567666
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles
is_a: DOID:9002525 ! Hereditary Eye Diseases
created_by: mtutaj
creation_date: 2021-10-01T10:19:48Z

[Term]
id: DOID:0081020
name: congenital fibrosis of the extraocular muscles 5
alt_id: DOID:9008337
def: "A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25500261/ "DO"]
synonym: "CFEOM5" EXACT []
synonym: "congenital fibrosis of extraocular muscles 5" EXACT []
xref: MIM:616219
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles
is_a: DOID:9002525 ! Hereditary Eye Diseases
created_by: mtutaj
creation_date: 2021-10-01T10:23:35Z

[Term]
id: DOID:0081021
name: Tukel syndrome
alt_id: DOID:9003903
alt_id: MIM:609428
def: "A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15863670/ "DO"]
synonym: "CFEOM4" EXACT []
synonym: "CFEOM-U" EXACT []
synonym: "congenital extraocular muscle fibrosis with ulnar hand anomalies" EXACT []
synonym: "congenital fibrosis of extraocular muscles 4" EXACT []
synonym: "congenital fibrosis of extraocular muscles with ulnar hand anomalies" EXACT []
synonym: "congenital fibrosis of the extraocular muscles 4" EXACT []
xref: GARD:9814
xref: MESH:C536925
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
created_by: mtutaj
creation_date: 2021-10-01T10:26:36Z

[Term]
id: DOID:0081022
name: retinal cone dystrophy 3B
alt_id: DOID:9007644
alt_id: MIM:610356
def: "A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15722315/ "DO"]
synonym: "CDSRR" EXACT []
synonym: "Cone Dystrophy with Night Blindness and Supernormal Rod Responses, KCNV2-Related" EXACT []
synonym: "CONE DYSTROPHY WITH SUPERNORMAL ROD ELECTRORETINOGRAM" EXACT []
synonym: "CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES" EXACT []
synonym: "KCNV2-RELATED CONDITION" EXACT []
synonym: "RCD3B" EXACT []
xref: GARD:10649
xref: MESH:C563678
xref: NCI:C192089
xref: ORDO:209932
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050795 ! cone dystrophy
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2021-11-16T14:46:03Z

[Term]
id: DOID:0081023
name: retinal cone dystrophy 4
alt_id: DOID:9003327
alt_id: MIM:610478
def: "A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26560832/ "DO"]
synonym: "CACNA2D4-RELATED CONDITION" EXACT []
synonym: "RCD4" EXACT []
xref: GARD:10650
xref: MESH:C566470
is_a: DOID:0050795 ! cone dystrophy
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2021-11-16T14:49:13Z

[Term]
id: DOID:0081024
name: retinal cone dystrophy 1
alt_id: DOID:9001071
alt_id: MIM:180020
def: "A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15051206/ "DO", https://pubmed.ncbi.nlm.nih.gov/4573331/ "DO"]
synonym: "Cone Dystrophy, Autosomal Dominant" EXACT []
synonym: "RCD1" EXACT []
synonym: "Retinal Cone Degeneration" EXACT []
xref: GARD:3196
xref: MESH:C566719
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050795 ! cone dystrophy
is_a: DOID:8466 ! retinal degeneration
created_by: mtutaj
creation_date: 2021-11-16T14:50:46Z

[Term]
id: DOID:0081025
name: retinal cone dystrophy 3A
alt_id: DOID:9004469
alt_id: MIM:610024
def: "A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22901948/ "DO"]
synonym: "ACHM6" RELATED []
synonym: "achromatopsia 6" RELATED []
synonym: "Cone Dystrophy with Night Blindness and Supernormal Rod Responses, PDE6H-Related" EXACT []
synonym: "RCD3A" EXACT []
xref: GARD:10648
xref: MESH:C566483
is_a: DOID:0050795 ! cone dystrophy
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2021-11-16T14:52:18Z

[Term]
id: DOID:0081026
name: benign peritoneal solitary fibrous tumor
def: "A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. (DO)" [https://www.medscimonit.com/abstract/index/idArt/459077/act/3 "DO"]
xref: NCI:C126357
is_a: DOID:0060117 ! peritoneal benign neoplasm
created_by: mtutaj
creation_date: 2021-11-16T14:54:01Z

[Term]
id: DOID:0081028
name: glycogen-rich carcinoma
def: "A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5350496/ "DO"]
xref: ICDO:8315/3
xref: NCI:C4153
is_a: DOID:3458 ! breast adenocarcinoma
created_by: mtutaj
creation_date: 2021-12-15T22:59:11Z

[Term]
id: DOID:0081030
name: central conducting lymphatic anomaly
alt_id: DOID:9006808
def: "A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31263281/ "DO"]
synonym: "central conduction lymphatic anomaly" EXACT []
synonym: "EPHB4-ASSOCIATED VASCULAR MALFORMATION SPECTRUM" BROAD []
synonym: "EPHB4-RELATED CONDITION" BROAD []
synonym: "EPHB4-RELATED DISORDERS" BROAD []
synonym: "HFASD" EXACT []
synonym: "LMPHM7" EXACT []
synonym: "lymphatic malformation 7" EXACT []
synonym: "nonimmune hydrops fetalis and/or atrial septal defect" EXACT []
synonym: "susceptibility to nonimmune hydrops fetalis and/or atrial septal defect" RELATED []
xref: MIM:617300
is_a: DOID:0050580 ! hereditary lymphedema
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:9008386 ! Hydrops Fetalis
created_by: mtutaj
creation_date: 2022-02-01T09:17:57Z

[Term]
id: DOID:0081031
name: generalized lymphatic anomaly
def: "A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31263281/ "DO"]
is_a: DOID:75 ! lymphatic system disease
created_by: mtutaj
creation_date: 2022-02-01T09:22:28Z

[Term]
id: DOID:0081034
name: glutatione synthetase deficiency with 5-oxoprolinuria
def: "A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15990954/ "DO"]
xref: MIM:266130
xref: ORDO:32
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080699 ! glutathione synthetase deficiency
created_by: mtutaj
creation_date: 2022-02-21T22:25:26Z

[Term]
id: DOID:0081036
name: mixed phenotype acute leukemia with BCR-ABL1
def: "An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6369089/ "DO"]
synonym: "Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1" EXACT []
xref: ICDO:9806/3
xref: NCI:C82192
is_a: DOID:9953 ! acute biphenotypic leukemia
created_by: mtutaj
creation_date: 2022-02-21T22:30:10Z

[Term]
id: DOID:0081037
name: mixed phenotype acute leukemia with MLL rearranged
def: "An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32350732/ "DO"]
synonym: "Mixed Phenotype Acute Leukemia with t(v;11q23.3); MLL Rearranged" EXACT []
xref: ICDO:9807/3
xref: NCI:C82203
is_a: DOID:9953 ! acute biphenotypic leukemia
created_by: mtutaj
creation_date: 2022-02-21T22:31:35Z

[Term]
id: DOID:0081038
name: mixed phenotype acute leukemia, B/myeloid
def: "An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29686566/ "DO"]
xref: ICDO:9808/3
xref: NCI:C82212
is_a: DOID:9953 ! acute biphenotypic leukemia
created_by: mtutaj
creation_date: 2022-02-21T22:32:38Z

[Term]
id: DOID:0081039
name: mixed phenotype acute leukemia, T/myeloid
def: "An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens. (DO)" [https://link.springer.com/article/10.1186/1471-2407-14-963 "DO"]
xref: ICDO:9809/3
is_a: DOID:9953 ! acute biphenotypic leukemia
created_by: mtutaj
creation_date: 2022-02-21T22:33:57Z

[Term]
id: DOID:0081041
name: B-cell prolymphocytic leukemia
alt_id: DOID:9007112
def: "A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34293709/ "DO"]
synonym: "B-Cell Prolymphocytic Leukemias" EXACT []
synonym: "Prolymphocytic leukemia, B-cell type" EXACT []
xref: EFO:1000102
xref: GARD:8223
xref: ICDO:9833/3
xref: MESH:D054403
xref: NCI:C4753
xref: ORDO:86852
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma
is_a: DOID:1039 ! prolymphocytic leukemia
created_by: mtutaj
creation_date: 2022-02-21T22:35:46Z

[Term]
id: DOID:0081042
name: T-cell prolymphocytic leukemia
alt_id: DOID:9007193
def: "A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31082044/ "DO"]
synonym: "chronic T-lymphocytic leukemia" EXACT []
synonym: "Prolymphocytic leukemia, T-cell type" EXACT []
synonym: "T-cell chronic leukemia" EXACT []
synonym: "T-cell chronic lymphocytic leukemia" EXACT []
synonym: "T-Cell Prolymphocytic Leukemias" EXACT []
synonym: "T-Cell Prolymphocytic Leukemia, Somatic" EXACT []
synonym: "TCLL" EXACT []
xref: EFO:1000560
xref: ICDO:9834/3
xref: MESH:D015461
xref: NCI:C4752
xref: NCI:C70649
xref: ORDO:86871
is_a: DOID:1039 ! prolymphocytic leukemia
is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia
created_by: mtutaj
creation_date: 2022-02-21T22:39:22Z

[Term]
id: DOID:0081043
name: fetal akinesia deformation sequence syndrome X-linked
alt_id: DOID:9001100
alt_id: MIM:300073
def: "A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9018412/ "DO"]
synonym: "Brain malformation, growth retardation, hypokinesia and polyhydramnios" EXACT []
synonym: "Fetal Akinesia Syndrome, X-Linked" EXACT []
synonym: "Holmes Benacerraf syndrome" EXACT []
synonym: "X-linked form of fetal akinesia syndrome" EXACT []
xref: GARD:2293
xref: MESH:C537921
is_a: DOID:0002116 ! pterygium
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
created_by: mtutaj
creation_date: 2022-02-21T22:42:39Z

[Term]
id: DOID:0081044
name: frontonasal dysplasia
alt_id: DOID:9002345
def: "A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak. (DO)" [https://medlineplus.gov/genetics/condition/frontonasal-dysplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/27920634/ "DO"]
synonym: "FND" EXACT []
synonym: "FNM" EXACT []
synonym: "frontonasal dysplasias" EXACT []
synonym: "frontonasal malformation" EXACT []
synonym: "frontorhiny" EXACT []
synonym: "median facial cleft syndrome" EXACT []
xref: GARD:2392
xref: MESH:C538065
xref: MIM:PS136760
xref: NCI:C129028
xref: ORDO:391474
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2022-02-21T22:49:53Z

[Term]
id: DOID:0081045
name: frontonasal dysplasia 1
alt_id: DOID:9003445
def: "A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19409524/ "DO"]
synonym: "FND1" EXACT []
xref: MIM:136760
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081044 ! frontonasal dysplasia
is_a: DOID:1934 ! dysostosis
is_a: DOID:9003133 ! Hypertelorism
created_by: mtutaj
creation_date: 2022-02-21T22:53:01Z

[Term]
id: DOID:0081046
name: frontonasal dysplasia 2
alt_id: DOID:9007891
def: "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22140057/ "DO"]
synonym: "FND2" EXACT []
xref: MIM:613451
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081044 ! frontonasal dysplasia
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:987 ! alopecia
created_by: mtutaj
creation_date: 2022-02-21T22:55:00Z

[Term]
id: DOID:0081047
name: frontonasal dysplasia 3
alt_id: DOID:9000358
def: "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20451171/ "DO", https://pubmed.ncbi.nlm.nih.gov/27324866/ "DO"]
synonym: "FND3" EXACT []
synonym: "MIM:613456" RELATED []
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081044 ! frontonasal dysplasia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10629 ! microphthalmia
is_a: DOID:674 ! cleft palate
is_a: DOID:9003133 ! Hypertelorism
created_by: mtutaj
creation_date: 2022-02-21T22:58:17Z

[Term]
id: DOID:0081048
name: congenital limbs-face contractures-hypotonia-developmental delay syndrome
alt_id: DOID:9005675
def: "A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25864427/ "DO", https://pubmed.ncbi.nlm.nih.gov/30167850/ "DO", https://www.nature.com/articles/s41598-019-48071-x "DO"]
synonym: "CLIFAHDD" EXACT []
synonym: "CLIFAHDD syndrome" EXACT []
synonym: "congenital contractures of the limbs and face, hypotonia, and developmental delay" EXACT []
synonym: "NALCN-RELATED CONDITION" BROAD []
synonym: "NALCN-RELATED DISORDERS" BROAD []
xref: EFO:1001868
xref: MIM:616266
xref: ORDO:562528
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9006836 ! Contracture
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2022-02-21T23:00:03Z

[Term]
id: DOID:0081049
name: hepatosplenic T-cell lymphoma
def: "A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7596851/ "DO"]
xref: NCI:C8459
xref: ORDO:86882
is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma
created_by: mtutaj
creation_date: 2022-02-21T23:02:42Z

[Term]
id: DOID:0081050
name: primary cutaneous gamma-delta T-cell lymphoma
def: "A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3471805/ "DO", https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8628721/ "DO"]
synonym: "cutaneous gamma/delta T-cell lymphoma" EXACT []
synonym: "Primary Cutaneous Gamma-Delta T Cell Lymphomas" EXACT []
xref: NCI:C45340
is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma
created_by: mtutaj
creation_date: 2022-02-21T23:05:14Z

[Term]
id: DOID:0081051
name: microcephaly, growth deficiency, seizures, and brain malformations
alt_id: DOID:9008429
def: "A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26416026/ "DO"]
synonym: "MIGSB" EXACT []
synonym: "WDR4-RELATED CONDITION" BROAD []
xref: MIM:618346
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9006534 ! Nervous System Malformations
created_by: mtutaj
creation_date: 2022-02-22T07:56:24Z

[Term]
id: DOID:0081052
name: neurobehavioral disorder with prenatal alcohol exposure
def: "A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27464676/ "DO", https://www.cdc.gov/ncbddd/fasd/facts.html "DO"]
is_a: DOID:0050696 ! fetal alcohol spectrum disorder
created_by: mtutaj
creation_date: 2022-02-22T09:29:43Z

[Term]
id: DOID:0081055
name: central diabetes insipidus
def: "A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15070970/ "DO"]
xref: GARD:6015
xref: ORDO:178029
is_a: DOID:9409 ! diabetes insipidus
created_by: mtutaj
creation_date: 2022-02-22T09:30:52Z

[Term]
id: DOID:0081057
name: gestational diabetes insipidus
alt_id: DOID:9007430
def: "A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32205050/ "DO"]
synonym: "transient diabetes insipidus of pregnancy" EXACT []
xref: MESH:C548014
is_a: DOID:9409 ! diabetes insipidus
created_by: mtutaj
creation_date: 2022-02-22T09:34:44Z

[Term]
id: DOID:0081058
name: dipsogenic diabetes insipidus
alt_id: DOID:9006797
def: "A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33916272/ "DO", https://pubmed.ncbi.nlm.nih.gov/3455068/ "DO"]
xref: MESH:C548013
is_a: DOID:9409 ! diabetes insipidus
created_by: mtutaj
creation_date: 2022-02-22T09:36:33Z

[Term]
id: DOID:0081059
name: X-linked central diabetes insipidus
def: "A central diabetes insipidus that has_material_basis_in X-linked inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15070970/ "DO"]
synonym: "X-linked neurohypophyseal diabetes insipidus" EXACT []
xref: MIM:304900
xref: ORDO:30925
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0081055 ! central diabetes insipidus
created_by: mtutaj
creation_date: 2022-02-22T09:38:08Z

[Term]
id: DOID:0081060
name: X-linked nephrogenic diabetes insipidus
alt_id: DOID:9008715
def: "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11181969/ "DO"]
synonym: "AVPR2-RELATED CONDITION" BROAD []
synonym: "NDI1" EXACT []
synonym: "Nephrogenic Diabetes Insipidus 1" EXACT []
synonym: "nephrogenic diabetes insipidus type 1" EXACT []
synonym: "Nephrogenic Diabetes Insipidus, Type I" EXACT []
synonym: "X-linked nephrogenic diabetes insipidus 1" EXACT []
synonym: "XNDI" EXACT []
xref: MIM:304800
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:12387 ! nephrogenic diabetes insipidus
created_by: mtutaj
creation_date: 2022-02-22T09:47:46Z

[Term]
id: DOID:0081061
name: nephrogenic diabetes insipidus type 2
alt_id: DOID:9005273
def: "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13. (DO)" [https://medlineplus.gov/ency/article/000511.htm "DO"]
synonym: "autosomal nephrogenic diabetes insipidus-2" EXACT []
synonym: "Diabetes Insipidus, Nephrogenic, Autosomal" EXACT []
synonym: "NDI2" EXACT []
synonym: "Nephrogenic Diabetes Insipidus 2" EXACT []
synonym: "Nephrogenic Diabetes Insipidus, Type II" EXACT []
xref: MIM:125800
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12387 ! nephrogenic diabetes insipidus
created_by: mtutaj
creation_date: 2022-02-22T09:56:58Z

[Term]
id: DOID:0081063
name: DICER1 syndrome
def: "A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. (DO)" [https://medlineplus.gov/genetics/condition/dicer1-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/31409088/ "DO", https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5977116/ "DO"]
synonym: "Pleuro-pulmonary blastoma familial tumor susceptibility" EXACT []
synonym: "Pleuro-pulmonary blastoma familial tumor susceptibility syndrome" EXACT []
synonym: "Pleuropulmonary blastoma familial tumor susceptibility syndrome" EXACT []
synonym: "PPB familial tumor susceptibility syndrome" EXACT []
xref: EFO:0009068
xref: MIM:601200
xref: ORDO:284343
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:4765 ! pulmonary blastoma
created_by: mtutaj
creation_date: 2022-04-04T09:48:19Z

[Term]
id: DOID:0081064
name: BN2 diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29641966/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/ "DO"]
synonym: "BN2 DLBCL" EXACT []
xref: NCI:C148395
is_a: DOID:0050745 ! diffuse large B-cell lymphoma
created_by: mtutaj
creation_date: 2022-04-04T09:54:15Z

[Term]
id: DOID:0081065
name: EZB diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29641966/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/ "DO"]
synonym: "EZB DLBCL" EXACT []
xref: NCI:C148398
is_a: DOID:0050745 ! diffuse large B-cell lymphoma
created_by: mtutaj
creation_date: 2022-04-04T09:55:38Z

[Term]
id: DOID:0081066
name: MCD diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29641966/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/ "DO"]
synonym: "MCD DLBCL" EXACT []
xref: NCI:C148394
is_a: DOID:0050745 ! diffuse large B-cell lymphoma
created_by: mtutaj
creation_date: 2022-04-04T09:56:39Z

[Term]
id: DOID:0081067
name: N1 diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29641966/ "DO"]
synonym: "N1 DLBCL" EXACT []
xref: MONDO:0850471
xref: NCI:C148396
is_a: DOID:0050745 ! diffuse large B-cell lymphoma
created_by: mtutaj
creation_date: 2022-04-04T09:57:37Z

[Term]
id: DOID:0081068
name: ST2 diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010183/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8459709/ "DO"]
synonym: "ST2 DLBCL" EXACT []
is_a: DOID:0050745 ! diffuse large B-cell lymphoma
created_by: mtutaj
creation_date: 2022-04-28T16:52:11Z

[Term]
id: DOID:0081069
name: A53 diffuse large B-cell lymphoma
def: "A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32289277/ "DO"]
synonym: "A53 DLBCL" EXACT []
is_a: DOID:0050745 ! diffuse large B-cell lymphoma
created_by: mtutaj
creation_date: 2022-04-28T16:53:13Z

[Term]
id: DOID:0081070
name: EZB-MYC+ diffuse large B-cell lymphoma
def: "An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32289277/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010183/ "DO"]
synonym: "EZB-MYC+ DLBCL" EXACT []
is_a: DOID:0081065 ! EZB diffuse large B-cell lymphoma
created_by: mtutaj
creation_date: 2022-04-28T16:54:03Z

[Term]
id: DOID:0081071
name: EZB-MYC- diffuse large B-cell lymphoma
def: "An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32289277/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6010183/ "DO"]
synonym: "EZB-MYC- DLBCL" EXACT []
is_a: DOID:0081065 ! EZB diffuse large B-cell lymphoma
created_by: mtutaj
creation_date: 2022-04-28T16:54:56Z

[Term]
id: DOID:0081072
name: craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
alt_id: DOID:9006917
def: "A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. (DO)" [https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/20018682/ "DO", https://pubmed.ncbi.nlm.nih.gov/24194475/ "DO", https://pubmed.ncbi.nlm.nih.gov/30556256/ "DO"]
synonym: "Cerebro-facio-thoracic dysplasia" EXACT []
synonym: "Cerebrofaciothoracic Dysplasia" EXACT []
synonym: "CFSMR" EXACT []
synonym: "Pascual-Castroviejo syndrome" EXACT []
synonym: "TMCO1 defect syndrome" EXACT []
xref: GARD:1210
xref: MESH:C565862
xref: MIM:PS213980
xref: ORDO:1394
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: mtutaj
creation_date: 2022-06-02T22:06:05Z

[Term]
id: DOID:0081073
name: Teebi hypertelorism syndrome
alt_id: DOID:9006500
alt_id: DOID:9007841
def: "A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26111080/ "DO", https://www.omim.org/entry/145420 "DO"]
synonym: "brachycephalofrontonasal dysplasia" EXACT []
synonym: "Hypertelorism, Teebi type" EXACT []
synonym: "Teebi Syndrome" EXACT []
xref: GARD:957
xref: MESH:C536951
xref: MIM:PS145420
xref: ORDO:2745
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2022-06-02T21:50:12Z

[Term]
id: DOID:0081074
name: Teebi hypertelorism syndrome 2
alt_id: DOID:9000320
def: "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33811546/ "DO"]
synonym: "TBHS2" EXACT []
xref: MIM:619736
is_a: DOID:0081073 ! Teebi hypertelorism syndrome
created_by: mtutaj
creation_date: 2022-06-02T22:15:05Z

[Term]
id: DOID:0081075
name: Marsili syndrome
alt_id: DOID:9007785
alt_id: MIM:147430
def: "A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29253101/ "DO"]
synonym: "Congenital Analgesia, Autosomal Dominant" EXACT []
synonym: "IMPAIRED THERMAL SENSITIVITY" NARROW []
synonym: "Indifference to Pain, Congenital, Autosomal Dominant" EXACT []
synonym: "INSENSITIVITY TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT" EXACT []
synonym: "MARSIS" EXACT []
xref: MESH:C564128
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008482 ! Congenital Pain Insensitivity
created_by: mtutaj
creation_date: 2022-06-02T22:17:50Z

[Term]
id: DOID:0081076
name: blastic plasmacytoid dendritic cell neoplasm
def: "An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30350260/ "DO", https://pubmed.ncbi.nlm.nih.gov/31972688/ "DO", https://www.lls.org/leukemia/blastic-plasmacytoid-dendritic-cell-neoplasm "DO"]
synonym: "Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor" EXACT []
synonym: "Agranular CD4+ Natural Killer Cell Leukemia" EXACT []
synonym: "Blastic Natural Killer Leukemia/Lymphoma" EXACT []
synonym: "Blastic NK-Cell Lymphoma" EXACT []
synonym: "CD4+/CD56+ Hematodermic Neoplasm" EXACT []
synonym: "natural killer (NK) cell leukemia/lymphoma" EXACT []
xref: EFO:0010580
xref: GARD:10556
xref: NCI:C7203
is_a: DOID:12603 ! acute leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:21:46Z

[Term]
id: DOID:0081077
name: ectodermal dysplasia and immune deficiency
alt_id: DOID:9003414
def: "An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency. (DO)" [https://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency/ "DO", https://pubmed.ncbi.nlm.nih.gov/27477329/ "DO", https://pubmed.ncbi.nlm.nih.gov/34815879/ "DO"]
synonym: "Anhidrotic ectodermal dysplasia with immune deficiency" EXACT []
synonym: "Ectodermal Dysplasia and Immunodeficiency" EXACT []
synonym: "Ectodermal dysplasia, hypohidrotic, with immune deficiency" EXACT []
xref: GARD:9936
xref: MIM:PS300291
is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2022-06-02T22:24:16Z

[Term]
id: DOID:0081078
name: ectodermal dysplasia and immunodeficiency 1
alt_id: DOID:9005011
alt_id: MESH:C564538
alt_id: MESH:C564542
alt_id: MIM:300291
def: "An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31965418/ "DO"]
synonym: "anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema" EXACT []
synonym: "Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency" EXACT []
synonym: "EDA-ID" EXACT []
synonym: "EDAID1" EXACT []
synonym: "HED-ID  ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY" EXACT []
synonym: "Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency" EXACT []
synonym: "OLEDAID" EXACT []
synonym: "XHM-ED" EXACT []
synonym: "X-linked hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia" EXACT []
xref: MESH:C536181
xref: NCI:C118844
xref: ORDO:69088
is_a: DOID:0060022 ! CD40 ligand deficiency
is_a: DOID:0081077 ! ectodermal dysplasia and immune deficiency
is_a: DOID:13533 ! osteopetrosis
is_a: DOID:4977 ! lymphedema
created_by: mtutaj
creation_date: 2022-06-02T22:27:35Z

[Term]
id: DOID:0081079
name: ectodermal dysplasia and immunodeficiency 2
alt_id: DOID:9000561
alt_id: MIM:612132
def: "An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28597146/ "DO"]
synonym: "anhidrotic ectodermal dysplasia with immunodeficiency 2" EXACT []
synonym: "anhidrotic ectodermal dysplasia with T-cell immunodeficiency, autosomal dominant" EXACT []
synonym: "EDAID2" EXACT []
synonym: "hypohidrotic ectodermal dysplasia with immunodeficiency 2" EXACT []
xref: MESH:C567411
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081077 ! ectodermal dysplasia and immune deficiency
created_by: mtutaj
creation_date: 2022-06-02T22:30:02Z

[Term]
id: DOID:0081080
name: acute myeloid leukemia with t(6;9) (p23;q34.1)
def: "An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32526729/ "DO"]
synonym: "acute myeloid leukemia with t(6;9)(p23;q34)" EXACT []
synonym: "Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214" EXACT []
synonym: "DEK-NUP214" EXACT []
xref: ICDO:9865/3
xref: NCI:C82423
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:31:55Z

[Term]
id: DOID:0081081
name: acute promyelocytic leukemia with PML-RARA
def: "An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24720386/ "DO"]
synonym: "acute promyelocytic leukemia, t(15;17)(q22;q11-12)" EXACT []
xref: EFO:0000224
xref: ICDO:9866/3
is_a: DOID:0060318 ! acute promyelocytic leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:34:45Z

[Term]
id: DOID:0081082
name: acute myelomonocytic leukemia
alt_id: DOID:9000952
def: "An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31915926/ "DO"]
synonym: "acute myeloid leukemia, M4" EXACT []
synonym: "Acute Myelomonocytic Leukemias" EXACT []
synonym: "Naegeli-Type Myeloid Leukemia" EXACT []
xref: EFO:0000223
xref: ICD10CM:C92.5
xref: ICDO:9867/3
xref: MESH:D015479
xref: NCI:C7463
xref: ORDO:517
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:35:56Z

[Term]
id: DOID:0081083
name: acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2)
def: "An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31711889/ "DO"]
synonym: "Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM" EXACT []
synonym: "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1" EXACT []
xref: ICDO:9869/3
xref: NCI:C82426
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:40:06Z

[Term]
id: DOID:0081084
name: acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22)
def: "An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31353165/ "DO", https://pubmed.ncbi.nlm.nih.gov/33303720/ "DO"]
synonym: "acute myeloid leukemia with abnormal marrow eosinophils" EXACT []
synonym: "Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11" EXACT []
xref: ICDO:9871/3
xref: NCI:C9287
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:41:34Z

[Term]
id: DOID:0081085
name: acute myeloid leukemia with minimal differentiation
def: "An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12110349/ "DO"]
synonym: "Acute myeloid leukemia, minimal differentiation" EXACT []
synonym: "AML-M0" EXACT []
xref: EFO:0003026
xref: ICDO:9872/3
xref: NCI:C8460
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:42:39Z

[Term]
id: DOID:0081086
name: acute myeloid leukemia without maturation
def: "An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage. (DO)" [https://wiki.clinicalflow.com/aml-acute-myelogenous-leukemia-without-maturation-m1 "DO"]
xref: EFO:0003027
xref: GARD:526
xref: ICDO:9873/3
xref: NCI:C3249
xref: ORDO:98833
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:44:08Z

[Term]
id: DOID:0081087
name: acute myeloid leukemia with maturation
def: "An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage. (DO)" [https://en.wikipedia.org/wiki/Acute_myeloblastic_leukemia_with_maturation "DO"]
xref: EFO:0003028
xref: ICDO:9874/3
xref: NCI:C3250
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:45:31Z

[Term]
id: DOID:0081088
name: chronic myelogenous leukemia, BCR-ABL1 positive
def: "A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32239758/ "DO"]
synonym: "Chronic myelogenous leukemia, BCR/ABL positive" EXACT []
xref: EFO:0000339
xref: ICDO:9875/3
is_a: DOID:8552 ! chronic myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:46:45Z

[Term]
id: DOID:0081089
name: acute myeloid leukemia with mutated NPM1
def: "An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32609823/ "DO"]
xref: ICDO:9877/3
xref: NCI:C82431
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:48:00Z

[Term]
id: DOID:0081090
name: acute myeloid leukemia with biallelic mutation of CEBPA
def: "An acute myeloid leukemia with double mutations of the CEBPA gene. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394975/ "DO"]
xref: ICDO:9878/3
xref: NCI:C129782
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:49:05Z

[Term]
id: DOID:0081091
name: acute myeloid leukemia with mutated RUNX1
def: "An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32871587/ "DO"]
xref: ICDO:9879/3
xref: NCI:C129786
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:50:12Z

[Term]
id: DOID:0081092
name: acute myeloid leukemia with myelodysplasia-related changes
def: "An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32864703/ "DO"]
xref: ICDO:9895/3
xref: NCI:C7600
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:51:33Z

[Term]
id: DOID:0081093
name: acute myeloid leukemia with t(8;21); (q22; q22.1)
def: "An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31004601/ "DO", https://pubmed.ncbi.nlm.nih.gov/35502592/ "DO"]
synonym: "acute myeloid leukemia, t(8;21)(q22;q22)" EXACT []
synonym: "Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1" EXACT []
xref: ICDO:9896/3
xref: NCI:C9288
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:52:31Z

[Term]
id: DOID:0081094
name: acute myeloid leukemia with MLL rearrangement
def: "An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34964255/ "DO"]
synonym: "acute myeloid leukemia, 11q23 abnormalities" EXACT []
synonym: "Acute Myeloid Leukemia with KMT2A/MLL Rearrangement" EXACT []
xref: ICDO:9897/3
xref: NCI:C174129
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:53:30Z

[Term]
id: DOID:0081095
name: acute myeloid leukemia with mutated CEBPA
def: "An acute myeloid leukemia with non-germline mutations of the CEBPA gene. (DO)" [https://medlineplus.gov/genetics/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa/ "DO"]
xref: ICDO:9861/3
xref: NCI:C82433
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:54:35Z

[Term]
id: DOID:0081096
name: acute myeloid leukemia with t(1;22)(p13;q13)
def: "An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22469944/ "DO"]
synonym: "Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1" EXACT []
xref: ICDO:9911/3
xref: NCI:C82427
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2022-06-02T22:55:46Z

[Term]
id: DOID:0081097
name: Rafiq syndrome
alt_id: DOID:9001597
def: "An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29908352/ "DO"]
synonym: "CDG2U" EXACT []
synonym: "MAN1B1-CDG" EXACT []
synonym: "MAN1B1-RELATED DISORDER" EXACT []
synonym: "Mental Retardation, Autosomal Recessive 15" EXACT []
synonym: "MRT15" EXACT []
synonym: "RAFQS" EXACT []
xref: MIM:614202
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-06-02T22:56:56Z

[Term]
id: DOID:0081098
name: autosomal recessive intellectual developmental disorder 13
alt_id: DOID:9002559
alt_id: MIM:613192
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22549410/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 13" EXACT []
synonym: "INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME" EXACT []
synonym: "mental retardation, autosomal recessive 13" EXACT []
synonym: "MRT13" EXACT []
synonym: "TRAPPC9-RELATED CONDITION" EXACT []
xref: MESH:C567714
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-06-02T22:59:26Z

[Term]
id: DOID:0081099
name: neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
alt_id: DOID:9003083
def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30296593/ "DO"]
synonym: "INTELLECTUAL DISABILITY-STRABISMUS SYNDROME" EXACT []
synonym: "Mental Retardation, Autosomal Recessive 36" EXACT []
synonym: "MRT36" EXACT []
xref: MIM:615286
xref: NCI:C186789
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-06-02T23:04:16Z

[Term]
id: DOID:0081100
name: spastic paraplegia with deafness
alt_id: DOID:9005350
alt_id: MIM:312910
def: "A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27271711/ "DO", https://pubmed.ncbi.nlm.nih.gov/3741213/ "DO"]
synonym: "familial spastic paraparesis and deafness" EXACT []
synonym: "spastic paraparesis and deafness" EXACT []
synonym: "spastic paraparesis-deafness syndrome" EXACT []
synonym: "Wells Jankovic Syndrome" EXACT []
xref: GARD:5555
xref: MESH:C536692
xref: ORDO:2815
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9007428 ! Muscle Spasticity
is_a: DOID:9008681 ! Deafness
created_by: mtutaj
creation_date: 2022-07-27T16:59:17Z

[Term]
id: DOID:0081101
name: nonautoimmune hyperthyroidism
alt_id: DOID:9004050
def: "A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8964822/ "DO"]
synonym: "nonautoimmune hyperthyroidism, autosomal dominant" EXACT []
synonym: "nonautoimmune hyperthyroidism, congenital" EXACT []
synonym: "Toxic Thyroid Hyperplasia, Autosomal Dominant" EXACT []
xref: MESH:C563786
xref: MIM:609152
xref: MONDO:0012203
xref: ORDO:424
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:7998 ! hyperthyroidism
created_by: mtutaj
creation_date: 2022-07-27T17:19:09Z

[Term]
id: DOID:0081102
name: familial gestational hyperthyroidism
alt_id: DOID:9000010
alt_id: MIM:603373
def: "A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9267761/ "DO"]
xref: MESH:C566384
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:7998 ! hyperthyroidism
is_a: DOID:9004702 ! Pregnancy Complications
created_by: mtutaj
creation_date: 2022-07-27T18:18:46Z

[Term]
id: DOID:0081104
name: hot water epilepsy
alt_id: DOID:9001217
def: "A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12558829/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/ "DO"]
synonym: "BATHING EPILEPSY" EXACT []
synonym: "hot water epilepsies" EXACT []
synonym: "WATER IMMERSION EPILEPSY" EXACT []
xref: MIM:PS613339
xref: ORDO:166412
is_a: DOID:2548 ! reflex epilepsy
created_by: mtutaj
creation_date: 2022-07-27T18:20:47Z

[Term]
id: DOID:0081105
name: keratosis palmoplantaris striata
def: "A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29934816/ "DO"]
xref: ORDO:50942
is_a: DOID:3390 ! palmoplantar keratosis
created_by: mtutaj
creation_date: 2022-07-27T18:28:22Z

[Term]
id: DOID:0081106
name: hot water epilepsy 1
alt_id: DOID:9004520
def: "A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12558829/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/ "DO"]
synonym: "HWE1" EXACT []
xref: MIM:613339
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081104 ! hot water epilepsy
created_by: mtutaj
creation_date: 2022-07-27T18:30:26Z

[Term]
id: DOID:0081107
name: hot water epilepsy 2
alt_id: DOID:9000000
def: "A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/ "DO"]
synonym: "HWE2" EXACT []
xref: MIM:613340
is_a: DOID:0081104 ! hot water epilepsy
created_by: mtutaj
creation_date: 2022-07-27T18:32:06Z

[Term]
id: DOID:0081108
name: keratosis palmoplantaris striata 1
alt_id: DOID:9005618
alt_id: MIM:148700
def: "A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29934816/ "DO"]
synonym: "DSG1-RELATED CONDITION" BROAD []
synonym: "keratoderma, palmoplantar striate form 1" EXACT []
synonym: "Keratoderma, Palmoplantar, Striate Form I" EXACT []
synonym: "Keratosis Palmoplantaris Striata I" EXACT []
synonym: "KPPS1" EXACT []
synonym: "PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE" EXACT []
synonym: "PPKS1" EXACT []
synonym: "SPPK1" EXACT []
synonym: "Striate palmoplantar keratoderma 1" EXACT []
synonym: "striate palmoplantar keratoderma I" EXACT []
xref: GARD:9172
xref: MESH:C536162
xref: ORDO:369999
xref: ORDO:370002
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081105 ! keratosis palmoplantaris striata
created_by: mtutaj
creation_date: 2022-07-27T18:33:41Z

[Term]
id: DOID:0081109
name: keratosis palmoplantaris striata 2
alt_id: DOID:9006504
alt_id: MIM:612908
def: "A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10594734/ "DO"]
synonym: "Keratoderma, Palmoplantar, Striate Form II" EXACT []
synonym: "Keratosis Palmoplantaris Striata II" EXACT []
synonym: "KPPS2" EXACT []
synonym: "PPKS2" EXACT []
synonym: "SPPK2" EXACT []
synonym: "Striate Palmoplantar Keratoderma II" EXACT []
xref: MESH:C565102
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081105 ! keratosis palmoplantaris striata
created_by: mtutaj
creation_date: 2022-07-27T18:35:52Z

[Term]
id: DOID:0081110
name: keratosis palmoplantaris striata 3
alt_id: DOID:9000001
alt_id: MIM:607654
def: "A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11982762/ "DO"]
synonym: "Keratosis Palmoplantaris Striata III" EXACT []
synonym: "KPPS3" EXACT []
synonym: "palmoplantar keratoderma, striate form 3" EXACT []
synonym: "palmoplantar keratoderma, striate form III" EXACT []
synonym: "PPKS3" EXACT []
synonym: "SPPK3" EXACT []
synonym: "Striate palmoplantar keratoderma 3" EXACT []
synonym: "striate palmoplantar keratoderma III" EXACT []
xref: MESH:C536163
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081105 ! keratosis palmoplantaris striata
created_by: mtutaj
creation_date: 2022-07-27T18:36:05Z

[Term]
id: DOID:0081111
name: osteosclerotic metaphyseal dysplasia
alt_id: DOID:9000003
def: "A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18811698/ "DO"]
synonym: "LRRK1-RELATED CONDITION" EXACT []
synonym: "OSMD" EXACT []
xref: MIM:615198
xref: ORDO:500548
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080019 ! metaphyseal dysplasia
is_a: DOID:4254 ! osteosclerosis
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2022-07-27T18:39:52Z

[Term]
id: DOID:0081112
name: Baraitser-Winter syndrome 1
alt_id: DOID:9004677
alt_id: MIM:243310
def: "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29220674/ "DO"]
synonym: "ACTB-RELATED BAFOPATHY" BROAD []
synonym: "BRWS1" EXACT []
synonym: "cerebrooculofacial lymphatic syndrome" EXACT []
synonym: "COFLS" EXACT []
synonym: "iris coloboma with ptosis, hypertelorism, and mental retardation" EXACT []
xref: MESH:C565462
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060229 ! Baraitser-Winter syndrome
created_by: mtutaj
creation_date: 2022-07-27T18:42:41Z

[Term]
id: DOID:0081113
name: Baraitser-Winter syndrome 2
alt_id: DOID:9000005
def: "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25052316/ "DO"]
synonym: "ACTG1-RELATED CONDITION" BROAD []
synonym: "ACTG1-RELATED DISORDER" BROAD []
synonym: "BRWS2" EXACT []
xref: MIM:614583
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060229 ! Baraitser-Winter syndrome
created_by: mtutaj
creation_date: 2022-07-27T18:44:37Z

[Term]
id: DOID:0081114
name: benign familial infantile seizures 1
alt_id: DOID:9000650
def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9339675/ "DO"]
synonym: "benign familial infantile convulsions 1" EXACT []
synonym: "BFIC1" EXACT []
synonym: "BFIS1" EXACT []
xref: MIM:601764
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060169 ! benign familial infantile epilepsy
created_by: mtutaj
creation_date: 2022-07-27T18:46:23Z

[Term]
id: DOID:0081115
name: benign familial infantile seizures 2
alt_id: DOID:9000007
alt_id: MIM:605751
def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18479385/ "DO"]
synonym: "Benign Familial Infantile Convulsions 2" EXACT []
synonym: "BFIC2" EXACT []
synonym: "BFIS2" EXACT []
xref: MESH:C565296
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060169 ! benign familial infantile epilepsy
created_by: mtutaj
creation_date: 2022-07-27T18:46:34Z

[Term]
id: DOID:0081116
name: benign familial infantile seizures 3
alt_id: DOID:9005759
alt_id: MIM:607745
def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11094099/ "DO"]
synonym: "benign familial infantile convulsions 3" EXACT []
synonym: "benign familial neonatal convulsions 3" EXACT []
synonym: "benign familial neonatal-infantile seizures" EXACT []
synonym: "benign neonatal epilepsy, 3" EXACT []
synonym: "BFIC3" EXACT []
synonym: "BFIS3" EXACT []
synonym: "SCN2A-related disorder" BROAD []
xref: MESH:C564274
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060169 ! benign familial infantile epilepsy
created_by: mtutaj
creation_date: 2022-07-27T18:46:45Z

[Term]
id: DOID:0081117
name: benign familial infantile seizures 4
alt_id: DOID:9007125
alt_id: MIM:612627
def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18811698/ "DO"]
synonym: "benign familial infantile convulsions, 4" EXACT []
synonym: "BFIC4" EXACT []
synonym: "BFIS4" EXACT []
xref: MESH:C567231
is_a: DOID:0060169 ! benign familial infantile epilepsy
created_by: mtutaj
creation_date: 2022-07-27T18:46:58Z

[Term]
id: DOID:0081118
name: benign familial infantile seizures 5
alt_id: DOID:9003651
def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23086396/ "DO"]
synonym: "benign familial infantile convulsions 5" EXACT []
synonym: "BFIC5" EXACT []
synonym: "BFIS5" EXACT []
xref: MIM:617080
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060169 ! benign familial infantile epilepsy
created_by: mtutaj
creation_date: 2022-07-27T18:47:08Z

[Term]
id: DOID:0081119
name: benign familial infantile seizures 6
def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25847220/ "DO"]
synonym: "autosomal dominant nocturnal frontal lobe epilepsy" EXACT []
synonym: "benign familial infantile convulsions 6" EXACT []
synonym: "BFIC6" EXACT []
synonym: "BFIS6" EXACT []
synonym: "nocturnal frontal lobe epilepsy-4" EXACT []
xref: MIM:610353
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060169 ! benign familial infantile epilepsy
created_by: mtutaj
creation_date: 2022-07-27T18:56:58Z

[Term]
id: DOID:0081120
name: Graves ophthalmopathy
alt_id: DOID:9000008
def: "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. (DO)" [https://en.wikipedia.org/wiki/Graves%27_ophthalmopathy "DO"]
synonym: "Congestive Ophthalmopathies" EXACT []
synonym: "Congestive Ophthalmopathy" EXACT []
synonym: "Dysthyroid Ophthalmopathies" EXACT []
synonym: "Dysthyroid Ophthalmopathy" EXACT []
synonym: "Edematous Ophthalmopathies" EXACT []
synonym: "Edematous Ophthalmopathy" EXACT []
synonym: "Graves' Orbitopathy" NARROW []
synonym: "Infiltrative Ophthalmopathies" EXACT []
synonym: "Infiltrative Ophthalmopathy" EXACT []
synonym: "Myopathic Ophthalmopathies" EXACT []
synonym: "Myopathic Ophthalmopathy" EXACT []
synonym: "Thyroid Associated Ophthalmopathies" EXACT []
synonym: "Thyroid Associated Ophthalmopathy" EXACT []
synonym: "Thyroid-Associated Orbitopathy" NARROW []
synonym: "Thyroid Eye Disease" EXACT []
xref: MESH:D049970
is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat
is_a: DOID:12361 ! Graves' disease
is_a: DOID:9002525 ! Hereditary Eye Diseases
created_by: mtutaj
creation_date: 2022-07-27T19:07:21Z

[Term]
id: DOID:0081121
name: inclusion body myopathy and brain white matter abnormalities
alt_id: DOID:9000013
def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34048612/ "DO"]
synonym: "ANXA11-RELATED CONDITION" BROAD []
synonym: "IBMWMA" EXACT []
synonym: "MSP6" EXACT []
synonym: "multisystem proteinopathy 6" EXACT []
xref: MIM:619733
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia
is_a: DOID:9002704 ! Leukoencephalopathies
created_by: slaulede
creation_date: 2022-03-18T19:11:23Z

[Term]
id: DOID:0081122
name: Catel Manzke syndrome
alt_id: DOID:9000014
def: "A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18501694/ "DO"]
synonym: "CATMANS" EXACT []
synonym: "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" EXACT []
synonym: "Index Finger Anomaly With Pierre Robin Syndrome" EXACT []
synonym: "MICROGNATHIA DIGITAL SYNDROME" EXACT []
synonym: "Palatodigital syndrome, Catel-Manzke type" EXACT []
synonym: "Pierre Robin syndrome with hyperphalangy and clinodactyly" EXACT []
xref: GARD:28
xref: MESH:C535347
xref: MIM:616145
xref: ORDO:1388
is_a: DOID:0080001 ! bone disease
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
created_by: mtutaj
creation_date: 2022-07-27T20:42:14Z

[Term]
id: DOID:0081123
name: X-linked mental retardation Gustavson type
alt_id: DOID:9000015
alt_id: MIM:309555
def: "A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8503440/ "DO"]
synonym: "GUST" EXACT []
synonym: "Gustavson syndrome" EXACT []
synonym: "intellectual developmental disorder with optic atrophy, deafness, and seizures" EXACT []
synonym: "intellectual developmental disorder, X-linked syndromic, Gustavson type" EXACT []
synonym: "Mental retardation with optic atrophy, deafness, and seizures" EXACT []
synonym: "Mental retardation X-linked severe Gustavson type" EXACT []
synonym: "MRXSG" EXACT []
xref: GARD:5611
xref: MESH:C536759
xref: ORDO:3078
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9008681 ! Deafness
created_by: mtutaj
creation_date: 2022-07-27T20:46:12Z

[Term]
id: DOID:0081124
name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1
def: "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24194475/ "DO"]
synonym: "CFSMR1" EXACT []
xref: MIM:213980
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081072 ! craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
created_by: mtutaj
creation_date: 2022-07-27T20:49:19Z

[Term]
id: DOID:0081125
name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
def: "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24194475/ "DO"]
synonym: "CFSMR2" EXACT []
xref: MIM:616994
is_a: DOID:0081072 ! craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
created_by: mtutaj
creation_date: 2022-07-27T20:49:31Z

[Term]
id: DOID:0081126
name: DeSanto-Shinawi syndrome
alt_id: DOID:9006965
def: "A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26264232/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK465012/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9034681/ "DO"]
synonym: "chromosome 10p12-p11 deletion syndrome" NARROW []
synonym: "DESSH" EXACT []
synonym: "developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities" EXACT []
synonym: "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" EXACT []
synonym: "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation" EXACT []
synonym: "WAC-RELATED CONDITION" EXACT []
synonym: "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" EXACT []
xref: MIM:616708
xref: ORDO:284169
xref: ORDO:466943
xref: ORDO:466950
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2022-08-29T13:07:21Z

[Term]
id: DOID:0081127
name: mandibuloacral dysplasia
def: "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body. (DO)" [https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/29208544/ "DO", https://rarediseases.org/rare-diseases/mandibuloacral-dysplasia/ "DO"]
synonym: "GARD:11893" EXACT []
synonym: "MIM:PS248370" EXACT []
synonym: "ORDO:2457" EXACT []
is_a: DOID:0080006 ! bone development disease
created_by: mtutaj
creation_date: 2022-08-29T13:10:08Z

[Term]
id: DOID:0081128
name: mandibuloacral dysplasia type A lipodystrophy
alt_id: DOID:9003444
alt_id: MIM:248370
def: "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19764019/ "DO"]
synonym: "Craniomandibular Dermatodysostosis" EXACT []
synonym: "CRANIOMANDIBULAR DERMATODYSOSTOSIS  MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL" NARROW []
synonym: "lipodystrophy type A associated with mandibuloacral dysplasia" EXACT []
synonym: "MADA" EXACT []
synonym: "MANDIBULOACRAL DYSOSTOSIS" NARROW []
synonym: "mandibuloacral dysplasia with type A lipodystrophy" EXACT []
synonym: "Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical" EXACT []
xref: GARD:3374
xref: MESH:C535705
xref: NCI:C123417
xref: ORDO:90153
is_a: DOID:0081127 ! mandibuloacral dysplasia
is_a: DOID:811 ! lipodystrophy
is_a: DOID:9001402 ! Acro-Osteolysis
created_by: mtutaj
creation_date: 2022-08-29T13:14:01Z

[Term]
id: DOID:0081129
name: mandibuloacral dysplasia type B lipodystrophy
alt_id: DOID:9004388
alt_id: MIM:608612
def: "A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11836320/ "DO"]
synonym: "lipodystrophy type B associated with mandibuloacral dysplasia" EXACT []
synonym: "MADB" EXACT []
synonym: "Mandibuloacral Dysplasia with Type B Lipodystrophy" EXACT []
synonym: "ZMPSTE24-related disorder" BROAD []
xref: MESH:C535706
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081127 ! mandibuloacral dysplasia
is_a: DOID:811 ! lipodystrophy
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2022-08-29T13:17:32Z

[Term]
id: DOID:0081130
name: BH4-deficient hyperphenylalaninemia C
alt_id: DOID:9002203
def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11388593/ "DO"]
synonym: "DHPR DEFICIENCY" EXACT []
synonym: "DIHYDROPTERIDINE REDUCTASE DEFICIENCY" EXACT []
synonym: "Dihydropteridine Reductase Deficiency Disease" EXACT []
synonym: "HPABH4C" EXACT []
synonym: "HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY" EXACT []
synonym: "QDPR DEFICIENCY" EXACT []
synonym: "QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY" EXACT []
synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency" EXACT []
xref: MIM:261630
xref: NCI:C138173
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
is_a: DOID:9281 ! phenylketonuria
created_by: mtutaj
creation_date: 2022-08-29T13:19:11Z

[Term]
id: DOID:0081131
name: BH4-deficient hyperphenylalaninemia D
alt_id: DOID:9000344
alt_id: MIM:264070
def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24204001/ "DO"]
synonym: "CADH DEFICIENCY" EXACT []
synonym: "HPABH4D" EXACT []
synonym: "HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY" EXACT []
synonym: "Hyperphenylalaninemia with Primapterinuria" EXACT []
synonym: "PCBD DEFICIENCY" EXACT []
synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency" EXACT []
xref: GARD:2843
xref: MESH:C538382
xref: ORDO:1578
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
is_a: DOID:9281 ! phenylketonuria
created_by: mtutaj
creation_date: 2022-08-29T13:20:21Z

[Term]
id: DOID:0081132
name: tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
def: "An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. (DO)" [https://medlineplus.gov/genetics/condition/tetrahydrobiopterin-deficiency/ "DO", https://pubmed.ncbi.nlm.nih.gov/11388593/ "DO"]
xref: GARD:7751
xref: ORDO:238583
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2022-08-29T13:20:47Z

[Term]
id: DOID:0081133
name: 3-methylglutaconic aciduria type 7a
def: "A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34140661/ "DO"]
synonym: "3-methylglutaconic aciduria, type VIIA" EXACT []
synonym: "3-methylglutaconic aciduria type VIIA, autosomal dominant" EXACT []
synonym: "MGCA7A" EXACT []
xref: MIM:619835
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0110003 ! 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
created_by: mtutaj
creation_date: 2022-08-29T13:26:56Z

[Term]
id: DOID:0081134
name: 3-methylglutaconic aciduria type 7b
def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25597510/ "DO", https://pubmed.ncbi.nlm.nih.gov/25597511/ "DO"]
synonym: "3-methylglutaconic aciduria, type VIIB" EXACT []
synonym: "3-methylglutaconic aciduria, type VIIB, autosomal recessive" EXACT []
synonym: "MGCA7B" EXACT []
xref: MIM:616271
is_a: DOID:0110003 ! 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
created_by: mtutaj
creation_date: 2022-08-29T13:32:10Z

[Term]
id: DOID:0081135
name: agammaglobulinemia 2
alt_id: DOID:9001787
def: "An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"]
synonym: "Agammaglobulinemia 2, Autosomal Recessive" EXACT []
synonym: "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT" EXACT []
synonym: "AGM2" EXACT []
xref: MIM:613500
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2583 ! agammaglobulinemia
created_by: mtutaj
creation_date: 2022-08-29T13:35:38Z

[Term]
id: DOID:0081136
name: agammaglobulinemia 1
alt_id: DOID:9001819
def: "An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"]
synonym: "Agammaglobulinemia 1, Autosomal Recessive" EXACT []
synonym: "AGM1" EXACT []
synonym: "autosomal recessive agammaglobulinemia due to IGHM defect" EXACT []
xref: MIM:601495
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2583 ! agammaglobulinemia
created_by: mtutaj
creation_date: 2022-08-29T13:37:37Z

[Term]
id: DOID:0081137
name: agammaglobulinemia 3
alt_id: DOID:9009084
def: "An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"]
synonym: "Agammaglobulinemia 3, Autosomal Recessive" EXACT []
synonym: "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT" EXACT []
synonym: "AGM3" EXACT []
xref: MIM:613501
xref: MONDO:0013288
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2583 ! agammaglobulinemia
created_by: mtutaj
creation_date: 2022-08-29T13:38:59Z

[Term]
id: DOID:0081138
name: agammaglobulinemia 6
alt_id: DOID:9001357
def: "An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"]
synonym: "Agammaglobulinemia 6, Autosomal Recessive" EXACT []
synonym: "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT" EXACT []
synonym: "AGM6" EXACT []
xref: MIM:612692
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2583 ! agammaglobulinemia
created_by: mtutaj
creation_date: 2022-08-29T13:40:39Z

[Term]
id: DOID:0081139
name: agammaglobulinemia 7
alt_id: DOID:9008850
def: "An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"]
synonym: "Agammaglobulinemia 7, Autosomal Recessive" EXACT []
synonym: "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT" EXACT []
synonym: "AGM7" EXACT []
xref: MIM:615214
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2583 ! agammaglobulinemia
created_by: mtutaj
creation_date: 2022-08-29T13:42:10Z

[Term]
id: DOID:0081140
name: agammaglobulinemia 8A
def: "An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"]
synonym: "agammaglobulinemia 8A, autosomal dominant" EXACT []
synonym: "agammaglobulinemia 8, autosomal dominant" EXACT []
synonym: "agammaglobulinemia, autosomal dominant, due to TCF3 defect" EXACT []
synonym: "AGM8A" EXACT []
xref: MIM:616941
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9008152 ! Agammaglobulinemia 8
created_by: mtutaj
creation_date: 2022-08-29T13:45:04Z

[Term]
id: DOID:0081141
name: agammaglobulinemia 9
alt_id: DOID:9008336
def: "An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"]
synonym: "Agammaglobulinemia 9, Autosomal Recessive" EXACT []
synonym: "agammaglobulinemia, autosomal recessive, due to SLC39A7 defect" EXACT []
synonym: "AGM9" EXACT []
xref: MIM:619693
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2583 ! agammaglobulinemia
created_by: mtutaj
creation_date: 2022-08-29T13:48:09Z

[Term]
id: DOID:0081142
name: agammaglobulinemia 10
alt_id: DOID:9001108
def: "An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"]
synonym: "Agammaglobulinemia 10, Autosomal Dominant" EXACT []
synonym: "agammaglobulinemia, autosomal dominant, due to SPI1 defect" EXACT []
synonym: "AGM10" EXACT []
xref: MIM:619707
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2583 ! agammaglobulinemia
created_by: mtutaj
creation_date: 2022-08-29T13:49:49Z

[Term]
id: DOID:0081143
name: agammaglobulinemia 8B
def: "An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"]
synonym: "agammaglobulinemia 8B, autosomal recessive" EXACT []
synonym: "agammaglobulinemia, autosomal recessive, due to TCF3 defect" EXACT []
synonym: "AGM8B" EXACT []
xref: MIM:619824
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9008152 ! Agammaglobulinemia 8
created_by: mtutaj
creation_date: 2022-08-29T13:51:24Z

[Term]
id: DOID:0081144
name: common variable immunodeficiency 1
alt_id: DOID:9002425
def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19426217/ "DO"]
synonym: "ANTIBODY DEFICIENCY DUE TO ICOS DEFECT" EXACT []
synonym: "CVID1" EXACT []
xref: MIM:607594
is_a: DOID:12177 ! common variable immunodeficiency
created_by: mtutaj
creation_date: 2022-08-29T13:54:26Z

[Term]
id: DOID:0081145
name: common variable immunodeficiency 2
alt_id: DOID:9007351
def: "A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16007087/ "DO"]
synonym: "ANTIBODY DEFICIENCY DUE TO TACI DEFECT" EXACT []
synonym: "CVID2" EXACT []
synonym: "HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY" EXACT []
xref: MIM:240500
xref: MONDO:0009413
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12177 ! common variable immunodeficiency
created_by: mtutaj
creation_date: 2022-08-29T13:56:38Z

[Term]
id: DOID:0081146
name: common variable immunodeficiency 3
alt_id: DOID:9002442
def: "A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16672701/ "DO"]
synonym: "ANTIBODY DEFICIENCY DUE TO CD19 DEFECT" EXACT []
synonym: "CVID3" EXACT []
xref: MIM:613493
is_a: DOID:12177 ! common variable immunodeficiency
created_by: mtutaj
creation_date: 2022-08-29T13:57:45Z

[Term]
id: DOID:0081147
name: common variable immunodeficiency 4
alt_id: DOID:9001886
def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19666484/ "DO"]
synonym: "ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT" EXACT []
synonym: "CVID4" EXACT []
xref: MIM:613494
is_a: DOID:12177 ! common variable immunodeficiency
created_by: mtutaj
creation_date: 2022-08-29T13:58:51Z

[Term]
id: DOID:0081148
name: common variable immunodeficiency 5
alt_id: DOID:9001688
def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20038800/ "DO"]
synonym: "antibody deficiency due to CD20 defect" EXACT []
synonym: "CVID5" EXACT []
xref: MIM:613495
is_a: DOID:12177 ! common variable immunodeficiency
created_by: mtutaj
creation_date: 2022-08-29T13:59:54Z

[Term]
id: DOID:0081149
name: common variable immunodeficiency 6
alt_id: DOID:9002131
def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20237408/ "DO"]
synonym: "ANTIBODY DEFICIENCY DUE TO CD81 DEFECT" EXACT []
synonym: "CVID6" EXACT []
xref: MIM:613496
is_a: DOID:12177 ! common variable immunodeficiency
created_by: mtutaj
creation_date: 2022-08-29T14:01:01Z

[Term]
id: DOID:0081150
name: common variable immunodeficiency 7
alt_id: DOID:9008846
def: "A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22035880/ "DO"]
synonym: "CR2-related condition" BROAD []
synonym: "CVID7" EXACT []
xref: MIM:614699
xref: MONDO:0013862
is_a: DOID:12177 ! common variable immunodeficiency
created_by: mtutaj
creation_date: 2022-08-29T14:02:03Z

[Term]
id: DOID:0081151
name: common variable immunodeficiency 8
alt_id: DOID:9003811
def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25468195/ "DO"]
synonym: "common variable immunodeficiency-8 (CVID8) with autoimmunity" EXACT []
synonym: "Common Variable Immunodeficiency 8, with Autoimmunity" EXACT []
synonym: "CVID8" EXACT []
xref: MIM:614700
is_a: DOID:12177 ! common variable immunodeficiency
created_by: mtutaj
creation_date: 2022-08-29T14:03:20Z

[Term]
id: DOID:0081152
name: common variable immunodeficiency 10
alt_id: DOID:9000689
def: "A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24140114/ "DO"]
synonym: "common variable immunodeficiency with central adrenal insufficiency" EXACT []
synonym: "CVID10" EXACT []
synonym: "DAVID" EXACT []
synonym: "deficit in anterior pituitary function and variable immunodeficiency" EXACT []
xref: MIM:615577
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12177 ! common variable immunodeficiency
created_by: mtutaj
creation_date: 2022-08-29T14:04:28Z

[Term]
id: DOID:0081153
name: common variable immunodeficiency 11
alt_id: DOID:9005947
def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24746753/ "DO"]
synonym: "CVID11" EXACT []
xref: MIM:615767
is_a: DOID:12177 ! common variable immunodeficiency
created_by: mtutaj
creation_date: 2022-08-29T14:05:42Z

[Term]
id: DOID:0081154
name: common variable immunodeficiency 12
alt_id: DOID:9008356
def: "A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32278790/ "DO"]
synonym: "CVID12" EXACT []
synonym: "NFKB1 deficiency" EXACT []
synonym: "NFKB1-RELATED CONDITION" EXACT []
xref: MIM:616576
is_a: DOID:12177 ! common variable immunodeficiency
created_by: mtutaj
creation_date: 2022-08-29T14:06:36Z

[Term]
id: DOID:0081155
name: common variable immunodeficiency 13
alt_id: DOID:9008141
def: "A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26981933/ "DO"]
synonym: "CVID13" EXACT []
synonym: "IKZF1-RELATED CONDITION" EXACT []
xref: MIM:616873
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12177 ! common variable immunodeficiency
created_by: mtutaj
creation_date: 2022-08-29T14:07:48Z

[Term]
id: DOID:0081156
name: common variable immunodeficiency 14
alt_id: DOID:9009071
def: "A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27016798/ "DO"]
synonym: "CVID14" EXACT []
synonym: "IRF2BP2-RELATED CONDITION" EXACT []
xref: MIM:617765
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12177 ! common variable immunodeficiency
created_by: mtutaj
creation_date: 2022-08-29T14:09:01Z

[Term]
id: DOID:0081157
name: dilated cardiomyopathy 1LL
alt_id: DOID:9000215
alt_id: DOID:9008472
def: "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23768516/ "DO"]
synonym: "CMD1LL" EXACT []
synonym: "Left Ventricular Noncompaction 8" RELATED []
synonym: "LVNC8" RELATED []
synonym: "PRDM16-RELATED CONDITION" EXACT []
synonym: "PRDM16-RELATED CONGENITAL HEART DISEASE" EXACT []
xref: MIM:615373
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9000497 ! Dilated Cardiomyopathy with Left Ventricular Noncompaction
created_by: mtutaj
creation_date: 2022-08-29T14:11:15Z

[Term]
id: DOID:0081158
name: dilated cardiomyopathy 1MM
alt_id: DOID:9008209
def: "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21551322/ "DO"]
synonym: "CMD1MM" EXACT []
synonym: "Left Ventricular Noncompaction 10" EXACT []
synonym: "LVNC10" EXACT []
synonym: "MYBPC3-RELATED CONDITION" BROAD []
xref: MIM:615396
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9000497 ! Dilated Cardiomyopathy with Left Ventricular Noncompaction
created_by: mtutaj
creation_date: 2022-08-29T14:15:51Z

[Term]
id: DOID:0081159
name: dilated cardiomyopathy 2C
alt_id: DOID:9006747
def: "A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29754768/ "DO"]
synonym: "CMD2C" EXACT []
xref: MIM:618189
xref: NCI:C186785
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12930 ! dilated cardiomyopathy
created_by: mtutaj
creation_date: 2022-08-29T14:21:35Z

[Term]
id: DOID:0081160
name: dilated cardiomyopathy 2D
alt_id: DOID:9003609
def: "A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32514796/ "DO"]
synonym: "CMD2D" EXACT []
xref: MIM:619371
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12930 ! dilated cardiomyopathy
created_by: mtutaj
creation_date: 2022-08-29T14:23:17Z

[Term]
id: DOID:0081161
name: dilated cardiomyopathy 2E
alt_id: DOID:9006126
def: "A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30384889/ "DO", https://pubmed.ncbi.nlm.nih.gov/31227780/ "DO"]
synonym: "CMD2E" EXACT []
synonym: "JPH2-RELATED CONDITION" BROAD []
xref: MIM:619492
xref: MONDO:0030366
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12930 ! dilated cardiomyopathy
created_by: mtutaj
creation_date: 2022-08-29T14:24:29Z

[Term]
id: DOID:0081162
name: dilated cardiomyopathy 2F
alt_id: DOID:9000042
def: "A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35044787/ "DO"]
synonym: "CMD2F" EXACT []
xref: MIM:619747
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12930 ! dilated cardiomyopathy
created_by: mtutaj
creation_date: 2022-08-29T14:25:26Z

[Term]
id: DOID:0081163
name: dilated cardiomyopathy 2G
alt_id: DOID:9002218
def: "A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31517052/ "DO"]
synonym: "CMD2G" EXACT []
xref: MIM:619897
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12930 ! dilated cardiomyopathy
created_by: mtutaj
creation_date: 2022-08-29T14:26:39Z

[Term]
id: DOID:0081168
name: HMG-CoA synthase 2 deficiency
alt_id: DOID:9003547
alt_id: MIM:605911
def: "An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16601895/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979369/ "DO"]
synonym: "3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency" EXACT []
synonym: "HMGCS2D" EXACT []
synonym: "HMGCS2 Deficiency" EXACT []
synonym: "MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY" EXACT []
synonym: "Mitochondrial HMG-CoA Synthase Deficiency" EXACT []
xref: GARD:2712
xref: MESH:C567784
xref: ORDO:35701
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9252 ! amino acid metabolic disorder
is_a: DOID:9993 ! hypoglycemia
created_by: mtutaj
creation_date: 2022-08-29T14:34:21Z

[Term]
id: DOID:0081169
name: Leber congenital amaurosis 19
alt_id: DOID:9008659
def: "A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3057356/ "DO"]
synonym: "LCA19" EXACT []
xref: MIM:618513
is_a: DOID:14791 ! Leber congenital amaurosis
created_by: mtutaj
creation_date: 2022-08-29T14:37:11Z

[Term]
id: DOID:0081175
name: short stature, hearing loss, retinitis pigmentosa, and distinctive facies
alt_id: DOID:9009102
def: "A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26843489/ "DO", https://pubmed.ncbi.nlm.nih.gov/34162742/ "DO"]
synonym: "SHRF" EXACT []
xref: MIM:617763
xref: ORDO:494439
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9007661 ! Dwarfism
created_by: mtutaj
creation_date: 2022-08-29T14:39:09Z

[Term]
id: DOID:0081176
name: hypotonia, ataxia, and delayed development syndrome
alt_id: DOID:9003925
def: "A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28017370/ "DO", https://pubmed.ncbi.nlm.nih.gov/34367240/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK570204/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9092656/ "DO"]
synonym: "EBF3-RELATED DISORDER" EXACT []
synonym: "HADDS" EXACT []
xref: MIM:617330
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2022-08-29T14:40:58Z

[Term]
id: DOID:0081177
name: autosomal recessive intellectual developmental disorder 1
alt_id: DOID:9008608
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12459588/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 1" EXACT []
synonym: "mental retardation, autosomal recessive 1" EXACT []
synonym: "MRT1" EXACT []
xref: MESH:C565406
xref: MIM:249500
xref: MONDO:0081177
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T14:42:55Z

[Term]
id: DOID:0081178
name: autosomal recessive intellectual developmental disorder 2
alt_id: DOID:9008771
alt_id: MIM:607417
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28143899/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 2" EXACT []
synonym: "Mental Retardation, Autosomal Recessive 2A" EXACT []
synonym: "MRT2" EXACT []
synonym: "MRT2A" EXACT []
xref: MESH:C564404
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T14:45:28Z

[Term]
id: DOID:0081179
name: autosomal recessive intellectual developmental disorder 3
alt_id: DOID:9003376
alt_id: MIM:608443
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16033914/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 3" EXACT []
synonym: "mental retardation, autosomal recessive 3" EXACT []
synonym: "MRT3" EXACT []
xref: MESH:C563929
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T14:46:38Z

[Term]
id: DOID:0081180
name: autosomal recessive intellectual developmental disorder 12
alt_id: DOID:9007060
alt_id: MIM:611090
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32666583/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 12" EXACT []
synonym: "Mental Retardation, Autosomal Recessive 12" EXACT []
synonym: "MRT12" EXACT []
xref: MESH:C567019
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T14:48:08Z

[Term]
id: DOID:0081181
name: autosomal recessive intellectual developmental disorder 5
alt_id: DOID:9000480
alt_id: MIM:611091
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22541559/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 5" EXACT []
synonym: "Mental Retardation, Autosomal Recessive 5" EXACT []
synonym: "MRT5" EXACT []
xref: MESH:C567018
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T14:49:21Z

[Term]
id: DOID:0081182
name: autosomal recessive intellectual developmental disorder 6
alt_id: DOID:9001405
alt_id: MIM:611092
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25039795/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 6" EXACT []
synonym: "MRT6" EXACT []
xref: MESH:C567017
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T14:50:24Z

[Term]
id: DOID:0081183
name: autosomal recessive intellectual developmental disorder 7
alt_id: DOID:9008725
alt_id: MIM:611093
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27148795/ "DO"]
synonym: "intellectual developmental disorder 22" EXACT []
synonym: "mental retardation, autosomal recessive 22" EXACT []
synonym: "mental retardation, autosomal recessive 7" EXACT []
synonym: "MRT22" EXACT []
synonym: "MRT7" EXACT []
xref: MESH:C567016
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T14:51:22Z

[Term]
id: DOID:0081184
name: autosomal recessive intellectual developmental disorder 9/26
alt_id: DOID:9007034
alt_id: MIM:611095
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"]
synonym: "intellectual developmental disorder, autosomal recessive 26" EXACT []
synonym: "Intellectual Developmental Disorder, Autosomal Recessive 9" EXACT []
synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 26" EXACT []
synonym: "mental retardation, autosomal recessive 9" EXACT []
synonym: "MRT26" EXACT []
synonym: "MRT9" EXACT []
xref: MESH:C567014
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T14:52:46Z

[Term]
id: DOID:0081185
name: autosomal recessive intellectual developmental disorder 10/20
alt_id: DOID:9001021
alt_id: MIM:611096
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"]
synonym: "Intellectual Developmental Disorder, Autosomal Recessive 10" EXACT []
synonym: "intellectual developmental disorder, autosomal recessive 20" EXACT []
synonym: "mental retardation, autosomal recessive 10" EXACT []
synonym: "mental retardation, autosomal recessive 20" EXACT []
synonym: "MRT10" EXACT []
synonym: "MRT20" EXACT []
xref: MESH:C567013
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T14:54:41Z

[Term]
id: DOID:0081186
name: autosomal recessive intellectual developmental disorder 11
alt_id: DOID:9004731
alt_id: MIM:611097
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21063731/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 11" EXACT []
synonym: "MRT11" EXACT []
xref: MESH:C567012
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T14:55:54Z

[Term]
id: DOID:0081187
name: autosomal recessive intellectual developmental disorder 4
alt_id: DOID:9004517
alt_id: MIM:611107
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17309643/ "DO"]
synonym: "mental retardation, autosomal recessive 4" EXACT []
synonym: "MRT4" EXACT []
xref: MESH:C567008
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T14:56:55Z

[Term]
id: DOID:0081188
name: autosomal recessive intellectual developmental disorder 14
alt_id: DOID:9006531
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18446860/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 14" EXACT []
synonym: "mental retardation, autosomal recessive 14" EXACT []
synonym: "MRT14" EXACT []
xref: MIM:614020
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T14:58:02Z

[Term]
id: DOID:0081189
name: autosomal recessive intellectual developmental disorder 16
alt_id: DOID:9006389
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20345473/ "DO"]
synonym: "mental retardation, autosomal recessive 16" EXACT []
synonym: "MRT16" EXACT []
xref: MIM:614208
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T14:59:05Z

[Term]
id: DOID:0081190
name: autosomal recessive intellectual developmental disorder 18
alt_id: DOID:9003792
def: "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25845469/ "DO"]
synonym: "Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 18" EXACT []
synonym: "Mental Retardation, Autosomal Recessive 18" EXACT []
synonym: "MRT18" EXACT []
xref: MIM:614249
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:00:36Z

[Term]
id: DOID:0081191
name: autosomal recessive intellectual developmental disorder 31
alt_id: DOID:9000969
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21063731/ "DO"]
synonym: "mental retardation, autosomal recessive 31" EXACT []
synonym: "MRT31" EXACT []
xref: MIM:614329
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:01:33Z

[Term]
id: DOID:0081192
name: autosomal recessive intellectual developmental disorder 29
alt_id: DOID:9007545
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21063731/ "DO"]
synonym: "mental retardation, autosomal recessive 29" EXACT []
synonym: "MRT29" EXACT []
xref: MIM:614333
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:02:30Z

[Term]
id: DOID:0081193
name: autosomal recessive intellectual developmental disorder 27
alt_id: DOID:9004788
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23773660/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 27" EXACT []
synonym: "MRT27" EXACT []
xref: MIM:614340
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:04:08Z

[Term]
id: DOID:0081194
name: autosomal recessive intellectual developmental disorder 33
alt_id: DOID:9001853
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21063731/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 33" EXACT []
synonym: "MRT33" EXACT []
xref: MIM:614341
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:05:17Z

[Term]
id: DOID:0081195
name: autosomal recessive intellectual developmental disorder 30
alt_id: DOID:9005012
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"]
synonym: "mental retardation, autosomal recessive 30" EXACT []
synonym: "MRT30" EXACT []
xref: MIM:614342
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:06:09Z

[Term]
id: DOID:0081196
name: autosomal recessive intellectual developmental disorder 23
alt_id: DOID:9003500
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"]
synonym: "mental retardation, autosomal recessive 23" EXACT []
synonym: "MRT23" EXACT []
xref: MIM:614344
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:07:08Z

[Term]
id: DOID:0081197
name: autosomal recessive intellectual developmental disorder 24
alt_id: DOID:9006322
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in inkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"]
synonym: "mental retardation, autosomal recessive 24" EXACT []
synonym: "MRT24" EXACT []
xref: MIM:614345
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:07:57Z

[Term]
id: DOID:0081198
name: autosomal recessive intellectual developmental disorder 25
alt_id: DOID:9002478
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"]
synonym: "mental retardation, autosomal recessive 25" EXACT []
synonym: "MRT25" EXACT []
xref: MIM:614346
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:09:08Z

[Term]
id: DOID:0081199
name: autosomal recessive intellectual developmental disorder 28
alt_id: DOID:9006558
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 28" EXACT []
synonym: "MRT28" EXACT []
xref: MIM:614347
xref: MONDO:0032665
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:09:58Z

[Term]
id: DOID:0081200
name: autosomal recessive intellectual developmental disorder 34
alt_id: DOID:9003186
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27773430/ "DO"]
synonym: "autosomal recessive intellectual developmental disorder 34 with variant lissencephaly" EXACT []
synonym: "autosomal recessive mental retardation 34 with variant lissencephaly" EXACT []
synonym: "MRT34" EXACT []
xref: MIM:614499
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:26:42Z

[Term]
id: DOID:0081201
name: autosomal recessive intellectual developmental disorder 35
alt_id: DOID:9002452
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20950399/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 35" EXACT []
synonym: "MRT35" EXACT []
xref: MIM:615162
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:29:51Z

[Term]
id: DOID:0081202
name: autosomal recessive intellectual developmental disorder 37
alt_id: DOID:9006993
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29302074/ "DO"]
synonym: "ANK3-RELATED CONDITION" EXACT []
synonym: "INTELLECTUAL DISABILITY-HYPOTONIA-SPASTICITY-SLEEP DISORDER SYNDROME" EXACT []
synonym: "mental retardation, autosomal recessive 37" EXACT []
synonym: "MRT37" EXACT []
xref: MIM:615493
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:30:49Z

[Term]
id: DOID:0081203
name: autosomal recessive intellectual developmental disorder 38
alt_id: DOID:9007435
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23243086/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 38" EXACT []
synonym: "MRT38" EXACT []
xref: MIM:615516
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:32:15Z

[Term]
id: DOID:0081204
name: autosomal recessive intellectual developmental disorder 39
alt_id: DOID:9007449
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23956177/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 39" EXACT []
synonym: "MRT39" EXACT []
synonym: "SEVERE INTELLECTUAL DISABILITY-SHORT STATURE-BEHAVIORAL ABNORMALITIES-FACIAL DYSMORPHISM SYNDROME" EXACT []
xref: MIM:615541
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:33:08Z

[Term]
id: DOID:0081205
name: autosomal recessive intellectual developmental disorder 40
alt_id: DOID:9006330
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34474177/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 40" EXACT []
synonym: "MRT40" EXACT []
synonym: "NEDFCF" EXACT []
synonym: "neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity" EXACT []
xref: MIM:615599
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:34:01Z

[Term]
id: DOID:0081206
name: autosomal recessive intellectual developmental disorder 41
alt_id: DOID:9007613
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25847626/ "DO"]
synonym: "MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME" EXACT []
synonym: "mental retardation, autosomal recessive 41" EXACT []
synonym: "MRT41" EXACT []
xref: MIM:615637
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:34:53Z

[Term]
id: DOID:0081207
name: autosomal recessive intellectual developmental disorder 43
alt_id: DOID:9006908
def: "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34599609/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 43" EXACT []
synonym: "Mental Retardation, Autosomal Recessive 43" EXACT []
synonym: "MRT43" EXACT []
xref: MIM:615817
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:35:54Z

[Term]
id: DOID:0081208
name: autosomal recessive intellectual developmental disorder 44
alt_id: DOID:9006200
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32439618/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 44" EXACT []
synonym: "mental retardation, autosomal recessive 44" EXACT []
synonym: "MRT44" EXACT []
xref: MIM:615942
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:36:43Z

[Term]
id: DOID:0081209
name: autosomal recessive intellectual developmental disorder 45
alt_id: DOID:9000560
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24623383/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 45" EXACT []
synonym: "mental retardation, autosomal recessive 45" EXACT []
synonym: "MRT45" EXACT []
xref: MIM:615979
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:37:39Z

[Term]
id: DOID:0081210
name: autosomal recessive intellectual developmental disorder 46
alt_id: DOID:9004558
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25125150/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 46" EXACT []
synonym: "mental retardation, autosomal recessive 46" EXACT []
synonym: "MRT46" EXACT []
xref: MIM:616116
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:38:31Z

[Term]
id: DOID:0081211
name: autosomal recessive intellectual developmental disorder 47
alt_id: DOID:9008226
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25480035/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 47" EXACT []
synonym: "Mental Retardation, Autosomal Recessive 47" EXACT []
synonym: "MRT47" EXACT []
xref: MIM:616193
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:39:18Z

[Term]
id: DOID:0081212
name: autosomal recessive intellectual developmental disorder 48
alt_id: DOID:9007512
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25704603/ "DO"]
synonym: "mental retardation, autosomal recessive 48" EXACT []
synonym: "MRT48" EXACT []
synonym: "PROGRESSIVE ESSENTIAL TREMOR-SPEECH IMPAIRMENT-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY-ABNORMAL BEHAVIOR SYNDROME" EXACT []
xref: MIM:616269
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:40:12Z

[Term]
id: DOID:0081213
name: autosomal recessive intellectual developmental disorder 50
alt_id: DOID:9001618
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25701870/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 50" EXACT []
synonym: "Mental Retardation, Autosomal Recessive 50" EXACT []
synonym: "MRT50" EXACT []
xref: MIM:616460
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:41:05Z

[Term]
id: DOID:0081214
name: autosomal recessive intellectual developmental disorder 51
alt_id: DOID:9000167
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26206890/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 51" EXACT []
synonym: "MRT51" EXACT []
xref: MIM:616739
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:42:03Z

[Term]
id: DOID:0081215
name: autosomal recessive intellectual developmental disorder 52
alt_id: DOID:9005239
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26566883/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 52" EXACT []
synonym: "Mental Retardation, Autosomal Recessive 52" EXACT []
synonym: "MRT52" EXACT []
xref: MIM:616887
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:42:53Z

[Term]
id: DOID:0081216
name: autosomal recessive intellectual developmental disorder 54
alt_id: DOID:9004737
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27106596/ "DO"]
synonym: "intellectual developmental disorder 54" EXACT []
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 54" EXACT []
synonym: "Mental Retardation, Autosomal Recessive 54" EXACT []
synonym: "MRT54" EXACT []
xref: MIM:617028
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:43:43Z

[Term]
id: DOID:0081217
name: autosomal recessive intellectual developmental disorder 56
alt_id: DOID:9004639
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21734151/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 56" EXACT []
synonym: "MRT56" EXACT []
xref: MIM:617125
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:44:58Z

[Term]
id: DOID:0081218
name: autosomal recessive intellectual developmental disorder 74
def: "An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33161245/ "DO"]
synonym: "intellectual developmental disorder, autosomal recessive 74" EXACT []
synonym: "MRT74" EXACT []
xref: MIM:617169
xref: MONDO:0014951
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:45:51Z

[Term]
id: DOID:0081219
name: autosomal recessive intellectual developmental disorder 57
alt_id: DOID:9003051
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27616480/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 57" EXACT []
synonym: "MRT57" EXACT []
xref: MIM:617188
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:49:20Z

[Term]
id: DOID:0081220
name: autosomal recessive intellectual developmental disorder 58
alt_id: DOID:9000513
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33976153/ "DO"]
synonym: "ELP2-RELATED DISORDERS" EXACT []
synonym: "Mental Retardation, Autosomal Recessive 58" EXACT []
synonym: "MRT58" EXACT []
xref: MIM:617270
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:50:20Z

[Term]
id: DOID:0081221
name: autosomal recessive intellectual developmental disorder 59
alt_id: DOID:9007035
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26416544/ "DO"]
synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 59" EXACT []
synonym: "mental retardation, autosomal recessive 59" EXACT []
synonym: "MRT59" EXACT []
xref: MIM:617323
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:51:51Z

[Term]
id: DOID:0081222
name: autosomal recessive intellectual developmental disorder 60
alt_id: DOID:9005093
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28257693/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 60" EXACT []
synonym: "MRT60" EXACT []
xref: MIM:617432
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:52:40Z

[Term]
id: DOID:0081223
name: glycosylphosphatidylinositol biosynthesis defect 16
alt_id: DOID:9009068
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27694521/ "DO"]
synonym: "Intellectual developmental disorder, autosomal recessive 62" EXACT []
synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62" EXACT []
synonym: "MRT62" EXACT []
xref: MIM:617816
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
created_by: mtutaj
creation_date: 2022-08-29T15:54:11Z

[Term]
id: DOID:0081224
name: autosomal recessive intellectual developmental disorder 63
alt_id: DOID:9009215
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29784083/ "DO"]
synonym: "mental retardation, autosomal recessive 63" EXACT []
synonym: "MRT63" EXACT []
xref: MIM:618095
xref: MONDO:0054861
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:56:08Z

[Term]
id: DOID:0081225
name: autosomal recessive intellectual developmental disorder 64
alt_id: DOID:9009216
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28837161/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 64" EXACT []
synonym: "MRT64" EXACT []
xref: MIM:618103
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:57:14Z

[Term]
id: DOID:0081226
name: autosomal recessive intellectual developmental disorder 65
alt_id: DOID:9004428
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29276005/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 65" EXACT []
synonym: "MRT65" EXACT []
xref: MIM:618109
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:58:11Z

[Term]
id: DOID:0081227
name: autosomal recessive intellectual developmental disorder 66
alt_id: DOID:9009242
def: "An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27311568/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 66" EXACT []
synonym: "MRT66" EXACT []
xref: MIM:618221
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T15:59:06Z

[Term]
id: DOID:0081228
name: autosomal recessive intellectual developmental disorder 67
alt_id: DOID:9002440
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30409806/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 67" EXACT []
synonym: "MRT67" EXACT []
xref: MIM:618295
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T16:00:11Z

[Term]
id: DOID:0081229
name: autosomal recessive intellectual developmental disorder 68
alt_id: DOID:9006641
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30289604/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 68" EXACT []
synonym: "MRT68" EXACT []
xref: MIM:618302
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T16:01:04Z

[Term]
id: DOID:0081230
name: autosomal recessive intellectual developmental disorder 69
alt_id: DOID:9005345
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29893856/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 69" EXACT []
synonym: "MRT69" EXACT []
synonym: "NEDMCB" EXACT []
synonym: "NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES, COGNITIVE DECLINE, AND BRAIN ABNORMALITIES" EXACT []
xref: MIM:618383
xref: MONDO:0032715
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T16:02:11Z

[Term]
id: DOID:0081231
name: autosomal recessive intellectual developmental disorder 70
alt_id: DOID:9009079
def: "An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28640246/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 70" EXACT []
synonym: "MRT70" EXACT []
xref: MIM:618402
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T16:03:15Z

[Term]
id: DOID:0081232
name: autosomal recessive intellectual developmental disorder 71
alt_id: DOID:9000328
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31079898/ "DO"]
synonym: "autosomal recessive mental retardation 71" EXACT []
synonym: "MRT71" EXACT []
xref: EFO:0010280
xref: MIM:618504
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T16:04:15Z

[Term]
id: DOID:0081233
name: autosomal recessive intellectual developmental disorder 73
alt_id: DOID:9006469
def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34230638/ "DO"]
synonym: "MRT73" EXACT []
xref: MIM:619717
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: mtutaj
creation_date: 2022-08-29T16:05:08Z

[Term]
id: DOID:0081234
name: autosomal recessive intellectual developmental disorder 75
alt_id: DOID:9001728
def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34163010/ "DO"]
synonym: "Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly" EXACT []
synonym: "MRT75" EXACT []
synonym: "PIDD1-ASSOCIATED NEURODEVELOPMENTAL DISORDER" EXACT []
synonym: "PIDD1 RELATED DISORDER" EXACT []
xref: MIM:619827
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T16:07:37Z

[Term]
id: DOID:0081235
name: autosomal recessive intellectual developmental disorder 76
alt_id: DOID:9000317
def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35675825/ "DO"]
synonym: "Mental Retardation, Autosomal Recessive 76" EXACT []
synonym: "MRT76" EXACT []
xref: MIM:619931
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T16:08:47Z

[Term]
id: DOID:0081236
name: autosomal recessive intellectual developmental disorder 77
alt_id: DOID:9008047
def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34196201/ "DO"]
synonym: "MRT77" EXACT []
xref: MIM:619988
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-08-29T16:09:36Z

[Term]
id: DOID:0081237
name: acromesomelic dysplasia-3
alt_id: DOID:9005796
alt_id: MIM:609441
def: "An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26105076/ "DO"]
synonym: "acromesomelic chondrodysplasia, with genital anomalies" EXACT []
synonym: "acromesomelic chondrodysplasia with or without genital anomalies" EXACT []
synonym: "acromesomelic dysplasia, Demirhan type" EXACT []
synonym: "AMD3" EXACT []
synonym: "AMDD" EXACT []
xref: MESH:C537913
is_a: DOID:0080049 ! acromesomelic dysplasia
is_a: DOID:1100 ! ovarian disease
is_a: DOID:9006294 ! Congenital Limb Deformities
created_by: mtutaj
creation_date: 2022-08-29T16:11:13Z

[Term]
id: DOID:0081238
name: acromesomelic dysplasia-4
alt_id: DOID:9000536
def: "An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33106379/ "DO"]
synonym: "AMD4" EXACT []
xref: MIM:619636
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080049 ! acromesomelic dysplasia
created_by: mtutaj
creation_date: 2022-08-29T16:12:32Z

[Term]
id: DOID:0081239
name: injection anthrax
def: "An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29533547/ "DO", https://www.cdc.gov/anthrax/basics/types/index.html "DO"]
synonym: "injectional anthrax" EXACT []
synonym: "injectional anthrax syndrome" EXACT []
is_a: DOID:7427 ! anthrax disease
created_by: mtutaj
creation_date: 2022-08-29T16:13:46Z

[Term]
id: DOID:0081240
name: peroxisome biogenesis disorder 1B
def: "A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO", https://pubmed.ncbi.nlm.nih.gov/28523433/ "DO"]
synonym: "PBD1B" EXACT []
xref: MIM:601539
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
created_by: mtutaj
creation_date: 2022-09-30T10:20:32Z

[Term]
id: DOID:0081241
name: peroxisome biogenesis disorder 3B
alt_id: DOID:9009157
def: "A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"]
synonym: "PDB3B" EXACT []
synonym: "Peroxisomal Biogenesis Disorder 3B" EXACT []
synonym: "PEROXISOME BIOGENESIS DISORDER TYPE 3B" EXACT []
xref: MIM:266510
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
created_by: mtutaj
creation_date: 2022-09-30T12:45:13Z

[Term]
id: DOID:0081242
name: autoimmune interstitial lung, joint, and kidney disease
alt_id: DOID:9007760
def: "A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25894502/ "DO", https://rarediseases.org/rare-diseases/copa-syndrome/ "DO"]
synonym: "AILJK" EXACT []
synonym: "Autoimmune interstitial lung disease-arthritis syndrome" EXACT []
synonym: "COPA syndrome" EXACT []
xref: MIM:616414
xref: ORDO:444092
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:381 ! arthropathy
is_a: DOID:417 ! autoimmune disease
is_a: DOID:557 ! kidney disease
is_a: DOID:848 ! arthritis
created_by: mtutaj
creation_date: 2022-09-30T12:50:11Z

[Term]
id: DOID:0081243
name: rhizomelic chondrodysplasia punctate type 4
alt_id: DOID:9001854
def: "A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28523433/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471318/ "DO"]
synonym: "FAR1-RELATED NEURODEVELOPMENTAL DISORDER" BROAD []
synonym: "Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder" EXACT []
synonym: "PFCRD" EXACT []
xref: MIM:616154
xref: ORDO:438178
is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata
is_a: DOID:3146 ! lipid metabolism disorder
created_by: mtutaj
creation_date: 2022-09-30T12:55:04Z

[Term]
id: DOID:0081244
name: pituitary blastoma
def: "A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35291028/ "DO"]
synonym: "pituitary gland blastoma" EXACT []
xref: ICDO:8273/3
xref: NCI:C155304
is_a: DOID:0070003 ! blastoma
is_a: DOID:1785 ! pituitary cancer
created_by: mtutaj
creation_date: 2022-09-30T13:02:05Z

[Term]
id: DOID:0081245
name: cauda equina neuroendocrine tumor
def: "A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. (DO)" [https://radiopaedia.org/articles/spinal-neuroendocrine-tumour?lang=us "DO"]
synonym: "Cauda equina neuroendocrine tumour" EXACT []
synonym: "Spinal neuroendocrine tumors" EXACT []
xref: ICDO:8693/3
xref: NCI:C5324
is_a: DOID:4847 ! cauda equina neoplasm
created_by: mtutaj
creation_date: 2022-09-30T13:08:49Z

[Term]
id: DOID:0081246
name: teratoma with somatic-type malignancy
def: "A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874974/ "DO"]
xref: EFO:1000563
xref: ICDO:9084/3
xref: NCI:C4289
is_a: DOID:3307 ! teratoma
created_by: mtutaj
creation_date: 2022-09-30T17:42:05Z

[Term]
id: DOID:0081247
name: dedifferentiated chondrosarcoma
def: "A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34734747/ "DO"]
synonym: "DDC" EXACT []
xref: EFO:0000394
xref: ICDO:9243/3
xref: NCI:C6476
is_a: DOID:3371 ! chondrosarcoma
created_by: mtutaj
creation_date: 2022-09-30T17:45:23Z

[Term]
id: DOID:0081248
name: pineocytoma
def: "An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. (DO)" [https://rarediseases.org/gard-rare-disease/pineocytoma/ "DO"]
xref: EFO:1000476
xref: ICDO:9361/1
xref: NCI:C6966
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:9005957 ! Pinealoma
created_by: mtutaj
creation_date: 2022-09-30T20:24:21Z

[Term]
id: DOID:0081249
name: EWSR1-negative small round cell tumor
def: "A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28346326/ "DO"]
synonym: "EWSR1-Negative Small Blue Round Cell Tumor" EXACT []
xref: NCI:C165671
is_a: DOID:3098 ! small cell sarcoma
created_by: mtutaj
creation_date: 2022-09-30T21:01:23Z

[Term]
id: DOID:0081250
name: CIC-rearranged sarcoma
alt_id: DOID:9007982
def: "An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31288305/ "DO", https://pubmed.ncbi.nlm.nih.gov/32796172/ "DO", https://pubmed.ncbi.nlm.nih.gov/33680459/ "DO"]
synonym: "Capicua transcriptional repressor (CIC)-rearranged sarcoma" EXACT []
synonym: "CIC-DUX SARCOMA" EXACT []
xref: ICDO:9367/3
xref: NCI:C120224
is_a: DOID:0081249 ! EWSR1-negative small round cell tumor
created_by: mtutaj
creation_date: 2022-09-30T21:08:09Z

[Term]
id: DOID:0081251
name: papillary tumor of the pineal region
alt_id: DOID:9001675
def: "A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29691144/ "DO"]
synonym: "Papillary tumour of the pineal region" EXACT []
synonym: "PTPR" EXACT []
xref: EFO:1000451
xref: ICDO:9395/3
xref: NCI:C92624
is_a: DOID:5032 ! pineal gland cancer
is_a: DOID:9005957 ! Pinealoma
created_by: mtutaj
creation_date: 2022-09-30T21:11:16Z

[Term]
id: DOID:0081252
name: supratentorial ependymoma, ZFTA fusion-positive
is_a: DOID:0080890 ! supratentorial ependymoma
created_by: mtutaj
creation_date: 2022-09-30T21:13:51Z

[Term]
id: DOID:0081253
name: supratentorial ependymoma, YAP1 fusion-positive
is_a: DOID:0080890 ! supratentorial ependymoma
created_by: mtutaj
creation_date: 2022-09-30T21:15:35Z

[Term]
id: DOID:0081254
name: posterior fossa group A ependymoma
def: "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29909548/ "DO"]
synonym: "Posterior fossa group A (PFA) ependymoma" EXACT []
xref: NCI:C186450
is_a: DOID:0080889 ! posterior fossa ependymoma
created_by: mtutaj
creation_date: 2022-09-30T21:18:42Z

[Term]
id: DOID:0081255
name: posterior fossa group B ependymoma
def: "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33902636/ "DO"]
synonym: "Posterior fossa group B (PFB) ependymoma" EXACT []
xref: NCI:C186451
is_a: DOID:0080889 ! posterior fossa ependymoma
created_by: mtutaj
creation_date: 2022-09-30T21:19:59Z

[Term]
id: DOID:0081256
name: astrocytoma, IDH-mutant, grade 2
def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35902341/ "DO"]
xref: ICDO:9400/3
xref: NCI:C129271
is_a: DOID:0080875 ! IDH-mutant anaplastic astrocytoma
created_by: mtutaj
creation_date: 2022-09-30T21:21:00Z

[Term]
id: DOID:0081257
name: astrocytoma, IDH-mutant, grade 3
def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34377594/ "DO"]
xref: ICDO:9401/3
xref: NCI:C129290
is_a: DOID:0080875 ! IDH-mutant anaplastic astrocytoma
created_by: mtutaj
creation_date: 2022-09-30T21:22:26Z

[Term]
id: DOID:0081259
name: desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma
def: "A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31223403/ "DO", https://pubmed.ncbi.nlm.nih.gov/35015431/ "DO"]
synonym: "desmoplastic infantile astrocytoma" EXACT []
synonym: "desmoplastic infantile ganglioglioma" EXACT []
synonym: "desmoplastic infantile ganglioglioma and desmoplastic infantile astrocytoma" EXACT []
xref: ICDO:9412/1
xref: NCI:C4738
xref: NCI:C9476
is_a: DOID:5078 ! ganglioglioma
created_by: mtutaj
creation_date: 2022-09-30T21:24:40Z

[Term]
id: DOID:0081260
name: diffuse low-grade glioma, MAPK pathway-altered
is_a: DOID:0080829 ! low grade glioma
created_by: mtutaj
creation_date: 2022-09-30T21:26:45Z

[Term]
id: DOID:0081261
name: angiocentric glioma
def: "A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34863434/ "DO"]
xref: ICDO:9431/1
xref: NCI:C92552
is_a: DOID:0080829 ! low grade glioma
created_by: mtutaj
creation_date: 2022-09-30T21:33:07Z

[Term]
id: DOID:0081262
name: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
alt_id: DOID:9004184
def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34314705/ "DO"]
synonym: "IDDHISD" EXACT []
synonym: "TNPO2-RELATED CONDITION" EXACT []
xref: MIM:619556
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:9001487 ! Facies
is_a: DOID:9005466 ! Language Development Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: mtutaj
creation_date: 2022-10-31T14:50:57Z

[Term]
id: DOID:0081263
name: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
alt_id: DOID:9002308
def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35861185/ "DO"]
synonym: "NEDMCR" EXACT []
synonym: "NEDMCR syndrome" EXACT []
xref: MIM:617913
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:10907 ! microcephaly
is_a: DOID:557 ! kidney disease
is_a: DOID:83 ! cataract
created_by: mtutaj
creation_date: 2022-10-31T14:54:13Z

[Term]
id: DOID:0081264
name: developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome
def: "A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). (DO)" [https://pubmed.ncbi.nlm.nih.gov/33474647/ "DO"]
is_a: DOID:225 ! syndrome
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2022-10-31T14:57:38Z

[Term]
id: DOID:0081265
name: intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
alt_id: DOID:9009109
def: "An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31583274/ "DO", https://pubmed.ncbi.nlm.nih.gov/35144859/ "DO"]
synonym: "IDDABS" EXACT []
synonym: "IDDBAS" EXACT []
xref: MIM:618342
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:10907 ! microcephaly
is_a: DOID:9007661 ! Dwarfism
created_by: mtutaj
creation_date: 2022-10-31T15:01:55Z

[Term]
id: DOID:0081266
name: pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
alt_id: DOID:9007846
def: "A lissencephaly that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31630790/ "DO", https://pubmed.ncbi.nlm.nih.gov/36078134/ "DO"]
synonym: "CDCBM15" EXACT []
synonym: "complex cortical dysplasia with other brain malformations 15" EXACT []
synonym: "PAMDDFS" EXACT []
xref: MIM:618737
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:9001487 ! Facies
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2022-10-31T15:05:19Z

[Term]
id: DOID:0081267
name: graft-versus-host disease
alt_id: DOID:9006073
alt_id: MIM:614395
def: "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31466596/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK538235/ "DO"]
synonym: "graft-versus-host disease, resistance to" RELATED []
synonym: "Graft-Versus-Host Diseases" EXACT []
synonym: "graft-versus-host disease, susceptibility to" RELATED []
synonym: "Graft vs Host Disease" EXACT []
synonym: "Graft-vs-Host Diseases" EXACT []
synonym: "GVHD" EXACT []
synonym: "GVHDS" EXACT []
synonym: "Homologous Wasting Disease" EXACT []
synonym: "PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM" RELATED []
synonym: "Runt Disease" EXACT []
xref: ICD11:4B24
xref: MESH:D006086
xref: ORDO:39812
is_a: DOID:2914 ! immune system disease
created_by: mtutaj
creation_date: 2022-11-30T19:06:21Z

[Term]
id: DOID:0081268
name: pulmonary venoocclusive disease 1
alt_id: DOID:9007133
def: "A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18626305/ "DO"]
synonym: "BMPR2-RELATED CONDITION" BROAD []
synonym: "BMPR2-RELATED DISORDER" BROAD []
synonym: "pulmonary veno-occlusive disease 1" EXACT []
synonym: "pulmonary venoocclusive disease 1, autosomal dominant" EXACT []
synonym: "PVOD1" EXACT []
xref: MIM:265450
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5453 ! pulmonary venoocclusive disease
created_by: mtutaj
creation_date: 2022-11-30T19:10:01Z

[Term]
id: DOID:0081269
name: pulmonary venoocclusive disease 2
alt_id: DOID:9007143
alt_id: MIM:234810
def: "A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24292273/ "DO"]
synonym: "EIF2AK4-RELATED CONDITION" EXACT []
synonym: "Familial Pulmonary Capillary Hemangiomatosis" EXACT []
synonym: "Pulmonary Venoocclusive Disease 2, Autosomal Recessive" EXACT []
synonym: "PVOD2" EXACT []
xref: MESH:C535861
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2725 ! capillary hemangioma
is_a: DOID:5453 ! pulmonary venoocclusive disease
is_a: DOID:9005172 ! Lung Neoplasms
created_by: mtutaj
creation_date: 2022-11-30T19:11:58Z

[Term]
id: DOID:0081270
name: Smith-McCort dysplasia 1
alt_id: DOID:9001494
def: "A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9295067/ "DO"]
synonym: "DYM-RELATED CONDITION" BROAD []
synonym: "SMC1" EXACT []
xref: MIM:607326
is_a: DOID:0060247 ! Smith-McCort dysplasia
created_by: mtutaj
creation_date: 2022-11-30T19:14:34Z

[Term]
id: DOID:0081271
name: Smith-McCort dysplasia 2
alt_id: DOID:9003257
def: "A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23042644/ "DO"]
synonym: "SMC2" EXACT []
xref: MIM:615222
is_a: DOID:0060247 ! Smith-McCort dysplasia
created_by: mtutaj
creation_date: 2022-11-30T19:15:57Z

[Term]
id: DOID:0081272
name: Sandestig-Stefanova syndrome
alt_id: DOID:9008661
def: "A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32021605/ "DO", https://pubmed.ncbi.nlm.nih.gov/36158057/ "DO"]
synonym: "NUP188-related condition" BROAD []
synonym: "SANDSTEF" EXACT []
xref: MIM:618804
xref: MONDO:0032926
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004324 ! Congenital, Hereditary, and Neonatal Diseases and Abnormalities
created_by: mtutaj
creation_date: 2022-11-30T19:18:57Z

[Term]
id: DOID:0081273
name: Siddiqi syndrome
alt_id: DOID:9002405
def: "A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28067622/ "DO", https://pubmed.ncbi.nlm.nih.gov/30214770/ "DO", https://pubmed.ncbi.nlm.nih.gov/35754111/ "DO"]
synonym: "deafness, dystonia, developmental delay, and poor growth" EXACT []
synonym: "SIDDIS" EXACT []
xref: EFO:0010633
xref: MIM:618635
xref: MONDO:0032842
is_a: DOID:543 ! dystonia
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008681 ! Deafness
is_a: DOID:9455 ! lipid storage disease
created_by: mtutaj
creation_date: 2022-11-30T19:21:49Z

[Term]
id: DOID:0081274
name: peroxisome biogenesis disorder 14B
alt_id: DOID:9002681
def: "A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22581968/ "DO", https://pubmed.ncbi.nlm.nih.gov/31724321/ "DO"]
synonym: "PEX11B-RELATED CONDITION" EXACT []
synonym: "PEX14B" EXACT []
xref: MIM:614920
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9004708 ! Peroxisome Biogenesis Disorder, Complementation Group 14
created_by: mtutaj
creation_date: 2022-11-30T19:24:10Z

[Term]
id: DOID:0081275
name: neurodevelopmental disorder with eye movement abnormalities and ataxia
alt_id: DOID:9000753
def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36206744/ "DO"]
synonym: "NEDEMA" EXACT []
xref: MIM:620094
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9008296 ! Eye Abnormalities
created_by: mtutaj
creation_date: 2022-11-30T19:26:13Z

[Term]
id: DOID:0081276
name: cerebellar atrophy, visual impairment, and psychomotor retardation
alt_id: DOID:9001428
def: "A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36. (DO)" [https://disorders.eyes.arizona.edu/disorders/cerebellar-atrophy-visual-impairment-and-psychomotor-retardation "DO", https://pubmed.ncbi.nlm.nih.gov/26942288/ "DO", https://pubmed.ncbi.nlm.nih.gov/29271071/ "DO", https://pubmed.ncbi.nlm.nih.gov/35234901/ "DO"]
synonym: "CAVIPMR" EXACT []
synonym: "EMC1-RELATED DISORDER" EXACT []
xref: MIM:616875
xref: MONDO:0014811
xref: ORDO:480898
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000343 ! Vision Disorders
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9277 ! primary cerebellar degeneration
created_by: mtutaj
creation_date: 2022-11-30T19:29:57Z

[Term]
id: DOID:0081277
name: diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
def: "A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34858308/ "DO"]
synonym: "diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype" EXACT []
xref: NCI:C185467
is_a: DOID:3070 ! high grade glioma
created_by: mtutaj
creation_date: 2022-12-15T11:46:40Z

[Term]
id: DOID:0081278
name: infant-type hemispheric glioma
def: "A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35404193/ "DO", https://pubmed.ncbi.nlm.nih.gov/36315913/ "DO", https://pubmed.ncbi.nlm.nih.gov/36316040/ "DO"]
xref: NCI:C185471
is_a: DOID:3069 ! malignant astrocytoma
created_by: mtutaj
creation_date: 2022-12-15T11:47:48Z

[Term]
id: DOID:0081279
name: diffuse astrocytoma, MYB- or MYBL1-altered
def: "A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35015431/ "DO"]
xref: ICDO:9421/1
xref: NCI:C185196
is_a: DOID:4857 ! diffuse astrocytoma
created_by: mtutaj
creation_date: 2022-12-15T11:50:01Z

[Term]
id: DOID:0081280
name: pituicytoma
def: "A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. (DO)" [https://en.wikipedia.org/wiki/Pituicytoma "DO", https://pubmed.ncbi.nlm.nih.gov/36057248/ "DO", https://pubmed.ncbi.nlm.nih.gov/36180358/ "DO"]
xref: EFO:1000477
xref: ICDO:9432/1
xref: NCI:C94524
is_a: DOID:5048 ! posterior pituitary gland neoplasm
created_by: mtutaj
creation_date: 2022-12-15T11:51:15Z

[Term]
id: DOID:0081281
name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2
def: "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). (DO)" [https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html "DO"]
is_a: DOID:0080882 ! IDH-mutant and 1p/19q-codeleted oligodendroglioma
created_by: mtutaj
creation_date: 2022-12-15T11:52:51Z

[Term]
id: DOID:0081282
name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3
def: "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. (DO)" [https://www.abta.org/tumor_types/oligodendroglioma/ "DO", https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html "DO"]
xref: ICDO:9451/3
is_a: DOID:0080882 ! IDH-mutant and 1p/19q-codeleted oligodendroglioma
created_by: mtutaj
creation_date: 2022-12-15T11:54:39Z

[Term]
id: DOID:0081283
name: papillary glioneuronal tumor
def: "A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35854961/ "DO"]
synonym: "Papillary glioneuronal tumour" EXACT []
xref: NCI:C92554
is_a: DOID:0060090 ! central nervous system benign neoplasm
created_by: mtutaj
creation_date: 2022-12-15T11:56:29Z

[Term]
id: DOID:0081284
name: rosette-forming glioneuronal tumor
def: "A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36230557/ "DO"]
synonym: "RGNT" EXACT []
synonym: "Rosette-forming glioneuronal tumour" EXACT []
xref: ICDO:9509/1
xref: NCI:C129431
is_a: DOID:0060090 ! central nervous system benign neoplasm
created_by: mtutaj
creation_date: 2022-12-15T11:59:07Z

[Term]
id: DOID:0081285
name: myxoid glioneuronal tumor
def: "A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34297434/ "DO"]
synonym: "Myxoid glioneuronal tumour" EXACT []
xref: NCI:C179229
is_a: DOID:0060090 ! central nervous system benign neoplasm
created_by: mtutaj
creation_date: 2022-12-15T12:00:57Z

[Term]
id: DOID:0081286
name: embryonal tumor with multilayered rosettes
def: "A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36451902/ "DO"]
synonym: "Embryonal tumour with multilayered rosettes" EXACT []
xref: ICDO:9478/3
xref: NCI:C186534
is_a: DOID:0060103 ! central nervous system embryonal tumor
created_by: mtutaj
creation_date: 2022-12-15T12:03:34Z

[Term]
id: DOID:0081287
name: white sponge nevus 1
def: "A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7493030/ "DO"]
synonym: "WSN1" EXACT []
xref: MIM:193900
is_a: DOID:0050448 ! white sponge nevus
is_a: DOID:0050736 ! autosomal dominant disease
created_by: mtutaj
creation_date: 2023-01-30T18:53:24Z

[Term]
id: DOID:0081288
name: white sponge nevus 2
def: "A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14600690/ "DO"]
synonym: "WSN2" EXACT []
xref: MIM:615785
is_a: DOID:0050448 ! white sponge nevus
is_a: DOID:0050736 ! autosomal dominant disease
created_by: mtutaj
creation_date: 2023-01-30T18:58:12Z

[Term]
id: DOID:0081289
name: Antley-Bixler syndrome
def: "A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period. (DO)" [https://rarediseases.org/rare-diseases/antley-bixler-syndrome/ "DO"]
synonym: "Antley and Bixler's syndrome" EXACT []
synonym: "Antley-Bixler syndrome, autosomal dominant" NARROW []
synonym: "Antley-Bixler syndrome phenotype" EXACT []
synonym: "combined partial deficiency of 17-hydroxylase and 21-hydroxylase" EXACT []
synonym: "multisynostotic osteodysgenesis" EXACT []
synonym: "multisynostotic osteodysgenesis with fractures" EXACT []
synonym: "multisynostotic osteodysgenesis with long bone fractures" EXACT []
synonym: "POR deficiency" EXACT []
synonym: "trapezoidocephaly synostosis syndrome" EXACT []
synonym: "trapezoidocephaly-synostosis syndromes" EXACT []
xref: GARD:5826
xref: MESH:D054882
is_a: DOID:1701 ! steroid inherited metabolic disorder
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
created_by: mtutaj
creation_date: 2023-01-30T18:11:33Z

[Term]
id: DOID:0081290
name: Antley-Bixler syndrome without disordered steroidogenesis
alt_id: DOID:9007609
def: "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15793702/ "DO"]
synonym: "ABS2" EXACT []
synonym: "ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS" EXACT []
xref: MIM:207410
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081289 ! Antley-Bixler syndrome
created_by: mtutaj
creation_date: 2023-01-30T19:02:56Z

[Term]
id: DOID:0081291
name: chronic traumatic encephalopathy
alt_id: DOID:9005200
def: "A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves. (DO)" [https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-021-01189-4 "DO", https://pubmed.ncbi.nlm.nih.gov/33621530/ "DO", https://www.nature.com/articles/s41586-019-1026-5 "DO"]
synonym: "Chronic Post-Concussive Encephalopathies" EXACT []
synonym: "Chronic Post Concussive Encephalopathy" EXACT []
synonym: "Chronic Post-Traumatic Encephalopathies" EXACT []
synonym: "Chronic Post Traumatic Encephalopathy" EXACT []
synonym: "Post-Concussive Encephalopathies" EXACT []
synonym: "Post Concussive Encephalopathy" EXACT []
synonym: "Post-Traumatic Encephalopathies" EXACT []
synonym: "Post Traumatic Encephalopathy" EXACT []
xref: MESH:D000070627
is_a: DOID:0081292 ! traumatic brain injury
is_a: DOID:680 ! tauopathy
is_a: DOID:9005179 ! Chronic Brain Injury
created_by: mtutaj
creation_date: 2023-01-30T19:05:06Z

[Term]
id: DOID:0081292
name: traumatic brain injury
alt_id: DOID:9003061
def: "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459300/ "DO"]
synonym: "Brain Trauma" EXACT []
synonym: "brain traumas" EXACT []
synonym: "TBI (Traumatic Brain Injuries)" EXACT []
synonym: "TBI (Traumatic Brain Injury)" EXACT []
synonym: "TBIs (Traumatic Brain Injuries)" EXACT []
synonym: "Traumatic Brain Injuries" EXACT []
synonym: "Traumatic Encephalopathies" EXACT []
synonym: "traumatic encephalopathy" EXACT []
xref: MESH:D000070642
is_a: DOID:9000998 ! Brain Injuries
created_by: mtutaj
creation_date: 2023-01-30T19:08:24Z

[Term]
id: DOID:0081293
name: salivary gland mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma located_in the salivary gland. (DO)" [https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html "DO"]
synonym: "Major Salivary Gland Mucoepidermoid Carcinoma" NARROW []
xref: EFO:1000346
xref: NCI:C5908
is_a: DOID:0050904 ! salivary gland carcinoma
is_a: DOID:4531 ! mucoepidermoid carcinoma
created_by: mtutaj
creation_date: 2023-01-30T19:11:40Z

[Term]
id: DOID:0081294
name: neuronal intranuclear inclusion disease
alt_id: DOID:9002831
def: "A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27797808/ "DO"]
synonym: "NIID" EXACT []
xref: MESH:C537395
xref: MIM:603472
xref: MONDO:0011327
xref: NCI:C122655
xref: ORDO:2289
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1289 ! neurodegenerative disease
created_by: mtutaj
creation_date: 2023-01-30T19:26:48Z

[Term]
id: DOID:0081295
name: essential tremor 6
alt_id: DOID:9004326
def: "An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31819945/ "DO"]
synonym: "ETM6" EXACT []
synonym: "hereditary essential tremor 6" EXACT []
xref: MIM:618866
xref: MONDO:0030027
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4990 ! essential tremor
created_by: mtutaj
creation_date: 2023-01-30T19:29:38Z

[Term]
id: DOID:0081296
name: oculopharyngodistal myopathy
alt_id: DOID:9008215
def: "A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. (DO)" [https://jnnp.bmj.com/content/75/10/1499 "DO"]
synonym: "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" EXACT []
synonym: "FOLP-DR" EXACT []
synonym: "oculopharyngodistal myopathies" EXACT []
synonym: "OPDM" EXACT []
xref: GARD:12592
xref: MESH:C563508
xref: MIM:PS164310
xref: ORDO:98897
is_a: DOID:9884 ! muscular dystrophy
created_by: mtutaj
creation_date: 2023-01-30T19:31:51Z

[Term]
id: DOID:0081297
name: oculopharyngodistal myopathy 1
alt_id: DOID:9002808
def: "An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31332380/ "DO"]
synonym: "OPDM1" EXACT []
xref: MIM:164310
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081296 ! oculopharyngodistal myopathy
created_by: mtutaj
creation_date: 2023-01-30T19:34:53Z

[Term]
id: DOID:0081298
name: oculopharyngodistal myopathy 2
alt_id: DOID:9000168
def: "An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32413282/ "DO"]
synonym: "OPDM2" EXACT []
xref: MIM:618940
xref: NCI:C190873
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081296 ! oculopharyngodistal myopathy
created_by: mtutaj
creation_date: 2023-01-30T19:36:22Z

[Term]
id: DOID:0081299
name: oculopharyngodistal myopathy 3
alt_id: DOID:9002692
def: "An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33693509/ "DO"]
synonym: "OPDM3" EXACT []
xref: MIM:619473
xref: MONDO:0023671
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081296 ! oculopharyngodistal myopathy
created_by: mtutaj
creation_date: 2023-01-30T19:36:35Z

[Term]
id: DOID:0081300
name: oculopharyngodistal myopathy 4
alt_id: DOID:9000611
def: "An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35148830/ "DO"]
synonym: "OPDM4" EXACT []
xref: MIM:619790
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081296 ! oculopharyngodistal myopathy
created_by: mtutaj
creation_date: 2023-01-30T19:36:51Z

[Term]
id: DOID:0081301
name: intellectual developmental disorder with ocular anomalies and distinctive facial features
alt_id: DOID:9001279
def: "A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36067766/ "DO"]
synonym: "IDDOF" EXACT []
synonym: "MTSS2-RELATED DISORDER" EXACT []
synonym: "MTSS2-related neurodevelopmental disorder" EXACT []
xref: MIM:620086
is_a: DOID:0050888 ! syndromic intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9008296 ! Eye Abnormalities
created_by: mtutaj
creation_date: 2023-01-30T19:40:53Z

[Term]
id: DOID:0081302
name: diffuse leptomeningeal glioneuronal tumor
def: "A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. (DO)" [https://radiopaedia.org/articles/diffuse-leptomeningeal-glioneuronal-tumour?lang=us "DO"]
synonym: "Diffuse leptomeningeal glioneuronal tumour" EXACT []
xref: ICDO:9509/3
xref: NCI:C129424
is_a: DOID:0060090 ! central nervous system benign neoplasm
created_by: mtutaj
creation_date: 2023-01-30T19:44:00Z

[Term]
id: DOID:0081303
name: multinodular and vacuolating neuronal tumor
def: "A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres. (DO)" [https://radiopaedia.org/articles/multinodular-and-vacuolating-neuronal-tumour-1?lang=us "DO"]
xref: ICDO:9509/0
xref: NCI:C129427
is_a: DOID:0060090 ! central nervous system benign neoplasm
created_by: mtutaj
creation_date: 2023-01-30T19:45:45Z

[Term]
id: DOID:0081304
name: high-grade astrocytoma with piloid features
def: "An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. (DO)" [https://radiopaedia.org/articles/high-grade-astrocytoma-with-piloid-features-1?lang=us "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8131327/ "DO"]
xref: ICDO:9421/3
xref: NCI:C185879
is_a: DOID:3078 ! anaplastic astrocytoma
created_by: mtutaj
creation_date: 2023-01-30T19:46:54Z

[Term]
id: DOID:0081305
name: polymorphous low grade neuroepithelial tumour of the young
def: "A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy. (DO)" [https://journals.sagepub.com/doi/full/10.1177/20363613221083360 "DO"]
synonym: "Massively Calcified Low Grade Glioma" EXACT []
xref: NCI:C180378
is_a: DOID:0060090 ! central nervous system benign neoplasm
created_by: mtutaj
creation_date: 2023-01-30T19:48:26Z

[Term]
id: DOID:0081306
name: spindle cell oncocytoma
def: "A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486883/ "DO"]
xref: ICDO:8290/0
xref: NCI:C94537
is_a: DOID:5048 ! posterior pituitary gland neoplasm
created_by: mtutaj
creation_date: 2023-01-30T19:49:29Z

[Term]
id: DOID:0081307
name: lymphomatoid granulomatosis
alt_id: DOID:9007761
def: "A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues. (DO)" [https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/ "DO"]
synonym: "lymphomatoid granulomatoses" EXACT []
xref: ICD10CM:C83.8
xref: MESH:D008230
xref: MONDO:0019466
xref: NCI:C7930
is_a: DOID:0060071 ! pre-malignant neoplasm
is_a: DOID:707 ! B-cell lymphoma
created_by: mtutaj
creation_date: 2023-01-30T19:51:02Z

[Term]
id: DOID:0081308
name: grade I lymphomatoid granulomatosis
def: "A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen. (DO)" [https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources "DO"]
xref: NCI:C7931
is_a: DOID:0081307 ! lymphomatoid granulomatosis
created_by: mtutaj
creation_date: 2023-01-30T19:52:38Z

[Term]
id: DOID:0081309
name: grade II lymphomatoid granulomatosis
def: "A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen. (DO)" [https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources "DO"]
xref: ICDO:9766/1
is_a: DOID:0081307 ! lymphomatoid granulomatosis
created_by: mtutaj
creation_date: 2023-01-30T19:53:27Z

[Term]
id: DOID:0081310
name: grade III lymphomatoid granulomatosis
def: "A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive. (DO)" [https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources "DO"]
xref: ICDO:9766/3
is_a: DOID:0081307 ! lymphomatoid granulomatosis
created_by: mtutaj
creation_date: 2023-01-30T19:54:33Z

[Term]
id: DOID:0081311
name: intravascular large B-cell lymphoma
def: "A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. (DO)" [https://ashpublications.org/blood/article/132/15/1561/39314/Intravascular-large-B-cell-lymphoma-a-chameleon "DO"]
xref: ICDO:9712/3
xref: NCI:C4342
is_a: DOID:0081452 ! large B-cell lymphoma
created_by: mtutaj
creation_date: 2023-01-30T19:55:46Z

[Term]
id: DOID:0081312
name: T-cell non-Hodgkin lymphoma
alt_id: DOID:9005436
def: "A non-Hodgkin lymphoma of T-cell lineage. (DO)" [https://www.cancer.org/cancer/non-hodgkin-lymphoma/treating/t-cell-lymphoma.html "DO"]
synonym: "T-Cell Lymphoma" EXACT []
synonym: "T-Cell Lymphomas" EXACT []
xref: ICDO:9702/3
xref: MESH:D016399
xref: NCI:C3466
is_a: DOID:0060060 ! non-Hodgkin lymphoma
created_by: mtutaj
creation_date: 2023-01-30T18:35:50Z

[Term]
id: DOID:0081313
name: primary diffuse large B-cell lymphoma of the central nervous system
def: "A diffuse large B-cell lymphoma arising from the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840863/ "DO"]
xref: NCI:C71720
is_a: DOID:0050745 ! diffuse large B-cell lymphoma
created_by: mtutaj
creation_date: 2023-01-30T20:02:06Z

[Term]
id: DOID:0081314
name: extraventricular neurocytoma
def: "A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24357019/ "DO"]
xref: NCI:C92555
is_a: DOID:3541 ! cerebral ventricle cancer
created_by: mtutaj
creation_date: 2023-01-30T20:03:02Z

[Term]
id: DOID:0081315
name: central nervous system tumor with BCOR internal tandem duplication
def: "A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35809497/ "DO"]
synonym: "CNS tumour with BCOR internal tandem duplication" EXACT []
xref: NCI:C186556
is_a: DOID:0060103 ! central nervous system embryonal tumor
created_by: mtutaj
creation_date: 2023-01-30T20:07:41Z

[Term]
id: DOID:0081316
name: primary intracranial sarcoma, DICER1-mutant
def: "A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35789272/ "DO"]
xref: ICDO:9480/3
xref: NCI:C186610
is_a: DOID:2132 ! brain sarcoma
created_by: mtutaj
creation_date: 2023-01-30T20:08:36Z

[Term]
id: DOID:0081317
name: multiple synostoses syndrome 1
alt_id: DOID:9007208
def: "A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11846737/ "DO"]
synonym: "DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN" EXACT []
synonym: "FACIOAUDIOSYMPHALANGISM SYNDROME" EXACT []
synonym: "SYMPHALANGISM-BRACHYDACTYLY SYNDROME" EXACT []
synonym: "SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY" EXACT []
synonym: "SYNS1" EXACT []
synonym: "WL SYNDROME" EXACT []
xref: GARD:3836
xref: MIM:186500
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0050794 ! multiple synostoses syndrome
is_a: DOID:9001951 ! Distal Symphalangism
is_a: DOID:9008681 ! Deafness
created_by: mtutaj
creation_date: 2023-02-27T12:45:29Z

[Term]
id: DOID:0081318
name: multiple synostoses syndrome 2
alt_id: DOID:9006580
alt_id: MIM:610017
def: "A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16532400/ "DO"]
synonym: "SYNS2" EXACT []
xref: GARD:9916
xref: MESH:C537380
is_a: DOID:0050794 ! multiple synostoses syndrome
created_by: mtutaj
creation_date: 2023-02-27T12:45:47Z

[Term]
id: DOID:0081319
name: multiple synostoses syndrome 3
alt_id: DOID:9002671
alt_id: MIM:612961
def: "A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28730625/ "DO"]
synonym: "SYNS3" EXACT []
xref: MESH:C567839
is_a: DOID:0050794 ! multiple synostoses syndrome
created_by: mtutaj
creation_date: 2023-02-27T12:45:58Z

[Term]
id: DOID:0081320
name: multiple synostoses syndrome 4
alt_id: DOID:9009151
def: "A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29130651/ "DO"]
synonym: "SYNS4" EXACT []
xref: MIM:617898
is_a: DOID:0050794 ! multiple synostoses syndrome
created_by: mtutaj
creation_date: 2023-02-27T12:46:08Z

[Term]
id: DOID:0081321
name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
alt_id: DOID:9004135
alt_id: MIM:178110
def: "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29805041/ "DO"]
synonym: "autosomal dominant multiple pterygium syndrome" EXACT []
synonym: "contractures, pterygia, and variable skeletal fusions syndrome 1A" EXACT []
synonym: "CPSFS1A" EXACT []
synonym: "CPSKF1A" EXACT []
synonym: "DA8" RELATED []
synonym: "distal arthrogryposis, type 8" RELATED []
xref: MESH:C566739
xref: ORDO:65743
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080110 ! contractures, pterygia, and spondylocarpotarsal fusion syndrome
created_by: mtutaj
creation_date: 2023-02-27T12:51:25Z

[Term]
id: DOID:0081322
name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
alt_id: DOID:9003440
def: "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29805041/ "DO"]
synonym: "Autosomal recessive multiple pterygium syndrome" EXACT []
synonym: "contractures, pterygia, and variable skeletal fusions syndrome 1B" EXACT []
synonym: "CPSFS1B" EXACT []
synonym: "CPSKF1B" EXACT []
xref: GARD:7111
xref: MIM:618469
xref: ORDO:2990
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080110 ! contractures, pterygia, and spondylocarpotarsal fusion syndrome
created_by: slaulede
creation_date: 2019-09-10T00:00:00Z

[Term]
id: DOID:0081323
name: breast implant illness
def: "A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. (DO)" [https://www.fda.gov/medical-devices/breast-implants/medical-device-reports-systemic-symptoms-women-breast-implants "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060741/ "DO"]
is_a: DOID:225 ! syndrome
is_a: DOID:3463 ! breast disease
created_by: mtutaj
creation_date: 2023-02-27T12:55:48Z

[Term]
id: DOID:0081324
name: neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
alt_id: DOID:9003640
def: "An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35861243/ "DO"]
synonym: "Birk-Aharoni syndrome" EXACT []
synonym: "BKAH" EXACT []
synonym: "NEDGTH" EXACT []
xref: MIM:620071
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:12835 ! quadriplegia
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9006257 ! Growth Disorders
created_by: mtutaj
creation_date: 2023-02-27T12:57:01Z

[Term]
id: DOID:0081325
name: developmental and epileptic encephalopathy 94
alt_id: DOID:9001359
def: "A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23708187/ "DO"]
synonym: "CHD2-related disorder" EXACT []
synonym: "DEE94" EXACT []
xref: EFO:0020000
xref: MIM:615369
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-02-27T13:05:09Z

[Term]
id: DOID:0081326
name: oxoglutarate dehydrogenase deficiency
alt_id: DOID:9006776
alt_id: MIM:203740
def: "An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32383294/ "DO"]
synonym: "2-alpha-ketoglutarate dehydrogenase deficiency" EXACT []
synonym: "2-ketoglutarate dehydrogenase deficiency" EXACT []
synonym: "alpha-ketoglutarate dehydrogenase deficiency" EXACT []
synonym: "ALPHA-KGD DEFICIENCY" EXACT []
synonym: "OGDHD" EXACT []
synonym: "Oxoglutaric Aciduria" EXACT []
xref: GARD:617
xref: MESH:C536582
xref: ORDO:31
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2023-02-27T13:07:01Z

[Term]
id: DOID:0081327
name: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
alt_id: DOID:9009222
def: "A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30057031/ "DO", https://pubmed.ncbi.nlm.nih.gov/30166628/ "DO", https://rarediseases.org/gard-rare-disease/irf2bpl-related-disorders/ "DO", https://www.bcm.edu/news/wnt-signaling-is-identified-as-a-target-in-nedamss-disorder "DO", https://www.childneurologyfoundation.org/disorder/irf2bpl/ "DO"]
synonym: "IRF2BPL-related condition" BROAD []
synonym: "NEDAMSS" EXACT []
xref: MIM:618088
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2023-02-27T13:08:58Z

[Term]
id: DOID:0081328
name: familial hyperinsulinemic hypoglycemia 8
alt_id: DOID:9006400
def: "A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34971397/ "DO"]
synonym: "HHF8" EXACT []
xref: MIM:620211
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13317 ! hyperinsulinemic hypoglycemia
created_by: mtutaj
creation_date: 2023-03-31T15:57:18Z

[Term]
id: DOID:0081329
name: glycogen storage disease I
def: "A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. (DO)" [https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I "DO", https://www.ncbi.nlm.nih.gov/books/NBK1312/ "DO", https://www.omim.org/entry/232200#33 "DO"]
synonym: "deficiency of glucose-6-phosphatase" EXACT []
synonym: "Gierke's disease" EXACT []
synonym: "Gierke disease" EXACT []
synonym: "Gierkes disease" EXACT []
synonym: "Glucose-6-Phosphatase Deficiencies" EXACT []
synonym: "Glucose 6 Phosphatase Deficiency" EXACT []
synonym: "glucosephosphatase deficiencies" EXACT []
synonym: "Glucosephosphatase Deficiency" EXACT []
synonym: "Glycogenosis 1" EXACT []
synonym: "glycogenosis type I" EXACT []
synonym: "Glycogen storage disease 1" EXACT []
synonym: "glycogen storage disease 1 (GSD I)" EXACT []
synonym: "glycogen storage disease type I" EXACT []
synonym: "hepatorenal glycogen storage disease" EXACT []
synonym: "von Gierke's disease" EXACT []
synonym: "von Gierke Disease" EXACT []
synonym: "von Gierkes disease" EXACT []
xref: EFO:0007288
xref: ICD10CM:E74.01
xref: MESH:D005953
xref: MONDO:0002413
xref: NCI:C84733
xref: ORDO:364
is_a: DOID:2747 ! glycogen storage disease
created_by: mtutaj
creation_date: 2023-03-31T16:02:55Z

[Term]
id: DOID:0081330
name: glycogen storage disease Ib
alt_id: DOID:9000306
alt_id: MIM:232220
def: "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31536830/ "DO"]
synonym: "glucose-6-phosphate transport defect" EXACT []
synonym: "glycogen storage disease type IB" EXACT []
synonym: "GSD1B" EXACT []
synonym: "GSD Ib" EXACT []
xref: MESH:C562594
xref: NCI:C122661
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081329 ! glycogen storage disease I
created_by: mtutaj
creation_date: 2023-03-31T16:09:50Z

[Term]
id: DOID:0081331
name: glycogen storage disease Ic
alt_id: DOID:9008172
alt_id: MIM:232240
def: "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10598822/ "DO"]
synonym: "GSD1C" EXACT []
synonym: "GSD IC" EXACT []
xref: MESH:C562805
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081329 ! glycogen storage disease I
created_by: mtutaj
creation_date: 2023-03-31T16:11:29Z

[Term]
id: DOID:0081332
name: progeroid syndrome
def: "A syndrome that is characterized by the premature onset of age-related pathologies. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34272172/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958309/ "DO"]
synonym: "progeroid disease" EXACT []
synonym: "progeroid syndromes" EXACT []
xref: MIM:PS176670
is_a: DOID:225 ! syndrome
created_by: mtutaj
creation_date: 2023-03-31T15:28:51Z

[Term]
id: DOID:0081333
name: Wiedemann-Rautenstrauch syndrome
alt_id: DOID:9008367
def: "A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. (DO)" [https://medlineplus.gov/genetics/condition/wiedemann-rautenstrauch-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/23696134/ "DO"]
synonym: "neonatal progeroid syndrome" EXACT []
synonym: "neonatal pseudo-hydrocephalic progeroid syndrome" EXACT []
synonym: "POLR3A-RELATED DISORDERS" BROAD []
synonym: "POLR3A-RELATED NEUROLOGICAL DISORDER" BROAD []
synonym: "WDRTS" EXACT []
synonym: "WIEDEMANN-RAUTENSTRAUCH-LIKE PROGEROID SYNDROME" EXACT []
xref: GARD:330
xref: MESH:C536423
xref: MIM:264090
xref: MONDO:0009910
xref: NCI:C121565
xref: ORDO:3455
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081332 ! progeroid syndrome
is_a: DOID:3911 ! progeria
is_a: DOID:9002231 ! Fetal Growth Retardation
created_by: mtutaj
creation_date: 2023-03-31T16:16:17Z

[Term]
id: DOID:0081334
name: Nestor-Guillermo progeria syndrome
alt_id: DOID:9000907
def: "A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32783369/ "DO"]
synonym: "NGPS" EXACT []
synonym: "PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS" EXACT []
synonym: "PSCOO" EXACT []
xref: GARD:11008
xref: MIM:614008
xref: ORDO:280576
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081332 ! progeroid syndrome
is_a: DOID:9000488 ! Progeria Syndrome, Childhood-Onset
is_a: DOID:9006081 ! Osteolysis
created_by: mtutaj
creation_date: 2023-03-31T16:18:57Z

[Term]
id: DOID:0081335
name: Becker disease
alt_id: DOID:9009057
def: "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8301644/ "DO"]
synonym: "CONGENITAL MYOTONIA, AUTOSOMAL RECESSIVE FORM" EXACT []
synonym: "Myotonia Congenita, Autosomal Recessive" EXACT []
xref: MIM:255300
xref: MIM:255700
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2106 ! myotonia congenita
created_by: mtutaj
creation_date: 2023-05-31T19:43:01Z

[Term]
id: DOID:0081336
name: Thomsen disease
alt_id: DOID:9001336
def: "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11840191/ "DO"]
synonym: "congenital myotonia, autosomal dominant form" EXACT []
synonym: "generalized myotonia of Thomsen" EXACT []
synonym: "Myotonia Congenita, Autosomal Dominant" EXACT []
synonym: "THD" EXACT []
synonym: "Thomsen's Disease" EXACT []
synonym: "Thomsen Generalized Myotonia" EXACT []
synonym: "Thomsens disease" EXACT []
xref: MIM:160800
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2106 ! myotonia congenita
created_by: mtutaj
creation_date: 2023-05-31T19:49:34Z

[Term]
id: DOID:0081337
name: congenital myopathy
alt_id: DOID:0080100
def: "A myopathy that is characterized by hypotonia and weakness, usually present from birth. (DO)" [https://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0419-z "DO"]
synonym: "Batten Turner congenital myopathy" EXACT []
xref: MIM:PS117000
is_a: DOID:423 ! myopathy
created_by: mtutaj
creation_date: 2023-05-31T11:59:47Z

[Term]
id: DOID:0081338
name: myofibrillar myopathy 11
alt_id: DOID:9007506
def: "A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33217308/ "DO"]
synonym: "congenital myopathy with eccentric cores" EXACT []
synonym: "MFM11" EXACT []
xref: MIM:619178
xref: MONDO:0030927
is_a: DOID:0080307 ! myofibrillar myopathy
created_by: mtutaj
creation_date: 2023-05-31T19:53:55Z

[Term]
id: DOID:0081339
name: congenital myopathy 2B
def: "A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25182138/ "DO"]
synonym: "CMYO2B" EXACT []
synonym: "CMYP2B" EXACT []
synonym: "congenital myopathy 2B, severe infantile, autosomal recessive" EXACT []
xref: MIM:620265
xref: MONDO:0859517
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
created_by: mtutaj
creation_date: 2023-05-31T19:59:09Z

[Term]
id: DOID:0081340
name: congenital myopathy 2C
def: "A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B). (DO)" [https://pubmed.ncbi.nlm.nih.gov/34561123/ "DO"]
synonym: "CMYO2C" EXACT []
synonym: "CMYP2C" EXACT []
synonym: "congenital myopathy 2C, severe infantile, autosomal dominant" EXACT []
xref: MIM:620278
xref: MONDO:0859523
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081337 ! congenital myopathy
created_by: mtutaj
creation_date: 2023-05-31T20:07:26Z

[Term]
id: DOID:0081341
name: congenital myopathy 5
alt_id: DOID:9006785
def: "A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24105469/ "DO"]
synonym: "CMYO5" EXACT []
synonym: "CMYP5" EXACT []
synonym: "Congenital Myopathy 5 with Cardiomyopathy" EXACT []
synonym: "Early-Onset Myopathy with Fatal Cardiomyopathy" EXACT []
synonym: "EOMFC" EXACT []
synonym: "Salih Cmd" EXACT []
synonym: "Salih Congenital Muscular Dystrophy" EXACT []
synonym: "Salih Myopathy" EXACT []
synonym: "SALMY" EXACT []
xref: MESH:C567129
xref: MIM:611705
xref: MONDO:0012714
xref: ORDO:289377
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
created_by: mtutaj
creation_date: 2023-05-31T20:11:45Z

[Term]
id: DOID:0081342
name: congenital myopathy 8
alt_id: DOID:9004417
def: "A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30701273/ "DO"]
synonym: "CMYO8" EXACT []
synonym: "CMYP8" EXACT []
synonym: "Congenital Myopathy with Structured Cores and Z-Line Abnormalities" EXACT []
synonym: "MSCD" EXACT []
synonym: "MULTIPLE STRUCTURED CORE DISEASE" EXACT []
synonym: "MYOCOZ" EXACT []
xref: MIM:618654
xref: MONDO:0032852
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081337 ! congenital myopathy
created_by: mtutaj
creation_date: 2023-05-31T20:14:59Z

[Term]
id: DOID:0081343
name: congenital myopathy 9A
alt_id: DOID:9006903
def: "A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30770808/ "DO"]
synonym: "CMYO9A" EXACT []
synonym: "CMYP9A" EXACT []
synonym: "congenital myopathy 9A with respiratory insufficiency and bone fractures" EXACT []
synonym: "congenital myopathy with respiratory insufficiency and bone fractures" EXACT []
synonym: "MYORIBF" EXACT []
xref: MIM:618822
xref: MONDO:0032936
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:11162 ! respiratory failure
is_a: DOID:9002589 ! Bone Fractures
created_by: mtutaj
creation_date: 2023-05-31T20:23:24Z

[Term]
id: DOID:0081344
name: congenital myopathy 9B
alt_id: DOID:9002436
def: "A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30770808/ "DO"]
synonym: "CMYO9B" EXACT []
synonym: "CMYP9B" EXACT []
synonym: "Congenital Myopathy 9B, Proximal, with Minicore Lesions" EXACT []
synonym: "Congenital Proximal Myopathy with Minicore Lesions" EXACT []
synonym: "MYOPMIL" EXACT []
xref: MIM:618823
xref: MONDO:0032937
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
created_by: mtutaj
creation_date: 2023-05-31T20:25:36Z

[Term]
id: DOID:0081345
name: congenital myopathy 10B
def: "A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29128256/ "DO"]
synonym: "CMYO10B" EXACT []
synonym: "CMYP10B" EXACT []
synonym: "Congenital myopathy 10B, mild variant" EXACT []
synonym: "MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT" EXACT []
xref: MIM:620249
xref: MONDO:0859515
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
created_by: mtutaj
creation_date: 2023-05-31T20:28:07Z

[Term]
id: DOID:0081346
name: congenital myopathy 14
alt_id: DOID:9001348
def: "A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30215711/ "DO"]
synonym: "CMYO14" EXACT []
synonym: "CMYP14" EXACT []
synonym: "Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy" EXACT []
synonym: "congenital myopathy with reduced type 2 muscle fibers" EXACT []
synonym: "MYOFTA" EXACT []
xref: MIM:618414
xref: MONDO:0034109
xref: ORDO:544602
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:913 ! atrophic muscular disease
created_by: mtutaj
creation_date: 2023-05-31T20:37:44Z

[Term]
id: DOID:0081347
name: congenital myopathy 15
alt_id: DOID:9006710
def: "A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33755597/ "DO"]
synonym: "CMYO15" EXACT []
synonym: "CMYP15" EXACT []
synonym: "MYONRI" EXACT []
synonym: "MYOPATHY, CONGENITAL, WITH NEONATAL RESPIRATORY INSUFFICIENCY" EXACT []
xref: MIM:620161
xref: MONDO:0859335
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:11161 ! neonatal respiratory failure
created_by: mtutaj
creation_date: 2023-05-31T20:41:21Z

[Term]
id: DOID:0081348
name: congenital myopathy 16
alt_id: DOID:9004398
def: "A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31025394/ "DO"]
synonym: "CMYO16" EXACT []
synonym: "CMYP16" EXACT []
synonym: "Congenital Myopathy with Tremor" EXACT []
synonym: "myogenic tremor" EXACT []
synonym: "MYOTREM" EXACT []
xref: MIM:618524
xref: MONDO:0032797
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:9000495 ! Tremor
created_by: mtutaj
creation_date: 2023-05-31T20:42:45Z

[Term]
id: DOID:0081349
name: congenital myopathy 17
alt_id: DOID:9009026
def: "A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30403323/ "DO"]
synonym: "CMYO17" EXACT []
synonym: "CMYP17" EXACT []
synonym: "congenital myopathy with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies" EXACT []
synonym: "MYODRIF" EXACT []
synonym: "MYOPATHY, CONGENITAL, DUE TO MYOD1 DEFICIENCY" EXACT []
xref: MIM:618975
xref: MONDO:0033548
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:11162 ! respiratory failure
is_a: DOID:9001487 ! Facies
created_by: mtutaj
creation_date: 2023-05-31T20:43:59Z

[Term]
id: DOID:0081350
name: congenital myopathy 18
alt_id: DOID:9005248
def: "A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33060286/ "DO", https://pubmed.ncbi.nlm.nih.gov/34763287/ "DO"]
synonym: "CMYO18" EXACT []
synonym: "CMYP18" EXACT []
synonym: "Congenital myopathy 18 due to dihydropyridine receptor defect" EXACT []
synonym: "DHPR CONGENITAL MYOPATHY" EXACT []
synonym: "DHPRM" EXACT []
synonym: "DIHYDROPYRIDINE RECEPTOR CONGENITAL MYOPATHY" EXACT []
synonym: "MYOPATHY, CONGENITAL, DUE TO DIHYDROPYRIDINE RECEPTOR DEFECT" EXACT []
xref: MIM:620246
xref: MONDO:0859514
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
created_by: mtutaj
creation_date: 2023-05-31T20:45:32Z

[Term]
id: DOID:0081351
name: congenital myopathy 19
alt_id: DOID:9002481
def: "A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31092906/ "DO"]
synonym: "CMYO19" EXACT []
synonym: "CMYP19" EXACT []
synonym: "MYOSCO" EXACT []
synonym: "Progressive Congenital Myopathy with Scoliosis" EXACT []
xref: EFO:0010565
xref: MIM:618578
xref: MONDO:0032821
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060249 ! scoliosis
is_a: DOID:0081337 ! congenital myopathy
created_by: mtutaj
creation_date: 2023-05-31T20:47:40Z

[Term]
id: DOID:0081352
name: congenital myopathy 20
alt_id: DOID:9006540
def: "A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29498452/ "DO", https://pubmed.ncbi.nlm.nih.gov/31230720/ "DO"]
synonym: "CMYO20" EXACT []
synonym: "CMYP20" EXACT []
synonym: "RYR3-RELATED CONDITION" BROAD []
xref: MIM:620310
xref: MONDO:0957215
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
created_by: mtutaj
creation_date: 2023-05-31T20:49:28Z

[Term]
id: DOID:0081353
name: congenital myopathy 21
alt_id: DOID:9001370
def: "A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36264506/ "DO", https://pubmed.ncbi.nlm.nih.gov/36344539/ "DO"]
synonym: "CMYO21" EXACT []
synonym: "CMYP21" EXACT []
synonym: "Congenital Myopathy 21 with Early Respiratory Failure" EXACT []
xref: MIM:620326
xref: MONDO:0957224
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:11162 ! respiratory failure
created_by: mtutaj
creation_date: 2023-05-31T20:58:21Z

[Term]
id: DOID:0081354
name: congenital myopathy 22A
alt_id: DOID:9006585
def: "A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26700687/ "DO"]
synonym: "CMYO22A" EXACT []
synonym: "CMYP22A" EXACT []
synonym: "Congenital Myopathy 22" BROAD []
synonym: "congenital myopathy 22A, classic" EXACT []
synonym: "SCN4A-RELATED MYOPATHY, AUTOSOMAL RECESSIVE" BROAD []
xref: MIM:620351
xref: MONDO:0957247
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
created_by: mtutaj
creation_date: 2023-05-31T21:00:55Z

[Term]
id: DOID:0081355
name: congenital myopathy 22B
def: "A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26700687/ "DO"]
synonym: "CMYO22B" EXACT []
synonym: "CMYP22B" EXACT []
synonym: "congenital myopathy 22B, severe fetal" EXACT []
synonym: "SCN4A-RELATED MYOPATHY, AUTOSOMAL RECESSIVE" BROAD []
xref: MIM:620369
xref: MONDO:0957265
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
created_by: mtutaj
creation_date: 2023-05-31T21:18:58Z

[Term]
id: DOID:0081356
name: spinal muscular atrophy, Jokela type
alt_id: DOID:9004598
def: "A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36158221/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK304142/ "DO"]
synonym: "SMAJ" EXACT []
xref: MIM:615048
xref: ORDO:276435
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12377 ! spinal muscular atrophy
created_by: mtutaj
creation_date: 2023-05-31T21:23:08Z

[Term]
id: DOID:0081357
name: isolated mitochondrial myopathy
alt_id: DOID:9008878
def: "A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35700042/ "DO"]
synonym: "Autosomal dominant mitochondrial myopathy with exercise intolerance" EXACT []
synonym: "IMMD" EXACT []
synonym: "MITOCHONDRIAL MYOPATHY, ISOLATED, AUTOSOMAL DOMINANT" EXACT []
xref: MIM:616209
xref: ORDO:457050
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:699 ! mitochondrial myopathy
created_by: mtutaj
creation_date: 2023-05-31T21:25:16Z

[Term]
id: DOID:0081358
name: epidermolytic hyperkeratosis 1
alt_id: DOID:9006135
def: "An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11531804/ "DO"]
synonym: "EHK1" EXACT []
xref: MIM:113800
xref: ORDO:312
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4603 ! epidermolytic hyperkeratosis
created_by: mtutaj
creation_date: 2023-05-31T21:27:10Z

[Term]
id: DOID:0081359
name: epidermolytic hyperkeratosis 2
alt_id: DOID:9004068
def: "An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19474805/ "DO"]
synonym: "EHK2" EXACT []
synonym: "EHK2A" NARROW []
synonym: "EHK2B" NARROW []
synonym: "epidermolytic hyperkeratosis 2A, autosomal dominant" NARROW []
synonym: "epidermolytic hyperkeratosis 2B, autosomal recessive" NARROW []
xref: MIM:620150
xref: MIM:620707
is_a: DOID:4603 ! epidermolytic hyperkeratosis
created_by: mtutaj
creation_date: 2023-05-31T21:28:50Z

[Term]
id: DOID:0081360
name: spastic quadriplegic cerebral palsy 2
alt_id: DOID:9003517
alt_id: MIM:612900
def: "A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16301218/ "DO"]
synonym: "CPSQ2" EXACT []
synonym: "KANK1-RELATED CONDITION" EXACT []
synonym: "KANK1- RELATED DISORDER" EXACT []
xref: MESH:C567867
is_a: DOID:10970 ! spastic quadriplegic cerebral palsy
created_by: mtutaj
creation_date: 2023-05-31T21:30:24Z

[Term]
id: DOID:0081361
name: spastic quadriplegic cerebral palsy 3
def: "A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23836506/ "DO"]
synonym: "CPSQ3" EXACT []
xref: MIM:617008
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10970 ! spastic quadriplegic cerebral palsy
created_by: mtutaj
creation_date: 2023-05-31T21:32:27Z

[Term]
id: DOID:0081362
name: Pierpont syndrome
alt_id: DOID:9007450
alt_id: MIM:602342
def: "An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26769062/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077337/ "DO"]
synonym: "Plantar lipomatosis-facial dysmorphism-developmental delay syndrome" EXACT []
synonym: "Plantar lipomatosis, unusual facies, and developmental delay" EXACT []
synonym: "Plantar lipomatosis-unusual facies-developmental delay syndrome" EXACT []
synonym: "PRPTS" EXACT []
synonym: "TBL1XR1-RELATED CONDITION" BROAD []
synonym: "TBL1XR1-RELATED DISORDER" BROAD []
synonym: "TBL1XR1-RELATED NEURODEVELOPMENTAL DISORDERS, INCLUDING PIERPONT SYNDROME" BROAD []
xref: MESH:C566559
xref: ORDO:487825
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:225 ! syndrome
is_a: DOID:3153 ! lipomatosis
is_a: DOID:9001487 ! Facies
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2023-05-31T21:37:20Z

[Term]
id: DOID:0081363
name: distal myopathy with rimmed vacuoles
def: "A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25114083/ "DO", https://pubmed.ncbi.nlm.nih.gov/26208961/ "DO", https://pubmed.ncbi.nlm.nih.gov/33125541/ "DO", https://pubmed.ncbi.nlm.nih.gov/37188302/ "DO", https://pubmed.ncbi.nlm.nih.gov/37205240/ "DO"]
synonym: "distal myopathy, with or without rimmed vacuoles" EXACT []
xref: MIM:617158
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11720 ! distal myopathy
created_by: mtutaj
creation_date: 2023-05-31T21:39:39Z

[Term]
id: DOID:0081364
name: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
alt_id: DOID:9005240
def: "A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27545679/ "DO"]
synonym: "NADGP" EXACT []
xref: MIM:617145
is_a: DOID:1289 ! neurodegenerative disease
created_by: mtutaj
creation_date: 2023-05-31T21:45:58Z

[Term]
id: DOID:0081365
name: Paget's disease of bone 2
alt_id: DOID:9003060
def: "A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24988994/ "DO"]
synonym: "Paget disease of bone-2" EXACT []
synonym: "Paget Disease of Bone 2, Early-Onset" EXACT []
synonym: "PDB2" EXACT []
xref: MIM:602080
xref: MONDO:0011183
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5408 ! Paget's disease of bone
created_by: mtutaj
creation_date: 2023-05-31T21:48:46Z

[Term]
id: DOID:0081366
name: Paget's disease of bone 3
alt_id: DOID:9007946
def: "A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24988994/ "DO"]
synonym: "Paget Disease of Bone 3" EXACT []
synonym: "PDB3" EXACT []
xref: MIM:167250
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5408 ! Paget's disease of bone
created_by: mtutaj
creation_date: 2023-06-01T14:01:37Z

[Term]
id: DOID:0081367
name: Paget's disease of bone 4
alt_id: DOID:9006119
alt_id: MIM:606263
def: "A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11473345/ "DO"]
synonym: "Paget Disease of Bone 4" EXACT []
synonym: "PDB4" EXACT []
xref: MESH:C565240
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5408 ! Paget's disease of bone
created_by: mtutaj
creation_date: 2023-06-01T14:03:53Z

[Term]
id: DOID:0081368
name: Paget's disease of bone 5
alt_id: DOID:9005421
alt_id: MIM:239000
def: "A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25108083/ "DO"]
synonym: "chronic congenital idiopathic hyperphosphatasemia" EXACT []
synonym: "elevated alkaline phosphatase" BROAD []
synonym: "familial idiopathic hyperphosphatasemia" EXACT []
synonym: "familial idiopathic hyperphosphatasia" EXACT []
synonym: "familial osteoectasia" EXACT []
synonym: "Hereditary hyperphosphatasia" EXACT []
synonym: "hyperostosis corticalis deformans juvenilis" EXACT []
synonym: "hyperphosphatasemia with bone disease" EXACT []
synonym: "Idiopathic Hyperphosphatasia" EXACT []
synonym: "JPD" EXACT []
synonym: "juvenile Paget's disease" EXACT []
synonym: "juvenile Paget disease" EXACT []
synonym: "osteochalasia desmalis familiaris" EXACT []
synonym: "osteoectasia with hyperphosphatasia" EXACT []
synonym: "Paget disease of bone-5" EXACT []
synonym: "Paget Disease of Bone 5, Juvenile-Onset" EXACT []
synonym: "PDB5" EXACT []
xref: GARD:2831
xref: MESH:C537701
xref: NCI:C131861
xref: ORDO:2801
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5408 ! Paget's disease of bone
created_by: mtutaj
creation_date: 2023-06-01T14:05:18Z

[Term]
id: DOID:0081369
name: Paget's disease of bone 6
alt_id: DOID:9001120
def: "A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26849110/ "DO"]
synonym: "Paget Disease of Bone 6" EXACT []
synonym: "PDB6" EXACT []
xref: MIM:616833
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:5408 ! Paget's disease of bone
created_by: mtutaj
creation_date: 2023-06-01T14:07:09Z

[Term]
id: DOID:0081370
name: LADD syndrome
def: "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers. (DO)" [https://medlineplus.gov/genetics/condition/lacrimo-auriculo-dento-digital-syndrome/ "DO"]
synonym: "Lacrimo-auriculo-dento-digital (LADD) syndrome" EXACT []
synonym: "lacrimoauriculodentodigital syndrome" EXACT []
synonym: "LADD" EXACT []
synonym: "Levy Hollister syndrome" EXACT []
xref: MESH:C538132
xref: MIM:PS149730
xref: ORDO:2363
is_a: DOID:11193 ! syndactyly
is_a: DOID:1400 ! lacrimal apparatus disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9009007 ! Tooth Abnormalities
created_by: mtutaj
creation_date: 2023-06-29T19:45:51Z

[Term]
id: DOID:0081371
name: lacrimoauriculodentodigital syndrome 2
alt_id: DOID:9002835
def: "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16501574/ "DO"]
synonym: "Lacrimo-auriculo-dento-digital syndrome 2" EXACT []
synonym: "LADD2" EXACT []
synonym: "LADD Syndrome 2" EXACT []
xref: MIM:620192
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081370 ! LADD syndrome
created_by: mtutaj
creation_date: 2023-06-29T22:07:31Z

[Term]
id: DOID:0081372
name: lacrimoauriculodentodigital syndrome 3
alt_id: DOID:9008206
def: "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16630169/ "DO"]
synonym: "Lacrimo-auriculo-dento-digital syndrome 3" EXACT []
synonym: "LADD3" EXACT []
synonym: "LADD Syndrome 3" EXACT []
xref: MIM:620193
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081370 ! LADD syndrome
created_by: mtutaj
creation_date: 2023-06-29T22:09:45Z

[Term]
id: DOID:0081373
name: disabling pansclerotic morphea
alt_id: DOID:0080002
def: "A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30838436/ "DO", https://pubmed.ncbi.nlm.nih.gov/37256972/ "DO"]
synonym: "disabling pansclerotic morphea of childhood" EXACT []
synonym: "juvenile localized scleroderma" EXACT []
synonym: "STAT4-RELATED CONDITION" BROAD []
xref: MIM:620443
is_a: DOID:8472 ! localized scleroderma
created_by: mtutaj
creation_date: 2023-08-08T09:03:21Z

[Term]
id: DOID:0081374
name: nemaline myopathy 5B
alt_id: DOID:0080003
def: "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35165004/ "DO"]
synonym: "NEM5B" EXACT []
synonym: "NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET" EXACT []
xref: MIM:620386
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3191 ! nemaline myopathy
created_by: mtutaj
creation_date: 2023-08-08T09:09:04Z

[Term]
id: DOID:0081375
name: nemaline myopathy 5C
alt_id: DOID:0080004
def: "A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35510366/ "DO"]
synonym: "NEM5C" EXACT []
synonym: "NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT" EXACT []
xref: MIM:620389
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3191 ! nemaline myopathy
created_by: mtutaj
creation_date: 2023-08-08T09:11:06Z

[Term]
id: DOID:0081377
name: COX deficiency, benign infantile mitochondrial myopathy
alt_id: DOID:0080035
def: "A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. (DO)" [https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ "DO"]
synonym: "isolated cytochrome C oxidase deficiency" EXACT []
xref: GARD:48
xref: ORDO:254905
is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease
created_by: mtutaj
creation_date: 2023-08-08T09:14:16Z

[Term]
id: DOID:0081378
name: amyotrophic lateral sclerosis type 24
alt_id: DOID:9009135
def: "An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26945885/ "DO"]
synonym: "ALS24" EXACT []
synonym: "amyotrophic lateral sclerosis 24" EXACT []
synonym: "NEK1-RELATED CONDITION" BROAD []
synonym: "susceptibility to amyotrophic lateral sclerosis-24" RELATED []
xref: MIM:617892
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: mtutaj
creation_date: 2023-10-23T10:46:43Z

[Term]
id: DOID:0081379
name: amyotrophic lateral sclerosis type 25
alt_id: DOID:9009136
def: "An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively). (DO)" [https://pubmed.ncbi.nlm.nih.gov/29566793/ "DO"]
synonym: "ALS25" EXACT []
synonym: "amyotrophic lateral sclerosis 25" EXACT []
synonym: "KIF5A-related amyotrophic lateral sclerosis" EXACT []
synonym: "susceptibility to amyotrophic lateral sclerosis-25" RELATED []
xref: MIM:617921
xref: NCI:C189922
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: mtutaj
creation_date: 2023-10-23T10:46:57Z

[Term]
id: DOID:0081380
name: amyotrophic lateral sclerosis type 26
alt_id: DOID:9004406
def: "An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28817800/ "DO"]
synonym: "ALS26" EXACT []
synonym: "amyotrophic lateral sclerosis 26" EXACT []
synonym: "amyotrophic lateral sclerosis-26 with or without frontotemporal dementia" EXACT []
xref: MIM:619133
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: mtutaj
creation_date: 2023-10-23T10:47:14Z

[Term]
id: DOID:0081381
name: juvenile amyotrophic lateral sclerosis type 27
alt_id: DOID:9005364
def: "An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34059824/ "DO"]
synonym: "ALS27" EXACT []
synonym: "AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE" EXACT []
synonym: "amyotrophic lateral sclerosis type 27" EXACT []
xref: MIM:620285
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis
created_by: mtutaj
creation_date: 2023-10-23T10:47:27Z

[Term]
id: DOID:0081382
name: amyotrophic lateral sclerosis type 28
alt_id: DOID:9007566
def: "An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37339631/ "DO"]
synonym: "ALS28" EXACT []
synonym: "amyotrophic lateral sclerosis 28" EXACT []
xref: MIM:620452
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: mtutaj
creation_date: 2023-10-23T10:47:39Z

[Term]
id: DOID:0081383
name: ataxia-oculomotor apraxia type 4
alt_id: DOID:9004565
def: "An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25728773/ "DO"]
synonym: "AOA4" EXACT []
synonym: "Ataxia-Oculomotor Apraxia 4" EXACT []
synonym: "Ataxia with Oculomotor Apraxia Type 4" EXACT []
xref: EFO:0009016
xref: GARD:13111
xref: MIM:616267
xref: ORDO:459033
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
is_a: DOID:0060135 ! apraxia
is_a: DOID:12704 ! ataxia telangiectasia
is_a: DOID:9002525 ! Hereditary Eye Diseases
created_by: mtutaj
creation_date: 2023-11-30T15:30:18Z

[Term]
id: DOID:0081384
name: ataxia-telangiectasia-like disorder-1
alt_id: DOID:9007720
def: "An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10612394/ "DO"]
synonym: "ATLD1" EXACT []
synonym: "MRE11-RELATED CONDITION" EXACT []
xref: MIM:604391
xref: NCI:C132224
xref: ORDO:251347
is_a: DOID:9004583 ! Ataxia Telangiectasia Like Disorder
created_by: mtutaj
creation_date: 2023-11-30T15:32:12Z

[Term]
id: DOID:0081385
name: ataxia-telangiectasia-like disorder-2
alt_id: DOID:9002196
def: "An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24911150/ "DO"]
synonym: "ATLD2" EXACT []
synonym: "PCNA-related progressive neurodegenerative photosensitivity syndrome" EXACT []
xref: MIM:615919
xref: ORDO:438134
is_a: DOID:9004583 ! Ataxia Telangiectasia Like Disorder
created_by: mtutaj
creation_date: 2023-11-30T15:34:16Z

[Term]
id: DOID:0081386
name: TANGO2-related metabolic encephalopathy and arrythmias
alt_id: DOID:9005324
def: "A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26805782/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK476443/ "DO"]
synonym: "MECRCN" EXACT []
synonym: "METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION" EXACT []
synonym: "recurrent metabolic encephalomyopathic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" EXACT []
synonym: "Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration" EXACT []
synonym: "TANGO2 deficiency" EXACT []
synonym: "TANGO2-RELATED CONDITION" EXACT []
xref: GARD:13423
xref: MIM:616878
xref: ORDO:480864
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:2367 ! neuroaxonal dystrophy
is_a: DOID:9000064 ! Cardiac Arrhythmias
is_a: DOID:9000884 ! Rhabdomyolysis
is_a: DOID:9005627 ! Metabolic Brain Diseases
created_by: mtutaj
creation_date: 2023-11-30T15:36:25Z

[Term]
id: DOID:0081387
name: neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
alt_id: DOID:9000593
def: "An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37054711/ "DO"]
synonym: "NEDMLOB" EXACT []
xref: MIM:620428
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2023-11-30T15:38:52Z

[Term]
id: DOID:0081388
name: primary progressive aphasia
alt_id: DOID:9008293
def: "A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21325651/ "DO", https://pubmed.ncbi.nlm.nih.gov/29392464/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993834/ "DO"]
synonym: "Mesulam's Syndrome" EXACT []
synonym: "Mesulam Syndrome" EXACT []
synonym: "Primary Progressive Aphasias" EXACT []
synonym: "Primary Progressive Aphasia, Susceptibility To" RELATED []
xref: EFO:0009053
xref: GARD:8541
xref: MESH:D018888
xref: ORDO:95432
is_a: DOID:0060046 ! aphasia
is_a: DOID:9255 ! frontotemporal dementia
created_by: mtutaj
creation_date: 2023-11-30T15:41:04Z

[Term]
id: DOID:0081389
name: logopenic progressive aphasia
def: "A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21325651/ "DO"]
synonym: "Logopenic primary progressive aphasia" EXACT []
synonym: "logopenic variant PPA" EXACT []
xref: GARD:10791
xref: ORDO:250831
is_a: DOID:0081388 ! primary progressive aphasia
created_by: mtutaj
creation_date: 2023-11-30T15:43:47Z

[Term]
id: DOID:0081390
name: progressive non-fluent aphasia
alt_id: DOID:9003457
def: "A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32047619/ "DO"]
synonym: "Agramatic variant of primary progressive aphasia" EXACT []
synonym: "nonfluent agrammatic PPA" EXACT []
synonym: "Non fluent Primary Progressive Aphasia" EXACT []
synonym: "PPA Syndrome" EXACT []
synonym: "PPA Syndromes" EXACT []
synonym: "Primary Progressive Nonfluent Aphasia" EXACT []
synonym: "Progressive Nonfluent Aphasia" EXACT []
synonym: "Progressive Nonfluent Aphasias" EXACT []
xref: GARD:10793
xref: MESH:D057178
xref: ORDO:100070
is_a: DOID:0081388 ! primary progressive aphasia
is_a: DOID:9002031 ! Frontotemporal Lobar Degeneration
created_by: mtutaj
creation_date: 2023-11-30T15:46:15Z

[Term]
id: DOID:0081391
name: semantic dementia
def: "A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28019640/ "DO"]
synonym: "semantic variant of primary progressive aphasia" EXACT []
synonym: "semantic variant PPA" EXACT []
xref: GARD:10792
xref: ORDO:100069
is_a: DOID:0081388 ! primary progressive aphasia
created_by: mtutaj
creation_date: 2023-11-30T15:48:10Z

[Term]
id: DOID:0081392
name: corticobasal degeneration syndrome
def: "A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34316603/ "DO"]
xref: ORDO:454887
is_a: DOID:9255 ! frontotemporal dementia
created_by: mtutaj
creation_date: 2023-11-30T15:50:11Z

[Term]
id: DOID:0081393
name: organophosphate-induced delayed polyneuropathy
def: "An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits. (DO)" [https://www.atsdr.cdc.gov/csem/cholinesterase-inhibitors/neuropathy.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/16042503 "DO"]
is_a: DOID:2537 ! inflammatory and toxic neuropathy
created_by: mtutaj
creation_date: 2023-11-30T15:51:28Z

[Term]
id: DOID:0081394
name: Caroli syndrome
def: "A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29643536/ "DO", https://pubmed.ncbi.nlm.nih.gov/30020679/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK513307/ "DO"]
synonym: "Caroli's syndrome" EXACT []
xref: GARD:6002
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:272 ! hepatic vascular disease
is_a: DOID:4138 ! bile duct disease
is_a: DOID:866 ! vein disease
created_by: mtutaj
creation_date: 2023-11-30T15:52:46Z

[Term]
id: DOID:0081395
name: Harel-Yoon syndrome
alt_id: DOID:9006186
def: "A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27640307/ "DO"]
synonym: "HAYOS" EXACT []
synonym: "Ocular anomalies-axonal neuropathy-developmental delay syndrome" EXACT []
xref: MIM:617183
xref: ORDO:496790
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008514 ! Psychomotor Disorders
created_by: mtutaj
creation_date: 2023-12-20T21:04:43Z

[Term]
id: DOID:0081396
name: neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
alt_id: DOID:9000870
def: "A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28549128/ "DO"]
synonym: "PHRINL" EXACT []
synonym: "PHRINL SYNDROME" EXACT []
xref: MIM:618810
xref: ORDO:615983
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060264 ! pontocerebellar hypoplasia
is_a: DOID:11162 ! respiratory failure
is_a: DOID:225 ! syndrome
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: mtutaj
creation_date: 2023-12-20T21:06:57Z

[Term]
id: DOID:0081397
name: Vissers-Bodmer syndrome
alt_id: DOID:9004008
def: "A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32553196/ "DO"]
synonym: "CNOT1-RELATED DISORDER" BROAD []
synonym: "VIBOS" EXACT []
xref: MIM:619033
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:92 ! speech disorder
created_by: mtutaj
creation_date: 2023-12-20T21:09:50Z

[Term]
id: DOID:0081398
name: holoprosencephaly 12
alt_id: DOID:9004991
def: "A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31006510/ "DO"]
synonym: "CNOT1-RELATED DISORDER" BROAD []
synonym: "holoprosencephaly 12, with or without pancreatic agenesis" EXACT []
synonym: "HPE12" EXACT []
xref: MIM:618500
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4621 ! holoprosencephaly
created_by: mtutaj
creation_date: 2023-12-20T21:11:44Z

[Term]
id: DOID:0081399
name: autosomal dominant distal hereditary motor neuronopathy 10
alt_id: DOID:9000162
def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31978608/ "DO"]
synonym: "DHMN10" EXACT []
synonym: "Distal Hereditary Motor Neuronopathy Type 10" EXACT []
synonym: "distal hereditary motor neuronopathy type X" EXACT []
synonym: "distal hereditary motor neuropathy 10" EXACT []
synonym: "distal hereditary motor neuropathy type X" EXACT []
synonym: "EMILIN-1-RELATED DISEASE" EXACT []
synonym: "HMN10" EXACT []
synonym: "HMND10" EXACT []
xref: MIM:620080
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy
created_by: mtutaj
creation_date: 2024-01-31T11:34:23Z

[Term]
id: DOID:0081400
name: autosomal dominant distal hereditary motor neuronopathy 11
alt_id: DOID:9005325
def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33206935/ "DO"]
synonym: "DHMN11" EXACT []
synonym: "distal hereditary motor neuronopathy 11" EXACT []
synonym: "distal hereditary motor neuropathy type 11" EXACT []
synonym: "HMND11" EXACT []
xref: MIM:620528
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy
created_by: mtutaj
creation_date: 2024-01-31T11:37:21Z

[Term]
id: DOID:0081401
name: autosomal dominant distal hereditary motor neuronopathy 13
alt_id: DOID:9006235
def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20806400/ "DO"]
synonym: "DHMN5C" EXACT []
synonym: "DHMN VC" EXACT []
synonym: "distal hereditary motor neuronopathy, Harding type VC" EXACT []
synonym: "Distal Hereditary Motor Neuronopathy Type 5C" EXACT []
synonym: "distal hereditary motor neuronopathy type VC" EXACT []
synonym: "distal hereditary motor neuropathy, Harding type VC" EXACT []
synonym: "distal hereditary motor neuropathy type VC" EXACT []
synonym: "distal spinal muscular atrophy, Harding type VC" EXACT []
synonym: "distal spinal muscular atrophy type 5C" EXACT []
synonym: "distal spinal muscular atrophy type VC" EXACT []
synonym: "DSMA5C" EXACT []
synonym: "DSMAVC" EXACT []
synonym: "HMN5C" EXACT []
synonym: "HMND13" EXACT []
xref: MIM:619112
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy
created_by: mtutaj
creation_date: 2024-01-31T11:43:35Z

[Term]
id: DOID:0081402
name: sarcoma with BCOR genetic alterations
def: "A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35730501/ "DO", https://pubmed.ncbi.nlm.nih.gov/36202860/ "DO"]
synonym: "BCOR-Rearranged Sarcoma" EXACT []
xref: ICDO:9368/3
xref: NCI:C178465
is_a: DOID:3098 ! small cell sarcoma
created_by: mtutaj
creation_date: 2024-01-31T11:46:26Z

[Term]
id: DOID:0081403
name: BCOR ITD sarcoma
def: "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36202860/ "DO"]
xref: NCI:C178468
is_a: DOID:0081402 ! sarcoma with BCOR genetic alterations
created_by: mtutaj
creation_date: 2024-01-31T11:47:23Z

[Term]
id: DOID:0081404
name: BCOR-CCNB3 sarcoma
def: "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36202860/ "DO"]
xref: NCI:C178466
is_a: DOID:0081402 ! sarcoma with BCOR genetic alterations
created_by: mtutaj
creation_date: 2024-01-31T11:48:21Z

[Term]
id: DOID:0081405
name: childhood sarcoma with BCOR genetic alterations
def: "A sarcoma with BCOR genetic alterations that occurs during childhood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36202860/ "DO"]
xref: NCI:C189007
is_a: DOID:0081402 ! sarcoma with BCOR genetic alterations
created_by: mtutaj
creation_date: 2024-01-31T11:49:10Z

[Term]
id: DOID:0081406
name: round cell sarcoma with EWSR1-non-ETS fusion
def: "A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35430129/ "DO"]
synonym: "Ewing-Like Sarcoma or Round Cell Sarcoma" EXACT []
xref: ICDO:9366/3
xref: NCI:C178459
is_a: DOID:3098 ! small cell sarcoma
created_by: mtutaj
creation_date: 2024-01-31T11:49:53Z

[Term]
id: DOID:0081407
name: childhood round cell sarcoma with EWSR1-non-ETS fusion
def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36202860/ "DO"]
xref: NCI:C189003
is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion
created_by: mtutaj
creation_date: 2024-01-31T11:50:50Z

[Term]
id: DOID:0081408
name: round cell sarcoma with EWSR1-NFATC2 gene fusion
def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35430129/ "DO"]
xref: NCI:C178460
is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion
created_by: mtutaj
creation_date: 2024-01-31T11:51:39Z

[Term]
id: DOID:0081409
name: round cell sarcoma with EWSR1-PATZ1 gene fusion
def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30379650/ "DO"]
xref: NCI:C178461
is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion
created_by: mtutaj
creation_date: 2024-01-31T11:52:38Z

[Term]
id: DOID:0081410
name: round cell sarcoma with FUS-NFATC2 gene fusion
def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31078563/ "DO"]
xref: NCI:C178462
is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion
created_by: mtutaj
creation_date: 2024-01-31T11:53:27Z

[Term]
id: DOID:0081411
name: B acute lymphoblastic leukemia with PAX5 P80R mutation
def: "A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30510083/ "DO", https://pubmed.ncbi.nlm.nih.gov/32463891/ "DO", https://pubmed.ncbi.nlm.nih.gov/36241730/ "DO"]
xref: NCI:C199260
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma
created_by: mtutaj
creation_date: 2024-01-31T11:54:15Z

[Term]
id: DOID:0081412
name: B acute lymphoblastic leukemia with DUX4 rearrangement
def: "A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36602820/ "DO"]
xref: NCI:C199232
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma
created_by: mtutaj
creation_date: 2024-01-31T11:55:11Z

[Term]
id: DOID:0081413
name: renal cell carcinoma with MiT translocations
def: "A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25758327/ "DO", https://pubmed.ncbi.nlm.nih.gov/31382581/ "DO", https://pubmed.ncbi.nlm.nih.gov/36672892/ "DO", https://pubmed.ncbi.nlm.nih.gov/37060647/ "DO"]
synonym: "MiT Family Translocation-Associated Renal Cell Carcinoma" EXACT []
synonym: "MiT family translocation renal cell carcinoma" EXACT []
xref: ICDO:8311/3
xref: NCI:C154494
is_a: DOID:4450 ! renal cell carcinoma
created_by: mtutaj
creation_date: 2024-01-31T11:56:04Z

[Term]
id: DOID:0081414
name: TFEB-rearranged renal cell carcinoma
def: "A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36830782/ "DO"]
synonym: "Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB" EXACT []
synonym: "t(6;11);(p21;q12) Renal Cell Carcinoma" EXACT []
synonym: "t(6;11) Renal Cell Carcinoma" EXACT []
xref: NCI:C37210
is_a: DOID:0081413 ! renal cell carcinoma with MiT translocations
created_by: mtutaj
creation_date: 2024-01-31T11:57:03Z

[Term]
id: DOID:0081415
name: TFE3-rearranged renal cell carcinoma
def: "A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/38104891/ "DO"]
synonym: "Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions" EXACT []
synonym: "Xp11 Translocation Renal Cell Carcinoma" EXACT []
xref: EFO:1000508
xref: NCI:C27891
is_a: DOID:0081413 ! renal cell carcinoma with MiT translocations
created_by: mtutaj
creation_date: 2024-01-31T11:57:55Z

[Term]
id: DOID:0081416
name: childhood renal cell carcinoma with MiT translocations
def: "A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37528880/ "DO"]
xref: NCI:C189242
is_a: DOID:0081413 ! renal cell carcinoma with MiT translocations
created_by: mtutaj
creation_date: 2024-01-31T11:58:44Z

[Term]
id: DOID:0081417
name: poorly differentiated chordoma
def: "A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29483606/ "DO", https://pubmed.ncbi.nlm.nih.gov/34482218/ "DO"]
xref: ICDO:9370/3
xref: NCI:C177898
is_a: DOID:3302 ! chordoma
created_by: mtutaj
creation_date: 2024-01-31T11:59:30Z

[Term]
id: DOID:0081418
name: anaplastic sarcoma of the kidney
def: "A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17895746/ "DO", https://pubmed.ncbi.nlm.nih.gov/27006300/ "DO", https://pubmed.ncbi.nlm.nih.gov/28862265/ "DO"]
xref: ICDO:8802/3
xref: NCI:C154496
is_a: DOID:4242 ! kidney sarcoma
created_by: mtutaj
creation_date: 2024-01-31T12:00:28Z

[Term]
id: DOID:0081419
name: childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
alt_id: DOID:9003458
def: "A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35.  Optic atrophy develops around the same time or slightly later. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27817865/ "DO"]
synonym: "DYSTONIA 29, CHILDHOOD-ONSET" EXACT []
synonym: "DYT29" EXACT []
synonym: "DYTOABG" EXACT []
synonym: "MECR-related neurologic disorder" EXACT []
synonym: "MEPAN syndrome" EXACT []
synonym: "Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration" EXACT []
xref: GARD:13488
xref: MIM:617282
xref: ORDO:508093
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:543 ! dystonia
is_a: DOID:5723 ! optic atrophy
is_a: DOID:679 ! basal ganglia disease
created_by: mtutaj
creation_date: 2024-01-31T12:01:39Z

[Term]
id: DOID:0081420
name: familial focal epilepsy with variable foci
def: "A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK385626/ "DO"]
synonym: "DEPDC5-related epilepsy" EXACT []
synonym: "FFEVF" EXACT []
synonym: "FPEVF" EXACT []
xref: GARD:13295
xref: MIM:PS604364
xref: ORDO:98820
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2234 ! focal epilepsy
created_by: mtutaj
creation_date: 2024-01-31T12:04:22Z

[Term]
id: DOID:0081421
name: familial focal epilepsy with variable foci 1
alt_id: DOID:9001601
alt_id: MIM:604364
def: "A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32848577/ "DO"]
synonym: "DEPDC5-related disorder" BROAD []
synonym: "FFEVF1" EXACT []
synonym: "partial epilepsy with variable foci" EXACT []
xref: MESH:C565785
xref: NCI:C161005
is_a: DOID:0081420 ! familial focal epilepsy with variable foci
created_by: mtutaj
creation_date: 2024-01-31T12:06:30Z

[Term]
id: DOID:0081422
name: familial focal epilepsy with variable foci 2
alt_id: DOID:9000342
def: "A familial focal epilepsy with variable foci that has_material_basis_in  heterozygous mutation in the NPRL2 gene on chromosome 3p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26505888/ "DO"]
synonym: "FFEVF2" EXACT []
synonym: "NPRL2-RELATED CONDITION" EXACT []
xref: MIM:617116
is_a: DOID:0081420 ! familial focal epilepsy with variable foci
created_by: mtutaj
creation_date: 2024-01-31T12:06:44Z

[Term]
id: DOID:0081423
name: familial focal epilepsy with variable foci 3
alt_id: DOID:9006565
def: "A familial focal epilepsy with variable foci that has_material_basis_in  heterozygous mutation in the NPRL3 gene on chromosome 16p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26505888/ "DO"]
synonym: "FFEVF3" EXACT []
synonym: "NPRL3-RELATED CONDITION" EXACT []
xref: MIM:617118
is_a: DOID:0081420 ! familial focal epilepsy with variable foci
created_by: mtutaj
creation_date: 2024-01-31T12:06:53Z

[Term]
id: DOID:0081424
name: familial focal epilepsy with variable foci 4
alt_id: DOID:9009166
def: "A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28235671/ "DO"]
synonym: "FFEVF4" EXACT []
synonym: "SCN3A-RELATED CONDITION" BROAD []
synonym: "SCN3A-related disorder" BROAD []
xref: MIM:617935
is_a: DOID:0081420 ! familial focal epilepsy with variable foci
created_by: mtutaj
creation_date: 2024-01-31T12:07:18Z

[Term]
id: DOID:0081425
name: autosomal recessive distal hereditary motor neuronopathy 6
alt_id: DOID:9003231
def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31872057/ "DO"]
synonym: "distal hereditary motor neuropathy, autosomal recessive 6" EXACT []
synonym: "distal spinal muscular atrophy, autosomal recessive, 6" EXACT []
synonym: "Distal Spinal Muscular Atrophy Type 6" EXACT []
synonym: "DSMA6" EXACT []
synonym: "HMNR6" EXACT []
xref: MIM:620011
is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy
created_by: mtutaj
creation_date: 2024-01-31T12:16:45Z

[Term]
id: DOID:0081426
name: autosomal recessive distal hereditary motor neuronopathy 7
alt_id: DOID:9000655
def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33459760/ "DO", https://pubmed.ncbi.nlm.nih.gov/33559681/ "DO"]
synonym: "distal hereditary motor neuropathy, autosomal recessive 7" EXACT []
synonym: "hereditary motor neuropathy with myopathic features" EXACT []
synonym: "HMNMYO" EXACT []
synonym: "HMNR7" EXACT []
xref: MIM:619216
is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy
is_a: DOID:9884 ! muscular dystrophy
created_by: mtutaj
creation_date: 2024-01-31T12:18:54Z

[Term]
id: DOID:0081427
name: autosomal recessive distal hereditary motor neuronopathy 8
alt_id: DOID:0080025
alt_id: DOID:0081376
alt_id: DOID:9006739
def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32367058/ "DO"]
synonym: "distal hereditary motor neuronopathy, autosomal recessive 8" EXACT []
synonym: "distal hereditary motor neuropathy, autosomal recessive 8" EXACT []
synonym: "HMNR8" EXACT []
synonym: "sorbitol dehydrogenase deficiency" EXACT []
synonym: "sorbitol dehydrogenase deficiency with peripheral neuropathy" EXACT []
synonym: "SORDD" EXACT []
xref: MIM:618912
is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy
is_a: DOID:9006079 ! Inherited Peripheral Neuropathy
created_by: mtutaj
creation_date: 2024-01-31T12:20:36Z

[Term]
id: DOID:0081428
name: autosomal recessive distal hereditary motor neuronopathy 9
alt_id: DOID:9006160
def: "An autosomal recessive distal hereditary motor neuronopathy characterized by  juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36454683/ "DO"]
synonym: "distal hereditary motor neuropathy, autosomal recessive 9" EXACT []
synonym: "HMNR9" EXACT []
xref: MIM:620402
is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy
created_by: mtutaj
creation_date: 2024-01-31T12:23:58Z

[Term]
id: DOID:0081429
name: autosomal recessive distal hereditary motor neuronopathy 10
alt_id: DOID:9003914
def: "An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35641352/ "DO"]
synonym: "distal hereditary motor neuropathy, autosomal recessive 10" EXACT []
synonym: "HMNR10" EXACT []
synonym: "VRK1-related motor neuron disease" EXACT []
xref: MIM:620542
is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy
created_by: mtutaj
creation_date: 2024-01-31T12:25:24Z

[Term]
id: DOID:0081430
name: intellectual developmental disorder with autistic features and language delay, with or without seizures
alt_id: DOID:9008432
def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31616000/ "DO"]
synonym: "IDDALDS" EXACT []
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES" NARROW []
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES" NARROW []
synonym: "TANC2-RELATED CONDITION" EXACT []
xref: MIM:618906
is_a: DOID:0060041 ! autism spectrum disorder
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:1826 ! epilepsy
is_a: DOID:9005466 ! Language Development Disorders
created_by: mtutaj
creation_date: 2024-02-28T17:17:30Z

[Term]
id: DOID:0081431
name: microcephaly, short stature, and limb abnormalities
alt_id: DOID:9002832
def: "An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28191891/ "DO"]
synonym: "DONSON-RELATED CONDITION" BROAD []
synonym: "DONSON-related microcephaly-short stature-limb abnormalities spectrum" EXACT []
synonym: "MISSLA" EXACT []
xref: MIM:617604
xref: ORDO:572761
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
created_by: mtutaj
creation_date: 2024-04-01T11:33:01Z

[Term]
id: DOID:0081432
name: microcephaly-micromelia syndrome
alt_id: DOID:9002621
alt_id: MIM:251230
def: "A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28630177/ "DO"]
synonym: "DONSON-RELATED CONDITION" BROAD []
xref: MESH:C565382
xref: ORDO:572768
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
created_by: mtutaj
creation_date: 2024-04-01T11:35:49Z

[Term]
id: DOID:0081433
name: Peroxisome biogenesis disorder 4B
alt_id: DOID:9002864
def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"]
synonym: "PBD4B" EXACT []
xref: MIM:614863
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
created_by: mtutaj
creation_date: 2024-04-01T11:38:10Z

[Term]
id: DOID:0081434
name: Peroxisome biogenesis disorder 5B
alt_id: DOID:9008800
def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"]
synonym: "PBD5B" EXACT []
synonym: "PEX2-RELATED CONDITION" BROAD []
xref: MIM:614867
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
created_by: mtutaj
creation_date: 2024-04-01T11:43:30Z

[Term]
id: DOID:0081435
name: Peroxisome biogenesis disorder 6B
alt_id: DOID:9006522
def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"]
synonym: "PBD6B" EXACT []
xref: MIM:614871
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
created_by: mtutaj
creation_date: 2024-04-01T11:44:49Z

[Term]
id: DOID:0081436
name: Peroxisome biogenesis disorder 7B
alt_id: DOID:9002413
def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"]
synonym: "PBD7B" EXACT []
xref: MIM:614873
xref: NCI:C155761
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
created_by: mtutaj
creation_date: 2024-04-01T11:45:59Z

[Term]
id: DOID:0081437
name: Peroxisome biogenesis disorder 8B
alt_id: DOID:9004875
def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"]
synonym: "PBD8B" EXACT []
synonym: "PEROXISOME BIOGENESIS DISORDER DUE TO PEX16 DEFECT" BROAD []
xref: MIM:614877
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
created_by: mtutaj
creation_date: 2024-04-01T11:47:17Z

[Term]
id: DOID:0081438
name: Peroxisome biogenesis disorder 9B
alt_id: DOID:9006365
alt_id: MIM:614879
def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12325024/ "DO"]
synonym: "Adult Refsum Disease, 2" EXACT []
synonym: "PBD9B" EXACT []
synonym: "PEROXISOME BIOGENESIS DISORDER, PEX7-RELATED, ATYPICAL" EXACT []
xref: MESH:C567603
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10582 ! Refsum disease
is_a: DOID:9004029 ! Peroxisome Biogenesis Disorder, Complementation Group 9
created_by: mtutaj
creation_date: 2024-04-01T11:49:14Z

[Term]
id: DOID:0081439
name: Peroxisome biogenesis disorder 11B
alt_id: DOID:9005083
def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"]
synonym: "PBD11B" EXACT []
xref: MIM:614885
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
created_by: mtutaj
creation_date: 2024-04-01T11:51:44Z

[Term]
id: DOID:0081440
name: Peroxisome biogenesis disorder 10B
alt_id: DOID:9006868
def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"]
synonym: "PBD10B" EXACT []
synonym: "PEX3-RELATED CONDITION" BROAD []
xref: MIM:617370
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
created_by: mtutaj
creation_date: 2024-04-01T11:53:08Z

[Term]
id: DOID:0081441
name: Nicolaides-Baraitser syndrome
alt_id: DOID:9003531
def: "A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19606471/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK321516/ "DO"]
synonym: "Intellectual disability-sparse hair-brachydactyly syndrome" EXACT []
synonym: "NBS" EXACT []
synonym: "NCBRS" EXACT []
synonym: "SMARCA2-RELATED BAFOPATHY" BROAD []
synonym: "SMARCA2-RELATED CONDITION" BROAD []
synonym: "sparse hair and mental retardation" EXACT []
synonym: "SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME" EXACT []
xref: GARD:270
xref: MESH:C536116
xref: MIM:601358
xref: ORDO:3051
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9001487 ! Facies
created_by: mtutaj
creation_date: 2024-04-01T11:54:35Z

[Term]
id: DOID:0081442
name: blepharophimosis-impaired intellectual development syndrome
alt_id: DOID:9008618
def: "A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32694869/ "DO"]
synonym: "BIS" EXACT []
synonym: "SMARCA2-RELATED BAFOPATHY" BROAD []
synonym: "SMARCA2-related blepharophimosis-intellectual disability syndrome" EXACT []
synonym: "SMARCA2-RELATED CONDITION" BROAD []
xref: MIM:619293
xref: ORDO:637013
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
created_by: mtutaj
creation_date: 2024-04-01T11:56:28Z

[Term]
id: DOID:0081443
name: Stolerman neurodevelopmental syndrome
alt_id: DOID:9007117
def: "A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31124279/ "DO", https://pubmed.ncbi.nlm.nih.gov/37196654/ "DO"]
synonym: "KDM6B-RELATED CONDITION" EXACT []
synonym: "NEDCFSA" EXACT []
synonym: "NEDSST" EXACT []
synonym: "Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities" EXACT []
xref: MIM:618505
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
created_by: mtutaj
creation_date: 2024-04-01T11:58:03Z

[Term]
id: DOID:0081444
name: neurodevelopmental disorder with poor growth and behavioral abnormalities
alt_id: DOID:9000845
def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34379057/ "DO", https://pubmed.ncbi.nlm.nih.gov/36604604/ "DO"]
synonym: "NEDGBA" EXACT []
xref: MIM:620242
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:9006257 ! Growth Disorders
created_by: mtutaj
creation_date: 2024-04-01T11:59:56Z

[Term]
id: DOID:0081445
name: sickle cell disease
def: "A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia). (DO)" [https://medlineplus.gov/genetics/condition/sickle-cell-disease "DO", https://www.ncbi.nlm.nih.gov/books/NBK1377/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK482164/ "DO"]
xref: MIM:603903
is_a: DOID:620 ! blood protein disease
created_by: mtutaj
creation_date: 2024-05-01T11:29:38Z

[Term]
id: DOID:0081446
name: dimethylglycine dehydrogenase deficiency
alt_id: DOID:9005574
def: "An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH on chromosome 5q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10102904/ "DO", https://pubmed.ncbi.nlm.nih.gov/11231903/ "DO"]
synonym: "DMG dehydrogenase deficiency" EXACT []
synonym: "DMGDHD" EXACT []
synonym: "DMGDH Deficiency" EXACT []
xref: MESH:C565278
xref: MIM:605850
xref: MONDO:0011610
xref: ORDO:243343
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2024-05-01T11:37:30Z

[Term]
id: DOID:0081447
name: cone-rod dystrophy 21
alt_id: DOID:9005737
def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26720460/ "DO"]
synonym: "CORD21" EXACT []
synonym: "RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT" BROAD []
xref: MIM:616502
xref: MONDO:0014669
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
created_by: mtutaj
creation_date: 2024-05-01T11:46:36Z

[Term]
id: DOID:0081448
name: cone-rod dystrophy 22
alt_id: DOID:9007876
def: "A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33077892/ "DO"]
synonym: "CORD22" EXACT []
xref: MIM:619531
xref: MONDO:0030440
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
created_by: mtutaj
creation_date: 2024-05-01T11:49:44Z

[Term]
id: DOID:0081449
name: cone-rod dystrophy 24
alt_id: DOID:9005636
def: "A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35947183/ "DO"]
synonym: "CORD24" EXACT []
synonym: "UNC119-RELATED CONDITION" BROAD []
xref: MIM:620342
xref: MONDO:0957240
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:0050736 ! autosomal dominant disease
created_by: mtutaj
creation_date: 2024-05-01T11:52:22Z

[Term]
id: DOID:0081450
name: hyperimmunoglobulinemia D periodic fever syndrome
def: "A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22041426/ "DO"]
synonym: "hyper IgD syndrome" EXACT []
synonym: "hyper IgD syndromes" EXACT []
synonym: "hyperimmunoglobulinemia D" EXACT []
synonym: "hyperimmunoglobulinemia D and periodic fever syndrome" EXACT []
synonym: "periodic fever, Dutch type" EXACT []
xref: GARD:2788
xref: MIM:260920
xref: MONDO:0009849
xref: ORDO:343
is_a: DOID:2959 ! hyperimmunoglobulin syndrome
created_by: mtutaj
creation_date: 2024-05-01T11:55:13Z

[Term]
id: DOID:0081451
name: PFAPA syndrome
alt_id: DOID:9007906
def: "An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8356195/ "DO"]
synonym: "Marshall syndrome with periodic fever" EXACT []
synonym: "Periodic fever and aphthous stomatitis with pharyngitis and cervical adenitis" EXACT []
synonym: "Periodic fever and aphthous stomatitis with pharyngitis and cervical adenitis syndrome" EXACT []
synonym: "Periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome" EXACT []
synonym: "periodic fever, aphthous stomatitis, pharyngitis and adenitis" EXACT []
synonym: "Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome" EXACT []
synonym: "PFAPA" EXACT []
xref: GARD:5657
xref: MONDO:0018540
xref: ORDO:42642
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9000972 ! Fever
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: mtutaj
creation_date: 2024-05-01T12:04:04Z

[Term]
id: DOID:0081452
name: large B-cell lymphoma
def: "A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37190213/ "DO"]
is_a: DOID:707 ! B-cell lymphoma
created_by: mtutaj
creation_date: 2024-04-30T16:42:46Z

[Term]
id: DOID:0081453
name: Dent disease 1
alt_id: DOID:9008579
def: "A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32248351/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK99494/ "DO"]
synonym: "DENT1" EXACT []
synonym: "Hypercalciuric Urolithiasis, X-Linked" EXACT []
synonym: "Nephrolithiasis 2" EXACT []
synonym: "Nephrolithiasis, hypercalciuria, x-linked" EXACT []
synonym: "Nephrolithiasis, Hypercalciuric, X-Linked" EXACT []
synonym: "NPHL2" EXACT []
xref: MESH:C538212
xref: MIM:300009
xref: MONDO:0010225
xref: ORDO:93622
is_a: DOID:0050699 ! Dent disease
created_by: mtutaj
creation_date: 2024-06-21T11:20:10Z

[Term]
id: DOID:0081454
name: Dent disease 2
alt_id: DOID:9007045
def: "A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15627218/ "DO"]
synonym: "DENT2" EXACT []
synonym: "dent disease type 2" EXACT []
xref: MESH:C564487
xref: MIM:300555
xref: MONDO:0010359
is_a: DOID:0050699 ! Dent disease
created_by: mtutaj
creation_date: 2024-06-21T12:25:23Z

[Term]
id: DOID:0081455
name: auto-brewery syndrome
def: "An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. (DO)" [https://en.wikipedia.org/wiki/Auto-brewery_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/38246992/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK513346/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667719/ "DO"]
synonym: "gut fermentation syndrome" EXACT []
is_a: DOID:0060158 ! acquired metabolic disease
created_by: mtutaj
creation_date: 2024-07-01T09:22:28Z

[Term]
id: DOID:0081456
name: bladder fermentation syndrome
def: "An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. (DO)" [https://pubmed.ncbi.nlm.nih.gov/38246992/ "DO"]
synonym: "urinary auto-brewery syndrome" EXACT []
is_a: DOID:0081455 ! auto-brewery syndrome
is_a: DOID:365 ! bladder disease
created_by: mtutaj
creation_date: 2024-07-01T09:24:48Z

[Term]
id: DOID:0081457
name: intrathyroid thymic carcinoma
def: "A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37925863/ "DO"]
synonym: "Carcinoma showing thymus-like differentiation" EXACT []
synonym: "Carcinoma showing thymus-like element" EXACT []
synonym: "CASTLE" EXACT []
synonym: "Thyroid_Gland_Carcinoma_Showing_Thymus-Like_Differentiation" EXACT []
xref: ICDO:8589/3
xref: NCI:C46106
is_a: DOID:3963 ! thyroid gland carcinoma
created_by: mtutaj
creation_date: 2024-07-01T09:28:21Z

[Term]
id: DOID:0081458
name: thyroid gland cribriform morular carcinoma
def: "A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35882545/ "DO"]
synonym: "Cribriform-Morular Variant Thyroid Gland Papillary Cancer" EXACT []
synonym: "Cribriform-Morular Variant Thyroid Gland Papillary Carcinoma" EXACT []
xref: NCI:C126408
is_a: DOID:3963 ! thyroid gland carcinoma
created_by: mtutaj
creation_date: 2024-07-01T09:30:19Z

[Term]
id: DOID:0081459
name: thyroid gland mixed medullary and follicular cell-derived carcinoma
def: "A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20574174/ "DO"]
synonym: "mixed medullary and follicular cell-derived carcinomas" EXACT []
synonym: "thyroid gland mixed medullary and follicular cell carcinoma" EXACT []
xref: EFO:1000589
xref: NCI:C46104
is_a: DOID:3963 ! thyroid gland carcinoma
created_by: mtutaj
creation_date: 2024-07-01T09:33:00Z

[Term]
id: DOID:0081460
name: thyroid gland mucinous carcinoma
def: "A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24466763/ "DO"]
xref: NCI:C156267
is_a: DOID:3963 ! thyroid gland carcinoma
created_by: mtutaj
creation_date: 2024-07-01T09:34:11Z

[Term]
id: DOID:0081461
name: thyroid gland spindle epithelial tumor with thymus-like elements
def: "A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21085772/ "DO"]
synonym: "SETTLE" EXACT []
synonym: "Spindle Epithelial Tumor with Thymus-Like Elements" EXACT []
synonym: "Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation" EXACT []
xref: NCI:C46105
is_a: DOID:3963 ! thyroid gland carcinoma
created_by: mtutaj
creation_date: 2024-07-01T09:36:14Z

[Term]
id: DOID:0090001
name: Fraser syndrome
alt_id: MIM:PS219000
def: "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12766769 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15838507 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16894541 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22510445 "DO"]
synonym: "cryptophthalmos-syndactyly syndrome" EXACT []
synonym: "cryptophthalmos with other malformations" EXACT []
xref: GARD:6465
xref: MESH:D058497
xref: NCI:C118436
xref: ORDO:2052
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111716 ! cryptophthalmia
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007870 ! Respiratory System Abnormalities

[Term]
id: DOID:0090002
name: Tietz syndrome
alt_id: MIM:103500
def: "A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. (DO)" [https://ghr.nlm.nih.gov/condition/tietz-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/13985019 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8589691 "DO"]
synonym: "albinism and complete nerve deafness" EXACT []
synonym: "albinism-deafness of Tietz" EXACT []
synonym: "hypopigmentation-deafness of Tietz" EXACT []
synonym: "TADS" EXACT []
synonym: "Tietz albinism-deafness syndrome" EXACT []
xref: GARD:7772
xref: MESH:C536919
xref: ORDO:42665
is_a: DOID:0050632 ! oculocutaneous albinism
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:0090003
name: agenesis of the corpus callosum with peripheral neuropathy
alt_id: DOID:0060600
alt_id: MIM:218000
def: "A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12368912 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12838516 "DO"]
synonym: "ACCPN" EXACT []
synonym: "agenesis of corpus callosum with neuronopathy" EXACT []
synonym: "Agenesis of Corpus Callosum with Peripheral Neuropathy" EXACT []
synonym: "Agenesis of Corpus Callosum with Polyneuropathy" EXACT []
synonym: "Andermann syndrome" EXACT []
synonym: "Charlevoix disease" EXACT []
synonym: "Corpus Callosum Agenesis Neuronopathy" EXACT []
synonym: "corpus callosum agenesis-neuronopathy syndrome" EXACT []
synonym: "hereditary motor and sensory neuropathy with agenesis of corpus callosum" EXACT []
synonym: "Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum" EXACT []
synonym: "sensorimotor polyneuropathy with or without agenesis of the corpus callosum" EXACT []
xref: MESH:C536446
xref: ORDO:1496
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:870 ! neuropathy
is_a: DOID:9001999 ! Agenesis of Corpus Callosum

[Term]
id: DOID:0090004
name: progressive pseudorheumatoid arthropathy of childhood
alt_id: MIM:208230
def: "A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15215498 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15601861 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6807993 "DO"]
synonym: "PPAC" EXACT []
synonym: "PPD" EXACT []
synonym: "progressive pseudorheumatoid dysplasia" EXACT []
synonym: "SEDT-PA" EXACT []
synonym: "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" EXACT []
synonym: "spondyloepiphyseal dysplasia tarda with progressive arthropathy" EXACT []
xref: MESH:C535387
xref: NCI:C202612
xref: ORDO:1159
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:0090005
name: Schwartz-Jampel syndrome 1
alt_id: DOID:9000985
alt_id: MESH:C565452
alt_id: MIM:245160
def: "A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11941538 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1552548 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18647752 "DO"]
synonym: "Aberfeld syndrome" EXACT []
synonym: "Burton skeletal dysplasia" EXACT []
synonym: "Burton syndrome" EXACT []
synonym: "Catel-Hempel syndrome" EXACT []
synonym: "Catel-Hempel type dysostosis enchondralis metaepiphysaria" EXACT []
synonym: "HSPG2-RELATED CONDITION" BROAD []
synonym: "HSPG2-RELATED DISORDER" BROAD []
synonym: "Kniest-like dysplasia with pursed lips and ectopia lentis" EXACT []
synonym: "myotonic chondrodystrophy" EXACT []
synonym: "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies" EXACT []
synonym: "osteochondromuscular dystrophy" EXACT []
synonym: "QUALITATIVE OR QUANTITATIVE DEFECTS OF PERLECAN" RELATED []
synonym: "QUALITATIVE OR QUANTITATIVE DEFECTS OF PLECTIN" RELATED []
synonym: "Schwartz-Jampel-Aberfeld syndrome" EXACT []
synonym: "Schwartz Jampel syndrome" EXACT []
synonym: "Schwartz-Jampel syndrome, type 1" EXACT []
synonym: "SJS" EXACT []
synonym: "SJS1" EXACT []
xref: GARD:250
xref: MIM:255800
xref: NCI:C35008
xref: ORDO:800
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9004201 ! Ectopia Lentis
is_a: DOID:9008499 ! Microstomia
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0090006
name: renal coloboma syndrome
alt_id: MIM:120330
def: "A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10466411 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7795640 "DO"]
synonym: "CAKUT with or without ocular abnormalities" EXACT []
synonym: "coloboma of optic nerve with renal disease" EXACT []
synonym: "Coloboma-Ureteral-Renal Syndrome" EXACT []
synonym: "CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OR WITHOUT OCULAR ABNORMALITIES" EXACT []
synonym: "isolated renal hypoplasia" EXACT []
synonym: "Optic coloboma, vesicoureteral reflux, and renal anomalies" EXACT []
synonym: "Optic Nerve Coloboma Renal Syndrome" EXACT []
synonym: "Optic nerve coloboma with renal disease" EXACT []
synonym: "Papillorenal syndrome" EXACT []
synonym: "papillo-renal syndrome, optic nerve coloboma with renal disease" EXACT []
synonym: "Papillorenal syndrome with macular abnormalities" NARROW []
synonym: "PAPRS" EXACT []
synonym: "PAX2-RELATED CONDITION" BROAD []
synonym: "renal-coloboma syndrome with macular abnormalities" EXACT []
xref: GARD:4106
xref: MESH:C537168
xref: ORDO:1475
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080205 ! CAKUT
is_a: DOID:1074 ! kidney failure
is_a: DOID:12270 ! coloboma
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0090007
name: immunodeficiency-centromeric instability-facial anomalies syndrome
def: "A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17893117 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26216346 "DO"]
synonym: "centromeric instability, immunodeficiency syndrome" EXACT []
synonym: "ICF syndrome" EXACT []
synonym: "immunodeficiency syndrome, variable" EXACT []
xref: MESH:C537362
xref: MIM:PS242860
xref: ORDO:2268
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9004814 ! Chromosome Aberrations
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0090008
name: immunodeficiency-centromeric instability-facial anomalies syndrome 1
def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10647011 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17893117 "DO"]
synonym: "CENTROMERIC INSTABILITY OF CHROMOSOMES 1,9 AND 16 AND IMMUNODEFICIENCY" EXACT []
synonym: "CIID" EXACT []
synonym: "ICF1" EXACT []
synonym: "ICF syndrome 1" EXACT []
synonym: "IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16" EXACT []
xref: MIM:242860
xref: NCI:C156430
is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome

[Term]
id: DOID:0090009
name: immunodeficiency-centromeric instability-facial anomalies syndrome 2
def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21596365 "DO"]
synonym: "ICF2" EXACT []
synonym: "ICF syndrome 2" EXACT []
synonym: "IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME TYPE 2" EXACT []
xref: MIM:614069
is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome

[Term]
id: DOID:0090010
name: immunodeficiency-centromeric instability-facial anomalies syndrome 3
def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26216346 "DO"]
synonym: "ICF3" EXACT []
synonym: "ICF syndrome 3" EXACT []
xref: MIM:616910
is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome

[Term]
id: DOID:0090011
name: immunodeficiency-centromeric instability-facial anomalies syndrome 4
def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26216346 "DO"]
synonym: "ICF4" EXACT []
synonym: "ICF syndrome 4" EXACT []
xref: ICD10CM:D84.8
xref: MIM:616911
is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome

[Term]
id: DOID:0090012
name: severe combined immunodeficiency with sensitivity to ionizing radiation
alt_id: DOID:0060006
alt_id: MIM:602450
def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11336668 "DO"]
synonym: "artemis deficiency" EXACT []
synonym: "Athabaskan severe combined immunodeficiency" EXACT []
synonym: "partial severe combined immunodeficiency" NARROW []
synonym: "RS-SCID" EXACT []
synonym: "SCIDA" EXACT []
synonym: "SCID, Athabascan type" EXACT []
synonym: "SCID, Athabaskan type" EXACT []
synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation" EXACT []
synonym: "SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE" NARROW []
synonym: "SCID due to artemis deficiency" EXACT []
synonym: "SCID due to DCLRE1C deficiency" EXACT []
synonym: "severe combined immunodeficiency, Athabascan type" EXACT []
synonym: "severe combined immunodeficiency, Athabaskan type" EXACT []
synonym: "severe combined immunodeficiency due to artemis deficiency" EXACT []
synonym: "severe combined immunodeficiency due to DCLRE1C deficiency" EXACT []
xref: ICD10CM:D81.1
xref: MESH:C536786
xref: MESH:C537589
xref: NCI:C162694
xref: ORDO:275
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0090013
name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
alt_id: MIM:601457
alt_id: OMIA:001574
alt_id: OMIA:001986
def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1940786 "DO"]
synonym: "ATYPICAL SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY" EXACT []
synonym: "SCID due to complete RAG1-2 deficiency" EXACT []
synonym: "SCID, T Cell-Negative, B Cell-Negative, NK Cell-Positive" EXACT []
synonym: "severe combined immunodeficiency, B cell-negative" EXACT []
synonym: "severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive" EXACT []
synonym: "severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation" RELATED []
synonym: "severe combined immunodeficiency due to complete RAG1-2 deficiency" EXACT []
synonym: "severe immunodeficiency, T-cell negative, B-cell negative, NK cell-positive, autosomal recessive" EXACT []
xref: MESH:C563311
xref: ORDO:331206
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0090014
name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
alt_id: DOID:0060015
def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15661025 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9068311 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9843216 "DO"]
synonym: "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID" EXACT []
synonym: "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" EXACT []
synonym: "IL-7R" EXACT []
synonym: "interleukin-7 receptor alpha deficiency" EXACT []
xref: ICD10CM:D81.2
xref: MESH:C563822
xref: ORDO:169154
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:0090015
name: Cenani-Lenz syndactyly syndrome
def: "A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18978656 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20381006 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6279340 "DO"]
synonym: "Cenani-Lenz Syndactyly" EXACT []
synonym: "Cenani syndactylism" EXACT []
synonym: "CLSS" EXACT []
synonym: "syndactyly, Cenani-Lenz type" EXACT []
synonym: "Syndactyly type 7" EXACT []
synonym: "syndactyly type VII" EXACT []
xref: GARD:5084
xref: MESH:C538150
xref: MIM:212780
xref: MONDO:0008931
xref: ORDO:3258
is_a: DOID:11193 ! syndactyly
is_a: DOID:1934 ! dysostosis
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0090016
name: chromosome 5q deletion syndrome
alt_id: MIM:153550
def: "A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18202658 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19898489 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25920683 "DO"]
synonym: "5q deletion syndrome" EXACT []
synonym: "5q- syndrome" EXACT []
synonym: "5q- syndrome, refractory macrocytic anemia due to 5q deletion" EXACT []
synonym: "MAR  MEGAKARYOCYTES, UNILOBULAR NUCLEATED" NARROW []
synonym: "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" EXACT []
synonym: "refractory macrocytic anemia due to 5q deletion" NARROW []
xref: GARD:10840
xref: ICD10CM:D46.7
xref: MESH:C535323
xref: ORDO:86841
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:2361 ! macrocytic anemia

[Term]
id: DOID:0090017
name: epidermolysis bullosa simplex with muscular dystrophy
alt_id: MIM:226670
def: "An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2662909 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8696340 "DO"]
synonym: "EBS5B" EXACT []
synonym: "EBSMD" EXACT []
synonym: "epidermolysa bullosa simplex and limb girdle muscular dystrophy" RELATED []
synonym: "epidermolysis bullosa simplex 5B with muscular dystrophy" EXACT []
synonym: "epidermolysis bullosa simplex and limb-girdle muscular dystrophy" EXACT []
synonym: "limb-girdle muscular dystrophy with epidermolysis bullosa simplex" EXACT []
synonym: "MD-EBS" EXACT []
synonym: "MDEBS" EXACT []
xref: MESH:C535955
xref: ORDO:257
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11724 ! limb-girdle muscular dystrophy
is_a: DOID:225 ! syndrome
is_a: DOID:4644 ! epidermolysis bullosa simplex

[Term]
id: DOID:0090018
name: autosomal dominant familial periodic fever
alt_id: MIM:142680
def: "A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10199409 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7156325 "DO", https://www.nomidalliance.org/traps.php "DO"]
synonym: "familial hibernian fever" EXACT []
synonym: "FHF" EXACT []
synonym: "FPF" EXACT []
synonym: "hibernian fever" EXACT []
synonym: "TNF receptor 1-associated periodic syndrome" EXACT []
synonym: "TNF receptor-associated periodic fever syndrome (TRAPS)" EXACT []
synonym: "TNF receptor-associated periodic syndrome" EXACT []
synonym: "TNF receptor-associated periodic syndrome (TRAPS)" EXACT []
synonym: "TRAPS" EXACT []
synonym: "tumor necrosis factor receptor 1 associated periodic syndrome" EXACT []
synonym: "tumor necrosis factor receptor-associated periodic syndrome" EXACT []
xref: GARD:8457
xref: ICD10CM:E85.0
xref: MESH:C536657
xref: ORDO:32960
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9000972 ! Fever
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases

[Term]
id: DOID:0090019
name: sitosterolemia
def: "An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11099417 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11138003 "DO"]
synonym: "phytosterolemia" EXACT []
synonym: "plant sterol storage disease" EXACT []
synonym: "pseudohomozygous familial hypercholesterolemia" EXACT []
synonym: "STSL" EXACT []
xref: GARD:7653
xref: MESH:C537345
xref: MIM:PS210250
xref: NCI:C125694
xref: ORDO:2882
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9000808 ! Hypercholesterolemia

[Term]
id: DOID:0090020
name: split hand-foot malformation
alt_id: MESH:C574275
def: "A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12668597 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7802032 "DO"]
synonym: "ECD" RELATED []
synonym: "ectrodactyly" RELATED []
synonym: "lobster-claw deformity" EXACT []
synonym: "split hand/foot malformation" EXACT []
synonym: "split-hand deformity" EXACT []
synonym: "split hand foot deformity" EXACT []
xref: GARD:6319
xref: MESH:C535777
xref: MIM:PS183600
xref: ORDO:2440
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:0090021
name: split hand-foot malformation 1
def: "A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24496061 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7616545 "DO"]
synonym: "SHFD1" EXACT []
synonym: "SHFM1" EXACT []
synonym: "SHSF1" EXACT []
synonym: "split-hand/foot malformation 1 with or without deafness" EXACT []
synonym: "split hand foot deformity 1" EXACT []
xref: MIM:183600
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090020 ! split hand-foot malformation
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0090022
name: split hand-foot malformation 5
alt_id: MIM:606708
def: "A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10364522 "DO"]
synonym: "SHFM5" EXACT []
xref: ICD10CM:Q71.6
xref: ICD10CM:Q71.60
xref: MESH:C564674
xref: NCI:C75000
is_a: DOID:0090020 ! split hand-foot malformation

[Term]
id: DOID:0090023
name: split hand-foot malformation 4
alt_id: MIM:605289
def: "A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10839977 "DO"]
synonym: "SHFM4" EXACT []
xref: MESH:C565344
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090020 ! split hand-foot malformation

[Term]
id: DOID:0090024
name: split hand-foot malformation 1 with sensorineural hearing loss
alt_id: MIM:220600
alt_id: RDO:0014230
def: "A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22121204 "DO"]
synonym: "congenital deafness and split hands and feet" EXACT []
synonym: "congenital deafness with split hands and feet" EXACT []
synonym: "SHFM1D" EXACT []
synonym: "SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE" EXACT []
xref: MESH:C565647
xref: ORDO:71271
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0090020 ! split hand-foot malformation
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0090025
name: split hand-foot malformation 3
alt_id: MIM:246560
def: "A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14699611 "DO"]
synonym: "chromosome 10q24 duplication syndrome" EXACT []
synonym: "distal limb deficiencies with micrognathia" EXACT []
synonym: "SHFM3" EXACT []
synonym: "SHSF3" EXACT []
xref: MESH:C565437
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:0090020 ! split hand-foot malformation
is_a: DOID:9005616 ! Micrognathism

[Term]
id: DOID:0090026
name: split hand-foot malformation 6
alt_id: MIM:225300
def: "A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18515319 "DO"]
synonym: "Ectrodactyly, Autosomal Recessive" EXACT []
synonym: "SHFM6" EXACT []
xref: MESH:C567616
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0090020 ! split hand-foot malformation

[Term]
id: DOID:0090027
name: split hand-foot malformation 2
alt_id: MIM:313350
def: "A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15617554 "DO"]
synonym: "SHFD2" EXACT []
synonym: "SHFM2" EXACT []
synonym: "SHSF2" EXACT []
synonym: "split hand foot anomaly, X-linked" EXACT []
synonym: "split-hand-foot deformity 2" EXACT []
synonym: "split hand-foot malformation X-linked" EXACT []
synonym: "split-hand-split-foot anomaly, X-linked" EXACT []
xref: MESH:C564056
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0090020 ! split hand-foot malformation

[Term]
id: DOID:0090028
name: familial isolated deficiency of vitamin E
alt_id: MIM:277460
def: "A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2298915 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7719340 "DO"]
synonym: "ataxia and retinitis pigmentosa with isolated vitamin E deficiency" EXACT []
synonym: "ataxia with isolated vitamin E deficiency" EXACT []
synonym: "ataxia with vitamin E deficiency" EXACT []
synonym: "AVED" EXACT []
synonym: "familial isolated vitamin E deficiency" EXACT []
synonym: "Friedreich ataxia phenotype with selective vitamin E deficiency" EXACT []
synonym: "Friedreich-like ataxia" EXACT []
synonym: "Friedreich-like ataxia with isolated vitamin E deficiency" EXACT []
synonym: "Friedreich-like ataxia with selective vitamin E deficiency" EXACT []
synonym: "VED" EXACT []
xref: MESH:C535393
xref: NCI:C155996
xref: ORDO:96
is_a: DOID:0050718 ! vitamin metabolic disorder
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9006575 ! Vitamin E Deficiency

[Term]
id: DOID:0090029
name: CINCA syndrome
def: "An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12032915 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7252669 "DO", https://www.nomidalliance.org/nomid.php "DO"]
synonym: "CAPS3" EXACT []
synonym: "chronic infantile neurological cutaneous and articular syndrome" EXACT []
synonym: "chronic infantile neurological cutaneous articular syndrome" EXACT []
synonym: "chronic infantile neurologic cutaneous and articular syndrome" EXACT []
synonym: "chronic neurologic cutaneous and articular syndrome" EXACT []
synonym: "CINCA" EXACT []
synonym: "cryopyrin-associated periodic syndrome 3" EXACT []
synonym: "infantile-onset multisystem inflammatory disease" EXACT []
synonym: "IOMID" EXACT []
synonym: "IOMID syndrome" EXACT []
synonym: "neonatal-onset multisystem inflammatory disease" EXACT []
synonym: "NOMID" EXACT []
synonym: "NOMID syndrome" EXACT []
synonym: "Prieur-Griscelli syndrome" EXACT []
xref: MIM:607115
xref: NCI:C116380
xref: ORDO:1451
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9008464 ! Cryopyrin-Associated Periodic Syndromes
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0090030
name: corticosteroid-binding globulin deficiency
alt_id: MIM:611489
def: "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10634411 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7061486 "DO"]
synonym: "CBG deficiency" EXACT []
synonym: "elevated corticosteroid-binding globulin" RELATED []
synonym: "Transcortin Deficiency" EXACT []
xref: GARD:13101
xref: ICD10CM:E27.8
xref: MESH:C565152
xref: ORDO:199247
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:9006617 ! Fatigue
is_a: DOID:9553 ! adrenal gland disease

[Term]
id: DOID:0090031
name: D-bifunctional protein deficiency
def: "A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. (DO)" [https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency "DO", https://www.omim.org/entry/261515 "DO"]
synonym: "17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY" EXACT []
synonym: "DBP deficiency" EXACT []
synonym: "HSD17B4-RELATED CONDITION" BROAD []
synonym: "PBFE DEFICIENCY" EXACT []
synonym: "peroxisomal bifunctional enzyme deficiency" EXACT []
xref: GARD:4539
xref: MIM:261515
xref: NCI:C119676
xref: ORDO:300
is_a: DOID:0112248 ! 17-beta hydroxysteroid dehydrogenase 3 deficiency
is_a: DOID:906 ! peroxisomal disease

[Term]
id: DOID:0090032
name: Silverman-Handmaker type dyssegmental dysplasia
alt_id: MIM:224410
def: "An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. (DO)" [https://ghr.nlm.nih.gov/gene/HSPG2#conditions "DO", https://www.omim.org/entry/224410 "DO"]
synonym: "anisospondylic camptomicromelic dwarfism" EXACT []
synonym: "Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type" EXACT []
synonym: "DDSH" EXACT []
synonym: "Dyssegmental dwarfism" EXACT []
synonym: "Dyssegmental Dwarfism, Silverman-Handmaker Type" EXACT []
synonym: "dyssegmental dysplasia" EXACT []
synonym: "HSPG2-RELATED CONDITION" BROAD []
synonym: "HSPG2-RELATED DISORDER" BROAD []
synonym: "QUALITATIVE OR QUANTITATIVE DEFECTS OF PERLECAN" RELATED []
synonym: "QUALITATIVE OR QUANTITATIVE DEFECTS OF PLECTIN" RELATED []
xref: ICD10CM:Q77.7
xref: MESH:C537998
xref: ORDO:1865
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0090033
name: myoclonic dystonia
def: "A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life. (DO)" [https://en.wikipedia.org/wiki/Myoclonic_dystonia "DO", https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO"]
synonym: "alcohol-responsive dystonia" EXACT []
synonym: "Hereditary essential myoclonus" EXACT []
synonym: "Myoclonus-Dystonia" EXACT []
synonym: "myoclonus-dystonia syndrome" EXACT []
xref: MESH:C536096
is_a: DOID:543 ! dystonia

[Term]
id: DOID:0090034
name: myoclonic dystonia 11
def: "A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. (DO)" [https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO", https://www.omim.org/entry/159900 "DO"]
synonym: "dystonia 11" EXACT []
synonym: "DYT11" EXACT []
xref: MIM:159900
xref: NCI:C201596
xref: ORDO:36899
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090033 ! myoclonic dystonia
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0090035
name: myoclonic dystonia 15
alt_id: MIM:607488
def: "A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11. (DO)" [https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO", https://www.omim.org/entry/607488 "DO"]
synonym: "DYT15" EXACT []
xref: MESH:C538002
xref: ORDO:210566
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090033 ! myoclonic dystonia
is_a: DOID:9008057 ! Dystonia Musculorum Deformans

[Term]
id: DOID:0090036
name: myoclonic dystonia 26
def: "A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. (DO)" [https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO", https://www.omim.org/entry/616398 "DO"]
synonym: "DYT26" EXACT []
xref: MIM:616398
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090033 ! myoclonic dystonia
created_by: rgd
creation_date: 2017-03-03T00:00:00Z

[Term]
id: DOID:0090037
name: torsion dystonia 13
alt_id: MIM:607671
def: "A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11261511 "DO", https://www.omim.org/entry/607671 "DO"]
synonym: "DYT13" EXACT []
synonym: "torsion dystonia 13, autosomal dominant" EXACT []
xref: MESH:C564354
xref: ORDO:98807
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9000314 ! Torsion Abnormality
is_a: DOID:9008057 ! Dystonia Musculorum Deformans

[Term]
id: DOID:0090038
name: torsion dystonia 2
alt_id: MIM:224500
def: "A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25799108 "DO", https://www.omim.org/entry/224500 "DO"]
synonym: "dystonia musculorum deformans 2" EXACT []
synonym: "dystonia musculorum deformans type 2" EXACT []
synonym: "DYT2" EXACT []
synonym: "torsion dystonia 2, autosomal recessive" EXACT []
synonym: "torsion dystonia 2, autosomal recessive type" EXACT []
xref: MESH:C538006
xref: NCI:C123415
xref: ORDO:99657
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9008057 ! Dystonia Musculorum Deformans

[Term]
id: DOID:0090039
name: torsion dystonia 6
alt_id: MIM:602629
def: "A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. (DO)" [https://ghr.nlm.nih.gov/condition/dystonia-6 "DO", https://www.omim.org/entry/602629 "DO"]
synonym: "DYT6" EXACT []
synonym: "Torsion dystonia adult onset mixed type" EXACT []
xref: MESH:C538003
xref: NCI:C156361
xref: ORDO:98806
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9008057 ! Dystonia Musculorum Deformans

[Term]
id: DOID:0090040
name: torsion dystonia 7
alt_id: MIM:602124
alt_id: RDO:0002703
alt_id: RDO:0014889
def: "A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23596437 "DO", https://www.omim.org/entry/602124 "DO"]
synonym: "DYT7" EXACT []
synonym: "Primary adult-onset torsion dystonia" EXACT []
synonym: "primary cervical dystonia" EXACT []
synonym: "Torsion dystonia, focal adult-onset" EXACT []
synonym: "TORSION DYSTONIA, FOCAL ADULT-ONSET  CERVICAL DYSTONIA, PRIMARY" NARROW []
xref: MESH:C566572
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050836 ! focal dystonia

[Term]
id: DOID:0090041
name: torsion dystonia 4
def: "A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29127012 "DO", https://www.omim.org/entry/128101 "DO"]
synonym: "dystonia musculorum deformans 4" EXACT []
synonym: "DYT4" EXACT []
synonym: "hereditary whispering dysphonia" EXACT []
synonym: "torsion dystonia 4, autosomal dominant" EXACT []
synonym: "torsion dystonia 4, autosomal dominant type" EXACT []
xref: MESH:C536698
xref: MESH:C538004
xref: MIM:128101
xref: MONDO:0007493
xref: ORDO:98805
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9006046 ! Voice Disorders
is_a: DOID:9008057 ! Dystonia Musculorum Deformans

[Term]
id: DOID:0090042
name: torsion dystonia 17
alt_id: MIM:612406
def: "A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23596437 "DO", https://www.omim.org/entry/612406 "DO"]
synonym: "DYT17" EXACT []
synonym: "torsion dystonia 17, autosomal recessive" EXACT []
xref: MESH:C567319
xref: ORDO:370103
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:543 ! dystonia

[Term]
id: DOID:0090043
name: DOPA-responsive dystonia
alt_id: DOID:0060963
alt_id: MIM:128230
def: "A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. (DO)" [https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia/ "DO", https://pubmed.ncbi.nlm.nih.gov/17111153/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1508/ "DO"]
synonym: "autosomal dominant Segawa syndrome" EXACT []
synonym: "DOPA-responsive dystonia, autosomal dominant" EXACT []
synonym: "DOPA-responsive dystonia with or without hyperphenylalaninemia" EXACT []
synonym: "DRD" EXACT []
synonym: "dystonia 5" EXACT []
synonym: "dystonia 5, Dopa-responsive type" EXACT []
synonym: "dystonia, DOPA-responsive" EXACT []
synonym: "dystonia-parkinsonism with diurnal fluctuation" EXACT []
synonym: "DYT5" EXACT []
synonym: "GTPCH1-deficient dopa-responsive dystonia" EXACT []
synonym: "GTPCH1-deficient DRD" EXACT []
synonym: "hereditary progressive dystonia with marked diurnal fluctuation" EXACT []
synonym: "HPD with marked diurnal fluctuation" EXACT []
synonym: "progressive dystonia with diurnal variation" EXACT []
synonym: "Segawa syndrome, autosomal dominant" EXACT []
xref: ICD10:G24.1
xref: MESH:C538007
xref: MONDO:0016812
xref: NCI:C116719
xref: ORDO:98808
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:543 ! dystonia

[Term]
id: DOID:0090044
name: dystonia 9
def: "A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1430/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/30616884 "DO", https://www.omim.org/entry/601042 "DO"]
synonym: "CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA" EXACT []
synonym: "DYT9" EXACT []
synonym: "episodic choreoathetosis/spasticity" EXACT []
synonym: "kinesigenic choreoathetosis with episodic ataxia and spasticity" EXACT []
synonym: "paroxysmal choreoathetosis with episodic ataxia" EXACT []
synonym: "paroxysmal choreoathetosis with spasticity" EXACT []
xref: MESH:C563401
xref: MIM:601042
xref: MONDO:0010983
xref: ORDO:53583
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070560 ! glucose transporter type 1 deficiency syndrome
is_a: DOID:543 ! dystonia
is_a: DOID:9007428 ! Muscle Spasticity

[Term]
id: DOID:0090045
name: glucose transporter type 1 deficiency syndrome 2
def: "A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26336901 "DO", https://www.omim.org/entry/612126 "DO"]
synonym: "childhood-onset GLUT1 deficiency syndrome 2" EXACT []
synonym: "dystonia 18" EXACT []
synonym: "DYT18" EXACT []
synonym: "GLUT1 deficiency syndrome 2" EXACT []
synonym: "GLUT1DS2" EXACT []
synonym: "paroxysmal exercise-induced dyskinesia" BROAD []
synonym: "PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA" EXACT []
synonym: "paroxysmal exercise-induced dystonia" EXACT []
synonym: "paroxysmal exertion-induced dyskinesia" EXACT []
synonym: "PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA" EXACT []
synonym: "PED" BROAD []
synonym: "PED with or without epilepsy and/or hemolytic anemia" EXACT []
xref: GARD:10541
xref: MESH:C564288
xref: MIM:612126
xref: MONDO:0012805
xref: ORDO:98811
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0070560 ! glucose transporter type 1 deficiency syndrome
is_a: DOID:543 ! dystonia

[Term]
id: DOID:0090046
name: dystonia 21
def: "A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21301909 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29770609 "DO", https://www.omim.org/entry/614588 "DO"]
synonym: "DYT21" EXACT []
xref: MIM:614588
xref: ORDO:306734
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:543 ! dystonia
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0090047
name: paroxysmal nonkinesigenic dyskinesia 2
alt_id: MIM:611147
alt_id: RDO:0015191
def: "A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31. (DO)" [https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia "DO", https://www.ncbi.nlm.nih.gov/pubmed/20425035 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22454269 "DO"]
synonym: "dystonia 20" EXACT []
synonym: "DYT20" EXACT []
synonym: "PNKD2" EXACT []
xref: MESH:C567001
xref: ORDO:98810
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12859 ! choreatic disease
is_a: DOID:543 ! dystonia

[Term]
id: DOID:0090048
name: dystonia 16
def: "A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28283962 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29279192 "DO", https://www.omim.org/entry/612067 "DO"]
synonym: "DYT16" EXACT []
synonym: "MIM:612067" EXACT []
xref: GARD:10539
xref: ICD10CM:G24.1
xref: MESH:C567430
xref: NCI:C168729
xref: ORDO:210571
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050837 ! multifocal dystonia

[Term]
id: DOID:0090049
name: paroxysmal nonkinesigenic dyskinesia 1
alt_id: MIM:118800
def: "A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. (DO)" [https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia "DO", https://www.ncbi.nlm.nih.gov/pubmed/28090678 "DO"]
synonym: "Dystonia 8" EXACT []
synonym: "DYT8" EXACT []
synonym: "familial paroxysmal choreoathetosis" EXACT []
synonym: "Familial Paroxysmal Nonkinesigenic Dyskinesia" EXACT []
synonym: "FPD1" EXACT []
synonym: "Mount-Reback syndrome" EXACT []
synonym: "nonkinesigenic choreoathetosis" EXACT []
synonym: "paroxysmal dystonic choreoathetosis" EXACT []
synonym: "paroxysmal non-kinesigenic dyskinesia" EXACT []
synonym: "paroxysmal nonkinesigenic dyskinesia" EXACT []
synonym: "PDC" EXACT []
synonym: "PNKD1" EXACT []
xref: MESH:C537181
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12859 ! choreatic disease
is_a: DOID:543 ! dystonia

[Term]
id: DOID:0090050
name: dystonia 27
def: "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26004199 "DO", https://www.omim.org/entry/616411 "DO"]
synonym: "AUTOSOMAL RECESSIVE DISTAL HEREDITARY MOTOR NEUROPATHY" EXACT []
synonym: "DYT27" EXACT []
xref: MIM:616411
xref: ORDO:464440
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050838 ! segmental dystonia
is_a: DOID:9007913 ! Collagen VI-related Myopathy
created_by: rgd
creation_date: 2017-01-16T00:00:00Z

[Term]
id: DOID:0090051
name: dystonia 23
def: "A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25296916 "DO", https://www.omim.org/entry/614860 "DO"]
synonym: "DYT23" EXACT []
xref: ICD10CM:G24.8
xref: MIM:614860
xref: ORDO:420492
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050836 ! focal dystonia
created_by: rgd
creation_date: 2015-06-17T00:00:00Z

[Term]
id: DOID:0090052
name: dystonia 24
def: "A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30455893 "DO", https://www.omim.org/entry/615034 "DO"]
synonym: "DYT24" EXACT []
xref: EFO:0009040
xref: MIM:615034
xref: ORDO:420485
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050836 ! focal dystonia

[Term]
id: DOID:0090053
name: episodic kinesigenic dyskinesia 1
alt_id: MIM:128200
def: "A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. (DO)" [https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia "DO", https://www.omim.org/entry/128200 "DO"]
synonym: "dystonia 10" EXACT []
synonym: "DYT10" EXACT []
synonym: "EKD1" EXACT []
synonym: "Familial Paroxysmal Dystonia" EXACT []
synonym: "Familial Paroxysmal Kinesigenic Dyskinesia" EXACT []
synonym: "Paroxysmal kinesigenic choreoathetosis" EXACT []
synonym: "paroxysmal kinesigenic dyskinesia" EXACT []
synonym: "PKC" EXACT []
synonym: "PKD" EXACT []
xref: GARD:8721
xref: MESH:C537180
xref: NCI:C178413
xref: ORDO:98809
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9009225 ! Episodic Kinesigenic Dyskinesia

[Term]
id: DOID:0090054
name: episodic kinesigenic dyskinesia 2
alt_id: MIM:611031
def: "A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1. (DO)" [https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia "DO"]
synonym: "dystonia 19" EXACT []
synonym: "DYT19" EXACT []
synonym: "EKD2" EXACT []
xref: MESH:C567026
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9009225 ! Episodic Kinesigenic Dyskinesia

[Term]
id: DOID:0090055
name: dystonia 25
def: "A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28283962 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30660597 "DO", https://www.omim.org/entry/615073 "DO"]
synonym: "DYT25" EXACT []
xref: MIM:615073
xref: ORDO:329466
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050837 ! multifocal dystonia

[Term]
id: DOID:0090056
name: dystonia 12
alt_id: MIM:128235
def: "A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. (DO)" [https://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism "DO", https://www.omim.org/entry/128235 "DO"]
synonym: "DYT12" EXACT []
synonym: "rapid-onset dystonia-parkinsonism" EXACT []
synonym: "RDP" EXACT []
synonym: "TASK-SPECIFIC MOVEMENT DISORDER" EXACT []
xref: MESH:C538001
xref: MONDO:0007496
xref: NCI:C157577
xref: ORDO:71517
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:543 ! dystonia

[Term]
id: DOID:0090057
name: X-linked dystonia-parkinsonism
alt_id: MIM:314250
def: "A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism "DO", https://www.omim.org/entry/314250 "DO"]
synonym: "DYT3" EXACT []
synonym: "Lubag" EXACT []
synonym: "Lubag Syndrome" EXACT []
synonym: "TAF1-RELATED CONDITION" BROAD []
synonym: "Torsion Dystonia-Parkinsonism, Filipino Type" EXACT []
synonym: "XDP" EXACT []
synonym: "X-Linked Dystonia-Parkinsonism Syndrome" EXACT []
synonym: "X-linked torsion dystonia 3" EXACT []
synonym: "X-linked torsion dystonia-parkinsonism syndrome" EXACT []
xref: GARD:10533
xref: MESH:C564048
xref: NCI:C126330
xref: ORDO:53351
is_a: DOID:0050836 ! focal dystonia
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0090058
name: torsion dystonia with onset in infancy
alt_id: MIM:602554
alt_id: RDO:0002704
def: "A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8916165 "DO", https://www.omim.org/entry/602554 "DO"]
synonym: "autosomal dominant torsion dystonia with onset in infancy" EXACT []
xref: MESH:C536969
xref: ORDO:256
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050835 ! generalized dystonia
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:0090059
name: enhanced S-cone syndrome
alt_id: MIM:268100
def: "A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30900587 "DO", https://www.omim.org/entry/268100 "DO"]
synonym: "ESCS" EXACT []
synonym: "FAVRE HYALOIDEORETINAL DEGENERATION" NARROW []
synonym: "GOLDMANN-FAVRE SYNDROME" NARROW []
synonym: "NR2E3-RELATED CONDITION" BROAD []
synonym: "NR2E3-RELATED DISORDER" BROAD []
synonym: "NR2E3-RELATED DISORDERS" BROAD []
synonym: "RETINOSCHISIS WITH EARLY HEMERALOPIA" NARROW []
xref: MESH:C564835
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:5679 ! retinal disease
is_a: DOID:8466 ! retinal degeneration
is_a: DOID:9000343 ! Vision Disorders
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0090060
name: Wolcott-Rallison syndrome
alt_id: MIM:226980
def: "A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30906465 "DO", https://www.omim.org/entry/226980 "DO"]
synonym: "IDDM-MED syndrome" EXACT []
synonym: "multiple epiphyseal dysplasia with early-onset diabetes mellitus" EXACT []
synonym: "Wolcott-Rallison dysplasia" EXACT []
xref: ICD10CM:E13
xref: MESH:C536739
xref: ORDO:1667
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0090061
name: familial cold autoinflammatory syndrome
def: "A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. (DO)" [https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome "DO", https://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome/ "DO", https://www.nomidalliance.org/fcas.php "DO"]
synonym: "FCAS" EXACT []
xref: MIM:PS120100
is_a: DOID:1555 ! urticaria
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9008464 ! Cryopyrin-Associated Periodic Syndromes

[Term]
id: DOID:0090062
name: familial cold autoinflammatory syndrome 1
def: "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11687797 "DO"]
synonym: "CAPS1" EXACT []
synonym: "CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1" EXACT []
synonym: "FCAS1" EXACT []
xref: MIM:120100
xref: ORDO:47045
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090061 ! familial cold autoinflammatory syndrome
is_a: DOID:1555 ! urticaria

[Term]
id: DOID:0090063
name: familial cold autoinflammatory syndrome 2
alt_id: MIM:611762
def: "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18230725 "DO"]
synonym: "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO" RELATED []
synonym: "FCAS2" EXACT []
synonym: "NLRP12-associated hereditary periodic fever syndrome" EXACT []
synonym: "NLRP12-related condition" EXACT []
xref: MESH:C567090
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090061 ! familial cold autoinflammatory syndrome

[Term]
id: DOID:0090064
name: familial cold autoinflammatory syndrome 3
def: "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22236196 "DO"]
synonym: "ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED" EXACT []
synonym: "FACU" EXACT []
synonym: "familial atypical cold urticaria" EXACT []
synonym: "FCAS3" EXACT []
synonym: "PLAID" EXACT []
xref: MIM:614468
xref: ORDO:300359
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090061 ! familial cold autoinflammatory syndrome
is_a: DOID:1555 ! urticaria

[Term]
id: DOID:0090065
name: familial cold autoinflammatory syndrome 4
def: "A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25385754 "DO"]
synonym: "FCAS4" EXACT []
xref: ICD10CM:L50.2
xref: MIM:616115
xref: ORDO:47045
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090061 ! familial cold autoinflammatory syndrome
created_by: rgd
creation_date: 2017-02-16T00:00:00Z

[Term]
id: DOID:0090066
name: Fanconi-like syndrome
alt_id: MIM:227850
alt_id: RDO:0002566
def: "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4692131 "DO"]
xref: MESH:C536855
is_a: DOID:12450 ! pancytopenia
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9002605 ! Delayed Hypersensitivity
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:0090067
name: Fuhrmann syndrome
alt_id: MIM:228930
def: "A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28917830 "DO", https://www.omim.org/entry/228930 "DO"]
synonym: "FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY" EXACT []
xref: GARD:2410
xref: ICD10CM:Q74.8
xref: MESH:C538189
xref: ORDO:2854
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0090068
name: giant axonal neuropathy 1
alt_id: RDO:9002729
def: "An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. (DO)" [https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/30709364 "DO", https://www.omim.org/entry/256850 "DO"]
synonym: "GAN1" EXACT []
synonym: "giant axonal neuropathy 1 (GAN1)" EXACT []
synonym: "giant axonal neuropathy 1, autosomal recessive" EXACT []
synonym: "giant axonal neuropathy, autosomal recessive" EXACT []
xref: MIM:256850
xref: ORDO:643
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9000462 ! Giant Axonal Neuropathy
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0090069
name: giant axonal neuropathy 2
alt_id: MIM:610100
alt_id: RDO:0014795
def: "An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23. (DO)" [https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/24500646 "DO", https://www.omim.org/entry/610100 "DO"]
synonym: "GAN2" EXACT []
synonym: "giant axonal neuropathy 2, autosomal dominant" EXACT []
synonym: "giant axonal neuropathy, autosomal dominant" EXACT []
xref: MESH:C566444
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9000462 ! Giant Axonal Neuropathy

[Term]
id: DOID:0090070
name: hypogonadotropic hypogonadism
alt_id: DOID:7455
def: "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17761590 "DO"]
synonym: "congenital idiopathic hypogonadotropic hypogonadism" EXACT []
synonym: "hypogonadotropic hypogonadism with or without anosmia" EXACT []
synonym: "hypogonadotropism" EXACT []
synonym: "isolated congenital gonadotropin deficiency" EXACT []
xref: MIM:PS147950
xref: ORDO:432
is_a: DOID:1924 ! hypogonadism

[Term]
id: DOID:0090071
name: hypogonadotropic hypogonadism 11 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19079066 "DO"]
synonym: "HH11" EXACT []
xref: MIM:614840
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090072
name: hypogonadotropic hypogonadism 12 with or without anosmia
alt_id: MIM:614841
def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19535795 "DO"]
synonym: "familial hypogonadotrophic eunuchoidism" EXACT []
synonym: "familial idiopathic gonadotropin deficiency" EXACT []
synonym: "familial idiopathic gonadotrpin deficiency" EXACT []
synonym: "FIGD" EXACT []
synonym: "HH12" EXACT []
synonym: "ISOLATED GNRH DEFICIENCY" EXACT []
xref: MESH:C535764
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:5003 ! eunuchism

[Term]
id: DOID:0090073
name: hypogonadotropic hypogonadism 13 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22335740 "DO"]
synonym: "HH13" EXACT []
synonym: "hypogonadotropic hypogonadism 13 without anosmia" NARROW []
xref: MIM:614842
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090074
name: hypogonadotropic hypogonadism 8 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14573733 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"]
synonym: "HH8" EXACT []
synonym: "hypogonadotropic hypogonadism 8 without anosmia" NARROW []
xref: MIM:614837
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090075
name: hypogonadotropic hypogonadism 15 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21700882 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"]
synonym: "HH15" EXACT []
synonym: "hypogonadotropic hypogonadism 15 with anosmia" NARROW []
synonym: "HYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO" RELATED []
synonym: "HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO" RELATED []
xref: ICD10CM:E23.0
xref: MIM:614880
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090076
name: hypogonadotropic hypogonadism 18 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"]
synonym: "HH18" EXACT []
synonym: "hypogonadotropic hypogonadism 18 with anosmia" NARROW []
xref: MIM:615267
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090077
name: hypogonadotropic hypogonadism 4 with or without anosmia
alt_id: MIM:610628
def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17054399 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18559922 "DO"]
synonym: "HH4" EXACT []
synonym: "Kallmann syndrome 4" EXACT []
synonym: "PROK2-RELATED CONDITION" EXACT []
xref: MESH:C565696
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3614 ! Kallmann syndrome
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0090078
name: hypogonadotropic hypogonadism 7 with or without anosmia
alt_id: MIM:146110
def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17235395 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9371856 "DO"]
synonym: "HH7" EXACT []
synonym: "idiopathic hypogonadotropic hypogonadism" EXACT []
synonym: "IHH" EXACT []
synonym: "ISOLATED CONGENITAL HYPOGONADOTROPIC HYPOGONADISM" EXACT []
synonym: "isolated hypogonadotropic hypogonadism" EXACT []
xref: MESH:C562785
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism

[Term]
id: DOID:0090079
name: hypogonadotropic hypogonadism 17 with or without anosmia
alt_id: RDO:9000881
def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"]
synonym: "HH17" EXACT []
xref: ICD10CM:E23.0
xref: MIM:615266
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090080
name: hypogonadotropic hypogonadism 16 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22416012 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22927827 "DO"]
synonym: "HH16" EXACT []
synonym: "SEMA3A-RELATED CONDITION" EXACT []
xref: MIM:614897
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090081
name: hypogonadotropic hypogonadism 22 with or without anosmia
alt_id: RDO:9001195
def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25192046 "DO"]
synonym: "HH22" EXACT []
synonym: "HYPOGONADOTROPIC HYPOGONADISM 22 WITH ANOSMIA" NARROW []
xref: MIM:616030
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090082
name: hypogonadotropic hypogonadism 20 with or without anosmia
alt_id: RDO:9000885
def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"]
synonym: "HH20" EXACT []
synonym: "hypogonadotropic hypogonadism 20 without anosmia" NARROW []
xref: MIM:615270
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090083
name: hypogonadotropic hypogonadism 2 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12627230 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20696889 "DO"]
synonym: "HH2" EXACT []
synonym: "hypogonadotropic hypogonadism 2 with anosmia" NARROW []
synonym: "hypogonadotropic hypogonadism 2 with anosmia, susceptibility to" RELATED []
synonym: "KAL2" EXACT []
synonym: "Kallmann syndrome 2" EXACT []
xref: MIM:147950
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:3614 ! Kallmann syndrome
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0090084
name: hypogonadotropic hypogonadism 5 with or without anosmia
def: "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18834967 "DO"]
synonym: "CHD7-RELATED CONDITION" BROAD []
synonym: "HH5" EXACT []
xref: MIM:612370
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0090085
name: hypogonadotropic hypogonadism 9 with or without anosmia
def: "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15362570 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17235395 "DO"]
synonym: "HH9" EXACT []
synonym: "NSMF-RELATED CONDITION" EXACT []
xref: MIM:614838
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090086
name: hypogonadotropic hypogonadism 6 with or without anosmia
def: "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18596921 "DO"]
synonym: "HH6" EXACT []
xref: MIM:612702
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0090087
name: hypogonadotropic hypogonadism 14 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20887964 "DO"]
synonym: "HH14" EXACT []
synonym: "hypogonadotropic hypogonadism 14 with anosmia" NARROW []
xref: MIM:614858
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090088
name: hypogonadotropic hypogonadism 24 without anosmia
alt_id: MIM:229070
def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8220432 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9271483 "DO"]
synonym: "HH24" EXACT []
synonym: "hypogonadotropic hypogonadism 24 with or without anosmia" EXACT []
synonym: "isolated follicle-stimulating hormone deficiency" EXACT []
synonym: "isolated FSH deficiency" EXACT []
xref: ICD10CM:E23.6
xref: MESH:C537070
xref: ORDO:52901
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:14228 ! oligospermia

[Term]
id: DOID:0090089
name: hypogonadotropic hypogonadism 10 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19079066 "DO"]
synonym: "HH10" EXACT []
synonym: "hypogonadotropic hypogonadism 10 without anosmia" NARROW []
xref: MIM:614839
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090090
name: hypogonadotropic hypogonadism 19 with or without anosmia
alt_id: RDO:9000884
def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"]
synonym: "HH19" EXACT []
xref: MIM:615269
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090091
name: hypogonadotropic hypogonadism 23 with or without anosmia
alt_id: MIM:228300
def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1727547 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22723313 "DO"]
synonym: "46,XY disorder of sex development due to LHB deficiency" EXACT []
synonym: "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" EXACT []
synonym: "46,XY DSD due to LHB deficiency" EXACT []
synonym: "46,XY DSD due to luteinizing hormone subunit beta deficiency" EXACT []
synonym: "fertile eunuch syndrome" EXACT []
synonym: "HH23" EXACT []
synonym: "hypogonadotropic hypogonadism 23 without anosmia" EXACT []
synonym: "leydig cell hypoplasia due to LHB deficiency" EXACT []
synonym: "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" EXACT []
synonym: "Pasqualini syndrome" EXACT []
xref: ICD10CM:Q56.1
xref: MESH:C537919
xref: ORDO:325448
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:5003 ! eunuchism

[Term]
id: DOID:0090092
name: hypogonadotropic hypogonadism 3 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17054399 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18559922 "DO"]
synonym: "HH3" EXACT []
synonym: "hypogonadotropic hypogonadism 3 without anosmia" NARROW []
synonym: "Kallmann syndrome 3" NARROW []
synonym: "Kallmann syndrome type 3, recessive" NARROW []
xref: MIM:244200
xref: MONDO:0009482
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3614 ! Kallmann syndrome
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0090093
name: hypogonadotropic hypogonadism 21 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"]
synonym: "HH21" EXACT []
xref: MIM:615271
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:0090094
name: hypogonadotropic hypogonadism 1 with or without anosmia
def: "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1594017 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16882753 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17054399 "DO"]
synonym: "ANOS1-RELATED CONDITION" EXACT []
synonym: "HH1" EXACT []
synonym: "hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)" EXACT []
synonym: "KAL1" EXACT []
synonym: "Kallmann syndrome 1" EXACT []
synonym: "Kallmann syndrome type 1, X-linked" EXACT []
xref: MIM:308700
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:3614 ! Kallmann syndrome
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0090100
name: ocular albinism with sensorineural deafness
alt_id: MIM:300650
def: "An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. (DO)" [https://ghr.nlm.nih.gov/condition/ocular-albinism "DO", https://www.ncbi.nlm.nih.gov/pubmed/28356565 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29531335 "DO", https://www.omim.org/entry/103470 "DO"]
synonym: "autosomal recessive Waardenburg syndrome type 2, with ocular albinism" EXACT []
synonym: "autosomal recessive Waardenburg syndrome type II, with ocular albinism" EXACT []
synonym: "deafness and ocular albinism" EXACT []
synonym: "digenic Waardenburg syndrome/albinism" EXACT []
synonym: "digenic Waardenburg syndrome/ocular albinism" EXACT []
synonym: "digenic Waardenburg syndrome type 2A with ocular albinism" EXACT []
synonym: "OASD" EXACT []
synonym: "ocular albinism, late-onset sensorineural deafness" EXACT []
synonym: "ocular albinism with late-onset sensorineural deafness" EXACT []
synonym: "WS2-OA" EXACT []
xref: ICD10CM:E70.3
xref: MESH:C537043
xref: ORDO:352740
is_a: DOID:0050633 ! ocular albinism 1
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080578 ! digenic disease
is_a: DOID:10003 ! sensorineural hearing loss

[Term]
id: DOID:0090101
name: lethal congenital glycogen storage disease of heart
def: "A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. (DO)" [https://ghr.nlm.nih.gov/gene/PRKAG2#conditions "DO", https://www.omim.org/entry/261740 "DO"]
synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogenosis" EXACT []
synonym: "fatal congenital hypertrophic cardiomyopathy due to GSD" EXACT []
synonym: "fatal congenital nonlysosomal cardiac glycogenosis" EXACT []
synonym: "glycogen storage disease of heart" EXACT []
synonym: "phosphorylase kinase deficiency of heart" EXACT []
xref: ICD10CM:E74.0+
xref: ICD10CM:G73.6*
xref: MESH:C564888
xref: MIM:261740
xref: MONDO:0009867
xref: ORDO:439854
is_a: DOID:0080015 ! physical disorder
is_a: DOID:114 ! heart disease
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:0090102
name: autosomal dominant macrothrombocytopenia TUBB1-related
alt_id: MIM:613112
alt_id: OMIA:001001
def: "A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27291889 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27905099 "DO", https://www.omim.org/entry/613112 "DO"]
synonym: "autosomal dominant isolated macrothrombocytopenia 1" EXACT []
synonym: "MACTHC1" EXACT []
synonym: "TUBB1-RELATED CONDITION" EXACT []
xref: MESH:C567747
xref: ORDO:140957
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9004194 ! Isolated Macrothrombocytopenia

[Term]
id: DOID:0090103
name: Huntington's disease-like 1
alt_id: MIM:603218
def: "A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13. (DO)" [https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome "DO", https://www.omim.org/entry/603218 "DO"]
synonym: "early-onset prion disease with prominent psychiatric features" EXACT []
synonym: "HDL1" EXACT []
synonym: "HLN1" EXACT []
synonym: "Huntington disease-like 1" EXACT []
synonym: "Huntington-Like Neurodegenerative Disorder 1" EXACT []
synonym: "Huntington-Like Neurodegenerative Disorder, Autosomal Dominant" EXACT []
xref: ICD10CM:G10
xref: MESH:C566398
xref: ORDO:157941
is_a: DOID:12858 ! Huntington's disease
is_a: DOID:649 ! prion disease

[Term]
id: DOID:0090104
name: Huntington's disease-like 2
alt_id: MIM:606438
def: "A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. (DO)" [https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome "DO", https://www.omim.org/entry/606438 "DO"]
synonym: "HDL2" EXACT []
synonym: "Huntington Disease-Like 2" EXACT []
xref: MESH:C564708
xref: ORDO:98934
is_a: DOID:12859 ! choreatic disease
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:1307 ! dementia
is_a: DOID:1561 ! cognitive disorder
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:0090105
name: autosomal recessive hypercholesterolemia
def: "A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. (DO)" [https://ghr.nlm.nih.gov/condition/hypercholesterolemia "DO", https://www.omim.org/entry/603813 "DO"]
synonym: "ARH" EXACT []
synonym: "ARH1" EXACT []
synonym: "ARH2" EXACT []
synonym: "autosomal recessive hypercholesterolemia 1" EXACT []
synonym: "autosomal recessive hypercholesterolemia 2" EXACT []
synonym: "familial autosomal recessive hypercholesterolemia" EXACT []
synonym: "familial hypercholesterolemia 4" EXACT []
synonym: "FHCB1" EXACT []
synonym: "FHCB2" EXACT []
synonym: "FHCL4" EXACT []
synonym: "HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA" EXACT []
xref: ICD10CM:E78.0
xref: MIM:603813
xref: NCI:C128114
xref: ORDO:391665
is_a: DOID:13810 ! familial hypercholesterolemia

[Term]
id: DOID:0090106
name: BH4-deficient hyperphenylalaninemia A
alt_id: MIM:261640
def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. (DO)" [https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency "DO", https://www.omim.org/entry/261640 "DO"]
synonym: "6-pyruvoyl-tetrahydropterin synthase deficiency" EXACT []
synonym: "HPABH4A" EXACT []
synonym: "HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY" NARROW []
synonym: "Hyperphenylalaninemia, BH4-Deficient, Type A" EXACT []
synonym: "Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" EXACT []
synonym: "PTS Deficiency" EXACT []
synonym: "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency" EXACT []
synonym: "tetrahydrobiopterin-deficient hyperphenylalaninemia, due to PTS deficiency" EXACT []
xref: GARD:5682
xref: MESH:C535325
xref: NCI:C138171
xref: ORDO:13
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
is_a: DOID:9281 ! phenylketonuria

[Term]
id: DOID:0090107
name: autosomal dominant hypocalcemia 1
def: "An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. (DO)" [https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia "DO", https://www.omim.org/entry/601198 "DO"]
synonym: "familial hypocalcemia" EXACT []
synonym: "hypercalciuric hypocalcemia" EXACT []
synonym: "Hypercalciuric Hypocalcemia, Familial" EXACT []
synonym: "HYPOC1" EXACT []
synonym: "hypoparathyroidism, autosomal dominant" EXACT []
xref: MESH:C562783
xref: MIM:601198
xref: MONDO:0011013
is_a: DOID:0090109 ! autosomal dominant hypocalcemia
is_a: DOID:11199 ! hypoparathyroidism
is_a: DOID:9001738 ! Hypercalciuria

[Term]
id: DOID:0090108
name: autosomal dominant hypocalcemia 2
def: "An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13. (DO)" [https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia "DO", https://www.omim.org/entry/615361 "DO"]
synonym: "HYPOC2" EXACT []
xref: MIM:615361
is_a: DOID:0090109 ! autosomal dominant hypocalcemia

[Term]
id: DOID:0090109
name: autosomal dominant hypocalcemia
alt_id: GARD:2877
alt_id: ICD10CM:E20.8
alt_id: ORDO:428
def: "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. (DO)" [https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia "DO", https://www.ncbi.nlm.nih.gov/pubmed/27803672 "DO"]
synonym: "HYPOC" EXACT []
xref: MIM:PS601198
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:896 ! metal metabolism disorder
is_a: DOID:9009050 ! Hypocalcemia

[Term]
id: DOID:0090110
name: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
alt_id: MIM:304790
def: "An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. (DO)" [https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome "DO", https://www.omim.org/entry/304790 "DO"]
synonym: "absence of islets of Langerhans" NARROW []
synonym: "autoimmune enteropathy type 1" EXACT []
synonym: "Autoimmunity-Immunodeficiency Syndrome, X-Linked" EXACT []
synonym: "Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea" EXACT []
synonym: "Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked" EXACT []
synonym: "DMSD" EXACT []
synonym: "Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy" EXACT []
synonym: "IDDM-Secretory Diarrhea Syndrome" EXACT []
synonym: "IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED" NARROW []
synonym: "INSULIN-DEPENDENT DIABETES MELLITUS SECRETORY DIARRHEA SYNDROME" EXACT []
synonym: "IPEX" EXACT []
synonym: "Ipex Syndrome" EXACT []
synonym: "XLAAD" EXACT []
synonym: "X-linked autoimmunity-allergic dysregulation syndrome" EXACT []
synonym: "X-linked immunodysregulation, polyendocrinopathy, and enteropathy" EXACT []
synonym: "X-linked polyendocrinopathy, immune dysfunction, and diarrhea" EXACT []
synonym: "XPID" EXACT []
xref: GARD:1850
xref: MESH:C580192
xref: ORDO:37042
is_a: DOID:0050129 ! secretory diarrhea
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0090111
name: PCWH syndrome
alt_id: MIM:609136
def: "A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. (DO)" [https://ghr.nlm.nih.gov/gene/SOX10#conditions "DO", https://www.omim.org/entry/609136 "DO"]
synonym: "neurologic Waardenburg-Shah syndrome" EXACT []
synonym: "PCWH" EXACT []
synonym: "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome" EXACT []
synonym: "Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease" EXACT []
synonym: "Waardenburg-Shah syndrome, neurologic variant" EXACT []
xref: ICD10CM:E75.2
xref: MESH:C563789
xref: ORDO:163746
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9258 ! Waardenburg syndrome

[Term]
id: DOID:0090112
name: Nasu-Hakola disease
alt_id: MIM:221770
def: "A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. (DO)" [https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/30042649 "DO", https://www.omim.org/entry/221770 "DO"]
synonym: "brain-bone-fat disease" EXACT []
synonym: "NHD" EXACT []
synonym: "PLO-SL" EXACT []
synonym: "PLOSL" EXACT []
synonym: "PLOSL1" EXACT []
synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" EXACT []
synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1" EXACT []
synonym: "prefrontal dementia with bone cysts" EXACT []
synonym: "presenile dementia with bone cysts" EXACT []
synonym: "progressive dementia with lipomembranous polycystic osteodysplasia" EXACT []
synonym: "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease" EXACT []
xref: GARD:9921
xref: MESH:C536329
xref: ORDO:2770
is_a: DOID:225 ! syndrome
is_a: DOID:8970 ! subacute sclerosing panencephalitis
is_a: DOID:9009089 ! Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly

[Term]
id: DOID:0090113
name: Riddle syndrome
alt_id: MIM:611943
def: "A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29255463 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30122534 "DO", https://www.omim.org/entry/611943 "DO"]
synonym: "radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome" EXACT []
synonym: "RIDL" EXACT []
synonym: "RNF168 deficiency" EXACT []
xref: EFO:0009055
xref: MESH:C567453
xref: ORDO:420741
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:8927 ! learning disability
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0090114
name: Sorsby's fundus dystrophy
alt_id: MIM:136900
alt_id: RDO:0013764
def: "A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26077580 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26239453 "DO", https://www.omim.org/entry/136900 "DO"]
synonym: "Fundus Dystrophy, Pseudoinflammatory, of Sorsby" EXACT []
synonym: "Macular Dystrophy, Hemorrhagic" EXACT []
synonym: "SFD" EXACT []
synonym: "Sorsby fundus dystrophy" EXACT []
xref: MESH:C564992
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4448 ! macular degeneration
is_a: DOID:8500 ! hereditary retinal dystrophy

[Term]
id: DOID:0090115
name: spinocerebellar ataxia with axonal neuropathy 1
alt_id: MIM:607250
def: "A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. (DO)" [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94124 "DO"]
synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy 1" EXACT []
synonym: "SCAN1" EXACT []
synonym: "spinocerebellar ataxia type 1 with axonal neuropathy" EXACT []
xref: GARD:10000
xref: ICD10CM:G60.2
xref: MESH:C537313
xref: ORDO:94124
is_a: DOID:9000588 ! Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy

[Term]
id: DOID:0090116
name: spondylocarpotarsal synostosis syndrome
alt_id: MIM:272460
def: "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. (DO)" [https://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/29566257 "DO", https://www.omim.org/entry/272460 "DO"]
synonym: "congenital scoliosis with unilateral unsegmented bar" EXACT []
synonym: "congenital synspondylism" EXACT []
synonym: "FLNB-related spectrum disorder" BROAD []
synonym: "SCT" EXACT []
synonym: "SCT syndrome" EXACT []
synonym: "spondylocarpotarsal syndrome" EXACT []
synonym: "spondylocarpotarsal synostosis" EXACT []
synonym: "vertebral fusion with carpal coalition" EXACT []
xref: GARD:4974
xref: ICD10CM:Q76.4
xref: MESH:C535780
xref: ORDO:3275
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060249 ! scoliosis
is_a: DOID:11971 ! synostosis
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0090117
name: thiamine-responsive megaloblastic anemia syndrome
def: "A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24. (DO)" [https://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1282/ "DO", https://www.omim.org/entry/249270 "DO"]
synonym: "Abboud syndrome" EXACT []
synonym: "Rogers syndrome" EXACT []
synonym: "thiamine metabolism dysfunction syndrome 1" EXACT []
synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type)" EXACT []
synonym: "thiamine-responsive anaemia syndrome" EXACT []
synonym: "thiamine-responsive anemia syndrome" EXACT []
synonym: "thiamine-responsive megaloblastic anaemia syndrome" EXACT []
synonym: "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness" EXACT []
synonym: "thiamine-responsive megaloblastic anemia" EXACT []
synonym: "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness" EXACT []
synonym: "thiamine responsive myelodysplasia" EXACT []
synonym: "THMD1" EXACT []
synonym: "TRMA" EXACT []
xref: GARD:9210
xref: MESH:C536510
xref: MIM:249270
xref: MONDO:0009575
xref: ORDO:498277
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070313 ! thiamine deficiency disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:13382 ! megaloblastic anemia
is_a: DOID:225 ! syndrome
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:0090118
name: congenital amegakaryocytic thrombocytopenia
def: "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29191945 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29384262 "DO", https://www.omim.org/entry/604498 "DO"]
synonym: "CAMT" EXACT []
synonym: "congenital amegakaryocytic thrombocytopenic purpura" EXACT []
xref: GARD:640
xref: MESH:C535982
xref: NCI:C115207
xref: ORDO:3319
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:0090119
name: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
alt_id: MIM:106260
def: "An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. (DO)" [https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/29339502 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29956718 "DO", https://www.omim.org/entry/106260 "DO"]
synonym: "AEC SYNDROME" EXACT []
synonym: "ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE" EXACT []
synonym: "Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome" EXACT []
synonym: "Ankyloblepharon-Ectodermal Defects-Cleft Lip-Cleft Palate" EXACT []
synonym: "Hay-Wells Syndrome" EXACT []
synonym: "Hay Wells syndrome dominant form" EXACT []
synonym: "Hay-Wells syndrome of ectodermal dysplasia" EXACT []
xref: MESH:C535847
xref: NCI:C157576
xref: ORDO:1071
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:0090120
name: hereditary neutrophilia
def: "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25189721 "DO", https://www.omim.org/entry/162830 "DO"]
xref: MESH:C563010
xref: MIM:162830
xref: MONDO:0008092
xref: ORDO:279943
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:0090122
name: aromatase excess syndrome
alt_id: DOID:9000705
alt_id: MESH:C000591739
alt_id: MESH:C564416
alt_id: MIM:139300
alt_id: MIM:613546
def: "A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. (DO)" [https://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome "DO", https://www.omim.org/entry/139300 "DO"]
synonym: "AEXS" EXACT []
synonym: "aromatase deficiency" EXACT []
synonym: "familial gynecomastia" EXACT []
synonym: "familial gynecomastia, due to increased aromatase activity" EXACT []
synonym: "familial hyperestrogenism" EXACT []
synonym: "female pseudohermaphroditism due to placental aromatase deficiency" EXACT []
synonym: "hereditary gynecomastia" NARROW []
synonym: "hereditary prepubertal gynecomastia" EXACT []
synonym: "increased aromatase activity" EXACT []
xref: GARD:12949
xref: ICD10CM:E30.1
xref: MESH:C537436
xref: ORDO:178345
is_a: DOID:12698 ! gynecomastia
is_a: DOID:15 ! reproductive system disease
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0090123
name: aromatic L-amino acid decarboxylase deficiency
alt_id: MIM:608643
def: "An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. (DO)" [https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency "DO", https://www.omim.org/entry/608643 "DO"]
synonym: "AADCD" EXACT []
synonym: "AADC deficiency" EXACT []
synonym: "aromatic amino acid decarboxylase deficiency" EXACT []
synonym: "DDC deficiency" EXACT []
synonym: "deficiency of aromatic-L-amino-acid decarboxylase" EXACT []
synonym: "DOPA decarboxylase deficiency" EXACT []
xref: GARD:770
xref: ICD10CM:E70.81
xref: MESH:C537437
xref: NCI:C142085
xref: ORDO:35708
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0090124
name: neurogenic-type arthrogryposis multiplex congenita-2
alt_id: DOID:9006267
alt_id: MIM:208100
def: "An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28317099 "DO", https://www.omim.org/entry/208100 "DO"]
synonym: "AMC2" EXACT []
synonym: "AMCN" EXACT []
synonym: "AMC, neurogenic type" EXACT []
synonym: "arthrogryposis multiplex congenita neurogenic type" EXACT []
synonym: "neurogenic arthrogryposis multiplex congenita" EXACT []
synonym: "neurogenic arthrogryposis multiplex congenita 2" EXACT []
synonym: "neurogenic type of AMC" EXACT []
xref: MESH:C536614
xref: ORDO:1143
is_a: DOID:0080954 ! arthrogryposis multiplex congenita

[Term]
id: DOID:0090125
name: brain small vessel disease 1
alt_id: MIM:175780
def: "A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. (DO)" [https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease "DO", https://ghr.nlm.nih.gov/condition/familial-porencephaly "DO", https://www.omim.org/entry/175780 "DO"]
synonym: "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy" EXACT []
synonym: "brain small vessel disease 1 with or without ocular anomalies" EXACT []
synonym: "brain small vessel disease with Axenfeld-Riegar anomaly" EXACT []
synonym: "brain small vessel disease with Axenfeld-Rieger anomaly" EXACT []
synonym: "brain small vessel disease with hemorrhage" EXACT []
synonym: "brain small vessel disease with or without ocular anomalies" EXACT []
synonym: "BSVD1" EXACT []
synonym: "COL4A1-related brain small-vessel disease" EXACT []
synonym: "COL4A1-related brain small vessel disease with hemorrhage" EXACT []
synonym: "COL4A1-related familial vascular leukoencephalopathy" EXACT []
synonym: "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome" EXACT []
synonym: "Gould syndrome 1" EXACT []
synonym: "infantile hemiparesis" EXACT []
synonym: "infantile hemiplegia with porencephaly" EXACT []
synonym: "leukoencephalopathy with Axenfeld-Riegar anomaly" EXACT []
synonym: "leukoencephalopathy with Axenfeld-Rieger anomaly" EXACT []
synonym: "porencephaly 1" RELATED []
synonym: "porencephaly type 1" RELATED []
synonym: "porencephaly type 1, autosomal dominant" RELATED []
synonym: "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" EXACT []
xref: MESH:C564372
xref: ORDO:36383
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112313 ! brain small vessel disease
is_a: DOID:9000062 ! Retinal Hemorrhage
is_a: DOID:9002704 ! Leukoencephalopathies

[Term]
id: DOID:0090126
name: branched-chain keto acid dehydrogenase kinase deficiency
def: "An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24449431 "DO", https://www.omim.org/entry/614901 "DO"]
synonym: "autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" EXACT []
synonym: "BCKDKD" EXACT []
synonym: "BCKDK deficiency" EXACT []
xref: MIM:614923
xref: ORDO:308410
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12849 ! autistic disorder
is_a: DOID:1826 ! epilepsy
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0090127
name: camptodactyly-arthropathy-coxa vara-pericarditis syndrome
alt_id: MIM:208250
def: "A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29397575 "DO", https://www.omim.org/entry/208250 "DO"]
synonym: "arthropathy camptodactyly syndrome" EXACT []
synonym: "CACP" EXACT []
synonym: "CACP syndrome" EXACT []
synonym: "camptodactyly arthropathy pericarditis syndrome" EXACT []
synonym: "CAP syndrome" EXACT []
synonym: "congenital familial hypertrophic synovitis" EXACT []
synonym: "familial fibrosing serositis" EXACT []
synonym: "Jacobs syndrome" EXACT []
synonym: "PAC syndrome" EXACT []
xref: EFO:0009028
xref: MESH:C537560
xref: ORDO:2848
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14286 ! neurogenic arthropathy
is_a: DOID:225 ! syndrome
is_a: DOID:2703 ! synovitis
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9005226 ! Coxa Vara

[Term]
id: DOID:0090128
name: Carvajal syndrome
alt_id: MIM:605676
def: "A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. (DO)" [https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair "DO", https://www.omim.org/entry/605676 "DO"]
synonym: "DCWHK" EXACT []
synonym: "dilated cardiomyopathy with woolly hair and keratoderma" EXACT []
synonym: "dilated cardiomyopathy, woolly hair, keratoderma" EXACT []
synonym: "Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy" EXACT []
synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" EXACT []
xref: GARD:5595
xref: MESH:C535581
xref: ORDO:65282
is_a: DOID:0070554 ! palmoplantar keratoderma and woolly hair
is_a: DOID:0080551 ! Naxos disease
is_a: DOID:12930 ! dilated cardiomyopathy
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0090129
name: carnitine palmitoyltransferase I deficiency
def: "A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. (DO)" [https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency "DO", https://www.omim.org/entry/255120 "DO"]
synonym: "carnitine palmitoyl transferase 1A deficiency" EXACT []
synonym: "carnitine palmitoyl transferase 1 deficiency" EXACT []
synonym: "carnitine palmitoyltransferase 1 deficiency" EXACT []
synonym: "Carnitine Palmitoyltransferase IA Deficiency" EXACT []
synonym: "carnitine palmitoyl transferase IA deficiency" EXACT []
synonym: "CARNITINE PALMITOYLTRANSFERASE TYPE I DEFICIENCY" EXACT []
synonym: "CPT 1A Deficiency" EXACT []
synonym: "CPT1A deficiency" EXACT []
synonym: "CPT Deficiency, Hepatic, Type I" EXACT []
synonym: "CPT deficiency, hepatic, type IA" EXACT []
synonym: "CPT I deficiency" EXACT []
synonym: "hepatic carnitine palmitoyl transferase 1 deficiency" EXACT []
synonym: "hepatic carnitine palmitoyltransferase 1 deficiency" EXACT []
synonym: "hepatic carnitine palmitoyl transferase I deficiency" EXACT []
synonym: "L-CPT1 deficiency" EXACT []
synonym: "liver form of carnitine palmitoyltransferase deficiency" EXACT []
xref: GARD:1120
xref: ICD10CM:E71.3
xref: MESH:C535588
xref: MIM:255120
xref: MONDO:0009705
xref: ORDO:156
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9993 ! hypoglycemia

[Term]
id: DOID:0090130
name: cortical dysplasia-focal epilepsy syndrome
alt_id: MIM:610042
def: "A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27439707 "DO", https://www.omim.org/entry/610042 "DO"]
synonym: "CDFES" EXACT []
synonym: "CDFE syndrome" EXACT []
synonym: "PITT-HOPKINS-LIKE SYNDROME 1" EXACT []
synonym: "PTHSL1" NARROW []
xref: MESH:C567657
xref: NCI:C133743
xref: ORDO:163681
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060488 ! Pitt-Hopkins syndrome

[Term]
id: DOID:0090131
name: complex cortical dysplasia with other brain malformations
def: "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20829227 "DO"]
synonym: "CDCBM" EXACT []
synonym: "Cerebral Cortical Dysplasia" EXACT []
synonym: "cerebral cortical dysplasias" EXACT []
synonym: "Cortical Development Malformation" EXACT []
synonym: "Cortical Development Malformations" EXACT []
synonym: "Cortical Dysplasia" EXACT []
synonym: "Cortical Dysplasias" EXACT []
synonym: "FCD" NARROW []
synonym: "Focal cortical dysplasia" NARROW []
synonym: "Malformations of Cerebral Cortex Development" EXACT []
synonym: "malformations of cortical development" EXACT []
xref: MESH:D054220
xref: MIM:PS614039
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9006534 ! Nervous System Malformations
is_a: DOID:936 ! brain disease

[Term]
id: DOID:0090132
name: complex cortical dysplasia with other brain malformations 7
def: "A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. (DO)" [https://ghr.nlm.nih.gov/condition/polymicrogyria "DO", https://www.ncbi.nlm.nih.gov/pubmed/30016746 "DO", https://www.omim.org/entry/610031 "DO"]
synonym: "CDCBM7" EXACT []
synonym: "PMGYSA" EXACT []
synonym: "polymicrogyria due to TUBB2B mutation" EXACT []
synonym: "POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC" EXACT []
synonym: "TUBB2B-RELATED CONDITION" EXACT []
xref: MIM:610031
xref: ORDO:300573
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations

[Term]
id: DOID:0090133
name: complex cortical dysplasia with other brain malformations 2
def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29048727 "DO", https://www.omim.org/entry/615282 "DO"]
synonym: "CDCBM2" EXACT []
xref: MIM:615282
xref: MONDO:0014116
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0090134
name: complex cortical dysplasia with other brain malformations 3
alt_id: RDO:9000937
def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29077851 "DO", https://www.omim.org/entry/615411 "DO"]
synonym: "CDCBM3" EXACT []
xref: MIM:615411
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0090135
name: complex cortical dysplasia with other brain malformations 5
def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", https://www.omim.org/entry/615763 "DO"]
synonym: "CDCBM5" EXACT []
synonym: "TUBB2A-RELATED CONDITION" EXACT []
xref: MIM:615763
xref: NCI:C189285
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0090136
name: complex cortical dysplasia with other brain malformations 6
def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30936767 "DO", https://www.omim.org/entry/615771 "DO"]
synonym: "CDCBM56" RELATED []
synonym: "CDCBM6" EXACT []
xref: MIM:615771
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0090137
name: complex cortical dysplasia with other brain malformations 1
def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/30016746 "DO", https://www.omim.org/entry/614039 "DO"]
synonym: "CDCBM1" EXACT []
synonym: "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" EXACT []
synonym: "TUBB3-RELATED CONDITION" BROAD []
synonym: "TUBB3-related disorder" BROAD []
synonym: "TUBB3-related tubulinopathy" BROAD []
xref: GARD:13032
xref: MIM:614039
xref: ORDO:300570
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0090138
name: complex cortical dysplasia with other brain malformations 4
alt_id: RDO:9000938
def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", https://www.omim.org/entry/615412 "DO"]
synonym: "CDCBM4" EXACT []
xref: MIM:615412
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0090139
name: cortisone reductase deficiency
alt_id: RDO:0002041
def: "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. (DO)" [https://en.wikipedia.org/wiki/Cortisone_reductase_deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/22476103 "DO"]
synonym: "11-beta-hydroxysteroid dehydrogenase, type i, deficiency of" EXACT []
synonym: "Adrenal Androgen Excess" EXACT []
synonym: "Adrenal Hyperandrogenism" EXACT []
synonym: "CORTRD" EXACT []
xref: EFO:0009007
xref: GARD:9882
xref: MESH:C536447
xref: MIM:PS604931
is_a: DOID:11613 ! hyperandrogenism
is_a: DOID:1701 ! steroid inherited metabolic disorder
is_a: DOID:9004507 ! Hirsutism

[Term]
id: DOID:0090140
name: cortisone reductase deficiency 2
def: "A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29843121 "DO", https://www.omim.org/entry/614662 "DO"]
synonym: "CORTRD2" EXACT []
xref: MIM:614662
xref: NCI:C131084
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0090139 ! cortisone reductase deficiency

[Term]
id: DOID:0090141
name: cortisone reductase deficiency 1
alt_id: RDO:9003339
def: "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29843121 "DO", https://www.omim.org/entry/604931 "DO"]
synonym: "CORTRD1" EXACT []
xref: MIM:604931
xref: NCI:C131849
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0090139 ! cortisone reductase deficiency
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:0090142
name: cystathioninuria
alt_id: MIM:219500
def: "An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20584029 "DO", https://www.omim.org/entry/219500 "DO"]
synonym: "cystathionase deficiency" EXACT []
synonym: "cystathione gamma-lyase deficiency syndrome" EXACT []
synonym: "gamma-cystathionase deficiency" EXACT []
xref: GARD:2428
xref: ICD10CM:E72.19
xref: MESH:C535408
xref: MESH:C562680
xref: NCI:C129070
xref: ORDO:212
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9252 ! amino acid metabolic disorder
is_a: DOID:9279 ! hyperhomocysteinemia

[Term]
id: DOID:0090143
name: brachyolmia-amelogenesis imperfecta syndrome
alt_id: MIM:601216
def: "A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30887145 "DO", https://www.omim.org/entry/601216 "DO"]
synonym: "DASS" EXACT []
synonym: "dental anomalies and short stature" EXACT []
synonym: "platyspondyly with amelogenesis imperfecta" EXACT []
synonym: "selective tooth agenesis 6" EXACT []
synonym: "skeletal dysplasia with amelogenesis imperfecta and platyspondyly" EXACT []
synonym: "STHAG6" EXACT []
synonym: "Verloes Bourguignon syndrome" EXACT []
xref: GARD:5478
xref: ICD10CM:Q76.3
xref: MESH:C536538
xref: MESH:C567755
xref: ORDO:2899
is_a: DOID:0050690 ! brachyolmia
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2187 ! amelogenesis imperfecta
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0090144
name: Donnai-Barrow syndrome
alt_id: MIM:222448
def: "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. (DO)" [https://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome "DO", https://www.omim.org/entry/222448 "DO"]
synonym: "DBS-FOAR syndrome" EXACT []
synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness" EXACT []
synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" EXACT []
synonym: "diaphragmatic hernia-exomphalos-corpus callosum agenesis" EXACT []
synonym: "diaphragmatic hernia-exomphalos-hypertelorism syndrome" EXACT []
synonym: "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" EXACT []
synonym: "facio-oculo-acoustico-renal syndrome" EXACT []
synonym: "faciooculoacousticorenal syndrome" EXACT []
synonym: "FOAR syndrome" EXACT []
synonym: "Holmes-Schepens syndrome" EXACT []
synonym: "LRP2-RELATED CONDITION" EXACT []
synonym: "syndrome of ocular and facial anomalies, telecanthus and deafness" EXACT []
xref: GARD:1899
xref: MESH:C536390
xref: ORDO:2143
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:11830 ! myopia
is_a: DOID:225 ! syndrome
is_a: DOID:3827 ! congenital diaphragmatic hernia
is_a: DOID:447 ! renal tubular transport disease
is_a: DOID:576 ! proteinuria
is_a: DOID:9001999 ! Agenesis of Corpus Callosum

[Term]
id: DOID:0090145
name: dopamine beta-hydroxylase deficiency
alt_id: MIM:223360
def: "An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34. (DO)" [https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency "DO", https://www.omim.org/entry/223360 "DO"]
synonym: "congenital dopamine beta hydroxylase deficiency" EXACT []
synonym: "dopamine b-hydroxylase" EXACT []
synonym: "noradrenaline deficiency" EXACT []
synonym: "norepinephrine deficiency" EXACT []
synonym: "orthostatic hypotension 1" EXACT []
synonym: "ORTHYP1" EXACT []
xref: GARD:1903
xref: MESH:C535600
xref: ORDO:230
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9005950 ! Orthostatic Hypotension

[Term]
id: DOID:0110000
name: 3-methylglutaconic aciduria type 5
alt_id: MIM:610198
alt_id: RDO:0014268
def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16055927 "DO"]
synonym: "3-methylglutaconic aciduria type V" EXACT []
synonym: "DCMA" EXACT []
synonym: "DCMA syndrome" EXACT []
synonym: "dilated cardiomyopathy with ataxia" EXACT []
synonym: "MGA5" EXACT []
synonym: "MGA type V" EXACT []
synonym: "MGCA5" EXACT []
xref: MESH:C565706
xref: NCI:C173146
xref: ORDO:66634
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:0060336 ! 3-methylglutaconic aciduria
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110001
name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
alt_id: RDO:9000156
def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22683713 "DO"]
synonym: "3-methylglutaconic aciduria type 6" EXACT []
synonym: "3-methylglutaconic aciduria type VI" EXACT []
synonym: "MEGDEL" EXACT []
synonym: "MEGDEL syndrome" EXACT []
synonym: "MGCA6" EXACT []
synonym: "SERAC1-RELATED NEUROLOGICAL DISORDER" EXACT []
xref: MIM:614739
xref: ORDO:352328
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060336 ! 3-methylglutaconic aciduria
is_a: DOID:225 ! syndrome
is_a: DOID:3652 ! Leigh disease
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:0110002
name: 3-methylglutaconic aciduria type 1
alt_id: MIM:250950
def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12434311/ "DO"]
synonym: "3-methylglutaconic aciduria type I" EXACT []
synonym: "3-methylglutaconyl-CoA hydratase deficiency" EXACT []
synonym: "3MG-CoA hydratase deficiency" EXACT []
synonym: "MGA1" EXACT []
synonym: "MGA type I" EXACT []
synonym: "MGCA1" EXACT []
xref: MESH:C562801
xref: ORDO:67046
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060336 ! 3-methylglutaconic aciduria

[Term]
id: DOID:0110003
name: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia
def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25597510 "DO"]
synonym: "3-methylglutaconic aciduria type 7" EXACT []
synonym: "3-methylglutaconic aciduria type VII" EXACT []
synonym: "3-methylglutaconic aciduria type VII, with cataracts, neurologic involvement and neutropenia" EXACT []
synonym: "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, autosomal recessive" NARROW []
synonym: "3-methylglutaconic aciduria with neurologic involvement and neutropenia, autosomal dominant" NARROW []
synonym: "MEGCANN" EXACT []
synonym: "MGA7" EXACT []
synonym: "MGCA7" EXACT []
xref: EFO:0009014
xref: ORDO:445038
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060336 ! 3-methylglutaconic aciduria
is_a: DOID:1227 ! neutropenia
is_a: DOID:83 ! cataract
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:0110004
name: 3-methylglutaconic aciduria type 3
alt_id: MIM:258501
def: "A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11668429 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12126933 "DO"]
synonym: "3-methylglutaconic aciduria, type III" EXACT []
synonym: "autosomal recessive optic atrophy plus syndrome" EXACT []
synonym: "autosomal recessive optic atrophy type 3" EXACT []
synonym: "Costeff optic atrophy syndrome" EXACT []
synonym: "Costeff syndrome" EXACT []
synonym: "infantile optic atrophy with chorea and spastic paraplegia" EXACT []
synonym: "Iraqi Jewish optic atrophy plus" EXACT []
synonym: "MGA3" EXACT []
synonym: "MGA, type III" EXACT []
synonym: "MGCA3" EXACT []
synonym: "OPA3, Autosomal Recessive" EXACT []
synonym: "Optic Atrophy 3, Autosomal Recessive" EXACT []
synonym: "optic atrophy plus syndrome" EXACT []
xref: MESH:C535311
xref: ORDO:67047
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060336 ! 3-methylglutaconic aciduria
is_a: DOID:12859 ! choreatic disease
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:5723 ! optic atrophy

[Term]
id: DOID:0110005
name: Leber congenital amaurosis 9
def: "A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22842230 "DO"]
synonym: "amaurosis congenita of Leber, type 9" EXACT []
synonym: "LCA9" EXACT []
synonym: "Leber congenital amaurosis, type 9" EXACT []
xref: MESH:C536603
xref: MIM:608553
xref: MONDO:0012056
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110006
name: 3-methylglutaconic aciduria type 4
alt_id: MIM:250951
alt_id: RDO:0014040
def: "A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21646875 "DO"]
synonym: "3-methylglutaconic aciduria type IV" EXACT []
synonym: "MGA4" EXACT []
synonym: "MGA Type IV" EXACT []
synonym: "MGCA4" EXACT []
xref: MESH:C565393
xref: ORDO:67048
is_a: DOID:0060336 ! 3-methylglutaconic aciduria
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0110007
name: achromatopsia 2
alt_id: MIM:216900
alt_id: OMIA:001481
def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11536077 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9662398 "DO"]
synonym: "ACHM2" EXACT []
synonym: "RMCH2" EXACT []
synonym: "Rod monochromacy 2" EXACT []
synonym: "Rod monochromatism 2" EXACT []
synonym: "total color blindness" EXACT []
synonym: "total colorblindness" EXACT []
xref: GARD:9649
xref: MESH:C536128
xref: NCI:C168757
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13911 ! achromatopsia

[Term]
id: DOID:0110008
name: achromatopsia 3
alt_id: MIM:262300
alt_id: OMIA:001365
alt_id: OMIA:001676
def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10888875 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17265047 "DO"]
synonym: "ACHM1" EXACT []
synonym: "ACHM 3" EXACT []
synonym: "ACHM3" EXACT []
synonym: "Achromatopsia (cone degeneration, hemeralopia)" EXACT []
synonym: "Achromatopsia with myopia" EXACT []
synonym: "AMAL" NARROW []
synonym: "GSPT" NARROW []
synonym: "Pingelapese" EXACT []
synonym: "Pingelapese Blindness" EXACT []
synonym: "RMCH1" EXACT []
synonym: "ROD MONOCHROMACY 1" EXACT []
synonym: "ROD MONOCHROMATISM 1" EXACT []
synonym: "total colorblindness with myopia" EXACT []
xref: GARD:9650
xref: MESH:C536129
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13911 ! achromatopsia

[Term]
id: DOID:0110009
name: achromatopsia 7
def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26029869 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26063662 "DO"]
synonym: "ACHM7" EXACT []
synonym: "ATF6-RELATED CONDITION" EXACT []
xref: MIM:616517
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13911 ! achromatopsia

[Term]
id: DOID:0110010
name: achromatopsia 4
alt_id: MIM:613856
def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12205108 "DO"]
synonym: "ACHM4" EXACT []
xref: MESH:C564206
is_a: DOID:13911 ! achromatopsia
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0110011
name: advanced sleep phase syndrome 1
alt_id: MIM:604348
def: "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11232563 "DO"]
synonym: "familial advanced sleep phase syndrome 1" EXACT []
synonym: "FASPS1" EXACT []
xref: MESH:C565789
is_a: DOID:0050628 ! advanced sleep phase syndrome

[Term]
id: DOID:0110012
name: advanced sleep phase syndrome 2
def: "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15800623 "DO"]
synonym: "familial advanced sleep phase syndrome 2" EXACT []
synonym: "FASPS2" EXACT []
xref: MIM:615224
is_a: DOID:0050628 ! advanced sleep phase syndrome

[Term]
id: DOID:0110013
name: advanced sleep phase syndrome 3
def: "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26903630 "DO"]
synonym: "familial advanced sleep phase syndrome 3" EXACT []
synonym: "FASPS3" EXACT []
xref: MIM:616882
is_a: DOID:0050628 ! advanced sleep phase syndrome
is_a: DOID:630 ! genetic disease
created_by: rgd
creation_date: 2017-08-08T00:00:00Z

[Term]
id: DOID:0110014
name: age related macular degeneration 1
alt_id: MIM:603075
def: "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14570714 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9715689 "DO"]
synonym: "age related maculopathy 1" EXACT []
synonym: "APOE2 Isoforms" RELATED []
synonym: "ARMD1" EXACT []
xref: MESH:C566411
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:0110015
name: age related macular degeneration 2
alt_id: MIM:153800
def: "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10396622 "DO"]
synonym: "age related macular degeneration 2, susceptibility to" RELATED []
synonym: "age related maculopathy 2" EXACT []
synonym: "ARMD2" EXACT []
xref: MESH:C562479
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:0110016
name: Leber congenital amaurosis 2
alt_id: MIM:204100
alt_id: OMIA:001222
def: "A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9326927 "DO"]
synonym: "amaurosis congenita of Leber II" EXACT []
synonym: "EARLY-ONSET RETINAL DYSTROPHY" EXACT []
synonym: "LCA2" EXACT []
synonym: "Leber congenital amaurosis type 2" EXACT []
synonym: "Leber congenital amaurosis type II" EXACT []
synonym: "RPE65-related disorder" BROAD []
xref: MESH:C536601
xref: MONDO:0008765
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110017
name: age related macular degeneration 4
alt_id: MIM:610698
def: "An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15761120 "DO"]
synonym: "ARMD4" EXACT []
xref: MESH:C565196
xref: NCI:C174215
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:0110018
name: age related macular degeneration 6
alt_id: MIM:613757
def: "An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15028672 "DO"]
synonym: "ARMD6" EXACT []
xref: MESH:C563674
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:0110019
name: age related macular degeneration 7
alt_id: MIM:610149
def: "An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17053108 "DO"]
synonym: "age-related macular degeneration, neovascular type, susceptibility" RELATED []
synonym: "ARMD7" EXACT []
synonym: "MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE" RELATED []
synonym: "MACULAR DEGENERATION, AGE-RELATED, WET TYPE" RELATED []
synonym: "MACULAR DEGENERATION, AGE-RELATED, WET TYPE, SUSCEPTIBILITY TO" RELATED []
synonym: "susceptibility to neovascular type of age-related macular degeneration" RELATED []
xref: MESH:C565718
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:0110020
name: age related macular degeneration 8
def: "An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17210852 "DO"]
synonym: "ARMD8" EXACT []
xref: MIM:613778
is_a: DOID:10871 ! age related macular degeneration
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0110021
name: age related macular degeneration 9
alt_id: MIM:611378
def: "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24036952 "DO"]
synonym: "age related macular degeneration 9, susceptibility to" RELATED []
synonym: "ARMD9" EXACT []
synonym: "C3S/C3F POLYMORPHISM" RELATED []
xref: MESH:C566958
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:0110022
name: age related macular degeneration 10
alt_id: MIM:611488
def: "An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14691731 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15829498 "DO"]
synonym: "age related macular degeneration 10, susceptibility to" RELATED []
synonym: "ARMD10" EXACT []
xref: MESH:C566935
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:0110023
name: age related macular degeneration 11
alt_id: MIM:611953
def: "An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11815350 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25893795 "DO"]
synonym: "ARMD11" EXACT []
xref: MESH:C567450
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:0110024
name: age related macular degeneration 12
def: "An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15208270 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17909628 "DO"]
synonym: "ARMD12" EXACT []
xref: MIM:613784
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:0110025
name: age related macular degeneration 13
def: "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23685748 "DO"]
synonym: "age-related macular degeneration 13, susceptibility to" RELATED []
synonym: "ARMD13" EXACT []
xref: MIM:615439
xref: NCI:C187704
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:0110026
name: age related macular degeneration 14
def: "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16518403 "DO"]
synonym: "ARMD14" EXACT []
synonym: "C2-RELATED DISORDER" BROAD []
synonym: "MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF" NARROW []
xref: MIM:615489
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:0110027
name: age related macular degeneration 15
def: "An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24036952 "DO"]
synonym: "ARMD15" EXACT []
synonym: "C9-RELATED CONDITION" BROAD []
xref: MIM:615591
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:0110028
name: age related macular degeneration 5
def: "An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16754848 "DO"]
synonym: "ARMD5" EXACT []
xref: MIM:613761
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:0110029
name: alpha thalassemia-intellectual disability syndrome type 1
alt_id: MIM:141750
def: "An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15921166 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18076105 "DO"]
synonym: "alpha thalassemia/impaired intellectual development syndrome, deletion type" EXACT []
synonym: "alpha-thalassemia/mental retardation syndrome, chromosome 16-related" EXACT []
synonym: "alpha-thalassemia/mental retardation syndrome, type 1" EXACT []
synonym: "alpha thalassemia-intellectual disability syndrome, deletion type" EXACT []
synonym: "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" EXACT []
synonym: "Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type" EXACT []
synonym: "alpha thalassemia-retardation syndrome" EXACT []
synonym: "ATR-16 syndrome" EXACT []
synonym: "ATR, deletion-type" EXACT []
synonym: "ATR syndrome, deletion type" EXACT []
synonym: "ATR syndrome linked to chromosome 16" EXACT []
synonym: "CHROMOSOME 16p DELETION SYNDROME" EXACT []
synonym: "HBHR" EXACT []
synonym: "hemoglobin H-related mental retardation" EXACT []
synonym: "mental retardation with hemoglobin H" EXACT []
xref: MESH:C563050
xref: ORDO:98791
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1099 ! alpha thalassemia

[Term]
id: DOID:0110030
name: alpha thalassemia-X-linked intellectual disability syndrome
alt_id: MIM:301040
def: "An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1415255 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7697714 "DO"]
synonym: "alpha-thalassemia-mental retardation syndrome, nondeletion type" EXACT []
synonym: "alpha-thalassemia mental retardation syndrome, non deletion type, X-linked" EXACT []
synonym: "alpha-thalassemia-mental retardation syndrome, nondeletion type, X-linked" EXACT []
synonym: "alpha-thalassemia-mental retardation, X-linked" EXACT []
synonym: "Alpha-thalassemia X-linked mental retardation syndrome" EXACT []
synonym: "ATR non deletion type" EXACT []
synonym: "ATR, nondeletion type" EXACT []
synonym: "ATRX" EXACT []
synonym: "ATRX-RELATED DISORDER" BROAD []
synonym: "ATR-X-RELATED SYNDROME" EXACT []
synonym: "ATR-X syndrome" EXACT []
synonym: "ATRX syndrome" EXACT []
synonym: "X-linked alpha-thalassemia/impaired intellectual development syndrome" EXACT []
synonym: "XLMR-hypotonic face syndrome" EXACT []
xref: GARD:5864
xref: ICD10CM:D56.0
xref: MESH:C538258
xref: NCI:C118631
xref: ORDO:847
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:1099 ! alpha thalassemia
is_a: DOID:225 ! syndrome
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:0110031
name: hemoglobin H disease
def: "An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12393486 "DO"]
synonym: "alpha thalassemia, haemoglobin H type" EXACT []
synonym: "alpha thalassemia, hemoglobin H type" EXACT []
synonym: "alpha-thalassemia intermedia" EXACT []
synonym: "haemoglobin H disease" EXACT []
synonym: "haemoglobin H disease, deletional" EXACT []
synonym: "HBH" EXACT []
synonym: "Hb H disease" EXACT []
synonym: "hemoglobin H disease, deletional" EXACT []
synonym: "hemoglobin H disease, nondeletional" EXACT []
xref: MIM:613978
xref: ORDO:93616
is_a: DOID:1099 ! alpha thalassemia
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0110032
name: autosomal dominant Alport syndrome
alt_id: MIM:104200
def: "An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11044206 "DO"]
synonym: "Alport syndrome 3A, autosomal dominant" EXACT []
synonym: "Alport syndrome 3, autosomal dominant" RELATED []
synonym: "ATS3" RELATED []
synonym: "ATS3A" EXACT []
synonym: "renal failure, and sensorineural hearing loss" EXACT []
xref: GARD:624
xref: MESH:C536586
xref: ORDO:88918
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10983 ! Alport syndrome

[Term]
id: DOID:0110033
name: autosomal recessive Alport syndrome
alt_id: MIM:203780
alt_id: MIM:620536
def: "An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25575550 "DO"]
synonym: "Alport syndrome-2" EXACT []
synonym: "Alport syndrome 2, autosomal recessive" EXACT []
synonym: "Alport syndrome 3B, autosomal recessive" EXACT []
synonym: "Alport syndrome type 2" EXACT []
synonym: "ATS2" EXACT []
synonym: "ATS3B" EXACT []
synonym: "COL4A4-RELATED CONDITION" BROAD []
xref: GARD:625
xref: MESH:C536587
xref: MONDO:0008762
xref: ORDO:88919
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10983 ! Alport syndrome

[Term]
id: DOID:0110034
name: X-linked Alport syndrome
alt_id: OMIA:001112
def: "An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2349482 "DO"]
synonym: "ALPORT SYNDROME 1, X-LINKED RECESSIVE" EXACT []
synonym: "ATS" EXACT []
synonym: "ATS1" EXACT []
synonym: "COL4A5-RELATED CONDITION" EXACT []
synonym: "nephropathy and deafness, X-linked" EXACT []
synonym: "X-linked Alport syndrome-1" EXACT []
synonym: "X-linked nephritis" EXACT []
xref: MIM:301050
xref: ORDO:88917
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:10983 ! Alport syndrome
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:0110035
name: Alzheimer's disease 2
alt_id: MIM:104310
def: "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8346443 "DO"]
synonym: "AD2" EXACT []
synonym: "Alzheimer's Disease Type 2" EXACT []
synonym: "Alzheimer Disease 2" EXACT []
synonym: "Alzheimer Disease 2, Late-Onset" EXACT []
synonym: "Alzheimer Disease Associated With Apoe4" EXACT []
synonym: "Alzheimer disease associated with APOE E4" EXACT []
synonym: "Alzheimer Disease Type 2" EXACT []
synonym: "BCHE, K VARIANT" RELATED []
synonym: "CHE*539T" RELATED []
synonym: "late-onset familial Alzheimer disease" EXACT []
xref: MESH:C536595
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110036
name: Alzheimer's disease 16
alt_id: MIM:300756
def: "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19136949 "DO"]
synonym: "AD16" EXACT []
synonym: "Alzheimer's disease 16, late onset" EXACT []
synonym: "Alzheimer Disease 16" EXACT []
xref: MESH:C567463
xref: RDO:0015527
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110037
name: Alzheimer's disease 5
alt_id: MIM:602096
alt_id: RDO:0014894
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9333264 "DO"]
synonym: "AD5" EXACT []
synonym: "Alzheimer's disease 5, late onset" EXACT []
synonym: "Alzheimer Disease 5" EXACT []
synonym: "Alzheimer Disease, Familial, 5" EXACT []
xref: MESH:C566578
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110038
name: Alzheimer's disease 6
alt_id: MIM:605526
alt_id: RDO:0013995
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16385451 "DO"]
synonym: "AD6" EXACT []
synonym: "Alzheimer Disease 6" EXACT []
synonym: "Alzheimer Disease 6, Late-Onset" NARROW []
xref: MESH:C565325
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110039
name: Alzheimer's disease 7
alt_id: MIM:606187
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11443525 "DO"]
synonym: "AD7" EXACT []
synonym: "Alzheimer Disease 7" EXACT []
synonym: "Alzheimer Disease, Familial, 7" EXACT []
xref: MESH:C565251
xref: RDO:0013945
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110040
name: Alzheimer's disease 4
alt_id: MIM:606889
def: "An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12925374 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7638622 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7651536 "DO"]
synonym: "AD4" EXACT []
synonym: "Alzheimer's disease 4, early onset" EXACT []
synonym: "Alzheimer's disease type 4" EXACT []
synonym: "Alzheimer disease 4" EXACT []
synonym: "Alzheimer disease, familial, 4" EXACT []
synonym: "Alzheimer disease, familial4" EXACT []
synonym: "Alzheimer disease, familial, type 4" EXACT []
synonym: "Alzheimer disease type 4" EXACT []
xref: MESH:C536596
xref: NCI:C123413
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110041
name: Alzheimer's disease 8
alt_id: MIM:607116
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9008509 "DO"]
synonym: "AD8" EXACT []
synonym: "Alzheimer's disease 8, late onset" EXACT []
synonym: "Alzheimer disease 8" EXACT []
synonym: "Alzheimer disease, familial, 8" EXACT []
xref: MESH:C564622
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110042
name: Alzheimer's disease 3
alt_id: MIM:607822
def: "An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1303290 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7596406 "DO"]
synonym: "AD3" EXACT []
synonym: "Alzheimer disease 3" EXACT []
synonym: "Alzheimer disease 3, early-onset" EXACT []
synonym: "Alzheimer disease familial 3" EXACT []
synonym: "Alzheimer disease, familial, type 3" EXACT []
synonym: "Alzheimer disease, type 3" EXACT []
synonym: "EARLY ONSET ALZHEIMER DISEASE WITH BEHAVIORAL DISTURBANCE" NARROW []
xref: MESH:C536598
xref: NCI:C123412
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110043
name: Alzheimer's disease 10
alt_id: MIM:609636
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16175510 "DO"]
synonym: "AD10" EXACT []
synonym: "Alzheimer's disease 10, early onset" EXACT []
synonym: "Alzheimer disease 10" EXACT []
synonym: "Alzheimer disease, familial 10" EXACT []
xref: ICD10CM:G30
xref: MESH:C566465
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110044
name: Alzheimer's disease 11
alt_id: MIM:609790
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18761660 "DO"]
synonym: "AD11" EXACT []
synonym: "Alzheimer's disease 11, late onset" EXACT []
synonym: "Alzheimer disease 11" EXACT []
synonym: "Alzheimer disease, familial 11" EXACT []
xref: MESH:C565228
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110045
name: Alzheimer's disease 12
alt_id: MIM:611073
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16825432 "DO"]
synonym: "AD12" EXACT []
synonym: "Alzheimer disease 12" EXACT []
synonym: "Alzheimer disease familial 12" EXACT []
xref: MESH:C567022
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110046
name: Alzheimer's disease 13
alt_id: MIM:611152
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17564960 "DO"]
synonym: "AD13" EXACT []
synonym: "Alzheimer's disease 13, late onset" EXACT []
synonym: "Alzheimer disease 13" EXACT []
xref: MESH:C567000
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110047
name: Alzheimer's disease 14
alt_id: MIM:611154
def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17564960 "DO"]
synonym: "AD14" EXACT []
synonym: "Alzheimer's disease 14, late onset" EXACT []
synonym: "Alzheimer disease 14" EXACT []
xref: MESH:C566999
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110048
name: Alzheimer's disease 15
alt_id: MESH:C536599
alt_id: MIM:604154
def: "An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17564960 "DO"]
synonym: "AD15" EXACT []
synonym: "Alzheimer's disease 15, late onset" EXACT []
synonym: "Alzheimer's disease without neurofibrillary tangles" EXACT []
synonym: "Alzheimer's disease without Tau pathology" EXACT []
synonym: "Alzheimer disease 15" EXACT []
synonym: "Alzheimer disease without neurofibrillary tangles" EXACT []
xref: GARD:7190
xref: MESH:C566998
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110049
name: Alzheimer's disease 17
def: "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23150934 "DO"]
synonym: "AD17" EXACT []
synonym: "Alzheimer disease 17" EXACT []
synonym: "Alzheimer disease 17, late onset" EXACT []
xref: MIM:615080
xref: NCI:C169104
xref: RDO:9001837
is_a: DOID:10652 ! Alzheimer's disease
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:0110050
name: Alzheimer's disease 18
def: "An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19608551 "DO"]
synonym: "AD18" EXACT []
synonym: "Alzheimer's disease 18, late onset" EXACT []
synonym: "Alzheimer disease 18" EXACT []
synonym: "late-onset Alzheimer disease-18" EXACT []
xref: MIM:615590
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110051
name: Alzheimer's disease 19
def: "An Alzheimer's disease that is characterized by associated variants of the gene PLD3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24336208 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25832408 "DO"]
synonym: "AD19" EXACT []
synonym: "Alzheimer Disease 19" EXACT []
synonym: "Alzheimer disease 19 late onset" EXACT []
synonym: "ALZHEIMER DISEASE 19, SUSCEPTIBILITY TO" RELATED []
xref: MIM:615711
xref: RDO:9001334
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0110052
name: amelogenesis imperfecta type 1B
def: "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11487571 "DO"]
synonym: "AI1B" EXACT []
synonym: "AIH2" EXACT []
synonym: "amelogenesis imperfecta, dominant" RELATED []
synonym: "amelogenesis imperfecta type IB" EXACT []
synonym: "hereditary localized enamel hypoplasia" EXACT []
synonym: "hypoplastic local amelogenesis imperfecta, autosomal dominant" EXACT []
xref: MESH:C562879
xref: MIM:104500
xref: MONDO:0007092
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2187 ! amelogenesis imperfecta

[Term]
id: DOID:0110053
name: amelogenesis imperfecta type 4
alt_id: MIM:104510
alt_id: RDO:0014687
def: "An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15666299 "DO"]
synonym: "AI4" EXACT []
synonym: "AIHHT" EXACT []
synonym: "Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism" EXACT []
synonym: "amelogenesis imperfecta type IV" EXACT []
xref: MESH:C566293
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2187 ! amelogenesis imperfecta

[Term]
id: DOID:0110054
name: amelogenesis imperfecta type 1A
alt_id: MIM:104530
alt_id: RDO:0004192
def: "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23632796 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23958762 "DO"]
synonym: "AI1A" EXACT []
synonym: "AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA" EXACT []
synonym: "Amelogenesis Imperfecta Local Hypoplastic Form" EXACT []
synonym: "AMELOGENESIS IMPERFECTA, TYPE IA" EXACT []
synonym: "generalized microdontia" EXACT []
synonym: "Hypoplastic type amelogenesis imperfecta" EXACT []
synonym: "Local, hypoplastic type of amelogenesis imperfecta" EXACT []
xref: MESH:C538240
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2187 ! amelogenesis imperfecta

[Term]
id: DOID:0110055
name: amelogenesis imperfecta type 3A
alt_id: MIM:130900
def: "An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252228 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18484629 "DO"]
synonym: "ADHCAI" EXACT []
synonym: "AI3A" EXACT []
synonym: "amelogenesis imperfecta, hypocalcification type, autosomal dominant" EXACT []
synonym: "amelogenesis imperfecta hypomineralization type" EXACT []
synonym: "amelogenesis imperfecta type IIIA" EXACT []
xref: MESH:C562880
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111721 ! amelogenesis imperfecta type 3

[Term]
id: DOID:0110056
name: amelogenesis imperfecta type 1C
alt_id: MIM:204650
def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14684688 "DO"]
synonym: "AI1C" EXACT []
synonym: "Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive" EXACT []
synonym: "amelogenesis imperfecta, recessive" RELATED []
synonym: "amelogenesis imperfecta type IC" EXACT []
synonym: "hypoplastic amelogenesis imperfecta, with or without openbite malocclusion, autosomal recessive" EXACT []
xref: MESH:C567147
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2187 ! amelogenesis imperfecta

[Term]
id: DOID:0110057
name: amelogenesis imperfecta type 2A1
alt_id: MESH:C538242
alt_id: MIM:204700
def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15235027 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23355523 "DO"]
synonym: "AI2A1" EXACT []
synonym: "amelogenesis imperfecta, hypomaturation type, IIA1" EXACT []
synonym: "amelogenesis imperfecta pigmented hypomaturation type" EXACT []
synonym: "amelogenesis imperfecta pigmented hypomaturation type 1" EXACT []
synonym: "amelogenesis imperfecta type IIA1" EXACT []
xref: GARD:9495
xref: MESH:C567146
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type

[Term]
id: DOID:0110058
name: amelogenesis imperfecta type 1E
alt_id: MIM:301200
def: "An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX). (DO)" [https://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta "DO", https://www.omim.org/entry/301200 "DO"]
synonym: "AI1E" EXACT []
synonym: "AIH1" EXACT []
synonym: "AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH" EXACT []
synonym: "amelogenesis imperfecta hypomaturationtype with snow-capped teeth" EXACT []
synonym: "Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1" EXACT []
synonym: "Amelogenesis Imperfecta, Type 1E, with Snow-Capped Teeth" EXACT []
synonym: "amelogenesis imperfecta type IE" EXACT []
synonym: "amelogenesis imperfecta, X-linked 1" EXACT []
synonym: "X-linked enamel hypoplasia" BROAD []
xref: MESH:C538243
xref: MESH:C564463
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:2187 ! amelogenesis imperfecta

[Term]
id: DOID:0110059
name: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
def: "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1358807 "DO"]
synonym: "AIH3" EXACT []
synonym: "AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE" EXACT []
synonym: "amelogenesis imperfecta  type IE X-linked 2" EXACT []
synonym: "X-linked enamel hypoplasia" BROAD []
xref: MIM:301201
is_a: DOID:2187 ! amelogenesis imperfecta

[Term]
id: DOID:0110060
name: amelogenesis imperfecta hypomaturation type 2A2
def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15744043 "DO"]
synonym: "AI2A2" EXACT []
synonym: "amelogenesis imperfecta hypomaturation type IIA2" EXACT []
synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 2" EXACT []
synonym: "amelogenesis imperfecta type IIA2" EXACT []
xref: MESH:C567279
xref: MIM:612529
xref: MONDO:0012926
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type

[Term]
id: DOID:0110061
name: amelogenesis imperfecta hypomaturation type 2A3
alt_id: MIM:613211
def: "An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19853237 "DO"]
synonym: "AI2A3" EXACT []
synonym: "amelogenesis imperfecta hypomaturation type IIA3" EXACT []
synonym: "amelogenesis imperfecta type IIA3" EXACT []
xref: MESH:C567706
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type

[Term]
id: DOID:0110062
name: amelogenesis imperfecta hypomaturation type 2A4
alt_id: RDO:9000167
def: "An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22901946 "DO"]
synonym: "AI2A4" EXACT []
synonym: "amelogenesis imperfecta, hypomaturation type IIA4" EXACT []
synonym: "amelogenesis imperfecta type IIA4" EXACT []
xref: MIM:614832
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type

[Term]
id: DOID:0110063
name: amelogenesis imperfecta hypomaturation type 2A5
def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23375655 "DO"]
synonym: "AI2A5" EXACT []
synonym: "amelogenesis imperfecta, hypomaturation type, IIA5" EXACT []
synonym: "amelogenesis imperfecta type IIA5" EXACT []
xref: MIM:615887
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type

[Term]
id: DOID:0110064
name: amelogenesis imperfecta type 1H
alt_id: RDO:9001338
def: "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24305999 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24319098 "DO"]
synonym: "AI1H" EXACT []
synonym: "amelogenesis imperfecta type IH" EXACT []
xref: ICD10CM:K00.5
xref: MIM:616221
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2187 ! amelogenesis imperfecta

[Term]
id: DOID:0110065
name: amelogenesis imperfecta type 1F
def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24858907 "DO"]
synonym: "AI1F" EXACT []
synonym: "amelogenesis imperfecta, hypoplastic type 1F" EXACT []
synonym: "amelogenesis imperfecta, hypoplastic type IF" EXACT []
synonym: "amelogenesis imperfecta type IF" EXACT []
xref: MIM:616270
xref: MONDO:0014560
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2187 ! amelogenesis imperfecta

[Term]
id: DOID:0110066
name: amelogenesis imperfecta type 1G
alt_id: MIM:204690
def: "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23468644 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24196488 "DO"]
synonym: "absent enamel, nephrocalcinosis and apparently normal calcium metabolism" EXACT []
synonym: "AI1G" EXACT []
synonym: "AIGFS" EXACT []
synonym: "AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME" EXACT []
synonym: "AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH NEPHROCALCINOSIS" EXACT []
synonym: "amelogenesis imperfecta nephrocalcinosis" EXACT []
synonym: "amelogenesis imperfecta type IG" EXACT []
synonym: "enamel-renal-gingival syndrome" EXACT []
synonym: "enamel renal syndrome" EXACT []
synonym: "ERS" EXACT []
synonym: "generalized enamel hypoplasia and renal dysfunction" EXACT []
synonym: "hypoplastic amelogenesis imperfecta and nephrocalcinosis" EXACT []
xref: MESH:C538241
xref: ORDO:1031
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12679 ! nephrocalcinosis
is_a: DOID:2187 ! amelogenesis imperfecta

[Term]
id: DOID:0110067
name: juvenile amyotrophic lateral sclerosis with dementia
alt_id: MIM:205200
alt_id: RDO:0014456
def: "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5692341 "DO"]
synonym: "ALS-Dementia Complex" EXACT []
xref: MESH:C565956
is_a: DOID:1307 ! dementia
is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis

[Term]
id: DOID:0110068
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 3
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22084127 "DO"]
synonym: "FTDALS3" EXACT []
xref: MIM:616437
is_a: DOID:630 ! genetic disease
is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis

[Term]
id: DOID:0110069
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 4
def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25700176 "DO"]
synonym: "FTDALS4" EXACT []
xref: MIM:616439
is_a: DOID:630 ! genetic disease
is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis

[Term]
id: DOID:0110070
name: arrhythmogenic right ventricular dysplasia 1
alt_id: MIM:107970
def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15639475 "DO"]
synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1" EXACT []
synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 1" EXACT []
synonym: "ARVC1" EXACT []
synonym: "ARVD1" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 1" EXACT []
synonym: "right ventricular dilated cardiomyopathy" RELATED []
synonym: "UHL ANOMALY" RELATED []
xref: ICD10CM:I42.8
xref: ICD10CM:Q24.8
xref: MESH:C566254
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110072
name: arrhythmogenic right ventricular dysplasia 3
alt_id: MIM:602086
def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8824801 "DO"]
synonym: "Arrhythmogenic Right Ventricular Cardiomyopathy 3" EXACT []
synonym: "ARVC3" EXACT []
synonym: "ARVD3" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 3" EXACT []
xref: MESH:C566584
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110073
name: arrhythmogenic right ventricular dysplasia 4
alt_id: MIM:602087
def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9344647 "DO"]
synonym: "arrhythmogenic right ventricular cardiomyopathy 4" EXACT []
synonym: "ARVC4" EXACT []
synonym: "ARVD4" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 4" EXACT []
xref: MESH:C566583
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110074
name: arrhythmogenic right ventricular dysplasia 5
alt_id: MIM:604400
alt_id: RDO:0014323
def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18313022 "DO"]
synonym: "Arrhythmogenic Right Ventricular Cardiomyopathy 5" EXACT []
synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 5" EXACT []
synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, TYPE 5" EXACT []
synonym: "ARVC5" EXACT []
synonym: "ARVD5" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 5" EXACT []
xref: MESH:C565776
xref: NCI:C173470
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110075
name: arrhythmogenic right ventricular dysplasia 6
alt_id: MIM:604401
def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10631146 "DO"]
synonym: "Arrhythmogenic Right Ventricular Cardiomyopathy 6" EXACT []
synonym: "ARVC6" EXACT []
synonym: "ARVD6" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 6" EXACT []
xref: MESH:C565775
xref: RDO:0014322
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy

[Term]
id: DOID:0110076
name: arrhythmogenic right ventricular dysplasia 8
alt_id: MIM:607450
def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12373648 "DO"]
synonym: "arrhythmogenic right ventricular cardiomyopathy 8" EXACT []
synonym: "arrhythmogenic right ventricular cardiomyopathy, type 8" EXACT []
synonym: "ARVC8" EXACT []
synonym: "ARVD8" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 8" EXACT []
xref: MESH:C564400
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110077
name: arrhythmogenic right ventricular dysplasia 9
alt_id: MIM:609040
def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15489853 "DO"]
synonym: "arrhythmogenic right ventricular cardiomyopathy 9" EXACT []
synonym: "arrhythmogenic right ventricular cardiomyopathy, type 9" EXACT []
synonym: "ARVC9" EXACT []
synonym: "ARVD9" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 9" EXACT []
xref: MESH:C563808
xref: NCI:C173471
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110078
name: Leber congenital amaurosis 1
alt_id: MIM:204000
def: "A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8944027 "DO"]
synonym: "amaurosis congenita of Leber I" EXACT []
synonym: "amaurosis congenita of Leber, type 1" EXACT []
synonym: "CRB" EXACT []
synonym: "LCA1" EXACT []
synonym: "Leber congenital amaurosis, type 1" EXACT []
xref: MESH:C536600
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110079
name: Leber congenital amaurosis 8
def: "A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11231775 "DO"]
synonym: "LCA8" EXACT []
xref: MIM:613835
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110080
name: Leber congenital amaurosis 12
def: "A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17186464 "DO"]
synonym: "LCA12" EXACT []
synonym: "Rod-cone dysplasia 2" EXACT []
xref: MESH:C565697
xref: MIM:610612
xref: OMIA:001260
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110081
name: arrhythmogenic right ventricular dysplasia 10
alt_id: MIM:610193
def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16505173 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17105751 "DO"]
synonym: "arrhythmogenic right ventricular cardiomyopathy 10" EXACT []
synonym: "arrhythmogenic right ventricular cardiomyopathy, type 10" EXACT []
synonym: "ARVC10" EXACT []
synonym: "ARVD10" EXACT []
synonym: "DSG2-RELATED CONDITION" BROAD []
synonym: "familial arrhythmogenic right ventricular dysplasia 10" EXACT []
xref: MESH:C565707
xref: MONDO:0012434
xref: NCI:C177248
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110082
name: arrhythmogenic right ventricular dysplasia 11
alt_id: MIM:610476
def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17033975 "DO"]
synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11" NARROW []
synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 11" EXACT []
synonym: "ARVC11" EXACT []
synonym: "ARVD11" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 11" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 11, and mild palmoplantar keratoderma with or without woolly hair" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 11, with mild palmoplantar keratoderma and woolly hair" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 11, with or without mild palmoplantar keratoderma" EXACT []
xref: MESH:C566471
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy

[Term]
id: DOID:0110083
name: arrhythmogenic right ventricular dysplasia 12
alt_id: MIM:611528
def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17924338/ "DO"]
synonym: "arrhythmogenic right ventricular cardiomyopathy 12" EXACT []
synonym: "ARVC12" EXACT []
synonym: "ARVD12" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 12" EXACT []
xref: MESH:C566925
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110084
name: arrhythmogenic right ventricular dysplasia 13
def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23136403 "DO"]
synonym: "arrhythmogenic right ventricular cardiomyopathy 13" EXACT []
synonym: "ARVC13" EXACT []
synonym: "ARVD13" EXACT []
synonym: "familial arrhythmogenic right ventricular dysplasia 13" EXACT []
xref: MIM:615616
xref: NCI:C176008
is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110085
name: asphyxiating thoracic dystrophy 1
alt_id: MIM:208500
def: "An asphyxiating thoracic dystrophy associated with variation in the region 15q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20503315 "DO"]
synonym: "asphyxiating thoracic chondrodystrophy" EXACT []
synonym: "asphyxiating thoracic dysplasia" EXACT []
synonym: "ATD1" EXACT []
synonym: "chondroectodermal dysplasia-like syndrome" EXACT []
synonym: "infantile thoracic dystrophy" EXACT []
synonym: "short-rib thoracic dysplasia 1 with or without polydactyly" EXACT []
synonym: "SRTD1" EXACT []
synonym: "thoracic asphyxiant dystrophy" EXACT []
xref: MESH:C537571
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12714 ! Ellis-Van Creveld syndrome

[Term]
id: DOID:0110086
name: asphyxiating thoracic dystrophy 2
alt_id: MIM:611263
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17468754 "DO"]
synonym: "ATD2" EXACT []
synonym: "short-rib thoracic dysplasia 2 with or without polydactyly" EXACT []
synonym: "SRTD2" EXACT []
xref: MESH:C566982
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12714 ! Ellis-Van Creveld syndrome

[Term]
id: DOID:0110087
name: asphyxiating thoracic dystrophy 3
alt_id: DOID:0050549
alt_id: MIM:613091
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19442771 "DO"]
synonym: "ATD3" EXACT []
synonym: "DYNC2H1-related condition" BROAD []
synonym: "DYNC2H1-related disorder" BROAD []
synonym: "polydactyly with neonatal chondrodystrophy, type 1" EXACT []
synonym: "polydactyly with neonatal chondrodystrophy, type 3" EXACT []
synonym: "polydactyly with neonatal chondrodystrophy, type I" EXACT []
synonym: "polydactyly with neonatal chondrodystrophy, type III" EXACT []
synonym: "Saldino-Noonan syndrome" EXACT []
synonym: "short rib polydactyly syndrome, Saldino Noonan type" EXACT []
synonym: "short rib polydactyly syndrome type 1" EXACT []
synonym: "short rib-polydactyly syndrome, type I" EXACT []
synonym: "short rib-polydactyly syndrome, type IIB" EXACT []
synonym: "short rib-polydactyly syndrome, type III" EXACT []
synonym: "short rib-polydactyly syndrome, Verma-Naumoff type" EXACT []
synonym: "short-rib thoracic dysplasia 3 with or without polydactyly" EXACT []
synonym: "SRPS1" EXACT []
synonym: "SRPS2B" EXACT []
synonym: "SRPS3" EXACT []
synonym: "SRPS type 1" EXACT []
synonym: "SRTD3" EXACT []
synonym: "Verma-Naumoff syndrome" EXACT []
xref: GARD:4834
xref: GARD:4835
xref: MESH:C537602
xref: NCI:C163755
xref: ORDO:93270
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110088
name: asphyxiating thoracic dystrophy 4
def: "An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21258341 "DO"]
synonym: "ATD4" EXACT []
synonym: "short-rib thoracic dysplasia 4 with or without polydactyly" EXACT []
synonym: "SRTD4" EXACT []
synonym: "TTC21B-related disorder" BROAD []
xref: MIM:613819
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11162 ! respiratory failure

[Term]
id: DOID:0110089
name: asphyxiating thoracic dystrophy 5
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22019273 "DO"]
synonym: "ATD5" EXACT []
synonym: "short-rib thoracic dysplasia 5 with or without polydactyly" EXACT []
synonym: "SRTD5" EXACT []
xref: MIM:614376
xref: MONDO:0013717
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11162 ! respiratory failure

[Term]
id: DOID:0110090
name: short-rib thoracic dysplasia 7 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17935248 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21473986 "DO"]
synonym: "short rib-polydactyly syndrome 5" EXACT []
synonym: "short rib-polydactyly syndrome type V" EXACT []
synonym: "SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC" NARROW []
synonym: "short-rib thoracic dysplasia 7 without polydactyly" NARROW []
synonym: "short-rib thoracic dysplasia 7 with polydactyly, digenic" NARROW []
synonym: "SRPS5" EXACT []
synonym: "SRTD7" EXACT []
synonym: "WDR35-related disorder" BROAD []
xref: MIM:614091
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080578 ! digenic disease

[Term]
id: DOID:0110091
name: short-rib thoracic dysplasia 10 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24140113 "DO"]
synonym: "SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY" NARROW []
synonym: "short-rib thoracic dysplasia 10 with polydactyly" NARROW []
synonym: "SRTD10" EXACT []
xref: MIM:615630
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110092
name: short-rib thoracic dysplasia 6 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21211617 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22499340 "DO"]
synonym: "Majewski syndrome" EXACT []
synonym: "NEK1-RELATED CONDITION" BROAD []
synonym: "polydactyly with neonatal chondrodystrophy, type 2" EXACT []
synonym: "polydactyly with neonatal chondrodystrophy, type II" EXACT []
synonym: "Short Rib Polydactyly Syndrome, Type II" EXACT []
synonym: "Short Rib-Polydactyly Syndrome, Type IIA" EXACT []
synonym: "SRPS2A" EXACT []
synonym: "SRPS type II" EXACT []
synonym: "SRTD6" EXACT []
xref: MIM:263520
xref: NCI:C122654
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0110093
name: short-rib thoracic dysplasia 13 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25361962 "DO"]
synonym: "SRTD13" EXACT []
xref: MIM:616300
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
created_by: rgd
creation_date: 2017-04-06T00:00:00Z

[Term]
id: DOID:0110094
name: short-rib thoracic dysplasia 8 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23910462 "DO"]
synonym: "short rib polydactyly syndrome 6" EXACT []
synonym: "SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI" EXACT []
synonym: "SRPS6" EXACT []
synonym: "SRTD8" EXACT []
xref: MIM:615503
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110095
name: short-rib thoracic dysplasia 11 with or without polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24183449 "DO"]
synonym: "DYNC2I2-RELATED CONDITION" EXACT []
synonym: "SRTD11" EXACT []
xref: ICD10CM:Q77.2
xref: MIM:615633
xref: MONDO:0014287
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110096
name: short-rib thoracic dysplasia 14 with polydactyly
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26166481 "DO"]
synonym: "KIAA0586-RELATED CONDITION" BROAD []
synonym: "SRTD14" EXACT []
xref: MIM:616546
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
created_by: rgd
creation_date: 2017-04-06T00:00:00Z

[Term]
id: DOID:0110097
name: short-rib thoracic dysplasia 9 with or without polydactyly
alt_id: MIM:266920
def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22503633 "DO"]
synonym: "conorenal dysplasia" EXACT []
synonym: "conorenal syndrome" EXACT []
synonym: "Mainzer-Saldino chondrodysplasia" EXACT []
synonym: "Mainzer-Saldino disease" EXACT []
synonym: "Mainzer-Saldino syndrome" EXACT []
synonym: "MZSDS" EXACT []
synonym: "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia" EXACT []
synonym: "short-rib thoracic dysplasia 9" EXACT []
synonym: "short-rib thoracic dysplasia without polydactyly" RELATED []
synonym: "SRTD9" EXACT []
xref: MESH:C535463
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110098
name: atopic dermatitis 2
alt_id: MIM:605803
def: "An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16912508 "DO"]
synonym: "ATOD2" EXACT []
synonym: "atopic dermatitis, susceptibility to, 2" RELATED []
synonym: "FLG-RELATED CONDITION" BROAD []
synonym: "FLG-RELATED DISORDERS" BROAD []
xref: MESH:C565293
is_a: DOID:3310 ! atopic dermatitis

[Term]
id: DOID:0110099
name: atopic dermatitis 3
alt_id: MIM:605804
def: "An atopic dermatitis associated with variation in the region 20p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11279517 "DO"]
synonym: "ATOD3" EXACT []
synonym: "Dermatitis, Atopic, with Asthma" EXACT []
xref: MESH:C565292
is_a: DOID:2841 ! asthma
is_a: DOID:3310 ! atopic dermatitis

[Term]
id: DOID:0110100
name: atopic dermatitis 4
alt_id: MIM:605805
def: "An atopic dermatitis associated with variation in the region 17q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11279517 "DO"]
synonym: "ATOD4" EXACT []
xref: MESH:C565291
is_a: DOID:3310 ! atopic dermatitis

[Term]
id: DOID:0110101
name: atopic dermatitis 5
alt_id: MIM:605844
def: "An atopic dermatitis associated with variation in the region 13q12-q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11069631 "DO"]
synonym: "ATOD5" EXACT []
xref: MESH:C565280
is_a: DOID:3310 ! atopic dermatitis

[Term]
id: DOID:0110102
name: atopic dermatitis 6
alt_id: MIM:605845
def: "An atopic dermatitis associated with variation in the region 5q31-q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11069631 "DO"]
synonym: "ATOD6" EXACT []
xref: MESH:C565279
is_a: DOID:3310 ! atopic dermatitis

[Term]
id: DOID:0110103
name: atopic dermatitis 7
alt_id: MIM:613064
def: "An atopic dermatitis associated with variation in the region 11q13.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19349984 "DO"]
synonym: "ATOD7" EXACT []
xref: MESH:C567796
is_a: DOID:3310 ! atopic dermatitis

[Term]
id: DOID:0110104
name: atopic dermatitis 8
def: "An atopic dermatitis associated with variation in the region 4q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19517137 "DO"]
synonym: "ATOD8" EXACT []
xref: MIM:613518
is_a: DOID:3310 ! atopic dermatitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0110105
name: atopic dermatitis 9
def: "An atopic dermatitis associated with variation in the region 3p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19517137 "DO"]
synonym: "ATOD9" EXACT []
xref: MIM:613519
is_a: DOID:3310 ! atopic dermatitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0110106
name: atrial heart septal defect 1
alt_id: MIM:108800
alt_id: RDO:0014650
def: "An atrial heart septal defect type 1 associated with variation in the region 5p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9610535 "DO"]
synonym: "ASD1" EXACT []
synonym: "ASD I" NARROW []
synonym: "ASD II" NARROW []
synonym: "atrial septal defect 1" EXACT []
synonym: "Atrial Septal Defect, Primum Type" NARROW []
synonym: "Atrial Septal Defect, Secundum Type" NARROW []
xref: MESH:C566239
xref: RDO:0014649
is_a: DOID:1882 ! atrial heart septal defect

[Term]
id: DOID:0110107
name: atrial heart septal defect 2
alt_id: MIM:607941
alt_id: RDO:0004221
def: "An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12845333 "DO"]
synonym: "ASD2" EXACT []
synonym: "Atrial Septal Defect 2" EXACT []
xref: MESH:C538263
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1882 ! atrial heart septal defect

[Term]
id: DOID:0110108
name: atrial heart septal defect 3
alt_id: MIM:614089
alt_id: RDO:9000137
def: "An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15735645 "DO"]
synonym: "ASD3" EXACT []
synonym: "atrial septal defect 3" EXACT []
xref: MESH:C563540
xref: RDO:0012768
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0110109
name: atrial heart septal defect 4
alt_id: MIM:611363
def: "An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17668378 "DO"]
synonym: "ASD4" EXACT []
synonym: "atrial septal defect 4" EXACT []
synonym: "TBX20-RELATED CONDITION" EXACT []
xref: MESH:C566963
xref: RDO:0015163
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0110110
name: atrial heart septal defect 5
alt_id: MIM:612794
alt_id: RDO:0015609
def: "An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17947298 "DO"]
synonym: "ASD5" EXACT []
synonym: "atrial septal defect 5" EXACT []
xref: MESH:C567561
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1882 ! atrial heart septal defect

[Term]
id: DOID:0110111
name: atrial heart septal defect 6
alt_id: MIM:613087
alt_id: RDO:0012033
def: "An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18830233 "DO"]
synonym: "ASD6" EXACT []
synonym: "atrial septal defect 6" EXACT []
synonym: "TLL1-RELATED CONDITION" EXACT []
xref: MESH:C567764
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1882 ! atrial heart septal defect

[Term]
id: DOID:0110112
name: atrial heart septal defect 7
def: "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9651244 "DO"]
synonym: "ASD7" EXACT []
synonym: "ASD with or without atrioventricular conduction defects" EXACT []
synonym: "ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS" EXACT []
synonym: "atrial septal defect 7, with or without AV conduction defects" EXACT []
synonym: "atrial septal defect-atrioventricular conduction defects syndrome" EXACT []
xref: MIM:108900
xref: ORDO:1479
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050820 ! atrioventricular block
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:9006886 ! Atrial Septal Defect with Atrioventricular Conduction Defects

[Term]
id: DOID:0110113
name: atrial heart septal defect 8
def: "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16287139 "DO"]
synonym: "ASD8" EXACT []
synonym: "atrial septal defect 8" EXACT []
xref: MIM:614433
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1882 ! atrial heart septal defect

[Term]
id: DOID:0110114
name: atrial heart septal defect 9
def: "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20631719 "DO"]
synonym: "ASD9" EXACT []
synonym: "atrial septal defect 9" EXACT []
xref: MIM:614475
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1882 ! atrial heart septal defect

[Term]
id: DOID:0110115
name: autoimmune lymphoproliferative syndrome type 2A
alt_id: MIM:603909
alt_id: RDO:0014370
def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16446975 "DO"]
synonym: "ALPS2" EXACT []
synonym: "ALPS2A" EXACT []
synonym: "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II" EXACT []
synonym: "autoimmune lymphoproliferative syndrome type IIA" EXACT []
xref: MESH:C565833
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome

[Term]
id: DOID:0110116
name: autoimmune lymphoproliferative syndrome type 2B
def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12353035 "DO"]
synonym: "ALPS2B" EXACT []
synonym: "ALPS with recurrent viral infections" EXACT []
synonym: "autoimmune lymphoproliferative syndrome type 2B (ALPS2B)" EXACT []
synonym: "autoimmune lymphoproliferative syndrome, type IIB" EXACT []
synonym: "autoimmune lymphoproliferative syndrome with recurrent viral infections" EXACT []
synonym: "caspase 8 deficiencies" EXACT []
synonym: "caspase 8 deficiency" EXACT []
synonym: "caspase 8 deficiency syndrome" EXACT []
synonym: "caspase eight deficiency state" EXACT []
synonym: "CEDS" EXACT []
xref: MIM:607271
xref: ORDO:275517
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0110117
name: autoimmune lymphoproliferative syndrome type 4
def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24240292/ "DO"]
synonym: "ALPS4" EXACT []
synonym: "ALPS type 4" EXACT []
synonym: "ALPS type IV" EXACT []
synonym: "autoimmune lymphoproliferative syndrome type IV" EXACT []
synonym: "RALD" EXACT []
synonym: "RAS-associated autoimmune leukoproliferative disease" EXACT []
synonym: "RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER" EXACT []
synonym: "RAS-associated autoimmune leukoproliferative disorder, somatic" EXACT []
xref: ICD10CM:D72.8
xref: MIM:614470
xref: ORDO:268114
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome

[Term]
id: DOID:0110118
name: Leber congenital amaurosis 16
def: "A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21763485 "DO"]
synonym: "LCA16" EXACT []
xref: MIM:614186
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110119
name: autoimmune lymphoproliferative syndrome type 3
def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23319571 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23666743 "DO"]
synonym: "ALPS3" EXACT []
synonym: "autoimmune lymphoproliferative syndrome type III" EXACT []
synonym: "common variable immunodeficiency 9" RELATED []
synonym: "CVID9" RELATED []
xref: MIM:615559
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12177 ! common variable immunodeficiency
is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome

[Term]
id: DOID:0110120
name: Axenfeld-Rieger syndrome type 1
def: "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8944018 "DO"]
synonym: "RGS" EXACT []
synonym: "RIEG" EXACT []
synonym: "RIEG1" EXACT []
synonym: "Rieger syndrome type 1" EXACT []
xref: MIM:180500
is_a: DOID:0060321 ! umbilical hernia
is_a: DOID:11722 ! myotonic dystrophy type 1
is_a: DOID:13714 ! anodontia
is_a: DOID:14686 ! Axenfeld-Rieger syndrome
is_a: DOID:3128 ! anus disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9008606 ! Corneal Opacity
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0110121
name: Axenfeld-Rieger syndrome type 2
alt_id: MIM:601499
def: "An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8751862 "DO"]
synonym: "RIEG2" EXACT []
synonym: "Rieger syndrome 2" EXACT []
synonym: "Rieger syndrome type 2" EXACT []
xref: ICD10CM:Q13.8
xref: MESH:C535680
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:13714 ! anodontia
is_a: DOID:14686 ! Axenfeld-Rieger syndrome
is_a: DOID:9002484 ! Maxillary Diseases

[Term]
id: DOID:0110122
name: Axenfeld-Rieger syndrome type 3
def: "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9792859 "DO"]
synonym: "anterior chamber cleavage syndrome" EXACT []
synonym: "anterior segment mesenchymal dysgenesis" EXACT []
synonym: "Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss" EXACT []
synonym: "RIEG3" EXACT []
synonym: "Rieger syndrome type 3" EXACT []
xref: MIM:602482
is_a: DOID:14686 ! Axenfeld-Rieger syndrome

[Term]
id: DOID:0110123
name: Bardet-Biedl syndrome 1
alt_id: MIM:209900
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20177705 "DO"]
synonym: "BARDET-BIEDL SYNDROME 1/10, DIGENIC" BROAD []
synonym: "BARDET-BIEDL SYNDROME 1, MODIFIER OF" RELATED []
synonym: "Bardet-Biedl syndrome type 1" EXACT []
synonym: "BBS1" EXACT []
synonym: "BBS1-RELATED CONDITION" EXACT []
xref: EFO:0009021
xref: GARD:820
xref: MESH:C537909
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110124
name: Bardet-Biedl syndrome 2
alt_id: MIM:615981
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16823392 "DO"]
synonym: "BARDET-BIEDL SYNDROME TYPE 2" EXACT []
synonym: "BBS2" EXACT []
synonym: "BBS2-RELATED CONDITION" BROAD []
synonym: "BBS2-RELATED DISORDER" BROAD []
synonym: "BBS2-RELATED DISORDERS" BROAD []
xref: GARD:821
xref: MESH:C537910
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110125
name: Bardet-Biedl syndrome 3
alt_id: MIM:600151
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15314642 "DO"]
synonym: "BBS3" EXACT []
xref: GARD:822
xref: ICD10CM:Q87.89
xref: MESH:C537911
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110126
name: Bardet-Biedl syndrome 4
alt_id: MIM:615982
alt_id: OMIA:002045
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11381270 "DO"]
synonym: "BBS4" EXACT []
synonym: "BBS4-RELATED CONDITION" EXACT []
xref: EFO:0009024
xref: GARD:823
xref: MESH:C537912
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110127
name: Bardet-Biedl syndrome 5
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15137946 "DO"]
synonym: "BBS5" EXACT []
synonym: "BBS5-RELATED CONDITION" EXACT []
xref: EFO:0009025
xref: GARD:10204
xref: MIM:615983
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110128
name: Bardet-Biedl syndrome 6
alt_id: MIM:605231
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10973238 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10973251 "DO"]
synonym: "BBS6" EXACT []
synonym: "MKKS-RELATED CONDITION" BROAD []
xref: GARD:10205
xref: MESH:C565738
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110129
name: Bardet-Biedl syndrome 7
alt_id: MIM:615984
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12567324 "DO"]
synonym: "BBS7" EXACT []
synonym: "BBS7-RELATED CONDITION" EXACT []
xref: EFO:0009026
xref: GARD:10206
xref: MESH:C565916
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110130
name: Bardet-Biedl syndrome 8
alt_id: MIM:615985
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14520415 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16308660 "DO"]
synonym: "BBS8" EXACT []
synonym: "TTC8-RELATED CONDITION" BROAD []
xref: GARD:10207
xref: MESH:C565917
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110131
name: Bardet-Biedl syndrome 9
alt_id: MIM:615986
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16380913 "DO"]
synonym: "BBS9" EXACT []
synonym: "BBS9-RELATED CONDITION" EXACT []
synonym: "RETINAL VASCULAR DYSTROPHY" NARROW []
xref: EFO:0009027
xref: GARD:10208
xref: MESH:C565918
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110132
name: Bardet-Biedl syndrome 10
alt_id: MIM:615987
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16582908 "DO"]
synonym: "BARDET-BIEDL SYNDROME 1/10, DIGENIC" BROAD []
synonym: "BARDET-BIEDL SYNDROME TYPE 10" EXACT []
synonym: "BBS10" EXACT []
synonym: "BBS10-RELATED CONDITION" EXACT []
xref: EFO:0009022
xref: GARD:10209
xref: MESH:C565919
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110133
name: Bardet-Biedl syndrome 11
alt_id: MIM:615988
def: "A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16606853 "DO"]
synonym: "BBS11" EXACT []
synonym: "TRIM32-RELATED CONDITION" BROAD []
xref: GARD:10210
xref: MESH:C565920
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110134
name: Bardet-Biedl syndrome 12
alt_id: MIM:615989
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17160889 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19797195 "DO"]
synonym: "BARDET-BIEDL SYNDROME TYPE 12" EXACT []
synonym: "BBS12" EXACT []
synonym: "BBS12-RELATED CONDITION" EXACT []
xref: EFO:0009023
xref: GARD:10211
xref: MESH:C565921
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110135
name: Bardet-Biedl syndrome 13
alt_id: MIM:615990
def: "A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18327255 "DO"]
synonym: "BBS13" EXACT []
xref: MESH:C567140
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110136
name: Bardet-Biedl syndrome 14
alt_id: MIM:615991
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18327255 "DO"]
synonym: "BARDET-BIEDL SYNDROME 14, MODIFIER OF" RELATED []
synonym: "BBS14" EXACT []
xref: MESH:C567141
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110137
name: Bardet-Biedl syndrome 15
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20671153 "DO"]
synonym: "BBS15" EXACT []
synonym: "WDPCP-RELATED CONDITION" BROAD []
xref: MIM:615992
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110138
name: Bardet-Biedl syndrome 16
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20835237 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22626039 "DO"]
synonym: "Bardet-Biedel syndrome 16" RELATED []
synonym: "BBS16" EXACT []
synonym: "SDCCAG8-RELATED CONDITION" BROAD []
xref: MIM:615993
xref: MONDO:0014444
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110139
name: Bardet-Biedl syndrome 17
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22510444 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23692385 "DO"]
synonym: "BBS17" EXACT []
synonym: "LZTFL1-RELATED CONDITION" EXACT []
xref: MIM:615994
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110140
name: Bardet-Biedl syndrome 18
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24026985 "DO"]
synonym: "BBIP1-RELATED CONDITION" NARROW []
synonym: "BBS18" EXACT []
xref: MIM:615995
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110141
name: Bardet-Biedl syndrome 19
def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24488770 "DO"]
synonym: "BBS19" EXACT []
synonym: "IFT27-RELATED CONDITION" EXACT []
xref: MIM:615996
is_a: DOID:1935 ! Bardet-Biedl syndrome

[Term]
id: DOID:0110142
name: Bartter disease type 1
alt_id: MIM:601678
def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9355073 "DO"]
synonym: "BARTS1" EXACT []
synonym: "Bartter syndrome type 1" EXACT []
synonym: "Bartter syndrome type 1 antenatal" EXACT []
synonym: "Hyperprostaglandin E syndrome 1" EXACT []
synonym: "HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL" EXACT []
synonym: "Hypokalemic alkalosis with hypercalciuria, antenatal" EXACT []
synonym: "SLC12A1-RELATED CONDITION" EXACT []
xref: MESH:C537652
xref: NCI:C178412
is_a: DOID:445 ! Bartter disease

[Term]
id: DOID:0110143
name: Bartter disease type 2
alt_id: MIM:241200
def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9326936 "DO"]
synonym: "BARTS2" EXACT []
synonym: "Bartter syndrome type 2" EXACT []
synonym: "Bartter syndrome type 2 antenatal" EXACT []
synonym: "Hyperprostaglandin E syndrome 2" EXACT []
synonym: "HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL" EXACT []
xref: ICD10CM:E26.8
xref: MESH:C537651
is_a: DOID:445 ! Bartter disease

[Term]
id: DOID:0110144
name: Bartter disease type 3
alt_id: MIM:607364
def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9326936 "DO"]
synonym: "BARTS3" EXACT []
synonym: "Bartter syndrome, classic" EXACT []
synonym: "Bartter Syndrome, Type 3" EXACT []
xref: GARD:9659
xref: MESH:C537653
is_a: DOID:445 ! Bartter disease

[Term]
id: DOID:0110145
name: Bartter disease type 4A
alt_id: MIM:602522
def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11687798 "DO"]
synonym: "BARTS4A" EXACT []
synonym: "BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS" NARROW []
synonym: "Bartter syndrome type 4A" EXACT []
synonym: "BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS" EXACT []
synonym: "BSND" EXACT []
synonym: "BSND  SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION" NARROW []
xref: MESH:C566530
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:445 ! Bartter disease

[Term]
id: DOID:0110146
name: Bartter disease type 4b
alt_id: MIM:613090
def: "A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15044642 "DO"]
synonym: "BARTS4B" EXACT []
synonym: "Bartter Syndrome, Infantile, with Sensorineural Deafness" EXACT []
synonym: "Bartter Syndrome, Type 4B" EXACT []
synonym: "Bartter syndrome, type 4b, digenic" EXACT []
synonym: "BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS" EXACT []
xref: MESH:C567762
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:445 ! Bartter disease

[Term]
id: DOID:0110147
name: Bartter disease type 5
def: "A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27120771 "DO"]
synonym: "BARTS5" EXACT []
synonym: "Bartter syndrome, type 5, antenatal, transient" EXACT []
synonym: "transient antenatal Bartter syndrome-5" EXACT []
xref: MIM:300971
is_a: DOID:445 ! Bartter disease

[Term]
id: DOID:0110148
name: Charcot-Marie-Tooth disease type 1A
def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1677316 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21326314 "DO"]
synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A" EXACT []
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1A" EXACT []
synonym: "Charcot-Marie-Tooth disease, type 1A, with focally folded myelin sheaths" EXACT []
synonym: "Charcot Marie Tooth disease, type IA" EXACT []
synonym: "Charcot Marie Tooth neuropathy, type 1A" EXACT []
synonym: "CMT1A" EXACT []
synonym: "hereditary motor and sensory neuropathy 1A" EXACT []
synonym: "hereditary motor and sensory neuropathy IA" EXACT []
synonym: "HMSN 1A" EXACT []
synonym: "HMSN1A" EXACT []
synonym: "HMSN IA" EXACT []
synonym: "microduplication 17p12" EXACT []
xref: GARD:1245
xref: MIM:118220
xref: MONDO:0007309
xref: NCI:C75468
xref: ORDO:101081
is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1
is_a: DOID:0050736 ! autosomal dominant disease
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:0110149
name: Charcot-Marie-Tooth disease type 1F
alt_id: MIM:607734
alt_id: RDO:0003916
def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12566280 "DO"]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1F" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 1F" EXACT []
synonym: "CMT 1F" EXACT []
synonym: "CMT1f" EXACT []
xref: MESH:C537987
xref: ORDO:101085
is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110150
name: Charcot-Marie-Tooth disease type 1D
def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9537424 "DO"]
synonym: "Charcot-Marie-Tooth disease, demyelinating, Type 1D" EXACT []
synonym: "Charcot-Marie-Tooth Neuropathy, Type 1D" EXACT []
synonym: "CMT1D" EXACT []
synonym: "hereditary motor and sensory neuropathy 1D" EXACT []
synonym: "HMSN 1D" EXACT []
synonym: "HMSN1D" EXACT []
synonym: "HMSN ID" EXACT []
synonym: "HMSNID" EXACT []
xref: MESH:C537985
xref: MIM:607678
xref: MONDO:0011890
xref: ORDO:101084
is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110151
name: Charcot-Marie-Tooth disease type 1C
alt_id: MIM:601098
def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12525712 "DO"]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1C" EXACT []
synonym: "CHARCOT-MARIE-TOOTH DISEASE, TYPE IC" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 1C" EXACT []
synonym: "CMT1C" EXACT []
synonym: "CMT, slow nerve conduction type C" EXACT []
synonym: "hereditary motor and sensory neuropathy type 1C" EXACT []
synonym: "hereditary motor and sensory neuropathy type IC" EXACT []
synonym: "HMSN1C" EXACT []
synonym: "HMSN IC" EXACT []
synonym: "HMSNIC" EXACT []
xref: MESH:C537984
xref: ORDO:101083
is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110152
name: Charcot-Marie-Tooth disease type 1B
def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7693129 "DO"]
synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B" EXACT []
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1B" EXACT []
synonym: "Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy" EXACT []
synonym: "Charcot-Marie-Tooth disease, type 1B, with focally folded myelin sheaths" EXACT []
synonym: "Charcot-Marie-Tooth disease, type IB" EXACT []
synonym: "Charcot Marie Tooth neuropathy, type 1B" EXACT []
synonym: "CMT1B" EXACT []
synonym: "hereditary motor and sensory neuropathy IB" EXACT []
synonym: "HMSN 1B" EXACT []
synonym: "HMSN1B" EXACT []
synonym: "HMSN IB" EXACT []
xref: MIM:118200
xref: NCI:C118782
xref: ORDO:101082
is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1
is_a: DOID:0050736 ! autosomal dominant disease
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:0110153
name: Charcot-Marie-Tooth disease type 1E
alt_id: MESH:C538078
alt_id: MESH:C566136
alt_id: MIM:118300
alt_id: MIM:214370
def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10330345 "DO"]
synonym: "Charcot-Marie-Tooth disease and deafness" EXACT []
synonym: "Charcot-Marie-Tooth disease-deafness" EXACT []
synonym: "Charcot-Marie-Tooth disease, demyelinating type 1E" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant" EXACT []
synonym: "CMT1E" EXACT []
synonym: "deafness with Charcot-Marie-Tooth disease" EXACT []
synonym: "hereditary motor and sensory neuropathy with deafness, mental retardation, and absent sensory large myelinated fibers" EXACT []
xref: GARD:9190
xref: MESH:C537986
xref: ORDO:90658
is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10003 ! sensorineural hearing loss

[Term]
id: DOID:0110154
name: Charcot-Marie-Tooth disease type 2A1
alt_id: MIM:118210
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11389829 "DO"]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1" EXACT []
synonym: "Charcot-Marie-Tooth disease, axonal, type 2A1" EXACT []
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A1" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy type 2A1" EXACT []
synonym: "CMT2A1" EXACT []
synonym: "hereditary motor and sensory neuropathy IIA1" EXACT []
synonym: "HMSN2A1" EXACT []
synonym: "HMSN IIA1" EXACT []
xref: MESH:C566138
xref: ORDO:99946
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9008563 ! Charcot-Marie-Tooth Disease, Type 2A

[Term]
id: DOID:0110155
name: Charcot-Marie-Tooth disease type 2A2A
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15064763 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19889647 "DO"]
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2" EXACT []
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease, type 2A2A" EXACT []
synonym: "CMT2A2A" EXACT []
xref: MIM:609260
xref: NCI:C150646
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9004551 ! Charcot-Marie-Tooth Disease Type 2A2

[Term]
id: DOID:0110156
name: Charcot-Marie-Tooth disease type 2B1
alt_id: MIM:605588
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11799477 "DO"]
synonym: "autosomal recessive axonal CMT4C1" EXACT []
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B1" EXACT []
synonym: "Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1" EXACT []
synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B1" EXACT []
synonym: "Charcot-Marie-Tooth disease, axonal, Type 2B1" EXACT []
synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2B1" EXACT []
synonym: "Charcot-Marie-Tooth Neuropathy, Type 2b1" EXACT []
synonym: "CMT2B1" EXACT []
xref: ICD10CM:G60.0
xref: MESH:C537990
xref: ORDO:98856
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9006138 ! Laminopathies

[Term]
id: DOID:0110157
name: Charcot-Marie-Tooth disease type 2J
alt_id: MIM:607736
def: "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10071056 "DO"]
synonym: "axonal Charcot-Marie-Tooth disease type 2J" EXACT []
synonym: "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy type 2J" EXACT []
synonym: "CMT 2J" EXACT []
synonym: "CMT2J" EXACT []
xref: MESH:C535417
xref: ORDO:99943
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10003 ! sensorineural hearing loss

[Term]
id: DOID:0110158
name: Charcot-Marie-Tooth disease type 2I
alt_id: MIM:607677
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10071056 "DO"]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2I" EXACT []
synonym: "Charcot-Marie-Tooth disease, axonal, type 2I" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2I" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 2I" EXACT []
synonym: "CMT 2I" EXACT []
synonym: "CMT2I" EXACT []
xref: MESH:C535416
xref: ORDO:99942
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110159
name: Charcot-Marie-Tooth disease type 2B
alt_id: MIM:600882
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12545426 "DO"]
synonym: "Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2B" EXACT []
synonym: "Charcot-Marie-Tooth disease, axonal, Type 2B" EXACT []
synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2B" EXACT []
synonym: "Charcot-Marie-Tooth Neuropathy, Type 2B" EXACT []
synonym: "CMT 2B" EXACT []
synonym: "CMT2B" EXACT []
synonym: "Hereditary motor and sensory neuropathy 2 B (HMSN 2 B)" EXACT []
synonym: "Hereditary Motor And Sensory Neuropathy IIB" EXACT []
synonym: "hereditary motor and sensory nueropathy IIB" EXACT []
synonym: "HEREDITARY SODIUM CHANNELOPATHY-RELATED SMALL FIBERS NEUROPATHY" BROAD []
synonym: "HMSN2B" EXACT []
synonym: "HMSN IIB" EXACT []
synonym: "Peripheral sensory neuropathy, autosomal dominant (PSN)" EXACT []
xref: GARD:9192
xref: MESH:C537989
xref: ORDO:99936
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110160
name: Charcot-Marie-Tooth disease axonal type 2T
alt_id: RDO:9000420
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26991897 "DO"]
synonym: "AR-CMT2T" EXACT []
synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2T" EXACT []
synonym: "CHARCOT-MARIE-TOOTH DISEASE TYPE 2T" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2T" EXACT []
synonym: "CMT2T" EXACT []
synonym: "MME-RELATED AUTOSOMAL DOMINANT CHARCOT MARIE TOOTH DISEASE TYPE 2" EXACT []
synonym: "MME-RELATED CONDITION" BROAD []
xref: EFO:0009162
xref: MIM:617017
xref: ORDO:443950
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110161
name: Charcot-Marie-Tooth disease type 2R
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23562820 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25893792 "DO"]
synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R" EXACT []
synonym: "Charcot-Marie-Tooth Disease, Axonal, Type 2R" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2R" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R" EXACT []
synonym: "CMT2R" EXACT []
xref: MIM:615490
xref: ORDO:397968
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110162
name: Charcot-Marie-Tooth disease, axonal type 2W
alt_id: RDO:9001390
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22930593 "DO"]
synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2W" EXACT []
synonym: "Charcot-Marie-Tooth disease type 2W" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W" EXACT []
synonym: "CMT2W" EXACT []
xref: MIM:616625
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110163
name: Charcot-Marie-Tooth disease axonal type 2F
alt_id: MIM:606595
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15122254 "DO"]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2F" EXACT []
synonym: "Charcot-Marie-Tooth disease, neuronal, type 2F" EXACT []
synonym: "Charcot-Marie-Tooth disease type 2F" EXACT []
synonym: "Charcot-Marie-Tooth neuronal type 2F" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 2F" EXACT []
synonym: "CMT 2F" EXACT []
synonym: "CMT2F" EXACT []
synonym: "HSPB1-related disorder" BROAD []
xref: MESH:C535413
xref: ORDO:99940
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110164
name: Charcot-Marie-Tooth disease type 2D
alt_id: MIM:601472
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12690580 "DO"]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2D" EXACT []
synonym: "Charcot-Marie-Tooth disease, axonal, Type 2D" EXACT []
synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2D" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 2D" EXACT []
synonym: "CMT2D" EXACT []
xref: MESH:C537993
xref: MONDO:0011091
xref: NCI:C122659
xref: ORDO:99938
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110165
name: Charcot-Marie-Tooth disease type 2E
alt_id: MIM:607684
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10841809 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17620486 "DO"]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2E" EXACT []
synonym: "Charcot-Marie-Tooth disease, axonal, Type 2E" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy type 2E" EXACT []
synonym: "CMT 2E" EXACT []
synonym: "CMT2E" EXACT []
xref: MESH:C537994
xref: NCI:C134953
xref: ORDO:99939
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110166
name: Charcot-Marie-Tooth disease axonal type 2H
alt_id: MIM:607731
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11166163 "DO"]
synonym: "AR-CMT2C" EXACT []
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features" EXACT []
synonym: "autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features" EXACT []
synonym: "autosomal recessive axonal CMT4C2" EXACT []
synonym: "axonal Charcot-Marie-Tooth disease with pyramidal involvement" EXACT []
synonym: "Charcot-Marie-Tooth disease type 2H" EXACT []
synonym: "CMT2H" EXACT []
xref: MESH:C535415
xref: ORDO:101102
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110167
name: Charcot-Marie-Tooth disease axonal type 2K
alt_id: MIM:607831
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12707075 "DO"]
synonym: "ARCMT2K" EXACT []
synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K" EXACT []
synonym: "autosomal recessive axonal CMT4C4" EXACT []
synonym: "autosomal recessive Charcot-Marie-Tooth disease with hoarseness" EXACT []
synonym: "Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2K" EXACT []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K" EXACT []
synonym: "Charcot-Marie-Tooth disease type 2K" EXACT []
synonym: "Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k" EXACT []
synonym: "CMT 2K" EXACT []
synonym: "Cmt2k" EXACT []
xref: MESH:C535418
xref: MESH:C564325
xref: NCI:C133886
xref: ORDO:101097
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110168
name: Charcot-Marie-Tooth disease type 2Y
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25125609 "DO"]
synonym: "autosomal dominant axonal Charcot-Marie-Tooth type 2Y" EXACT []
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation" EXACT []
synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Y" EXACT []
synonym: "Charcot-Marie-Tooth Disease, Axonal, Type 2Y" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Y" EXACT []
synonym: "CMT2 due to VCP mutation" EXACT []
synonym: "CMT2Y" EXACT []
xref: MIM:616687
xref: NCI:C168974
xref: ORDO:435387
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110169
name: Charcot-Marie-Tooth disease axonal type 2P
alt_id: RDO:0000515
alt_id: RDO:9000224
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20865121 "DO"]
synonym: "Charcot-Marie-Tooth disease, type 2G" EXACT []
synonym: "Charcot-Marie-Tooth disease, type 2P" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 2G" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 2P" EXACT []
synonym: "CMT 2G" EXACT []
synonym: "CMT2G" EXACT []
synonym: "CMT2P" EXACT []
xref: GARD:12435
xref: MIM:614436
xref: ORDO:300319
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110170
name: Charcot-Marie-Tooth disease axonal type 2Q
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23141294 "DO"]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Q" EXACT []
synonym: "axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2Q" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 2Q" EXACT []
synonym: "CMT2Q" EXACT []
synonym: "DHTKD1-RELATED CONDITION" BROAD []
xref: MIM:615025
xref: ORDO:329258
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110171
name: Charcot-Marie-Tooth disease axonal type 2S
alt_id: RDO:9001125
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25439726 "DO"]
synonym: "autosomal recessive axonal Charcot-Marie-Tooth type 2S" EXACT []
synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S" EXACT []
synonym: "Charcot-Marie-Tooth disease type 2S" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S" EXACT []
synonym: "CMT2S" EXACT []
xref: MIM:616155
xref: ORDO:443073
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110173
name: Charcot-Marie-Tooth disease axonal type 2U
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23729695 "DO"]
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U" EXACT []
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2U" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2U" EXACT []
synonym: "CMT2U" EXACT []
xref: MIM:616280
xref: ORDO:397735
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110174
name: Charcot-Marie-Tooth disease axonal type 2L
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15565283 "DO"]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2L" EXACT []
synonym: "axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2L" EXACT []
synonym: "axonal Charcot-Marie-Tooth neuropathy, type 2L" EXACT []
synonym: "Charcot-Marie-Tooth disease, type 2L" EXACT []
synonym: "CMT2L" EXACT []
xref: MIM:608673
xref: MONDO:0012096
xref: ORDO:99945
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110175
name: Charcot-Marie-Tooth disease axonal type 2O
alt_id: RDO:9000222
alt_id: RDO:9002957
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21820100 "DO"]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2O" EXACT []
synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O" EXACT []
synonym: "CMT2O" EXACT []
xref: MIM:614228
xref: ORDO:284232
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110176
name: Charcot-Marie-Tooth disease axonal type 2X
alt_id: RDO:9000409
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26556829 "DO"]
synonym: "Autosomal recessive Charcot Marie Tooth disease type 2X" EXACT []
synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X" EXACT []
synonym: "CMT2X" EXACT []
xref: EFO:1001983
xref: MIM:616668
xref: ORDO:466775
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110177
name: Charcot-Marie-Tooth disease axonal type 2N
alt_id: MIM:613287
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20045102 "DO"]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2N" EXACT []
synonym: "axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2N" EXACT []
synonym: "axonal Charcot-Marie-Tooth neuropathy, type 2N" EXACT []
synonym: "CMT2N" EXACT []
xref: MESH:C567653
xref: ORDO:228174
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110178
name: Charcot-Marie-Tooth disease axonal type 2V
alt_id: RDO:9001389
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25818867 "DO"]
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2V" EXACT []
synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V" EXACT []
synonym: "Charcot-Marie-Tooth disease type 2V" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2" BROAD []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V" EXACT []
synonym: "CMT2V" EXACT []
xref: MIM:616491
xref: ORDO:447964
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110179
name: Charcot-Marie-Tooth disease type 2B2
alt_id: MIM:605589
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19290556 "DO"]
synonym: "ARCMT2B" EXACT []
synonym: "AR-CMT2B2" EXACT []
synonym: "Autosomal recessive axonal CMT4C3" EXACT []
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2" EXACT []
synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B2" EXACT []
synonym: "Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type B2" EXACT []
synonym: "Charcot-Marie-Tooth disease, axonal, Type 2B2" EXACT []
synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2B2" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 2B2" EXACT []
synonym: "CMT 2B2" EXACT []
synonym: "CMT2B2" EXACT []
xref: MESH:C537991
xref: ORDO:101101
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110180
name: Charcot-Marie-Tooth disease axonal type 2CC
alt_id: RDO:9000361
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27040688 "DO"]
synonym: "Charcot-Marie-Tooth neuropathy, type 2CC" EXACT []
synonym: "CMT2CC" EXACT []
synonym: "NEFH-RELATED CONDITION" BROAD []
xref: MIM:616924
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110181
name: Charcot-Marie-Tooth disease axonal type 2Z
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26497905 "DO"]
synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z" EXACT []
synonym: "CMT2Z" EXACT []
synonym: "MORC2-RELATED NEURODEVELOPMENTAL DISORDER" BROAD []
xref: MIM:616688
xref: ORDO:466768
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110182
name: Charcot-Marie-Tooth disease axonal type 2C
alt_id: MIM:606071
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20037588 "DO"]
synonym: "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C" EXACT []
synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease, type 2C" EXACT []
synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2C" EXACT []
synonym: "Charcot-Marie-Tooth disease type 2C" EXACT []
synonym: "Charcot-Marie-Tooth Neuropathy, Type 2C" EXACT []
synonym: "CMT2C" EXACT []
synonym: "Hereditary motor and sensory neuropathy 2 C" EXACT []
synonym: "Hereditary Motor and Sensory Neuropathy, Type IIC" EXACT []
synonym: "HMSN2C" EXACT []
synonym: "HMSN IIC" EXACT []
xref: MESH:C537992
xref: MESH:C565261
xref: ORDO:99937
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110183
name: Charcot-Marie-Tooth disease type 4C
alt_id: MIM:601596
alt_id: RDO:0000525
def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14574644 "DO"]
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4c" EXACT []
synonym: "Charcot-Marie-Tooth Neuropathy, Type 4c" EXACT []
synonym: "CMT 4C" EXACT []
synonym: "CMT4C" EXACT []
synonym: "SH3TC2-RELATED DISORDER" BROAD []
xref: MESH:C535423
xref: NCI:C129864
xref: ORDO:99949
is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110184
name: Charcot-Marie-Tooth disease type 4J
alt_id: MIM:611228
def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17572665 "DO"]
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4J" EXACT []
synonym: "CMT4J" EXACT []
xref: MESH:C566984
xref: NCI:C134954
xref: ORDO:139515
is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110185
name: Charcot-Marie-Tooth disease type 4A
alt_id: MIM:214400
alt_id: RDO:0000520
def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11743579 "DO"]
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive" EXACT []
synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy type 4A" EXACT []
synonym: "CMT4A" EXACT []
xref: MESH:C535419
xref: ORDO:99948
is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110186
name: Charcot-Marie-Tooth disease type 4D
alt_id: MIM:601455
alt_id: OMIA:002120
def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10831399 "DO"]
synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 4D" EXACT []
synonym: "CMT4D" EXACT []
synonym: "hereditary motor and sensory neuropathy, LOM type" EXACT []
synonym: "HMSN4D" EXACT []
synonym: "HMSNL" EXACT []
synonym: "HMSN-LOM" EXACT []
synonym: "HMSN LOM type" EXACT []
synonym: "polyneuropathy,  NDRG1-related" RELATED []
xref: MESH:C535716
xref: ORDO:99950
is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10582 ! Refsum disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0110187
name: Charcot-Marie-Tooth disease type 4K
def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24027061 "DO"]
synonym: "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K" EXACT []
synonym: "CMT4K" EXACT []
synonym: "SURF1-related Charcot-Marie-Tooth disease type 4" EXACT []
synonym: "SURF1-related CMT4" EXACT []
synonym: "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" EXACT []
xref: MIM:616684
xref: ORDO:391351
is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110188
name: Leber congenital amaurosis 14
alt_id: MIM:613341
def: "A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17011878 "DO"]
synonym: "early-onset severe retinal dystrophy, LRAT-related" NARROW []
synonym: "juvenile retinitis pigmentosa, LRAT-related" NARROW []
synonym: "LCA14" EXACT []
synonym: "LRAT-RELATED CONDITION" EXACT []
xref: MESH:C567636
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110189
name: Leber congenital amaurosis 15
def: "A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15024725 "DO"]
synonym: "juvenile retinitis pigmentosa, TULP1-related" NARROW []
synonym: "LCA15" EXACT []
xref: MIM:613843
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110190
name: Charcot-Marie-Tooth disease type 4B2
alt_id: MESH:C535422
alt_id: MESH:C565761
alt_id: MIM:604563
def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12554688 "DO"]
synonym: "Charcot-Marie-Tooth Disease Type 4B2, with Early-Onset Glaucoma" EXACT []
synonym: "Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B2" EXACT []
synonym: "Charcot-Marie-Tooth Neuropathy, Type 4B2" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA" EXACT []
synonym: "CMT4B2" EXACT []
xref: GARD:9200
xref: MESH:C535421
xref: ORDO:99956
is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9007741 ! Early-Onset Glaucoma

[Term]
id: DOID:0110191
name: Charcot-Marie-Tooth disease type 4B1
alt_id: MIM:601382
alt_id: RDO:0000521
def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10802647 "DO"]
synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1" EXACT []
synonym: "Charcot-Marie-Tooth disease, type 4B" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 4B1" EXACT []
synonym: "CMT4B" EXACT []
synonym: "CMT4B1" EXACT []
xref: MESH:C535420
xref: ORDO:99955
is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110192
name: Charcot-Marie-Tooth disease type 4H
alt_id: MIM:609311
def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15744041 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17564959 "DO"]
synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4H" EXACT []
synonym: "Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4H" EXACT []
synonym: "Charcot-Marie-Tooth Neuropathy, Type 4H" EXACT []
synonym: "CMT4H" EXACT []
xref: MESH:C563740
xref: ORDO:99954
is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110193
name: Charcot-Marie-Tooth disease type 4F
alt_id: RDO:9000225
def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11157804 "DO"]
synonym: "Charcot-Marie-Tooth disease type 4F, demyelinating" EXACT []
synonym: "CMT4F" EXACT []
synonym: "PRX-RELATED CONDITION" BROAD []
xref: MIM:614895
xref: ORDO:99952
is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110194
name: Charcot-Marie-Tooth disease type 4B3
def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23749797 "DO"]
synonym: "CMT4B3" EXACT []
synonym: "SBF1-RELATED CONDITION" EXACT []
xref: MIM:615284
xref: NCI:C190871
xref: ORDO:363981
is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110195
name: Charcot-Marie-Tooth disease type 4E
alt_id: MIM:605253
def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15184631 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9537424 "DO"]
synonym: "Charcot-Marie-Tooth Neuropathy, Type 4e" EXACT []
synonym: "CHN" EXACT []
synonym: "CMT4E" EXACT []
synonym: "congenital hypomyelinating neuropathy" BROAD []
synonym: "congenital hypomyelinating neuropathy (CHN)" BROAD []
synonym: "congenital hypomyelinating neuropathy 1" EXACT []
synonym: "congenital hypomyelinating neuropathy, autosomal dominant" NARROW []
synonym: "Hypomyelination, severe congenital" EXACT []
synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE" EXACT []
xref: MESH:C535301
xref: ORDO:99951
is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9001527 ! Congenital Hypomyelinating Neuropathy

[Term]
id: DOID:0110196
name: Charcot-Marie-Tooth disease type 4G
alt_id: MIM:605285
def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19536174 "DO"]
synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4g" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy type 4G" EXACT []
synonym: "Cmt4g" EXACT []
synonym: "hereditary motor and sensory neuropathy Russe type" EXACT []
synonym: "HMSNR" EXACT []
xref: MESH:C535813
xref: ORDO:99953
is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110197
name: Charcot-Marie-Tooth disease dominant intermediate B
alt_id: MIM:606482
def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15731758 "DO"]
synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M" NARROW []
synonym: "Charcot-Marie-Tooth Disease, Axonal, Type 2m" EXACT []
synonym: "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA" NARROW []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M" NARROW []
synonym: "Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA" NARROW []
synonym: "CMT2M" NARROW []
synonym: "CMTDI1" EXACT []
synonym: "CMTDI1  CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M" NARROW []
synonym: "CMTDIB" EXACT []
synonym: "DI-CMTB" EXACT []
synonym: "DNM2-related intermediate Charcot-Marie-Tooth neuropathy" EXACT []
xref: MESH:C564703
xref: ORDO:100044
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110198
name: Charcot-Marie-Tooth disease recessive intermediate C
def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23777631 "DO"]
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type C" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C" EXACT []
synonym: "CMTRIC" EXACT []
synonym: "PLEKHG5-RELATED CONDITION" BROAD []
synonym: "RI-CMTC" EXACT []
synonym: "RI-CMT type C" EXACT []
xref: MIM:615376
xref: ORDO:369867
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110199
name: Charcot-Marie-Tooth disease dominant intermediate C
alt_id: MIM:608323
def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16429158 "DO"]
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, dominant intermediate C" EXACT []
synonym: "CMTDIC" EXACT []
synonym: "DI-CMTC" EXACT []
xref: MESH:C564257
xref: ORDO:100045
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110200
name: Charcot-Marie-Tooth disease dominant intermediate D
def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10406984 "DO"]
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type D" EXACT []
synonym: "Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D" EXACT []
synonym: "CMTDID" EXACT []
synonym: "DI-CMTD" EXACT []
xref: MESH:C564333
xref: MIM:607791
xref: MONDO:0011909
xref: ORDO:100046
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110201
name: Charcot-Marie-Tooth disease recessive intermediate A
alt_id: MIM:608340
def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12499475 "DO"]
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type A" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, recessive intermediate A" EXACT []
synonym: "CMTRIA" EXACT []
synonym: "RI-CMTA" EXACT []
xref: MESH:C564256
xref: ORDO:217055
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110202
name: Charcot-Marie-Tooth disease dominant intermediate A
alt_id: MIM:606483
alt_id: MIM:620378
def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11533914 "DO"]
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type A" EXACT []
synonym: "axonal Charcot-Marie-Tooth disease, type 2GG" EXACT []
synonym: "Charcot-Marie-Tooth Neuropathy, Dominant Intermediate A" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 2GG" EXACT []
synonym: "CMT2GG" EXACT []
synonym: "CMTDIA" EXACT []
synonym: "DI-CMTA" EXACT []
xref: MESH:C564702
xref: MONDO:0011675
xref: ORDO:100043
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110203
name: Charcot-Marie-Tooth disease recessive intermediate D
def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25152455 "DO"]
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease D" EXACT []
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type D" EXACT []
synonym: "CMTRID" EXACT []
synonym: "RI-CMT type D" EXACT []
xref: MIM:616039
xref: ORDO:435998
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110204
name: Charcot-Marie-Tooth disease recessive intermediate B
def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20920668 "DO"]
synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type B" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate B" EXACT []
synonym: "CMTRIB" EXACT []
synonym: "RI-CMTB" EXACT []
xref: MIM:613641
xref: ORDO:254334
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110205
name: Charcot-Marie-Tooth disease dominant intermediate E
def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22187985 "DO"]
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type E" EXACT []
synonym: "Charcot-Marie-Tooth disease-nephropathy syndrome" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS" EXACT []
synonym: "CMTDIE" EXACT []
synonym: "INF2-RELATED CONDITION" BROAD []
xref: MIM:614455
xref: ORDO:93114
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110206
name: Charcot-Marie-Tooth disease dominant intermediate F
def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23434117 "DO"]
synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type F" EXACT []
synonym: "CMTDIF" EXACT []
xref: MIM:615185
xref: ORDO:352670
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110207
name: Charcot-Marie-Tooth disease X-linked dominant 6
def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23297365 "DO"]
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6" EXACT []
synonym: "CMT6X" EXACT []
synonym: "CMTX6" EXACT []
synonym: "X-linked Charcot-Marie-Tooth disease type 6" EXACT []
xref: MIM:300905
xref: ORDO:352675
is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X
is_a: DOID:0080009 ! X-linked dominant disease

[Term]
id: DOID:0110208
name: Charcot-Marie-Tooth disease X-linked recessive 2
alt_id: MIM:302801
def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1557086 "DO"]
synonym: "Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2" EXACT []
synonym: "CMTX2" EXACT []
synonym: "X-linked Charcot-Marie-Tooth disease type 2" EXACT []
xref: MESH:C535302
xref: ORDO:101076
is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0110209
name: Charcot-Marie-Tooth disease X-linked dominant 1
alt_id: MIM:302800
def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8266101 "DO"]
synonym: "Charcot-Marie-Tooth Disease, X-Linked, 1" EXACT []
synonym: "Charcot-Marie-Tooth Neuropathy, X-Linked, 1" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy X-linked dominant 1" EXACT []
synonym: "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked" EXACT []
synonym: "CMT1X" EXACT []
synonym: "CMT2" EXACT []
synonym: "CMTX" EXACT []
synonym: "CMTX 1" EXACT []
synonym: "Cmtx1" EXACT []
synonym: "GJB1-RELATED CONDITION" EXACT []
synonym: "GJB1-RELATED DISORDER" EXACT []
synonym: "Hereditary motor and sensory neuropathy, X-linked" EXACT []
synonym: "HMSN, X-linked" EXACT []
synonym: "X-linked Charcot-Marie-Tooth disease type 1" EXACT []
xref: MESH:C535919
xref: ORDO:101075
is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X
is_a: DOID:0080009 ! X-linked dominant disease

[Term]
id: DOID:0110210
name: Charcot-Marie-Tooth disease X-linked recessive 5
alt_id: MIM:311070
def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15955956 "DO"]
synonym: "CMT5X" EXACT []
synonym: "CMTX5" EXACT []
synonym: "Familial opticoacoustic nerve degeneration and polyneuropathy" EXACT []
synonym: "Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive" EXACT []
synonym: "Optic atrophy, neural deafness, and distal neurogenic amyotrophy" EXACT []
synonym: "Optic atrophy, polyneuropathy, and deafness" EXACT []
synonym: "Optic Atrophy Polyneuropathy Deafness" EXACT []
synonym: "optic atrophy, sensorineural hearing loss and polyneuropathy" EXACT []
synonym: "Rosenberg Chutorian syndrome" EXACT []
synonym: "X-linked Charcot-Marie-Tooth disease type 5" EXACT []
synonym: "X-linked recessive Charcot-Marie-Tooth neuropathy 5" EXACT []
xref: MESH:C537129
xref: ORDO:99014
is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X
is_a: DOID:0060140 ! cortical deafness
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies
is_a: DOID:913 ! atrophic muscular disease

[Term]
id: DOID:0110211
name: Charcot-Marie-Tooth disease X-linked recessive 3
alt_id: MIM:302802
alt_id: RDO:0000340
def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1557086 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1674639 "DO"]
synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive 3" EXACT []
synonym: "CMT3X" EXACT []
synonym: "CMTX3" EXACT []
synonym: "X-linked Charcot-Marie-Tooth disease type 3" EXACT []
xref: MESH:C535303
xref: ORDO:101077
is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0110212
name: Charcot-Marie-Tooth disease X-linked recessive 4
alt_id: MIM:310490
def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23217327 "DO"]
synonym: "axonal motor-sensory neuropathy with deafness and mental retardation" EXACT []
synonym: "Charcot-Marie-Tooth disease with deafness and mental retardation" EXACT []
synonym: "Charcot-Marie-Tooth disease X-linked recessive, type 4" EXACT []
synonym: "CMT4X" EXACT []
synonym: "CMTX4" EXACT []
synonym: "Cowchock syndrome" EXACT []
synonym: "COWCK" EXACT []
synonym: "NADMR" EXACT []
synonym: "NAMSD" EXACT []
synonym: "X-linked Charcot-Marie-Tooth disease type 4" EXACT []
synonym: "X-linked recessive Charcot-Marie-Tooth disease 4 with or without cerebellar ataxia" EXACT []
xref: MESH:C536450
xref: ORDO:101078
is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:0110213
name: isolated cleft palate
alt_id: RDO:0015182
def: "A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7143384 "DO"]
synonym: "isolated cleft palate, and mental retardation" EXACT []
xref: ICD10CM:Q35.1
xref: ICD10CM:Q35.5
xref: ICD10CM:Q35.7
xref: ICD10CM:Q35.9
xref: MESH:C566991
xref: ORDO:2014
is_a: DOID:1059 ! intellectual disability
is_a: DOID:674 ! cleft palate

[Term]
id: DOID:0110214
name: cleft soft palate
alt_id: MIM:119570
def: "A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate. (DO)" [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772 "DO"]
synonym: "cleft velum" EXACT []
synonym: "cleft velum palatinum" EXACT []
xref: ICD10CM:Q35.3
xref: MESH:C562950
xref: ORDO:99772
is_a: DOID:674 ! cleft palate

[Term]
id: DOID:0110215
name: Leber congenital amaurosis 5
alt_id: MIM:604537
def: "A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17546029 "DO"]
synonym: "LCA5" EXACT []
synonym: "Leber congenital amaurosis, type 5" EXACT []
xref: MESH:C536602
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110216
name: Leber congenital amaurosis 11
alt_id: MIM:613837
alt_id: RDO:0013196
def: "A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16384941 "DO"]
synonym: "IMPDH1-RELATED CONDITION" BROAD []
synonym: "LCA11" EXACT []
xref: MESH:C564140
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110217
name: Leber congenital amaurosis 17
def: "A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23307924 "DO"]
synonym: "LCA17" EXACT []
xref: MIM:615360
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110218
name: Brugada syndrome 1
def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9521325 "DO"]
synonym: "BRGDA1" EXACT []
synonym: "right bundle branch block, St segment elevation, and sudden death syndrome" EXACT []
xref: MIM:601144
is_a: DOID:0050451 ! Brugada syndrome
is_a: DOID:0050736 ! autosomal dominant disease
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:0110219
name: Brugada syndrome 2
alt_id: MIM:611777
def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17967977 "DO"]
synonym: "BRGDA2" EXACT []
xref: MESH:C567087
is_a: DOID:0050451 ! Brugada syndrome

[Term]
id: DOID:0110220
name: Brugada syndrome 3
alt_id: MIM:611875
def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17224476 "DO"]
synonym: "BRGDA3" EXACT []
synonym: "CACNA1C-RELATED DISORDER" BROAD []
xref: GARD:10361
xref: MESH:C567509
is_a: DOID:0050451 ! Brugada syndrome

[Term]
id: DOID:0110221
name: Brugada syndrome 4
alt_id: MIM:611876
def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17224476 "DO"]
synonym: "BRGDA4" EXACT []
synonym: "CACNB2-RELATED CONDITION" EXACT []
xref: GARD:10362
xref: MESH:C567508
is_a: DOID:0050451 ! Brugada syndrome

[Term]
id: DOID:0110222
name: Brugada syndrome 5
alt_id: MIM:612838
def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18464934 "DO"]
synonym: "BRGDA5" EXACT []
synonym: "CARDIAC CONDUCTION DEFECT, NONSPECIFIC" NARROW []
xref: MESH:C567556
is_a: DOID:0050451 ! Brugada syndrome

[Term]
id: DOID:0110223
name: Brugada syndrome 6
alt_id: MIM:613119
def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19122847 "DO"]
synonym: "BRGDA6" EXACT []
xref: ICD10CM:I49.8
xref: MESH:C567735
is_a: DOID:0050451 ! Brugada syndrome

[Term]
id: DOID:0110224
name: Brugada syndrome 7
alt_id: DOID:9001394
alt_id: MIM:613120
def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20031595 "DO"]
synonym: "ATFB16" RELATED []
synonym: "atrial fibrillation 16" RELATED []
synonym: "BRGDA7" EXACT []
synonym: "familial atrial fibrillation 16" RELATED []
xref: MESH:C567734
is_a: DOID:0050451 ! Brugada syndrome
is_a: DOID:0050650 ! familial atrial fibrillation
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110225
name: Brugada syndrome 8
alt_id: MIM:613123
def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19165230 "DO"]
synonym: "BRGDA8" EXACT []
xref: MESH:C567732
is_a: DOID:0050451 ! Brugada syndrome

[Term]
id: DOID:0110226
name: Brugada syndrome 9
def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21349352 "DO"]
synonym: "BRGDA9" EXACT []
xref: MIM:616399
is_a: DOID:0050451 ! Brugada syndrome
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110227
name: cataract 32 multiple types
alt_id: MIM:115650
def: "A cataract that has_material_basis_in mutation in the region 14q22-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6694185 "DO"]
synonym: "anterior polar cataract" EXACT []
synonym: "anterior polar cataract 1" EXACT []
synonym: "anterior polar cataract 5" EXACT []
synonym: "anterior polar cataract, dominant" EXACT []
synonym: "CAP" EXACT []
synonym: "CTAA1" EXACT []
synonym: "CTPP5" EXACT []
synonym: "CTRCT32" EXACT []
synonym: "posterior polar cataract 5" NARROW []
xref: MESH:C538282
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110228
name: cataract 8 multiple types
alt_id: MIM:115665
def: "A cataract that has_material_basis_in variation in the region 1pter-p36.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7607651 "DO"]
synonym: "Cataract Congenital Volkmann Type" EXACT []
synonym: "CCV" EXACT []
synonym: "CTRCT8" EXACT []
xref: MESH:C538285
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110229
name: cataract 6 multiple types
alt_id: MIM:116600
def: "A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19005574 "DO"]
synonym: "age-cortical cataract 2" EXACT []
synonym: "age-related cortical cataract" BROAD []
synonym: "age-related cortical cataract 2" EXACT []
synonym: "age-related cortical cataract 6" EXACT []
synonym: "ARCC2" EXACT []
synonym: "CTPP1" EXACT []
synonym: "CTRCT6" EXACT []
synonym: "posterior polar cataract 1" EXACT []
xref: MESH:C535339
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110230
name: cataract 34 multiple types
alt_id: MIM:612968
alt_id: RDO:0012056
def: "A cataract that has_material_basis_in variation in the region 1p34.3-p32.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17893665 "DO"]
synonym: "autosomal recessive congenital cataract 3" EXACT []
synonym: "cataract 34 multiple types with or without microcornea" EXACT []
synonym: "CATC3" EXACT []
synonym: "CTRCT34" EXACT []
xref: MESH:C567835
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110231
name: cataract 1 multiple types
alt_id: MIM:116200
def: "A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9497259 "DO"]
synonym: "CAE1" EXACT []
synonym: "CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA" EXACT []
synonym: "Cataract, Duffy-Linked" EXACT []
synonym: "Cataract, Zonular Pulverulent 1" EXACT []
synonym: "CTRCT1" EXACT []
synonym: "CZP" EXACT []
synonym: "CZP1" EXACT []
synonym: "Pulverulent Zonular Cataract" EXACT []
xref: MESH:C566158
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110232
name: cataract 29
def: "A cataract that has_material_basis_in variation in the region 2pter-p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15933805 "DO"]
synonym: "cataract 29 coralliform" EXACT []
xref: MIM:115800
xref: ORDO:98990
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:0110233
name: cataract 27
alt_id: MIM:607304
def: "A cataract that has_material_basis_in mutation in the region 2p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12091400 "DO"]
synonym: "cataract 27 nuclear progressive" EXACT []
synonym: "Cataract, Congenital, Nuclear Progressive" EXACT []
synonym: "CCNP" EXACT []
synonym: "CTRCT27" EXACT []
synonym: "nuclear progressive cataract" EXACT []
xref: MESH:C564596
is_a: DOID:630 ! genetic disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110234
name: cataract 4 multiple types
alt_id: MESH:C563819
alt_id: MESH:C565131
def: "A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9927684 "DO"]
synonym: "CACA" EXACT []
synonym: "cataract 4" EXACT []
synonym: "cataract 4, multiple types, with or without microcornea" EXACT []
synonym: "CCA3" EXACT []
synonym: "congenital blue dot type cataract, 3" EXACT []
synonym: "congenital cataract, cerulean type 3" EXACT []
synonym: "CTRCT4" EXACT []
synonym: "nonnuclear polymorphic congenital cataract" EXACT []
synonym: "PCC" EXACT []
synonym: "punctate cataract, progressive juvenile-onset" EXACT []
xref: MIM:115700
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110235
name: cataract 2 multiple types
alt_id: MESH:C565133
def: "A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10521291 "DO"]
synonym: "CATARACT 2, COPPOCK-LIKE" EXACT []
synonym: "cataract 2 multiple types with or without microcornea" EXACT []
synonym: "Cataract, Coppock-Like" EXACT []
synonym: "Cataract, Embryonic Nuclear" EXACT []
synonym: "CCL" EXACT []
synonym: "CRYGC-RELATED CONDITION" EXACT []
synonym: "CTRCT2" EXACT []
synonym: "nuclear pulverulent cataract" NARROW []
xref: MIM:604307
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110236
name: cataract 39 multiple types
def: "A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23288985 "DO"]
synonym: "autosomal dominant cataract 39 multiple types" EXACT []
synonym: "autosomal dominant cataract, multiple types 2" EXACT []
synonym: "CTRCT39" EXACT []
xref: MIM:615188
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110237
name: cataract 42
def: "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23508780/ "DO"]
synonym: "CRYBA2-RELATED CONDITION" EXACT []
synonym: "CTRCT42" RELATED []
xref: MIM:115900
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110238
name: cataract 18
alt_id: MIM:610019
def: "A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21636066 "DO"]
synonym: "autosomal recessive congenital cataract 2" EXACT []
synonym: "cataract 18 autosomal recessive" EXACT []
synonym: "CATC2" EXACT []
synonym: "CTRCT18" EXACT []
synonym: "FYCO1-RELATED CONDITION" EXACT []
xref: MESH:C535337
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110239
name: cataract 12 multiple types
alt_id: MIM:611597
def: "A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10729115 "DO"]
synonym: "autosomal dominant cataract, multiple types 1" EXACT []
synonym: "BFSP2-RELATED CONDITION" EXACT []
synonym: "CTRCT12" EXACT []
xref: MESH:C566909
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110240
name: cataract 20 multiple types
def: "A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16141006 "DO"]
synonym: "CTRCT20" EXACT []
xref: MIM:116100
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110241
name: cataract 41
alt_id: MIM:116400
def: "A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23531866 "DO"]
synonym: "Cataract 41, Congenital Nuclear Type" EXACT []
synonym: "Cataract, Nuclear Total" EXACT []
synonym: "CTRCT41" EXACT []
xref: MESH:C566156
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110242
name: cataract 13 with adult i phenotype
alt_id: MIM:110800
alt_id: MIM:116700
def: "A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11739194 "DO"]
synonym: "adult i blood group phenotype" EXACT []
synonym: "Adult i Blood Group with Congenital Cataract" EXACT []
synonym: "ADULT i BLOOD GROUP WITH OR WITHOUT CONGENITAL CATARACT" EXACT []
synonym: "Adult i Blood Group without Congenital Cataract" NARROW []
synonym: "adult i phenotype without cataract" NARROW []
synonym: "CTRCT13" EXACT []
synonym: "I BLOOD GROUP SYSTEM" RELATED []
xref: MESH:C566214
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110243
name: cataract 46 juvenile-onset
def: "A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26788539 "DO"]
synonym: "cataract, Hutterite type" EXACT []
synonym: "CTRCT46" EXACT []
synonym: "juvenilae cataract Hutterite type" EXACT []
synonym: "juvenile cataract, Hutterite type" EXACT []
synonym: "juvenile-onset cataract-46 with or without arrhythmic cardiomyopathy" EXACT []
xref: MESH:C538286
xref: MIM:212500
xref: MONDO:0008925
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110244
name: cataract 28
alt_id: MIM:609026
def: "A cataract that has_material_basis_in variation in the region 6p12-q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15452352 "DO"]
synonym: "age-related cortical cataract 1" EXACT []
synonym: "ARCC1" EXACT []
synonym: "CATARACT, AGE-CORTICAL, 1" RELATED []
synonym: "CTRCT28" EXACT []
xref: MESH:C563812
is_a: DOID:13574 ! cortical senile cataract
is_a: DOID:630 ! genetic disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110245
name: cataract 38
def: "A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22415731 "DO"]
synonym: "AGK-related disorder" EXACT []
synonym: "AGK-related disorders" EXACT []
synonym: "CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5" EXACT []
synonym: "CATC5" EXACT []
synonym: "CTRCT38" EXACT []
xref: MIM:614691
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110246
name: cataract 26 multiple types
alt_id: MIM:605749
def: "A cataract that has_material_basis_in variation in the region 9q13-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11179024 "DO"]
synonym: "CAAR" EXACT []
synonym: "Cataract, Autosomal Recessive, Early-Onset, Pulverulent" EXACT []
synonym: "CTRCT26" EXACT []
xref: MESH:C565298
is_a: DOID:630 ! genetic disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110247
name: cataract 36
def: "A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21436445 "DO"]
synonym: "autosomal recessive congenital cataract 4" EXACT []
synonym: "CATC4" EXACT []
synonym: "CTRCT36" EXACT []
xref: MIM:613887
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110248
name: cataract 30
alt_id: MESH:C566157
def: "A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19126778 "DO"]
synonym: "CATARACT 30, MULTIPLE TYPES" EXACT []
synonym: "Cataract 30, pulverulent" EXACT []
synonym: "cataract Coppock-like" EXACT []
synonym: "Cataract, Nuclear Diffuse Nonprogressive" EXACT []
synonym: "CTRCT30" EXACT []
synonym: "Dusty cataract" EXACT []
xref: MIM:116300
xref: ORDO:98984
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110249
name: cataract 11 multiple types
def: "A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9620774 "DO"]
synonym: "CATARACT 11, POSTERIOR POLAR" EXACT []
synonym: "CPP4" EXACT []
synonym: "CTPP4" EXACT []
synonym: "CTRCT11" EXACT []
synonym: "PITX3-RELATED CONDITION" BROAD []
synonym: "posterior polar cataract 4" EXACT []
xref: MESH:C535344
xref: MIM:610623
xref: MONDO:0012527
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110250
name: cataract 16 multiple types
def: "A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11577372 "DO"]
synonym: "CATARACT, CONGENITAL LAMELLAR" EXACT []
synonym: "CTPP2" NARROW []
synonym: "CTRCT16" EXACT []
synonym: "posterior polar cataract 2" NARROW []
xref: MESH:C565134
xref: MIM:613763
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110251
name: cataract 15 multiple types
def: "A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10802646 "DO"]
synonym: "CTRCT15" EXACT []
synonym: "MIP-RELATED CONDITION" EXACT []
xref: MIM:615274
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110252
name: cataract 37
def: "A cataract that has_material_basis_in variation in the region 12q24.2-q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21731060 "DO"]
synonym: "CCA5" EXACT []
synonym: "congenital cataract cerulean type 5" EXACT []
synonym: "CTRCT37" EXACT []
xref: MIM:614422
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:0110253
name: cataract 14 multiple types
def: "A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9199569 "DO"]
synonym: "CAE3" EXACT []
synonym: "CTRCT14" EXACT []
synonym: "CZP3" NARROW []
synonym: "zonular pulverulent cataract 3" NARROW []
xref: MESH:C566608
xref: MIM:601885
xref: MONDO:0011162
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110254
name: cataract 25
alt_id: MIM:605728
def: "A cataract that has_material_basis_in variation in the region 15q21-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11133359 "DO"]
synonym: "CCSSO" EXACT []
synonym: "central pouch-like cataract with sutural opacities" EXACT []
synonym: "central saccular cataract with sutural opacities" EXACT []
synonym: "CTRCT25" EXACT []
synonym: "early-onset cataract with Y-shaped suture opacities" EXACT []
xref: MESH:C565301
xref: ORDO:98985
is_a: DOID:630 ! genetic disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110255
name: cataract 5 multiple types
alt_id: MIM:116800
alt_id: OMIA:001758
def: "A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12089525 "DO"]
synonym: "CAM" EXACT []
synonym: "Cataract, Marner Type" EXACT []
synonym: "CTM" EXACT []
synonym: "CTRCT5" EXACT []
synonym: "early onset cataract" EXACT []
synonym: "lamellar cataract" EXACT []
synonym: "perinuclear cataract" EXACT []
synonym: "zonular cataract" EXACT []
xref: MESH:C535342
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110256
name: cataract 21 multiple types
alt_id: MIM:610202
def: "A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11772997 "DO"]
synonym: "cataract 21 multiple types, with or without microcornea" EXACT []
synonym: "CCA4" EXACT []
synonym: "congenital cataract, cerulean type, 4" EXACT []
synonym: "CTRCT21" EXACT []
synonym: "pulverulent cataract, juvenile-onset" EXACT []
xref: MESH:C565703
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110257
name: cataract 24
alt_id: MIM:601202
def: "A cataract that has_material_basis_in variation in the region 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8852669 "DO"]
synonym: "anterior polar cataract 2" NARROW []
synonym: "anterior polar cataract 24" NARROW []
synonym: "CTAA2" NARROW []
synonym: "CTRCT24" EXACT []
xref: MESH:C537774
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110258
name: cataract 10 multiple types
alt_id: MIM:600881
def: "A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7573044 "DO"]
synonym: "CCZS" NARROW []
synonym: "congenital zonular cataract with sutural opacities" NARROW []
synonym: "CTRCT10" EXACT []
xref: MESH:C563435
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110259
name: cataract 43
def: "A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24549050 "DO"]
synonym: "CTRCT43" EXACT []
xref: MIM:616279
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110260
name: cataract 7
alt_id: MIM:115660
def: "A cataract that has_material_basis_in variation in the region 17q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7704021 "DO"]
synonym: "CATARACT 7, CERULEAN TYPE" EXACT []
synonym: "CCA1" EXACT []
synonym: "Cerulean Cataract" EXACT []
synonym: "congenital cataract, blue dot type 1" EXACT []
synonym: "congenital cataract, cerulean type 1" EXACT []
synonym: "CTRCT7" EXACT []
xref: MESH:C537955
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110261
name: cataract 35
alt_id: MIM:609376
def: "A cataract that has_material_basis_in variation in the region 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15671291 "DO"]
synonym: "autosomal recessive congenital nuclear cataract 1" EXACT []
synonym: "cataract 35, congenital nuclear" EXACT []
synonym: "CATCN1" EXACT []
synonym: "CTRCT35" EXACT []
xref: MESH:C563728
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0110262
name: cataract 45
def: "A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25804400 "DO"]
synonym: "CTRCT45" EXACT []
xref: MIM:616851
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110263
name: cataract 19 multiple types
def: "A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11917274 "DO"]
synonym: "CATARACT 19" EXACT []
synonym: "CTRCT19" EXACT []
xref: ICD10CM:Q12.0
xref: MIM:615277
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110264
name: cataract 33
alt_id: MIM:611391
def: "A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17225135 "DO"]
synonym: "CATARACT 33, MULTIPLE TYPES" EXACT []
synonym: "cortical cataract 33" EXACT []
synonym: "cortical cataract, juvenile-onset" RELATED []
synonym: "CTRCT33" EXACT []
xref: MESH:C566955
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110265
name: cataract 31 multiple types
alt_id: MIM:605387
def: "A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17701905 "DO"]
synonym: "CPP3" EXACT []
synonym: "CTPP3" EXACT []
synonym: "CTRCT31" EXACT []
synonym: "posterior polar cataract 3" EXACT []
xref: MESH:C535343
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110266
name: cataract 9 multiple types
alt_id: MIM:604219
def: "A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26867756 "DO", https://www.omim.org/entry/604219 "DO"]
synonym: "CATARACT 9, AUTOSOMAL RECESSIVE" NARROW []
synonym: "Cataract 9, multiple types, with or without microcornea" EXACT []
synonym: "Cataract, Autosomal Dominant" NARROW []
synonym: "Cataract, autosomal dominant, multiple types, with microcornea" NARROW []
synonym: "CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1" EXACT []
synonym: "CATC1" EXACT []
synonym: "CTRCT9" EXACT []
xref: MESH:C565815
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110267
name: cataract 44
def: "A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26200341 "DO"]
synonym: "congenital cataract-44" EXACT []
synonym: "CTRCT44" EXACT []
synonym: "total early-onset cataract" EXACT []
xref: MIM:616509
xref: ORDO:98994
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110268
name: cataract 22 multiple types
alt_id: MIM:609741
def: "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15914629 "DO"]
synonym: "Cataract, Congenital Nuclear, Autosomal Recessive 2" EXACT []
synonym: "CATCN2" EXACT []
synonym: "CTRCT22" EXACT []
xref: MESH:C565725
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0110269
name: cataract 3 multiple types
def: "A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9158139 "DO"]
synonym: "cataract 3 multiple types with or without microcornea" EXACT []
synonym: "Cataract, Congenital, Blue Dot Type, 2" EXACT []
synonym: "CCA2" NARROW []
synonym: "congenital Cerulean type cataract 2" NARROW []
synonym: "CTRCT3" EXACT []
xref: MESH:C563294
xref: MIM:601547
xref: MONDO:0011104
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110270
name: cataract 17 multiple types
alt_id: MIM:611544
def: "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12360425 "DO"]
synonym: "CATARACT 17, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA" EXACT []
synonym: "Cataract, Congenital Nuclear, Autosomal Recessive 3" EXACT []
synonym: "CATCN3" EXACT []
synonym: "CTRCT17" EXACT []
xref: MESH:C566923
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:83 ! cataract
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0110271
name: cataract 23
def: "A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16960806 "DO"]
synonym: "cataract 23, multiple types" EXACT []
synonym: "cataract 23, multiple types, with or without microcornea" EXACT []
synonym: "CTRCT23" EXACT []
synonym: "lamellar cataract 23" EXACT []
xref: MIM:610425
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110272
name: cataract 40
alt_id: MIM:302200
def: "A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15370543 "DO"]
synonym: "CATARACT 40 WITH OR WITHOUT MICROCORNEA" EXACT []
synonym: "cataract 40, X-linked" EXACT []
synonym: "Cataract, total congenital with posterior sutural opacities in Heterozygotes" EXACT []
synonym: "CCT" EXACT []
synonym: "congenital cataract with microcornea or slight microphthalmia" EXACT []
synonym: "CTRCT40" EXACT []
synonym: "CXN" EXACT []
synonym: "NHS-RELATED CONDITION" BROAD []
synonym: "total congenital cataract" EXACT []
synonym: "X-linked congenital cataract" EXACT []
xref: MESH:C535338
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10629 ! microphthalmia
is_a: DOID:83 ! cataract

[Term]
id: DOID:0110273
name: autosomal dominant limb-girdle muscular dystrophy
def: "A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3275904 "DO"]
xref: MIM:PS603511
xref: ORDO:102014
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11724 ! limb-girdle muscular dystrophy
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0110274
name: autosomal recessive limb-girdle muscular dystrophy
def: "A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13810212 "DO"]
synonym: "recessive limb-girdle muscular dystrophy" EXACT []
xref: MESH:C538640
xref: MIM:PS253600
xref: ORDO:102015
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11724 ! limb-girdle muscular dystrophy

[Term]
id: DOID:0110275
name: autosomal recessive limb-girdle muscular dystrophy type 2A
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7720071 "DO"]
synonym: "autosomal recessive limb-girdle muscular dystrophy, 1" EXACT []
synonym: "calpainopathy" EXACT []
synonym: "CAPN3-RELATED DISORDER" BROAD []
synonym: "eosinophilic myositis" NARROW []
synonym: "Leyden-Moebius muscular dystrophy" EXACT []
synonym: "LGMD2" EXACT []
synonym: "LGMD2A" EXACT []
synonym: "LGMDR1" EXACT []
synonym: "limb-girdle muscular dystrophy due to calpain deficiency" EXACT []
synonym: "limb-girdle muscular dystrophy type 2" EXACT []
synonym: "limb-girdle muscular dystrophy, type 2A" EXACT []
synonym: "pelvofemoral muscular dystrophy" EXACT []
synonym: "primary calpainopathy" EXACT []
xref: EFO:0000310
xref: GARD:3845
xref: MESH:C535895
xref: MIM:253600
xref: MONDO:0009675
xref: NCI:C142079
xref: ORDO:267
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110276
name: autosomal recessive limb-girdle muscular dystrophy type 2B
alt_id: MIM:253601
alt_id: RDO:0001264
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9731527 "DO"]
synonym: "LGMD2B" EXACT []
synonym: "LGMD3" EXACT []
synonym: "limb-girdle muscular dystrophy due to dysferlin deficiency" EXACT []
synonym: "LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B" EXACT []
synonym: "Muscular dystrophy, limb-girdle, type 3" EXACT []
xref: MESH:C535899
xref: NCI:C142080
xref: ORDO:268
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110277
name: autosomal recessive limb-girdle muscular dystrophy type 2C
alt_id: MIM:253700
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7481775 "DO"]
synonym: "autosomal recessive limb-girdle muscular dystrophy 5" EXACT []
synonym: "DMDA" EXACT []
synonym: "DMDA1" EXACT []
synonym: "Duchenne-like muscular dystrophy, autosomal recessive, type 1" EXACT []
synonym: "gamma-sarcoglycanopathy" EXACT []
synonym: "LGMD2C" EXACT []
synonym: "LGMDR5" EXACT []
synonym: "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency" EXACT []
synonym: "limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency" EXACT []
synonym: "Maghrebian myopathy" EXACT []
synonym: "Muscular dystrophy, Duchenne-like" EXACT []
synonym: "muscular dystrophy, limb-girdle, type 2C" EXACT []
synonym: "SARCOGLYCAN, GAMMA, DEFICIENCY OF" EXACT []
synonym: "SCARMD" EXACT []
synonym: "secondary adhalin deficiency" EXACT []
synonym: "severe autosomal recessive muscular dystrophy of childhood - North African type" EXACT []
synonym: "severe childhood autosomal recessive muscular dystrophy, North African type" EXACT []
xref: MESH:C535900
xref: ORDO:353
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110278
name: autosomal recessive limb-girdle muscular dystrophy type 2D
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q. (DO)" [https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy "DO", https://www.ncbi.nlm.nih.gov/pubmed/30055862 "DO", https://www.omim.org/entry/608099 "DO"]
synonym: "adhalinopathies" EXACT []
synonym: "alpha-sarcoglycanopathies" EXACT []
synonym: "alpha-sarcoglycanopathy" EXACT []
synonym: "DMDA2" EXACT []
synonym: "Duchenne-like autosomal recessive muscular dystrophy type 2" EXACT []
synonym: "LGMD2D" EXACT []
synonym: "LGMDR3" EXACT []
synonym: "limb-girdle muscular dystrophy, autosomal recessive 3" EXACT []
synonym: "limb girdle muscular dystrophy, type 2D" EXACT []
synonym: "limb girdle muscular dystrophy with alpha sarcoglycan deficiency" EXACT []
synonym: "primary adhalinopathies" EXACT []
synonym: "primary adhalinopathy" EXACT []
synonym: "sarcoglycanopathies" EXACT []
synonym: "sarcoglycanopathy" EXACT []
xref: MESH:D058088
xref: MIM:608099
xref: MONDO:0011968
xref: NCI:C142081
xref: ORDO:62
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:0110279
name: autosomal recessive limb-girdle muscular dystrophy type 2E
alt_id: MESH:C535435
alt_id: MIM:604286
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7581448 "DO"]
synonym: "autosomal recessive limb-girdle muscular dystrophy 4" EXACT []
synonym: "beta-sarcoglycan limb-girdle muscular dystrophy" EXACT []
synonym: "beta-sarcoglycanopathy" EXACT []
synonym: "LGMD2E" EXACT []
synonym: "LGMDR4" EXACT []
synonym: "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency" EXACT []
synonym: "limb-girdle muscular dystrophy with beta-sarcoglycan deficiency" EXACT []
synonym: "muscular dystrophy, limb-girdle, type 2E" EXACT []
xref: MESH:C535902
xref: NCI:C180849
xref: ORDO:119
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110280
name: autosomal recessive limb-girdle muscular dystrophy type 2F
alt_id: MIM:601287
alt_id: OMIA:002122
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8841194 "DO"]
synonym: "autosomal recessive limb-girdle muscular dystrophy 6" EXACT []
synonym: "autosomal recessive limb-girdle muscular dystrophy 6, digenic" NARROW []
synonym: "DELTA-SARCOGLYCANOPATHY" EXACT []
synonym: "LGMD2F" EXACT []
synonym: "LGMDR6" EXACT []
synonym: "limb-girdle muscular dystrophy 2F" EXACT []
synonym: "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency" EXACT []
synonym: "limb-girdle muscular dystrophy type 2F" EXACT []
synonym: "limb-girdle muscular dystrophy type 2f, digenic" NARROW []
synonym: "limb-girdle muscular dystrophy with delta-sarcoglyan deficiency" EXACT []
xref: MESH:C535896
xref: ORDO:219
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110281
name: autosomal recessive limb-girdle muscular dystrophy type 2G
alt_id: MIM:601954
alt_id: RDO:0014912
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10655062 "DO"]
synonym: "LGMD2G" EXACT []
synonym: "limb-girdle muscular dystrophy due to telethonin deficiency" EXACT []
synonym: "muscular dystrophy, limb-girdle, type 2G" EXACT []
xref: MESH:C566599
xref: ORDO:34514
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110282
name: autosomal recessive limb-girdle muscular dystrophy type 2H
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11822024 "DO"]
synonym: "LGMD2H" EXACT []
synonym: "LGMDR8" EXACT []
synonym: "limb-girdle muscular dystrophy due to TRIM32 deficiency" EXACT []
synonym: "limb-girdle muscular dystrophy type 2H" EXACT []
synonym: "muscular dystrophy Hutterite type" EXACT []
synonym: "sarcotubular myopathy" EXACT []
synonym: "TRIM32-RELATED CONDITION" BROAD []
xref: GARD:3844
xref: MESH:C535897
xref: MIM:254110
xref: MONDO:0009683
xref: ORDO:1878
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110283
name: autosomal recessive limb-girdle muscular dystrophy type 2J
alt_id: MIM:608807
alt_id: RDO:0013004
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12145747 "DO"]
synonym: "LGMD2J" EXACT []
synonym: "LGMDR10" EXACT []
synonym: "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10" EXACT []
synonym: "muscular dystrophy, limb-girdle, type 2J" EXACT []
xref: ICD10CM:G71.0
xref: MESH:C563854
xref: ORDO:140922
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110284
name: autosomal recessive limb-girdle muscular dystrophy type 2L
alt_id: MIM:611307
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20096397 "DO"]
synonym: "anoctaminopathy" EXACT []
synonym: "LGMD2L" EXACT []
synonym: "limb-girdle muscular dystrophy type 2L" EXACT []
xref: MESH:C566968
xref: ORDO:206549
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110285
name: autosomal recessive limb-girdle muscular dystrophy type 2Q
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21109228 "DO"]
synonym: "autosomal recessive limb-girdle muscular dystrophy 17" EXACT []
synonym: "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" EXACT []
synonym: "LGMD2Q" EXACT []
synonym: "LGMDR17" EXACT []
synonym: "limb-girdle muscular dystrophy, type 2Q" EXACT []
xref: MIM:613723
xref: ORDO:254361
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110287
name: autosomal recessive limb-girdle muscular dystrophy type 2S
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23830518 "DO"]
synonym: "LGMD2S" EXACT []
synonym: "LGMDR18" EXACT []
synonym: "limb-girdle muscular dystrophy, autosomal recessive 18" EXACT []
synonym: "limb-girdle muscular dystrophy, type 2S" EXACT []
xref: MIM:615356
xref: MONDO:0014144
xref: ORDO:369840
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110288
name: autosomal recessive limb-girdle muscular dystrophy type 2W
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25589244 "DO", https://www.omim.org/entry/616827 "DO"]
synonym: "autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue" EXACT []
synonym: "LGMD2W" EXACT []
synonym: "limb-girdle muscular dystrophy, type 2W" EXACT []
xref: MIM:616827
xref: ORDO:466801
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110289
name: autosomal recessive limb-girdle muscular dystrophy type 2Y
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24856141 "DO"]
synonym: "autosomal recessive muscular dystrophy due to LAP1B deficiency" EXACT []
synonym: "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency" EXACT []
synonym: "autosomal recessive myopathy with rigid spine and distal joint contractures" EXACT []
synonym: "LGMD2Y" EXACT []
synonym: "limb-girdle muscular dystrophy type 2Y" EXACT []
synonym: "MRRSDC" EXACT []
synonym: "muscular dystrophy with progressive weakness, distal contractures and rigid spine" EXACT []
xref: MIM:617072
xref: NCI:C181000
xref: ORDO:424261
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110290
name: autosomal recessive limb-girdle muscular dystrophy type 2X
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26642364 "DO"]
synonym: "CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE" EXACT []
synonym: "CARICK" EXACT []
synonym: "LGMD2X" EXACT []
synonym: "LGMDR25" EXACT []
synonym: "limb-girdle muscular dystrophy, autosomal recessive 25" EXACT []
synonym: "limb-girdle muscular dystrophy, type 2X" EXACT []
xref: MIM:616812
xref: ORDO:476084
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:0110291
name: Leber congenital amaurosis 10
def: "A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16909394 "DO"]
synonym: "LCA10" EXACT []
xref: MESH:C565720
xref: MIM:611755
xref: MONDO:0012723
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110292
name: autosomal recessive limb-girdle muscular dystrophy type 2O
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18195152 "DO"]
synonym: "autosomal recessive limb-girdle muscular dystrophy 15" EXACT []
synonym: "LGMD2O" EXACT []
synonym: "LGMDR15" EXACT []
synonym: "MDDGC3" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related" EXACT []
xref: MIM:613157
xref: ORDO:206564
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110293
name: autosomal recessive limb-girdle muscular dystrophy type 2P
alt_id: RDO:9000584
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21388311 "DO"]
synonym: "LGMD2P" EXACT []
synonym: "MDDGC9" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9" EXACT []
synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED" EXACT []
synonym: "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P" EXACT []
xref: MIM:613818
xref: ORDO:280333
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy
is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy
is_a: DOID:1059 ! intellectual disability

[Term]
id: DOID:0110294
name: autosomal recessive limb-girdle muscular dystrophy type 2T
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23768512 "DO"]
synonym: "LGMD2T" EXACT []
synonym: "MDDGC14" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related" EXACT []
synonym: "muscular dystrophy limb-girdle type 2T" EXACT []
xref: MIM:615352
xref: ORDO:363623
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110295
name: autosomal recessive limb-girdle muscular dystrophy type 2U
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23390185 "DO"]
synonym: "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" EXACT []
synonym: "LGMD2U" EXACT []
synonym: "MDDGC7" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7" EXACT []
synonym: "muscular dystrophy limb-girdle type 2U" EXACT []
xref: MIM:616052
xref: ORDO:352479
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0110296
name: autosomal recessive limb-girdle muscular dystrophy type 2M
alt_id: MIM:611588
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17044012 "DO"]
synonym: "autosomal recessive limb-girdle muscular dystrophy 13" EXACT []
synonym: "LGMD2M" EXACT []
synonym: "LGMDR13" EXACT []
synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, type C4" EXACT []
synonym: "limb-girdle muscular dystrophy type 2M" EXACT []
synonym: "MDDGC4" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4" EXACT []
xref: MESH:C566912
xref: ORDO:206554
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110297
name: autosomal recessive limb-girdle muscular dystrophy type 2K
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15792865 "DO"]
synonym: "autosomal recessive limb-girdle muscular dystrophy 11" EXACT []
synonym: "LGMD2K" EXACT []
synonym: "LGMDR11" EXACT []
synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, type C1" EXACT []
synonym: "limb-girdle muscular dystrophy-intellectual disability syndrome" EXACT []
synonym: "limb-girdle muscular dystrophy, type 2K" EXACT []
synonym: "MDDGC1" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1" EXACT []
synonym: "POMT1-related muscle-eye-brain disease" EXACT []
synonym: "POMT1-related muscle-eye-brain diseases" EXACT []
xref: EFO:0009145
xref: MIM:609308
xref: NCI:C133730
xref: ORDO:86812
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110298
name: autosomal recessive limb-girdle muscular dystrophy type 2N
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17878207 "DO"]
synonym: "LGMD2N" EXACT []
synonym: "LGMDR14" EXACT []
synonym: "limb-girdle muscular dystrophy, autosomal recessive 14" EXACT []
synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, POMT2-related" EXACT []
synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, type C2" EXACT []
synonym: "limb-girdle muscular dystrophy, type 2N" EXACT []
synonym: "MDDGC2" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2" EXACT []
xref: MIM:613158
xref: ORDO:206559
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110299
name: autosomal recessive limb-girdle muscular dystrophy type 2I
alt_id: MIM:607155
def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11592034 "DO"]
synonym: "autosomal recessive limb-girdle muscular dystrophy 9" EXACT []
synonym: "LGMD2I" EXACT []
synonym: "LGMDR9" EXACT []
synonym: "limb-girdle muscular dystrophy due to FKRP deficiency" EXACT []
synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, FRKP-related" EXACT []
synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, type C5" EXACT []
synonym: "limb-girdle muscular dystrophy, type 2I" EXACT []
synonym: "MDDGC5" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5" EXACT []
xref: MESH:C564612
xref: NCI:C126739
xref: ORDO:34515
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:0110303
name: autosomal dominant limb-girdle muscular dystrophy type 1H
def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in with variation in the region 3p25.1-p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20068593 "DO"]
synonym: "LGMD1H" EXACT []
synonym: "muscular dystrophy limb-girdle type 1H" EXACT []
xref: MIM:613530
xref: ORDO:238755
is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy

[Term]
id: DOID:0110304
name: autosomal dominant limb-girdle muscular dystrophy type 2
alt_id: MIM:608423
alt_id: RDO:0013268
def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23543484 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23667635 "DO"]
synonym: "autosomal dominant limb-girdle muscular dystrophy type 1F" EXACT []
synonym: "LGMD1F" EXACT []
synonym: "muscular dystrophy limb-girdle type 1F" EXACT []
xref: MESH:C564242
xref: ORDO:55595
is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy

[Term]
id: DOID:0110305
name: autosomal dominant limb-girdle muscular dystrophy type 1
alt_id: MESH:C566370
alt_id: MESH:C566589
def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22334415 "DO"]
synonym: "autosomal dominant limb-girdle muscular dystrophy 1" EXACT []
synonym: "autosomal dominant limb-girdle muscular dystrophy type 1E" EXACT []
synonym: "LGMD1D" EXACT []
synonym: "LGMD1E" EXACT []
synonym: "LGMDD1" EXACT []
synonym: "muscular dystrophy limb-girdle type 1D" EXACT []
synonym: "muscular dystrophy limb-girdle type 1E" EXACT []
xref: MIM:603511
xref: ORDO:34517
is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy

[Term]
id: DOID:0110306
name: autosomal dominant limb-girdle muscular dystrophy type 3
alt_id: MIM:609115
alt_id: RDO:0012962
def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24647604 "DO"]
synonym: "autosomal dominant limb-girdle muscular dystrophy type 1G" EXACT []
synonym: "LGMD1G" EXACT []
synonym: "muscular dystrophy limb-girdle type 1G" EXACT []
xref: MESH:C563794
xref: ORDO:55596
is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy

[Term]
id: DOID:0110307
name: hypertrophic cardiomyopathy 1
alt_id: DOID:0110325
alt_id: MIM:192600
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1975517 "DO"]
synonym: "ASH" EXACT []
synonym: "asymmetric septal hypertrophy" EXACT []
synonym: "cardiomyopathy, familial hypertrophic 1" EXACT []
synonym: "CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC" EXACT []
synonym: "CMH" EXACT []
synonym: "CMH1" EXACT []
synonym: "hypertrophic cardiomyopathy 19" EXACT []
synonym: "idiopathic hypertrophic subaortic stenosis" EXACT []
xref: MESH:C566005
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110308
name: hypertrophic cardiomyopathy 2
alt_id: MIM:115195
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8205619 "DO"]
synonym: "cardiomyopathy familial hypertrophic 2" EXACT []
synonym: "CMH2" EXACT []
xref: MESH:C566171
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110309
name: hypertrophic cardiomyopathy 3
alt_id: MIM:115196
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8205619 "DO"]
synonym: "cardiomyopathy familial hypertrophic 3" EXACT []
synonym: "CMH3" EXACT []
synonym: "TPM1-RELATED CONDITION" BROAD []
xref: MESH:C566170
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110310
name: hypertrophic cardiomyopathy 4
alt_id: MIM:115197
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7493025 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7493026 "DO"]
synonym: "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO" RELATED []
synonym: "CMH4" EXACT []
synonym: "FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 4" EXACT []
synonym: "MYBPC3-RELATED CONDITION" BROAD []
xref: MESH:C566169
xref: RDO:0014607
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110311
name: hypertrophic cardiomyopathy 21
def: "A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16651466 "DO"]
synonym: "cardiomyopathy familial hypertrophic 21" EXACT []
synonym: "CMH21" EXACT []
xref: MIM:614676
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:0110312
name: hypertrophic cardiomyopathy 6
alt_id: MIM:600858
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11586962 "DO"]
synonym: "CMH6" EXACT []
synonym: "familial hypertrophic cardiomyopathy 6" EXACT []
xref: MESH:C563436
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110313
name: hypertrophic cardiomyopathy 7
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9241277 "DO"]
synonym: "CMH7" EXACT []
synonym: "familial hypertrophic cardiomyopathy 7" EXACT []
xref: MIM:613690
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110314
name: hypertrophic cardiomyopathy 8
alt_id: MIM:608751
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8673105 "DO"]
synonym: "cardiomyopathy, familial hypertrophic, 8" EXACT []
synonym: "cardiomyopathy hypertrophic mid-left ventricular chamber type 1" EXACT []
synonym: "CMH8" EXACT []
xref: MESH:C563866
xref: RDO:0013011
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110315
name: hypertrophic cardiomyopathy 9
alt_id: MIM:613765
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10462489 "DO"]
synonym: "cardiomyopathy, familial hypertrophic, 9" EXACT []
synonym: "CMH9" EXACT []
xref: MESH:C566044
xref: RDO:0014519
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110316
name: hypertrophic cardiomyopathy 10
alt_id: MIM:608758
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8673105 "DO"]
synonym: "Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2" EXACT []
synonym: "CMH10" EXACT []
synonym: "familial hypertrophic cardiomyopathy 10" EXACT []
synonym: "FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY" EXACT []
xref: MESH:C563865
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110317
name: hypertrophic cardiomyopathy 11
alt_id: MIM:612098
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10330430 "DO"]
synonym: "cardiomyopathy familial hypertrophic 11" EXACT []
synonym: "CMH11" EXACT []
xref: MESH:C567419
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110318
name: hypertrophic cardiomyopathy 12
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12642359 "DO"]
synonym: "cardiomyopathy familial hypertrophic 12" EXACT []
synonym: "CMH12" EXACT []
synonym: "CSRP3-RELATED DISORDER" BROAD []
xref: MIM:612124
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110319
name: hypertrophic cardiomyopathy 13
alt_id: MIM:613243
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11385718 "DO"]
synonym: "cardiomyopathy familial hypertrophic 13" EXACT []
synonym: "CMH13" EXACT []
xref: MESH:C567686
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110320
name: hypertrophic cardiomyopathy 14
alt_id: MIM:613251
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11815426 "DO"]
synonym: "cardiomyopathy familial hypertrophic 14" EXACT []
synonym: "CMH14" EXACT []
xref: MESH:C567684
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110321
name: hypertrophic cardiomyopathy 15
alt_id: MIM:613255
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16712796 "DO"]
synonym: "cardiomyopathy familial hypertrophic 15" EXACT []
synonym: "CMH15" EXACT []
synonym: "VCL-RELATED CONDITION" BROAD []
xref: MESH:C567681
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110322
name: hypertrophic cardiomyopathy 16
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17347475 "DO"]
synonym: "cardiomyopathy familial hypertrophic 16" EXACT []
synonym: "CMH16" EXACT []
synonym: "MYOZ2-RELATED CONDITION" EXACT []
xref: MIM:613838
xref: MONDO:0013455
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110323
name: hypertrophic cardiomyopathy 17
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17509612 "DO"]
synonym: "cardiomyopathy familial hypertrophic 17" EXACT []
synonym: "CMH17" EXACT []
synonym: "JPH2-RELATED CONDITION" BROAD []
xref: MIM:613873
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110324
name: hypertrophic cardiomyopathy 18
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12705874 "DO"]
synonym: "cardiomyopathy familial hypertrophic 18" EXACT []
synonym: "CMH18" EXACT []
xref: MIM:613874
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110326
name: hypertrophic cardiomyopathy 20
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20970104 "DO"]
synonym: "cardiomyopathy familial hypertrophic 20" EXACT []
synonym: "CMH20" EXACT []
synonym: "NEXN-RELATED CONDITION" BROAD []
xref: MIM:613876
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110327
name: hypertrophic cardiomyopathy 26
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25351925 "DO"]
synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 15" RELATED []
synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 15" RELATED []
synonym: "ARVC15" RELATED []
synonym: "ARVD15" RELATED []
synonym: "CARDIOMYOPATHY, DILATED, 1PP" RELATED []
synonym: "CMD1PP" RELATED []
synonym: "CMH26" EXACT []
synonym: "familial hypertrophic cardiomyopathy 26" EXACT []
synonym: "familial restrictive cardiomyopathy 5" RELATED []
synonym: "RCM5" RELATED []
xref: MIM:617047
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy
is_a: DOID:397 ! restrictive cardiomyopathy

[Term]
id: DOID:0110328
name: hypertrophic cardiomyopathy 25
def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15582318 "DO"]
synonym: "cardiomyopathy familial hypertrophic 25" EXACT []
synonym: "CMD1N" NARROW []
synonym: "CMH25" EXACT []
synonym: "dilated cardiomyopathy 1N" NARROW []
xref: MESH:C564388
xref: MIM:607487
xref: MONDO:0011843
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110329
name: Leber congenital amaurosis 6
alt_id: MIM:613826
def: "A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11283794 "DO"]
synonym: "LCA6" EXACT []
xref: MESH:C565327
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110330
name: Leber congenital amaurosis 13
alt_id: MIM:612712
def: "A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15258582 "DO"]
synonym: "LCA13" EXACT []
synonym: "RETINITIS PIGMENTOSA 53" NARROW []
synonym: "RP53" NARROW []
xref: MESH:C567197
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110331
name: Leber congenital amaurosis 3
alt_id: MESH:C536998
alt_id: MESH:C565814
def: "A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19268277 "DO"]
synonym: "amaurosis congenita of Leber, 3" EXACT []
synonym: "juvenile retinitis pigmentosa, autosomal recessive" NARROW []
synonym: "juvenile retinitis pigmentosa, SPATA7-related" NARROW []
synonym: "LCA3" EXACT []
synonym: "Leber Congenital Amaurosis Type 3" EXACT []
synonym: "retinitis pigmentosa 94, variable age at onset" NARROW []
synonym: "retinitis pigmentosa 94, variable age at onset, autosomal recessive" NARROW []
synonym: "RP94" NARROW []
synonym: "SPATA7-related disorder" BROAD []
xref: MIM:604232
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110332
name: Leber congenital amaurosis 4
def: "A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10615133 "DO"]
synonym: "AIPL1-RELATED CONDITION" BROAD []
synonym: "AIPL1-related disorders" BROAD []
synonym: "amaurosis congenita of Leber, 4" EXACT []
synonym: "CONE-ROD DYSTROPHY, AIPL1-RELATED" RELATED []
synonym: "juvenile retinitis pigmentosa, AIPL1-related" RELATED []
synonym: "LCA4" EXACT []
synonym: "Leber congenital amaurosis, type 4" EXACT []
synonym: "Retinitis pigmentosa, juvenile" RELATED []
xref: MESH:C536999
xref: MESH:C565778
xref: MIM:604393
xref: MONDO:0011458
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110333
name: Leber congenital amaurosis 7
def: "A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9537410 "DO"]
synonym: "LCA7" EXACT []
xref: MIM:613829
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110334
name: osteogenesis imperfecta type 1
alt_id: MIM:166200
def: "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2873381 "DO"]
synonym: "OI1" EXACT []
synonym: "OI type I" EXACT []
synonym: "osteogenesis imperfecta, COL1A2-related" EXACT []
synonym: "osteogenesis imperfecta tarda" EXACT []
synonym: "osteogenesis imperfecta, type 1A" EXACT []
synonym: "osteogenesis imperfecta type 1, mild" EXACT []
synonym: "osteogenesis imperfecta, type 1, with dentinogenesis imperfecta" EXACT []
synonym: "osteogenesis imperfecta type I" EXACT []
synonym: "osteogenesis imperfecta, type I, with dentinogenesis imperfecta" EXACT []
synonym: "osteogenesis imperfecta with opalescent teeth" EXACT []
xref: GARD:8694
xref: MESH:C536041
xref: ORDO:216796
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12347 ! osteogenesis imperfecta
is_a: DOID:4154 ! dentinogenesis imperfecta

[Term]
id: DOID:0110335
name: osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures
alt_id: MIM:166230
def: "An osteogenesis imperfecta found in a single South African family. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7241530 "DO"]
xref: MESH:C563487
is_a: DOID:11343 ! scleral disease
is_a: DOID:12347 ! osteogenesis imperfecta
is_a: DOID:4154 ! dentinogenesis imperfecta

[Term]
id: DOID:0110336
name: osteogenesis imperfecta type 8
alt_id: MIM:610915
def: "An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17277775 "DO"]
synonym: "OI8" EXACT []
synonym: "OI, TYPE VIII" EXACT []
synonym: "osteogenesis imperfecta type VIII" EXACT []
xref: GARD:10152
xref: MESH:C536049
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110337
name: osteogenesis imperfecta type 7
alt_id: MESH:C536043
alt_id: MIM:610682
def: "An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055431 "DO"]
synonym: "OI2B" EXACT []
synonym: "OI7" EXACT []
synonym: "OI, Type VII" EXACT []
synonym: "Osteogenesis imperfecta, perinatal lethal, autosomal recessive" EXACT []
synonym: "osteogenesis imperfecta, type 2B" EXACT []
synonym: "osteogenesis imperfecta, type IIB" EXACT []
synonym: "osteogenesis imperfecta, type VII" EXACT []
xref: GARD:8701
xref: MESH:C565200
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110338
name: osteogenesis imperfecta type 17
def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26027498 "DO"]
synonym: "OI17" EXACT []
synonym: "osteogenesis imperfecta type XVII" EXACT []
xref: MIM:616507
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110339
name: osteogenesis imperfecta type 3
alt_id: MIM:259420
alt_id: OMIA:002126
alt_id: RDO:0001458
def: "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2794057 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9099837 "DO"]
synonym: "OI3" EXACT []
synonym: "OI, type III" EXACT []
synonym: "osteogenesis imperfecta type III" EXACT []
synonym: "osteogenesis imperfecta, type III/IV" BROAD []
synonym: "osteogenesis imperfecta, type III, COL1A1-related" NARROW []
synonym: "progressively deforming osteogenesis imperfecta with normal sclera" NARROW []
synonym: "progressively deforming osteogenesis imperfecta with normal sclerae" NARROW []
synonym: "SEVERE PROGRESSIVE DEFORMING RECESSIVE OSTEOGENESIS IMPERFECTA (TYPE III)" NARROW []
xref: GARD:8695
xref: ICD10CM:Q78.0
xref: MESH:C536044
xref: NCI:C99002
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110340
name: osteogenesis imperfecta type 4
alt_id: MIM:166220
alt_id: RDO:0001459
def: "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2745420 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2897363 "DO", PMID:2745420, PMID:2897363]
synonym: "OI4" EXACT []
synonym: "OI, type IV" EXACT []
synonym: "osteogenesis imperfecta, type III/IV" BROAD []
synonym: "osteogenesis imperfecta type IV" EXACT []
synonym: "osteogenesis imperfecta with normal sclera" EXACT []
synonym: "osteogenesis imperfecta with normal sclerae" EXACT []
xref: GARD:8696
xref: MESH:C536045
xref: NCI:C98576
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110341
name: osteogenesis imperfecta type 2
alt_id: MIM:166210
def: "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3722184 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6304100 "DO"]
synonym: "OI2" EXACT []
synonym: "OIC" EXACT []
synonym: "OI type 2" EXACT []
synonym: "OI type II" EXACT []
synonym: "osteogenesis imperfecta congenita" EXACT []
synonym: "osteogenesis imperfecta congenita, perinatal lethal form" EXACT []
synonym: "OSTEOGENESIS IMPERFECTA, RECESSIVE PERINATAL LETHAL" NARROW []
synonym: "Osteogenesis Imperfecta, Type 2A" EXACT []
synonym: "osteogenesis imperfecta type 2, thin-bone" EXACT []
synonym: "osteogenesis imperfecta, type II" EXACT []
synonym: "osteogenesis imperfecta, type IIA" EXACT []
synonym: "perinatal lethal osteogenesis imperfecta congenita" EXACT []
synonym: "Vrolik disease" EXACT []
synonym: "Vrolik type of osteogenesis imperfecta" EXACT []
xref: GARD:10142
xref: MESH:C536042
xref: NCI:C99001
xref: ORDO:216804
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110342
name: osteogenesis imperfecta type 13
alt_id: RDO:9000624
def: "An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22052668 "DO"]
synonym: "BMP1-RELATED CONDITION" EXACT []
synonym: "OI13" EXACT []
synonym: "OI, TYPE XIII" EXACT []
synonym: "osteogenesis imperfecta type XIII" EXACT []
xref: MIM:614856
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110343
name: osteogenesis imperfecta type 14
def: "An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23054245 "DO"]
synonym: "OI14" EXACT []
synonym: "OI, type XIV" EXACT []
synonym: "osteogenesis imperfecta type XIV" EXACT []
xref: MIM:615066
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110344
name: osteogenesis imperfecta type 5
alt_id: MIM:610967
def: "An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22863190 "DO"]
synonym: "OI5" EXACT []
synonym: "OI, TYPE V" EXACT []
synonym: "osteogenesis imperfecta type V" EXACT []
xref: GARD:8699
xref: MESH:C567042
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110345
name: osteogenesis imperfecta type 16
def: "An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24079343 "DO"]
synonym: "chromosome 11p11.2 deletion syndrome 91.3-KB" EXACT []
synonym: "OI16" EXACT []
synonym: "osteogenesis imperfecta type XVI" EXACT []
xref: MIM:616229
is_a: DOID:12347 ! osteogenesis imperfecta
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0110346
name: osteogenesis imperfecta type 10
alt_id: OMIA:001483
def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20188343 "DO"]
synonym: "OI10" EXACT []
synonym: "OI, type X" EXACT []
synonym: "osteogenesis imperfecta type X" EXACT []
xref: MIM:613848
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110347
name: osteogenesis imperfecta type 15
alt_id: RDO:9000869
def: "An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23499309 "DO"]
synonym: "OI15" EXACT []
synonym: "OI, TYPE XV" EXACT []
synonym: "osteogenesis imperfecta type XV" EXACT []
synonym: "WNT1-RELATED CONDITION" BROAD []
xref: MIM:615220
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110348
name: osteogenesis imperfecta type 12
alt_id: RDO:9000623
def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20579626 "DO"]
synonym: "OI12" EXACT []
synonym: "OI, TYPE XII" EXACT []
synonym: "Osteogenesis Imperfecta, Type XII" EXACT []
xref: MIM:613849
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110349
name: osteogenesis imperfecta type 9
alt_id: MIM:259440
def: "An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19781681 "DO"]
synonym: "OI9" EXACT []
synonym: "OI, Type IX" EXACT []
synonym: "Osteogenesis Imperfecta, Sillence Type II-III, Without Abnormality of Type I Collagen" EXACT []
synonym: "osteogenesis imperfecta type IX" EXACT []
synonym: "PPIB-RELATED CONDITION" EXACT []
xref: GARD:10619
xref: MESH:C564921
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110350
name: osteogenesis imperfecta type 6
alt_id: MIM:613982
def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21353196 "DO"]
synonym: "OI6" EXACT []
synonym: "OI, type VI" EXACT []
synonym: "osteogenesis imperfecta, type VI" EXACT []
xref: GARD:8700
xref: MESH:C536047
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110351
name: osteogenesis imperfecta type 11
alt_id: RDO:9000622
def: "An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20362275 "DO"]
synonym: "FKBP10-RELATED CONDITION" BROAD []
synonym: "OI11" EXACT []
synonym: "OI, TYPE XI" EXACT []
synonym: "osteogenesis imperfecta type XI" EXACT []
xref: MIM:610968
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0110352
name: retinitis pigmentosa 59
def: "A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21295283 "DO"]
synonym: "CDG1BB" RELATED []
synonym: "congenital disorder of glycosylation type 1BB" RELATED []
synonym: "congenital disorder of glycosylation type IBB" RELATED []
synonym: "DHDDS-RELATED CONDITION" BROAD []
synonym: "RETINITIS PIGMENTOSA TYPE 59" EXACT []
synonym: "RP59" EXACT []
xref: MIM:613861
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110353
name: retinitis pigmentosa 20
alt_id: MIM:613794
alt_id: RDO:0014993
def: "A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9326941 "DO"]
synonym: "RP20" EXACT []
synonym: "RPE65-RELATED DISORDER" BROAD []
xref: MESH:C566718
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110354
name: retinitis pigmentosa 19
alt_id: MIM:601718
def: "A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9425888 "DO"]
synonym: "RP19" EXACT []
xref: MESH:C566637
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110355
name: retinitis pigmentosa 32
alt_id: MIM:609913
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16189710 "DO"]
synonym: "RP32" EXACT []
xref: MESH:C563689
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110356
name: retinitis pigmentosa 18
alt_id: MIM:601414
alt_id: RDO:0012611
def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11773002 "DO"]
synonym: "RP18" EXACT []
xref: MESH:C563320
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110357
name: retinitis pigmentosa 35
alt_id: MIM:610282
alt_id: RDO:0013915
def: "A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16199541 "DO"]
synonym: "RP35" EXACT []
xref: MESH:C565206
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110358
name: retinitis pigmentosa 12
alt_id: MIM:600105
def: "A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10508521 "DO"]
synonym: "retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium" EXACT []
synonym: "RP12" EXACT []
synonym: "RP WITH OR WITHOUT PPRPE" EXACT []
synonym: "RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM" EXACT []
xref: MESH:C563999
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110359
name: retinitis pigmentosa 67
def: "A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24043777 "DO"]
synonym: "RP67" EXACT []
xref: MIM:615565
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110360
name: retinitis pigmentosa 39
def: "A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12427073 "DO"]
synonym: "RP39" EXACT []
synonym: "USH2A-RELATED CONDITION" BROAD []
synonym: "USH2A-RELATED DISORDER" BROAD []
xref: MIM:613809
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110361
name: retinitis pigmentosa 75
def: "A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26720455 "DO"]
synonym: "RP75" EXACT []
xref: MIM:617023
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110362
name: retinitis pigmentosa 58
def: "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20227676 "DO"]
synonym: "RP58" EXACT []
synonym: "ZNF513-RELATED CONDITION" EXACT []
xref: ICD10CM:H35.5
xref: MIM:613617
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110363
name: retinitis pigmentosa 71
def: "A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25168386 "DO"]
synonym: "RP71" EXACT []
xref: MIM:616394
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110364
name: retinitis pigmentosa 54
alt_id: OMIA:001575
def: "A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20398886 "DO"]
synonym: "CONE-ROD DYSTROPHY 23" RELATED []
synonym: "PCARE-RELATED CONDITION" BROAD []
synonym: "Rod-cone dysplasia 4" EXACT []
synonym: "RP54" EXACT []
xref: MIM:613428
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110365
name: retinitis pigmentosa 28
def: "A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20705278 "DO"]
synonym: "RETINITIS PIGMENTOSA TYPE 28" EXACT []
synonym: "RP28" EXACT []
xref: MIM:606068
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110366
name: retinitis pigmentosa 33
alt_id: MIM:610359
def: "A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19878916 "DO"]
synonym: "RP33" EXACT []
xref: MESH:C563676
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110367
name: retinitis pigmentosa 38
alt_id: OMIA:001932
alt_id: RDO:9000496
def: "A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11062461 "DO"]
synonym: "progressive retinal atrophy, MERTK-related" EXACT []
synonym: "ROD-CONE DYSTROPHY, CHILDHOOD-ONSET" EXACT []
synonym: "RP38" EXACT []
xref: MIM:613862
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110368
name: retinitis pigmentosa 26
alt_id: MIM:608380
alt_id: RDO:0013275
def: "A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14681825 "DO"]
synonym: "RETINITIS PIGMENTOSA TYPE 26" EXACT []
synonym: "RP26" EXACT []
xref: MESH:C564249
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110369
name: retinitis pigmentosa 47
def: "A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9565049 "DO"]
synonym: "RP47" EXACT []
xref: MIM:613758
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110370
name: retinitis pigmentosa 55
def: "A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19956407 "DO"]
synonym: "RP55" EXACT []
xref: MIM:613575
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110371
name: retinitis pigmentosa 56
def: "A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20673862 "DO"]
synonym: "RP56" EXACT []
xref: MIM:613581
xref: MONDO:0013314
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110372
name: retinitis pigmentosa 4
alt_id: MIM:613731
def: "A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2137202 "DO"]
synonym: "retinitis pigmentosa 4, autosomal recessive" NARROW []
synonym: "rhodopsin-related retinitis pigmentosa" EXACT []
synonym: "RP4" EXACT []
xref: MESH:C566706
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110373
name: retinitis pigmentosa 61
def: "A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21310491 "DO"]
synonym: "RP61" EXACT []
xref: MIM:614180
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110374
name: retinitis pigmentosa 68
def: "A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24670872 "DO"]
synonym: "RP68" EXACT []
xref: MIM:615725
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110375
name: retinitis pigmentosa 40
def: "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8394174 "DO"]
synonym: "PDE6B-RELATED CONDITION" BROAD []
synonym: "PDE6B-RELATED DISORDER" BROAD []
synonym: "Rod-cone dysplasia 1" EXACT []
synonym: "Rod-cone dysplasia 1a" EXACT []
synonym: "RP40" EXACT []
xref: MIM:613801
xref: MONDO:0013429
xref: OMIA:000882
xref: OMIA:001669
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110376
name: retinitis pigmentosa 41
alt_id: MIM:612095
def: "A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10587575 "DO"]
synonym: "Retinal Degeneration, Autosomal Recessive, Prominin-Related" EXACT []
synonym: "RP41" EXACT []
xref: MESH:C567422
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110377
name: retinitis pigmentosa 49
alt_id: OMIA:001977
def: "A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7479749 "DO"]
synonym: "progressive retinal atrophy, CNGA1-related" EXACT []
synonym: "progressive retinal atrophy, due to CNGA1" EXACT []
synonym: "RP49" EXACT []
xref: MIM:613756
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110378
name: retinitis pigmentosa 29
alt_id: MIM:612165
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11381043 "DO"]
synonym: "RP29" EXACT []
xref: MESH:C567403
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110379
name: retinitis pigmentosa 43
def: "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7493036 "DO"]
synonym: "Rod-cone dysplasia 3" EXACT []
synonym: "RP43" EXACT []
xref: MIM:613810
xref: MONDO:0013437
xref: OMIA:001314
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110380
name: retinitis pigmentosa 62
def: "A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21825139 "DO"]
synonym: "RP62" EXACT []
xref: MIM:614181
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110381
name: retinitis pigmentosa 14
alt_id: MIM:600132
alt_id: RDO:0013099
def: "A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9462751 "DO"]
synonym: "Retinitis Pigmentosa, Juvenile, TULP1-Related" EXACT []
synonym: "RP14" EXACT []
xref: MESH:C563992
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110382
name: retinitis pigmentosa 48
def: "A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15452722 "DO"]
synonym: "RP48" EXACT []
xref: MIM:613827
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110383
name: retinitis pigmentosa 7
alt_id: MESH:C564284
alt_id: MESH:C567263
alt_id: MESH:C567264
def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1749427 "DO"]
synonym: "LCA18" NARROW []
synonym: "Leber congenital amaurosis 18" NARROW []
synonym: "retinitis pigmentosa 7, digenic" EXACT []
synonym: "retinitis pigmentosa 7 with Bull's-eye maculopathy" EXACT []
synonym: "RP7" EXACT []
xref: MIM:608133
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080578 ! digenic disease
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:14791 ! Leber congenital amaurosis

[Term]
id: DOID:0110384
name: retinitis pigmentosa 25
alt_id: MIM:602772
def: "A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18836446 "DO"]
synonym: "EYS-RELATED CONDITION" EXACT []
synonym: "retinitis pigmentosa type 25" EXACT []
synonym: "RP25" EXACT []
xref: MESH:C566425
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110385
name: retinitis pigmentosa 63
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22083234 "DO"]
synonym: "RP63" EXACT []
xref: MIM:614494
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:0110386
name: retinitis pigmentosa 42
alt_id: MIM:612943
def: "A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19520207 "DO"]
synonym: "KLHL7-RELATED CONDITION" BROAD []
synonym: "RP42" EXACT []
xref: MESH:C567854
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110387
name: retinitis pigmentosa 9
alt_id: MIM:180104
def: "A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12032732 "DO"]
synonym: "RP9" EXACT []
xref: MESH:C566716
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110388
name: retinitis pigmentosa 10
alt_id: MIM:180105
alt_id: RDO:0014990
def: "A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11875050 "DO"]
synonym: "IMPDH1-RELATED CONDITION" BROAD []
synonym: "RP10" EXACT []
xref: MESH:C566715
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110389
name: retinitis pigmentosa 73
def: "A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25859010 "DO"]
synonym: "RP73" EXACT []
xref: MIM:616544
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110390
name: retinitis pigmentosa 1
alt_id: MIM:180100
def: "A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10391211 "DO"]
synonym: "RP1" EXACT []
synonym: "RP1-RELATED RETINAL DYSTROPHY" EXACT []
xref: MESH:C538365
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110391
name: retinitis pigmentosa 31
alt_id: MIM:609923
def: "A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17924349 "DO"]
synonym: "RP31" EXACT []
synonym: "TOPORS-RELATED CONDITION" EXACT []
xref: MESH:C563685
xref: RDO:0012878
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110392
name: retinitis pigmentosa 70
alt_id: RDO:9001537
def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24419317 "DO"]
synonym: "RP70" EXACT []
xref: MIM:615922
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110393
name: retinitis pigmentosa 66
def: "A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19074801 "DO"]
synonym: "RP66" EXACT []
xref: MIM:615233
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110394
name: retinitis pigmentosa 44
def: "A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10581022 "DO"]
synonym: "RP44" EXACT []
xref: MIM:613769
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110395
name: retinitis pigmentosa 72
def: "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25882705 "DO"]
synonym: "RP72" EXACT []
xref: MIM:616469
xref: MONDO:0014653
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110396
name: retinitis pigmentosa 50
alt_id: MIM:613194
def: "A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19853238 "DO"]
synonym: "concentric retinitis pigmentosa" NARROW []
synonym: "RP50" EXACT []
xref: MESH:C567712
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110397
name: retinitis pigmentosa 27
alt_id: MIM:613750
def: "A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10192380 "DO"]
synonym: "autosomal recessive retinal degeneration, clumped pigment type" NARROW []
synonym: "RP27" EXACT []
xref: MESH:C563526
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110398
name: retinitis pigmentosa 51
def: "A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20451172 "DO"]
synonym: "RP51" EXACT []
synonym: "TTC8-RELATED CONDITION" BROAD []
xref: MIM:613464
xref: MONDO:0013274
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110399
name: retinitis pigmentosa 37
def: "A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17564971 "DO"]
synonym: "NR2E3-RELATED CONDITION" BROAD []
synonym: "NR2E3-RELATED DISORDER" BROAD []
synonym: "NR2E3-RELATED DISORDERS" BROAD []
synonym: "RP37" EXACT []
xref: MESH:C567005
xref: MIM:611131
xref: MONDO:0012625
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110400
name: retinitis pigmentosa 22
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9545639 "DO"]
synonym: "RP22" EXACT []
xref: MIM:602594
xref: RDO:0016050
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110401
name: retinitis pigmentosa 74
def: "A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25541840 "DO"]
synonym: "BBS2-RELATED CONDITION" BROAD []
synonym: "BBS2-RELATED DISORDER" BROAD []
synonym: "BBS2-RELATED DISORDERS" BROAD []
synonym: "BCL11B-RELATED CONDITION" BROAD []
synonym: "RP74" EXACT []
xref: MIM:616562
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110402
name: retinitis pigmentosa 45
def: "A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11379879 "DO"]
synonym: "RP45" EXACT []
xref: MIM:613767
xref: MONDO:0013413
xref: OMIA:000830
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110403
name: retinitis pigmentosa 13
alt_id: MIM:600059
def: "A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11468273 "DO"]
synonym: "RP13" EXACT []
xref: MESH:C564008
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110404
name: retinitis pigmentosa 17
alt_id: MIM:600852
def: "A retinitis pigmentosa that has_material_basis_in mutation in the CA4 gene on chromosome 17q23.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15090652 "DO"]
synonym: "RP17" EXACT []
xref: MESH:C563437
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110405
name: retinitis pigmentosa 36
def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16938425 "DO"]
synonym: "RP36" EXACT []
xref: MESH:C566431
xref: MIM:610599
xref: OMIA:001298
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110406
name: retinitis pigmentosa 30
alt_id: MIM:607921
def: "A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14609921 "DO"]
synonym: "MACULAR DEGENERATION" NARROW []
synonym: "RP30" EXACT []
xref: MESH:C564310
xref: RDO:0013319
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110407
name: retinitis pigmentosa 57
def: "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20655036 "DO"]
synonym: "PDE6G retinitis pigmentosa" EXACT []
synonym: "RP57" EXACT []
xref: MIM:613582
xref: MONDO:0013315
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110408
name: retinitis pigmentosa 11
alt_id: MIM:600138
alt_id: RDO:0013098
def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11545739 "DO"]
synonym: "RP11" EXACT []
xref: MESH:C563991
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110409
name: retinitis pigmentosa 46
alt_id: MIM:612572
def: "A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18806796 "DO"]
synonym: "autosomal recessive retinitis pigmentosa, IDH3B-related" EXACT []
synonym: "RP46" EXACT []
xref: MESH:C567249
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110410
name: retinitis pigmentosa 69
def: "A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24680887 "DO"]
synonym: "RP69" EXACT []
xref: MIM:615780
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110411
name: retinitis pigmentosa 60
def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21549338 "DO"]
synonym: "RP60" EXACT []
xref: MIM:613983
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110412
name: retinitis pigmentosa 23
alt_id: RDO:0016049
def: "A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22619378 "DO"]
synonym: "RP23" EXACT []
xref: MIM:300424
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110413
name: retinitis pigmentosa 6
alt_id: MIM:312612
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2300556 "DO"]
synonym: "Retinitis Pigmentosa, X-Linked Recessive, 6" EXACT []
synonym: "RP6" EXACT []
xref: MESH:C564065
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110414
name: retinitis pigmentosa 3
alt_id: MIM:300029
alt_id: OMIA:000831
alt_id: OMIA:001518
def: "A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8673101 "DO"]
synonym: "choroidoretinal degeneration with retinal reflex in heterozygous women" EXACT []
synonym: "Progressive retinal atrophy, X-linked, type 1" EXACT []
synonym: "Progressive retinal atrophy, X-linked, type 2" EXACT []
synonym: "retinitis pigmentosa 15" EXACT []
synonym: "RP15" EXACT []
synonym: "RP3" EXACT []
synonym: "X-linked cone-rod degeneration" EXACT []
xref: GARD:10381
xref: MESH:C564520
xref: MONDO:0010227
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110415
name: retinitis pigmentosa 2
alt_id: MIM:312600
def: "A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9697692 "DO"]
synonym: "RP2" EXACT []
xref: MESH:C567523
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110416
name: retinitis pigmentosa 24
alt_id: RDO:0016048
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10690843 "DO"]
synonym: "RP24" EXACT []
xref: MIM:300155
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110417
name: retinitis pigmentosa 34
alt_id: MIM:300605
def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16740911 "DO"]
synonym: "RP34" EXACT []
xref: MESH:C564475
xref: RDO:0013423
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110418
name: retinitis pigmentosa Y-linked
alt_id: MIM:400004
def: "A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7493160 "DO"]
synonym: "RPY" EXACT []
xref: MESH:C564035
is_a: DOID:0050738 ! Y-linked monogenic disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110419
name: retinitis pigmentosa with or without situs inversus
def: "A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23849777 "DO"]
synonym: "ARL2BP-RELATED CONDITION" EXACT []
synonym: "retinitis pigmentosa 82" EXACT []
synonym: "retinitis pigmentosa 82 with or without situs inversus" EXACT []
synonym: "retinitis pigmentosa without situs inversus" NARROW []
synonym: "RP82" EXACT []
xref: MIM:615434
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:758 ! situs inversus

[Term]
id: DOID:0110420
name: dominant pericentral pigmentary retinopathy
alt_id: MIM:180210
def: "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3618160 "DO"]
xref: MESH:C566713
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:8499 ! night blindness
is_a: DOID:8501 ! fundus dystrophy

[Term]
id: DOID:0110421
name: late-adult onset retinitis pigmentosa
alt_id: MIM:268025
alt_id: RDO:0013665
def: "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1424244 "DO"]
synonym: "senile retinitis pigmentosa" EXACT []
xref: MESH:C564840
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:9007801 ! Diseases of the Aged

[Term]
id: DOID:0110422
name: autosomal recessive pericentral pigmentary retinopathy
alt_id: MIM:268060
def: "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3189470 "DO"]
synonym: "pericentral retinitis pigmentosa" EXACT []
xref: MESH:C564838
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0110423
name: dilated cardiomyopathy 1C
alt_id: MIM:601493
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14662268 "DO"]
synonym: "CMD1C" EXACT []
synonym: "CMDC1" EXACT []
synonym: "CMH24" RELATED []
synonym: "dilated cardiomyopathy 1C with or without left ventricular noncompaction" EXACT []
synonym: "familial hypertrophic cardiomyopathy 24" RELATED []
synonym: "LDB3-RELATED CONDITION" BROAD []
synonym: "left ventricular noncompaction 3" RELATED []
synonym: "LVNC3" RELATED []
xref: MESH:C563307
xref: NCI:C170436
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110424
name: dilated cardiomyopathy 1CC
alt_id: MIM:613122
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19881492 "DO"]
synonym: "CMD1CC" EXACT []
synonym: "NEXN-RELATED CONDITION" BROAD []
xref: MESH:C567733
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110425
name: dilated cardiomyopathy 1A
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10580070 "DO"]
synonym: "CDCD1" EXACT []
synonym: "CMD1A" EXACT []
synonym: "dilated cardiomyopathy, LMNA" EXACT []
synonym: "dilated cardiomyopathy with conduction defect 1" EXACT []
synonym: "familial dilated cardiomyopathy with conduction defect due to LMNA mutation" EXACT []
xref: MIM:115200
xref: NCI:C165596
xref: ORDO:300751
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy
is_a: DOID:9006138 ! Laminopathies
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:0110426
name: dilated cardiomyopathy 1D
alt_id: MIM:601494
alt_id: RDO:0012603
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11106718 "DO"]
synonym: "CMD1D" EXACT []
synonym: "LEFT VENTRICULAR NONCOMPACTION 6" NARROW []
synonym: "LVNC6" NARROW []
xref: MESH:C563306
xref: NCI:C198599
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110427
name: dilated cardiomyopathy 1V
alt_id: MIM:613697
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17186461 "DO"]
synonym: "CMD1V" EXACT []
xref: MESH:C566856
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110428
name: dilated cardiomyopathy 1AA
alt_id: MIM:612158
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14567970 "DO"]
synonym: "CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION" EXACT []
synonym: "CMD1AA" EXACT []
synonym: "CMH23" NARROW []
synonym: "familial hypertrophic cardiomyopathy 23" NARROW []
synonym: "familial hypertrophic cardiomyopathy 23 with or without ventricular noncompaction" NARROW []
xref: MESH:C567407
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110429
name: dilated cardiomyopathy 1H
alt_id: MIM:604288
def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10486326 "DO"]
synonym: "CMD1H" EXACT []
synonym: "dilated cardiomyopathy with conduction defect" EXACT []
xref: MESH:C536277
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110430
name: dilated cardiomyopathy 1G
alt_id: MIM:604145
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11788824 "DO"]
synonym: "CMD1G" EXACT []
xref: MESH:C565824
xref: NCI:C182078
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110431
name: dilated cardiomyopathy 1I
alt_id: MIM:604765
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10430757 "DO"]
synonym: "CMD1I" EXACT []
xref: MESH:C565752
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110432
name: dilated cardiomyopathy 1NN
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24777450 "DO"]
synonym: "CMD1NN" EXACT []
xref: MIM:615916
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110433
name: dilated cardiomyopathy 1E
alt_id: MIM:601154
alt_id: RDO:0012654
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15466643 "DO"]
synonym: "Cardiomyopathy, Dilated, with Conduction Disorder and Arrhythmia" EXACT []
synonym: "CDCD2" EXACT []
synonym: "CMD1E" EXACT []
synonym: "dilated cardiomyopathy with conduction defect 2" EXACT []
xref: MESH:C563384
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110434
name: dilated cardiomyopathy 1Z
alt_id: MIM:611879
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15542288 "DO"]
synonym: "CMD1Z" EXACT []
xref: MESH:C567506
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110435
name: dilated cardiomyopathy 1GG
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20551992 "DO"]
synonym: "CMD1GG" EXACT []
xref: MIM:613642
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:0110436
name: dilated cardiomyopathy 1L
alt_id: MIM:606685
def: "A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10974018 "DO"]
synonym: "CMD1L" EXACT []
xref: MESH:C564679
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110437
name: dilated cardiomyopathy 1K
alt_id: MIM:605582
def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11085912 "DO"]
synonym: "CMD1K" EXACT []
xref: MESH:C565320
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110438
name: dilated cardiomyopathy 1JJ
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17646580 "DO"]
synonym: "CMD1JJ" EXACT []
synonym: "LAMA4-RELATED CONDITION" EXACT []
xref: MIM:615235
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110439
name: dilated cardiomyopathy 1P
alt_id: MIM:609909
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12610310 "DO"]
synonym: "CMD1P" EXACT []
xref: MESH:C563690
xref: NCI:C173625
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110440
name: dilated cardiomyopathy 1J
alt_id: MIM:605362
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15735644 "DO"]
synonym: "CMD1J" EXACT []
synonym: "dilated cardiomyopathy with sensorineural hearing loss, autosomal dominant" EXACT []
synonym: "EYA4-related disorder" BROAD []
synonym: "EYA4-related disorders" BROAD []
synonym: "neurosensory deafness with dilated cardiomyopathy" EXACT []
synonym: "neurosensory hearing loss with dilated cardiomyopathy" EXACT []
synonym: "sensorineural deafness with dilated cardiomyopathy" EXACT []
synonym: "sensorineural hearing loss with dilated cardiomyopathy" EXACT []
xref: MESH:C565337
xref: ORDO:217622
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110441
name: dilated cardiomyopathy 2B
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21965549 "DO"]
synonym: "CMD2B" EXACT []
xref: MIM:614672
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110442
name: dilated cardiomyopathy 1Q
alt_id: MIM:609915
def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16228230 "DO"]
synonym: "CMD1Q" EXACT []
xref: MESH:C563688
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110443
name: dilated cardiomyopathy 1B
alt_id: MIM:600884
def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7573045 "DO"]
synonym: "CMD1B" EXACT []
synonym: "CMPD1" EXACT []
synonym: "familial dilated cardiomyopathy 1" EXACT []
synonym: "familial hypokinetic dilated cardiomyopathy" EXACT []
synonym: "FDC1" EXACT []
xref: MESH:C536231
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110444
name: dilated cardiomyopathy 1X
alt_id: MIM:611615
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17036286 "DO"]
synonym: "CMD1X" EXACT []
synonym: "dilated cardiomyopathy, with mild or no proximal muscle weakness" EXACT []
xref: MESH:C566907
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110445
name: dilated cardiomyopathy 1KK
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18006477 "DO"]
synonym: "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22" RELATED []
synonym: "CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4" RELATED []
synonym: "CMD1KK" EXACT []
synonym: "CMH22" RELATED []
synonym: "MYPN-RELATED CONDITION" BROAD []
synonym: "RCM4" RELATED []
xref: MIM:615248
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110446
name: dilated cardiomyopathy 1W
alt_id: MIM:611407
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11815424 "DO"]
synonym: "CMD1W" EXACT []
synonym: "VCL-RELATED CONDITION" BROAD []
xref: MESH:C566954
xref: NCI:C187983
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110447
name: dilated cardiomyopathy 1DD
alt_id: MIM:613172
alt_id: RDO:0015714
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19712804 "DO"]
synonym: "CMD1DD" EXACT []
synonym: "RBM20-RELATED CONDITION" EXACT []
xref: MESH:C567725
xref: NCI:C174435
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110448
name: dilated cardiomyopathy 1HH
alt_id: RDO:9000821
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21353195 "DO"]
synonym: "BAG3-RELATED CONDITION" BROAD []
synonym: "CMD1HH" EXACT []
xref: MIM:613881
xref: NCI:C192082
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110449
name: dilated cardiomyopathy 1M
alt_id: MIM:607482
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12507422 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14567970 "DO"]
synonym: "CMD1M" EXACT []
synonym: "CSRP3-RELATED DISORDER" BROAD []
xref: MESH:C564390
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110450
name: dilated cardiomyopathy 1II
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16483541 "DO"]
synonym: "CMD1II" EXACT []
xref: MIM:615184
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110451
name: dilated cardiomyopathy 1O
alt_id: MIM:608569
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15034580 "DO"]
synonym: "CMD1O" EXACT []
synonym: "dilated cardiomyopathy with ventricular tachycardia" EXACT []
xref: MESH:C563906
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110452
name: dilated cardiomyopathy 1T
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16247757 "DO"]
synonym: "CMD1T" EXACT []
xref: MESH:C566052
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110453
name: dilated cardiomyopathy 1EE
alt_id: MIM:613252
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15998695 "DO"]
synonym: "CMD1EE" EXACT []
xref: MESH:C567683
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110454
name: dilated cardiomyopathy 1S
alt_id: MIM:613426
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11106718 "DO"]
synonym: "biventricular noncompaction cardiomyopathy" NARROW []
synonym: "CMD1S" EXACT []
synonym: "left ventricular noncompaction 5" RELATED []
synonym: "LVNC5" RELATED []
xref: ICD10CM:I42.0
xref: MESH:C563538
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060480 ! left ventricular noncompaction
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110455
name: dilated cardiomyopathy 1U
alt_id: MIM:613694
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17186461 "DO"]
synonym: "CMD1U" EXACT []
xref: MESH:C566296
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110456
name: dilated cardiomyopathy 1R
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17611253 "DO"]
synonym: "CMD1R" EXACT []
xref: MIM:613424
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:0110457
name: dilated cardiomyopathy 1Y
alt_id: MIM:611878
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11273725 "DO"]
synonym: "CMD1Y" EXACT []
synonym: "LEFT VENTRICULAR NONCOMPACTION 9" NARROW []
synonym: "LVNC9" NARROW []
synonym: "TPM1-RELATED CONDITION" BROAD []
xref: MESH:C567507
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110458
name: dilated cardiomyopathy 1BB
alt_id: MIM:612877
def: "A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18678517 "DO"]
synonym: "CMD1BB" EXACT []
synonym: "DSG2-RELATED CONDITION" BROAD []
synonym: "familial isolated dilated cardiomyopathy" EXACT []
xref: MESH:C567877
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110459
name: dilated cardiomyopathy 1FF
alt_id: MIM:613286
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19590045 "DO"]
synonym: "CMD1FF" EXACT []
xref: MESH:C567654
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110460
name: dilated cardiomyopathy 2A
alt_id: MIM:611880
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15070570 "DO"]
synonym: "CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE" EXACT []
synonym: "CMD2A" EXACT []
synonym: "dilated cardiomyopathy, autosomal recessive" NARROW []
xref: MESH:C567505
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110461
name: X-linked dilated cardiomyopathy
alt_id: DOID:0060561
alt_id: DOID:0081164
alt_id: MIM:302045
def: "A dilated cardiomyopathy that has_material_basis_in mutation in the DMD gene encoding dystrophin on chromosome Xp21, without skeletal muscle weakness or wasting. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-dilated-cardiomyopathy#synonyms "DO", https://pubmed.ncbi.nlm.nih.gov/29901616/ "DO", https://pubmed.ncbi.nlm.nih.gov/3574369/ "DO", https://pubmed.ncbi.nlm.nih.gov/8361506/ "DO"]
synonym: "CMD3B" EXACT []
synonym: "dilated cardiomyopathy 3B" EXACT []
synonym: "DMD-associated dilated cardiomyopathy" EXACT []
synonym: "DMD-related dilated cardiomyopathy" EXACT []
synonym: "XLCM" EXACT []
xref: MESH:C580047
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:0110462
name: autosomal recessive nonsyndromic deafness 101
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24619944 "DO"]
synonym: "autosomal recessive deafness 101" EXACT []
synonym: "DFNB101" EXACT []
xref: MIM:615837
xref: RDO:9001425
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110463
name: autosomal recessive nonsyndromic deafness 102
alt_id: RDO:9001426
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24741995 "DO"]
synonym: "autosomal recessive deafness 102" EXACT []
synonym: "DFNB102" EXACT []
xref: MIM:615974
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110464
name: autosomal recessive nonsyndromic deafness 103
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24781754 "DO"]
synonym: "autosomal recessive deafness 103" EXACT []
synonym: "DFNB103" EXACT []
xref: MIM:616042
xref: RDO:9001427
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110465
name: autosomal recessive nonsyndromic deafness 104
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24958875 "DO"]
synonym: "autosomal recessive deafness 104" EXACT []
synonym: "DFNB104" EXACT []
synonym: "RIPOR2-RELATED CONDITION" BROAD []
xref: MIM:616515
xref: MONDO:0014675
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110467
name: autosomal recessive nonsyndromic deafness 12
alt_id: MIM:601386
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11090341 "DO"]
synonym: "ATP2B2-RELATED DISORDER" BROAD []
synonym: "autosomal recessive deafness 12" EXACT []
synonym: "autosomal recessive deafness 12, modifier of" RELATED []
synonym: "DFNB12" EXACT []
xref: MESH:C563327
xref: NCI:C201586
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110468
name: autosomal recessive nonsyndromic deafness 13
alt_id: MIM:603098
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9781028 "DO"]
synonym: "autosomal recessive deafness 13" EXACT []
synonym: "DFNB13" EXACT []
xref: MESH:C566410
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110469
name: autosomal recessive nonsyndromic deafness 14
alt_id: MIM:603678
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9887371 "DO"]
synonym: "autosomal recessive deafness 14" EXACT []
synonym: "DFNB14" EXACT []
xref: MESH:C566344
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110470
name: autosomal recessive nonsyndromic deafness 15
alt_id: MIM:601869
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21326233 "DO"]
synonym: "autosomal recessive deafness 15" EXACT []
synonym: "autosomal recessive deafness 72" EXACT []
synonym: "autosomal recessive deafness 95" EXACT []
synonym: "DFMB15" EXACT []
synonym: "DFNB15" EXACT []
synonym: "DFNB72" EXACT []
synonym: "DFNB95" EXACT []
xref: MESH:C566611
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110471
name: autosomal recessive nonsyndromic deafness 16
alt_id: MIM:603720
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11687802 "DO"]
synonym: "autosomal recessive deafness 16" EXACT []
synonym: "DFNB16" EXACT []
synonym: "STRC-RELATED CONDITION" EXACT []
xref: MESH:C566339
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110472
name: autosomal recessive nonsyndromic deafness 17
alt_id: MIM:603010
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15293785 "DO"]
synonym: "autosomal recessive deafness 17" EXACT []
synonym: "DFNB17" EXACT []
xref: MESH:C566418
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110473
name: autosomal recessive nonsyndromic deafness 18A
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12136232 "DO"]
synonym: "autosomal recessive deafness 18A" EXACT []
synonym: "DFNB18A" EXACT []
xref: MESH:C566580
xref: MIM:602092
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
is_a: DOID:9005581 ! Autosomal Recessive Nonsyndromic Deafness 18

[Term]
id: DOID:0110474
name: autosomal recessive nonsyndromic deafness 18B
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23122587 "DO"]
synonym: "autosomal recessive deafness 18B" EXACT []
synonym: "DFNB18B" EXACT []
synonym: "OTOG-RELATED CONDITION" EXACT []
xref: MIM:614945
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
is_a: DOID:9005581 ! Autosomal Recessive Nonsyndromic Deafness 18

[Term]
id: DOID:0110475
name: autosomal recessive nonsyndromic deafness 1A
alt_id: MIM:220290
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9139825 "DO"]
synonym: "autosomal recessive deafness 1A" EXACT []
synonym: "AUTOSOMAL RECESSIVE DEAFNESS TYPE 1A" EXACT []
synonym: "DEAFNESS, DIGENIC, GJB2/GJB3" NARROW []
synonym: "DEAFNESS, DIGENIC, GJB2/GJB6" NARROW []
synonym: "DFNB1A" EXACT []
xref: MESH:C567134
xref: NCI:C129022
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
is_a: DOID:0080578 ! digenic disease

[Term]
id: DOID:0110476
name: autosomal recessive nonsyndromic deafness 1B
alt_id: MIM:612645
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11807148 "DO"]
synonym: "autosomal recessive deafness 1B" EXACT []
synonym: "DFNB1B" EXACT []
xref: MESH:C567213
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110477
name: autosomal recessive nonsyndromic deafness 2
alt_id: MIM:600060
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9171833 "DO"]
synonym: "autosomal recessive deafness 2" EXACT []
synonym: "DFNB2" EXACT []
synonym: "Neurosensory Nonsyndromic Recessive Deafness 2" EXACT []
synonym: "NSRD2" EXACT []
xref: MESH:C564007
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110478
name: autosomal recessive nonsyndromic deafness 20
alt_id: MIM:604060
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10196710 "DO"]
synonym: "autosomal recessive deafness 20" EXACT []
synonym: "DFNB20" EXACT []
xref: MESH:C565828
xref: RDO:0014366
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110479
name: autosomal recessive nonsyndromic deafness 21
alt_id: MIM:603629
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9949200 "DO"]
synonym: "autosomal recessive deafness 21" EXACT []
synonym: "DEAFNESS, NEUROSENSORY AUTOSOMAL RECESSIVE 21" EXACT []
synonym: "DFNB21" EXACT []
synonym: "TECTA-RELATED CONDITION" BROAD []
xref: MESH:C566353
xref: RDO:0014731
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110480
name: autosomal recessive nonsyndromic deafness 22
alt_id: MIM:607039
alt_id: RDO:0013526
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11972037 "DO"]
synonym: "autosomal recessive deafness 22" EXACT []
synonym: "DFNB22" EXACT []
synonym: "OTOA-RELATED CONDITION" EXACT []
xref: MESH:C564633
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110481
name: autosomal recessive nonsyndromic deafness 23
alt_id: MIM:609533
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14570705 "DO"]
synonym: "autosomal recessive deafness 23" EXACT []
synonym: "DFNB23" EXACT []
xref: MESH:C563705
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110482
name: autosomal recessive nonsyndromic deafness 24
alt_id: MIM:611022
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17226784 "DO"]
synonym: "autosomal recessive deafness 24" EXACT []
synonym: "DFNB24" EXACT []
xref: MESH:C567027
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110483
name: autosomal recessive nonsyndromic deafness 25
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20137778 "DO"]
synonym: "autosomal recessive deafness 25" EXACT []
synonym: "DFNB25" EXACT []
xref: MIM:613285
xref: RDO:0009805
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110484
name: autosomal recessive nonsyndromic deafness 26
alt_id: MIM:605428
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11101839 "DO"]
synonym: "autosomal recessive deafness 26" EXACT []
synonym: "DFNB26" EXACT []
xref: MESH:C565329
xref: RDO:0013999
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110485
name: autosomal recessive nonsyndromic deafness 27
alt_id: MIM:605818
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11175289 "DO"]
synonym: "autosomal recessive deafness 27" EXACT []
synonym: "DFNB27" EXACT []
xref: MESH:C565287
xref: RDO:0013967
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110486
name: autosomal recessive nonsyndromic deafness 28
alt_id: MIM:609823
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16385458 "DO"]
synonym: "autosomal recessive deafness 28" EXACT []
synonym: "DFNB28" EXACT []
synonym: "TRIOBP-RELATED CONDITION" EXACT []
xref: MESH:C565218
xref: NCI:C129023
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110487
name: autosomal recessive nonsyndromic deafness 29
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11163249 "DO"]
synonym: "autosomal recessive deafness 29" EXACT []
synonym: "DFNB29" EXACT []
xref: MIM:614035
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110488
name: autosomal recessive nonsyndromic deafness 3
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17851452 "DO"]
synonym: "autosomal recessive deafness 3" EXACT []
synonym: "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3" EXACT []
synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 3" EXACT []
synonym: "DFNB3" EXACT []
synonym: "MYO15A-RELATED CONDITION" EXACT []
synonym: "Neurosensory Nonsyndromic Recessive Deafness 3" EXACT []
synonym: "NRSD3" EXACT []
synonym: "NSRD3" EXACT []
xref: MESH:C563961
xref: MIM:600316
xref: MONDO:0010860
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110489
name: autosomal recessive nonsyndromic deafness 30
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12032315 "DO"]
synonym: "autosomal recessive deafness 30" EXACT []
synonym: "DFNB30" EXACT []
synonym: "MYO3A-RELATED CONDITION" EXACT []
xref: MESH:C564624
xref: MIM:607101
xref: MONDO:0011774
xref: ORDO:90636
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110490
name: autosomal recessive nonsyndromic deafness 31
alt_id: MIM:607084
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833159 "DO"]
synonym: "autosomal recessive deafness 31" EXACT []
synonym: "DFNB31" EXACT []
synonym: "Whirler, Mouse, Homolog Of" EXACT []
xref: MESH:C564629
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110491
name: autosomal recessive nonsyndromic deafness 32
alt_id: DOID:0110466
alt_id: MIM:608653
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27259055/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/12634867 "DO"]
synonym: "autosomal recessive deafness 105" EXACT []
synonym: "autosomal recessive deafness 32" EXACT []
synonym: "autosomal recessive deafness 32, with or without immotile sperm" EXACT []
synonym: "autosomal recessive nonsyndromic deafness 105" EXACT []
synonym: "DFNB105" EXACT []
synonym: "DFNB32" EXACT []
synonym: "hearing impairment infertile male syndrome" EXACT []
synonym: "HIIMS" EXACT []
xref: MESH:C563884
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110492
name: autosomal recessive nonsyndromic deafness 33
alt_id: MIM:607239
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12080392 "DO"]
synonym: "autosomal recessive deafness 33" EXACT []
synonym: "DFNB33" EXACT []
xref: MESH:C564602
xref: RDO:0013505
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110493
name: autosomal recessive nonsyndromic deafness 35
alt_id: MIM:608565
def: "An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18179891 "DO"]
synonym: "autosomal recessive deafness 35" EXACT []
synonym: "DFNB35" EXACT []
xref: MESH:C563908
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110494
name: autosomal recessive nonsyndromic deafness 36
alt_id: MESH:C567219
alt_id: MIM:609006
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15286153 "DO"]
synonym: "autosomal recessive deafness 36" EXACT []
synonym: "autosomal recessive deafness 36, with or without vestibular involvement" EXACT []
synonym: "autosomal recessive deafness 36, without vestibular involvement" EXACT []
synonym: "DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT" RELATED []
synonym: "DFNB36" EXACT []
xref: MESH:C563815
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110495
name: autosomal recessive nonsyndromic deafness 37
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12687499 "DO"]
synonym: "autosomal recessive deafness 37" EXACT []
synonym: "DFNB37" EXACT []
synonym: "MYO6-RELATED CONDITION" BROAD []
xref: MESH:C564331
xref: MIM:607821
xref: MONDO:0011912
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110496
name: autosomal recessive nonsyndromic deafness 38
alt_id: MIM:608219
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12890929 "DO"]
synonym: "autosomal recessive deafness 38" EXACT []
synonym: "DFNB38" EXACT []
xref: MESH:C564273
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110497
name: autosomal recessive nonsyndromic deafness 39
alt_id: MIM:608265
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19576567 "DO"]
synonym: "autosomal recessive deafness 39" EXACT []
synonym: "DFNB39" EXACT []
xref: MESH:C564265
xref: NCI:C129874
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110498
name: autosomal recessive nonsyndromic deafness 4
alt_id: MIM:600791
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9500541 "DO"]
synonym: "autosomal recessive deafness 4" EXACT []
synonym: "autosomal recessive deafness 4 with enlarged vestibular aqueduct" NARROW []
synonym: "DFNB4" EXACT []
synonym: "dilated vestibular aqueduct" NARROW []
synonym: "DVA" NARROW []
synonym: "ENLARGED VESTIBULAR AQUEDUCT SYNDROME" EXACT []
synonym: "KCNJ10-related disorder" BROAD []
synonym: "KCNJ10-related disorders" BROAD []
synonym: "neurosensory nonsyndromic recessive deafness 4" EXACT []
synonym: "NSRD4" EXACT []
synonym: "SLC26A4-RELATED CONDITION" BROAD []
synonym: "SLC26A4-RELATED DISORDER" BROAD []
xref: MESH:C566366
is_a: DOID:0050332 ! enlarged vestibular aqueduct
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110499
name: autosomal recessive nonsyndromic deafness 40
alt_id: MIM:608264
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14512974 "DO"]
synonym: "autosomal recessive deafness 40" EXACT []
synonym: "DFNB40" EXACT []
xref: MESH:C564266
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110500
name: autosomal recessive nonsyndromic deafness 42
alt_id: MIM:609646
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21255762 "DO"]
synonym: "autosomal recessive deafness 42" EXACT []
synonym: "DFNB42" EXACT []
synonym: "ILDR1-RELATED CONDITION" EXACT []
xref: MESH:C566460
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110501
name: autosomal recessive nonsyndromic deafness 44
alt_id: MIM:610154
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482543 "DO"]
synonym: "autosomal recessive deafness 44" EXACT []
synonym: "DFNB44" EXACT []
xref: MESH:C565716
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110502
name: autosomal recessive nonsyndromic deafness 45
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18325041 "DO"]
synonym: "autosomal recessive deafness 45" EXACT []
synonym: "DFNB45" EXACT []
xref: MIM:612433
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110503
name: autosomal recessive nonsyndromic deafness 46
alt_id: MIM:609647
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15637723 "DO"]
synonym: "autosomal recessive deafness 46" EXACT []
synonym: "DFNB46" EXACT []
xref: MESH:C566459
xref: RDO:0014806
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110504
name: autosomal recessive nonsyndromic deafness 47
alt_id: MIM:609946
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16261342 "DO"]
synonym: "autosomal recessive deafness 47" EXACT []
synonym: "DFNB47" EXACT []
xref: MESH:C566498
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110505
name: autosomal recessive nonsyndromic deafness 48
alt_id: MIM:609439
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23023331 "DO"]
synonym: "autosomal recessive deafness 48" EXACT []
synonym: "DFNB48" EXACT []
xref: MESH:C563720
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110506
name: autosomal recessive nonsyndromic deafness 49
alt_id: MIM:610153
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18084694 "DO"]
synonym: "autosomal recessive deafness 49" EXACT []
synonym: "DFNB49" EXACT []
synonym: "neurosensory deafness, autosomal recessive 49" EXACT []
xref: MESH:C565717
xref: NCI:C129024
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110507
name: autosomal recessive nonsyndromic deafness 5
alt_id: MIM:600792
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8944017 "DO"]
synonym: "autosomal recessive deafness 5" EXACT []
synonym: "DFNB5" EXACT []
synonym: "neurosensory nonsyndromic recessive deafness 5" EXACT []
synonym: "NSRD5" EXACT []
xref: MESH:C563444
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110508
name: autosomal recessive nonsyndromic deafness 51
alt_id: MIM:609941
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16158433 "DO"]
synonym: "autosomal recessive deafness 51" EXACT []
synonym: "DFNB51" EXACT []
xref: MESH:C538202
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
is_a: DOID:0060140 ! cortical deafness

[Term]
id: DOID:0110509
name: autosomal recessive nonsyndromic deafness 53
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16033917 "DO"]
synonym: "autosomal recessive deafness 53" EXACT []
synonym: "DFNB53" EXACT []
xref: MESH:C566453
xref: MIM:609706
xref: MONDO:0012333
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110510
name: autosomal recessive nonsyndromic deafness 55
alt_id: MIM:609952
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16098016 "DO"]
synonym: "autosomal recessive deafness 55" EXACT []
synonym: "DFNB55" EXACT []
xref: GARD:9919
xref: MESH:C538203
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
is_a: DOID:0060140 ! cortical deafness

[Term]
id: DOID:0110511
name: autosomal recessive nonsyndromic deafness 59
alt_id: MIM:610220
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17301963 "DO"]
synonym: "autosomal recessive deafness 59" EXACT []
synonym: "DFNB59" EXACT []
xref: MESH:C565698
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110512
name: autosomal recessive nonsyndromic deafness 6
alt_id: MIM:600971
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12145746 "DO"]
synonym: "autosomal recessive deafness 6" EXACT []
synonym: "DFNB6" EXACT []
synonym: "neurosensory nonsyndromic recessive deafness 6" EXACT []
synonym: "NSRD6" EXACT []
synonym: "TMIE-RELATED CONDITION" EXACT []
xref: MESH:C563418
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110513
name: autosomal recessive nonsyndromic deafness 61
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12719379 "DO"]
synonym: "autosomal recessive deafness 61" EXACT []
synonym: "DFNB61" EXACT []
xref: MIM:613865
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110514
name: autosomal recessive nonsyndromic deafness 62
alt_id: MIM:610143
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16650082 "DO"]
synonym: "autosomal recessive deafness 62" EXACT []
synonym: "DFNB62" EXACT []
xref: MESH:C565719
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110515
name: autosomal recessive nonsyndromic deafness 63
alt_id: MIM:611451
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18953341 "DO"]
synonym: "autosomal recessive deafness 63" EXACT []
synonym: "DFNB63" EXACT []
xref: MESH:C566951
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110516
name: autosomal recessive nonsyndromic deafness 65
alt_id: MIM:610248
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16596430 "DO"]
synonym: "autosomal recessive deafness 65" EXACT []
synonym: "DFNB65" EXACT []
xref: MESH:C565211
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110517
name: autosomal recessive nonsyndromic deafness 66
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25601850 "DO"]
synonym: "autosomal recessive deafness 66" EXACT []
synonym: "DFNB66" EXACT []
xref: MESH:C565701
xref: MIM:610212
xref: MONDO:0012442
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110518
name: autosomal recessive nonsyndromic deafness 67
alt_id: MIM:610265
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16459341 "DO"]
synonym: "autosomal recessive deafness 67" EXACT []
synonym: "DFNB67" EXACT []
synonym: "LHFPL5-RELATED CONDITION" EXACT []
xref: MESH:C565207
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110519
name: autosomal recessive nonsyndromic deafness 68
alt_id: MIM:610419
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26805784 "DO"]
synonym: "autosomal recessive deafness 68" EXACT []
synonym: "DFNB68" EXACT []
xref: MESH:C563669
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110520
name: autosomal recessive nonsyndromic deafness 7
alt_id: MIM:600974
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11850618 "DO"]
synonym: "autosomal recessive deafness 11" EXACT []
synonym: "autosomal recessive deafness 7" EXACT []
synonym: "DFNB11" EXACT []
synonym: "DFNB7" EXACT []
xref: MESH:C563417
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110521
name: autosomal recessive nonsyndromic deafness 70
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23084290 "DO"]
synonym: "autosomal recessive deafness 70" EXACT []
synonym: "autosomal recessive deafness 70, with or without adult-onset neurodegeneration" EXACT []
synonym: "DFNB70" EXACT []
xref: MIM:614934
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110522
name: autosomal recessive nonsyndromic deafness 71
alt_id: MIM:612789
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19229252 "DO"]
synonym: "autosomal recessive deafness 71" EXACT []
synonym: "DFNB71" EXACT []
xref: MESH:C567562
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110523
name: autosomal recessive nonsyndromic deafness 74
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21185009 "DO"]
synonym: "autosomal recessive deafness 74" EXACT []
synonym: "DFNB74" EXACT []
xref: MIM:613718
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110524
name: autosomal recessive nonsyndromic deafness 76
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23348741 "DO"]
synonym: "autosomal recessive deafness 76" EXACT []
synonym: "DFNB76" EXACT []
xref: MIM:615540
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110525
name: autosomal recessive nonsyndromic deafness 77
alt_id: MIM:613079
def: "An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19732867 "DO"]
synonym: "autosomal recessive deafness 77" EXACT []
synonym: "AUTOSOMAL RECESSIVE DEAFNESS TYPE 77" EXACT []
synonym: "DFNB77" EXACT []
xref: MESH:C567543
xref: RDO:0015594
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110526
name: autosomal recessive nonsyndromic deafness 79
alt_id: MIM:613307
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20170899 "DO"]
synonym: "autosomal recessive deafness 79" EXACT []
synonym: "DFNB79" EXACT []
xref: MESH:C567651
xref: RDO:0015667
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110527
name: autosomal recessive nonsyndromic deafness 8
alt_id: RDO:0008796
alt_id: RDO:0014006
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11137999 "DO"]
synonym: "autosomal recessive deafness 8" EXACT []
synonym: "Deafness, Autosomal Recessive 10" EXACT []
synonym: "Deafness, Autosomal Recessive 8/10" EXACT []
synonym: "DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8" EXACT []
synonym: "DFNB10" EXACT []
synonym: "DFNB8" EXACT []
synonym: "Neurosensory Nonsyndromic Recessive Deafness 8" EXACT []
synonym: "NRSD8" EXACT []
synonym: "NSRD8" EXACT []
synonym: "TMPRSS3-RELATED CONDITION" EXACT []
xref: MESH:C563395
xref: MESH:C565341
xref: MIM:601072
xref: RDO:0012661
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110528
name: autosomal recessive nonsyndromic deafness 83
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2. (DO)" [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss "DO", https://www.omim.org/entry/613685 "DO"]
synonym: "autosomal recessive deafness 83" EXACT []
synonym: "DFNB83" EXACT []
xref: MIM:613685
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110529
name: autosomal recessive nonsyndromic deafness 84A
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20346435 "DO"]
synonym: "autosomal recessive deafness 84A" EXACT []
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 84" EXACT []
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION" EXACT []
synonym: "DFNB84" EXACT []
synonym: "DFNB84A" EXACT []
xref: MIM:613391
xref: RDO:0009830
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110530
name: autosomal recessive nonsyndromic deafness 84B
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23122586 "DO"]
synonym: "autosomal recessive deafness 84B" EXACT []
synonym: "DFNB84B" EXACT []
synonym: "OTOGL-RELATED CONDITION" EXACT []
xref: MIM:614944
xref: RDO:9000269
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110531
name: autosomal recessive nonsyndromic deafness 85
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19888295 "DO"]
synonym: "autosomal recessive deafness 85" EXACT []
synonym: "DFNB85" EXACT []
xref: MIM:613392
xref: RDO:0009831
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110532
name: autosomal recessive nonsyndromic deafness 86
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24387994 "DO"]
synonym: "autosomal recessive deafness 86" EXACT []
synonym: "DFNB86" EXACT []
xref: MIM:614617
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110533
name: autosomal recessive nonsyndromic deafness 88
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24039609 "DO"]
synonym: "autosomal recessive deafness 88" EXACT []
synonym: "DFNB88" EXACT []
xref: MIM:615429
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110534
name: autosomal recessive nonsyndromic deafness 89
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23768514 "DO"]
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 89" EXACT []
synonym: "DFNB89" EXACT []
xref: MIM:613916
xref: MONDO:0013489
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110535
name: autosomal recessive nonsyndromic deafness 9
alt_id: DOID:9005224
def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10192385 "DO"]
synonym: "AUDITORY NEUROPATHY, NONSYNDROMIC RECESSIVE" RELATED []
synonym: "AUDITORY NEUROPATHY SPECTRUM DISORDER" EXACT []
synonym: "AUNB1" RELATED []
synonym: "autosomal recessive auditory neuropathy 1" RELATED []
synonym: "autosomal recessive deafness 9" EXACT []
synonym: "DFNB9" EXACT []
synonym: "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9" EXACT []
synonym: "NRSD9" EXACT []
synonym: "NSRAN" RELATED []
synonym: "OTOF-RELATED CONDITION" BROAD []
xref: MESH:C563396
xref: MESH:C563398
xref: MIM:601071
xref: MONDO:0010986
xref: NCI:C116364
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
is_a: DOID:9001890 ! Auditory Neuropathy

[Term]
id: DOID:0110536
name: autosomal recessive nonsyndromic deafness 91
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20451170 "DO"]
synonym: "autosomal recessive deafness 91" EXACT []
synonym: "autosomal recessive nonsyndromic hearing loss 91" EXACT []
synonym: "DFNB91" EXACT []
synonym: "SERPINB6 autosomal recessive nonsyndromic deafness" EXACT []
xref: MIM:613453
xref: MONDO:0013269
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110537
name: autosomal recessive nonsyndromic deafness 93
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22981119 "DO"]
synonym: "autosomal recessive deafness 93" EXACT []
synonym: "DFNB93" EXACT []
xref: MIM:614899
xref: MONDO:0013963
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110538
name: autosomal recessive nonsyndromic deafness 96
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21937999 "DO"]
synonym: "autosomal recessive deafness 96" EXACT []
synonym: "DFNB96" EXACT []
xref: MIM:614414
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0110539
name: autosomal recessive nonsyndromic deafness 97
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25941349 "DO"]
synonym: "autosomal recessive deafness 97" EXACT []
synonym: "DFNB97" EXACT []
xref: MIM:616705
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110540
name: autosomal recessive nonsyndromic deafness 98
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22678063 "DO"]
synonym: "autosomal recessive deafness 98" EXACT []
synonym: "DFNB98" EXACT []
xref: MIM:614861
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0110541
name: autosomal dominant nonsyndromic deafness 1
def: "An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9360932 "DO"]
synonym: "autosomal dominant deafness 1" EXACT []
synonym: "autosomal dominant deafness 1, with or without thrombocytopenia" EXACT []
synonym: "DFNA1" EXACT []
synonym: "hereditary low frequency hearing loss" RELATED []
synonym: "hereditary low frequency hearing loss 1" EXACT []
synonym: "Konigsmark syndrome" EXACT []
synonym: "LFHL1" EXACT []
synonym: "progressive low tone deafness" RELATED []
xref: MESH:C565121
xref: MIM:124900
xref: MONDO:0007424
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110542
name: autosomal dominant nonsyndromic deafness 10
alt_id: MIM:601316
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11159937 "DO"]
synonym: "autosomal dominant deafness 10" EXACT []
synonym: "DFNA10" EXACT []
synonym: "EYA4-RELATED DISORDER" BROAD []
synonym: "EYA4-RELATED DISORDERS" BROAD []
xref: MESH:C563354
xref: RDO:0012636
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110543
name: autosomal dominant nonsyndromic deafness 11
alt_id: MIM:601317
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9354784 "DO"]
synonym: "autosomal dominant deafness 11" EXACT []
synonym: "DFNA11" EXACT []
xref: MESH:C563353
xref: RDO:0012635
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110544
name: autosomal dominant nonsyndromic deafness 12
alt_id: MIM:601543
def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9590290 "DO"]
synonym: "autosomal dominant deafness 12" EXACT []
synonym: "autosomal dominant deafness 8" EXACT []
synonym: "autosomal dominant deafness 8/12" EXACT []
synonym: "DFNA12" EXACT []
synonym: "DFNA8" EXACT []
synonym: "TECTA-RELATED CONDITION" BROAD []
xref: MESH:C563295
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110545
name: autosomal dominant nonsyndromic deafness 13
alt_id: MIM:601868
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10581026 "DO"]
synonym: "autosomal dominant deafness 13" EXACT []
synonym: "DFNA13" EXACT []
xref: MESH:C566612
xref: RDO:0014923
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110546
name: autosomal dominant nonsyndromic deafness 15
alt_id: DOID:0110578
alt_id: MIM:602459
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27535032/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/9506947 "DO"]
synonym: "autosomal dominant deafness 15" EXACT []
synonym: "autosomal dominant deafness 52" EXACT []
synonym: "autosomal dominant nonsyndromic deafness 52" EXACT []
synonym: "DEAFNESS, AUTOSOMAL DOMINANT 42" EXACT []
synonym: "DFNA15" EXACT []
synonym: "DFNA42" EXACT []
synonym: "DFNA52" EXACT []
synonym: "POU4F3-RELATED CONDITION" EXACT []
xref: MESH:C564348
xref: MESH:C566545
xref: MONDO:0011893
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110547
name: autosomal dominant nonsyndromic deafness 16
alt_id: MIM:603964
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10364526 "DO"]
synonym: "autosomal dominant deafness 16" EXACT []
synonym: "DFNA16" EXACT []
xref: MESH:C565832
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110548
name: autosomal dominant nonsyndromic deafness 17
alt_id: MIM:603622
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11023810 "DO"]
synonym: "autosomal dominant deafness 17" EXACT []
synonym: "COCHLEOSACCULAR DEGENERATION" NARROW []
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 17" EXACT []
synonym: "DFNA17" EXACT []
synonym: "late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration" EXACT []
synonym: "MYH9-RELATED CONDITION" BROAD []
xref: MESH:C538050
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
is_a: DOID:0060651 ! MYH-9 related disease

[Term]
id: DOID:0110549
name: autosomal dominant nonsyndromic deafness 18
alt_id: MIM:606012
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11313754 "DO"]
synonym: "autosomal dominant deafness 18" EXACT []
synonym: "DFNA18" EXACT []
xref: MESH:C565267
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110550
name: autosomal dominant nonsyndromic deafness 20
alt_id: MIM:604717
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13680526 "DO"]
synonym: "ACTG1-RELATED CONDITION" BROAD []
synonym: "ACTG1-RELATED DISORDER" BROAD []
synonym: "autosomal dominant deafness 20" EXACT []
synonym: "Deafness, autosomal dominant 20/26" EXACT []
synonym: "DFNA20" EXACT []
synonym: "DFNA26" EXACT []
xref: MESH:C565754
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110551
name: autosomal dominant nonsyndromic deafness 21
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10764236 "DO"]
synonym: "autosomal dominant deafness 21" EXACT []
synonym: "DFNA21" EXACT []
synonym: "RIPOR2-RELATED CONDITION" BROAD []
xref: MESH:C564634
xref: MIM:607017
xref: MONDO:0011761
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110552
name: autosomal dominant nonsyndromic deafness 22
alt_id: MIM:606346
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11468689 "DO"]
synonym: "autosomal dominant deafness 22" EXACT []
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 22" EXACT []
synonym: "DFNA 22" EXACT []
synonym: "DFNA22" EXACT []
synonym: "DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY," EXACT []
synonym: "MYO6-RELATED CONDITION" BROAD []
xref: MESH:C538197
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy

[Term]
id: DOID:0110553
name: autosomal dominant nonsyndromic deafness 23
alt_id: MESH:C565357
alt_id: MIM:605192
def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15141091 "DO"]
synonym: "autosomal dominant deafness 23" EXACT []
synonym: "deafness, autosomal dominant nonsyndromic sensorineural 23" EXACT []
synonym: "DFNA23" EXACT []
xref: MESH:C538198
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110554
name: autosomal dominant nonsyndromic deafness 24
alt_id: MIM:606282
alt_id: RDO:0004142
alt_id: RDO:0013939
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10739769 "DO"]
synonym: "autosomal dominant deafness 24" EXACT []
synonym: "autosomal dominant nonsyndromic sensorineural deafness 24" EXACT []
synonym: "DFNA24" EXACT []
xref: GARD:9166
xref: MESH:C538199
xref: MESH:C565239
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110555
name: autosomal dominant nonsyndromic deafness 25
alt_id: MIM:605583
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18674745 "DO"]
synonym: "autosomal dominant deafness 25" EXACT []
synonym: "DFNA25" EXACT []
xref: MESH:C565319
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110556
name: autosomal dominant nonsyndromic deafness 27
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18279434 "DO"]
synonym: "autosomal dominant deafness 27" EXACT []
synonym: "autosomal dominant nonsyndromic hearing loss 27" EXACT []
synonym: "DFNA27" EXACT []
xref: MIM:612431
xref: MONDO:0012902
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110557
name: autosomal dominant nonsyndromic deafness 28
alt_id: MIM:608641
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12393799 "DO"]
synonym: "autosomal dominant deafness 28" EXACT []
synonym: "DFNA28" EXACT []
xref: MESH:C563890
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110558
name: autosomal dominant nonsyndromic deafness 2A
alt_id: MIM:600101
def: "An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10025409 "DO"]
synonym: "autosomal dominant deafness 2A" EXACT []
synonym: "DFNA2A" EXACT []
synonym: "DFNA 2 Nonsyndromic Hearing Loss" EXACT []
synonym: "KCNQ4-RELATED CONDITION" EXACT []
xref: MESH:C567441
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110559
name: autosomal dominant nonsyndromic deafness 2B
alt_id: MIM:612644
def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9843210 "DO"]
synonym: "autosomal dominant deafness 2B" EXACT []
synonym: "DFNA2B" EXACT []
xref: MESH:C567214
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110560
name: autosomal dominant nonsyndromic deafness 30
alt_id: MIM:606451
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11571554 "DO"]
synonym: "autosomal dominant deafness 30" EXACT []
synonym: "DFNA30" EXACT []
xref: MESH:C564706
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110561
name: autosomal dominant nonsyndromic deafness 31
alt_id: MIM:608645
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11559344 "DO"]
synonym: "autosomal dominant deafness 31" EXACT []
synonym: "DFNA31" EXACT []
xref: MESH:C563888
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110562
name: autosomal dominant nonsyndromic deafness 33
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19183916 "DO"]
synonym: "autosomal dominant deafness 33" EXACT []
synonym: "DFNA33" EXACT []
xref: MIM:614211
xref: MONDO:0013632
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110563
name: autosomal dominant nonsyndromic deafness 36
alt_id: MIM:606705
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11850618 "DO"]
synonym: "autosomal dominant deafness 36" EXACT []
synonym: "DFNA36" EXACT []
synonym: "TMC1-RELATED CONDITION" BROAD []
xref: MESH:C564675
xref: NCI:C174444
xref: RDO:0013550
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110564
name: autosomal dominant nonsyndromic deafness 3A
alt_id: MIM:601544
def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9139825 "DO"]
synonym: "autosomal dominant deafness 3A" EXACT []
synonym: "DFNA3A" EXACT []
xref: MESH:C567277
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110565
name: autosomal dominant nonsyndromic deafness 3B
alt_id: MIM:612643
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10471490 "DO"]
synonym: "autosomal dominant deafness 3B" EXACT []
synonym: "DFNA3B" EXACT []
xref: MESH:C567215
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110566
name: autosomal dominant nonsyndromic deafness 40
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12471561 "DO"]
synonym: "autosomal dominant deafness 40" EXACT []
synonym: "DFNA40" EXACT []
xref: MIM:616357
xref: RDO:9001421
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110567
name: autosomal dominant nonsyndromic deafness 41
alt_id: MIM:608224
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24211385 "DO", https://www.omim.org/entry/608224 "DO"]
synonym: "autosomal dominant deafness 41" EXACT []
synonym: "DFNA41" EXACT []
synonym: "P2RX2-RELATED CONDITION" EXACT []
xref: MESH:C564272
xref: NCI:C175700
xref: RDO:0013294
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110568
name: autosomal dominant nonsyndromic deafness 43
alt_id: MIM:608394
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12676899 "DO"]
synonym: "autosomal dominant deafness 43" EXACT []
synonym: "DFNA43" EXACT []
xref: MESH:C564246
xref: RDO:0013272
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110569
name: autosomal dominant nonsyndromic deafness 44
alt_id: MIM:607453
def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17503326 "DO"]
synonym: "autosomal dominant deafness 44" EXACT []
synonym: "DFNA44" EXACT []
xref: MESH:C564399
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110570
name: autosomal dominant nonsyndromic deafness 47
alt_id: MIM:608652
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12634859 "DO"]
synonym: "autosomal dominant deafness 47" EXACT []
synonym: "DFNA47" EXACT []
xref: MESH:C563885
xref: RDO:0013025
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110571
name: autosomal dominant nonsyndromic deafness 48
alt_id: MIM:607841
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12736868 "DO"]
synonym: "autosomal dominant deafness 48" EXACT []
synonym: "DFNA48" EXACT []
xref: MESH:C564322
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110572
name: autosomal dominant nonsyndromic deafness 49
alt_id: MIM:608372
alt_id: RDO:0013276
def: "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14627674 "DO"]
synonym: "autosomal dominant deafness 49" EXACT []
synonym: "DFNA49" EXACT []
xref: MESH:C564250
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110573
name: autosomal dominant nonsyndromic deafness 4A
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15015131 "DO"]
synonym: "autosomal dominant deafness 4A" EXACT []
synonym: "DFNA4A" EXACT []
synonym: "MYH14-RELATED CONDITION" BROAD []
xref: MIM:600652
xref: MONDO:0010915
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110574
name: autosomal dominant nonsyndromic deafness 4B
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21368133 "DO"]
synonym: "autosomal dominant deafness 4B" EXACT []
synonym: "DFNA4B" EXACT []
xref: MIM:614614
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110575
name: autosomal dominant nonsyndromic deafness 5
alt_id: MIM:600994
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15. (DO)" [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss "DO", https://www.ncbi.nlm.nih.gov/pubmed/29849037 "DO", https://www.omim.org/entry/600994 "DO"]
synonym: "autosomal dominant deafness 5" EXACT []
synonym: "DFNA5" EXACT []
xref: MESH:C563410
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110576
name: autosomal dominant nonsyndromic deafness 50
def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19363479 "DO"]
synonym: "autosomal dominant deafness 50" EXACT []
synonym: "DFNA50" EXACT []
xref: MIM:613074
xref: RDO:0009751
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110577
name: autosomal dominant nonsyndromic deafness 51
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20602916 "DO"]
synonym: "autosomal dominant deafness 51" EXACT []
synonym: "chromosome 9q21.11 duplication syndrome" EXACT []
synonym: "DFNA51" EXACT []
xref: MIM:613558
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
is_a: DOID:0060429 ! chromosomal duplication syndrome

[Term]
id: DOID:0110579
name: autosomal dominant nonsyndromic deafness 53
alt_id: MIM:609965
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15958501 "DO"]
synonym: "autosomal dominant deafness 53" EXACT []
synonym: "DFNA53" EXACT []
xref: GARD:9934
xref: MESH:C566495
xref: RDO:0014833
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110580
name: autosomal dominant nonsyndromic deafness 54
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15490091 "DO"]
synonym: "autosomal dominant deafness 54" EXACT []
synonym: "DFNA54" EXACT []
xref: MIM:615649
xref: MONDO:0014291
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:0110581
name: autosomal dominant nonsyndromic deafness 56
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23936043 "DO"]
synonym: "autosomal dominant deafness 56" EXACT []
synonym: "DFNA56" EXACT []
synonym: "TNC-RELATED CONDITION" EXACT []
xref: MIM:615629
xref: RDO:9001018
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110582
name: autosomal dominant nonsyndromic deafness 58
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19159392 "DO"]
synonym: "autosomal dominant deafness 58" EXACT []
synonym: "DFNA58" EXACT []
xref: MIM:615654
xref: NCI:C201585
xref: RDO:9002346
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:0110583
name: autosomal dominant nonsyndromic deafness 59
alt_id: MIM:612642
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19030898 "DO"]
synonym: "autosomal dominant deafness 59" EXACT []
synonym: "DFNA59" EXACT []
xref: MESH:C567216
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110584
name: autosomal dominant nonsyndromic deafness 6
alt_id: MIM:600965
def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11709537 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11709538 "DO"]
synonym: "autosomal dominant deafness 6" EXACT []
synonym: "Deafness, Autosomal Dominant 14" EXACT []
synonym: "Deafness, Autosomal Dominant 38" EXACT []
synonym: "DFNA14" EXACT []
synonym: "DFNA38" EXACT []
synonym: "DFNA6" EXACT []
xref: MESH:C563421
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110585
name: autosomal dominant nonsyndromic deafness 64
alt_id: RDO:9000264
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21722859 "DO"]
synonym: "autosomal dominant deafness 64" EXACT []
synonym: "DFNA64" EXACT []
xref: MIM:614152
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110586
name: autosomal dominant nonsyndromic deafness 65
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24729539 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24729547 "DO"]
synonym: "autosomal dominant deafness 65" RELATED []
synonym: "DFNA65" RELATED []
xref: MIM:616044
xref: RDO:9002446
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:0110587
name: autosomal dominant nonsyndromic deafness 66
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26197441 "DO"]
synonym: "autosomal dominant deafness 66" EXACT []
synonym: "autosomal dominant nonsyndromic hearing loss 66" EXACT []
synonym: "DFNA66" EXACT []
xref: MIM:616969
xref: MONDO:0014854
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110588
name: autosomal dominant nonsyndromic deafness 67
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25077649 "DO"]
synonym: "autosomal dominant deafness 67" EXACT []
synonym: "DFNA67" EXACT []
xref: MIM:616340
xref: RDO:9001423
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110589
name: autosomal dominant nonsyndromic deafness 68
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25816005 "DO"]
synonym: "autosomal dominant deafness 68" EXACT []
synonym: "DFNA68" EXACT []
xref: MIM:616707
xref: RDO:9000776
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110590
name: autosomal dominant nonsyndromic deafness 69
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26522471 "DO"]
synonym: "autosomal dominant deafness 69" EXACT []
synonym: "DCUA" EXACT []
synonym: "Deafness, autosomal dominant 69, unilateral or asymmetric" EXACT []
synonym: "DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC" EXACT []
synonym: "DFNA69" EXACT []
xref: ICD10CM:H90.3
xref: MIM:616697
xref: RDO:9000404
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110591
name: autosomal dominant nonsyndromic deafness 7
alt_id: MIM:601412
def: "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8842739 "DO"]
synonym: "autosomal dominant deafness 7" EXACT []
synonym: "DFNA7" EXACT []
xref: MESH:C563321
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110592
name: autosomal dominant nonsyndromic deafness 70
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26196677 "DO"]
synonym: "autosomal dominant deafness 70" EXACT []
synonym: "DFNA70" EXACT []
xref: MIM:616968
xref: MONDO:0014853
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110593
name: autosomal dominant nonsyndromic deafness 9
def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9806553 "DO"]
synonym: "autosomal dominant deafness 9" EXACT []
synonym: "DFNA9" EXACT []
xref: MESH:C563335
xref: MIM:601369
xref: MONDO:0011058
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:0110594
name: primary ciliary dyskinesia 1
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10577904 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD1" EXACT []
synonym: "DNAI1-RELATED CONDITION" EXACT []
synonym: "primary ciliary dyskinesia 1 with or without situs inversus" EXACT []
xref: MIM:244400
xref: MONDO:0009484
xref: NCI:C128117
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:0110595
name: Stromme syndrome
alt_id: MIM:243605
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25564561 "DO"]
synonym: "apple peel syndrome with microcephaly and ocular anomalies" EXACT []
synonym: "CILD31" EXACT []
synonym: "jejunal atresia with microcephaly and ocular anomalies" EXACT []
synonym: "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT []
synonym: "primary ciliary dyskinesia 31" EXACT []
synonym: "STROMS" EXACT []
xref: EFO:0009160
xref: MESH:C565460
is_a: DOID:10486 ! intestinal atresia
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110596
name: primary ciliary dyskinesia 21
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23354437 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD21" EXACT []
synonym: "DRC1-RELATED CONDITION" BROAD []
synonym: "primary ciliary dyskinesia 21 without situs inversus" EXACT []
xref: MIM:615294
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110597
name: primary ciliary dyskinesia 22
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23891469 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23891471 "DO"]
synonym: "CILD22" EXACT []
synonym: "primary ciliary dyskinesia 22, with or without situs inversus" EXACT []
synonym: "ZMYND10-RELATED CONDITION" EXACT []
xref: MIM:615444
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110598
name: primary ciliary dyskinesia 14
alt_id: OMIA:001540
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21131972 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CCDC39-RELATED CONDITION" EXACT []
synonym: "CILD14" EXACT []
synonym: "primary ciliary dyskinesia 14, with or without situs inversus" EXACT []
xref: MIM:613807
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110599
name: primary ciliary dyskinesia 3
alt_id: MIM:608644
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11788826 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD3" EXACT []
synonym: "DNAH5-RELATED CONDITION" EXACT []
synonym: "primary ciliary dyskinesia 3, with or without situs inversus" EXACT []
synonym: "RESPIRATORY CILIOPATHIES INCLUDING NON-CF BRONCHIECTASIS" BROAD []
xref: ICD10CM:Q34.8
xref: MESH:C535278
xref: NCI:C172392
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110600
name: primary ciliary dyskinesia 29
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24747639 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CCNO-RELATED CONDITION" EXACT []
synonym: "CILD29" EXACT []
synonym: "primary ciliary dyskinesia 29, without situs inversus" EXACT []
xref: MIM:615872
xref: NCI:C172393
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110601
name: primary ciliary dyskinesia 12
alt_id: MIM:612650
def: "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19200523 "DO"]
synonym: "CILD12" EXACT []
synonym: "primary ciliary dyskinesia 12, without situs inversus" EXACT []
xref: MESH:C567211
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110602
name: primary ciliary dyskinesia 11
alt_id: MIM:612649
def: "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19200523 "DO"]
synonym: "CILD11" EXACT []
synonym: "primary ciliary dyskinesia 11, without situs inversus" EXACT []
synonym: "RSPH4A-RELATED CONDITION" EXACT []
xref: MESH:C567212
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110603
name: primary ciliary dyskinesia 32
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26073779 "DO"]
synonym: "CILD32" EXACT []
synonym: "CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS" EXACT []
xref: MIM:616481
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110604
name: primary ciliary dyskinesia 18
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23040496 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD18" EXACT []
synonym: "DNAAF5-RELATED CONDITION" EXACT []
synonym: "primary ciliary dyskinesia 18 with or without situs inversus" EXACT []
xref: MIM:614874
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110605
name: primary ciliary dyskinesia 7
alt_id: MIM:611884
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18022865 "DO"]
synonym: "CILD7" EXACT []
synonym: "DNAH11-RELATED CONDITION" EXACT []
synonym: "primary ciliary dyskinesia 7 with or without situs inversus" EXACT []
xref: MESH:C567504
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110606
name: primary ciliary dyskinesia 6
alt_id: MIM:610852
def: "A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17360648 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD6" EXACT []
synonym: "NME8-RELATED CONDITION" EXACT []
xref: MESH:C567057
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110607
name: primary ciliary dyskinesia 28
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24055112 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD28" EXACT []
synonym: "primary ciliary dyskinesia 28 with or without situs inversus" EXACT []
xref: MIM:615505
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110608
name: primary ciliary dyskinesia 19
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23122589 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD19" EXACT []
synonym: "DNAAF11-RELATED CONDITION" EXACT []
synonym: "primary ciliary dyskinesia 19 with or without situs inversus" EXACT []
xref: MIM:614935
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110609
name: primary ciliary dyskinesia 23
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23849778 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD23" EXACT []
synonym: "CILIARY DYSKINESIA, PRIMARY, 23, WITH OR WITHOUT SITUS INVERSUS" EXACT []
xref: MIM:615451
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110610
name: primary ciliary dyskinesia 34
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27486783 "DO"]
synonym: "CILD34" EXACT []
synonym: "CILIARY DYSKINESIA, PRIMARY, 34, WITHOUT SITUS INVERSUS" EXACT []
xref: MIM:617091
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110611
name: primary ciliary dyskinesia 27
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24094744 "DO"]
synonym: "CILD27" EXACT []
synonym: "primary ciliary dyskinesia 27 without situs inversus" EXACT []
xref: MIM:615504
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110612
name: primary ciliary dyskinesia 10
alt_id: MIM:612518
def: "A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19052621 "DO"]
synonym: "CILD10" EXACT []
synonym: "DNAAF2-RELATED CONDITION" EXACT []
synonym: "primary ciliary dyskinesia 10, with or without situs inversus" EXACT []
xref: MESH:C567287
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110613
name: primary ciliary dyskinesia 16
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21496787 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD16" EXACT []
synonym: "primary ciliary dyskinesia 16 with or without situs inversus" EXACT []
xref: MIM:614017
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110614
name: primary ciliary dyskinesia 4
alt_id: MIM:608646
def: "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14985390 "DO"]
synonym: "CILD4" EXACT []
synonym: "primary ciliary dyskinesia 4, with or without situs inversus" EXACT []
xref: MESH:C535279
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110615
name: primary ciliary dyskinesia 25
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23872636 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD25" EXACT []
synonym: "DNAAF4-RELATED CONDITION" BROAD []
synonym: "primary ciliary dyskinesia 25, with or without situs inversus" EXACT []
xref: MIM:615482
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110616
name: primary ciliary dyskinesia 8
alt_id: MIM:612274
def: "A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18270537 "DO"]
synonym: "CILD8" EXACT []
synonym: "primary ciliary dyskinesia 8, with or without situs inversus" EXACT []
xref: MESH:C567373
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110617
name: primary ciliary dyskinesia 5
alt_id: MIM:608647
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23022101 "DO"]
synonym: "CILD5" EXACT []
synonym: "primary ciliary dyskinesia 5 without situs inversus" EXACT []
xref: MESH:C563886
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110618
name: primary ciliary dyskinesia 13
alt_id: MIM:613193
def: "A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19944400 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD13" EXACT []
synonym: "DNAAF1-RELATED CONDITION" EXACT []
synonym: "primary ciliary dyskinesia 13, with or without situs inversus" EXACT []
xref: MESH:C567713
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110619
name: primary ciliary dyskinesia 33
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26387594 "DO"]
synonym: "CILD33" EXACT []
synonym: "CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS" EXACT []
xref: MIM:616726
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110620
name: primary ciliary dyskinesia 35
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27486780 "DO"]
synonym: "CILD35" EXACT []
synonym: "primary ciliary dyskinesia 35 with or without situs inversus" EXACT []
xref: MIM:617092
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110621
name: primary ciliary dyskinesia 17
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22581229 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD17" EXACT []
synonym: "primary ciliary dyskinesia 17, with or without situs inversus" EXACT []
xref: MIM:614679
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110622
name: primary ciliary dyskinesia 9
alt_id: MIM:612444
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18950741 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD9" EXACT []
synonym: "DNAI2-RELATED CONDITION" EXACT []
synonym: "primary ciliary dyskinesia 9, with or without situs inversus" EXACT []
synonym: "RESPIRATORY CILIOPATHIES INCLUDING NON-CF BRONCHIECTASIS" BROAD []
xref: MESH:C567310
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110623
name: primary ciliary dyskinesia 15
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21131974 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CCDC40-RELATED CONDITION" EXACT []
synonym: "CILD15" EXACT []
synonym: "primary ciliary dyskinesia 15, with or without situs inversus" EXACT []
xref: MIM:613808
xref: NCI:C155999
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110624
name: primary ciliary dyskinesia 30
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25192045 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD30" EXACT []
synonym: "primary ciliary dyskinesia 30, with or without situs inversus" EXACT []
synonym: "primary ciliary dyskinesia 30 without situs inversus" EXACT []
xref: MIM:616037
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110625
name: primary ciliary dyskinesia 20
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23261303 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD20" EXACT []
synonym: "CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS" EXACT []
xref: MIM:615067
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110626
name: primary ciliary dyskinesia 2
alt_id: MIM:606763
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22387996 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD2" EXACT []
synonym: "DNAAF3-RELATED CONDITION" EXACT []
synonym: "primary ciliary dyskinesia 2, with or without situs inversus" EXACT []
xref: MESH:C535277
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110627
name: primary ciliary dyskinesia 26
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24094744 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"]
synonym: "CILD26" EXACT []
synonym: "primary ciliary dyskinesia 26 with or without situs inversus" EXACT []
xref: MIM:615500
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110628
name: primary ciliary dyskinesia 24
def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23993197 "DO"]
synonym: "CILD24" EXACT []
synonym: "CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS" EXACT []
xref: MIM:615481
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0110629
name: Wolfram syndrome 1
def: "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21538838 "DO"]
synonym: "diabetes mellitus AND insipidus with optic atrophy AND deafness" EXACT []
synonym: "WFS1" EXACT []
xref: ICD10CM:E13.8
xref: MIM:222300
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10632 ! Wolfram syndrome
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0110630
name: Wolfram syndrome 2
alt_id: MIM:604928
def: "An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25056293 "DO"]
synonym: "WFS2" EXACT []
xref: MESH:C565733
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10632 ! Wolfram syndrome
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9002644 ! Premature Aging

[Term]
id: DOID:0110632
name: megaconial type congenital muscular dystrophy
alt_id: MIM:602541
def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16371353 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21665002 "DO"]
synonym: "congenital megaconial myopathy" EXACT []
synonym: "congenital muscular dystrophy, CHKB-related" BROAD []
synonym: "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" EXACT []
synonym: "congenital muscular dystrophy with mitochondrial structural abnormalities" EXACT []
synonym: "MDCMC" EXACT []
synonym: "megaconial congenital muscular dystrophy" EXACT []
xref: MESH:C566527
xref: ORDO:280671
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110633
name: rigid spine muscular dystrophy 1
alt_id: MIM:602771
def: "A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11528383 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12192640 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15122708 "DO"]
synonym: "classic MmD" EXACT []
synonym: "classic multiminicore disease" EXACT []
synonym: "classic multiminicore myopathy" EXACT []
synonym: "CMYP3" EXACT []
synonym: "congenital muscular dystrophy, merosin positive with early spine rigidity" EXACT []
synonym: "congenital muscular dystrophy with rigid spine" EXACT []
synonym: "congenital myopathy 3 with rigid spine" EXACT []
synonym: "Desmin-related myopathies with Mallory bodies" EXACT []
synonym: "Desmin-Related Myopathy With Mallory Bodies" EXACT []
synonym: "desmin-related myopathy with Mallory body-like inclusions" EXACT []
synonym: "early-onset desmin-related myopathy" EXACT []
synonym: "MDRS1" EXACT []
synonym: "Minicore myopathy, severe classic form" EXACT []
synonym: "Multicore myopathy, severe classic form" EXACT []
synonym: "Multiminicore/minicore/multicore disease" EXACT []
synonym: "Multi-minicore disease and atypical periodic paralysis" NARROW []
synonym: "Multiminicore disease, severe classic form" EXACT []
synonym: "Muscular Dystrophy, Congenital, Eichsfeld Type" EXACT []
synonym: "rigid spine syndrome" EXACT []
synonym: "RSMD1" EXACT []
synonym: "RSS" EXACT []
synonym: "SEPN1-related disorder" BROAD []
synonym: "SEPN1-related myopathy" EXACT []
xref: GARD:4723
xref: ICD10CM:G71.8
xref: MESH:C535683
xref: NCI:C126691
xref: ORDO:324604
xref: ORDO:84132
xref: ORDO:97244
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060249 ! scoliosis

[Term]
id: DOID:0110634
name: congenital muscular dystrophy 1B
alt_id: MIM:604801
def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10677302 "DO"]
synonym: "congenital muscular dystrophy type 1B" EXACT []
synonym: "MDC1B" EXACT []
xref: ICD10CM:G71.2
xref: MESH:C565748
xref: ORDO:98893
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110635
name: muscular dystrophy-dystroglycanopathy type B5
alt_id: MIM:606612
def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11592034 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14652796 "DO"]
synonym: "congenital muscular dystrophy 1C" EXACT []
synonym: "congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5" NARROW []
synonym: "congenital muscular dystrophy-dystroglycanopathy with or without impaired intellectual development, type B5" EXACT []
synonym: "congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5" NARROW []
synonym: "congenital muscular dystrophy, FKRP-related" EXACT []
synonym: "MDC1C" EXACT []
synonym: "MDDGB5" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5" EXACT []
xref: MESH:C564691
xref: ORDO:52428
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B

[Term]
id: DOID:0110636
name: congenital merosin-deficient muscular dystrophy 1A
alt_id: MIM:607855
def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24611677 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7550355 "DO"]
synonym: "CMD1A" EXACT []
synonym: "congenital muscular dystrophy due to laminin alpha2 deficiency" EXACT []
synonym: "congenital muscular dystrophy, LAMA2-related" BROAD []
synonym: "LAMININ ALPHA 2-RELATED DYSTROPHY" EXACT []
synonym: "MDC1A" EXACT []
synonym: "merosin-deficient congenital muscular dystrophy" EXACT []
synonym: "merosin-negative congenital muscular dystrophy" EXACT []
synonym: "MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN DEFICIENT OR PARTIALLY DEFICIENT" EXACT []
xref: EFO:0009138
xref: MESH:C537384
xref: NCI:C118783
xref: ORDO:258
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110637
name: muscular dystrophy-dystroglycanopathy type B6
alt_id: MIM:608840
def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12966029 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19067344 "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B6" EXACT []
synonym: "CONGENITAL MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY WITH MENTAL RETARDATION, TYPE B6" EXACT []
synonym: "congenital muscular dystrophy, LARGE-related" EXACT []
synonym: "congenital muscular dystrophy, type 1D" EXACT []
synonym: "MDC1D" EXACT []
synonym: "MDDGB6" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6" EXACT []
xref: MESH:C563844
xref: ORDO:98894
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B
is_a: DOID:1059 ! intellectual disability

[Term]
id: DOID:0110639
name: congenital muscular dystrophy due to integrin alpha-7 deficiency
alt_id: MIM:613204
alt_id: RDO:0015704
def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9590299 "DO"]
synonym: "congenital muscular dystrophy due to ITGA7 deficiency" EXACT []
synonym: "CONGENITAL MUSCULAR DYSTROPHY, ITGA7-RELATED" EXACT []
synonym: "congenital muscular dystrophy with integrin alpha-7 deficiency" EXACT []
synonym: "congenital muscular dystrophy with ITGA7 deficiency" EXACT []
synonym: "congenital myopathy due to Integrin Alpha-7 deficiency" EXACT []
xref: MESH:C567709
xref: ORDO:34520
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110640
name: congenital muscular dystrophy due to LMNA mutation
alt_id: MIM:613205
def: "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15148145 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18551513 "DO"]
synonym: "congenital muscular dystrophy LMNA-related" EXACT []
synonym: "L-CMD" EXACT []
synonym: "Mdcl" EXACT []
xref: MESH:C567708
xref: NCI:C148369
xref: ORDO:157973
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9006138 ! Laminopathies

[Term]
id: DOID:0110644
name: long QT syndrome 1
alt_id: RDO:9000717
def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17192539 "DO"]
synonym: "LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO" NARROW []
synonym: "long QT syndrome 1, recessive" NARROW []
synonym: "long QT syndrome, LQT1 subtype" EXACT []
synonym: "long QT syndrome type 1" EXACT []
synonym: "LQT1" EXACT []
synonym: "LQT1/2, Digenic" NARROW []
synonym: "LQT1 subtype" EXACT []
synonym: "ventricular fibrillation with prolonged QT interval" EXACT []
synonym: "VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL LONG QT SYNDROME 1/2, DIGENIC" NARROW []
xref: GARD:3284
xref: MIM:192500
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080578 ! digenic disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0110645
name: long QT syndrome 2
alt_id: MIM:613688
def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7889573 "DO"]
synonym: "KCNH2-RELATED CONDITION" BROAD []
synonym: "KCNH2-RELATED DISORDERS" BROAD []
synonym: "LONG QT SYNDROME 2/9, DIGENIC" NARROW []
synonym: "LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO" NARROW []
synonym: "LONG QT SYNDROME, BRADYCARDIA-INDUCED" EXACT []
synonym: "LQT2" EXACT []
synonym: "LQT2/9, digenic" NARROW []
xref: GARD:3285
xref: MESH:C563614
xref: NCI:C137957
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080578 ! digenic disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0110646
name: long QT syndrome 3
alt_id: MIM:603830
def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8541846 "DO"]
synonym: "LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO" RELATED []
synonym: "Long QT Syndrome Type 3" EXACT []
synonym: "LQT3" EXACT []
xref: GARD:3286
xref: MESH:C537034
xref: MESH:C565840
xref: NCI:C137959
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080578 ! digenic disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0110647
name: long QT syndrome 5
def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10973849 "DO"]
synonym: "KCNE1-RELATED CONDITION" BROAD []
synonym: "LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO" NARROW []
synonym: "LQT5" EXACT []
xref: GARD:10433
xref: ICD10CM:I45.8
xref: MESH:C566766
xref: MIM:613695
xref: MONDO:0013372
xref: NCI:C172094
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080578 ! digenic disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0110648
name: long QT syndrome 6
alt_id: MIM:613693
def: "A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10219239 "DO"]
synonym: "KCNE2-RELATED DISORDER" BROAD []
synonym: "LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO" RELATED []
synonym: "LQT6" EXACT []
xref: GARD:10434
xref: MESH:C566333
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080578 ! digenic disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0110649
name: long QT syndrome 8
def: "A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34079780 "DO", https://pubmed.ncbi.nlm.nih.gov/37132248/ "DO", https://www.omim.org/MIM\:618447 "DO"]
synonym: "LQT8" EXACT []
xref: MIM:618447
xref: NCI:C142894
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2843 ! long QT syndrome
created_by: mtutaj
creation_date: 2024-02-28T17:22:06Z

[Term]
id: DOID:0110650
name: long QT syndrome 9
alt_id: MIM:611818
def: "A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17060380 "DO"]
synonym: "LONG QT SYNDROME 2/9, DIGENIC" NARROW []
synonym: "Long Qt Syndrome 2-9" EXACT []
synonym: "LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO" NARROW []
synonym: "LQT2/9, digenic" NARROW []
synonym: "LQT9" EXACT []
xref: GARD:10435
xref: MESH:C567515
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080578 ! digenic disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0110651
name: long QT syndrome 10
alt_id: MIM:611819
def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17592081 "DO"]
synonym: "LQT10" EXACT []
xref: GARD:10436
xref: MESH:C567514
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0110652
name: long QT syndrome 11
alt_id: MIM:611820
def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18093912 "DO"]
synonym: "AKAP9-RELATED CONDITION" EXACT []
synonym: "LQT11" EXACT []
xref: GARD:10437
xref: MESH:C567513
xref: NCI:C192195
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0110653
name: long QT syndrome 12
alt_id: MIM:612955
def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19684871 "DO"]
synonym: "LQT12" EXACT []
xref: MESH:C567842
xref: NCI:C192202
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0110654
name: long QT syndrome 13
def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20560207 "DO"]
synonym: "LQT13" EXACT []
xref: MIM:613485
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0110655
name: long QT syndrome 14
def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24076290 "DO"]
synonym: "LQT14" EXACT []
xref: MIM:616247
xref: NCI:C177534
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0110656
name: long QT syndrome 15
def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23388215 "DO"]
synonym: "LQT15" EXACT []
xref: MIM:616249
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0110657
name: congenital myasthenic syndrome 8
alt_id: RDO:9000868
alt_id: RDO:9003080
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19631309 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22205389 "DO"]
synonym: "CMS8" EXACT []
synonym: "CMSPPD" EXACT []
synonym: "congenital myasthenic syndrome 8 with pre- and postsynaptic defects" EXACT []
synonym: "congenital myasthenic syndrome due to agrin deficiency" EXACT []
synonym: "congenital myasthenic syndrome, with pre- and postsynaptic defects" EXACT []
xref: MIM:615120
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0110658
name: congenital myasthenic syndrome 15
alt_id: RDO:9001469
def: "A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23404334 "DO"]
synonym: "CMS15" EXACT []
synonym: "CMSWTA" EXACT []
synonym: "congenital myasthenic syndrome 15 without tubular aggregates" EXACT []
synonym: "congenital myasthenic syndrome without tubular aggregates" EXACT []
xref: MIM:616227
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: rgd
creation_date: 2017-03-13T00:00:00Z

[Term]
id: DOID:0110659
name: congenital myasthenic syndrome 7
def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25192047 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"]
synonym: "CMS7" EXACT []
synonym: "congenital myasthenic syndrome 7 presynaptic" EXACT []
synonym: "congenital presynaptic myasthenic syndrome with or without motor neuropathy" EXACT []
synonym: "MYSPC" EXACT []
synonym: "SYT2-RELATED CONDITION" BROAD []
xref: MIM:616040
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: rgd
creation_date: 2017-03-27T00:00:00Z

[Term]
id: DOID:0110660
name: congenital myasthenic syndrome 12
alt_id: RDO:9000586
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12467753 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21310273 "DO"]
synonym: "CMS12" EXACT []
synonym: "CMSTA1" EXACT []
synonym: "congenital myasthenia 12 with tubular aggregates" EXACT []
synonym: "Myasthenic Syndrome, Congenital, with Tubular Aggregates 1" EXACT []
xref: MIM:610542
xref: NCI:C168997
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome

[Term]
id: DOID:0110661
name: congenital myasthenic syndrome 20
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27569547 "DO"]
synonym: "CMS20" EXACT []
synonym: "congenital myasthenic syndrome 20 presynaptic" EXACT []
xref: MIM:617143
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: rgd
creation_date: 2017-03-27T00:00:00Z

[Term]
id: DOID:0110662
name: congenital myasthenic syndrome 1B
def: "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10195214 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15079006 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"]
synonym: "CHRNA1-related congenital myasthenic syndrome" BROAD []
synonym: "CMS1B" EXACT []
synonym: "congenital myasthenic syndrome 1B, fast-channel" EXACT []
xref: MIM:608930
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9006988 ! Congenital Myasthenic Syndrome, Fast-Channel
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0110663
name: congenital myasthenic syndrome 1A
alt_id: MIM:601462
def: "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7619526 "DO"]
synonym: "CHRNA1-related congenital myasthenic syndrome" BROAD []
synonym: "CMS1A" EXACT []
synonym: "CMS2A (formerly)" RELATED []
synonym: "CMS IIa (formerly)" RELATED []
synonym: "congenital myasthenic syndrome 1A, slow-channel" EXACT []
synonym: "congenital myasthenic syndrome, postsynaptic slow-channel" EXACT []
synonym: "congenital myasthenic syndrome type IIa" RELATED []
synonym: "congenital myasthenic syndrome type IIa (formerly)" RELATED []
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3635 ! congenital myasthenic syndrome

[Term]
id: DOID:0110664
name: congenital myasthenic syndrome 3C
alt_id: RDO:9001488
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16916845 "DO"]
synonym: "CMS3C" EXACT []
synonym: "congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency" EXACT []
xref: MIM:616323
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: rgd
creation_date: 2017-03-27T00:00:00Z

[Term]
id: DOID:0110665
name: congenital myasthenic syndrome 3B
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11435464 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"]
synonym: "CMS3B" EXACT []
synonym: "congenital myasthenic syndrome 3B, fast-channel" EXACT []
xref: MIM:616322
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome
is_a: DOID:9006988 ! Congenital Myasthenic Syndrome, Fast-Channel
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0110666
name: congenital myasthenic syndrome 3A
def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11782989 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"]
synonym: "CMS3A" EXACT []
synonym: "congenital myasthenic syndrome 3A, slow-channel" EXACT []
xref: MIM:616321
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0110667
name: congenital myasthenic syndrome 5
alt_id: MIM:603034
alt_id: OMIA:001928
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"]
synonym: "CMS1C" EXACT []
synonym: "CMS5" EXACT []
synonym: "CMS Ic" EXACT []
synonym: "congenital myasthenic syndrome, COLQ-related" NARROW []
synonym: "congenital myasthenic syndrome, due to COLQ" NARROW []
synonym: "congenital myasthenic syndrome, Engel type" EXACT []
synonym: "congenital myasthenic syndrome type Ic" EXACT []
synonym: "EAD" EXACT []
synonym: "Endplate Acetylcholinesterase Deficiency" EXACT []
synonym: "end plate acetylcholinesterase deficiency" EXACT []
synonym: "Engel congenital myasthenic syndrome" EXACT []
xref: MESH:C566415
xref: NCI:C129304
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome

[Term]
id: DOID:0110668
name: congenital myasthenic syndrome 10
alt_id: DOID:0110638
alt_id: MIM:254300
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22884442/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/16917026 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"]
synonym: "CMS10" EXACT []
synonym: "CMS1B (formerly)" RELATED []
synonym: "CMS Ib" EXACT []
synonym: "CMS Ib (formerly)" RELATED []
synonym: "congenital muscular dystrophy merosin-positive" EXACT []
synonym: "congenital myasthenic syndrome type Ib" EXACT []
synonym: "congenital myasthenic syndrome type IB (formerly)" RELATED []
synonym: "LGM" EXACT []
synonym: "LGM (formerly)" RELATED []
synonym: "myasthenic myopathy (formerly)" RELATED []
xref: MESH:C536089
xref: MESH:C563716
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome

[Term]
id: DOID:0110669
name: congenital myasthenic syndrome 14
alt_id: RDO:9001468
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23404334 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24461433 "DO"]
synonym: "CMS14" EXACT []
synonym: "CMSTA3" EXACT []
synonym: "congenital myasthenic syndrome 14, with tubular aggregates" EXACT []
synonym: "congenital myasthenic syndrome with tubular aggregates 3" EXACT []
xref: MIM:616228
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: rgd
creation_date: 2017-03-13T00:00:00Z

[Term]
id: DOID:0110670
name: congenital myasthenic syndrome 9
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15496425 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"]
synonym: "CMS9" EXACT []
synonym: "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency" EXACT []
xref: MIM:616325
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: rgd
creation_date: 2017-03-27T00:00:00Z

[Term]
id: DOID:0110671
name: congenital myasthenic syndrome 6
alt_id: MIM:254210
alt_id: OMIA:002072
alt_id: RDO:0001050
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11172068 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12756141 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"]
synonym: "CMS1A2" EXACT []
synonym: "CMS6" EXACT []
synonym: "CMSEA" EXACT []
synonym: "CMS Ia2" EXACT []
synonym: "congenital myasthenic syndrome 6, presynaptic" EXACT []
synonym: "congenital myasthenic syndrome associated with episodic apnea" EXACT []
synonym: "congenital myasthenic syndrome, CHAT-related" EXACT []
synonym: "congenital myasthenic syndrome, due to CHAT" EXACT []
synonym: "congenital myasthenic syndrome type 1a" EXACT []
synonym: "congenital myasthenic syndrome type Ia" EXACT []
synonym: "congenital myasthenic syndrome type Ia2" EXACT []
synonym: "congenital myasthenic syndrome with episodic apnea" EXACT []
synonym: "congenital presynaptic myasthenic syndrome associated with episodic apnea" EXACT []
synonym: "FIM" EXACT []
synonym: "FIMG2" EXACT []
synonym: "Myasthenia familial infantile" EXACT []
synonym: "MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2" EXACT []
xref: MESH:C535759
xref: NCI:C132292
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome
is_a: DOID:437 ! myasthenia gravis
is_a: DOID:9004992 ! Apnea

[Term]
id: DOID:0110672
name: congenital myasthenic syndrome 21
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20123977 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27590285 "DO"]
synonym: "CMS21" EXACT []
synonym: "congenital myasthenic syndrome 21, presynaptic" EXACT []
xref: MIM:617239
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: rgd
creation_date: 2017-03-27T00:00:00Z

[Term]
id: DOID:0110673
name: congenital myasthenic syndrome 19
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26626625 "DO"]
synonym: "CMS19" EXACT []
synonym: "COL13A1-RELATED CONDITION" EXACT []
xref: MIM:616720
xref: MONDO:0014745
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: rgd
creation_date: 2016-01-14T00:00:00Z

[Term]
id: DOID:0110674
name: congenital myasthenic syndrome 17
def: "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24234652 "DO"]
synonym: "CMS17" EXACT []
xref: MIM:616304
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: rgd
creation_date: 2017-03-27T00:00:00Z

[Term]
id: DOID:0110675
name: congenital myasthenic syndrome 11
alt_id: MIM:616326
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12651869 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"]
synonym: "CMS11" EXACT []
synonym: "CMS1E" EXACT []
synonym: "CMS IE" EXACT []
synonym: "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency" EXACT []
synonym: "congenital myasthenic syndrome 1E" EXACT []
synonym: "congenital myasthenic syndrome IE" EXACT []
xref: MESH:C563831
xref: NCI:C177546
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome
is_a: DOID:9008585 ! Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:0110676
name: congenital myasthenic syndrome 13
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16870884 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22742743 "DO"]
synonym: "CMS13" EXACT []
synonym: "CMSTA2" EXACT []
synonym: "congenital myasthenic syndrome 13 with tubular aggregates" EXACT []
synonym: "congenital myasthenic syndrome with tubular aggregates 2" EXACT []
xref: MIM:614750
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome

[Term]
id: DOID:0110677
name: congenital myasthenic syndrome 4B
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8755487 "DO"]
synonym: "CMS4B" EXACT []
synonym: "congenital myasthenic syndrome 4B, fast-channel" EXACT []
xref: MIM:616324
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9006988 ! Congenital Myasthenic Syndrome, Fast-Channel
is_a: DOID:9008786 ! congenital myasthenic syndrome 4
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0110678
name: congenital myasthenic syndrome 4A
alt_id: MIM:605809
def: "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12141316 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7531341 "DO"]
synonym: "CMS1A1" EXACT []
synonym: "CMS4A" EXACT []
synonym: "CMS Ia1" EXACT []
synonym: "congenital myasthenic syndrome 4A, slow-channel" EXACT []
synonym: "Congenital Myasthenic Syndrome Type Ia1" EXACT []
synonym: "congenital myasthenic syndrometype Ia1" EXACT []
synonym: "Myasthenia, Familial Infantile, 1" EXACT []
xref: MESH:C565289
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9008786 ! congenital myasthenic syndrome 4

[Term]
id: DOID:0110679
name: congenital myasthenic syndrome 4C
alt_id: MIM:608931
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8957026 "DO"]
synonym: "CMS1D" EXACT []
synonym: "CMS4C" EXACT []
synonym: "CMS Id" EXACT []
synonym: "congenital myasthenic syndrome 4C, associated with acetylcholine receptor deficiency" EXACT []
synonym: "congenital myasthenic syndrome type Id" EXACT []
synonym: "familial infantile myasthenia 1" EXACT []
synonym: "familial infantile myasthenia 1 (formerly)" RELATED []
synonym: "FIM1" EXACT []
synonym: "FIM1 (formerly)" RELATED []
synonym: "Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency" EXACT []
synonym: "postsynaptic congenital myasthenic syndrome associated with acetylcholine receptor deficiency" EXACT []
xref: MESH:C536090
xref: NCI:C174216
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9008786 ! congenital myasthenic syndrome 4

[Term]
id: DOID:0110680
name: congenital myasthenic syndrome 2C
alt_id: RDO:9004859
def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10562302 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"]
synonym: "CMS2C" EXACT []
synonym: "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency" EXACT []
xref: MIM:616314
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome
is_a: DOID:9008585 ! Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:0110681
name: congenital myasthenic syndrome 2A
alt_id: RDO:9003082
def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8872460 "DO"]
synonym: "CMS2A" EXACT []
synonym: "CMS IIA" EXACT []
synonym: "congenital myasthenic syndrome 2A slow-channel" EXACT []
xref: MIM:616313
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0110682
name: congenital myasthenic syndrome 16
alt_id: MIM:614198
alt_id: RDO:0014367
alt_id: RDO:9000585
def: "A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12766226 "DO"]
synonym: "CMS16" EXACT []
synonym: "congenital myasthenic syndrome, acetazolamide-responsive" EXACT []
synonym: "myasthenic syndrome due to mutation in SCN4A" EXACT []
xref: MESH:C565830
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3635 ! congenital myasthenic syndrome

[Term]
id: DOID:0110683
name: congenital myasthenic syndrome 18
def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25381298 "DO"]
synonym: "CMS18" EXACT []
synonym: "congenital myasthenic syndrome 18 with intellectual disability and ataxia" NARROW []
xref: MIM:616330
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: rgd
creation_date: 2017-03-10T00:00:00Z

[Term]
id: DOID:0110698
name: hypotrichosis 1
def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10878665 "DO"]
synonym: "hereditary generalized hypotrichosis simplex" EXACT []
synonym: "hereditary generelized hypotrichosis simplex" EXACT []
synonym: "hereditary hypotrichosis simplex" EXACT []
synonym: "HHS" EXACT []
synonym: "HTS" EXACT []
synonym: "hypotrichosis simplex" EXACT []
synonym: "HYPT1" EXACT []
xref: MESH:C537160
xref: MIM:605389
xref: MONDO:0011549
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:0110699
name: hypotrichosis 2
def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12754508 "DO"]
synonym: "HTSS" EXACT []
synonym: "HTSS1" EXACT []
synonym: "hypotrichosis simplex of scalp" EXACT []
synonym: "hypotrichosis simplex of the scalp 1" EXACT []
synonym: "hypotrichosis, Spanish type" EXACT []
synonym: "HYPT2" EXACT []
xref: MESH:C564143
xref: MIM:146520
xref: MONDO:0007805
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:0110700
name: hypotrichosis 3
def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21188418 "DO"]
synonym: "HTSS2" EXACT []
synonym: "HYPOTRICHOSIS SIMPLEX OF THE SCALP 2" EXACT []
synonym: "HYPT3" EXACT []
xref: MIM:613981
xref: MONDO:0013514
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:0110701
name: hypotrichosis 4
def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19122663 "DO"]
synonym: "HYPT4" EXACT []
synonym: "Marie Unna congenital hypotrichosis" EXACT []
synonym: "Marie Unna hereditary hypotrichosis" EXACT []
synonym: "Marie Unna hereditary hypotrichosis 1" EXACT []
synonym: "Marie Unna type hypotrichosis" EXACT []
synonym: "Marie Unna type hypotrichosis 1" EXACT []
synonym: "MUHH1" EXACT []
xref: MESH:C535912
xref: MESH:C567718
xref: MIM:146550
xref: MONDO:0100522
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:0110702
name: hypotrichosis 5
def: "A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16185270 "DO"]
synonym: "HYPT5" EXACT []
synonym: "Marie Unna hereditary hypotrichosis 2" EXACT []
synonym: "MUHH2" EXACT []
xref: MESH:C567554
xref: MIM:612841
xref: MONDO:0013017
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:0110703
name: hypotrichosis 6
def: "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12891384 "DO"]
synonym: "HTL" EXACT []
synonym: "HYPT6" EXACT []
synonym: "LAH" EXACT []
synonym: "LAH1" EXACT []
synonym: "localized hypotrichosis, autosomal recessive" EXACT []
synonym: "localized hypotrichosis, autosomal recessive 1" EXACT []
synonym: "MONILETHRIX-LIKE HYPOTRICHOSIS" EXACT []
xref: MESH:C564312
xref: MIM:607903
xref: MONDO:0011932
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:0110704
name: hypotrichosis 7
def: "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20393562 "DO"]
synonym: "alopecia universalis congenita, Mari type" EXACT []
synonym: "Hypotrichosis, Autosomal Recessive" BROAD []
synonym: "Hypotrichosis, Localized, Autosomal Recessive, 2" EXACT []
synonym: "HYPT7" EXACT []
synonym: "LAH2" EXACT []
synonym: "total hypotrichosis, Mari type" EXACT []
synonym: "total hyptrichosis, Mari type" EXACT []
synonym: "woolly hair, autosomal recessive 2, with or without hypotrichosis" BROAD []
xref: EFO:0009163
xref: MESH:C536973
xref: MIM:604379
xref: MONDO:0011452
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:987 ! alopecia
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0110705
name: hypotrichosis 8
def: "A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18297072 "DO"]
synonym: "ARWH1" NARROW []
synonym: "autosomal recessive woolly hair 1, with or without hypotrichosis" NARROW []
synonym: "HYPT8" EXACT []
synonym: "LAH3" EXACT []
synonym: "localized hypotrichosis, autosomal recessive 3" EXACT []
xref: MESH:C566950
xref: MIM:278150
xref: MONDO:0010206
xref: ORDO:55654
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:0110706
name: hypotrichosis 9
def: "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20054564 "DO"]
synonym: "HYPT9" EXACT []
xref: MIM:614237
xref: MONDO:0013649
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4535 ! hypotrichosis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0110707
name: hypotrichosis 10
def: "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20544222 "DO"]
synonym: "HYPT10" EXACT []
xref: MIM:614238
xref: MONDO:0013650
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4535 ! hypotrichosis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0110708
name: hypotrichosis 11
def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23246290 "DO"]
synonym: "HYPT11" EXACT []
xref: MIM:615059
xref: MONDO:0014027
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:0110709
name: hypotrichosis 12
def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21412954 "DO"]
synonym: "hypotrichosis type 12" EXACT []
synonym: "HYPT12" EXACT []
xref: MIM:615885
xref: MONDO:0014384
xref: ORDO:55654
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4535 ! hypotrichosis
created_by: rgd
creation_date: 2017-04-27T00:00:00Z

[Term]
id: DOID:0110710
name: hypotrichosis 13
def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22592156 "DO"]
synonym: "hypotrichosis with woolly hair" EXACT []
synonym: "HYPT13" EXACT []
xref: MIM:615896
xref: MONDO:0014390
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4535 ! hypotrichosis
created_by: rgd
creation_date: 2017-04-27T00:00:00Z

[Term]
id: DOID:0110711
name: congenital hypotrichosis with juvenile macular dystrophy
def: "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11544476 "DO"]
synonym: "CDH3-RELATED CONDITION" BROAD []
synonym: "HJMD" EXACT []
synonym: "hypotrichosis with cone-rod dystrophy" EXACT []
synonym: "HYPOTRICHOSIS WITH JUVENILE MACULAR DYSTROPHY" EXACT []
synonym: "juvenile macular degeneration and hypotrichosis" EXACT []
synonym: "juvenile macular dystrophy and congenital hypotrichosis" EXACT []
xref: GARD:3066
xref: MESH:C537698
xref: MIM:601553
xref: MONDO:0011107
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:4448 ! macular degeneration
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:0110712
name: Oguchi disease-1
def: "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15234147 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7670478 "DO"]
synonym: "congenital stationary night blindness Oguchi type 1" EXACT []
synonym: "CSNBO1" EXACT []
xref: MIM:258100
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0050737 ! autosomal recessive disease
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0110713
name: Oguchi disease-2
def: "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7670478 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9020843 "DO"]
synonym: "congenital stationary night blindness Oguchi type 2" EXACT []
synonym: "CSNBO2" EXACT []
xref: MIM:613411
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0050737 ! autosomal recessive disease
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0110714
name: congenital stationary night blindness 1G
alt_id: RDO:9001516
def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22190596 "DO"]
synonym: "congenital stationary night blindness type 1G" EXACT []
synonym: "CSNB1G" EXACT []
xref: MIM:616389
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0050737 ! autosomal recessive disease
created_by: rgd
creation_date: 2017-03-30T00:00:00Z

[Term]
id: DOID:0110715
name: congenital stationary night blindness autosomal dominant 3
alt_id: MIM:610444
def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8673138 "DO"]
synonym: "CSNBAD3" EXACT []
synonym: "Nougaret type congenital stationary night blindness" EXACT []
xref: MESH:C566475
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110716
name: Warburg micro syndrome 1
def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20512159 "DO"]
synonym: "Micro Syndrome 1" EXACT []
synonym: "RAB3GAP1-RELATED CONDITION" BROAD []
synonym: "RAB3GAP1-RELATED DISORDER" BROAD []
synonym: "WARBM1" EXACT []
xref: MIM:600118
xref: MONDO:0010822
is_a: DOID:0060237 ! Warburg micro syndrome
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0110717
name: Warburg micro syndrome 2
alt_id: RDO:9000855
def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20967465 "DO"]
synonym: "MICRO SYNDROME 2" EXACT []
synonym: "WARBM2" EXACT []
xref: MIM:614225
is_a: DOID:0060237 ! Warburg micro syndrome

[Term]
id: DOID:0110718
name: Warburg micro syndrome 3
alt_id: RDO:9000856
def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15216543 "DO"]
synonym: "MICRO SYNDROME 3" EXACT []
synonym: "WARBM3" EXACT []
xref: ICD10CM:Q87.0
xref: MIM:614222
is_a: DOID:0060237 ! Warburg micro syndrome

[Term]
id: DOID:0110719
name: Warburg micro syndrome 4
def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24239381 "DO"]
synonym: "micro syndrome 4" EXACT []
synonym: "WARBM4" EXACT []
xref: MIM:615663
is_a: DOID:0060237 ! Warburg micro syndrome

[Term]
id: DOID:0110720
name: neuronal ceroid lipofuscinosis 4
def: "A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21820099 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22073189 "DO"]
synonym: "autosomal dominant neuronal ceroid lipofuscinosis 4B" EXACT []
synonym: "autosomal dominant neuronal ceroid lipofuscinosis 4B (Kufs type)" EXACT []
synonym: "CLN4B" EXACT []
synonym: "CLN4B disease" EXACT []
synonym: "Kufs disease, autosomal dominant" EXACT []
synonym: "neuronal ceroid lipofuscinosis 4B" EXACT []
synonym: "neuronal ceroid lipofuscinosis 4 Parry type" EXACT []
xref: MIM:162350
xref: NCI:C128116
xref: ORDO:228343
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0110721
name: neuronal ceroid lipofuscinosis 1
def: "A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7637805 "DO"]
synonym: "CLN1" EXACT []
synonym: "INCL" EXACT []
synonym: "infantile neuronal ceroid lipofuscinosis (INCL)" EXACT []
synonym: "neuronal ceroid lipofuscinosis 1, infantile" EXACT []
synonym: "neuronal ceroid lipofuscinosis 1, variable age of onset" EXACT []
synonym: "neuronal ceroid lipofuscinosis, infantile" EXACT []
synonym: "neuronal ceroid lipofuscinosis, infantile Finnish type" EXACT []
synonym: "PPT1-related condition" BROAD []
synonym: "Santavuori disease" EXACT []
synonym: "Santavuori-Haltia disease" EXACT []
xref: GARD:1219
xref: MESH:C537948
xref: MESH:C564953
xref: MIM:256730
xref: MONDO:0009744
xref: OMIA:001504
xref: ORDO:228329
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis

[Term]
id: DOID:0110722
name: neuronal ceroid lipofuscinosis 7
def: "A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17564970 "DO"]
synonym: "CLN7" EXACT []
xref: GARD:1220
xref: MESH:C563989
xref: MIM:610951
xref: MONDO:0012588
xref: OMIA:001962
xref: ORDO:228366
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis

[Term]
id: DOID:0110723
name: neuronal ceroid lipofuscinosis 8
alt_id: MIM:600143
alt_id: OMIA:001506
def: "A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15024724 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15074367 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15965709 "DO"]
synonym: "CLN8" EXACT []
xref: MESH:C537952
xref: ORDO:228354
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis

[Term]
id: DOID:0110724
name: neuronal ceroid lipofuscinosis 8 northern epilepsy variant
def: "A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8014963 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8743986 "DO"]
synonym: "EPMR" EXACT []
synonym: "Northern epilepsy" EXACT []
synonym: "Northern epilepsy syndrome" EXACT []
synonym: "Northern epilepsy variant" EXACT []
synonym: "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant" EXACT []
synonym: "progressive epilepsy-intellectual disability syndrome, Finnish type" EXACT []
synonym: "progressive epilepsy with mental retardation" EXACT []
synonym: "progressive epilepsy with mental retardation, northern epilepsy" EXACT []
xref: GARD:2163
xref: GARD:4010
xref: MIM:610003
xref: ORDO:1947
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0110725
name: neuronal ceroid lipofuscinosis 10
alt_id: MIM:610127
alt_id: OMIA:001505
def: "A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16685649 "DO"]
synonym: "cathepsin D deficiency" EXACT []
synonym: "Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient" EXACT []
synonym: "CLN10" EXACT []
synonym: "congenital neuronal ceroid lipofuscinosis" EXACT []
synonym: "neuronal ceroid lipofuscinosis due to cathepsin D deficiency" EXACT []
synonym: "NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY  NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL" NARROW []
xref: GARD:1218
xref: MESH:C566438
xref: ORDO:228337
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis

[Term]
id: DOID:0110726
name: neuronal ceroid lipofuscinosis 2
alt_id: MIM:204500
alt_id: OMIA:001472
def: "A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15965709 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18684116 "DO"]
synonym: "CLN2" EXACT []
synonym: "Jansky-Bielschowsky disease" EXACT []
synonym: "LINCL" RELATED []
synonym: "neuronal ceroid lipofuscinosis 2 variable age at onset" EXACT []
synonym: "NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE" RELATED []
synonym: "neuronal ceroid lipofuscinosis type 2" EXACT []
synonym: "TPP1-RELATED CONDITION" BROAD []
xref: GARD:3045
xref: MESH:C566857
xref: MONDO:0008769
xref: NCI:C85864
xref: ORDO:228349
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis

[Term]
id: DOID:0110727
name: neuronal ceroid lipofuscinosis 13
def: "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23297359 "DO"]
synonym: "CLN13" EXACT []
synonym: "neuronal ceroid lipofuscinosis 13 Kufs type" EXACT []
xref: ICD10CM:E75.4
xref: MIM:615362
xref: ORDO:352709
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis

[Term]
id: DOID:0110728
name: neuronal ceroid lipofuscinosis 5
def: "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15965709 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9662406 "DO"]
synonym: "CLN5" EXACT []
synonym: "Finnish vLINCL" NARROW []
synonym: "neuronal ceroid lipofuscinosis 5, variable age at onset" EXACT []
synonym: "neuronal ceroid lipofuscinosis 5 variable age of onset" EXACT []
synonym: "neuronal ceroid lipofuscinosis, Finnish variant, late infantile" NARROW []
synonym: "vLINCL" BROAD []
xref: GARD:1223
xref: MESH:C575534
xref: MIM:256731
xref: MONDO:0009745
xref: OMIA:001482
xref: ORDO:228360
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis

[Term]
id: DOID:0110729
name: neuronal ceroid lipofuscinosis 6A
alt_id: MIM:601780
alt_id: OMIA:001443
def: "A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15965709 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15996215 "DO"]
synonym: "CLN6" EXACT []
synonym: "CLN6A" EXACT []
synonym: "neuronal ceroid lipofuscinosis 6" EXACT []
synonym: "neuronal ceroid lipofuscinosis 6 variable age of onset" EXACT []
synonym: "neuronal ceroid lipofuscinosis, late infantile variant" BROAD []
synonym: "vLINCL" BROAD []
xref: GARD:1224
xref: MESH:C566627
xref: ORDO:228363
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis

[Term]
id: DOID:0110730
name: neuronal ceroid lipofuscinosis 6B
def: "A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15965709 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21549341 "DO"]
synonym: "CLN4A" EXACT []
synonym: "CLN6B" EXACT []
synonym: "neuronal ceroid lipofuscinosis 4A" EXACT []
synonym: "neuronal ceroid lipofuscinosis 4A (Kufs type), autosomal recessive" EXACT []
synonym: "neuronal ceroid lipofuscinosis 4A, autosomal recessive" EXACT []
xref: MIM:204300
xref: ORDO:228340
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0110731
name: neuronal ceroid lipofuscinosis 3
def: "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. (DO)" [https://ghr.nlm.nih.gov/condition/cln3-disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/15965709 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7553855 "DO"]
synonym: "Batten disease" EXACT []
synonym: "Batten Spielmeyer Vogt disease" EXACT []
synonym: "CLN3" EXACT []
synonym: "CLN3-related neuronal ceroid lipofuscinoses" EXACT []
synonym: "CLN3-related neuronal ceroid lipofuscinosis" EXACT []
synonym: "JNCL" EXACT []
synonym: "Juvenile Batten Disease" EXACT []
synonym: "Juvenile Batten Diseases" EXACT []
synonym: "Juvenile Neuronal Ceroid Lipofuscinosis" EXACT []
synonym: "juvenile neuronal ceroid lipofuscinosis 3" EXACT []
synonym: "neuronal ceroid lipofuscinosis, juvenile type" EXACT []
synonym: "protracted neuronal ceroid lipofuscinosis 3" NARROW []
synonym: "Spielmeyer Sjogren disease" EXACT []
synonym: "Spielmeyer-Sjogren diseases" EXACT []
synonym: "Vogt-Spielmeyer disease" EXACT []
synonym: "Vogt-Spielmeyer diseases" EXACT []
xref: GARD:5897
xref: MIM:204200
xref: MONDO:0008767
xref: NCI:C61258
xref: ORDO:228346
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis
created_by: rgd
creation_date: 2016-09-06T00:00:00Z

[Term]
id: DOID:0110732
name: neuronal ceroid lipofuscinosis 11
def: "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22608501 "DO"]
synonym: "CLN11" EXACT []
xref: MIM:614706
xref: MONDO:0013866
xref: ORDO:314629
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis

[Term]
id: DOID:0110733
name: neuronal ceroid lipofuscinosis 9
alt_id: MIM:609055
def: "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seizures. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15349861 "DO"]
synonym: "CLN9" EXACT []
xref: GARD:6618
xref: MESH:C537953
xref: ORDO:228357
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis

[Term]
id: DOID:0110734
name: neurodegeneration with brain iron accumulation
alt_id: OMIA:002105
alt_id: RDO:0004395
def: "A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. (DO)" [https://rarediseases.info.nih.gov/diseases/11899/index "DO", https://www.ncbi.nlm.nih.gov/pubmed/18981035 "DO", https://www.ninds.nih.gov/Disorders/All-Disorders/Neurodegeneration-Brain-Iron-Accumulation-Information-Page "DO"]
synonym: "Iron Accumulation In Brain" RELATED []
synonym: "NBIA" EXACT []
synonym: "Neuroaxonal dystrophy, PLA2G6-related" NARROW []
synonym: "Neurodegeneration with brain iron accumulation (NBIA)" EXACT []
synonym: "Neurodegeneration with brain iron accumulation 1, atypical" NARROW []
xref: GARD:11899
xref: MESH:C538421
xref: MIM:PS234200
xref: ORDO:385
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:2351 ! iron metabolism disease
is_a: DOID:2367 ! neuroaxonal dystrophy

[Term]
id: DOID:0110735
name: neurodegeneration with brain iron accumulation 2A
def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life. (DO)" [https://omim.org/entry/256600 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18443314 "DO"]
synonym: "INAD" EXACT []
synonym: "INAD1" EXACT []
synonym: "infantile neuroaxonal dystrophy" EXACT []
synonym: "Infantile neuroaxonal dystrophy 1" EXACT []
synonym: "NBIA2A" EXACT []
synonym: "neurodegeneration, PLA2G6-associated" EXACT []
synonym: "PLAN" EXACT []
synonym: "Seitelberger's disease" EXACT []
synonym: "Seitelberger disease" EXACT []
synonym: "Seitelbergers disease" EXACT []
xref: GARD:2751
xref: MIM:256600
xref: NCI:C202073
xref: NCI:C84927
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation

[Term]
id: DOID:0110736
name: neurodegeneration with brain iron accumulation 2B
alt_id: MIM:610217
def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18799783 "DO"]
synonym: "atypical neuroaxonal dystrophy" EXACT []
synonym: "NBIA2B" EXACT []
synonym: "NEUROAXONAL DYSTROPHY, ATYPICAL  KARAK SYNDROME" NARROW []
synonym: "Neurodegeneration With Brain Iron Accumulation, PLA2G6-Related" EXACT []
xref: MESH:C565699
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation

[Term]
id: DOID:0110737
name: neurodegeneration with brain iron accumulation 3
alt_id: MIM:606159
def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16116125 "DO"]
synonym: "adult basal ganglia disease" EXACT []
synonym: "basal ganglia disease, adult-onset" EXACT []
synonym: "ferritin-related neurodegeneration" EXACT []
synonym: "hereditary ferritinopathy" EXACT []
synonym: "NBIA3" EXACT []
synonym: "neuroferritinopathy" EXACT []
synonym: "neuroferritinopathy; basal ganglia disease, adult-onset" EXACT []
xref: MESH:C548080
xref: ORDO:157846
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation

[Term]
id: DOID:0110738
name: neurodegeneration with brain iron accumulation 4
def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23269600 "DO"]
synonym: "MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION" EXACT []
synonym: "MPAN" EXACT []
synonym: "NBIA4" EXACT []
synonym: "NBIA due to C19orf12 mutation" EXACT []
synonym: "neurodegeneration with brain iron accumulation due to C19orf12 mutation" EXACT []
synonym: "neurodegeneration with brain iron accumulation type 4" EXACT []
xref: MIM:614298
xref: NCI:C175707
xref: ORDO:289560
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation

[Term]
id: DOID:0110739
name: neurodegeneration with brain iron accumulation 5
def: "A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23176820 "DO"]
synonym: "BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION" EXACT []
synonym: "BPAN" EXACT []
synonym: "NBIA5" EXACT []
synonym: "SENDA" EXACT []
synonym: "STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD" EXACT []
xref: MIM:300894
xref: NCI:C175210
xref: ORDO:329284
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation

[Term]
id: DOID:0110740
name: neurodegeneration with brain iron accumulation 6
def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24360804 "DO"]
synonym: "COASY protein-associated neurodegeneration" EXACT []
synonym: "COASY-RELATED CONDITION" BROAD []
synonym: "CoPAN" EXACT []
synonym: "NBIA6" EXACT []
synonym: "Neurodegeneration with brain iron accumulation due to COASY mutation" EXACT []
xref: ICD10CM:G23.0
xref: MIM:615643
xref: MONDO:0014290
xref: ORDO:397725
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation

[Term]
id: DOID:0110741
name: type 1 diabetes mellitus 2
alt_id: MIM:125852
def: "A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6363172 "DO"]
synonym: "IDDM2" EXACT []
synonym: "insulin-dependent diabetes mellitus 2" EXACT []
synonym: "T1D2" EXACT []
xref: MESH:C565100
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110742
name: type 1 diabetes mellitus 3
alt_id: MIM:600318
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7842018 "DO"]
synonym: "IDDM3" EXACT []
synonym: "insulin-dependent diabetes mellitus 3" EXACT []
synonym: "T1D3" EXACT []
xref: MESH:C563960
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110743
name: type 1 diabetes mellitus 4
alt_id: MIM:600319
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9683605 "DO"]
synonym: "IDDM4" EXACT []
synonym: "insulin-dependent diabetes mellitus 4" EXACT []
synonym: "T1D4" EXACT []
xref: MESH:C563959
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110744
name: type 1 diabetes mellitus 5
alt_id: MIM:600320
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15247916 "DO"]
synonym: "IDDM5" EXACT []
synonym: "insulin-dependent diabetes mellitus 5" EXACT []
synonym: "T1D5" EXACT []
xref: MESH:C563958
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110745
name: type 1 diabetes mellitus 6
alt_id: MIM:601941
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9215667 "DO"]
synonym: "AITD5" NARROW []
synonym: "autoimmune thyroid disease, susceptibility to, 5" NARROW []
synonym: "IDDM6" EXACT []
synonym: "insulin-dependent diabetes mellitus 6" EXACT []
synonym: "T1D6" EXACT []
xref: MESH:C566603
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110746
name: type 1 diabetes mellitus 7
alt_id: MIM:600321
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7704030 "DO"]
synonym: "IDDM7" EXACT []
synonym: "insulin-dependent diabetes mellitus 7" EXACT []
synonym: "T1D7" EXACT []
xref: MESH:C563957
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110747
name: type 1 diabetes mellitus 8
alt_id: MIM:600883
def: "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7573053 "DO"]
synonym: "IDDM8" EXACT []
synonym: "insulin-dependent diabetes mellitus 8" EXACT []
synonym: "T1D8" EXACT []
xref: MESH:C563433
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110749
name: type 1 diabetes mellitus 10
alt_id: MIM:601942
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8072542 "DO"]
synonym: "IDDM10" EXACT []
synonym: "insulin-dependent diabetes mellitus 10" EXACT []
synonym: "T1D10" EXACT []
xref: MESH:C566602
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110750
name: type 1 diabetes mellitus 11
alt_id: MIM:601208
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8617492 "DO"]
synonym: "IDDM11" EXACT []
synonym: "insulin-dependent diabetes mellitus 11" EXACT []
synonym: "T1D11" EXACT []
xref: MESH:C563371
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110751
name: type 1 diabetes mellitus 12
alt_id: MIM:601388
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8817351 "DO"]
synonym: "IDDM12" EXACT []
synonym: "insulin-dependent diabetes mellitus 12" EXACT []
synonym: "T1D12" EXACT []
xref: MESH:C563326
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110752
name: type 1 diabetes mellitus 13
alt_id: MIM:601318
def: "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8650584 "DO"]
synonym: "IDDM13" EXACT []
synonym: "insulin-dependent diabetes mellitus 13" EXACT []
synonym: "T1D13" EXACT []
xref: MESH:C563352
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110753
name: type 1 diabetes mellitus 15
alt_id: MIM:601666
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8981961 "DO"]
synonym: "IDDM15" EXACT []
synonym: "insulin-dependent diabetes mellitus 15" EXACT []
synonym: "T1D15" EXACT []
xref: MESH:C566645
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110754
name: type 1 diabetes mellitus 17
alt_id: MIM:603266
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9788970 "DO"]
synonym: "IDDM17" EXACT []
synonym: "insulin-dependent diabetes mellitus 17" EXACT []
synonym: "T1D17" EXACT []
xref: MESH:C566395
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110755
name: type 1 diabetes mellitus 18
alt_id: MIM:605598
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11175794 "DO"]
synonym: "IDDM18" EXACT []
synonym: "insulin-dependent diabetes mellitus 18" EXACT []
synonym: "T1D18" EXACT []
xref: ICD10CM:E10
xref: MESH:C565315
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110756
name: type 1 diabetes mellitus 19
alt_id: MIM:610155
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16699517 "DO"]
synonym: "IDDM19" EXACT []
synonym: "insulin-dependent diabetes mellitus 19" EXACT []
synonym: "T1D19" EXACT []
xref: MESH:C565715
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110757
name: type 1 diabetes mellitus 20
alt_id: MIM:612520
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9313763 "DO"]
synonym: "IDDM20" EXACT []
synonym: "insulin-dependent diabetes mellitus 20" EXACT []
synonym: "T1D20" EXACT []
xref: MESH:C567286
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110758
name: type 1 diabetes mellitus 21
alt_id: MIM:612521
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19073967 "DO"]
synonym: "IDDM21" EXACT []
synonym: "insulin-dependent diabetes mellitus 21" EXACT []
synonym: "T1D21" EXACT []
xref: MESH:C567285
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110759
name: type 1 diabetes mellitus 22
alt_id: MIM:612522
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19073967 "DO"]
synonym: "IDDM22" EXACT []
synonym: "insulin-dependent diabetes mellitus 22" EXACT []
synonym: "T1D22" EXACT []
xref: MESH:C567284
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110760
name: type 1 diabetes mellitus 23
alt_id: MIM:612622
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8072542 "DO"]
synonym: "IDDM23" EXACT []
synonym: "insulin-dependent diabetes mellitus 23" EXACT []
synonym: "T1D23" EXACT []
xref: MESH:C567233
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110761
name: type 1 diabetes mellitus 24
alt_id: MIM:613006
def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19430480 "DO"]
synonym: "IDDM24" EXACT []
synonym: "insulin-dependent diabetes mellitus 24" EXACT []
synonym: "T1D24" EXACT []
xref: MESH:C567818
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:0110763
name: hereditary spastic paraplegia 10
alt_id: MIM:604187
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12355402 "DO"]
synonym: "autosomal dominant spastic paraplegia" BROAD []
synonym: "autosomal dominant spastic paraplegia 10" EXACT []
synonym: "autosomal dominant spastic paraplegia type 10" EXACT []
synonym: "spastic paraplegia 10 with or without peripheral neuropathy" EXACT []
synonym: "SPG10" EXACT []
xref: GARD:9590
xref: MESH:C537482
xref: ORDO:100991
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110764
name: hereditary spastic paraplegia 11
alt_id: MESH:C538335
alt_id: MIM:604360
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17322883 "DO"]
synonym: "autosomal recessive spastic paraplegia 11" EXACT []
synonym: "autosomal recessive spastic paraplegia complicated with thin corpus callosum" EXACT []
synonym: "autosomal recessive spastic paraplegia type 11" EXACT []
synonym: "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum" EXACT []
synonym: "GAIT DISTURBANCE" NARROW []
synonym: "Hsp-Tcc" EXACT []
synonym: "Nakamura-Osame syndrome" EXACT []
synonym: "spastic paraplegia-intellectual disability-thin corpus callosum syndrome" EXACT []
synonym: "spastic paraplegia, mental retardation and thin corpus callosum" EXACT []
synonym: "spastic paraplegia type 11" EXACT []
synonym: "SPG11" EXACT []
synonym: "SPG11-related hereditary spastic paraplegia with thin corpus callosum" EXACT []
xref: GARD:4919
xref: MESH:C537483
xref: ORDO:2822
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9001999 ! Agenesis of Corpus Callosum

[Term]
id: DOID:0110765
name: hereditary spastic paraplegia 12
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22232211 "DO"]
synonym: "autosomal dominant spastic paraplegia 12" EXACT []
synonym: "autosomal dominant spastic paraplegia type 12" EXACT []
synonym: "SPG12" EXACT []
xref: GARD:9586
xref: MESH:C537484
xref: MIM:604805
xref: MONDO:0011489
xref: ORDO:100993
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110766
name: hereditary spastic paraplegia 13
alt_id: MIM:605280
alt_id: RDO:0003331
def: "A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11898127 "DO"]
synonym: "autosomal dominant spastic paraplegia 13" EXACT []
synonym: "SPG13" EXACT []
xref: GARD:9616
xref: MESH:C537485
xref: ORDO:100994
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110767
name: hereditary spastic paraplegia 14
alt_id: MIM:605229
alt_id: RDO:0003332
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10877981 "DO"]
synonym: "autosomal recessive spastic paraplegia 14" EXACT []
synonym: "autosomal recessive spastic paraplegia type 14" EXACT []
synonym: "SPG14" EXACT []
xref: GARD:9589
xref: MESH:C537486
xref: ORDO:100995
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110768
name: hereditary spastic paraplegia 15
alt_id: MIM:270700
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18394578 "DO"]
synonym: "autosomal recessive spastic paraplegia 15" EXACT []
synonym: "autosomal recessive spastic paraplegia type 15" EXACT []
synonym: "hereditary spastic paraparesis type 15" EXACT []
synonym: "Kjellin syndrome" EXACT []
synonym: "recessive spastic paraplegia with retinal degeneration" EXACT []
synonym: "spastic paraplegia 15" EXACT []
synonym: "spastic paraplegia and retinal degeneration" EXACT []
synonym: "spastic paraplegia-retinal degeneration syndrome" EXACT []
synonym: "SPG15" EXACT []
xref: GARD:9581
xref: MESH:C536642
xref: ORDO:100996
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:0110769
name: hereditary spastic paraplegia 16
alt_id: MIM:300266
alt_id: RDO:0002283
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9254866 "DO"]
synonym: "SPG16" EXACT []
synonym: "X-linked spastic paraplegia 16" EXACT []
synonym: "X-linked spastic paraplegia type 16" EXACT []
xref: GARD:9585
xref: MESH:C536643
xref: ORDO:100997
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110770
name: hereditary spastic paraplegia 17
alt_id: MIM:270685
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14981520 "DO"]
synonym: "autosomal dominant spastic paraplegia 17" EXACT []
synonym: "autosomal dominant spastic paraplegia type 17" EXACT []
synonym: "dHMN5B" RELATED []
synonym: "distal hereditary motor neuropathy type 5B" RELATED []
synonym: "Silver spastic paraplegia syndrome" EXACT []
synonym: "Silver syndrome" EXACT []
synonym: "spastic paraplegia 17" EXACT []
synonym: "spastic paraplegia-amyotrophy of hands and feet" EXACT []
synonym: "spastic paraplegia with amyotrophy of hands and feet" EXACT []
synonym: "SPG17" EXACT []
xref: GARD:4219
xref: MESH:C536644
xref: ORDO:100998
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110771
name: hereditary spastic paraplegia 18
alt_id: MIM:611225
alt_id: MIM:620512
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21330303 "DO"]
synonym: "autosomal dominant spastic paraplegia 18A" NARROW []
synonym: "autosomal recessive spastic paraplegia 18" EXACT []
synonym: "autosomal recessive spastic paraplegia 18B" NARROW []
synonym: "autosomal recessive spastic paraplegia type 18" EXACT []
synonym: "IDMDC" EXACT []
synonym: "intellectual disability, motor dysfunction, and joint contractures" EXACT []
synonym: "SPG18" EXACT []
synonym: "SPG18A" NARROW []
synonym: "SPG18B" NARROW []
xref: GARD:4922
xref: MESH:C567628
xref: ORDO:209951
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:0110772
name: hereditary spastic paraplegia 19
alt_id: MIM:607152
alt_id: RDO:0002569
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12112072 "DO"]
synonym: "autosomal dominant spastic paraplegia 19" EXACT []
synonym: "autosomal dominant spastic paraplegia type 19" EXACT []
synonym: "SPG19" EXACT []
xref: GARD:9588
xref: MESH:C536856
xref: ORDO:100999
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110773
name: hereditary spastic paraplegia 2
alt_id: MIM:312920
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8012387 "DO"]
synonym: "spastic paraplegia 2" EXACT []
synonym: "spastic paraplegia type 2" EXACT []
synonym: "SPG2" EXACT []
synonym: "SPPX2" EXACT []
synonym: "X-linked spastic paraplegia 2" EXACT []
xref: GARD:4923
xref: MESH:C536857
xref: ORDO:99015
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110774
name: hereditary spastic paraplegia 23
alt_id: MIM:270750
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14681889 "DO"]
synonym: "Abdallat Davis Farrage syndrome" EXACT []
synonym: "Abdallat syndrome" EXACT []
synonym: "DSTYK-RELATED CONDITION" BROAD []
synonym: "Lison syndrome" EXACT []
synonym: "spastic paraparesis, vitiligo, premature graying, characteristic facies" EXACT []
synonym: "Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome" EXACT []
synonym: "spastic paraplegia 23" EXACT []
synonym: "spastic paraplegia and pigmentary abnormalities" EXACT []
synonym: "spastic paraplegia, vitiligo, premature graying and characteristic facies" EXACT []
synonym: "spastic paraplegia with pigmentary abnormalities" EXACT []
synonym: "SPG23" EXACT []
xref: GARD:336
xref: MESH:C536859
xref: ORDO:101003
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12306 ! vitiligo
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:0110775
name: hereditary spastic paraplegia 24
alt_id: MESH:C564375
alt_id: MIM:607584
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12499481 "DO"]
synonym: "autosomal recessive spastic paraplegia 24" EXACT []
synonym: "autosomal recessive spastic paraplegia type 24" EXACT []
synonym: "SPG24" EXACT []
xref: GARD:9296
xref: MESH:C536860
xref: ORDO:101004
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:0110776
name: hereditary spastic paraplegia 25
alt_id: MIM:608220
alt_id: RDO:0002574
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12070243 "DO"]
synonym: "autosomal recessive spastic paraplegia 25" EXACT []
synonym: "autosomal recessive spastic paraplegia type 25" EXACT []
synonym: "Disc Herniation With Spastic Paraplegia, Autosomal Recessive" EXACT []
synonym: "SPG25" EXACT []
synonym: "Spinal disc herniation with autosomal recessive spastic paraplegia" EXACT []
xref: GARD:9582
xref: MESH:C536861
xref: ORDO:101005
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9006086 ! Intervertebral Disc Displacement

[Term]
id: DOID:0110777
name: hereditary spastic paraplegia 26
alt_id: MIM:609195
alt_id: RDO:0002575
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23746551 "DO"]
synonym: "autosomal recessive spastic paraplegia 26" EXACT []
synonym: "autosomal recessive spastic paraplegia type 26" EXACT []
synonym: "GM2 synthase deficiency" EXACT []
synonym: "SPG26" EXACT []
xref: GARD:9587
xref: MESH:C536862
xref: ORDO:101006
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110778
name: hereditary spastic paraplegia 27
alt_id: MIM:609041
alt_id: RDO:0012972
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15455396 "DO"]
synonym: "autosomal recessive spastic paraplegia 27" EXACT []
synonym: "autosomal recessive spastic paraplegia type 27" EXACT []
synonym: "SPG27" EXACT []
xref: MESH:C563807
xref: ORDO:101007
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110779
name: hereditary spastic paraplegia 28
alt_id: MIM:609340
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23176821 "DO"]
synonym: "autosomal recessive spastic paraplegia 28" EXACT []
synonym: "autosomal recessive spastic paraplegia type 28" EXACT []
synonym: "SPG28" EXACT []
xref: MESH:C563732
xref: ORDO:101008
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110780
name: hereditary spastic paraplegia 29
alt_id: MIM:609727
alt_id: RDO:0002576
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16130112 "DO"]
synonym: "autosomal dominant spastic paraplegia 29" EXACT []
synonym: "SPG29" EXACT []
xref: GARD:9729
xref: MESH:C536863
xref: ORDO:101009
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110781
name: hereditary spastic paraplegia 30
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31488895/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/21487076 "DO"]
synonym: "autosomal dominant spastic paraplegia 30" NARROW []
synonym: "autosomal recessive spastic paraplegia 30" NARROW []
synonym: "autosomal spastic paraplegia type 30" EXACT []
synonym: "SPG30" EXACT []
xref: ORDO:101010
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110782
name: hereditary spastic paraplegia 31
alt_id: MIM:610250
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16826527 "DO"]
synonym: "autosomal dominant spastic paraplegia 31" EXACT []
synonym: "autosomal dominant spastic paraplegia type 31" EXACT []
synonym: "SPG31" EXACT []
xref: GARD:10817
xref: MESH:C565210
xref: ORDO:101011
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110783
name: hereditary spastic paraplegia 32
alt_id: MIM:611252
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17515546 "DO"]
synonym: "autosomal recessive spastic paraplegia 32" EXACT []
synonym: "autosomal recessive spastic paraplegia type 32" EXACT []
synonym: "SPG32" EXACT []
xref: GARD:12749
xref: MESH:C566983
xref: ORDO:171622
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110784
name: hereditary spastic paraplegia 33
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16826525 "DO"]
synonym: "autosomal dominant spastic paraplegia 33" EXACT []
synonym: "SPASTIC TETRAPARESIS" NARROW []
synonym: "SPG33" EXACT []
xref: MESH:C565214
xref: MIM:610244
xref: MONDO:0012448
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110785
name: hereditary spastic paraplegia 34
alt_id: MIM:300750
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12210342 "DO"]
synonym: "SPG34" EXACT []
synonym: "X-linked spastic paraplegia 34" EXACT []
synonym: "X-linked spastic paraplegia type 34" EXACT []
xref: MESH:C567465
xref: ORDO:171607
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110786
name: hereditary spastic paraplegia 35
alt_id: MIM:612319
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19068277 "DO"]
synonym: "autosomal recessive spastic paraplegia 35" EXACT []
synonym: "autosomal recessive spastic paraplegia 35, with or without neurodegeneration" EXACT []
synonym: "autosomal recessive spastic paraplegia type 35" EXACT []
synonym: "dysmyelinating leukodystrophy and spastic paraparesis" EXACT []
synonym: "dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia" EXACT []
synonym: "FAHN" EXACT []
synonym: "Fatty Acid Hydroxylase-Associated Neurodegeneration" EXACT []
synonym: "spastic paraplegia 35" EXACT []
synonym: "spastic paraplegia type 35" EXACT []
synonym: "SPG35" EXACT []
xref: MESH:C567311
xref: MESH:C580102
xref: NCI:C188989
xref: ORDO:171629
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110787
name: hereditary spastic paraplegia 36
alt_id: MIM:613096
alt_id: RDO:0012081
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19357379 "DO"]
synonym: "autosomal dominant spastic paraplegia 36" EXACT []
synonym: "autosomal dominant spastic paraplegia type 36" EXACT []
synonym: "Spg36" EXACT []
xref: MESH:C567930
xref: ORDO:320365
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110788
name: hereditary spastic paraplegia 37
alt_id: MIM:611945
alt_id: RDO:0012082
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17605047 "DO"]
synonym: "autosomal dominant spastic paraplegia 37" EXACT []
synonym: "autosomal dominant spastic paraplegia type 37" EXACT []
synonym: "SPG37" EXACT []
xref: MESH:C567931
xref: ORDO:171612
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110789
name: hereditary spastic paraplegia 38
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18401025 "DO"]
synonym: "autosomal dominant spastic paraplegia 38" EXACT []
synonym: "autosomal dominant spastic paraplegia type 38" EXACT []
synonym: "SPG38" EXACT []
xref: MESH:C567349
xref: MIM:612335
xref: MONDO:0012867
xref: ORDO:171617
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110790
name: hereditary spastic paraplegia 39
alt_id: MIM:612020
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18313024 "DO"]
synonym: "autosomal recessive spastic paraplegia 39" EXACT []
synonym: "autosomal recessive spastic paraplegia type 39" EXACT []
synonym: "NTEMND" EXACT []
synonym: "NTE-related motor neuron disorder" EXACT []
synonym: "spastic paraplegia 39" EXACT []
synonym: "spastic paraplegia due to neuropathy target esterase mutation" EXACT []
synonym: "spastic paraplegia due to NTE mutation" EXACT []
synonym: "SPG39" EXACT []
xref: GARD:4924
xref: MESH:C567433
xref: ORDO:139480
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110791
name: hereditary spastic paraplegia 3A
alt_id: MIM:182600
def: "A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11685207 "DO"]
synonym: "autosomal dominant familial spastic paraplegia 1" EXACT []
synonym: "autosomal dominant spastic paraplegia 3" EXACT []
synonym: "autosomal dominant spastic paraplegia type 3" EXACT []
synonym: "FSP1" EXACT []
synonym: "spastic paraplegia 3" EXACT []
synonym: "spastic paraplegia 3A" EXACT []
synonym: "spastic paraplegia type 3A" EXACT []
synonym: "SPG3" EXACT []
synonym: "SPG3A" EXACT []
synonym: "Strumpell disease" EXACT []
xref: GARD:5041
xref: MESH:C536864
xref: NCI:C142893
xref: ORDO:100984
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110792
name: hereditary spastic paraplegia 4
alt_id: MIM:182601
def: "A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9302257 "DO"]
synonym: "autosomal dominant spastic paraplegia 4" EXACT []
synonym: "autosomal dominant spastic paraplegia type 4" EXACT []
synonym: "familial spastic paraplegia autosomal dominant 2" EXACT []
synonym: "FSP2" EXACT []
synonym: "spastic paraplegia 4" EXACT []
synonym: "spastic paraplegia 4, modifier of" RELATED []
synonym: "spastic paraplegia type 4" EXACT []
synonym: "SPG4" EXACT []
xref: MESH:C536865
xref: MESH:C580456
xref: NCI:C129981
xref: ORDO:100985
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110793
name: hereditary spastic paraplegia 41
alt_id: RDO:0009824
def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18364116 "DO"]
synonym: "autosomal dominant spastic paraplegia 41" EXACT []
synonym: "autosomal dominant spastic paraplegia type 41" EXACT []
synonym: "SPG41" EXACT []
xref: MIM:613364
xref: ORDO:320355
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110794
name: hereditary spastic paraplegia 42
alt_id: MIM:612539
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19061983 "DO"]
synonym: "autosomal dominant spastic paraplegia 42" EXACT []
synonym: "autosomal dominant spastic paraplegia type 42" EXACT []
synonym: "SPG42" EXACT []
xref: MESH:C567262
xref: ORDO:171863
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110795
name: hereditary spastic paraplegia 43
alt_id: RDO:9001077
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23857908 "DO"]
synonym: "autosomal recessive spastic paraplegia 43" EXACT []
synonym: "autosomal recessive spastic paraplegia type 43" EXACT []
synonym: "SPG43" EXACT []
xref: MIM:615043
xref: ORDO:320370
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110796
name: hereditary spastic paraplegia 44
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19056803 "DO"]
synonym: "autosomal recessive spastic paraplegia 44" EXACT []
synonym: "spastic paraplegia 44" EXACT []
synonym: "SPG44" EXACT []
xref: MESH:C567707
xref: MIM:613206
xref: MONDO:0013179
xref: ORDO:320401
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110797
name: hereditary spastic paraplegia 45
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482476 "DO"]
synonym: "autosomal recessive spastic paraplegia 45" EXACT []
synonym: "autosomal recessive spastic paraplegia type 45" EXACT []
synonym: "autosomal recessive spastic paraplegia type 65" EXACT []
synonym: "SPG45" EXACT []
synonym: "SPG65" EXACT []
xref: MIM:613162
xref: ORDO:320396
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110798
name: hereditary spastic paraplegia 46
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23332916 "DO"]
synonym: "autosomal recessive spastic paraplegia 46" EXACT []
synonym: "autosomal recessive spastic paraplegia type 46" EXACT []
synonym: "SPG46" EXACT []
xref: MIM:614409
xref: ORDO:320391
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110799
name: hereditary spastic paraplegia 47
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21620353 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22290197 "DO"]
synonym: "AP4-RELATED INTELLECTUAL DISABILITY AND SPASTIC PARAPLEGIA" EXACT []
synonym: "autosomal recessive spastic paraplegia 47" EXACT []
synonym: "CPSQ5" EXACT []
synonym: "spastic quadriplegic cerebral palsy 5" EXACT []
synonym: "SPG47" EXACT []
xref: MIM:614066
xref: ORDO:280763
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10970 ! spastic quadriplegic cerebral palsy
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110800
name: hereditary spastic paraplegia 48
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20613862 "DO"]
synonym: "autosomal recessive spastic paraplegia 48" EXACT []
synonym: "autosomal recessive spastic paraplegia type 48" EXACT []
synonym: "spastic paraplegia 48" EXACT []
synonym: "SPG48" EXACT []
xref: MIM:613647
xref: ORDO:306511
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110801
name: hereditary spastic paraplegia 49
alt_id: OMIA:001975
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23176824 "DO"]
synonym: "autosomal recessive spastic paraplegia 49" EXACT []
synonym: "autosomal recessive spastic paraplegia type 49" EXACT []
synonym: "hereditary sensory and autonomic neuropathy type IX, with developmental delay" EXACT []
synonym: "HSAN9" EXACT []
synonym: "INHERITED SPASTIC PARESIS" EXACT []
synonym: "SPG49" EXACT []
xref: MIM:615031
xref: ORDO:320385
is_a: DOID:0050548 ! hereditary sensory neuropathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110802
name: hereditary spastic paraplegia 50
alt_id: MIM:612936
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK535153/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/19559397 "DO"]
synonym: "adaptor protein complex 4 deficiency" EXACT []
synonym: "AP-4-associated hereditary spastic paraplegia" EXACT []
synonym: "AP-4 deficiency syndrome" EXACT []
synonym: "autosomal recessive spastic paraplegia 50" EXACT []
synonym: "SPG50" EXACT []
xref: MESH:C567858
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10970 ! spastic quadriplegic cerebral palsy
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110803
name: hereditary spastic paraplegia 51
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20972249 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21620353 "DO"]
synonym: "AP4E1-RELATED CONDITION" BROAD []
synonym: "autosomal dominant spastic paraplegia 51" EXACT []
synonym: "CPSQ4" EXACT []
synonym: "spastic quadriplegic cerebral palsy 4" EXACT []
synonym: "SPG51" EXACT []
xref: GARD:10999
xref: MIM:613744
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10970 ! spastic quadriplegic cerebral palsy
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110804
name: hereditary spastic paraplegia 52
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21620353 "DO"]
synonym: "autosomal recessive spastic paraplegia 52" EXACT []
synonym: "Cerebral Palsy, Spastic Quadriplegic, 6" EXACT []
synonym: "CPSQ6" EXACT []
synonym: "SPG52" EXACT []
xref: MIM:614067
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10970 ! spastic quadriplegic cerebral palsy
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110805
name: hereditary spastic paraplegia 53
alt_id: RDO:9001082
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22717650 "DO"]
synonym: "autosomal recessive spastic paraplegia 53" EXACT []
synonym: "autosomal recessive spastic paraplegia type 53" EXACT []
synonym: "SPG53" EXACT []
xref: MIM:614898
xref: ORDO:319199
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110806
name: hereditary spastic paraplegia 54
alt_id: RDO:9001083
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23176823 "DO"]
synonym: "autosomal recessive spastic paraplegia 54" EXACT []
synonym: "autosomal recessive spastic paraplegia type 54" EXACT []
synonym: "SPG54" EXACT []
xref: MIM:615033
xref: ORDO:320380
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110807
name: hereditary spastic paraplegia 55
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23188110 "DO"]
synonym: "autosomal recessive spastic paraplegia 55" EXACT []
synonym: "autosomal recessive spastic paraplegia type 55" EXACT []
synonym: "SPG55" EXACT []
xref: MIM:615035
xref: ORDO:320375
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110808
name: hereditary spastic paraplegia 56
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23176821 "DO"]
synonym: "autosomal recessive spastic paraplegia 56" EXACT []
synonym: "autosomal recessive spastic paraplegia-56 with or without pseudoxanthoma elasticum" EXACT []
synonym: "autosomal recessive spastic paraplegia type 56" EXACT []
synonym: "SPG56" EXACT []
xref: MIM:615030
xref: ORDO:320411
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110809
name: hereditary spastic paraplegia 57
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23479643 "DO"]
synonym: "autosomal recessive spastic paraplegia 57" EXACT []
synonym: "autosomal recessive spastic paraplegia type 57" EXACT []
synonym: "SPG57" EXACT []
xref: EFO:0009017
xref: MIM:615658
xref: ORDO:431329
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110810
name: hereditary spastic paraplegia 5A
def: "A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252231 "DO"]
synonym: "autosomal recessive spastic paraplegia 5A" EXACT []
synonym: "autosomal recessive spastic paraplegia type 5A" EXACT []
synonym: "SPG5A" EXACT []
xref: GARD:4926
xref: MESH:C536871
xref: MESH:C564811
xref: MIM:270800
xref: MONDO:0010047
xref: ORDO:100986
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110811
name: hereditary spastic paraplegia 6
alt_id: MIM:600363
def: "A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14508710 "DO"]
synonym: "autosomal dominant familial spastic paraplegia type 3" EXACT []
synonym: "autosomal dominant spastic paraplegia 6" EXACT []
synonym: "autosomal dominant spastic paraplegia type 6" EXACT []
synonym: "familial spastic paraplegia, autosomal dominant 3" EXACT []
synonym: "FSP3" EXACT []
synonym: "NIPA1-RELATED CONDITION" EXACT []
synonym: "spastic paraplegia 6" EXACT []
synonym: "SPG6" EXACT []
xref: ICD10CM:G11.4
xref: MESH:C536866
xref: ORDO:100988
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110812
name: hereditary spastic paraplegia 61
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482476 "DO"]
synonym: "autosomal recessive spastic paraplegia 61" EXACT []
synonym: "autosomal recessive spastic paraplegia type 61" EXACT []
synonym: "spastic paraplegia-61" EXACT []
synonym: "SPG61" EXACT []
xref: MIM:615685
xref: ORDO:401780
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110813
name: hereditary spastic paraplegia 62
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482476 "DO"]
synonym: "autosomal recessive spastic paraplegia 62" EXACT []
synonym: "autosomal recessive spastic paraplegia type 62" EXACT []
synonym: "spastic paraplegia-62" EXACT []
synonym: "SPG62" EXACT []
xref: MIM:615681
xref: MONDO:0014302
xref: ORDO:401785
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110814
name: hereditary spastic paraplegia 63
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482476 "DO"]
synonym: "autosomal recessive spastic paraplegia 63" EXACT []
synonym: "spastic paraplegia 63" EXACT []
synonym: "SPG63" EXACT []
xref: MIM:615686
xref: ORDO:401805
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110815
name: hereditary spastic paraplegia 64
alt_id: RDO:9000756
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482476 "DO"]
synonym: "autosomal recessive spastic paraplegia 64" EXACT []
synonym: "autosomal recessive spastic paraplegia type 64" EXACT []
synonym: "SPG64" EXACT []
xref: MIM:615683
xref: ORDO:401810
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110816
name: hereditary spastic paraplegia 7
alt_id: MIM:607259
def: "A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9635427 "DO"]
synonym: "autosomal recessive spastic paraplegia 7" EXACT []
synonym: "hereditary spastic paraplegia, paraplegin type" EXACT []
synonym: "spastic paraplegia 7" EXACT []
synonym: "spastic paraplegia type 7" EXACT []
synonym: "SPG7" EXACT []
synonym: "SPG7-RELATED CONDITION" EXACT []
xref: MESH:C564599
xref: MESH:C580457
xref: NCI:C181657
xref: ORDO:99013
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110817
name: hereditary spastic paraplegia 72A
alt_id: MIM:620606
def: "A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24388663 "DO"]
synonym: "autosomal dominant spastic paraplegia type 72" NARROW []
synonym: "autosomal recessive spastic paraplegia type 72" NARROW []
synonym: "autosomal spastic paraplegia type 72" EXACT []
synonym: "hereditary spastic paraplegia 72" EXACT []
synonym: "spastic paraplegia 72, autosomal dominant" EXACT []
synonym: "spastic paraplegia 72, autosomal recessive" EXACT []
synonym: "spastic paraplegia 72B, autosomal recessive" RELATED []
synonym: "SPG72" EXACT []
synonym: "SPG72B" RELATED []
xref: MIM:615625
xref: ORDO:401849
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110818
name: hereditary spastic paraplegia 73
alt_id: RDO:9001558
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25751282 "DO"]
synonym: "autosomal dominant spastic paraplegia 73" EXACT []
synonym: "autosomal dominant spastic paraplegia type 73" EXACT []
synonym: "SPG73" EXACT []
xref: MIM:616282
xref: ORDO:444099
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110819
name: hereditary spastic paraplegia 74
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25609768 "DO"]
synonym: "autosomal recessive spastic paraplegia 74" EXACT []
synonym: "SPG74" EXACT []
xref: MIM:616451
xref: ORDO:468661
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110820
name: hereditary spastic paraplegia 75
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482476 "DO"]
synonym: "autosomal recessive spastic paraplegia 75" EXACT []
synonym: "autosomal recessive spastic paraplegia type 75" EXACT []
synonym: "SPG75" EXACT []
xref: EFO:0009018
xref: MIM:616680
xref: ORDO:459056
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1561 ! cognitive disorder
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110821
name: hereditary spastic paraplegia 76
alt_id: OMIA:001820
alt_id: RDO:9000338
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27153400 "DO"]
synonym: "autosomal recessive hereditary spastic paraplegia-76" EXACT []
synonym: "autosomal recessive spastic paraplegia 76" EXACT []
synonym: "AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76" EXACT []
synonym: "spastic paraplegia-76" EXACT []
synonym: "SPG76" EXACT []
synonym: "spinocerebellar ataxia, CAPN1-related" EXACT []
xref: EFO:0009019
xref: MIM:616907
xref: NCI:C157150
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110822
name: hereditary spastic paraplegia 77
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26553276 "DO"]
synonym: "autosomal recessive spastic paraplegia 77" EXACT []
synonym: "SPG77" EXACT []
xref: MIM:617046
xref: ORDO:466722
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110823
name: hereditary spastic paraplegia 8
alt_id: MIM:603563
alt_id: RDO:0002580
alt_id: RDO:0015929
def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17160902 "DO"]
synonym: "autosomal dominant spastic paraplegia 8" EXACT []
synonym: "autosomal dominant spastic paraplegia type 8" EXACT []
synonym: "Spastic Paraplegia 8" EXACT []
synonym: "spastic paraplegia type 8" EXACT []
synonym: "SPG8" EXACT []
synonym: "Spg 8" EXACT []
synonym: "WASHC5-RELATED CONDITION" BROAD []
xref: GARD:9591
xref: MESH:C580458
xref: ORDO:100989
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110824
name: hereditary spastic paraplegia 9A
alt_id: MIM:601162
def: "A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26026163 "DO"]
synonym: "AD-SPG9A" EXACT []
synonym: "autosomal dominant complex spastic paraplegia type 9A" EXACT []
synonym: "autosomal dominant spastic paraparesis" EXACT []
synonym: "autosomal dominant spastic paraplegia 9A" EXACT []
synonym: "bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy" EXACT []
synonym: "cataracts, motor neuronopathy, short stature and skeletal abnormalities" EXACT []
synonym: "Cataracts motor neuropathy-short stature-skeletal anomalies syndrome" EXACT []
synonym: "cataracts with motor neuronopathy, short stature, and skeletal abnormalities" EXACT []
synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" EXACT []
synonym: "spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux" EXACT []
synonym: "spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux" EXACT []
synonym: "SPG9A" EXACT []
xref: MESH:C536868
xref: ORDO:100990
xref: ORDO:447753
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:83 ! cataract
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:0110825
name: hereditary spastic paraplegia 9B
alt_id: RDO:9001562
def: "A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26026163 "DO"]
synonym: "autosomal recessive complex spastic paraplegia type 9B" EXACT []
synonym: "autosomal recessive spastic paraplegia 9B" EXACT []
synonym: "SPG9B" EXACT []
xref: MIM:616586
xref: ORDO:447760
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:0110826
name: Usher syndrome type 1
def: "An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. (DO)" [https://ghr.nlm.nih.gov/condition/usher-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1265/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/2909824 "DO"]
synonym: "US1" EXACT []
synonym: "USH1" EXACT []
synonym: "Usher Syndrome, Type I" EXACT []
xref: NCI:C126327
xref: ORDO:231169
is_a: DOID:0050439 ! Usher syndrome

[Term]
id: DOID:0110827
name: Usher syndrome type 2
def: "An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. (DO)" [https://ghr.nlm.nih.gov/condition/usher-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1341/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/2909824 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9624053 "DO"]
synonym: "USH2" EXACT []
synonym: "Usher Syndrome, Type II" EXACT []
xref: NCI:C126328
xref: ORDO:231178
is_a: DOID:0050439 ! Usher syndrome

[Term]
id: DOID:0110828
name: Usher syndrome type 3
def: "An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life. (DO)" [https://ghr.nlm.nih.gov/condition/usher-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/2909824 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8864816 "DO"]
synonym: "USH3" EXACT []
synonym: "Usher Syndrome, Type III" EXACT []
xref: GARD:5442
is_a: DOID:0050439 ! Usher syndrome
created_by: rgd
creation_date: 2015-10-06T00:00:00Z

[Term]
id: DOID:0110829
name: retinitis pigmentosa-deafness syndrome
def: "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10090882 "DO"]
synonym: "CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS" RELATED []
synonym: "retinitis pigmentosa 21" RELATED []
synonym: "retinitis pigmentosa 8" RELATED []
synonym: "RP21" RELATED []
synonym: "RP8" RELATED []
xref: GARD:4684
xref: MIM:500004
xref: NCI:C126329
xref: ORDO:231183
is_a: DOID:0050439 ! Usher syndrome
is_a: DOID:0050736 ! autosomal dominant disease
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:0110830
name: Usher syndrome type 1C
alt_id: MIM:276904
def: "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10973247 "DO"]
synonym: "USH1C" EXACT []
synonym: "Usher syndrome, Acadian variety" EXACT []
synonym: "Usher syndrome type I Acadian variety" EXACT []
synonym: "Usher syndrome type IC" EXACT []
xref: MESH:C536486
xref: MESH:C564753
is_a: DOID:0110826 ! Usher syndrome type 1

[Term]
id: DOID:0110831
name: Usher syndrome type 1D
def: "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11138009 "DO"]
synonym: "USH1D" EXACT []
synonym: "Usher syndrome, type ID" EXACT []
xref: MESH:C536487
xref: MESH:C563400
xref: MIM:601067
xref: MONDO:0010984
is_a: DOID:0080578 ! digenic disease
is_a: DOID:0110826 ! Usher syndrome type 1

[Term]
id: DOID:0110832
name: Usher syndrome type 1F
alt_id: MIM:602083
alt_id: RDO:0011990
def: "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11398101 "DO"]
synonym: "USH1F" EXACT []
synonym: "Usher syndrome type IF" EXACT []
xref: MESH:C536489
xref: MESH:C566586
xref: RDO:0002091
is_a: DOID:0110826 ! Usher syndrome type 1

[Term]
id: DOID:0110833
name: Usher syndrome type 1E
alt_id: MIM:602097
alt_id: RDO:0011989
def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9002666 "DO"]
synonym: "USH1E" EXACT []
synonym: "USHER SYNDROME, TYPE IE" EXACT []
xref: MESH:C536488
xref: MESH:C566577
xref: RDO:0002090
is_a: DOID:0110826 ! Usher syndrome type 1

[Term]
id: DOID:0110834
name: Usher syndrome type 1G
alt_id: MIM:606943
def: "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12588794 "DO"]
synonym: "USH1G" EXACT []
synonym: "USH1G-RELATED CONDITION" EXACT []
synonym: "USH1G-RELATED DISORDER" EXACT []
synonym: "USH1G-RELATED DISORDERS" EXACT []
synonym: "Usher syndrome type IG" EXACT []
xref: MESH:C564643
xref: RDO:0011956
is_a: DOID:0110826 ! Usher syndrome type 1

[Term]
id: DOID:0110835
name: Usher syndrome type 1H
alt_id: MIM:612632
def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18505454 "DO"]
synonym: "USH1H" EXACT []
synonym: "Usher syndrome type IH" EXACT []
xref: MESH:C567227
xref: RDO:0012007
is_a: DOID:0110826 ! Usher syndrome type 1

[Term]
id: DOID:0110836
name: Usher syndrome type 1J
alt_id: RDO:0012127
def: "An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23023331 "DO"]
synonym: "USH1J" EXACT []
synonym: "Usher syndrome 1J" EXACT []
synonym: "Usher syndrome type IJ" EXACT []
xref: MIM:614869
is_a: DOID:0110826 ! Usher syndrome type 1

[Term]
id: DOID:0110837
name: Usher syndrome type 1K
alt_id: RDO:9004229
def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22718019 "DO"]
synonym: "USH1K" EXACT []
synonym: "Usher syndrome type IK" EXACT []
xref: MIM:614990
is_a: DOID:0110826 ! Usher syndrome type 1
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0110838
name: Usher syndrome type 2A
alt_id: MIM:276901
def: "An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9624053 "DO"]
synonym: "USH2A" EXACT []
synonym: "USH2A-RELATED CONDITION" BROAD []
synonym: "USH2A-related disorder" BROAD []
synonym: "Usher syndrome, type IIA" EXACT []
xref: GARD:5440
xref: MESH:C536490
is_a: DOID:0110827 ! Usher syndrome type 2

[Term]
id: DOID:0110839
name: Usher syndrome type 2C
alt_id: MIM:605472
def: "An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14740321 "DO"]
synonym: "ADGRV1-RELATED CONDITION" BROAD []
synonym: "ADGRV1-RELATED DISORDER" BROAD []
synonym: "USH2B" NARROW []
synonym: "USH2C" EXACT []
synonym: "Usher syndrome IIC" EXACT []
synonym: "Usher Syndrome Type 2c, GPR98/PDZD Digenic" NARROW []
synonym: "Usher Syndrome, Type IIC" EXACT []
synonym: "Usher syndrome, Type IIC, GPR98/PDZD7 digenic" NARROW []
xref: MESH:C536492
xref: NCI:C153174
is_a: DOID:0080578 ! digenic disease
is_a: DOID:0110827 ! Usher syndrome type 2

[Term]
id: DOID:0110840
name: Usher syndrome type 2D
def: "An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17171570 "DO"]
synonym: "USH2D" EXACT []
synonym: "Usher Syndrome, Type IID" EXACT []
xref: MIM:611383
xref: MONDO:0012662
is_a: DOID:0110827 ! Usher syndrome type 2

[Term]
id: DOID:0110841
name: Usher syndrome type 3A
alt_id: RDO:0008520
def: "An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11524702 "DO"]
synonym: "USH3A" EXACT []
synonym: "Usher syndrome type IIIA" EXACT []
xref: MIM:276902
is_a: DOID:0110828 ! Usher syndrome type 3

[Term]
id: DOID:0110842
name: Usher syndrome type 3B
alt_id: RDO:9000848
def: "An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22279524 "DO"]
synonym: "USH3B" EXACT []
synonym: "Usher Syndrome, Type IIIB" EXACT []
xref: MIM:614504
is_a: DOID:0110828 ! Usher syndrome type 3

[Term]
id: DOID:0110843
name: xeroderma pigmentosum group A
alt_id: RDO:9003067
def: "A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2168777 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2234061 "DO"]
synonym: "xeroderma pigmentosum 1" EXACT []
synonym: "xeroderma pigmentosum complementation group A" EXACT []
synonym: "xeroderma pigmentosum I" EXACT []
synonym: "XP1" EXACT []
synonym: "XPA" EXACT []
synonym: "XP group A" EXACT []
xref: MIM:278700
xref: NCI:C3965
is_a: DOID:0050427 ! xeroderma pigmentosum
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0110844
name: xeroderma pigmentosum group C
alt_id: MIM:278720
def: "A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6696469 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8298653 "DO"]
synonym: "Xeroderma Pigmentosum, Complementation Group C" EXACT []
synonym: "xeroderma pigmentosum III" EXACT []
synonym: "XP3" EXACT []
synonym: "XPC" EXACT []
synonym: "XPCC" EXACT []
synonym: "XP group C" EXACT []
xref: MESH:C567886
xref: NCI:C114770
is_a: DOID:0050427 ! xeroderma pigmentosum

[Term]
id: DOID:0110845
name: xeroderma pigmentosum group D
alt_id: MIM:278730
alt_id: RDO:0012239
def: "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7849702 "DO"]
synonym: "xeroderma pigmentosum IV" EXACT []
synonym: "xeroderma pigmentosum VIII" EXACT []
synonym: "XP4" EXACT []
synonym: "XP4 XERODERMA PIGMENTOSUM VIII" EXACT []
synonym: "XP8" EXACT []
synonym: "XPD" EXACT []
synonym: "XPDC" EXACT []
synonym: "XP, Group D" EXACT []
synonym: "XP, group H" EXACT []
synonym: "XPH" EXACT []
xref: MESH:C562591
is_a: DOID:0050427 ! xeroderma pigmentosum

[Term]
id: DOID:0110846
name: xeroderma pigmentosum group E
alt_id: MIM:278740
def: "A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3339259 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8798680 "DO"]
synonym: "Xeroderma Pigmentosum, Complementation Group E" EXACT []
synonym: "Xeroderma Pigmentosum V" EXACT []
synonym: "XP5" EXACT []
synonym: "XPE" EXACT []
synonym: "XP, Group E" EXACT []
xref: MESH:C564732
xref: NCI:C114771
xref: RDO:0013595
is_a: DOID:0050427 ! xeroderma pigmentosum

[Term]
id: DOID:0110847
name: xeroderma pigmentosum variant type
alt_id: MIM:278750
def: "A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10385124 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1054497 "DO"]
synonym: "Photosensitivity with defective DNA synthesis" EXACT []
synonym: "Xeroderma pigmentosum with normal DNA repair rates" EXACT []
synonym: "XPV" EXACT []
xref: GARD:5630
xref: MESH:C536766
xref: NCI:C141367
xref: RDO:0002449
is_a: DOID:0050427 ! xeroderma pigmentosum

[Term]
id: DOID:0110848
name: xeroderma pigmentosum group F
alt_id: MIM:278760
def: "A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23623389 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8797827 "DO"]
synonym: "Xeroderma Pigmentosum, Complementation Group F" EXACT []
synonym: "XERODERMA PIGMENTOSUM, TYPE F" EXACT []
synonym: "XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME" EXACT []
synonym: "XERODERMA PIGMENTOSUM VI" EXACT []
synonym: "XP6" EXACT []
synonym: "XP6  XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME" EXACT []
synonym: "XPF" EXACT []
synonym: "XPF/CS" EXACT []
synonym: "XP, Group F" EXACT []
xref: ICD10CM:Q82.1
xref: MESH:C562592
xref: NCI:C3968
xref: RDO:0012240
is_a: DOID:0050427 ! xeroderma pigmentosum

[Term]
id: DOID:0110849
name: xeroderma pigmentosum group G
alt_id: MIM:278780
def: "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11841555 "DO"]
synonym: "xeroderma pigmentosum, complementation group G" EXACT []
synonym: "xeroderma pigmentosum VII" NARROW []
synonym: "XP7" EXACT []
synonym: "XPG" EXACT []
synonym: "XPGC" EXACT []
synonym: "XP, group G" EXACT []
xref: MESH:C562593
xref: NCI:C3969
is_a: DOID:0050427 ! xeroderma pigmentosum

[Term]
id: DOID:0110850
name: xeroderma pigmentosum group B
alt_id: MIM:610651
alt_id: RDO:0012238
def: "A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16947863 "DO"]
synonym: "xeroderma pigmentosum, complementation group B" EXACT []
synonym: "XPB" EXACT []
synonym: "XPB/CS" NARROW []
synonym: "XPBC" EXACT []
synonym: "XPBC  XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME" NARROW []
synonym: "XP, GROUP B" NARROW []
xref: MESH:C562590
xref: NCI:C3966
is_a: DOID:0050427 ! xeroderma pigmentosum

[Term]
id: DOID:0110851
name: rhizomelic chondrodysplasia punctata type 1
def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15679822 "DO"]
synonym: "CDPR" EXACT []
synonym: "Chondrodystrophia calcificans punctata" EXACT []
synonym: "PBD9" EXACT []
synonym: "Peroxisome Biogenesis Disorder 9" EXACT []
synonym: "RCDP1" EXACT []
xref: GARD:6049
xref: MESH:C531651
xref: MIM:215100
xref: MONDO:0008972
xref: ORDO:309789
is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata

[Term]
id: DOID:0110852
name: rhizomelic chondrodysplasia punctata type 2
def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1405476 "DO"]
synonym: "Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency" EXACT []
synonym: "Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency" EXACT []
synonym: "DHAPAT deficiency" EXACT []
synonym: "Dihydroxyacetonephosphate acyltransferase deficiency" EXACT []
synonym: "Glyceronephosphate acyltransferase deficiency" EXACT []
synonym: "Glyceronephosphate O-Acyltransferase Deficiency" EXACT []
synonym: "GNPAT deficiency" EXACT []
synonym: "GNPAT-RELATED CONDITION" EXACT []
synonym: "Human dihydroxyacetonephosphate acyltransferase deficiency" EXACT []
synonym: "Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency" EXACT []
synonym: "RCDP2" EXACT []
xref: MESH:C537607
xref: MIM:222765
xref: MONDO:0009112
xref: ORDO:309796
is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata

[Term]
id: DOID:0110853
name: rhizomelic chondrodysplasia punctata type 3
def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22871920 "DO"]
synonym: "AGPS deficiency" EXACT []
synonym: "alkyldihydroxyacetonephosphate synthase deficiency" EXACT []
synonym: "alkylglycerone-phosphate synthase deficiency" EXACT []
synonym: "RCDP3" EXACT []
xref: MESH:C537608
xref: MIM:600121
xref: MONDO:0010823
xref: ORDO:309803
is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata

[Term]
id: DOID:0110854
name: rhizomelic chondrodysplasia punctata type 5
def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26220973 "DO"]
synonym: "RCDP5" EXACT []
xref: MIM:616716
xref: MONDO:0014743
xref: ORDO:468717
is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata

[Term]
id: DOID:0110855
name: posterior polymorphous corneal dystrophy 1
def: "A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26749309 "DO"]
synonym: "CHED1" EXACT []
synonym: "corneal endothelial dystrophy 1" EXACT []
synonym: "corneal endothelial dystrophy 1, autosomal dominant" EXACT []
synonym: "hereditary polymorphous posterior corneal dystrophy" EXACT []
synonym: "Maumenee corneal dystrophy" EXACT []
synonym: "PPCD1" EXACT []
xref: ICD10CM:H18.50
xref: MESH:C562745
xref: MESH:C565156
xref: MIM:122000
xref: MONDO:0007378
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy

[Term]
id: DOID:0110856
name: posterior polymorphous corneal dystrophy 2
def: "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11689488 "DO"]
synonym: "PPCD2" EXACT []
xref: MESH:C565176
xref: MIM:609140
xref: MONDO:0012199
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy

[Term]
id: DOID:0110857
name: posterior polymorphous corneal dystrophy 3
def: "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16252232 "DO"]
synonym: "PPCD3" EXACT []
xref: MESH:C563788
xref: MIM:609141
xref: MONDO:0012200
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy

[Term]
id: DOID:0110858
name: polycystic kidney disease 1
def: "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9650770 "DO"]
synonym: "adult polycystic kidney disease type 1" EXACT []
synonym: "adult polycystic kidney disease, type I" EXACT []
synonym: "APKD1" EXACT []
synonym: "PKD1" EXACT []
synonym: "PKD1-RELATED CONDITION" EXACT []
synonym: "polycystic kidney disease type 1" EXACT []
synonym: "polycystic kidney type 1, autosomal dominant disease" EXACT []
synonym: "Potter type III polycystic kidney disease" EXACT []
xref: MESH:C536326
xref: MESH:C566792
xref: MIM:173900
xref: MONDO:0008263
is_a: DOID:898 ! autosomal dominant polycystic kidney disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:0110859
name: polycystic kidney disease 2
def: "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7825585 "DO"]
synonym: "adult polycystic kidney disease type 2" EXACT []
synonym: "adult polycystic kidney disease, type II" EXACT []
synonym: "APKD2" EXACT []
synonym: "PKD2" EXACT []
synonym: "PKD2-RELATED CONDITION" EXACT []
synonym: "polycystic kidney disease, type 2" EXACT []
synonym: "polycystic kidney, type 2 autosomal dominant disease" EXACT []
xref: MIM:613095
xref: MONDO:0013131
is_a: DOID:898 ! autosomal dominant polycystic kidney disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0110860
name: polycystic kidney disease 3
def: "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27259053 "DO"]
synonym: "adult polycystic kidney disease, type 3" EXACT []
synonym: "adult polycystic kidney disease, type III" EXACT []
synonym: "APKD3" EXACT []
synonym: "PKD3" EXACT []
synonym: "POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE" EXACT []
synonym: "POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE" NARROW []
xref: MIM:600666
xref: MONDO:0010916
is_a: DOID:898 ! autosomal dominant polycystic kidney disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0110861
name: autosomal recessive polycystic kidney disease
def: "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. (DO)" [https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease "DO"]
synonym: "AR-PKD" EXACT []
synonym: "ARPKD" EXACT []
synonym: "autosomal recessive polycystic kidney" EXACT []
synonym: "congenital hepatic fibrosis" NARROW []
synonym: "Polycystic Kidney Disease, Infantile, Type I" EXACT []
xref: GARD:8378
xref: ICD10CM:Q61.1
xref: ICD9CM:753.14
xref: MESH:D017044
xref: MONDO:0009889
xref: NCI:C84579
xref: ORDO:731
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080322 ! polycystic kidney disease

[Term]
id: DOID:0110862
name: congenital stationary night blindness autosomal dominant 1
alt_id: MIM:610445
def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7846071 "DO"]
synonym: "CSNBAD1" EXACT []
synonym: "rhodopsin-related congenital stationary night blindness" EXACT []
xref: MESH:C566474
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110863
name: congenital stationary night blindness autosomal dominant 2
alt_id: MIM:163500
def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8075643 "DO"]
synonym: "congenital stationary night blindness, Rambusch type" EXACT []
synonym: "CSNBAD2" EXACT []
synonym: "PDE6B-RELATED CONDITION" BROAD []
synonym: "PDE6B-RELATED DISORDER" BROAD []
xref: MESH:C566869
xref: MONDO:0008099
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110864
name: congenital stationary night blindness 1F
def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23246293 "DO"]
synonym: "congenital stationary night blindness 1F autosomal recessive" EXACT []
synonym: "congenital stationary night blindness, type 1F" EXACT []
synonym: "CSNB1F" EXACT []
xref: MIM:615058
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110865
name: congenital stationary night blindness 1B
def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15781871 "DO"]
synonym: "congenital stationary night blindness 1B autosomal recessive" EXACT []
synonym: "congenital stationary night blindness, complete, autosomal recessive" EXACT []
synonym: "congenital stationary night blindness, type 1B" EXACT []
synonym: "CSNB1B" EXACT []
synonym: "CSNB, COMPLETE, AUTOSOMAL RECESSIVE" EXACT []
xref: MIM:257270
xref: MONDO:0009758
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110866
name: congenital stationary night blindness 1H
def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27063057 "DO"]
synonym: "congenital stationary night blindness type 1H" EXACT []
synonym: "CSNB1H" EXACT []
xref: MIM:617024
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0050737 ! autosomal recessive disease
created_by: rgd
creation_date: 2016-08-10T00:00:00Z

[Term]
id: DOID:0110867
name: congenital stationary night blindness 1C
alt_id: MIM:613216
alt_id: RDO:0009789
alt_id: RDO:0015700
def: "A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19878917 "DO"]
synonym: "congenital stationary night blindness 1C autosomal recessive" EXACT []
synonym: "congenital stationary night blindness, type 1C" EXACT []
synonym: "CSNB1C" EXACT []
synonym: "CSNB, complete, autosomal recessive" EXACT []
synonym: "TRPM1-RELATED CONDITION" EXACT []
xref: MESH:C567704
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110868
name: congenital stationary night blindness 1D
alt_id: RDO:9000617
def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20850105 "DO"]
synonym: "congenital stationary night blindness 1D autosomal recessive" EXACT []
synonym: "CONGENITAL STATIONARY NIGHT BLINDNESS, TYPE 1D" EXACT []
synonym: "CSNB1D" EXACT []
synonym: "CSNB, COMPLETE, AUTOSOMAL RECESSIVE" EXACT []
xref: MIM:613830
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110869
name: congenital stationary night blindness 1E
alt_id: RDO:9000618
def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22325361 "DO"]
synonym: "congenital stationary night blindness 1E autosomal recessive" EXACT []
synonym: "congenital stationary night blindness, type 1E" EXACT []
synonym: "CSNB1E" EXACT []
synonym: "CSNB, COMPLETE, AUTOSOMAL RECESSIVE" EXACT []
synonym: "GPR179-RELATED CONDITION" EXACT []
xref: MIM:614565
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110870
name: congenital stationary night blindness 1A
alt_id: RDO:0008703
def: "A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9662400 "DO"]
synonym: "congenital stationary night blindness 1A, X-linked" EXACT []
synonym: "congenital stationary night blindness, type 1A" EXACT []
synonym: "congenital stationary night blindness, with myopia" EXACT []
synonym: "CSNB1A" EXACT []
synonym: "CSNB, complete, X-linked" EXACT []
synonym: "myopia-night blindness" EXACT []
synonym: "NBMI" EXACT []
synonym: "NYX-RELATED CONDITION" BROAD []
xref: MIM:310500
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0110871
name: congenital stationary night blindness 2A
alt_id: RDO:0008547
def: "A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9662399 "DO"]
synonym: "congenital stationary night blindness 2A, X-linked" EXACT []
synonym: "congenital stationary night blindness, type 2" EXACT []
synonym: "congenital stationary night blindness type 2A" EXACT []
synonym: "congenital stationary night blindness type 2A, severe" NARROW []
synonym: "CSNB2" EXACT []
synonym: "CSNB2A" EXACT []
synonym: "CSNB, incomplete, X-linked" EXACT []
xref: MIM:300071
is_a: DOID:0050534 ! congenital stationary night blindness
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0110872
name: holoprosencephaly 2
alt_id: MIM:157170
def: "A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10369266 "DO"]
synonym: "HPE2" EXACT []
xref: MESH:C563579
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4621 ! holoprosencephaly

[Term]
id: DOID:0110873
name: holoprosencephaly 9
alt_id: MIM:610829
def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14581620 "DO"]
synonym: "CEREBELLAR CYST" NARROW []
synonym: "GLI2-RELATED CONDITION" BROAD []
synonym: "GLI2-related disorder" BROAD []
synonym: "HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES" EXACT []
synonym: "HPE9" EXACT []
synonym: "Pituitary Anomalies with Holoprosencephaly-Like Features" EXACT []
xref: MESH:C563659
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1148 ! polydactyly
is_a: DOID:4621 ! holoprosencephaly
is_a: DOID:9406 ! hypopituitarism

[Term]
id: DOID:0110874
name: holoprosencephaly 6
alt_id: MIM:605934
def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11343300 "DO"]
synonym: "HPE6" EXACT []
xref: MESH:C565274
is_a: DOID:4621 ! holoprosencephaly

[Term]
id: DOID:0110875
name: holoprosencephaly 3
alt_id: MIM:142945
def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8896572 "DO"]
synonym: "HLP3" EXACT []
synonym: "HPE3" EXACT []
xref: MESH:C564181
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4621 ! holoprosencephaly

[Term]
id: DOID:0110876
name: holoprosencephaly 7
alt_id: MIM:610828
def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11941477 "DO"]
synonym: "HPE7" EXACT []
xref: MESH:C563660
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4621 ! holoprosencephaly

[Term]
id: DOID:0110877
name: holoprosencephaly 11
def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21802063 "DO"]
synonym: "CDON-RELATED CONDITION" EXACT []
synonym: "HPE11" EXACT []
xref: MIM:614226
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4621 ! holoprosencephaly

[Term]
id: DOID:0110878
name: holoprosencephaly 5
alt_id: MIM:609637
def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9771712 "DO"]
synonym: "HPE5" EXACT []
synonym: "ZIC2-RELATED CONDITION" EXACT []
xref: MESH:C566464
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4621 ! holoprosencephaly

[Term]
id: DOID:0110879
name: holoprosencephaly 8
alt_id: MIM:609408
def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15820313 "DO"]
synonym: "HPE8" EXACT []
xref: MESH:C563723
is_a: DOID:4621 ! holoprosencephaly

[Term]
id: DOID:0110880
name: holoprosencephaly 4
alt_id: MIM:142946
def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10835638 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16323008 "DO"]
synonym: "HPE4" EXACT []
xref: MESH:C564180
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4621 ! holoprosencephaly

[Term]
id: DOID:0110881
name: holoprosencephaly 1
alt_id: MIM:236100
def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7485157 "DO"]
synonym: "cyclopia" EXACT []
synonym: "HPE1" EXACT []
xref: MESH:C562573
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4621 ! holoprosencephaly

[Term]
id: DOID:0110882
name: inflammatory bowel disease 7
alt_id: MIM:605225
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19122664 "DO"]
synonym: "IBD7" EXACT []
xref: MESH:C565353
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110883
name: inflammatory bowel disease 17
alt_id: MIM:612261
def: "An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17068223 "DO"]
synonym: "IBD17" EXACT []
synonym: "IL23R-RELATED CONDITION" BROAD []
synonym: "inflammatory bowel disease 17, protection against" RELATED []
xref: MESH:C567378
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110884
name: inflammatory bowel disease 23
alt_id: MIM:612381
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15937090 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18587394 "DO"]
synonym: "IBD23" EXACT []
xref: MESH:C567326
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110885
name: inflammatory bowel disease 10
alt_id: MIM:611081
def: "An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18852889 "DO"]
synonym: "IBD10" EXACT []
synonym: "inflammatory bowel disease (Crohn disease) 10" EXACT []
synonym: "inflammatory bowel disease 10, susceptibility to" RELATED []
xref: MESH:C567021
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110886
name: inflammatory bowel disease 9
alt_id: MIM:608448
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12354785 "DO"]
synonym: "IBD9" EXACT []
xref: MESH:C563926
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110887
name: inflammatory bowel disease 12
alt_id: MIM:612241
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17804789 "DO"]
synonym: "IBD12" EXACT []
xref: MESH:C567388
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110888
name: inflammatory bowel disease 18
alt_id: MIM:612262
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17447842 "DO"]
synonym: "IBD18" EXACT []
xref: MESH:C567377
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110889
name: inflammatory bowel disease 5
alt_id: MIM:606348
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11586304 "DO"]
synonym: "IBD5" EXACT []
xref: MESH:C565234
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110890
name: inflammatory bowel disease 19
alt_id: MIM:612278
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17554261 "DO"]
synonym: "IBD19" EXACT []
synonym: "inflammatory bowel disease (Crohn disease) 19" EXACT []
xref: MESH:C567372
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110891
name: inflammatory bowel disease 3
alt_id: MIM:604519
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10577918 "DO"]
synonym: "IBD3" EXACT []
xref: MESH:C565764
is_a: DOID:0050589 ! inflammatory bowel disease
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110892
name: inflammatory bowel disease 1
def: "An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11385576 "DO"]
synonym: "IBD1" EXACT []
xref: MONDO:0009960
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0110893
name: inflammatory bowel disease 13
alt_id: MIM:612244
def: "An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14610718 "DO"]
synonym: "IBD13" EXACT []
xref: MESH:C567384
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110894
name: inflammatory bowel disease 11
alt_id: MIM:191390
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8841195 "DO"]
synonym: "IBD11" EXACT []
xref: MESH:C567154
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:0110895
name: inflammatory bowel disease 14
alt_id: MIM:612245
def: "An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17881657 "DO"]
synonym: "IBD14" EXACT []
synonym: "INFLAMMATORY BOWEL DISEASE 14, SUSCEPTIBILITY TO" RELATED []
xref: MESH:C567383
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110896
name: inflammatory bowel disease 16
alt_id: MIM:612259
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18587394 "DO"]
synonym: "IBD16" EXACT []
xref: MESH:C567380
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110897
name: inflammatory bowel disease 15
alt_id: MIM:612255
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18438406 "DO"]
synonym: "IBD15" EXACT []
xref: MESH:C567381
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110898
name: inflammatory bowel disease 20
alt_id: MIM:612288
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10053016 "DO"]
synonym: "IBD20" EXACT []
xref: MESH:C567361
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110899
name: inflammatory bowel disease 28
alt_id: MIM:613148
def: "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19890111 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22476154 "DO"]
synonym: "autosomal recessive inflammatory bowel disease 28" EXACT []
synonym: "early onset autosomal recessive inflammatory bowel disease 28" EXACT []
synonym: "IBD28" EXACT []
xref: MESH:C567728
xref: NCI:C164676
is_a: DOID:0050589 ! inflammatory bowel disease
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110900
name: inflammatory bowel disease 2
alt_id: MIM:601458
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8841195 "DO"]
synonym: "IBD2" EXACT []
xref: MESH:C563310
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110901
name: inflammatory bowel disease 26
alt_id: MIM:612639
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19122664 "DO"]
synonym: "IBD26" EXACT []
xref: MESH:C567217
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110902
name: inflammatory bowel disease 27
alt_id: MIM:612796
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18246054 "DO"]
synonym: "IBD27" EXACT []
xref: MESH:C567559
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110903
name: inflammatory bowel disease 4
alt_id: MIM:606675
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10747815 "DO"]
synonym: "IBD4" EXACT []
xref: MESH:C564680
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110904
name: inflammatory bowel disease 8
alt_id: MIM:606668
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11752413 "DO"]
synonym: "IBD8" EXACT []
xref: MESH:C564682
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110905
name: inflammatory bowel disease 22
alt_id: MIM:612380
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18438405 "DO"]
synonym: "IBD22" EXACT []
xref: MESH:C567327
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110906
name: inflammatory bowel disease 21
alt_id: MIM:612354
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17554261 "DO"]
synonym: "IBD21" EXACT []
xref: MESH:C567338
is_a: DOID:0050589 ! inflammatory bowel disease
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110907
name: inflammatory bowel disease 6
alt_id: MIM:606674
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10777714 "DO"]
synonym: "IBD6" EXACT []
xref: MESH:C564681
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110908
name: inflammatory bowel disease 24
alt_id: MIM:612566
def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18758464 "DO"]
synonym: "IBD24" EXACT []
xref: MESH:C567252
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:0110909
name: inflammatory bowel disease 25
alt_id: MIM:612567
def: "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19890111 "DO"]
synonym: "autosomal recessive inflammatory bowel disease 25" EXACT []
synonym: "early onset autosomal recessive inflammatory bowel disease 25" EXACT []
synonym: "IBD25" EXACT []
xref: MESH:C567251
is_a: DOID:0050589 ! inflammatory bowel disease
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0110910
name: leukocyte adhesion deficiency 1
alt_id: MIM:116920
alt_id: OMIA:000595
def: "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6361068 "DO"]
synonym: "LAD" EXACT []
synonym: "LAD1" EXACT []
synonym: "leukocyte adhesion deficiency type 1" EXACT []
synonym: "leukocyte adhesion deficiency, type I" EXACT []
synonym: "LFA1 immunodeficiency" EXACT []
synonym: "lymphocyte function-associated antigen 1 immunodeficiency" EXACT []
xref: MESH:C535887
xref: ORDO:99842
is_a: DOID:6612 ! leukocyte adhesion deficiency

[Term]
id: DOID:0110912
name: leukocyte adhesion deficiency 3
alt_id: MIM:612840
alt_id: OMIA:001525
def: "A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK539770/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/19234463 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99844 "DO"]
synonym: "IADD" EXACT []
synonym: "integrin activation deficiency disease" EXACT []
synonym: "LAD1V" EXACT []
synonym: "LAD1 variant" EXACT []
synonym: "LAD3" EXACT []
synonym: "leukocyte adhesion deficiency 1 variant" EXACT []
synonym: "leukocyte adhesion deficiency, type III" EXACT []
xref: MESH:C567555
xref: ORDO:99844
is_a: DOID:6612 ! leukocyte adhesion deficiency

[Term]
id: DOID:0110913
name: adult hypophosphatasia
alt_id: MIM:146300
def: "A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1409720 "DO"]
synonym: "mild hypophosphatasia" EXACT []
xref: EFO:0021431
xref: MESH:C562647
xref: ORDO:247676
is_a: DOID:14213 ! hypophosphatasia

[Term]
id: DOID:0110914
name: infantile hypophosphatasia
def: "A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1689104 "DO"]
synonym: "HOPS" EXACT []
synonym: "HPPI" EXACT []
synonym: "phosphoethanolaminuria" EXACT []
xref: EFO:0021797
xref: MESH:C562646
xref: MIM:241500
xref: ORDO:247651
is_a: DOID:14213 ! hypophosphatasia

[Term]
id: DOID:0110915
name: childhood hypophosphatasia
alt_id: MIM:241510
def: "A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1409720 "DO"]
synonym: "childhood-onset hypophosphatasia" NARROW []
synonym: "hypophospatasia, childhood" EXACT []
xref: EFO:0021432
xref: GARD:8735
xref: MESH:C562440
xref: ORDO:247667
is_a: DOID:14213 ! hypophosphatasia

[Term]
id: DOID:0110916
name: hereditary spherocytosis type 1
alt_id: MIM:182900
def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2675425 "DO"]
synonym: "ANK1-RELATED CONDITION" EXACT []
synonym: "hereditary spherocytosis 1" EXACT []
synonym: "HS1" EXACT []
synonym: "SPH" EXACT []
synonym: "SPH1" EXACT []
synonym: "spherocytosis type 1, autosomal recessive" EXACT []
xref: MESH:C567159
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12971 ! hereditary spherocytosis

[Term]
id: DOID:0110917
name: hereditary spherocytosis type 2
def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8102379 "DO"]
synonym: "hereditary spherocytosis 2" RELATED []
synonym: "HS2" EXACT []
synonym: "Spectrin durham" RELATED []
synonym: "Spectrin kissimmee" RELATED []
synonym: "Spectrin s-ta barbara" RELATED []
synonym: "SPH2" EXACT []
synonym: "Spherocytosis, Type 2" EXACT []
synonym: "SPTB-RELATED CONDITION" BROAD []
xref: MIM:616649
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12971 ! hereditary spherocytosis

[Term]
id: DOID:0110918
name: hereditary spherocytosis type 3
alt_id: MIM:270970
def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8941647 "DO"]
synonym: "hereditary spherocytosis 3" EXACT []
synonym: "HS3" EXACT []
synonym: "SPH3" EXACT []
synonym: "spherocytosis type 3" EXACT []
synonym: "spherocytosis type 3, autosomal recessive" EXACT []
xref: MESH:C567489
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12971 ! hereditary spherocytosis

[Term]
id: DOID:0110919
name: hereditary spherocytosis type 4
alt_id: MIM:612653
def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7530501 "DO"]
synonym: "hereditary spherocytosis 4" EXACT []
synonym: "HS4" EXACT []
synonym: "SPH4" EXACT []
synonym: "spherocytosis type 4" EXACT []
xref: MESH:C567208
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12971 ! hereditary spherocytosis

[Term]
id: DOID:0110920
name: hereditary spherocytosis type 5
alt_id: MIM:612690
def: "A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1558976 "DO"]
synonym: "EPB42-RELATED CONDITION" EXACT []
synonym: "hereditary spherocytosis 5" EXACT []
synonym: "HS5" EXACT []
synonym: "SPH5" EXACT []
synonym: "spherocytosis type 5" EXACT []
xref: MESH:C567202
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12971 ! hereditary spherocytosis

[Term]
id: DOID:0110921
name: familial hemophagocytic lymphohistiocytosis 1
def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9915955 "DO"]
synonym: "FHL1" EXACT []
synonym: "HLH1" EXACT []
synonym: "HPLH1" EXACT []
xref: MIM:267700
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0110922
name: familial hemophagocytic lymphohistiocytosis 2
alt_id: MIM:603553
def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10583959 "DO"]
synonym: "familial hemophagocytic lymphohistiocytosis 2, susceptibility to" RELATED []
synonym: "FHL2" EXACT []
synonym: "HLH2" EXACT []
synonym: "HPLH2" EXACT []
xref: GARD:9922
xref: MESH:C537250
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses

[Term]
id: DOID:0110923
name: familial hemophagocytic lymphohistiocytosis 3
def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14622600 "DO"]
synonym: "FHL3" EXACT []
synonym: "HLH3" EXACT []
synonym: "HPLH3" EXACT []
synonym: "UNC13D-RELATED CONDITION" EXACT []
xref: GARD:9928
xref: MESH:C537251
xref: MIM:608898
xref: MONDO:0012146
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses

[Term]
id: DOID:0110924
name: familial hemophagocytic lymphohistiocytosis 4
alt_id: MIM:603552
def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15703195 "DO"]
synonym: "FHL4" EXACT []
synonym: "HLH4" EXACT []
synonym: "HPLH4" EXACT []
xref: GARD:9929
xref: MESH:C537252
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses

[Term]
id: DOID:0110925
name: familial hemophagocytic lymphohistiocytosis 5
alt_id: MIM:613101
def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19804848 "DO"]
synonym: "familial hemophagocytic lymphohistiocytosis 5 with or without microvillus inclusion disease" EXACT []
synonym: "FHL5" EXACT []
synonym: "HLH5" EXACT []
synonym: "HPLH5" EXACT []
synonym: "STXBP2-RELATED CONDITION" EXACT []
xref: MESH:C567752
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses

[Term]
id: DOID:0110926
name: nemaline myopathy 1
def: "A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10619715 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24095155 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7704029 "DO"]
synonym: "CAPM1" NARROW []
synonym: "CAP myopathy 1" NARROW []
synonym: "cap myopathy, TPM3-related" EXACT []
synonym: "CMYO4B" EXACT []
synonym: "CMYP4B" EXACT []
synonym: "congenital myopathy 4B" EXACT []
synonym: "congenital myopathy 4B, autosomal recessive" EXACT []
synonym: "NEM1" EXACT []
synonym: "nemaline myopathy 1, autosomal dominant or recessive" EXACT []
synonym: "nemaline myopathy caused by mutation in the tropomyosin 3 gene" EXACT []
xref: MESH:C538348
xref: MIM:609284
xref: MONDO:0012239
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:0110927
name: nemaline myopathy 3
alt_id: MIM:161800
def: "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10508519 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11333380 "DO"]
synonym: "CMYP2A" NARROW []
synonym: "congenital actin myopathy with cores" NARROW []
synonym: "congenital myopathy 2A" EXACT []
synonym: "congenital myopathy 2A, severe infantile or typical, autosomal dominant" NARROW []
synonym: "congenital myopathy 2A, typical, autosomal dominant" NARROW []
synonym: "NEM3" EXACT []
synonym: "NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS," EXACT []
synonym: "nemaline myopathy 3, autosomal dominant or recessive" EXACT []
synonym: "nemaline myopathy 3, with intranuclear rods" NARROW []
synonym: "nemaline myopathy caused by mutation in the alpha-actin gene" EXACT []
xref: MESH:C538350
xref: NCI:C129870
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:0110928
name: nemaline myopathy 2
alt_id: MIM:256030
alt_id: OMIA:002137
def: "A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10051637 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15221447 "DO"]
synonym: "congenital myopathy 2" EXACT []
synonym: "NEM2" EXACT []
synonym: "nemaline myopathy 2, autosomal recessive" EXACT []
synonym: "nemaline myopathy caused by mutation in the nebulin gene" EXACT []
synonym: "nemaline myopathy, NEB-related" EXACT []
synonym: "nemaline myopathy type 2" EXACT []
xref: MESH:C538349
xref: MONDO:0009725
xref: NCI:C118784
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:0110929
name: nemaline myopathy 9
def: "A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24268659 "DO"]
synonym: "NEM9" EXACT []
xref: MIM:615731
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:0110930
name: nemaline myopathy 8
def: "A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23746549 "DO"]
synonym: "NEM8" EXACT []
synonym: "nemaline myopathy 8, autosomal recessive" EXACT []
xref: MIM:615348
xref: NCI:C129871
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:0110931
name: nemaline myopathy 10
def: "A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25250574 "DO"]
synonym: "congenital myopathy 10" EXACT []
synonym: "NEM10" EXACT []
xref: MIM:616165
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:0110932
name: nemaline myopathy 4
def: "A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11738357 "DO"]
synonym: "CAPM2" NARROW []
synonym: "CAP MYOPATHY 2" NARROW []
synonym: "Cap Myopathy, Tpm2-Related" EXACT []
synonym: "CMYO23" EXACT []
synonym: "congenital myopathy 23" EXACT []
synonym: "NEM4" EXACT []
synonym: "nemaline myopathy 4, autosomal dominant" EXACT []
synonym: "nemaline myopathy caused by mutation in the tropomyosin 2 gene" EXACT []
xref: MESH:C538351
xref: MIM:609285
xref: MONDO:0012240
xref: NCI:C164225
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:0110933
name: nemaline myopathy 11
def: "A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28017374 "DO"]
synonym: "CMYO24" EXACT []
synonym: "CMYP4" EXACT []
synonym: "congenital myopathy 24" EXACT []
synonym: "MYPN-RELATED CONDITION" BROAD []
synonym: "MYPN-related myopathy" EXACT []
synonym: "NEM11" EXACT []
synonym: "nemaline myopathy 11, autosomal recessive" EXACT []
xref: MIM:617336
xref: MONDO:0015023
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:0110934
name: nemaline myopathy 7
alt_id: MIM:610687
def: "A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17160903 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22560515 "DO"]
synonym: "NEM7" EXACT []
synonym: "nemaline myopathy 7, autosomal recessive" EXACT []
xref: MESH:C565198
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:0110935
name: nemaline myopathy 6
alt_id: MIM:609273
def: "A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21109227 "DO"]
synonym: "NEM6" EXACT []
synonym: "nemaline myopathy 6, autosomal dominant" EXACT []
xref: MESH:C538398
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:0110936
name: nemaline myopathy 5A
alt_id: MIM:605355
def: "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10952871 "DO"]
synonym: "Amish nemaline myopathy" EXACT []
synonym: "ANM" EXACT []
synonym: "NEM5" EXACT []
synonym: "nemaline myopathy 5, Amish type" EXACT []
synonym: "nemaline myopathy, Amish type" EXACT []
synonym: "nemaline myopathy, caused by mutation in the troponin t1 gene" EXACT []
xref: GARD:8334
xref: MESH:C538397
xref: ORDO:98902
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:0110937
name: autosomal dominant osteopetrosis 1
alt_id: MIM:607634
def: "An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12579474 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3377922 "DO"]
synonym: "autosomal dominant osteopetrosis type 1" EXACT []
synonym: "autosomal dominant osteopetrosis, type I" EXACT []
synonym: "OPTA1" EXACT []
xref: GARD:4151
xref: MESH:C536056
xref: ORDO:2783
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13533 ! osteopetrosis

[Term]
id: DOID:0110938
name: autosomal dominant osteopetrosis 2
def: "An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11741829 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3588909 "DO"]
synonym: "Albers-Schonberg osteopetrosis" EXACT []
synonym: "autosomal dominant Albers-Schonberg disease" BROAD []
synonym: "autosomal dominant osteopetrosis type 2" EXACT []
synonym: "autosomal dominant osteopetrosis, type II" EXACT []
synonym: "OPTA2" EXACT []
xref: GARD:383
xref: MIM:166600
xref: ORDO:53
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060564 ! spinal disease
is_a: DOID:13533 ! osteopetrosis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:0110939
name: autosomal recessive osteopetrosis 5
def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12627228 "DO"]
synonym: "infantile malignant osteopetrosis 3" EXACT []
synonym: "OPTB5" EXACT []
xref: GARD:4153
xref: MESH:C566883
xref: MIM:259720
xref: MONDO:0009817
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13533 ! osteopetrosis

[Term]
id: DOID:0110940
name: autosomal recessive osteopetrosis 8
def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22499339 "DO"]
synonym: "OPTB8" EXACT []
xref: MIM:615085
xref: NCI:C150556
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13533 ! osteopetrosis

[Term]
id: DOID:0110941
name: autosomal recessive osteopetrosis 3
def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1928091 "DO"]
synonym: "autosomal recessive osteopetrosis 3 with renal tubular acidosis" EXACT []
synonym: "carbonic anhydrase 2 deficiency" EXACT []
synonym: "carbonic anhydrase II deficiency" EXACT []
synonym: "CARBONIC ANHYDRASE II VARIANT" RELATED []
synonym: "Guibaud Vainsel syndrome" EXACT []
synonym: "marble brain disease" EXACT []
synonym: "OPTB3" EXACT []
synonym: "osteopetrosis with renal tubular acidosis" EXACT []
xref: GARD:4154
xref: MESH:C536058
xref: MIM:259730
xref: MONDO:0009818
xref: NCI:C118438
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13533 ! osteopetrosis
is_a: DOID:14219 ! renal tubular acidosis
is_a: DOID:9267 ! urea cycle disorder

[Term]
id: DOID:0110942
name: autosomal recessive osteopetrosis 1
def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10888887 "DO"]
synonym: "Albers-Schonberg Disease, Autosomal Recessive" EXACT []
synonym: "infantile malignant osteopetrosis 1" EXACT []
synonym: "Marble Bones, Autosomal Recessive" EXACT []
synonym: "OPTB1" EXACT []
synonym: "TCIRG1-RELATED CONDITION" EXACT []
xref: GARD:2579
xref: MESH:C564915
xref: MIM:259700
xref: MONDO:0009815
xref: NCI:C167215
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13533 ! osteopetrosis

[Term]
id: DOID:0110943
name: autosomal recessive osteopetrosis 2
def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17632511 "DO"]
synonym: "mild autosomal recessive form of osteopetrosis" EXACT []
synonym: "OPTB2" EXACT []
synonym: "osteoclast-poor osteopetrosis" EXACT []
synonym: "osteopetrosis, mild autosomal recessive form" EXACT []
xref: GARD:4157
xref: MESH:C536059
xref: MIM:259710
xref: MONDO:0009816
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13533 ! osteopetrosis

[Term]
id: DOID:0110944
name: autosomal recessive osteopetrosis 4
alt_id: MIM:611490
def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11207362 "DO"]
synonym: "infantile malignant osteopetrosis 2" EXACT []
synonym: "OPTB4" EXACT []
xref: GARD:5993
xref: MESH:C566933
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13533 ! osteopetrosis

[Term]
id: DOID:0110945
name: autosomal recessive osteopetrosis 6
alt_id: MIM:611497
def: "An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17404618 "DO"]
synonym: "OPTB6" EXACT []
synonym: "Osteopetrosis, Autosomal Recessive, Intermediate Form" EXACT []
xref: GARD:4156
xref: MESH:C566931
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13533 ! osteopetrosis

[Term]
id: DOID:0110946
name: autosomal recessive osteopetrosis 7
def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18606301 "DO"]
synonym: "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT []
synonym: "autosomal recessive osteopetrosis type 7" EXACT []
synonym: "OPTB7" EXACT []
synonym: "osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT []
synonym: "osteopetrosis-hypogammaglobulinemia syndrome" EXACT []
xref: GARD:10106
xref: MESH:C567354
xref: MIM:612301
xref: MONDO:0012859
xref: ORDO:178389
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13533 ! osteopetrosis
is_a: DOID:2583 ! agammaglobulinemia

[Term]
id: DOID:0110947
name: Waardenburg syndrome type 2B
alt_id: MIM:600193
def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7951321 "DO"]
synonym: "Waardenburg syndrome type IIB" EXACT []
synonym: "WS2B" EXACT []
xref: GARD:5522
xref: MESH:C536465
is_a: DOID:9002843 ! Waardenburg Syndrome Type 2

[Term]
id: DOID:0110948
name: Waardenburg syndrome type 1
def: "A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1347148 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO"]
synonym: "Waardenburg's syndrome type 1" EXACT []
synonym: "Waardenburg syndrome type I" EXACT []
synonym: "Waardenburg syndrome with dystopia canthorum" EXACT []
synonym: "WS1" EXACT []
xref: MIM:193500
xref: ORDO:894
is_a: DOID:9258 ! Waardenburg syndrome
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0110949
name: Waardenburg syndrome type 3
def: "A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8447316 "DO"]
synonym: "Klein Waardenburg syndrome" EXACT []
synonym: "Waardenburg syndrome, type III" EXACT []
synonym: "Waardenburg syndrome with upper limb anomalies" EXACT []
synonym: "WS3" EXACT []
xref: GARD:5523
xref: MIM:148820
xref: ORDO:896
is_a: DOID:9258 ! Waardenburg syndrome
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0110950
name: Waardenburg syndrome type 2A
alt_id: MIM:193510
alt_id: OMIA:001401
def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7874167 "DO"]
synonym: "Waardenburg syndrome, type IIA" EXACT []
synonym: "Waardenburg syndrome without dystopia canthorum" EXACT []
synonym: "WS2A" EXACT []
xref: GARD:5521
xref: MESH:C536464
is_a: DOID:0080578 ! digenic disease
is_a: DOID:9002843 ! Waardenburg Syndrome Type 2

[Term]
id: DOID:0110951
name: Waardenburg syndrome type 2C
alt_id: MIM:606662
def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11810298 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO"]
synonym: "Waardenburg syndrome type IIC" EXACT []
synonym: "WS2C" EXACT []
xref: MESH:C564684
is_a: DOID:9002843 ! Waardenburg Syndrome Type 2

[Term]
id: DOID:0110953
name: Waardenburg syndrome type 4A
def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8001158 "DO"]
synonym: "Waardenburg syndrome type IVA" EXACT []
synonym: "WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A" EXACT []
synonym: "WS4A" EXACT []
xref: MIM:277580
is_a: DOID:9005027 ! Waardenburg Syndrome Type 4

[Term]
id: DOID:0110954
name: Waardenburg syndrome type 4B
alt_id: MIM:613265
def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8630502 "DO"]
synonym: "Waardenburg syndrome type IVB" EXACT []
synonym: "Waardenburg syndrome with Hirschsprung disease type 4B" EXACT []
synonym: "WS4B" EXACT []
xref: MESH:C567680
is_a: DOID:9005027 ! Waardenburg Syndrome Type 4

[Term]
id: DOID:0110955
name: Waardenburg syndrome type 4C
alt_id: MIM:613266
def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9462749 "DO"]
synonym: "Waardenburg syndrome type IVC" EXACT []
synonym: "WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C" EXACT []
synonym: "Waardenburg Syndrome With Hirschsprung Disease, Type 4c Waardenburg Syndrome, Type Ivc" EXACT []
synonym: "WS4C" EXACT []
xref: MESH:C567679
is_a: DOID:9005027 ! Waardenburg Syndrome Type 4

[Term]
id: DOID:0110956
name: Waardenburg syndrome type 2E
alt_id: MIM:611584
def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10441344 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO"]
synonym: "hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation" EXACT []
synonym: "Waardenburg Syndrome Type 2E, With Neurologic Involvement" EXACT []
synonym: "Waardenburg syndrome type 2E, with or without neurologic involvement" EXACT []
synonym: "Waardenburg Syndrome Type 2E, Without Neurologic Involvement" EXACT []
synonym: "Waardenburg syndrome type IIE" EXACT []
synonym: "WS2E" EXACT []
synonym: "WS2E with or without neurological involvement" EXACT []
synonym: "WS2E, with or without neurologic involvement" EXACT []
xref: MESH:C536463
is_a: DOID:9002843 ! Waardenburg Syndrome Type 2

[Term]
id: DOID:0110957
name: Gaucher's disease type I
def: "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1897529 "DO"]
synonym: "Gaucher's disease, type 1" EXACT []
synonym: "Gaucher disease, noncerebral juvenile" EXACT []
synonym: "Gaucher disease, non neuronopathic form" EXACT []
synonym: "Gaucher disease type 1" EXACT []
synonym: "Gaucher disease, type I" EXACT []
synonym: "GBA deficiency" EXACT []
synonym: "GD1" EXACT []
synonym: "GD I" EXACT []
synonym: "juvenile Gaucher disease" EXACT []
synonym: "non neuronopathic Gaucher disease" EXACT []
xref: GARD:2441
xref: MIM:230800
xref: MONDO:0009265
xref: ORDO:77259
is_a: DOID:1926 ! Gaucher's disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0110958
name: Gaucher's disease type II
alt_id: MIM:230900
def: "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10649495 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2880291 "DO"]
synonym: "acute cerebral Gaucher disease" EXACT []
synonym: "acute neuronopathic Gaucher disease" EXACT []
synonym: "Gaucher disease, acute neuronopathic type" EXACT []
synonym: "Gaucher disease type 2" EXACT []
synonym: "Gaucher disease, type II" EXACT []
synonym: "GD2" EXACT []
synonym: "GD II" EXACT []
synonym: "infantile cerebral Gaucher disease" EXACT []
xref: MESH:C531689
xref: ORDO:77260
is_a: DOID:1926 ! Gaucher's disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:0110959
name: Gaucher's disease type III
def: "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2378352 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8413956 "DO"]
synonym: "Gaucher disease, chronic neuronopathic type" EXACT []
synonym: "Gaucher disease, juvenile and adult, cerebral" EXACT []
synonym: "Gaucher disease, subacute neuronopathic form" EXACT []
synonym: "Gaucher disease, subacute neuronopathic type" EXACT []
synonym: "Gaucher disease type 3" EXACT []
synonym: "Gaucher disease type III" EXACT []
synonym: "GD3" EXACT []
synonym: "GD III" EXACT []
synonym: "subacute neuronopathic Gaucher disease" EXACT []
xref: GARD:2443
xref: MESH:C565554
xref: MIM:231000
xref: MONDO:0009267
xref: ORDO:77261
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1926 ! Gaucher's disease

[Term]
id: DOID:0110960
name: Gaucher's disease perinatal lethal
alt_id: MIM:608013
def: "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12838552 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1437405 "DO"]
synonym: "Gaucher disease, collodion type" EXACT []
synonym: "Gaucher disease, fetal" EXACT []
synonym: "GAUCHER DISEASE, PERINATAL LETHAL" EXACT []
xref: MESH:C564306
xref: ORDO:85212
is_a: DOID:1926 ! Gaucher's disease

[Term]
id: DOID:0110961
name: atypical Gaucher's disease due to saposin C deficiency
alt_id: MIM:610539
def: "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17919309 "DO"]
synonym: "atypical Gaucher disease due to saposin C deficiency" EXACT []
synonym: "GDSAPC" EXACT []
xref: MESH:C566435
xref: ORDO:309252
is_a: DOID:1926 ! Gaucher's disease

[Term]
id: DOID:0110962
name: brachydactyly-preaxial hallux varus syndrome
alt_id: MIM:112450
alt_id: RDO:0002861
def: "A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5082920 "DO"]
synonym: "Christian brachydactyly" EXACT []
synonym: "dominant preaxial brachydactyly with hallux varus and thumb abduction" EXACT []
synonym: "preaxial brachydactyly with hallux varus and thumb abduction" EXACT []
xref: MESH:C537087
xref: ORDO:1278
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:9002707 ! Hallux Varus

[Term]
id: DOID:0110963
name: Ballard syndrome
alt_id: MIM:112440
alt_id: RDO:0002868
def: "A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4009643 "DO"]
synonym: "Brachydactyly Ballard type" EXACT []
synonym: "Brachydactyly Types B and E Combined" EXACT []
synonym: "Pitt Williams brachydactyly" EXACT []
xref: MESH:C537094
xref: ORDO:93395
is_a: DOID:0050581 ! brachydactyly

[Term]
id: DOID:0110964
name: brachydactyly type A1
alt_id: MIM:112500
alt_id: RDO:0002862
def: "A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12525541 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14043746 "DO"]
synonym: "BDA1" EXACT []
synonym: "Farabee-Type Brachydactyly" EXACT []
synonym: "IHH-RELATED CONDITION" BROAD []
xref: GARD:978
xref: MESH:C537088
xref: ORDO:93388
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110965
name: brachydactyly type A2
alt_id: MIM:112600
def: "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14523231 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16127465 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21357617 "DO"]
synonym: "BDA2" EXACT []
synonym: "brachymesophalangy 2" EXACT []
synonym: "brachymesophalangy II" EXACT []
synonym: "Mohr-Wriedt type brachydactyly" EXACT []
xref: GARD:979
xref: MESH:C537089
xref: ORDO:93396
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110966
name: brachydactyly type A3
alt_id: MIM:112700
alt_id: RDO:0002864
def: "A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7416253 "DO"]
synonym: "BDA3" EXACT []
synonym: "brachydactyly-clinodactyly" EXACT []
synonym: "brachymesophalangy 5" EXACT []
synonym: "brachymesophalangy V" EXACT []
xref: GARD:963
xref: MESH:C537090
is_a: DOID:0050581 ! brachydactyly

[Term]
id: DOID:0110967
name: brachydactyly type A4
alt_id: MIM:112800
alt_id: RDO:0002871
def: "A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4325377 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5663738 "DO"]
synonym: "BDA4" EXACT []
synonym: "brachymesophalangy 2 and 5" EXACT []
synonym: "brachymesophalangy II and V" EXACT []
synonym: "temtamy type brachydactyly" EXACT []
xref: GARD:990
xref: MESH:C537097
xref: ORDO:93394
is_a: DOID:0050581 ! brachydactyly

[Term]
id: DOID:0110968
name: brachydactyly type A6
alt_id: MIM:112910
alt_id: RDO:0002866
def: "A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4073129 "DO"]
synonym: "BDA6" EXACT []
synonym: "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" EXACT []
synonym: "Osebold-Remondini syndrome" EXACT []
xref: GARD:983
xref: MESH:C537092
xref: ORDO:93382
is_a: DOID:0050581 ! brachydactyly

[Term]
id: DOID:0110969
name: brachydactyly type B1
alt_id: MIM:113000
def: "A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10700182 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9973295 "DO"]
synonym: "BDB" EXACT []
synonym: "BDB1" EXACT []
synonym: "brachydactyly, type B" EXACT []
synonym: "ROR2-RELATED CONDITION" BROAD []
xref: MESH:C566196
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0110970
name: brachydactyly type C
alt_id: MIM:113100
def: "A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9288091 "DO"]
synonym: "BDC" EXACT []
synonym: "brachydactyly, Haws type" EXACT []
xref: GARD:986
xref: MESH:C537093
xref: ORDO:93384
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110971
name: brachydactyly type D
alt_id: MIM:113200
def: "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12649808 "DO"]
synonym: "BDD" EXACT []
synonym: "stub thumb" EXACT []
xref: MESH:C562420
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0110972
name: brachydactyly type E1
def: "A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12649808 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8933344 "DO"]
synonym: "BDE1" EXACT []
synonym: "BRACHYDACTYLY SYNDROME TYPE E" EXACT []
xref: MIM:113300
is_a: DOID:630 ! genetic disease
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9006432 ! Brachydactyly, Type E

[Term]
id: DOID:0110973
name: Mononen-Karnes-Senac syndrome
alt_id: MIM:301940
def: "A brachydactyly characterized by short, abducted thumbs and great toes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1632443 "DO"]
synonym: "Mononen type brachydactyly" EXACT []
synonym: "short and abducted thumbs and great toes" EXACT []
xref: MESH:C535914
xref: ORDO:2565
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0110974
name: brachydactyly type A1B
alt_id: MIM:607004
def: "A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11897820 "DO"]
synonym: "BDA1B" EXACT []
xref: MESH:C564635
xref: RDO:0013528
is_a: DOID:0110964 ! brachydactyly type A1
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0110975
name: brachydactyly type B2
alt_id: RDO:0009521
def: "A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17668388 "DO"]
synonym: "BDB2" EXACT []
xref: ICD10CM:Q73.8
xref: MIM:611377
xref: ORDO:140908
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0110976
name: brachydactyly type E2
def: "A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20015959 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20170896 "DO"]
synonym: "BDE2" EXACT []
xref: MIM:613382
is_a: DOID:630 ! genetic disease
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9006432 ! Brachydactyly, Type E

[Term]
id: DOID:0110977
name: brachydactyly type A1C
alt_id: RDO:9000200
def: "A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20683927 "DO"]
synonym: "BDA1C" EXACT []
synonym: "BRACHYDACTYLY, TYPE A1, C" EXACT []
xref: MIM:615072
is_a: DOID:0110964 ! brachydactyly type A1
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0110978
name: brachydactyly type A1D
alt_id: RDO:9000376
def: "A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25758993 "DO"]
synonym: "BDA1D" EXACT []
synonym: "brachydactyly type A1, D" EXACT []
xref: MIM:616849
is_a: DOID:0110964 ! brachydactyly type A1
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:0110979
name: Sugarman brachydactyly
def: "A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7083610 "DO"]
synonym: "brachydactyly with major proximal phalangeal shortening" EXACT []
xref: GARD:5058
xref: MIM:272150
xref: ORDO:498602
is_a: DOID:0050581 ! brachydactyly
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0110980
name: Joubert syndrome 1
alt_id: MIM:213300
def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19668216 "DO"]
synonym: "agenesis of cerebellar vermis" EXACT []
synonym: "cerebellar vermis agenesis" EXACT []
synonym: "Cerebello-Oculo-Renal Syndrome" EXACT []
synonym: "Cerebellooculorenal syndrome 1" EXACT []
synonym: "Cerebelloparenchymal disorder 4" EXACT []
synonym: "cerebelloparenchymal disorder IV" EXACT []
synonym: "CORS1" EXACT []
synonym: "CPD4" EXACT []
synonym: "familial aplasia of the vermis" EXACT []
synonym: "INPP5E-RELATED CONDITION" BROAD []
synonym: "JBTS1" EXACT []
synonym: "Joubert-Boltshauser syndrome" EXACT []
xref: MESH:C536293
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:0110981
name: Joubert syndrome 10
alt_id: MIM:300804
alt_id: RDO:0015629
def: "A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19800048 "DO"]
synonym: "JBTS10" EXACT []
xref: MESH:C567582
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:9005603 ! Muscle Hypotonia

[Term]
id: DOID:0110982
name: Joubert Syndrome 13
def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21725307 "DO"]
synonym: "JBTS13" EXACT []
xref: MIM:614173
xref: RDO:9000484
is_a: DOID:0050777 ! Joubert syndrome

[Term]
id: DOID:0110983
name: Joubert syndrome 14
def: "A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17603801 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22152675 "DO"]
synonym: "JBTS14" EXACT []
synonym: "TMEM237-RELATED CONDITION" EXACT []
xref: MIM:614424
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:1059 ! intellectual disability

[Term]
id: DOID:0110984
name: Joubert syndrome 15
def: "A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22246503 "DO"]
synonym: "JBTS15" EXACT []
synonym: "JOUBERT SYNDROME 12/15, DIGENIC" NARROW []
synonym: "JOUBERT SYNDROME 9/15, DIGENIC" NARROW []
xref: MIM:614464
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:0080578 ! digenic disease
is_a: DOID:1059 ! intellectual disability

[Term]
id: DOID:0110985
name: Joubert Syndrome 16
def: "A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22282472 "DO"]
synonym: "JBTS16" EXACT []
xref: MIM:614465
is_a: DOID:0050777 ! Joubert syndrome

[Term]
id: DOID:0110986
name: Joubert Syndrome 17
def: "A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26092869 "DO"]
synonym: "CPLANE1-RELATED CONDITION" BROAD []
synonym: "JBTS17" EXACT []
xref: MIM:614615
xref: NCI:C175702
is_a: DOID:0050777 ! Joubert syndrome

[Term]
id: DOID:0110987
name: Joubert Syndrome 18
def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22883145 "DO"]
synonym: "JBTS18" EXACT []
xref: MIM:614815
is_a: DOID:0050777 ! Joubert syndrome

[Term]
id: DOID:0110988
name: Joubert Syndrome 2
alt_id: MIM:608091
def: "A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20036350 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9373798 "DO"]
synonym: "Cerebellooculorenal syndrome 2" EXACT []
synonym: "CORS2" EXACT []
synonym: "JBTS2" EXACT []
synonym: "JOUBERT SYNDROME TYPE 2" EXACT []
xref: GARD:10167
xref: MESH:C536294
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:0110989
name: Joubert syndrome 20
def: "A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23012439 "DO"]
synonym: "JBTS20" EXACT []
xref: MIM:614970
xref: RDO:9000490
is_a: DOID:0050777 ! Joubert syndrome

[Term]
id: DOID:0110990
name: Joubert syndrome 21
def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24360808 "DO"]
synonym: "JBTS21" EXACT []
xref: MIM:615636
xref: RDO:9001022
is_a: DOID:0050777 ! Joubert syndrome

[Term]
id: DOID:0110991
name: Joubert syndrome 22
def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24166846 "DO"]
synonym: "JBTS22" EXACT []
xref: MIM:615665
is_a: DOID:0050777 ! Joubert syndrome

[Term]
id: DOID:0110992
name: Joubert syndrome 23
def: "A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26096313 "DO"]
synonym: "JBTS23" EXACT []
synonym: "KIAA0586-RELATED CONDITION" BROAD []
xref: MIM:616490
is_a: DOID:0050777 ! Joubert syndrome
created_by: rgd
creation_date: 2016-11-09T00:00:00Z

[Term]
id: DOID:0110993
name: Joubert syndrome 24
alt_id: RDO:9000414
def: "A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21565611 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25118024 "DO"]
synonym: "JBTS24" EXACT []
synonym: "TCTN2-RELATED DISORDER" BROAD []
synonym: "TCTN2-RELATED DISORDERS" BROAD []
xref: MIM:616654
is_a: DOID:0050777 ! Joubert syndrome
created_by: rgd
creation_date: 2015-12-08T00:00:00Z

[Term]
id: DOID:0110994
name: Joubert syndrome 25
def: "A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26477546 "DO"]
synonym: "JBTS25" EXACT []
xref: MIM:616781
is_a: DOID:0050777 ! Joubert syndrome
created_by: rgd
creation_date: 2016-03-10T00:00:00Z

[Term]
id: DOID:0110995
name: Joubert Syndrome 26
def: "A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26714646 "DO"]
synonym: "JBTS26" EXACT []
synonym: "KATNIP-RELATED CONDITION" EXACT []
xref: MIM:616784
is_a: DOID:0050777 ! Joubert syndrome
created_by: rgd
creation_date: 2016-03-11T00:00:00Z

[Term]
id: DOID:0110996
name: Joubert Syndrome 27
def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24886560 "DO"]
synonym: "JBTS27" EXACT []
xref: MIM:617120
xref: RDO:9001266
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:1059 ! intellectual disability
created_by: rgd
creation_date: 2016-10-11T00:00:00Z

[Term]
id: DOID:0110997
name: Joubert Syndrome 28
def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24886560 "DO"]
synonym: "JBTS28" EXACT []
xref: MIM:617121
xref: RDO:9001267
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:1059 ! intellectual disability
created_by: rgd
creation_date: 2016-10-11T00:00:00Z

[Term]
id: DOID:0110998
name: Joubert syndrome 3
alt_id: MIM:608629
def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15322546 "DO"]
synonym: "JBTS3" EXACT []
xref: MESH:C536295
xref: NCI:C148259
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:9005603 ! Muscle Hypotonia

[Term]
id: DOID:0110999
name: Joubert syndrome 4
alt_id: MIM:609583
def: "A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15138899 "DO"]
synonym: "JBTS4" EXACT []
xref: GARD:10169
xref: MESH:C536296
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:0111000
name: Joubert syndrome 5
alt_id: MIM:610188
def: "A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16682973 "DO"]
synonym: "JBTS5" EXACT []
xref: MESH:C537688
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:557 ! kidney disease
is_a: DOID:9005603 ! Muscle Hypotonia

[Term]
id: DOID:0111001
name: Joubert syndrome 6
alt_id: MIM:610688
def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17160906 "DO"]
synonym: "JBTS6" EXACT []
xref: MESH:C537689
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:0111002
name: Joubert syndrome 7
alt_id: MIM:611560
def: "A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17558409 "DO"]
synonym: "JBTS7" EXACT []
xref: MESH:C566916
xref: NCI:C159653
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:0111003
name: Joubert syndrome 8
alt_id: MIM:612291
def: "A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18674751 "DO"]
synonym: "JBTS8" EXACT []
xref: MESH:C567358
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0111004
name: Joubert syndrome 9
alt_id: MIM:612285
def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18387594 "DO"]
synonym: "CC2D2A-RELATED DISORDER" BROAD []
synonym: "JBTS9" EXACT []
synonym: "JOUBERT SYNDROME 9/15, DIGENIC" NARROW []
xref: MESH:C567364
xref: NCI:C181002
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:0080578 ! digenic disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:557 ! kidney disease
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:0111005
name: cone-rod dystrophy 2
alt_id: OMIA:001675
def: "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9390563 "DO"]
synonym: "CORD2" EXACT []
synonym: "CRD2" EXACT []
synonym: "RCRD2" EXACT []
synonym: "retinal cone-rod dystrophy 2" EXACT []
xref: GARD:6145
xref: MIM:120970
xref: NCI:C162399
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111006
name: X-linked cone-rod dystrophy 2
def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9199568 "DO"]
synonym: "COD2" EXACT []
synonym: "CONE DYSTROPHY 2, X-LINKED" EXACT []
synonym: "CORDX2" EXACT []
synonym: "X-LINKED CONE-ROD DYSTROPHY" BROAD []
xref: MESH:C564717
xref: MIM:300085
xref: MONDO:0010245
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111007
name: X-linked cone-rod dystrophy 3
alt_id: MIM:300476
alt_id: RDO:0013449
def: "A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16505158 "DO"]
synonym: "CORDX3" EXACT []
synonym: "X-LINKED CONE-ROD DYSTROPHY" BROAD []
xref: MESH:C564507
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111008
name: X-linked cone-rod dystrophy 1
alt_id: MIM:304020
def: "A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11857109 "DO"]
synonym: "COD1" EXACT []
synonym: "CORDX1" EXACT []
synonym: "X-linked cone dystrophy 1" EXACT []
synonym: "X-LINKED CONE-ROD DYSTROPHY" BROAD []
synonym: "X-linked cone-rod dystrophy, type 1" EXACT []
xref: MESH:C564438
xref: MESH:C564439
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111009
name: cone-rod dystrophy 1
alt_id: MIM:600624
alt_id: OMIA:001674
def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1867279 "DO"]
synonym: "CORD1" EXACT []
synonym: "CRD1" EXACT []
xref: GARD:10651
xref: MESH:C563469
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111010
name: cone-rod dystrophy 5
alt_id: MIM:600977
def: "A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17377520 "DO"]
synonym: "CORD5" EXACT []
xref: MESH:C563415
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111011
name: cone-rod dystrophy 6
alt_id: MIM:601777
def: "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9618177 "DO"]
synonym: "Cone degeneration, autosomal dominant progressive" EXACT []
synonym: "CORD6" EXACT []
synonym: "RCD2" EXACT []
synonym: "retinal cone dystrophy 2" EXACT []
xref: GARD:10656
xref: MESH:C538363
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111012
name: cone-rod dystrophy 7
alt_id: MIM:603649
def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35947379/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/12659814 "DO"]
synonym: "CORD7" EXACT []
xref: MESH:C566350
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111013
name: cone-rod dystrophy 3
alt_id: MIM:604116
alt_id: OMIA:001520
def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9466990 "DO"]
synonym: "CORD3" EXACT []
xref: GARD:10653
xref: MESH:C565827
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111014
name: cone-rod dystrophy 8
alt_id: MIM:605549
def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11053266 "DO"]
synonym: "CORD8" EXACT []
xref: MESH:C565322
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111015
name: Newfoundland cone-rod dystrophy
alt_id: MIM:607476
def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11868161 "DO"]
synonym: "NFRCD" EXACT []
xref: MESH:C564391
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111016
name: cone-rod dystrophy 13
alt_id: MIM:608194
alt_id: OMIA:001432
def: "A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12920076 "DO"]
synonym: "cone-rod dystrophy 4" EXACT []
synonym: "CORD13" EXACT []
xref: MESH:C567698
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111017
name: cone-rod dystrophy 10
alt_id: MIM:610283
def: "A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16199541 "DO"]
synonym: "CORD10" EXACT []
xref: MESH:C564597
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111018
name: cone-rod dystrophy 11
alt_id: MIM:610381
def: "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25789692 "DO"]
synonym: "CORD11" EXACT []
xref: MESH:C563671
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111019
name: cone-rod dystrophy 12
alt_id: MIM:612657
def: "A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35947379/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/18654668 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24474277 "DO"]
synonym: "CORD12" EXACT []
xref: MESH:C567206
is_a: DOID:0050572 ! cone-rod dystrophy

[Term]
id: DOID:0111020
name: cone-rod dystrophy 9
alt_id: RDO:0009706
def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19409519 "DO"]
synonym: "CORD9" EXACT []
xref: MIM:612775
is_a: DOID:0050572 ! cone-rod dystrophy

[Term]
id: DOID:0111021
name: cone-rod dystrophy 15
def: "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20805371 "DO"]
synonym: "CDHR1-RELATED CONDITION" BROAD []
synonym: "CORD15" EXACT []
synonym: "MACULAR DYSTROPHY, RETINAL, 5" RELATED []
synonym: "MCDR5" RELATED []
synonym: "RETINITIS PIGMENTOSA 65" RELATED []
synonym: "RP65" RELATED []
xref: MIM:613660
is_a: DOID:0050572 ! cone-rod dystrophy

[Term]
id: DOID:0111022
name: cone-rod dystrophy 16
def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26865426 "DO"]
synonym: "C8ORF37-RELATED DISORDER" BROAD []
synonym: "CFAP418-RELATED CONDITION" BROAD []
synonym: "CORD16" EXACT []
synonym: "RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT" RELATED []
synonym: "retinitis pigmentosa 64" RELATED []
synonym: "RP64" RELATED []
xref: MIM:614500
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111023
name: cone-rod dystrophy 17
def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22929024 "DO"]
synonym: "CORD17" EXACT []
xref: MIM:615163
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:0111024
name: cone-rod dystrophy 18
def: "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23746546 "DO"]
synonym: "CORD18" EXACT []
xref: MIM:615374
is_a: DOID:0050572 ! cone-rod dystrophy

[Term]
id: DOID:0111025
name: cone-rod dystrophy 19
def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24791901 "DO"]
synonym: "CORD19" EXACT []
synonym: "TTLL5-RELATED CONDITION" EXACT []
xref: MIM:615860
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111026
name: cone-rod dystrophy 20
def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24945461 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25018096 "DO"]
synonym: "CORD 20" EXACT []
synonym: "CORD20" EXACT []
xref: MIM:615973
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:0111027
name: hemochromatosis type 2A
def: "A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14647275 "DO"]
synonym: "hemochromatosis type 2a, modifier of" RELATED []
synonym: "HFE2A" EXACT []
synonym: "HJV-RELATED CONDITION" EXACT []
xref: MIM:602390
is_a: DOID:0111034 ! hemochromatosis type 2
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0111028
name: hemochromatosis type 4
alt_id: MIM:606069
def: "A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11431687 "DO"]
synonym: "autosomal dominant hereditary hemochromatosis" EXACT []
synonym: "ferroportin disease" EXACT []
synonym: "hemochromatosis, autosomal dominant" EXACT []
synonym: "hemochromatosis due to defect in ferroportin" EXACT []
synonym: "HFE4" EXACT []
xref: GARD:10094
xref: MESH:C537249
xref: ORDO:139491
is_a: DOID:2352 ! hemochromatosis

[Term]
id: DOID:0111029
name: hemochromatosis type 1
def: "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8696333 "DO"]
synonym: "hemochromatosis type 1, modifier of" RELATED []
synonym: "hereditary hemochromatosis type 1" EXACT []
synonym: "HFE1" EXACT []
synonym: "symptomatic form of classic hemochromatosis" EXACT []
synonym: "symptomatic form of hemochromatosis type 1" EXACT []
synonym: "symptomatic form of HFE-related hereditary hemochromatosis" EXACT []
xref: EFO:0006513
xref: GARD:10417
xref: MIM:235200
xref: ORDO:465508
is_a: DOID:2352 ! hemochromatosis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:0111030
name: hemochromatosis type 3
alt_id: MIM:604250
def: "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10802645 "DO"]
synonym: "Hemochromatosis due to defect in transferrin receptor 2" EXACT []
synonym: "hereditary hemochromatosis type 3" EXACT []
synonym: "HFE3" EXACT []
synonym: "TFR2-related hemochromatosis" EXACT []
xref: GARD:10093
xref: MESH:C537248
xref: ORDO:225123
is_a: DOID:2352 ! hemochromatosis

[Term]
id: DOID:0111031
name: hemochromatosis type 5
alt_id: MIM:615517
def: "A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11389486 "DO"]
synonym: "FTH1-associated iron overload" EXACT []
synonym: "FTH1-related iron overload" EXACT []
synonym: "HEREDITARY HEMOCHROMATOSIS TYPE 5" EXACT []
synonym: "HFE5" EXACT []
synonym: "iron overload, autosomal dominant" EXACT []
xref: MESH:C565020
xref: ORDO:247790
is_a: DOID:2352 ! hemochromatosis

[Term]
id: DOID:0111032
name: hemochromatosis type 2B
alt_id: MIM:613313
def: "A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12469120 "DO"]
synonym: "HAMP-RELATED CONDITION" EXACT []
synonym: "HFE2B" EXACT []
xref: MESH:C566557
is_a: DOID:0111034 ! hemochromatosis type 2

[Term]
id: DOID:0111033
name: African iron overload
alt_id: MIM:601195
alt_id: RDO:0003819
def: "A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10607817 "DO"]
synonym: "Bantu siderosis" EXACT []
synonym: "Hereditary iron overload and African Americans" EXACT []
synonym: "Iron overload in Africa" EXACT []
xref: ICD10CM:E83.1
xref: MESH:C537904
xref: ORDO:139507
is_a: DOID:2352 ! hemochromatosis
is_a: DOID:8955 ! sideroblastic anemia

[Term]
id: DOID:0111034
name: hemochromatosis type 2
def: "A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1170/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10205270 "DO"]
synonym: "HFE2" EXACT []
synonym: "JH" EXACT []
synonym: "JHH" EXACT []
synonym: "juvenile hemochromatosis" EXACT []
xref: GARD:10092
xref: MESH:C537247
xref: ORDO:79230
is_a: DOID:2352 ! hemochromatosis

[Term]
id: DOID:0111035
name: CADASIL 1
def: "A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10476042 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8878478 "DO"]
synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1" EXACT []
synonym: "CADASIL1" EXACT []
synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1" EXACT []
synonym: "hereditary dementia, multi-infarct type" EXACT []
synonym: "RECURRENT SUBCORTICAL INFARCTS" NARROW []
xref: MIM:125310
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13945 ! CADASIL
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0111036
name: CADASIL2
def: "A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26063658 "DO"]
synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2" EXACT []
synonym: "CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2" EXACT []
synonym: "CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 2" EXACT []
synonym: "HTRA1-RELATED AUTOSOMAL DOMINANT CEREBRAL SMALL VESSEL DISEASE" EXACT []
xref: ICD10CM:F01.1
xref: MIM:616779
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13945 ! CADASIL
created_by: rgd
creation_date: 2016-02-09T00:00:00Z

[Term]
id: DOID:0111037
name: glycine N-methyltransferase deficiency
alt_id: RDO:9004224
def: "A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1159664 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11810299 "DO"]
synonym: "GNMT deficiency" EXACT []
synonym: "hypermethioninemia due to glycine N-methyltransferase deficiency" EXACT []
synonym: "hypermethioninemia due to GNMT deficiency" EXACT []
xref: GARD:10764
xref: MIM:606664
xref: ORDO:289891
is_a: DOID:0050544 ! hypermethioninemia
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0111038
name: hypermethioninemia due to adenosine kinase deficiency
alt_id: MESH:C567015
def: "A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17120046 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21963049 "DO"]
synonym: "ADK hypermethioninemia" EXACT []
synonym: "ADK-RELATED CONDITION" EXACT []
synonym: "autosomal recessive mental retardation 8" EXACT []
synonym: "hypermethioninemia encephalopathy due to adenosine kinase deficiency" EXACT []
synonym: "hypermethioninemia encephalopathy due to ADK deficiency" EXACT []
synonym: "MRT8" EXACT []
xref: ICD10CM:E72.1
xref: MIM:614300
xref: ORDO:289290
is_a: DOID:0050544 ! hypermethioninemia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:0111039
name: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
def: "A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15024124 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2380820 "DO"]
synonym: "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency" EXACT []
synonym: "hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency" EXACT []
synonym: "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency" EXACT []
xref: GARD:13177
xref: MIM:613752
xref: ORDO:88618
is_a: DOID:0050544 ! hypermethioninemia
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:0111040
name: glycogen storage disease IXD
alt_id: MIM:300559
def: "A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22238410 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7874115 "DO"]
synonym: "glycogenosis due to muscle phosphorylase kinase deficiency" EXACT []
synonym: "glycogenosis type 9D" EXACT []
synonym: "glycogenosis type 9E" EXACT []
synonym: "glycogenosis type IXd" EXACT []
synonym: "glycogenosis type IXe" EXACT []
synonym: "glycogen storage disease due to muscle phosphorylase kinase deficiency" EXACT []
synonym: "glycogen storage disease type 9D" EXACT []
synonym: "glycogen storage disease type 9E" EXACT []
synonym: "glycogen storage disease type IXd" EXACT []
synonym: "glycogen storage disease type IXe" EXACT []
synonym: "GSD9D" EXACT []
synonym: "GSD due to muscle phosphorylase kinase deficiency" EXACT []
synonym: "GSD IXD" EXACT []
synonym: "GSD type 9D" EXACT []
synonym: "GSD type 9E" EXACT []
synonym: "GSD type IXd" EXACT []
synonym: "GSD type IXe" EXACT []
synonym: "Muscle Phosphorylase Kinase Deficiency" EXACT []
synonym: "PHKA1-RELATED CONDITION" EXACT []
synonym: "X-linked muscke glycogenosis" EXACT []
synonym: "X-linked muscle glycogenosis" EXACT []
xref: MESH:C564485
xref: ORDO:715
is_a: DOID:0050594 ! glycogen storage disease IX
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0111041
name: glycogen storage disease IXB
def: "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25266922 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9215682 "DO"]
synonym: "glycogenosis due to liver and muscle phosphorylase kinase deficiency" EXACT []
synonym: "glycogenosis of liver and muscle, autosomal recessive" EXACT []
synonym: "glycogenosis type 9B" EXACT []
synonym: "glycogenosis type IXb" EXACT []
synonym: "glycogen storage disease type 9B" EXACT []
synonym: "glycogen storage disease type IXb" EXACT []
synonym: "GSD9B" EXACT []
synonym: "GSD due to liver and muscle phosphorylase kinase deficiency" EXACT []
synonym: "GSD IXB" EXACT []
synonym: "GSD type 9B" EXACT []
synonym: "GSD type IXb" EXACT []
synonym: "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" EXACT []
xref: MESH:C563008
xref: MIM:261750
xref: MONDO:0009868
xref: ORDO:79240
is_a: DOID:0050594 ! glycogen storage disease IX

[Term]
id: DOID:0111042
name: glycogen storage disease IXA
alt_id: MESH:C564421
alt_id: MESH:C567579
def: "A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2303074 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7711737 "DO"]
synonym: "glycogenosis type 9A" EXACT []
synonym: "glycogenosis type IXa" EXACT []
synonym: "glycogen storage disease IXa1" NARROW []
synonym: "glycogen storage disease IXa2" NARROW []
synonym: "glycogen storage disease type 9A" EXACT []
synonym: "glycogen storage disease type IXa" EXACT []
synonym: "glycogen storage disease type IXA1" NARROW []
synonym: "glycogen storage disease type IXA2" NARROW []
synonym: "glycogen storage disease VIII (formerly)" RELATED []
synonym: "GSD8 (formerly)" RELATED []
synonym: "GSD9A" EXACT []
synonym: "GSD9A1" NARROW []
synonym: "GSD9A2" NARROW []
synonym: "GSD IXA2" NARROW []
synonym: "GSD type 9A" EXACT []
synonym: "GSD type IXa" EXACT []
synonym: "GSD VIII (formerly)" RELATED []
synonym: "liver glycogenosis, X-linked, type I" EXACT []
synonym: "liver glycogenosis, X-linked, type II" EXACT []
synonym: "XLG1" EXACT []
synonym: "XLG2" EXACT []
xref: MIM:306000
is_a: DOID:0050594 ! glycogen storage disease IX
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0111043
name: glycogen storage disease IXC
def: "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6962066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9384616 "DO"]
synonym: "glycogenosis type 9C" EXACT []
synonym: "glycogenosis type IXc" EXACT []
synonym: "glycogen storage disease type 9C" EXACT []
synonym: "glycogen storage disease type IXc" EXACT []
synonym: "GSD9C" EXACT []
synonym: "GSD IXC" EXACT []
synonym: "GSD type 9C" EXACT []
synonym: "GSD type IXc" EXACT []
xref: MESH:C567809
xref: MIM:613027
xref: MONDO:0013091
is_a: DOID:0050594 ! glycogen storage disease IX
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0111044
name: gray platelet syndrome
alt_id: MIM:139090
def: "A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17768118 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21765411 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21765412 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21765413 "DO"]
synonym: "BDPLT4" EXACT []
synonym: "GPS" EXACT []
synonym: "gray platelet syndromes" EXACT []
synonym: "Grey Platelet Syndrome" EXACT []
synonym: "Grey Platelet Syndromes" EXACT []
synonym: "NBEAL2-RELATED CONDITION" EXACT []
synonym: "platelet alpha-granule deficiencies" EXACT []
synonym: "platelet alpha-granule deficiency" EXACT []
synonym: "platelet-type bleeding disorder 4" EXACT []
xref: GARD:2562
xref: MESH:D055652
xref: ORDO:721
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:225 ! syndrome
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:0111045
name: platelet-type bleeding disorder 9
alt_id: MIM:614200
def: "A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2933589 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2943331 "DO"]
synonym: "BDPLT9" EXACT []
synonym: "COLLAGEN PLATELET RECEPTOR DEFICIENCY" EXACT []
synonym: "Glycoprotein IA Deficiency" EXACT []
synonym: "GP IA Deficiency" EXACT []
xref: ICD10CM:D69.8
xref: MESH:C566000
xref: ORDO:98886
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:0111046
name: platelet-type bleeding disorder 10
alt_id: MIM:608404
def: "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11499670 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7506948 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7686693 "DO"]
synonym: "BDPLT10" EXACT []
synonym: "CD36 Deficiency" EXACT []
synonym: "platelet glycoprotein IV deficiency" EXACT []
xref: MESH:C564245
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:0111047
name: platelet-type bleeding disorder 14
alt_id: MIM:614158
def: "A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6268139 "DO"]
synonym: "BDPLT14" EXACT []
synonym: "thromboxane synthase deficiency" EXACT []
xref: MESH:C562866
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:0111048
name: platelet-type bleeding disorder 19
def: "A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25061177 "DO"]
synonym: "BDPLT19" EXACT []
synonym: "severe autosomal recessive macrothrombocytopenia" EXACT []
xref: ICD10CM:D69.4
xref: MIM:616176
xref: ORDO:438207
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:0111049
name: platelet-type bleeding disorder 17
alt_id: MIM:187900
def: "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24325358 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5681484 "DO"]
synonym: "BDPLT17" EXACT []
synonym: "hereditary thrombasthenia-thrombocytopenia" EXACT []
xref: MESH:C566060
xref: NCI:C142084
xref: NCI:C84741
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:2219 ! Glanzmann's thrombasthenia
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:0111050
name: Quebec platelet disorder
alt_id: MIM:601709
def: "A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18988861 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20007542 "DO"]
synonym: "BDPLT5" EXACT []
synonym: "Bleeding Disorder, Platelet-Type, 5" EXACT []
synonym: "Factor V Quebec" EXACT []
synonym: "QPD" EXACT []
xref: GARD:8345
xref: MESH:C536260
xref: ORDO:220436
is_a: DOID:2216 ! factor V deficiency
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:0111051
name: platelet-type bleeding disorder 18
alt_id: RDO:9001378
def: "A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24958846 "DO"]
synonym: "BDPLT18" EXACT []
synonym: "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency" EXACT []
synonym: "bleeding disorder due to CalDAG-GEFI deficiency" EXACT []
synonym: "RASGRP2-RELATED CONDITION" EXACT []
xref: MIM:615888
xref: ORDO:420566
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:0111052
name: Scott syndrome
alt_id: MIM:262890
alt_id: OMIA:001353
def: "A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12669124 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21107324 "DO"]
synonym: "BDPLT7" EXACT []
synonym: "bleeding abnormality due to deficiency of platelet biding of factor X" EXACT []
synonym: "familial prothrombin consumption inhibitor" EXACT []
synonym: "familial prothrombin conversion defect" EXACT []
synonym: "platelet-type bleeding disorder 7" EXACT []
synonym: "prothrombin consumption deficiency" EXACT []
synonym: "SCTS" EXACT []
xref: EFO:0000204
xref: GARD:4777
xref: MESH:C563120
xref: MONDO:0009885
xref: ORDO:806
is_a: DOID:225 ! syndrome
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:0111053
name: platelet-type bleeding disorder 15
def: "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23434115 "DO"]
synonym: "ACTN1-RELATED CONDITION" EXACT []
synonym: "BDPLT15" EXACT []
synonym: "BLEEDING DISORDER, PLATELET-TYPE, 15" EXACT []
synonym: "Bleeding disorder platelet type macrothrombocytopenia" EXACT []
synonym: "MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED" EXACT []
xref: MIM:615193
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:0111054
name: von Willebrand's disease 3
alt_id: MIM:277480
alt_id: OMIA:001058
def: "A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19630771 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3258663 "DO"]
synonym: "Type 3 Von Willebrand's Disease" EXACT []
synonym: "Type 3 VWD" EXACT []
synonym: "Von Willebrand disease III" EXACT []
synonym: "von Willebrand disease, severe form" EXACT []
synonym: "von Willebrand disease type 3" EXACT []
synonym: "von Willebrand disease type III" EXACT []
synonym: "VWD3" EXACT []
xref: ICD10CM:D68.03
xref: MESH:D056729
xref: NCI:C85213
xref: ORDO:166096
is_a: DOID:12531 ! von Willebrand's disease

[Term]
id: DOID:0111055
name: platelet-type bleeding disorder 20
def: "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26280575 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26769223 "DO"]
synonym: "autosomal dominant thrombocytopenia with platelet secretion defect" EXACT []
synonym: "BDPLT20" EXACT []
synonym: "SLFN14-RELATED CONDITION" EXACT []
xref: MIM:616913
xref: ORDO:466806
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:0111056
name: platelet-type bleeding disorder 3
alt_id: MIM:177820
def: "A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2052556 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8486780 "DO"]
synonym: "BDPLT3" EXACT []
synonym: "pseudo-Von Willebrand disease" EXACT []
synonym: "PT-VWD" EXACT []
synonym: "Von Willebrand disease, platelet type" EXACT []
synonym: "VWDP" EXACT []
xref: MESH:C536458
xref: ORDO:52530
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12531 ! von Willebrand's disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:0111057
name: platelet-type bleeding disorder 11
def: "A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19549989 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19552682 "DO"]
synonym: "BDPLT11" EXACT []
synonym: "GLYCOPROTEIN VI DEFICIENCY" EXACT []
synonym: "GP VI DEFICIENCY" EXACT []
xref: MIM:614201
xref: ORDO:98885
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:0111058
name: platelet-type bleeding disorder 12
alt_id: MIM:605735
def: "A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8562397 "DO"]
synonym: "BDPLT12" EXACT []
synonym: "PGHS1 deficiency" EXACT []
synonym: "platelet COX1 deficiency" EXACT []
synonym: "platelet cyclooxygenase 1 deficiency" EXACT []
synonym: "prostaglandin-endoperoxide synthase 1 deficiency, platelet" EXACT []
xref: MESH:C567786
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:0111059
name: Bernard-Soulier syndrome type A2
def: "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11222377 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1730088 "DO"]
synonym: "Bernard-Soulier Syndrome, Type A2, Autosomal Dominant" EXACT []
synonym: "BSSA2" EXACT []
xref: MIM:153670
is_a: DOID:2217 ! Bernard-Soulier syndrome

[Term]
id: DOID:0111060
name: Ambras type hypertrichosis universalis congenita
alt_id: MIM:145701
alt_id: RDO:0002235
def: "A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18328202 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8275569 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9712536 "DO"]
synonym: "Ambras syndrome" EXACT []
synonym: "congenital generalized hypertrichosis" BROAD []
synonym: "HTC1" EXACT []
xref: GARD:8206
xref: ICD10CM:Q84.2
xref: MESH:C536605
xref: ORDO:1023
is_a: DOID:420 ! hypertrichosis

[Term]
id: DOID:0111061
name: familial hypobetalipoproteinemia 2
alt_id: MIM:605019
alt_id: RDO:0014290
def: "A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20942659 "DO"]
synonym: "Fhbl2" EXACT []
synonym: "Hypobetalipoproteinemia, familial, 2" EXACT []
synonym: "HYPOLIPIDEMIA, FAMILIAL, COMBINED" EXACT []
xref: MESH:C565732
is_a: DOID:1390 ! hypobetalipoproteinemia

[Term]
id: DOID:0111062
name: familial hypobetalipoproteinemia 1
alt_id: MIM:615558
alt_id: RDO:0014668
def: "A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3399894 "DO"]
synonym: "Acanthocytosis with Hypobetalipoproteinemia" EXACT []
synonym: "APOB-RELATED CONDITION" BROAD []
synonym: "APOB-RELATED DISORDER" BROAD []
synonym: "FHBL1" EXACT []
synonym: "Hypobetalipoproteinemia, familial, associated with apob32" NARROW []
synonym: "Hypobetalipoproteinemia, Normotriglyceridemic" EXACT []
xref: MESH:C566267
is_a: DOID:1390 ! hypobetalipoproteinemia
is_a: DOID:9002123 ! Familial Hypobetalipoproteinemia, Apolipoprotein B

[Term]
id: DOID:0111063
name: hyperphosphatemic familial tumoral calcinosis
def: "A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. (DO)" [https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/15133511 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15590700 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16151858 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17710231 "DO"]
synonym: "cortical hyperostosis with hyperphosphatemia" EXACT []
synonym: "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" EXACT []
synonym: "familial Teutschlaender disease" EXACT []
synonym: "familial tumoral calcinosis" BROAD []
synonym: "HFTC" EXACT []
synonym: "HHS" EXACT []
synonym: "hypercalcemic tumoral calcinosis" EXACT []
synonym: "hyperostosis-hyperphosphatemia syndrome" EXACT []
synonym: "hyperostosis with hyperphosphatemia" EXACT []
synonym: "hyperphosphatemia-hyperostosis" EXACT []
synonym: "Hyperphosphatemia Tumoral Calcinosis" EXACT []
synonym: "hyperphosphatemic tumoral calcinosis" EXACT []
synonym: "Lipocalcinogranulomatosis" EXACT []
synonym: "Morbus Teutschlaender" EXACT []
synonym: "PHPTC" EXACT []
synonym: "primary hyperphosphatemic tumoral calcinosis" EXACT []
synonym: "tumoral calcinosis with hyperphosphatemia" EXACT []
xref: EFO:0009385
xref: GARD:10879
xref: ICD10CM:M11.2
xref: MESH:C538381
xref: MESH:C566870
xref: NCI:C131851
xref: ORDO:306661
is_a: DOID:0050459 ! hyperphosphatemia
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:182 ! calcinosis
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0111064
name: autosomal recessive distal hereditary motor neuronopathy 1
def: "A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11528396 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2801766 "DO"]
synonym: "autosomal recessive distal spinal muscular atrophy 1" EXACT []
synonym: "autosomal recessive spinal muscular atrophy with respiratory distress" EXACT []
synonym: "DHMN6" EXACT []
synonym: "diaphragmatic spinal muscular atrophy" EXACT []
synonym: "distal hereditary motor neuronopathy, autosomal recessive 1" EXACT []
synonym: "distal hereditary motor neuronopathy, Harding type VI" EXACT []
synonym: "distal hereditary motor neuronopathy type VI" EXACT []
synonym: "distal hereditary motor neuropathy, autosomal recessive 1" EXACT []
synonym: "distal hereditary motor neuropathy type 6" EXACT []
synonym: "distal-HMN type 6" EXACT []
synonym: "distal spinal muscular atrophy 1" EXACT []
synonym: "distal spinal muscular atrophy type 1" EXACT []
synonym: "DSMA1" EXACT []
synonym: "HMN6" EXACT []
synonym: "HMNR1" EXACT []
synonym: "HMN VI" EXACT []
synonym: "Hmnvi" EXACT []
synonym: "severe infantile axonal neuronopathy with respiratory failure" EXACT []
synonym: "severe infantile axonal neuropathy with respiratory failure" EXACT []
synonym: "severe infantile axonal neuropathy with respiratory failure type 1" EXACT []
synonym: "SIANRF" EXACT []
synonym: "SMARD1" EXACT []
synonym: "spinal muscular atrophy with respiratory distress" EXACT []
synonym: "Spinal muscular atrophy with respiratory distress type 1" NARROW []
synonym: "Spinal muscular atrophy with respiratory distress type 2" NARROW []
xref: EFO:0003107
xref: MESH:C536880
xref: MIM:604320
xref: MONDO:0018450
xref: ORDO:98920
is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy
is_a: DOID:12716 ! newborn respiratory distress syndrome

[Term]
id: DOID:0111065
name: autosomal recessive distal hereditary motor neuronopathy 2
alt_id: MIM:605726
def: "A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26078401 "DO"]
synonym: "autosomal recessive distal spinal muscular atrophy 2" EXACT []
synonym: "dHMNJ" EXACT []
synonym: "distal hereditary motor neuronopathy, Jerash type" EXACT []
synonym: "distal hereditary motor neuropathy, autosomal recessive 2" EXACT []
synonym: "distal hereditary motor neuropathy, Jerash type" EXACT []
synonym: "distal motor neuropathy, Jerash type" EXACT []
synonym: "distal spinal muscular atrophy 2" EXACT []
synonym: "DSMA2" EXACT []
synonym: "hereditary motor neuropathy, Jerash type" EXACT []
synonym: "HMNJ" EXACT []
synonym: "HMNR2" EXACT []
synonym: "spinal muscular atrophy, Jerash type" EXACT []
xref: GARD:10133
xref: MESH:C535715
xref: ORDO:139552
is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy

[Term]
id: DOID:0111066
name: congenital bile acid synthesis defect 5
def: "A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25168382 "DO"]
synonym: "ABCD3-RELATED CONDITION" EXACT []
synonym: "CBAS5" EXACT []
xref: MIM:616278
is_a: DOID:0050674 ! congenital bile acid synthesis defect

[Term]
id: DOID:0111067
name: congenital bile acid synthesis defect 6
def: "A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27647924 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27884763 "DO"]
synonym: "ACOX2-RELATED CONDITION" EXACT []
synonym: "CBAS6" EXACT []
xref: MIM:617308
xref: MONDO:0015015
is_a: DOID:0050674 ! congenital bile acid synthesis defect

[Term]
id: DOID:0111068
name: congenital bile acid synthesis defect 4
alt_id: MIM:214950
def: "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12512044 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5064535 "DO"]
synonym: "Cbas4" EXACT []
synonym: "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid" EXACT []
synonym: "Trihydroxycoprostanic acid in bile" EXACT []
xref: GARD:10046
xref: MESH:C535444
xref: ORDO:79095
is_a: DOID:0050674 ! congenital bile acid synthesis defect
is_a: DOID:1852 ! intrahepatic cholestasis
is_a: DOID:906 ! peroxisomal disease

[Term]
id: DOID:0111069
name: congenital bile acid synthesis defect 2
alt_id: MIM:235555
def: "A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12970144 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3198770 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303 "DO"]
synonym: "Bile acid synthesis defect, congenital, 2" EXACT []
synonym: "CBAS2" EXACT []
synonym: "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" EXACT []
synonym: "congenital bile acid synthesis defect type 2 (CBAS2)" EXACT []
xref: GARD:10045
xref: MESH:C535443
xref: ORDO:79303
is_a: DOID:0050674 ! congenital bile acid synthesis defect

[Term]
id: DOID:0111070
name: congenital bile acid synthesis defect 3
alt_id: MIM:613812
def: "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9802883 "DO"]
synonym: "CBAS3" EXACT []
synonym: "Congenital Bile Acid Synthesis Defect Type 3 (CBAS3)" EXACT []
synonym: "oxysterol 7-alpha-hydroxylase deficiency" EXACT []
xref: MESH:C566340
xref: ORDO:79302
is_a: DOID:0050674 ! congenital bile acid synthesis defect

[Term]
id: DOID:0111071
name: congenital bile acid synthesis defect 1
alt_id: MIM:607765
def: "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11067870 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3470305 "DO"]
synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" EXACT []
synonym: "CBAS1" EXACT []
synonym: "Congenital Bile Acid Synthesis Defect Type 1 (CBAS1)" EXACT []
synonym: "deficiency of 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase" EXACT []
synonym: "HSD3B7-RELATED CONDITION" EXACT []
xref: GARD:9813
xref: MESH:C535442
xref: ORDO:79301
is_a: DOID:0050674 ! congenital bile acid synthesis defect

[Term]
id: DOID:0111072
name: myostatin-related muscle hypertrophy
alt_id: MIM:614160
def: "A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15215484 "DO"]
synonym: "MSLHP" EXACT []
synonym: "muscle hypertrophy syndrome" EXACT []
xref: GARD:10238
xref: MESH:C536106
xref: ORDO:275534
is_a: DOID:66 ! muscle tissue disease
is_a: DOID:9000040 ! Hypertrophy

[Term]
id: DOID:0111073
name: progressive familial heart block
def: "A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/897853 "DO"]
synonym: "familial Lenegre disease" EXACT []
synonym: "familial Lev disease" EXACT []
synonym: "familial Lev-Lenegre disease" EXACT []
synonym: "familial PCCD" EXACT []
synonym: "hereditary bundle branch defect" EXACT []
synonym: "hereditary bundle branch system defect" EXACT []
synonym: "Lenegre Lev disease" EXACT []
synonym: "PFHB" EXACT []
synonym: "progressive cardiac conduction defect" EXACT []
xref: MESH:C566873
xref: MIM:PS113900
xref: ORDO:871
is_a: DOID:10273 ! heart conduction disease
is_a: DOID:990 ! congenital heart block

[Term]
id: DOID:0111074
name: progressive familial heart block type IA
def: "A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10471492 "DO", https://www.ncbi.nlm.nih.gov/pubmed/897853 "DO"]
synonym: "CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE" NARROW []
synonym: "HBBD  HEART BLOCK, NONPROGRESSIVE" NARROW []
synonym: "hereditary bundle branch system defect" NARROW []
synonym: "PCCD" EXACT []
synonym: "PFHB1A" EXACT []
synonym: "PFHBIA" EXACT []
xref: MIM:113900
xref: NCI:C126651
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9003912 ! Bundle-Branch Block
is_a: DOID:9009094 ! Progressive Familial Heart Block Type I

[Term]
id: DOID:0111075
name: progressive familial heart block type II
alt_id: MIM:140400
alt_id: RDO:0013242
def: "A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16086176 "DO", https://www.ncbi.nlm.nih.gov/pubmed/897853 "DO"]
synonym: "PFHB2" EXACT []
synonym: "PFHBII" EXACT []
xref: MESH:C564202
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111073 ! progressive familial heart block

[Term]
id: DOID:0111076
name: progressive familial heart block type IB
alt_id: MIM:604559
def: "A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19726882 "DO", https://www.ncbi.nlm.nih.gov/pubmed/897853 "DO"]
synonym: "PFHB1B" EXACT []
synonym: "PFHBIB" EXACT []
synonym: "progressive familial heart block type 1B" EXACT []
synonym: "TRPM4-RELATED CONDITION" BROAD []
synonym: "TRPM4-RELATED DISORDER" BROAD []
xref: MESH:C567037
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9009094 ! Progressive Familial Heart Block Type I

[Term]
id: DOID:0111077
name: pyruvate kinase deficiency of red cells
alt_id: MIM:266200
alt_id: OMIA:000844
def: "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1896471 "DO", https://www.ncbi.nlm.nih.gov/pubmed/728372 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7706479 "DO"]
synonym: "hemolytic anemia due to red cell pyruvate kinase deficiency" EXACT []
synonym: "PK Deficiency" EXACT []
synonym: "PKLR-RELATED CONDITION" BROAD []
synonym: "pyruvate kinase deficiency" EXACT []
synonym: "pyruvate kinase deficiency of erythrocyte" EXACT []
xref: GARD:7514
xref: MESH:C564858
xref: NCI:C99037
xref: ORDO:766
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia
is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors

[Term]
id: DOID:0111078
name: tibial muscular dystrophy
def: "A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12145747 "DO", https://www.ncbi.nlm.nih.gov/pubmed/196233 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8503797 "DO"]
synonym: "distal titinopathy" EXACT []
synonym: "Finnish Markesbery muscular dystrophy" EXACT []
synonym: "Finnish tibial muscular dystrophy" EXACT []
synonym: "tardive tibial muscular dystrophy" EXACT []
synonym: "tibial muscular dystrophies" EXACT []
synonym: "TMD" EXACT []
synonym: "Udd distal myopathy" EXACT []
synonym: "Udd Markesbery muscular dystrophy" EXACT []
synonym: "Udd myopathy" EXACT []
synonym: "Udd type distal myopathy" EXACT []
xref: MIM:600334
xref: ORDO:609
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080001 ! bone disease
is_a: DOID:11720 ! distal myopathy
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0111079
name: birdshot chorioretinopathy
alt_id: MIM:605808
def: "A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11226280 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16263368 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18214792 "DO"]
synonym: "birdshot chorioretinitis" EXACT []
synonym: "birdshot retinochoroiditis" EXACT []
synonym: "birdshot retinochoroidopathy" EXACT []
synonym: "BSCR" EXACT []
synonym: "vitiliginous choroiditis" EXACT []
xref: GARD:5926
xref: MESH:D000080365
xref: MONDO:0011599
xref: ORDO:179
is_a: DOID:8886 ! chorioretinitis
is_a: DOID:9003271 ! White Dot Syndromes

[Term]
id: DOID:0111080
name: Fanconi anemia complementation group V
def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27500492 "DO"]
synonym: "Fanconi anemia of complementation group V" EXACT []
synonym: "FANCV" EXACT []
xref: MIM:617243
xref: MONDO:0014985
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111081
name: Fanconi anemia complementation group T
def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26046368 "DO"]
synonym: "Fanconi anemia of complementation group T" EXACT []
synonym: "FANCT" EXACT []
xref: MIM:616435
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111082
name: Fanconi anemia complementation group L
def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12973351 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19405097 "DO"]
synonym: "FANCL" EXACT []
xref: MIM:614083
xref: NCI:C164677
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111083
name: Fanconi anemia complementation group D2
def: "A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11239453 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17436244 "DO"]
synonym: "FA4" EXACT []
synonym: "FACD" EXACT []
synonym: "FAD2" EXACT []
synonym: "FANCD" EXACT []
synonym: "FANCD2" EXACT []
synonym: "Fanconi anemia, complementation group D" EXACT []
synonym: "Fanconi pancytopenia, type 4" EXACT []
xref: MIM:227646
xref: NCI:C125706
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111084
name: Fanconi anemia complementation group E
def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11001585 "DO"]
synonym: "FACE" EXACT []
synonym: "FANCE" EXACT []
synonym: "FANCE-RELATED CONDITION" EXACT []
xref: MIM:600901
xref: NCI:C125709
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111085
name: Fanconi anemia complementation group U
def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22232082 "DO"]
synonym: "Fanconi anemia of complementation group U" EXACT []
synonym: "FANCU" EXACT []
xref: MIM:617247
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111086
name: Fanconi anemia complementation group G
def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9806548 "DO"]
synonym: "FANCG" EXACT []
xref: EFO:0009046
xref: MIM:614082
xref: NCI:C125708
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111087
name: Fanconi anemia complementation group C
def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1574115 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9272737 "DO"]
synonym: "FA3" EXACT []
synonym: "FAC" EXACT []
synonym: "FACC" EXACT []
synonym: "FANCC" EXACT []
synonym: "FANCONI ANEMIA, GROUP C" EXACT []
synonym: "FANCONI PANCYTOPENIA, TYPE 3" EXACT []
xref: MIM:227645
xref: NCI:C125704
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111088
name: Fanconi anemia complementation group F
def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10615118 "DO"]
synonym: "FANCF" EXACT []
xref: EFO:0009045
xref: MIM:603467
xref: NCI:C125707
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111089
name: Fanconi anemia complementation group D1
alt_id: MIM:605724
def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12065746 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14670928 "DO"]
synonym: "FAD1" EXACT []
synonym: "FANCD1" EXACT []
xref: MESH:C563980
xref: NCI:C125705
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111090
name: Fanconi anemia complementation group R
def: "A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26681308 "DO"]
synonym: "Fanconi anemia of complementation group R" EXACT []
synonym: "FANCR" EXACT []
xref: MIM:617244
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111091
name: Fanconi anemia complementation group I
alt_id: MIM:609053
def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17452773 "DO"]
synonym: "FANCI" EXACT []
xref: MESH:C563802
xref: NCI:C129026
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111092
name: Fanconi anemia complementation group P
def: "A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21240275 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21240277 "DO"]
synonym: "FANCP" EXACT []
xref: MIM:613951
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111093
name: Fanconi anemia complementation group Q
def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23623386 "DO"]
synonym: "FANCQ" EXACT []
xref: MIM:615272
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111094
name: Fanconi anemia complementation group N
alt_id: MIM:610832
def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17200671 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17200672 "DO"]
synonym: "FANCN" EXACT []
xref: MESH:C563657
xref: NCI:C176894
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111095
name: Fanconi anemia complementation group A
alt_id: RDO:9002144
def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10094191 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9371798 "DO"]
synonym: "FANCA" EXACT []
synonym: "FANCA-RELATED CONDITION" EXACT []
synonym: "FANCONI ANEMIA, GROUP A" EXACT []
xref: EFO:0009044
xref: MIM:227650
xref: NCI:C125702
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:0111096
name: Fanconi anemia complementation group O
def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20400963 "DO"]
synonym: "FANCO" EXACT []
synonym: "RAD51C-RELATED CONDITION" BROAD []
xref: MIM:613390
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111097
name: Fanconi anemia complementation group J
alt_id: MIM:609054
def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16116424 "DO"]
synonym: "BRIP1-related disorder" NARROW []
synonym: "FANCJ" EXACT []
xref: MESH:C563801
xref: NCI:C129027
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111098
name: Fanconi anemia complementation group B
alt_id: MIM:300514
def: "A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15502827 "DO"]
synonym: "FA2" EXACT []
synonym: "FACB" EXACT []
synonym: "FANCB" EXACT []
synonym: "Fanconi pancytopenia type 2" EXACT []
xref: MESH:C564497
xref: NCI:C125703
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:0111099
name: maturity-onset diabetes of the young type 1
alt_id: MIM:125850
def: "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9294105 "DO"]
synonym: "Diabetes Mellitus Type 2" EXACT []
synonym: "Mild Juvenile Diabetes Mellitus" EXACT []
synonym: "MODY1" EXACT []
synonym: "MODY, Type 1" EXACT []
xref: MESH:C565101
is_a: DOID:0050524 ! maturity-onset diabetes of the young

[Term]
id: DOID:0111100
name: maturity-onset diabetes of the young type 2
alt_id: MIM:125851
def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1570017 "DO"]
synonym: "maturity-onset diabetes of the young, type II" EXACT []
synonym: "MODY2" EXACT []
synonym: "MODY, Glucokinase-Related" EXACT []
synonym: "MODY, type 2" EXACT []
synonym: "MODY, type II" EXACT []
xref: MESH:C564219
is_a: DOID:0050524 ! maturity-onset diabetes of the young

[Term]
id: DOID:0111101
name: maturity-onset diabetes of the young type 5
alt_id: MIM:137920
def: "A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11085914 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15930087 "DO"]
synonym: "atypical familial juvenile hyperuricemic nephropathy" EXACT []
synonym: "atypical FJHN" EXACT []
synonym: "CAKUT WITH DIABETES" EXACT []
synonym: "CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES" EXACT []
synonym: "familial hypoplastic glomerulocystic kidney" EXACT []
synonym: "glomerulocystic kidney disease, hypoplastic type" EXACT []
synonym: "MODY5" EXACT []
synonym: "RCAD" EXACT []
synonym: "renal cysts and diabetes syndrome" EXACT []
xref: MESH:C535520
xref: NCI:C123018
is_a: DOID:0050524 ! maturity-onset diabetes of the young
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:331 ! central nervous system disease

[Term]
id: DOID:0111102
name: maturity-onset diabetes of the young type 3
alt_id: MIM:600496
def: "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11575290 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7795649 "DO"]
synonym: "MODY3" EXACT []
synonym: "MODY, Type 3" EXACT []
xref: MESH:C563933
is_a: DOID:0050524 ! maturity-onset diabetes of the young

[Term]
id: DOID:0111103
name: maturity-onset diabetes of the young type 4
alt_id: MIM:606392
def: "A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9326926 "DO"]
synonym: "maturity-onset diabetes of the young, type IV" EXACT []
synonym: "MODY4" EXACT []
synonym: "MODY, type 4" EXACT []
synonym: "PDX1-RELATED DISORDER" BROAD []
xref: MESH:C563451
is_a: DOID:0050524 ! maturity-onset diabetes of the young

[Term]
id: DOID:0111104
name: maturity-onset diabetes of the young type 6
alt_id: MIM:606394
def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10545951 "DO"]
synonym: "maturity-onset diabetes of the young, type VI" EXACT []
synonym: "MODY6" EXACT []
synonym: "MODY, type 6" EXACT []
synonym: "NEUROD1-RELATED CONDITION" BROAD []
xref: MESH:C565231
is_a: DOID:0050524 ! maturity-onset diabetes of the young

[Term]
id: DOID:0111105
name: maturity-onset diabetes of the young type 8
alt_id: MIM:609812
def: "A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16369531 "DO"]
synonym: "diabetes and pancreatic exocrine" EXACT []
synonym: "diabetes and pancreatic exocrine dysfunction" EXACT []
synonym: "Diabetes-Pancreatic Exocrine Dysfunction Syndrome" EXACT []
synonym: "DPED" EXACT []
synonym: "maturity-onset diabetes of the young type 8 with exocrine dysfunction" EXACT []
synonym: "maturity-onset diabetes of the young, type VIII" EXACT []
synonym: "MODY8" EXACT []
synonym: "MODY type 8" EXACT []
xref: MESH:C565225
is_a: DOID:0050524 ! maturity-onset diabetes of the young

[Term]
id: DOID:0111106
name: maturity-onset diabetes of the young type 7
alt_id: MIM:610508
def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15774581 "DO"]
synonym: "KLF11-RELATED CONDITION" EXACT []
synonym: "MODY7" EXACT []
xref: MESH:C566466
is_a: DOID:0050524 ! maturity-onset diabetes of the young

[Term]
id: DOID:0111107
name: maturity-onset diabetes of the young type 9
alt_id: MIM:612225
def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17426099 "DO"]
synonym: "MODY9" EXACT []
xref: MESH:C567393
is_a: DOID:0050524 ! maturity-onset diabetes of the young

[Term]
id: DOID:0111108
name: maturity-onset diabetes of the young type 10
def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18162506 "DO"]
synonym: "MODY10" EXACT []
xref: MIM:613370
xref: RDO:0009825
is_a: DOID:0050524 ! maturity-onset diabetes of the young

[Term]
id: DOID:0111109
name: maturity-onset diabetes of the young type 11
def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19667185 "DO"]
synonym: "BLK-RELATED CONDITION" EXACT []
synonym: "MODY11" EXACT []
xref: MIM:613375
xref: MONDO:0013242
is_a: DOID:0050524 ! maturity-onset diabetes of the young

[Term]
id: DOID:0111110
name: maturity-onset diabetes of the young type 13
alt_id: RDO:9000758
def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15784703 "DO"]
synonym: "MODY13" EXACT []
synonym: "MODY type 13" EXACT []
xref: MIM:616329
is_a: DOID:0050524 ! maturity-onset diabetes of the young
created_by: rgd
creation_date: 2015-05-12T00:00:00Z

[Term]
id: DOID:0111111
name: maturity-onset diabetes of the young type 14
def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26073777 "DO"]
synonym: "maturity-onset diabetes of the young-14" EXACT []
synonym: "MODY14" EXACT []
xref: MIM:616511
xref: RDO:9001645
is_a: DOID:0050524 ! maturity-onset diabetes of the young
created_by: rgd
creation_date: 2017-05-04T00:00:00Z

[Term]
id: DOID:0111112
name: nephronophthisis 1
def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9326933 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9361039 "DO"]
synonym: "juvenile nephronophthisis" EXACT []
synonym: "juvenile nephronophthisis 1" EXACT []
synonym: "Nephronophthisis, Familial Juvenile" EXACT []
synonym: "NPH1" EXACT []
synonym: "NPHP1" EXACT []
synonym: "type 1 nephronophthisis" EXACT []
xref: MESH:C537699
xref: MIM:256100
xref: MONDO:0009728
xref: NCI:C74998
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111113
name: nephronophthisis 2
alt_id: MIM:602088
def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12872123 "DO"]
synonym: "infantile nephronophthisis" EXACT []
synonym: "infantile nephronophthisis 2" EXACT []
synonym: "NPH2" EXACT []
synonym: "NPHP2" EXACT []
xref: MESH:C566582
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111114
name: nephronophthisis 3
alt_id: MIM:604387
def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12872122 "DO"]
synonym: "adolescent nephronophthisis" EXACT []
synonym: "NPH3" EXACT []
synonym: "NPHP3" EXACT []
xref: MESH:C565780
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111115
name: nephronophthisis 4
def: "A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12244321 "DO"]
synonym: "juvenile nephronophthisis 4" EXACT []
synonym: "NPHP4" EXACT []
xref: MESH:C564640
xref: MIM:606966
xref: MONDO:0011752
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111116
name: nephronophthisis 7
alt_id: MIM:611498
def: "A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17618285 "DO"]
synonym: "NPHP7" EXACT []
xref: MESH:C566930
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111117
name: nephronophthisis-like nephropathy 1
def: "A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20179356 "DO"]
synonym: "nephronophthisis-like nephropathy" BROAD []
synonym: "NPHPL1" EXACT []
xref: MIM:613159
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111118
name: nephronophthisis 11
def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19508969 "DO"]
synonym: "NPHP11" EXACT []
xref: MIM:613550
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111119
name: nephronophthisis 12
def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21258341 "DO"]
synonym: "JBTS11" NARROW []
synonym: "JOUBERT SYNDROME 11" NARROW []
synonym: "NPHP12" EXACT []
synonym: "TTC21B-RELATED DISORDER" BROAD []
xref: MIM:613820
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111120
name: nephronophthisis 9
def: "A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18199800 "DO"]
synonym: "NPHP9" EXACT []
xref: MIM:613824
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111121
name: nephronophthisis 13
def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22019273 "DO"]
synonym: "NPHP13" EXACT []
xref: MIM:614377
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111122
name: nephronophthisis 14
def: "A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22863007 "DO"]
synonym: "JBTS19" RELATED []
synonym: "JOUBERT SYNDROME 19" RELATED []
synonym: "NPHP14" EXACT []
synonym: "ZNF423-RELATED CONDITION" BROAD []
xref: MIM:614844
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111123
name: nephronophthisis 15
def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22863007 "DO"]
synonym: "NPHP15" EXACT []
xref: MIM:614845
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111124
name: nephronophthisis 16
def: "A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23793029 "DO"]
synonym: "NPHP16" EXACT []
xref: MIM:615382
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111125
name: nephronophthisis 18
def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24882706 "DO"]
synonym: "NPHP18" EXACT []
xref: MIM:615862
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111126
name: nephronophthisis 19
def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25557784 "DO"]
synonym: "NPHP19" EXACT []
xref: MIM:616217
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111127
name: nephronophthisis 20
def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28089251 "DO"]
synonym: "NPHP20" EXACT []
xref: MIM:617271
xref: MONDO:0014997
is_a: DOID:12712 ! nephronophthisis

[Term]
id: DOID:0111128
name: focal segmental glomerulosclerosis 1
alt_id: MIM:603278
def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1429048 "DO"]
synonym: "focal sclerosis with hyalinosis" EXACT []
synonym: "FSGS1" EXACT []
synonym: "segmental glomerulosclerosis" RELATED []
xref: MESH:C538457
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1312 ! focal segmental glomerulosclerosis

[Term]
id: DOID:0111129
name: focal segmental glomerulosclerosis 2
alt_id: MIM:603965
def: "A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15924139 "DO"]
synonym: "FSGS2" EXACT []
synonym: "TRPC6-RELATED CONDITION" EXACT []
xref: MESH:C565831
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1312 ! focal segmental glomerulosclerosis

[Term]
id: DOID:0111130
name: focal segmental glomerulosclerosis 5
alt_id: MIM:613237
def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20023659 "DO"]
synonym: "FSGS5" EXACT []
synonym: "INF2-RELATED CONDITION" BROAD []
xref: MESH:C567687
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1312 ! focal segmental glomerulosclerosis

[Term]
id: DOID:0111131
name: focal segmental glomerulosclerosis 6
def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21756023 "DO"]
synonym: "FSGS6" EXACT []
synonym: "MYO1E-RELATED CONDITION" EXACT []
xref: MIM:614131
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1312 ! focal segmental glomerulosclerosis

[Term]
id: DOID:0111132
name: focal segmental glomerulosclerosis 7
def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24676634 "DO"]
synonym: "FSGS7" EXACT []
synonym: "PAX2-RELATED CONDITION" BROAD []
xref: MIM:616002
xref: NCI:C202604
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1312 ! focal segmental glomerulosclerosis
created_by: rgd
creation_date: 2017-02-16T00:00:00Z

[Term]
id: DOID:0111133
name: focal segmental glomerulosclerosis 8
def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24676636 "DO"]
synonym: "ANLN-RELATED CONDITION" EXACT []
synonym: "FSGS8" EXACT []
xref: ICD10CM:N04.1
xref: MIM:616032
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1312 ! focal segmental glomerulosclerosis
created_by: rgd
creation_date: 2017-02-16T00:00:00Z

[Term]
id: DOID:0111134
name: focal segmental glomerulosclerosis 9
def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25557779 "DO"]
synonym: "CRB2-RELATED CONDITION" BROAD []
synonym: "FSGS9" EXACT []
xref: MIM:616220
xref: MONDO:0014539
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1312 ! focal segmental glomerulosclerosis
created_by: rgd
creation_date: 2017-02-16T00:00:00Z

[Term]
id: DOID:0111135
name: congenital generalized lipodystrophy type 1
def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11967537 "DO"]
synonym: "AGPAT2-related Brunzell syndrome" EXACT []
synonym: "Berardinelli Seip congenital lipodystrophy type 1" EXACT []
synonym: "BSCL1" EXACT []
synonym: "CGL1" EXACT []
xref: GARD:84
xref: MIM:608594
xref: MONDO:0012071
is_a: DOID:0050585 ! congenital generalized lipodystrophy
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0111136
name: congenital generalized lipodystrophy type 2
def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11479539 "DO"]
synonym: "Berardinelli-Seip congenital lipodystrophy type 2" EXACT []
synonym: "Berardinelli-Seip syndrome" EXACT []
synonym: "Berardinelli-Seip syndrome type 2" EXACT []
synonym: "Brunzell syndrome BSCL2-related" EXACT []
synonym: "CGL2" EXACT []
synonym: "total lipodystrophy and acromegaloid gigantism" EXACT []
xref: GARD:10212
xref: MIM:269700
is_a: DOID:0050585 ! congenital generalized lipodystrophy
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0111137
name: congenital generalized lipodystrophy type 3
alt_id: MIM:612526
def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18237401 "DO"]
synonym: "Berardinelli-Seip Congenital Lipodystrophy, Type 3" EXACT []
synonym: "BSCL3" EXACT []
synonym: "CGL3" EXACT []
xref: ICD10CM:E88.1
xref: MESH:C567282
is_a: DOID:0050585 ! congenital generalized lipodystrophy

[Term]
id: DOID:0111138
name: congenital generalized lipodystrophy type 4
def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19726876 "DO"]
synonym: "Berardinelli-Seip congenital lipodystrophy type 4, with muscular dystrophy" EXACT []
synonym: "Brunzell syndrome AGPAT2-related" EXACT []
synonym: "BSCL4" EXACT []
synonym: "CGL4" EXACT []
synonym: "GCL4" EXACT []
synonym: "generalised congenital lipodystrophy type 4" EXACT []
synonym: "generalised congenital lipodystrophy with myopathy" EXACT []
synonym: "generalized congenital lipodystrophy with myopathy" EXACT []
xref: GARD:10937
xref: MESH:C567642
xref: MIM:613327
xref: MONDO:0013225
xref: ORDO:228429
is_a: DOID:0050585 ! congenital generalized lipodystrophy

[Term]
id: DOID:0111139
name: mitochondrial complex III deficiency
def: "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25914718 "DO"]
xref: GARD:8295
xref: MIM:PS124000
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:0111140
name: IGSF1 deficiency syndrome
def: "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3915563/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23143598 "DO"]
synonym: "central hypothyroidism and testicular enlargement" EXACT []
synonym: "central hypothyroidism with testicular enlargement" EXACT []
synonym: "CHTE" EXACT []
synonym: "X-linked central congenital hypothyroidism with late-onset macroorchidism" EXACT []
synonym: "X-linked central congenital hypothyroidism with late-onset testicular enlargement" EXACT []
xref: MIM:300888
xref: ORDO:329235
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1459 ! hypothyroidism
is_a: DOID:2519 ! testicular disease

[Term]
id: DOID:0111141
name: delayed sleep phase syndrome
def: "A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12736803 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17445238 "DO"]
synonym: "delayed sleep phase disorder, susceptibility to" RELATED []
synonym: "delayed sleep phase syndrome, susceptibility to" RELATED []
synonym: "DSPD" EXACT []
xref: MIM:614163
is_a: DOID:0050628 ! advanced sleep phase syndrome

[Term]
id: DOID:0111142
name: oligomeganephronia
def: "A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9794553 "DO"]
synonym: "Oligomeganephronic renal hypoplasia" EXACT []
xref: GARD:4066
xref: ICD10CM:Q60.4
xref: ORDO:2260
is_a: DOID:0080204 ! renal hypoplasia

[Term]
id: DOID:0111143
name: mitochondrial complex V (ATP synthase) deficiency
def: "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21874297 "DO"]
synonym: "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type" NARROW []
synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type" NARROW []
xref: GARD:1459
xref: MIM:PS604273
xref: ORDO:254913
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:0111144
name: preterm premature rupture of the membranes
alt_id: MIM:610504
def: "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15715585/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/17400872 "DO"]
synonym: "PPROM" EXACT []
synonym: "preterm premature rupture of fetal membranes" EXACT []
synonym: "preterm PROM (pregnancy)" EXACT []
xref: MESH:C563032
xref: MONDO:0012511
is_a: DOID:229 ! female reproductive system disease
is_a: DOID:9005304 ! Fetal Membranes, Premature Rupture

[Term]
id: DOID:0111145
name: ureteropelvic junction obstruction
def: "A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28695117 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28992643 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29068584 "DO"]
is_a: DOID:5200 ! urinary tract obstruction

[Term]
id: DOID:0111146
name: acquired von Willebrand syndrome
def: "A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28028990 "DO"]
synonym: "AVWS" EXACT []
xref: GARD:5573
xref: ICD10CM:D68.04
xref: ORDO:99147
is_a: DOID:1247 ! blood coagulation disease

[Term]
id: DOID:0111147
name: angioimmunoblastic T-cell lymphoma
def: "A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis. (DO)" [https://rarediseases.org/rare-diseases/angioimmunoblastic-t-cell-lymphoma/ "DO", https://www.lymphoma.org/aboutlymphoma/nhl/aitl/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/22700722 "DO"]
xref: EFO:0000255
xref: GARD:11973
xref: ICD10CM:C86.5
xref: ICDO:9705/3
xref: NCI:C7528
xref: ORDO:86886
is_a: DOID:0050749 ! peripheral T-cell lymphoma

[Term]
id: DOID:0111148
name: isolated ectopia lentis
def: "A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20141359 "DO"]
synonym: "familial ectopia lentis" EXACT []
synonym: "IEL" EXACT []
xref: ICD10CM:Q12.1
xref: ICD9CM:743.37
xref: MESH:C536184
xref: NCI:C125484
xref: NCI:C34566
xref: ORDO:1885
is_a: DOID:9004201 ! Ectopia Lentis

[Term]
id: DOID:0111149
name: autosomal recessive isolated ectopia lentis 2
alt_id: MIM:225100
def: "An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19200529 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20141359 "DO"]
synonym: "ADAMTSL4-RELATED CONDITION" BROAD []
synonym: "ECTOL2" EXACT []
synonym: "Isolated Ectopia Lentis, Autosomal Recessive" EXACT []
xref: MESH:C567124
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111148 ! isolated ectopia lentis

[Term]
id: DOID:0111150
name: autosomal dominant isolated ectopia lentis 1
def: "An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15054843 "DO"]
synonym: "autosomal dominant isolated ectopia lentis" EXACT []
synonym: "ECTOL1" EXACT []
synonym: "familial ectopia lentis" EXACT []
xref: MIM:129600
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111148 ! isolated ectopia lentis

[Term]
id: DOID:0111151
name: Prinzmetal angina
alt_id: MESH:C536421
def: "A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. (DO)" [http://www.heart.org/HEARTORG/Conditions/HeartAttack/DiagnosingaHeartAttack/Prinzmetals-or-Prinzmetal-Angina-Variant-Angina-and-Angina-Inversa_UCM_435674_Article.jsp#.WVavl2cicRk "DO", https://www.ncbi.nlm.nih.gov/pubmed/28613527 "DO"]
synonym: "angina inversa" EXACT []
synonym: "Prinzmetal's angina" EXACT []
synonym: "Prinzmetal's variant angina" EXACT []
synonym: "Prinzmetals angina" EXACT []
synonym: "variant angina" EXACT []
synonym: "variant angina pectoris" EXACT []
xref: EFO:1000013
xref: MESH:D000788
is_a: DOID:11840 ! coronary artery vasospasm
is_a: DOID:8805 ! intermediate coronary syndrome

[Term]
id: DOID:0111152
name: multicentric Castleman disease
def: "A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. (DO)" [http://www.bloodjournal.org/content/129/12/1646 "DO", https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease "DO"]
synonym: "HHV-8-associated multicentric Castleman disease" EXACT []
synonym: "HHV8 Multicentric Castleman Disease" EXACT []
synonym: "Idiopathic multicentric Castleman's disease" EXACT []
synonym: "KSHV-Associated Multicentric Castleman Disease" EXACT []
synonym: "KSHV Muticentric Castleman Disease" EXACT []
synonym: "MCD" EXACT []
synonym: "Multi-centric Castleman's Disease" EXACT []
synonym: "Multicentric Castleman's disease" EXACT []
synonym: "multicentric giant lymph node hyperplasia" EXACT []
synonym: "Multicentric plasma cell variant of Castleman's disease" EXACT []
synonym: "plasmablastic multicentric Castleman disease" EXACT []
synonym: "PMCD" EXACT []
synonym: "Tafro syndrome" EXACT []
xref: GARD:9644
xref: MESH:C537372
xref: NCI:C27855
xref: ORDO:93686
is_a: DOID:0111157 ! Castleman disease

[Term]
id: DOID:0111153
name: congenital mirror movement disorder
def: "A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder#sourcesforpage "DO", https://www.ncbi.nlm.nih.gov/pubmed/25763452 "DO"]
synonym: "familial congenital controlateral synkinesia" EXACT []
synonym: "familial congenital mirror movements" EXACT []
synonym: "hereditary congenital controlateral synkinesia" EXACT []
synonym: "hereditary congenital mirror movements" EXACT []
synonym: "isolated congenital controlateral synkinesia" EXACT []
synonym: "isolated congenital mirror movements" EXACT []
xref: MIM:PS157600
xref: ORDO:238722
is_a: DOID:0080015 ! physical disorder
is_a: DOID:480 ! movement disease

[Term]
id: DOID:0111154
name: postural orthostatic tachycardia syndrome
def: "A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. (DO)" [https://rarediseases.info.nih.gov/diseases/9597/postural-orthostatic-tachycardia-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23580201 "DO"]
synonym: "chronic orthostatic intolerance" EXACT []
synonym: "familial orthostatic tachycardia due to norepinephrine transporter deficiency" EXACT []
synonym: "irritable heart" EXACT []
synonym: "orhtostatic intolerance" EXACT []
synonym: "orthostatic intolerance" EXACT []
synonym: "orthostatic intolerance due to NET deficiency" EXACT []
synonym: "postural tachycardia syndrome" EXACT []
synonym: "postural tachycardia syndrome due to NET deficiency" EXACT []
synonym: "POTS" EXACT []
synonym: "soldiers heart" EXACT []
xref: EFO:1000645
xref: GARD:9597
xref: ICD10CM:I95.1
xref: MESH:D054972
xref: ORDO:443236
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:10273 ! heart conduction disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004453 ! Orthostatic Intolerance

[Term]
id: DOID:0111155
name: autosomal recessive spinocerebellar ataxia 21
def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26581903 "DO"]
synonym: "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" EXACT []
synonym: "autosomal recessive spinocerebellar ataxia 21 with hepatopathy" EXACT []
synonym: "CALFAN SYNDROME" EXACT []
synonym: "SCAR21" EXACT []
synonym: "SCYL1-RELATED CONDITION" EXACT []
xref: MIM:616719
xref: NCI:C159655
xref: ORDO:466794
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0111156
name: spermatogenic failure 9
alt_id: DOID:0070175
def: "A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. (DO)" [https://ghr.nlm.nih.gov/condition/globozoospermia "DO", https://www.ncbi.nlm.nih.gov/pubmed/10471512 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21397064 "DO"]
synonym: "complete globozoospermia" EXACT []
synonym: "SPGF9" EXACT []
synonym: "total globozoospermia" EXACT []
xref: MIM:613958
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112312 ! male infertility due to globozoospermia

[Term]
id: DOID:0111157
name: Castleman disease
alt_id: RDO:0001923
def: "A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. (DO)" [https://rarediseases.org/rare-diseases/castlemans-disease/ "DO"]
synonym: "angiofollicular lymph hyperplasia" EXACT []
synonym: "Angiofollicular Lymph Hyperplasias" EXACT []
synonym: "Angiofollicular Lymph Node Hyperplasia" EXACT []
synonym: "Angiofollicular Lymphoid Hyperplasia" EXACT []
synonym: "Angiofollicular Lymphoid Hyperplasias" EXACT []
synonym: "Castleman's Disease" EXACT []
synonym: "Castleman's Tumor" EXACT []
synonym: "Castlemans Disease" EXACT []
synonym: "Castlemans Tumor" EXACT []
synonym: "Castleman Tumor" EXACT []
synonym: "giant lymph node hyperplasia" EXACT []
synonym: "GLNH" EXACT []
synonym: "lymphoid hamartoma" EXACT []
xref: EFO:1001332
xref: GARD:12656
xref: ICD10CM:D47.Z2
xref: MESH:D005871
xref: NCI:C3056
xref: ORDO:160
is_a: DOID:0060704 ! lymphoproliferative syndrome

[Term]
id: DOID:0111158
name: SADDAN
def: "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. (DO)" [https://ghr.nlm.nih.gov/condition/saddan "DO", https://www.ncbi.nlm.nih.gov/pubmed/10053006 "DO"]
synonym: "SADDAN dysplasia" EXACT []
synonym: "SADDAN dysplasias" EXACT []
synonym: "severe achondroplasia with developmental delay and acanthosis nigricans" EXACT []
xref: GARD:9443
xref: MIM:616482
xref: ORDO:85165
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:4480 ! achondroplasia

[Term]
id: DOID:0111159
name: partial trisomy distal 4q
alt_id: RDO:0003518
def: "A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. (DO)" [https://rarediseases.org/rare-diseases/chromosome-4-partial-trisomy-distal-4q/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23449628 "DO"]
synonym: "chromosome 4, partial trisomy 4q" EXACT []
synonym: "chromosome 4, partial trisomy distal 4q" EXACT []
synonym: "distal 4q trisomy" EXACT []
synonym: "Dup(4q) Syndrome, Partial" EXACT []
synonym: "Duplication 4q Syndrome, Partial" EXACT []
synonym: "partial trisomy 4q syndrome" EXACT []
xref: MESH:C537642
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:0111160
name: camptodactyly-tall stature-scoliosis-hearing loss syndrome
alt_id: MIM:610474
def: "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. (DO)" [https://rarediseases.info.nih.gov/diseases/10012/camptodactyly-tall-stature-and-hearing-loss-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/17033969 "DO"]
synonym: "camptodactyly, tall stature, and hearing loss syndrome" EXACT []
synonym: "CATSHLS" EXACT []
synonym: "CATSHL syndrome" EXACT []
xref: MESH:C537975
xref: ORDO:85164
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0111161
name: Crouzon syndrome-acanthosis nigricans syndrome
alt_id: MIM:612247
def: "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. (DO)" [https://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans "DO", https://www.ncbi.nlm.nih.gov/pubmed/2650599 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7493034 "DO"]
synonym: "CAN" EXACT []
synonym: "Crouzon-dermoskeletal syndrome" EXACT []
synonym: "Crouzonodermoskeletal Syndrome" EXACT []
synonym: "Crouzon syndrome with acanthosis nigricans" EXACT []
xref: MESH:C567382
xref: ORDO:93262
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:2339 ! Crouzon syndrome
is_a: DOID:3138 ! acanthosis nigricans

[Term]
id: DOID:0111162
name: epidermal nevus
alt_id: MIM:162900
def: "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7526210 "DO"]
synonym: "epidermal naevus" EXACT []
synonym: "NEVUS SEBACEOUS" NARROW []
synonym: "NEVUS, WOOLLY HAIR" NARROW []
synonym: "nonepidermolytic keratinocytic nevus" EXACT []
xref: MESH:C580062
is_a: DOID:37 ! skin disease
is_a: DOID:9002969 ! Nevus

[Term]
id: DOID:0111163
name: molybdenum cofactor deficiency type B
alt_id: MIM:252160
def: "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10053004 "DO"]
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" EXACT []
synonym: "MOCODB" EXACT []
synonym: "MOCOD type B" EXACT []
synonym: "molybdenum cofactor deficiency, complementation group B" EXACT []
xref: MESH:C565373
xref: ORDO:308393
is_a: DOID:0111165 ! molybdenum cofactor deficiency

[Term]
id: DOID:0111164
name: molybdenum cofactor deficiency type A
def: "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9731530 "DO"]
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" EXACT []
synonym: "MOCODA" EXACT []
synonym: "MOCOD type A" EXACT []
synonym: "MOCS1-RELATED CONDITION" EXACT []
synonym: "molybdenum cofactor deficiency, complementation group A" EXACT []
xref: MESH:C565372
xref: MIM:252150
xref: MONDO:0009643
xref: ORDO:308386
is_a: DOID:0111165 ! molybdenum cofactor deficiency

[Term]
id: DOID:0111165
name: molybdenum cofactor deficiency
alt_id: RDO:0001121
def: "A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. (DO)" [https://en.wikipedia.org/wiki/Molybdenum_cofactor_deficiency "DO", https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/10746556 "DO"]
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" EXACT []
synonym: "MOCOD" EXACT []
xref: GARD:3705
xref: MESH:C535811
xref: MIM:PS252150
xref: NCI:C129076
xref: ORDO:99732
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:0111166
name: molybdenum cofactor deficiency type C
def: "A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11095995 "DO"]
synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" EXACT []
synonym: "MOCODC" EXACT []
synonym: "MOCOD type C" EXACT []
synonym: "molybdenum cofactor deficiency complementation group C" EXACT []
synonym: "sulfite oxidase deficiency due to molybdenum cofactor deficiency type C" EXACT []
xref: MESH:C565374
xref: MIM:615501
xref: MONDO:0014212
xref: ORDO:308400
is_a: DOID:0111165 ! molybdenum cofactor deficiency

[Term]
id: DOID:0111167
name: Dyggve-Melchior-Clausen disease
alt_id: MIM:223800
alt_id: MIM:304950
def: "A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12491225 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21032395 "DO"]
synonym: "DMC" EXACT []
synonym: "DMC disease" EXACT []
synonym: "Dyggve-Melchior-Clausen syndrome" EXACT []
synonym: "Dyggve-Melchior-Clausen syndrome X linked" EXACT []
synonym: "DYM-RELATED CONDITION" BROAD []
synonym: "pseudo-Morquio disease type I" EXACT []
xref: GARD:6295
xref: MESH:C535726
xref: NCI:C124844
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0111168
name: sepiapterin reductase deficiency
alt_id: MIM:612716
alt_id: RDO:0012274
def: "A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. (DO)" [https://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/11443547 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15241655 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22522443 "DO"]
synonym: "dopa-responsive dystonia due to sepiapterin reductase deficiency" EXACT []
synonym: "DRD due to SRD" EXACT []
synonym: "SPR deficiency" EXACT []
synonym: "SRD" EXACT []
xref: GARD:10365
xref: MESH:C562657
xref: ORDO:70594
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:543 ! dystonia
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:0111169
name: subcortical band heterotopia
def: "A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. (DO)" [https://rarediseases.info.nih.gov/diseases/1904/subcortical-band-heterotopia "DO", https://www.ncbi.nlm.nih.gov/pubmed/24859200 "DO"]
synonym: "band heterotopia" EXACT []
synonym: "band heterotopia of brain" EXACT []
synonym: "BH" EXACT []
synonym: "DC syndrome" EXACT []
synonym: "double cortex" EXACT []
synonym: "double cortex syndrome" EXACT []
synonym: "HeCo" EXACT []
synonym: "heterotopic cortex" EXACT []
synonym: "subcortical laminar heterotopia" EXACT []
xref: MESH:C538475
xref: MESH:C563950
xref: MIM:600348
xref: MONDO:0020491
xref: NCI:C116933
xref: ORDO:99796
is_a: DOID:9008500 ! Classical Lissencephalies and Subcortical Band Heterotopias

[Term]
id: DOID:0111170
name: autosomal dominant sensory ataxia 1
def: "A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15286160 "DO"]
synonym: "ADSA" EXACT []
synonym: "SNAX1" EXACT []
xref: MIM:608984
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050951 ! hereditary ataxia

[Term]
id: DOID:0111180
name: French Canadian Leigh disease
alt_id: MIM:220111
def: "A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12529507 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21266382 "DO"]
synonym: "Cox deficiency, French Canadian type" EXACT []
synonym: "COX deficiency, Saguenay Lac Saint Jean type" EXACT []
synonym: "cytochrome c oxidase deficiency, French Canadian type" EXACT []
synonym: "Leigh syndrome, French Canadian type" EXACT []
synonym: "Leigh syndrome, Saguenay Lac Saint Jean type" EXACT []
synonym: "LSFC" EXACT []
synonym: "MC4DN5" EXACT []
synonym: "mitochondrial complex IV deficiency nuclear type 5" EXACT []
synonym: "mitochondrial complex IV deficiency nuclear type 5 (French-Canadian)" EXACT []
xref: GARD:8370
xref: MESH:C537004
xref: ORDO:70472
is_a: DOID:3652 ! Leigh disease

[Term]
id: DOID:0111181
name: familial hemiplegic migraine 1
alt_id: MIM:141500
def: "A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1388/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/8898206 "DO"]
synonym: "familial hemiplegic migraine 1 with progressive cerebellar ataxia" EXACT []
synonym: "familial hemiplegic migraine1 with progressive cerebellar ataxia" EXACT []
synonym: "Familial Hemiplegic Migraine, Type 1" EXACT []
synonym: "FHM" EXACT []
synonym: "FHM1" EXACT []
synonym: "MHP1" EXACT []
synonym: "sporadic hemiplegic migraine" RELATED []
synonym: "sporadic hemiplegic migraine with progressive cerebellar ataxia" RELATED []
xref: GARD:2638
xref: MESH:C536890
xref: NCI:C189277
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:0060178 ! familial hemiplegic migraine

[Term]
id: DOID:0111182
name: familial hemiplegic migraine 2
alt_id: MIM:602481
def: "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12539047 "DO"]
synonym: "Familial Hemiplegic Migraine, Type 2" EXACT []
synonym: "FHM2" EXACT []
synonym: "MHP2" EXACT []
synonym: "MHP2 MIGRAINE, FAMILIAL BASILAR" NARROW []
xref: GARD:10095
xref: MESH:C537246
is_a: DOID:0060178 ! familial hemiplegic migraine

[Term]
id: DOID:0111183
name: familial hemiplegic migraine 3
def: "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16054936 "DO"]
synonym: "familial hemiplegic migraine, type 3" EXACT []
synonym: "FHM3" EXACT []
synonym: "MHP3" EXACT []
xref: GARD:10974
xref: MESH:C566500
xref: MIM:609634
xref: MONDO:0012320
is_a: DOID:0060178 ! familial hemiplegic migraine

[Term]
id: DOID:0111184
name: myopathy, lactic acidosis, and sideroblastic anemia 3
def: "A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25037980 "DO"]
synonym: "mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 3" EXACT []
synonym: "MLASA3" EXACT []
xref: MIM:500011
is_a: DOID:0080099 ! myopathy, lactic acidosis, and sideroblastic anemia

[Term]
id: DOID:0111185
name: myopathy, lactic acidosis, and sideroblastic anemia 1
def: "A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15108122 "DO"]
synonym: "MLASA1" EXACT []
synonym: "PUS1-RELATED CONDITION" EXACT []
xref: MIM:600462
is_a: DOID:0080099 ! myopathy, lactic acidosis, and sideroblastic anemia

[Term]
id: DOID:0111186
name: myopathy, lactic acidosis, and sideroblastic anemia 2
def: "A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20598274 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24344687 "DO"]
synonym: "MLASA2" EXACT []
xref: MIM:613561
is_a: DOID:0080099 ! myopathy, lactic acidosis, and sideroblastic anemia

[Term]
id: DOID:0111187
name: distal myopathy with anterior tibial onset
alt_id: MIM:606768
def: "A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11198284 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9731526 "DO"]
synonym: "distal muscular dystrophy with anterior tibial onset" EXACT []
synonym: "DMAT" EXACT []
xref: MESH:C564664
xref: ORDO:178400
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11720 ! distal myopathy

[Term]
id: DOID:0111188
name: myofibrillar myopathy 9
alt_id: MESH:C564377
alt_id: MESH:C566343
def: "A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15802564 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23486992 "DO"]
synonym: "distal myopathy with early respiratory failure, autosomal dominant" EXACT []
synonym: "Edstrom Myopathy" EXACT []
synonym: "hereditary inclusion body myopathy with early respiratory failure" EXACT []
synonym: "Hereditary Myopathy with Early Respiratory Failure" EXACT []
synonym: "HIBM-ERF" EXACT []
synonym: "HMERF" EXACT []
synonym: "MFM9" EXACT []
synonym: "MFM-titinopathy" EXACT []
synonym: "MPRM" EXACT []
synonym: "Myofibrillar Myopathy 9 with Early Respiratory Failure" EXACT []
synonym: "myofibrillar myopathy-titinopathy" EXACT []
synonym: "proximal myopathy with early respiratory muscle involvement" EXACT []
xref: EFO:0010828
xref: GARD:12591
xref: MIM:603689
xref: ORDO:178464
is_a: DOID:0080307 ! myofibrillar myopathy
is_a: DOID:11162 ! respiratory failure
is_a: DOID:11720 ! distal myopathy

[Term]
id: DOID:0111189
name: distal myopathy 3
alt_id: MIM:610099
def: "A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34722876/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/12847162 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15036327 "DO"]
synonym: "distal muscular dystrophy 3" EXACT []
synonym: "distal myopathy type 3" EXACT []
synonym: "MPD3" EXACT []
xref: MESH:C566445
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11720 ! distal myopathy

[Term]
id: DOID:0111190
name: distal myopathy 4
def: "A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21620354 "DO"]
synonym: "distal ABD-filaminopathy" EXACT []
synonym: "distal muscular dystrophy 4" EXACT []
synonym: "distal myopathy with posterior leg and anterior hand involvement" EXACT []
synonym: "MPD4" EXACT []
synonym: "WILLIAMS DISTAL MYOPATHY" EXACT []
xref: MIM:614065
is_a: DOID:11720 ! distal myopathy

[Term]
id: DOID:0111191
name: distal myopathy Tateyama type
def: "A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11805270 "DO"]
synonym: "distal muscular dystrophy Tateyama type" EXACT []
synonym: "MPDT" EXACT []
xref: MIM:614321
xref: ORDO:488650
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11720 ! distal myopathy
is_a: DOID:422 ! congenital structural myopathy

[Term]
id: DOID:0111192
name: facioscapulohumeral muscular dystrophy 1
alt_id: MIM:158900
def: "A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1363881 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15154112 "DO"]
synonym: "FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES" NARROW []
synonym: "Facioscapulohumeral Muscular Dystrophy 1A" EXACT []
synonym: "Facioscapulohumeral muscular dystrophy, infantile" EXACT []
synonym: "facioscapulohumeral muscular dystrophy, type 1" EXACT []
synonym: "facioscapulohumeral muscular dystrophy, type 1a" EXACT []
synonym: "FSHD1" EXACT []
synonym: "FSHD1A" EXACT []
synonym: "FSHMD1A" EXACT []
xref: MESH:C536391
xref: NCI:C172704
is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy

[Term]
id: DOID:0111193
name: facioscapulohumeral muscular dystrophy 2
alt_id: MIM:158901
def: "A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20975055 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23143600 "DO"]
synonym: "facioscapulohumeral muscular dystrophy 1B" EXACT []
synonym: "facioscapulohumeral muscular dystrophy 2, digenic" EXACT []
synonym: "facioscapulohumeral muscular dystrophy, type 1B" EXACT []
synonym: "facioscapulohumeral muscular dystrophy, type 2" EXACT []
synonym: "FSHD1B" EXACT []
synonym: "FSHD2" EXACT []
synonym: "FSHD2, digenic" EXACT []
synonym: "FSHMD1B" EXACT []
synonym: "SMCHD1-RELATED CONDITION" BROAD []
synonym: "weakness of facial musculature" NARROW []
xref: MESH:C563557
xref: NCI:C172705
is_a: DOID:0080578 ! digenic disease
is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy

[Term]
id: DOID:0111194
name: autosomal dominant adult-onset proximal spinal muscular atrophy
alt_id: MIM:182980
def: "A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15372378 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7258225 "DO"]
synonym: "autosomal dominant adult-onset proximal SMA" EXACT []
synonym: "autosomal dominant late-onset spinal muscular atrophy, Finkel type" EXACT []
synonym: "Finkel disease" EXACT []
synonym: "Finkel Late-Adult Type SMA" EXACT []
synonym: "SMAFK" EXACT []
synonym: "SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE" EXACT []
synonym: "Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant" EXACT []
xref: MESH:C566673
xref: ORDO:209335
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:0111195
name: erythrokeratodermia variabilis et progressiva 1
alt_id: MIM:133200
def: "An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12019212 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9843209 "DO"]
synonym: "EKVP1" EXACT []
is_a: DOID:0050467 ! erythrokeratodermia variabilis
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0111196
name: X-linked distal spinal muscular atrophy 3
alt_id: MIM:300489
def: "A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14985388 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20170900 "DO"]
synonym: "ATP7A-related distal motor neuropathy" EXACT []
synonym: "DSMAX" EXACT []
synonym: "HMNX" EXACT []
synonym: "SMAX3" EXACT []
synonym: "X-linked dHMN3" EXACT []
synonym: "X-linked distal hereditary motor neuronopathy" EXACT []
synonym: "X-linked distal hereditary motor neuropathy type 3" EXACT []
synonym: "X-linked distal spinal muscular atrophy, recessive" EXACT []
synonym: "X-linked dSMA3" EXACT []
xref: MESH:C564506
xref: ORDO:139557
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:0111197
name: autosomal recessive distal hereditary motor neuronopathy
def: "A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15358725 "DO"]
synonym: "autosomal recessive distal spinal muscular atrophy" EXACT []
xref: MIM:PS604320
xref: ORDO:140468
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:0111198
name: autosomal dominant distal hereditary motor neuronopathy
def: "A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15358725 "DO"]
synonym: "autosomal dominant dHMN" EXACT []
synonym: "autosomal dominant distal hereditary motor neuropathy" EXACT []
synonym: "autosomal dominant distal spinal muscular atrophy" EXACT []
xref: MIM:PS182960
xref: ORDO:140465
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:0111199
name: autosomal dominant distal hereditary motor neuronopathy 7
alt_id: DOID:0111201
def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23141292 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7420092 "DO"]
synonym: "dHMN7" EXACT []
synonym: "DHMN7A" EXACT []
synonym: "DHMNVP" EXACT []
synonym: "DHMNVPy" EXACT []
synonym: "distal hereditary motor neuronopathy, autosomal dominant 7" EXACT []
synonym: "distal hereditary motor neuronopathy, Harding type VIIA" EXACT []
synonym: "distal hereditary motor neuronopathy type 7" EXACT []
synonym: "distal hereditary motor neuronopathy type 7A" EXACT []
synonym: "distal hereditary motor neuronopathy type VIIA" EXACT []
synonym: "distal hereditary motor neuropathy, Harding type VIIA" EXACT []
synonym: "distal hereditary motor neuropathy type VIIA" EXACT []
synonym: "distal spinal muscular atrophy with vocal cord paralysis" EXACT []
synonym: "distal spinal muscular atrophy with vocal cord paralysis type 7A" EXACT []
synonym: "Harper-Young myopath" EXACT []
synonym: "Harper-Young myopathy" EXACT []
synonym: "HMN7A" EXACT []
synonym: "HMND7" EXACT []
synonym: "HMN VIIA" EXACT []
xref: MESH:C563562
xref: MIM:158580
xref: MONDO:0008024
xref: ORDO:139589
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy
is_a: DOID:2477 ! motor peripheral neuropathy
is_a: DOID:9000586 ! Vocal Cord Paralysis

[Term]
id: DOID:0111200
name: autosomal dominant distal hereditary motor neuronopathy 1
alt_id: MIM:182960
def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17354000 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7365507 "DO"]
synonym: "autosomal dominant distal juvenile spinal muscular atrophy type 1" EXACT []
synonym: "dHMN1" EXACT []
synonym: "distal hereditary motor neuronopathy type 1" EXACT []
synonym: "distal hereditary motor neuropathy, type 1" EXACT []
synonym: "distal hereditary motor neuropathy, type I" EXACT []
synonym: "distal spinal muscular atrophy, juvenile, autosomal dominant, I" EXACT []
synonym: "HMN1" EXACT []
synonym: "HMND1" EXACT []
synonym: "HMN I" EXACT []
synonym: "spinal Charcot-Marie-Tooth disease 1" EXACT []
synonym: "spinal Charcot-Marie-Tooth disease I" EXACT []
xref: MESH:C566675
xref: MONDO:0008451
xref: NCI:C132826
xref: ORDO:139518
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy
is_a: DOID:10595 ! Charcot-Marie-Tooth disease

[Term]
id: DOID:0111202
name: autosomal dominant distal hereditary motor neuronopathy 14
alt_id: MIM:607641
def: "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12627231 "DO"]
synonym: "DHMN7B" EXACT []
synonym: "distal hereditary motor neuronopathy, Harding type VIIB" EXACT []
synonym: "distal hereditary motor neuronopathy type 7B" EXACT []
synonym: "distal hereditary motor neuronopathy, type VIIB" EXACT []
synonym: "distal hereditary motor neuropathy, Harding type VIIB" EXACT []
synonym: "distal hereditary motor neuropathy type VIIB" EXACT []
synonym: "distal hereditary motor neuropathy with vocal cord paralysis, Harding type VIIB" EXACT []
synonym: "distal hereditary motor neuropathy with vocal cord paralysis, type VIIB" EXACT []
synonym: "distal spinal muscular atrophy with vocal cord paralysis type 7B" EXACT []
synonym: "GENETIC MOTOR NEURON DISEASE" BROAD []
synonym: "HMN7B" EXACT []
synonym: "HMND14" EXACT []
synonym: "HMN VIIB" EXACT []
synonym: "Lower Motor Neuron Disease, Dynactin Type" EXACT []
xref: MESH:C564362
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy

[Term]
id: DOID:0111203
name: autosomal dominant distal hereditary motor neuronopathy 5
alt_id: DOID:0111204
alt_id: MIM:600794
def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12690580 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22703882 "DO"]
synonym: "DHMN5" EXACT []
synonym: "DHMN5A" EXACT []
synonym: "Dhmn-V" EXACT []
synonym: "DHMN VA" EXACT []
synonym: "distal hereditary motor neuronopathy, Harding type VA" EXACT []
synonym: "distal hereditary motor neuronopathy type 5" EXACT []
synonym: "distal hereditary motor neuronopathy type 5A" EXACT []
synonym: "Distal Hereditary Motor Neuronopathy, Type V" EXACT []
synonym: "distal hereditary motor neuronopathy type VA" EXACT []
synonym: "distal hereditary motor neuropathy, Harding type VA" EXACT []
synonym: "Distal Hereditary Motor Neuropathy, Type V" EXACT []
synonym: "distal hereditary motor neuropathy, type VA" EXACT []
synonym: "distal HMN V" EXACT []
synonym: "distal HMN VA" EXACT []
synonym: "distal spinal muscular atrophy, Harding type V" EXACT []
synonym: "Distal Spinal Muscular Atrophy, Type V" EXACT []
synonym: "distal spinal muscular atrophy, type VA" EXACT []
synonym: "distal spinal muscular atrophy, with upper limb predominance" EXACT []
synonym: "DSMAV" EXACT []
synonym: "DSMAVA" EXACT []
synonym: "HMN5" EXACT []
synonym: "HMN 5A" EXACT []
synonym: "HMN5A" EXACT []
synonym: "HMND5" EXACT []
synonym: "HMN V" EXACT []
synonym: "HMN VA" EXACT []
xref: MESH:C563443
xref: ORDO:139536
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy

[Term]
id: DOID:0111205
name: autosomal dominant distal hereditary motor neuronopathy 12
def: "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22703882 "DO"]
synonym: "DHMN5B" EXACT []
synonym: "DHMN VB" EXACT []
synonym: "distal hereditary motor neuronopathy, Harding type VB" EXACT []
synonym: "distal hereditary motor neuronopathy type 5B" EXACT []
synonym: "distal hereditary motor neuronopathy type VB" EXACT []
synonym: "distal hereditary motor neuropathy, Harding type VB" EXACT []
synonym: "distal hereditary motor neuropathy, type VB" EXACT []
synonym: "distal HMN VB" EXACT []
synonym: "distal spinal muscular atrophy, Harding type VB" EXACT []
synonym: "distal spinal muscular atrophy, type VB" EXACT []
synonym: "DSMAVB" EXACT []
synonym: "HMN5B" EXACT []
synonym: "HMND12" EXACT []
synonym: "HMN VB" EXACT []
xref: MIM:614751
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy

[Term]
id: DOID:0111206
name: autosomal dominant distal hereditary motor neuronopathy 2
alt_id: DOID:0111208
alt_id: MIM:158590
def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15122253 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1517763 "DO"]
synonym: "autosomal dominant adult spinal muscular atrophy IIA" EXACT []
synonym: "Charcot-Marie-Tooth Disease, Spinal, IIA" EXACT []
synonym: "DHMN2A" EXACT []
synonym: "distal hereditary motor neuronopathy, autosomal dominant 2" EXACT []
synonym: "distal hereditary motor neuronopathy type 2" EXACT []
synonym: "distal hereditary motor neuronopathy type 2A" EXACT []
synonym: "distal hereditary motor neuronopathy, type IIA" EXACT []
synonym: "DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2" EXACT []
synonym: "distal hereditary motor neuropathy type II" EXACT []
synonym: "distal hereditary motor neuropathy type IIA" EXACT []
synonym: "distal spinal muscular atrophy, adult autosomal dominant, IIA" EXACT []
synonym: "HMN2" EXACT []
synonym: "HMN2A" EXACT []
synonym: "HMND2" EXACT []
synonym: "HMN II" EXACT []
synonym: "HMN IIA" EXACT []
xref: MESH:C563561
xref: ORDO:139525
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy

[Term]
id: DOID:0111207
name: autosomal dominant distal hereditary motor neuronopathy 3
alt_id: MIM:608634
def: "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18832141 "DO"]
synonym: "DHMN2B" EXACT []
synonym: "distal hereditary motor neuronopathy, Harding type IIB" EXACT []
synonym: "distal hereditary motor neuronopathy type 2B" EXACT []
synonym: "distal hereditary motor neuropathy, Harding type IIB" EXACT []
synonym: "distal hereditary motor neuropathy type 2B" EXACT []
synonym: "distal hereditary motor neuropathy, type IIB" EXACT []
synonym: "HMN2B" EXACT []
synonym: "HMND3" EXACT []
synonym: "HMN IIB" EXACT []
synonym: "HSPB1-related disorder" BROAD []
xref: MESH:C567084
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy

[Term]
id: DOID:0111209
name: autosomal dominant distal hereditary motor neuronopathy 4
def: "A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20142617 "DO"]
synonym: "DHMN2C" EXACT []
synonym: "distal hereditary motor neuronopathy, Harding type IIC" EXACT []
synonym: "distal hereditary motor neuronopathy type 2C" EXACT []
synonym: "distal hereditary motor neuronopathy, type IIC" EXACT []
synonym: "distal hereditary motor neuropathy, autosomal dominant 4" EXACT []
synonym: "distal hereditary motor neuropathy, Harding type IIC" EXACT []
synonym: "distal hereditary motor neuropathy, type IIC" EXACT []
synonym: "HMN2C" EXACT []
synonym: "HMND4" EXACT []
synonym: "HMN IIC" EXACT []
xref: MIM:613376
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy

[Term]
id: DOID:0111210
name: autosomal dominant distal hereditary motor neuronopathy 6
def: "A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24207122 "DO"]
synonym: "DHMN2D" EXACT []
synonym: "DISTAL HEREDITARY MOTOR NEURONOPATHY 2D" EXACT []
synonym: "distal hereditary motor neuronopathy, Harding type IID" EXACT []
synonym: "distal hereditary motor neuronopathy type 2D" EXACT []
synonym: "distal hereditary motor neuropathy, Harding type IID" EXACT []
synonym: "distal hereditary motor neuropathy type IID" EXACT []
synonym: "distal spinal muscular atrophy, autosomal dominant, calf-predominant" EXACT []
synonym: "distal spinal muscular atrophy with calf predominance" EXACT []
synonym: "FBXO38-RELATED CONDITION" EXACT []
synonym: "HMN2D" EXACT []
synonym: "HMND6" EXACT []
synonym: "HMN IID" EXACT []
xref: MIM:615575
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy

[Term]
id: DOID:0111211
name: autosomal recessive distal hereditary motor neuronopathy 3
def: "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15054395 "DO"]
synonym: "autosomal recessive distal spinal muscular atrophy 3" EXACT []
synonym: "autosomal recessive distal spinal muscular atrophy type 3" EXACT []
synonym: "DHMN3" EXACT []
synonym: "dHMN3 and dHMN4" EXACT []
synonym: "DHMN4" EXACT []
synonym: "distal hereditary motor neuropathy type 3" EXACT []
synonym: "distal hereditary motor neuropathy type 3 and type 4" EXACT []
synonym: "distal hereditary motor neuropathy type 4" EXACT []
synonym: "distal hereditary motor neuropathy, type IV" EXACT []
synonym: "distal spinal muscular atrophy type 3" EXACT []
synonym: "DSMA3" EXACT []
synonym: "HMN3" EXACT []
synonym: "HMN4" EXACT []
synonym: "HMN III" EXACT []
synonym: "HMN IV" EXACT []
synonym: "HMNR3" EXACT []
synonym: "Neuronopathy, Distal Hereditary Motor, Harding Type III" EXACT []
synonym: "Neuronopathy, Distal Hereditary Motor, Harding Type IV" EXACT []
synonym: "Neuronopathy, Distal Hereditary Motor, Type III" EXACT []
synonym: "Neuronopathy, Distal Hereditary Motor, Type IV" EXACT []
xref: MESH:C564626
xref: MIM:607088
xref: MONDO:0011771
xref: ORDO:139547
is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy

[Term]
id: DOID:0111212
name: autosomal dominant distal hereditary motor neuronopathy 9
def: "An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28369220 "DO"]
synonym: "DHMN9" EXACT []
synonym: "distal hereditary motor neuronopathy type 9" EXACT []
synonym: "distal hereditary motor neuronopathy type IX" EXACT []
synonym: "distal hereditary motor neuropathy type IX" EXACT []
synonym: "HMN9" EXACT []
synonym: "HMND9" EXACT []
xref: MIM:617721
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy

[Term]
id: DOID:0111213
name: autosomal recessive distal hereditary motor neuronopathy 4
alt_id: MIM:611067
def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16728649 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17564964 "DO"]
synonym: "autosomal recessive distal spinal muscular atrophy 4" EXACT []
synonym: "autosomal recessive distal spinal muscular atrophy type 4" EXACT []
synonym: "autosomal recessive lower motor neuron disease with childhood onset" EXACT []
synonym: "distal hereditary motor neuropathy, autosomal recessive 4" EXACT []
synonym: "distal spinal muscular atrophy type 4" EXACT []
synonym: "DSMA4" EXACT []
synonym: "GENETIC MOTOR NEURON DISEASE" BROAD []
synonym: "HMNR4" EXACT []
synonym: "PLEKHG5-RELATED CONDITION" BROAD []
xref: MESH:C567023
xref: ORDO:206580
is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy

[Term]
id: DOID:0111214
name: autosomal recessive distal hereditary motor neuronopathy 5
def: "An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22522442 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25274842 "DO"]
synonym: "autosomal recessive distal hereditary motor neuropathy 5" EXACT []
synonym: "autosomal recessive distal spinal muscular atrophy 5" EXACT []
synonym: "autosomal recessive distal spinal muscular atrophy type 5" EXACT []
synonym: "distal spinal muscular atrophy type 5" EXACT []
synonym: "DSMA5" EXACT []
synonym: "HMNR5" EXACT []
synonym: "young adult-onset dHMN" EXACT []
synonym: "young adult-onset distal hereditary motor neuropathy" EXACT []
xref: MIM:614881
xref: ORDO:314485
is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy

[Term]
id: DOID:0111215
name: autosomal dominant distal hereditary motor neuronopathy 8
alt_id: MIM:600175
def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20037588 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21336783 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4056805 "DO"]
synonym: "autosomal dominant benign distal spinal muscular atrophy" EXACT []
synonym: "autosomal dominant congenital benign spinal muscular atrophy" EXACT []
synonym: "congenital benign spinal muscular atrophy with contractures" EXACT []
synonym: "congenital nonprogressive distal spinal muscular atrophy" EXACT []
synonym: "congenital nonprogressive spinal muscular atrophy" EXACT []
synonym: "DHMN8" EXACT []
synonym: "distal hereditary motor neuronopathy type 8" EXACT []
synonym: "distal hereditary motor neuronopathy, type VIII" EXACT []
synonym: "distal hereditary motor neuropathy, type VIII" EXACT []
synonym: "HMN8" EXACT []
synonym: "HMND8" EXACT []
xref: MESH:C563981
is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy

[Term]
id: DOID:0111216
name: autosomal recessive centronuclear myopathy
def: "A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30103348 "DO"]
synonym: "AR-CNM" EXACT []
synonym: "centronuclear myopathy, recessive" EXACT []
synonym: "myotubular myopathy, autosomal recessive" EXACT []
xref: GARD:12718
xref: MESH:C562934
xref: MONDO:0015705
xref: OMIA:001660
xref: ORDO:169186
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14717 ! centronuclear myopathy
is_a: DOID:422 ! congenital structural myopathy

[Term]
id: DOID:0111217
name: autosomal dominant centronuclear myopathy
def: "A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30103348 "DO"]
synonym: "AD-CNM" EXACT []
synonym: "MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF" RELATED []
xref: GARD:12719
xref: ICD10CM:G71.228
xref: ORDO:169189
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14717 ! centronuclear myopathy

[Term]
id: DOID:0111218
name: Friedreich ataxia 1
alt_id: MIM:229300
def: "A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10500204 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10543403 "DO"]
synonym: "FA1" EXACT []
synonym: "FARR" NARROW []
synonym: "FRDA" EXACT []
synonym: "FRDA1" EXACT []
synonym: "Friedreich ataxia with retained reflexes" NARROW []
synonym: "FXN-related disorder" EXACT []
xref: MESH:C565561
is_a: DOID:12705 ! Friedreich ataxia

[Term]
id: DOID:0111219
name: Friedreich ataxia 2
alt_id: MIM:601992
def: "A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11523563 "DO"]
synonym: "FRDA2" EXACT []
xref: MESH:C566594
is_a: DOID:12705 ! Friedreich ataxia

[Term]
id: DOID:0111220
name: centronuclear myopathy 2
def: "An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17676042 "DO"]
synonym: "autosomal recessive centronuclear myopathy 2" EXACT []
synonym: "CNM2" EXACT []
xref: MIM:255200
is_a: DOID:0111216 ! autosomal recessive centronuclear myopathy
is_a: DOID:422 ! congenital structural myopathy

[Term]
id: DOID:0111221
name: centronuclear myopathy 6 with fiber-type disproportion
def: "An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27816943 "DO"]
synonym: "CNM6" EXACT []
xref: MIM:617760
is_a: DOID:0111216 ! autosomal recessive centronuclear myopathy

[Term]
id: DOID:0111222
name: centronuclear myopathy 5
def: "An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25087613 "DO"]
synonym: "CNM5" EXACT []
synonym: "SPEG-RELATED CONDITION" EXACT []
synonym: "SPEG-RELATED CONGENITAL MYOPATHY" EXACT []
xref: MIM:615959
xref: MONDO:0014418
is_a: DOID:0111216 ! autosomal recessive centronuclear myopathy

[Term]
id: DOID:0111223
name: centronuclear myopathy 1
def: "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16227997 "DO"]
synonym: "centronuclear myopathy 3" RELATED []
synonym: "centronuclear myopathy, dominant" EXACT []
synonym: "CNM1" EXACT []
synonym: "CNM3" RELATED []
xref: MIM:160150
xref: NCI:C126689
is_a: DOID:0111217 ! autosomal dominant centronuclear myopathy
is_a: DOID:422 ! congenital structural myopathy

[Term]
id: DOID:0111224
name: centronuclear myopathy 4
def: "An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22818856 "DO"]
synonym: "CNM4" EXACT []
xref: MIM:614807
is_a: DOID:0111217 ! autosomal dominant centronuclear myopathy
is_a: DOID:422 ! congenital structural myopathy

[Term]
id: DOID:0111225
name: centronuclear myopathy X-linked
alt_id: OMIA:001508
def: "A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8640223 "DO"]
synonym: "CNMX" EXACT []
synonym: "MTMX" EXACT []
synonym: "SEVERE X-LINKED MYOTUBULAR MYOPATHY" NARROW []
synonym: "XLCNM" EXACT []
synonym: "X-linked myotubular myopathies" EXACT []
synonym: "X-linked myotubular myopathy" EXACT []
synonym: "XLMTM" EXACT []
xref: GARD:11925
xref: ICD10CM:G71.220
xref: MIM:310400
xref: NCI:C118781
is_a: DOID:14717 ! centronuclear myopathy
is_a: DOID:422 ! congenital structural myopathy

[Term]
id: DOID:0111226
name: X-linked congenital myopathy with fiber-type disproportion
alt_id: MIM:300580
def: "A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16173074 "DO"]
synonym: "CFTDX" EXACT []
xref: MESH:C567594
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0080102 ! congenital myopathy 4A
is_a: DOID:422 ! congenital structural myopathy

[Term]
id: DOID:0111227
name: frontotemporal dementia and/or amyotrophic lateral sclerosis 7
alt_id: DOID:0060208
def: "A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2. (DO)" [https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia/#resources "DO", https://www.ncbi.nlm.nih.gov/books/NBK1199/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/16041373 "DO"]
synonym: "ALS17" EXACT []
synonym: "ALS17 (FORMERLY)" EXACT []
synonym: "amyotrophic lateral sclerosis 17" EXACT []
synonym: "AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY)" EXACT []
synonym: "amyotrophic lateral sclerosis type 17" EXACT []
synonym: "CHMP2B-RELATED" EXACT []
synonym: "CHMP2B-related amyotrophic lateral sclerosis" EXACT []
synonym: "CHMP2B-related condition" BROAD []
synonym: "CHMP2B-related frontotemporal dementia" EXACT []
synonym: "chromosome 3-linked frontotemporal dementia" EXACT []
synonym: "DEM" EXACT []
synonym: "DMT1" EXACT []
synonym: "DTM1" EXACT []
synonym: "familial nonspecific dementia" EXACT []
synonym: "FTD-3" EXACT []
synonym: "FTD3" EXACT []
synonym: "FTDALS7" EXACT []
synonym: "FTD-CHMP2B" EXACT []
xref: MESH:C563708
xref: MESH:C579991
xref: MIM:600795
xref: MIM:614696
is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis

[Term]
id: DOID:0111228
name: Sveinsson chorioretinal atrophy
def: "An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15016762 "DO", https://www.ncbi.nlm.nih.gov/pubmed/419979 "DO"]
synonym: "AA" EXACT []
synonym: "atrophia areata" EXACT []
synonym: "helicoidal peripapillary chorioretinal degeneration" EXACT []
synonym: "helicoid peripapillary chorioretinal degeneration" EXACT []
synonym: "HPCD" EXACT []
synonym: "peripapillary chorioretinal degeneration, Icelandic type" EXACT []
synonym: "SCRA" EXACT []
synonym: "Sveinsson choreoretinal atrophy" RELATED []
xref: MESH:C566236
xref: MIM:108985
xref: MONDO:0007176
xref: ORDO:86813
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:0111229
name: congenital muscular dystrophy-dystroglycanopathy type A
def: "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23453667 "DO"]
synonym: "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies" EXACT []
synonym: "klissencephaly type 2 with muscular and ocular involvement" EXACT []
synonym: "MDDGA" EXACT []
xref: MIM:PS236670
xref: ORDO:352687
is_a: DOID:0050560 ! Walker-Warburg syndrome
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy

[Term]
id: DOID:0111230
name: congenital muscular dystrophy-dystroglycanopathy type A11
def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23453667 "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11" EXACT []
synonym: "MDDGA11" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11" EXACT []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related" EXACT []
xref: MIM:615181
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0111231
name: congenital muscular dystrophy-dystroglycanopathy type A8
alt_id: RDO:9000583
def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22958903 "DO"]
synonym: "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8" EXACT []
synonym: "MDDGA8" EXACT []
synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 8" EXACT []
synonym: "WALKER-WARBURG SYNDROME, GTDC2-RELATED" EXACT []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related" EXACT []
xref: MIM:614830
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0111232
name: congenital muscular dystrophy-dystroglycanopathy type A9
alt_id: RDO:9001467
def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24052401 "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9" EXACT []
synonym: "MDDGA9" EXACT []
synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), type A, 9" EXACT []
synonym: "WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED" EXACT []
xref: MIM:616538
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0111233
name: congenital muscular dystrophy-dystroglycanopathy A14
def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23768512 "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14" EXACT []
synonym: "MDDGA14" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Type A, 14" EXACT []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related" EXACT []
xref: MIM:615350
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0111234
name: congenital muscular dystrophy-dystroglycanopathy A7
def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22522420 "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7" EXACT []
synonym: "ISPD-related disorder" BROAD []
synonym: "MDDGA7" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7" EXACT []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related" EXACT []
xref: MIM:614643
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0111235
name: congenital muscular dystrophy-dystroglycanopathy type A12
def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23519211 "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12" EXACT []
synonym: "MDDGA12" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12" EXACT []
synonym: "WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED" EXACT []
xref: MIM:615249
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0111236
name: congenital muscular dystrophy-dystroglycanopathy type A3
def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11709191 "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3" EXACT []
synonym: "MDDGA3" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3" EXACT []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related" EXACT []
xref: MIM:253280
xref: MONDO:0009667
xref: NCI:C126740
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0111237
name: congenital muscular dystrophy-dystroglycanopathy type A1
def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12369018 "DO"]
synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" EXACT []
synonym: "COD MD syndrome" EXACT []
synonym: "COD-MD syndromes" EXACT []
synonym: "congenital muscular dystrophy dystroglycanopathy with brain and eye anomalies, type A1" EXACT []
synonym: "HARD syndrome" EXACT []
synonym: "HARD syndromes" EXACT []
synonym: "hydrocephalus, agyria, and retinal dysplasia" EXACT []
synonym: "MDDGA1" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1" EXACT []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related" EXACT []
xref: MIM:236670
xref: NCI:C128118
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0111238
name: congenital muscular dystrophy-dystroglycanopathy type A13
alt_id: RDO:9000895
def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23359570 "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13" EXACT []
synonym: "MDDGA13" EXACT []
synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 13" EXACT []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related" EXACT []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B4GAT1-related" EXACT []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related" EXACT []
xref: MIM:615287
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0111239
name: congenital muscular dystrophy-dystroglycanopathy type A10
alt_id: RDO:9000580
def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23217329 "DO"]
synonym: "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10" EXACT []
synonym: "MDDGA10" EXACT []
synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 10" EXACT []
xref: MIM:615041
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0111240
name: congenital muscular dystrophy-dystroglycanopathy type A2
def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15894594 "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2" EXACT []
synonym: "MDDGA2" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2" EXACT []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related" EXACT []
xref: MIM:613150
xref: NCI:C126742
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0111241
name: congenital muscular dystrophy-dystroglycanopathy type A5
def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15121789 "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5" EXACT []
synonym: "MDDGA5" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5" EXACT []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related" EXACT []
xref: MIM:613153
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0111242
name: congenital muscular dystrophy-dystroglycanopathy type A6
def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17436019 "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6" EXACT []
synonym: "MDDGA6" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6" EXACT []
synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related" EXACT []
xref: MIM:613154
xref: NCI:C126743
is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A

[Term]
id: DOID:0111243
name: acromicric dysplasia
alt_id: MIM:102370
def: "An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21683322 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3728563 "DO"]
synonym: "ACMICD" EXACT []
synonym: "acromicric skeletal dysplasia" EXACT []
synonym: "geleophysic dwarfism" EXACT []
xref: GARD:7
xref: MESH:C535662
xref: ORDO:969
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:0111244
name: palmoplantar keratoderma and congenital alopecia 1
def: "An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20635335 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25168385 "DO"]
synonym: "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" EXACT []
synonym: "autosomal dominant palmoplantar keratoderma and congenital alopecia" EXACT []
synonym: "keratoderma-hypotrichosis-leukonychia totalis syndrome" EXACT []
synonym: "palmoplantar keratoderma and congenital alopecia, Stevanovic type" EXACT []
synonym: "PPKCA1" EXACT []
synonym: "PPK-CA, Stevanovic type" EXACT []
synonym: "PPKCA, Stevanovic type" EXACT []
xref: GARD:604
xref: MIM:104100
xref: ORDO:1010
is_a: DOID:0080015 ! physical disorder
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9007076 ! Alopecia Congenita Keratosis Palmoplantaris

[Term]
id: DOID:0111245
name: palmoplantar keratoderma and congenital alopecia 2
alt_id: MIM:212360
def: "An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20635335 "DO"]
synonym: "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia" EXACT []
synonym: "autosomal recessive palmoplantar keratoderma and congenital alopecia" EXACT []
synonym: "CASS" EXACT []
synonym: "cataract, alopecia, sclerodactyly" EXACT []
synonym: "cataract-alopecia-sclerodactyly syndrome" EXACT []
synonym: "palmoplantar keratoderma and congenital alopecia, Wallis type" EXACT []
synonym: "PPKCA2" EXACT []
synonym: "PPK-CA, Wallis type" EXACT []
synonym: "PPKCA Wallis type" EXACT []
xref: MESH:C535336
xref: ORDO:1366
is_a: DOID:0080015 ! physical disorder
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:83 ! cataract
is_a: DOID:8472 ! localized scleroderma
is_a: DOID:987 ! alopecia

[Term]
id: DOID:0111246
name: amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
def: "A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16051700 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5770171 "DO"]
synonym: "ALS-PDC" EXACT []
synonym: "amyotrophic lateral sclerosis, Guam form" EXACT []
synonym: "amyotrophic lateral sclerosis, parkinsonism, dementia complex of Guam" EXACT []
synonym: "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome" EXACT []
synonym: "Guam disease" EXACT []
synonym: "Guam form of amyotrophic lateral sclerosis" EXACT []
synonym: "Guam PD" EXACT []
synonym: "Lytico-Bodig disease" EXACT []
synonym: "parkinsonism-dementia-ALS complex" EXACT []
synonym: "parkinsonism-dementia of Guam" EXACT []
synonym: "PDALS" EXACT []
xref: GARD:9239
xref: MIM:105500
xref: ORDO:90020
is_a: DOID:1307 ! dementia
is_a: DOID:14330 ! Parkinson's disease
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:0111247
name: hypertension and brachydactyly syndrome
alt_id: MIM:112410
def: "A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25961942 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4774535 "DO"]
synonym: "Bilginturan brachydactyly" EXACT []
synonym: "Bilginturan syndrome" EXACT []
synonym: "brachydactyly type E with short stature and hypertension" EXACT []
synonym: "brachydactyly with hypertension" EXACT []
synonym: "HTNB" EXACT []
xref: GARD:967
xref: MESH:C537095
xref: ORDO:1276
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10763 ! hypertension
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0111248
name: cerebrocostomandibular syndrome
alt_id: MIM:117650
def: "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19008299 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25047197 "DO"]
synonym: "CCMS" EXACT []
synonym: "CCM syndrome" EXACT []
synonym: "cerebrocostomandibular-like syndrome" EXACT []
synonym: "cerebro-costo-mandibular syndrome" EXACT []
synonym: "rib gap defects with micrognathia" EXACT []
xref: GARD:6026
xref: MESH:C562538
xref: ORDO:1393
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9005616 ! Micrognathism

[Term]
id: DOID:0111249
name: uveal coloboma-cleft lip and palate-intellectual disability
alt_id: MESH:C535971
alt_id: MIM:120433
def: "A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24462371 "DO"]
synonym: "COB1" EXACT []
synonym: "coloboma, cleft lip/palate and mental retardation syndrome" EXACT []
synonym: "coloboma-microphthalmos syndrome" EXACT []
synonym: "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate" EXACT []
synonym: "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development" EXACT []
synonym: "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation" EXACT []
synonym: "uveal coloboma-cleft lip/palate-mental retardation syndrome" EXACT []
synonym: "uveal coloboma, with cleft lip and palate and mental retardation" EXACT []
synonym: "YAP1-RELATED CONDITION" EXACT []
xref: GARD:1440
xref: MESH:C565173
xref: ORDO:1473
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12270 ! coloboma
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:0111250
name: Parkinson's disease 3
alt_id: MESH:C566552
alt_id: MIM:602404
def: "A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14663042 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9500549 "DO"]
synonym: "PARK3" EXACT []
synonym: "Parkinson's disease 3, autosomal dominant" EXACT []
synonym: "Parkinson's disease 3, autosomal dominant Lewy body" EXACT []
synonym: "Parkinson disease 3" EXACT []
synonym: "Parkinson disease 3, autosomal dominant" EXACT []
synonym: "Parkinson disease 3, autosomal dominant Lewy body" EXACT []
xref: MESH:C537176
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060892 ! late onset Parkinson's disease

[Term]
id: DOID:0111251
name: Parkinson's disease 21
def: "A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24218364 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27270108 "DO"]
synonym: "PARK21" EXACT []
synonym: "Parkinson disease 21" EXACT []
synonym: "Parkinson disease type 21" EXACT []
xref: MIM:616361
xref: MONDO:0014604
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060892 ! late onset Parkinson's disease

[Term]
id: DOID:0111252
name: vestibular schwannomatosis
alt_id: MIM:101000
def: "A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35674741/ "DO"]
synonym: "ACN" EXACT []
synonym: "acoustic neurofibromatosis" EXACT []
synonym: "BANF" EXACT []
synonym: "Bilateral Acoustic Neurinoma" EXACT []
synonym: "bilateral acoustic neurinomas" EXACT []
synonym: "bilateral acoustic neurofibromatoses" EXACT []
synonym: "Bilateral Acoustic Neurofibromatosis" EXACT []
synonym: "bilateral acoustic neuroma" EXACT []
synonym: "Bilateral Acoustic Schwannoma" EXACT []
synonym: "bilateral acoustic schwannomas" EXACT []
synonym: "BILATERAL VESTIBULAR SCHWANNOMA" EXACT []
synonym: "central neurofibromatoses" EXACT []
synonym: "Central Neurofibromatosis" EXACT []
synonym: "Central NF2 Neurofibromatoses" EXACT []
synonym: "Central NF2 Neurofibromatosis" EXACT []
synonym: "Familial Acoustic Neuroma" EXACT []
synonym: "Familial Acoustic Neuromas" EXACT []
synonym: "neurofibromatosis 2" EXACT []
synonym: "Neurofibromatosis, Central, NF 2" EXACT []
synonym: "Neurofibromatosis, central type" EXACT []
synonym: "Neurofibromatosis II" EXACT []
synonym: "Neurofibromatosis Type 2" EXACT []
synonym: "neurofibromatosis type II" EXACT []
synonym: "NF2" EXACT []
synonym: "NF2 (neurofibromatosis 2)" EXACT []
synonym: "NF2-related schwannomatosis" EXACT []
synonym: "schwannomatosis 3" EXACT []
synonym: "SWN3" EXACT []
synonym: "SWNV" EXACT []
synonym: "type 2 neurofibromatoses" EXACT []
synonym: "type II neurofibromatoses" EXACT []
xref: EFO:0004122
xref: GARD:7193
xref: ICD10CM:Q85.02
xref: ICD9CM:237.72
xref: MESH:D016518
xref: MONDO:0007039
xref: NCI:C3274
xref: ORDO:637
is_a: DOID:12689 ! acoustic neuroma
is_a: DOID:3204 ! schwannomatosis

[Term]
id: DOID:0111253
name: neurofibromatosis 1
alt_id: MIM:162200
def: "A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34012067/ "DO", https://pubmed.ncbi.nlm.nih.gov/35698197/ "DO"]
synonym: "molluscum fibrosum" EXACT []
synonym: "neurofibromatoses type I" EXACT []
synonym: "neurofibromatosis I" EXACT []
synonym: "neurofibromatosis type 1" EXACT []
synonym: "neurofibromatosis type I" EXACT []
synonym: "NF1" EXACT []
synonym: "NF1 (neurofibromatosis 1)" EXACT []
synonym: "peripheral neurofibromatoses" EXACT []
synonym: "peripheral neurofibromatosis" EXACT []
synonym: "peripheral neurofibromatosis, NF 1" EXACT []
synonym: "peripheral neurofibromatosis, NF1" EXACT []
synonym: "peripheral type neurofibromatosis" EXACT []
synonym: "Recklinghausen's disease of nerve" EXACT []
synonym: "Recklinghausen's neurofibromatosis" EXACT []
synonym: "Recklinghausen disease, nerve" EXACT []
synonym: "Recklinghausen disease of nerve" EXACT []
synonym: "Recklinghausens disease of nerve" EXACT []
synonym: "von Recklinghausen's disease" EXACT []
synonym: "von Recklinghausen disease" EXACT []
synonym: "von Recklinghausens disease" EXACT []
xref: ICD10CM:Q85.01
xref: ICD9CM:237.71
xref: MESH:D009456
xref: NCI:C3273
xref: ORDO:636
is_a: DOID:8712 ! neurofibromatosis

[Term]
id: DOID:0111254
name: glutaric acidemia I
alt_id: MIM:231670
def: "An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16602100 "DO"]
synonym: "GA1" EXACT []
synonym: "GA I" EXACT []
synonym: "glutaric academia type 1" EXACT []
synonym: "glutaric acidemia 1" EXACT []
synonym: "Glutaric Acidemia Type 1" EXACT []
synonym: "Glutaric Acidemia Type I" EXACT []
synonym: "glutaric aciduria 1" EXACT []
synonym: "Glutaric Aciduria I" EXACT []
synonym: "glutaric aciduria type 1" EXACT []
synonym: "glutaric aciduria type I" EXACT []
synonym: "glutaryl-CoA dehydrogenase deficiency" EXACT []
synonym: "glutaryl-coenzyme A dehydrogenase deficiency" EXACT []
xref: GARD:6522
xref: MESH:C536833
xref: NCI:C99101
xref: ORDO:25
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060159 ! organic acidemia
is_a: DOID:9005627 ! Metabolic Brain Diseases
is_a: DOID:9009132 ! Glutaric Aciduria

[Term]
id: DOID:0111255
name: McKusick-Kaufman syndrome
alt_id: MIM:236700
def: "A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10802661 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21044901 "DO"]
synonym: "HMCS" EXACT []
synonym: "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation" EXACT []
synonym: "hydrometrocolpos-postaxial polydactyly syndrome" EXACT []
synonym: "hydrometrocolpos syndrome" EXACT []
synonym: "MKKS" EXACT []
synonym: "MKKS-RELATED CONDITION" BROAD []
xref: GARD:3427
xref: MESH:C538159
xref: ORDO:2473
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1148 ! polydactyly
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:345 ! uterine disease
is_a: DOID:9005371 ! Hydrocolpos
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0111256
name: hyperferritinemia-cataract syndrome
alt_id: MIM:600886
def: "A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7493028 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7669675 "DO"]
synonym: "Bonneau-Beaumont syndrome" EXACT []
synonym: "dominant hyperferritinemia and cataract" EXACT []
synonym: "hereditary hyperferritinemia-cataract syndrome" EXACT []
synonym: "hereditary hyperferritinemia with congenital cataracts" EXACT []
synonym: "HHCS" EXACT []
synonym: "HRFTC" EXACT []
synonym: "hyperferritinemia with or without cataract" EXACT []
xref: GARD:2806
xref: MESH:C538137
xref: ORDO:163
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9001887 ! Hyperferritinemia

[Term]
id: DOID:0111257
name: gamma-glutamyl transpeptidase deficiency
alt_id: MIM:231950
def: "An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29483667 "DO"]
synonym: "gamma-glutamyl transferase deficiency" EXACT []
synonym: "gamma-glutamyltransferase deficiency" EXACT []
synonym: "Gamma-glutamyltranspeptidase deficiency" EXACT []
synonym: "GGT1 deficiency" EXACT []
synonym: "GGT DEFICIENCY" EXACT []
synonym: "Glutathionuria" EXACT []
synonym: "GTG deficiency" EXACT []
xref: GARD:10099
xref: MESH:C536836
xref: ORDO:33573
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0111258
name: pentosuria
alt_id: DOID:9008597
def: "An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22042873 "DO"]
synonym: "essential pentosuria" EXACT []
synonym: "L-Xylulose reductase deficiency" EXACT []
synonym: "L-Xylulosuria" EXACT []
synonym: "PNTSU" EXACT []
synonym: "xylitol dehydrogenase deficiency" EXACT []
xref: GARD:418
xref: ICD10CM:E74.89
xref: MESH:C536652
xref: MIM:260800
xref: MONDO:0009846
xref: ORDO:2843
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0111259
name: postaxial acrofacial dysostosis
alt_id: MIM:263750
def: "A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19915526 "DO", https://www.ncbi.nlm.nih.gov/pubmed/501501 "DO"]
synonym: "acrofacial dysostosis, Genee-Wiedmann type" EXACT []
synonym: "Genee-Wiedemann acrofacial dysostosis" EXACT []
synonym: "Genee-Wiedemann syndrome" EXACT []
synonym: "mandibulfacial dysostosis with postaxial limb anomalies" EXACT []
synonym: "Miller syndrome" EXACT []
synonym: "POADS" EXACT []
synonym: "POADS syndrome" EXACT []
synonym: "postaxial acrodysostosis" EXACT []
synonym: "postaxial acrofacial dysostosis (POADS)" EXACT []
synonym: "postaxial acrofacial dysostosis (POADS) syndrome" EXACT []
synonym: "Wildervanck-Smith syndrome" EXACT []
xref: GARD:8410
xref: MESH:C537680
xref: ORDO:246
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9005616 ! Micrognathism
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:0111260
name: phosphoribosylpyrophosphate synthetase superactivity
alt_id: MIM:300661
def: "An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20301734 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8253776 "DO"]
synonym: "gout, PRPS-related" EXACT []
synonym: "PRPP synthetase superactivity" EXACT []
synonym: "PRPS1 superactivity" EXACT []
xref: MESH:C567064
xref: ORDO:3222
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:653 ! purine-pyrimidine metabolic disorder

[Term]
id: DOID:0111261
name: fumarase deficiency
alt_id: MIM:606812
def: "An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22069215 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8200987 "DO"]
synonym: "FH-RELATED CONDITION" BROAD []
synonym: "FMRD" EXACT []
synonym: "fumarate hydratase deficiency" EXACT []
synonym: "fumaric aciduria" EXACT []
synonym: "fumaricaciduria" EXACT []
xref: GARD:6476
xref: MESH:C538191
xref: ORDO:24
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0111262
name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
alt_id: RDO:0009933
def: "A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20950787 "DO"]
synonym: "postnatal progressive microcephaly, seizures, and brain atrophy" EXACT []
synonym: "postnatal progressive microcephaly with seizures and brain atrophy" EXACT []
xref: GARD:10995
xref: MIM:613668
xref: ORDO:402364
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10907 ! microcephaly
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9004462 ! Atrophy
is_a: DOID:936 ! brain disease

[Term]
id: DOID:0111263
name: combined malonic and methylmalonic acidemia
alt_id: MIM:614265
def: "An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21841779 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9700595 "DO"]
synonym: "CMAMMA" EXACT []
synonym: "combined malonic and methylmalonic aciduria" EXACT []
xref: GARD:10818
xref: MESH:C580002
xref: ORDO:289504
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060159 ! organic acidemia

[Term]
id: DOID:0111264
name: Ruijs-Aalfs syndrome
def: "A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25261934 "DO"]
synonym: "progeroid features-hepatocellular carcinoma predisposition syndrome" EXACT []
synonym: "RJALS" EXACT []
xref: MIM:616200
xref: ORDO:435953
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:3911 ! progeria
is_a: DOID:684 ! hepatocellular carcinoma
is_a: DOID:9002981 ! Genomic Instability
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:0111265
name: Boucher-Neuhauser syndrome
alt_id: MIM:215470
def: "A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24355708 "DO"]
synonym: "ataxia-hypogonadism-choroidal dystrophy syndrome" EXACT []
synonym: "BNHS" EXACT []
synonym: "chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism" EXACT []
xref: GARD:944
xref: MESH:C565850
xref: ORDO:1180
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:8501 ! fundus dystrophy
is_a: DOID:9002121 ! Spinocerebellar Ataxias

[Term]
id: DOID:0111266
name: geroderma osteodysplasticum
alt_id: MIM:231070
def: "A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18997784 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26000619 "DO"]
synonym: "geroderma osteodysplastica" EXACT []
synonym: "geroderma osteodysplastica hereditaria" EXACT []
synonym: "gerodermia osteodysplastica" EXACT []
synonym: "GO" EXACT []
synonym: "Walt Disney dwarfism" EXACT []
xref: GARD:413
xref: MESH:C537799
xref: ORDO:2078
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080001 ! bone disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0111267
name: hyaline body myopathy
def: "A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22918376 "DO"]
synonym: "myosin storage myopathy" EXACT []
xref: GARD:7148
xref: ORDO:53698
is_a: DOID:0081337 ! congenital myopathy

[Term]
id: DOID:0111268
name: autosomal recessive hyaline body myopathy
def: "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17372140 "DO"]
synonym: "autosomal recessive myosin storage myopathy" EXACT []
synonym: "CMYO7B" EXACT []
synonym: "CMYP7B" EXACT []
synonym: "congenital myopathy 7B" EXACT []
synonym: "congenital myopathy 7B, myosin storage, autosomal recessive" EXACT []
synonym: "MSMB" EXACT []
xref: MESH:C564970
xref: MIM:255160
xref: MONDO:0009708
xref: ORDO:636970
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111267 ! hyaline body myopathy

[Term]
id: DOID:0111269
name: autosomal dominant hyaline body myopathy
alt_id: DOID:9001810
def: "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16684601 "DO"]
synonym: "CMYO7A" EXACT []
synonym: "CMYP7A" EXACT []
synonym: "congenital myopathy 7A" EXACT []
synonym: "congenital myopathy 7A, myosin storage, autosomal dominant" EXACT []
synonym: "MSMA" EXACT []
synonym: "myopathy with lysis of type I myofibrils" EXACT []
synonym: "myosin storage myopathy, autosomal dominant" EXACT []
synonym: "scapuloperoneal muscular dystrophy" EXACT []
synonym: "scapuloperoneal myopathy, MYH7-related" EXACT []
synonym: "scapuloperoneal syndrome, myopathic type" EXACT []
synonym: "SPMD" EXACT []
synonym: "SPMM" EXACT []
xref: MESH:C564253
xref: MIM:608358
xref: MONDO:0008409
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060253 ! scapuloperoneal myopathy
is_a: DOID:0111267 ! hyaline body myopathy

[Term]
id: DOID:0111270
name: isolated sulfite oxidase deficiency
alt_id: MIM:272300
def: "An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK453433/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/6025118 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9428520 "DO"]
synonym: "sulfite oxidase deficiency" EXACT []
synonym: "sulfocysteinuria" EXACT []
xref: GARD:5062
xref: MESH:C538141
xref: ORDO:99731
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0111271
name: Oliver-McFarlane syndrome
alt_id: MIM:275400
def: "A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25480986 "DO"]
synonym: "congenital trichomegaly, pigmentary retinal degeneration, and short stature" EXACT []
synonym: "long eyelashes-intellectual disability syndrome" EXACT []
synonym: "long eyelashes, mental retardation" EXACT []
synonym: "long eyelashes with mental retardation" EXACT []
synonym: "OMCS" EXACT []
synonym: "trichomegaly, pigmentary retina degeneration, dwarfism" EXACT []
synonym: "trichomegaly-retina pigmentary degeneration-dwarfism syndrome" EXACT []
synonym: "trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina" EXACT []
xref: GARD:5266
xref: MESH:C536554
xref: ORDO:3363
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060260 ! ptosis
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:420 ! hypertrichosis
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:0111272
name: occipital horn syndrome
alt_id: MIM:304150
def: "A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7842019 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7887410 "DO"]
synonym: "EDS9" EXACT []
synonym: "EDS IX" EXACT []
synonym: "Ehlers-Danlos syndrome, occipital horn type" EXACT []
synonym: "Ehlers-Danlos syndrome type 9" EXACT []
synonym: "Ehlers-Danlos syndrome type IX" EXACT []
synonym: "OHS" EXACT []
synonym: "X-linked cutis laxa" EXACT []
xref: GARD:4017
xref: MESH:C537860
xref: ORDO:198
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome
is_a: DOID:3144 ! cutis laxa
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:0111273
name: NARP syndrome
alt_id: MIM:551500
def: "A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2137962 "DO"]
synonym: "neurogenic muscle weakness, ataxia, and retinitis pigmentosa" EXACT []
synonym: "neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome" EXACT []
synonym: "neuropathy, ataxia and retinitis pigmentosa" EXACT []
synonym: "neuropathy, ataxia, retinitis pigmentosa syndrome" EXACT []
xref: GARD:262
xref: MESH:C537396
xref: ORDO:644
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:699 ! mitochondrial myopathy

[Term]
id: DOID:0111274
name: CODAS syndrome
alt_id: MIM:600373
def: "A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25574826 "DO"]
synonym: "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome" EXACT []
synonym: "cerebral, ocular, dental, auricular, and skeletal syndrome" EXACT []
synonym: "cerebral, ocular, dental, auricular, skeletal anomalies syndrome" EXACT []
synonym: "cerebro-oculo-dento-auriculo-skeletal syndrome" EXACT []
synonym: "LONP1-RELATED CONDITION" EXACT []
xref: GARD:1418
xref: MESH:C536434
xref: NCI:C126744
xref: ORDO:1458
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9005560 ! Congenital Hip Dislocation
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:0111275
name: speech-language disorder-1
def: "A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11586359 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1934976 "DO"]
synonym: "childhood apraxia of speech" EXACT []
synonym: "developmental apraxia of speech" EXACT []
synonym: "FOXP2-RELATED CONDITION" EXACT []
synonym: "SPCH1" EXACT []
synonym: "speech and language disorder with orofacial dyspraxia" EXACT []
synonym: "speech-language disorder type 1" EXACT []
xref: GARD:12889
xref: MIM:602081
xref: ORDO:209908
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060135 ! apraxia
is_a: DOID:9005466 ! Language Development Disorders
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:0111276
name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
alt_id: MESH:C579922
alt_id: MIM:607459
alt_id: OMIA:001467
def: "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12565911 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20220442 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9222196 "DO"]
synonym: "ataxia neuropathy spectrum" EXACT []
synonym: "ATAXIA NEUROPATHY SPECTRUM DISORDERS" EXACT []
synonym: "ATAXIA WITH DYSARTHRIA" NARROW []
synonym: "autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions" EXACT []
synonym: "EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY" NARROW []
synonym: "EPM5" EXACT []
synonym: "MIRAS" EXACT []
synonym: "mitochondrial recessive ataxia syndrome" EXACT []
synonym: "progressive myoclonic epilepsy 5" EXACT []
synonym: "SANDO" EXACT []
synonym: "SCAE" NARROW []
synonym: "sensory ataxia neuropathy, dysarthria and ophthalmoplegia" EXACT []
xref: MESH:C537583
xref: ORDO:70595
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2477 ! motor peripheral neuropathy
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9001722 ! Dysarthria

[Term]
id: DOID:0111277
name: mitochondrial trifunctional protein deficiency
def: "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy that has_material_basis_in homozygous or compound heterozygous mutation in either of the subunits of the mitochondrial trifunctional protein; HADHA or HADHB on 2p23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12754706 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12838198 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7738175 "DO"]
synonym: "HADHA-RELATED CONDITION" BROAD []
synonym: "HADHA-related disorder" BROAD []
synonym: "Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency" NARROW []
synonym: "Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency" NARROW []
synonym: "Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency" NARROW []
synonym: "Long-Chain 3-OH Acyl-CoA Dehydrogenase Deficiency" NARROW []
synonym: "MTPD" EXACT []
synonym: "TFPD" EXACT []
synonym: "TFP deficiency" EXACT []
synonym: "trifunctional protein deficiency" EXACT []
synonym: "trifunctional protein deficiency with myopathy and neuropathy" RELATED []
xref: GARD:3684
xref: MESH:C566945
xref: MIM:PS609015
xref: NCI:C98991
xref: ORDO:746
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9002882 ! Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency

[Term]
id: DOID:0111278
name: histiocytosis-lymphadenopathy plus syndrome
alt_id: MIM:602782
def: "A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20140240 "DO"]
synonym: "Faisalabad histiocytosis" EXACT []
synonym: "familial Rosai-Dorfman disease" EXACT []
synonym: "histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness" EXACT []
synonym: "Histiocytosis with Joint Contractures and Sensorineural Deafness" EXACT []
synonym: "HJCD" EXACT []
synonym: "H SYNDROME" EXACT []
synonym: "Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism With or Without Hearing Loss" EXACT []
synonym: "PHID" EXACT []
synonym: "pigmented hypertrichosis with insulin-dependent diabetes mellitus" EXACT []
synonym: "pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome" EXACT []
synonym: "Rosai–Dorfman disease" EXACT []
synonym: "SHML" EXACT []
synonym: "sinus histiocytosis and massive lymphadenopathy" EXACT []
xref: EFO:1000528
xref: GARD:7588
xref: ICDO:9749/3
xref: MESH:C538322
xref: MONDO:0006412
xref: NCI:C36075
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:3405 ! histiocytosis
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:0111279
name: psoriasis 7
def: "A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17236132 "DO"]
synonym: "IL23R-RELATED CONDITION" BROAD []
synonym: "PSORIASIS 7, SUSCEPTIBILITY TO" RELATED []
synonym: "Psoriasis Susceptibility 7" RELATED []
synonym: "PSORS7" EXACT []
xref: MIM:605606
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0111280
name: psoriasis 4
def: "A psoriasis that has_material_basis_in variation in a region on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9886260 "DO"]
synonym: "PSORIASIS 4, SUSCEPTIBILITY TO" EXACT []
synonym: "Psoriasis Susceptibility 4" EXACT []
synonym: "PSORS4" EXACT []
xref: MIM:603935
xref: MONDO:0011387
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0111281
name: psoriasis 15
def: "A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24791904 "DO"]
synonym: "PSORS15" EXACT []
synonym: "pustular psoriasis 15, susceptibility to" RELATED []
xref: MIM:616106
xref: MONDO:0014494
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0111282
name: psoriasis 5
def: "A psoriasis that has_material_basis_in variation in a region on chromosome 3q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10573011 "DO"]
synonym: "PSORIASIS 5, SUSCEPTIBILITY TO" EXACT []
synonym: "Psoriasis Susceptibility 5" EXACT []
synonym: "PSORS5" EXACT []
xref: MIM:604316
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0111283
name: psoriasis 3
def: "A psoriasis that has_material_basis_in variation in a region on chromosome 4q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8841203 "DO"]
synonym: "PSORIASIS 3, SUSCEPTIBILITY TO" EXACT []
synonym: "Psoriasis Susceptibility 3" EXACT []
synonym: "PSORS3" EXACT []
xref: MIM:601454
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0111284
name: psoriasis 9
def: "A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12485440 "DO"]
synonym: "PSORIASIS 9, SUSCEPTIBILITY TO" EXACT []
synonym: "Psoriasis Susceptibility 9" EXACT []
synonym: "PSORS9" EXACT []
xref: MIM:607857
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0111285
name: psoriasis 11
def: "A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17236132 "DO"]
synonym: "PSORIASIS 11, SUSCEPTIBILITY TO" EXACT []
synonym: "Psoriasis Susceptibility 11" EXACT []
synonym: "PSORS11" EXACT []
xref: MIM:612599
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0111286
name: psoriasis 1
def: "A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11841557 "DO"]
synonym: "PSORIASIS 1, SUSCEPTIBILITY TO" EXACT []
synonym: "Psoriasis Susceptibility 1" EXACT []
synonym: "PSORS1" EXACT []
xref: MIM:177900
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0111287
name: psoriasis 13
def: "A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20953188 "DO"]
synonym: "PSORIASIS 13, SUSCEPTIBILITY TO" EXACT []
synonym: "Psoriasis Susceptibility 13" EXACT []
synonym: "PSORS13" EXACT []
xref: MIM:614070
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0111288
name: psoriasis 8
def: "A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9259283 "DO"]
synonym: "psoriasis 8, susceptibility to" EXACT []
synonym: "psoriasis susceptibility 8" EXACT []
synonym: "PSORS8" EXACT []
xref: MIM:610707
xref: MONDO:0012542
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0111289
name: psoriasis 10
def: "A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14632189 "DO"]
synonym: "PSORIASIS 10, SUSCEPTIBILITY TO" EXACT []
synonym: "Psoriasis Susceptibility 10" EXACT []
synonym: "PSORS10" EXACT []
xref: MIM:612410
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0111290
name: psoriasis 6
def: "A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10986047 "DO"]
synonym: "PSORIASIS 6, SUSCEPTIBILITY TO" EXACT []
synonym: "Psoriasis Susceptibility 6" EXACT []
synonym: "PSORS6" EXACT []
xref: MIM:605364
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:0111291
name: psoriasis 12
def: "A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18364390 "DO"]
synonym: "psoriasis 12, susceptibility to" RELATED []
synonym: "psoriasis susceptibility 12" RELATED []
synonym: "PSORS12" EXACT []
xref: MIM:612950
is_a: DOID:8893 ! psoriasis
created_by: rgd
creation_date: 2018-03-15T16:23:54Z

[Term]
id: DOID:0111292
name: idiopathic generalized epilepsy 10
def: "An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15115768 "DO"]
synonym: "EIG10" EXACT []
synonym: "EJM7" NARROW []
synonym: "GABRD-RELATED CONDITION" EXACT []
synonym: "idiopathic generalized epilepsy, susceptibility to, 10" RELATED []
synonym: "juvenile myoclonic epilepsy, susceptibility to, 7" RELATED []
xref: MIM:613060
is_a: DOID:1827 ! idiopathic generalized epilepsy

[Term]
id: DOID:0111293
name: generalized epilepsy with febrile seizures plus 4
alt_id: MIM:609800
alt_id: RDO:0013929
def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15827091 "DO"]
synonym: "GEFS+4" EXACT []
synonym: "GEFS+, type 4" EXACT []
synonym: "GEFSP4" EXACT []
synonym: "GEFSP, Type 4" EXACT []
synonym: "generalised epilepsy with febrile seizures plus 4" EXACT []
synonym: "generalised epilepsy with febrile seizures plus type 4" EXACT []
synonym: "generalized epilepsy with febrile seizures plus, type 4" EXACT []
xref: MESH:C565227
is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus

[Term]
id: DOID:0111294
name: generalized epilepsy with febrile seizures plus 2
alt_id: MIM:604403
def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10742094 "DO"]
synonym: "FEB3A" NARROW []
synonym: "GEFS+2" EXACT []
synonym: "GEFS+2  familial febrile seizures 3A" NARROW []
synonym: "GEFS+, type 2" EXACT []
synonym: "GEFSP2" EXACT []
synonym: "generalised epilepsy with febrile seizures plus 2" EXACT []
synonym: "generalised epilepsy with febrile seizures plus type 2" EXACT []
synonym: "generalized epilepsy with febrile seizures plus, type 2" EXACT []
xref: MESH:C565810
is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus

[Term]
id: DOID:0111295
name: generalized epilepsy with febrile seizures plus 7
alt_id: MIM:613863
def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19763161 "DO"]
synonym: "familial febrile seizures 3B" NARROW []
synonym: "FEB3B" NARROW []
synonym: "GEFS+7" EXACT []
synonym: "GEFS+7 FEBRILE SEIZURES, FAMILIAL, 3B" NARROW []
synonym: "GEFS+, type 7" EXACT []
synonym: "GEFSP7" EXACT []
synonym: "generalised epilepsy with febrile seizures plus 7" EXACT []
synonym: "generalised epilepsy with febrile seizures plus type 7" EXACT []
synonym: "generalized epilepsy with febrile seizures plus, type 7" EXACT []
xref: MESH:C567827
is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus

[Term]
id: DOID:0111296
name: generalized epilepsy with febrile seizures plus 10
def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30351409 "DO"]
synonym: "GEFS+10" EXACT []
synonym: "GEFS+, type 10" EXACT []
synonym: "GEFSP10" EXACT []
synonym: "generalised epilepsy with febrile seizures plus 10" EXACT []
synonym: "generalised epilepsy with febrile seizures plus type 10" EXACT []
synonym: "generalized epilepsy with febrile seizures plus, type 10" EXACT []
xref: MIM:618482
is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus

[Term]
id: DOID:0111297
name: familial febrile seizures
def: "A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12429594 "DO"]
synonym: "familial febrile convulsions" EXACT []
synonym: "FEB" EXACT []
xref: MIM:PS121210
is_a: DOID:9007956 ! Febrile Seizures
created_by: rgd
creation_date: 2017-11-30T00:00:00Z

[Term]
id: DOID:0111298
name: familial febrile seizures 8
alt_id: MIM:607681
def: "A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8730286 "DO"]
synonym: "familial febrile convulsions 8" EXACT []
synonym: "FEB8" EXACT []
synonym: "GABRG2-RELATED CONDITION" BROAD []
synonym: "GEFS+3 familial febrile seizures 8" EXACT []
xref: MESH:C566975
is_a: DOID:0111297 ! familial febrile seizures

[Term]
id: DOID:0111299
name: generalized epilepsy with febrile seizures plus 8
def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19841378 "DO"]
synonym: "GEFS+8" EXACT []
synonym: "GEFS+, TYPE 8" EXACT []
synonym: "GEFSP8" EXACT []
synonym: "generalised epilepsy with febrile seizures plus 8" EXACT []
synonym: "generalised epilepsy with febrile seizures plus type 8" EXACT []
synonym: "Generalized Epilepsy with Febrile Seizures Plus, Type 8" EXACT []
xref: MIM:613828
is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus

[Term]
id: DOID:0111300
name: generalized epilepsy with febrile seizures plus 6
alt_id: MIM:612279
def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18625863 "DO"]
synonym: "GEFS+6" EXACT []
synonym: "GEFSP6" EXACT []
synonym: "GEFS, Type 6" EXACT []
synonym: "generalised epilepsy with febrile seizures plus 6" EXACT []
synonym: "generalised epilepsy with febrile seizures plus type 6" EXACT []
synonym: "generalized epilepsy with febrile seizures plus, type 6" EXACT []
xref: MESH:C567371
is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus

[Term]
id: DOID:0111301
name: generalized epilepsy with febrile seizures plus 9
alt_id: RDO:9001363
def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25362483 "DO"]
synonym: "GEFS+9" EXACT []
synonym: "GEFS+, type 9" EXACT []
synonym: "GEFSP9" EXACT []
synonym: "generalised epilepsy with febrile seizures plus 9" EXACT []
synonym: "generalised epilepsy with febrile seizures plus type 9" EXACT []
synonym: "generalized epilepsy with febrile seizures plus, type 9" EXACT []
xref: MIM:616172
xref: NCI:C192201
is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus

[Term]
id: DOID:0111302
name: generalized epilepsy with febrile seizures plus 1
alt_id: MIM:604233
def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9697698 "DO"]
synonym: "GEFS+1" EXACT []
synonym: "GEFSP1" EXACT []
synonym: "GEFS, type 1" EXACT []
synonym: "generalised epilepsy with febrile seizures plus 1" EXACT []
synonym: "generalised epilepsy with febrile seizures plus type 1" EXACT []
synonym: "generalized epilepsy with febrile seizures plus, type 1" EXACT []
xref: MESH:C565809
is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus
created_by: rgd
creation_date: 2017-12-11T00:00:00Z

[Term]
id: DOID:0111303
name: familial febrile seizures 9
alt_id: MIM:611634
def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17452582 "DO"]
synonym: "familial febrile convulsions 9" EXACT []
synonym: "FEB9" EXACT []
xref: MESH:C566901
is_a: DOID:0111297 ! familial febrile seizures

[Term]
id: DOID:0111304
name: familial febrile seizures 10
alt_id: MIM:612637
def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18830713 "DO"]
synonym: "familial febrile convulsions 10" EXACT []
synonym: "FEB10" EXACT []
xref: MESH:C567218
is_a: DOID:0111297 ! familial febrile seizures

[Term]
id: DOID:0111305
name: familial febrile seizures 4
def: "A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12402266 "DO"]
synonym: "ADGRV1-RELATED CONDITION" BROAD []
synonym: "ADGRV1-RELATED DISORDER" BROAD []
synonym: "familial febrile convulsions 4" EXACT []
synonym: "FEB4" EXACT []
xref: MESH:C565788
xref: MIM:604352
xref: MONDO:0011443
is_a: DOID:0111297 ! familial febrile seizures
created_by: slaulede
creation_date: 2018-07-10T17:55:06Z

[Term]
id: DOID:0111306
name: familial febrile seizures 5
alt_id: MIM:609255
def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12429594 "DO"]
synonym: "familial febrile convulsions 5" EXACT []
synonym: "FEB5" EXACT []
xref: MESH:C563762
is_a: DOID:0111297 ! familial febrile seizures

[Term]
id: DOID:0111307
name: familial febrile seizures 1
alt_id: MIM:121210
def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8730286 "DO"]
synonym: "familial febrile convulsions 1" EXACT []
synonym: "familial seizures 1" EXACT []
synonym: "FEB1" EXACT []
xref: MESH:C565162
is_a: DOID:0111297 ! familial febrile seizures
created_by: rgd
creation_date: 2018-01-17T16:37:25Z

[Term]
id: DOID:0111308
name: familial febrile seizures 11
def: "A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21922598 "DO"]
synonym: "CPA6-RELATED CONDITION" BROAD []
synonym: "familial febrile convulsions 11" EXACT []
synonym: "FEB11" EXACT []
xref: MIM:614418
is_a: DOID:0111297 ! familial febrile seizures

[Term]
id: DOID:0111309
name: familial febrile seizures 6
alt_id: MIM:609253
def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15557493 "DO"]
synonym: "familial febrile convulsions 6" EXACT []
synonym: "FEB6" EXACT []
xref: MESH:C563764
is_a: DOID:0111297 ! familial febrile seizures

[Term]
id: DOID:0111310
name: familial febrile seizures 2
alt_id: MIM:602477
def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9384604 "DO"]
synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 17" RELATED []
synonym: "familial febrile convulsions 2" EXACT []
synonym: "FEB2" EXACT []
synonym: "HCN2 RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY" RELATED []
xref: MESH:C566541
is_a: DOID:0111297 ! familial febrile seizures

[Term]
id: DOID:0111311
name: familial febrile seizures 7
alt_id: MIM:611515
def: "A familial febrile seizures that has_material_basis_in heterozygous mutation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17054683 "DO"]
synonym: "familial febrile convulsions 7" EXACT []
synonym: "FEB7" EXACT []
xref: MESH:C566929
is_a: DOID:0111297 ! familial febrile seizures

[Term]
id: DOID:0111312
name: idiopathic generalized epilepsy 11
def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19710712 "DO"]
synonym: "EIG11" EXACT []
synonym: "EJA2" NARROW []
synonym: "EJM8" NARROW []
synonym: "idiopathic generalized epilepsy, susceptibility to, 11" RELATED []
synonym: "juvenile absence epilepsy, susceptibility to, 2" RELATED []
synonym: "juvenile myoclonic epilepsy, susceptibility to, 8" RELATED []
xref: MIM:607628
is_a: DOID:0060172 ! juvenile absence epilepsy
is_a: DOID:1827 ! idiopathic generalized epilepsy
is_a: DOID:4890 ! juvenile myoclonic epilepsy

[Term]
id: DOID:0111313
name: idiopathic generalized epilepsy 12
def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19798636 "DO"]
synonym: "EIG12" EXACT []
synonym: "idiopathic generalized epilepsy, susceptibility to, 12" RELATED []
xref: MIM:614847
is_a: DOID:1827 ! idiopathic generalized epilepsy

[Term]
id: DOID:0111314
name: idiopathic generalized epilepsy 13
def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11992121 "DO"]
synonym: "ECA4" NARROW []
synonym: "EIG13" EXACT []
synonym: "EJM5" NARROW []
synonym: "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4" NARROW []
synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13" RELATED []
synonym: "EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5" NARROW []
xref: MIM:611136
is_a: DOID:1825 ! childhood absence epilepsy
is_a: DOID:1827 ! idiopathic generalized epilepsy
is_a: DOID:4890 ! juvenile myoclonic epilepsy

[Term]
id: DOID:0111315
name: idiopathic generalized epilepsy 14
def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24928908 "DO"]
synonym: "EIG14" EXACT []
synonym: "idiopathic generalized epilepsy, susceptibility to, 14" RELATED []
xref: MIM:616685
is_a: DOID:1827 ! idiopathic generalized epilepsy

[Term]
id: DOID:0111316
name: idiopathic generalized epilepsy 15
def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27352968 "DO"]
synonym: "EIG15" EXACT []
synonym: "idiopathic generalized epilepsy, susceptibility to, 15" RELATED []
xref: MIM:618357
is_a: DOID:1827 ! idiopathic generalized epilepsy

[Term]
id: DOID:0111317
name: idiopathic generalized epilepsy 2
def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10888596 "DO"]
synonym: "EIG2" EXACT []
synonym: "idiopathic generalized epilepsy, susceptibility to, 2" RELATED []
xref: MIM:606972
is_a: DOID:1827 ! idiopathic generalized epilepsy

[Term]
id: DOID:0111318
name: idiopathic generalized epilepsy 3
def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15101829 "DO"]
synonym: "EIG3" EXACT []
synonym: "idiopathic generalized epilepsy, susceptibility to, 3" RELATED []
xref: MIM:608762
is_a: DOID:1827 ! idiopathic generalized epilepsy

[Term]
id: DOID:0111319
name: idiopathic generalized epilepsy 4
def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16130088 "DO"]
synonym: "EIG4" EXACT []
synonym: "idiopathic generalized epilepsy, susceptibility to, 4" RELATED []
xref: MIM:609750
is_a: DOID:1827 ! idiopathic generalized epilepsy

[Term]
id: DOID:0111320
name: idiopathic generalized epilepsy 5
def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18241056 "DO"]
synonym: "EIG5" EXACT []
synonym: "idiopathic generalized epilepsy, susceptibility to, 5" RELATED []
xref: MIM:611934
is_a: DOID:1827 ! idiopathic generalized epilepsy
created_by: rgd
creation_date: 2018-03-12T14:56:55Z

[Term]
id: DOID:0111321
name: idiopathic generalized epilepsy 7
def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9259280 "DO"]
synonym: "EIG7" EXACT []
synonym: "EJM2" NARROW []
synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7" EXACT []
synonym: "MYOCLONIC EPILEPSY, JUVENILE, 2" NARROW []
xref: MIM:604827
is_a: DOID:1827 ! idiopathic generalized epilepsy
is_a: DOID:4890 ! juvenile myoclonic epilepsy

[Term]
id: DOID:0111322
name: idiopathic generalized epilepsy 8
def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18756473 "DO"]
synonym: "EIG8" EXACT []
synonym: "idiopathic generalized epilepsy, susceptibility to, 8" RELATED []
xref: MIM:612899
is_a: DOID:1827 ! idiopathic generalized epilepsy

[Term]
id: DOID:0111323
name: idiopathic generalized epilepsy 9
def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10762541 "DO"]
synonym: "EIG9" EXACT []
synonym: "EJM6" NARROW []
synonym: "EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6" RELATED []
synonym: "idiopathic generalized epilepsy, susceptibility to, 9" RELATED []
xref: MIM:607682
is_a: DOID:1827 ! idiopathic generalized epilepsy

[Term]
id: DOID:0111324
name: juvenile absence epilepsy 1
def: "A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14663045 "DO"]
synonym: "EJA1" EXACT []
synonym: "JAE1" EXACT []
synonym: "juvenile absence epilepsy, susceptibility to, 1" RELATED []
xref: MIM:607631
is_a: DOID:0060172 ! juvenile absence epilepsy

[Term]
id: DOID:0111325
name: juvenile myoclonic epilepsy 10
def: "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29539279 "DO"]
synonym: "EJM10" EXACT []
xref: MIM:617924
is_a: DOID:4890 ! juvenile myoclonic epilepsy

[Term]
id: DOID:0111326
name: juvenile myoclonic epilepsy 3
def: "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12830434 "DO"]
synonym: "EJM3" EXACT []
synonym: "MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3" EXACT []
xref: MIM:608816
is_a: DOID:4890 ! juvenile myoclonic epilepsy

[Term]
id: DOID:0111327
name: juvenile myoclonic epilepsy 4
def: "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17431681 "DO"]
synonym: "EJM4" EXACT []
synonym: "MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4" EXACT []
xref: MIM:611364
is_a: DOID:4890 ! juvenile myoclonic epilepsy

[Term]
id: DOID:0111328
name: juvenile myoclonic epilepsy 9
def: "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20467754 "DO"]
synonym: "EJM9" EXACT []
synonym: "Epilepsy, juvenile myoclonic, susceptibility to, 9" EXACT []
xref: MIM:614280
is_a: DOID:4890 ! juvenile myoclonic epilepsy

[Term]
id: DOID:0111329
name: pyridoxamine 5'-phosphate oxidase deficiency
alt_id: MIM:610090
def: "A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24658933 "DO"]
synonym: "PNPOD" EXACT []
synonym: "PNPO deficiency" EXACT []
synonym: "PNPO-Related Neonatal Epileptic Encephalopathy" EXACT []
synonym: "Pyridoxal 5'-Phosphate-Dependent Epilepsy" EXACT []
synonym: "pyridoxal phosphate-dependent seizures" EXACT []
synonym: "pyridoxal phosphate-responsive seizures" EXACT []
synonym: "pyridoxamine 5'-oxidase deficiency" EXACT []
synonym: "Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency" EXACT []
synonym: "pyridoxine-5'-phosphate oxidase deficiency" EXACT []
synonym: "pyridoxine-resistant seizures, PLP-sensitive" EXACT []
xref: GARD:10730
xref: MESH:C566449
xref: ORDO:79096
is_a: DOID:0050718 ! vitamin metabolic disorder
is_a: DOID:1826 ! epilepsy
is_a: DOID:9003676 ! Brain Hypoxia-Ischemia
is_a: DOID:9005627 ! Metabolic Brain Diseases

[Term]
id: DOID:0111330
name: combined saposin deficiency
alt_id: MIM:611721
def: "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11309366 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1371116 "DO"]
synonym: "combined SAP deficiency" EXACT []
synonym: "encephalopathy due to prosaposin deficiency" EXACT []
synonym: "prosaposin deficiency" EXACT []
synonym: "PSAPD" EXACT []
synonym: "SPHINGOLIPID ACTIVATOR PROTEIN 1 DEFICIENCY" EXACT []
xref: MESH:C567125
xref: ORDO:139406
is_a: DOID:10581 ! metachromatic leukodystrophy

[Term]
id: DOID:0111331
name: intellectual disability-severe speech delay-mild dysmorphism syndrome
def: "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24214399 "DO"]
synonym: "FOXP1 Haploinsufficiency" EXACT []
synonym: "FOXP1-RELATED CONDITION" EXACT []
synonym: "FOXP1-Related Neurodevelopmental Disorder" EXACT []
synonym: "FOXP1 syndrome" EXACT []
synonym: "IDDLA" EXACT []
synonym: "intellectual developmental disorder with language impairment and with or without autistic features" EXACT []
synonym: "intellectual disability with language impairment" EXACT []
synonym: "INTELLECTUAL DISABILITY WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES" NARROW []
synonym: "mental retardation with language impairment and autistic features" NARROW []
synonym: "mental retardation with language impairment and with or without autistic features" EXACT []
xref: EFO:1001500
xref: GARD:12501
xref: MIM:613670
xref: MONDO:0013352
xref: ORDO:391372
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050888 ! syndromic intellectual disability
is_a: DOID:12849 ! autistic disorder
is_a: DOID:9005466 ! Language Development Disorders

[Term]
id: DOID:0111332
name: Pitt-Hopkins-like syndrome 2
def: "A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19896112 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22617343 "DO"]
synonym: "NRXN1-RELATED CONDITION" BROAD []
synonym: "NRXN-related disorder" BROAD []
synonym: "PTHSL2" EXACT []
xref: MIM:614325
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050888 ! syndromic intellectual disability
is_a: DOID:0060488 ! Pitt-Hopkins syndrome

[Term]
id: DOID:0111333
name: early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
def: "A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22101682 "DO"]
synonym: "CMYO10A" NARROW []
synonym: "CMYP10A" NARROW []
synonym: "congenital myopathy 10A" EXACT []
synonym: "Congenital myopathy 10A, severe variant" NARROW []
synonym: "EMARDD" EXACT []
synonym: "MEGF10-related myopathy" EXACT []
synonym: "Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset" EXACT []
synonym: "Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset, Mild Variant" NARROW []
xref: GARD:12199
xref: MIM:614399
xref: MONDO:0013731
xref: ORDO:439212
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:9000123 ! Deglutition Disorders
is_a: DOID:9004659 ! Respiration Disorders
is_a: DOID:9005219 ! Abnormal Reflexes

[Term]
id: DOID:0111334
name: congenital leptin deficiency
def: "A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10523015 "DO"]
synonym: "LEPD" EXACT []
synonym: "LEP-RELATED CONDITION" EXACT []
synonym: "Leptin Deficiency" NARROW []
synonym: "leptin deficiency or dysfunction" EXACT []
synonym: "LEPTIN DYSFUNCTION" NARROW []
synonym: "nonsyndromic morbid obesity 1" EXACT []
synonym: "obesity due to congenital leptin deficiency" EXACT []
xref: MIM:614962
xref: ORDO:66628
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:11981 ! morbid obesity
is_a: DOID:225 ! syndrome
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0111335
name: myopathy with extrapyramidal signs
def: "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24336167 "DO"]
synonym: "MPXPS" EXACT []
synonym: "proximal myopathy with extrapyramidal signs" EXACT []
xref: GARD:12978
xref: MIM:615673
xref: ORDO:401768
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:423 ! myopathy
is_a: DOID:9005532 ! Muscle Weakness

[Term]
id: DOID:0111336
name: craniofacial-deafness-hand syndrome
alt_id: MIM:122880
def: "A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6859126 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8664898 "DO"]
synonym: "CDHS" EXACT []
synonym: "Sommer-Young-Wee-Frye syndrome" EXACT []
xref: GARD:1571
xref: MESH:C536453
xref: ORDO:1529
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0111337
name: Jackson-Weiss syndrome
alt_id: MIM:123150
def: "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1271196 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7874170 "DO"]
synonym: "acrocephalosyndactyly Jackson Weiss type" EXACT []
synonym: "craniosynostosis, midfacial hypoplasia, and foot abnormalities" EXACT []
synonym: "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome" EXACT []
synonym: "enlarged great toes and craniofacial abnormalities" EXACT []
synonym: "JWS" EXACT []
xref: GARD:6796
xref: MESH:C537559
xref: NCI:C123814
xref: ORDO:1540
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9000067 ! Congenital Foot Deformities

[Term]
id: DOID:0111338
name: isolated elevated serum creatine phosphokinase levels
def: "An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3. (DO)" [https://ghr.nlm.nih.gov/condition/isolated-hyperckemia "DO", https://www.ncbi.nlm.nih.gov/pubmed/10746614 "DO"]
synonym: "CPK, ELEVATED SERUM" EXACT []
synonym: "Creatine Phosphokinase, Elevated Serum" EXACT []
synonym: "idiopathic hyperCKemia" EXACT []
synonym: "isolated hyperCKemia" EXACT []
xref: MIM:123320
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0111339
name: Vohwinkel syndrome
alt_id: MIM:124500
def: "A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10369869 "DO"]
synonym: "congenital deafness with keratopachydermia and constrictions fo fingers and toes" EXACT []
synonym: "congenital deafness with keratopachydermia and constrictions of fingers and toes" EXACT []
synonym: "keratoderma hereditarium mutilans" EXACT []
synonym: "KHM" EXACT []
synonym: "mutilating keratoderma" EXACT []
synonym: "mutilating keratoderma of Vohwinkel" EXACT []
synonym: "mutilating keratoderma plus deafness" EXACT []
synonym: "palmoplantar keratoderma mutilans" EXACT []
synonym: "palmoplantar keratoderma mutilans Vohwinkel" EXACT []
synonym: "PPK mutilans and deafness" EXACT []
synonym: "PPK mutilans Vohwinkel" EXACT []
synonym: "VOWNKL" EXACT []
xref: MESH:C536457
xref: ORDO:3092
xref: ORDO:494
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: rgd
creation_date: 2017-12-04T00:00:00Z

[Term]
id: DOID:0111340
name: dominant optic atrophy plus syndrome
alt_id: MIM:125250
def: "A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12566046 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20157015 "DO"]
synonym: "AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME" EXACT []
synonym: "DOA+" EXACT []
synonym: "OPA1-RELATED OPTIC ATROPHY WITH OR WITHOUT EXTRAOCULAR FEATURES" EXACT []
synonym: "optic atrophy 1 and deafness" EXACT []
synonym: "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" EXACT []
xref: GARD:5243
xref: MESH:C537124
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:0111341
name: primary failure of tooth eruption
alt_id: MIM:125350
def: "A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19061984 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29544499 "DO"]
synonym: "dental noneruption" EXACT []
synonym: "PFE" EXACT []
synonym: "Posterior Openbite, Familial" EXACT []
synonym: "POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL" EXACT []
synonym: "Primary Failure of Eruption, Nonsyndromic" EXACT []
synonym: "Primary Retention of Teeth" EXACT []
synonym: "unerupted second primary molar" EXACT []
xref: MESH:C565114
xref: ORDO:412206
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1091 ! tooth disease

[Term]
id: DOID:0111342
name: dermatopathia pigmentosa reticularis
alt_id: MIM:125595
def: "An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1303619 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16960809 "DO"]
synonym: "DPR" EXACT []
xref: GARD:8550
xref: MESH:C535374
xref: ORDO:86920
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:4123 ! nail disease
is_a: DOID:9003984 ! Hyperpigmentation
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:987 ! alopecia

[Term]
id: DOID:0111343
name: lateral meningocele syndrome
alt_id: MIM:130720
def: "A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25394726 "DO"]
synonym: "Lehman syndrome" EXACT []
synonym: "LMNS" EXACT []
synonym: "LMS" EXACT []
xref: GARD:9873
xref: MESH:C537878
xref: ORDO:2789
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1088 ! meningocele
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: rgd
creation_date: 2017-12-01T00:00:00Z

[Term]
id: DOID:0111344
name: myeloproliferative disorder with eosinophilia
alt_id: MIM:131440
def: "A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12181402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8168137 "DO"]
synonym: "atypical Philadelphia-negative chronic myeloid leukemia" EXACT []
synonym: "chronic myeloproliferative disorder with eosinophilia" EXACT []
synonym: "Clonal Eosinophilia with Chronic Myeloproliferative Disorder" EXACT []
synonym: "EMP" EXACT []
synonym: "Eosinophils, Malignant Proliferation of" EXACT []
synonym: "MPE" EXACT []
synonym: "PDGFRB-associated chronic eosinophilic leukemia" EXACT []
synonym: "primary eosinophilia with chronic myeloproliferative disorder" EXACT []
xref: MESH:C565054
xref: MESH:C580365
is_a: DOID:0080188 ! chronic myelomonocytic leukemia
is_a: DOID:2226 ! myeloproliferative neoplasm
is_a: DOID:9001371 ! Eosinophilia
is_a: DOID:999 ! hypereosinophilic syndrome

[Term]
id: DOID:0111345
name: transient bullous dermolysis of the newborn
def: "An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16225626 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9406826 "DO"]
synonym: "DEB-BDN" EXACT []
synonym: "DEB, bullous dermolysis of the newborn" EXACT []
synonym: "dystrophic epidermolysis bullosa, dominant neonatal" EXACT []
synonym: "dystrophic epidermolysis bullosa, neonatal" EXACT []
synonym: "epidermolysis bullosa dystrophica, dominant neonatal form" EXACT []
synonym: "epidermolysis bullosa dystrophica, neonatal form" EXACT []
synonym: "TBDN" EXACT []
xref: GARD:10010
xref: MESH:C536979
xref: MIM:131705
xref: MONDO:0007548
xref: ORDO:79411
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:4959 ! epidermolysis bullosa dystrophica

[Term]
id: DOID:0111346
name: epidermolysis bullosa simplex with mottled pigmentation
alt_id: MIM:131960
def: "An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/421361 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8799157 "DO"]
synonym: "EBS2F" EXACT []
synonym: "EBSMP" EXACT []
synonym: "epidermolysis bullosa simplex 2F with mottled pigmentation" EXACT []
synonym: "epidermolysis bullosa simplex-MP" EXACT []
synonym: "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering" EXACT []
synonym: "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering" EXACT []
xref: GARD:9737
xref: MESH:C535959
xref: ORDO:79397
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4644 ! epidermolysis bullosa simplex

[Term]
id: DOID:0111347
name: epidermolysis bullosa with congenital localized absence of skin and deformity of nails
alt_id: MIM:132000
def: "An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5910871 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8618021 "DO"]
synonym: "EBD, Bart type" EXACT []
synonym: "epidermolysis bullosa dystrophica, Bart type" EXACT []
xref: MESH:C562638
is_a: DOID:0080015 ! physical disorder
is_a: DOID:0080224 ! autosomal dominant dystrophic epidermolysis bullosa

[Term]
id: DOID:0111348
name: multiple epiphyseal dysplasia with myopia and deafness
alt_id: MIM:132450
def: "A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/699354 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9800905 "DO"]
synonym: "EDMMD" EXACT []
synonym: "multiple epiphyseal dysplasia, Beighton type" EXACT []
synonym: "multiple epiphyseal dysplasia-myopia-deafness syndrome" EXACT []
synonym: "multiple epiphyseal dysplasia with myopia and conductive deafness" EXACT []
xref: MESH:C565046
xref: ORDO:166011
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11830 ! myopia
is_a: DOID:12721 ! multiple epiphyseal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:0111349
name: hereditary desmoid disease
alt_id: MIM:135290
def: "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10782927 "DO"]
synonym: "desmoid tumor caused by somatic mutation" EXACT []
synonym: "familial infiltrative fibromatosis" EXACT []
synonym: "FIF" EXACT []
xref: MESH:C535944
is_a: DOID:0050424 ! familial adenomatous polyposis
is_a: DOID:9003078 ! Abdominal Neoplasms
is_a: DOID:9003291 ! Aggressive Fibromatosis

[Term]
id: DOID:0111350
name: Laurin-Sandrow syndrome
alt_id: MIM:135750
def: "A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24456159 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4314818 "DO"]
synonym: "duplication of fibula and ulna with absence of tibia and radius" EXACT []
synonym: "fibula ulna duplication, tibia radius absence" EXACT []
synonym: "Laurin-Sandrow Syndrome, Segmental" EXACT []
synonym: "LSS" EXACT []
synonym: "miccor hands and feet with nasal defects" EXACT []
synonym: "MIP" EXACT []
synonym: "MIPduplication of fibuland ulna with absence of tibia and radius" EXACT []
synonym: "mirror hands and feets-nasal defects syndrome" EXACT []
synonym: "mirror hands and feet with nasal defects" EXACT []
synonym: "mirror-image polydactyly" EXACT []
synonym: "Sandrow syndrome" EXACT []
synonym: "tetramelic mirror-image polydactyly" EXACT []
synonym: "TMIP" EXACT []
xref: GARD:155
xref: MESH:C535689
xref: ORDO:2378
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1934 ! dysostosis
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9000545 ! Ectromelia
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0111351
name: D-2-hydroxyglutaric aciduria 1
def: "A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15609246 "DO"]
synonym: "D2HGA1" EXACT []
xref: MIM:600721
is_a: DOID:0050575 ! D-2-hydroxyglutaric aciduria
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0111352
name: D-2-hydroxyglutaric aciduria 2
def: "A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20847235 "DO"]
synonym: "D2HGA2" EXACT []
xref: MIM:613657
is_a: DOID:0050575 ! D-2-hydroxyglutaric aciduria
is_a: DOID:0050736 ! autosomal dominant disease
created_by: slaulede
creation_date: 2019-07-08T10:32:00Z

[Term]
id: DOID:0111353
name: arthrogryposis, renal dysfunction, and cholestasis 1
def: "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15052268 "DO"]
synonym: "ARCS1" EXACT []
xref: MIM:208085
is_a: DOID:0050763 ! ARC syndrome

[Term]
id: DOID:0111354
name: arthrogryposis, renal dysfunction, and cholestasis 2
def: "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20190753 "DO"]
synonym: "ARCS2" EXACT []
xref: MIM:613404
is_a: DOID:0050763 ! ARC syndrome

[Term]
id: DOID:0111355
name: hydrolethalus syndrome 1
alt_id: MIM:236680
def: "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15843405 "DO"]
synonym: "HLS1" EXACT []
xref: MESH:C565504
is_a: DOID:0050779 ! hydrolethalus syndrome

[Term]
id: DOID:0111356
name: hydrolethalus syndrome 2
def: "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21552264 "DO"]
synonym: "HLS2" EXACT []
xref: MIM:614120
is_a: DOID:0050779 ! hydrolethalus syndrome

[Term]
id: DOID:0111357
name: adermatoglyphia
alt_id: MIM:136000
def: "A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21820097 "DO"]
synonym: "absence of fingerprints" EXACT []
synonym: "ADERM" EXACT []
synonym: "ADG" EXACT []
synonym: "Congenital absence of fingerprints" EXACT []
synonym: "Immigration delay disease" EXACT []
synonym: "isolated congenital adermatoglyphia" EXACT []
xref: GARD:12550
xref: MESH:C565010
xref: ORDO:289465
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0111358
name: Floating-Harbor syndrome
alt_id: MIM:136140
def: "A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. (DO)" [https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/22265015 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7588969 "DO"]
synonym: "FLHS" EXACT []
synonym: "Leisti-Hollander-Rimoin syndrome" EXACT []
synonym: "Pelletier-Leisti syndrome" EXACT []
synonym: "SRCAP-RELATED CONDITION" BROAD []
xref: GARD:6455
xref: MESH:C537062
xref: NCI:C175241
xref: ORDO:2044
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1657 ! ventricular septal defect
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0111359
name: large congenital melanocytic nevus
alt_id: MIM:137550
def: "A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18671780 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23392294 "DO"]
synonym: "CMNS" EXACT []
synonym: "congenital melanocytic nevus syndrome, somatic" EXACT []
synonym: "Congenital pigmented nevus" EXACT []
synonym: "Giant congenital melanocytic nevus" EXACT []
synonym: "GIANT CONGENITAL PIGMENTED NEVUS" EXACT []
synonym: "Giant Pigmented Hairy Nevus" EXACT []
synonym: "GMN" EXACT []
synonym: "GPHN" EXACT []
synonym: "LCMN" EXACT []
synonym: "MELANOCYTIC NEVUS SYNDROME, CONGENITAL" EXACT []
synonym: "PIGMENTED MOLES  NEVUS SPILUS" NARROW []
synonym: "spitz nevus" NARROW []
xref: MESH:C536819
xref: NCI:C3944
xref: NCI:C4234
xref: ORDO:626
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:9005120 ! Pigmented Nevus

[Term]
id: DOID:0111360
name: hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
alt_id: MIM:137940
def: "A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24697860 "DO"]
synonym: "cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis" EXACT []
synonym: "glomerulonephritis, sparse hair, telangiectases" EXACT []
synonym: "glomerulonephritis with sparse hair and telangiectases" EXACT []
synonym: "HLT-renal defect syndrome" EXACT []
synonym: "HLTRS" EXACT []
synonym: "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome" EXACT []
synonym: "telangiectatic membranoproliferative glomerulonephritis" EXACT []
xref: MESH:C536825
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111361 ! hypotrichosis-lymphedema-telangiectasia syndrome
is_a: DOID:225 ! syndrome
is_a: DOID:2920 ! membranoproliferative glomerulonephritis
is_a: DOID:987 ! alopecia

[Term]
id: DOID:0111361
name: hypotrichosis-lymphedema-telangiectasia syndrome
alt_id: MIM:607823
def: "A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12740761 "DO"]
synonym: "HLTS" EXACT []
xref: MESH:C564327
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1272 ! telangiectasis
is_a: DOID:225 ! syndrome
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:4977 ! lymphedema

[Term]
id: DOID:0111362
name: hawkinsinuria
alt_id: DOID:9008030
alt_id: MIM:140350
def: "An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11073718 "DO"]
synonym: "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency" EXACT []
synonym: "4-HPPD deficiency" EXACT []
synonym: "4-hydroxyphenylpyruvic acid dioxygenase deficiency" EXACT []
xref: GARD:5668
xref: MESH:C535845
xref: ORDO:2118
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9275 ! tyrosinemia

[Term]
id: DOID:0111363
name: Heinz body anemia
alt_id: MIM:140700
def: "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14184033 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3997544 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8704193 "DO"]
synonym: "Heinz Body Anemias" EXACT []
synonym: "Heinz Body Hemolytic Anemia" EXACT []
synonym: "Hemoglobin Tacoma" EXACT []
xref: GARD:10718
xref: MESH:C563030
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia

[Term]
id: DOID:0111364
name: Alzheimer's disease 9
alt_id: MIM:608907
def: "An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21460840 "DO"]
synonym: "AD9" EXACT []
synonym: "Alzheimer's disease 9, late onset" EXACT []
synonym: "Alzheimer disease 9" EXACT []
synonym: "Alzheimer Disease 9, Late-Onset" EXACT []
synonym: "Alzheimer disease 9, susceptibility to" RELATED []
xref: MESH:C563834
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:0111365
name: benign familial hematuria
def: "A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8787673 "DO"]
synonym: "BFH" EXACT []
synonym: "familial hematuria" EXACT []
synonym: "MICROSCOPIC HEMATURIA" EXACT []
synonym: "Thin-Basement-Membrane Nephropathy" EXACT []
synonym: "thin membrane nephropathy" EXACT []
synonym: "TMN" EXACT []
xref: MESH:C562476
xref: MIM:PS141200
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9000363 ! Hematuria

[Term]
id: DOID:0111366
name: familial hepatic adenoma
alt_id: MIM:142330
def: "A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/207987 "DO"]
synonym: "familial hepatic adenomas" EXACT []
synonym: "familial liver cell adenomas" EXACT []
xref: MESH:C564190
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050868 ! hepatocellular adenoma

[Term]
id: DOID:0111367
name: Beukes hip dysplasia
alt_id: MIM:142669
def: "An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26428751 "DO"]
synonym: "Beukes familial hip dysplasia" EXACT []
synonym: "BFHD" EXACT []
synonym: "BHD" EXACT []
synonym: "Cilliers-Beighton syndrome" EXACT []
synonym: "Hip Dysplasia, Beukes Type" EXACT []
synonym: "premature degenerative osteoarthropathy of hip" EXACT []
synonym: "premature degenerative osteoarthropathy of the hip" EXACT []
xref: GARD:2690
xref: MESH:C564185
xref: ORDO:2114
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:8398 ! osteoarthritis
is_a: DOID:9005560 ! Congenital Hip Dislocation

[Term]
id: DOID:0111368
name: cholesterol-ester transfer protein deficiency
def: "A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/168823 "DO"]
synonym: "CEPT deficiency" EXACT []
synonym: "CETP deficiency" EXACT []
synonym: "Cholesteryl Ester Transfer Protein Deficiency" EXACT []
synonym: "familial hyperalphalipoproteinemia" EXACT []
synonym: "hyperalphalipoproteinemia" EXACT []
xref: MESH:C564591
xref: ORDO:79506
is_a: DOID:9007571 ! Hyperlipoproteinemias

[Term]
id: DOID:0111369
name: hyperalphalipoproteinemia 1
def: "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215607 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6738363 "DO"]
synonym: "CETP deficiency" EXACT []
synonym: "HALP1" EXACT []
xref: MIM:143470
xref: NCI:C128806
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111368 ! cholesterol-ester transfer protein deficiency

[Term]
id: DOID:0111370
name: apolipoprotein C-III deficiency
alt_id: MIM:614028
def: "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2022742 "DO"]
synonym: "HALP2" EXACT []
synonym: "hyperalphalipoproteinemia 2" EXACT []
xref: MESH:C566270
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111368 ! cholesterol-ester transfer protein deficiency

[Term]
id: DOID:0111371
name: isolated hyperchlorhidrosis
def: "A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. (DO)" [https://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/21184099 "DO"]
synonym: "carbonic anhydrase XII deficiency" EXACT []
synonym: "HYCHL" EXACT []
xref: MIM:143860
xref: ORDO:542657
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9004062 ! Hyperhidrosis

[Term]
id: DOID:0111373
name: familial progressive hyperpigmentation with or without hypopigmentation
alt_id: MIM:145250
def: "A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19375057 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21368769 "DO"]
synonym: "familial progressive hyperpigmentation" EXACT []
synonym: "familial progressive hyperpigmentation, 2" NARROW []
synonym: "FPH2" NARROW []
synonym: "FPHH" EXACT []
synonym: "melanosis universalis hereditaria" EXACT []
synonym: "MUH" EXACT []
xref: MESH:C564163
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9003984 ! Hyperpigmentation

[Term]
id: DOID:0111374
name: selective pituitary thyroid hormone resistance
alt_id: MIM:145650
def: "A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6798060 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8040303 "DO"]
synonym: "familial hyperthyroidism due to inappropriate thyrotropin secretion" EXACT []
synonym: "pituitary resistance to thyroid hormone" EXACT []
synonym: "PRTH" EXACT []
synonym: "selective pituitary resistance to thyroid hormone" EXACT []
synonym: "THRB-RELATED CONDITION" BROAD []
xref: MESH:C564154
xref: ORDO:165994
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:7998 ! hyperthyroidism

[Term]
id: DOID:0111375
name: fetal akinesia deformation sequence syndrome
def: "A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19261599 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22482962 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30498368 "DO"]
synonym: "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" EXACT []
synonym: "FADS" EXACT []
synonym: "fetal akinesia deformation sequence" EXACT []
synonym: "foetal akinesia deformation sequence syndrome" EXACT []
synonym: "foetal akinesia sequence" EXACT []
synonym: "Pena-Shokeir syndrome type 1" EXACT []
xref: GARD:9634
xref: MIM:PS208150
xref: NCI:C129071
xref: ORDO:994
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:225 ! syndrome
is_a: DOID:9002231 ! Fetal Growth Retardation
is_a: DOID:9008582 ! Developmental Disease

[Term]
id: DOID:0111376
name: fetal akinesia deformation sequence syndrome 3
def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19261599 "DO"]
synonym: "FADS3" EXACT []
synonym: "fetal akinesia deformation sequence 3" EXACT []
xref: MIM:618389
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome

[Term]
id: DOID:0111377
name: fetal akinesia deformation sequence syndrome 1
alt_id: MIM:208150
def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25537362 "DO"]
synonym: "arthrogryposis multiplex congenita, pulmonary hypoplasia" EXACT []
synonym: "Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings" EXACT []
synonym: "Arthrogryposis multiplex congenita with pulmonary hypoplasia" EXACT []
synonym: "FADS1" EXACT []
synonym: "Fetal Akinesia Deformation Sequence 1" EXACT []
synonym: "Fetal akinesia sequence" EXACT []
synonym: "Lethal Pena-Shokeir 1 syndrome" EXACT []
synonym: "Pena Shokeir Syndrome, Type 1" EXACT []
synonym: "Pena-Shokeir syndrome, type I" EXACT []
synonym: "RAPSN-related disorder" BROAD []
synonym: "RAPSN-related disorders" BROAD []
xref: MESH:C536647
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome

[Term]
id: DOID:0111378
name: fetal akinesia deformation sequence syndrome 2
def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18179903 "DO"]
synonym: "FADS2" EXACT []
synonym: "fetal akinesia deformation sequence 2" EXACT []
xref: MIM:618388
xref: MONDO:0100102
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome

[Term]
id: DOID:0111379
name: fetal akinesia deformation sequence syndrome 4
def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30543681 "DO"]
synonym: "FADS4" EXACT []
synonym: "fetal akinesia deformation sequence 4" EXACT []
xref: MIM:618393
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome

[Term]
id: DOID:0111380
name: solitary median maxillary central incisor
alt_id: MIM:147250
def: "A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11471164 "DO"]
synonym: "Fused incisors" EXACT []
synonym: "Single central maxillary incisor" EXACT []
synonym: "single median maxillary central incisor" EXACT []
synonym: "single upper central incisor" EXACT []
synonym: "SMMCI" EXACT []
synonym: "SMMCI syndrome" EXACT []
synonym: "solitary median maxillary central incisor syndrome" EXACT []
xref: GARD:4877
xref: MESH:C537342
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13714 ! anodontia

[Term]
id: DOID:0111381
name: IVIC syndrome
alt_id: MIM:147750
def: "A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17256792 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7395922 "DO"]
synonym: "Instituto Venezolano de Investigaciones Cientificas syndrome" EXACT []
synonym: "oculo-oto-radial syndrome" EXACT []
synonym: "oculootoradial syndrome" EXACT []
synonym: "OORS" EXACT []
synonym: "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" EXACT []
synonym: "SALL4-RELATED DISORDER" BROAD []
synonym: "SALL4-related spectrum disorder" BROAD []
synonym: "SALL4-related spectrum disorders" BROAD []
xref: GARD:269
xref: MESH:C535544
xref: ORDO:2307
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10488 ! imperforate anus
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:225 ! syndrome
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9006380 ! Bilateral Hearing Loss

[Term]
id: DOID:0111382
name: ischiocoxopodopatellar syndrome
alt_id: MIM:147891
def: "A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11303519 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15106123 "DO"]
synonym: "congenital coxa vara, patella aplasia and tarsal synostosis" EXACT []
synonym: "coxopodipatellar syndrome" EXACT []
synonym: "coxo-podo-patellar syndrome" EXACT []
synonym: "coxopodopatellar syndrome" EXACT []
synonym: "ICPPS" EXACT []
synonym: "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension" EXACT []
synonym: "ischiopatellar dysplasia" EXACT []
synonym: "patella aplasia, coxa vara, and tarsal synostosis" EXACT []
synonym: "patella aplasia, coxa vara, tarsal synostosis" EXACT []
synonym: "Scott-Taor syndrome" EXACT []
synonym: "small patella syndrome" EXACT []
synonym: "SPS" EXACT []
synonym: "TBX4-RELATED CONDITION" BROAD []
xref: GARD:3030
xref: MESH:C535540
xref: MESH:C536307
xref: ORDO:1509
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11971 ! synostosis
is_a: DOID:9005226 ! Coxa Vara

[Term]
id: DOID:0111383
name: autosomal dominant keratitis
alt_id: MIM:148190
def: "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7668281 "DO"]
synonym: "dominantly inherited keratitis" EXACT []
synonym: "hereditary keratitis" EXACT []
xref: GARD:3089
xref: MESH:C537022
xref: ORDO:2334
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4677 ! keratitis

[Term]
id: DOID:0111384
name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2
def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23455423 "DO"]
synonym: "IBMPFD2" EXACT []
synonym: "Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2" EXACT []
synonym: "MSP2" EXACT []
synonym: "MULTISYSTEM PROTEINOPATHY 2" EXACT []
xref: MIM:615422
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia

[Term]
id: DOID:0111385
name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1
def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15034582 "DO"]
synonym: "IBMPFD1" EXACT []
synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1" EXACT []
synonym: "MSP1" EXACT []
synonym: "multisystem proteinopathy 1" EXACT []
xref: MIM:167320
xref: NCI:C122663
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia

[Term]
id: DOID:0111386
name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23455423 "DO"]
synonym: "IBMPFD3" EXACT []
synonym: "Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 3" EXACT []
synonym: "MSP3" EXACT []
synonym: "MULTISYSTEM PROTEINOPATHY 3" EXACT []
xref: MIM:615424
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia

[Term]
id: DOID:0111387
name: familial isolated hypoparathyroidism
def: "A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11602629 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2212001 "DO"]
synonym: "FIH" EXACT []
synonym: "hypoparathyroidism, autosomal dominant" NARROW []
synonym: "hypoparathyroidism, autosomal recessive" NARROW []
xref: MESH:C537156
xref: MIM:PS146200
is_a: DOID:11199 ! hypoparathyroidism

[Term]
id: DOID:0111388
name: X-linked hypoparathyroidism
alt_id: MIM:307700
def: "A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14431322 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9832036 "DO"]
synonym: "agenesis of parathyroid glands" EXACT []
synonym: "HYPX" EXACT []
xref: MESH:C562782
xref: MESH:C563238
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:11199 ! hypoparathyroidism

[Term]
id: DOID:0111389
name: mucopolysaccharidosis Ih/s
def: "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10466419 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2128891 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7550242 "DO"]
synonym: "MPS1H/S" EXACT []
synonym: "MPS1-HS" EXACT []
synonym: "MPSIH/S" EXACT []
synonym: "MUCOPOLYSACCHARIDOSIS, MPS-I-H/S" EXACT []
synonym: "Mucopolysaccharidosis type 1H/S" EXACT []
synonym: "Mucopolysaccharidosis Type Ih S" EXACT []
synonym: "Mucopolysaccharidosis Type Ihs" EXACT []
xref: GARD:12560
xref: ICD10CM:E76.02
xref: MIM:607015
xref: NCI:C122782
xref: ORDO:93476
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12802 ! mucopolysaccharidosis I

[Term]
id: DOID:0111390
name: mucopolysaccharidosis Ih
alt_id: MIM:607014
def: "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3124802 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7550242 "DO"]
synonym: "dysostosis multiplex" EXACT []
synonym: "dysostosis multiplex syndrome" EXACT []
synonym: "Gargoylism" EXACT []
synonym: "Gargoylisms" EXACT []
synonym: "Hurler's Disease" EXACT []
synonym: "Hurler's Syndrome" EXACT []
synonym: "Hurler Disease" EXACT []
synonym: "Hurler disease MPS type 1H" EXACT []
synonym: "Hurler Syndrome" EXACT []
synonym: "Hurler Syndrome Gargoylism" EXACT []
synonym: "L-iduronidase deficiency, Hurler type" EXACT []
synonym: "MPS1-H" EXACT []
synonym: "MPS I - Hurler syndrome" EXACT []
synonym: "Mucopolysaccharidosis Type Ih" EXACT []
synonym: "mucopolysaccharidosis type I severe form" EXACT []
synonym: "Pfaundler-Hurler syndrome" EXACT []
xref: GARD:12559
xref: ICD10CM:E76.01
xref: NCI:C61261
xref: ORDO:93473
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12802 ! mucopolysaccharidosis I

[Term]
id: DOID:0111391
name: mucopolysaccharidosis IVA
def: "A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18412124 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7607677 "DO"]
synonym: "GALNS deficiencies" EXACT []
synonym: "GALNS Deficiency" EXACT []
synonym: "Morquio A Disease" EXACT []
synonym: "Morquio Syndrome A" EXACT []
synonym: "MPS4A" EXACT []
synonym: "MPS IV A" EXACT []
synonym: "MPS IVA" EXACT []
synonym: "MPS IV - Morquio syndrome A" EXACT []
synonym: "Mucopolysaccharidosis, MPS-IV-A" EXACT [SNOMEDCT_2005_07_31:7259005]
synonym: "Mucopolysaccharidosis Type IV A" EXACT []
synonym: "mucopolysaccharidosis type IVA" EXACT []
xref: GARD:3785
xref: ICD10CM:E76.210
xref: MIM:253000
xref: NCI:C84901
xref: ORDO:309297
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12804 ! mucopolysaccharidosis IV

[Term]
id: DOID:0111392
name: mucopolysaccharidosis type IVB
def: "A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1928092 "DO", https://www.ncbi.nlm.nih.gov/pubmed/817853 "DO"]
synonym: "beta-D-galactosidase deficiency" EXACT []
synonym: "Morquio's disease Type B" EXACT []
synonym: "Morquio disease B" EXACT []
synonym: "Morquio disease type B" EXACT []
synonym: "Morquio syndrome B" EXACT []
synonym: "Morquio Syndrome, Type B" EXACT []
synonym: "MPS4B" EXACT []
synonym: "MPS IV B" EXACT []
synonym: "MPS IVB" EXACT []
synonym: "MPS IV - Morquio syndrome B" EXACT []
synonym: "Mucopolysaccharidosis 4B" EXACT []
synonym: "mucopolysaccharidosis, MPS-IV-B" EXACT []
synonym: "mucopolysaccharidosis type IV B" EXACT []
synonym: "mucopolysaccharidosis type IVB (Morquio)" EXACT []
xref: ICD10CM:E76.211
xref: MIM:253010
xref: NCI:C84902
xref: ORDO:309310
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12804 ! mucopolysaccharidosis IV

[Term]
id: DOID:0111393
name: mucopolysaccharidosis type IIIC
def: "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16960811 "DO"]
synonym: "Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency" EXACT []
synonym: "heparan-alpha-glucosaminide N-acetyltransferase deficiency" EXACT []
synonym: "HGSNAT deficiency" EXACT []
synonym: "MPS 3 C" EXACT []
synonym: "MPS3C" EXACT []
synonym: "MPS III C" EXACT []
synonym: "MPS IIIC" EXACT []
synonym: "MPSIIIC" EXACT []
synonym: "MPS IIIC - Sanfilippo syndrome C" EXACT []
synonym: "MUCOPOLYSACCHARIDOSIS, MPS-III-C" EXACT []
synonym: "Mucopolysaccharidosis Type 3 C" EXACT []
synonym: "Mucopolysaccharidosis type 3C" EXACT []
synonym: "mucopolysaccharidosis type IIIC (Sanfilippo C)" EXACT []
synonym: "Sanfilippo syndrome C" EXACT []
synonym: "Sanfilippo syndrome type C" EXACT []
xref: GARD:7073
xref: MIM:252930
xref: NCI:C84899
xref: ORDO:79271
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12801 ! mucopolysaccharidosis III

[Term]
id: DOID:0111394
name: mucopolysaccharidosis type IIIB
def: "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15933803 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8650226 "DO"]
synonym: "MPS 3 B" EXACT []
synonym: "MPS3B" EXACT []
synonym: "MPS III B" EXACT []
synonym: "MPS IIIB" EXACT []
synonym: "MPSIIIB" EXACT []
synonym: "MPS IIIB - Sanfilippo syndrome B" EXACT []
synonym: "mucopolysaccharidosis IIIB" EXACT []
synonym: "mucopolysaccharidosis, MPS-III-B" EXACT []
synonym: "Mucopoly-saccharidosis type 3B" EXACT []
synonym: "Mucopolysaccharidosis Type 3 B" EXACT []
synonym: "mucopolysaccharidosis type 3B" EXACT []
synonym: "mucopolysaccharidosis type IIIB (Sanfilippo B)" EXACT []
synonym: "N-acetyl-alpha-glucosaminidase deficiency" EXACT []
synonym: "Sanfilippo syndrome B" EXACT []
synonym: "Sanfilippo syndrome type B" EXACT []
xref: GARD:7072
xref: ICD10CM:E76.22
xref: MIM:252920
xref: ORDO:79270
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12801 ! mucopolysaccharidosis III

[Term]
id: DOID:0111395
name: mucopolysaccharidosis type IIIA
def: "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6796310 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7493035 "DO"]
synonym: "heparan sulfamidase deficiency" EXACT []
synonym: "MPS 3 A" EXACT []
synonym: "MPS3A" EXACT []
synonym: "MPS III A" EXACT []
synonym: "MPS IIIA" EXACT []
synonym: "MPSIIIA" EXACT []
synonym: "MPS IIIA - Sanfilippo syndrome A" EXACT []
synonym: "mucopolysaccharidosis III-A" EXACT []
synonym: "mucopolysaccharidosis IIIA" EXACT []
synonym: "mucopolysaccharidosis, MPS-III-A" EXACT []
synonym: "mucopolysaccharidosis type 3 A" EXACT []
synonym: "mucopolysaccharidosis type 3A" EXACT []
synonym: "mucopolysaccharidosis type 3 A Sanfilippo syndrome" EXACT []
synonym: "mucopolysaccharidosis type IIIA (Sanfilippo A)" EXACT []
synonym: "Sanfilippo syndrome A" EXACT []
synonym: "Sanfilippo syndrome type A" EXACT []
xref: MIM:252900
xref: ORDO:79269
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12801 ! mucopolysaccharidosis III

[Term]
id: DOID:0111396
name: congenital dyserythropoietic anemia type I
def: "A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16098079 "DO"]
synonym: "CDA1" EXACT []
synonym: "CDA I" EXACT []
synonym: "CDA type 1" EXACT []
synonym: "CDA type I" EXACT []
synonym: "Congenital dyserythropoietic anaemia type 1" EXACT []
synonym: "congenital dyserythropoietic anaemia type I" EXACT []
synonym: "congenital dyserythropoietic anemia type 1" EXACT []
xref: GARD:2000
xref: MONDO:0020337
xref: ORDO:98869
is_a: DOID:1338 ! congenital dyserythropoietic anemia

[Term]
id: DOID:0111397
name: congenital dyserythropoietic anemia type Ib
def: "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23716552 "DO"]
synonym: "CDAN1B" EXACT []
synonym: "CDA, type Ib" EXACT []
xref: MIM:615631
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111396 ! congenital dyserythropoietic anemia type I

[Term]
id: DOID:0111398
name: congenital dyserythropoietic anemia type Ia
def: "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12434312 "DO"]
synonym: "CDA Ia" EXACT []
synonym: "CDAN1A" EXACT []
synonym: "CDA type Ia" EXACT []
xref: MIM:224120
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111396 ! congenital dyserythropoietic anemia type I

[Term]
id: DOID:0111399
name: congenital dyserythropoietic anemia type III
alt_id: MIM:105600
def: "A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7711721 "DO"]
synonym: "anaemia with multinucleated erythroblasts" EXACT []
synonym: "anemia with multinucleated erythroblasts" EXACT []
synonym: "CDA III" EXACT []
synonym: "CDAN3" EXACT []
synonym: "CDAN3A" EXACT []
synonym: "CDA type 3" EXACT []
synonym: "CDA type 3A" EXACT []
synonym: "CDA type III" EXACT []
synonym: "Congenital dyserythropoietic anaemia type 3" EXACT []
synonym: "congenital dyserythropoietic anaemia type III" EXACT []
synonym: "congenital dyserythropoietic anemia type 3" EXACT []
synonym: "congenital dyserythropoietic anemia type IIIA" EXACT []
synonym: "hereditary benign erythroreticulosis" EXACT []
synonym: "KIF23-RELATED CONDITION" EXACT []
xref: GARD:2002
xref: MESH:C566285
xref: ORDO:98870
is_a: DOID:1338 ! congenital dyserythropoietic anemia

[Term]
id: DOID:0111400
name: congenital dyserythropoietic anemia type IV
def: "A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21055716 "DO"]
synonym: "CDA due to KLF1 mutation" EXACT []
synonym: "CDA IV" EXACT []
synonym: "CDAN4" EXACT []
synonym: "CDA type 4" EXACT []
synonym: "CDA, type IV" EXACT []
synonym: "congenital dyserythropoietic anaemia due to KLF1 mutation" EXACT []
synonym: "congenital dyserythropoietic anaemia type 4" EXACT []
synonym: "congenital dyserythropoietic anaemia type IV" EXACT []
synonym: "congenital dyserythropoietic anemia due to KLF1 mutation" EXACT []
synonym: "congenital dyserythropoietic anemia, type 4" EXACT []
synonym: "KLF1-RELATED CONDITION" EXACT []
xref: MIM:613673
xref: MONDO:0013355
xref: NCI:C157148
xref: ORDO:293825
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1338 ! congenital dyserythropoietic anemia

[Term]
id: DOID:0111401
name: congenital dyserythropoietic anemia type II
def: "A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19561605 "DO"]
synonym: "CDA II" EXACT []
synonym: "CDAN2" EXACT []
synonym: "CDA type 2" EXACT []
synonym: "CDA type II" EXACT []
synonym: "congenital dyserythropoietic anaemia type 2" EXACT []
synonym: "congenital dyserythropoietic anaemia type II" EXACT []
synonym: "congenital dyserythropoietic anemia, type 2" EXACT []
synonym: "Dyserythropoietic Anemia, HEMPAS Type" EXACT []
synonym: "HEMPAS" EXACT []
synonym: "HEMPAS anemia" EXACT []
synonym: "HEMPAS anemias" EXACT []
synonym: "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" EXACT []
synonym: "hereditary erythroblastic multinuclearity with positive acidified-serum test" EXACT []
synonym: "hereditary erythroblast multinuclearity with positive acidified serum" EXACT []
synonym: "SEC23B-CDG" EXACT []
xref: GARD:2001
xref: MIM:224100
xref: NCI:C175991
xref: ORDO:98873
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1338 ! congenital dyserythropoietic anemia

[Term]
id: DOID:0111402
name: mucopolysaccharidosis type IIID
def: "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12573255 "DO"]
synonym: "GNS deficiency" EXACT []
synonym: "MPS 3 D" EXACT []
synonym: "MPS3D" EXACT []
synonym: "MPS III D" EXACT []
synonym: "MPS IIID" EXACT []
synonym: "MPS IIID - Sanfilippo syndrome D" EXACT []
synonym: "MUCOPOLYSACCHARIDOSIS, MPS-III-D" EXACT []
synonym: "Mucopolysaccharidosis type 3D" EXACT []
synonym: "mucopolysaccharidosis type 3 D" EXACT []
synonym: "N-acetylglucosamine-6-sulfatase deficiencies" EXACT []
synonym: "N-acetylglucosamine-6-sulfatase deficiency" EXACT []
synonym: "N-acetylglucosamine-6-sulfate sulfatase deficiencies" EXACT []
synonym: "N acetylglucosamine 6 sulfate sulfatase deficiency" EXACT []
synonym: "Sanfilippo syndrome D" EXACT []
synonym: "Sanfilippo syndrome type D" EXACT []
xref: GARD:7074
xref: MIM:252940
xref: NCI:C84900
xref: ORDO:79272
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12801 ! mucopolysaccharidosis III

[Term]
id: DOID:0111403
name: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations
def: "A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30449657 "DO"]
synonym: "MAST1-RELATED CONDITION" EXACT []
synonym: "MCCCHCM" EXACT []
xref: MIM:618273
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050888 ! syndromic intellectual disability
created_by: rgd
creation_date: 2017-10-18T11:02:58Z

[Term]
id: DOID:0111404
name: Jalili syndrome
alt_id: MIM:217080
def: "A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19200527 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3236352 "DO"]
synonym: "cone rod dystrophy-amelogenesis imperfecta syndrome" EXACT []
synonym: "cone-rod dystrophy and amelogenesis imperfecta" EXACT []
xref: GARD:1463
xref: MESH:C000596385
xref: ORDO:1873
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:2187 ! amelogenesis imperfecta
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0111405
name: Fraser syndrome 1
def: "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12766769 "DO"]
synonym: "CRYPTOPHTHALMOS SYNDROME" EXACT []
synonym: "FRAS1-RELATED CONDITION" EXACT []
synonym: "FRASRS1" EXACT []
xref: MIM:219000
is_a: DOID:0090001 ! Fraser syndrome

[Term]
id: DOID:0111406
name: Fraser syndrome 3
def: "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22510445 "DO"]
synonym: "FRASRS3" EXACT []
xref: MIM:617667
is_a: DOID:0090001 ! Fraser syndrome

[Term]
id: DOID:0111407
name: Fraser syndrome 2
def: "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15838507 "DO"]
synonym: "FRASRS2" EXACT []
synonym: "FREM2-RELATED CONDITION" BROAD []
xref: MIM:617666
is_a: DOID:0090001 ! Fraser syndrome

[Term]
id: DOID:0111408
name: exudative vitreoretinopathy 5
alt_id: MIM:613310
def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20159111 "DO"]
synonym: "EVR5" EXACT []
synonym: "TSPAN12-RELATED CONDITION" EXACT []
xref: MESH:C567648
is_a: DOID:0050535 ! exudative vitreoretinopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0111409
name: exudative vitreoretinopathy 3
alt_id: MIM:605750
def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11179025 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15665352 "DO"]
synonym: "EVR3" EXACT []
xref: MESH:C565297
is_a: DOID:0050535 ! exudative vitreoretinopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0111410
name: exudative vitreoretinopathy 6
def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23716654 "DO"]
synonym: "EVR6" EXACT []
xref: MIM:616468
is_a: DOID:0050535 ! exudative vitreoretinopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0111411
name: exudative vitreoretinopathy 4
alt_id: MIM:601813
def: "An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15024691 "DO"]
synonym: "EVR4" EXACT []
synonym: "exudative vitreoretinopathy 4, autosomal dominant" NARROW []
synonym: "exudative vitreoretinopathy 4, autosomal recessive" NARROW []
synonym: "exudative vitreoretinopathy 4, digenic" NARROW []
xref: MESH:C566619
is_a: DOID:0050535 ! exudative vitreoretinopathy
is_a: DOID:0050739 ! autosomal genetic disease

[Term]
id: DOID:0111412
name: exudative vitreoretinopathy 1
alt_id: MIM:133780
def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12172548 "DO"]
synonym: "Criswick-Schepens syndrome" EXACT []
synonym: "EVR1" EXACT []
synonym: "familial exudative vitreoretinopathy, autosomal dominant" EXACT []
synonym: "FEVR, autosomal dominant" EXACT []
synonym: "retinopathy of prematurity" NARROW []
synonym: "ROP" NARROW []
xref: MESH:C536382
xref: MONDO:0007589
xref: NCI:C175048
xref: ORDO:90050
is_a: DOID:0050535 ! exudative vitreoretinopathy
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0111413
name: X-linked exudative vitreoretinopathy 2
alt_id: MIM:305390
def: "An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8252044 "DO"]
synonym: "EVR2" EXACT []
synonym: "EVRX" EXACT []
synonym: "familial exudative vitreoretinopathy, 2" EXACT []
synonym: "familial exudative vitreoretinopathy, X-linked recessive" EXACT []
synonym: "FEVRX" EXACT []
synonym: "FEVR, X-Linked" EXACT []
synonym: "X-linked exudative vitreoretinopathy" EXACT []
xref: MESH:C564428
is_a: DOID:0050535 ! exudative vitreoretinopathy
is_a: DOID:0050735 ! X-linked monogenic disease

[Term]
id: DOID:0111414
name: trichohepatoenteric syndrome
def: "A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28944135 "DO"]
synonym: "fatal infantile diarrhea with trichorrhexis nodosa" EXACT []
synonym: "phenotypic diarrhea" EXACT []
synonym: "SD/THE" EXACT []
synonym: "syndromic diarrhea" EXACT []
synonym: "syndromic diarrhea/tricho-hepato-enteric syndrome" EXACT []
synonym: "THES" EXACT []
synonym: "THE syndrome" EXACT []
synonym: "tricho-hepato-enteric syndrome" EXACT []
xref: GARD:5258
xref: MESH:C565627
xref: MIM:PS222470
xref: ORDO:84064
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:421 ! hair disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9002231 ! Fetal Growth Retardation
is_a: DOID:9007847 ! Infantile Diarrhea

[Term]
id: DOID:0111415
name: trichohepatoenteric syndrome 1
def: "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20176027 "DO"]
synonym: "SKIC3-RELATED CONDITION" EXACT []
synonym: "THES1" EXACT []
xref: MIM:222470
is_a: DOID:0111414 ! trichohepatoenteric syndrome

[Term]
id: DOID:0111416
name: trichohepatoenteric syndrome 2
def: "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22444670 "DO"]
synonym: "SKIC2-RELATED CONDITION" EXACT []
synonym: "THES2" EXACT []
xref: MIM:614602
is_a: DOID:0111414 ! trichohepatoenteric syndrome

[Term]
id: DOID:0111417
name: familial chylomicronemia syndrome
def: "A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23525082 "DO"]
xref: ORDO:444490
is_a: DOID:1168 ! familial hyperlipidemia

[Term]
id: DOID:0111418
name: familial apolipoprotein C-II deficiency
def: "A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3467353 "DO"]
synonym: "APOC2 DEFICIENCY" EXACT []
synonym: "Apolipoprotein C-II Deficiencies" EXACT []
synonym: "Apolipoprotein C II Deficiency" EXACT []
synonym: "familial APOC2 deficiency" EXACT []
synonym: "familial apoC-II deficiency" EXACT []
synonym: "hyperlipoproteinemia, type 1b" EXACT []
synonym: "Hyperlipoproteinemia Type Ib" EXACT []
synonym: "Type Ib Hyperlipoproteinemias" EXACT []
xref: MIM:207750
xref: ORDO:309020
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111417 ! familial chylomicronemia syndrome

[Term]
id: DOID:0111419
name: familial chylomicronemia due to inhibition of lipoprotein lipase activity
alt_id: MIM:118830
def: "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6833877 "DO"]
synonym: "familial chylomicronemia due to circulating inhibitor of lipoprotein lipase" EXACT []
synonym: "hyperlipoproteinemia type 1C" EXACT []
synonym: "hyperlipoproteinemia type IC" EXACT []
xref: MESH:C566126
is_a: DOID:0111417 ! familial chylomicronemia syndrome
is_a: DOID:9007571 ! Hyperlipoproteinemias

[Term]
id: DOID:0111420
name: familial GPIHBP1 deficiency
def: "A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17883852 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23525082 "DO"]
synonym: "familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency" EXACT []
synonym: "hyperlipoproteinemia type 1D" EXACT []
synonym: "hyperlipoproteinemia type ID" EXACT []
xref: MIM:615947
xref: ORDO:535458
is_a: DOID:0111417 ! familial chylomicronemia syndrome
is_a: DOID:14118 ! familial lipoprotein lipase deficiency
is_a: DOID:9007571 ! Hyperlipoproteinemias

[Term]
id: DOID:0111421
name: familial apolipoprotein A5 deficiency
def: "A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16200213 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23525082 "DO"]
synonym: "familial APOA5 deficiency" EXACT []
synonym: "familial apolipoprotein A-V deficiency" EXACT []
xref: MIM:144650
xref: ORDO:530849
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111417 ! familial chylomicronemia syndrome

[Term]
id: DOID:0111422
name: familial lipase maturation factor 1 deficiency
alt_id: MIM:246650
def: "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17994020 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23525082 "DO"]
synonym: "combined lipase deficiency" EXACT []
synonym: "familial LMF1 deficiency" EXACT []
synonym: "Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency" EXACT []
synonym: "LMF1-RELATED CONDITION" EXACT []
synonym: "Lpl And Hl Deficiency" EXACT []
synonym: "Lpl And Htgl Deficiency" EXACT []
xref: MESH:C535904
xref: NCI:C126558
xref: ORDO:535453
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111417 ! familial chylomicronemia syndrome

[Term]
id: DOID:0111423
name: branchiootorenal syndrome 1
def: "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9020840 "DO"]
synonym: "BOR1" EXACT []
xref: MIM:113650
xref: MONDO:0007236
is_a: DOID:14702 ! branchiootorenal syndrome

[Term]
id: DOID:0111424
name: branchiootorenal syndrome 2
def: "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17357085 "DO"]
synonym: "BOR2" EXACT []
synonym: "SIX5-RELATED CONDITION" EXACT []
xref: MIM:610896
is_a: DOID:14702 ! branchiootorenal syndrome

[Term]
id: DOID:0111425
name: restrictive cardiomyopathy 1
def: "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12531876 "DO"]
synonym: "familial restrictive cardiomyopathy 1" EXACT []
synonym: "RCM1" EXACT []
xref: MESH:C566168
xref: MIM:115210
xref: MONDO:0007270
is_a: DOID:397 ! restrictive cardiomyopathy

[Term]
id: DOID:0111426
name: restrictive cardiomyopathy 2
alt_id: MIM:609578
def: "A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16061566 "DO"]
synonym: "familial restrictive cardiomyopathy 2" EXACT []
synonym: "RCM2" EXACT []
xref: MESH:C566512
is_a: DOID:397 ! restrictive cardiomyopathy

[Term]
id: DOID:0111427
name: restrictive cardiomyopathy 3
alt_id: MIM:612422
def: "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16651346 "DO"]
synonym: "familial restrictive cardiomyopathy 3" EXACT []
synonym: "RCM3" EXACT []
xref: MESH:C567316
is_a: DOID:397 ! restrictive cardiomyopathy

[Term]
id: DOID:0111428
name: essential tremor 1
alt_id: MIM:190300
def: "An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16650084 "DO"]
synonym: "ETM1" EXACT []
synonym: "familial essential tremor 1" EXACT []
synonym: "FET1" EXACT []
synonym: "HAND TREMOR" NARROW []
synonym: "Hereditary Essential Tremor, 1" EXACT []
xref: MESH:C536545
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4990 ! essential tremor

[Term]
id: DOID:0111429
name: essential tremor 2
alt_id: MIM:602134
def: "An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9399207 "DO"]
synonym: "ETM2" EXACT []
synonym: "hereditary essential tremor 2" EXACT []
xref: MESH:C536546
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2477 ! motor peripheral neuropathy
is_a: DOID:4990 ! essential tremor

[Term]
id: DOID:0111430
name: essential tremor 3
alt_id: MIM:611456
def: "An essential tremor that has_material_basis_in variation in a region on chromosome 6p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16702189 "DO"]
synonym: "ETM3" EXACT []
synonym: "hereditary essential tremor 3" EXACT []
xref: MESH:C566949
is_a: DOID:4990 ! essential tremor

[Term]
id: DOID:0111431
name: essential tremor 4
def: "An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22863194 "DO"]
synonym: "ETM4" EXACT []
synonym: "FUS-RELATED CONDITION" BROAD []
synonym: "hereditary essential tremor 4" EXACT []
xref: MIM:614782
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4990 ! essential tremor

[Term]
id: DOID:0111432
name: essential tremor 5
def: "An essential tremor that has_material_basis_in heterozygous mutation in the TENM4 gene on chromosome 11q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26188006 "DO"]
synonym: "ETM5" EXACT []
synonym: "hereditary essential tremor 5" EXACT []
xref: MIM:616736
xref: MONDO:0014756
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4990 ! essential tremor

[Term]
id: DOID:0111433
name: optic atrophy 3
alt_id: MIM:165300
def: "An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15342707 "DO"]
synonym: "ADOAC" EXACT []
synonym: "autosomal dominant optic atrophy type 3" EXACT []
synonym: "OPA3" EXACT []
synonym: "OPA3, autosomal dominant" EXACT []
synonym: "optic atrophy 3, autosomal dominant" EXACT []
synonym: "optic atrophy 3 with cataract" EXACT []
synonym: "optic atrophy and cataract, autosomal dominant" EXACT []
synonym: "optic atrophy, cataract, and neurologic disorder" EXACT []
xref: GARD:10203
xref: MESH:C537128
xref: ORDO:67036
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:83 ! cataract
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:0111434
name: optic atrophy 10
def: "An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26593267 "DO"]
synonym: "OPA10" EXACT []
synonym: "optic atrophy 10 with or without ataxia, impaired intellectual development and seizures" EXACT []
synonym: "optic atrophy 10 with or without ataxia, mental retardation, and seizures" EXACT []
synonym: "RTN4IP1-RELATED CONDITION" EXACT []
xref: MIM:616732
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:0111435
name: optic atrophy 6
alt_id: MIM:258500
def: "An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14508503 "DO"]
synonym: "OPA6" EXACT []
synonym: "Optic atrophy, congenital or early infantile, autosomal recessive" EXACT []
xref: MESH:C537127
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:0111436
name: optic atrophy 11
def: "An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27495975 "DO"]
synonym: "OPA11" EXACT []
xref: MIM:617302
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:0111437
name: optic atrophy 7
alt_id: MIM:612989
def: "An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19327736 "DO"]
synonym: "OPA7" EXACT []
synonym: "optic atrophy 7 with or without auditory neuropathy" EXACT []
xref: MESH:C567833
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:0111438
name: optic atrophy 5
alt_id: MIM:610708
def: "An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28969390 "DO"]
synonym: "DNM1L-RELATED DISORDERS" BROAD []
synonym: "OPA5" EXACT []
xref: MESH:C537126
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:0111439
name: optic atrophy 8
def: "An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21349918 "DO"]
synonym: "OPA8" EXACT []
xref: MIM:616648
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:0111440
name: optic atrophy 4
alt_id: MIM:605293
def: "An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10369594 "DO"]
synonym: "OPA4" EXACT []
xref: MESH:C565343
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:0111441
name: optic atrophy 1
alt_id: MIM:165500
def: "An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11017079 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11017080 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9514489 "DO"]
synonym: "autosomal dominant optic atrophy Kjer type" EXACT []
synonym: "dominant optic atrophies" EXACT []
synonym: "Dominant Optic Atrophy" EXACT []
synonym: "hereditary optic atrophy, autosomal dominant" EXACT []
synonym: "hereditary optic atrophy, dominant" EXACT []
synonym: "Juvenile Optic Atrophies" EXACT []
synonym: "Juvenile Optic Atrophy" EXACT []
synonym: "Kjer's Optic Atrophy" EXACT []
synonym: "Kjer Optic Atrophy" EXACT []
synonym: "Kjers Optic Atrophy" EXACT []
synonym: "Kjer-Type Optic Atrophies" EXACT []
synonym: "Kjer Type Optic Atrophy" EXACT []
synonym: "OAK" EXACT []
synonym: "OPA1" EXACT []
synonym: "optic atrophy, autosomal dominant" EXACT []
synonym: "optic atrophy type 1" EXACT []
xref: MESH:D029241
xref: NCI:C169000
xref: NCI:C84577
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:0111442
name: optic atrophy 9
def: "An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25351951 "DO"]
synonym: "ACO2-RELATED CONDITION" BROAD []
synonym: "ACO2-RELATED DISORDER" BROAD []
synonym: "OPA9" EXACT []
synonym: "OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE" NARROW []
xref: MIM:616289
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:0111443
name: optic atrophy 2
alt_id: MIM:311050
def: "An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9382106 "DO"]
synonym: "OPA2" EXACT []
synonym: "OPTIC ATROPHY, NON-LEBER TYPE, WITH EARLY ONSET" EXACT []
synonym: "X-linked optic atrophy" EXACT []
synonym: "X-linked optic atrophy 2" EXACT []
xref: MESH:C537125
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:0111444
name: progressive myoclonus epilepsy 4
def: "A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15364701 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19847901 "DO"]
synonym: "action myoclonus-renal failure syndrome" EXACT []
synonym: "AMRF" EXACT []
synonym: "EPM4" EXACT []
synonym: "myoclonus nephropathy syndrome" EXACT []
synonym: "myoclonus-nephropathy syndromes" EXACT []
synonym: "progressive myoclonic epilepsy 4" EXACT []
synonym: "progressive myoclonic epilepsy 4, with or without renal failure" EXACT []
xref: MIM:254900
xref: ORDO:163696
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1074 ! kidney failure
is_a: DOID:891 ! progressive myoclonus epilepsy

[Term]
id: DOID:0111445
name: progressive myoclonus epilepsy 10
def: "A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22961547 "DO"]
synonym: "early-onset Lafora body disease" EXACT []
synonym: "EPM10" EXACT []
synonym: "progressive myoclonic epilepsy 10" EXACT []
xref: MIM:616640
xref: ORDO:324290
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:891 ! progressive myoclonus epilepsy

[Term]
id: DOID:0111446
name: progressive myoclonus epilepsy 3
alt_id: MIM:611726
def: "A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17455289 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22748208 "DO"]
synonym: "CLN14" EXACT []
synonym: "CLN14 disease" EXACT []
synonym: "EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH INTRACELLULAR INCLUSIONS" NARROW []
synonym: "Epilepsy, Progressive Myoclonic, 3, with or without Intracellular Inclusions" EXACT []
synonym: "EPM3" EXACT []
synonym: "neuronal ceroid lipofuscinosis 14" EXACT []
synonym: "PME type 3" EXACT []
synonym: "Progressive Myoclonic Epilepsy 3" EXACT []
synonym: "Progressive myoclonic epilepsy due to KCTD7 deficiency" EXACT []
synonym: "progressive myoclonus epilepsy type 3" EXACT []
xref: GARD:2167
xref: MESH:C567095
xref: ORDO:263516
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:891 ! progressive myoclonus epilepsy

[Term]
id: DOID:0111447
name: progressive myoclonus epilepsy 7
def: "A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25401298 "DO"]
synonym: "EPM7" EXACT []
synonym: "KCNC1-RELATED CONDITION" EXACT []
synonym: "MEAK" EXACT []
synonym: "myoclonus epilepsy and ataxia due to potassium channel mutation" EXACT []
synonym: "PME type 7" EXACT []
synonym: "progressive myoclonic epilepsy 7" EXACT []
synonym: "Progressive myoclonic epilepsy due to KV3.1 deficiency" EXACT []
synonym: "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7" EXACT []
synonym: "progressive myoclonus epilepsy type 7" EXACT []
xref: MIM:616187
xref: NCI:C142804
xref: ORDO:435438
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:891 ! progressive myoclonus epilepsy

[Term]
id: DOID:0111448
name: progressive myoclonus epilepsy 1B
def: "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18976727 "DO"]
synonym: "Epilepsy, progressive myoclonic 1B" EXACT []
synonym: "EPM1B" EXACT []
synonym: "Pme with Ataxia" EXACT []
synonym: "PRICKLE1-related progressive myoclonic epilepsy with ataxia" EXACT []
synonym: "PRICKLE1-related progressive myoclonus epilepsy with ataxia" EXACT []
synonym: "progressive myoclonus epilepsy with ataxia" EXACT []
xref: MESH:C580388
xref: MIM:612437
xref: MONDO:0012904
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3535 ! Unverricht-Lundborg syndrome
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:0111449
name: progressive myoclonus epilepsy 6
def: "A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21549339 "DO"]
synonym: "EPM6" EXACT []
synonym: "GOSR2-related progressive myoclonus ataxia" EXACT []
synonym: "North Sea progressive myoclonus epilepsy" EXACT []
synonym: "PME type 6" EXACT []
synonym: "progressive myoclonic epilepsy 6" EXACT []
synonym: "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6" EXACT []
synonym: "progressive myoclonus epilepsy type 6" EXACT []
xref: GARD:3872
xref: MIM:614018
xref: ORDO:280620
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:891 ! progressive myoclonus epilepsy

[Term]
id: DOID:0111450
name: progressive myoclonus epilepsy 9
def: "A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25954030 "DO"]
synonym: "EMP9" EXACT []
synonym: "EPM9" EXACT []
synonym: "PME type 9" EXACT []
synonym: "progressive myoclonic epilepsy 9" EXACT []
synonym: "progressive myoclonic epilepsy due to LMNB2 deficiency" EXACT []
synonym: "progressive myoclonic epilepsy type 9" EXACT []
synonym: "progressive myoclonus epilepsy type 9" EXACT []
xref: MIM:616540
xref: ORDO:457265
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:891 ! progressive myoclonus epilepsy

[Term]
id: DOID:0111451
name: progressive myoclonus epilepsy 8
def: "A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19243074 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24782409 "DO"]
synonym: "EMP8" EXACT []
synonym: "EPM8" EXACT []
synonym: "PME type 8" EXACT []
synonym: "progressive myoclonic epilepsy 8" EXACT []
synonym: "progressive myoclonic epilepsy due to CERS1 deficiency" EXACT []
synonym: "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8" EXACT []
synonym: "progressive myoclonus epilepsy type 8" EXACT []
xref: MIM:616230
xref: ORDO:424027
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:891 ! progressive myoclonus epilepsy

[Term]
id: DOID:0111452
name: progressive myoclonus epilepsy 1A
def: "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8596935 "DO"]
synonym: "EPM1A" EXACT []
xref: MIM:254800
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3535 ! Unverricht-Lundborg syndrome

[Term]
id: DOID:0111453
name: 2-aminoadipic 2-oxoadipic aciduria
def: "An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23141293 "DO"]
synonym: "2-ketoadipic aciduria" EXACT []
synonym: "AAKAD" EXACT []
synonym: "alpha-aminoadipic aciduria" EXACT []
synonym: "alpha-aminoadipic and alpha-ketoadipic aciduria" EXACT []
synonym: "aminoadipic aciduria" EXACT []
synonym: "AMOXAD" EXACT []
synonym: "DHTKD1-RELATED CONDITION" BROAD []
xref: MIM:204750
xref: ORDO:79154
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0111454
name: SHORT syndrome
alt_id: MIM:269880
def: "A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. (DO)" [https://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay "DO", https://www.ncbi.nlm.nih.gov/pubmed/23810382 "DO"]
synonym: "Aarskog-Ose-Pande syndrome" EXACT []
synonym: "lipodystrophy-Rieger anomaly-diabetes syndrome" EXACT []
synonym: "partial lipodystrophy with Rieger anomaly and short stature" EXACT []
synonym: "Rieger anomaly-partial lipodystrophy syndrome" EXACT []
synonym: "short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay" EXACT []
xref: GARD:7633
xref: MESH:C537327
xref: ORDO:3163
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12678 ! hypercalcemia
is_a: DOID:12679 ! nephrocalcinosis
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:0111455
name: GRACILE syndrome
alt_id: MIM:603358
def: "A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12215968 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9482441 "DO"]
synonym: "BCS1L-related disorder" BROAD []
synonym: "Fellman disease" EXACT []
synonym: "Fellman syndrome" EXACT []
synonym: "Finnish lactic acidosis with hepatic hemosiderosis" EXACT []
synonym: "Finnish Lethal Neonatal Metabolic Syndrome" EXACT []
synonym: "FLNMS" EXACT []
synonym: "growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT []
synonym: "growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT []
synonym: "growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death" EXACT []
synonym: "neonatal lactic acidosis" NARROW []
xref: GARD:1
xref: MESH:C537934
xref: MONDO:0011308
xref: ORDO:53693
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12119 ! hemosiderosis
is_a: DOID:13580 ! cholestasis
is_a: DOID:225 ! syndrome
is_a: DOID:3650 ! lactic acidosis
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9002207 ! Renal Aminoacidurias
is_a: DOID:9002231 ! Fetal Growth Retardation

[Term]
id: DOID:0111456
name: Kaufman oculocerebrofacial syndrome
alt_id: MIM:244450
def: "A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11. (DO)" [https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23200864 "DO"]
synonym: "blepharophimosis-ptosis-intellectual disability syndrome" EXACT []
synonym: "blepharophimosis-ptosis-mental retardation syndrome" EXACT []
synonym: "BPIDS" EXACT []
synonym: "BPID syndrome" EXACT []
synonym: "KOS" EXACT []
synonym: "oculocerebrofacial syndrome, Kaufman type" EXACT []
xref: GARD:3084
xref: MESH:C537013
xref: ORDO:2707
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050888 ! syndromic intellectual disability
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:0111457
name: STING-associated vasculopathy with onset in infancy
def: "An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25029335 "DO"]
synonym: "SAVI" EXACT []
synonym: "STING-associated vasculopathy, infantile-onset" EXACT []
xref: GARD:12357
xref: MIM:615934
xref: NCI:C177547
xref: ORDO:425120
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060051 ! autoimmune disease of cardiovascular system
is_a: DOID:178 ! vascular disease
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases

[Term]
id: DOID:0111458
name: galactose epimerase deficiency
def: "A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8593531 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9700591 "DO"]
synonym: "epimerase deficiency galactosemia" EXACT []
synonym: "epimerase deficiency galactosemias" EXACT []
synonym: "GALAC3" EXACT []
synonym: "galactose epimerase deficiencies" EXACT []
synonym: "Galactosemia 3" EXACT []
synonym: "Galactosemia III" EXACT []
synonym: "galactosemia type 3" EXACT []
synonym: "GALE-D" EXACT []
synonym: "GALE Deficiencies" EXACT []
synonym: "GALE Deficiency" EXACT []
synonym: "UDP-Galactose-4-Epimerase Deficiencies" EXACT []
synonym: "UDP Galactose 4 Epimerase Deficiency" EXACT []
synonym: "UDP Galactose 4 Epimerase Deficiency Disease" EXACT []
synonym: "UDP-galactose-4-epimerase deficiency diseases" EXACT []
synonym: "UDPglucose-4-epimerase deficiency" EXACT []
synonym: "UDPglucose-4-epimerase deficiency disease" EXACT []
synonym: "uridine diphosphate galactose-4-epimerase deficiency" EXACT []
xref: GARD:5392
xref: MIM:230350
xref: ORDO:79238
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9870 ! galactosemia

[Term]
id: DOID:0111459
name: classic galactosemia
def: "A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11261429 "DO"]
synonym: "classic galactosemias" EXACT []
synonym: "GALAC1" EXACT []
synonym: "Galactose-1-Phosphate Uridyltransferase Deficiencies" EXACT []
synonym: "Galactose 1 Phosphate Uridyltransferase Deficiency" EXACT []
synonym: "Galactose 1 Phosphate Uridyl Transferase Deficiency Disease" EXACT []
synonym: "Galactose 1 Phosphate Uridylyltransferase Deficiency" EXACT []
synonym: "galactosemia I" EXACT []
synonym: "galactosemia type 1" EXACT []
synonym: "GALT deficiencies" EXACT []
synonym: "GALT deficiency" EXACT []
synonym: "GALT-RELATED CONDITION" EXACT []
xref: GARD:13639
xref: MIM:230400
xref: NCI:C99104
xref: ORDO:79239
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9870 ! galactosemia

[Term]
id: DOID:0111460
name: cardiofaciocutaneous syndrome 1
def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16474404 "DO"]
synonym: "CFC1" EXACT []
xref: MIM:115150
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060233 ! cardiofaciocutaneous syndrome

[Term]
id: DOID:0111461
name: cardiofaciocutaneous syndrome 2
def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16474404 "DO"]
synonym: "CFC2" EXACT []
xref: MIM:615278
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060233 ! cardiofaciocutaneous syndrome

[Term]
id: DOID:0111462
name: cardiofaciocutaneous syndrome 3
def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16439621 "DO"]
synonym: "CFC3" EXACT []
synonym: "MAP2K1-RELATED DISORDER" BROAD []
xref: MIM:615279
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060233 ! cardiofaciocutaneous syndrome

[Term]
id: DOID:0111463
name: cardiofaciocutaneous syndrome 4
def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20358587 "DO"]
synonym: "CFC4" EXACT []
synonym: "MAP2K2-RELATED CONDITION" EXACT []
xref: MIM:615280
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060233 ! cardiofaciocutaneous syndrome

[Term]
id: DOID:0111464
name: combined oxidative phosphorylation deficiency 35
def: "A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24901367 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28185376 "DO"]
synonym: "COXPD35" EXACT []
synonym: "TRIT1 DEFICIENCY" EXACT []
xref: MIM:617873
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111465
name: combined oxidative phosphorylation deficiency 21
def: "A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24827421 "DO"]
synonym: "COXPD21" EXACT []
xref: EFO:0009032
xref: MIM:615918
xref: MONDO:0014398
xref: ORDO:420733
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111466
name: combined oxidative phosphorylation deficiency 38
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30358850 "DO"]
synonym: "COXPD38" EXACT []
xref: MIM:618378
xref: MONDO:0032712
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: rgd
creation_date: 2018-02-07T15:36:47Z

[Term]
id: DOID:0111467
name: combined oxidative phosphorylation deficiency 13
def: "A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23084291 "DO"]
synonym: "COXPD13" EXACT []
xref: MIM:614932
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111468
name: combined oxidative phosphorylation deficiency 25
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25754315 "DO"]
synonym: "COXPD25" EXACT []
xref: EFO:0009035
xref: MIM:616430
xref: ORDO:447954
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111469
name: combined oxidative phosphorylation deficiency 16
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23315540 "DO"]
synonym: "COXPD16" EXACT []
synonym: "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency" EXACT []
xref: GARD:12892
xref: MIM:615395
xref: ORDO:352563
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111470
name: combined oxidative phosphorylation deficiency 28
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27132592 "DO"]
synonym: "COXPD28" EXACT []
synonym: "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect" EXACT []
xref: MIM:616794
xref: ORDO:466784
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2019-02-27T09:30:20Z

[Term]
id: DOID:0111471
name: combined oxidative phosphorylation deficiency 30
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27132592 "DO"]
synonym: "COXPD30" EXACT []
xref: EFO:0009038
xref: MIM:616974
xref: ORDO:478042
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111472
name: combined oxidative phosphorylation deficiency 9
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21786366 "DO"]
synonym: "COXPD9" EXACT []
xref: MIM:614582
xref: ORDO:319509
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111473
name: combined oxidative phosphorylation deficiency 5
alt_id: MIM:611719
def: "A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17873122 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21189481 "DO"]
synonym: "COXPD5" EXACT []
synonym: "hypotonia with lactic acidemia and hyperammonemia" EXACT []
xref: MESH:C567126
xref: ORDO:137908
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111474
name: combined oxidative phosphorylation deficiency 1
alt_id: MIM:609060
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. (DO)" [https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1 "DO"]
synonym: "COXPD1" EXACT []
synonym: "early fatal progressive hepatoencephalopathy" EXACT []
synonym: "GFM1-RELATED CONDITION" EXACT []
synonym: "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" EXACT []
synonym: "hepatoencephalopathy due to COXPD1" EXACT []
xref: MESH:C563797
xref: NCI:C125663
xref: ORDO:137681
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
is_a: DOID:13413 ! hepatic encephalopathy

[Term]
id: DOID:0111475
name: combined oxidative phosphorylation deficiency 39
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22700954 "DO"]
synonym: "COXPD39" EXACT []
xref: MIM:618397
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111476
name: combined oxidative phosphorylation deficiency 19
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23814038 "DO"]
synonym: "COXPD19" EXACT []
synonym: "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency" EXACT []
xref: MIM:615595
xref: ORDO:397593
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111477
name: combined oxidative phosphorylation deficiency 14
def: "A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22499341 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22833457 "DO"]
synonym: "COXPD14" EXACT []
xref: MIM:614946
xref: ORDO:319519
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111478
name: combined oxidative phosphorylation deficiency 20
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25058219 "DO"]
synonym: "COXPD20" EXACT []
synonym: "VARS2-RELATED CONDITION" EXACT []
synonym: "VARS2-RELATED DISORDERS" EXACT []
xref: MIM:615917
xref: ORDO:420728
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111479
name: combined oxidative phosphorylation deficiency 8
def: "A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21549344 "DO"]
synonym: "COXPD8" EXACT []
synonym: "fatal infantile mitochondrial cardiomyopathy" EXACT []
synonym: "hypertrophic mitochondrial cardiomyopathy, fatal infantile" EXACT []
xref: MIM:614096
xref: NCI:C180851
xref: ORDO:319504
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111480
name: combined oxidative phosphorylation deficiency 10
def: "A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22608499 "DO"]
synonym: "COXPD10" EXACT []
synonym: "infantile hypertrophic mitochondrial cardiomyopathy, and lactic acidosis" EXACT []
synonym: "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" EXACT []
xref: MIM:614702
xref: ORDO:314637
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111481
name: combined oxidative phosphorylation deficiency 11
def: "A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23022099 "DO"]
synonym: "COXPD11" EXACT []
synonym: "infantile encephaloneuromyopathy, due to mitochondrial translation defect" EXACT []
xref: MIM:614922
xref: ORDO:324535
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111482
name: combined oxidative phosphorylation deficiency 36
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29576219 "DO"]
synonym: "COXPD36" EXACT []
xref: MIM:617950
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111483
name: combined oxidative phosphorylation deficiency 2
alt_id: MIM:610498
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15505824 "DO"]
synonym: "agenesis of corpus callosum with dysmorphism and fatal lactic acidosis" EXACT []
synonym: "COXPD2" EXACT []
xref: MESH:C566468
xref: ORDO:254920
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
is_a: DOID:3650 ! lactic acidosis
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0111484
name: combined oxidative phosphorylation deficiency 18
def: "A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24119684 "DO"]
synonym: "COXPD18" EXACT []
synonym: "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome" EXACT []
xref: MIM:615578
xref: ORDO:391348
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111485
name: combined oxidative phosphorylation deficiency 24
def: "A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25385316 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25629079 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28077841 "DO"]
synonym: "COXPD24" EXACT []
xref: EFO:0009034
xref: MIM:616239
xref: ORDO:444458
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111486
name: combined oxidative phosphorylation deficiency 3
alt_id: MIM:610505
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17033963 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25037205 "DO"]
synonym: "concentric cardiomyopathy, hypotonia, and lactic acidosis" EXACT []
synonym: "COXPD3" EXACT []
synonym: "encephalomyopathy, respiratory failure, and lactic acidosis" EXACT []
synonym: "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3" EXACT []
synonym: "fatal mitochondrial disease due to COXPD3" EXACT []
xref: MESH:C566467
xref: ORDO:168566
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
is_a: DOID:3650 ! lactic acidosis
is_a: DOID:699 ! mitochondrial myopathy
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: mtutaj
creation_date: 2019-03-26T09:16:15Z

[Term]
id: DOID:0111487
name: combined oxidative phosphorylation deficiency 7
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20598281 "DO"]
synonym: "COXPD7" EXACT []
synonym: "severe C12ORF65-related combined oxidative phosphorylation defect" EXACT []
synonym: "severe C12ORF65-related COXPD" EXACT []
xref: MIM:613559
xref: ORDO:254930
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
is_a: DOID:890 ! mitochondrial encephalomyopathy

[Term]
id: DOID:0111488
name: combined oxidative phosphorylation deficiency 31
def: "A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27799064 "DO"]
synonym: "COXPD31" EXACT []
synonym: "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome" EXACT []
xref: MIM:617228
xref: ORDO:478049
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111489
name: combined oxidative phosphorylation deficiency 27
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25361775 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25787132 "DO"]
synonym: "COXPD27" EXACT []
xref: EFO:0009037
xref: MIM:616672
xref: NCI:C185238
xref: ORDO:477774
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111490
name: combined oxidative phosphorylation deficiency 26
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26189817 "DO"]
synonym: "COXPD26" EXACT []
synonym: "peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay" EXACT []
synonym: "PNSED" EXACT []
xref: EFO:0009036
xref: MIM:616539
xref: ORDO:477684
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111491
name: combined oxidative phosphorylation deficiency 15
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21907147 "DO"]
synonym: "COXPD15" EXACT []
xref: MIM:614947
xref: ORDO:319524
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111492
name: combined oxidative phosphorylation deficiency 32
def: "A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28777931 "DO"]
synonym: "COXPD32" EXACT []
xref: MIM:617664
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111493
name: combined oxidative phosphorylation deficiency 12
def: "A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22492562 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23008233 "DO"]
synonym: "COXPD12" EXACT []
synonym: "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" EXACT []
synonym: "leukoencephalopathy with thalamus and brainstem involvement and high lactate" EXACT []
synonym: "LTBL" EXACT []
xref: GARD:13381
xref: MIM:614924
xref: ORDO:314051
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
is_a: DOID:9002704 ! Leukoencephalopathies

[Term]
id: DOID:0111494
name: combined oxidative phosphorylation deficiency 4
alt_id: MIM:610678
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17160893 "DO"]
synonym: "COXPD4" EXACT []
xref: MESH:C565690
xref: ORDO:254925
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111495
name: combined oxidative phosphorylation deficiency 33
alt_id: RDO:9005147
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28942965 "DO"]
synonym: "COXPD33" EXACT []
xref: EFO:0009159
xref: MIM:617713
xref: NCI:C174440
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111496
name: combined oxidative phosphorylation deficiency 17
def: "A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23849775 "DO"]
synonym: "COXPD17" EXACT []
xref: MIM:615440
xref: ORDO:369913
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111497
name: combined oxidative phosphorylation deficiency 34
def: "A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25556185 "DO"]
synonym: "COXPD34" EXACT []
synonym: "syndromic sensorineural deafness due to combined oxidative phosphorylation defect" EXACT []
synonym: "syndromic sensorineural deafness due to COXPD" EXACT []
synonym: "syndromic sensorineural hearing loss due to COXPD" EXACT []
xref: MIM:617872
xref: MONDO:0054741
xref: ORDO:457223
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111498
name: combined oxidative phosphorylation deficiency 22
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23596069 "DO"]
synonym: "ATP5F1A-RELATED CONDITION" BROAD []
synonym: "COXPD22" EXACT []
xref: MIM:616045
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111499
name: combined oxidative phosphorylation deficiency 37
def: "A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27485409 "DO"]
synonym: "COXPD37" EXACT []
synonym: "MITOCHONDRIAL HEPATO-ENCEPHALOPATHY" EXACT []
xref: MIM:618329
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111500
name: combined oxidative phosphorylation deficiency 23
def: "A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25434004 "DO"]
synonym: "COXPD23" EXACT []
xref: EFO:0009033
xref: MIM:616198
xref: NCI:C187986
xref: ORDO:444013
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111501
name: combined oxidative phosphorylation deficiency 29
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26626369 "DO"]
synonym: "COXPD29" EXACT []
xref: MIM:616811
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency

[Term]
id: DOID:0111502
name: combined oxidative phosphorylation deficiency 6
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20362274 "DO"]
synonym: "COXPD6" EXACT []
synonym: "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" EXACT []
synonym: "mitochondrial encephalomyopathy due to COXPD6" EXACT []
synonym: "severe X-linked mitochondrial encephalomyopathy" EXACT []
synonym: "X-linked mitochondrial encephalomyopathy" EXACT []
xref: MIM:300816
xref: ORDO:238329
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:890 ! mitochondrial encephalomyopathy

[Term]
id: DOID:0111503
name: Li-Fraumeni syndrome 1
alt_id: DOID:9004131
alt_id: MESH:C563754
alt_id: MIM:151623
def: "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1978757 "DO"]
synonym: "LFL" NARROW []
synonym: "LFS1" EXACT []
synonym: "LFS3" RELATED []
synonym: "Li-Fraumeni -like syndrome" NARROW []
synonym: "Li-Fraumeni syndrome 3" RELATED []
xref: MESH:C538639
is_a: DOID:3012 ! Li-Fraumeni syndrome

[Term]
id: DOID:0111504
name: Li-Fraumeni syndrome 2
alt_id: MIM:609265
def: "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11479205 "DO"]
synonym: "Breast and colorectal cancer, susceptibility to" RELATED []
synonym: "cancer predisposition syndrome, CHEK2-related" EXACT []
synonym: "LFS2" EXACT []
synonym: "TPDS4" EXACT []
synonym: "tumor predisposition syndrome 4" EXACT []
synonym: "tumor predisposition syndrome 4, breast/prostate/colorectal" EXACT []
xref: MESH:C563755
is_a: DOID:3012 ! Li-Fraumeni syndrome
is_a: DOID:9001329 ! Tumor Predisposition Syndrome

[Term]
id: DOID:0111505
name: palmoplantar keratoderma-deafness syndrome
alt_id: MIM:148350
def: "A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10633135 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1532426 "DO"]
synonym: "diffuse palmoplantar keratoderma with deafness" EXACT []
synonym: "focal palmoplantar keratoderma with sensorineural deafness" EXACT []
synonym: "HEREDITARY PALMOPLANTAR KERATODERMA" NARROW []
synonym: "Hereditary palmoplantar keratoderma with deafness" EXACT []
synonym: "Keratoderma palmoplantar deafness" EXACT []
synonym: "Palmoplantar Hyperkeratosis-Deafness Syndrome" EXACT []
synonym: "Palmoplantar Hyperkeratosis-Hearing Loss Syndrome" EXACT []
synonym: "Palmoplantar keratoderma and sensorineural deafness" EXACT []
synonym: "Palmoplantar Keratoderma-Hearing Loss Syndrome" EXACT []
synonym: "Palmoplantar Keratoderma with Deafness" EXACT []
synonym: "PPK-deafness syndrome" EXACT []
synonym: "PPK with deafness" EXACT []
xref: GARD:3094
xref: MESH:C536152
xref: ORDO:2202
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:3390 ! palmoplantar keratosis

[Term]
id: DOID:0111506
name: palmoplantar keratoderma-esophageal carcinoma syndrome
def: "A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13579162 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22265016 "DO"]
synonym: "Bennion-Patterson syndrome" EXACT []
synonym: "Howell Evans syndrome" EXACT []
synonym: "keratosis palmaris et plantaris with esophageal cancer" EXACT []
synonym: "keratosis palmoplantaris-esophageal carcinoma syndrome" EXACT []
synonym: "keratosis palmoplantaris with esophageal cancer" EXACT []
synonym: "palmoplantar hyperkeratosis-esophageal carcinoma syndrome" EXACT []
synonym: "palmoplantar keratoderma with esophageal cancer" EXACT []
synonym: "TOC" EXACT []
synonym: "tylosis-oesophageal carcinoma syndrome" EXACT []
synonym: "tylosis with esophageal cancer" EXACT []
xref: GARD:3102
xref: MESH:C536164
xref: MIM:148500
xref: MONDO:0007856
xref: ORDO:2198
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:5041 ! esophageal cancer

[Term]
id: DOID:0111507
name: Lenz-Majewski hyperostotic dwarfism
alt_id: MIM:151050
def: "A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24241535 "DO"]
synonym: "delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis" EXACT []
synonym: "Lenz-Majewski hyperostosis syndrome" EXACT []
synonym: "Lenz-Majewski syndrome" EXACT []
synonym: "LMHD" EXACT []
synonym: "multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis" EXACT []
xref: GARD:3223
xref: MESH:C537115
xref: ORDO:2658
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0111508
name: Torrance type platyspondylic dysplasia
alt_id: MIM:151210
def: "An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14729840 "DO", https://www.ncbi.nlm.nih.gov/pubmed/448481 "DO"]
synonym: "lethal short-limbed platyspondylic dwarfism, Torrance type" EXACT []
synonym: "lethal skeletal dysplasia" EXACT []
synonym: "Platyspondylic Chondrodysplasia, Torrance-Luton Type" EXACT []
synonym: "platyspondylic dysplasia, Torrance-Luton type" EXACT []
synonym: "Platyspondylic Lethal Skeletal Dysplasia, Luton Type" RELATED []
synonym: "Platyspondylic Lethal Skeletal Dysplasia, Torrance Type" EXACT []
synonym: "Platyspondylic Skeletal Dysplasia, Torrance Type" EXACT []
synonym: "PLSDL" RELATED []
synonym: "PLSD-T" EXACT []
synonym: "PLSDT" EXACT []
synonym: "PLSD-TL" EXACT []
synonym: "thanatophoric dysplasia, Luton variant" RELATED []
synonym: "thanatophoric dysplasia, Torrance variant" EXACT []
xref: GARD:4382
xref: MESH:C563627
xref: ORDO:85166
is_a: DOID:13481 ! thanatophoric dysplasia

[Term]
id: DOID:0111509
name: lymphedema-distichiasis syndrome
alt_id: MIM:153400
def: "A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11078474 "DO"]
synonym: "hereditary lymphedema-distichiasis syndrome" EXACT []
synonym: "LPHDST" EXACT []
synonym: "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" NARROW []
synonym: "lymphedema with distichiasis" EXACT []
xref: GARD:333
xref: MESH:C537710
xref: NCI:C128191
xref: ORDO:33001
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:4977 ! lymphedema

[Term]
id: DOID:0111510
name: Marshall syndrome
alt_id: MIM:154780
def: "An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13520885 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25073711 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9529347 "DO"]
synonym: "Deafness, myopia, cataract, saddle nose-Marshall type" EXACT []
synonym: "MRSHS" EXACT []
xref: GARD:6984
xref: MESH:C536025
xref: NCI:C128115
xref: ORDO:560
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:83 ! cataract
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0111511
name: melanoma and neural system tumor syndrome
alt_id: MIM:155755
def: "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10797439 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8414022 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8635060 "DO"]
synonym: "cutaneous malignant melanoma and cerebral astrocytoma" EXACT []
synonym: "melanoma astrocytoma syndrome" EXACT []
xref: GARD:8468
xref: MESH:C536149
xref: NCI:C176905
xref: ORDO:252206
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1909 ! melanoma
is_a: DOID:225 ! syndrome
is_a: DOID:3069 ! malignant astrocytoma

[Term]
id: DOID:0111512
name: metachondromatosis
alt_id: MIM:156250
def: "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20577567 "DO"]
synonym: "METCDS" EXACT []
xref: GARD:3560
xref: MESH:C562938
xref: ORDO:2499
is_a: DOID:206 ! hereditary multiple exostoses
is_a: DOID:9004389 ! Bone Neoplasms

[Term]
id: DOID:0111513
name: metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome
alt_id: MIM:156510
def: "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23290074 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7137223 "DO"]
synonym: "MDMHB" EXACT []
synonym: "metaphyseal dysplasia, maxillary hypoplasia, brachydactyly" EXACT []
synonym: "metaphyseal dysplasia with maxillary hypoplasia and brachydactyly" EXACT []
synonym: "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" EXACT []
synonym: "RUNX2-RELATED CONDITION" BROAD []
xref: GARD:3568
xref: MESH:C563586
xref: ORDO:2504
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:0111514
name: metatropic dysplasia
alt_id: MIM:156530
def: "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [https://ghr.nlm.nih.gov/condition/metatropic-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/18348257 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4963592 "DO"]
synonym: "metatrophic dysplasia" EXACT []
synonym: "metatropic dwarfism" EXACT []
synonym: "metatropic dysplasia 1" EXACT []
synonym: "metatropic dysplasia type 1" EXACT []
xref: GARD:3571
xref: MESH:C537356
xref: NCI:C175209
xref: ORDO:2635
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0111515
name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2
def: "A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26094573 "DO"]
synonym: "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy" EXACT []
synonym: "adult-onset CPEO with mitochondrial myopathy" EXACT []
synonym: "autosomal recessive progressive external ophthalmoplegia 2" EXACT []
synonym: "PEOB2" EXACT []
xref: MIM:616479
xref: ORDO:329336
is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive
creation_date: 2012-12-11T00:00:00Z

[Term]
id: DOID:0111516
name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4
def: "A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23043144 "DO"]
synonym: "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency" EXACT []
synonym: "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency" EXACT []
synonym: "PEOB4" EXACT []
synonym: "progressive external ophthalmoplegia, autosomal recessive 4" EXACT []
xref: MIM:617070
xref: ORDO:329314
is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive

[Term]
id: DOID:0111517
name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10926541 "DO"]
synonym: "PEOA2" EXACT []
synonym: "progressive external ophthalmoplegia, autosomal dominant 2" EXACT []
xref: MESH:C563750
xref: MIM:609283
xref: MONDO:0012238
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12558 ! chronic progressive external ophthalmoplegia

[Term]
id: DOID:0111518
name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5
alt_id: MIM:613077
def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19664747 "DO"]
synonym: "autosomal dominant progressive external ophthalmoplegia 5" EXACT []
synonym: "PEOA5" EXACT []
xref: MESH:C567768
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12558 ! chronic progressive external ophthalmoplegia

[Term]
id: DOID:0111519
name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6
def: "A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23352259 "DO"]
synonym: "DNA2-RELATED CONDITION" BROAD []
synonym: "DNA2-related mitochondrial DNA deletion syndrome" EXACT []
synonym: "mitochondrial DNA deletion syndrome with limb-girdle weakness" EXACT []
synonym: "mitochondrial DNA deletion syndrome with progressive myopathy" EXACT []
synonym: "mtDNA deletion syndrome with limb-girdle weakness" EXACT []
synonym: "mtDNA deletion syndrome with progressive myopathy" EXACT []
synonym: "PEOA6" EXACT []
synonym: "progressive external ophthalmoplegia, autosomal dominant 6" EXACT []
xref: MIM:615156
xref: ORDO:352470
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12558 ! chronic progressive external ophthalmoplegia

[Term]
id: DOID:0111520
name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11431692 "DO"]
synonym: "PEOA3" EXACT []
synonym: "progressive external ophthalmoplegia, autosomal dominant 3" EXACT []
xref: MESH:C563747
xref: MIM:609286
xref: MONDO:0012241
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12558 ! chronic progressive external ophthalmoplegia

[Term]
id: DOID:0111521
name: autosomal dominant progressive external ophthalmoplegia 1
alt_id: MIM:157640
def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11431686 "DO"]
synonym: "PEOA1" EXACT []
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1" EXACT []
xref: MESH:C563575
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12558 ! chronic progressive external ophthalmoplegia

[Term]
id: DOID:0111522
name: autosomal recessive progressive external ophthalmoplegia 1
def: "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11431686 "DO"]
synonym: "PEOB1" EXACT []
synonym: "progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1" EXACT []
xref: MIM:258450
is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive

[Term]
id: DOID:0111523
name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3
def: "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21937588 "DO"]
synonym: "PEOB3" EXACT []
synonym: "progressive external ophthalmoplegia, autosomal recessive 3" EXACT []
xref: MIM:617069
is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive
created_by: rgd
creation_date: 2017-11-30T00:00:00Z

[Term]
id: DOID:0111524
name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5
def: "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29290614 "DO"]
synonym: "PEOB5" EXACT []
synonym: "progressive external ophthalmoplegia, autosomal recessive 5" EXACT []
xref: MIM:618098
is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive

[Term]
id: DOID:0111525
name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4
alt_id: MIM:610131
def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16685652 "DO"]
synonym: "PEOA4" EXACT []
synonym: "progressive external ophthalmoplegia, autosomal dominant 4" EXACT []
xref: MESH:C566437
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12558 ! chronic progressive external ophthalmoplegia

[Term]
id: DOID:0111526
name: Mullerian aplasia and hyperandrogenism
alt_id: MIM:158330
def: "A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15317892 "DO"]
synonym: "Mullerian duct failure and hyperandrogenism" EXACT []
synonym: "WNT4 deficiency" EXACT []
xref: MESH:C567186
xref: NCI:C120376
xref: ORDO:247768
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11613 ! hyperandrogenism
is_a: DOID:1923 ! disorder of sexual development

[Term]
id: DOID:0111527
name: spinal muscular atrophy with progressive myoclonic epilepsy
alt_id: MIM:159950
def: "A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy "DO", https://www.ncbi.nlm.nih.gov/pubmed/22703880 "DO"]
synonym: "hereditary myoclonus and progressive distal muscular atrophy" EXACT []
synonym: "hereditary myoclonus-progressive distal muscular atrophy syndrome" EXACT []
synonym: "hereditary myoclonus with progressive distal muscular atrophy" EXACT []
synonym: "Jankovic Rivera syndrome" EXACT []
synonym: "SMA-PME" EXACT []
synonym: "SMAPME" EXACT []
xref: GARD:3044
xref: GARD:3875
xref: MESH:C537563
xref: ORDO:2590
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060160 ! childhood spinal muscular atrophy
is_a: DOID:11720 ! distal myopathy
is_a: DOID:891 ! progressive myoclonus epilepsy
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:0111528
name: Naegeli-Franceschetti-Jadassohn syndrome
alt_id: MIM:161000
def: "A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. (DO)" [https://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis "DO", https://www.ncbi.nlm.nih.gov/pubmed/16960809 "DO"]
synonym: "Naegeli syndrome" EXACT []
synonym: "NFJS" EXACT []
synonym: "NFJ syndrome" EXACT []
xref: GARD:3912
xref: MESH:C538331
xref: ORDO:69087
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11155 ! hypohidrosis
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:3390 ! palmoplantar keratosis

[Term]
id: DOID:0111529
name: familial multiple nevi flammei
alt_id: DOID:9006628
alt_id: MIM:163000
def: "A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16846771 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6716409 "DO"]
synonym: "capillary malformations" EXACT []
synonym: "CMAL" EXACT []
synonym: "CMC" EXACT []
synonym: "Congenital Capillary Malformations" EXACT []
synonym: "congenital capillary malformations, 1" EXACT []
synonym: "familial multiple port-wine stains" EXACT []
synonym: "port-wine stain familial multiple" EXACT []
xref: GARD:3986
xref: MESH:C535816
xref: MESH:C562760
xref: ORDO:624
is_a: DOID:1271 ! capillary disease
is_a: DOID:9001616 ! Port-Wine Stain
is_a: DOID:9003191 ! Vascular Malformations

[Term]
id: DOID:0111530
name: linear nevus sebaceous syndrome
alt_id: MIM:163200
def: "A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17366580 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1918493 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22683711 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24006476 "DO"]
synonym: "epidermal nevus syndrome" EXACT []
synonym: "Feuerstein Mims syndrome" EXACT []
synonym: "inflammatory linear verrucose epidermal nevus" EXACT []
synonym: "inflammatory linear verrucous epidermal naevus" EXACT []
synonym: "Jadassohn Nevus Phakomatosis" EXACT []
synonym: "Jadassohn Nevus Sebaceus" EXACT []
synonym: "Jadassohn Sebaceous Nevus" EXACT []
synonym: "JNP" EXACT []
synonym: "Linear Sebaceous Nevus" EXACT []
synonym: "Linear Verrucous Epidermal Nevus" EXACT []
synonym: "Nevus Sebaceus of Jadassohn" EXACT []
synonym: "nevus sebaceus syndrome" EXACT []
synonym: "Organoid Nevus Phakomatoses" EXACT []
synonym: "Organoid Nevus Phakomatosis" EXACT []
synonym: "organoid nevus syndrome" EXACT []
synonym: "Schimmelpenning Feuerstein Mims Syndrome" EXACT []
synonym: "Schimmelpenning Syndrome" EXACT []
synonym: "sebaceous nevus of Jadassohn" EXACT []
synonym: "SFM" EXACT []
synonym: "SFM syndrome" EXACT []
synonym: "Solomon syndrome" EXACT []
synonym: "verrucous epidermal nevus" EXACT []
synonym: "verrucous nevus" EXACT []
xref: EFO:1001841
xref: GARD:10291
xref: MESH:D054000
xref: ORDO:2612
is_a: DOID:9001734 ! Neurocutaneous Syndromes
is_a: DOID:9002969 ! Nevus
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0111531
name: bilateral optic nerve hypoplasia
alt_id: MIM:165550
def: "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12721955 "DO"]
synonym: "bilateral optic nerve aplasia" NARROW []
synonym: "familial bilateral optic nerve hypoplasia" EXACT []
synonym: "isolated optic nerve hypoplasia/aplasia" EXACT []
synonym: "ONH" EXACT []
xref: GARD:8419
xref: ICD10CM:H47.03
xref: ICD9CM:377.43
xref: MESH:C537130
xref: MESH:C563492
xref: MESH:D000080344
xref: NCI:C101268
xref: NCI:C98999
xref: ORDO:137902
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060857 ! septooptic dysplasia
is_a: DOID:1891 ! optic nerve disease
created_by: mtutaj
creation_date: 2019-02-25T12:06:43Z

[Term]
id: DOID:0111532
name: osteoglophonic dysplasia
alt_id: MIM:166250
def: "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23. (DO)" [https://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/15625620 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7422392 "DO"]
synonym: "Fairbank-Keats syndrome" EXACT []
synonym: "OGD" EXACT []
synonym: "osteoglophonic dwarfism" EXACT []
xref: GARD:4142
xref: MESH:C536050
xref: ORDO:2645
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:0111533
name: gnathodiaphyseal dysplasia
alt_id: MIM:166260
def: "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. (DO)" [https://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/15124103 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23047743 "DO"]
synonym: "GDD" EXACT []
synonym: "gnathodiaphyseal sclerosis" EXACT []
synonym: "Levin syndrome 2" EXACT []
synonym: "osteogenesis imperfecta, Levin type" EXACT []
synonym: "osteogenesis imperfecta with unusual skeletal lesions" EXACT []
xref: GARD:8698
xref: MESH:C536039
xref: ORDO:53697
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12347 ! osteogenesis imperfecta
is_a: DOID:9000066 ! Jaw Abnormalities
created_by: rgd
creation_date: 2016-01-13T00:00:00Z

[Term]
id: DOID:0111534
name: multicentric carpotarsal osteolysis syndrome
alt_id: MIM:166300
def: "A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22387013 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3041835 "DO"]
synonym: "carpal osteolysis" NARROW []
synonym: "hereditary osteolysis of carpal bones with or without nephropathy" EXACT []
synonym: "idiopathic multicentric osteolysis with or without nephropathy" EXACT []
synonym: "MAFB-RELATED CONDITION" BROAD []
synonym: "MCTO" EXACT []
synonym: "multicentric carpo-tarsal osteolysis with or without nephropathy" EXACT []
synonym: "multicentric osteolysis, autosomal dominant" EXACT []
synonym: "multicentric osteolysis nephropathy" EXACT []
xref: GARD:3818
xref: MESH:C567171
xref: NCI:C178416
xref: ORDO:2774
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006569 ! Osteolysis Hereditary Multicentric

[Term]
id: DOID:0111535
name: progressive osseous heteroplasia
alt_id: MIM:166350
def: "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. (DO)" [https://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/11784876 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8126048 "DO"]
synonym: "cutaneous ossification" EXACT []
synonym: "ectopic ossification familial type" EXACT []
synonym: "familial ectopic ossification" EXACT []
synonym: "osteodermia" EXACT []
synonym: "osteoma cutis" EXACT []
synonym: "osteosis cutis" EXACT []
synonym: "POH" EXACT []
xref: GARD:109
xref: MESH:C562735
xref: NCI:C132062
xref: ORDO:2762
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9002278 ! Metabolic Bone Diseases
is_a: DOID:9003295 ! Heterotopic Ossification
is_a: DOID:9007168 ! Genetic Skin Diseases
created_by: mtutaj
creation_date: 2019-02-26T09:11:43Z

[Term]
id: DOID:0111536
name: Buschke-Ollendorff syndrome
alt_id: MIM:166700
def: "A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3. (DO)" [https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15489854 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19438932 "DO"]
synonym: "BOS" EXACT []
synonym: "dermatofibrosis lenticularis disseminata" EXACT []
synonym: "DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED" RELATED []
synonym: "Dermatofibrosis lenticularis disseminata with osteopoikilosis" EXACT []
synonym: "Dermatoosteopoikilosis" EXACT []
synonym: "disseminated dermatofibrosis with osteopoikilosis" EXACT []
synonym: "LEMD3-RELATED CONDITION" EXACT []
synonym: "osteopathia condensans disseminata" EXACT []
synonym: "OSTEOPOIKILOSIS, ISOLATED" RELATED []
synonym: "osteopoikilosis with melorheostosis" RELATED []
synonym: "OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS" RELATED []
xref: GARD:1044
xref: MESH:C537415
xref: ORDO:1306
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11991 ! Osteopoikilosis
is_a: DOID:225 ! syndrome
is_a: DOID:9007168 ! Genetic Skin Diseases
created_by: mtutaj
creation_date: 2019-10-08T11:57:28Z

[Term]
id: DOID:0111537
name: paroxysmal extreme pain disorder
alt_id: MIM:167400
def: "An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. (DO)" [https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder "DO", https://www.ncbi.nlm.nih.gov/pubmed/17145499 "DO"]
synonym: "familial rectal pain" EXACT []
synonym: "PEPD" EXACT []
synonym: "PEXPD" EXACT []
synonym: "submandibular, ocular, and rectal pain with flushing" EXACT []
xref: GARD:12854
xref: MESH:C563475
xref: NCI:C125385
xref: ORDO:46348
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11465 ! autonomic nervous system disease
is_a: DOID:9000641 ! Pain
created_by: rgd
creation_date: 2015-06-30T00:00:00Z

[Term]
id: DOID:0111538
name: paramyotonia congenita of Von Eulenburg
def: "A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. (DO)" [https://ghr.nlm.nih.gov/condition/paramyotonia-congenita "DO", https://www.ncbi.nlm.nih.gov/pubmed/1316765 "DO"]
synonym: "Eulenburg disease" EXACT []
synonym: "myotonia congenita intermittens" EXACT []
synonym: "paralysis periodica paramyotonica" EXACT []
synonym: "PARAMYOTONIA CONGENITA" EXACT []
synonym: "PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS" NARROW []
synonym: "paramyotonia congenita without cold paralysis" NARROW []
synonym: "PMC" EXACT []
synonym: "Von Eulenburg paramyotonia congenita" EXACT []
xref: GARD:7325
xref: ICD10CM:G71.19
xref: MIM:168300
xref: ORDO:684
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:450 ! myotonic disease

[Term]
id: DOID:0111539
name: parastremmatic dwarfism
alt_id: MIM:168400
def: "An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20503319 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4992387 "DO"]
synonym: "parastremmatic dysplasia" EXACT []
xref: GARD:4222
xref: MESH:C537172
xref: ORDO:2646
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060249 ! scoliosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:4667 ! kyphosis
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0111540
name: prolidase deficiency
alt_id: MIM:170100
def: "An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. (DO)" [https://ghr.nlm.nih.gov/condition/prolidase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/18340504 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1972707 "DO"]
synonym: "Hyperimidodipeptiduria" EXACT []
synonym: "hyperimidodipeptidurias" EXACT []
synonym: "Imidodipeptidase Deficiencies" EXACT []
synonym: "Imidodipeptidase Deficiency" EXACT []
synonym: "PEPD-RELATED CONDITION" EXACT []
synonym: "peptidase deficiency" EXACT []
synonym: "prolidase deficiencies" EXACT []
xref: GARD:7473
xref: MESH:D056732
xref: NCI:C85029
xref: ORDO:742
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: slaulede
creation_date: 2019-01-15T17:42:02Z

[Term]
id: DOID:0111541
name: pigmented paravenous chorioretinal atrophy
alt_id: MIM:172870
def: "An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15623792 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3778279 "DO"]
synonym: "PPCRA" EXACT []
synonym: "PPRCA" EXACT []
xref: MESH:C566801
xref: ORDO:251295
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:8466 ! retinal degeneration
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0111542
name: familial expansile osteolysis
alt_id: MIM:174810
def: "A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10615125 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12362049 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17447113 "DO"]
synonym: "EOF" EXACT []
synonym: "FEO" EXACT []
synonym: "HEPOD" EXACT []
synonym: "hereditary expansile polyostotic osteolytic dysplasia" EXACT []
synonym: "McCabe disease" EXACT []
xref: GARD:9168
xref: MESH:C536335
xref: ORDO:85195
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9006081 ! Osteolysis

[Term]
id: DOID:0111543
name: juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome
alt_id: MIM:175050
def: "A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15031030 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20101697 "DO"]
synonym: "generalized juvenile polyposis with pulmonary arteriovenous malformation" EXACT []
synonym: "hereditary hemorrhagic telangiectasia with juvenile polyposis coli" EXACT []
synonym: "JP/HHT SYNDROME" EXACT []
synonym: "JP-HHT" EXACT []
synonym: "JPHHT Syndrome" EXACT []
synonym: "JPHT" EXACT []
synonym: "JPS/HHT" EXACT []
synonym: "JPSHHT" EXACT []
synonym: "Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia" EXACT []
xref: MESH:C563412
is_a: DOID:0050787 ! juvenile polyposis syndrome
is_a: DOID:1270 ! hereditary hemorrhagic telangiectasia

[Term]
id: DOID:0111544
name: Guttmacher syndrome
alt_id: MIM:176305
def: "A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11968094 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8484413 "DO"]
synonym: "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias" EXACT []
synonym: "preaxial deficiency, postaxial polydactyly and hypospadias" EXACT []
synonym: "preaxial deficiency-postaxial polydactyly-hypospadias syndrome" EXACT []
xref: GARD:4470
xref: MESH:C538278
xref: ORDO:2957
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10892 ! hypospadias
is_a: DOID:225 ! syndrome
is_a: DOID:9003071 ! Postaxial Polydactyly
is_a: DOID:9005329 ! Preaxial Polydactyly
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0111545
name: familial male-limited precocious puberty
alt_id: MIM:176410
def: "An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3. (DO)" [https://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty "DO", https://www.ncbi.nlm.nih.gov/pubmed/7692306 "DO"]
synonym: "familial gonadotrophin-independent sexual precocity" EXACT []
synonym: "familial gonadotropin-independent male-limited sexual precocity" EXACT []
synonym: "familial gonadotropin-independent sexual precocity" EXACT []
synonym: "familial precocious puberty" EXACT []
synonym: "Familial Testotoxicosis" EXACT []
synonym: "FMPP" EXACT []
synonym: "Gonadotrophin-Independent Precocious Puberty" EXACT []
synonym: "Idiopathic sexual precocity" EXACT []
synonym: "LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY" NARROW []
synonym: "Precocious Pseudopuberty" EXACT []
synonym: "Precocious puberty, male limited" EXACT []
synonym: "pubertas praecox" EXACT []
synonym: "sexual precocity" EXACT []
synonym: "testotoxicosis" EXACT []
xref: GARD:4475
xref: MESH:C536961
xref: MESH:C538542
xref: NCI:C113219
xref: ORDO:3000
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9007284 ! Precocious Puberty

[Term]
id: DOID:0111546
name: Currarino syndrome
alt_id: MIM:176450
def: "A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6789651 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9843207 "DO"]
synonym: "Currarino triad" EXACT []
synonym: "hereditary sacral agenesis with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation" NARROW []
synonym: "sacral agenesis syndrome" NARROW []
synonym: "SCRA1" NARROW []
xref: GARD:1626
xref: MESH:C536221
xref: ORDO:1552
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:327 ! syringomyelia
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:0111547
name: retinal arterial tortuosity
def: "An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12745002 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25228067 "DO"]
synonym: "RATOR" EXACT []
synonym: "retinal arteriolar tortuosity" EXACT []
synonym: "RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY" EXACT []
synonym: "tortuosity of retinal arteries" EXACT []
xref: MIM:180000
xref: ORDO:75326
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050828 ! artery disease
is_a: DOID:5679 ! retinal disease
is_a: DOID:9000062 ! Retinal Hemorrhage
is_a: DOID:9003191 ! Vascular Malformations

[Term]
id: DOID:0111548
name: ring dermoid of cornea
alt_id: MIM:180550
def: "A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15591271 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7387508 "DO"]
synonym: "Bilateral, annular limbal dermoids with corneal and conjunctival extension" EXACT []
synonym: "RDC" EXACT []
synonym: "Ring dermoid syndrome" EXACT []
xref: GARD:9696
xref: MESH:C535684
xref: ORDO:91481
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10124 ! corneal disease
is_a: DOID:2658 ! dermoid cyst
is_a: DOID:4251 ! conjunctival disease

[Term]
id: DOID:0111549
name: aplasia of lacrimal and salivary glands
alt_id: MIM:180920
def: "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15654336 "DO"]
synonym: "absence of salivary glands" NARROW []
synonym: "ALSG" EXACT []
synonym: "congenital absence of lacrimal puncta and salivary glands" EXACT []
synonym: "parotid aplasia or hypoplasia" NARROW []
xref: ICD9CM:750.21
xref: MESH:C562407
xref: ORDO:86815
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10854 ! salivary gland disease
is_a: DOID:1400 ! lacrimal apparatus disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0111550
name: scalp-ear-nipple syndrome
alt_id: MIM:181270
def: "An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2. (DO)" [https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23541344 "DO"]
synonym: "Finlay-Marks syndrome" EXACT []
synonym: "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples" EXACT []
synonym: "SENS" EXACT []
synonym: "SEN syndrome" EXACT []
xref: GARD:159
xref: MESH:C536623
xref: ORDO:2036
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10892 ! hypospadias
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9005603 ! Muscle Hypotonia

[Term]
id: DOID:0111551
name: neurogenic scapuloperoneal syndrome Kaeser type
alt_id: MIM:181400
def: "A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17439987 "DO"]
synonym: "Kaeser syndrome" EXACT []
synonym: "SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER" EXACT []
synonym: "scapuloperoneal syndrome type Kaeser" EXACT []
synonym: "SCPNK" EXACT []
synonym: "Stark-Kaeser syndrome" EXACT []
xref: GARD:10312
xref: MESH:C566695
xref: ORDO:85146
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12377 ! spinal muscular atrophy
is_a: DOID:423 ! myopathy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:0111552
name: scapuloperoneal spinal muscular atrophy
alt_id: MIM:271220
def: "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1520078 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20037587 "DO"]
synonym: "neurogenic scapuloperoneal amyotrophy, New England type" EXACT []
synonym: "scapuloperoneal form of spinal muscular atrophy" EXACT []
synonym: "scapuloperoneal neuronopathy" EXACT []
synonym: "spinal muscular atrophy, scapuloperoneal form" EXACT []
synonym: "SPSMA" EXACT []
xref: EFO:1001992
xref: GARD:10314
xref: ICD10CM:G12.1
xref: MIM:181405
xref: ORDO:431255
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:0111553
name: spondyloepiphyseal dysplasia Maroteaux type
def: "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20503319 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2229114 "DO"]
synonym: "pseudo-Morquio syndrome, type 2" EXACT []
synonym: "SED, Maroteaux type" EXACT []
synonym: "spondyloepiphyseal dysplasia of Maroteaux" EXACT []
xref: GARD:994
xref: MIM:184095
xref: ORDO:263482
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia

[Term]
id: DOID:0111554
name: spondylometaphyseal dysplasia Kozlowski type
alt_id: MIM:184252
def: "A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19232556 "DO"]
synonym: "dysmorphism arthrogryposis skeletal maturation advanced" EXACT []
synonym: "Jequier-Kozlowski syndrome" EXACT []
synonym: "skeletal dysplasia Jequier-Kozlowski type" EXACT []
synonym: "SMDK" EXACT []
synonym: "SMD, Kozlowski Type" EXACT []
xref: GARD:3047
xref: MESH:C535797
xref: ORDO:93314
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112295 ! spondylometaphyseal dysplasia

[Term]
id: DOID:0111555
name: Alkuraya-Kucinskas syndrome
def: "A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25558065 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29290337 "DO"]
synonym: "ALKKUCS" EXACT []
xref: MIM:617822
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:0111556
name: steatocystoma multiplex
def: "A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2. (DO)" [https://ghr.nlm.nih.gov/condition/steatocystoma-multiplex "DO", https://www.ncbi.nlm.nih.gov/pubmed/18098741 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9008238 "DO"]
synonym: "Multiple Sebaceous Cyst" EXACT []
synonym: "Multiple Sebaceous Cysts" EXACT []
synonym: "Multiplex Steatocystomas" EXACT []
synonym: "Steatocystoma Multiplices" EXACT []
xref: GARD:5003
xref: MESH:D062685
xref: MIM:184500
xref: ORDO:841
is_a: DOID:0050449 ! pachyonychia congenita
is_a: DOID:9098 ! sebaceous gland disease

[Term]
id: DOID:0111557
name: Charcot-Marie-Tooth disease type 2A2B
def: "A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21715711 "DO"]
synonym: "AR-CMT2, Ouvrier type" EXACT []
synonym: "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type" EXACT []
synonym: "axonal Charcot-Marie-Tooth disease, autosomal recessive, type 2A2B" EXACT []
synonym: "axonal Charcot-Marie-Tooth disease, type 2A2, autosomal recessive" NARROW []
synonym: "axonal Charcot-Marie-Tooth disease, type 2A2B" EXACT []
synonym: "CMT2A2B" EXACT []
synonym: "SEOAN due to MFN2 deficiency" EXACT []
synonym: "severe early-onset axonal neuropathy due to MFN2 deficiency" EXACT []
xref: MIM:617087
xref: ORDO:90118
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9004551 ! Charcot-Marie-Tooth Disease Type 2A2

[Term]
id: DOID:0111558
name: Charcot-Marie-Tooth disease type 2DD
def: "A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29499166 "DO"]
synonym: "ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2" EXACT []
synonym: "ATP1A1-related CMT2" EXACT []
synonym: "Charcot-Marie-Tooth Disease, Axonal, Type 2DD" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2DD" EXACT []
synonym: "CMT2DD" EXACT []
xref: MIM:618036
xref: ORDO:521414
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0111559
name: Charcot-Marie-Tooth disease type 2EE
def: "A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26437932 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30298599 "DO"]
synonym: "Charcot-Marie-Tooth disease, axonal, type 2EE" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 2EE" EXACT []
synonym: "CMT2EE" EXACT []
xref: MIM:618400
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0111560
name: Charcot-Marie-Tooth disease type 1G
def: "A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26828946 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27009151 "DO"]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1G" EXACT []
synonym: "Charcot-Marie-Tooth Disease Type IG" EXACT []
synonym: "CMT1G" EXACT []
synonym: "PMP2-related Charcot-Marie-Tooth disease type 1" EXACT []
synonym: "PMP2-related Charcot-Marie-Tooth neuropathy type 1" EXACT []
synonym: "PMP2-related CMT1" EXACT []
synonym: "PMP2-related hereditary motor and sensory neuropathy type 1" EXACT []
xref: EFO:0010266
xref: MIM:618279
xref: ORDO:476394
is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1
is_a: DOID:0050736 ! autosomal dominant disease
created_by: slaulede
creation_date: 2019-01-15T17:45:30Z

[Term]
id: DOID:0111561
name: stiff skin syndrome
alt_id: MIM:184900
def: "A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20375004 "DO"]
synonym: "SSKS" EXACT []
xref: GARD:5025
xref: MESH:C566112
xref: NCI:C118636
xref: ORDO:2833
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0111562
name: overhydrated hereditary stomatocytosis
alt_id: MIM:185000
def: "A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18931342 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21849667 "DO"]
synonym: "OHS" EXACT []
synonym: "OHST" EXACT []
synonym: "potassium-sodium disorder of erythrocyte" EXACT []
synonym: "RHAG-RELATED CONDITION" BROAD []
synonym: "Stomatocytosis I" EXACT []
synonym: "stomatocytosisIOHST" EXACT []
xref: GARD:4183
xref: MESH:C566111
xref: ORDO:3203
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2361 ! macrocytic anemia
is_a: DOID:589 ! congenital hemolytic anemia
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9006795 ! Acid-Base Imbalance
created_by: rgd
creation_date: 2017-07-11T00:00:00Z

[Term]
id: DOID:0111563
name: Sturge-Weber syndrome
alt_id: MIM:185300
alt_id: MIM:608355
def: "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. (DO)" [https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15165630 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23656586 "DO"]
synonym: "angiomatosis oculoorbital-thalamic syndrome" EXACT []
synonym: "encephalofacial angiomatosis" EXACT []
synonym: "encephalofacial hemangiomatosis syndrome" EXACT []
synonym: "encephalotrigeminal angiomatosis" EXACT []
synonym: "fourth phacomatosis" EXACT []
synonym: "leptomeningeal angiomatosis" EXACT []
synonym: "meningeal capillary angiomatosis" EXACT []
synonym: "meningofacial angiomatosis-cerebral calcification syndrome" EXACT []
synonym: "meningo oculo facial angiomatosis" EXACT []
synonym: "Neuroretinoangiomatosis" EXACT []
synonym: "Parkes Weber Syndrome" EXACT []
synonym: "PKWS" EXACT []
synonym: "Sturge's Syndrome" EXACT []
synonym: "Sturge Disease" EXACT []
synonym: "Sturge Kalischer Weber Syndrome" EXACT []
synonym: "Sturge syndrome" EXACT []
synonym: "Sturge Weber Dimitri syndrome" EXACT []
synonym: "Sturge-Weber-Krabbe angiomatosis" EXACT []
synonym: "Sturge Weber Krabbe syndrome" EXACT []
synonym: "Sturge-Weber phakomatosis" EXACT []
synonym: "SWS" EXACT []
xref: GARD:7706
xref: MESH:D013341
xref: NCI:C3391
xref: ORDO:3205
is_a: DOID:255 ! hemangioma
is_a: DOID:9001734 ! Neurocutaneous Syndromes
is_a: DOID:9004079 ! Angiomatosis

[Term]
id: DOID:0111564
name: hypoplastic or aplastic tibia with polydactyly
alt_id: MESH:C535564
alt_id: MESH:C566046
def: "A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19847792 "DO"]
synonym: "absence of tibia with polydactyly" EXACT []
synonym: "absent tibia-polydactyly syndrome" EXACT []
synonym: "hypoplasia of tibia with polydactyly" EXACT []
synonym: "hypoplasia or aplasia of tibia with polydactyly" EXACT []
synonym: "hypoplastic tibiae-postaxial polydactyly syndrome" EXACT []
synonym: "polydactyly with absent tibia" EXACT []
synonym: "THYP" EXACT []
synonym: "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia" EXACT []
synonym: "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome" EXACT []
synonym: "tibial hypoplasia or aplasia with polydactyly" EXACT []
synonym: "Werner mesomelic syndrome" EXACT []
synonym: "WMS" EXACT []
xref: GARD:8309
xref: MIM:188740
xref: ORDO:3332
xref: ORDO:988
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1148 ! polydactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9000545 ! Ectromelia
is_a: DOID:9000751 ! Absence of Tibia

[Term]
id: DOID:0111565
name: trichodontoosseous syndrome
alt_id: MIM:190320
def: "A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22671030 "DO"]
synonym: "TDO" EXACT []
synonym: "TDO syndrome" EXACT []
synonym: "tricho-dento-osseous syndrome" EXACT []
xref: GARD:7799
xref: MESH:C536549
xref: ORDO:3352
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:421 ! hair disease
is_a: DOID:693 ! dental enamel hypoplasia
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0111566
name: familial isolated trichomegaly
alt_id: DOID:9001840
def: "An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24989505 "DO"]
synonym: "long eyelashes" EXACT []
synonym: "TCMGLY" EXACT []
synonym: "trichomegaly" EXACT []
xref: MIM:190330
xref: ORDO:411788
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:421 ! hair disease
is_a: DOID:530 ! eyelid disease

[Term]
id: DOID:0111567
name: retinal vasculopathy with cerebral leukodystrophy
alt_id: MIM:192315
def: "A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17660820 "DO"]
synonym: "CRV" EXACT []
synonym: "hereditary cerebroretinal vasculopathy" EXACT []
synonym: "retinal vasculopathy and cerebral leukoencephalopathy" EXACT []
synonym: "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" EXACT []
synonym: "RVCL" EXACT []
synonym: "RVCL-S" EXACT []
synonym: "RVCLS" EXACT []
synonym: "vascular retinopathy with cerebral and renal involvement and Raynaud and migraine phenomena" EXACT []
xref: GARD:1217
xref: MESH:C566007
xref: ORDO:247691
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:178 ! vascular disease
is_a: DOID:5679 ! retinal disease
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases

[Term]
id: DOID:0111568
name: congenital vertical talus
alt_id: MIM:192950
def: "A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15368082 "DO"]
synonym: "Charcot-Marie-Tooth Disease, Foot Deformity of" EXACT []
synonym: "congenital convex foot" EXACT []
synonym: "congenital rocker-bottom foot" EXACT []
synonym: "CVT" EXACT []
synonym: "pes valgus, congenital convex" EXACT []
synonym: "rocker-bottom foot" EXACT []
synonym: "rocker-bottom foot deformity" EXACT []
xref: GARD:5488
xref: MESH:C536345
xref: MESH:C564179
xref: ORDO:178382
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9000067 ! Congenital Foot Deformities

[Term]
id: DOID:0111569
name: autosomal dominant vitreoretinochoroidopathy
alt_id: MIM:193220
def: "A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15452077 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7065944 "DO"]
synonym: "ADVIRC" EXACT []
synonym: "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma" BROAD []
synonym: "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2" NARROW []
synonym: "MRCS" BROAD []
synonym: "MRCS2" NARROW []
synonym: "Vitreoretinochoroidopathy" EXACT []
synonym: "Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos" EXACT []
synonym: "Vitreoretinochoroidopathy dominant" EXACT []
synonym: "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract" EXACT []
synonym: "VRCP" EXACT []
synonym: "VRCP autosomal dominant" EXACT []
xref: GARD:5507
xref: MESH:C536352
xref: ORDO:3086
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1417 ! choroid disease
is_a: DOID:8500 ! hereditary retinal dystrophy

[Term]
id: DOID:0111570
name: snowflake vitreoretinal degeneration
alt_id: MIM:193230
def: "An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18179896 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4812083 "DO"]
synonym: "snowflake degeneration in hereditary vitreoretinal degeneration" EXACT []
synonym: "SVD" EXACT []
synonym: "vitreoretinal degeneration, Snowflake type" EXACT []
xref: GARD:9706
xref: MESH:C536677
xref: ORDO:91496
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:8466 ! retinal degeneration
is_a: DOID:9799 ! eye degenerative disease

[Term]
id: DOID:0111571
name: Weyers acrofacial dysostosis
alt_id: MIM:193530
def: "An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. (DO)" [https://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/10700184 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16404586 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9399901 "DO"]
synonym: "acrodental dysostosis of Weyers" EXACT []
synonym: "acrofacial dysostosis of Weyers" EXACT []
synonym: "acrofacial dysostosis, Weyers type" EXACT []
synonym: "Curry Hall syndrome" EXACT []
synonym: "WAD" EXACT []
synonym: "Weyers acrodental dysostosis" EXACT []
xref: GARD:497
xref: MESH:C536695
xref: ORDO:952
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060379 ! acrofacial dysostosis
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:0111572
name: familial woolly hair syndrome
def: "A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19365138 "DO"]
synonym: "congenital woolly hair" EXACT []
synonym: "familial wooly hair syndrome" EXACT []
synonym: "frizzy hair syndrome" EXACT []
synonym: "hereditary woolly hair syndrome" EXACT []
synonym: "hereditary wooly hair syndrome" EXACT []
synonym: "woolly hair" EXACT []
synonym: "woolly hair syndrome" EXACT []
synonym: "wooly hair" EXACT []
xref: GARD:5597
xref: MESH:C536745
xref: ORDO:170
is_a: DOID:421 ! hair disease
created_by: rgd
creation_date: 2017-12-07T00:00:00Z

[Term]
id: DOID:0111573
name: autosomal dominant woolly hair
def: "A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the KRT74 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20346438 "DO"]
synonym: "ADWH" EXACT []
xref: MIM:194300
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111572 ! familial woolly hair syndrome

[Term]
id: DOID:0111574
name: autosomal recessive woolly hair 3
def: "A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26160856 "DO"]
synonym: "ARWH3" EXACT []
synonym: "WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS" EXACT []
xref: MIM:616760
xref: MONDO:0014765
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:9001083 ! Autosomal Recessive Woolly Hair

[Term]
id: DOID:0111575
name: dehydrated hereditary stomatocytosis
def: "A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22529292 "DO"]
synonym: "desiccytosis gardos" EXACT []
synonym: "DHS" EXACT []
synonym: "hereditary desiccytosis" EXACT []
synonym: "hereditary xerocytosis" EXACT []
synonym: "xerocytosis gardos" EXACT []
xref: GARD:5623
xref: MESH:C536764
xref: ORDO:3202
is_a: DOID:589 ! congenital hemolytic anemia
created_by: slaulede
creation_date: 2018-04-16T17:54:10Z

[Term]
id: DOID:0111576
name: dehydrated hereditary stomatocytosis 1
alt_id: MIM:194380
def: "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22529292 "DO"]
synonym: "dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema" EXACT []
synonym: "Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema" EXACT []
synonym: "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis" EXACT []
synonym: "DHS1" EXACT []
synonym: "familial pseudohyperkalemia 1, due to red cell leak" EXACT []
synonym: "pseudohyperkalemia Edinburgh" EXACT []
synonym: "PSHK1" EXACT []
xref: MESH:C566369
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111575 ! dehydrated hereditary stomatocytosis
is_a: DOID:9001961 ! Hyperkalemia
is_a: DOID:9008386 ! Hydrops Fetalis

[Term]
id: DOID:0111577
name: dehydrated hereditary stomatocytosis 2
def: "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26148990 "DO"]
synonym: "DHS2" EXACT []
xref: MIM:616689
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111575 ! dehydrated hereditary stomatocytosis

[Term]
id: DOID:0111578
name: Gillespie syndrome
alt_id: MIM:206700
alt_id: OMIA:002097
def: "A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27108797 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27108798 "DO"]
synonym: "aniridia, cerebellar ataxia, and mental deficiency" EXACT []
synonym: "aniridia, cerebellar ataxia, and mental retardation" EXACT []
synonym: "aniridia-cerebellar ataxia-intellectual disability syndrome" EXACT []
synonym: "aniridia, cerebellar ataxia, mental deficiency" EXACT []
synonym: "GLSP" EXACT []
synonym: "ITPR1-RELATED SYNDROMIC AND NON-SYNDROMIC HEREDITARY ATAXIA" BROAD []
synonym: "partial aniridia-cerebellar ataxia-mental retardation" EXACT []
synonym: "partial aniridia-cerebellar ataxia-oligophrenia" EXACT []
synonym: "spinocerebellar ataxia, ITPR1-related" NARROW []
xref: GARD:13
xref: MESH:C536370
xref: ORDO:1065
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12271 ! aniridia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0111579
name: asthma, nasal polyps, and aspirin intolerance
alt_id: MIM:208550
def: "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15496426 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15806396 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9393345 "DO"]
synonym: "ASA Triad" EXACT []
synonym: "ASA TRIAD  ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO" NARROW []
synonym: "ASTHMA AND NASAL POLYPS" NARROW []
xref: MESH:C565935
is_a: DOID:0080822 ! aspirin-induced respiratory disease
is_a: DOID:9001472 ! Nasal Polyps

[Term]
id: DOID:0111580
name: Behr syndrome
alt_id: MIM:210000
def: "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6747661 "DO"]
synonym: "Abortive cerebellar ataxia (BEHRS)" EXACT []
synonym: "BEHRS" EXACT []
synonym: "infantile hereditary optic atrophy, Behr complicated form of" EXACT []
synonym: "infantile hereditary optic atrophy, with neurologic abnormalities" EXACT []
synonym: "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss" EXACT []
xref: GARD:849
xref: MESH:C537669
xref: NCI:C177251
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9006743 ! Spasm
created_by: mtutaj
creation_date: 2019-05-01T11:58:09Z

[Term]
id: DOID:0111581
name: C syndrome
alt_id: DOID:9007360
def: "A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17847009 "DO"]
synonym: "Opitz C trigonocephaly" EXACT []
synonym: "Opitz trigonocephaly C syndrome" EXACT []
synonym: "Opitz trigonocephaly syndrome" EXACT []
synonym: "OTCS" EXACT []
synonym: "trigonocephaly C syndrome" EXACT []
synonym: "trigonocephaly syndrome" EXACT []
xref: GARD:5978
xref: MESH:C537418
xref: MIM:211750
xref: MONDO:0008893
xref: ORDO:1308
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:37 ! skin disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:0111582
name: hereditary arterial and articular multiple calcification syndrome
alt_id: MIM:211800
def: "A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21288095 "DO"]
synonym: "ACDC" EXACT []
synonym: "arterial calcification and distal joint calcification" EXACT []
synonym: "arterial calcification due to CD73 deficiency" EXACT []
synonym: "arterial calcification due to deficiency of CD73" EXACT []
synonym: "calcification of joints and arteries" EXACT []
synonym: "CALJA" EXACT []
xref: GARD:10762
xref: MESH:C565891
xref: NCI:C201591
xref: ORDO:289601
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:178 ! vascular disease
is_a: DOID:182 ! calcinosis
is_a: DOID:225 ! syndrome
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:0111583
name: carboxypeptidase N deficiency
alt_id: MIM:212070
def: "A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12560874 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7437116 "DO"]
synonym: "anaphylotoxin inactivator deficiency" EXACT []
synonym: "deficiency of carboxypeptidase B" EXACT []
xref: MESH:C562876
xref: NCI:C132196
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2345 ! plasma protein metabolism disease
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0111584
name: dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
alt_id: MESH:C535580
alt_id: MESH:C535703
def: "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12927431 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19283854 "DO"]
synonym: "cardiogenital syndrome" EXACT []
synonym: "CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE" EXACT []
synonym: "cardiomyopathy eith primary testicular failure" EXACT []
synonym: "CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE" EXACT []
synonym: "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome" EXACT []
synonym: "congestive cardiomyopathy with hypergonadotropic hypogonadism" EXACT []
synonym: "congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism" EXACT []
synonym: "dilated cardiomyopathy with hypergonadotropic hypogonadism" EXACT []
synonym: "genital anomaly with cardiomyopathy" EXACT []
synonym: "Malouf syndrome" EXACT []
synonym: "Najjar syndrome" EXACT []
xref: GARD:3373
xref: MIM:212112
xref: NCI:C174217
xref: ORDO:2229
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12930 ! dilated cardiomyopathy
is_a: DOID:14447 ! gonadal dysgenesis
is_a: DOID:225 ! syndrome
is_a: DOID:9006138 ! Laminopathies
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:0111585
name: carnitine-acylcarnitine translocase deficiency
alt_id: MIM:212138
def: "A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. (DO)" [https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/15363639 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9399886 "DO"]
synonym: "CACTD" EXACT []
synonym: "CACT Deficiency" EXACT []
synonym: "Carnitine-Acylcarnitine Carrier Deficiency" EXACT []
xref: GARD:1123
xref: MESH:C562812
xref: NCI:C133086
xref: ORDO:159
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:0111586
name: Martsolf syndrome 1
def: "A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41. (DO)" [https://ghr.nlm.nih.gov/condition/rab18-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/16532399 "DO", https://www.ncbi.nlm.nih.gov/pubmed/677168 "DO"]
synonym: "MARTS1" EXACT []
xref: MIM:212720
is_a: DOID:9006949 ! Martsolf Syndrome

[Term]
id: DOID:0111587
name: Gordon Holmes syndrome
alt_id: MIM:212840
def: "An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1. (DO)" [https://ghr.nlm.nih.gov/condition/gordon-holmes-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23656588 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25841028 "DO"]
synonym: "CAHH" EXACT []
synonym: "cerebellar ataxia and hypogonadotropic hypogonadism" EXACT []
synonym: "cerebellar ataxia-hypogonadism syndrome" EXACT []
synonym: "deficiency of luteinizing hormone-releasing hormone with ataxia" EXACT []
synonym: "GDHS" EXACT []
synonym: "LHRH deficiency and ataxia" EXACT []
synonym: "luteinizing hormone-releasing hormone deficiency with ataxia" EXACT []
xref: MESH:C565870
xref: ORDO:1173
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0111588
name: Greenberg dysplasia
alt_id: MIM:215140
def: "An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12. (DO)" [https://ghr.nlm.nih.gov/condition/greenberg-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/18382993 "DO"]
synonym: "autosomal recessive lethal chondrodystrophy with congenital hydrops" EXACT []
synonym: "GRBGD" EXACT []
synonym: "Greenberg Skeletal Dysplasia" EXACT []
synonym: "HEM Dysplasia" EXACT []
synonym: "HEM skeletal dysplasia" EXACT []
synonym: "hydropic chondrodystrophy and prenatally lethal type" EXACT []
synonym: "hydrops-ectopic calcification-moth-eaten skeletal dysplasia" EXACT []
synonym: "hydrops-ectopic calcification-motheaten syndrome" EXACT []
synonym: "moth-eaten skeletal dysplasia" EXACT []
synonym: "skeletal dysplasia, Greenberg type" EXACT []
xref: GARD:8754
xref: MESH:C535858
xref: ORDO:1426
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:182 ! calcinosis
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9008386 ! Hydrops Fetalis

[Term]
id: DOID:0111589
name: COACH syndrome
def: "A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19574260 "DO"]
synonym: "cerebellar vermis hypo-aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis" EXACT []
synonym: "cerebellar vermis hypo-aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis" EXACT []
synonym: "Gentile syndrome" EXACT []
synonym: "Joubert syndrome with congenital hepatic fibrosis" EXACT []
synonym: "Joubert syndrome with hepatic defect" EXACT []
synonym: "Joubert syndrome with ocular defect" NARROW []
synonym: "JS-H" EXACT []
xref: GARD:1410
xref: MESH:C536430
xref: ORDO:1454
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12270 ! coloboma
is_a: DOID:13580 ! cholestasis
is_a: DOID:225 ! syndrome
is_a: DOID:409 ! liver disease
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0111590
name: Cohen syndrome
alt_id: MIM:216550
alt_id: OMIA:001428
def: "A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2. (DO)" [https://ghr.nlm.nih.gov/condition/cohen-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/12730828 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24334764 "DO"]
synonym: "CHS1" EXACT []
synonym: "COH" EXACT []
synonym: "COH1" EXACT []
synonym: "hypotonia, obesity, and prominent incisors" EXACT []
synonym: "Norio syndrome" EXACT []
synonym: "obesity-hypotonia syndrome" EXACT []
synonym: "Pepper syndrome" EXACT []
synonym: "prominent incisors-obesity-hypotonia syndrome" EXACT []
synonym: "trapped neutrophil syndrome" EXACT []
synonym: "VPS13B-RELATED CONDITION" EXACT []
xref: GARD:6126
xref: MESH:C536438
xref: ORDO:193
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:11830 ! myopia
is_a: DOID:225 ! syndrome
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9970 ! obesity

[Term]
id: DOID:0111591
name: congenital heart defects, hamartomas of tongue, and polysyndactyly
alt_id: MESH:C535849
alt_id: MESH:C537137
def: "A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1516223 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25427950 "DO"]
synonym: "CHDTHP" EXACT []
synonym: "heart defect, tongue hamartoma and polysyndactyly" EXACT []
synonym: "heart defect-tongue hamartoma-polysyndactyly syndrome" EXACT []
synonym: "Orstavik Lindemann Solberg syndrome" EXACT []
synonym: "Ostravik-Lindemann-Solberg syndrome" EXACT []
synonym: "WDPCP-RELATED CONDITION" BROAD []
xref: GARD:4166
xref: MIM:217085
xref: ORDO:1338
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11193 ! syndactyly
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9005873 ! Tongue Neoplasms
is_a: DOID:9007253 ! Hamartoma

[Term]
id: DOID:0111592
name: plasminogen deficiency type I
alt_id: MIM:217090
alt_id: OMIA:002020
def: "A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/12850227 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16849641 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9242524 "DO"]
synonym: "DYSPLASMINOGENEMIA" RELATED []
synonym: "LIGNEOUS CONJUNCTIVITIS" RELATED []
synonym: "ligneous membranitis" RELATED []
synonym: "plasminogen deficiency, type 1" EXACT []
synonym: "plasminogen deficiency, type II" RELATED []
synonym: "PLG-RELATED CONDITION" BROAD []
xref: GARD:4380
xref: ICD10CM:E88.02
xref: MESH:C566897
xref: ORDO:722
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:6195 ! conjunctivitis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0111593
name: distal arthrogryposis type 10
alt_id: MIM:187370
def: "A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17103435 "DO"]
synonym: "DA10" EXACT []
synonym: "plantar flexion contracture" EXACT []
synonym: "short Achilles tendon" EXACT []
synonym: "short tendo calcaneus" EXACT []
xref: MESH:C566069
xref: ORDO:251515
is_a: DOID:0050646 ! distal arthrogryposis
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0111594
name: distal arthrogryposis type 5D
def: "A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23261301 "DO"]
synonym: "DA5D" EXACT []
synonym: "distal arthrogryposis type 5 without ophthalmoparesis" EXACT []
synonym: "distal arthrogryposis type 5 without ophthalmoplegia" EXACT []
xref: MIM:615065
xref: ORDO:329457
is_a: DOID:0050646 ! distal arthrogryposis
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0111595
name: congenital contractural arachnodactyly
alt_id: MIM:121050
def: "A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4552107 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9106527 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9714438 "DO"]
synonym: "Beals-Hecht syndrome" EXACT []
synonym: "Beals syndrome" EXACT []
synonym: "CCA" EXACT []
synonym: "contractural arachnodactyly, Beals type" EXACT []
synonym: "DA9" EXACT []
synonym: "distal arthrogryposis type 9" EXACT []
synonym: "ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" EXACT []
synonym: "FBN2-RELATED CONDITION" BROAD []
synonym: "multiple contractures with arachnodactyly" EXACT []
xref: MESH:C536211
xref: NCI:C129865
xref: ORDO:115
is_a: DOID:0050646 ! distal arthrogryposis
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9005367 ! Arachnodactyly
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:0111596
name: distal arthrogryposis type 1
alt_id: DOID:9001339
alt_id: MESH:C565097
alt_id: MIM:126050
def: "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies. (DO)" [https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7039311 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8923936 "DO"]
synonym: "AMCD1" EXACT []
synonym: "DA1" EXACT []
synonym: "digitotalar dysmorphism" EXACT []
synonym: "distal arthrogryposis multiplex congenita, type 1" EXACT []
synonym: "distal arthrogryposis multiplex congenita, type I" EXACT []
synonym: "hereditary ulnar drift" EXACT []
xref: GARD:787
xref: MESH:C535378
xref: ORDO:1146
is_a: DOID:0050646 ! distal arthrogryposis
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0111597
name: distal arthrogryposis type 1A
def: "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12592607 "DO"]
synonym: "DA1A" EXACT []
xref: MIM:108120
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111596 ! distal arthrogryposis type 1

[Term]
id: DOID:0111598
name: distal arthrogryposis type 1B
def: "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20045868 "DO"]
synonym: "DA1B" EXACT []
xref: MIM:614335
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111596 ! distal arthrogryposis type 1

[Term]
id: DOID:0111599
name: distal arthrogryposis type 2B
def: "A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9012416 "DO"]
synonym: "arthrogryposis multiplex congenita, type 2B" EXACT []
synonym: "ARTHYRGRYPOSIS, DISTAL, TYPE 2B" RELATED []
synonym: "DA2B" EXACT []
synonym: "distal arthrogryposis multiplex congenita, type 2B" EXACT []
synonym: "distal arthrogryposis multiplex congenita type II, with craniofacial abnormalities" EXACT []
synonym: "Freeman-Sheldon syndrome variant" EXACT []
synonym: "FSSV" EXACT []
synonym: "Sheldon-Hall syndrome" EXACT []
synonym: "SHS" EXACT []
xref: MESH:C538400
is_a: DOID:9006523 ! Distal Arthrogryposis Type 2

[Term]
id: DOID:0111600
name: distal arthrogryposis type 2B1
def: "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12592607 "DO"]
synonym: "DA2B1" EXACT []
xref: MIM:601680
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111599 ! distal arthrogryposis type 2B

[Term]
id: DOID:0111601
name: distal arthrogryposis type 2B2
def: "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12865991 "DO"]
synonym: "DA2B2" EXACT []
xref: MIM:618435
xref: MONDO:0032750
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111599 ! distal arthrogryposis type 2B

[Term]
id: DOID:0111602
name: distal arthrogryposis type 2B3
def: "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16642020 "DO"]
synonym: "DA2B3" EXACT []
synonym: "distal arthrogryposis type 2B3 (Sheldon-Hall)" EXACT []
xref: MIM:618436
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111599 ! distal arthrogryposis type 2B

[Term]
id: DOID:0111603
name: distal arthrogryposis type 7
alt_id: MIM:158300
def: "A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15282353 "DO"]
synonym: "DA7" EXACT []
synonym: "Dutch-Kentucky syndrome" EXACT []
synonym: "Hecht-Beals syndrome" EXACT []
synonym: "Hecht Syndrome" EXACT []
synonym: "inability to completely open mouth and short finger-flexor tendons" EXACT []
synonym: "MYH8-RELATED CONDITION" BROAD []
synonym: "trismus-pseudocamptodactyly" EXACT []
synonym: "trismus-pseudocamptodactyly syndrome" EXACT []
xref: GARD:2621
xref: MESH:C535857
xref: ORDO:3377
is_a: DOID:0050646 ! distal arthrogryposis
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006588 ! Trismus
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0111604
name: Freeman-Sheldon syndrome
def: "A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. (DO)" [https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21032118 "DO"]
synonym: "craniocarpotarsal dysplasia" EXACT []
synonym: "craniocarpotarsal dystrophy" EXACT []
synonym: "FSS" EXACT []
synonym: "whistling face syndrome" EXACT []
synonym: "whistling face-windmill vane hand syndrome" EXACT []
xref: MESH:C535483
xref: NCI:C98931
xref: ORDO:2053
is_a: DOID:0050646 ! distal arthrogryposis
is_a: DOID:225 ! syndrome
is_a: DOID:2339 ! Crouzon syndrome

[Term]
id: DOID:0111605
name: distal arthrogryposis type 2A
def: "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16642020 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO"]
synonym: "DA2A" EXACT []
synonym: "distal arthrogryposis type 2A (Freeman-Sheldon)" EXACT []
xref: MIM:193700
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111604 ! Freeman-Sheldon syndrome

[Term]
id: DOID:0111606
name: autosomal recessive Whistling face syndrome
def: "A Freeman-Sheldon syndrome that has autosomal recessive inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20964128 "DO"]
xref: GARD:100024
xref: MIM:277720
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111604 ! Freeman-Sheldon syndrome

[Term]
id: DOID:0111607
name: distal arthrogryposis type 3
alt_id: MIM:114300
def: "A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24726473 "DO"]
synonym: "camptodactyly, cleft palate, and clubfoot" EXACT []
synonym: "camptodactyly-cleft palate-clubfoot syndrome" EXACT []
synonym: "DA3" EXACT []
synonym: "distal arthrogryposis multiplex congenita, type 2a" EXACT []
synonym: "distal arthrogryposis multiplex congenita, type IIa" EXACT []
synonym: "Gordon syndrome" EXACT []
xref: GARD:2553
xref: MESH:C537288
xref: ORDO:376
is_a: DOID:0050646 ! distal arthrogryposis
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11836 ! clubfoot
is_a: DOID:674 ! cleft palate
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0111608
name: distal arthrogryposis type 5
alt_id: MIM:108145
def: "A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23487782 "DO"]
synonym: "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome" EXACT []
synonym: "arthrogryposis with oculomotor limitation and electroretinal abnormalities" EXACT []
synonym: "DA5" EXACT []
synonym: "DAIIB" EXACT []
synonym: "distal arthrogryposis type IIb" EXACT []
synonym: "distal arthrogryposis with ophthalmoplegia" EXACT []
synonym: "oculomelic amyoplasia" EXACT []
xref: GARD:4047
xref: MESH:C537737
xref: MONDO:0007158
xref: ORDO:1154
is_a: DOID:0050646 ! distal arthrogryposis
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:5679 ! retinal disease

[Term]
id: DOID:0111609
name: distal arthrogryposis type 6
alt_id: MIM:108200
def: "A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5539065 "DO"]
synonym: "arthrogryposis and sensorineural deafness" EXACT []
synonym: "arthrogryposis-like hand anomaly and sensorineural deafness" EXACT []
synonym: "arthrogryposis-like hand anomaly-sensorineural deafness syndrome" EXACT []
synonym: "DA6" EXACT []
synonym: "familial hand abnormality and sensori-neural deafness" EXACT []
xref: GARD:784
xref: MESH:C535386
xref: ORDO:1144
is_a: DOID:0050646 ! distal arthrogryposis
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0111610
name: distal arthrogryposis type 4
alt_id: MIM:609128
def: "A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7039311 "DO"]
synonym: "arthrogryposis-severe scoliosis syndrome" EXACT []
synonym: "arthrogryposis with severe scoliosis" EXACT []
synonym: "DA4" EXACT []
synonym: "DAIID" EXACT []
synonym: "distal arthrogryposis type IID" EXACT []
xref: MESH:C563791
xref: ORDO:65720
is_a: DOID:0050646 ! distal arthrogryposis

[Term]
id: DOID:0111611
name: autosomal recessive spinocerebellar ataxia 4
alt_id: MIM:607317
def: "An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29604224 "DO"]
synonym: "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome" EXACT []
synonym: "SCA24" EXACT []
synonym: "SCAR4" EXACT []
synonym: "SCASI" EXACT []
synonym: "spinocerebellar ataxia 24" EXACT []
synonym: "spinocerebellar ataxia with saccadic intrusions" EXACT []
synonym: "VPS13D-RELATED CONDITION" EXACT []
xref: GARD:4952
xref: MESH:C537310
xref: ORDO:95434
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0111612
name: autosomal recessive spinocerebellar ataxia 3
alt_id: MIM:271250
def: "An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11175288 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4154794 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4434170 "DO"]
synonym: "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" EXACT []
synonym: "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" EXACT []
synonym: "autosomal recessive spinocerebellar ataxia type 3" EXACT []
synonym: "SCABD" EXACT []
synonym: "SCAR3" EXACT []
synonym: "spinocerebellar ataxia with blindness and deafness" EXACT []
xref: GARD:9971
xref: MESH:C537309
xref: ORDO:95433
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0111613
name: autosomal recessive spinocerebellar ataxia 23
def: "An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24658003 "DO"]
synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency" EXACT []
synonym: "SCAR23" EXACT []
xref: MIM:616949
xref: ORDO:404493
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0111614
name: autosomal recessive spinocerebellar ataxia 22
alt_id: MIM:616948
def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26157035 "DO"]
synonym: "SCAR22" EXACT []
xref: MESH:C542540
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0111615
name: autosomal recessive spinocerebellar ataxia 24
def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26872069 "DO"]
synonym: "SCAR24" EXACT []
synonym: "UBA5-RELATED CONDITION" BROAD []
xref: MIM:617133
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0111616
name: autosomal recessive spinocerebellar ataxia 27
def: "An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30084953 "DO"]
synonym: "SCAR27" EXACT []
xref: EFO:0010248
xref: MIM:618369
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0111617
name: autosomal recessive spinocerebellar ataxia 6
alt_id: MIM:608029
def: "An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12811539 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4003033 "DO"]
synonym: "autosomal recessive spinocerebellar ataxia type 6" EXACT []
synonym: "infantile nonprogressive cerebellar ataxia, autosomal recessive" EXACT []
synonym: "infantile-onset autosomal recessive nonprogressive cerebellar ataxia" EXACT []
synonym: "Norwegian infantile onset ataxia" EXACT []
synonym: "SCAR6" EXACT []
xref: GARD:4954
xref: MESH:C537312
xref: ORDO:284332
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0111618
name: autosomal recessive spinocerebellar ataxia 8
alt_id: MESH:C579934
alt_id: MIM:610743
def: "An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17159980 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27086870 "DO"]
synonym: "Arca1" EXACT []
synonym: "autosomal recessive ataxia, Beauce type" EXACT []
synonym: "Autosomal Recessive Cerebellar Ataxia Type 1" EXACT []
synonym: "recessive ataxia of Beauce" EXACT []
synonym: "SCAR8" EXACT []
synonym: "SYNE1-related autosomal recessive cerebellar ataxia" EXACT []
xref: GARD:12234
xref: MESH:C565188
xref: ORDO:88644
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0111619
name: combined D-2- and L-2-hydroxyglutaric aciduria
def: "A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. (DO)" [https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "DO", https://www.ncbi.nlm.nih.gov/pubmed/10963100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23561848 "DO"]
synonym: "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" EXACT []
synonym: "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria" EXACT []
synonym: "combined D,L-2-hydroxyglutaric aciduria" EXACT []
synonym: "D2L2AD" EXACT []
synonym: "D,L-2-HGA" EXACT []
synonym: "D,L-2-hydroxyglutaric acidemia" EXACT []
synonym: "D,L-2-hydroxyglutaric aciduria" EXACT []
synonym: "SLC25A1-RELATED CONDITION" BROAD []
xref: MIM:615182
xref: ORDO:356978
is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0111620
name: corneal dystrophy-perceptive deafness syndrome
alt_id: MIM:217400
def: "A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17220209 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5312820 "DO"]
synonym: "CDPD" EXACT []
synonym: "CDPD1" EXACT []
synonym: "congenital corneal dystrophy, progressive sensorineural deafness" EXACT []
synonym: "Corneal Dystrophy and Perceptive Deafness" EXACT []
synonym: "corneal dystrophy and sensorineural deafness" EXACT []
synonym: "corneal dystrophy with progressive deafness" EXACT []
synonym: "corneal endothelial dystrophy and perceptive deafness" EXACT []
synonym: "Harboyan syndrome" EXACT []
xref: GARD:1529
xref: MESH:C535473
xref: ORDO:1490
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:2566 ! corneal dystrophy
created_by: rgd
creation_date: 2018-01-17T17:46:52Z

[Term]
id: DOID:0111621
name: Temtamy syndrome
alt_id: MIM:218340
def: "A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23453666 "DO"]
synonym: "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome" EXACT []
synonym: "Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation" EXACT []
synonym: "Dysmorphism, corpus callosum agenesis and colobomas" EXACT []
synonym: "mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum" EXACT []
synonym: "Temtamy-Shalash syndrome" EXACT []
synonym: "TEMTYS" EXACT []
xref: GARD:5688
xref: MESH:C536959
xref: NCI:C148371
xref: ORDO:1777
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12270 ! coloboma
is_a: DOID:225 ! syndrome
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2019-07-09T08:33:00Z

[Term]
id: DOID:0111622
name: ACTH-independent macronodular adrenal hyperplasia
def: "A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. (DO)" [https://ghr.nlm.nih.gov/condition/primary-macronodular-adrenal-hyperplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/16215323 "DO"]
synonym: "Cushing syndrome due to macronodular adrenal hyperplasia" EXACT []
synonym: "massive macronodular adrenocortical disease" EXACT []
synonym: "MMAD" EXACT []
xref: EFO:0009041
xref: GARD:10824
xref: ORDO:189427
is_a: DOID:446 ! primary hyperaldosteronism
created_by: rgd
creation_date: 2018-02-07T14:46:31Z

[Term]
id: DOID:0111623
name: ACTH-independent macronodular adrenal hyperplasia 1
alt_id: MIM:219080
alt_id: OMIA:001937
def: "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12727968 "DO"]
synonym: "ACTH-independent adrenal Cushing syndrome, somatic" EXACT []
synonym: "ACTH-independent Cushing syndrome" EXACT []
synonym: "ACTH-independent macronodular adrenocortical hyperplasia" EXACT []
synonym: "adrenal Cushing syndrome, due to AIMAH" EXACT []
synonym: "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" EXACT []
synonym: "AIMAH" EXACT []
synonym: "AIMAH1" EXACT []
synonym: "corticotropin-independent macronodular adrenal hyperplasia" EXACT []
synonym: "primary macronodular adrenal hyperplasia" EXACT []
xref: MESH:C565662
is_a: DOID:0111622 ! ACTH-independent macronodular adrenal hyperplasia
is_a: DOID:9005158 ! Cushing Syndrome

[Term]
id: DOID:0111624
name: ACTH-independent macronodular adrenal hyperplasia 2
def: "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24283224 "DO"]
synonym: "AIMAH2" EXACT []
synonym: "ARMC5-RELATED CONDITION" EXACT []
synonym: "MACRONODULAR ADRENAL HYPERPLASIA 2" EXACT []
synonym: "primary macronodular adrenal hyperplasia" EXACT []
xref: EFO:0009148
xref: MIM:615954
is_a: DOID:0111622 ! ACTH-independent macronodular adrenal hyperplasia
is_a: DOID:9005158 ! Cushing Syndrome

[Term]
id: DOID:0111625
name: ventriculomegaly - cystic kidney disease
alt_id: MIM:219730
def: "A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2478019 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25557780 "DO"]
synonym: "congenital nephrosis-cerebral ventriculomegaly syndrome" EXACT []
synonym: "CRB2-RELATED CONDITION" BROAD []
synonym: "cystic kidney disease with ventriculomegaly" EXACT []
synonym: "VMCKD" EXACT []
xref: MESH:C565657
xref: ORDO:443988
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:9009131 ! Ventriculomegaly

[Term]
id: DOID:0111626
name: D-glyceric aciduria
alt_id: MIM:220120
def: "An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20949620 "DO"]
synonym: "deficiency of glycerate kinase" EXACT []
synonym: "D-glycerate kinase deficiency" EXACT []
synonym: "D-Glyceric Acidemia" EXACT []
synonym: "D-Glycericacidemia" EXACT []
synonym: "glycerate kinase deficiency" EXACT []
xref: GARD:234
xref: ICD10CM:E72.59
xref: MESH:C535767
xref: NCI:C128804
xref: ORDO:128804
xref: ORDO:941
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:0111627
name: DOORS syndrome
alt_id: MIM:220500
def: "A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. (DO)" [https://ghr.nlm.nih.gov/condition/doors-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/1132883 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24291220 "DO"]
synonym: "autosomal recessive deafness-onychodystrophy syndrome" EXACT []
synonym: "brachydactyly due to absence of distal phalanges" EXACT []
synonym: "deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome" EXACT []
synonym: "deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome" EXACT []
synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" EXACT []
synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" EXACT []
synonym: "Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome" EXACT []
synonym: "deafness-onychoosteodystrophy-intellectual disability syndrome" EXACT []
synonym: "digitorenocerebral syndrome" EXACT []
synonym: "DOORS" EXACT []
synonym: "DOOR syndrome" EXACT []
synonym: "DRC syndrome" EXACT []
synonym: "Eronen syndrome" EXACT []
xref: GARD:1685
xref: MESH:C563052
xref: ORDO:79500
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: gthayman
creation_date: 2019-04-10T05:17:17Z

[Term]
id: DOID:0111628
name: high myopia-sensorineural deafness syndrome
def: "A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. (DO)" [https://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23543054 "DO"]
synonym: "deafness and myopia" EXACT []
synonym: "deafness and myopia syndrome" EXACT []
synonym: "DFNMYP" EXACT []
xref: GARD:12844
xref: MIM:221200
xref: ORDO:363396
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:9002189 ! High Myopia
is_a: DOID:9008681 ! Deafness
created_by: mtutaj
creation_date: 2019-07-11T13:26:12Z

[Term]
id: DOID:0111629
name: dihydropyrimidinase deficiency
alt_id: MIM:222748
def: "A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3. (DO)" [https://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/29054612 "DO"]
synonym: "DIHYDROPYRIMIDINURIA" EXACT []
synonym: "DPH deficiency" EXACT []
synonym: "DPYSD" EXACT []
synonym: "DPYS deficiency" EXACT []
synonym: "DPYS-RELATED CONDITION" EXACT []
xref: GARD:12347
xref: MESH:C562815
xref: ORDO:38874
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050832 ! pyrimidine metabolic disorder

[Term]
id: DOID:0111630
name: familial erythrocytosis 8
def: "A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2542247 "DO"]
synonym: "Bisphosphoglycerate Mutase Deficiency" EXACT []
synonym: "BISPHOSPHOGLYCEROMUTASE DEFICIENCY" EXACT []
synonym: "BPGM DEFICIENCY" EXACT []
synonym: "diphosphoglycerate mutase deficiency of erythrocyte" EXACT []
synonym: "DPGM deficiency" EXACT []
synonym: "ECYT8" EXACT []
synonym: "hemolytic anemia due to diphosphoglycerate mutase deficiency" EXACT []
xref: MIM:222800
xref: ORDO:714
is_a: DOID:10780 ! primary polycythemia
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:0111631
name: familial erythrocytosis 7
def: "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10676771 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5913291 "DO"]
synonym: "alpha-globin type erythrocytosis" EXACT []
synonym: "alpha-globin type polycythemia" EXACT []
synonym: "ECYT7" EXACT []
synonym: "ERYTHROCYTOSIS 7" EXACT []
xref: MIM:617981
is_a: DOID:10780 ! primary polycythemia

[Term]
id: DOID:0111632
name: familial erythrocytosis 6
def: "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10676771 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17795074 "DO"]
synonym: "beta-globin type erythrocytosis" EXACT []
synonym: "beta-globin type polycythemia" EXACT []
synonym: "ECYT6" EXACT []
synonym: "erythrocytosis 6" EXACT []
xref: MIM:617980
is_a: DOID:10780 ! primary polycythemia
created_by: slaulede
creation_date: 2018-06-18T00:00:00Z

[Term]
id: DOID:0111633
name: congenital sucrase-isomaltase deficiency
alt_id: MIM:222900
def: "A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/3925457 "DO"]
synonym: "congenital sucrase-isomaltose malabsorption" EXACT []
synonym: "congenital sucrose intolerance" EXACT []
synonym: "congenital sucrose-isomaltase malabsorption" EXACT []
synonym: "Congenital Sucrose-Isomaltose Malabsorption" EXACT []
synonym: "CSID" EXACT []
synonym: "disaccharide intolerance" EXACT []
synonym: "Disaccharide intolerance, 1" EXACT []
synonym: "disaccharide intolerance I" EXACT []
synonym: "SI deficiency" EXACT []
synonym: "SI-RELATED CONDITION" EXACT []
synonym: "sucrase-isomaltase deficiency" EXACT []
xref: GARD:7710
xref: ICD10CM:E74.31
xref: MESH:C538139
xref: NCI:C128190
xref: ORDO:35122
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:0111634
name: autosomal recessive nonsyndromic deafness 99
def: "An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12673573 "DO"]
synonym: "autosomal recessive deafness 99" EXACT []
synonym: "DFNB99" EXACT []
xref: MIM:618481
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0111635
name: autosomal recessive nonsyndromic deafness 57
def: "An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29048736 "DO"]
synonym: "autosomal recessive deafness-57" EXACT []
synonym: "DFNB57" EXACT []
xref: MIM:618003
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0111636
name: autosomal recessive nonsyndromic deafness 113
def: "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29703829 "DO"]
synonym: "autosomal recessive deafness 113" EXACT []
synonym: "DFNB113" EXACT []
xref: MIM:618410
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0111637
name: autosomal recessive nonsyndromic deafness 112
def: "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24312468 "DO"]
synonym: "autosomal recessive deafness 112" EXACT []
synonym: "DFNB112" EXACT []
xref: MIM:618257
xref: MONDO:0032639
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0111638
name: autosomal recessive nonsyndromic deafness 100
def: "An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29590114 "DO"]
synonym: "autosomal recessive deafness 100" EXACT []
synonym: "DFNB100" EXACT []
xref: MIM:618422
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0111639
name: autosomal recessive nonsyndromic deafness 109
def: "An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29107558 "DO"]
synonym: "autosomal recessive deafness-109" EXACT []
synonym: "DFNB109" EXACT []
xref: MIM:618013
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0111640
name: autosomal recessive nonsyndromic deafness 111
def: "An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29961571 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29982980 "DO"]
synonym: "autosomal recessive deafness 111" EXACT []
synonym: "DFNB111" EXACT []
synonym: "MPZL2-RELATED CONDITION" EXACT []
xref: MIM:618145
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0111641
name: autosomal recessive nonsyndromic deafness 94
def: "An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25807530 "DO"]
synonym: "autosomal recessive deafness 94" EXACT []
synonym: "DFNB94" EXACT []
xref: MIM:618434
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0111642
name: autosomal recessive nonsyndromic deafness 114
def: "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30610177 "DO"]
synonym: "autosomal recessive deafness 114" EXACT []
synonym: "DFNB114" EXACT []
synonym: "hearing loss, autosomal recessive 114" EXACT []
xref: MIM:618456
xref: MONDO:0032761
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
created_by: slaulede
creation_date: 2018-04-12T13:58:33Z

[Term]
id: DOID:0111643
name: autosomal recessive nonsyndromic deafness 115
def: "An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30973865 "DO"]
synonym: "autosomal recessive deafness 115" EXACT []
synonym: "DFNB115" EXACT []
synonym: "hearing loss, autosomal recessive 115" EXACT []
xref: MIM:618457
xref: MONDO:0032762
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:0111644
name: autosomal recessive nonsyndromic deafness 110
def: "An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29449721 "DO"]
synonym: "autosomal recessive deafness-110" EXACT []
synonym: "DFNB110" EXACT []
xref: MIM:618094
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
created_by: slaulede
creation_date: 2019-07-02T08:14:05Z

[Term]
id: DOID:0111645
name: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
alt_id: MIM:608105
def: "An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31257402 "DO"]
synonym: "EPRPDC" EXACT []
synonym: "RE-PED-WC" EXACT []
synonym: "Rolandic epilepsy, with paroxysmal exercise-induced dystonia and writer's cramp" EXACT []
synonym: "Rolandic-type focal motor epilepsy and exercise-induced dystonia" EXACT []
xref: MESH:C535499
xref: ORDO:163727
is_a: DOID:0050703 ! infancy electroclinical syndrome
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3329 ! benign epilepsy with centrotemporal spikes
is_a: DOID:543 ! dystonia

[Term]
id: DOID:0111646
name: congenital lactase deficiency
alt_id: MIM:223000
def: "A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. (DO)" [https://ghr.nlm.nih.gov/condition/lactose-intolerance "DO", https://www.ncbi.nlm.nih.gov/pubmed/16400612 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5419986 "DO"]
synonym: "CLD" EXACT []
synonym: "congenital alactasia" EXACT []
synonym: "congenital alactasia syndrome" EXACT []
synonym: "congenital lactose intolerance" EXACT []
synonym: "congenital lactose malabsorption" EXACT []
synonym: "disaccharide Intolerance II" EXACT []
xref: ICD10CM:E73.0
xref: MESH:C562600
xref: ORDO:53690
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:0111647
name: Schopf-Schulz-Passarge syndrome
alt_id: MIM:224750
def: "An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19559398 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2947556 "DO"]
synonym: "eccrine tumors-ectodermal dysplasia" EXACT []
synonym: "eccrine tumors with ectodermal dysplasia" EXACT []
synonym: "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT []
synonym: "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis" EXACT []
synonym: "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT []
synonym: "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT []
synonym: "SSPS" EXACT []
xref: MESH:C565607
xref: ORDO:50944
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13714 ! anodontia
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:2173 ! eyelid benign neoplasm
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:0111648
name: ectopia lentis with ectopia of pupil
alt_id: MIM:225200
def: "An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20702823 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7696232 "DO"]
synonym: "ADAMTSL4-RELATED CONDITION" BROAD []
synonym: "Ectopia Lentis et Pupillae" EXACT []
xref: MESH:C563268
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:238 ! pupil disease
is_a: DOID:9004201 ! Ectopia Lentis
created_by: rgd
creation_date: 2017-12-04T00:00:00Z

[Term]
id: DOID:0111649
name: ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
alt_id: MIM:225280
def: "An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15805154 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6302256 "DO"]
synonym: "CDH3-RELATED CONDITION" BROAD []
synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy" EXACT []
synonym: "ectodermal dysplasia-ectrodactyly-macular dystrophy" EXACT []
synonym: "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome" EXACT []
synonym: "EEMS" EXACT []
synonym: "EEM Syndrome" EXACT []
xref: GARD:2078
xref: MESH:C536190
xref: ORDO:1897
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:4448 ! macular degeneration
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0111650
name: ectodermal dysplasia 13
def: "An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27049303 "DO"]
synonym: "ECTD13" EXACT []
synonym: "ectodermal dysplasia 13, hair/tooth type" EXACT []
xref: MIM:617392
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:0111651
name: ectodermal dysplasia 15
def: "An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30425301 "DO"]
synonym: "ECTD15" EXACT []
synonym: "Ectodermal Dysplasia 15, Hypohidrotic/Hair Type" EXACT []
xref: MIM:618535
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia

[Term]
id: DOID:0111652
name: ectodermal dysplasia 12
def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27838789 "DO"]
synonym: "ECTD12" EXACT []
synonym: "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type" EXACT []
xref: MIM:617337
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia

[Term]
id: DOID:0111653
name: ectodermal dysplasia 11A
def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17354266 "DO"]
synonym: "ECTD11A" EXACT []
synonym: "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" EXACT []
synonym: "HED" EXACT []
xref: MIM:614940
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia

[Term]
id: DOID:0111654
name: ectodermal dysplasia 11B
def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11780064 "DO"]
synonym: "ECTD11B" EXACT []
synonym: "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" EXACT []
xref: MIM:614941
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia

[Term]
id: DOID:0111655
name: pure hair and nail ectodermal dysplasia
def: "An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23063621 "DO"]
synonym: "Ectodermal Dysplasia, Pure Hair-Nail Type" EXACT []
xref: MESH:C566592
xref: ORDO:69084
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:4123 ! nail disease
is_a: DOID:421 ! hair disease

[Term]
id: DOID:0111656
name: ectodermal dysplasia 9
alt_id: OMIA:002157
def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23063621 "DO"]
synonym: "ECTD9" EXACT []
synonym: "ectodermal dysplasia 9, hair/nail type" EXACT []
xref: MIM:614931
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia

[Term]
id: DOID:0111657
name: ectodermal dysplasia 5
def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15675952 "DO"]
synonym: "ECTD5" EXACT []
synonym: "ectodermal dysplasia 5, hair/nail type" EXACT []
xref: MIM:614927
xref: MONDO:0013973
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia

[Term]
id: DOID:0111658
name: ectodermal dysplasia 4
def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16525032 "DO"]
synonym: "ECTD4" EXACT []
synonym: "ectodermal dysplasia 4, hair/nail type" EXACT []
xref: MIM:602032
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia

[Term]
id: DOID:0111659
name: ectodermal dysplasia 6
def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17107387 "DO"]
synonym: "ECTD6" EXACT []
synonym: "ectodermal dysplasia 6, hair/nail type" EXACT []
xref: MIM:614928
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia

[Term]
id: DOID:0111660
name: ectodermal dysplasia 7
def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24714551 "DO"]
synonym: "ECTD7" EXACT []
synonym: "ectodermal dysplasia 7, hair/nail type" EXACT []
xref: MIM:614929
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia

[Term]
id: DOID:0111661
name: ectodermal dysplasia 8
def: "An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18184143 "DO", https://www.ncbi.nlm.nih.gov/pubmed/856958 "DO"]
synonym: "ECTD8" EXACT []
synonym: "ectodermal dysplasia 8, hair/tooth/nail type" EXACT []
synonym: "Fried's tooth and nail syndrome" EXACT []
xref: MIM:602401
xref: ORDO:99672
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:0111662
name: ectodermal dysplasia 14
def: "An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27736875 "DO"]
synonym: "ECTD14" EXACT []
synonym: "ECTN14" EXACT []
synonym: "ectodermal dysplasia 14, hair/tooth type with hypohidrosis" NARROW []
synonym: "ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS" EXACT []
synonym: "Ectodermal dysplasia-14 of the hair/tooth type" EXACT []
synonym: "TSPEAR-related disorder of tooth and hair follicle morphogenesis" EXACT []
xref: MIM:618180
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2121 ! ectodermal dysplasia
created_by: slaulede
creation_date: 2018-11-09T00:00:00Z

[Term]
id: DOID:0111663
name: ectodermal dysplasia 10A
alt_id: MIM:129490
def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10431241 "DO"]
synonym: "anhidrotic ectodermal dysplasia 3" EXACT []
synonym: "autosomal dominant ectodermal dysplasia-10A" EXACT []
synonym: "autosomal dominant ectodermal dysplasia 10A, hypohidrotic/hair/tooth type" EXACT []
synonym: "AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA" EXACT []
synonym: "AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME" EXACT []
synonym: "ECTD10A" EXACT []
synonym: "ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT" EXACT []
synonym: "HED" EXACT []
xref: MESH:D053359
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia

[Term]
id: DOID:0111664
name: ectodermal dysplasia 1
alt_id: MIM:305100
alt_id: OMIA:000543
def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8434608 "DO"]
synonym: "anhidrotic ectodermal dysplasia 1" EXACT []
synonym: "anhydrotic ectodermal dysplasia 1" EXACT []
synonym: "Christ Siemens Touraine syndrome" EXACT []
synonym: "CST syndrome" EXACT []
synonym: "CST syndromes" EXACT []
synonym: "ECTD1" EXACT []
synonym: "ED1" EXACT []
synonym: "EDA" EXACT []
synonym: "EDA1" EXACT []
synonym: "HED1" EXACT []
synonym: "hypohidrotic ectodermal dysplasia 1" EXACT []
synonym: "XHED" EXACT []
synonym: "XLHED" EXACT []
synonym: "X-linked anhidrotic ectodermal dysplasia" EXACT []
synonym: "X-linked anhydrotic ectodermal dysplasia" EXACT []
synonym: "X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type" EXACT []
synonym: "X-linked hypohidrotic ectodermal dysplasia" EXACT []
synonym: "X-linked hypohidrotic ectodermal dysplasia 1" EXACT []
synonym: "X-linked hypohydridic ectodermal dysplasia" EXACT []
xref: MESH:D053358
xref: ORDO:181
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia
created_by: rgd
creation_date: 2017-03-03T00:00:00Z

[Term]
id: DOID:0111665
name: ectodermal dysplasia 10B
alt_id: MIM:224900
def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10431241 "DO"]
synonym: "anhidridic ectodermal dysplasia, autosomal recessive" BROAD []
synonym: "anhidrotic ectodermal dysplasia, autosomal recessive" BROAD []
synonym: "anhydridic ectodermal dysplasia, autosomal recessive" BROAD []
synonym: "anhydrotic ectodermal dysplasia, autosomal recessive" BROAD []
synonym: "AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME" EXACT []
synonym: "ECTD10B" EXACT []
synonym: "ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive" EXACT []
synonym: "ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE" EXACT []
synonym: "EDA" EXACT []
synonym: "hypohidrotic ectodermal dysplasia, autosomal recessive" BROAD []
xref: MESH:D053360
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia

[Term]
id: DOID:0111666
name: proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
alt_id: MIM:225790
def: "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20206334 "DO"]
synonym: "cerebral proliferative glomeruloid vasculopathy" EXACT []
synonym: "encephaloclastic proliferative vasculopathy" EXACT []
synonym: "EPV" EXACT []
synonym: "Fowler syndrome" EXACT []
synonym: "Fowler vasculopathy" EXACT []
synonym: "Hydranencephaly, Fowler Type" EXACT []
synonym: "hydrocephaly-hydranencephaly due to cerebral vasculopathy" EXACT []
synonym: "proliferative vasculopathy and hydranencephaly/hydrocephaly" EXACT []
synonym: "PVHH" EXACT []
xref: MESH:C565593
xref: ORDO:221126
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:4626 ! hydranencephaly

[Term]
id: DOID:0111667
name: enterokinase deficiency
alt_id: MIM:226200
def: "An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11719902 "DO"]
synonym: "congenital enterokinase deficiency" EXACT []
synonym: "congenital enteropathy due to enteropeptidase deficiency" EXACT []
synonym: "deficiency of enteropeptidase" EXACT []
synonym: "enteropeptidase deficiency" EXACT []
synonym: "TMPRSS15-RELATED CONDITION" EXACT []
xref: MESH:C562649
xref: ORDO:168601
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5295 ! intestinal disease
is_a: DOID:655 ! inherited metabolic disorder
created_by: slaulede
creation_date: 2018-07-10T15:38:52Z

[Term]
id: DOID:0111668
name: Kohlschutter-Tonz syndrome
alt_id: MIM:226750
def: "A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22424600 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22482807 "DO"]
synonym: "amelocerebrohypohidrotic syndrome" EXACT []
synonym: "epilepsy and yellow teeth" EXACT []
synonym: "epilepsy-dementia-amelogenesis imperfecta" EXACT []
synonym: "epilepsy-dementia-amelogenesis imperfecta syndrome" EXACT []
synonym: "epilepsy, dementia, and amelogenesis imperfecta" EXACT []
synonym: "Kohlschutter's syndrome" EXACT []
synonym: "Kohlschutter syndrome" EXACT []
synonym: "KTZS" EXACT []
xref: GARD:3128
xref: MESH:C537213
xref: ORDO:1946
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1307 ! dementia
is_a: DOID:1826 ! epilepsy
is_a: DOID:2187 ! amelogenesis imperfecta
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0111669
name: hyaline fibromatosis syndrome
alt_id: MIM:228600
def: "A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22383261 "DO"]
synonym: "Fibromatosis Hyalinica Multiplex Juvenilis" EXACT []
synonym: "Fibromatosis Juvenile Hyaline" EXACT []
synonym: "HFS" EXACT []
synonym: "hyaline fibromatosis syndromes" EXACT []
synonym: "infantile systemic hyalinoses" EXACT []
synonym: "Infantile Systemic Hyalinosis" EXACT []
synonym: "inherited systemic hyalinosis" EXACT []
synonym: "juvenile hyaline fibromatoses" EXACT []
synonym: "juvenile hyalinoses" EXACT []
synonym: "Juvenile Hyalinosis" EXACT []
synonym: "Murray Syndrome" EXACT []
synonym: "Puretic Syndrome" EXACT []
synonym: "Puretic Syndromes" EXACT []
synonym: "systemic hyalinoses" EXACT []
synonym: "systemic hyalinosis" EXACT []
synonym: "systemic juvenile hyalinoses" EXACT []
synonym: "systemic juvenile hyalinosis" EXACT []
xref: MESH:D057770
xref: NCI:C98297
xref: ORDO:498474
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0111670
name: primary hyperoxaluria type 1
alt_id: MIM:259900
alt_id: OMIA:001672
def: "A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19479957 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2039493 "DO"]
synonym: "alanine-glyoxylate aminotransferase deficiency" EXACT []
synonym: "glycolic aciduria" EXACT []
synonym: "Hepatic AGT Deficiency" EXACT []
synonym: "HP1" EXACT []
synonym: "HYPEROXALURIA, PRIMARY, TYPE I" EXACT []
synonym: "Oxalosis 1" EXACT []
synonym: "oxalosis I" EXACT []
synonym: "peroxisomal alanine glyoxylate aminotransferase deficiency" EXACT []
synonym: "PH1" EXACT []
synonym: "primary hyperoxaluria type I" EXACT []
synonym: "serine:pyruvate aminotransferase deficiency" EXACT []
xref: GARD:2835
xref: MESH:C536414
xref: NCI:C123212
xref: ORDO:93598
is_a: DOID:2977 ! primary hyperoxaluria

[Term]
id: DOID:0111671
name: primary hyperoxaluria type 2
alt_id: MIM:260000
def: "A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK2692/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10484776 "DO"]
synonym: "D-glycerate dehydrogenase deficiency" EXACT []
synonym: "glyceric aciduria" EXACT []
synonym: "glyoxylate reductase-hydroxypyruvate reductase deficiency" EXACT []
synonym: "HP2" EXACT []
synonym: "L-glyceric aciduria" EXACT []
synonym: "oxalosis 2" EXACT []
synonym: "oxalosis II" EXACT []
synonym: "primary hyperoxaluria type II" EXACT []
xref: GARD:2836
xref: MESH:C536415
xref: NCI:C123213
xref: ORDO:93599
is_a: DOID:2977 ! primary hyperoxaluria

[Term]
id: DOID:0111672
name: primary hyperoxaluria type 3
def: "A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK316514/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26340091 "DO"]
synonym: "HP3" EXACT []
synonym: "PH III" EXACT []
synonym: "primary hyperoxaluria type III" EXACT []
xref: GARD:10738
xref: MIM:613616
xref: MONDO:0013327
xref: NCI:C123214
xref: ORDO:93600
is_a: DOID:2977 ! primary hyperoxaluria

[Term]
id: DOID:0111673
name: Saul-Wilson syndrome
def: "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30290151 "DO"]
synonym: "MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA" EXACT []
synonym: "microcephalic osteodysplastic dysplasia, Saul-Wilson type" EXACT []
synonym: "SWILS" EXACT []
xref: MIM:618150
xref: ORDO:85172
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2256 ! osteochondrodysplasia
created_by: rgd
creation_date: 2015-12-08T00:00:00Z

[Term]
id: DOID:0111674
name: intellectual developmental disorder with short stature and behavioral abnormalities
alt_id: MIM:618687
def: "A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31607425 "DO"]
synonym: "IDDSSBA" EXACT []
xref: EFO:0010652
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0111675
name: neurooculocardiogenitourinary syndrome
def: "A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31327510 "DO"]
synonym: "NOCGUS" EXACT []
xref: EFO:0010663
xref: MIM:618652
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0111676
name: high molecular weight kininogen deficiency
alt_id: MIM:228960
def: "A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12576314 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2989293 "DO"]
synonym: "congenital high-molecular-weight kininogen deficiency" EXACT []
synonym: "Fitzgerald Trait" EXACT []
synonym: "Flaujeac Factor Deficiency" EXACT []
synonym: "FLAUJEAC TRAIT" NARROW []
synonym: "HMWK Deficiency" EXACT []
synonym: "KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT AND LOW MOLECULAR WEIGHT" NARROW []
synonym: "total kininogen deficiency" EXACT []
synonym: "Williams trait" NARROW []
xref: GARD:2684
xref: MESH:C537060
xref: NCI:C98946
xref: ORDO:483
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:0111677
name: familial benign fleck retina
alt_id: MIM:228980
def: "A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22137173 "DO"]
synonym: "FRFB" EXACT []
xref: MESH:C565564
xref: ORDO:363989
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5679 ! retinal disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:0111678
name: hereditary folate malabsorption
alt_id: MIM:229050
def: "A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption "DO", https://www.ncbi.nlm.nih.gov/pubmed/17129779 "DO"]
synonym: "congenital defect of folate absorption" EXACT []
synonym: "congenital folate malabsorption" EXACT []
synonym: "folic acid transport defect" EXACT []
xref: GARD:12983
xref: MESH:C562799
xref: NCI:C156424
xref: ORDO:90045
is_a: DOID:0050718 ! vitamin metabolic disorder
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14026 ! folic acid deficiency anemia
is_a: DOID:9002984 ! Malabsorption Syndromes

[Term]
id: DOID:0111679
name: glutamate formiminotransferase deficiency
def: "A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3. (DO)" [https://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/12815595 "DO"]
synonym: "Arakawa syndrome 1" EXACT []
synonym: "FIGLUria" EXACT []
synonym: "FIGLU-Uria" EXACT []
synonym: "formiminoglutamic acidemia" EXACT []
synonym: "formiminoglutamic aciduria" EXACT []
synonym: "formiminoglutamicaciduria (FIGLU-uria)" EXACT []
synonym: "formiminotransferase cyclodeaminase deficiency" EXACT []
synonym: "formiminotransferase deficiency" EXACT []
synonym: "formiminotransferase deficiency syndrome" EXACT []
synonym: "FTCD deficiency" EXACT []
xref: GARD:9279
xref: MESH:C537425
xref: MIM:229100
xref: MONDO:0009240
xref: ORDO:51208
is_a: DOID:0050718 ! vitamin metabolic disorder
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:0111680
name: essential fructosuria
alt_id: DOID:9001168
alt_id: MIM:229800
def: "A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7833921 "DO"]
synonym: "Essential benign fructosuria" EXACT []
synonym: "fructokinase deficiency" EXACT []
synonym: "Fructosuria" EXACT []
synonym: "Hepatic fructokinase deficiency" EXACT []
synonym: "Ketohexokinase deficiency" EXACT []
xref: ICD10CM:E74.11
xref: MESH:C538068
xref: ORDO:2056
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9000875 ! Fructose Metabolism, Inborn Errors

[Term]
id: DOID:0111681
name: glutamate-cysteine ligase deficiency
alt_id: MIM:230450
def: "An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10515893 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5058793 "DO"]
synonym: "gamma-glutamylcysteine synthetase deficiency" EXACT []
synonym: "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" EXACT []
xref: MESH:C565557
xref: ORDO:33574
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:583 ! hemolytic anemia
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:0111682
name: diffuse cystic renal dysplasia
alt_id: MIM:601331
def: "A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21922595 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8725780 "DO"]
synonym: "CYSRD" EXACT []
synonym: "susceptibility to cystic renal dysplasia" EXACT []
xref: GARD:4658
xref: MESH:C537755
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2975 ! cystic kidney disease

[Term]
id: DOID:0111683
name: neurofibromatosis-Noonan syndrome
alt_id: MIM:601321
def: "A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12707950 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2411134 "DO"]
synonym: "neurofibromatosis type 1-Noonan syndrome" EXACT []
synonym: "neurofibromatosis with Noonan phenotype" EXACT []
synonym: "NFNS" EXACT []
xref: GARD:372
xref: MESH:C537393
xref: ORDO:638
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080690 ! RASopathy
is_a: DOID:3490 ! Noonan syndrome
is_a: DOID:8712 ! neurofibromatosis

[Term]
id: DOID:0111684
name: hereditary mixed polyposis syndrome
def: "An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8644741 "DO"]
synonym: "HMPS" EXACT []
xref: MIM:PS601228
xref: ORDO:157794
is_a: DOID:0050424 ! familial adenomatous polyposis

[Term]
id: DOID:0111685
name: hereditary mixed polyposis syndrome 1
alt_id: MIM:601228
def: "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22561515 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8644741 "DO"]
synonym: "chromosome 15q13-q14 duplication syndrome, 40-KB" EXACT []
synonym: "colorectal adenoma and carcinoma 1" NARROW []
synonym: "colorectal cancer, susceptibility to, 4" NARROW []
synonym: "colorectal cancer, susceptibility to, on chromosome 15" NARROW []
synonym: "CRAC1" EXACT []
synonym: "CRCS4" NARROW []
synonym: "HMPS1" EXACT []
xref: MESH:C563365
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:0111684 ! hereditary mixed polyposis syndrome

[Term]
id: DOID:0111686
name: hereditary mixed polyposis syndrome 2
alt_id: MIM:610069
def: "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16525031 "DO"]
synonym: "HMPS2" EXACT []
xref: MESH:C566451
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111684 ! hereditary mixed polyposis syndrome

[Term]
id: DOID:0111687
name: Potocki-Shaffer syndrome
alt_id: MIM:601224
def: "A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. (DO)" [https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/20140962 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8644736 "DO"]
synonym: "11p11.2 deletion" EXACT []
synonym: "chromosome 11p11.2 deletion syndrome" EXACT []
synonym: "defect11 syndrome" EXACT []
synonym: "deletion of chromosome 11p11.2" EXACT []
synonym: "P11PDS" EXACT []
synonym: "proximal 11P deletion syndrome" EXACT []
synonym: "PSS" EXACT []
xref: GARD:9762
xref: MESH:C538356
xref: NCI:C75456
xref: ORDO:52022
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:206 ! hereditary multiple exostoses

[Term]
id: DOID:0111688
name: Ayme-Gripp syndrome
alt_id: MIM:601088
def: "A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25865493 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8834052 "DO"]
synonym: "AYGRP" EXACT []
synonym: "congenital cataracts with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation" EXACT []
xref: EFO:0009020
xref: MESH:C563390
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:0111689
name: familial adult myoclonic epilepsy
def: "An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20548044 "DO"]
synonym: "BAFME" EXACT []
synonym: "benign adult familial myoclonic epilepsy" EXACT []
synonym: "benign adult familial myoclonus epilepsy" EXACT []
synonym: "FAME" EXACT []
synonym: "familial cortical myoclonic tremor and epilepsy" EXACT []
synonym: "FCMTE" EXACT []
synonym: "FMCTE" EXACT []
xref: MIM:PS601068
xref: ORDO:86814
is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome
is_a: DOID:9005154 ! Myoclonic Epilepsies

[Term]
id: DOID:0111690
name: familial adult myoclonic epilepsy 1
alt_id: MIM:601068
def: "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29507423 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29939203 "DO"]
synonym: "BAFME1" EXACT []
synonym: "benign adult familial myoclonic epilepsy 1" EXACT []
synonym: "benign adult familial myoclonic epilepsy, type 1" EXACT []
synonym: "FAME1" EXACT []
synonym: "familial cortical myoclonic tremor and epilepsy 1" EXACT []
synonym: "familial cortical myoclonic tremor with epilepsy" EXACT []
synonym: "familial cortical myoclonic tremor with epilepsy 1" EXACT []
synonym: "familial cortical tremor" EXACT []
synonym: "FCMTE1" EXACT []
xref: MESH:C563399
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111689 ! familial adult myoclonic epilepsy

[Term]
id: DOID:0111691
name: familial adult myoclonic epilepsy 5
def: "A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23518707 "DO"]
synonym: "FAME5" EXACT []
synonym: "familial cortical myoclonic tremor and epilepsy 5" EXACT []
synonym: "familial cortical myoclonic tremor with epilepsy 5" EXACT []
synonym: "FCMTE5" EXACT []
xref: MIM:615400
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111689 ! familial adult myoclonic epilepsy

[Term]
id: DOID:0111692
name: familial adult myoclonic epilepsy 2
alt_id: MIM:607876
def: "A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22491192 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24114805 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31664034 "DO"]
synonym: "ADCME" EXACT []
synonym: "BAFME2" EXACT []
synonym: "benign adult familial myoclonic epilepsy 2" EXACT []
synonym: "benign adult familial myoclonic epilepsy type 2" EXACT []
synonym: "cortical myoclonus and epilepsy, autosomal dominant" EXACT []
synonym: "FAME2" EXACT []
synonym: "familial cortical myoclonic tremor and epilepsy 2" EXACT []
synonym: "familial cortical myoclonic tremor with epilepsy 2" EXACT []
synonym: "FCMTE2" EXACT []
xref: MESH:C564313
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111689 ! familial adult myoclonic epilepsy
created_by: rgd
creation_date: 2017-10-31T13:41:25Z

[Term]
id: DOID:0111693
name: familial adult myoclonic epilepsy 4
def: "A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31539032 "DO"]
synonym: "FAME4" EXACT []
synonym: "familial cortical myoclonic tremor and epilepsy 4" EXACT []
synonym: "familial cortical myoclonic tremor with epilepsy 4" EXACT []
synonym: "FCMTE4" EXACT []
xref: MIM:615127
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111689 ! familial adult myoclonic epilepsy
created_by: gthayman
creation_date: 2019-04-30T14:46:13Z

[Term]
id: DOID:0111694
name: familial adult myoclonic epilepsy 7
def: "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29507423 "DO"]
synonym: "BAFME7" EXACT []
synonym: "BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 7" EXACT []
synonym: "FAME7" EXACT []
synonym: "familial cortical myoclonic tremor and epilepsy 7" EXACT []
synonym: "familial cortical myoclonic tremor with epilepsy 7" EXACT []
synonym: "FCMTE7" EXACT []
xref: MIM:618075
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111689 ! familial adult myoclonic epilepsy

[Term]
id: DOID:0111695
name: familial adult myoclonic epilepsy 3
alt_id: MIM:613608
def: "A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31664039 "DO"]
synonym: "FAME3" EXACT []
synonym: "familial cortical myoclonic tremor and epilepsy 3" EXACT []
synonym: "familial cortical myoclonic tremor with epilepsy 3" EXACT []
synonym: "FCMTE3" EXACT []
xref: MESH:C567098
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111689 ! familial adult myoclonic epilepsy

[Term]
id: DOID:0111696
name: familial adult myoclonic epilepsy 6
def: "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29507423 "DO"]
synonym: "BAFME6" EXACT []
synonym: "benign adult familial myoclonic epilepsy 6" EXACT []
synonym: "FAME6" EXACT []
synonym: "familial cortical myoclonic tremor and epilepsy 6" EXACT []
synonym: "familial cortical myoclonic tremor with epilepsy 6" EXACT []
synonym: "FCMTE6" EXACT []
xref: MIM:618074
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111689 ! familial adult myoclonic epilepsy

[Term]
id: DOID:0111697
name: cleft palate, cardiac defects, and intellectual disabillity
alt_id: MIM:600987
def: "A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24678003 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8825606 "DO"]
synonym: "Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies" EXACT []
synonym: "cleft palate, cardiac defects, and impaired intellectual development" EXACT []
synonym: "cleft palate, cardiac defects, and mental retardation" EXACT []
synonym: "CPCMR" EXACT []
synonym: "MEIS2-related disorder" BROAD []
xref: MESH:C563414
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10907 ! microcephaly
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:674 ! cleft palate
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:0111698
name: proprotein convertase 1/3 deficiency
def: "A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14617756 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7477119 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9207799 "DO"]
synonym: "obesity and endocrinopathy due to impaired processing of prohormones" EXACT []
synonym: "obesity due to prohormone convertase I deficiency" EXACT []
synonym: "obesity with impaired prohormone processing" EXACT []
synonym: "PCI deficiency" EXACT []
synonym: "PCSK1-RELATED CONDITION" EXACT []
xref: MESH:C563423
xref: MIM:600955
xref: MONDO:0010961
xref: ORDO:71528
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:28 ! endocrine system disease
is_a: DOID:9970 ! obesity
created_by: mtutaj
creation_date: 2019-03-21T11:28:01Z

[Term]
id: DOID:0111699
name: Van den Ende-Gupta syndrome
alt_id: MIM:600920
alt_id: OMIA:002016
def: "A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23808541 "DO"]
synonym: "blepharophimosis, arachnodactyly, and congenital contractures" EXACT []
synonym: "Marden Walker Like Syndrome" EXACT []
synonym: "Marden-Walker-like syndrome without psychmotor retardation" EXACT []
synonym: "Marden Walker like syndrome without psychomotor retardation" EXACT []
synonym: "VDEGS" EXACT []
xref: GARD:3382
xref: MESH:C535909
xref: ORDO:2460
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:225 ! syndrome
is_a: DOID:9005367 ! Arachnodactyly
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0111700
name: ankyrin-B-related cardiac arrhythmia
alt_id: MIM:600919
def: "A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. (DO)" [https://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15178757 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17242276 "DO"]
synonym: "ANK2-ASSOCIATED COMPLEX NEURODEVELOPMENTAL DISORDER" RELATED []
synonym: "ANK2-ASSOCIATED NEURODEVELOPMENTAL DISORDER" RELATED []
synonym: "ANK2-RELATED AUTISM" RELATED []
synonym: "ANK2-RELATED CONDITION" BROAD []
synonym: "Ankyrin-B Syndrome" EXACT []
synonym: "LONG QT SYNDROME 4" RELATED []
synonym: "LQT4" RELATED []
xref: GARD:13294
xref: MESH:C566996
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:0111701
name: long QT syndrome 4
def: "A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7485162 "DO"]
synonym: "ANK2-ASSOCIATED COMPLEX NEURODEVELOPMENTAL DISORDER" RELATED []
synonym: "ANK2-ASSOCIATED NEURODEVELOPMENTAL DISORDER" RELATED []
synonym: "ANK2-RELATED AUTISM" RELATED []
synonym: "LQT4" EXACT []
xref: GARD:10432
xref: MESH:C563428
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:0111702
name: loose anagen hair syndrome
alt_id: MIM:600628
def: "An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1705765 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2915059 "DO"]
synonym: "loose anagen syndrome" EXACT []
synonym: "loose anagen syndromes" EXACT []
xref: GARD:3287
xref: MESH:D058247
xref: ORDO:168
is_a: DOID:225 ! syndrome
is_a: DOID:987 ! alopecia

[Term]
id: DOID:0111703
name: familial hypertryptophanemia
alt_id: DOID:9009018
def: "An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28285122 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7628119 "DO"]
synonym: "Hypertryptophanemia" EXACT []
synonym: "HYPTRP" EXACT []
xref: GARD:2871
xref: MESH:C563467
xref: MIM:600627
xref: MONDO:0010907
xref: ORDO:2224
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: slaulede
creation_date: 2018-06-18T16:11:15Z

[Term]
id: DOID:0111704
name: chromosome 2q37 deletion syndrome
alt_id: MIM:600430
def: "A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. (DO)" [https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23188045 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24715439 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25402011 "DO"]
synonym: "2q37 deletion syndrome" EXACT []
synonym: "2q37 microdeletion syndrome" EXACT []
synonym: "Albright's hereditary osteodystrophy-like syndrome" EXACT []
synonym: "Albright hereditary osteodystrophy-like syndrome" EXACT []
synonym: "Albright hereditary osteodystrophy type 3" EXACT []
synonym: "BDMR" EXACT []
synonym: "brachydactyly-intellectual disability syndrome" EXACT []
synonym: "Brachydactyly-Mental Retardation syndrome" EXACT []
synonym: "Chromosome 2, monosomy 2q37" EXACT []
synonym: "Del(2)(q37)" EXACT []
synonym: "Deletion 2q37" EXACT []
synonym: "monosomy 2q37" EXACT []
synonym: "monosomy 2q37qter" EXACT []
xref: MESH:C538317
xref: NCI:C129021
xref: ORDO:1001
is_a: DOID:0060388 ! chromosomal deletion syndrome

[Term]
id: DOID:0111705
name: oculoectodermal syndrome
alt_id: MIM:600268
def: "An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25808193 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26970110 "DO"]
synonym: "aplasia cutis congenita-epibulbar dermoids syndrome" EXACT []
synonym: "Aplasia Cutis Congenita with Epibulbar Dermoids" EXACT []
synonym: "oculoectodermal syndrome, somatic" EXACT []
synonym: "OES" EXACT []
synonym: "Toriello-Lacassie-Droste syndrome" EXACT []
xref: GARD:10366
xref: MESH:C563969
xref: ORDO:3339
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:2658 ! dermoid cyst
created_by: mtutaj
creation_date: 2019-03-26T14:28:13Z

[Term]
id: DOID:0111706
name: oblique facial clefting 1
alt_id: MIM:600251
def: "An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23. (DO)" [https://en.wikipedia.org/wiki/Craniofacial_cleft#Tessier_classification "DO", https://www.ncbi.nlm.nih.gov/pubmed/21703590 "DO", https://www.ncbi.nlm.nih.gov/pubmed/820824 "DO"]
synonym: "OBLFC1" EXACT []
synonym: "oblique facial clefts" EXACT []
synonym: "Oculomaxillofacial Dysostosis" EXACT []
synonym: "oculomaxillofacial dysplasia with oblique facial clefts" EXACT []
synonym: "Richieri Costa Gorlin syndrome" EXACT []
synonym: "SPECC1L-RELATED CONDITION" BROAD []
synonym: "Tessier number 4 facial cleft" EXACT []
xref: MESH:C537736
is_a: DOID:0050567 ! orofacial cleft
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2339 ! Crouzon syndrome
is_a: DOID:9004563 ! Maxillofacial Abnormalities
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:0111707
name: Bothnian type palmoplantar keratoderma
def: "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23830519 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7531539 "DO"]
synonym: "Diffuse Palmoplantar Keratoderma, Bothnian Type" EXACT []
synonym: "PPKB" EXACT []
xref: GARD:1862
xref: MESH:C536173
xref: MIM:600231
xref: MONDO:0010849
xref: ORDO:2337
is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9002223 ! Diffuse Palmoplantar Keratoderma

[Term]
id: DOID:0111708
name: focal nonepidermolytic palmoplantar keratoderma
def: "A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. (DO)" [https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Focal "DO", https://www.ncbi.nlm.nih.gov/pubmed/21176769 "DO"]
synonym: "early onset tylosis (type B)" EXACT []
synonym: "familial tylosis" EXACT []
synonym: "FNEPPK" EXACT []
synonym: "Focal non epidermolytic palmoplantar keratoderma" EXACT []
synonym: "Focal Palmoplantar Keratoderma" EXACT []
synonym: "hyperkeratosis of the palms and soles and esophageal papillomas" EXACT []
synonym: "isolated focal non-epidermolytic palmoplantar keratoderma" EXACT []
synonym: "late onset tylosis (type A)" EXACT []
xref: MESH:C538682
xref: ORDO:448264
is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma
is_a: DOID:2615 ! papilloma

[Term]
id: DOID:0111709
name: focal nonepidermolytic palmoplantar keratoderma 1
alt_id: OMIA:002088
def: "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8595410 "DO"]
synonym: "FNEPPK1" EXACT []
synonym: "PPKFNE" EXACT []
xref: MIM:613000
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111708 ! focal nonepidermolytic palmoplantar keratoderma

[Term]
id: DOID:0111710
name: focal or diffuse nonepidermolytic palmoplantar keratoderma
def: "A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19609311 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21801157 "DO"]
synonym: "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering" EXACT []
synonym: "PPKNEFD" EXACT []
xref: MIM:615735
xref: ORDO:402003
is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma
is_a: DOID:0050736 ! autosomal dominant disease

[Term]
id: DOID:0111711
name: focal nonepidermolytic palmoplantar keratoderma 2
def: "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25285920 "DO"]
synonym: "FNEPPK2" EXACT []
xref: MIM:616400
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111708 ! focal nonepidermolytic palmoplantar keratoderma

[Term]
id: DOID:0111712
name: Kagami-Ogata syndrome
alt_id: MIM:608149
def: "A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10951461 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12938037 "DO"]
synonym: "Chromosome 14, Paternal Uniparental Disomy" EXACT []
synonym: "Paternal uniparental disomy 14" EXACT []
xref: MESH:C536471
xref: ORDO:254519
is_a: DOID:225 ! syndrome
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:0111713
name: Temple syndrome
def: "A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18454453 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24891339 "DO"]
synonym: "maternal uniparental disomy of chromosome 14" EXACT []
xref: MIM:616222
xref: NCI:C120409
xref: ORDO:254516
is_a: DOID:225 ! syndrome
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:0111714
name: Mulchandani-Bhoj-Conlin syndrome
def: "A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26248010 "DO"]
synonym: "maternal uniparental disomy of chromosome 20" EXACT []
synonym: "maternal UPD(20)" EXACT []
synonym: "MBCS" EXACT []
synonym: "UPD(20)mat" EXACT []
xref: MIM:617352
xref: ORDO:96186
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:0111715
name: Schaaf-Yang syndrome
alt_id: MIM:615547
def: "A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27195816 "DO"]
synonym: "Chitayat-Hall syndrome" EXACT []
synonym: "distal arthrogryposis with hypopituitarism, mental retardation, and facial anomalies" EXACT []
synonym: "MAGEL2-RELATED CONDITION" EXACT []
synonym: "MAGEL2-related Prader-Willi-like syndrome" EXACT []
synonym: "MAGEL2-related PWLS" EXACT []
synonym: "Prader-Willi-like syndrome" EXACT []
synonym: "PWLS" EXACT []
synonym: "SHFYNG" EXACT []
xref: GARD:13316
xref: MESH:C535385
xref: ORDO:398069
is_a: DOID:0050646 ! distal arthrogryposis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11983 ! Prader-Willi syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:9406 ! hypopituitarism

[Term]
id: DOID:0111716
name: cryptophthalmia
def: "A physical disorder characterized by ocular dysplasia with eyelid malformation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30802441 "DO"]
synonym: "cryptophthalmos" EXACT []
xref: ICD9CM:743.06
xref: NCI:C124520
xref: ORDO:98562
is_a: DOID:0080015 ! physical disorder
is_a: DOID:530 ! eyelid disease
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:0111717
name: isolated cryptophthalmia
alt_id: MIM:123570
def: "A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16352480 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29688405 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31366340 "DO"]
synonym: "CRYPTOP" EXACT []
synonym: "Cryptophthalmos with Microphthalmia and Peters Anomaly" EXACT []
synonym: "FREM2-RELATED CONDITION" BROAD []
synonym: "isolated unilateral or bilateral cryptophthalmos" EXACT []
synonym: "simple ankyloblepharon" EXACT []
xref: MESH:C565138
xref: ORDO:91396
is_a: DOID:0111716 ! cryptophthalmia

[Term]
id: DOID:0111718
name: partial cryptophthalmia
def: "An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31366340 "DO"]
synonym: "incomplete cryptophthalmos" EXACT []
xref: ORDO:98950
is_a: DOID:0111717 ! isolated cryptophthalmia

[Term]
id: DOID:0111719
name: complete cryptophthalmia
def: "An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31366340 "DO"]
xref: ORDO:98949
is_a: DOID:0111717 ! isolated cryptophthalmia

[Term]
id: DOID:0111720
name: congenital symblepharon
def: "An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16352480 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31366340 "DO"]
xref: ORDO:98948
is_a: DOID:0111717 ! isolated cryptophthalmia

[Term]
id: DOID:0111721
name: amelogenesis imperfecta type 3
def: "An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30506946 "DO"]
synonym: "AI3" EXACT []
synonym: "amelogenesis imperfecta type III" EXACT []
synonym: "hypocalcified amelogenesis imperfecta" EXACT []
xref: ORDO:100032
is_a: DOID:2187 ! amelogenesis imperfecta
created_by: slaulede
creation_date: 2020-01-10T14:12:33Z

[Term]
id: DOID:0111722
name: amelogenesis imperfecta type 3C
def: "An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30506946 "DO"]
synonym: "AI3C" EXACT []
synonym: "amelogenesis imperfecta, hypocalcification type, autosomal recessive" EXACT []
synonym: "amelogenesis imperfecta type IIIC" EXACT []
xref: MIM:618386
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111721 ! amelogenesis imperfecta type 3
created_by: rgd
creation_date: 2016-10-18T00:00:00Z

[Term]
id: DOID:0111723
name: Jacobsen Syndrome
alt_id: MIM:147791
def: "A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4134631 "DO"]
synonym: "11q23 deletion disorder" EXACT []
synonym: "11q deletion disorder" EXACT []
synonym: "11q deletion syndrome" EXACT []
synonym: "11q terminal deletion disorder" EXACT []
synonym: "Chromosome 11q Deletion Syndrome" EXACT []
synonym: "Jacobsen Distal 11q Deletion Syndrome" EXACT []
synonym: "Jacobsen thrombocytopenia" EXACT []
synonym: "JBS" EXACT []
synonym: "Paris Trousseau syndrome" EXACT []
synonym: "Paris Trousseau thrombocytopenia" EXACT []
synonym: "partial 11q monosomy syndrome" EXACT []
xref: GARD:307
xref: MESH:D054868
xref: NCI:C75457
xref: ORDO:2308
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:0111724
name: geleophysic dysplasia
def: "A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. (DO)" [https://ghr.nlm.nih.gov/condition/geleophysic-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301776 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31516831 "DO"]
synonym: "geleophysic dysplasias" EXACT []
synonym: "GPHYSD" EXACT []
xref: GARD:2449
xref: MIM:PS231050
xref: ORDO:2623
is_a: DOID:0111243 ! acromicric dysplasia
is_a: DOID:9001487 ! Facies
is_a: DOID:9003936 ! Cardiomegaly
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0111725
name: geleophysic dysplasia 1
alt_id: OMIA:001509
def: "A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21683322 "DO"]
synonym: "ADAMTSL2-RELATED CONDITION" EXACT []
synonym: "GPHYSD1" EXACT []
synonym: "Musladin-Lueke syndrome" EXACT []
xref: MIM:231050
xref: NCI:C202607
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111724 ! geleophysic dysplasia

[Term]
id: DOID:0111726
name: geleophysic dysplasia 2
def: "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21683322 "DO"]
synonym: "GPHYSD2" EXACT []
xref: MIM:614185
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111724 ! geleophysic dysplasia

[Term]
id: DOID:0111727
name: geleophysic dysplasia 3
def: "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the LTBP3 gene on chromosome 11q13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27068007 "DO"]
synonym: "GPHYSD3" EXACT []
xref: MIM:617809
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111724 ! geleophysic dysplasia

[Term]
id: DOID:0111728
name: familial episodic pain syndrome
def: "A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24813307 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28298626 "DO"]
synonym: "FEPS" EXACT []
xref: GARD:12684
xref: MIM:PS615040
xref: ORDO:391384
is_a: DOID:870 ! neuropathy
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:0111729
name: familial episodic pain syndrome 1
def: "A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20547126 "DO"]
synonym: "FEPS1" EXACT []
xref: MIM:615040
xref: ORDO:391389
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111728 ! familial episodic pain syndrome

[Term]
id: DOID:0111730
name: familial episodic pain syndrome 2
def: "A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23115331 "DO"]
synonym: "FEPS2" EXACT []
xref: MIM:615551
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111728 ! familial episodic pain syndrome

[Term]
id: DOID:0111731
name: familial episodic pain syndrome 3
def: "A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24207120 "DO"]
synonym: "FEPS3" EXACT []
xref: MIM:615552
xref: NCI:C125390
xref: ORDO:391392
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111728 ! familial episodic pain syndrome

[Term]
id: DOID:0111732
name: Eiken syndrome
alt_id: MIM:600002
def: "A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6734674 "DO"]
synonym: "bone modeling defect of hands and feet" EXACT []
synonym: "Eiken skeletal dysplasia" EXACT []
xref: MESH:C564010
xref: ORDO:79106
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0111733
name: pancreatic hypoplasia-diabetes-congenital heart disease syndrome
alt_id: DOID:9004418
alt_id: MESH:C536714
alt_id: MIM:600001
def: "A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22158542 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8071961 "DO"]
synonym: "Congenital Heart Defects, and Other Congenital Anomalies" EXACT []
synonym: "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease" EXACT []
synonym: "HDCA" EXACT []
synonym: "PACHD" EXACT []
synonym: "pancreatic agenesis and congenital heart defects" EXACT []
synonym: "pancreatic hypoplasia-diabetes-heart disease" EXACT []
synonym: "Yorifuji-Okuno syndrome" EXACT []
xref: MESH:C564011
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050877 ! pancreatic agenesis
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9351 ! diabetes mellitus
created_by: rgd
creation_date: 2017-12-07T00:00:00Z

[Term]
id: DOID:0111734
name: aminoglycoside-induced deafness
alt_id: MIM:580000
def: "A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16152638 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7689389 "DO"]
synonym: "Deafness, mitochondrial, modifier of" RELATED []
synonym: "streptomycin-induced deafness" EXACT []
synonym: "streptomycin ototoxicity" EXACT []
synonym: "TRMU-RELATED CONDITION" BROAD []
xref: MESH:C564013
is_a: DOID:0070310 ! drug-induced hearing loss
is_a: DOID:10003 ! sensorineural hearing loss
created_by: rgd
creation_date: 2018-01-17T18:02:10Z

[Term]
id: DOID:0111735
name: X-linked deafness 4
alt_id: MIM:300066
def: "An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8872482 "DO"]
synonym: "Deafness, Nonsyndromic Sensorineural Progressive 6" EXACT []
synonym: "DFN6" EXACT []
synonym: "DFNX4" EXACT []
synonym: "progressive X-linked deafness 6" EXACT []
xref: MESH:C564723
xref: NCI:C180844
is_a: DOID:0050566 ! X-linked nonsyndromic deafness
created_by: mtutaj
creation_date: 2019-06-25T13:28:26Z

[Term]
id: DOID:0111736
name: X-linked deafness 3
alt_id: MIM:300030
def: "An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18005182 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7942846 "DO"]
synonym: "DFN4" EXACT []
synonym: "DFNX3" EXACT []
synonym: "X-linked deafness 4, congenital sensorineural" EXACT []
xref: MESH:C564727
is_a: DOID:0050566 ! X-linked nonsyndromic deafness

[Term]
id: DOID:0111737
name: X-linked deafness 2
alt_id: DOID:0080783
alt_id: MIM:304400
def: "An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20412083 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7839145 "DO"]
synonym: "Deafness 3, conductive, with stapes fixation" EXACT []
synonym: "Deafness, Conductive, with Stapes Fixation" EXACT []
synonym: "DFN3" EXACT []
synonym: "DFNX2" EXACT []
synonym: "mixed deafness with perilymphatic gusher" EXACT []
synonym: "Nance deafness" EXACT []
synonym: "perilymphatic gusher-deafness syndrome" EXACT []
synonym: "profound sensorineural deafness with or without a conductive component" EXACT []
synonym: "profound sensorineural deafness with or without a conductive component, associated with a unique developmental abnormality of the ear" EXACT []
synonym: "progressive hearing loss stapes fixation" EXACT []
synonym: "X-linked deafness type 2" EXACT []
synonym: "X-linked mixed conductive and neurosensory deafness" EXACT []
synonym: "X-linked mixed conductive and neurosensory hearing loss" EXACT []
synonym: "X-linked mixed conductive and sensorineural deafness" EXACT []
synonym: "X-linked mixed conductive and sensorineural hearing loss" EXACT []
synonym: "X-linked sensorineural deafness" EXACT []
synonym: "X-linked stapes gusher syndrome" EXACT []
xref: MESH:C536424
xref: ORDO:383
is_a: DOID:0050566 ! X-linked nonsyndromic deafness
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:0111738
name: X-linked deafness 7
def: "An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28096187 "DO"]
synonym: "DFNX7" EXACT []
synonym: "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" EXACT []
xref: MIM:301018
xref: MONDO:0044702
xref: ORDO:500188
is_a: DOID:0050566 ! X-linked nonsyndromic deafness

[Term]
id: DOID:0111739
name: X-linked deafness 1
alt_id: MIM:304500
def: "An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20021999 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8968763 "DO"]
synonym: "DFN2" EXACT []
synonym: "DFNX1" EXACT []
synonym: "X-linked deafness 2, sensorineural congenital" EXACT []
xref: MESH:C564433
is_a: DOID:0050566 ! X-linked nonsyndromic deafness

[Term]
id: DOID:0111740
name: X-linked deafness 6
def: "An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23714752 "DO"]
synonym: "COL4A6-RELATED CONDITION" EXACT []
synonym: "DFNX6" EXACT []
xref: MIM:300914
is_a: DOID:0050566 ! X-linked nonsyndromic deafness
created_by: slaulede
creation_date: 2018-09-11T14:51:18Z

[Term]
id: DOID:0111741
name: X-linked deafness 5
alt_id: MIM:300614
def: "A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16816020 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25986071 "DO"]
synonym: "AUNX1" EXACT []
synonym: "DFNX5" EXACT []
synonym: "X-linked auditory neuropathy 1 with peripheral sensory neuropathy" EXACT []
synonym: "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" EXACT []
synonym: "X-linked deafness 5 with peripheral neuropathy" EXACT []
synonym: "X-linked HSAN with deafness" EXACT []
xref: MESH:C564472
xref: NCI:C180843
xref: ORDO:139583
is_a: DOID:0050566 ! X-linked nonsyndromic deafness
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:12657 ! vestibulocochlear nerve disease
is_a: DOID:9001890 ! Auditory Neuropathy

[Term]
id: DOID:0111742
name: cerebellar ataxia type 42
def: "An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26456284 "DO"]
synonym: "CACNA1G-RELATED CONDITION" BROAD []
synonym: "CACNA1G-RELATED DISORDERS" EXACT []
synonym: "SCA42" EXACT []
synonym: "spinocerebellar ataxia 42" EXACT []
synonym: "SPINOCEREBELLAR ATAXIA TYPE 42" EXACT []
xref: EFO:0009059
xref: MIM:616795
xref: NCI:C171269
xref: ORDO:458803
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0111743
name: cerebellar ataxia type 47
def: "An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29474920 "DO"]
synonym: "PUM1-RELATED CONDITION" BROAD []
synonym: "SCA47" EXACT []
synonym: "spinocerebellar ataxia 47" EXACT []
synonym: "SPINOCEREBELLAR ATAXIA 47, EARLY-ONSET" NARROW []
synonym: "spinocerebellar ataxia type 47" EXACT []
xref: MIM:617931
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0111744
name: cerebellar ataxia type 41
def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25477146 "DO"]
synonym: "SCA41" EXACT []
synonym: "spinocerebellar ataxia 41" EXACT []
synonym: "SPINOCEREBELLAR ATAXIA TYPE 41" EXACT []
xref: EFO:0009058
xref: MIM:616410
xref: ORDO:458798
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0111745
name: cerebellar ataxia type 43
def: "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27583304 "DO"]
synonym: "MME-RELATED CONDITION" BROAD []
synonym: "SCA43" EXACT []
synonym: "spinocerebellar ataxia 43" EXACT []
xref: EFO:0009060
xref: MIM:617018
xref: MONDO:0014867
xref: ORDO:497764
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0111746
name: cerebellar ataxia type 48
def: "An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30381368 "DO"]
synonym: "SCA48" EXACT []
synonym: "spinocerebellar ataxia 48" EXACT []
xref: EFO:0010251
xref: MIM:618093
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
creation_date: 2011-07-12T00:00:00Z

[Term]
id: DOID:0111747
name: cerebellar ataxia type 9
def: "An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31632837 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9159738 "DO"]
synonym: "SCA9" EXACT []
synonym: "SPINOCEREBELLAR ATAXIA 9" EXACT []
xref: GARD:10481
xref: MIM:612876
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:0111748
name: mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1
def: "A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1550128 "DO"]
synonym: "MC5DM1" EXACT []
xref: MIM:500015
xref: NCI:C186788
is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency

[Term]
id: DOID:0111749
name: mitochondrial complex V (ATP synthase) deficiency nuclear type 6
def: "A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29917077 "DO"]
synonym: "MC5DN6" EXACT []
synonym: "mitochondrial complex V deficiency, nuclear type 6" EXACT []
xref: EFO:0010656
xref: MIM:618683
is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency

[Term]
id: DOID:0111750
name: adult-onset ataxia and polyneuropathy
alt_id: MIM:500010
def: "A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16049925 "DO"]
xref: MESH:C564020
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9004866 ! Ataxia
created_by: mtutaj
creation_date: 2019-03-26T08:31:01Z

[Term]
id: DOID:0111751
name: mitochondrial nonsyndromic sensorineural deafness
def: "A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10577941 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16650816 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17341440 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7689389 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8019558 "DO"]
synonym: "mitochondrially inherited nonsyndromic sensorineural deafness" EXACT []
xref: MIM:500008
xref: NCI:C148321
is_a: DOID:9007966 ! Nonsyndromic Sensorineural Hearing Loss

[Term]
id: DOID:0111752
name: autosomal-mitochondrial sensorineural deafness
alt_id: MIM:221745
def: "A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1613771 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8817331 "DO"]
synonym: "Sensorineural Deafness, Autosomal-Mitochondrial Type" EXACT []
xref: MESH:C565637
is_a: DOID:0080578 ! digenic disease
is_a: DOID:10003 ! sensorineural hearing loss

[Term]
id: DOID:0111753
name: infantile hypertrophic cardiomyopathy
def: "A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19188198 "DO"]
xref: MIM:500006
is_a: DOID:11984 ! hypertrophic cardiomyopathy

[Term]
id: DOID:0111754
name: Leber plus disease
def: "A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27696015 "DO"]
synonym: "LHON plus disease" EXACT []
xref: ORDO:99718
is_a: DOID:225 ! syndrome
is_a: DOID:705 ! Leber hereditary optic neuropathy

[Term]
id: DOID:0111755
name: Leber hereditary optic neuropathy and dystonia
alt_id: MIM:500001
def: "A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17562939 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19458970 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3711913 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3736869 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8644732 "DO"]
synonym: "familial dystonia with visual failure and striatal lucencies" EXACT []
synonym: "LDYT" EXACT []
synonym: "Leber Hereditary Optic Neuropathy With Dystonia" EXACT []
synonym: "Leber optic atrophy with dystonia" EXACT []
synonym: "Marsden Syndrome" EXACT []
xref: MESH:C536024
is_a: DOID:0111754 ! Leber plus disease
is_a: DOID:543 ! dystonia

[Term]
id: DOID:0111756
name: Leber hereditary optic neuropathy with demyelinating disease of CNS
def: "A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14213470 "DO"]
synonym: "optic atrophy with demyelinating disease of CNS" EXACT []
xref: MIM:165200
is_a: DOID:0111754 ! Leber plus disease
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases

[Term]
id: DOID:0111757
name: Y-linked deafness
def: "A nonsyndromic deafness characterized by a Y-lnked inheritance mode. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23352258 "DO"]
synonym: "DFNY" EXACT []
xref: MIM:PS400043
is_a: DOID:0050563 ! nonsyndromic deafness
is_a: DOID:0050738 ! Y-linked monogenic disease
created_by: rgd
creation_date: 2017-03-01T00:00:00Z

[Term]
id: DOID:0111758
name: Y-linked deafness 2
def: "A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30341416 "DO"]
synonym: "DFNY2" EXACT []
xref: MIM:400047
is_a: DOID:0111757 ! Y-linked deafness

[Term]
id: DOID:0111759
name: Y-linked deafness 1
def: "A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18720061 "DO"]
synonym: "DFNY1" EXACT []
xref: MIM:400043
is_a: DOID:0111757 ! Y-linked deafness

[Term]
id: DOID:0111760
name: 46,XX sex reversal
alt_id: OMIA:000901
def: "A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. (DO)" [https://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301589 "DO"]
synonym: "46, XX gonadal sex reversal" EXACT []
synonym: "46, XX Testicular Disorder of Sex Development" EXACT []
synonym: "46, XX Testicular Disorders of Sex Development" EXACT []
synonym: "46, XX Testicular DSD" EXACT []
synonym: "De la Chapelle syndrome" EXACT []
synonym: "SRXX" EXACT []
synonym: "XX Male Syndrome" EXACT []
synonym: "XX Male Syndromes" EXACT []
synonym: "XX Sex Reversal" EXACT []
synonym: "XX Sex Reversals" EXACT []
synonym: "XXSR" EXACT []
synonym: "XX testicular DSD" EXACT []
synonym: "XX testicular DSD (disorder of sexual development)" EXACT []
xref: GARD:399
xref: MESH:D058531
xref: ORDO:393
is_a: DOID:14447 ! gonadal dysgenesis
is_a: DOID:9005851 ! 46, XX Disorders of Sex Development
created_by: rgd
creation_date: 2015-11-11T00:00:00Z

[Term]
id: DOID:0111761
name: 46,XX sex reversal 1
def: "A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15378545 "DO"]
synonym: "46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE" EXACT []
synonym: "46,XX SEX REVERSAL, SRY-POSITIVE" EXACT []
synonym: "46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE" RELATED []
synonym: "OVOTESTICULAR DISORDER OF SEX DEVELOPMENT" RELATED []
synonym: "OVOTESTICULAR DSD" RELATED []
synonym: "SRXX1" EXACT []
synonym: "SRY-positive XX male" EXACT []
xref: MIM:400045
xref: NCI:C179867
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0111760 ! 46,XX sex reversal
is_a: DOID:14450 ! 46 XX gonadal dysgenesis

[Term]
id: DOID:0111762
name: 46,XX sex reversal 3
def: "A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21183788 "DO"]
synonym: "46,XX SEX REVERSAL, SOX3-CHROMOSOME Xq26 DELETION SYNDROME" NARROW []
synonym: "CHROMOSOME Xq26 DUPLICATION SYNDROME" EXACT []
synonym: "SRXX3" EXACT []
xref: MIM:300833
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0111760 ! 46,XX sex reversal
is_a: DOID:14450 ! 46 XX gonadal dysgenesis

[Term]
id: DOID:0111763
name: 46,XX sex reversal 2
def: "A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21208124 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8262517 "DO"]
synonym: "chromosome 17q24 dupication syndrome" EXACT []
synonym: "chromosome 17q24 duplication syndrome" EXACT []
synonym: "SRXX2" EXACT []
xref: MIM:278850
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111760 ! 46,XX sex reversal
is_a: DOID:14450 ! 46 XX gonadal dysgenesis
created_by: mtutaj
creation_date: 2019-03-21T14:46:37Z

[Term]
id: DOID:0111764
name: 46,XX sex reversal 4
def: "A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27378692 "DO"]
synonym: "SRXX4" EXACT []
xref: MIM:617480
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111760 ! 46,XX sex reversal

[Term]
id: DOID:0111765
name: X-linked cardiac valvular dysplasia
def: "A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/17190868 "DO"]
synonym: "congenital valvular heart disease" EXACT []
synonym: "CVD1" EXACT []
synonym: "CVDPX" EXACT []
synonym: "Dystrophie valvulaire associee a FLNA" EXACT []
synonym: "EDS 5" EXACT []
synonym: "EDS5" EXACT []
synonym: "Ehlers-Danlos syndrome type 5" EXACT []
synonym: "Ehlers-Danlos syndrome, type V" EXACT []
synonym: "filamin A-related X-linked myxomatous valvular dysplasia" EXACT []
synonym: "FLNA-related valvular dystrophy" EXACT []
synonym: "FLNA-related X-linked myxomatous valvular dysplasia" EXACT []
synonym: "X-linked myxomatous valvular dystrophy" EXACT []
synonym: "XMVD" EXACT []
xref: MESH:C535576
xref: MESH:C536197
xref: MIM:314400
xref: MONDO:0010753
xref: NCI:C141423
xref: NCI:C173469
xref: ORDO:555877
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9003253 ! Myxoma
is_a: DOID:988 ! mitral valve prolapse

[Term]
id: DOID:0111766
name: X-linked VACTERL association
alt_id: MIM:276950
alt_id: MIM:314390
def: "A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15502827 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20452998 "DO"]
synonym: "VACTERL/VATER Association with Hydrocephalus" EXACT []
synonym: "VACTERL association with hydrocephaly" EXACT []
synonym: "VACTERL association with hydrocephaly, X-linked" EXACT []
synonym: "VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS" EXACT []
synonym: "VACTERL-H" EXACT []
synonym: "VACTERL-H  VATER ASSOCIATION WITH HYDROCEPHALUS" NARROW []
synonym: "VACTERL-H, X-Linked" EXACT []
synonym: "VACTERL hydrocephaly" EXACT []
synonym: "VACTERLX" EXACT []
synonym: "VATER/VACTERL association with CNS malformations" RELATED []
synonym: "VATER Association with Hydrocephalus" EXACT []
synonym: "VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY" NARROW []
synonym: "X-linked VACTERL association with hydrocephalus" EXACT []
synonym: "X-linked VACTERL-H syndrome" EXACT []
xref: GARD:8498
xref: MESH:C564751
xref: MESH:C564752
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:14679 ! VACTERL association
is_a: DOID:9003816 ! Macrocephaly

[Term]
id: DOID:0111767
name: X-linked thrombocytopenia with beta-thalassemia
alt_id: MIM:314050
def: "A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18930124 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22102271 "DO"]
synonym: "beta-thalassemia-X-linked thrombocytopenia syndrome" EXACT []
synonym: "Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis" EXACT []
synonym: "XLTT" EXACT []
xref: MESH:C564050
xref: NCI:C134941
xref: ORDO:231393
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:12241 ! beta thalassemia
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:9003603 ! Hemolysis
created_by: mtutaj
creation_date: 2019-03-26T14:00:27Z

[Term]
id: DOID:0111768
name: X-linked properdin deficiency
alt_id: MESH:C564075
alt_id: MESH:C564076
alt_id: MIM:312060
def: "A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8530058 "DO"]
synonym: "CFPD" EXACT []
synonym: "CFP-RELATED CONDITION" EXACT []
synonym: "complement factor properdin deficiency" EXACT []
synonym: "PFD" EXACT []
synonym: "properdin deficiency, type 1" EXACT []
synonym: "Properdin Deficiency, Type I" EXACT []
synonym: "Properdin Deficiency, Type II" RELATED []
synonym: "properdin deficiency, type III" RELATED []
synonym: "properdin P factor deficiency" EXACT []
xref: GARD:9913
xref: MESH:C537241
xref: ORDO:2966
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:0111769
name: 46,XY sex reversal 6
def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21129722 "DO"]
synonym: "46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED" EXACT []
synonym: "46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED" EXACT []
synonym: "46,XY sex reversal, type 6" EXACT []
synonym: "SRXY6" EXACT []
xref: MIM:613762
xref: MONDO:0013410
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14448 ! 46,XY sex reversal
created_by: mtutaj
creation_date: 2019-03-26T12:51:49Z

[Term]
id: DOID:0111770
name: 46,XY sex reversal 9
def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24549039 "DO"]
synonym: "46,XY sex reversal, ZFPM2-related" EXACT []
synonym: "SRXY9" EXACT []
xref: MIM:616067
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14448 ! 46,XY sex reversal
created_by: mtutaj
creation_date: 2019-11-20T11:07:05Z

[Term]
id: DOID:0111771
name: 46,XY sex reversal 4
def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10780781 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19417767 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO"]
synonym: "chromosome 9p24.3 deletion syndrome" EXACT []
synonym: "complete or partial 46,XY gonadal dysgenesis with 9p24.3 deletion" EXACT []
synonym: "SRXY4" EXACT []
xref: MESH:C567887
xref: MIM:154230
xref: MONDO:0007938
xref: NCI:C132270
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:14448 ! 46,XY sex reversal

[Term]
id: DOID:0111772
name: 46,XY sex reversal 3
def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10369247 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO"]
synonym: "46,XY Gonadal Dysgenesis, Complete or Partial, With or Without Adrenal Failure" EXACT []
synonym: "46,XY Sex Reversal, Partial or Complete, NR5A1-Related" EXACT []
synonym: "DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED" EXACT []
synonym: "SRXY3" EXACT []
synonym: "XY sex reversal, with or without adrenal failure" EXACT []
xref: MIM:612965
xref: MONDO:0013066
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14448 ! 46,XY sex reversal

[Term]
id: DOID:0111773
name: 46,XY sex reversal 8
alt_id: MIM:614279
def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21802064 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4352099 "DO"]
synonym: "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase" EXACT []
synonym: "SRXY8" EXACT []
synonym: "TDD" EXACT []
xref: MESH:C564109
xref: ORDO:443087
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14448 ! 46,XY sex reversal

[Term]
id: DOID:0111774
name: 46,XY sex reversal 7
alt_id: MIM:233420
def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15356051 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO"]
synonym: "DHH-related 46,XY gonadal dysgenesis, complete" EXACT []
synonym: "DHH-related 46,XY gonadal dysgenesis, complete or partial" EXACT []
synonym: "DHH-related 46,XY sex reversal, partial or complete" EXACT []
synonym: "GDXYM" EXACT []
synonym: "SRXY7" EXACT []
synonym: "XY gonadal dysgenesis, male limited" EXACT []
xref: MESH:C565537
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14448 ! 46,XY sex reversal
created_by: mtutaj
creation_date: 2019-03-21T10:59:23Z

[Term]
id: DOID:0111775
name: 46,XY sex reversal 10
def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22051515 "DO"]
synonym: "chromosome 17q24 deletion syndrome" EXACT []
synonym: "SRXY10" EXACT []
xref: MIM:616425
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:14448 ! 46,XY sex reversal

[Term]
id: DOID:0111776
name: 46,XY sex reversal 5
alt_id: MIM:613080
def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19361780 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO"]
synonym: "46,Xy Gonadal Dysgenesis, Complete, Cbx2-Related" EXACT []
synonym: "46,XY SEX REVERSAL, CBX2-RELATED" EXACT []
synonym: "Disorder Of Sex Development, 46,Xy, Cbx2-Related" EXACT []
synonym: "SRXY5" EXACT []
synonym: "XY sex reversal, CBX2-related" EXACT []
xref: MESH:C567766
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14448 ! 46,XY sex reversal

[Term]
id: DOID:0111777
name: 46,XY sex reversal 2
def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/567843 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7951319 "DO"]
synonym: "46XY sex reversal 2, dosage-sensitive" EXACT []
synonym: "46,XY sex reversal, DAX1-related" EXACT []
synonym: "dosage-sensitive sex reversal" EXACT []
synonym: "DSS" EXACT []
synonym: "SRXY2" EXACT []
xref: GARD:9159
xref: MESH:C535601
xref: MIM:300018
xref: MONDO:0010226
xref: NCI:C202543
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:14448 ! 46,XY sex reversal

[Term]
id: DOID:0111778
name: 46,XY sex reversal 1
def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2247151 "DO"]
synonym: "46,XY GONADAL DYSGENESIS, COMPLETE, SRY-46,XY TRUE HERMAPHRODITISM, SRY-RELATED" NARROW []
synonym: "46,XY SEX REVERSAL, SRY-RELATED" EXACT []
synonym: "SEX-REVERSING LOCUS ON X" NARROW []
synonym: "SRVX" NARROW []
synonym: "SRXY1" EXACT []
synonym: "TDFX" NARROW []
synonym: "X-chromosomal testis-determining factor" NARROW []
xref: MIM:400044
xref: NCI:C128188
is_a: DOID:0050738 ! Y-linked monogenic disease
is_a: DOID:14448 ! 46,XY sex reversal
is_a: DOID:9006982 ! Ovotesticular Disorders of Sex Development

[Term]
id: DOID:0111779
name: X-linked panhypopituitarism
alt_id: MIM:312000
def: "A panhypopituitarism that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15800844 "DO"]
synonym: "PHPX" EXACT []
synonym: "pituitary dwarfism IV" EXACT []
xref: GARD:6737
xref: MESH:C538613
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9410 ! panhypopituitarism

[Term]
id: DOID:0111780
name: TARP syndrome
alt_id: MIM:311900
def: "A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20451169 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30450804 "DO"]
synonym: "Pierre Robin sequence-congenital heart defect-talipes syndrome" EXACT []
synonym: "Pierre Robin syndrome-congenital heart defect-talipes syndrome" EXACT []
synonym: "Pierre Robin syndrome with congenital heart malformation and clubfoot" EXACT []
synonym: "talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left superior vena cava" EXACT []
synonym: "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome" EXACT []
synonym: "TARPS" EXACT []
xref: GARD:10089
xref: MESH:C536942
xref: ORDO:2886
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:11836 ! clubfoot
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome

[Term]
id: DOID:0111781
name: Waisman syndrome
def: "A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25434005 "DO"]
synonym: "basal ganglia disorder with mental retardation" EXACT []
synonym: "Basal Ganglion Disorder With Mental Retardation" EXACT []
synonym: "BGMR" EXACT []
synonym: "early-onset parkinsonism-intellectual disability syndrome" EXACT []
synonym: "early onset parkinsonism with mental retardation" EXACT []
synonym: "Laxova Brown Hogan syndrome" EXACT []
synonym: "Laxova-Opitz syndrome" EXACT []
synonym: "WSMN" EXACT []
synonym: "WSN" EXACT []
synonym: "X-linked recessive basal ganglia disorder with mental retardation" EXACT []
xref: GARD:3203
xref: MESH:C537179
xref: MIM:311510
xref: MONDO:0010709
xref: NCI:C184991
xref: ORDO:2379
is_a: DOID:0060894 ! early-onset Parkinson's disease
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:679 ! basal ganglia disease

[Term]
id: DOID:0111782
name: otopalatodigital syndrome spectrum disorder
def: "A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10706363 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16926860 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301567 "DO"]
synonym: "fronto-otopalatodigital osteodysplasia" EXACT []
synonym: "OPD spectrum disorder" EXACT []
synonym: "OPSD" EXACT []
synonym: "otopalatodigital spectrum disorder" EXACT []
xref: MESH:C567577
xref: ORDO:364541
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0111783
name: otopalatodigital syndrome type 1
alt_id: MIM:311300
def: "An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12612583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301567 "DO"]
synonym: "FRONTOOTOPALATODIGITAL OSTEODYSPLASIA" NARROW []
synonym: "OPD1" EXACT []
synonym: "OPD I SYNDROME" EXACT []
synonym: "OPD syndrome 1" EXACT []
synonym: "Opd Syndrome, Type 1" EXACT []
synonym: "OTOPALATODIGITAL SPECTRUM DISORDER" BROAD []
synonym: "oto-palato-digital syndrome, type 1" EXACT []
synonym: "oto-palato-digital syndrome, type I" EXACT []
synonym: "otopalatodigital syndrome type I" EXACT []
synonym: "Taybi syndrome" EXACT []
xref: GARD:5121
xref: MESH:C536065
xref: NCI:C118845
xref: ORDO:90650
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder

[Term]
id: DOID:0111784
name: otopalatodigital syndrome type 2
alt_id: MIM:304120
def: "An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12612583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15654694 "DO"]
synonym: "Andre syndrome" EXACT []
synonym: "Cranioorodigital Syndrome" EXACT []
synonym: "cranio-oro-digital syndrome" EXACT []
synonym: "Faciopalatoosseous syndrome" EXACT []
synonym: "FPO" EXACT []
synonym: "OPD2" EXACT []
synonym: "OPD II Syndrome" EXACT []
synonym: "OPD Syndrome 2" EXACT []
synonym: "OPD Syndrome, Type 2" EXACT []
synonym: "Oto-Palato-Digital Syndrome, Type 2" EXACT []
synonym: "otopalatodigital syndrome type II" EXACT []
xref: GARD:5802
xref: MESH:C538089
xref: ORDO:90652
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder

[Term]
id: DOID:0111785
name: frontometaphyseal dysplasia
def: "An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12612583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15523633 "DO"]
synonym: "FMD" EXACT []
xref: GARD:826
xref: MESH:C538064
xref: MIM:PS305620
is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder

[Term]
id: DOID:0111786
name: frontometaphyseal dysplasia 1
def: "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12612583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15523633 "DO"]
synonym: "FMD1" EXACT []
xref: MIM:305620
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0111785 ! frontometaphyseal dysplasia

[Term]
id: DOID:0111787
name: frontometaphyseal dysplasia 2
def: "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27426733 "DO"]
synonym: "FMD2" EXACT []
xref: MIM:617137
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111785 ! frontometaphyseal dysplasia
created_by: slaulede
creation_date: 2018-11-09T17:18:38Z

[Term]
id: DOID:0111788
name: Melnick-Needles syndrome
def: "An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/12612583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16538226 "DO"]
synonym: "Melnick Needles Osteodysplasty" EXACT []
synonym: "MNS" EXACT []
synonym: "Osteodysplasty of Melnick and Needles" EXACT []
xref: GARD:7011
xref: MIM:309350
xref: ORDO:1826
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder

[Term]
id: DOID:0111789
name: Frank-Ter Haar syndrome
def: "An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15523657 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20137777 "DO"]
synonym: "BORRONE DERMATOCARDIOSKELETAL SYNDROME" EXACT []
synonym: "Borrone Di Rocco Crovato Syndrome" EXACT []
synonym: "FTHS" EXACT []
synonym: "megalocornea, multiple skeletal anomalies, and developmental delay" EXACT []
synonym: "Melnick-Needles syndrome, autosomal recessive" EXACT []
synonym: "Ter Haar syndrome" EXACT []
xref: GARD:5138
xref: MESH:C537274
xref: MIM:249420
xref: MONDO:0009579
xref: ORDO:137834
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:37 ! skin disease
is_a: DOID:381 ! arthropathy
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:988 ! mitral valve prolapse

[Term]
id: DOID:0111790
name: congenital nystagmus 1
alt_id: MIM:310700
def: "A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17013395 "DO"]
synonym: "congenital motor nystagmus" EXACT []
synonym: "FRMD7-related infantile nystagmus" EXACT []
synonym: "IIN" NARROW []
synonym: "NYS1" EXACT []
synonym: "Nystagmus 1, Congenital, X- Linked" EXACT []
synonym: "Nystagmus 1, Infantile, X-Linked" EXACT []
synonym: "Nystagmus, congenital motor, 1" EXACT []
synonym: "NYSTAGMUS, INFANTILE IDIOPATHIC" NARROW []
synonym: "NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED" NARROW []
synonym: "XIPAN" NARROW []
synonym: "X-Linked Congenital Nystagmus" EXACT []
synonym: "X-linked idiopathic infantile nystagmus" EXACT []
synonym: "X-linked infantile nystagmus" EXACT []
synonym: "XLPAN" NARROW []
xref: GARD:2969
xref: MESH:C537853
xref: MESH:C580539
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:9649 ! congenital nystagmus
created_by: slaulede
creation_date: 2019-06-28T10:46:49Z

[Term]
id: DOID:0111791
name: congenital nystagmus 7
def: "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22065086 "DO"]
synonym: "congenital nystagmus 7, autosomal dominant" EXACT []
synonym: "NYS7" EXACT []
xref: MIM:614826
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:0111792
name: congenital nystagmus 2
alt_id: MIM:164100
def: "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8661013 "DO"]
synonym: "congenital motor nystagmus 2" EXACT []
synonym: "NYS2" EXACT []
synonym: "Nystagmus 2, Congenital, Autosomal Dominant" EXACT []
xref: GARD:9599
xref: MESH:C537854
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9649 ! congenital nystagmus
created_by: mtutaj
creation_date: 2020-01-21T14:21:39Z

[Term]
id: DOID:0111793
name: congenital nystagmus 3
alt_id: MIM:608345
def: "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9806847 "DO"]
synonym: "congenital nystagmus 3, autosomal dominant" EXACT []
synonym: "NYS3" EXACT []
xref: GARD:9600
xref: MESH:C537855
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:0111795
name: congenital nystagmus 6
def: "A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17516023 "DO"]
synonym: "congenital nystagmus 6, X-linked" EXACT []
synonym: "GPR143-RELATED CONDITION" BROAD []
synonym: "NYS6" EXACT []
xref: MIM:300814
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:0111796
name: congenital nystagmus 5
def: "A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10090899 "DO"]
synonym: "congenital nystagmus 5, X-linked" EXACT []
synonym: "NYS5" EXACT []
xref: MIM:300589
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:0111797
name: autosomal recessive congenital nystagmus
alt_id: MIM:257400
def: "A congenital nystagmus characterized by autosomal recessive inheritance. (DO)" [https://europepmc.org/article/med/305814 "DO"]
synonym: "congenital motor nystagmus, autosomal recessive" EXACT []
xref: GARD:9609
xref: MESH:C564938
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:0111798
name: X-linked nephrolithiasis type I
alt_id: MIM:310468
def: "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15558518 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8559248 "DO"]
synonym: "Nephrolithiasis 1" EXACT []
synonym: "NEPHROLITHIASIS, X-LINKED RECESSIVE" EXACT []
synonym: "Nephrolithiasis, X-Linked Recessive, Type 1" EXACT []
synonym: "NPHL1" EXACT []
synonym: "Urolithiasis, X-Linked Recessive, Type 1" EXACT []
synonym: "X-linked nephrolithiasis with renal failure" EXACT []
synonym: "X-linked recessive nephrolithiasis with renal failure" EXACT []
synonym: "XRN" EXACT []
xref: MESH:C562901
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0080652 ! calcium oxalate nephrolithiasis
is_a: DOID:1074 ! kidney failure
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:0111799
name: syndromic microphthalmia 1
alt_id: DOID:0111810
alt_id: MIM:309800
def: "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/30842225/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/13300470 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24431331 "DO"]
comment: type 4 obsoleted by omim, merged into type 1[LS]
synonym: "ANOP1" EXACT []
synonym: "ANOPHTHALMIA - MICROPHTHALMIA" EXACT []
synonym: "Lenz dysmorphogenic syndrome" EXACT []
synonym: "Lenz dysplasia" EXACT []
synonym: "Lenz microphthalmia" EXACT []
synonym: "Lenz microphthalmia syndrome" EXACT []
synonym: "Lenz syndrome" EXACT []
synonym: "Lenz type microphthalmia" EXACT []
synonym: "MAA" EXACT []
synonym: "MCOPS1" EXACT []
synonym: "MCOPS4" NARROW []
synonym: "microphthalmia-ankyloblepharon-intellectual disability syndrome" EXACT []
synonym: "microphthalmia or anophthalmos with associated anomalies" EXACT []
synonym: "microphthalmia with ankyloblepharon and mental retardation" EXACT []
synonym: "syndromic microphthalmia 4" NARROW []
xref: GARD:5066
xref: GARD:87
xref: MESH:C537464
xref: ORDO:568
xref: ORDO:85275
is_a: DOID:0080636 ! syndromic microphthalmia
is_a: DOID:9002049 ! Anophthalmia
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:0111800
name: syndromic microphthalmia 12
def: "A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17506106 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24075189 "DO"]
synonym: "MCOPS12" EXACT []
synonym: "Microphthalmia with or without Pulmonary Hypoplasia, Diaphragmatic Hernia, and/or Cardiac Defects" EXACT []
xref: GARD:13235
xref: MIM:615524
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:0080636 ! syndromic microphthalmia
created_by: slaulede
creation_date: 2019-06-21T11:40:53Z

[Term]
id: DOID:0111801
name: syndromic microphthalmia 3
alt_id: MIM:206900
def: "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12612584 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20803647 "DO"]
synonym: "AEG syndrome" EXACT []
synonym: "anophthalmia/microphthalmia-esophageal atresia syndrome" EXACT []
synonym: "Anophthalmia, Clinical, With Associated Anomalies" EXACT []
synonym: "Anophthalmia-Esophageal-Genital Syndrome" EXACT []
synonym: "anophthalmia microphthalmia esophageal atresia" EXACT []
synonym: "MCOPS3" EXACT []
synonym: "Microphthalmia And Esophageal Atresia Syndrome" EXACT []
synonym: "OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM" NARROW []
synonym: "Sox2 Anophthalmia Syndrome" EXACT []
synonym: "SOX2-related eye disorders" EXACT []
synonym: "syndromic microphthalmia type 3" EXACT []
xref: GARD:1443
xref: MESH:C565948
xref: ORDO:77298
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080636 ! syndromic microphthalmia
is_a: DOID:10485 ! esophageal atresia
is_a: DOID:9006534 ! Nervous System Malformations

[Term]
id: DOID:0111802
name: syndromic microphthalmia 14
def: "A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24906020 "DO"]
synonym: "colobomatous microphthalmia-rhizomelic dysplasia syndrome" EXACT []
synonym: "MCOPS14" EXACT []
synonym: "MCSKS" EXACT []
synonym: "MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME" EXACT []
synonym: "microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia" EXACT []
synonym: "MICROPHTHALMIA AND COLOBOMA, WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA" EXACT []
synonym: "microphthalmia or coloboma with or without rhizomelic skeletal dysplasia" EXACT []
xref: MIM:615877
xref: ORDO:424099
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:0080636 ! syndromic microphthalmia
is_a: DOID:12270 ! coloboma

[Term]
id: DOID:0111803
name: syndromic microphthalmia 8
alt_id: MIM:601349
def: "A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12471201 "DO"]
synonym: "MCOPS8" EXACT []
synonym: "microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism" EXACT []
synonym: "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome" EXACT []
synonym: "MMEP" EXACT []
synonym: "MMEP syndrome" EXACT []
synonym: "syndromic microphthalmia type 8" EXACT []
synonym: "Viljoen-Smart syndrome" EXACT []
xref: GARD:3693
xref: MESH:C537686
xref: ORDO:3434
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:0080636 ! syndromic microphthalmia
is_a: DOID:10907 ! microcephaly
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9003576 ! Prognathism

[Term]
id: DOID:0111804
name: syndromic microphthalmia 11
def: "A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22095910 "DO"]
synonym: "MCOPS11" EXACT []
xref: MIM:614402
is_a: DOID:0080636 ! syndromic microphthalmia
created_by: mtutaj
creation_date: 2020-03-02T08:45:39Z

[Term]
id: DOID:0111805
name: syndromic microphthalmia 6
alt_id: MIM:607932
def: "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252212 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21340693 "DO"]
synonym: "Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia" EXACT []
synonym: "Bakrania-Ragge syndrome" EXACT []
synonym: "BMP4-RELATED CONDITION" BROAD []
synonym: "BMP4-RELATED SYNDROMIC MICROPHTHALMIA" EXACT []
synonym: "MCOPS6" EXACT []
synonym: "Microphthalmia And Pituitary Anomalies" EXACT []
synonym: "microphthalmia with brain and digit anomalies" EXACT []
synonym: "microphthalmia with brain and digit developmental anomalies" EXACT []
synonym: "syndromic microphthalmia type 6" EXACT []
xref: GARD:3645
xref: MESH:C566440
xref: ORDO:139471
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080636 ! syndromic microphthalmia
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9006534 ! Nervous System Malformations

[Term]
id: DOID:0111806
name: syndromic microphthalmia 5
alt_id: MIM:610125
def: "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15846561 "DO"]
synonym: "ANOPHTHALMIA-MICROPHTHALMIA SYNDROME" EXACT []
synonym: "early-onset retinal dystrophy and pituitary dysfunction" NARROW []
synonym: "MCOPS5" EXACT []
synonym: "MCOPS5 RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION," EXACT []
synonym: "OTX2-RELATED SYNDROMIC MICROPHTHALMIA" EXACT []
synonym: "syndromic microphthalmia/anophthalmia due to OTX2 mutation" EXACT []
synonym: "syndromic microphthalmia type 5" EXACT []
xref: GARD:3692
xref: MESH:C566441
xref: ORDO:178364
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080636 ! syndromic microphthalmia

[Term]
id: DOID:0111807
name: syndromic microphthalmia 9
alt_id: DOID:0050819
alt_id: MIM:601186
def: "A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17236193 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17273977 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26373900 "DO"]
synonym: "anophthalmia/microphthalmia and pulmonary hypoplasia" EXACT []
synonym: "anophthalmia-pulmonary hypoplasia syndrome" EXACT []
synonym: "Anophthalmia with Pulmonary Hypoplasia" EXACT []
synonym: "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations" EXACT []
synonym: "clinical anophthalmia with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm" EXACT []
synonym: "ISOLATED ANOPHTHALMIA-MICROPHTHALMIA SYNDROME" EXACT []
synonym: "Matthew-Wood syndrome" EXACT []
synonym: "MCOPCB8" NARROW []
synonym: "MCOPS9" EXACT []
synonym: "PMD  MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8" NARROW []
synonym: "PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT" NARROW []
synonym: "pulmonary agenesis microphthalmi and diaphragmatic defect" EXACT []
synonym: "Spear Syndrome" EXACT []
synonym: "syndromic microphthalmia type 9" EXACT []
xref: MESH:C537768
xref: ORDO:2470
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080636 ! syndromic microphthalmia
is_a: DOID:850 ! lung disease
is_a: DOID:9002049 ! Anophthalmia
created_by: slaulede
creation_date: 2019-10-10T16:54:05Z

[Term]
id: DOID:0111808
name: linear skin defects with multiple congenital anomalies 1
alt_id: MIM:309801
def: "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17033964 "DO"]
synonym: "LSDMCA1" EXACT []
synonym: "MCOPS7" EXACT []
synonym: "microphthalmia, dermal aplasia, and sclerocornea" EXACT []
synonym: "microphthalmia-dermal aplasia-sclerocornea syndrome" EXACT []
synonym: "Microphthalmia with linear skin defect syndrome" EXACT []
synonym: "microphthalmia with linear skin lesions syndrome" EXACT []
synonym: "Midas syndrome" EXACT []
synonym: "syndromic microphthalmia 7" EXACT []
synonym: "syndromic microphthalmia type 7" EXACT []
xref: MESH:C537466
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0080636 ! syndromic microphthalmia
is_a: DOID:0111875 ! MLS syndrome

[Term]
id: DOID:0111809
name: syndromic microphthalmia 2
alt_id: MIM:300166
def: "A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4. (DO)" [https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15004558 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8723122 "DO"]
synonym: "ANOP2" EXACT []
synonym: "BCOR-RELATED CONDITION" EXACT []
synonym: "BCOR-RELATED DISORDER" EXACT []
synonym: "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome" EXACT []
synonym: "cataracts, microphthalmia, radiculomegaly and septal heart defects" EXACT []
synonym: "MAA2" EXACT []
synonym: "Marashi Gorlin syndrome" EXACT []
synonym: "MCOPS2" EXACT []
synonym: "oculo facio cardio dental syndrome" EXACT []
synonym: "oculofaciocardiodental syndrome" EXACT []
synonym: "OFCD syndrome" EXACT []
synonym: "syndromic microphthalmia type 2" EXACT []
xref: GARD:4628
xref: MESH:C537465
xref: ORDO:2712
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0080636 ! syndromic microphthalmia
is_a: DOID:1681 ! heart septal defect
is_a: DOID:83 ! cataract

[Term]
id: DOID:0111811
name: syndromic microphthalmia 13
def: "A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24993872 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4998085 "DO"]
synonym: "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation" EXACT []
synonym: "MAINE MICROPHTHALMOS" EXACT []
synonym: "MCOPS13" EXACT []
synonym: "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" EXACT []
xref: MIM:300915
xref: ORDO:431140
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0080636 ! syndromic microphthalmia
is_a: DOID:10907 ! microcephaly

[Term]
id: DOID:0111812
name: syndromic microphthalmia 10
alt_id: MIM:611222
def: "A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16566018 "DO"]
synonym: "MCOPS10" EXACT []
synonym: "microphthalmia and brain atrophy" EXACT []
synonym: "microphthalmia-brain atrophy syndrome" EXACT []
synonym: "MOBA" EXACT []
xref: GARD:9292
xref: MESH:C566985
xref: ORDO:77299
is_a: DOID:0080636 ! syndromic microphthalmia
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:0111813
name: syndactyly type 8
alt_id: MIM:309630
def: "A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23709756 "DO"]
synonym: "fusion of metacarpals 4 and 5" EXACT []
synonym: "Metacarpal 4 5 Fusion" EXACT []
synonym: "MF4" EXACT []
xref: GARD:3559
xref: MESH:C564100
xref: ORDO:2498
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:11193 ! syndactyly
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:0111814
name: methylmalonic acidemia and homocysteinemia cblX type
alt_id: MESH:C563136
def: "A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23000143 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24011988 "DO"]
synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX" EXACT []
synonym: "MAXCX" EXACT []
synonym: "methylmalonic aciduria with homocystinuria, type cblX" EXACT []
synonym: "MRX3" EXACT []
synonym: "XLID3" EXACT []
synonym: "X-linked intellectual developmental disorder 3" EXACT []
synonym: "X-linked mental retardation 3" EXACT []
xref: MIM:309541
xref: ORDO:369962
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:0111815
name: low molecular weight proteinuria with hypercalciuric nephrocalcinosis
alt_id: MIM:308990
def: "A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9062355 "DO"]
synonym: "low molecular weight proteinuria with hypercalciuria and nephrocalcinosis" EXACT []
xref: MESH:C545036
is_a: DOID:0050699 ! Dent disease
is_a: DOID:12679 ! nephrocalcinosis
is_a: DOID:9001738 ! Hypercalciuria

[Term]
id: DOID:0111816
name: syndactyly type 1
def: "A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21167467 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7915184 "DO"]
synonym: "CHROMOSOME 2q35 DUPLICATION SYNDROME" EXACT []
synonym: "craniosynostosis, Philadelphia type" NARROW []
synonym: "SD1" EXACT []
synonym: "SDTY1" EXACT []
synonym: "syndactyly type 1, with or without craniosynostosis" EXACT []
synonym: "syndactyly type I" EXACT []
synonym: "zygodactyly 2" EXACT []
xref: GARD:5081
xref: MESH:C566096
xref: MIM:185900
xref: MONDO:0008512
xref: ORDO:93402
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:11193 ! syndactyly

[Term]
id: DOID:0111817
name: syndactyly type 3
alt_id: MIM:186100
def: "A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12457340 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14361398 "DO"]
synonym: "familial syndactyly type 3" EXACT []
synonym: "Ring and little finger syndactyly" EXACT []
synonym: "ringand little finger syndactyly" EXACT []
synonym: "SDTY3" EXACT []
synonym: "syndactyly of fingers 4 and 5" EXACT []
synonym: "Syndactyly of fingers four and five" EXACT []
synonym: "syndactyly of fingers IV and V" EXACT []
synonym: "syndactyly of the ring and little finger" EXACT []
synonym: "syndactyly type III" EXACT []
xref: GARD:5088
xref: MESH:C538154
xref: ORDO:93404
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11193 ! syndactyly

[Term]
id: DOID:0111818
name: syndactyly type 4
alt_id: MIM:186200
def: "A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17476456 "DO"]
synonym: "Haas type polysyndactyly" EXACT []
synonym: "Haas type syndactyly" EXACT []
synonym: "SD4" EXACT []
synonym: "SDTY4" EXACT []
synonym: "syndactyly type IV" EXACT []
xref: GARD:4434
xref: MESH:C566092
xref: ORDO:93405
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11193 ! syndactyly
is_a: DOID:1148 ! polydactyly

[Term]
id: DOID:0111819
name: syndactyly type 5
alt_id: MIM:186300
def: "A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16222680 "DO"]
synonym: "SDTY5" EXACT []
synonym: "syndactyly type V" EXACT []
synonym: "syndactyly with associated metacarpal and metatarsal fusion" EXACT []
synonym: "syndactyly with metacarpal and metatarsal fusion" EXACT []
xref: GARD:5089
xref: MESH:C538155
xref: ORDO:93406
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11193 ! syndactyly

[Term]
id: DOID:0111820
name: zygodactyly 1
def: "A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16189548 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27072775 "DO"]
synonym: "ZD1" EXACT []
xref: MESH:C565223
xref: MIM:609815
xref: MONDO:0012351
is_a: DOID:11193 ! syndactyly
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0111821
name: ichthyosis follicularis-alopecia-photophobia syndrome 1
def: "A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22105905 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4037843 "DO"]
synonym: "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia" EXACT []
synonym: "ichthyosis follicularis-atrichia-photophobia syndrome 1" EXACT []
synonym: "IFAP1" EXACT []
synonym: "IFAP syndrome 1" EXACT []
synonym: "IFAP syndrome-1 with or without Bresheck syndrome" EXACT []
synonym: "IFAP syndrome with or without Bresheck syndrome" EXACT []
xref: MESH:C536085
xref: MIM:308205
xref: MONDO:0100213
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:9002152 ! IFAP Syndrome
created_by: mtutaj
creation_date: 2019-12-03T10:50:34Z

[Term]
id: DOID:0111822
name: CHILD syndrome
alt_id: MIM:308050
alt_id: OMIA:002117
def: "A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7408908 "DO"]
synonym: "CHILD nevus" EXACT []
synonym: "congenital hemidysplasia with ichthyosiform erythroderma and limb defects" EXACT []
synonym: "congenital hemidysplasia with ichthyosiform nevus and limbs defects" EXACT []
synonym: "unilateral ichthyosiform erythroderma, with ipsilateral malformations, especially absence deformity of limbs" EXACT []
xref: GARD:6039
xref: MESH:C562515
xref: ORDO:139
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0111823
name: autosomal hemophilia A
def: "A blood coagulation disease characterized by autosomal inheritance of a Factor VIII deficiency. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1169993 "DO"]
synonym: "autosomal factor VIII deficiency" EXACT []
synonym: "MILD HEMOPHILIA A" NARROW []
xref: MIM:134500
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:12134 ! factor VIII deficiency

[Term]
id: DOID:0111824
name: Aarskog syndrome
def: "A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. (DO)" [https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome "DO"]
synonym: "Aarskog disease" EXACT []
synonym: "Aarskog-Scott syndrome" EXACT []
synonym: "AAS" EXACT []
synonym: "Facio-Digito-Genital Dysplasia" EXACT []
synonym: "faciodigitogenital syndrome" EXACT []
synonym: "faciogenital dysplasia" EXACT []
synonym: "FGDY" EXACT []
xref: MESH:C535331
xref: ORDO:915
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:0111825
name: autosomal dominant Aarskog syndrome
def: "An Aarskog syndrome characterized by autosomal dominant inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6344635 "DO"]
xref: MIM:100050
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111824 ! Aarskog syndrome

[Term]
id: DOID:0111826
name: Abruzzo-Erickson syndrome
alt_id: MIM:302905
def: "A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22784330 "DO", https://www.ncbi.nlm.nih.gov/pubmed/839509 "DO"]
synonym: "ABERS" EXACT []
synonym: "Charge-Like Syndrome, X-Linked" EXACT []
synonym: "cleft palate-coloboma-deafness syndrome" EXACT []
xref: GARD:360
xref: MESH:C535559
xref: ORDO:921
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:225 ! syndrome
is_a: DOID:9003483 ! Conductive Hearing Loss
is_a: DOID:9004563 ! Maxillofacial Abnormalities
is_a: DOID:9006294 ! Congenital Limb Deformities
created_by: mtutaj
creation_date: 2019-03-26T12:22:42Z

[Term]
id: DOID:0111827
name: X-linked spinal muscular atrophy 2
alt_id: MIM:301830
def: "A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-infantile-spinal-muscular-atrophy "DO", https://www.ncbi.nlm.nih.gov/pubmed/18179898 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3341327 "DO"]
synonym: "Amcx1" EXACT []
synonym: "Arthrogryposis, X-Linked, Type I" EXACT []
synonym: "distal AMC, X-linked" EXACT []
synonym: "Distal Arthrogryposis Multiplex Congenita, X-Linked" EXACT []
synonym: "infantile-onset X-linked spinal muscular atrophy" EXACT []
synonym: "Smax2" EXACT []
synonym: "spinal muscular atrophy with arthrogryposis" EXACT []
synonym: "X-linked spinal muscular atrophy, infantile" EXACT []
synonym: "X-linked spinal muscular atrophy, lethal infantile" EXACT []
synonym: "X-linked spinal muscular atrophy type 2" EXACT []
synonym: "XLSMA" EXACT []
xref: GARD:8521
xref: MESH:C535380
xref: ORDO:1145
is_a: DOID:0050646 ! distal arthrogryposis
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:0111828
name: X-linked cerebellar ataxia
def: "A hereditary ataxia characterized by X-linked inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10807077 "DO"]
xref: ORDO:247765
is_a: DOID:0050953 ! X-linked hereditary ataxia

[Term]
id: DOID:0111829
name: X-linked spinocerebellar ataxia 1
def: "An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10797423 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22912398 "DO"]
synonym: "Olivopontocerebellar Atrophy, X-Linked" EXACT []
synonym: "OPCAX" EXACT []
synonym: "OPCA, X-Linked" EXACT []
synonym: "SCAX1" EXACT []
synonym: "X-linked progressive cerebellar ataxia" EXACT []
synonym: "X-linked spinocerebellar ataxia" EXACT []
xref: MESH:C563134
xref: MIM:302500
xref: MONDO:0010547
xref: ORDO:1175
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0111828 ! X-linked cerebellar ataxia
is_a: DOID:14784 ! olivopontocerebellar atrophy
is_a: DOID:9002121 ! Spinocerebellar Ataxias

[Term]
id: DOID:0111830
name: X-linked spinocerebellar ataxia 2
def: "An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13541590 "DO"]
synonym: "early-onset cerebellar ataxia with extrapyramidal involvement" EXACT []
synonym: "SCAX2" EXACT []
xref: GARD:9978
xref: MESH:C537314
xref: MIM:302600
xref: MONDO:0010548
is_a: DOID:0111828 ! X-linked cerebellar ataxia
is_a: DOID:9002121 ! Spinocerebellar Ataxias

[Term]
id: DOID:0111831
name: X-linked spinocerebellar ataxia 3
alt_id: MIM:301790
def: "An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3614654 "DO"]
synonym: "SCAX3" EXACT []
synonym: "Schmidley syndrome" EXACT []
synonym: "X-linked ataxia-deafness syndrome" EXACT []
synonym: "X-linked spinocerebellar ataxia type 3" EXACT []
xref: GARD:9981
xref: MESH:C537315
xref: ORDO:85297
is_a: DOID:0111828 ! X-linked cerebellar ataxia
is_a: DOID:9002121 ! Spinocerebellar Ataxias

[Term]
id: DOID:0111832
name: X-linked spinocerebellar ataxia 4
alt_id: MIM:301840
def: "An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3470628 "DO"]
synonym: "SCAX4" EXACT []
synonym: "X-linked ataxia-dementia syndrome" EXACT []
synonym: "X-linked spinocerebellar ataxia type 4" EXACT []
xref: GARD:9980
xref: MESH:C537316
xref: ORDO:85292
is_a: DOID:0111828 ! X-linked cerebellar ataxia
is_a: DOID:9002121 ! Spinocerebellar Ataxias

[Term]
id: DOID:0111833
name: X-linked spinocerebellar ataxia 5
def: "An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18241076 "DO"]
synonym: "SCAX5" EXACT []
synonym: "X-linked non progressive cerebellar ataxia" EXACT []
xref: MESH:C567478
xref: MIM:300703
xref: MONDO:0010404
xref: ORDO:314978
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0111828 ! X-linked cerebellar ataxia
is_a: DOID:9002121 ! Spinocerebellar Ataxias
created_by: mtutaj
creation_date: 2019-07-15T08:51:37Z

[Term]
id: DOID:0111834
name: X-linked reticulate pigmentary disorder
def: "A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27019227 "DO"]
synonym: "familial cutaneous amyloidosis" EXACT []
synonym: "Partington disease" EXACT []
synonym: "PDR" EXACT []
synonym: "Pigmentary disorder, reticulate, with systemic manifestations, X-linked" EXACT []
synonym: "POLA1-RELATED CONDITION" BROAD []
synonym: "reticulate pigmentary disorder with systemic manifestations" EXACT []
synonym: "X-linked reticulate pigmentary disorder with systemic manifestations" EXACT []
synonym: "XLPDR" EXACT []
xref: MESH:C564461
xref: MIM:301220
xref: ORDO:85453
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9004492 ! Familial Amyloidosis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:0111835
name: congenital nongoitrous hypothyroidism 9
def: "A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30061370 "DO"]
synonym: "CHNG9" EXACT []
xref: MIM:301035
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism

[Term]
id: DOID:0111836
name: congenital nongoitrous hypothyroidism 7
alt_id: MIM:618573
def: "A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9141550 "DO"]
synonym: "central hypothyroidism due to TRH receptor deficiency" EXACT []
synonym: "CHNG7" EXACT []
synonym: "generalized thyrotropin-releasing hormone resistance" EXACT []
synonym: "resistance to thyrotropin-releasing hormone syndrome" EXACT []
synonym: "TRH resistance syndrome" EXACT []
xref: MESH:C566049
xref: ORDO:99832
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism

[Term]
id: DOID:0111837
name: congenital nongoitrous hypothyroidism 8
def: "A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27603907 "DO"]
synonym: "CHNG8" EXACT []
xref: MIM:301033
xref: MONDO:0026731
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism
created_by: rgd
creation_date: 2017-03-28T00:00:00Z

[Term]
id: DOID:0111838
name: Basilicata-Akhtar syndrome
def: "A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30224647 "DO"]
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 36" EXACT []
synonym: "MRXS36" EXACT []
synonym: "MRXSBA" EXACT []
synonym: "syndromic X-linked mental retardation 36" EXACT []
synonym: "syndromic X-linked mental retardation, Basilicata-Akhtar type" EXACT []
xref: MIM:301032
xref: MONDO:0026730
is_a: DOID:0060309 ! syndromic X-linked intellectual disability

[Term]
id: DOID:0111839
name: congenital disorder of glycosylation Icc
def: "A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31036665 "DO"]
synonym: "CDG1CC" EXACT []
synonym: "congenital disorder of glycosylation type 1CC" EXACT []
synonym: "congenital disorder of glycosylation type Icc" EXACT []
synonym: "MAGT1-RELATED CONDITION" BROAD []
xref: MIM:301031
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0111840
name: Van Esch-O'Driscoll syndrome
def: "A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31006512 "DO"]
synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, VAN ESCH-O'DRISCOLL TYPE" EXACT []
synonym: "MRXSVEOD" EXACT []
synonym: "POLA1-RELATED CONDITION" BROAD []
synonym: "VEODS" EXACT []
synonym: "X-LINKED INTELLECTUAL DISABILITY, VAN ESCH TYPE" EXACT []
xref: MIM:301030
xref: ORDO:163976
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0111841
name: Shukla-Vernon syndrome
def: "A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30941876 "DO"]
synonym: "SHUVER" EXACT []
xref: EFO:0010278
xref: MIM:301029
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:0111842
name: Keipert syndrome
alt_id: MIM:301026
def: "A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30982611 "DO"]
synonym: "KPTS" EXACT []
synonym: "nasodigitoacoustic syndrome" EXACT []
xref: GARD:267
xref: MESH:C538337
xref: NCI:C186306
xref: ORDO:2662
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:0111843
name: Paganini-Miozzo syndrome
def: "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30471091 "DO"]
synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, PAGANINI-MIOZZO TYPE" EXACT []
synonym: "MRXSPM" EXACT []
xref: EFO:0010261
xref: MIM:301025
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0111844
name: X-linked intellectual developmental disorder 108
def: "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30335141 "DO"]
synonym: "MRX108" EXACT []
synonym: "X-linked mental retardation 108" EXACT []
xref: MIM:301024
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:0111845
name: Mullegama-Klein-Martinez syndrome
def: "A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28296084 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30765867 "DO"]
synonym: "MKMS" EXACT []
synonym: "NEDXCF" EXACT []
synonym: "STAG2-RELATED CONDITION" BROAD []
synonym: "STAG2-related disorder" BROAD []
synonym: "X-linked neurodevelopmental disorder with craniofacial abnormalities" EXACT []
xref: MIM:301022
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: gthayman
creation_date: 2019-04-12T07:15:14Z

[Term]
id: DOID:0111846
name: X-linked congenital hemolytic anemia
def: "A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26944472 "DO"]
synonym: "HACXL" EXACT []
xref: MIM:301015
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:589 ! congenital hemolytic anemia

[Term]
id: DOID:0111847
name: osteogenesis imperfecta type 19
def: "An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27380894 "DO"]
synonym: "OI19" EXACT []
synonym: "osteogenesis imperfecta type XIX" EXACT []
xref: MIM:301014
xref: NCI:C164153
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0111848
name: osteogenesis imperfecta type 18
def: "An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29358272 "DO"]
synonym: "OI18" EXACT []
synonym: "osteogenesis imperfecta type XVIII" EXACT []
xref: MIM:617952
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta
created_by: mtutaj
creation_date: 2019-03-20T09:45:39Z

[Term]
id: DOID:0111849
name: osteogenesis imperfecta type 20
def: "An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31564437 "DO"]
synonym: "OI20" EXACT []
synonym: "osteogenesis imperfecta type XX" EXACT []
xref: MIM:618644
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta

[Term]
id: DOID:0111850
name: primary ciliary dyskinesia 36
def: "A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28041644 "DO"]
synonym: "CILD36" EXACT []
synonym: "primary ciliary dyskinesia 36, with or without situs inversus" EXACT []
synonym: "X-linked primary ciliary dyskinesia 36" EXACT []
xref: MIM:300991
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: slaulede
creation_date: 2018-08-16T17:22:29Z

[Term]
id: DOID:0111851
name: primary ciliary dyskinesia 44
def: "A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31959991 "DO"]
synonym: "CILD44" EXACT []
synonym: "primary ciliary dyskinesia 44 without situs inversus" EXACT []
xref: MIM:618781
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0111852
name: primary ciliary dyskinesia 38
def: "A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29727692 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29727693 "DO"]
synonym: "CILD38" EXACT []
synonym: "primary ciliary dyskinesia 38 with or without situs inversus" EXACT []
xref: MIM:618063
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:0111853
name: primary ciliary dyskinesia 40
def: "A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30471717 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30471718 "DO"]
synonym: "CILD40" EXACT []
synonym: "DNAH9-RELATED CONDITION" EXACT []
synonym: "primary ciliary dyskinesia 40 with or without situs inversus" EXACT []
xref: MIM:618300
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: slaulede
creation_date: 2018-06-18T17:13:56Z

[Term]
id: DOID:0111854
name: primary ciliary dyskinesia 39
def: "A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30388400 "DO"]
synonym: "CILD39" EXACT []
synonym: "LRRC56-RELATED CONDITION" EXACT []
synonym: "primary ciliary dyskinesia 39 with or without situs inversus" EXACT []
xref: MIM:618254
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0111855
name: primary ciliary dyskinesia 42
def: "A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25048963 "DO"]
synonym: "CILD42" EXACT []
synonym: "primary ciliary dyskinesia 42 without situs inversus" EXACT []
xref: MIM:618695
xref: NCI:C202610
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0111856
name: primary ciliary dyskinesia 43
def: "A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31630787 "DO"]
synonym: "CILD43" EXACT []
synonym: "primary ciliary dyskinesia 43 with or without situs inversus" EXACT []
xref: MIM:618699
xref: MONDO:0032874
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:0111857
name: primary ciliary dyskinesia 45
def: "A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31978331 "DO"]
synonym: "CILD45" EXACT []
synonym: "primary ciliary dyskinesia 45 without situs inversus" EXACT []
xref: MIM:618801
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9562 ! primary ciliary dyskinesia

[Term]
id: DOID:0111858
name: primary ciliary dyskinesia 41
def: "A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30665704 "DO"]
synonym: "CILD41" EXACT []
synonym: "GAS2L2-RELATED CONDITION" EXACT []
xref: MIM:618449
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: rgd
creation_date: 2015-07-14T00:00:00Z

[Term]
id: DOID:0111859
name: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
def: "A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27811305/ "DO"]
synonym: "AMMECR1-RELATED CONDITION" EXACT []
synonym: "MFHIEN" EXACT []
xref: MIM:300990
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:12679 ! nephrocalcinosis
is_a: DOID:225 ! syndrome
is_a: DOID:2373 ! hereditary elliptocytosis
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0111860
name: AMME complex
alt_id: MIM:300194
def: "A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12011158/ "DO"]
synonym: "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome" EXACT []
synonym: "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis" EXACT []
synonym: "AMME syndrome" EXACT []
synonym: "ATS-MR" EXACT []
synonym: "chromosome Xq22.3 telomeric deletion syndrome" EXACT []
xref: MESH:C564570
xref: ORDO:86818
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10983 ! Alport syndrome
is_a: DOID:2373 ! hereditary elliptocytosis
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0111861
name: Meester-Loeys syndrome
def: "A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27632686/ "DO"]
synonym: "BGN-RELATED CONDITION" BROAD []
synonym: "MRLS" EXACT []
xref: MIM:300989
xref: NCI:C187989
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:225 ! syndrome
created_by: mtutaj
creation_date: 2019-03-19T15:36:14Z

[Term]
id: DOID:0111862
name: congenital bilateral absence of vas deferens
def: "A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27476656/ "DO"]
synonym: "absence of vas deferens" EXACT []
synonym: "absent vasa" EXACT []
synonym: "CAVD" EXACT []
synonym: "CBAVD" EXACT []
synonym: "congenital absence of vas deferens" EXACT []
synonym: "Congenital Aplasia of Vas Deferens" EXACT []
synonym: "congenital bilateral absence of the vas deferens" EXACT []
synonym: "congenital bilateral agenesis of vas deferens" EXACT []
synonym: "congenital bilateral aplasia of the vas deferens" EXACT []
synonym: "congenital bilateral aplasia of vas deferens" EXACT []
xref: MESH:C535984
xref: MIM:PS277180
xref: NCI:C129303
xref: ORDO:48
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:14227 ! azoospermia
created_by: mtutaj
creation_date: 2019-09-10T09:58:44Z

[Term]
id: DOID:0111863
name: X-linked congenital bilateral absence of vas deferens
def: "A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27476656/ "DO"]
synonym: "CBAVDX" EXACT []
synonym: "congenital bilateral aplasia of vas deferens, X-linked" EXACT []
xref: MIM:300985
is_a: DOID:0111862 ! congenital bilateral absence of vas deferens

[Term]
id: DOID:0111864
name: autosomal recessive congenital bilateral absence of vas deferens
def: "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7529962/ "DO"]
synonym: "congenital bilateral aplasia of vas deferens from CFTR mutation" EXACT []
xref: MIM:277180
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111862 ! congenital bilateral absence of vas deferens
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:0111865
name: MEND syndrome
def: "A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22229330/ "DO", https://pubmed.ncbi.nlm.nih.gov/24700572/ "DO"]
synonym: "male EBP disorder with neurological defects" EXACT []
synonym: "male EBP disorder with neurologic defects" EXACT []
synonym: "MEND" EXACT []
xref: MIM:300960
xref: ORDO:401973
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1701 ! steroid inherited metabolic disorder
is_a: DOID:225 ! syndrome
is_a: DOID:3146 ! lipid metabolism disorder
created_by: gthayman
creation_date: 2019-04-10T00:00:00Z

[Term]
id: DOID:0111866
name: trichothiodystrophy
def: "A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. (DO)" [https://ghr.nlm.nih.gov/condition/trichothiodystrophy "DO", https://pubmed.ncbi.nlm.nih.gov/18603627/ "DO"]
synonym: "IBIDS syndrome" EXACT []
synonym: "IBIDS syndromes" EXACT []
synonym: "ichthyosiform erythroderma with hair abnormality and mental and growth retardation" EXACT []
synonym: "Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature" EXACT []
synonym: "PIBIDS Syndrome" EXACT []
synonym: "PIBIDS syndromes" EXACT []
synonym: "Pollitt syndrome" EXACT []
synonym: "Trichothiodystrophies" EXACT []
synonym: "trichothiodystrophy syndrome" EXACT []
synonym: "trichothiodystrophy syndromes" EXACT []
synonym: "trichothiodystrophy with congenital ichtyosis" EXACT []
synonym: "TTD" EXACT []
xref: MESH:D054463
xref: MIM:PS601675
xref: ORDO:33364
is_a: DOID:225 ! syndrome
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0111867
name: nonphotosensitive trichothiodystrophy
def: "A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation. (DO)" [https://ghr.nlm.nih.gov/condition/trichothiodystrophy "DO", https://pubmed.ncbi.nlm.nih.gov/18603627/ "DO"]
synonym: "ABHS" EXACT []
synonym: "Amish Brittle Hair Brain Syndrome" EXACT []
synonym: "Amish Brittle Hair Syndrome" EXACT []
synonym: "BIDS" EXACT []
synonym: "BIDS BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME" EXACT []
synonym: "BIDS Syndrome" EXACT []
synonym: "BIDS Syndromes" EXACT []
synonym: "BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME" EXACT []
synonym: "Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome" EXACT []
synonym: "Hair Brain Syndrome" EXACT []
synonym: "Hair-Brain Syndromes" EXACT []
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111866 ! trichothiodystrophy

[Term]
id: DOID:0111868
name: nonphotosensitive trichothiodystrophy 5
def: "A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25612912/ "DO", https://pubmed.ncbi.nlm.nih.gov/31880405/ "DO"]
synonym: "RNF113A-RELATED CONDITION" EXACT []
synonym: "TTD5" EXACT []
xref: MIM:300953
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy

[Term]
id: DOID:0111869
name: photosensitive trichothiodystrophy 2
def: "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9012405/ "DO"]
synonym: "TTD2" EXACT []
xref: MIM:616390
xref: MONDO:0014615
xref: NCI:C173103
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2960 ! photosensitive trichothiodystrophy

[Term]
id: DOID:0111870
name: nonphotosensitive trichothiodystrophy 7
def: "A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31374204/ "DO"]
synonym: "TTD7" EXACT []
xref: MIM:618546
xref: NCI:C173102
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy

[Term]
id: DOID:0111871
name: photosensitive trichothiodystrophy 3
def: "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15220921/ "DO"]
synonym: "trichothiodystrophy, complementation group A" EXACT []
synonym: "TTD3" EXACT []
synonym: "TTDA" EXACT []
xref: MIM:616395
xref: NCI:C173099
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2960 ! photosensitive trichothiodystrophy

[Term]
id: DOID:0111872
name: nonphotosensitive trichothiodystrophy 6
def: "A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26996949/ "DO"]
synonym: "trichothiodystrophy-6" EXACT []
synonym: "TTD6" EXACT []
xref: MIM:616943
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy

[Term]
id: DOID:0111873
name: photosensitive trichothiodystrophy 1
def: "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9195225/ "DO"]
synonym: "ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION" EXACT []
synonym: "trichothiodystrophy type 1" EXACT []
synonym: "TTD1" EXACT []
synonym: "TTDP" EXACT []
xref: MESH:C564734
xref: MIM:601675
xref: MONDO:0011125
xref: NCI:C156433
is_a: DOID:0050427 ! xeroderma pigmentosum
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:2960 ! photosensitive trichothiodystrophy
is_a: DOID:4123 ! nail disease
is_a: DOID:421 ! hair disease
is_a: DOID:9005622 ! Congenital Ichthyosis with Trichothiodystrophy

[Term]
id: DOID:0111874
name: Sabinas brittle hair syndrome
alt_id: MIM:211390
def: "A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7325159/ "DO"]
synonym: "brittle hair and mental deficit" EXACT []
synonym: "brittle hair-mental deficiency syndrome" EXACT []
synonym: "Sabinas syndrome" EXACT []
synonym: "trichothiodystrophy type B" EXACT []
xref: MESH:C536320
xref: ORDO:3123
is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy

[Term]
id: DOID:0111875
name: MLS syndrome
def: "A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20301767/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK7041/ "DO"]
synonym: "linear skin defects with multiple congenital anomalies" EXACT []
synonym: "microphthalmia with linear skin defects" EXACT []
synonym: "microphthalmia with linear skin defects syndrome" EXACT []
synonym: "MLS" EXACT []
xref: MIM:PS309801
is_a: DOID:0080015 ! physical disorder
is_a: DOID:225 ! syndrome
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:0111876
name: linear skin defects with multiple congenital anomalies 3
def: "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25772934/ "DO"]
synonym: "linear skin defects with cardiomyopathy and other congenital anomalies" EXACT []
synonym: "LSDMCA3" EXACT []
xref: MIM:300952
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0111875 ! MLS syndrome

[Term]
id: DOID:0111877
name: linear skin defects with multiple congenital anomalies 2
def: "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23122588/ "DO", https://pubmed.ncbi.nlm.nih.gov/9747372/ "DO"]
synonym: "APLCC" EXACT []
synonym: "LSDMCA2" EXACT []
synonym: "reticulolinear aplasia cutis congenita with microcephaly, facial dysmorphism, and other congenital anomalies" EXACT []
xref: MIM:300887
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0111875 ! MLS syndrome
is_a: DOID:10907 ! microcephaly
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:0111878
name: Diamond-Blackfan anemia 7
alt_id: MIM:612562
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19061985/ "DO"]
synonym: "DBA7" EXACT []
synonym: "RPL11-related Diamond-Blackfan anemia" EXACT []
xref: MESH:C567254
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia
created_by: mtutaj
creation_date: 2019-06-25T13:20:08Z

[Term]
id: DOID:0111879
name: Diamond-Blackfan anemia 6
alt_id: MIM:612561
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19061985/ "DO"]
synonym: "Aase Smith Syndrome 2" EXACT []
synonym: "Aase-Smith syndrome II" EXACT []
synonym: "anemia and triphalangeal thumbs" EXACT []
synonym: "congenital anemia and triphalangeal thumbs" EXACT []
synonym: "DBA6" EXACT []
synonym: "hypoplastic anemia-triphalangeal thumbs, Aase-Smith type" EXACT []
synonym: "RPL5-related Diamond-Blackfan anemia" EXACT []
xref: MESH:C538442
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia

[Term]
id: DOID:0111880
name: Diamond-Blackfan anemia 17
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25424902/ "DO"]
synonym: "DBA17" EXACT []
synonym: "RPS27-related Diamond-Blackfan anemia" EXACT []
xref: MIM:617409
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia

[Term]
id: DOID:0111881
name: Diamond-Blackfan anemia 8
alt_id: MIM:612563
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19061985/ "DO"]
synonym: "DBA8" EXACT []
synonym: "RPS7-RELATED CONDITION" EXACT []
synonym: "RPS7-related Diamond-Blackfan anemia" EXACT []
xref: MESH:C567253
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia
created_by: slaulede
creation_date: 2018-09-11T15:16:36Z

[Term]
id: DOID:0111882
name: Diamond-Blackfan anemia 12
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23812780/ "DO"]
synonym: "DBA12" EXACT []
synonym: "RPL15-RELATED CONDITION" EXACT []
synonym: "RPL15-related Diamond-Blackfan anemia" EXACT []
xref: MIM:615550
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia
created_by: mtutaj
creation_date: 2019-10-28T10:44:39Z

[Term]
id: DOID:0111883
name: Diamond-Blackfan anemia 5
alt_id: MIM:612528
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18535205/ "DO"]
synonym: "DBA5" EXACT []
synonym: "RPL35A-RELATED CONDITION" EXACT []
synonym: "RPL35A-related Diamond-Blackfan anemia" EXACT []
xref: MESH:C567280
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia
created_by: slaulede
creation_date: 2018-04-26T10:14:05Z

[Term]
id: DOID:0111884
name: Diamond-Blackfan anemia 9
alt_id: MIM:613308
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20116044/ "DO"]
synonym: "DBA9" EXACT []
synonym: "RPS10-related Diamond-Blackfan anemia" EXACT []
xref: MESH:C567650
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia

[Term]
id: DOID:0111885
name: Diamond-Blackfan anemia 2
alt_id: MIM:606129
def: "A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11264183/ "DO"]
synonym: "DBA2" EXACT []
xref: MESH:C536130
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia

[Term]
id: DOID:0111886
name: Diamond-Blackfan anemia 19
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28280134/ "DO"]
synonym: "DBA19" EXACT []
synonym: "RPL35-related Diamond-Blackfan anemia" EXACT []
xref: MIM:618312
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia

[Term]
id: DOID:0111887
name: Diamond-Blackfan anemia 3
alt_id: MIM:610629
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17186470/ "DO"]
synonym: "DBA3" EXACT []
synonym: "RPS24-related Diamond-Blackfan anemia" EXACT []
xref: MESH:C536355
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia
created_by: mtutaj
creation_date: 2019-06-25T13:47:13Z

[Term]
id: DOID:0111888
name: Diamond-Blackfan anemia 10
alt_id: MIM:613309
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20116044/ "DO"]
synonym: "DBA10" EXACT []
synonym: "RPS26-related Diamond-Blackfan anemia" EXACT []
xref: MESH:C567649
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia

[Term]
id: DOID:0111889
name: Diamond-Blackfan anemia 13
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24829207/ "DO"]
synonym: "DBA13" EXACT []
synonym: "RPS29-related Diamond-Blackfan anemia" EXACT []
xref: MIM:615909
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia

[Term]
id: DOID:0111890
name: Diamond-Blackfan anemia 4
alt_id: MIM:612527
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17647292/ "DO"]
synonym: "DBA4" EXACT []
synonym: "RPS17-related Diamond-Blackfan anemia" EXACT []
xref: MESH:C567281
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia

[Term]
id: DOID:0111891
name: Diamond-Blackfan anemia 20
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27909223/ "DO"]
synonym: "DBA20" EXACT []
synonym: "RPS15A-related Diamond-Blackfan anemia" EXACT []
xref: MIM:618313
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia

[Term]
id: DOID:0111892
name: Diamond-Blackfan anemia 11
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22431104/ "DO"]
synonym: "DBA11" EXACT []
synonym: "RPL26-related Diamond-Blackfan anemia" EXACT []
xref: MIM:614900
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia

[Term]
id: DOID:0111893
name: Diamond-Blackfan anemia 16
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25424902/ "DO"]
synonym: "DBA16" EXACT []
synonym: "RPL27-related Diamond-Blackfan anemia" EXACT []
xref: MIM:617408
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia
created_by: mtutaj
creation_date: 2020-03-06T11:21:22Z

[Term]
id: DOID:0111894
name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis
def: "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24942156/ "DO"]
synonym: "DBA15" EXACT []
xref: MIM:606164
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:0111895
name: Diamond-Blackfan anemia 1
alt_id: MIM:105650
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9988267/ "DO"]
synonym: "DBA1" EXACT []
synonym: "RPS19-related Diamond-Blackfan anemia" EXACT []
xref: MESH:C567302
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia
created_by: rgd
creation_date: 2016-03-11T00:00:00Z

[Term]
id: DOID:0111896
name: Diamond-Blackfan anemia 18
def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28280134/ "DO"]
synonym: "DBA18" EXACT []
synonym: "RPL18-related Diamond-Blackfan anemia" EXACT []
xref: MIM:618310
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1339 ! Diamond-Blackfan anemia

[Term]
id: DOID:0111897
name: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
def: "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11424144/ "DO", https://pubmed.ncbi.nlm.nih.gov/24942156/ "DO"]
synonym: "DBA14" EXACT []
xref: MIM:300946
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1339 ! Diamond-Blackfan anemia
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:0111898
name: CK syndrome
alt_id: DOID:9002836
def: "A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19377476/ "DO", https://pubmed.ncbi.nlm.nih.gov/21129721/ "DO"]
synonym: "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" EXACT []
synonym: "X-linked mental retardation with thin body habitus and cortical malformation" EXACT []
xref: MIM:300831
xref: ORDO:251383
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9005768 ! Thinness
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:0111899
name: X-linked thrombophilia due to factor IX defect
alt_id: MIM:300807
def: "A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19846852/ "DO"]
synonym: "protection against deep venous thrombosis" NARROW []
synonym: "THPH8" EXACT []
xref: MESH:C567581
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:2452 ! thrombophilia

[Term]
id: DOID:0111900
name: autosomal dominant thrombophilia due to protein S deficiency
alt_id: MIM:612336
def: "A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/6239102/ "DO", https://pubmed.ncbi.nlm.nih.gov/7545463/ "DO", https://pubmed.ncbi.nlm.nih.gov/7780139/ "DO"]
synonym: "HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY" BROAD []
synonym: "hereditary thrombophilia due to protein S deficiency, autosomal dominant" EXACT []
synonym: "PROS1-RELATED CONDITION" BROAD []
synonym: "REDUCED PROTEIN S ACTIVITY" BROAD []
synonym: "THPH5" EXACT []
xref: MESH:C567347
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2451 ! protein S deficiency

[Term]
id: DOID:0111901
name: heparin cofactor II deficiency
def: "A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2647747/ "DO", https://pubmed.ncbi.nlm.nih.gov/8562924/ "DO"]
synonym: "HCF 2 deficiency" EXACT []
synonym: "HCF2 deficiency" EXACT []
synonym: "HCF II deficiency" EXACT []
synonym: "susceptibility to thrombophilia due to heparin cofactor II deficiency" EXACT []
synonym: "THPH10" EXACT []
synonym: "thrombophilia due to heparin cofactor II deficiency" EXACT []
synonym: "THROMBOTIC STROKE" BROAD []
xref: MESH:C562865
xref: MIM:612356
xref: MONDO:0012876
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060903 ! thrombosis
is_a: DOID:2452 ! thrombophilia

[Term]
id: DOID:0111902
name: thrombophilia due to activated protein C resistance
alt_id: MESH:C566056
alt_id: MIM:188055
def: "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. (DO)" [https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia "DO", https://pubmed.ncbi.nlm.nih.gov/8164741/ "DO", https://pubmed.ncbi.nlm.nih.gov/8430067/ "DO", https://pubmed.ncbi.nlm.nih.gov/9454742/ "DO"]
synonym: "activated protein C resistance" EXACT []
synonym: "APC resistance" EXACT []
synonym: "Apc Resistance, Leiden Type" EXACT []
synonym: "Factor V Leiden Thrombophilia" EXACT []
synonym: "Hereditary Resistance To Activated Protein C" EXACT []
synonym: "PCCF DEFICIENCY" EXACT []
synonym: "PROC COFACTOR DEFICIENCY" EXACT []
synonym: "Protein C Cofactor Deficiency" EXACT []
synonym: "THPH2" EXACT []
synonym: "Thrombophilia due to Deficiency of Activated Protein C Cofactor" EXACT []
synonym: "thrombophilia due to factor V Leiden" EXACT []
synonym: "thrombophilia V" EXACT []
xref: MESH:D020016
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2452 ! thrombophilia
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:0111903
name: thrombophilia due to HRG deficiency
alt_id: MIM:613116
def: "A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8236132/ "DO", https://pubmed.ncbi.nlm.nih.gov/9414276/ "DO"]
synonym: "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency" EXACT []
synonym: "hereditary thrombophilia due to congenital HRG deficiency" EXACT []
synonym: "THPH11" EXACT []
synonym: "thrombophilia due to elevated histidine-rich glycoprotein" EXACT []
synonym: "thrombophilia due to histidine-rich glycoprotein deficiency" EXACT []
xref: MESH:C567737
xref: ORDO:217467
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2452 ! thrombophilia

[Term]
id: DOID:0111904
name: autosomal recessive thrombophilia due to protein C deficiency
alt_id: MIM:612304
def: "A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10942114/ "DO", https://pubmed.ncbi.nlm.nih.gov/6139528/ "DO"]
synonym: "Hereditary Thrombophilia, due to Protein C Deficiency, Autosomal Recessive" EXACT []
synonym: "PROC deficiency, autosomal recessive" EXACT []
synonym: "protein C deficiency, autosomal recessive" EXACT []
synonym: "THPH4" EXACT []
xref: MESH:C567353
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9006363 ! Congenital Thrombotic Disease, due to Protein C Deficiency

[Term]
id: DOID:0111905
name: autosomal recessive thrombophilia due to protein S deficiency
alt_id: MIM:614514
def: "A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10063989/ "DO", https://pubmed.ncbi.nlm.nih.gov/20484936/ "DO"]
synonym: "autosomal recessive thrombophilia due to congenital protein S deficiency" EXACT []
synonym: "HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY" BROAD []
synonym: "Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Recessive" EXACT []
synonym: "PROS1-RELATED CONDITION" BROAD []
synonym: "reduced protein S activity" BROAD []
synonym: "severe hereditary thrombophilia due to congenital protein S deficiency" EXACT []
synonym: "THPH6" EXACT []
xref: MESH:C567348
xref: ORDO:743
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2451 ! protein S deficiency
created_by: mtutaj
creation_date: 2019-02-13T13:10:28Z

[Term]
id: DOID:0111906
name: thrombophilia due to decreased release of PLAT
alt_id: MIM:612348
def: "A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12643326/ "DO", https://pubmed.ncbi.nlm.nih.gov/665314/ "DO"]
synonym: "ACTIVATOR" NARROW []
synonym: "familial hyperfibrinolysis due to increased release of tissue plasminogen activator" EXACT []
synonym: "Familial Thrombophilia due to Decreased Release of Tissue Plasminogen Activator" EXACT []
synonym: "THPH9" EXACT []
synonym: "THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN" EXACT []
xref: MESH:C567341
is_a: DOID:2452 ! thrombophilia

[Term]
id: DOID:0111907
name: thrombophilia due to thrombin defect
def: "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11570053/ "DO", https://pubmed.ncbi.nlm.nih.gov/22716977/ "DO"]
synonym: "prothrombin-related thrombophilia" EXACT []
synonym: "THPH1" EXACT []
synonym: "THROMBOPHILIA DUE TO FACTOR 2 DEFECT" EXACT []
xref: GARD:10815
xref: MIM:188050
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2452 ! thrombophilia
created_by: slaulede
creation_date: 2018-09-11T14:11:44Z

[Term]
id: DOID:0111908
name: thrombophilia due to thrombomodulin defect
alt_id: MIM:614486
def: "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22036808/ "DO"]
synonym: "THBD-related bleeding disorder" EXACT []
synonym: "THBD-related coagulopathy" EXACT []
synonym: "THPH12" EXACT []
synonym: "thrombomodulin-related bleeding disorder" EXACT []
synonym: "thrombomodulin-related coagulopathy" EXACT []
xref: MESH:C566057
xref: ORDO:436169
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:2452 ! thrombophilia
created_by: mtutaj
creation_date: 2019-03-21T13:56:44Z

[Term]
id: DOID:0111909
name: autosomal dominant thrombophilia due to protein C deficiency
alt_id: MIM:176860
def: "A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10942114/ "DO", https://pubmed.ncbi.nlm.nih.gov/2437584/ "DO", https://pubmed.ncbi.nlm.nih.gov/6547008/ "DO"]
synonym: "HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY" EXACT []
synonym: "Hereditary Thrombophilia, due To Protein C Deficiency, Autosomal Dominant" EXACT []
synonym: "PROC Deficiency, Autosomal Dominant" EXACT []
synonym: "PROC DEFICIENCY, AUTOSOMAL DOMINANT PROTEIN C DEFICIENCY, ACQUIRED" RELATED []
synonym: "protein C deficiency, autosomal dominant" EXACT []
synonym: "THPH3" EXACT []
xref: MESH:C567163
is_a: DOID:9006363 ! Congenital Thrombotic Disease, due to Protein C Deficiency

[Term]
id: DOID:0111910
name: spermatogenic failure
def: "A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30656449/ "DO"]
synonym: "SPGF" EXACT []
xref: EFO:0000279
xref: MIM:PS258150
is_a: DOID:12336 ! male infertility
created_by: rgd
creation_date: 2020-07-23T00:00:00Z

[Term]
id: DOID:0111911
name: spermatogenic failure 34
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30137358/ "DO"]
synonym: "SPGF34" EXACT []
xref: MIM:618153
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: rgd
creation_date: 2017-02-14T00:00:00Z

[Term]
id: DOID:0111912
name: spermatogenic failure 41
def: "A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31621862/ "DO"]
synonym: "SPGF41" EXACT []
xref: MIM:618670
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0111913
name: spermatogenic failure 30
def: "A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28536242/ "DO"]
synonym: "SPGF30" EXACT []
xref: MIM:618110
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0111914
name: spermatogenic failure 35
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30683861/ "DO"]
synonym: "SPGF35" EXACT []
xref: MIM:618341
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0111915
name: spermatogenic failure 33
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30122540/ "DO"]
synonym: "MALE INFERTILITY DUE TO SPERM MOTILITY DISORDER" EXACT []
synonym: "MALE INFERTILITY WITH SPERMATOGENESIS DISORDER DUE TO SINGLE GENE MUTATION" EXACT []
synonym: "male infertility with teratozoospermia due to single gene mutation" BROAD []
synonym: "non-syndromic male infertility due to sperm motility disorder" EXACT []
synonym: "SPGF33" EXACT []
xref: MIM:618152
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0111916
name: spermatogenic failure 28
def: "A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30075111/ "DO"]
synonym: "SPGF28" EXACT []
xref: MIM:618086
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2019-03-15T14:05:31Z

[Term]
id: DOID:0111917
name: spermatogenic failure 43
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31048344/ "DO", https://pubmed.ncbi.nlm.nih.gov/31151990/ "DO"]
synonym: "SPGF43" EXACT []
xref: MIM:618751
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0111918
name: spermatogenic failure 40
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31413122/ "DO"]
synonym: "SPGF40" EXACT []
xref: MIM:618664
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0111919
name: spermatogenic failure 38
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30686508/ "DO"]
synonym: "MALE INFERTILITY WITH TERATOZOOSPERMIA DUE TO SINGLE GENE MUTATION" BROAD []
synonym: "SPERM TAIL ANOMALY" BROAD []
synonym: "SPGF38" EXACT []
xref: MIM:618433
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0111920
name: spermatogenic failure 25
def: "A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26199321/ "DO"]
synonym: "SPGF25" EXACT []
xref: MIM:617960
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: slaulede
creation_date: 2019-03-19T15:24:54Z

[Term]
id: DOID:0111921
name: spermatogenic failure 36
def: "A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the PPP2R3C gene on chromosome 14q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30893644/ "DO"]
synonym: "SPGF36" EXACT []
xref: MIM:618420
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0111922
name: spermatogenic failure 31
def: "A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30032984/ "DO"]
synonym: "CYBA Deficiency" EXACT []
synonym: "SPGF31" EXACT []
xref: MIM:618112
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa
created_by: rgd
creation_date: 2017-03-28T00:00:00Z

[Term]
id: DOID:0111923
name: spermatogenic failure 42
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31735292/ "DO", https://pubmed.ncbi.nlm.nih.gov/31735294/ "DO"]
synonym: "SPGF42" EXACT []
xref: MIM:618745
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2019-09-03T14:40:00Z

[Term]
id: DOID:0111924
name: spermatogenic failure 26
def: "A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28905369/ "DO"]
synonym: "SPGF26" EXACT []
xref: MIM:617961
xref: MONDO:0054730
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa

[Term]
id: DOID:0111925
name: spermatogenic failure 32
def: "A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20506135/ "DO"]
synonym: "SPGF32" EXACT []
xref: MIM:618115
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0111926
name: spermatogenic failure 39
def: "A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31178125/ "DO"]
synonym: "SPGF39" EXACT []
xref: MIM:618643
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0111927
name: spermatogenic failure 37
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30929735/ "DO"]
synonym: "SPGF37" EXACT []
xref: MIM:618429
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0111928
name: spermatogenic failure 27
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29365104/ "DO"]
synonym: "SPGF27" EXACT []
xref: MIM:617965
xref: MONDO:0054731
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: rgd
creation_date: 2016-04-13T17:29:34Z

[Term]
id: DOID:0111929
name: spermatogenic failure 24
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29606301/ "DO"]
synonym: "SPGF24" EXACT []
xref: MIM:617959
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure

[Term]
id: DOID:0111930
name: spermatogenic failure 29
def: "A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28554943/ "DO"]
synonym: "SPGF29" EXACT []
xref: MIM:618091
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: slaulede
creation_date: 2018-09-14T00:00:00Z

[Term]
id: DOID:0111931
name: syndactyly-telecanthus-anogenital and renal malformations syndrome
alt_id: MIM:300707
def: "A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18297069/ "DO", https://pubmed.ncbi.nlm.nih.gov/8818947/ "DO"]
synonym: "STAR" EXACT []
synonym: "STAR Syndrome" EXACT []
synonym: "Syndactyly with Renal and Anogenital Malformations" EXACT []
synonym: "toe syndactyly, telecanthus, and anogenital and renal malformations" EXACT []
xref: GARD:10295
xref: MESH:C567475
xref: ORDO:140952
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9003133 ! Hypertelorism
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111932
name: severe congenital encephalopathy due to MECP2 mutation
alt_id: MIM:300673
def: "A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy "DO", https://pubmed.ncbi.nlm.nih.gov/12615169/ "DO"]
synonym: "MECP2-related severe neonatal encephalopathy" EXACT []
synonym: "neonatal severe encephalopathy" EXACT []
synonym: "neonatal severe encephalopathy due to MECP2 mutation" EXACT []
synonym: "neonatal severe encephalopathy due to MECP2 mutations" EXACT []
synonym: "severe neonatal-onset encephalopathy with microcephaly" EXACT []
xref: MESH:C566878
xref: NCI:C132293
xref: ORDO:209370
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders
created_by: rgd
creation_date: 2017-04-04T00:00:00Z

[Term]
id: DOID:0111933
name: phosphoglycerate kinase 1 deficiency
alt_id: MIM:300653
def: "A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. (DO)" [https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency "DO", https://pubmed.ncbi.nlm.nih.gov/16567715/ "DO", https://pubmed.ncbi.nlm.nih.gov/4230542/ "DO"]
synonym: "glycogenosis due to phosphoglycerate kinase 1 deficiency" EXACT []
synonym: "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" EXACT []
synonym: "GSD due to phosphoglycerate kinase 1 deficiency" EXACT []
synonym: "PGK1 Deficiency" EXACT []
synonym: "PGK1-RELATED CONDITION" EXACT []
synonym: "PGK1-RELATED DISORDER" EXACT []
synonym: "PGK Deficiency" EXACT []
synonym: "phosphoglycerate kinase deficiency" EXACT []
xref: GARD:7389
xref: MESH:C567067
xref: NCI:C126738
xref: ORDO:713
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:4194 ! glucose metabolism disease
is_a: DOID:655 ! inherited metabolic disorder
created_by: gthayman
creation_date: 2019-05-29T11:57:07Z

[Term]
id: DOID:0111934
name: immunodeficiency 38
def: "A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22859821/ "DO", https://pubmed.ncbi.nlm.nih.gov/25307056/ "DO"]
synonym: "autosomal recessive ISG15 deficiency" EXACT []
synonym: "IMD38" EXACT []
synonym: "immunodeficiency 38, mycobacteriosis, autosomal recessive" EXACT []
synonym: "immunodeficiency 38 with basal ganglia calcification" EXACT []
synonym: "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency" EXACT []
xref: MIM:616126
xref: ORDO:319563
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060230 ! basal ganglia calcification
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111935
name: immunodeficiency 16
def: "A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20156905/ "DO", https://pubmed.ncbi.nlm.nih.gov/23897980/ "DO"]
synonym: "combined immunodeficiency due to OX40 deficiency" EXACT []
synonym: "combined immunodeficiency with childhood-onset Kaposi sarcoma" EXACT []
synonym: "combined immunodeficiency with impaired immunity to HHV-8" EXACT []
synonym: "combined immunodeficiency with impaired immunity to human herpes virus 8" EXACT []
synonym: "IMD16" EXACT []
synonym: "OX40 deficiency" EXACT []
xref: MIM:615593
xref: ORDO:431149
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111936
name: immunodeficiency 14
alt_id: MIM:615513
alt_id: MIM:619281
def: "A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. (DO)" [https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/24165795/ "DO"]
synonym: "activated PI3K-delta syndrome" EXACT []
synonym: "APDS" EXACT []
synonym: "APDS (Activated PI3K-delta Syndrome)" EXACT []
synonym: "APD Syndrome" EXACT []
synonym: "autosomal dominant immunodeficiency 14A" NARROW []
synonym: "autosomal dominant immunodeficiency-14A with lymphoproliferation" NARROW []
synonym: "autosomal recessive immunodeficiency 14B" NARROW []
synonym: "IMD14" EXACT []
synonym: "IMD14A" NARROW []
synonym: "IMD14B" NARROW []
synonym: "p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency" EXACT []
synonym: "PASLI" EXACT []
synonym: "PASLI disease" EXACT []
synonym: "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation" EXACT []
xref: GARD:11983
xref: MESH:C585640
xref: NCI:C187988
xref: ORDO:397596
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111937
name: immunodeficiency 22
def: "A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9664084/ "DO"]
synonym: "IMD22" EXACT []
synonym: "SCID due to LCK deficiency" EXACT []
synonym: "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT []
synonym: "severe combined immunodeficiency due to LCK deficiency" EXACT []
synonym: "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT []
xref: MIM:615758
xref: MONDO:0014334
xref: NCI:C176808
xref: ORDO:280142
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:627 ! severe combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111938
name: immunodeficiency 24
def: "A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24870241/ "DO"]
synonym: "IMD24" EXACT []
synonym: "SCID due to CTPS1 deficiency" EXACT []
synonym: "severe combined immunodeficiency due to CTPS1 deficiency" EXACT []
xref: MIM:615897
xref: ORDO:420573
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:627 ! severe combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111939
name: immunodeficiency 37
def: "A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25365219/ "DO"]
synonym: "IMD37" EXACT []
xref: MIM:616098
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111940
name: immunodeficiency 42
def: "A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26160376/ "DO"]
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency" EXACT []
synonym: "autosomal recessive MSMD due to complete RORgamma receptor defiency" EXACT []
synonym: "autosomal recessive primary immunodeficiency due to RORC mutation" EXACT []
synonym: "IMD42" EXACT []
xref: MIM:616622
xref: ORDO:477857
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111941
name: immunodeficiency 20
def: "A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23006327/ "DO"]
synonym: "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity" EXACT []
synonym: "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity" EXACT []
synonym: "CD16 deficiency" EXACT []
synonym: "IMD20" EXACT []
xref: MIM:615707
xref: ORDO:437552
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111942
name: immunodeficiency 25
alt_id: MIM:610163
def: "A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16672702/ "DO"]
synonym: "IMD25" EXACT []
synonym: "immunodeficiency due to defect in CD3-zeta" EXACT []
xref: MESH:C565712
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11200 ! T cell deficiency
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111943
name: immunodeficiency 48
alt_id: MIM:269840
def: "A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2511270/ "DO"]
synonym: "combined immunodeficiency due to ZAP70 deficiency" EXACT []
synonym: "IMD48" EXACT []
synonym: "selective T-cell defect" EXACT []
synonym: "STCD" EXACT []
synonym: "ZAP70-related SCID" EXACT []
synonym: "ZAP70-related severe combined immunodeficiency" EXACT []
synonym: "zeta-associated-protein 70 deficiency" EXACT []
xref: GARD:387
xref: MESH:C536722
xref: ORDO:911
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11200 ! T cell deficiency
is_a: DOID:627 ! severe combined immunodeficiency
created_by: mtutaj
creation_date: 2019-02-27T08:16:15Z

[Term]
id: DOID:0111944
name: immunodeficiency 31B
def: "A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12590259/ "DO", https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO"]
synonym: "IMD31B" EXACT []
synonym: "IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE" EXACT []
synonym: "MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE" RELATED []
synonym: "predisposition to severe viral infection due to STAT1 deficiency" EXACT []
synonym: "STAT1 deficiency, autosomal recessive" EXACT []
synonym: "susceptibility to viral and mycobacterial infections due to STAT1 deficiency" EXACT []
xref: MIM:613796
xref: ORDO:391311
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9001415 ! Mycobacterium Infections
is_a: DOID:934 ! viral infectious disease
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111945
name: immunodeficiency 31A
def: "A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11452125/ "DO", https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO"]
synonym: "IMD31A" EXACT []
synonym: "IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT" EXACT []
synonym: "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency" EXACT []
synonym: "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" EXACT []
synonym: "MSMD due to partial signal transducer and activator of transcription 1 deficiency" EXACT []
synonym: "MSMD due to partial STAT1 deficiency" EXACT []
synonym: "STAT1 deficiency, autosomal dominant" EXACT []
xref: MIM:614892
xref: ORDO:319595
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111946
name: immunodeficiency 31C
def: "A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21714643/ "DO", https://pubmed.ncbi.nlm.nih.gov/23534974/ "DO", https://pubmed.ncbi.nlm.nih.gov/23541320/ "DO"]
synonym: "autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome" EXACT []
synonym: "autosomal dominant immunodeficiency 31C" EXACT []
synonym: "CANDF7" EXACT []
synonym: "familial candidiasis 7" EXACT []
synonym: "familial chronic mucocutaneous candidiasis, autosomal dominant" BROAD []
synonym: "IMD31C" EXACT []
xref: MIM:614162
xref: NCI:C172099
xref: ORDO:391487
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2058 ! chronic mucocutaneous candidiasis
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111947
name: immunodeficiency 21
alt_id: MIM:614172
def: "A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21242295/ "DO", https://pubmed.ncbi.nlm.nih.gov/21670465/ "DO", https://pubmed.ncbi.nlm.nih.gov/24227816/ "DO"]
synonym: "COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS" EXACT []
synonym: "DCML" EXACT []
synonym: "dendritic cell, monocyte, B and NK lymphoid deficiency" EXACT []
synonym: "DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY" EXACT []
synonym: "GATA2 deficiency" EXACT []
synonym: "IMD21" EXACT []
synonym: "monocyte-B-natural killer-dendritic cell deficiency syndrome" EXACT []
synonym: "monocytopenia and mycobacterial infection syndrome" EXACT []
synonym: "monocytopenia with susceptibility to infections" EXACT []
synonym: "monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia" EXACT []
synonym: "MONOMAC" EXACT []
synonym: "monomac monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia" EXACT []
xref: GARD:10934
xref: MESH:D000077428
xref: NCI:C126349
xref: ORDO:228423
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111948
name: immunodeficiency 46
def: "A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26642240/ "DO"]
synonym: "CID due to TFRC deficiency" EXACT []
synonym: "combined immunodeficiency due to TFRC deficiency" EXACT []
synonym: "IMD46" EXACT []
synonym: "TFRC-related combined immunodeficiency" EXACT []
xref: MIM:616740
xref: ORDO:476113
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111949
name: immunodeficiency 36
def: "A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27221134/ "DO"]
synonym: "activated phosphoinositide 3-kinase delta syndrome 2" EXACT []
synonym: "IMD36" EXACT []
synonym: "immunodeficiency-36 with lymphoproliferation" EXACT []
xref: MIM:616005
xref: NCI:C176703
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: rgd
creation_date: 2018-01-17T14:46:50Z

[Term]
id: DOID:0111950
name: immunodeficiency 29
def: "A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO", https://pubmed.ncbi.nlm.nih.gov/9854038/ "DO"]
synonym: "IL12B deficiency" EXACT []
synonym: "IMD29" EXACT []
synonym: "immunodeficiency 29, mycobacteriosis" EXACT []
synonym: "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" EXACT []
synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" EXACT []
synonym: "MSMD due to complete IL12B deficiency" EXACT []
synonym: "MSMD due to complete interleukin 12B deficiency" EXACT []
xref: MIM:614890
xref: ORDO:319558
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111951
name: immunodeficiency 40
def: "A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26083206/ "DO"]
synonym: "DOCK2 deficiency" EXACT []
synonym: "IMD40" EXACT []
xref: GARD:12653
xref: MIM:616433
xref: NCI:C176799
xref: ORDO:447737
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111952
name: immunodeficiency 57
def: "A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30026316/ "DO"]
synonym: "IMD57" EXACT []
synonym: "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome" EXACT []
synonym: "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" EXACT []
synonym: "immunodeficiency 57 with autoinflammation" EXACT []
synonym: "RIPK1-RELATED CONDITION" BROAD []
xref: MIM:618108
xref: ORDO:529977
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111953
name: immunodeficiency 23
def: "A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14981714/ "DO", https://pubmed.ncbi.nlm.nih.gov/24589341/ "DO"]
synonym: "CID due to PGM3 deficiency" EXACT []
synonym: "combined immunodeficiency due to PGM3 deficiency" EXACT []
synonym: "IMD23" EXACT []
synonym: "Immunodeficiency-Vasculitis-Myoclonus Syndrome" EXACT []
synonym: "immunodeficiency with hyper IgE and cognitive impairment" EXACT []
synonym: "IVMS" EXACT []
synonym: "PGM3-CDG" EXACT []
synonym: "PGM3-related congenital disorder of glycosylation" EXACT []
xref: GARD:4331
xref: MIM:615816
xref: NCI:C126339
xref: ORDO:443811
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: slaulede
creation_date: 2018-08-17T13:59:10Z

[Term]
id: DOID:0111954
name: immunodeficiency 60
def: "A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28530713/ "DO"]
synonym: "BACH2-RELATED CONDITION" NARROW []
synonym: "BRIDA" EXACT []
synonym: "IMD60" EXACT []
synonym: "immunodeficiency 60 and autoimmunity" EXACT []
synonym: "immunodeficiency and autoimmunity, BACH2-related" EXACT []
xref: MIM:618394
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111955
name: immunodeficiency 27A
def: "A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO", https://pubmed.ncbi.nlm.nih.gov/8960473/ "DO", https://pubmed.ncbi.nlm.nih.gov/8960475/ "DO"]
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT []
synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT []
synonym: "autosomal recessive MSMD due to partial IFNgammaR1 deficiency" EXACT []
synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency" EXACT []
synonym: "IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE" EXACT []
synonym: "IMD27A" EXACT []
synonym: "immunodeficiency 27A, mycobacteriosis, autosomal recessive" EXACT []
xref: MIM:209950
xref: ORDO:319569
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111956
name: immunodeficiency 27B
def: "A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10192386/ "DO", https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO"]
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT []
synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT []
synonym: "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" EXACT []
synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" EXACT []
synonym: "IFNGR1 DEFICIENCY, AUTOSOMAL DOMINANT" EXACT []
synonym: "IMD27B" EXACT []
synonym: "immunodeficiency 27B, mycobacteriosis, autosomal dominant" EXACT []
xref: MIM:615978
xref: ORDO:319581
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111957
name: immunodeficiency 11A
def: "A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23374270/ "DO", https://pubmed.ncbi.nlm.nih.gov/23561803/ "DO"]
synonym: "CARD11 deficiency" EXACT []
synonym: "CARD11 Immunodeficiency" EXACT []
synonym: "IMD11" EXACT []
synonym: "IMD11A" EXACT []
synonym: "immunodeficiency 11" EXACT []
synonym: "SCID due to CARD11 deficiency" EXACT []
synonym: "severe combined immunodeficiency due to CARD11 deficiency" EXACT []
xref: MIM:615206
xref: ORDO:357237
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:627 ! severe combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111958
name: immunodeficiency 11B
def: "A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28628108/ "DO"]
synonym: "atopic dermatitis, elevated IgE, and eosinophilia" EXACT []
synonym: "IMD11B" EXACT []
synonym: "immunodeficiency 11B with atopic dermatitis" EXACT []
xref: MIM:617638
xref: NCI:C176630
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11200 ! T cell deficiency
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111959
name: immunodeficiency 15B
def: "A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24369075/ "DO"]
synonym: "IMD15B" EXACT []
xref: MIM:615592
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:627 ! severe combined immunodeficiency
is_a: DOID:9008991 ! IMMUNODEFICIENCY 15
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111960
name: immunodeficiency 15A
def: "A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30337470/ "DO"]
synonym: "IMD15A" EXACT []
xref: MIM:618204
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
is_a: DOID:9008991 ! IMMUNODEFICIENCY 15
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111961
name: immunodeficiency 26
def: "A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19075392/ "DO", https://pubmed.ncbi.nlm.nih.gov/23722905/ "DO"]
synonym: "IMD26" EXACT []
synonym: "immunodeficiency 26 with or without neurologic abnormalities" EXACT []
synonym: "immunodeficiency 26 without neurologic abnormalities" NARROW []
synonym: "SCID due to DNA-PKcs deficiency" EXACT []
synonym: "severe combined immunodeficiency due to DNA-PKcs deficiency" EXACT []
xref: MIM:615966
xref: NCI:C176795
xref: ORDO:317425
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:627 ! severe combined immunodeficiency
is_a: DOID:9003814 ! Neurologic Manifestations
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111962
name: combined immunodeficiency
def: "A primary immunodeficiency disease that involves multiple components of the immune system. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32048120/ "DO"]
synonym: "MAN2B2-RELATED DISORDER" NARROW []
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111963
name: dendritic cell deficiency
def: "A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK27092/ "DO"]
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111964
name: B cell and dendritic cell deficiency
def: "A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK27092/ "DO"]
is_a: DOID:0111962 ! combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0111965
name: T cell, B cell, and NK cell deficiency
def: "A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK27092/ "DO"]
is_a: DOID:0111962 ! combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111966
name: monocyte, dendritic cell, and NK cell deficiency
def: "A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK27092/ "DO"]
is_a: DOID:0111962 ! combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111967
name: immunodeficiency 54
def: "An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16532402/ "DO", https://pubmed.ncbi.nlm.nih.gov/22354167/ "DO"]
synonym: "familial isolated natural killer cell deficiency" EXACT []
synonym: "IMD54" EXACT []
synonym: "MCM4-RELATED CONDITION" EXACT []
synonym: "Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect" EXACT []
synonym: "NKCD" EXACT []
synonym: "NKGCD" EXACT []
synonym: "primary immunodeficiency due to MCM4 deficiency" EXACT []
synonym: "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" EXACT []
xref: MESH:C566492
xref: MIM:609981
xref: NCI:C123729
xref: ORDO:75391
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080709 ! NK cell deficiency
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111968
name: immunodeficiency 41
alt_id: MIM:606367
def: "A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23416241/ "DO", https://pubmed.ncbi.nlm.nih.gov/9096364/ "DO"]
synonym: "CD25 Deficiency" EXACT []
synonym: "deficiency of interleukin 2 receptor, alpha" EXACT []
synonym: "IL2RA Deficiency" EXACT []
synonym: "IMD41" EXACT []
synonym: "IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY" EXACT []
synonym: "immunodeficiency due to CD25 deficiency" EXACT []
synonym: "interleukin-2 receptor alpha chain deficiency" EXACT []
xref: MESH:C565232
xref: ORDO:169100
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111962 ! combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111969
name: immunodeficiency 39
def: "A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25814066/ "DO"]
synonym: "IMD39" EXACT []
synonym: "IRF7-RELATED CONDITION" EXACT []
xref: MIM:616345
xref: MONDO:0014597
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111970
name: immunodeficiency 10
alt_id: MIM:612783
def: "A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26560041/ "DO"]
synonym: "CID due to STIM1 deficiency" EXACT []
synonym: "combined immunodeficiency due to STIM1 deficiency" EXACT []
synonym: "IMD10" EXACT []
synonym: "Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2" EXACT []
synonym: "STIM1 deficiency" EXACT []
xref: MESH:C557827
xref: ORDO:317430
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080710 ! T cell and NK cell immunodeficiency
is_a: DOID:627 ! severe combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111971
name: immunodeficiency 18
alt_id: MIM:615615
def: "A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15546002/ "DO", https://pubmed.ncbi.nlm.nih.gov/8490660/ "DO"]
synonym: "CD3-epsilon deficiency" EXACT []
synonym: "IMD18" EXACT []
synonym: "immunodeficiency 18, SCID variant" RELATED []
synonym: "immunodeficiency 18, severe combined" RELATED []
synonym: "immunodeficiency due to defect in CD3-Epsilon" EXACT []
synonym: "immunodeficiency variant" RELATED []
xref: MESH:C566082
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111972
name: immunodeficiency 19
def: "A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14602880/ "DO", https://pubmed.ncbi.nlm.nih.gov/21883749/ "DO"]
synonym: "CD3-DELTA DEFICIENCY" EXACT []
synonym: "IMD19" EXACT []
synonym: "immunodeficiency 19, severe combined" EXACT []
synonym: "SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE" EXACT []
synonym: "severe combined immunodeficiency, T-cell-negative, B-cell-positive, NK-cell-positive" EXACT []
xref: MIM:615617
xref: MONDO:0014280
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:627 ! severe combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111973
name: immunodeficiency 17
alt_id: MIM:615607
def: "A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1635567/ "DO", https://pubmed.ncbi.nlm.nih.gov/17277165/ "DO", https://pubmed.ncbi.nlm.nih.gov/8325321/ "DO"]
synonym: "CD3-Gamma Deficiency" EXACT []
synonym: "CD3 Gamma Deficient" EXACT []
synonym: "IMD17" EXACT []
synonym: "immunodeficiency 17, CD3 gamma deficient" EXACT []
synonym: "Immunodeficiency due to Defect in CD3-Gamma" EXACT []
synonym: "SCID-like immunodeficiency, T-cell-partial, B-cell-positive, NK-cell-positive" EXACT []
xref: MESH:C566083
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11200 ! T cell deficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111974
name: immunodeficiency 59
alt_id: MIM:233600
def: "A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27913302/ "DO"]
synonym: "granulocytopenia with immunoglobin abnormality" EXACT []
synonym: "granulocytopenia with immunoglobulin abnormality" EXACT []
synonym: "HYOU1-RELATED CONDITION" EXACT []
synonym: "IMD59" EXACT []
synonym: "immunodeficiency 59 and hypoglycemia" EXACT []
xref: MESH:C565535
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111964 ! B cell and dendritic cell deficiency
is_a: DOID:12987 ! agranulocytosis
is_a: DOID:2583 ! agammaglobulinemia
created_by: rgd
creation_date: 2017-08-08T00:00:00Z

[Term]
id: DOID:0111975
name: immunodeficiency 44
def: "A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23391734/ "DO", https://pubmed.ncbi.nlm.nih.gov/26122121/ "DO"]
synonym: "IMD44" EXACT []
xref: MIM:616636
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111976
name: immunodeficiency 9
alt_id: MIM:612782
def: "A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16582901/ "DO", https://pubmed.ncbi.nlm.nih.gov/20004786/ "DO"]
synonym: "CID due to ORAI1 deficiency" EXACT []
synonym: "combined immunodeficiency due to ORAI1 deficiency" EXACT []
synonym: "IMD9" EXACT []
synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 1" EXACT []
synonym: "ORAI1-RELATED CONDITION" BROAD []
xref: MESH:C557826
xref: ORDO:317428
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11200 ! T cell deficiency
is_a: DOID:627 ! severe combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111977
name: immunodeficiency 7
def: "A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21206088/ "DO"]
synonym: "IMD7" EXACT []
synonym: "immunodeficiency 7, TCR-alpha/beta deficient" EXACT []
synonym: "T-Cell Receptor-Alpha/Beta Deficiency" EXACT []
synonym: "TCR-alpha/beta deficiency" EXACT []
synonym: "TCR-alpha-beta-positive T-cell deficiency" EXACT []
xref: MIM:615387
xref: ORDO:397959
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11200 ! T cell deficiency
is_a: DOID:9500 ! leukocyte disease
created_by: rgd
creation_date: 2017-12-06T00:00:00Z

[Term]
id: DOID:0111978
name: immunodeficiency 65
def: "A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30143481/ "DO", https://pubmed.ncbi.nlm.nih.gov/30826365/ "DO"]
synonym: "IMD65" EXACT []
synonym: "immunodeficiency 65, susceptibility to viral infections" EXACT []
xref: MIM:618648
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2019-03-20T08:37:01Z

[Term]
id: DOID:0111979
name: immunodeficiency 49
def: "A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27959755/ "DO", https://pubmed.ncbi.nlm.nih.gov/29985992/ "DO"]
synonym: "BCL11B-RELATED BAFOPATHY" BROAD []
synonym: "IMD49" EXACT []
synonym: "immunodeficiency 49, severe combined" EXACT []
synonym: "SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES" EXACT []
synonym: "severe combined immunodeficiency, T-cell-negative, B-cell-positive, NK-cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities" EXACT []
xref: MIM:617237
xref: MONDO:0014981
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11200 ! T cell deficiency
is_a: DOID:627 ! severe combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111980
name: immunodeficiency 64
def: "A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27776107/ "DO", https://pubmed.ncbi.nlm.nih.gov/29155103/ "DO", https://pubmed.ncbi.nlm.nih.gov/29282224/ "DO"]
synonym: "IMD64" EXACT []
synonym: "immunodeficiency-64 with lymphoproliferation" EXACT []
xref: MIM:618534
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111965 ! T cell, B cell, and NK cell deficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111981
name: immunodeficiency 43
alt_id: MIM:241600
def: "A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16549777/ "DO", https://pubmed.ncbi.nlm.nih.gov/25702838/ "DO"]
synonym: "B2M deficiency" EXACT []
synonym: "BETA-2-MICROGLOBULIN DEFICIENCY" EXACT []
synonym: "hypercatabolic hypoproteinemia" EXACT []
synonym: "IMD43" EXACT []
xref: MESH:C565476
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:655 ! inherited metabolic disorder
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111982
name: immunodeficiency 56
def: "A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23440042/ "DO"]
synonym: "combined immunodeficiency due to IL21R deficiency" EXACT []
synonym: "IL21R immunodeficiency" EXACT []
synonym: "IMD56" EXACT []
xref: MIM:615207
xref: ORDO:357329
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111983
name: immunodeficiency 52
def: "A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27242165/ "DO", https://pubmed.ncbi.nlm.nih.gov/27522155/ "DO"]
synonym: "IMD52" EXACT []
synonym: "severe combined immunodeficiency due to LAT deficiency" EXACT []
xref: MIM:617514
xref: ORDO:504523
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11200 ! T cell deficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111984
name: immunodeficiency 58
def: "A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27647349/ "DO", https://pubmed.ncbi.nlm.nih.gov/29479355/ "DO"]
synonym: "CARMIL2-RELATED CONDITION" EXACT []
synonym: "IMD58" EXACT []
synonym: "severe combined immunodeficiency due to CARMIL2 deficiency" EXACT []
xref: MIM:618131
xref: ORDO:542301
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111985
name: immunodeficiency 32B
def: "A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27893462/ "DO", https://pubmed.ncbi.nlm.nih.gov/6279813/ "DO"]
synonym: "IMD32B" EXACT []
synonym: "IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE" EXACT []
synonym: "IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE" EXACT []
synonym: "monocyte and dendritic cell deficiency, autosomal recessive" EXACT []
xref: MIM:226990
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111966 ! monocyte, dendritic cell, and NK cell deficiency
is_a: DOID:9500 ! leukocyte disease
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111986
name: immunodeficiency 32A
def: "A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21524210/ "DO"]
synonym: "CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL DOMINANT" EXACT []
synonym: "IMD32A" EXACT []
synonym: "IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT" EXACT []
synonym: "IRF8 deficiency, autosomal dominant" EXACT []
synonym: "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" EXACT []
synonym: "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency" EXACT []
synonym: "MSMD due to partial interferon regulatory factor 8 deficiency" EXACT []
synonym: "MSMD due to partial IRF8 deficiency" EXACT []
xref: MIM:614893
xref: MONDO:0013957
xref: ORDO:319600
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111963 ! dendritic cell deficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111987
name: immunodeficiency 13
def: "A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22184408/ "DO"]
synonym: "IMD13" EXACT []
synonym: "UNC119-RELATED CONDITION" BROAD []
xref: GARD:12375
xref: MIM:615518
xref: ORDO:228000
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:11200 ! T cell deficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111988
name: immunodeficiency 12
def: "A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23727036/ "DO", https://pubmed.ncbi.nlm.nih.gov/24332264/ "DO"]
synonym: "combined immunodeficiency due to MALT1 deficiency" EXACT []
synonym: "IMD12" EXACT []
xref: MIM:615468
xref: ORDO:397964
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111962 ! combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111989
name: immunodeficiency 35
alt_id: MIM:611521
def: "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26304966/ "DO"]
synonym: "autosomal recessive HIES with atypical mycobacteriosis" EXACT []
synonym: "autosomal recessiv HIES with atypical mycobacteriosis" EXACT []
synonym: "Hyper-IgE Syndrome with Atypical Mycobacteriosis, Autosomal Recessive" EXACT []
synonym: "IMD35" EXACT []
synonym: "susceptibility to infection due to TYK2 deficiency" EXACT []
synonym: "TYK2 Deficiency" EXACT []
synonym: "tyrosine kinase 2 deficiency" EXACT []
xref: MESH:C566928
xref: ORDO:331226
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080545 ! hyper IgE syndrome
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111990
name: immunodeficiency 30
def: "A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO", https://pubmed.ncbi.nlm.nih.gov/9603732/ "DO", https://pubmed.ncbi.nlm.nih.gov/9603733/ "DO"]
synonym: "IL12RB1 Deficiency" EXACT []
synonym: "IMD30" EXACT []
synonym: "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency" EXACT []
synonym: "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" EXACT []
synonym: "MSMD due to complete IL12RB1 deficiency" EXACT []
synonym: "MSMD due to complete interleukin 12 receptor beta 1 deficiency" EXACT []
xref: MIM:614891
xref: NCI:C176800
xref: ORDO:319552
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080710 ! T cell and NK cell immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111991
name: immunodeficiency 62
def: "A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30521495/ "DO"]
synonym: "IMD62" EXACT []
xref: MIM:618459
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2115 ! B cell deficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111992
name: immunodeficiency 53
def: "A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26385063/ "DO"]
synonym: "IMD53" EXACT []
synonym: "RELB-RELATED CONDITION" EXACT []
xref: MIM:617585
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0111993
name: immunodeficiency 55
def: "A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28414293/ "DO"]
synonym: "combined immunodeficiency due to GINS1 deficiency" EXACT []
synonym: "IMD55" EXACT []
xref: MIM:617827
xref: ORDO:505227
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111962 ! combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111994
name: immunodeficiency 45
def: "A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26424569/ "DO"]
synonym: "IMD45" EXACT []
xref: MIM:616669
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111995
name: immunodeficiency 28
def: "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11335769/ "DO", https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO"]
synonym: "IFNGR2 deficiency" EXACT []
synonym: "IMD28" EXACT []
synonym: "immunodeficiency 28, mycobacteriosis" EXACT []
synonym: "immunodeficiency 28, mycobacteriosis, autosomal recessive" EXACT []
synonym: "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" EXACT []
synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" EXACT []
synonym: "MSMD due to complete IFNgammaR2 deficiency" EXACT []
synonym: "MSMD due to complete interferon gamma receptor 2 deficiency" EXACT []
xref: MIM:614889
xref: ORDO:319547
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111996
name: immunodeficiency 51
def: "A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27930337/ "DO"]
synonym: "CANDF5" EXACT []
synonym: "familial candidiasis 5" EXACT []
synonym: "IMD51" EXACT []
xref: MIM:613953
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2058 ! chronic mucocutaneous candidiasis
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111997
name: immunodeficiency 63
def: "A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31040184/ "DO", https://pubmed.ncbi.nlm.nih.gov/31040185/ "DO"]
synonym: "CD122 deficiency" EXACT []
synonym: "IL2RB deficiency" EXACT []
synonym: "IL2RB-RELATED CONDITION" EXACT []
synonym: "IMD63" EXACT []
synonym: "Immunodeficiency 63 with Lymphoproliferation and Autoimmunity" EXACT []
synonym: "interleukin 2 receptor, beta, deficiency of" EXACT []
xref: MIM:618495
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080710 ! T cell and NK cell immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111998
name: immunodeficiency 66
def: "A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26224645/ "DO"]
synonym: "IMD66" EXACT []
xref: MIM:618847
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0111999
name: immunodeficiency 61
alt_id: MIM:300310
def: "A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29636373/ "DO"]
synonym: "AGMX2" EXACT []
synonym: "IMD61" EXACT []
synonym: "XLA2" EXACT []
synonym: "X-linked agammaglobulinemia type 2" EXACT []
xref: MESH:C538057
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:14179 ! X-linked agammaglobulinemia
is_a: DOID:2115 ! B cell deficiency
created_by: gthayman
creation_date: 2019-04-17T11:33:21Z

[Term]
id: DOID:0112000
name: immunodeficiency 34
alt_id: MIM:300645
def: "A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17293536/ "DO", https://pubmed.ncbi.nlm.nih.gov/21278736/ "DO"]
synonym: "AMCBX2" EXACT []
synonym: "Atypical Mycobacterial Infection, Disseminated, X-Linked 2" EXACT []
synonym: "Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 2" EXACT []
synonym: "IMD34" EXACT []
synonym: "X-linked familial atypical mycobacteriosis 2" EXACT []
synonym: "X-linked immunodeficiency 34, mycobacteriosis" EXACT []
synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency" EXACT []
synonym: "X-linked MSMD due to CYBB deficiency" EXACT []
xref: MESH:C567068
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:3262 ! phagocyte bactericidal dysfunction
is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0112001
name: immunodeficiency 50
def: "A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27405666/ "DO"]
synonym: "CID due to Moesin deficiency" EXACT []
synonym: "combined immunodeficiency due to Moesin deficiency" EXACT []
synonym: "IMD50" EXACT []
synonym: "immunodeficiency 50, X-linked recessive" EXACT []
synonym: "MSN-related combined immunodeficiency" EXACT []
synonym: "X-linked Moesin-associated immunodeficiency" EXACT []
xref: MIM:300988
xref: ORDO:504530
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0111962 ! combined immunodeficiency
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0112002
name: immunodeficiency 47
def: "A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27231034/ "DO"]
synonym: "CDG2S" EXACT []
synonym: "CDG IIs" EXACT []
synonym: "CDGIIs" EXACT []
synonym: "congenital disorder of glycosylation, type IIs" EXACT []
synonym: "IMD47" EXACT []
synonym: "immunodeficiency and hepatopathy with or without neurologic features" EXACT []
xref: MIM:300972
xref: MONDO:0010504
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: rgd
creation_date: 2018-01-17T15:00:22Z

[Term]
id: DOID:0112003
name: immunodeficiency 33
alt_id: MESH:C536289
alt_id: MESH:C564468
alt_id: MESH:C567070
def: "A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15356572/ "DO", https://pubmed.ncbi.nlm.nih.gov/31965418/ "DO"]
synonym: "AMCBX1" EXACT []
synonym: "Atypical Mycobacterial Infection, Disseminated, X-Linked 1" EXACT []
synonym: "Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 1" EXACT []
synonym: "Atypical Mycobacteriosis, Familial, X-Linked 1" EXACT []
synonym: "IMD33" EXACT []
synonym: "IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED" EXACT []
synonym: "Immunodeficiency without Anhidrotic Ectodermal Dysplasia" EXACT []
synonym: "IPD2" EXACT []
synonym: "isolated immunodeficiency" EXACT []
synonym: "pure immunodeficiency" EXACT []
synonym: "recurrent isolated invasive pneumococcal disease 2" EXACT []
synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" EXACT []
synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency" EXACT []
synonym: "X-linked MSMD due to IKBKG deficiency" EXACT []
synonym: "X-linked MSMD due to NEMO deficiency" EXACT []
synonym: "X-linked mycobacterial disease, susceptibility to, 1" EXACT []
xref: MIM:300636
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0111962 ! combined immunodeficiency
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0112004
name: immunodeficiency 71
def: "A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30254128/ "DO"]
synonym: "ARPC1B-RELATED CONDITION" EXACT []
synonym: "IMD71" EXACT []
synonym: "immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia" EXACT []
synonym: "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" EXACT []
synonym: "PLTEID" EXACT []
xref: MIM:617718
xref: MONDO:0060583
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111962 ! combined immunodeficiency
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9001371 ! Eosinophilia
is_a: DOID:9005372 ! Inflammation
created_by: mtutaj
creation_date: 2020-08-22T00:00:00Z

[Term]
id: DOID:0112005
name: immunodeficiency 70
def: "A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32499645/ "DO"]
synonym: "IMD70" EXACT []
xref: MIM:618969
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
created_by: mtutaj
creation_date: 2020-08-23T00:00:00Z

[Term]
id: DOID:0112006
name: immunodeficiency 69
def: "A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32163377/ "DO"]
synonym: "IFNG deficiency, autosomal recessive" EXACT []
synonym: "IMD69" EXACT []
synonym: "immunodeficiency 69, mycobacteriosis" EXACT []
synonym: "immunodeficiency 69, mycobacteriosis, autosomal recessive" EXACT []
xref: MIM:618963
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080710 ! T cell and NK cell immunodeficiency
is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections
created_by: mtutaj
creation_date: 2020-08-23T00:00:00Z

[Term]
id: DOID:0112007
name: growth hormone secreting pituitary adenoma 2
def: "A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25470569/ "DO", https://pubmed.ncbi.nlm.nih.gov/25806920/ "DO"]
synonym: "ACROMEGALY DUE TO PITUITARY ADENOMA 2" EXACT []
synonym: "GH-secreting pituitary adenoma 2" EXACT []
synonym: "PAGH2" EXACT []
synonym: "PITA2" EXACT []
synonym: "X-linked acromegaly" EXACT []
xref: MIM:300943
is_a: DOID:6255 ! growth hormone secreting pituitary adenoma
created_by: mtutaj
creation_date: 2020-08-23T00:00:00Z

[Term]
id: DOID:0112008
name: pituitary adenoma 5
def: "A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28413019/ "DO"]
synonym: "PITA5" EXACT []
synonym: "pituitary adenoma 5, multiple types" EXACT []
xref: MIM:617540
is_a: DOID:3829 ! pituitary adenoma
created_by: mtutaj
creation_date: 2020-08-23T00:00:00Z

[Term]
id: DOID:0112009
name: pituitary adenoma 1
def: "A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16728643/ "DO", https://pubmed.ncbi.nlm.nih.gov/17360484/ "DO"]
synonym: "PITA1" EXACT []
synonym: "pituitary adenoma 1, multiple types" EXACT []
synonym: "PITUITARY ADENOMA PREDISPOSITION" RELATED []
xref: MIM:102200
is_a: DOID:3829 ! pituitary adenoma
created_by: mtutaj
creation_date: 2020-08-23T00:00:00Z

[Term]
id: DOID:0112010
name: pituitary adenoma 3
def: "A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28766057/ "DO", https://pubmed.ncbi.nlm.nih.gov/9589663/ "DO"]
synonym: "PITA3" EXACT []
synonym: "pituitary adenoma 3, multiple types" EXACT []
synonym: "pituitary adenoma 3, multiple types, somatic" NARROW []
xref: MIM:617686
xref: MONDO:0054665
is_a: DOID:3829 ! pituitary adenoma
created_by: mtutaj
creation_date: 2020-08-23T00:00:00Z

[Term]
id: DOID:0112011
name: mutilating palmoplantar keratoderma with periorificial keratotic plaques
def: "A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16227106/ "DO", https://pubmed.ncbi.nlm.nih.gov/17367233/ "DO", https://pubmed.ncbi.nlm.nih.gov/22405088/ "DO"]
synonym: "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" EXACT []
synonym: "OLMS" EXACT []
synonym: "Olmsted syndrome" EXACT []
synonym: "palmoplantar and periorificial keratoderma" EXACT []
xref: GARD:4075
xref: MIM:PS614594
xref: ORDO:659
is_a: DOID:3390 ! palmoplantar keratosis
created_by: mtutaj
creation_date: 2020-08-23T00:00:00Z

[Term]
id: DOID:0112012
name: X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
def: "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17367233/ "DO", https://pubmed.ncbi.nlm.nih.gov/24313295/ "DO"]
synonym: "OLMSX" EXACT []
synonym: "PPKMX" EXACT []
synonym: "X-linked Olmsted syndrome" EXACT []
xref: MIM:300918
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0112011 ! mutilating palmoplantar keratoderma with periorificial keratotic plaques
created_by: mtutaj
creation_date: 2020-08-23T00:00:00Z

[Term]
id: DOID:0112013
name: autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques
def: "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22405088/ "DO", https://pubmed.ncbi.nlm.nih.gov/24452206/ "DO"]
synonym: "autosomal dominant Olmsted syndrome" EXACT []
synonym: "mutilating palmoplantar keratoderma with periorificial keratotic plaques 1" EXACT []
synonym: "OLMS1" EXACT []
synonym: "Olmsted syndrome 1" EXACT []
synonym: "PPKM1" EXACT []
xref: MIM:614594
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112011 ! mutilating palmoplantar keratoderma with periorificial keratotic plaques
created_by: mtutaj
creation_date: 2020-08-23T00:00:00Z

[Term]
id: DOID:0112014
name: congenital megabladder
def: "A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31513549/ "DO"]
synonym: "MGBL" EXACT []
xref: EFO:0010655
xref: MIM:618719
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:365 ! bladder disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112015
name: immunodeficiency 72
def: "A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32647003/ "DO"]
synonym: "IMD72" EXACT []
synonym: "immunodeficiency 72 with autoinflammation" EXACT []
synonym: "immunodeficiency 72 with autoinflammation and lymphoproliferation" EXACT []
xref: MIM:618982
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111962 ! combined immunodeficiency
created_by: mtutaj
creation_date: 2019-03-27T09:05:18Z

[Term]
id: DOID:0112016
name: non-syndromic X-linked intellectual disability 2
alt_id: MIM:300428
def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2602357/ "DO", https://pubmed.ncbi.nlm.nih.gov/6839531/ "DO"]
synonym: "MRX2" EXACT []
synonym: "XLID2" EXACT []
synonym: "X-linked intellectual developmental disorder 2" EXACT []
synonym: "X-linked mental retardation 2" EXACT []
xref: MESH:C563135
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080009 ! X-linked dominant disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112017
name: non-syndromic X-linked intellectual disability 73
alt_id: MIM:300355
def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11477616/ "DO"]
synonym: "MRX73" EXACT []
synonym: "XLID73" EXACT []
synonym: "X-linked intellectual developmental disorder 73" EXACT []
synonym: "X-linked mental retardation 73" EXACT []
xref: MESH:C564528
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112018
name: non-syndromic X-linked intellectual disability 104
def: "A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25644381/ "DO"]
synonym: "FRMPD4-RELATED CONDITION" EXACT []
synonym: "MRX104" EXACT []
synonym: "XLID104" EXACT []
synonym: "X-linked intellectual developmental disorder 104" EXACT []
synonym: "X-linked mental retardation 104" EXACT []
xref: MIM:300983
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: slaulede
creation_date: 2018-07-10T17:47:59Z

[Term]
id: DOID:0112019
name: non-syndromic X-linked intellectual disability 19
alt_id: MIM:300844
def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17100996/ "DO"]
synonym: "MRX19" EXACT []
synonym: "XLID19" EXACT []
synonym: "X-linked intellectual developmental disorder 19" EXACT []
synonym: "X-linked mental retardation 19" EXACT []
xref: MESH:C563141
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080009 ! X-linked dominant disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112020
name: non-syndromic X-linked intellectual disability 103
def: "A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24817631/ "DO", https://pubmed.ncbi.nlm.nih.gov/25644381/ "DO"]
synonym: "MRX103" EXACT []
synonym: "XLID103" EXACT []
synonym: "X-linked intellectual developmental disorder 103" EXACT []
synonym: "X-linked mental retardation 103" EXACT []
xref: MIM:300982
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112021
name: non-syndromic X-linked intellectual disability ARX-related
alt_id: MESH:C564502
alt_id: MIM:300419
def: "A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10398246/ "DO", https://pubmed.ncbi.nlm.nih.gov/17480217/ "DO"]
synonym: "ARX-related intellectual disability" EXACT []
synonym: "MRX29" EXACT []
synonym: "MRX32" EXACT []
synonym: "MRX33" EXACT []
synonym: "MRX38" EXACT []
synonym: "MRX43" EXACT []
synonym: "MRX52" EXACT []
synonym: "MRX54" EXACT []
synonym: "MRX76" EXACT []
synonym: "MRX87" EXACT []
synonym: "MRXARX" EXACT []
synonym: "XLID29" EXACT []
synonym: "X-linked intellectual developmental disorder 29" EXACT []
synonym: "X-linked mental retardation 29" EXACT []
synonym: "X-linked mental retardation 29 and others" EXACT []
synonym: "X-linked mental retardation 32" EXACT []
synonym: "X-linked mental retardation 33" EXACT []
synonym: "X-linked mental retardation 38" EXACT []
synonym: "X-linked mental retardation 43" EXACT []
synonym: "X-linked mental retardation 52" EXACT []
synonym: "X-linked mental retardation 54" EXACT []
synonym: "X-linked mental retardation 76" EXACT []
synonym: "X-linked mental retardation 87" EXACT []
synonym: "X-linked mental retardation with or without seizures, ARX-related" EXACT []
xref: GARD:5614
xref: MESH:C563150
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112022
name: non-syndromic X-linked intellectual disability 21
def: "A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18801879/ "DO"]
synonym: "IL1RAPL1-related condition" BROAD []
synonym: "IL1RAPL1-related disorder" BROAD []
synonym: "MRX21" EXACT []
synonym: "MRX34" EXACT []
synonym: "XLID21" EXACT []
synonym: "X-linked intellectual developmental disorder 21" EXACT []
synonym: "X-linked mental retardation 21" EXACT []
synonym: "X-linked mental retardation 21/34" EXACT []
synonym: "X-linked mental retardation 34" EXACT []
xref: MESH:C563148
xref: MIM:300143
xref: MONDO:0010256
xref: NCI:C179707
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112023
name: non-syndromic X-linked intellectual disability 20
alt_id: MIM:300047
def: "A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7573127/ "DO"]
synonym: "MRX20" EXACT []
synonym: "XLID20" EXACT []
synonym: "X-linked intellectual developmental disorder 20" EXACT []
synonym: "X-linked mental retardation 20" EXACT []
xref: MESH:C563142
xref: MONDO:0010231
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112024
name: non-syndromic X-linked intellectual disability 58
alt_id: MIM:300210
def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10449641/ "DO", https://pubmed.ncbi.nlm.nih.gov/12070254/ "DO"]
synonym: "MRX58" EXACT []
synonym: "XLID58" EXACT []
synonym: "X-linked intellectual developmental disorder 58" EXACT []
synonym: "X-linked mental retardation 58" EXACT []
xref: MESH:C564566
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112025
name: female-restricted syndromic X-linked intellectual disability 99
def: "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26833328/ "DO"]
synonym: "MRXS99F" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder 99, female-restricted" EXACT []
synonym: "syndromic X-linked mental retardation 99, female-restricted" EXACT []
synonym: "USP9X-RELATED CONDITION" BROAD []
synonym: "USP9X RELATED DISORDER" BROAD []
synonym: "USP9X-RELATED NEURODEVELOPMENTAL DISORDER" BROAD []
synonym: "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability" EXACT []
xref: GARD:13638
xref: MIM:300968
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080009 ! X-linked dominant disease
created_by: gthayman
creation_date: 2019-03-12T12:06:46Z

[Term]
id: DOID:0112026
name: non-syndromic X-linked intellectual disability 99
def: "A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24607389/ "DO"]
synonym: "MRX99" EXACT []
synonym: "USP9X-RELATED CONDITION" BROAD []
synonym: "USP9X RELATED DISORDER" BROAD []
synonym: "USP9X-RELATED NEURODEVELOPMENTAL DISORDER" BROAD []
synonym: "XLID99" EXACT []
synonym: "X-linked intellectual developmental disorder 99" EXACT []
synonym: "X-linked mental retardation 99" EXACT []
xref: MIM:300919
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112027
name: non-syndromic X-linked intellectual disability 14
alt_id: MIM:300062
def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8026106/ "DO"]
synonym: "MRX14" EXACT []
synonym: "XLID14" EXACT []
synonym: "X-linked intellectual developmental disorder 14" EXACT []
synonym: "X-linked mental retardation 14" EXACT []
synonym: "X-linked mental retardation, nonspecific, type 14" EXACT []
xref: GARD:8557
xref: MESH:C537454
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
created_by: mtutaj
creation_date: 2019-12-30T09:42:48Z

[Term]
id: DOID:0112028
name: non-syndromic X-linked intellectual disability 45
alt_id: MIM:300498
def: "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10398246/ "DO"]
synonym: "INTELLECTUAL DISABILITY, X-LINKED 45" EXACT []
synonym: "MRX45" EXACT []
synonym: "XLID45" EXACT []
synonym: "X-linked intellectual developmental disorder 45" EXACT []
synonym: "X-linked mental retardation 45" EXACT []
xref: MESH:C564503
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112029
name: non-syndromic X-linked intellectual disability 50
alt_id: MIM:300115
def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9415477/ "DO"]
synonym: "MRX50" EXACT []
synonym: "XLID50" EXACT []
synonym: "X-linked intellectual developmental disorder 50" EXACT []
synonym: "X-linked mental retardation 50" EXACT []
xref: MESH:C564713
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112030
name: non-syndromic X-linked intellectual disability 84
alt_id: MIM:300505
def: "A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15326629/ "DO"]
synonym: "MRX84" EXACT []
synonym: "XLID84" EXACT []
synonym: "X-linked intellectual developmental disorder 84" EXACT []
synonym: "X-linked mental retardation 84" EXACT []
xref: MESH:C564501
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112031
name: non-syndromic X-linked intellectual disability 89
alt_id: MIM:300848
def: "A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14628291/ "DO", https://pubmed.ncbi.nlm.nih.gov/23871722/ "DO"]
synonym: "MRX89" EXACT []
synonym: "XLID89" EXACT []
synonym: "X-linked intellectual developmental disorder 89" EXACT []
synonym: "X-linked mental retardation 89" EXACT []
xref: MESH:C564036
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080009 ! X-linked dominant disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112032
name: non-syndromic X-linked intellectual disability 92
alt_id: MIM:300851
def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16385466/ "DO", https://pubmed.ncbi.nlm.nih.gov/23871722/ "DO"]
synonym: "MRX92" EXACT []
synonym: "XLID92" EXACT []
synonym: "X-linked intellectual developmental disorder 92" EXACT []
synonym: "X-linked mental retardation 92" EXACT []
xref: MESH:C564483
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2019-03-27T10:37:08Z

[Term]
id: DOID:0112033
name: non-syndromic X-linked intellectual disability 81
alt_id: MIM:300433
def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12673650/ "DO"]
synonym: "MRX81" EXACT []
synonym: "XLID81" EXACT []
synonym: "X-linked intellectual developmental disorder 81" EXACT []
synonym: "X-linked mental retardation 81" EXACT []
xref: MESH:C564515
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112034
name: non-syndromic X-linked intellectual disability 9
alt_id: MIM:309549
def: "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10398246/ "DO", https://pubmed.ncbi.nlm.nih.gov/15162322/ "DO"]
synonym: "MRX44" EXACT []
synonym: "MRX9" EXACT []
synonym: "XLID9" EXACT []
synonym: "X-linked intellectual developmental disorder 9" EXACT []
synonym: "X-linked mental retardation 44" EXACT []
synonym: "X-linked mental retardation 9" EXACT []
xref: MESH:C563137
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: rgd
creation_date: 2017-03-13T00:00:00Z

[Term]
id: DOID:0112035
name: non-syndromic X-linked intellectual disability 96
def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19377476/ "DO"]
synonym: "MRX96" EXACT []
synonym: "XLID96" EXACT []
synonym: "X-linked intellectual developmental disorder 96" EXACT []
synonym: "X-linked mental retardation 96" EXACT []
xref: MIM:300802
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112036
name: non-syndromic X-linked intellectual disability 105
def: "A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25644381/ "DO"]
synonym: "MRX105" EXACT []
synonym: "XLID105" EXACT []
synonym: "X-linked intellectual developmental disorder 105" EXACT []
synonym: "X-linked mental retardation 105" EXACT []
xref: MIM:300984
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112037
name: chromosome Xp11.22 duplication syndrome
alt_id: MESH:C563140
alt_id: MESH:C563147
def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22840365/ "DO", https://pubmed.ncbi.nlm.nih.gov/7943039/ "DO"]
synonym: "HUWE1-RELATED DISORDER" BROAD []
synonym: "HUWE1-RELATED NEURODEVELOPMENTAL DISORDER" BROAD []
synonym: "MRX17" EXACT []
synonym: "MRX31" EXACT []
synonym: "X-linked mental retardation 17" EXACT []
synonym: "X-linked mental retardation 31" EXACT []
synonym: "Xp11.22 microduplication syndrome" EXACT []
xref: MIM:300705
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0060429 ! chromosomal duplication syndrome
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112038
name: non-syndromic X-linked intellectual disability 1
alt_id: MESH:C564489
alt_id: MIM:309530
def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20473311/ "DO", https://pubmed.ncbi.nlm.nih.gov/3177466/ "DO"]
synonym: "MRX" EXACT []
synonym: "MRX1" EXACT []
synonym: "MRX18" EXACT []
synonym: "MRX78" EXACT []
synonym: "XLID1" EXACT []
synonym: "X-linked intellectual developmental disorder 1" EXACT []
synonym: "X-linked mental retardation 1" EXACT []
synonym: "X-linked mental retardation 1/78" EXACT []
synonym: "X-linked mental retardation 18" EXACT []
synonym: "X-linked mental retardation 78" EXACT []
xref: GARD:13221
xref: MESH:C567906
xref: NCI:C133729
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080009 ! X-linked dominant disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112039
name: non-syndromic X-linked intellectual disability 77
alt_id: MIM:300454
def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12949971/ "DO"]
synonym: "MRX77" EXACT []
synonym: "XLID77" EXACT []
synonym: "X-linked intellectual developmental disorder 77" EXACT []
synonym: "X-linked mental retardation 77" EXACT []
xref: MESH:C564511
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112040
name: non-syndromic X-linked intellectual disability 100
def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24812067/ "DO"]
synonym: "INTELLECTUAL DISABILITY, X-LINKED 100" EXACT []
synonym: "KIF4A-RELATED CONDITION" BROAD []
synonym: "MRX100" EXACT []
synonym: "XLID100" EXACT []
synonym: "X-linked intellectual developmental disorder 100" EXACT []
synonym: "X-linked mental retardation 100" EXACT []
xref: MIM:300923
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112041
name: non-syndromic X-linked intellectual disability 90
def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15185169/ "DO"]
synonym: "DLG3-RELATED CONDITION" EXACT []
synonym: "DLG3-related disorder" EXACT []
synonym: "MRX90" EXACT []
synonym: "XLID90" EXACT []
synonym: "X-linked intellectual developmental disorder 90" EXACT []
synonym: "X-linked mental retardation 90" EXACT []
xref: MIM:300850
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112042
name: Tonne-Kalscheuer syndrome
def: "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25735484/ "DO", https://pubmed.ncbi.nlm.nih.gov/29728705/ "DO"]
synonym: "intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia" EXACT []
synonym: "MRX61" EXACT []
synonym: "RLIM-RELATED SYNDROMIC INTELLECTUAL DISABILITY" EXACT []
synonym: "TOKAS" EXACT []
synonym: "X-linked mental retardation 61" EXACT []
xref: MIM:300978
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
created_by: gthayman
creation_date: 2019-04-19T12:03:39Z

[Term]
id: DOID:0112043
name: non-syndromic X-linked intellectual disability 91
alt_id: MIM:300577
def: "A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15915161/ "DO"]
synonym: "MRX91" EXACT []
synonym: "XLID91" EXACT []
synonym: "X-linked intellectual developmental disorder 91" EXACT []
synonym: "X-linked intellectual disability 91" EXACT []
synonym: "X-linked mental retardation 91" EXACT []
xref: MESH:C564482
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080009 ! X-linked dominant disease
created_by: slaulede
creation_date: 2018-11-09T10:26:28Z

[Term]
id: DOID:0112044
name: non-syndromic X-linked intellectual disability 98
def: "A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23615299/ "DO", https://pubmed.ncbi.nlm.nih.gov/27358180/ "DO"]
synonym: "MRX98" EXACT []
synonym: "NEXMIF-RELATED CONDITION" EXACT []
synonym: "XLID98" EXACT []
synonym: "X-linked intellectual developmental disorder 98" EXACT []
synonym: "X-linked mental retardation 98" EXACT []
xref: MIM:300912
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080009 ! X-linked dominant disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112045
name: non-syndromic X-linked intellectual disability 93
alt_id: MIM:300659
def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17668385/ "DO"]
synonym: "BRWD3-RELATED DISORDER" EXACT []
synonym: "MRX93" EXACT []
synonym: "XLID93" EXACT []
synonym: "X-linked intellectual developmental disorder 93" EXACT []
synonym: "X-linked mental retardation 93" EXACT []
synonym: "X-linked mental retardation with macrocephaly" EXACT []
xref: MESH:C567066
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:9003816 ! Macrocephaly
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112046
name: non-syndromic X-linked intellectual disability 97
alt_id: MIM:300803
def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10398247/ "DO", https://pubmed.ncbi.nlm.nih.gov/27993705/ "DO"]
synonym: "MRX65" EXACT []
synonym: "MRX97" EXACT []
synonym: "MRXZ" EXACT []
synonym: "nonsyndromic X-linked intellectual developmental disorder 97" EXACT []
synonym: "XLID97" EXACT []
synonym: "X-linked intellectual developmental disorder 97" EXACT []
synonym: "X-linked mental retardation 65" EXACT []
synonym: "X-linked mental retardation 97" EXACT []
synonym: "X-linked mental retardation, ZNF711-related" EXACT []
xref: MESH:C567583
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
created_by: mtutaj
creation_date: 2019-03-21T11:40:37Z

[Term]
id: DOID:0112047
name: non-syndromic X-linked intellectual disability 53
alt_id: MIM:300324
def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11337751/ "DO"]
synonym: "MRX53" EXACT []
synonym: "XLID53" EXACT []
synonym: "X-linked intellectual developmental disorder 53" EXACT []
synonym: "X-linked mental retardation 53" EXACT []
xref: MESH:C564533
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-06-16T12:44:21Z

[Term]
id: DOID:0112048
name: non-syndromic X-linked intellectual disability 101
def: "A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24115387/ "DO"]
synonym: "INTELLECTUAL DISABILITY, X-LINKED 101" EXACT []
synonym: "MRX101" EXACT []
synonym: "XLID101" EXACT []
synonym: "X-linked intellectual developmental disorder 101" EXACT []
synonym: "X-linked mental retardation 101" EXACT []
xref: MIM:300928
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112049
name: non-syndromic X-linked intellectual disability 23
alt_id: MIM:300046
def: "A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/6711606/ "DO", https://pubmed.ncbi.nlm.nih.gov/8852668/ "DO"]
synonym: "MRX23" EXACT []
synonym: "XLID23" EXACT []
synonym: "X-linked intellectual developmental disorder 23" EXACT []
synonym: "X-linked mental retardation 23" EXACT []
xref: MESH:C563144
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112050
name: non-syndromic X-linked intellectual disability 63
alt_id: MIM:300387
def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10854107/ "DO", https://pubmed.ncbi.nlm.nih.gov/11889465/ "DO"]
synonym: "ACSL4-RELATED CONDITION" EXACT []
synonym: "ACSL4-related intellectual disability" EXACT []
synonym: "MRX63" EXACT []
synonym: "MRX68" EXACT []
synonym: "XLID63" EXACT []
synonym: "X-linked intellectual developmental disorder 63" EXACT []
synonym: "X-linked mental retardation 63" EXACT []
synonym: "X-linked mental retardation 68" EXACT []
xref: GARD:5613
xref: MESH:C564522
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080009 ! X-linked dominant disease
created_by: mtutaj
creation_date: 2020-08-03T12:10:30Z

[Term]
id: DOID:0112051
name: non-syndromic X-linked intellectual disability 30
alt_id: MESH:C563151
alt_id: MIM:300558
def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10946356/ "DO", https://pubmed.ncbi.nlm.nih.gov/9332663/ "DO", https://pubmed.ncbi.nlm.nih.gov/9731525/ "DO"]
synonym: "MRX30" EXACT []
synonym: "MRX47" EXACT []
synonym: "XLID30" EXACT []
synonym: "X-linked intellectual developmental disorder 30" EXACT []
synonym: "X-linked mental retardation 30" EXACT []
synonym: "X-linked mental retardation 30/47" EXACT []
synonym: "X-linked mental retardation 47" EXACT []
xref: MESH:C563146
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112052
name: non-syndromic X-linked intellectual disability 82
alt_id: MIM:300518
def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15526294/ "DO"]
synonym: "MRX82" EXACT []
synonym: "XLID82" EXACT []
synonym: "X-linked impaired intellectual development 82" EXACT []
synonym: "X-linked intellectual developmental disorder 82" EXACT []
synonym: "X-linked mental retardation 82" EXACT []
xref: MESH:C564496
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112053
name: non-syndromic X-linked intellectual disability 88
def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12089445/ "DO", https://pubmed.ncbi.nlm.nih.gov/23871722/ "DO"]
synonym: "MRX88" EXACT []
synonym: "XLID88" EXACT []
synonym: "X-linked intellectual developmental disorder 88" EXACT []
synonym: "X-linked mental retardation 88" EXACT []
xref: MIM:300852
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112054
name: non-syndromic X-linked intellectual disability 107
def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29374277/ "DO"]
synonym: "MRX107" EXACT []
synonym: "XLID107" EXACT []
synonym: "X-linked intellectual developmental disorder 107" EXACT []
synonym: "X-linked mental retardation 107" EXACT []
xref: MIM:301013
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080009 ! X-linked dominant disease
created_by: rgd
creation_date: 2017-12-07T00:00:00Z

[Term]
id: DOID:0112055
name: non-syndromic X-linked intellectual disability 46
alt_id: MIM:300436
def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9783701/ "DO"]
synonym: "ARHGEF6-RELATED CONDITION" BROAD []
synonym: "INTELLECTUAL DISABILITY, X-LINKED 46" EXACT []
synonym: "MRX46" EXACT []
synonym: "XLID46" EXACT []
synonym: "X-linked intellectual developmental disorder 46" EXACT []
synonym: "X-linked mental retardation 46" EXACT []
xref: MESH:C564513
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: slaulede
creation_date: 2019-01-14T17:54:12Z

[Term]
id: DOID:0112056
name: X-linked intellectual disability-short stature-overweight syndrome
def: "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26166480/ "DO"]
synonym: "MRX12" EXACT []
synonym: "MRX35" EXACT []
synonym: "XLID12" EXACT []
synonym: "X-linked intellectual developmental disorder 12" EXACT []
synonym: "X-linked mental retardation 12" EXACT []
synonym: "X-linked mental retardation 35" EXACT []
xref: MIM:300957
xref: ORDO:457240
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112057
name: non-syndromic X-linked intellectual disability 42
alt_id: MIM:300372
def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11807862/ "DO"]
synonym: "MRX42" EXACT []
synonym: "XLID42" EXACT []
synonym: "X-linked intellectual developmental disorder 42" EXACT []
synonym: "X-linked mental retardation 42" EXACT []
xref: MESH:C564524
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112058
name: non-syndromic X-linked intellectual disability 41
def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8826463/ "DO", https://pubmed.ncbi.nlm.nih.gov/9106537/ "DO", https://pubmed.ncbi.nlm.nih.gov/9620768/ "DO"]
synonym: "MRX41" EXACT []
synonym: "MRX48" EXACT []
synonym: "XLID41" EXACT []
synonym: "X-linked intellectual developmental disorder 41" EXACT []
synonym: "X-linked mental retardation 41" EXACT []
synonym: "X-linked mental retardation 48" EXACT []
xref: MIM:300849
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080009 ! X-linked dominant disease
created_by: mtutaj
creation_date: 2020-09-28T00:00:00Z

[Term]
id: DOID:0112059
name: non-syndromic X-linked intellectual disability 72
alt_id: MIM:300271
def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11050621/ "DO", https://pubmed.ncbi.nlm.nih.gov/20159109/ "DO"]
synonym: "MRX72" EXACT []
synonym: "XLID72" EXACT []
synonym: "X-linked intellectual developmental disorder 72" EXACT []
synonym: "X-linked mental retardation 72" EXACT []
xref: MESH:C564547
is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-08-03T12:02:41Z

[Term]
id: DOID:0112060
name: Raynaud-Claes syndrome
def: "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23647072/ "DO", https://pubmed.ncbi.nlm.nih.gov/27550844/ "DO", https://pubmed.ncbi.nlm.nih.gov/8826458/ "DO", https://pubmed.ncbi.nlm.nih.gov/9415477/ "DO"]
synonym: "CLCN4-RELATED DISORDER" EXACT []
synonym: "CLCN4-RELATED X-LINKED INTELLECTUAL DISABILITY SYNDROME" EXACT []
synonym: "mental retardation, X-linked 15" EXACT []
synonym: "mental retardation, X-linked 49" EXACT []
synonym: "mental retardation, X-linked 49/15" EXACT []
synonym: "MRX15" EXACT []
synonym: "MRX49" EXACT []
synonym: "MRXSRC" EXACT []
xref: EFO:0009066
xref: MIM:300114
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080009 ! X-linked dominant disease
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112061
name: immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
def: "A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30723080/ "DO", https://pubmed.ncbi.nlm.nih.gov/32542921/ "DO"]
synonym: "IMD73B" EXACT []
synonym: "Immunodeficiency 73B" EXACT []
xref: MIM:618986
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111962 ! combined immunodeficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112062
name: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
def: "A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25512081/ "DO"]
synonym: "IMD73C" EXACT []
synonym: "immunodeficiency 73C" EXACT []
xref: MIM:618987
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111962 ! combined immunodeficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112063
name: X-Linked immunodeficiency 74
def: "A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32706371/ "DO"]
synonym: "COVID19-related immunodeficiency-74, X-linked" EXACT []
synonym: "IMD74" EXACT []
synonym: "Immunodeficiency 74" EXACT []
synonym: "Immunodeficiency 74, COVID19-related" EXACT []
synonym: "respiratory insufficiency due to SARS-CoV-2 viral infection" EXACT []
synonym: "TLR7 deficiency" EXACT []
synonym: "X-linked immunodeficiency 74,COVID-19-related" EXACT []
xref: MIM:301051
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0080600 ! COVID-19
is_a: DOID:11200 ! T cell deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112064
name: immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
alt_id: MIM:608203
def: "A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21167572/ "DO", https://pubmed.ncbi.nlm.nih.gov/32542921/ "DO"]
synonym: "IMD73A" EXACT []
synonym: "neutrophil immunodeficiency syndrome" EXACT []
xref: MESH:C564275
xref: ORDO:183707
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0111962 ! combined immunodeficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112065
name: nuclear type mitochondrial complex I deficiency
def: "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22644603/ "DO", https://pubmed.ncbi.nlm.nih.gov/22972949/ "DO"]
synonym: "MC1DN" EXACT []
xref: MIM:PS252010
is_a: DOID:0060536 ! mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112066
name: nuclear type mitochondrial complex I deficiency 6
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11220739/ "DO"]
synonym: "MC1DN6" EXACT []
xref: MIM:618228
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112067
name: nuclear type mitochondrial complex I deficiency 25
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22277967/ "DO"]
synonym: "MC1DN25" EXACT []
xref: MIM:618246
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112068
name: nuclear type mitochondrial complex I deficiency 5
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11349233/ "DO"]
synonym: "MC1DN5" EXACT []
synonym: "NDUFS1-RELATED CONDITION" EXACT []
xref: MIM:618226
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112069
name: nuclear type mitochondrial complex I deficiency 22
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21150889/ "DO"]
synonym: "MC1DN22" EXACT []
xref: MIM:618243
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112070
name: nuclear type mitochondrial complex I deficiency 18
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19463981/ "DO"]
synonym: "MC1DN18" EXACT []
xref: MIM:618240
xref: MONDO:0032623
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112071
name: nuclear type mitochondrial complex I deficiency 31
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28604674/ "DO"]
synonym: "MC1DN31" EXACT []
xref: MIM:618251
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112072
name: nuclear type mitochondrial complex I deficiency 20
alt_id: MIM:611126
def: "A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. (DO)" [https://ghr.nlm.nih.gov/condition/acad9-deficiency "DO", https://pubmed.ncbi.nlm.nih.gov/17564966/ "DO", https://pubmed.ncbi.nlm.nih.gov/21057504/ "DO"]
synonym: "ACAD9 deficiency" EXACT []
synonym: "ACAD9-RELATED CONDITION" EXACT []
synonym: "Acyl-CoA dehydrogenase 9 deficiency" EXACT []
synonym: "deficiency of acyl-CoA dehydrogenase family, member 9" EXACT []
synonym: "MC1DN20" EXACT []
synonym: "mitochondrial complex 1 deficiency due to ACAD9 deficiency" EXACT []
synonym: "mitochondrial complex I deficiency due to ACAD9 deficiency" EXACT []
xref: MESH:C567006
xref: ORDO:99901
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
is_a: DOID:11984 ! hypertrophic cardiomyopathy
is_a: DOID:9002802 ! Acidoses
is_a: DOID:9005532 ! Muscle Weakness
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112073
name: nuclear type mitochondrial complex I deficiency 9
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15372108/ "DO"]
synonym: "MC1DN9" EXACT []
xref: MIM:618232
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112074
name: nuclear type mitochondrial complex I deficiency 1
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10330338/ "DO", https://pubmed.ncbi.nlm.nih.gov/10944442/ "DO"]
synonym: "MC1DN1" EXACT []
xref: MIM:252010
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-06-23T10:46:32Z

[Term]
id: DOID:0112075
name: nuclear type mitochondrial complex I deficiency 10
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16200211/ "DO"]
synonym: "MC1DN10" EXACT []
synonym: "NDUFAF2-RELATED DISORDER" EXACT []
xref: MIM:618233
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112076
name: nuclear type mitochondrial complex I deficiency 13
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18513682/ "DO"]
synonym: "MC1DN13" EXACT []
xref: MIM:618235
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112077
name: nuclear type mitochondrial complex I deficiency 15
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18179882/ "DO"]
synonym: "MC1DN15" EXACT []
xref: MIM:618237
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112078
name: nuclear type mitochondrial complex I deficiency 17
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18614015/ "DO"]
synonym: "MC1DN17" EXACT []
xref: MIM:618239
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112079
name: nuclear type mitochondrial complex I deficiency 24
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22200994/ "DO"]
synonym: "MC1DN24" EXACT []
xref: MIM:618245
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112080
name: nuclear type mitochondrial complex I deficiency 32
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29429571/ "DO"]
synonym: "MC1DN32" EXACT []
xref: MIM:618252
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112081
name: nuclear type mitochondrial complex I deficiency 8
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14729820/ "DO"]
synonym: "MC1DN8" EXACT []
xref: MIM:618230
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112082
name: nuclear type mitochondrial complex I deficiency 4
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10080174/ "DO"]
synonym: "MC1DN4" EXACT []
synonym: "NDUFV1-RELATED CONDITION" EXACT []
synonym: "NDUFV1-RELATED DISORDER" EXACT []
synonym: "NDUFV1-RELATED DISORDERS" EXACT []
xref: MIM:618225
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112083
name: nuclear type mitochondrial complex I deficiency 2
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9837812/ "DO"]
synonym: "MC1DN2" EXACT []
xref: MIM:618222
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: slaulede
creation_date: 2018-05-22T18:34:35Z

[Term]
id: DOID:0112084
name: nuclear type mitochondrial complex I deficiency 29
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27374773/ "DO"]
synonym: "MC1DN29" EXACT []
xref: MIM:618250
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112085
name: nuclear type mitochondrial complex I deficiency 19
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20818383/ "DO"]
synonym: "MC1DN19" EXACT []
synonym: "mitochondrial complex I deficiency, mitochondrial type 19" RELATED []
xref: MIM:618241
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112086
name: nuclear type mitochondrial complex I deficiency 26
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22114105/ "DO"]
synonym: "MC1DN26" EXACT []
synonym: "NDUFA9-RELATED CONDITION" EXACT []
xref: MIM:618247
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-17T00:00:00Z

[Term]
id: DOID:0112087
name: nuclear type mitochondrial complex I deficiency 23
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21617257/ "DO"]
synonym: "MC1DN23" EXACT []
xref: MIM:618244
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-16T00:00:00Z

[Term]
id: DOID:0112088
name: nuclear type mitochondrial complex I deficiency 21
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20818383/ "DO"]
synonym: "MC1DN21" EXACT []
synonym: "NUBPL-RELATED CONDITION" EXACT []
xref: MIM:618242
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-17T00:00:00Z

[Term]
id: DOID:0112089
name: nuclear type mitochondrial complex I deficiency 11
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17557076/ "DO"]
synonym: "MC1DN11" EXACT []
xref: MIM:618234
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-17T00:00:00Z

[Term]
id: DOID:0112090
name: nuclear type mitochondrial complex I deficiency 27
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22499348/ "DO"]
synonym: "MC1DN27" EXACT []
xref: MIM:618248
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: slaulede
creation_date: 2018-10-11T10:50:34Z

[Term]
id: DOID:0112091
name: nuclear type mitochondrial complex I deficiency 34
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31866046/ "DO"]
synonym: "MC1DN34" EXACT []
xref: MIM:618776
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-17T00:00:00Z

[Term]
id: DOID:0112092
name: nuclear type mitochondrial complex I deficiency 7
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12754703/ "DO"]
synonym: "MC1DN7" EXACT []
xref: MIM:618229
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-17T00:00:00Z

[Term]
id: DOID:0112093
name: nuclear type mitochondrial complex I deficiency 3
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10330338/ "DO", https://pubmed.ncbi.nlm.nih.gov/17275378/ "DO"]
synonym: "MC1DN3" EXACT []
xref: MIM:618224
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-17T00:00:00Z

[Term]
id: DOID:0112094
name: nuclear type mitochondrial complex I deficiency 14
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18306244/ "DO"]
synonym: "MC1DN14" EXACT []
xref: MIM:618236
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-17T00:00:00Z

[Term]
id: DOID:0112095
name: nuclear type mitochondrial complex I deficiency 28
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25901006/ "DO"]
synonym: "MC1DN28" EXACT []
xref: MIM:618249
xref: MONDO:0032632
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-17T00:00:00Z

[Term]
id: DOID:0112096
name: nuclear type mitochondrial complex I deficiency 16
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18940309/ "DO"]
synonym: "MC1DN16" EXACT []
xref: MIM:618238
xref: MONDO:0032621
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-17T00:00:00Z

[Term]
id: DOID:0112097
name: nuclear type mitochondrial complex I deficiency 33
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30245030/ "DO"]
synonym: "MC1DN33" EXACT []
xref: MIM:618253
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-17T00:00:00Z

[Term]
id: DOID:0112098
name: nuclear type mitochondrial complex I deficiency 30
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26741492/ "DO"]
synonym: "MC1DN30" EXACT []
xref: MIM:301021
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-17T00:00:00Z

[Term]
id: DOID:0112099
name: nuclear type mitochondrial complex I deficiency 12
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17262856/ "DO"]
synonym: "MC1DN12" EXACT []
xref: MIM:301020
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-08-21T00:00:00Z

[Term]
id: DOID:0112100
name: mitochondrial type mitochondrial complex I deficiency
def: "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22972949/ "DO"]
synonym: "MC1DM" EXACT []
is_a: DOID:0060536 ! mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2020-10-17T00:00:00Z

[Term]
id: DOID:0112101
name: mitochondrial type mitochondrial complex I deficiency 1
def: "A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11456298/ "DO"]
synonym: "MC1DM1" EXACT []
xref: MIM:500014
is_a: DOID:0112100 ! mitochondrial type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2019-05-16T09:41:11Z

[Term]
id: DOID:0112102
name: Sotos syndrome 2
def: "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20673863/ "DO"]
synonym: "Malan overgrowth syndrome" EXACT []
synonym: "Malan syndrome" EXACT []
synonym: "MALNS" EXACT []
synonym: "NFIX-RELATED CONDITION" BROAD []
synonym: "SOTOS2" EXACT []
xref: MIM:614753
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14748 ! Sotos syndrome
created_by: mtutaj
creation_date: 2019-12-30T08:58:21Z

[Term]
id: DOID:0112103
name: Sotos syndrome 1
def: "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11896389/ "DO", https://pubmed.ncbi.nlm.nih.gov/14517949/ "DO"]
synonym: "NSD1-RELATED CONDITION" EXACT []
synonym: "SOTOS1" EXACT []
xref: MIM:117550
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14748 ! Sotos syndrome
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112104
name: Sotos syndrome 3
def: "A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25753423/ "DO"]
synonym: "APC2-RELATED CONDITION" BROAD []
synonym: "SOTOS3" EXACT []
xref: MIM:617169
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:14748 ! Sotos syndrome
created_by: mtutaj
creation_date: 2019-03-19T13:31:16Z

[Term]
id: DOID:0112105
name: X-linked parkinsonism-spasticity syndrome
def: "A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20629132/ "DO", https://pubmed.ncbi.nlm.nih.gov/23595882/ "DO"]
synonym: "X-linked parkinsonism with spasticity" EXACT []
synonym: "XPDS" EXACT []
xref: MIM:300911
xref: ORDO:363654
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0080855 ! Parkinsonism
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112106
name: chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
def: "A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16001442/ "DO"]
synonym: "X-linked dominant chondrodysplasia, Chassaing-Lacombe type" EXACT []
synonym: "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome" EXACT []
xref: MIM:300863
xref: ORDO:163966
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0080352 ! X-linked chondrodysplasia punctata 2
is_a: DOID:10629 ! microphthalmia
is_a: DOID:10908 ! hydrocephalus
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112107
name: McLeod syndrome
alt_id: MIM:300842
def: "A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. (DO)" [https://medlineplus.gov/genetics/condition/mcleod-neuroacanthocytosis-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/17683354/ "DO", https://pubmed.ncbi.nlm.nih.gov/8004674/ "DO"]
synonym: "MCLDS" EXACT []
synonym: "McLeod neuroacanthocytosis syndrome" EXACT []
synonym: "McLeod Phenotype" EXACT []
synonym: "McLeod syndrome with chronic granulomatous disease" EXACT []
synonym: "McLeod syndrome with or without chronic granulomatous disease" EXACT []
synonym: "Neuroacanthocytosis, McLeod Type" EXACT []
synonym: "X-linked McLeod syndrome" EXACT []
xref: GARD:10731
xref: MESH:C564038
xref: ORDO:59306
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0050765 ! neuroacanthocytosis
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112108
name: myofibrillar myopathy 10
def: "A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32779703/ "DO"]
synonym: "MFM10" EXACT []
xref: MIM:619040
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080307 ! myofibrillar myopathy
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112109
name: spermatogenic failure 44
def: "A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31654588/ "DO"]
synonym: "SPGF44" EXACT []
xref: MIM:619044
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112110
name: combined oxidative phosphorylation deficiency 49
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29361167/ "DO"]
synonym: "COXPD49" EXACT []
xref: MIM:619024
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112111
name: combined oxidative phosphorylation deficiency 50
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31039582/ "DO"]
synonym: "COXPD50" EXACT []
xref: MIM:619025
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112112
name: combined oxidative phosphorylation deficiency 48
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27356879/ "DO"]
synonym: "COXPD48" EXACT []
xref: MIM:619012
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112113
name: combined oxidative phosphorylation deficiency 45
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23603806/ "DO"]
synonym: "COXPD45" EXACT []
xref: MIM:618951
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112114
name: combined oxidative phosphorylation deficiency 47
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30566640/ "DO"]
synonym: "COXPD47" EXACT []
xref: MIM:618958
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112115
name: combined oxidative phosphorylation deficiency 46
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26741492/ "DO"]
synonym: "COXPD46" EXACT []
xref: MIM:618952
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112116
name: combined oxidative phosphorylation deficiency 43
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30452684/ "DO"]
synonym: "COXPD43" EXACT []
xref: MIM:618851
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112117
name: combined oxidative phosphorylation deficiency 40
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26741492/ "DO"]
synonym: "COXPD40" EXACT []
synonym: "QRSL1-related COXPD" EXACT []
xref: MIM:618835
xref: ORDO:570491
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112118
name: combined oxidative phosphorylation deficiency 42
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30283131/ "DO"]
synonym: "COXPD42" EXACT []
xref: MIM:618839
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112119
name: combined oxidative phosphorylation deficiency 41
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30283131/ "DO"]
synonym: "COXPD41" EXACT []
xref: MIM:618838
xref: MONDO:0030007
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2019-03-20T10:01:07Z

[Term]
id: DOID:0112120
name: SHOX-related short stature
alt_id: MIM:300582
def: "A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9140395/ "DO", https://pubmed.ncbi.nlm.nih.gov/9916840/ "DO"]
synonym: "idiopathic familial short stature" EXACT []
synonym: "ISS" EXACT []
synonym: "X-linked idiopathic short stature" NARROW []
xref: MESH:C564479
xref: ORDO:314795
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9006257 ! Growth Disorders
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112121
name: nephrogenic syndrome of inappropriate antidiuresis
alt_id: MIM:300539
def: "A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15872203/ "DO"]
synonym: "AVPR2-RELATED CONDITION" BROAD []
synonym: "NSIAD" EXACT []
xref: MESH:C564491
xref: ORDO:93606
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:3401 ! inappropriate ADH syndrome
is_a: DOID:447 ! renal tubular transport disease
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112122
name: X-linked epilepsy with variable learning disabilities and behavior disorders
alt_id: MIM:300491
def: "An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14985377/ "DO", https://pubmed.ncbi.nlm.nih.gov/21441247/ "DO"]
synonym: "EPILX" EXACT []
synonym: "EPILX1" EXACT []
synonym: "X-linked bathing epilepsy" EXACT []
synonym: "X-linked epilepsy 1 with variable learning disabilities and behavior disorders" EXACT []
synonym: "X-linked epilepsy-learning disabilities-behavior disorders syndrome" EXACT []
synonym: "X-linked epilepsy with reflex bathing seizures" EXACT []
xref: MESH:C564505
xref: ORDO:85294
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:1826 ! epilepsy
is_a: DOID:8927 ! learning disability
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112123
name: deafness, dystonia, and cerebral hypomyelination
alt_id: MIM:300475
def: "A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24011989/ "DO"]
synonym: "CADDS" NARROW []
synonym: "contiguous Abcd1/Dxs1375e deletion syndrome" EXACT []
synonym: "DDCH" EXACT []
synonym: "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome" EXACT []
synonym: "severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome" EXACT []
xref: GARD:12472
xref: MESH:C564508
xref: ORDO:369939
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112124
name: X-linked retinitis pigmentosa and sinorespiratory infections
alt_id: DOID:9005415
alt_id: MIM:300455
def: "A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10094550/ "DO", https://pubmed.ncbi.nlm.nih.gov/1733835/ "DO"]
synonym: "primary ciliary dyskinesia-retinitis pigmentosa syndrome" EXACT []
synonym: "RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS" NARROW []
synonym: "RPSRDF" EXACT []
synonym: "X-linked retinitis pigmentosa and sinorespiratory infections with deafness" NARROW []
synonym: "X-linked retinitis pigmentosa and sinorespiratory infections, with or without deafness" EXACT []
xref: MESH:C567595
xref: ORDO:247522
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:225 ! syndrome
is_a: DOID:9008680 ! Respiratory Tract Infections
is_a: DOID:9008681 ! Deafness
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112125
name: alpha-thalassemia myelodysplasia syndrome
alt_id: MIM:300448
def: "A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12858175/ "DO"]
synonym: "acquired HbH disease" EXACT []
synonym: "acquired hemoglobin H disease" EXACT []
synonym: "alpha-thalassemia-myelodysplastic syndrome" EXACT []
synonym: "ATMDS" EXACT []
xref: MESH:C563023
xref: ORDO:231401
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0050908 ! myelodysplastic syndrome
is_a: DOID:1099 ! alpha thalassemia
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112126
name: Stocco Dos Santos type X-linked intellectual disability
alt_id: MIM:300434
def: "A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16249884/ "DO"]
synonym: "mental retardation, Stocco dos Santos type" EXACT []
synonym: "MRXSDS" EXACT []
synonym: "SDSX" EXACT []
synonym: "Stocco dos Santos Syndrome" EXACT []
synonym: "Stocco dos Santos X-linked mental retardation syndrome" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Stocco dos Santos type" EXACT []
synonym: "X-linked mental retardation, Stocco Dos Santos type" EXACT []
xref: MESH:C537495
xref: ORDO:85288
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:225 ! syndrome
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112127
name: HRPT-related hyperuricemia
alt_id: MIM:300323
def: "A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10657589/ "DO", https://pubmed.ncbi.nlm.nih.gov/2896620/ "DO"]
synonym: "Gout, HPRT-Related" EXACT []
synonym: "HPRT1-RELATED DISORDERS" BROAD []
synonym: "HPRT deficiency, grade I" EXACT []
synonym: "HPRT-related hyperuricemia" EXACT []
synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial" EXACT []
synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" EXACT []
synonym: "hypoxanthine guanine phosphoribosyltransferase partial deficiency" EXACT []
synonym: "Kelley-Seegmiller syndrome" EXACT []
synonym: "partial HPRT1 deficiency" EXACT []
synonym: "partial HPRT deficiency" EXACT []
xref: MESH:C562583
xref: ORDO:79233
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:13189 ! gout
is_a: DOID:1920 ! hyperuricemia
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112128
name: X-linked severe congenital neutropenia
alt_id: MIM:300299
def: "A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11242115/ "DO"]
synonym: "SCNX" EXACT []
synonym: "XLN" EXACT []
xref: GARD:3981
xref: MESH:C564539
xref: NCI:C176818
is_a: DOID:0050590 ! severe congenital neutropenia
is_a: DOID:0080012 ! X-linked recessive disease
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112129
name: severe congenital neutropenia 7
def: "A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24753537/ "DO", https://pubmed.ncbi.nlm.nih.gov/26324699/ "DO"]
synonym: "autosomal recessive severe congenital neutropenia 7" EXACT []
synonym: "autosomal recessive severe congenital neutropenia due to CSF3R deficiency" EXACT []
synonym: "SCN7" EXACT []
xref: MIM:617014
xref: ORDO:420702
is_a: DOID:0050590 ! severe congenital neutropenia
is_a: DOID:0050737 ! autosomal recessive disease
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112130
name: autosomal dominant severe congenital neutropenia
def: "A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. (DO)" [https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia "DO", https://pubmed.ncbi.nlm.nih.gov/28593997/ "DO"]
xref: GARD:9558
is_a: DOID:0050590 ! severe congenital neutropenia
is_a: DOID:0050736 ! autosomal dominant disease
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112131
name: severe congenital neutropenia 2
alt_id: MIM:613107
def: "An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12778173/ "DO"]
synonym: "SCN2" EXACT []
synonym: "severe congenital neutropenia, autosomal dominant 2" EXACT []
xref: MESH:C567748
is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112132
name: severe congenital neutropenia 5
def: "A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23599270/ "DO", https://pubmed.ncbi.nlm.nih.gov/23738510/ "DO"]
synonym: "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" EXACT []
synonym: "congenital neutropenia-myelofibrosis-nephromegaly syndrome" EXACT []
synonym: "SCN5" EXACT []
synonym: "severe congenital neutropenia 5, autosomal recessive" EXACT []
synonym: "VPS45 deficiency" EXACT []
xref: MIM:615285
xref: ORDO:369852
is_a: DOID:0050590 ! severe congenital neutropenia
is_a: DOID:0050737 ! autosomal recessive disease
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112133
name: severe congenital neutropenia 3
alt_id: MIM:610738
def: "A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17187068/ "DO", https://pubmed.ncbi.nlm.nih.gov/21108402/ "DO"]
synonym: "autosomal dominant or sporadic congenital neutropenia" EXACT []
synonym: "congenital agranulocytosis" EXACT []
synonym: "infantile agranulocytosis" EXACT []
synonym: "infantile genetic agranulocytosis" EXACT []
synonym: "Kostmann's agranulocytosis" EXACT []
synonym: "Kostmann's syndrome" EXACT []
synonym: "Kostmann disease" EXACT []
synonym: "Kostmann syndrome" EXACT []
synonym: "SCN3" EXACT []
synonym: "severe congenital neutropenia 3, autosomal recessive" EXACT []
synonym: "severe infantile genetic neutropenia" BROAD []
xref: GARD:302
xref: MESH:C537592
xref: ORDO:99749
is_a: DOID:0050590 ! severe congenital neutropenia
is_a: DOID:0050737 ! autosomal recessive disease
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112134
name: severe congenital neutropenia 6
def: "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25129144/ "DO"]
synonym: "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency" EXACT []
synonym: "SCN6" EXACT []
synonym: "severe congenital neutropenia 6, autosomal recessive" EXACT []
xref: MIM:616022
xref: ORDO:423384
is_a: DOID:0050590 ! severe congenital neutropenia
is_a: DOID:0050737 ! autosomal recessive disease
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112135
name: severe congenital neutropenia 8
def: "An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28972538/ "DO"]
synonym: "autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities" EXACT []
synonym: "SCN8" EXACT []
synonym: "SDSL" EXACT []
synonym: "severe congenital neutropenia 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities" EXACT []
synonym: "severe congenital neutropenia, autosomal dominant 8" EXACT []
synonym: "Shwachman-Diamond syndrome-like" EXACT []
xref: MIM:618752
is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112136
name: severe congenital neutropenia 4
alt_id: MIM:612541
def: "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19118303/ "DO"]
synonym: "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" EXACT []
synonym: "G6PC3-RELATED CONDITION" EXACT []
synonym: "SCN4" EXACT []
synonym: "severe congenital neutropenia, autosomal recessive 4" EXACT []
synonym: "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" EXACT []
xref: MESH:C567260
xref: ORDO:331176
is_a: DOID:0050590 ! severe congenital neutropenia
is_a: DOID:0050737 ! autosomal recessive disease
created_by: rgd
creation_date: 2017-10-19T15:06:42Z

[Term]
id: DOID:0112137
name: combined oxidative phosphorylation deficiency 51
def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30607703/ "DO"]
synonym: "COXPD51" EXACT []
xref: MIM:619057
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112138
name: primary coenzyme Q10 deficiency 9
def: "A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29044765/ "DO"]
synonym: "COQ10D9" EXACT []
xref: MIM:619028
is_a: DOID:0050730 ! coenzyme Q10 deficiency disease
is_a: DOID:0050737 ! autosomal recessive disease
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112139
name: nuclear type mitochondrial complex I deficiency 35
def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28040730/ "DO"]
synonym: "MC1DN35" EXACT []
xref: MIM:619003
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:0112140
name: retinitis pigmentosa 83
def: "A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30932721/ "DO"]
synonym: "RP83" EXACT []
xref: MIM:618173
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112141
name: retinitis pigmentosa 84
def: "A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24737827/ "DO", https://pubmed.ncbi.nlm.nih.gov/30208423/ "DO"]
synonym: "RP84" EXACT []
xref: MIM:618220
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112142
name: retinitis pigmentosa 85
def: "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29726989/ "DO"]
synonym: "RP85" EXACT []
xref: MIM:618345
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112143
name: retinitis pigmentosa 86
def: "A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30120214/ "DO"]
synonym: "RP86" EXACT []
xref: MIM:618613
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112144
name: retinitis pigmentosa 87
def: "A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27307694/ "DO", https://pubmed.ncbi.nlm.nih.gov/30628748/ "DO"]
synonym: "retinitis pigmentosa 87 with choroidal involvement" EXACT []
synonym: "RP87" EXACT []
xref: MIM:618697
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112145
name: retinitis pigmentosa 88
def: "A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30025130/ "DO", https://pubmed.ncbi.nlm.nih.gov/31236346/ "DO", https://pubmed.ncbi.nlm.nih.gov/31833436/ "DO"]
synonym: "RP1L1-RELATED CONDITION" BROAD []
synonym: "RP88" EXACT []
xref: MIM:618826
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112146
name: retinitis pigmentosa 89
def: "A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32386558/ "DO"]
synonym: "RP89" EXACT []
xref: MIM:618955
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112147
name: retinitis pigmentosa 90
def: "A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28412069/ "DO"]
synonym: "RP90" EXACT []
xref: MIM:619007
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112148
name: Uruguay faciocardiomusculoskeletal syndrome
alt_id: MIM:300280
def: "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11102932/ "DO", https://pubmed.ncbi.nlm.nih.gov/26933038/ "DO"]
synonym: "faciocardiomusculoskeletal syndrome, Uruguay type" EXACT []
synonym: "FCMSU" EXACT []
xref: MESH:C564544
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:0080000 ! muscular disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112149
name: terminal osseous dysplasia
alt_id: MIM:300244
def: "A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20598277/ "DO"]
synonym: "digital osseous dysplasia with facial pigmentary defects and multiple frenula" EXACT []
synonym: "ODPD" EXACT []
synonym: "ODPF" EXACT []
synonym: "ODPF syndrome" EXACT []
synonym: "terminal osseous dysplasia and pigmentary defects" EXACT []
synonym: "terminal osseous dysplasia-pigmentary defects syndrome" EXACT []
synonym: "TOD" EXACT []
synonym: "TODPD" EXACT []
xref: MESH:C564554
xref: ORDO:88630
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112150
name: X-linked spondyloepimetaphyseal dysplasia
alt_id: MIM:300106
def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27236923/ "DO", https://pubmed.ncbi.nlm.nih.gov/8064814/ "DO"]
synonym: "BGN-RELATED CONDITION" BROAD []
synonym: "SEMDX" EXACT []
synonym: "SEMD, X-Linked" EXACT []
xref: GARD:4979
xref: MESH:C564714
xref: NCI:C188996
xref: ORDO:93349
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
created_by: mtutaj
creation_date: 2020-11-04T00:00:00Z

[Term]
id: DOID:0112151
name: corpus callosum agenesis-abnormal genitalia syndrome
alt_id: MIM:300004
def: "A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14722918/ "DO", https://pubmed.ncbi.nlm.nih.gov/1605226/ "DO"]
synonym: "ACC-abnormal genitalia syndrome" EXACT []
synonym: "ACC with abnormal genitalia" EXACT []
synonym: "agenesis of corpus callosum with abnormal genitalia" EXACT []
synonym: "corpus callosum agenesis with abnormal genitalia" EXACT []
synonym: "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome" EXACT []
synonym: "Proud-Levine-Carpenter syndrome" EXACT []
synonym: "Proud syndrome" EXACT []
xref: GARD:4528
xref: MESH:C563110
xref: ORDO:2508
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
created_by: mtutaj
creation_date: 2020-11-04T00:00:00Z

[Term]
id: DOID:0112152
name: CHIME syndrome
alt_id: MIM:280000
def: "A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22444671/ "DO"]
synonym: "CHIME" EXACT []
synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome" EXACT []
synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies (CHIME) syndrome" EXACT []
synonym: "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome" EXACT []
synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome" EXACT []
synonym: "congenital disorder of glycosylation due to PIGL deficiency" EXACT []
synonym: "glycosylphosphatidylinositol biosynthesis defect 5" EXACT []
synonym: "GPIBD5" EXACT []
synonym: "neuroectodermal dysplasia, CHIME type" EXACT []
synonym: "neuroectodermal syndrome, Zunich type" EXACT []
synonym: "PIGL-CDG" EXACT []
synonym: "Zunich-Kaye syndrome" EXACT []
synonym: "Zunich neuroectodermal syndrome" EXACT []
xref: GARD:310
xref: MESH:C536729
xref: ORDO:3474
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12270 ! coloboma
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:1697 ! ichthyosis
is_a: DOID:9001734 ! Neurocutaneous Syndromes
is_a: DOID:9003483 ! Conductive Hearing Loss
created_by: mtutaj
creation_date: 2020-11-03T00:00:00Z

[Term]
id: DOID:0112153
name: hypomyelinating leukodystrophy 20
def: "A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32128616/ "DO"]
synonym: "HLD20" EXACT []
xref: MIM:619071
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
created_by: mtutaj
creation_date: 2020-07-31T11:45:15Z

[Term]
id: DOID:0112154
name: inflammatory bowel disease 30
def: "An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29408806/ "DO"]
synonym: "CARD8-RELATED CONDITION" EXACT []
synonym: "IBD30" EXACT []
synonym: "inflammatory bowel disease (Crohn disease) 30" EXACT []
xref: MIM:619079
is_a: DOID:0050589 ! inflammatory bowel disease
is_a: DOID:0050736 ! autosomal dominant disease
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0112155
name: inflammatory bowel disease 29
def: "An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29420262/ "DO"]
synonym: "IBD29" EXACT []
xref: MIM:618077
is_a: DOID:0050589 ! inflammatory bowel disease
is_a: DOID:0050736 ! autosomal dominant disease
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0112156
name: X-linked dyserythropoietic anemia
def: "An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16783379/ "DO", https://pubmed.ncbi.nlm.nih.gov/22706301/ "DO"]
synonym: "XLANP" EXACT []
synonym: "X-linked anemia with/without neutropenia and/or platelet abnormalities" EXACT []
synonym: "X-linked anemia with or without neutropenia and/or platelet abnormalities" EXACT []
synonym: "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia" EXACT []
xref: MIM:300835
xref: ORDO:363727
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1227 ! neutropenia
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:2355 ! anemia
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0112157
name: X-linked atrophic macular degeneration
def: "A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12160730/ "DO"]
xref: MIM:300834
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:9001007 ! X-Linked Macular Dystrophy
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0112158
name: De Sanctis-Cacchione syndrome
alt_id: MIM:278800
def: "A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10767341/ "DO", https://pubmed.ncbi.nlm.nih.gov/2168777/ "DO", https://pubmed.ncbi.nlm.nih.gov/28491977/ "DO"]
synonym: "Desanctis-Cacchione Syndrome" EXACT []
synonym: "xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia" EXACT []
synonym: "xeroderma pigmentosum with neurologic manifestation" EXACT []
synonym: "xerodermic idiocy of de Sanctis and Cacchione" EXACT []
xref: GARD:8276
xref: MESH:C535992
xref: NCI:C84666
xref: ORDO:1569
is_a: DOID:0050427 ! xeroderma pigmentosum
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1924 ! hypogonadism
is_a: DOID:9007661 ! Dwarfism
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0112159
name: autosomal dominant nonsyndromic deafness 78
def: "An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32294086/ "DO"]
synonym: "autosomal dominant deafness 78" EXACT []
synonym: "DFNA78" EXACT []
xref: MIM:619081
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0112160
name: autosomal dominant nonsyndromic deafness 79
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31972369/ "DO"]
synonym: "autosomal dominant deafness 79" EXACT []
synonym: "DFNA79" EXACT []
xref: MIM:619086
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2020-07-31T11:55:23Z

[Term]
id: DOID:0112161
name: Noonan syndrome 13
def: "A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32721402/ "DO"]
synonym: "NS13" EXACT []
xref: MIM:619087
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3490 ! Noonan syndrome
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0112162
name: autosomal recessive nonsyndromic deafness 116
def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31175426/ "DO"]
synonym: "autosomal recessive deafness 116" EXACT []
synonym: "DFNB116" EXACT []
xref: MIM:619093
xref: MONDO:0033670
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
created_by: mtutaj
creation_date: 2019-02-13T14:54:42Z

[Term]
id: DOID:0112163
name: spermatogenic failure 45
def: "A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30811583/ "DO"]
synonym: "SPGF45" EXACT []
xref: MIM:619094
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0112164
name: spermatogenic failure 46
def: "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32619401/ "DO", https://pubmed.ncbi.nlm.nih.gov/32681648/ "DO"]
synonym: "DNAH8-RELATED CONDITION" EXACT []
synonym: "SPGF46" EXACT []
xref: MIM:619095
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2019-02-12T10:11:43Z

[Term]
id: DOID:0112165
name: autosomal dominant nonsyndromic deafness 74
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29860631/ "DO"]
synonym: "autosomal dominant deafness 74" EXACT []
synonym: "DFNA74" EXACT []
xref: MIM:618140
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2020-09-04T13:40:09Z

[Term]
id: DOID:0112166
name: autosomal dominant nonsyndromic deafness 75
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31231791/ "DO"]
synonym: "autosomal dominant deafness 75" EXACT []
synonym: "DFNA75" EXACT []
synonym: "TRRAP-RELATED CONDITION" BROAD []
synonym: "TRRAP-RELATED DISORDER" BROAD []
xref: MIM:618778
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0112167
name: autosomal dominant nonsyndromic deafness 76
def: "An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30872814/ "DO", https://pubmed.ncbi.nlm.nih.gov/31397523/ "DO", https://pubmed.ncbi.nlm.nih.gov/31432506/ "DO"]
synonym: "autosomal dominant deafness 76" EXACT []
synonym: "DFNA76" EXACT []
synonym: "PLS1-RELATED CONDITION" EXACT []
xref: MIM:618787
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2019-02-13T13:19:12Z

[Term]
id: DOID:0112168
name: autosomal dominant nonsyndromic deafness 77
def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31273342/ "DO"]
synonym: "autosomal dominant deafness 77" EXACT []
synonym: "DFNA77" EXACT []
xref: MIM:618915
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2019-10-04T10:38:35Z

[Term]
id: DOID:0112169
name: Noonan syndrome 11
def: "A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28289718/ "DO"]
synonym: "NS11" EXACT []
xref: MIM:618499
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3490 ! Noonan syndrome
created_by: mtutaj
creation_date: 2020-09-29T09:38:19Z

[Term]
id: DOID:0112170
name: Noonan syndrome 12
def: "A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31130282/ "DO", https://pubmed.ncbi.nlm.nih.gov/31130285/ "DO"]
synonym: "NS12" EXACT []
synonym: "RRAS2-RELATED CONDITION" EXACT []
xref: MIM:618624
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3490 ! Noonan syndrome
created_by: mtutaj
creation_date: 2019-02-08T15:18:56Z

[Term]
id: DOID:0112171
name: wrinkly skin syndrome
alt_id: MIM:278250
def: "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18157129/ "DO", https://pubmed.ncbi.nlm.nih.gov/4765201/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK5200/ "DO"]
synonym: "WSS" EXACT []
xref: GARD:273
xref: MESH:C536750
xref: ORDO:2834
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:3144 ! cutis laxa
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0112172
name: hereditary combined deficiency of vitamin K-dependent clotting factors
def: "A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20630065/ "DO"]
synonym: "hereditary combined deficiency of factors II, VII, IX and X" EXACT []
xref: ORDO:98434
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0112173
name: combined deficiency of vitamin K-dependent clotting factors 1
alt_id: MIM:277450
def: "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9845520/ "DO"]
synonym: "Factors II, VII, IX, And X, Combined Deficiency Of" EXACT []
synonym: "Familial Multiple Coagulation Factor Deficiency III" EXACT []
synonym: "FMFD III" EXACT []
synonym: "GGCX-RELATED CONDITION" BROAD []
synonym: "Glutamic Acid, Deficient Gamma-Carboxylation Of" EXACT []
synonym: "MCFD3" EXACT []
synonym: "Multiple Coagulation Factor Deficiency III" EXACT []
synonym: "Vitamin K-Dependent Coagulation Defect" EXACT []
synonym: "VKCFD" EXACT []
synonym: "VKCFD1" EXACT []
xref: MESH:C564741
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112172 ! hereditary combined deficiency of vitamin K-dependent clotting factors
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0112174
name: combined deficiency of vitamin K-dependent clotting factors 2
alt_id: MIM:607473
def: "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14765194/ "DO"]
synonym: "combined deficiency of vitamin K-dependent clotting factors, type 2" EXACT []
synonym: "VKCFD2" EXACT []
xref: MESH:C564393
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112172 ! hereditary combined deficiency of vitamin K-dependent clotting factors
is_a: DOID:9004931 ! Coagulation Protein Disorders
created_by: mtutaj
creation_date: 2020-12-02T00:00:00Z

[Term]
id: DOID:0112175
name: spermatogenic failure 47
def: "A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32051257/ "DO"]
synonym: "SPGF47" EXACT []
xref: MIM:619102
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2019-02-08T16:24:01Z

[Term]
id: DOID:0112176
name: spermatogenic failure 48
def: "A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32017041/ "DO", https://pubmed.ncbi.nlm.nih.gov/32673564/ "DO"]
synonym: "SPGF48" EXACT []
xref: MIM:619108
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:0112177
name: Mayer-Rokitansky-Kuster-Hauser syndrome
def: "A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32819397/ "DO"]
synonym: "APLASIA OF THE UTERUS" NARROW []
synonym: "CAUV UROGENITAL ADYSPLASIA" NARROW []
synonym: "MRK anomaly" EXACT []
synonym: "MRKH anomaly" EXACT []
synonym: "MRKH syndrome" EXACT []
synonym: "Mullerian Aplasia" EXACT []
synonym: "MULLERIAN APLASIA/DYSGENESIS" EXACT []
synonym: "Mullerian duct failure" EXACT []
synonym: "RKH syndrome" EXACT []
synonym: "Rokitansky Kuster Hauser syndrome" EXACT []
synonym: "Rokitansky syndrome" EXACT []
synonym: "UTERUS BIPARTITUS SOLIDUS RUDIMENTARIUS CUM VAGINA SOLIDA" EXACT []
synonym: "von Mayer-Rokitansky-Kuster anomaly" EXACT []
xref: MESH:C537371
xref: NCI:C124853
xref: ORDO:3109
is_a: DOID:225 ! syndrome
is_a: DOID:9005835 ! Congenital Abnormalities
is_a: DOID:9005851 ! 46, XX Disorders of Sex Development
created_by: mtutaj
creation_date: 2020-12-22T14:53:11Z

[Term]
id: DOID:0112178
name: Mayer-Rokitansky-Kuster-Hauser syndrome type 1
def: "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16691591/ "DO"]
synonym: "congenital absence of uterus and vagina" EXACT []
synonym: "MRKH syndrome type 1" EXACT []
synonym: "Rokitansky sequence" EXACT []
xref: MIM:277000
xref: ORDO:247775
is_a: DOID:0112177 ! Mayer-Rokitansky-Kuster-Hauser syndrome
created_by: mtutaj
creation_date: 2020-12-22T14:59:11Z

[Term]
id: DOID:0112179
name: Mayer-Rokitansky-Kuster-Hauser syndrome type 2
def: "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. (DO)" [https://pubmed.ncbi.nlm.nih.gov/469663/ "DO"]
synonym: "atypical MRKH syndrome" EXACT []
synonym: "Klippel-Feil deformity, conductive deafness, and absent vagina" EXACT []
synonym: "Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II" EXACT []
synonym: "MRKH syndrome type 2" EXACT []
synonym: "MRKH, Type II" EXACT []
synonym: "mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT []
synonym: "Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies" EXACT []
synonym: "mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia" EXACT []
synonym: "MURCS" EXACT []
synonym: "MURCS association" EXACT []
xref: MIM:601076
xref: ORDO:2578
is_a: DOID:0112177 ! Mayer-Rokitansky-Kuster-Hauser syndrome
created_by: mtutaj
creation_date: 2020-09-04T13:10:00Z

[Term]
id: DOID:0112180
name: urocanase deficiency
alt_id: MIM:276880
def: "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19304569/ "DO", https://pubmed.ncbi.nlm.nih.gov/6107814/ "DO"]
synonym: "encephalopathy due to urocanase deficiency" EXACT []
synonym: "high urine urocanic acid levels" EXACT []
synonym: "urocanate hydratase deficiency" EXACT []
synonym: "urocanic aciduria" EXACT []
synonym: "UROCD" EXACT []
xref: GARD:8539
xref: MESH:C536479
xref: ORDO:210128
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9265 ! histidine metabolism disease
created_by: mtutaj
creation_date: 2019-02-13T12:31:20Z

[Term]
id: DOID:0112181
name: Schinzel type phocomelia
alt_id: MIM:276820
def: "A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16826533/ "DO", https://pubmed.ncbi.nlm.nih.gov/20949531/ "DO"]
synonym: "AARRS" EXACT []
synonym: "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome" EXACT []
synonym: "Al-Awadi-Raas-Rothschild Syndrome" EXACT []
synonym: "Al Awadi Rass Rothschild syndrome" EXACT []
synonym: "Al Awadi Syndrome" EXACT []
synonym: "aplasia/hypoplasia of limbs and pelvis" EXACT []
synonym: "congenital absence of ulna and fibula" EXACT []
synonym: "Limb-Pelvis Hypoplasia-Aplasia syndrome" EXACT []
synonym: "LPHAS" EXACT []
synonym: "Schinzel phocomelia syndrome" EXACT []
synonym: "severe limb deficit" EXACT []
synonym: "Ulna and fibula absence of with severe limb deficiency" EXACT []
xref: GARD:9212
xref: MESH:C535612
xref: ORDO:2879
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13938 ! amenorrhea
is_a: DOID:225 ! syndrome
is_a: DOID:9000545 ! Ectromelia
created_by: mtutaj
creation_date: 2020-07-17T13:04:05Z

[Term]
id: DOID:0112182
name: mismatch repair cancer syndrome
def: "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24737826/ "DO", https://pubmed.ncbi.nlm.nih.gov/7661930/ "DO"]
synonym: "childhood cancer syndrome" EXACT []
synonym: "CMMRDS" EXACT []
synonym: "CMMR-D syndrome" EXACT []
synonym: "CNS tumors with Familial polyposis of the colon" EXACT []
synonym: "CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME" EXACT []
synonym: "mismatch repair cancer syndromes" EXACT []
synonym: "mismatch repair deficiency" EXACT []
synonym: "MMRCS" EXACT []
synonym: "MMR deficiency" EXACT []
synonym: "Turcot syndrome" EXACT []
xref: MESH:C536928
xref: MIM:PS276300
xref: NCI:C3938
xref: ORDO:252202
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes
is_a: DOID:9007502 ! Brain Neoplasms
is_a: DOID:9008443 ! Colorectal Neoplasms
created_by: mtutaj
creation_date: 2019-03-05T08:16:37Z

[Term]
id: DOID:0112183
name: familial thyroid dyshormonogenesis
def: "A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15863666/ "DO"]
synonym: "dyshormogenetic goiter" EXACT []
synonym: "Thyroid Dyshormonogenesis" EXACT []
synonym: "thyroid hormonogenesis defect" EXACT []
xref: ORDO:95716
is_a: DOID:0050328 ! congenital hypothyroidism
created_by: mtutaj
creation_date: 2020-12-22T15:35:11Z

[Term]
id: DOID:0112184
name: thyroid dyshormonogenesis 5
alt_id: MIM:274900
def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18042646/ "DO"]
synonym: "congenital hypothyroidism due to dyshormonogenesis, 5" EXACT []
synonym: "genetic defect in thyroid hormonogenesis 5" EXACT []
synonym: "TDH5" EXACT []
xref: MESH:C562771
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112183 ! familial thyroid dyshormonogenesis
created_by: mtutaj
creation_date: 2020-12-22T15:31:11Z

[Term]
id: DOID:0112185
name: thyroid dyshormonogenesis 1
alt_id: MIM:274400
def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9171822/ "DO"]
synonym: "genetic defect in thyroid hormonogenesis 1" EXACT []
synonym: "Hypothyroidism, Congenital, due to Dyshormonogenesis, 1" EXACT []
synonym: "iodide accumulation, transport, or trapping defect" EXACT []
synonym: "iodine accumulation, transport, or trapping defect" EXACT []
synonym: "SLC5A5-RELATED CONDITION" EXACT []
synonym: "TDH1" EXACT []
xref: MESH:C564766
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112183 ! familial thyroid dyshormonogenesis
created_by: mtutaj
creation_date: 2020-12-22T15:35:11Z

[Term]
id: DOID:0112186
name: thyroid dyshormonogenesis 2A
alt_id: MIM:274500
def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1401057/ "DO"]
synonym: "congenital hypothyroidism due to dyshormonogenesis 2A" EXACT []
synonym: "genetic defect in thyroid hormonogenesis 2A" EXACT []
synonym: "iodide peroxidase deficiency" EXACT []
synonym: "TDH2A" EXACT []
synonym: "thyroid peroxidase deficiency" EXACT []
xref: MESH:C563206
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112183 ! familial thyroid dyshormonogenesis
created_by: mtutaj
creation_date: 2020-10-13T08:05:17Z

[Term]
id: DOID:0112187
name: thyroid dyshormonogenesis 3
alt_id: MIM:274700
def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17244789/ "DO"]
synonym: "congenital hypothyroidism due to dyshormonogenesis 3" EXACT []
synonym: "genetic defect in thyroid hormonogenesis 3" EXACT []
synonym: "TDH3" EXACT []
synonym: "TG-RELATED CONDITION" BROAD []
xref: MESH:C562769
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112183 ! familial thyroid dyshormonogenesis
created_by: mtutaj
creation_date: 2020-12-22T15:47:11Z

[Term]
id: DOID:0112188
name: thyroid dyshormonogenesis 4
alt_id: MIM:274800
def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18434651/ "DO"]
synonym: "Deiodinase Deficiency" EXACT []
synonym: "genetic defect in thyroid hormonogenesis 4" EXACT []
synonym: "Hypothyroidism, Congenital, due to Dyshormonogenesis, 4" EXACT []
synonym: "iodotyrosine dehalogenase deficiency" EXACT []
synonym: "TDH4" EXACT []
xref: MESH:C562770
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112183 ! familial thyroid dyshormonogenesis
created_by: rgd
creation_date: 2017-04-18T00:00:00Z

[Term]
id: DOID:0112189
name: thyroid dyshormonogenesis 6
alt_id: MIM:607200
def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12110737/ "DO"]
synonym: "congenital hypothyroidism due to dyshormonogenesis 6" EXACT []
synonym: "DUOX2-RELATED CONDITION" EXACT []
synonym: "genetic defect in thyroid hormonogenesis 6" EXACT []
synonym: "nongoitrous euthyroid hyperthyrotropinemia" NARROW []
synonym: "TDH6" EXACT []
xref: MESH:C564608
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112183 ! familial thyroid dyshormonogenesis
created_by: mtutaj
creation_date: 2019-12-16T09:44:40Z

[Term]
id: DOID:0112190
name: distal arthrogryposis type 1C
def: "A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32707087/ "DO"]
synonym: "DA1C" EXACT []
xref: MIM:619110
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:0111596 ! distal arthrogryposis type 1
created_by: mtutaj
creation_date: 2020-07-07T07:39:50Z

[Term]
id: DOID:0112191
name: tetraamelia syndrome
alt_id: DOID:9000993
def: "A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system. (DO)" [https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/16283889/ "DO"]
synonym: "TETAMS" EXACT []
synonym: "Tetra-Amelia" EXACT []
synonym: "Tetraamelia Multiple Malformations" EXACT []
synonym: "tetraamelia-multiple malformations syndrome" EXACT []
synonym: "Tetra-Amelia Syndrome" EXACT []
synonym: "Zimmer phocomelia" EXACT []
synonym: "Zimmer Taub Sova syndrome" EXACT []
xref: GARD:386
xref: MESH:C536500
xref: MIM:PS273395
xref: MONDO:0010110
xref: ORDO:3301
is_a: DOID:225 ! syndrome
is_a: DOID:9000545 ! Ectromelia
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: mtutaj
creation_date: 2020-12-22T16:00:00Z

[Term]
id: DOID:0112192
name: tetraamelia syndrome 1
alt_id: MIM:273395
def: "A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14872406/ "DO"]
synonym: "TETAMS1" EXACT []
synonym: "Tetra-Amelia Autosomal Recessive" EXACT []
synonym: "Tetraamelia, Autosomal Recessive" EXACT []
synonym: "tetra-amelia syndrome 1" EXACT []
synonym: "tetraamelia syndrome, autosomal recessive" EXACT []
xref: GARD:5148
xref: MESH:C536498
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112191 ! tetraamelia syndrome
created_by: mtutaj
creation_date: 2020-12-22T16:10:11Z

[Term]
id: DOID:0112193
name: tetraamelia syndrome 2
alt_id: MIM:618021
def: "A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16283889/ "DO", https://pubmed.ncbi.nlm.nih.gov/29769720/ "DO"]
synonym: "absence of upper and lower limbs with pulmonary hypoplasia" EXACT []
synonym: "syndrome of tetraamelia with pulmonary hypoplasia" EXACT []
synonym: "TETAMS2" EXACT []
synonym: "tetraamelia syndrome 2 with pulmonary agenesis" EXACT []
synonym: "tetra-amelia with pulmonary hypoplasia" EXACT []
synonym: "tetraamelia with pulmonary hypoplasia" EXACT []
xref: GARD:5147
xref: MESH:C536499
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112191 ! tetraamelia syndrome
is_a: DOID:9000096 ! Lung Agenesis
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:0112194
name: Filippi syndrome
alt_id: MESH:C537528
alt_id: MIM:272440
def: "A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18553552/ "DO", https://pubmed.ncbi.nlm.nih.gov/25439729/ "DO"]
synonym: "craniodigital syndrome-mental retardation, Scott type" EXACT []
synonym: "craniodigital syndrome with mental retardation" EXACT []
synonym: "FLPIS" EXACT []
synonym: "Scott Bryant Graham Syndrome" EXACT []
synonym: "Scott craniodigital syndrome with mental retardation" EXACT []
synonym: "syndactyly type I with microcephaly and mental retardation" EXACT []
synonym: "type 1 syndactyly-microcephaly-intellectual disability syndrome" EXACT []
xref: GARD:62
xref: MESH:C538152
xref: ORDO:3255
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: mtutaj
creation_date: 2020-12-22T16:17:11Z

[Term]
id: DOID:0112195
name: spondyloperipheral dysplasia
alt_id: MIM:271700
def: "An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15316962/ "DO", https://pubmed.ncbi.nlm.nih.gov/8723097/ "DO"]
synonym: "familial spondyloepiphyseal dysplasia" EXACT []
synonym: "spondyloperipheral dysplasia, short ulna" EXACT []
synonym: "spondyloperipheral dysplasia-short ulna syndrome" EXACT []
synonym: "spondyloperipheral dysplasia with short ulna" EXACT []
xref: MESH:C535799
xref: NCI:C135088
xref: ORDO:1856
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2256 ! osteochondrodysplasia
created_by: mtutaj
creation_date: 2020-11-06T09:20:20Z

[Term]
id: DOID:0112196
name: spondylometaepiphyseal dysplasia, short limb-hand type
alt_id: MIM:271665
def: "A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31406622/ "DO", https://pubmed.ncbi.nlm.nih.gov/8434618/ "DO"]
synonym: "SMED, Short Limb-Abnormal Calcification Type" EXACT []
synonym: "SMED, Short Limb-Hand Type" EXACT []
synonym: "SMED-SL" EXACT []
synonym: "SMED-SL/AC" EXACT []
synonym: "SMED type 2" EXACT []
synonym: "SMED Type II" EXACT []
synonym: "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome" EXACT []
synonym: "spondylometaepiphyseal dysplasia, short limb-abnormal calcification type" EXACT []
xref: GARD:10616
xref: MESH:C564794
xref: ORDO:93358
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
is_a: DOID:9007661 ! Dwarfism
created_by: mtutaj
creation_date: 2020-12-22T18:19:11Z

[Term]
id: DOID:0112197
name: spondyloepimetaphyseal dysplasia with joint laxity
def: "A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30358852/ "DO"]
synonym: "PRIMARY BONE DYSPLASIA WITH MULTIPLE JOINT DISLOCATIONS" EXACT []
synonym: "SEMDJL" EXACT []
xref: GARD:4982
xref: MESH:C562968
xref: MIM:PS271640
xref: ORDO:93359
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9003279 ! Joint Dislocations
is_a: DOID:9005077 ! Joint Instability
created_by: mtutaj
creation_date: 2020-12-22T18:24:11Z

[Term]
id: DOID:0112198
name: spondyloepimetaphyseal dysplasia with joint laxity type 1
def: "A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10482874/ "DO"]
synonym: "SEMDJL1" EXACT []
synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1, with fractures" NARROW []
synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1, with or without fractures" EXACT []
xref: MIM:271640
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112197 ! spondyloepimetaphyseal dysplasia with joint laxity
created_by: mtutaj
creation_date: 2020-12-22T18:29:11Z

[Term]
id: DOID:0112199
name: spondyloepimetaphyseal dysplasia with joint laxity type 2
alt_id: MIM:603546
def: "A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19277648/ "DO", https://pubmed.ncbi.nlm.nih.gov/22152677/ "DO"]
synonym: "KIF22-RELATED CONDITION" EXACT []
synonym: "SEMDJL2" EXACT []
synonym: "SEMD-MD" EXACT []
synonym: "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" EXACT []
synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Hall type" EXACT []
synonym: "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" EXACT []
synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations" EXACT []
synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" EXACT []
synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type" EXACT []
xref: MESH:C535784
xref: NCI:C125419
xref: ORDO:93360
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112197 ! spondyloepimetaphyseal dysplasia with joint laxity
created_by: mtutaj
creation_date: 2020-11-10T14:09:01Z

[Term]
id: DOID:0112200
name: spondyloepimetaphyseal dysplasia with joint laxity type 3
def: "A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26669664/ "DO"]
synonym: "SEMDJL3" EXACT []
xref: MIM:618395
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112197 ! spondyloepimetaphyseal dysplasia with joint laxity
created_by: mtutaj
creation_date: 2020-03-11T07:29:20Z

[Term]
id: DOID:0112201
name: osteogenesis imperfecta type 21
def: "An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33053334/ "DO"]
synonym: "OI21" EXACT []
synonym: "osteogenesis imperfecta type XXI" EXACT []
xref: MIM:619131
xref: MONDO:0030861
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12347 ! osteogenesis imperfecta
created_by: rgd
creation_date: 2017-10-19T15:03:51Z

[Term]
id: DOID:0112202
name: developmental and epileptic encephalopathy
def: "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28276062/ "DO", https://pubmed.ncbi.nlm.nih.gov/31926847/ "DO"]
synonym: "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH JOINT LAXITY" NARROW []
synonym: "KCNA3-ASSOCIATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY" NARROW []
synonym: "RYR3-RELATED CONDITION" BROAD []
synonym: "RYR3-RELATED EPILEPTIC ENCEPHALOPATHY" NARROW []
synonym: "TMEM63B-ASSOCIATED DISORDER" BROAD []
xref: MIM:PS308350
is_a: DOID:0050701 ! electroclinical syndrome
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0112203
name: developmental and epileptic encephalopathy 67
def: "A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29630738/ "DO"]
synonym: "DEE67" EXACT []
synonym: "early infantile epileptic encephalopathy 67" EXACT []
synonym: "EIEE67" EXACT []
xref: MIM:618141
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: slaulede
creation_date: 2018-10-11T10:53:07Z

[Term]
id: DOID:0112204
name: developmental and epileptic encephalopathy 68
def: "A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28364549/ "DO"]
synonym: "DEE68" EXACT []
synonym: "early infantile epileptic encephalopathy 68" EXACT []
synonym: "EIEE68" EXACT []
xref: MIM:618201
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0112205
name: developmental and epileptic encephalopathy 69
def: "A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30343943/ "DO"]
synonym: "CACNA1E-RELATED CONDITION" EXACT []
synonym: "DEE69" EXACT []
synonym: "early infantile epileptic encephalopathy 69" EXACT []
synonym: "EIEE69" EXACT []
xref: MIM:618285
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2020-08-17T09:48:43Z

[Term]
id: DOID:0112206
name: developmental and epileptic encephalopathy 70
def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30256902/ "DO"]
synonym: "DEE70" EXACT []
synonym: "early infantile epileptic encephalopathy 70" EXACT []
synonym: "EIEE70" EXACT []
xref: MIM:618298
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0112207
name: developmental and epileptic encephalopathy 71
def: "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30575854/ "DO"]
synonym: "DEE71" EXACT []
synonym: "early infantile epileptic encephalopathy 71" EXACT []
synonym: "EIEE71" EXACT []
synonym: "glutaminase deficiency with neonatal epileptic encephalopathy" EXACT []
xref: MIM:618328
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:11161 ! neonatal respiratory failure
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0112208
name: developmental and epileptic encephalopathy 72
def: "A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30323019/ "DO"]
synonym: "DEE72" EXACT []
synonym: "early infantile epileptic encephalopathy 72" EXACT []
synonym: "EIEE72" EXACT []
xref: MIM:618374
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0112209
name: developmental and epileptic encephalopathy 73
def: "A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30595371/ "DO"]
synonym: "DEE73" EXACT []
synonym: "early infantile epileptic encephalopathy 73" EXACT []
synonym: "EIEE73" EXACT []
xref: MIM:618379
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0112210
name: developmental and epileptic encephalopathy 74
def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27864268/ "DO"]
synonym: "DEE74" EXACT []
synonym: "early infantile epileptic encephalopathy 74" EXACT []
synonym: "EIEE74" EXACT []
synonym: "GABRG2-RELATED CONDITION" BROAD []
xref: MIM:618396
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T00:00:00Z

[Term]
id: DOID:0112211
name: developmental and epileptic encephalopathy 75
def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29915213/ "DO"]
synonym: "DEE75" EXACT []
synonym: "early infantile epileptic encephalopathy 75" EXACT []
synonym: "EIEE75" EXACT []
xref: MIM:618437
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T21:31:00Z

[Term]
id: DOID:0112212
name: developmental and epileptic encephalopathy 76
def: "A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31031012/ "DO"]
synonym: "ACTL6B-RELATED BAFOPATHY" BROAD []
synonym: "ACTL6B-RELATED RECESSIVE EPILEPSY" EXACT []
synonym: "DECAM" EXACT []
synonym: "DEE76" EXACT []
synonym: "developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination" EXACT []
synonym: "developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination" EXACT []
synonym: "early infantile epileptic encephalopathy 76" EXACT []
synonym: "EIEE76" EXACT []
xref: MIM:618468
xref: NCI:C179296
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T21:34:11Z

[Term]
id: DOID:0112213
name: multiple congenital anomalies-hypotonia-seizures syndrome 4
def: "A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31148362/ "DO", https://pubmed.ncbi.nlm.nih.gov/32588908/ "DO"]
synonym: "DEE77" EXACT []
synonym: "developmental and epileptic encephalopathy 77" EXACT []
synonym: "early infantile epileptic encephalopathy 77" EXACT []
synonym: "EIEE77" EXACT []
synonym: "glycosylphosphatidylinositol biosynthesis defect 19" EXACT []
synonym: "GPIBD19" EXACT []
synonym: "MCAHS4" EXACT []
xref: MIM:618548
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
created_by: mtutaj
creation_date: 2021-01-28T21:39:11Z

[Term]
id: DOID:0112214
name: developmental and epileptic encephalopathy 78
def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29422393/ "DO", https://pubmed.ncbi.nlm.nih.gov/29961870/ "DO"]
synonym: "DEE78" EXACT []
synonym: "early infantile epileptic encephalopathy 78" EXACT []
synonym: "EIEE78" EXACT []
synonym: "GABRA2-RELATED CONDITION" BROAD []
xref: MIM:618557
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T21:44:11Z

[Term]
id: DOID:0112215
name: developmental and epileptic encephalopathy 79
def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29961870/ "DO", https://pubmed.ncbi.nlm.nih.gov/31056671/ "DO"]
synonym: "DEE79" EXACT []
synonym: "early infantile epileptic encephalopathy 79" EXACT []
synonym: "EIEE79" EXACT []
xref: MIM:618559
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T21:48:11Z

[Term]
id: DOID:0112216
name: developmental and epileptic encephalopathy 80
def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31256876/ "DO"]
synonym: "DEE80" EXACT []
synonym: "early infantile epileptic encephalopathy 80" EXACT []
synonym: "EIEE80" EXACT []
synonym: "glycophosphatidylinositol biosynthesis defect 20" EXACT []
synonym: "glycosylphosphatidylinositol biosynthesis defect 20" EXACT []
synonym: "GPIBD20" EXACT []
xref: MIM:618580
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
created_by: mtutaj
creation_date: 2021-01-28T21:52:11Z

[Term]
id: DOID:0112217
name: developmental and epileptic encephalopathy 81
def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30237576/ "DO", https://pubmed.ncbi.nlm.nih.gov/31688942/ "DO"]
synonym: "DEE81" EXACT []
synonym: "early infantile epileptic encephalopathy 81" EXACT []
synonym: "EIEE81" EXACT []
xref: MIM:618663
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T21:56:11Z

[Term]
id: DOID:0112218
name: developmental and epileptic encephalopathy 83
def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31820119/ "DO"]
synonym: "Barakat-Perenthaler syndrome" EXACT []
synonym: "DEE83" EXACT []
synonym: "early infantile epileptic encephalopathy 83" EXACT []
synonym: "EIEE83" EXACT []
xref: MIM:618744
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T22:00:11Z

[Term]
id: DOID:0112219
name: developmental and epileptic encephalopathy 84
def: "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32001716/ "DO"]
synonym: "DEE84" EXACT []
synonym: "early infantile epileptic encephalopathy 84" EXACT []
synonym: "EIEE84" EXACT []
synonym: "Jamuar syndrome" EXACT []
xref: MIM:618792
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T22:04:11Z

[Term]
id: DOID:0112220
name: developmental and epileptic encephalopathy 86
def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32427860/ "DO"]
synonym: "DEE86" EXACT []
synonym: "early infantile epileptic encephalopathy 86" EXACT []
synonym: "EIEE86" EXACT []
xref: MIM:618910
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T22:07:11Z

[Term]
id: DOID:0112221
name: developmental and epileptic encephalopathy 87
def: "A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32330417/ "DO"]
synonym: "DEE87" EXACT []
synonym: "early infantile epileptic encephalopathy 87" EXACT []
synonym: "EIEE87" EXACT []
xref: MIM:618916
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T22:11:11Z

[Term]
id: DOID:0112222
name: developmental and epileptic encephalopathy 88
def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31538237/ "DO"]
synonym: "DEE88" EXACT []
synonym: "early infantile epileptic encephalopathy 88" EXACT []
synonym: "EIEE88" EXACT []
xref: MIM:618959
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T22:15:11Z

[Term]
id: DOID:0112223
name: developmental and epileptic encephalopathy 89
def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32282878/ "DO"]
synonym: "DEE89" EXACT []
synonym: "early infantile epileptic encephalopathy 89" EXACT []
xref: MIM:619124
is_a: DOID:0050709 ! early infantile epileptic encephalopathy
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-01-28T22:22:11Z

[Term]
id: DOID:0112224
name: chondrodysplasia with joint dislocations gPAPP type
def: "An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21549340/ "DO", https://pubmed.ncbi.nlm.nih.gov/22887726/ "DO"]
synonym: "GPAPP deficiency" EXACT []
xref: GARD:11009
xref: MIM:614078
xref: MONDO:0013561
xref: ORDO:280586
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9005077 ! Joint Instability
created_by: mtutaj
creation_date: 2020-01-30T13:07:42Z

[Term]
id: DOID:0112225
name: BH4-deficient hyperphenylalaninemia B
alt_id: MIM:233910
def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7869202/ "DO"]
synonym: "DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE" NARROW []
synonym: "GTP cyclohydrolase 1 deficiency" EXACT []
synonym: "GTP Cyclohydrolase I Deficiency" EXACT []
synonym: "HPABH4B" EXACT []
synonym: "tetrahydrobiopterin-deficient hyperphenylalaninemia B" EXACT []
synonym: "tetrahydrobiopterin-deficient hyperphenylalaninemia due to GTP cyclohydrolase I deficiency" EXACT []
xref: MESH:C562656
xref: NCI:C141442
xref: ORDO:2102
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia
is_a: DOID:9281 ! phenylketonuria
created_by: mtutaj
creation_date: 2021-01-28T22:30:11Z

[Term]
id: DOID:0112226
name: Bosch-Boonstra-Schaaf optic atrophy syndrome
alt_id: DOID:9002038
def: "A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24462372/ "DO"]
synonym: "BBSOAS" EXACT []
synonym: "Bosch-Boonstra optic atrophy syndrome" RELATED []
synonym: "optic atrophy-intellectual disability syndrome" EXACT []
xref: MIM:615722
xref: ORDO:401777
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050888 ! syndromic intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9005850 ! Hereditary Optic Atrophies
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2020-02-18T11:48:34Z

[Term]
id: DOID:0112227
name: tubulinopathy
def: "A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24860126/ "DO", https://pubmed.ncbi.nlm.nih.gov/31386652/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO"]
xref: EFO:0020030
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:2490 ! congenital nervous system abnormality
created_by: mtutaj
creation_date: 2021-03-29T00:00:00Z

[Term]
id: DOID:0112228
name: lissencephaly 9 with complex brainstem malformation
alt_id: DOID:9005346
def: "A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24507697/ "DO", https://pubmed.ncbi.nlm.nih.gov/30471716/ "DO"]
synonym: "LIS9" EXACT []
synonym: "lissencephaly 9" EXACT []
synonym: "LISSENCEPHALY WITH BRAINSTEM HYPOPLASIA" EXACT []
synonym: "lissencephaly with decussation defect" EXACT []
synonym: "MACF1-RELATED CONDITION" EXACT []
synonym: "posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome" EXACT []
synonym: "SPECTRAPLAKINOPATHY TYPE I" EXACT []
xref: MIM:618325
xref: ORDO:572013
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0050736 ! autosomal dominant disease
created_by: mtutaj
creation_date: 2021-03-29T00:00:00Z

[Term]
id: DOID:0112229
name: lissencephaly 10
alt_id: DOID:9006184
def: "A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32097630/ "DO"]
synonym: "LIS10" EXACT []
xref: MIM:618873
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0050736 ! autosomal dominant disease
created_by: mtutaj
creation_date: 2021-03-29T19:36:11Z

[Term]
id: DOID:0112230
name: lissencephaly 5
alt_id: DOID:9004164
def: "A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23472759/ "DO", https://pubmed.ncbi.nlm.nih.gov/25925986/ "DO"]
synonym: "LAMB1-RELATED CONDITION" EXACT []
synonym: "LIS5" EXACT []
xref: MIM:615191
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0050737 ! autosomal recessive disease
created_by: mtutaj
creation_date: 2021-03-29T19:39:11Z

[Term]
id: DOID:0112231
name: lissencephaly 7 with cerebellar hypoplasia
alt_id: DOID:9002648
def: "A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25560765/ "DO"]
synonym: "LIS7" EXACT []
xref: MIM:616342
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070338 ! cerebellar hypoplasia
created_by: mtutaj
creation_date: 2021-03-29T19:42:11Z

[Term]
id: DOID:0112232
name: lissencephaly 3
alt_id: DOID:9000102
alt_id: MIM:611603
def: "A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17218254/ "DO", https://pubmed.ncbi.nlm.nih.gov/30744660/ "DO"]
synonym: "LIS3" EXACT []
synonym: "LISSENCEPHALY DUE TO TUBA1A MUTATION" EXACT []
synonym: "LISSENCEPHALY TYPE 3" EXACT []
synonym: "TUBA1A-ASSOCIATED TUBULINOPATHY" EXACT []
synonym: "TUBA1A-RELATED CONDITION" EXACT []
synonym: "TUBULINOPATHIES" BROAD []
synonym: "TUBULINOPATHY" BROAD []
synonym: "TUBULINOPATHY-ASSOCIATED DYSGYRIA" EXACT []
xref: MESH:C566908
xref: NCI:C148461
xref: ORDO:171680
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
created_by: mtutaj
creation_date: 2021-03-29T19:45:11Z

[Term]
id: DOID:0112233
name: lissencephaly 8
alt_id: DOID:9003247
def: "A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27773428/ "DO"]
synonym: "LIS8" EXACT []
xref: MIM:617255
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0050737 ! autosomal recessive disease
created_by: mtutaj
creation_date: 2021-03-29T19:49:11Z

[Term]
id: DOID:0112234
name: microlissencephaly
def: "A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9588537/ "DO"]
synonym: "microlissencephalies" EXACT []
xref: ORDO:1083
is_a: DOID:0050453 ! lissencephaly
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:0112235
name: lissencephaly 4
alt_id: DOID:9008921
def: "A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21529751/ "DO", https://pubmed.ncbi.nlm.nih.gov/21529752/ "DO"]
synonym: "LIS4" EXACT []
synonym: "lissencephaly 4 with microcephaly" EXACT []
xref: MIM:614019
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112234 ! microlissencephaly
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
created_by: mtutaj
creation_date: 2021-03-29T20:01:11Z

[Term]
id: DOID:0112236
name: lissencephaly 6
alt_id: DOID:9008089
def: "A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25521378/ "DO", https://pubmed.ncbi.nlm.nih.gov/25521379/ "DO"]
synonym: "KATNB1-RELATED CONDITION" EXACT []
synonym: "LIS6" EXACT []
synonym: "lissencephaly 6 with microcephaly" EXACT []
xref: MIM:616212
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112234 ! microlissencephaly
is_a: DOID:10907 ! microcephaly
created_by: mtutaj
creation_date: 2021-03-29T00:00:00Z

[Term]
id: DOID:0112237
name: lissencephaly 1
def: "A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11754098/ "DO", https://pubmed.ncbi.nlm.nih.gov/12668601/ "DO"]
synonym: "ILS" EXACT []
synonym: "LIS1" EXACT []
synonym: "LISSENCEPHALY, CLASSIC" EXACT []
synonym: "LISSENCEPHALY SEQUENCE, ISOLATED" EXACT []
synonym: "PAFAH1B1-ASSOCIATED LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA" BROAD []
synonym: "PAFAH1B1-RELATED CONDITION" BROAD []
synonym: "PAFAH1B1-related lissencephaly" EXACT []
synonym: "SBH" RELATED []
synonym: "SCLH" RELATED []
synonym: "SUBCORTICAL BAND HETEROTOPIA" RELATED []
synonym: "SUBCORTICAL LAMINAR HETEROTOPIA" RELATED []
xref: MIM:607432
xref: ORDO:95232
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0050736 ! autosomal dominant disease
created_by: rgd
creation_date: 2015-06-18T00:00:00Z

[Term]
id: DOID:0112238
name: X-linked lissencephaly 2
alt_id: DOID:9006520
alt_id: MIM:300215
def: "A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11891829/ "DO", https://pubmed.ncbi.nlm.nih.gov/12379852/ "DO"]
synonym: "hydranencephaly and abnormal genitalia" EXACT []
synonym: "hydranencephaly with abnormal genitalia" EXACT []
synonym: "LISX2" EXACT []
synonym: "XLAG" EXACT []
synonym: "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" EXACT []
synonym: "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" EXACT []
synonym: "X-linked lissencephaly with abnormal genitalia" EXACT []
synonym: "X-linked lissencephaly with ambiguous genitalia" EXACT []
synonym: "XLIS2" EXACT []
synonym: "XLISG" EXACT []
xref: MESH:C564563
xref: ORDO:452
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9008500 ! Classical Lissencephalies and Subcortical Band Heterotopias
created_by: mtutaj
creation_date: 2021-03-29T21:07:11Z

[Term]
id: DOID:0112239
name: X-linked lissencephaly 1
def: "A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9132485/ "DO", https://pubmed.ncbi.nlm.nih.gov/9489699/ "DO"]
synonym: "lissencephalies type 1" EXACT []
synonym: "Lissencephaly 1" EXACT []
synonym: "Lissencephaly Type 1" EXACT []
synonym: "lissencephaly type 1 due to doublecortin gene mutation" EXACT []
synonym: "LISX1" EXACT []
synonym: "XLIS1" EXACT []
xref: MIM:300067
is_a: DOID:9008500 ! Classical Lissencephalies and Subcortical Band Heterotopias
created_by: mtutaj
creation_date: 2021-03-29T21:11:11Z

[Term]
id: DOID:0112240
name: Leber congenital amaurosis with early-onset deafness
alt_id: DOID:9009120
def: "A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29198720/ "DO"]
synonym: "LCAEOD" EXACT []
xref: MIM:617879
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:14791 ! Leber congenital amaurosis
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:0112241
name: multiple benign circumferential skin creases on limbs
alt_id: DOID:9002281
def: "A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26637975/ "DO"]
synonym: "CCSF" EXACT []
synonym: "CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE" EXACT []
synonym: "congenital circumferential skin folds" EXACT []
synonym: "Congenital Symmetric Circumferential Skin Creases" EXACT []
synonym: "Kunze Riehm syndrome" EXACT []
synonym: "Michelin Tire Baby Syndrome" EXACT []
synonym: "multiple benign ring-shaped skin creases of limbs" EXACT []
xref: GARD:3589
xref: MESH:C537575
xref: MIM:PS156610
xref: ORDO:2505
is_a: DOID:1059 ! intellectual disability
is_a: DOID:3144 ! cutis laxa
is_a: DOID:674 ! cleft palate
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007253 ! Hamartoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:0112242
name: congenital symmetric circumferential skin creases 1
alt_id: DOID:9005935
def: "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26637975/ "DO"]
synonym: "CSCSC1" NARROW []
synonym: "TUBB-RELATED CONDITION" BROAD []
xref: MIM:156610
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112241 ! multiple benign circumferential skin creases on limbs
created_by: mtutaj
creation_date: 2021-03-29T21:24:11Z

[Term]
id: DOID:0112243
name: congenital symmetric circumferential skin creases 2
alt_id: DOID:9008922
def: "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26637975/ "DO"]
synonym: "CSCSC2" EXACT []
xref: MIM:616734
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112241 ! multiple benign circumferential skin creases on limbs
created_by: mtutaj
creation_date: 2021-03-29T21:29:11Z

[Term]
id: DOID:0112244
name: alopecia, neurologic defects, and endocrinopathy syndrome
alt_id: DOID:9003428
alt_id: MIM:612079
def: "A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18439547/ "DO"]
synonym: "alopecia-progressive neurological defect-endocrinopathy syndrome" EXACT []
synonym: "ANES" EXACT []
synonym: "ANE Syndrome" EXACT []
xref: MESH:C567425
xref: ORDO:157954
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:28 ! endocrine system disease
is_a: DOID:987 ! alopecia
created_by: mtutaj
creation_date: 2021-03-29T21:33:11Z

[Term]
id: DOID:0112245
name: focal segmental glomerulosclerosis 3
alt_id: DOID:9000237
def: "A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12764198/ "DO"]
synonym: "CD2AP-RELATED CONDITION" EXACT []
synonym: "focal segmental glomerulosclerosis 3, susceptibility to" RELATED []
synonym: "FSGS3" EXACT []
xref: MIM:607832
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:1312 ! focal segmental glomerulosclerosis
created_by: mtutaj
creation_date: 2021-03-29T21:36:11Z

[Term]
id: DOID:0112246
name: glutaric acidemia type 3
alt_id: DOID:9004214
alt_id: MIM:231690
def: "A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23893049/ "DO"]
synonym: "GA3" EXACT []
synonym: "GA III" EXACT []
synonym: "glutaric aciduria 3" EXACT []
synonym: "Glutaric Aciduria III" EXACT []
synonym: "glutaric aciduria type 3" EXACT []
synonym: "Glutaryl-CoA Oxidase Deficiency" EXACT []
xref: GARD:12469
xref: MESH:C562818
xref: ORDO:35706
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9009132 ! Glutaric Aciduria
is_a: DOID:906 ! peroxisomal disease
created_by: mtutaj
creation_date: 2021-03-29T21:40:11Z

[Term]
id: DOID:0112247
name: congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
alt_id: DOID:9003115
def: "A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27479907/ "DO", https://pubmed.ncbi.nlm.nih.gov/29021403/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK536784/ "DO"]
synonym: "CDK13-Related CHDFIDD" EXACT []
synonym: "CDK13-RELATED CONDITION" EXACT []
synonym: "CDK13-Related Disorder" EXACT []
synonym: "CHDFIDD" EXACT []
xref: MIM:617360
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2021-03-29T21:44:11Z

[Term]
id: DOID:0112248
name: 17-beta hydroxysteroid dehydrogenase 3 deficiency
alt_id: DOID:9005168
def: "A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. (DO)" [https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/ "DO", https://pubmed.ncbi.nlm.nih.gov/11158067/ "DO", https://pubmed.ncbi.nlm.nih.gov/8550739/ "DO"]
synonym: "17-alpha ketosteroid reductase deficiency of testis" EXACT []
synonym: "17-beta-hydroxysteroid dehydrogenase deficiency" EXACT []
synonym: "17-Beta Hydroxysteroid Dehydrogenase III Deficiency" EXACT []
synonym: "17-Hydroxysteroid Dehydrogenase Deficiency" EXACT []
synonym: "17-ketoreductase deficiency" EXACT []
synonym: "17-ketosteroidreductase deficiency" EXACT []
synonym: "17-Ketosteroid Reductase Deficiency Of Testis" EXACT []
synonym: "17-Ksr Deficiency" EXACT []
synonym: "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT []
synonym: "Male pseudohermaphroditism with gynecomastia" EXACT []
synonym: "neutral 17-beta-hydroxysteroid oxidoreductase deficiency" EXACT []
synonym: "PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY" NARROW []
synonym: "TESTOSTERONE 17-BETA-DEHYDROGENASE DEFICIENCY" RELATED []
xref: GARD:5659
xref: MESH:C537805
xref: MIM:264300
xref: MONDO:0009916
xref: NCI:C120203
xref: ORDO:752
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12698 ! gynecomastia
is_a: DOID:1701 ! steroid inherited metabolic disorder
is_a: DOID:3765 ! pseudohermaphroditism
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development
created_by: mtutaj
creation_date: 2021-03-29T21:54:11Z

[Term]
id: DOID:0112249
name: GAPO syndrome
alt_id: DOID:9008322
alt_id: MIM:230740
def: "A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25045128/ "DO", https://pubmed.ncbi.nlm.nih.gov/6507471/ "DO"]
synonym: "GAPOS" EXACT []
synonym: "growth delay-alopecia-pseudoanodontia-optic atrophy syndrome" EXACT []
synonym: "Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy" EXACT []
synonym: "Odontotrichomelic Syndrome" EXACT []
synonym: "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" EXACT []
xref: MESH:C535642
xref: ORDO:2067
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13714 ! anodontia
is_a: DOID:225 ! syndrome
is_a: DOID:9005850 ! Hereditary Optic Atrophies
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:987 ! alopecia
created_by: mtutaj
creation_date: 2021-03-29T21:57:11Z

[Term]
id: DOID:0112250
name: Gaucher's disease type IIIC
alt_id: DOID:9007825
alt_id: MIM:231005
def: "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10636167/ "DO"]
synonym: "cardiovascular Gaucher disease" EXACT []
synonym: "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" EXACT []
synonym: "Gaucher disease type 3C" EXACT []
synonym: "Gaucher Disease, Type IIIc" EXACT []
synonym: "GD3C" EXACT []
xref: MESH:C565553
xref: ORDO:2072
is_a: DOID:0110959 ! Gaucher's disease type III
created_by: mtutaj
creation_date: 2021-03-29T22:00:11Z

[Term]
id: DOID:0112251
name: Ghosal hematodiaphyseal syndrome
alt_id: DOID:9003776
alt_id: MIM:231095
def: "A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34. (DO)" [https://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/18264100/ "DO", https://pubmed.ncbi.nlm.nih.gov/3385529/ "DO"]
synonym: "diaphyseal dysplasia-anemia syndrome" EXACT []
synonym: "GHDD" EXACT []
synonym: "Ghosal Hematodiaphyseal Dysplasia" EXACT []
synonym: "Ghosal Syndrome" EXACT []
synonym: "TBXAS1-RELATED CONDITION" EXACT []
xref: GARD:10297
xref: MESH:C565551
xref: ORDO:1802
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9000300 ! Refractory Anemia
created_by: mtutaj
creation_date: 2021-03-29T21:03:11Z

[Term]
id: DOID:0112252
name: glutathione synthetase deficiency of erythrocytes
alt_id: DOID:9006583
alt_id: MIM:231900
def: "A glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/5476481/ "DO", https://pubmed.ncbi.nlm.nih.gov/659603/ "DO", https://pubmed.ncbi.nlm.nih.gov/8896573/ "DO"]
synonym: "glutathione synthetase deficiency without 5-oxoprolinuria" EXACT []
synonym: "GSSDE" EXACT []
synonym: "hemolytic anemia due to glutathione synthetase deficiency" EXACT []
synonym: "hemolytic anemia due to glutathione synthetase deficiency of erythrocytes" EXACT []
xref: MESH:C565545
xref: ORDO:289849
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080699 ! glutathione synthetase deficiency
is_a: DOID:583 ! hemolytic anemia
created_by: mtutaj
creation_date: 2021-03-29T21:06:11Z

[Term]
id: DOID:0112253
name: combined cellular and humoral immune defects with granulomas
alt_id: DOID:9008188
alt_id: MIM:233650
def: "A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18463379/ "DO"]
synonym: "CCHIDG" EXACT []
synonym: "CID due to RAG 1/2 deficiency" EXACT []
synonym: "combined immunodeficiency due to RAG 1/2 deficiency" EXACT []
synonym: "combined immunodeficiency with granulomatosis" EXACT []
synonym: "COMBINED IMMUNODEFICIENCY WITH SKIN GRANULOMAS" EXACT []
xref: GARD:13587
xref: MESH:C567115
xref: ORDO:157949
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111962 ! combined immunodeficiency
is_a: DOID:3265 ! chronic granulomatous disease
created_by: mtutaj
creation_date: 2021-03-29T21:09:11Z

[Term]
id: DOID:0112254
name: hepatic venoocclusive disease with immunodeficiency
alt_id: DOID:9008664
alt_id: MIM:235550
def: "A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. (DO)" [https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency/ "DO", https://pubmed.ncbi.nlm.nih.gov/16648851/ "DO"]
synonym: "Familial Veno-Occlusive Disease with Immunodeficiency" EXACT []
synonym: "hepatic veno-occlusive disease-immunodeficiency syndrome" EXACT []
synonym: "Hepatic Veno-Occlusive Disease with Immunodeficiency" EXACT []
synonym: "Veno-Occlusive Disease and Immunodeficiency Syndrome" EXACT []
synonym: "VODI" EXACT []
xref: GARD:10083
xref: MESH:C537257
xref: ORDO:79124
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080177 ! hepatic veno-occlusive disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2021-03-29T21:13:11Z

[Term]
id: DOID:0112255
name: homocystinuria-megaloblastic anemia cblE type
alt_id: DOID:9005758
alt_id: MIM:236270
def: "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3384945/ "DO"]
synonym: "functional methionine synthase deficiency type cblE" EXACT []
synonym: "HMAE" EXACT []
synonym: "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE" EXACT []
synonym: "Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type" EXACT []
synonym: "Methylcobalamin Deficiency, CblE Type" EXACT []
synonym: "Vitamin B12-Responsive Homocystinuria, CblE Type" EXACT []
xref: MESH:C565510
xref: NCI:C142173
xref: ORDO:2169
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:13382 ! megaloblastic anemia
is_a: DOID:9263 ! homocystinuria
created_by: mtutaj
creation_date: 2021-03-29T21:17:11Z

[Term]
id: DOID:0112256
name: homocystinuria-megaloblastic anemia cblG type
def: "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3384945/ "DO", https://pubmed.ncbi.nlm.nih.gov/8968737/ "DO"]
synonym: "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type" EXACT []
synonym: "methylcobalamin deficiency, cblG type" EXACT []
xref: GARD:3577
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2021-03-29T21:20:11Z

[Term]
id: DOID:0112257
name: hydroxykynureninuria
alt_id: DOID:9002475
alt_id: MIM:236800
def: "An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17334708/ "DO"]
synonym: "kynureninase deficiency" EXACT []
synonym: "KYNURENINASE DEFICIENCY, PARTIAL" EXACT []
synonym: "xanthurenic aciduria" EXACT []
xref: GARD:10039
xref: MESH:C536081
xref: ORDO:79155
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2021-03-29T22:30:11Z

[Term]
id: DOID:0112258
name: N-acetylglutamate synthase deficiency
alt_id: DOID:9005654
alt_id: MIM:237310
def: "A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12594532/ "DO", https://pubmed.ncbi.nlm.nih.gov/3139931/ "DO"]
synonym: "hyperammonemia due to N-acetylglutamate synthase deficiency" EXACT []
synonym: "Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency" EXACT []
synonym: "N-Acetyl Glutamate Synthetase Deficiency" EXACT []
synonym: "N-Acetylglutamate Synthetase Deficiency" EXACT []
synonym: "NAGSD" EXACT []
synonym: "NAGS deficiency" EXACT []
synonym: "NAG synthetase deficiency" EXACT []
xref: GARD:7158
xref: MESH:C536109
xref: NCI:C129307
xref: ORDO:927
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9267 ! urea cycle disorder
created_by: mtutaj
creation_date: 2021-03-29T22:34:11Z

[Term]
id: DOID:0112259
name: Leydig cell hypoplasia
alt_id: DOID:9001157
alt_id: MIM:238320
def: "A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3. (DO)" [https://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/7719343/ "DO"]
synonym: "46,XY Disorder of Sex Development Due To LH Defects" EXACT []
synonym: "46,XY disorder of sex development due to LH resistance or LHB deficiency" EXACT []
synonym: "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT []
synonym: "46,XY DSD due to LH resistance or LHB deficiency" EXACT []
synonym: "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT []
synonym: "Leydig Cell Agenesis" EXACT []
synonym: "Leydig Cell Hypoplasia with Male Pseudohermaphroditism" EXACT []
synonym: "LH Resistance Due To LH Receptor Deactivation" EXACT []
synonym: "LUTEINIZING HORMONE RESISTANCE, FEMALE" NARROW []
synonym: "Male Hypergonadotropic Hypogonadism Due To LHCGR Defect" EXACT []
xref: GARD:3244
xref: MESH:C562567
xref: ORDO:755
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3765 ! pseudohermaphroditism
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development
created_by: mtutaj
creation_date: 2021-03-29T22:42:11Z

[Term]
id: DOID:0112260
name: Leydig cell hypoplasia type I
def: "A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10714363/ "DO", https://pubmed.ncbi.nlm.nih.gov/11041448/ "DO"]
synonym: "46,XY disorder of sex development due to complete LH receptor inactivation" EXACT []
synonym: "46,XY disorder of sex development due to complete LH resistance" EXACT []
synonym: "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation" EXACT []
synonym: "46,XY disorder of sex development due to complete luteinizing hormone resistance" EXACT []
synonym: "46,XY DSD due to complete LH receptor inactivation" EXACT []
synonym: "46,XY DSD due to complete LH resistance" EXACT []
synonym: "46,XY DSD due to complete luteinizing hormone receptor inactivation" EXACT []
synonym: "46,XY DSD due to complete luteinizing hormone resistance" EXACT []
synonym: "Leydig Cell Hypoplasia, Complete" EXACT []
synonym: "Leydig cell hypoplasia due to complete LH receptor inactivation" EXACT []
synonym: "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation" EXACT []
synonym: "Leydig cell hypoplasia due to complete luteinizing hormone resistance" EXACT []
synonym: "Leydig Cell Hypoplasia, Type 1" EXACT []
synonym: "LEYDIG HYPOPLASIA, TYPE I" EXACT []
xref: ORDO:96265
is_a: DOID:0112259 ! Leydig cell hypoplasia
created_by: mtutaj
creation_date: 2021-03-29T23:32:11Z

[Term]
id: DOID:0112261
name: Leydig cell hypoplasia type II
def: "A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11041448/ "DO"]
synonym: "46,XY disorder of sex development due to partial LH receptor inactivation" EXACT []
synonym: "46,XY disorder of sex development due to partial LH resistance" EXACT []
synonym: "46,XY disorder of sex development due to partial luteinizing hormone resistance" EXACT []
synonym: "46,XY DSD due to partial LH receptor inactivation" EXACT []
synonym: "46,XY DSD due to partial LH resistance" EXACT []
synonym: "46,XY DSD due to partial luteinizing hormone resistance" EXACT []
synonym: "Leydig cell hypoplasia due to partial LH receptor inactivation" EXACT []
synonym: "Leydig cell hypoplasia due to partial LH resistance" EXACT []
synonym: "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation" EXACT []
synonym: "Leydig cell hypoplasia due to partial luteinizing hormone resistance" EXACT []
synonym: "LEYDIG CELL HYPOPLASIA, PARTIAL" EXACT []
xref: ORDO:96266
is_a: DOID:0112259 ! Leydig cell hypoplasia
created_by: mtutaj
creation_date: 2021-03-29T23:36:11Z

[Term]
id: DOID:0112262
name: leucine-sensitive hypoglycemia of infancy
alt_id: DOID:9004440
alt_id: MIM:240800
def: "An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15356046/ "DO"]
synonym: "leucine-induced hypoglycemia" EXACT []
synonym: "LIH" EXACT []
xref: EFO:0006856
xref: GARD:9915
xref: MESH:C537150
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9252 ! amino acid metabolic disorder
is_a: DOID:9993 ! hypoglycemia
created_by: mtutaj
creation_date: 2021-03-29T23:41:11Z

[Term]
id: DOID:0112263
name: hypoinsulinemic hypoglycemia with hemihypertrophy
alt_id: DOID:9001032
def: "An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21979934/ "DO"]
synonym: "HIHGHH" EXACT []
synonym: "hypoinsulinemic hypoglycemia and body hemihypertrophy" EXACT []
synonym: "HYPOINSULINEMIC HYPOGLYCEMIA AND HEMIHYPERTROPHY" EXACT []
xref: MIM:240900
xref: ORDO:293964
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9006378 ! Facial Hemihypertrophy
is_a: DOID:9993 ! hypoglycemia
created_by: mtutaj
creation_date: 2021-03-29T23:45:11Z

[Term]
id: DOID:0112264
name: Woodhouse-Sakati syndrome
alt_id: DOID:9007524
def: "A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. (DO)" [https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/19026396/ "DO", https://pubmed.ncbi.nlm.nih.gov/6876115/ "DO"]
synonym: "diabetes-hypogonadism-deafness-intellectual disability syndrome" EXACT []
synonym: "diabetes-hypogonadism-hearing loss-intellectual disability syndrome" EXACT []
synonym: "hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome" EXACT []
synonym: "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome" EXACT []
synonym: "progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia" EXACT []
synonym: "progressive extrapyramidal disorder with primary hypogonadism, mental retardation, and alopecia" EXACT []
synonym: "WDSKS" EXACT []
synonym: "WSS" EXACT []
xref: GARD:5592
xref: MESH:C536742
xref: MIM:241080
xref: MONDO:0009419
xref: ORDO:3464
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:679 ! basal ganglia disease
is_a: DOID:9000064 ! Cardiac Arrhythmias
is_a: DOID:9351 ! diabetes mellitus
is_a: DOID:987 ! alopecia
created_by: mtutaj
creation_date: 2021-03-29T23:49:11Z

[Term]
id: DOID:0112265
name: iminoglycinuria
alt_id: DOID:9007948
alt_id: MIM:242600
def: "A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19033659/ "DO"]
xref: GARD:8424
xref: MESH:C536285
xref: ORDO:42062
is_a: DOID:0080578 ! digenic disease
is_a: DOID:447 ! renal tubular transport disease
created_by: mtutaj
creation_date: 2021-03-29T23:53:11Z

[Term]
id: DOID:0112266
name: nephrotic syndrome type 23
alt_id: DOID:9005998
def: "A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31472902/ "DO"]
synonym: "KIRREL1-RELATED CONDITION" EXACT []
synonym: "NPHS23" EXACT []
xref: MIM:619201
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome
created_by: mtutaj
creation_date: 2021-03-29T23:56:11Z

[Term]
id: DOID:0112267
name: nephrotic syndrome type 21
alt_id: DOID:9001780
def: "A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29058690/ "DO"]
synonym: "NPHS21" EXACT []
xref: MIM:618594
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome
created_by: mtutaj
creation_date: 2021-03-29T23:59:11Z

[Term]
id: DOID:0112268
name: nephrotic syndrome type 22
alt_id: DOID:9006110
def: "A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33523862/ "DO"]
synonym: "NPHS22" EXACT []
xref: MIM:619155
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2590 ! familial nephrotic syndrome
created_by: mtutaj
creation_date: 2021-03-30T00:03:11Z

[Term]
id: DOID:0112269
name: primary ovarian insufficiency 18
alt_id: DOID:9002167
def: "A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33508233/ "DO"]
synonym: "POF18" EXACT []
synonym: "premature ovarian failure 18" EXACT []
xref: MIM:619203
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-03-30T07:58:11Z

[Term]
id: DOID:0112270
name: spermatogenic failure 52
alt_id: DOID:9008964
def: "A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33508233/ "DO"]
synonym: "SPGF52" EXACT []
xref: MIM:619202
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia
created_by: mtutaj
creation_date: 2021-03-30T08:01:11Z

[Term]
id: DOID:0112271
name: spermatogenic failure 49
alt_id: DOID:9003200
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32791035/ "DO"]
synonym: "SPGF49" EXACT []
synonym: "SPGF98" EXACT []
xref: MIM:619144
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2021-03-30T08:06:11Z

[Term]
id: DOID:0112272
name: spermatogenic failure 50
alt_id: DOID:9006198
def: "A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30042186/ "DO"]
synonym: "SPGF50" EXACT []
xref: MIM:619145
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia
created_by: mtutaj
creation_date: 2021-03-30T08:09:11Z

[Term]
id: DOID:0112273
name: spermatogenic failure 51
alt_id: DOID:9008842
def: "A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32161152/ "DO"]
synonym: "SPGF51" EXACT []
xref: MIM:619177
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2021-03-30T08:12:11Z

[Term]
id: DOID:0112274
name: X-linked spermatogenic failure 3
alt_id: DOID:9007466
def: "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33472045/ "DO"]
synonym: "SPGFX3" EXACT []
xref: MIM:301059
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:0112275
name: developmental and epileptic encephalopathy 93
alt_id: DOID:9008555
def: "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29668857/ "DO"]
synonym: "DEE93" EXACT []
synonym: "IECEE3" EXACT []
synonym: "infantile or early childhood epileptic encephalopathy 3" EXACT []
xref: MIM:618012
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2021-04-29T22:14:36Z

[Term]
id: DOID:0112276
name: neurodevelopmental disorder with involuntary movements
alt_id: DOID:9001978
def: "A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27068059/ "DO", https://pubmed.ncbi.nlm.nih.gov/28357411/ "DO"]
synonym: "GNAO1-RELATED CONDITION" BROAD []
synonym: "NEDIM" EXACT []
xref: MIM:617493
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:480 ! movement disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2021-04-29T22:16:35Z

[Term]
id: DOID:0112277
name: immunodeficiency 79
def: "A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31781092/ "DO", https://pubmed.ncbi.nlm.nih.gov/33471124/ "DO"]
synonym: "IMD79" EXACT []
xref: MIM:619238
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11200 ! T cell deficiency
created_by: mtutaj
creation_date: 2021-04-29T22:19:01Z

[Term]
id: DOID:0112278
name: primary ovarian insufficiency 19
alt_id: DOID:9000665
def: "A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32845237/ "DO"]
synonym: "POF19" EXACT []
synonym: "POI19" EXACT []
synonym: "premature ovarian failure 19" EXACT []
xref: MIM:619245
xref: MONDO:0030985
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2021-04-29T22:22:42Z

[Term]
id: DOID:0112279
name: spermatogenic failure 53
alt_id: DOID:9008411
def: "A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33626338/ "DO"]
synonym: "SPGF53" EXACT []
xref: MIM:619258
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2021-04-29T22:25:15Z

[Term]
id: DOID:0112280
name: spondyloepiphyseal dysplasia
def: "An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. (DO)" [https://emedicine.medscape.com/article/1260836-overview "DO", https://pubmed.ncbi.nlm.nih.gov/16080123/ "DO"]
synonym: "SED" EXACT []
xref: GARD:7687
xref: MONDO:0016761
xref: ORDO:253
is_a: DOID:2256 ! osteochondrodysplasia
created_by: mtutaj
creation_date: 2021-04-29T17:38:06Z

[Term]
id: DOID:0112281
name: spondyloepiphyseal dysplasia Stanescu type
alt_id: DOID:9004463
def: "A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26183434/ "DO", https://pubmed.ncbi.nlm.nih.gov/6430256/ "DO", https://pubmed.ncbi.nlm.nih.gov/9592900/ "DO"]
synonym: "SED, STANESCU TYPE" EXACT []
synonym: "SEDSTN" EXACT []
synonym: "Stanescu type of spondyloepiphyseal dysplasia" EXACT []
xref: MIM:616583
xref: ORDO:459051
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia
created_by: mtutaj
creation_date: 2021-04-29T22:28:17Z

[Term]
id: DOID:0112282
name: spondyloepiphyseal dysplasia Kimberley type
alt_id: DOID:9002341
alt_id: MIM:608361
def: "A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16080123/ "DO", https://pubmed.ncbi.nlm.nih.gov/1978986/ "DO"]
synonym: "SEDK" EXACT []
xref: MESH:C564252
xref: ORDO:93283
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia
created_by: mtutaj
creation_date: 2021-04-29T22:30:13Z

[Term]
id: DOID:0112283
name: spondyloepiphyseal dysplasia Kondo-Fu type
alt_id: DOID:9003246
def: "A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30046013/ "DO"]
synonym: "SEDKF" EXACT []
synonym: "SED with elevated blood lysosomal enzymes" EXACT []
xref: EFO:0010168
xref: MIM:618392
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia
created_by: mtutaj
creation_date: 2021-04-29T22:32:04Z

[Term]
id: DOID:0112284
name: spondyloepiphyseal dysplasia tarda
def: "A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth. (DO)" [https://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda/ "DO", https://pubmed.ncbi.nlm.nih.gov/3213464/ "DO"]
xref: ORDO:93284
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia
created_by: mtutaj
creation_date: 2021-04-29T19:04:40Z

[Term]
id: DOID:0112285
name: autosomal dominant spondyloepiphyseal dysplasia tarda
alt_id: DOID:9007036
alt_id: MIM:184100
def: "A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1353665/ "DO", https://pubmed.ncbi.nlm.nih.gov/3213464/ "DO"]
xref: GARD:10624
xref: MESH:C566658
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda
created_by: mtutaj
creation_date: 2021-04-29T22:34:15Z

[Term]
id: DOID:0112286
name: spondyloepiphyseal dysplasia with punctate corneal dystrophy
alt_id: DOID:9000649
alt_id: MIM:183850
def: "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/414988/ "DO"]
xref: MESH:C566660
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia
is_a: DOID:2566 ! corneal dystrophy
created_by: mtutaj
creation_date: 2021-04-29T22:36:28Z

[Term]
id: DOID:0112287
name: spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
alt_id: DOID:9005310
alt_id: MIM:611717
def: "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17515304/ "DO"]
synonym: "Fantasy Island Syndrome" EXACT []
synonym: "SED-BDS" EXACT []
synonym: "SED-brachydactyly and distinctive speech" EXACT []
synonym: "spondyloepiphyseal dysplasia, Cantu type" EXACT []
synonym: "Tattoo Dysplasia" EXACT []
xref: GARD:10629
xref: MESH:C567128
xref: ORDO:163654
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia
created_by: mtutaj
creation_date: 2021-04-29T22:38:37Z

[Term]
id: DOID:0112288
name: spondyloepiphyseal dysplasia Nishimura type
alt_id: DOID:9007564
def: "A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30804514/ "DO"]
synonym: "SEDN" EXACT []
synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA MIR140 TYPE NISHIMURA" EXACT []
xref: MIM:618618
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia
created_by: mtutaj
creation_date: 2021-04-29T22:41:05Z

[Term]
id: DOID:0112289
name: spondyloepiphyseal dysplasia tarda with characteristic facies
alt_id: DOID:9008185
alt_id: MIM:600093
def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8298734/ "DO"]
xref: MESH:C564003
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda
is_a: DOID:9001487 ! Facies
created_by: mtutaj
creation_date: 2021-04-29T22:42:51Z

[Term]
id: DOID:0112290
name: spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis
alt_id: DOID:9001252
def: "A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32533184/ "DO", https://pubmed.ncbi.nlm.nih.gov/33668384/ "DO"]
synonym: "SHILCA" EXACT []
synonym: "SHILCA Syndrome" EXACT []
xref: MIM:619260
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1059 ! intellectual disability
is_a: DOID:14791 ! Leber congenital amaurosis
is_a: DOID:225 ! syndrome
created_by: mtutaj
creation_date: 2021-04-29T22:44:47Z

[Term]
id: DOID:0112291
name: autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type
alt_id: DOID:9000095
alt_id: MIM:609223
def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14755466/ "DO"]
xref: MESH:C563772
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda
created_by: mtutaj
creation_date: 2021-04-29T22:48:28Z

[Term]
id: DOID:0112292
name: spondyloepiphyseal dysplasia tarda with intellectual disability
alt_id: DOID:9005685
alt_id: MIM:271620
def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3612708/ "DO"]
synonym: "spondyloepiphyseal dysplasia tarda with mental retardation" EXACT []
xref: MESH:C564796
xref: ORDO:163665
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda
is_a: DOID:1059 ! intellectual disability
created_by: mtutaj
creation_date: 2021-04-29T22:50:42Z

[Term]
id: DOID:0112293
name: autosomal recessive spondyloepiphyseal dysplasia tarda
alt_id: DOID:9008360
alt_id: MIM:271600
def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19994087/ "DO"]
xref: MESH:C564797
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda
created_by: mtutaj
creation_date: 2021-04-29T22:53:26Z

[Term]
id: DOID:0112294
name: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability
alt_id: DOID:9002773
alt_id: MIM:602611
def: "A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9557884/ "DO"]
synonym: "Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation" EXACT []
xref: MESH:C566515
xref: ORDO:163649
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:674 ! cleft palate
is_a: DOID:83 ! cataract
created_by: mtutaj
creation_date: 2021-04-29T22:56:04Z

[Term]
id: DOID:0112295
name: spondylometaphyseal dysplasia
alt_id: DOID:9007642
def: "An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16752352/ "DO"]
synonym: "spondylometaphyseal dysplasias" EXACT []
xref: MIM:PS184255
xref: ORDO:254
is_a: DOID:2256 ! osteochondrodysplasia
created_by: mtutaj
creation_date: 2021-04-29T22:09:44Z

[Term]
id: DOID:0112296
name: spondylometaphyseal dysplasia Algerian type
alt_id: DOID:9000592
alt_id: MIM:184253
def: "A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3368247/ "DO"]
synonym: "spondylometaphyseal dysplasia, Schmidt type" EXACT []
synonym: "spondylometaphyseal dysplasia with severe genu valgum" EXACT []
xref: GARD:504
xref: MESH:C535794
xref: ORDO:93316
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
created_by: mtutaj
creation_date: 2021-04-29T23:00:08Z

[Term]
id: DOID:0112297
name: spondylometaphyseal dysplasia corner fracture type
alt_id: DOID:9000546
alt_id: MIM:184255
def: "A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2343127/ "DO", https://pubmed.ncbi.nlm.nih.gov/29100092/ "DO"]
synonym: "FN1-RELATED CONDITION" BROAD []
synonym: "SMDCF" EXACT []
synonym: "spondylometaphyseal dysplasia, Sutcliffe type" EXACT []
xref: GARD:4991
xref: MESH:C535793
xref: ORDO:93315
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
is_a: DOID:9001547 ! Tibial Fractures
is_a: DOID:9006257 ! Growth Disorders
created_by: mtutaj
creation_date: 2021-04-29T23:01:47Z

[Term]
id: DOID:0112298
name: spondylometaphyseal dysplasia Sedaghatian type
alt_id: DOID:9003961
alt_id: MIM:250220
def: "A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24706940/ "DO"]
synonym: "GPX4-RELATED CONDITION" EXACT []
synonym: "Lethal Metaphyseal Dysplasia" EXACT []
synonym: "Metaphyseal Chondrodysplasia, Congenital Lethal" EXACT []
synonym: "Sedaghatian Chondrodysplasia" EXACT []
synonym: "SMDS" EXACT []
xref: GARD:4993
xref: MESH:C535798
xref: ORDO:93317
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
created_by: mtutaj
creation_date: 2021-04-29T23:03:20Z

[Term]
id: DOID:0112299
name: axial spondylometaphyseal dysplasia
alt_id: DOID:9006983
alt_id: MIM:602271
def: "A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21910225/ "DO", https://pubmed.ncbi.nlm.nih.gov/26167768/ "DO"]
synonym: "CFAP410-RELATED CONDITION" BROAD []
synonym: "SMDAX" EXACT []
synonym: "SMD, axial" EXACT []
synonym: "SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL" EXACT []
xref: GARD:8720
xref: MESH:C535795
xref: ORDO:168549
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
created_by: mtutaj
creation_date: 2021-04-29T23:05:06Z

[Term]
id: DOID:0112300
name: spondylometaphyseal dysplasia with cone-rod dystrophy
alt_id: DOID:9005400
def: "A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15326626/ "DO", https://pubmed.ncbi.nlm.nih.gov/24387990/ "DO"]
synonym: "SMD-CRD" EXACT []
synonym: "SMDCRD" EXACT []
synonym: "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" EXACT []
xref: GARD:10647
xref: MESH:C563825
xref: MIM:608940
xref: MONDO:0012160
xref: ORDO:85167
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2021-04-29T23:06:40Z

[Term]
id: DOID:0112301
name: spondylometaphyseal dysplasia type A4
alt_id: DOID:9005008
alt_id: MIM:609052
def: "A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1870931/ "DO", https://pubmed.ncbi.nlm.nih.gov/9637426/ "DO"]
synonym: "SMDA4" EXACT []
xref: GARD:458
xref: MESH:C563803
xref: ORDO:168555
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
created_by: mtutaj
creation_date: 2021-04-29T23:08:21Z

[Term]
id: DOID:0112302
name: spondylometaphyseal dysplasia East African type
alt_id: DOID:9006984
alt_id: MIM:611702
def: "A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12457408/ "DO"]
xref: GARD:4992
xref: MESH:C535796
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
created_by: mtutaj
creation_date: 2021-04-29T23:09:43Z

[Term]
id: DOID:0112303
name: spondylometaphyseal dysplasia with corneal dystrophy
alt_id: DOID:9006773
def: "A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29122926/ "DO"]
synonym: "SMDCD" EXACT []
xref: MIM:618961
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
is_a: DOID:2566 ! corneal dystrophy
created_by: mtutaj
creation_date: 2021-04-29T23:11:21Z

[Term]
id: DOID:0112304
name: spondylometaphyseal dysplasia Megarbane-Dagher-Melike type
alt_id: DOID:9005899
alt_id: MIM:613320
def: "A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24786642/ "DO"]
synonym: "Chondrodysplasia, Megarbane-Dagher-Melki Type" EXACT []
synonym: "Megarbane-Dagher-Melike type chondrodysplasia" EXACT []
synonym: "Megarbane-Dagher-Melki type of spondylometaphyseal dysplasia" EXACT []
synonym: "SMDMDM" EXACT []
synonym: "spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type" EXACT []
xref: MESH:C567644
xref: ORDO:401979
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2021-04-29T23:12:45Z

[Term]
id: DOID:0112305
name: spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism
alt_id: DOID:9006430
alt_id: MIM:607543
def: "A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12503112/ "DO"]
synonym: "SMD With Bowed Forearms And Facial Dysmorphism" EXACT []
synonym: "spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome" EXACT []
xref: GARD:8719
xref: MESH:C535791
xref: ORDO:168552
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
created_by: mtutaj
creation_date: 2021-04-29T23:15:01Z

[Term]
id: DOID:0112306
name: Mahvash disease
def: "An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29702528/ "DO"]
synonym: "alpha-cell hyperplasia with glucagonemia" EXACT []
synonym: "GCGR-related hyperglucagonemia" EXACT []
synonym: "MVAH" EXACT []
synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" EXACT []
xref: GARD:10460
xref: MIM:619290
xref: ORDO:438274
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1428 ! endocrine pancreas disease
created_by: mtutaj
creation_date: 2021-04-29T23:16:55Z

[Term]
id: DOID:0112307
name: sarcosinemia
alt_id: DOID:9005413
def: "An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22825317/ "DO", https://pubmed.ncbi.nlm.nih.gov/5936868/ "DO"]
synonym: "deficiency of sarcosin dehydrogenase complex" EXACT []
synonym: "deficiency of sarcosine dehydrogenase complex" EXACT []
synonym: "demethylation defect of N-methylglycine" EXACT []
synonym: "hypersarcosinemia" EXACT []
synonym: "SARCOS" EXACT []
synonym: "SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY" EXACT []
synonym: "SARD deficiency" EXACT []
synonym: "SARDHD" EXACT []
synonym: "SARDH deficiency" EXACT []
xref: GARD:158
xref: MESH:C537236
xref: MIM:268900
xref: MONDO:0010008
xref: ORDO:3129
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2021-04-29T23:18:44Z

[Term]
id: DOID:0112308
name: central precocious puberty
def: "An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23738509/ "DO", https://pubmed.ncbi.nlm.nih.gov/30086862/ "DO"]
synonym: "gonadotropin-dependant precocious puberty" EXACT []
xref: EFO:0009029
xref: ICD10CM:E22.8
xref: NCI:C113217
xref: ORDO:759
is_a: DOID:9007284 ! Precocious Puberty
created_by: mtutaj
creation_date: 2021-06-03T21:57:17Z

[Term]
id: DOID:0112309
name: central precocious puberty 2
alt_id: DOID:9005385
def: "A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23738509/ "DO"]
synonym: "CPPB2" EXACT []
synonym: "MKRN3-RELATED CONDITION" EXACT []
xref: MIM:615346
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112308 ! central precocious puberty
created_by: mtutaj
creation_date: 2021-06-03T22:01:09Z

[Term]
id: DOID:0112310
name: central precocious puberty 1
alt_id: DOID:9006905
alt_id: MIM:176400
def: "A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18272894/ "DO"]
synonym: "CPPB1" EXACT []
xref: MESH:C562787
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112308 ! central precocious puberty
created_by: mtutaj
creation_date: 2021-06-03T22:04:10Z

[Term]
id: DOID:0112311
name: male infertility due to acephalic spermatozoa
def: "A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27640305/ "DO"]
synonym: "acephalic spermatozoa syndrome" EXACT []
xref: MONDO:0035153
xref: ORDO:529970
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2021-10-12T14:17:38Z

[Term]
id: DOID:0112312
name: male infertility due to globozoospermia
alt_id: DOID:9000296
alt_id: DOID:9001850
def: "A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3338587/ "DO"]
synonym: "globozoospermia" EXACT []
synonym: "globozoospermias" EXACT []
synonym: "globozoospermia syndrome" EXACT []
synonym: "male infertility due to round-headed spermatozoa" EXACT []
xref: GARD:12502
xref: NCI:C158500
xref: ORDO:171709
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:9002321 ! Teratozoospermia
created_by: mtutaj
creation_date: 2021-10-12T16:22:12Z

[Term]
id: DOID:0112313
name: brain small vessel disease
alt_id: DOID:9007269
def: "A brain disease characterized by abnormalities in the small blood vessels in the brain. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16598045/ "DO"]
synonym: "brain small vessel diseases" EXACT []
synonym: "BSVD" EXACT []
synonym: "cerebral microangiopathies" EXACT []
synonym: "cerebral microangiopathy" EXACT []
synonym: "cerebral small vessel disease" EXACT []
synonym: "cerebral small vessel diseases" EXACT []
synonym: "COL4-RELATED CEREBRAL SMALL VESSEL DISEASE" NARROW []
xref: EFO:0008493
xref: MESH:D059345
xref: MIM:PS175780
is_a: DOID:6713 ! cerebrovascular disease
created_by: mtutaj
creation_date: 2021-10-12T16:24:37Z

[Term]
id: DOID:0112314
name: brain small vessel disease 2
alt_id: DOID:9007357
def: "A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22209246/ "DO"]
synonym: "ACQUIRED PORENCEPHALY" RELATED []
synonym: "BSVD2" EXACT []
synonym: "COL4A2-RELATED CONDITION" BROAD []
synonym: "COL4A2-RELATED DISORDER" BROAD []
synonym: "Gould syndrome 2" EXACT []
synonym: "POREN2" EXACT []
synonym: "porencephaly 2" EXACT []
xref: MIM:614483
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060263 ! porencephaly
is_a: DOID:0112313 ! brain small vessel disease
created_by: mtutaj
creation_date: 2021-10-12T16:47:59Z

[Term]
id: DOID:0112315
name: brain small vessel disease 3
alt_id: DOID:9007013
def: "A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30412317/ "DO"]
synonym: "BSVD3" EXACT []
xref: MIM:618360
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112313 ! brain small vessel disease
created_by: mtutaj
creation_date: 2021-10-12T16:50:25Z

[Term]
id: DOID:0112316
name: methemoglobinemia and ambiguous genitalia
alt_id: DOID:9005696
alt_id: MIM:250790
def: "A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20080843/ "DO", https://pubmed.ncbi.nlm.nih.gov/22170710/ "DO"]
synonym: "METAG" EXACT []
synonym: "methemoglobinemia due to deficiency of cytochrome B5" EXACT []
synonym: "methemoglobinemia type IV" EXACT []
synonym: "pure isolated 17,20-lyase deficiency" EXACT []
xref: MESH:C567102
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10783 ! methemoglobinemia
is_a: DOID:1923 ! disorder of sexual development
created_by: mtutaj
creation_date: 2021-10-12T16:52:59Z

[Term]
id: DOID:0112317
name: Schindler disease
def: "A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3149698/ "DO"]
synonym: "Alpha-N-Acetylgalactosaminidase Deficiency" EXACT []
synonym: "Alpha-Naga Deficiency" EXACT []
synonym: "Naga Deficiency" EXACT []
xref: ORDO:3137
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3211 ! lysosomal storage disease
created_by: mtutaj
creation_date: 2021-10-12T16:57:08Z

[Term]
id: DOID:0112318
name: Schindler disease type 1
alt_id: DOID:9008896
alt_id: MIM:609241
def: "A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2889023/ "DO"]
synonym: "Alpha-Galactosidase B Deficiency" EXACT []
synonym: "Alpha-Galnac Deficiency, Schindler Type" EXACT []
synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 1" EXACT []
synonym: "Alpha-N-Acetylgalactosaminidase Deficiency, Type I" EXACT []
synonym: "Angiokeratoma Corporis Diffusum-Glycopeptiduria" EXACT []
synonym: "Galb Deficiency" EXACT []
synonym: "Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum" EXACT []
synonym: "NAGA deficiency type 1" EXACT []
synonym: "Naga Deficiency, Type I" EXACT []
synonym: "Neuroaxonal dystrophy, Schindler type" EXACT []
synonym: "Neuronal Axonal Dystrophy, Schindler Type" EXACT []
synonym: "Schindler Disease, Type I" EXACT []
xref: GARD:116
xref: MESH:C536631
xref: ORDO:79279
is_a: DOID:0112317 ! Schindler disease
is_a: DOID:2367 ! neuroaxonal dystrophy
created_by: mtutaj
creation_date: 2021-10-12T17:24:35Z

[Term]
id: DOID:0112319
name: Kanzaki disease
def: "A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2564952/ "DO"]
synonym: "Alpha-N-acetylgalactosaminidase deficiency adult onset" EXACT []
synonym: "Alpha-N-acetylgalactosaminidase deficiency type 2" EXACT []
synonym: "alpha-N-Acetylgalactosaminidase Deficiency, Type II" EXACT []
synonym: "NAGA deficiency type 2" EXACT []
synonym: "NAGA Deficiency, Type II" EXACT []
synonym: "Schindler disease, type 2" EXACT []
synonym: "Schindler Disease, Type II" EXACT []
xref: GARD:9161
xref: MIM:609242
xref: ORDO:79280
is_a: DOID:0112317 ! Schindler disease
created_by: mtutaj
creation_date: 2021-10-12T17:31:08Z

[Term]
id: DOID:0112320
name: Schindler disease type 3
def: "A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8071745/ "DO"]
synonym: "alpha-N-acetylgalactosaminidase deficiency type 3" EXACT []
synonym: "Alpha-N-Acetylgalactosaminidase Deficiency, Type III" EXACT []
synonym: "NAGA deficiency type 3" EXACT []
synonym: "NAGA DEFICIENCY, TYPE III" EXACT []
synonym: "SCHINDLER DISEASE, TYPE III" EXACT []
xref: GARD:3903
xref: ORDO:79281
is_a: DOID:0112317 ! Schindler disease
created_by: mtutaj
creation_date: 2021-10-12T17:35:58Z

[Term]
id: DOID:0112321
name: alacrima, achalasia, and impaired intellectual development syndrome
alt_id: DOID:9004427
def: "A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24035193/ "DO"]
synonym: "AAMR" EXACT []
synonym: "alacrima, achalasia, and mental retardation syndrome" EXACT []
xref: MIM:615510
xref: NCI:C202544
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:5212 ! congenital disorder of glycosylation
is_a: DOID:9004034 ! Alacrima
is_a: DOID:9005110 ! Familial Esophageal Achalasia
is_a: DOID:9006811 ! Congenital Alacrima
created_by: mtutaj
creation_date: 2021-10-12T17:41:08Z

[Term]
id: DOID:0112322
name: pontocerebellar hypoplasia type 1
alt_id: DOID:9009228
def: "A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. (DO)" [https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/21749694/ "DO"]
synonym: "Norman disease" EXACT []
synonym: "PCH1" EXACT []
xref: GARD:10704
xref: MESH:C548069
is_a: DOID:0060264 ! pontocerebellar hypoplasia
created_by: mtutaj
creation_date: 2021-11-16T14:30:30Z

[Term]
id: DOID:0112323
name: pontocerebellar hypoplasia type 1D
alt_id: DOID:9009227
def: "A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29727687/ "DO", https://pubmed.ncbi.nlm.nih.gov/30690203/ "DO"]
synonym: "PCH1D" EXACT []
xref: MIM:618065
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1
created_by: mtutaj
creation_date: 2021-11-16T14:59:03Z

[Term]
id: DOID:0112324
name: pontocerebellar hypoplasia type 11
alt_id: DOID:9003995
def: "A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28823706/ "DO"]
synonym: "PCH11" EXACT []
xref: MIM:617695
xref: MONDO:0054669
xref: ORDO:611247
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060264 ! pontocerebellar hypoplasia
created_by: mtutaj
creation_date: 2021-11-16T15:01:03Z

[Term]
id: DOID:0112325
name: pontocerebellar hypoplasia type 14
alt_id: DOID:9001507
def: "A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33220177/ "DO"]
synonym: "PCH14" EXACT []
xref: MIM:619301
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060264 ! pontocerebellar hypoplasia
created_by: mtutaj
creation_date: 2021-11-16T15:03:29Z

[Term]
id: DOID:0112326
name: pontocerebellar hypoplasia type 15
alt_id: DOID:9005060
def: "A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33220177/ "DO"]
synonym: "PCH15" EXACT []
xref: MIM:619302
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060264 ! pontocerebellar hypoplasia
created_by: mtutaj
creation_date: 2021-11-16T15:05:01Z

[Term]
id: DOID:0112327
name: pontocerebellar hypoplasia type 12
alt_id: DOID:9004840
def: "A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30089828/ "DO"]
synonym: "COASY-RELATED CONDITION" BROAD []
synonym: "COASY-related pontocerebellar hypoplasia" EXACT []
synonym: "PCH12" EXACT []
xref: MIM:618266
xref: ORDO:611256
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060264 ! pontocerebellar hypoplasia
created_by: mtutaj
creation_date: 2021-11-16T15:07:18Z

[Term]
id: DOID:0112328
name: pontocerebellar hypoplasia type 2
alt_id: DOID:9003707
def: "A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy. (DO)" [https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/ "DO"]
synonym: "PCH2" EXACT []
xref: GARD:10705
xref: MESH:C548070
xref: MONDO:0016759
xref: ORDO:2524
is_a: DOID:0060264 ! pontocerebellar hypoplasia
created_by: mtutaj
creation_date: 2021-11-16T14:33:36Z

[Term]
id: DOID:0112329
name: pontocerebellar hypoplasia type 2F
alt_id: DOID:9004573
def: "A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27392077/ "DO"]
synonym: "PCH2F" EXACT []
xref: MIM:617026
xref: MONDO:0014874
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2
created_by: mtutaj
creation_date: 2021-11-16T15:10:14Z

[Term]
id: DOID:0112330
name: pontocerebellar hypoplasia type 1E
alt_id: DOID:9005567
def: "A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26168012/ "DO", https://pubmed.ncbi.nlm.nih.gov/28653766/ "DO"]
synonym: "PCH1E" EXACT []
xref: MIM:619303
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1
created_by: mtutaj
creation_date: 2021-11-16T15:12:14Z

[Term]
id: DOID:0112331
name: pontocerebellar hypoplasia type 1F
alt_id: DOID:9004539
def: "A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33463720/ "DO"]
synonym: "PCH1F" EXACT []
xref: MIM:619304
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1
created_by: mtutaj
creation_date: 2021-11-16T15:13:46Z

[Term]
id: DOID:0112332
name: pontocerebellar hypoplasia type 13
alt_id: DOID:9001590
def: "A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31207318/ "DO"]
synonym: "PCH13" EXACT []
xref: EFO:0010636
xref: MIM:618606
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060264 ! pontocerebellar hypoplasia
created_by: mtutaj
creation_date: 2021-11-16T15:15:19Z

[Term]
id: DOID:0112333
name: pontocerebellar hypoplasia type 16
alt_id: DOID:9007990
def: "A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33168985/ "DO", https://pubmed.ncbi.nlm.nih.gov/33257696/ "DO"]
synonym: "PCH16" EXACT []
xref: MIM:619527
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060264 ! pontocerebellar hypoplasia
created_by: mtutaj
creation_date: 2021-11-16T15:16:58Z

[Term]
id: DOID:0112334
name: pontocerebellar hypoplasia type 1C
alt_id: DOID:9006688
def: "A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24989451/ "DO"]
synonym: "HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA" EXACT []
synonym: "PCH1C" EXACT []
xref: MIM:616081
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1
created_by: mtutaj
creation_date: 2021-11-16T15:18:17Z

[Term]
id: DOID:0112335
name: spermatogenic failure 54
alt_id: DOID:9001569
def: "A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32503832/ "DO"]
synonym: "SPGF54" EXACT []
xref: MIM:619379
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2021-11-16T15:19:56Z

[Term]
id: DOID:0112336
name: spermatogenic failure 56
alt_id: DOID:9003560
def: "A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34237282/ "DO"]
synonym: "SPGF56" EXACT []
xref: MIM:619515
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2021-11-16T15:22:02Z

[Term]
id: DOID:0112337
name: spermatogenic failure 55
alt_id: DOID:9008489
def: "A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28548327/ "DO"]
synonym: "SPGF55" EXACT []
xref: MIM:619380
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2021-11-16T15:23:19Z

[Term]
id: DOID:0112338
name: spermatogenic failure 57
alt_id: DOID:9007053
def: "A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34347949/ "DO"]
synonym: "MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION" BROAD []
synonym: "SPGF57" EXACT []
xref: MIM:619528
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2021-11-16T15:24:41Z

[Term]
id: DOID:0112339
name: Tatton-Brown-Rahman syndrome
alt_id: DOID:9007831
def: "A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24614070/ "DO", https://pubmed.ncbi.nlm.nih.gov/34315901/ "DO"]
synonym: "DNMT3A overgrowth syndrome" EXACT []
synonym: "DOS" EXACT []
synonym: "Tatton-Brown-Rahman overgrowth syndrome" EXACT []
synonym: "TBRS" EXACT []
xref: MIM:615879
xref: ORDO:404443
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050888 ! syndromic intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9006084 ! Gigantism
is_a: DOID:9006257 ! Growth Disorders
created_by: mtutaj
creation_date: 2022-03-07T10:43:52Z

[Term]
id: DOID:0112340
name: craniotubular dysplasia Ikegawa type
def: "A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33824347/ "DO"]
synonym: "CTDI" EXACT []
synonym: "TMEM53-RELATED CRANIOTUBULAR DYSPLASIA" EXACT []
xref: MIM:619727
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080032 ! craniodiaphyseal dysplasia
created_by: mtutaj
creation_date: 2022-03-07T10:49:09Z

[Term]
id: DOID:0112341
name: hereditary spastic paraplegia 80
alt_id: DOID:9000479
def: "A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30929741/ "DO"]
synonym: "autosomal dominant spastic paraplegia 80" EXACT []
synonym: "SPG80" EXACT []
synonym: "UBAP1-RELATED CONDITION" EXACT []
xref: MIM:618418
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2022-03-07T10:51:25Z

[Term]
id: DOID:0112342
name: hereditary spastic paraplegia 86
alt_id: DOID:9000731
def: "A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34489854/ "DO", https://pubmed.ncbi.nlm.nih.gov/34866177/ "DO"]
synonym: "spastic paraplegia 86 autosomal recessive" EXACT []
synonym: "SPG86" EXACT []
xref: MIM:619735
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2022-03-07T10:54:24Z

[Term]
id: DOID:0112343
name: hereditary spastic paraplegia 82
alt_id: DOID:9003993
def: "A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31637422/ "DO"]
synonym: "spastic paraplegia 82 autosomal recessive" EXACT []
synonym: "SPG82" EXACT []
xref: MIM:618770
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2022-03-07T10:56:53Z

[Term]
id: DOID:0112344
name: hereditary spastic paraplegia 79B
alt_id: DOID:9002985
def: "A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28007905/ "DO"]
synonym: "autosomal recessive spastic paraplegia 79" RELATED []
synonym: "autosomal recessive spastic paraplegia 79B" EXACT []
synonym: "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome" EXACT []
synonym: "NDGOA" EXACT []
synonym: "neurodegeneration with optic atrophy, childhood-onset" EXACT []
synonym: "SPG79" RELATED []
synonym: "SPG79B" EXACT []
xref: MIM:615491
xref: ORDO:352654
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2022-03-07T10:58:55Z

[Term]
id: DOID:0112345
name: hereditary spastic paraplegia 85
alt_id: DOID:9002197
def: "A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31636353/ "DO"]
synonym: "spastic paraplegia 85 autosomal recessive" EXACT []
synonym: "SPG85" EXACT []
xref: MIM:619686
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2022-03-07T11:00:45Z

[Term]
id: DOID:0112346
name: hereditary spastic paraplegia 83
alt_id: DOID:9006133
def: "A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32707086/ "DO"]
synonym: "spastic paraplegia 83 autosomal recessive" EXACT []
synonym: "SPG83" EXACT []
xref: MIM:619027
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2022-03-07T11:02:39Z

[Term]
id: DOID:0112347
name: hereditary spastic paraplegia 84
alt_id: DOID:9000072
def: "A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34415322/ "DO"]
synonym: "spastic paraplegia 84 autosomal recessive" EXACT []
synonym: "SPG84" EXACT []
xref: EFO:0020858
xref: MIM:619621
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2022-03-07T11:04:06Z

[Term]
id: DOID:0112348
name: hereditary spastic paraplegia 78
alt_id: DOID:9003368
def: "A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28137957/ "DO"]
synonym: "ATP13A2-RELATED CONDITION" BROAD []
synonym: "AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78" EXACT []
synonym: "spastic paraplegia 78 autosomal recessive" EXACT []
synonym: "SPG78" EXACT []
xref: MIM:617225
xref: ORDO:513436
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2022-03-07T11:05:29Z

[Term]
id: DOID:0112349
name: hereditary spastic paraplegia 81
alt_id: DOID:9005550
def: "A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28052917/ "DO", https://pubmed.ncbi.nlm.nih.gov/29500230/ "DO"]
synonym: "autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction" EXACT []
synonym: "autosomal recessive complex SPG due to Kennedy pathway dysfunction" EXACT []
synonym: "spastic paraplegia 81 autosomal recessive" EXACT []
synonym: "SPG81" EXACT []
xref: MIM:618768
xref: ORDO:506353
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: mtutaj
creation_date: 2022-03-07T11:07:23Z

[Term]
id: DOID:0112350
name: spermatogenic failure 61
alt_id: DOID:9003991
def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the STAG3 gene on chromosome 7q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31125047/ "DO", https://pubmed.ncbi.nlm.nih.gov/31682730/ "DO"]
synonym: "SPGF61" EXACT []
xref: MIM:619672
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia
created_by: mtutaj
creation_date: 2022-03-07T11:08:57Z

[Term]
id: DOID:0112351
name: spermatogenic failure 62
alt_id: DOID:9000031
def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the RNF212 gene on chromosome 4p16.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31125047/ "DO"]
synonym: "SPGF62" EXACT []
xref: MIM:619673
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia
created_by: mtutaj
creation_date: 2022-03-07T11:12:31Z

[Term]
id: DOID:0112352
name: spermatogenic failure 58
alt_id: DOID:9005122
def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33689014/ "DO"]
synonym: "MMAF" EXACT []
synonym: "MULTIPLE MORPHOLOGICAL ANOMALIES OF SPERM FLAGELLA" EXACT []
synonym: "SPGF58" EXACT []
xref: MIM:619585
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2022-03-07T11:14:03Z

[Term]
id: DOID:0112353
name: spermatogenic failure 64
alt_id: DOID:9000302
def: "A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FBXO43 gene on chromosome 8q22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30878252/ "DO", https://pubmed.ncbi.nlm.nih.gov/34595750/ "DO"]
synonym: "SPGF64" EXACT []
xref: MIM:619696
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2022-03-07T11:16:36Z

[Term]
id: DOID:0112354
name: spermatogenic failure 65
alt_id: DOID:9003804
def: "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DHND1 gene on chromosome 11p15.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34932939/ "DO"]
synonym: "DNHD1-RELATED CONDITION" EXACT []
synonym: "SPGF65" EXACT []
xref: MIM:619712
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2022-03-07T11:17:35Z

[Term]
id: DOID:0112355
name: spermatogenic failure 60
alt_id: DOID:9000091
def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32741963/ "DO"]
synonym: "SPGF 60" EXACT []
synonym: "SPGF60" EXACT []
xref: MIM:619646
xref: MONDO:0030493
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia
created_by: mtutaj
creation_date: 2022-03-07T11:18:49Z

[Term]
id: DOID:0112356
name: spermatogenic failure 63
alt_id: DOID:9002940
def: "A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the RPL10L gene on chromosome 14q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32111475/ "DO"]
synonym: "SPGF63" EXACT []
xref: MIM:619689
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
created_by: mtutaj
creation_date: 2022-03-07T11:20:36Z

[Term]
id: DOID:0112357
name: spermatogenic failure 59
alt_id: DOID:9002386
def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB2 gene on chromosome 15q21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33211200/ "DO"]
synonym: "SPGF59" EXACT []
xref: MIM:619645
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:14227 ! azoospermia
created_by: mtutaj
creation_date: 2022-03-07T11:22:02Z

[Term]
id: DOID:0112358
name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
alt_id: DOID:9005035
def: "Characterized by thin and short long bones, distinctive facial dysmorphism, and dental and skeletal abnormalities, in the absence of developmental delay or intellectual disability. Caused by homozygous mutation in the SCUBE3 gene on chromosome 6p21. (DO)" []
synonym: "SSFSC2" EXACT []
xref: MIM:619184
is_a: DOID:9004675 ! Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies
created_by: mtutaj
creation_date: 2022-04-28T16:56:25Z

[Term]
id: DOID:0112359
name: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
alt_id: DOID:9006401
def: "A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28566479/ "DO", https://pubmed.ncbi.nlm.nih.gov/29036646/ "DO"]
synonym: "CAKUTHED" EXACT []
synonym: "PBX1-RELATED CONDITION" EXACT []
synonym: "PBX1-RELATED INTELLECTUAL DISABILITY AND PLEIOTROPIC DEVELOPMENTAL DEFECTS" NARROW []
xref: MIM:617641
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:18 ! urinary system disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: mtutaj
creation_date: 2022-04-28T17:06:04Z

[Term]
id: DOID:0112360
name: spondylocostal dysostosis 6
alt_id: DOID:9007515
def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25343988/ "DO"]
synonym: "SCDO6" EXACT []
synonym: "spondylocostal dysostosis 6, autosomal recessive" EXACT []
xref: MIM:616566
is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive
created_by: mtutaj
creation_date: 2022-04-28T18:47:47Z

[Term]
id: DOID:0112361
name: spondylocostal dysostosis 3
alt_id: DOID:9008439
def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16385447/ "DO"]
synonym: "SCDO3" EXACT []
synonym: "spondylocostal dysostosis 3, autosomal recessive" EXACT []
xref: MIM:609813
is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive
created_by: mtutaj
creation_date: 2022-04-28T18:50:44Z

[Term]
id: DOID:0112362
name: spondylocostal dysostosis 2
alt_id: DOID:9001037
def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15122512/ "DO"]
synonym: "SCDO2" EXACT []
synonym: "spondylocostal dysostosis 2, autosomal recessive" EXACT []
synonym: "spondylocostal dysostosis type 2" EXACT []
xref: MIM:608681
is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive
created_by: mtutaj
creation_date: 2022-04-28T18:52:45Z

[Term]
id: DOID:0112363
name: spondylocostal dysostosis 5
alt_id: DOID:9005408
def: "A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23335591/ "DO", https://pubmed.ncbi.nlm.nih.gov/25564734/ "DO"]
synonym: "congenital scoliosis with or without rib anomalies" EXACT []
synonym: "SCDO5" EXACT []
synonym: "SPONDYLOCOSTAL DYSPLASIA" RELATED []
synonym: "spondylothoracic dysostosis" EXACT []
synonym: "TACS" EXACT []
synonym: "TBX6-associated congenital scoliosis" EXACT []
xref: MIM:122600
xref: MONDO:0007389
is_a: DOID:0050568 ! spondylocostal dysostosis
is_a: DOID:0050739 ! autosomal genetic disease
created_by: mtutaj
creation_date: 2022-04-28T18:55:10Z

[Term]
id: DOID:0112364
name: spondylocostal dysostosis 4
alt_id: DOID:9008362
def: "A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18775957/ "DO"]
synonym: "SCDO4" EXACT []
synonym: "spondylocostal dysostosis 4, autosomal recessive" EXACT []
xref: MIM:613686
is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive
created_by: mtutaj
creation_date: 2022-04-28T18:57:17Z

[Term]
id: DOID:0112365
name: spondylocostal dysostosis 1
alt_id: DOID:9007004
alt_id: MIM:277300
def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10742114/ "DO"]
synonym: "autosomal recessive spondylocostal dysostosis 1" EXACT []
synonym: "costovertebral dysplasia" EXACT []
synonym: "DLL3-RELATED CONDITION" EXACT []
synonym: "DLL3-related disorder" EXACT []
synonym: "Jarcho-Levin syndrome" EXACT []
synonym: "SCDO1" EXACT []
synonym: "spondylocostal dysplasia, recessive form" EXACT []
synonym: "spondylothoracic dysostosis" EXACT []
xref: MESH:C537565
is_a: DOID:225 ! syndrome
is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9009073 ! Diaphragmatic Hernia
created_by: mtutaj
creation_date: 2022-04-28T18:59:07Z

[Term]
id: DOID:0112367
name: Coffin-Siris syndrome 8
alt_id: DOID:9002142
def: "A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30580808/ "DO"]
synonym: "CSS8" EXACT []
synonym: "SMARCC2-RELATED BAFOPATHY" EXACT []
synonym: "SMARCC2-RELATED CONDITION" EXACT []
xref: MIM:618362
is_a: DOID:1925 ! Coffin-Siris syndrome
created_by: mtutaj
creation_date: 2022-06-02T23:15:08Z

[Term]
id: DOID:0112368
name: Coffin-Siris syndrome 5
alt_id: DOID:9009053
def: "A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22426308/ "DO", https://pubmed.ncbi.nlm.nih.gov/23906836/ "DO"]
synonym: "CSS5" EXACT []
xref: MIM:616938
is_a: DOID:1925 ! Coffin-Siris syndrome
created_by: mtutaj
creation_date: 2022-06-02T23:17:26Z

[Term]
id: DOID:0112369
name: Coffin-Siris syndrome 7
alt_id: DOID:9009178
def: "A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29429572/ "DO"]
synonym: "CSS7" EXACT []
xref: MIM:618027
is_a: DOID:1925 ! Coffin-Siris syndrome
created_by: mtutaj
creation_date: 2022-06-03T07:59:31Z

[Term]
id: DOID:0112370
name: Coffin-Siris syndrome 12
alt_id: DOID:9003485
def: "A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33232675/ "DO"]
synonym: "BICRA-RELATED CONDITION" EXACT []
synonym: "CSS12" EXACT []
xref: MIM:619325
is_a: DOID:1925 ! Coffin-Siris syndrome
created_by: mtutaj
creation_date: 2022-06-03T08:02:29Z

[Term]
id: DOID:0112371
name: Coffin-Siris syndrome 10
alt_id: DOID:9001894
def: "A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30661772/ "DO"]
synonym: "CSS10" EXACT []
synonym: "IDDSDF" EXACT []
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES" EXACT []
xref: MIM:618506
is_a: DOID:1925 ! Coffin-Siris syndrome
created_by: mtutaj
creation_date: 2022-06-03T08:04:02Z

[Term]
id: DOID:0112372
name: Coffin-Siris syndrome 11
alt_id: DOID:9006260
def: "A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30879640/ "DO"]
synonym: "CSS11" EXACT []
xref: MIM:618779
xref: MONDO:0032912
is_a: DOID:1925 ! Coffin-Siris syndrome
created_by: mtutaj
creation_date: 2022-06-03T08:05:39Z

[Term]
id: DOID:0112373
name: autosomal dominant auditory neuropathy 3
alt_id: DOID:9002849
def: "An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34050020/ "DO"]
synonym: "AUNA3" EXACT []
xref: MIM:619832
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
is_a: DOID:9001890 ! Auditory Neuropathy
created_by: mtutaj
creation_date: 2022-06-03T08:07:27Z

[Term]
id: DOID:0112374
name: muscular dystrophy-dystroglycanopathy
def: "A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19299310/ "DO"]
comment: On 2022-06-02, DOID:0050588 [muscular dystrophy-dystroglycanopathy] has been renamed to [muscular dystrophy-dystroglycanopathy type B1] -- thank you DO :-(
synonym: "CMD due to dystroglycanopathy" EXACT []
synonym: "congenital muscular dystrophy due to dystroglycanopathy" EXACT []
synonym: "MDDG" EXACT []
xref: ORDO:370953
is_a: DOID:0050557 ! congenital muscular dystrophy
created_by: mtutaj
creation_date: 2022-06-02T19:28:16Z

[Term]
id: DOID:0112375
name: muscular dystrophy-dystroglycanopathy type B
def: "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15792865/ "DO", https://pubmed.ncbi.nlm.nih.gov/17878207/ "DO"]
synonym: "MDDGB" EXACT []
xref: MIM:PS613155
is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy
created_by: mtutaj
creation_date: 2022-06-02T19:35:43Z

[Term]
id: DOID:0112376
name: muscular dystrophy-dystroglycanopathy type B15
alt_id: DOID:9001076
def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31469168/ "DO"]
synonym: "congenital muscular dystrophy, DPM3-related" EXACT []
synonym: "MDDGB15" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15" EXACT []
xref: MIM:618992
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B
created_by: mtutaj
creation_date: 2022-06-03T09:09:25Z

[Term]
id: DOID:0112377
name: muscular dystrophy-dystroglycanopathy type B14
alt_id: DOID:9000748
def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23768512/ "DO"]
synonym: "congenital muscular dystrophy, GMPPB-related" EXACT []
synonym: "MDDGB14" EXACT []
synonym: "Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14" EXACT []
xref: MIM:615351
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy
is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B
is_a: DOID:1059 ! intellectual disability
created_by: mtutaj
creation_date: 2022-06-03T09:11:18Z

[Term]
id: DOID:0112378
name: muscular dystrophy-dystroglycanopathy type B3
alt_id: DOID:9008630
def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19067344/ "DO", https://pubmed.ncbi.nlm.nih.gov/19299310/ "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B3" EXACT []
synonym: "congenital muscular dystrophy, POMGNT1-related" EXACT []
synonym: "MDDGB3" EXACT []
synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3" EXACT []
xref: MIM:613151
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B
is_a: DOID:1059 ! intellectual disability
created_by: mtutaj
creation_date: 2022-06-03T09:15:28Z

[Term]
id: DOID:0112379
name: muscular dystrophy-dystroglycanopathy type B4
alt_id: DOID:9005845
def: "A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17878207/ "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy without impaired intellectual development, type B4" EXACT []
synonym: "congenital muscular dystrophy, FKTN-related" EXACT []
synonym: "MDDGB4" EXACT []
synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4" EXACT []
xref: MIM:613152
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B
created_by: mtutaj
creation_date: 2022-06-03T09:45:53Z

[Term]
id: DOID:0112380
name: muscular dystrophy-dystroglycanopathy type B2
alt_id: DOID:9005669
def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17634419/ "DO"]
synonym: "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B2" EXACT []
synonym: "congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2" EXACT []
synonym: "congenital muscular dystrophy, POMT2-related" EXACT []
synonym: "MDDGB2" EXACT []
synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2" EXACT []
xref: MIM:613156
xref: NCI:C126690
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B
is_a: DOID:1059 ! intellectual disability
created_by: mtutaj
creation_date: 2022-06-03T09:49:42Z

[Term]
id: DOID:0112381
name: muscular dystrophy-dystroglycanopathy type C12
alt_id: DOID:9006042
def: "A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24925318/ "DO"]
synonym: "LGMD due to POMK deficiency" EXACT []
synonym: "Limb-girdle muscular dystrophy due to POMK deficiency" EXACT []
synonym: "MDDGC12" EXACT []
synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12" EXACT []
synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED" EXACT []
xref: EFO:0010955
xref: MIM:616094
xref: ORDO:445110
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy
is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy
created_by: mtutaj
creation_date: 2022-06-03T09:51:37Z

[Term]
id: DOID:0112382
name: muscular dystrophy-dystroglycanopathy type C8
alt_id: DOID:9001671
def: "A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27066570/ "DO"]
synonym: "Autosomal Recessive Limb-Girdle Muscular Dystrophy 24" EXACT []
synonym: "Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24" EXACT []
synonym: "LGMDR24" EXACT []
synonym: "limb-girdle muscular dystrophy-dystroglycanopathy (type C8)" EXACT []
synonym: "MDDGC8" EXACT []
synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8" EXACT []
synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED" EXACT []
xref: MIM:618135
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy
is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy
created_by: mtutaj
creation_date: 2022-06-03T09:56:53Z

[Term]
id: DOID:0112383
name: KINSSHIP syndrome
alt_id: DOID:9001233
def: "A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18616733/ "DO", https://pubmed.ncbi.nlm.nih.gov/33961779/ "DO"]
synonym: "horseshoe KIdney, Nievergelt/Savarirayan mesomelic dysplasia, Seizures, Hypertrichosis, impaired Intellectual development, Pulmonary involvement" EXACT []
synonym: "KINS" EXACT []
synonym: "MESOMELIC DYSPLASIA, AFF3-RELATED" EXACT []
synonym: "MESOMELIC DYSPLASIA, STEICHEN-GERSDORF TYPE" EXACT []
xref: MIM:619297
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9009006 ! Mesomelic Dysplasia
created_by: mtutaj
creation_date: 2022-06-03T10:27:42Z

[Term]
id: DOID:070355
name: multisystem proteinopathy
def: "A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system. (DO)" [https://n.neurology.org/content/85/8/658 "DO"]
is_a: DOID:231 ! motor neuron disease

[Term]
id: DOID:100
name: intestinal infectious disease
def: "An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites. (DO)" [http://en.wikipedia.org/wiki/Intestine "DO"]
synonym: "bacterial enteritis" EXACT []
xref: ICD10CM:A00-A09
xref: ICD9CM:001-009.99
xref: RDO:9004384
is_a: DOID:5295 ! intestinal disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10003
name: sensorineural hearing loss
def: "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. (DO)" [https://medlineplus.gov/ency/article/003291.htm "DO"]
synonym: "autosomal dominant deafness with peripheral neuropathy" NARROW []
synonym: "bilateral sensorineural hearing impairment" NARROW []
synonym: "central hearing loss" EXACT []
synonym: "cochlear hearing loss" EXACT []
synonym: "CONGENITAL SENSORINEURAL HEARING IMPAIRMENT" NARROW []
synonym: "perceptive deafness" EXACT []
synonym: "perceptive hearing loss" EXACT []
synonym: "perceptive hearing loss or deafness" EXACT []
synonym: "progressive sensorineural hearing impairment" NARROW []
synonym: "sensorineural deafness" EXACT []
synonym: "sensorineural hearing loss disorder" EXACT []
synonym: "sensory hearing loss" EXACT []
xref: EFO:1001176
xref: ICD10CM:H90.5
xref: ICD9CM:389.1
xref: MESH:D006319
xref: NCI:C26739
xref: NCI:C34662
is_a: DOID:2952 ! inner ear disease
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:10011
name: thyroid lymphoma
def: "A thyroid gland cancer that has_material_basis_in lymphocytes. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK544282/ "DO"]
xref: NCI:C5265
is_a: DOID:0060058 ! lymphoma
is_a: DOID:1781 ! thyroid cancer
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:10016
name: multiple endocrine neoplasia type 2B
alt_id: MIM:162300
def: "A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. (DO)" [http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b "DO", http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO", http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/15965261 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract "DO"]
synonym: "MEA 2b" EXACT []
synonym: "MEA IIb" EXACT []
synonym: "MEN 2b" EXACT []
synonym: "MEN2b" EXACT []
synonym: "MEN 3" EXACT []
synonym: "MEN3" NARROW []
synonym: "MEN IIb" EXACT []
synonym: "MEN III" EXACT []
synonym: "MEN type IIB" EXACT []
synonym: "MUCOSAL NEUROMA SYNDROME" NARROW []
synonym: "mucosal neuroma syndromes" EXACT []
synonym: "mucosal neuromata with endocrine tumors" EXACT []
synonym: "multiple endocrine neoplasia, type 3" EXACT []
synonym: "Multiple Endocrine Neoplasia, Type IIb" EXACT []
synonym: "MULTIPLE ENDOCRINE NEOPLASIA, TYPE III" NARROW []
synonym: "multiple endocrine neoplasms type 2B" EXACT []
synonym: "Wagenmann Froboese syndrome" EXACT []
xref: ICD10CM:E31.23
xref: ICD9CM:258.03
xref: MESH:D018814
xref: NCI:C3227
xref: ORDO:247709
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3125 ! multiple endocrine neoplasia

[Term]
id: DOID:10017
name: multiple endocrine neoplasia type 1
alt_id: MIM:131100
def: "A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. (DO)" [http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1 "DO", http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000398.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/25509899 "DO"]
synonym: "MEA 1" EXACT []
synonym: "MEA I" EXACT []
synonym: "MEN 1" EXACT []
synonym: "MEN1" EXACT []
synonym: "MEN1-RELATED CONDITION" EXACT []
synonym: "MEN I" EXACT []
synonym: "MEN type I" EXACT []
synonym: "multiple endocrine neoplasia type I" EXACT []
synonym: "multiple endocrine neoplasms type 1" EXACT []
synonym: "multiple endocrine neoplasms type I" EXACT []
synonym: "Wermer's syndrome" EXACT []
synonym: "Wermer syndrome" EXACT []
synonym: "Wermer syndrome MEN1 somatic mutations" NARROW []
xref: GARD:3829
xref: ICD10CM:E31.21
xref: ICD9CM:258.01
xref: MESH:D018761
xref: NCI:C3225
xref: ORDO:652
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3125 ! multiple endocrine neoplasia

[Term]
id: DOID:1002
name: endometritis
def: "An endometrial disease that is characterized by inflammation of the endometrium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7511354 "DO"]
synonym: "endomyometritis" EXACT []
xref: EFO:1001312
xref: MESH:D004716
xref: NCI:C26764
is_a: DOID:1003 ! pelvic inflammatory disease
is_a: DOID:1005 ! endometrial disease
is_a: DOID:345 ! uterine disease

[Term]
id: DOID:10020
name: ampulla of Vater cancer
def: "A duodenum cancer that is located_in the ampulla of Vater. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25485917/ "DO"]
synonym: "malignant tumour of ampulla of Vater" EXACT []
xref: ICD10CM:C24.1
xref: ICD9CM:156.2
xref: NCI:C3536
is_a: DOID:10021 ! duodenum cancer
is_a: DOID:4606 ! bile duct cancer
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:10021
name: duodenum cancer
def: "A small intestine cancer that is located_in the beginning section of the small intestine. (DO)" [http://en.wikipedia.org/wiki/Duodenal_cancer "DO"]
synonym: "cancer of duodenum" EXACT []
synonym: "duodenal cancer" EXACT []
xref: ICD10CM:C17.0
xref: ICD9CM:152.0
xref: NCI:C4803
xref: NCI:C9328
is_a: DOID:10154 ! small intestine cancer
is_a: DOID:9000256 ! Duodenal Neoplasms
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:10022
name: ampulla of Vater benign neoplasm
def: "A duodenal benign neoplasm that is located_in the ampulla of Vater. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620475/ "DO"]
synonym: "tumor of the ampulla of Vater" EXACT []
xref: NCI:C4443
is_a: DOID:0050625 ! biliary tract benign neoplasm
is_a: DOID:1737 ! duodenal benign neoplasm
is_a: DOID:4138 ! bile duct disease

[Term]
id: DOID:10024
name: migraine with aura
alt_id: MIM:609179
alt_id: MIM:609670
def: "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. (DO)" [http://en.wikipedia.org/wiki/Migraine "DO", http://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404 "DO"]
synonym: "acute onset aura migraine" EXACT []
synonym: "basilar artery migraine" EXACT []
synonym: "basilar migraine" EXACT []
synonym: "basilar migraines" EXACT []
synonym: "basilar type migraine" EXACT []
synonym: "Classical Migraine" EXACT []
synonym: "Classic Migraine" EXACT []
synonym: "Complicated Migraine" EXACT []
synonym: "Hemiplegic-Ophthalmoplegic Migraine" EXACT []
synonym: "MGR13" RELATED []
synonym: "MGR7" RELATED []
synonym: "MGR9" RELATED []
synonym: "Migraine Aura without Headache" EXACT []
synonym: "Migraine with Acute Onset Aura" EXACT []
synonym: "migraine with auras" EXACT []
synonym: "migraine with aura, susceptibility to, 7" RELATED []
synonym: "migraine with aura, susceptibility to, 9" RELATED []
synonym: "migraine with prolonged aura" EXACT []
synonym: "migraine with typical aura" EXACT []
synonym: "prolonged aura migraine" EXACT []
synonym: "typical aura without headache" EXACT []
xref: EFO:0005295
xref: ICD10CM:G43.1
xref: ICD9CM:346.0
xref: MESH:D020325
xref: MONDO:0005475
xref: NCI:C117005
is_a: DOID:6364 ! migraine

[Term]
id: DOID:10027
name: tabes dorsalis
def: "A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO", http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm "DO"]
synonym: "Locomotor Ataxia" EXACT []
synonym: "Locomotor Ataxias" EXACT []
synonym: "Myelosyphilis" EXACT []
synonym: "posterior spinal sclerosis" EXACT []
synonym: "Spinal Cord Syphilis" EXACT []
synonym: "Spinal Meningovascular Syphilis" EXACT []
synonym: "Syphilitic Meningomyelitides" EXACT []
synonym: "Syphilitic Meningomyelitis" EXACT []
synonym: "tabes dorsalis - neurosyphilis" EXACT []
synonym: "Tabes Spinalis" EXACT []
synonym: "Tabetic Neurosyphilis" EXACT []
xref: EFO:0007505
xref: GARD:8730
xref: ICD10CM:A52.11
xref: ICD9CM:094.0
xref: MESH:D013606
xref: NCI:C35057
is_a: DOID:319 ! spinal cord disease
is_a: DOID:9001414 ! Neurosyphilis
is_a: DOID:9988 ! tertiary neurosyphilis

[Term]
id: DOID:1003
name: pelvic inflammatory disease
def: "A female reproductive system disease that is characterized by an infection of the female reproductive organs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25992748 "DO"]
synonym: "adnexitis" EXACT []
synonym: "inflammatory pelvic diseases" EXACT []
synonym: "PID" EXACT []
xref: EFO:1001388
xref: ICD10CM:N73.9
xref: ICD9CM:614.9
xref: MESH:D000292
xref: NCI:C3889
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:9000129 ! Pelvic Infection
is_a: DOID:9003261 ! Adnexal Diseases

[Term]
id: DOID:10030
name: pulmonary interstitial emphysema
def: "A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation. (DO)" [https://radiopaedia.org/articles/pulmonary-interstitial-emphysema?lang=us "DO", https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/p/pulmonary-interstitial-emphysema.html "DO"]
synonym: "interstitial emphysema" EXACT []
xref: ICD10CM:J98.2
xref: ICD9CM:518.1
xref: NCI:C34571
is_a: DOID:9001931 ! Hereditary Pulmonary Emphysema

[Term]
id: DOID:10031
name: compensatory emphysema
def: "A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung. (DO)" [https://en.wikipedia.org/wiki/Pneumatosis "DO", https://www.google.com/books/edition/Airway_Stenting_in_Interventional_Radiol/oQ92DwAAQBAJ?hl=en&gbpv=1&dq=Compensatory+emphysema&pg=PA27 "DO"]
xref: ICD10CM:J98.3
xref: ICD9CM:518.2
is_a: DOID:9001931 ! Hereditary Pulmonary Emphysema

[Term]
id: DOID:10032
name: hyperlucent lung
def: "A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT. (DO)" [https://journal.chestnet.org/article/S0012-3692(19)31381-9/fulltext "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587024/ "DO"]
synonym: "Hyperlucent Lungs" EXACT []
synonym: "Hyperlucent Thorax" EXACT []
synonym: "MacLeod Syndrome" EXACT []
synonym: "Swyer James Syndrome" EXACT []
synonym: "Unilateral Hyperlucent Lung" EXACT []
synonym: "Unilateral Hyperlucent Lungs" EXACT []
xref: MESH:D019568
is_a: DOID:850 ! lung disease
is_a: DOID:9001931 ! Hereditary Pulmonary Emphysema

[Term]
id: DOID:10033
name: cycloplegia
def: "An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation. (DO)" [https://en.wikipedia.org/wiki/Cycloplegia "DO"]
synonym: "ciliary muscle paresis" EXACT []
synonym: "cycloplegic paralysis of accommodation" EXACT []
synonym: "paresis of accommodation" EXACT []
xref: EFO:0005758
xref: ICD10CM:H52.52
xref: ICD9CM:367.51
is_a: DOID:10034 ! eye accommodation disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:10034
name: eye accommodation disease
def: "An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20582770 "DO"]
xref: ICD10CM:H52.5
xref: ICD9CM:367.5
is_a: DOID:5614 ! eye disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:10035
name: asymptomatic neurosyphilis
def: "A tertiary neurosyphilis that results_in mild meningitis. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO"]
xref: ICD10CM:A52.2
xref: ICD9CM:094.3
xref: RDO:9002434
is_a: DOID:9988 ! tertiary neurosyphilis
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:10039
name: late congenital syphilis
def: "A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. (DO)" [http://en.wikipedia.org/wiki/Late_congenital_syphilis "DO", http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html "DO"]
synonym: "juvenile neurosyphilis" EXACT []
xref: EFO:0007339
xref: ICD10CM:A50.40
xref: ICD10CM:A50.5
xref: ICD9CM:090.4
xref: ICD9CM:090.5
xref: RDO:9002435
is_a: DOID:9856 ! congenital syphilis
is_a: DOID:9988 ! tertiary neurosyphilis
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:10040
name: malignant eyelid melanoma
def: "A skin melanoma that arises from the upper or lower eyelid. (DO)" [https://eyewiki.aao.org/Malignant_Melanoma_of_the_Eyelid "DO"]
xref: NCI:C4358
is_a: DOID:0060116 ! sensory system cancer
is_a: DOID:2173 ! eyelid benign neoplasm
is_a: DOID:8923 ! skin melanoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:10041
name: dysplastic nevus syndrome
def: "A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/familial-atypical-multiple-mole-melanoma-syndrome "DO"]
synonym: "B K mole syndrome" EXACT []
synonym: "dysplastic nevi" EXACT []
synonym: "dysplastic nevus" EXACT []
synonym: "familial atypical multiple mole-melanoma" EXACT []
synonym: "FAMMM" EXACT []
synonym: "FAMM syndrome" EXACT []
xref: EFO:0004199
xref: GARD:9281
xref: MESH:D004416
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9002969 ! Nevus
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:10044
name: balloon cell malignant melanoma
def: "A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27984232/ "DO"]
xref: NCI:C4227
is_a: DOID:8923 ! skin melanoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:10047
name: nodular malignant melanoma
def: "A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. (DO)" [http://en.wikipedia.org/wiki/Nodular_melanoma "DO", http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/ "DO"]
synonym: "nodular melanoma" EXACT [SNOMEDCT_2005_07_31:2142002]
xref: EFO:0008515
xref: GARD:9961
xref: NCI:C4225
xref: RDO:9003243
is_a: DOID:8923 ! skin melanoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:1005
name: endometrial disease
def: "A uterine disease that is located_in the endometrium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25100707 "DO"]
synonym: "endometrial diseases" EXACT []
xref: NCI:C3504
is_a: DOID:345 ! uterine disease

[Term]
id: DOID:10054
name: skin amelanotic melanoma
def: "A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells. (DO)" [https://dermnetnz.org/topics/amelanotic-melanoma/ "DO"]
synonym: "skin amelanotic malignant melanoma" EXACT []
xref: EFO:0002894
xref: NCI:C4633
is_a: DOID:4359 ! amelanotic melanoma
is_a: DOID:8923 ! skin melanoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:10069
name: subglottis benign neoplasm
def: "A laryngeal benign neoplasm that is located_in the subglottic area of the larynx. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4427 "DO"]
synonym: "subglottic tumor" EXACT []
xref: NCI:C4426
is_a: DOID:2598 ! laryngeal benign neoplasm

[Term]
id: DOID:10070
name: larynx leiomyoma
def: "A laryngeal benign neoplasm that derives_from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20737370 "DO"]
xref: NCI:C6027
is_a: DOID:127 ! leiomyoma
is_a: DOID:2598 ! laryngeal benign neoplasm
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:10071
name: larynx squamous papilloma
def: "A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK562327/ "DO"]
synonym: "Laryngeal Squamous Cell Papilloma" EXACT []
xref: NCI:C7742
is_a: DOID:2598 ! laryngeal benign neoplasm

[Term]
id: DOID:10073
name: syphilitic meningitis
def: "A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord. (DO)" [https://medlineplus.gov/ency/article/000724.htm "DO"]
synonym: "meningeal syphilis" EXACT []
synonym: "syphilitic aseptic meningitis" EXACT []
xref: GARD:8731
xref: ICD9CM:094.2
xref: MESH:C536775
is_a: DOID:9001414 ! Neurosyphilis
is_a: DOID:9470 ! bacterial meningitis

[Term]
id: DOID:10074
name: hymenolepiasis
def: "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. (DO)" [http://en.wikipedia.org/wiki/Hymenolepiasis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001378.htm "DO"]
synonym: "dwarf tapeworm infection" EXACT []
synonym: "Hymenolepiases" EXACT []
synonym: "Hymenolepis Infection" EXACT []
synonym: "Hymenolepis Infections" EXACT []
synonym: "hymenolepis infectious disease" EXACT []
xref: EFO:0007317
xref: GARD:2787
xref: ICD10CM:B71.0
xref: ICD9CM:123.6
xref: MESH:D006925
xref: NCI:C84768
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:9006970 ! Cestode Infections

[Term]
id: DOID:10075
name: diphyllobothriasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. (DO)" [http://en.wikipedia.org/wiki/Diphyllobothrium "DO", http://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm "DO"]
synonym: "Diphyllobothriases" EXACT []
synonym: "Diphyllobothrium infection" EXACT []
synonym: "fish tapeworm" EXACT []
xref: EFO:0007238
xref: GARD:942
xref: ICD10CM:B70.0
xref: ICD9CM:123.4
xref: MESH:D004169
xref: NCI:C128391
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:9006970 ! Cestode Infections

[Term]
id: DOID:10079
name: cysticercosis
def: "A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. (DO)" [http://en.wikipedia.org/wiki/Cysticercosis "DO"]
synonym: "cysticercoses" EXACT []
synonym: "intestinal taenia solium infection" EXACT []
synonym: "pork tapeworm infection" EXACT []
synonym: "tapeworm infection intestinal taenia solum" EXACT []
synonym: "tenia solium infectious disease" EXACT []
xref: EFO:0007231
xref: GARD:8194
xref: ICD10CM:B69
xref: ICD9CM:123.1
xref: MESH:D003551
xref: NCI:C34520
is_a: DOID:0050596 ! taeniasis
is_a: DOID:114 ! heart disease
is_a: DOID:5614 ! eye disease
is_a: DOID:66 ! muscle tissue disease
is_a: DOID:9000025 ! Central Nervous System Infections
is_a: DOID:9007630 ! Parasitic Skin Diseases

[Term]
id: DOID:10080
name: sparganosis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. (DO)" [http://en.wikipedia.org/wiki/Sparganosis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm "DO"]
synonym: "infection by Sparganum" EXACT []
synonym: "sparganoses" EXACT []
xref: EFO:0007488
xref: ICD10CM:B70.1
xref: ICD9CM:123.5
xref: MESH:D013031
xref: NCI:C35030
is_a: DOID:0080784 ! urinary tract infection
is_a: DOID:10075 ! diphyllobothriasis
is_a: DOID:2952 ! inner ear disease
is_a: DOID:3463 ! breast disease
is_a: DOID:850 ! lung disease
is_a: DOID:936 ! brain disease

[Term]
id: DOID:10081
name: syphilitic encephalitis
def: "An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum. (DO)" [https://link.springer.com/article/10.1007/s10072-017-3109-0 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884904/ "DO"]
xref: ICD9CM:094.81
is_a: DOID:9003824 ! Infectious Encephalitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:10087
name: gastric leiomyoma
def: "A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. (DO)" [https://radiopaedia.org/articles/gastric-leiomyoma?lang=us "DO"]
synonym: "leiomyoma of the stomach" EXACT []
xref: NCI:C3876
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:10095
name: intracranial abscess
def: "A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull. (DO)" [https://www.nlm.nih.gov/medlineplus/ency/article/001416.htm "DO"]
xref: ICD9CM:324.0
xref: NCI:C34734
is_a: DOID:331 ! central nervous system disease

[Term]
id: DOID:10112
name: sleeping sickness
def: "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. (DO)" [http://en.wikipedia.org/wiki/African_trypanosomiasis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001362.htm "DO", http://www.who.int/mediacentre/factsheets/fs259/en/ "DO"]
synonym: "African sleeping sickness" EXACT []
synonym: "African trypanosomiasis" EXACT []
synonym: "human African trypanosomiasis" EXACT []
synonym: "Nagana" EXACT []
xref: EFO:0005225
xref: GARD:7826
xref: ICD10CM:B56
xref: ICD9CM:086.5
xref: MESH:D014353
xref: NCI:C84541
xref: ORDO:3385
is_a: DOID:10113 ! trypanosomiasis

[Term]
id: DOID:10113
name: trypanosomiasis
def: "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. (DO)" [http://en.wikipedia.org/wiki/Trypanosomiasis "DO"]
synonym: "Trypanosomiases" EXACT []
xref: ICD10CM:B57.2
xref: ICD9CM:086
xref: MESH:D014352
is_a: DOID:2789 ! parasitic protozoa infectious disease
is_a: DOID:9007293 ! Euglenozoa Infections

[Term]
id: DOID:10122
name: hyperpigmentation of eyelid
alt_id: MIM:145100
def: "An eyelid disease that is characterized by dark eyelids. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756872/ "DO"]
synonym: "dark eyelids" EXACT []
synonym: "dyspigmentation of eyelid" EXACT []
xref: EFO:1000711
xref: ICD10CM:H02.71
xref: ICD9CM:374.52
xref: MESH:C562400
is_a: DOID:530 ! eyelid disease
is_a: DOID:9003984 ! Hyperpigmentation

[Term]
id: DOID:10123
name: pigmentation disease
def: "A skin disease that is characterized by discoloration of the skin. (DO)" [https://medlineplus.gov/skinpigmentationdisorders.html "DO"]
synonym: "incontinentia pigmenti achromians" EXACT []
synonym: "Ito Syndrome" EXACT []
synonym: "Pigmentation Disorder" EXACT []
synonym: "Pigmentation Disorders" EXACT []
synonym: "Schamberg's Disease" EXACT []
synonym: "Schamberg Disease" EXACT []
synonym: "Schambergs disease" EXACT []
xref: EFO:1000755
xref: ICD9CM:709.09
xref: MESH:D010859
xref: MIM:PS227220
is_a: DOID:37 ! skin disease
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:10124
name: corneal disease
def: "An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26731 "DO"]
synonym: "corneal diseases" EXACT []
xref: EFO:0009464
xref: ICD10CM:H18.9
xref: ICD9CM:371.9
xref: MESH:D003316
xref: NCI:C26731
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:10125
name: acute hydrops keratoconus
def: "A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane. (DO)" [https://en.wikipedia.org/wiki/Corneal_hydrops "DO", https://webeye.ophth.uiowa.edu/eyeforum/cases/241-acute-corneal-hydrops.htm "DO"]
xref: ICD9CM:371.62
is_a: DOID:10126 ! keratoconus
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10126
name: keratoconus
def: "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. (DO)" [http://en.wikipedia.org/wiki/Keratoconus "DO", http://ghr.nlm.nih.gov/glossary=keratoconus "DO"]
synonym: "conical cornea" EXACT []
xref: EFO:0004223
xref: GARD:6824
xref: ICD10CM:H18.6
xref: ICD9CM:371.6
xref: MESH:D007640
xref: MIM:PS148300
xref: MONDO:0015486
xref: NCI:C26806
xref: ORDO:156071
is_a: DOID:10124 ! corneal disease

[Term]
id: DOID:10127
name: cerebral artery occlusion
def: "A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8584085/ "DO"]
xref: ICD9CM:434
is_a: DOID:3527 ! cerebral arterial disease
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:10128
name: venous insufficiency
def: "A vein disease that is characterized by impaired flow of blood through the veins. (DO)" [http://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000203.htm "DO"]
synonym: "peripheral venous insufficiency" EXACT []
synonym: "Venous Insufficiencies" EXACT []
xref: ICD9CM:459.81
xref: MESH:D014689
xref: NCI:C127822
is_a: DOID:866 ! vein disease

[Term]
id: DOID:10131
name: psychologic vaginismus
def: "A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. (DO)" [https://my.clevelandclinic.org/health/diseases/15723-vaginismus "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35113 "DO"]
synonym: "functional vaginismus" EXACT []
synonym: "non-organic vaginismus" EXACT []
synonym: "psychogenic vaginismus" EXACT []
synonym: "vaginismus" EXACT []
xref: ICD10CM:F52.5
xref: ICD9CM:306.51
xref: MESH:D052065
xref: NCI:C35113
is_a: DOID:10132 ! psychosexual disorder
is_a: DOID:121 ! vaginal disease
is_a: DOID:1876 ! sexual dysfunction

[Term]
id: DOID:10132
name: psychosexual disorder
def: "A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin. (DO)" [https://en.wikipedia.org/wiki/Psychosexual_disorder "DO"]
synonym: "psychological sexual dysfunction" EXACT []
synonym: "psychological sexual dysfunctions" EXACT []
synonym: "psychosexual disorders" EXACT []
synonym: "psychosexual dysfunction" EXACT []
synonym: "psychosexual dysfunctions" EXACT []
xref: ICD9CM:302.79
is_a: DOID:0060043 ! sexual health disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:10138
name: xerophthalmia
def: "A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency. (DO)" [https://www.nature.com/articles/eye201417 "DO", https://www.ncbi.nlm.nih.gov/books/NBK431094/ "DO"]
synonym: "conjunctival xerosis" EXACT []
synonym: "Xerophthalmias" EXACT []
xref: ICD10CM:E50.7
xref: ICD9CM:375.15
xref: MESH:D014985
xref: NCI:C34503
is_a: DOID:10140 ! dry eye syndrome
is_a: DOID:4251 ! conjunctival disease

[Term]
id: DOID:10139
name: conjunctival degeneration
xref: ICD10CM:H11.10
xref: ICD9CM:372.50
is_a: DOID:4251 ! conjunctival disease
is_a: DOID:9799 ! eye degenerative disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:10140
name: dry eye syndrome
def: "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29498987/ "DO"]
synonym: "dry eye disease" EXACT []
synonym: "dry eye syndromes" EXACT []
synonym: "tear film insufficiency" EXACT []
xref: EFO:1000906
xref: ICD10CM:H04.12
xref: MESH:D015352
xref: NCI:C34553
is_a: DOID:1400 ! lacrimal apparatus disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:10146
name: thymus lymphoma
def: "A thymus cancer that arises from the thymus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12063471/ "DO"]
synonym: "lymphoma of thymus" EXACT []
synonym: "primary thymic lymphoma" EXACT []
synonym: "thymic lymphoma" EXACT []
xref: EFO:1000054
xref: NCI:C134997
xref: NCI:C6451
is_a: DOID:0060058 ! lymphoma
is_a: DOID:3277 ! thymus cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:10149
name: long bones of lower limb cancer
def: "A bone cancer that is manifested in the long bones of the lower limb. (DO)" [http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm "DO"]
synonym: "malignant neoplasm of long bones of leg" EXACT []
xref: ICD10CM:C40.2
xref: ICD9CM:170.7
is_a: DOID:184 ! bone cancer

[Term]
id: DOID:10151
name: malignant neoplasm of short bones of lower limb
def: "A bone cancer that is located in the short bones of lower limbs. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145567/ "DO"]
synonym: "malignant neoplasm of short bone of lower limb" EXACT [SNOMEDCT_2005_07_31:94003005]
synonym: "malignant neoplasm of short bones of leg" EXACT [SNOMEDCT_2005_07_31:187964009]
xref: ICD10CM:C40.3
xref: ICD9CM:170.8
is_a: DOID:10149 ! long bones of lower limb cancer

[Term]
id: DOID:10152
name: Meckel's diverticulum cancer
def: "An ileum cancer originating from Meckel's diverticulum. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6582065/ "DO"]
synonym: "malignant neoplasm of Meckel's diverticulum" EXACT []
synonym: "Meckel diverticulum cancer" EXACT []
xref: ICD9CM:152.3
is_a: DOID:10153 ! ileum cancer

[Term]
id: DOID:10153
name: ileum cancer
def: "A small intestine cancer that is located_in the ileum. (DO)" [http://en.wikipedia.org/wiki/Ileum "DO"]
synonym: "cancer of ileum" EXACT []
synonym: "cancer of the ileum" EXACT []
synonym: "ileal cancer" EXACT []
synonym: "ileal cancers" EXACT []
synonym: "ileum cancers" EXACT []
synonym: "malignant neoplasm of ileum" EXACT []
xref: ICD10CM:C17.2
xref: ICD9CM:152.2
is_a: DOID:10154 ! small intestine cancer
is_a: DOID:9000670 ! Ileal Neoplasms

[Term]
id: DOID:10154
name: small intestine cancer
def: "An intestinal cancer that is located_in the small intestine. (DO)" [http://en.wikipedia.org/wiki/Small_intestine "DO"]
synonym: "malignant small intestine neoplasm" EXACT []
xref: GARD:9385
xref: ICD10CM:C17
xref: ICD9CM:152.9
xref: MONDO:0000956
xref: NCI:C7523
is_a: DOID:10155 ! intestinal cancer
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:10155
name: intestinal cancer
def: "A gastrointestinal system cancer that is located_in the intestine. (DO)" [http://en.wikipedia.org/wiki/Intestine "DO"]
synonym: "intestinal cancers" EXACT []
synonym: "intestines cancer" EXACT []
synonym: "malignant intestinal tumors" EXACT []
synonym: "malignant neoplasm of intestine" EXACT []
xref: EFO:0007330
xref: ICD10CM:C26.0
xref: ICD9CM:159.0
xref: NCI:C4572
is_a: DOID:3119 ! gastrointestinal system cancer
is_a: DOID:9002245 ! Intestinal Neoplasms
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:10156
name: benign ileal neoplasm
def: "A small intestine benign neoplasm that affects the wall of the ileum. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3130 "DO"]
xref: EFO:1000981
is_a: DOID:7505 ! small intestine benign neoplasm
is_a: DOID:9000670 ! Ileal Neoplasms

[Term]
id: DOID:10159
name: osteonecrosis
def: "An ischemic bone disease that results_in necrosis located_in bone. (DO)" [http://en.wikipedia.org/wiki/Avascular_necrosis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm "DO"]
synonym: "aseptic necrosis" EXACT []
synonym: "aseptic necrosis of bone" EXACT []
synonym: "avascular necrosis of bone" EXACT []
synonym: "Bone Aseptic Necrosis" EXACT []
synonym: "Bone Avascular Necrosis" EXACT []
synonym: "bone necroses" EXACT []
synonym: "Bone Necrosis" EXACT []
synonym: "Kienbock's Disease" NARROW []
synonym: "Kienbock Disease" NARROW []
synonym: "Kienboeck's disease" NARROW []
synonym: "Kienboeck Disease" NARROW []
synonym: "Kienboecks disease" NARROW []
synonym: "osteonecroses" EXACT []
xref: EFO:0004259
xref: ICD10CM:M87
xref: ICD10CM:M87.9
xref: ICD9CM:732.3
xref: ICD9CM:733.41
xref: ICD9CM:733.42
xref: ICD9CM:733.43
xref: ICD9CM:733.44
xref: MESH:D010020
xref: MIM:PS608805
xref: NCI:C34404
xref: NCI:C34841
xref: NCI:C34880
xref: NCI:C35226
xref: NCI:C35517
is_a: DOID:0080008 ! ischemic bone disease
is_a: DOID:9005749 ! Necrosis

[Term]
id: DOID:10174
name: lacrimal passage granuloma
synonym: "Granuloma of lacrimal passages" EXACT [ICD9CM_2006:375.81]
xref: ICD10CM:H04.81
xref: ICD9CM:375.81
xref: RDO:9004728
is_a: DOID:1400 ! lacrimal apparatus disease
is_a: DOID:530 ! eyelid disease
is_a: DOID:9002019 ! Granuloma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:10175
name: optic papillitis
def: "An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc. (DO)" [https://en.wikipedia.org/wiki/Optic_papillitis "DO"]
synonym: "papillitis" EXACT []
xref: EFO:1001074
xref: ICD10CM:H35.81
xref: ICD10CM:H47.1
xref: ICD10CM:H47.11
xref: ICD9CM:362.83
xref: ICD9CM:377.0
xref: ICD9CM:377.01
is_a: DOID:1210 ! optic neuritis
is_a: DOID:146 ! papilledema

[Term]
id: DOID:10176
name: neuroretinitis
def: "An eye disease that is characterized by inflammation of the retina. (DO)" [https://eyewiki.aao.org/Neuroretinitis "DO"]
synonym: "juxtapapillary focal retinitis and retinochoroiditis" EXACT []
synonym: "papilloretinitis" EXACT []
is_a: DOID:3612 ! retinitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:10177
name: malignant hypertensive renal disease
xref: RDO:9002843
is_a: DOID:1073 ! renal hypertension
is_a: DOID:10824 ! malignant hypertension
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:10183
name: endobronchial lipoma
def: "A lipoma that is located within the lumen of a bronchus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563533/ "DO"]
xref: NCI:C5063
is_a: DOID:3315 ! lipoma
is_a: DOID:3906 ! bronchial benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10184
name: spindle cell lipoma
def: "A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. (DO)" [http://en.wikipedia.org/wiki/Lipoma "DO"]
xref: ICDO:8857/0
xref: NCI:C4254
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10187
name: esophageal lipoma
def: "A lipoma located in the esophagus. (DO)" [https://radiopaedia.org/articles/oesophageal-lipoma?lang=us "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043252/ "DO"]
synonym: "lipoma of esophagus" EXACT []
xref: NCI:C5701
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:3315 ! lipoma
is_a: DOID:9000117 ! Esophageal Neoplasms
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:10188
name: skin lipoma
def: "A skin benign neoplasm that derives_from fat cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23600336 "DO"]
synonym: "cutaneous lipoma" EXACT []
synonym: "cutaneous lipomatous tumor" EXACT []
synonym: "lipoma of face" EXACT []
synonym: "lipoma of skin" EXACT []
xref: ICD9CM:214.0
xref: NCI:C4616
xref: NCI:C5566
is_a: DOID:3165 ! skin benign neoplasm
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:1019
name: osteomyelitis
def: "A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow. (DO)" [http://en.wikipedia.org/wiki/Osteomyelitis "DO", http://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx "DO", http://www.mayoclinic.com/health/osteomyelitis/DS00759 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000437.htm "DO"]
synonym: "osteomyelitides" EXACT []
xref: EFO:0003102
xref: GARD:7286
xref: ICD9CM:730.1
xref: MESH:D010019
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:1564 ! fungal infectious disease
is_a: DOID:3342 ! bone inflammation disease
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9007047 ! Infectious Bone Diseases

[Term]
id: DOID:10190
name: liver lipoma
def: "A lipoma located in the liver. (DO)" [https://radiopaedia.org/articles/hepatic-lipoma-2?lang=us "DO"]
synonym: "hepatic lipoma" EXACT []
synonym: "lipoma of the liver" EXACT []
xref: NCI:C5750
is_a: DOID:3315 ! lipoma
is_a: DOID:916 ! liver benign neoplasm
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:10192
name: pleomorphic lipoma
def: "A lipoma that is characterized by floret giant cells with overlapping nuclei. (DO)" [http://en.wikipedia.org/wiki/Pleomorphic_lipoma "DO"]
synonym: "pleomorphic lipomas" EXACT []
xref: ICDO:8854/0
xref: NCI:C3703
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10193
name: conventional lipoma
def: "A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26857660/ "DO"]
synonym: "classic type lipoma" EXACT []
xref: NCI:C27530
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10194
name: kidney lipoma
def: "A lipoma that is located in the kidney. (DO)" [https://www.mayoclinic.org/diseases-conditions/lipoma/symptoms-causes/syc-20374470 "DO"]
synonym: "lipoma of kidney" EXACT []
xref: NCI:C5101
is_a: DOID:3116 ! kidney benign neoplasm
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10195
name: pleural lipoma
def: "A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29222220 "DO"]
synonym: "lipoma of pleura" EXACT []
xref: NCI:C6644
is_a: DOID:0050621 ! respiratory system benign neoplasm
is_a: DOID:3315 ! lipoma
is_a: DOID:9000315 ! Pleural Neoplasms
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10199
name: breast lipoma
def: "A breast benign neoplasm that is composed of lipocytes. (DO)" [https://en.wikipedia.org/wiki/Benign_tumor "DO"]
synonym: "lipoma of breast" EXACT []
xref: NCI:C4647
is_a: DOID:0060082 ! breast benign neoplasm
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10200
name: chest wall lipoma
def: "A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23919840 "DO"]
synonym: "lipoma of the chest wall" EXACT []
xref: NCI:C6719
is_a: DOID:0060097 ! thoracic benign neoplasm
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10201
name: gallbladder lipoma
def: "A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells. (DO)" [https://link.springer.com/referenceworkentry/10.1007%2F978-3-319-26587-2_156-1 "DO"]
synonym: "lipoma of the gallbladder" EXACT []
xref: NCI:C5835
is_a: DOID:0080640 ! gallbladder benign neoplasm
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:10203
name: external ear lipoma
def: "An auditory system benign neoplasm that is located in the external ear. (DO)" [https://clinmedjournals.org/articles/ijdrt/journal-of-dermatology-research-and-therapy-ijdrt-1-010.pdf "DO"]
synonym: "external auditory meatus lipoma" EXACT []
synonym: "lipoma of external auditory meatus" EXACT []
synonym: "lipoma of the external ear" EXACT []
xref: NCI:C4618
is_a: DOID:0080619 ! auditory system benign neoplasm
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:10205
name: axillary lipoma
def: "An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. (DO)" [http://en.wikipedia.org/wiki/Axilla "DO", http://en.wikipedia.org/wiki/Lipoma "DO"]
synonym: "lipoma of axilla" EXACT []
xref: NCI:C35419
is_a: DOID:0060097 ! thoracic benign neoplasm
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:10206
name: lipoma of spermatic cord
def: "A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1422475/ "DO"]
synonym: "spermatic cord lipoma" EXACT []
xref: ICD9CM:214.4
xref: NCI:C3606
is_a: DOID:0060087 ! male reproductive organ benign neoplasm
is_a: DOID:10207 ! paratesticular lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10207
name: paratesticular lipoma
def: "A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11103506/ "DO"]
xref: NCI:C6384
is_a: DOID:0050622 ! reproductive organ benign neoplasm
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10208
name: chondroid lipoma
def: "A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. (DO)" [http://en.wikipedia.org/wiki/Lipoma "DO"]
xref: ICDO:8862/0
xref: NCI:C6503
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10209
name: extrahepatic bile duct lipoma
def: "A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer "DO"]
synonym: "Lipoma of the extrahepatic bile duct" EXACT [NCI2004_11_17:C5854]
xref: NCI:C5854
xref: RDO:9003931
is_a: DOID:0050625 ! biliary tract benign neoplasm
is_a: DOID:3315 ! lipoma
is_a: DOID:4138 ! bile duct disease
is_a: DOID:9002936 ! Bile Duct Neoplasms
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:10211
name: cholelithiasis
def: "Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." [MESH:D002769]
synonym: "Cholelithiases" EXACT []
xref: EFO:0004799
xref: ICD9CM:574.5
xref: MESH:D002769
is_a: DOID:0060262 ! gallbladder disease
is_a: DOID:9741 ! biliary tract disease

[Term]
id: DOID:1022
name: pinta disease
def: "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26304920 "DO"]
synonym: "pinta" EXACT []
xref: EFO:1001396
xref: GARD:7397
xref: ICD10CM:A67.0
xref: ICD10CM:A67.1
xref: ICD10CM:A67.2
xref: ICD10CM:A67.3
xref: ICD10CM:A67.9
xref: ICD9CM:103
xref: ICD9CM:103.0
xref: ICD9CM:103.1
xref: ICD9CM:103.2
xref: ICD9CM:103.3
xref: MESH:D010874
xref: NCI:C85011
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9000746 ! Treponemal Infections
is_a: DOID:9003209 ! Bacterial Skin Diseases

[Term]
id: DOID:10223
name: dermatomyositis
def: "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. (DO)" [http://en.wikipedia.org/wiki/Dermatomyositis "DO", http://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis "DO"]
synonym: "dermatomyositides" EXACT []
synonym: "dermatopolymyositides" EXACT []
synonym: "Dermatopolymyositis" EXACT []
synonym: "polymyositis-dermatomyositides" EXACT []
synonym: "polymyositis dermatomyositis" EXACT []
synonym: "polymyositis with skin involvement" EXACT []
synonym: "sclerodermatomyositis" NARROW []
xref: EFO:0000398
xref: EFO:1001995
xref: GARD:6263
xref: ICD10CM:M33
xref: ICD9CM:710.3
xref: MESH:D003882
xref: NCI:C26744
xref: ORDO:221
is_a: DOID:0080745 ! polymyositis
is_a: DOID:37 ! skin disease
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:1023
name: borderline leprosy
def: "A leprosy that results in small numerous red irregularly shaped plaques. (DO)" [http://en.wikipedia.org/wiki/Borderline_leprosy "DO"]
synonym: "Borderline Leprosies" EXACT []
synonym: "borderline or dimorphous leprosy" EXACT []
synonym: "Dimorphous Leprosies" EXACT []
synonym: "Dimorphous Leprosy" EXACT []
synonym: "midborderline leprosy" EXACT []
xref: EFO:0001055
xref: ICD10CM:A30.3
xref: ICD9CM:030.3
xref: MESH:D015439
is_a: DOID:9001594 ! Paucibacillary Leprosy

[Term]
id: DOID:10230
name: aortic atherosclerosis
synonym: "atherosclerosis of aorta" EXACT []
xref: ICD10CM:I70.0
xref: ICD9CM:440.0
is_a: DOID:1936 ! atherosclerosis
is_a: DOID:520 ! aortic disease
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:10234
name: histoplasmosis pericarditis
synonym: "histoplasmosis with pericarditis" EXACT []
xref: ICD9CM:115.93
is_a: DOID:1731 ! histoplasmosis
is_a: DOID:1787 ! pericarditis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10235
name: Brown's tendon sheath syndrome
def: "A mechanical strabismus that is characterized by impairment of eye movements. (DO)" [https://rarediseases.org/rare-diseases/brown-syndrome/ "DO"]
synonym: "Brown's sheath syndrome" EXACT []
synonym: "Brown tendon sheath syndrome" EXACT []
synonym: "tendon sheath syndrome of Brown" EXACT []
xref: GARD:5963
xref: ICD10CM:H50.61
xref: ICD9CM:378.61
is_a: DOID:9306 ! mechanical strabismus

[Term]
id: DOID:10236
name: exhibitionism
def: "A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger. (DO)" [https://www.britannica.com/topic/exhibitionism "DO"]
synonym: "exhibitionisms" EXACT []
xref: ICD10CM:F65.2
xref: ICD9CM:302.4
xref: MESH:D005084
xref: NCI:C94352
is_a: DOID:0060044 ! paraphilia disorder

[Term]
id: DOID:1024
name: leprosy
alt_id: MIM:246300
alt_id: MIM:607572
alt_id: MIM:609888
alt_id: MIM:610988
alt_id: MIM:613223
alt_id: MIM:613407
def: "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage. (DO)" [http://en.wikipedia.org/wiki/Leprosy "DO"]
synonym: "Hansen's disease" EXACT []
synonym: "Hansen disease" EXACT []
synonym: "Hansens Disease" EXACT []
synonym: "Leprosies" EXACT []
synonym: "LEPROSY, EARLY-ONSET, SUSCEPTIBILITY TO" NARROW []
synonym: "LEPROSY, PAUCIBACILLARY TYPE, SUSCEPTIBILITY TO, 1" EXACT []
synonym: "LEPROSY, PROTECTION AGAINST" NARROW []
synonym: "leprosy, susceptibility to, 1" RELATED []
synonym: "leprosy, susceptibility to, 2" RELATED []
synonym: "leprosy, susceptibility to, 3" RELATED []
synonym: "leprosy, susceptibility to, 4" RELATED []
synonym: "leprosy, susceptibility to, 5" RELATED []
synonym: "leprosy, susceptibility to, 6" RELATED []
synonym: "LPRS1" RELATED []
synonym: "LPRS2" RELATED []
synonym: "LPRS3" RELATED []
synonym: "LPRS4" RELATED []
synonym: "LPRS5" RELATED []
synonym: "LPRS6" RELATED []
synonym: "susceptibility to leprosy and multibacillary leprosy" RELATED []
xref: EFO:0001054
xref: GARD:6886
xref: ICD10CM:A30
xref: ICD9CM:030
xref: MESH:D007918
xref: NCI:C84824
xref: ORDO:548
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:2519 ! testicular disease
is_a: DOID:5614 ! eye disease
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9001415 ! Mycobacterium Infections
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:10241
name: thalassemia
def: "A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains. (DO)" [https://www.genome.gov/Genetic-Disorders/Thalassemia "DO", https://www.ncbi.nlm.nih.gov/pubmed/11283697 "DO"]
synonym: "hemoglobin J (Baltimore)" RELATED []
synonym: "hemoglobin Karatsu" RELATED []
synonym: "Hemoglobin Lepore (Augusta)" RELATED []
synonym: "Hemoglobin Lepore (Baltimore)" RELATED []
synonym: "Hemoglobin Lepore (Boston)" RELATED []
synonym: "Hemoglobin Lepore (Hollandia)" RELATED []
synonym: "Hemoglobin Lepore (Washington)" RELATED []
synonym: "Hemoglobin Lepore Trait" RELATED []
synonym: "Hemoglobin Pylos" RELATED []
synonym: "hemoglobin Riyadh" RELATED []
synonym: "hemoglobin Tunis-Bizerte" RELATED []
synonym: "sickle-cell thalassemia with crisis" EXACT []
synonym: "sickle-cell thalassemia without crisis" EXACT []
synonym: "thalassemia Hb-S disease with crisis" EXACT []
synonym: "thalassemia Hb-S disease without crisis" EXACT []
synonym: "thalassemias" EXACT []
xref: EFO:1001996
xref: GARD:7756
xref: ICD10CM:D56
xref: ICD9CM:282.4
xref: MESH:D013789
xref: MONDO:0000984
xref: NCI:C35069
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11252 ! microcytic anemia
is_a: DOID:2860 ! hemoglobinopathy

[Term]
id: DOID:10242
name: ehrlichiosis
def: "A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. (DO)" [http://en.wikipedia.org/wiki/Ehrlichiosis "DO"]
synonym: "Ehrlichioses" EXACT []
synonym: "human ehrlichiosis" EXACT []
xref: GARD:2092
xref: ICD10CM:A77.4
xref: ICD9CM:082.4
xref: MESH:D016873
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9008029 ! Anaplasmataceae Infections

[Term]
id: DOID:10247
name: pleurisy
def: "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. (DO)" [http://en.wikipedia.org/wiki/Pleurisy "DO", http://www.merck.com/mmhe/sec04/ch052/ch052b.html#sb052_2 "DO"]
synonym: "pleurisies" EXACT []
synonym: "pleuritides" EXACT []
synonym: "pleuritis" EXACT []
xref: EFO:1001825
xref: ICD10CM:R09.1
xref: ICD9CM:511.8
xref: MESH:D010998
xref: NCI:C26860
is_a: DOID:1532 ! pleural disease
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:1025
name: tuberculoid leprosy
def: "A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center. (DO)" [http://en.wikipedia.org/wiki/Tuberculoid_leprosy "DO"]
synonym: "macular leprosies" EXACT []
synonym: "Macular Leprosy" EXACT []
synonym: "Neural Leprosies" EXACT []
synonym: "Neural Leprosy" EXACT []
synonym: "smooth leprosy" EXACT []
synonym: "tuberculoid leprosies" EXACT []
synonym: "type T leprosy" EXACT []
xref: EFO:0001056
xref: ICD10CM:A30.1
xref: ICD9CM:030.1
xref: MESH:D015441
is_a: DOID:9001594 ! Paucibacillary Leprosy

[Term]
id: DOID:10250
name: louping ill
def: "A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15606630 "DO"]
xref: EFO:0007348
xref: ICD10CM:A84.89
xref: ICD9CM:063.1
xref: MESH:D008146
is_a: DOID:9004146 ! Flavivirus Infections
is_a: DOID:9006097 ! Sheep Diseases

[Term]
id: DOID:10254
name: strawberry gallbladder
synonym: "cholesterolosis of gallbladder" EXACT []
xref: ICD10CM:K82.4
xref: ICD9CM:575.6
is_a: DOID:0060262 ! gallbladder disease

[Term]
id: DOID:10261
name: otorrhea
def: "An auditory system disease that is characterized by the discharge or drainage of fluid from the ear. (DO)" [https://medlineplus.gov/ency/article/003042.htm "DO"]
synonym: "discharging ear" EXACT []
xref: ICD10CM:H92.1
xref: ICD9CM:388.6
xref: NCI:C35199
is_a: DOID:2742 ! auditory system disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:10264
name: mumps
def: "A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. (DO)" [http://www.cdc.gov/mumps/about/downloads/mumps-factsheet.pdf "DO"]
synonym: "epidemic parotitides" EXACT []
synonym: "epidemic parotitis" EXACT []
synonym: "Mumps virus infectious disease" EXACT []
xref: EFO:0007383
xref: GARD:7116
xref: ICD10CM:B26
xref: ICD9CM:072
xref: MESH:D009107
xref: NCI:C29888
is_a: DOID:10301 ! parotitis
is_a: DOID:10883 ! herpangina
is_a: DOID:9002710 ! Rubulavirus Infections

[Term]
id: DOID:10266
name: subendocardial infarction acute myocardial infarction
xref: ICD9CM:410.7
is_a: DOID:9408 ! acute myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:10272
name: left bundle branch hemiblock
synonym: "left bundle branch block" EXACT []
xref: ICD10CM:I44.60
xref: ICD9CM:426.2
xref: RDO:9002668
is_a: DOID:10273 ! heart conduction disease
is_a: DOID:9003912 ! Bundle-Branch Block
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:10273
name: heart conduction disease
def: "A cardiovascular system disease that involves the heart's electrical conduction system. (DO)" [http://en.wikipedia.org/wiki/Conduction_system_of_the_heart "DO"]
synonym: "conduction system disorder" EXACT []
synonym: "heart rhythm disease" EXACT []
xref: EFO:0005137
xref: ICD9CM:426.6
is_a: DOID:114 ! heart disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:10283
name: prostate cancer
def: "A male reproductive organ cancer that is located_in the prostate. (DO)" [http://www.cancer.gov/dictionary?CdrID=445079 "DO", https://www.genome.gov/Genetic-Disorders/Prostate-Cancer "DO"]
synonym: "cancer of prostate" EXACT []
synonym: "cancer of the prostate" EXACT []
synonym: "CYP3A4 PROMOTER POLYMORPHISM, Cyp3a4-v" RELATED []
synonym: "familial prostate cancer" NARROW []
synonym: "GEN1-RELATED PROSTATE CANCER" NARROW []
synonym: "malignant tumor of prostate" EXACT []
synonym: "malignant tumor of the prostate" EXACT []
synonym: "NGP - new growth of prostate" EXACT []
synonym: "PROSTATE CANCER, PROGRESSION AND METASTASIS OF" NARROW []
synonym: "prostate cancers" EXACT []
synonym: "prostate cancer, susceptibility to" RELATED []
synonym: "prostate cancer, susceptibility to, in African Americans" RELATED []
synonym: "prostatic cancer" EXACT []
synonym: "tumor of the prostate" EXACT []
xref: EFO:0000196
xref: ICD10CM:C61
xref: ICD9CM:185
xref: MIM:176807
xref: MONDO:0008315
xref: NCI:C3343
xref: NCI:C7378
xref: ORDO:1331
is_a: DOID:3856 ! male reproductive organ cancer
is_a: DOID:9002304 ! Prostatic Neoplasms
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:10286
name: prostate carcinoma
def: "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "carcinoma of prostate" EXACT []
synonym: "metastatic prostate carcinoma" NARROW []
xref: EFO:0001663
xref: NCI:C128122
xref: NCI:C4863
is_a: DOID:10283 ! prostate cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:10287
name: prostate squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the prostate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23877521 "DO"]
synonym: "squamous cell carcinoma of prostate" RELATED []
synonym: "squamous cell carcinoma of the prostate" EXACT [NCI2004_11_17:C5536]
xref: NCI:C5536
xref: RDO:9001822
is_a: DOID:10286 ! prostate carcinoma
is_a: DOID:1749 ! squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:10289
name: prostate malignant phyllodes tumor
def: "A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland. (DO)" [https://www.hindawi.com/journals/jo/2009/241270/ "DO"]
synonym: "malignant phyllodes neoplasm of the prostate" EXACT []
synonym: "malignant phyllodes tumor of prostate" EXACT []
synonym: "phyllodes tumor of the prostate" EXACT []
xref: MESH:C549759
xref: NCI:C5531
is_a: DOID:10283 ! prostate cancer
is_a: DOID:9004240 ! Phyllodes Tumor

[Term]
id: DOID:1029
name: familial periodic paralysis
def: "A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells. (DO)" [https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/periodic-paralysis.html "DO", https://www.ninds.nih.gov/Disorders/All-Disorders/Familial-Periodic-Paralyses-Information-Page "DO"]
synonym: "familial periodic paralyses" EXACT []
synonym: "normokalemic periodic paralyses" EXACT []
synonym: "normokalemic periodic paralysis" EXACT []
xref: GARD:6422
xref: MESH:D010245
xref: NCI:C84709
is_a: DOID:0080000 ! muscular disease
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:10290
name: prostate lymphoma
def: "A prostate cancer that affects lymphocytes and arises from the prostate gland. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6614933/ "DO"]
synonym: "lymphoma of prostate" EXACT []
synonym: "lymphoma of the prostate" EXACT []
xref: NCI:C5533
is_a: DOID:0060058 ! lymphoma
is_a: DOID:10283 ! prostate cancer
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:10293
name: monocular esotropia
def: "An esotropia that is characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance. (DO)" [https://en.wikipedia.org/wiki/Esotropia "DO"]
xref: ICD10CM:H50.01
xref: ICD9CM:378.01
is_a: DOID:9840 ! esotropia
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:10300
name: Raynaud disease
alt_id: MIM:179600
def: "A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress. (DO)" [https://medlineplus.gov/raynaudsdisease.html "DO", https://www.hopkinsmedicine.org/health/conditions-and-diseases/raynauds-phenomenon "DO"]
synonym: "hereditary cold fingers" EXACT []
synonym: "Raynaud's disease" EXACT []
synonym: "Raynaud's syndrome" EXACT []
synonym: "Raynaud Phenomenon" EXACT []
synonym: "Raynauds disease" EXACT []
xref: EFO:1001145
xref: ICD10CM:I73.0
xref: MESH:D011928
is_a: DOID:341 ! peripheral vascular disease

[Term]
id: DOID:10301
name: parotitis
def: "A parotid disease characterized by the inflammation of one or both parotid glands. (DO)" [http://en.wikipedia.org/wiki/Parotitis "DO"]
synonym: "parotiditides" EXACT []
synonym: "parotiditis" EXACT []
synonym: "parotitides" EXACT []
xref: EFO:0007423
xref: ICD10CM:K11.2
xref: MESH:D010309
xref: NCI:C114281
is_a: DOID:10302 ! parotid disease
is_a: DOID:10303 ! sialadenitis

[Term]
id: DOID:10302
name: parotid disease
def: "A salivary gland disease that is located in the parotid gland. (DO)" [https://www.mayoclinic.org/diseases-conditions/parotid-tumor/cdc-20388269 "DO"]
synonym: "parotid diseases" EXACT []
xref: EFO:0007422
xref: MESH:D010305
is_a: DOID:10854 ! salivary gland disease

[Term]
id: DOID:10303
name: sialadenitis
def: "A salivary gland disease that is characterized as an infection of the salivary glands. (DO)" [https://rarediseases.info.nih.gov/diseases/7638/sialadenitis "DO"]
synonym: "chronic sialadenitides" EXACT []
synonym: "Chronic Sialadenitis" EXACT []
synonym: "irradiation-induced sialadenitides" EXACT []
synonym: "Irradiation Induced Sialadenitis" EXACT []
synonym: "Salivary Gland Adenitides" EXACT []
synonym: "Salivary Gland Adenitis" EXACT []
synonym: "Salivary Gland Inflammation" EXACT []
synonym: "Salivary Gland Inflammations" EXACT []
synonym: "Sialadenitides" EXACT []
synonym: "Sialitides" EXACT []
synonym: "Sialitis" EXACT []
synonym: "sialoadenitides" EXACT []
synonym: "sialoadenitis" EXACT []
xref: EFO:1001179
xref: GARD:7638
xref: ICD10CM:K11.20
xref: ICD9CM:527.2
xref: MESH:D012793
xref: NCI:C115165
xref: NCI:C26882
is_a: DOID:10854 ! salivary gland disease

[Term]
id: DOID:10310
name: viral meningitis
def: "A meningitis that has_material_basis_in a viral infection. (DO)" [https://en.wikipedia.org/wiki/Viral_meningitis "DO"]
synonym: "viral meningitides" EXACT []
xref: EFO:1001236
xref: ICD10CM:A87
xref: ICD9CM:047.9
xref: MESH:D008587
xref: NCI:C118298
is_a: DOID:9003736 ! Central Nervous System Viral Diseases
is_a: DOID:9471 ! meningitis

[Term]
id: DOID:10314
name: endocarditis
def: "A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. (DO)" [http://en.wikipedia.org/wiki/Endocarditis "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/endo/ "DO"]
synonym: "endocarditides" EXACT []
xref: EFO:0000465
xref: ICD10CM:I33.9
xref: ICD9CM:421.9
xref: MESH:D004696
xref: NCI:C34582
xref: NCI:C35432
is_a: DOID:0050825 ! endocardium disease
is_a: DOID:114 ! heart disease

[Term]
id: DOID:10316
name: pneumoconiosis
def: "An interstitial lung disease that is caused by the inhalation of dust. (DO)" [http://en.wikipedia.org/wiki/Pneumoconiosis "DO"]
synonym: "pneumoconioses" EXACT []
xref: ICD10CM:J64
xref: ICD9CM:505
xref: MESH:D011009
xref: MONDO:0015926
xref: NCI:C26861
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:9000310 ! Lung Injury
is_a: DOID:9005463 ! Occupational Diseases

[Term]
id: DOID:10319
name: mixed mineral dust pneumoconiosis
def: "A pneumoconiosis caused by the inhalation of mixed mineral dust particles. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6928373/ "DO"]
xref: NCI:C27559
is_a: DOID:10316 ! pneumoconiosis
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:10320
name: asbestosis
def: "A pneumoconiosis caused by inhalation and retention of asbestos fibers. (DO)" [http://en.wikipedia.org/wiki/Asbestosis "DO"]
synonym: "Asbestoses" EXACT []
synonym: "Idiopathic Interstitial Pneumonitis - from Asbestos Exposure" EXACT []
synonym: "Pulmonary Fibrosis - from Asbestos Exposure" EXACT []
xref: EFO:0007153
xref: GARD:5852
xref: ICD10CM:J61
xref: ICD9CM:501
xref: MESH:D001195
xref: NCI:C84573
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10321
name: baritosis
def: "A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. (DO)" [https://rarediseases.info.nih.gov/diseases/8371/baritosis "DO"]
synonym: "deposition of barium in the lungs" EXACT []
synonym: "inhalation of barytes" EXACT []
xref: GARD:8371
xref: MESH:C537080
xref: NCI:C34410
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10322
name: berylliosis
def: "A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. (DO)" [http://en.wikipedia.org/wiki/Berylliosis "DO"]
synonym: "beryllioses" EXACT []
synonym: "beryllium disease" EXACT []
synonym: "beryllium poisoning" EXACT []
xref: EFO:0007168
xref: ICD10CM:J63.2
xref: MESH:D001607
is_a: DOID:0060496 ! respiratory allergy
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10323
name: byssinosis
def: "A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767605/ "DO"]
synonym: "Brown Lung" EXACT []
synonym: "Brown Lung Disease" EXACT []
synonym: "Brown Lung Diseases" EXACT []
synonym: "Brown Lungs" EXACT []
synonym: "Byssinoses" EXACT []
synonym: "cotton mill fever" EXACT []
synonym: "flax-dressers' disease" EXACT []
synonym: "stripper's asthma" EXACT []
xref: EFO:1000851
xref: GARD:5976
xref: ICD10CM:J66.0
xref: MESH:D002095
xref: NCI:C84605
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10324
name: anthracosilicosis
def: "A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765255/ "DO"]
synonym: "anthracosilicoses" EXACT []
xref: EFO:1000813
xref: ICD10CM:J60
xref: MESH:D000874
xref: NCI:C34389
is_a: DOID:10325 ! silicosis
is_a: DOID:10327 ! anthracosis

[Term]
id: DOID:10325
name: silicosis
def: "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. (DO)" [http://en.wikipedia.org/wiki/Silicosis "DO"]
synonym: "pneumoconiosis due to silicates" EXACT []
synonym: "silica pneumoconiosis" EXACT []
synonym: "Silicoses" EXACT []
synonym: "silicotic fibrosis of lung" EXACT []
xref: EFO:0007485
xref: GARD:7647
xref: ICD10CM:J62
xref: ICD10CM:J62.8
xref: ICD9CM:502
xref: MESH:D012829
xref: NCI:C3369
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10326
name: Caplan's syndrome
def: "A pneumoconiosis that results_in humans that also have rheumatoid arthritis. (DO)" [http://en.wikipedia.org/wiki/Caplan%27s_syndrome "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000137.htm "DO"]
synonym: "Caplan's disease" EXACT []
synonym: "Caplans syndrome" EXACT []
synonym: "Caplan syndrome" EXACT []
synonym: "Caplan syndromes" EXACT []
synonym: "rheumatoid pneumoconiosis" EXACT []
xref: EFO:0007192
xref: MESH:D002205
is_a: DOID:10316 ! pneumoconiosis
is_a: DOID:225 ! syndrome
is_a: DOID:7148 ! rheumatoid arthritis

[Term]
id: DOID:10327
name: anthracosis
def: "A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386010/ "DO"]
synonym: "anthracoses" EXACT []
synonym: "Black Lung" EXACT []
synonym: "Black Lung Disease" EXACT []
synonym: "black lung diseases" EXACT []
synonym: "Black Lungs" EXACT []
synonym: "Coal Miner's Lung" EXACT []
synonym: "Coal Miner's Lungs" EXACT []
synonym: "coal miner's pneumoconiosis" EXACT []
synonym: "Coal Miner Lung" EXACT []
synonym: "Coal Miners Lung" EXACT []
synonym: "Coal Worker's Pneumoconioses" EXACT []
synonym: "Coalworker's Pneumoconioses" EXACT []
synonym: "Coal Worker's Pneumoconiosis" EXACT []
synonym: "coalworker's pneumoconiosis" EXACT []
synonym: "Coal Worker Pneumoconiosis" EXACT []
synonym: "Coalworker Pneumoconiosis" EXACT []
synonym: "coal workers' lung" EXACT []
synonym: "Coal Workers Pneumoconiosis" EXACT []
synonym: "coalworkers pneumoconiosis" EXACT []
synonym: "melanoedema" EXACT []
xref: EFO:1000814
xref: ICD9CM:500
xref: MESH:D055008
xref: NCI:C34390
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10328
name: siderosis
def: "A pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes. (DO)" [https://en.wikipedia.org/wiki/Siderosis "DO"]
synonym: "pulmonary siderosis" EXACT []
synonym: "sideroses" EXACT []
xref: GARD:7645
xref: ICD10CM:J63.4
xref: MESH:D012806
is_a: DOID:10316 ! pneumoconiosis

[Term]
id: DOID:10329
name: pulmonary talcosis
def: "A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc. (DO)" [https://diagnosticpathology.biomedcentral.com/articles/10.1186/1746-1596-7-26 "DO", https://pubmed.ncbi.nlm.nih.gov/34390717/ "DO", https://pubmed.ncbi.nlm.nih.gov/34401315/ "DO", https://radiopaedia.org/articles/talcosis-1 "DO"]
synonym: "pneumoconiosis due to talc" EXACT []
synonym: "talcosis" EXACT []
synonym: "talc pneumoconiosis" EXACT []
xref: ICD10CM:J62.0
xref: NCI:C27026
is_a: DOID:10316 ! pneumoconiosis
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:10330
name: slate pneumoconiosis
def: "A pneumoconiosis that is caused by exposure to slate dust. (DO)" [https://academic.oup.com/occmed/article/67/1/20/2420658 "DO", https://pubmed.ncbi.nlm.nih.gov/7426466/ "DO"]
synonym: "schistosis" EXACT []
xref: MONDO:0001004
xref: NCI:C35397
is_a: DOID:10316 ! pneumoconiosis
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:10331
name: kaolin pneumoconiosis
def: "A pneumoconiosis that is caused by inhalation of kaolin dust. (DO)" [https://www.amjmed.com/article/S0002-9343%2820%2930716-6/fulltext "DO"]
synonym: "kaolinosis" EXACT []
xref: GARD:8355
xref: NCI:C35315
is_a: DOID:10316 ! pneumoconiosis
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:10337
name: glaucomatous atrophy of optic disc
def: "An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. Glaucomatous atrophy of optic disc can be caused by any form of glaucoma. (DO)" [https://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083760/ "DO"]
synonym: "glaucomatous atrophy [cupping] of optic disc" EXACT []
xref: ICD10CM:H47.23
xref: ICD9CM:377.14
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:1686 ! glaucoma
is_a: DOID:5723 ! optic atrophy
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:10341
name: chronic meningitis
xref: ICD10CM:G03.1
xref: ICD9CM:322.2
is_a: DOID:9471 ! meningitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:10348
name: blepharophimosis
def: "An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (DO)" [https://en.wikipedia.org/wiki/Blepharophimosis "DO"]
synonym: "blepharophimoses" EXACT []
xref: GARD:5932
xref: ICD10CM:H02.52
xref: ICD9CM:374.46
xref: MESH:D016569
is_a: DOID:0080015 ! physical disorder
is_a: DOID:530 ! eyelid disease
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:10349
name: solitary cyst of breast
def: "A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14223874 "DO"]
synonym: "solitary cyst of the breast" EXACT []
xref: ICD10CM:N60.0
xref: ICD10CM:N60.09
xref: ICD9CM:610.0
xref: NCI:C3378
is_a: DOID:10350 ! breast cyst

[Term]
id: DOID:1035
name: aggressive NK-cell leukemia
def: "A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen. (DO)" [https://en.wikipedia.org/wiki/Aggressive_NK-cell_leukemia "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C8647 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191480/ "DO"]
synonym: "aggressive NK-cell leukaemia" EXACT []
synonym: "large granular lymphocyte leukemia, NK-cell type" EXACT []
synonym: "natural killer cell leukaemia" EXACT []
synonym: "natural killer cell leukemia" EXACT []
xref: ICD10CM:C94.8
xref: ICDO:9948/3
xref: NCI:C8647
is_a: DOID:0050687 ! cell type cancer
is_a: DOID:1037 ! lymphoid leukemia
is_a: DOID:9500 ! leukocyte disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:10350
name: breast cyst
def: "A breast benign neoplasm that is characterized by a fluid-filled sac. (DO)" [https://en.wikipedia.org/wiki/Breast_cyst "DO"]
synonym: "breast cysts" EXACT []
synonym: "cyst of the breast" EXACT []
xref: EFO:1000848
xref: MESH:D047688
xref: NCI:C5315
is_a: DOID:0060082 ! breast benign neoplasm
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:10352
name: breast fibroadenosis
def: "A breast benign neoplasm that has_material_basis_in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures. (DO)" [https://en.wikipedia.org/wiki/Fibrosis "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2429655/?page=1 "DO"]
synonym: "fibroadenosis of breast" EXACT []
xref: ICD10CM:N60.2
xref: ICD9CM:610.2
is_a: DOID:0060082 ! breast benign neoplasm

[Term]
id: DOID:10353
name: fibrosclerosis of breast
def: "A non-proliferative fibrocystic change of the breast that contains scar tissue. (DO)" [https://en.wikipedia.org/wiki/Fibrosclerosis_of_breast "DO"]
synonym: "breast fibrosis" EXACT []
synonym: "fibrosis of the breast" EXACT []
xref: EFO:1000145
xref: ICD10CM:N60.3
xref: ICD9CM:610.3
xref: MONDO:0006118
xref: NCI:C3660
is_a: DOID:5997 ! non-proliferative fibrocystic change of the breast

[Term]
id: DOID:10354
name: breast fibrocystic disease
def: "A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3511705 "DO"]
synonym: "benign breast disease" EXACT []
synonym: "Breast Cystic Disease" EXACT []
synonym: "Breast Cystic Diseases" EXACT []
synonym: "Breast Dysplasia" EXACT []
synonym: "Breast Fibrocystic Change" EXACT []
synonym: "Breast Fibrocystic Changes" EXACT []
synonym: "Chronic Cystic Mastitis" EXACT []
synonym: "Cystic Disease of Breast" EXACT []
synonym: "Diffuse cystic mastopathy" EXACT []
synonym: "Fibrocystic Changes of Breast" EXACT []
synonym: "Fibrocystic Disease of Breast" EXACT []
synonym: "fibrocystic mastopathy" EXACT []
synonym: "mammary dysplasia" EXACT []
xref: EFO:0003014
xref: ICD10CM:N60.1
xref: ICD9CM:610.1
xref: MESH:D005348
xref: NCI:C3039
is_a: DOID:0060082 ! breast benign neoplasm

[Term]
id: DOID:1036
name: chronic leukemia
def: "A leukemia that develops slowly. (DO)" [http://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html "DO"]
synonym: "adult chronic leukemia" RELATED []
xref: NCI:C3483
is_a: DOID:1240 ! leukemia
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:10361
name: eosinophilic meningitis
def: "A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31972289/ "DO"]
xref: ICD9CM:322.1
xref: NCI:C128374
is_a: DOID:10341 ! chronic meningitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:10366
name: epididymis cancer
def: "A male reproductive organ cancer that is located in the epididymis. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3720153/ "DO"]
synonym: "malignant epididymal tumor" EXACT []
synonym: "malignant neoplasm of epididymis" EXACT []
synonym: "malignant tumor of epididymis" EXACT []
xref: ICD10CM:C63.0
xref: ICD9CM:187.5
xref: NCI:C3558
is_a: DOID:0080373 ! epididymis disease
is_a: DOID:3856 ! male reproductive organ cancer
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:10368
name: epididymis adenocarcinoma
def: "An epididymis cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of the epididymis" EXACT []
xref: NCI:C39957
is_a: DOID:10366 ! epididymis cancer
is_a: DOID:299 ! adenocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:1037
name: lymphoid leukemia
alt_id: DOID:10747
def: "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. (DO)" [http://www.cancer.gov/dictionary?CdrID=616067 "DO"]
synonym: "lymphoblastic leukaemia" EXACT []
synonym: "lymphocytic leukaemia" EXACT []
synonym: "lymphocytic leukemia" EXACT []
synonym: "lymphocytic leukemias" EXACT []
synonym: "lymphoid leukemias" EXACT []
xref: EFO:0000220
xref: EFO:0004289
xref: ICD10CM:C91
xref: ICD9CM:204
xref: ICDO:9820/3
xref: MESH:D007945
xref: NCI:C7539
is_a: DOID:0060058 ! lymphoma
is_a: DOID:1240 ! leukemia
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:10371
name: yaws
def: "A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions. (DO)" [http://en.wikipedia.org/wiki/Yaws "DO", http://www.who.int/mediacentre/factsheets/fs316/en/ "DO"]
synonym: "bouba" EXACT []
synonym: "frambesia" EXACT []
synonym: "frambesias" EXACT []
synonym: "frambesia tropica" EXACT []
synonym: "frambesia tropicas" EXACT []
synonym: "frambosie" EXACT []
synonym: "polypapilloma tropicum" EXACT []
synonym: "thymosis" EXACT []
xref: EFO:0007548
xref: GARD:7913
xref: ICD10CM:A66
xref: ICD9CM:102
xref: MESH:D015001
xref: NCI:C41353
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:0080001 ! bone disease
is_a: DOID:9000746 ! Treponemal Infections
is_a: DOID:9003209 ! Bacterial Skin Diseases

[Term]
id: DOID:10375
name: strabismic amblyopia
def: "An amblyopia that is characterized by strabismus or eye misalignment. The brain begins to ignore the eye that is not straight and the vision subsequently drops in that eye. (DO)" [https://aapos.org/glossary/amblyopia "DO", https://pubmed.ncbi.nlm.nih.gov/25051925/ "DO"]
synonym: "suppression amblyopia" EXACT []
synonym: "suppression amblyopias" EXACT []
xref: ICD10CM:H53.03
xref: ICD9CM:368.01
is_a: DOID:10376 ! amblyopia
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:10376
name: amblyopia
def: "An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward. (DO)" [https://en.wikipedia.org/wiki/Amblyopia "DO", https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/amblyopia-lazy-eye "DO"]
synonym: "amblyopias" EXACT []
synonym: "Anisometropic Amblyopia" EXACT []
synonym: "anisometropic amblyopias" EXACT []
synonym: "Developmental Amblyopia" EXACT []
synonym: "Developmental Amblyopias" EXACT []
synonym: "lazy eye" EXACT []
synonym: "lazy eyes" EXACT []
xref: ICD10CM:H53.00
xref: ICD9CM:368.00
xref: MESH:D000550
xref: MONDO:0001020
xref: NCI:C118764
is_a: DOID:5614 ! eye disease
is_a: DOID:9000343 ! Vision Disorders
is_a: DOID:936 ! brain disease

[Term]
id: DOID:10377
name: refractive amblyopia
def: "An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s). (DO)" [https://aapos.org/glossary/amblyopia "DO"]
synonym: "ametropic amblyopia" EXACT []
xref: ICD10CM:H53.02
xref: ICD9CM:368.03
is_a: DOID:10376 ! amblyopia
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:10378
name: deprivation amblyopia
def: "An amblyopia that is characterized by a structural anomaly that impairs vision like a droopy eyelid or an opacity in the eye, such as a cataract or corneal scar. (DO)" [https://aapos.org/glossary/amblyopia "DO"]
synonym: "disuse amblyopia" EXACT []
synonym: "pattern-deprivation amblyopia" EXACT []
synonym: "stimulus deprivation-induced amblyopia" EXACT []
synonym: "stimulus deprivation-induced amblyopias" EXACT []
xref: ICD10CM:H53.01
xref: ICD9CM:368.02
is_a: DOID:10376 ! amblyopia
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:10383
name: amyotrophic neuralgia
def: "A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25. (DO)" [https://medlineplus.gov/genetics/condition/hereditary-neuralgic-amyotrophy/ "DO"]
synonym: "amyotrophic neuralgias" EXACT []
synonym: "hereditary neuralgic amyotrophies" EXACT []
synonym: "hereditary neuralgic amyotrophy" EXACT []
synonym: "hereditary neuralgic amyotrophy (HNA)" EXACT []
synonym: "neuralgic amyotrophies" EXACT []
synonym: "neuralgic amyotrophy" EXACT []
xref: ICD9CM:353.5
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:3690 ! brachial plexus neuropathy
is_a: DOID:9005968 ! Neuralgia
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:1039
name: prolymphocytic leukemia
def: "A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. (DO)" [https://cancer.ca/en/cancer-information/cancer-types/non-hodgkin-lymphoma/what-is-non-hodgkin-lymphoma/prolymphocytic-leukemias "DO"]
synonym: "PLL" EXACT []
synonym: "Prolymphocytic leukaemia" EXACT []
synonym: "prolymphocytic leukemias" EXACT []
xref: ICDO:9832/3
xref: MESH:D015463
xref: NCI:C3181
is_a: DOID:1037 ! lymphoid leukemia
is_a: DOID:1040 ! chronic lymphocytic leukemia

[Term]
id: DOID:10393
name: secondary hypertrophic osteoarthropathy
def: "Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" [MESH:D010005]
synonym: "Clubbed Finger" EXACT []
synonym: "Clubbed Fingers" EXACT []
synonym: "HPOA - hypertrophic pulmonary osteoarthropathy" EXACT [SNOMEDCT_2005_07_31:203357004]
synonym: "hypertrophic pulmonary osteoarthropathy" EXACT []
synonym: "Marie Bamberger Disease" EXACT []
synonym: "Secondary Hypertrophic Osteoarthropathies" EXACT []
xref: EFO:1001174
xref: ICD9CM:731.2
xref: MESH:D010005
xref: RDO:0006249
is_a: DOID:3342 ! bone inflammation disease
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:10398
name: pneumonic plague
def: "A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing. (DO)" [https://en.wikipedia.org/wiki/Pneumonic_plague "DO"]
synonym: "pneumonic plagues" EXACT []
synonym: "primary pneumonic plague" EXACT []
synonym: "secondary pneumonic plague" EXACT []
xref: ICD10CM:A20.2
xref: ICD9CM:020.3
xref: ICD9CM:020.4
xref: ICD9CM:020.5
is_a: DOID:3482 ! plague
is_a: DOID:850 ! lung disease
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:10399
name: seminal vesicle chronic gonorrhea
synonym: "Gonococcal seminal vesiculitis, chronic" EXACT [ICD9CM_2006:098.34]
xref: ICD9CM:098.34
xref: RDO:9004910
is_a: DOID:10400 ! gonococcal seminal vesiculitis
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:104
name: bacterial infectious disease
def: "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. (DO)" [http://en.wikipedia.org/wiki/Pathogenic_bacteria "DO"]
synonym: "bacterial infection" EXACT []
synonym: "bacterial infections" EXACT []
xref: EFO:0000771
xref: ICD10CM:A49.9
xref: MESH:D001424
xref: NCI:C2890
is_a: DOID:9004384 ! Bacterial Infections and Mycoses

[Term]
id: DOID:1040
name: chronic lymphocytic leukemia
def: "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. (DO)" [http://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia "DO", http://www.cancer.gov/dictionary?cdrid=346545 "DO"]
synonym: "B-cell chronic lymphocytic leukaemia" EXACT []
synonym: "B-cell chronic lymphoid leukemia" RELATED []
synonym: "chronic lymphatic leukaemia" EXACT []
synonym: "chronic lymphatic leukemia" EXACT []
synonym: "chronic lymphocytic leukaemia" EXACT []
synonym: "chronic lymphoid leukemia" EXACT []
synonym: "CLL" EXACT []
synonym: "lymphoplasmacytic leukaemia" EXACT []
synonym: "lymphoplasmacytic leukemia" EXACT []
xref: EFO:0000095
xref: EFO:0000169
xref: GARD:6104
xref: ICD10CM:C91.10
xref: ICD9CM:204.1
xref: NCI:C3163
xref: ORDO:67038
is_a: DOID:0060058 ! lymphoma
is_a: DOID:1037 ! lymphoid leukemia
created_by: rgd
creation_date: 2016-07-12T00:00:00Z

[Term]
id: DOID:10400
name: gonococcal seminal vesiculitis
synonym: "gonorrhea of seminal vesicle" EXACT []
is_a: DOID:7551 ! gonorrhea
is_a: DOID:9365 ! vesiculitis
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:10423
name: acute pericementitis
synonym: "acute periodontitis" EXACT []
xref: ICD9CM:523.33
xref: NCI:C34354
is_a: DOID:824 ! periodontitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:10426
name: Klippel-Feil syndrome
alt_id: MESH:C536887
alt_id: MESH:C536888
def: "A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. (DO)" [http://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome "DO", http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm "DO", http://www.wheelessonline.com/ortho/klippel_feil_syndrome "DO"]
synonym: "autosomal dominant Klippel-Feil syndrome" EXACT []
synonym: "autosomal recessive Klippel-Feil syndrome" EXACT []
synonym: "cervical fusion syndrome" EXACT []
synonym: "cervical vertebral fusion, autosomal dominant" EXACT []
synonym: "Cervical vertebral fusion, autosomal recessive" EXACT []
synonym: "congenital dystrophia brevicollis" EXACT []
synonym: "congenital synostosis of cervical vertebrae" EXACT []
synonym: "Dystrophia Brevicollis Congenita" EXACT []
synonym: "KFS" EXACT []
synonym: "Kfs, Autosomal Recessive" EXACT []
synonym: "Klippel-Feil and Turner syndrome" EXACT []
synonym: "Klippel-Feil deformity, deafness and facial asymmetry" EXACT []
synonym: "Klippel-Feil sequence" EXACT []
synonym: "vertebral cervical fusion syndrome" EXACT []
xref: GARD:10280
xref: ICD10CM:Q76.1
xref: ICD9CM:756.16
xref: MESH:D007714
xref: MIM:PS118100
xref: NCI:C98967
xref: ORDO:2345
is_a: DOID:0060564 ! spinal disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:1934 ! dysostosis
is_a: DOID:225 ! syndrome
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:10428
name: stable condition keratoconus
xref: ICD10CM:H18.61
xref: ICD9CM:371.61
xref: RDO:9004354
is_a: DOID:10126 ! keratoconus
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10435
name: purulent acute otitis media
def: "A suppurative otitis media with sudden onset and a short course. (DO)" [http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false "DO"]
xref: ICD9CM:382.02
is_a: DOID:11506 ! suppurative otitis media
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:10439
name: Mooren's ulcer
def: "A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema. (DO)" [https://eyewiki.aao.org/Mooren%27s_Ulcer "DO"]
synonym: "Mooren ulcer" EXACT []
xref: ICD10CM:H16.05
xref: ICD9CM:370.07
is_a: DOID:8463 ! corneal ulcer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:10440
name: mycotic corneal ulcer
def: "A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, aspergillus, fusarium, and rhizopus. (DO)" [https://eyewiki.aao.org/Fungal_Keratitis "DO"]
xref: ICD10CM:H16.06
xref: ICD9CM:370.05
is_a: DOID:8463 ! corneal ulcer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:10441
name: marginal corneal ulcer
def: "A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus. (DO)" [https://www.reviewofoptometry.com/article/is-it-an-ulcer-or-an-infiltrate "DO"]
xref: ICD10CM:H16.04
xref: ICD9CM:370.01
is_a: DOID:8463 ! corneal ulcer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:10442
name: hypopyon ulcer
xref: ICD10CM:H16.03
xref: ICD9CM:370.04
xref: RDO:9003091
is_a: DOID:10443 ! hypopyon
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:10443
name: hypopyon
xref: ICD10CM:H20.05
xref: ICD9CM:364.05
xref: NCI:C50593
xref: RDO:9003090
is_a: DOID:9383 ! iridocyclitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:10444
name: ring corneal ulcer
def: "A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16693254 "DO"]
xref: ICD10CM:H16.02
xref: ICD9CM:370.02
is_a: DOID:8463 ! corneal ulcer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:10445
name: perforated corneal ulcer
def: "A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment. (DO)" [https://www.aao.org/eyenet/article/corneal-perforations "DO"]
xref: ICD10CM:H16.07
xref: ICD9CM:370.06
is_a: DOID:8463 ! corneal ulcer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:10456
name: tonsillitis
def: "An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills. (DO)" [http://en.wikipedia.org/wiki/Tonsillitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tonsillitis "DO"]
synonym: "chronic tonsillitis" EXACT []
synonym: "throat infection - tonsillitis" EXACT []
synonym: "Tonsillitides" EXACT []
xref: ICD10CM:J35.01
xref: ICD9CM:474.00
xref: MESH:D014069
xref: NCI:C116006
is_a: DOID:2275 ! pharyngitis
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:10457
name: Legionnaires' disease
alt_id: MIM:608556
def: "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. (DO)" [http://en.wikipedia.org/wiki/Legionellosis "DO"]
synonym: "infection by Legionella pneumophilia" EXACT []
synonym: "legionella" EXACT []
synonym: "legionella pneumonia" EXACT []
synonym: "Legionella pneumophila Infection" EXACT []
synonym: "Legionella pneumophila Infections" EXACT []
synonym: "Legionnaire's Disease" EXACT []
synonym: "Legionnaire Disease" EXACT []
synonym: "Legionnaire disease, susceptibility to" RELATED []
xref: EFO:0007343
xref: ICD10CM:A48.1
xref: ICD9CM:482.84
xref: MESH:D007877
xref: MONDO:0005824
xref: NCI:C128339
is_a: DOID:10458 ! legionellosis
is_a: DOID:874 ! bacterial pneumonia

[Term]
id: DOID:10458
name: legionellosis
def: "A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. (DO)" [http://en.wikipedia.org/wiki/Legionellosis "DO", http://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm "DO"]
synonym: "legionella infection" EXACT []
synonym: "legionelloses" EXACT []
xref: EFO:0007342
xref: MESH:D007876
xref: NCI:C128334
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9008680 ! Respiratory Tract Infections
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:10459
name: common cold
def: "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=common%20cold "DO", https://medlineplus.gov/commoncold.html "DO"]
synonym: "acute coryza" EXACT []
synonym: "acute nasopharyngitis" EXACT []
synonym: "acute rhinitis" EXACT []
synonym: "Acute viral rhinopharyngitis" EXACT []
synonym: "Catarrh" EXACT []
synonym: "Catarrhs" EXACT []
synonym: "Common Colds" EXACT []
synonym: "rhino-sinusitis" EXACT []
synonym: "Rhinovirus Infection" RELATED []
xref: EFO:0007214
xref: ICD9CM:460
xref: MESH:D003139
xref: MONDO:0005709
xref: NCI:C34500
xref: NCI:C78599
is_a: DOID:9003470 ! Picornaviridae Infections
is_a: DOID:9008680 ! Respiratory Tract Infections
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:10460
name: nasopharyngitis
def: "A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. (DO)" [http://medical-dictionary.thefreedictionary.com/nasopharyngitis "DO", http://www.merriam-webster.com/medical/nasopharyngitis "DO"]
synonym: "chronic nasopharyngitis" EXACT []
synonym: "nasopharyngitides" EXACT []
xref: ICD10CM:J00
xref: ICD10CM:J31.1
xref: ICD9CM:472.2
xref: MESH:D009304
xref: NCI:C34837
is_a: DOID:2275 ! pharyngitis
is_a: DOID:9561 ! nasopharyngeal disease

[Term]
id: DOID:10461
name: dentin caries
synonym: "compound dental caries" EXACT []
synonym: "dental caries extending into dentine" EXACT []
xref: ICD10CM:K02
xref: ICD9CM:521.02
is_a: DOID:216 ! dental caries
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:10471
name: patellar tendinitis
synonym: "patellar tendonitis" EXACT []
xref: ICD10CM:M76.5
xref: ICD10CM:M76.50
xref: ICD9CM:726.64
xref: RDO:9003129
is_a: DOID:971 ! tendinitis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:10480
name: diaphragmatic eventration
def: "A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG." [MESH:D003965]
synonym: "Diaphragm Eventration" EXACT []
synonym: "Eventration of Diaphragm" EXACT []
xref: EFO:1000898
xref: ICD10CM:Q79.1
xref: MESH:D003965
xref: NCI:C98912
is_a: DOID:10481 ! diaphragm disease
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:10481
name: diaphragm disease
def: "A muscular disease that is located_in the diaphragm. (DO)" [http://www.bmc.org/thoracicsurgery/diseasesandconditions-diaphragm.htm "DO"]
xref: EFO:0007233
xref: ICD10CM:J98.6
xref: ICD9CM:519.4
is_a: DOID:0080000 ! muscular disease
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:10485
name: esophageal atresia
def: "Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA." [MESH:D004933]
synonym: "congenital atresia of esophagus" EXACT []
synonym: "congenital imperforate esophagus" EXACT []
synonym: "Esophageal Atresias" EXACT []
synonym: "imperforate esophagus" EXACT []
synonym: "oesophageal atresia" EXACT []
xref: GARD:6381
xref: ICD10CM:Q39.0
xref: MESH:D004933
xref: NCI:C87072
is_a: DOID:6050 ! esophageal disease
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:10486
name: intestinal atresia
alt_id: MIM:243600
def: "Congenital obliteration of the lumen of the intestine, with the ILEUM involved in 50% of the cases and the JEJUNUM and DUODENUM following in frequency. It is the most frequent cause of INTESTINAL OBSTRUCTION in NEWBORNS. (From Stedman, 25th ed)" [MESH:D007409]
synonym: "Apple Peel Intestinal Atresia" EXACT []
synonym: "Apple-Peel Intestinal Atresias" EXACT []
synonym: "Apple Peel Small Bowel Syndrome" EXACT []
synonym: "Apple Peel Syndrome" EXACT []
synonym: "Apple Peel Syndromes" EXACT []
synonym: "Congenital Intestinal Atresia" EXACT []
synonym: "Congenital Intestinal Atresias" EXACT []
synonym: "Familial Apple Peel Jejunal Atresia" EXACT []
synonym: "Jejunal Atresia" EXACT []
xref: ICD10CM:Q41.1
xref: MESH:D007409
xref: NCI:C84790
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:10487
name: Hirschsprung's disease
alt_id: MIM:142623
alt_id: MIM:600155
alt_id: MIM:600156
alt_id: MIM:606874
alt_id: MIM:606875
alt_id: MIM:608462
alt_id: MIM:611644
alt_id: MIM:613711
alt_id: MIM:613712
def: "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. (DO)" [http://en.wikipedia.org/wiki/Hirschsprung%27s_disease "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm "DO", http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease "DO"]
synonym: "aganglionic megacolon" EXACT []
synonym: "colonic aganglionosis" EXACT []
synonym: "congenital intestinal aganglionosis" EXACT []
synonym: "congenital megacolon" EXACT []
synonym: "CSMD3-ASSOCIATED HIRSCHSPRUNG DISEASE" NARROW []
synonym: "Hirschsprung disease" EXACT []
synonym: "Hirschsprung disease, dominant" NARROW []
synonym: "Hirschsprung disease, protection against" RELATED []
synonym: "Hirschsprung disease, recessive" NARROW []
synonym: "Hirschsprung Disease, Susceptibility to, 1" RELATED []
synonym: "Hirschsprung Disease, Susceptibility to, 2" RELATED []
synonym: "Hirschsprung Disease, Susceptibility to, 3" RELATED []
synonym: "Hirschsprung Disease, Susceptibility to, 4" RELATED []
synonym: "Hirschsprung Disease, Susceptibility to, 5" RELATED []
synonym: "Hirschsprung Disease, Susceptibility to, 6" RELATED []
synonym: "Hirschsprung Disease, Susceptibility to, 7" RELATED []
synonym: "Hirschsprung Disease, Susceptibility to, 8" RELATED []
synonym: "Hirschsprung Disease, Susceptibility to, 9" RELATED []
synonym: "Hirschsprungs disease" EXACT []
synonym: "HSCR" EXACT []
synonym: "HSCR1" EXACT []
synonym: "HSCR2" EXACT []
synonym: "HSCR3" EXACT []
synonym: "HSCR4" EXACT []
synonym: "HSCR5" EXACT []
synonym: "HSCR6" EXACT []
synonym: "HSCR7" EXACT []
synonym: "HSCR8" EXACT []
synonym: "HSCR9" EXACT []
synonym: "macrocolon" EXACT []
synonym: "MGC" EXACT []
synonym: "pelvirectal achalasia" EXACT []
synonym: "rectosigmoid aganglionosis" EXACT []
synonym: "rectosigmoid colon aganglionosis" EXACT []
synonym: "total colonic aganglionosis" EXACT []
xref: EFO:0004241
xref: GARD:6660
xref: ICD10CM:Q43.1
xref: MESH:D006627
xref: MIM:PS142623
xref: MONDO:0018309
xref: NCI:C34700
xref: ORDO:388
is_a: DOID:11372 ! megacolon
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:10488
name: imperforate anus
alt_id: MIM:207500
alt_id: MIM:301800
def: "A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME." [MESH:D001006]
synonym: "anal atresia" EXACT []
synonym: "anal atresias" EXACT []
synonym: "congenital atresia of anus" EXACT []
synonym: "congenital or infantile occlusion of anus" EXACT []
xref: GARD:6769
xref: ICD10CM:Q42.3
xref: MESH:D001006
xref: NCI:C84784
is_a: DOID:0080015 ! physical disorder
is_a: DOID:3128 ! anus disease
is_a: DOID:9001471 ! Anorectal Malformations

[Term]
id: DOID:10493
name: adrenal cortical hypofunction
alt_id: DOID:9008329
synonym: "Adrenal Cortical Insufficiency" EXACT [NCI2004_11_17:C27150]
synonym: "Adrenocortical Insufficiency" EXACT []
synonym: "Corticoadrenal insufficiency" EXACT [SNOMEDCT_2005_07_31:267483004]
xref: EFO:0009491
xref: ICD9CM:255.4
xref: MIM:184757
xref: NCI:C26691
xref: RDO:9000796
xref: RDO:9004277
is_a: DOID:3952 ! adrenal cortex disease
is_a: DOID:9008622 ! Adrenal Insufficiency
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:10499
name: orbital granuloma
xref: ICD10CM:H05.11
xref: ICD9CM:376.11
xref: NCI:C3653
xref: RDO:9003003
is_a: DOID:1397 ! chronic orbital inflammation
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:10507
name: Dressler's syndrome
def: "A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. (DO)" [http://en.wikipedia.org/wiki/Dressler%27s_syndrome "DO", http://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307 "DO"]
synonym: "Donath-Landsteiner hemolytic anemia" EXACT []
synonym: "Donath-Landsteiner syndrome" EXACT []
synonym: "Dressler syndrome" EXACT []
synonym: "Harley syndrome" EXACT []
synonym: "immune hemolytic anemia, paroxysmal cold" EXACT []
synonym: "postmyocardial infarction syndrome" EXACT []
xref: ICD10CM:I24.1
xref: ICD9CM:411.0
xref: MESH:C538618
is_a: DOID:1787 ! pericarditis
is_a: DOID:718 ! autoimmune hemolytic anemia

[Term]
id: DOID:10516
name: malignant otitis externa
def: "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. (DO)" [http://www.merck.com/mmhe/sec19/ch219/ch219c.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000672.htm "DO"]
xref: ICD10CM:H60.2
xref: ICD9CM:380.14
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:9463 ! otitis externa
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10518
name: beach ear
def: "An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds. (DO)" [http://en.wikipedia.org/wiki/Otitis_externa "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000622.htm "DO"]
synonym: "acute bacterial inflammation of external ear" EXACT []
synonym: "acute otitis externa, diffuse" EXACT []
synonym: "acute swimmer's ear" EXACT []
synonym: "acute swimmers' ear" EXACT []
synonym: "tank ear" EXACT []
xref: ICD9CM:380.12
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:9463 ! otitis externa
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10519
name: chronic fungal otitis externa
def: "A otomycosis which is persistent and long-lasting or recurrent. (DO)" [http://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf "DO"]
synonym: "chronic mycotic otitis externa" EXACT []
xref: ICD9CM:380.15
xref: MONDO:0001052
is_a: DOID:0050147 ! otomycosis
is_a: DOID:1564 ! fungal infectious disease

[Term]
id: DOID:10520
name: acute infection of pinna
def: "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. (DO)" [http://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false "DO"]
xref: ICD9CM:380.11
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:9463 ! otitis externa
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10525
name: double pterygium
def: "A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula. (DO)" [https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5598180/ "DO"]
xref: ICD9CM:372.44
is_a: DOID:0002116 ! pterygium
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:10526
name: conjunctival pterygium
def: "A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula. (DO)" [https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ "DO"]
synonym: "web eye" EXACT []
is_a: DOID:0002116 ! pterygium
is_a: DOID:10139 ! conjunctival degeneration
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:10533
name: viral pneumonia
def: "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. (DO)" [http://en.wikipedia.org/wiki/Pneumonia "DO"]
synonym: "viral pneumonias" EXACT []
xref: EFO:0007541
xref: ICD10CM:J12.9
xref: ICD9CM:480
xref: MESH:D011024
is_a: DOID:552 ! pneumonia
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:10534
name: stomach cancer
alt_id: MIM:613659
def: "A gastrointestinal system cancer that is located_in the stomach. (DO)" [http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer "DO", http://en.wikipedia.org/wiki/Stomach "DO"]
synonym: "cancer of stomach" EXACT []
synonym: "cancer of the stomach" EXACT []
synonym: "familial diffuse gastric cancer and cleft lip with or without cleft palate" NARROW []
synonym: "gastric cancer" EXACT []
synonym: "gastric cancers" EXACT []
synonym: "intestinal gastric cancer" NARROW []
synonym: "stomach cancers" EXACT []
xref: EFO:0003897
xref: GARD:7704
xref: ICD10CM:C16
xref: ICD10CM:C16.2
xref: ICD10CM:C16.5
xref: ICD10CM:C16.6
xref: ICD9CM:151
xref: ICD9CM:151.4
xref: ICD9CM:151.5
xref: ICD9CM:151.6
xref: NCI:C3387
xref: NCI:C9331
is_a: DOID:3119 ! gastrointestinal system cancer
is_a: DOID:9000217 ! Stomach Neoplasms

[Term]
id: DOID:10536
name: malignant gastric granular cell tumor
synonym: "malignant gastric granular cell tumour" EXACT []
synonym: "malignant granular cell tumor of stomach" EXACT []
synonym: "malignant granular cell tumour of stomach" EXACT []
xref: NCI:C5484
is_a: DOID:10534 ! stomach cancer
is_a: DOID:9008863 ! Malignant Granular Cell Tumor
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:10538
name: gastric fundus cancer
def: "A stomach cancer that is located_in the gastric fundus. (DO)" [https://www.cancer.org/cancer/stomach-cancer/about/what-is-stomach-cancer.html "DO"]
synonym: "Ca fundus - stomach" EXACT []
synonym: "malignant neoplasm of fundus of stomach" EXACT []
synonym: "malignant tumor of fundus of stomach" EXACT []
xref: EFO:0000178
xref: ICD10CM:C16.1
xref: ICD9CM:151.3
is_a: DOID:10534 ! stomach cancer
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:10540
name: gastric lymphoma
synonym: "familial primary gastric lymphoma" EXACT []
synonym: "lymphoma of the stomach" EXACT []
synonym: "primary gastric lymphoma" EXACT []
xref: GARD:6485
xref: MESH:C535648
xref: NCI:C4636
is_a: DOID:0060060 ! non-Hodgkin lymphoma
is_a: DOID:10534 ! stomach cancer

[Term]
id: DOID:10541
name: microinvasive gastric cancer
synonym: "early gastric cancer" EXACT [SNOMEDCT_2005_07_31:276809004]
synonym: "Surface gastric cancer" EXACT [NCI2004_11_17:C27131]
xref: NCI:C27131
xref: RDO:9002468
is_a: DOID:3717 ! gastric adenocarcinoma
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:10544
name: pylorus cancer
synonym: "Ca pylorus - stomach" EXACT []
synonym: "malignant neoplasm of prepylorus" NARROW []
synonym: "malignant neoplasm of pylorus of stomach" EXACT []
synonym: "malignant tumor of pylorus" EXACT []
xref: ICD10CM:C16.4
xref: ICD9CM:151.1
xref: NCI:C188051
is_a: DOID:10534 ! stomach cancer
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:10547
name: pyloric antrum cancer
synonym: "malignant neoplasm of antrum of stomach" EXACT []
synonym: "malignant tumor of pyloric antrum" EXACT []
xref: ICD10CM:C16.3
xref: ICD9CM:151.2
is_a: DOID:10544 ! pylorus cancer
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:10548
name: cardia cancer
def: "A cancer located_in the gastric cardia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33758614 "DO"]
synonym: "Ca cardia - stomach" EXACT []
synonym: "malignant neoplasm of cardia of stomach" EXACT []
xref: ICD10CM:C16.0
xref: ICD9CM:151.0
is_a: DOID:10534 ! stomach cancer
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:10550
name: acute eustachian salpingitis
def: "A otosalpingitis with a sudden onset and a short course. (DO)" [http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false "DO"]
synonym: "acute eustachian tube salpingitis" EXACT [SNOMEDCT_2005_07_31:194268005]
xref: ICD10CM:H68.01
xref: ICD9CM:381.51
xref: RDO:9003843
is_a: DOID:2000 ! otosalpingitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:10554
name: meningoencephalitis
def: "A central nervous system disease that involves encephalitis which occurs along with meningitis. (DO)" [http://en.wikipedia.org/wiki/Encephalitis "DO"]
synonym: "Cerebromeningitides" EXACT []
synonym: "Cerebromeningitis" EXACT []
synonym: "Encephalomeningitides" EXACT []
synonym: "Encephalomeningitis" EXACT []
synonym: "Meningoencephalitides" EXACT []
xref: EFO:0007364
xref: ICD10CM:A69.22
xref: MESH:D008590
xref: NCI:C34813
is_a: DOID:9000025 ! Central Nervous System Infections
is_a: DOID:9003736 ! Central Nervous System Viral Diseases
is_a: DOID:9471 ! meningitis
is_a: DOID:9588 ! encephalitis

[Term]
id: DOID:10556
name: supine hypotensive syndrome
def: "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22537582 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8164943 "DO"]
synonym: "antepartum maternal hypotension syndrome" EXACT []
synonym: "postpartum maternal hypotension syndrome" EXACT []
xref: ICD9CM:669.20
xref: RDO:9002794
is_a: DOID:178 ! vascular disease
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:1056
name: oculocerebrorenal syndrome
alt_id: MIM:309000
def: "A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. (DO)" [https://ghr.nlm.nih.gov/condition/lowe-syndrome "DO", https://www.omim.org/entry/309000 "DO"]
synonym: "cerebro oculo renal syndrome" EXACT []
synonym: "cerebrooculorenal syndrome" EXACT []
synonym: "Lowe Bickel syndrome" EXACT []
synonym: "Lowe Disease" EXACT []
synonym: "Lowe Oculocerebrorenal Syndrome" EXACT []
synonym: "Lowe Syndrome" EXACT []
synonym: "Lowe Terrey MacLachlan Syndrome" EXACT []
synonym: "OCRL" EXACT []
synonym: "OCRL1" EXACT []
synonym: "Oculocerebrorenal Dystrophy" EXACT []
synonym: "oculocerebrorenal syndrome of Lowe" EXACT []
synonym: "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" EXACT []
synonym: "renal oculocerebrodystrophy" EXACT []
xref: GARD:3295
xref: ICD10CM:E72.03
xref: MESH:D009800
xref: NCI:C84940
xref: ORDO:534
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:447 ! renal tubular transport disease
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9005730 ! Amino Acid Transport Disorders, Inborn
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:10567
name: late yaws
def: "A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis. (DO)" [https://www.who.int/neglected_diseases/diseases/yaws/en/ "DO"]
synonym: "gummata and ulcers due to yaws" EXACT []
synonym: "gummata of yaws" EXACT []
synonym: "gummatous frambeside" EXACT []
synonym: "multiple papillomata due to yaws and wet crab yaws" EXACT []
synonym: "nodular late yaws" EXACT []
synonym: "ulcers of yaws" EXACT []
synonym: "yaws gummata and ulcers" EXACT []
xref: ICD10CM:A66.1
xref: ICD10CM:A66.4
xref: ICD9CM:102.1
xref: ICD9CM:102.4
xref: NCI:C41354
is_a: DOID:10371 ! yaws
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:10568
name: early yaws
def: "A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. (DO)" [http://www.who.int/mediacentre/factsheets/fs316/en/ "DO"]
synonym: "bone and joint lesions due to yaws" EXACT []
synonym: "bone and joint yaws lesion" EXACT []
synonym: "chancre of yaws" EXACT []
synonym: "initial frambesial ulcer" EXACT []
synonym: "initial lesions of yaws" EXACT []
synonym: "initial or primary frambesia" EXACT []
synonym: "primary frambesia" EXACT []
xref: ICD10CM:A66.0
xref: ICD10CM:A66.6
xref: ICD9CM:102.0
xref: ICD9CM:102.6
xref: NCI:C41352
is_a: DOID:10371 ! yaws
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:10573
name: osteomalacia
def: "A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. (DO)" [http://en.wikipedia.org/wiki/Osteomalacia "DO", http://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx "DO", http://www.mayoclinic.com/health/osteomalacia/DS00935 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000376.htm "DO", http://www.wheelessonline.com/ortho/osteomalacia "DO"]
synonym: "adult rickets" EXACT []
xref: EFO:1002027
xref: GARD:7285
xref: ICD9CM:268.2
xref: MESH:D010018
xref: NCI:C26838
is_a: DOID:0080005 ! bone remodeling disease
is_a: DOID:10609 ! rickets

[Term]
id: DOID:10575
name: calcium metabolism disease
alt_id: RDO:0001607
def: "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." [MESH:D002128]
synonym: "calcium metabolism disorder" EXACT []
synonym: "calcium metabolism disorders" EXACT []
xref: EFO:0005769
xref: ICD9CM:275.4
xref: MESH:D002128
is_a: DOID:0050032 ! mineral metabolism disease

[Term]
id: DOID:10579
name: leukodystrophy
def: "A cerebral degeneration characterized by dysfunction of the white matter of the brain. (DO)" [http://en.wikipedia.org/wiki/Leukodystrophy "DO"]
synonym: "CST3-RELATED LEUKODYSTROPHY" NARROW []
xref: GARD:6895
xref: ICD9CM:330.0
xref: MIM:PS221820
xref: NCI:C61253
is_a: DOID:1443 ! cerebral degeneration
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:10581
name: metachromatic leukodystrophy
alt_id: MIM:250100
def: "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. (DO)" [http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy "DO", http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy "DO"]
synonym: "ARSA Deficiencies" EXACT []
synonym: "ARSA Deficiency" EXACT []
synonym: "Arylsulfatase A Deficiencies" EXACT []
synonym: "Arylsulfatase A Deficiency" EXACT []
synonym: "Arylsulfatase A Deficiency Disease" EXACT []
synonym: "Arylsulfatase A Pseudodeficiency" RELATED []
synonym: "ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE" RELATED []
synonym: "Cerebral sclerosis, Diffuse, Metachromatic Form" EXACT []
synonym: "Cerebroside Sulfatase Deficiencies" EXACT []
synonym: "Cerebroside Sulfatase Deficiency" EXACT []
synonym: "CEREBROSIDE SULFATASE DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY" NARROW []
synonym: "Cerebroside Sulphatase Deficiency Disease" EXACT []
synonym: "deficiency of cerebroside-sulfatase" EXACT []
synonym: "Greenfield's Disease" EXACT []
synonym: "Greenfield Disease" EXACT []
synonym: "Infant Metachromatic Leukodystrophies" EXACT []
synonym: "Infant Metachromatic Leukodystrophy" EXACT []
synonym: "Infant-Type Metachromatic Leukodystrophies" EXACT []
synonym: "Infant-Type Metachromatic Leukodystrophy" EXACT []
synonym: "Juvenile Metachromatic Leukodystrophies" EXACT []
synonym: "Juvenile-Type Metachromatic Leukodystrophies" EXACT []
synonym: "Juvenile-Type Metachromatic Leukodystrophy" EXACT []
synonym: "Metachromatic Leukodystrophies" EXACT []
synonym: "metachromatic leukodystrophies, adult" NARROW []
synonym: "metachromatic leukodystrophies, adult-type" NARROW []
synonym: "METACHROMATIC LEUKODYSTROPHY, ADULT" NARROW []
synonym: "metachromatic leukodystrophy, adult-type" NARROW []
synonym: "METACHROMATIC LEUKODYSTROPHY, JUVENILE" NARROW []
synonym: "METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE" NARROW []
synonym: "METACHROMATIC LEUKODYSTROPHY, MILD" NARROW []
synonym: "METACHROMATIC LEUKODYSTROPHY, SEVERE" NARROW []
synonym: "METACHROMATIC LEUKODYSTROPHY VARIANT" RELATED []
synonym: "Metachromatic Leukoencephalopathies" EXACT []
synonym: "metachromatic leukoencephalopathy" EXACT []
synonym: "MLD" EXACT []
synonym: "Scholz cerebral sclerosis" EXACT []
synonym: "sulfatide lipidosis" EXACT []
synonym: "sulfatide lipoidosis" EXACT []
xref: GARD:3230
xref: ICD10CM:E75.25
xref: MESH:D007966
xref: NCI:C61251
xref: ORDO:512
is_a: DOID:1927 ! sphingolipidosis
is_a: DOID:9002902 ! Sulfatidosis
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases

[Term]
id: DOID:10582
name: Refsum disease
alt_id: MIM:266500
def: "A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. (DO)" [https://en.wikipedia.org/wiki/Refsum_disease "DO", https://medlineplus.gov/genetics/condition/refsum-disease/ "DO", https://pubmed.ncbi.nlm.nih.gov/30578512/ "DO", https://rarediseases.org/rare-diseases/refsum-disease/ "DO", MESH:D012035]
synonym: "Adult Refsum Disease" EXACT []
synonym: "adult Refsum diseases" EXACT []
synonym: "Classic Refsum Disease" EXACT []
synonym: "Classic Refsum Diseases" EXACT []
synonym: "Hemeralopia Heredoataxia Polyneuritiformis" EXACT []
synonym: "Hereditary Motor And Sensory Neuropathy Iv" EXACT []
synonym: "Hereditary Motor and Sensory Neuropathy Type IV" EXACT []
synonym: "Heredopathia Atactica Polyneuritiformis" EXACT []
synonym: "HMSN 4" EXACT []
synonym: "HMSN4" EXACT []
synonym: "HMSN IV" EXACT []
synonym: "HMSN Type IV" EXACT []
synonym: "HSMN IV" EXACT []
synonym: "PHYH-RELATED CONDITION" EXACT []
synonym: "Phytanic Acid Oxidase Deficiency" EXACT []
synonym: "Phytanic Acid Storage Disease" EXACT []
synonym: "Refsum's disease" EXACT []
synonym: "Refsum's Syndrome" EXACT []
synonym: "Refsum Disease, Phytanic Acid Oxidase Deficiency" EXACT []
synonym: "Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency" EXACT []
synonym: "Refsums disease" EXACT []
synonym: "Refsums Syndrome" EXACT []
synonym: "Refsum Syndrome" EXACT []
synonym: "Refsum Thiebaut Syndrome" EXACT []
synonym: "Refsum-Thiebaut syndromes" EXACT []
xref: GARD:5691
xref: ICD10CM:G60.1
xref: ICD9CM:356.3
xref: MESH:D012035
xref: NCI:C85043
xref: ORDO:773
is_a: DOID:2477 ! motor peripheral neuropathy
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:906 ! peroxisomal disease

[Term]
id: DOID:10584
name: retinitis pigmentosa
alt_id: MIM:268000
alt_id: OMIA:001455
alt_id: OMIA:001918
def: "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. (DO)" [http://en.wikipedia.org/wiki/Retinitis_pigmentosa "DO", http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/ "DO", https://www.genome.gov/Genetic-Disorders/Retinitis-Pigmentosa "DO"]
synonym: "autosomal dominant retinitis pigmentosa" NARROW []
synonym: "autosomal recessive retinitis pigmentosa" NARROW []
synonym: "pericentral pigmentary retinopathy" EXACT []
synonym: "pigmentary retinopathies" EXACT []
synonym: "pigmentary retinopathy" EXACT []
synonym: "progressive retinal atrophy, type 3" NARROW []
synonym: "retinitis pigmentosa, dominant" NARROW []
synonym: "retinitis pigmentosa, dominant/recessive" NARROW []
synonym: "retinitis pigmentosa, recessive" NARROW []
synonym: "RP" EXACT []
synonym: "syndromic retinitis pigmentosa" NARROW []
synonym: "syndromic RP" NARROW []
synonym: "tapetoretinal degeneration" EXACT []
synonym: "tapetoretinal degenerations" EXACT []
xref: EFO:0020026
xref: EFO:0020028
xref: GARD:5694
xref: ICD10CM:H35.52
xref: MESH:D012174
xref: MIM:PS268000
xref: MONDO:0019200
xref: NCI:C85045
xref: ORDO:791
is_a: DOID:8466 ! retinal degeneration
is_a: DOID:8501 ! fundus dystrophy
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:10587
name: Krabbe disease
alt_id: MIM:245200
alt_id: OMIA:000578
def: "An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses." [MESH:D007965]
synonym: "beta galactocerebrosidase deficiency" EXACT []
synonym: "classic globoid cell leukodystrophy" EXACT []
synonym: "Diffuse Globoid Body Sclerosis" EXACT []
synonym: "Early Onset Globoid Cell Leukodystrophy" EXACT []
synonym: "galactocerebrosidase deficiencies" EXACT []
synonym: "Galactocerebrosidase Deficiency" EXACT []
synonym: "Galactosylceramidase Deficiency Disease" EXACT []
synonym: "galactosylceramidase deficiency diseases" EXACT []
synonym: "galactosylceramide beta-galactosidase deficiencies" EXACT []
synonym: "Galactosylceramide beta Galactosidase Deficiency" EXACT []
synonym: "Galactosylceramide beta Galactosidase Deficiency Disease" EXACT []
synonym: "galactosylceramide-beta-galactosidase deficiency diseases" EXACT []
synonym: "Galactosylceramide Lipidosis" EXACT []
synonym: "Galactosylcerebrosidase Deficiency" EXACT []
synonym: "Galactosylsphingosine Lipidosis" EXACT []
synonym: "GALC Deficiencies" EXACT []
synonym: "GALC Deficiency" EXACT []
synonym: "GCL" EXACT []
synonym: "GLD" EXACT []
synonym: "Globoid Cell Leukodystrophies" EXACT []
synonym: "Globoid Cell Leukodystrophy" EXACT []
synonym: "Globoid Cell Leukoencephalopathies" EXACT []
synonym: "Globoid Cell Leukoencephalopathy" EXACT []
synonym: "Globoid Leukodystrophies" EXACT []
synonym: "Globoid Leukodystrophy" EXACT []
synonym: "Infantile Globoid Cell Leukodystrophy" EXACT []
synonym: "Krabbe's Disease" EXACT []
synonym: "Krabbe's leukodystrophy" EXACT []
synonym: "Krabbe Leukodystrophy" EXACT []
synonym: "Krabbes disease" EXACT []
synonym: "Krabbes leukodystrophy" EXACT []
synonym: "late onset globoid cell leukodystrophy" EXACT []
synonym: "psychosine lipidosis" EXACT []
xref: GARD:6844
xref: ICD10CM:E75.23
xref: MESH:D007965
xref: NCI:C133088
xref: NCI:C61254
is_a: DOID:1927 ! sphingolipidosis
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases

[Term]
id: DOID:10588
name: adrenoleukodystrophy
alt_id: MIM:300100
def: "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. (DO)" [http://en.wikipedia.org/wiki/Adrenoleukodystrophy "DO", https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy "DO"]
synonym: "Addison disease and cerebral sclerosis" EXACT []
synonym: "adrenomyeloneuropathy" RELATED []
synonym: "ALD" EXACT []
synonym: "ALD (adrenoleukodystrophy)" EXACT []
synonym: "AMN" RELATED []
synonym: "Bronze Schilder disease" EXACT []
synonym: "diffuse sclerosis" EXACT []
synonym: "Encephalitis periaxialis concentrica" EXACT []
synonym: "Encephalitis periaxialis, Schilder's" EXACT []
synonym: "Leukodystrophies, Melanodermic" EXACT []
synonym: "Melanodermic Leukodystrophy" EXACT []
synonym: "MELANODERMIC LEUKODYSTROPHY ADRENOMYELONEUROPATHY" NARROW []
synonym: "Schilder Addison Complex" EXACT []
synonym: "Siemerling Creutzfeldt disease" EXACT []
synonym: "sudanophilic cerebral sclerosis" EXACT []
synonym: "X ALD" EXACT []
synonym: "X ALD (X-linked adrenoleukodystrophy)" EXACT []
synonym: "X-linked adrenoleukodystrophy" EXACT []
synonym: "X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY" NARROW []
xref: ICD10CM:E71.52
xref: MESH:D000326
xref: NCI:C61252
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders
is_a: DOID:9008622 ! Adrenal Insufficiency
is_a: DOID:906 ! peroxisomal disease

[Term]
id: DOID:1059
name: intellectual disability
def: "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. (DO)" [http://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU "DO", https://en.wikipedia.org/wiki/Intellectual_disability "DO"]
synonym: "autosomal recessive non-syndromic intellectual disability" NARROW []
synonym: "CLIP1-RELATED INTELLECTUAL DISABILITY" NARROW []
synonym: "idiocy" EXACT []
synonym: "intellectual deficiency" EXACT []
synonym: "intellectual deficiency, moderate" NARROW []
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER" EXACT []
synonym: "Intellectual Development Disorder" EXACT []
synonym: "intellectual development disorders" EXACT []
synonym: "Intellectual Disabilities" EXACT []
synonym: "INTELLECTUAL DISABILITY (MODERATE)" NARROW []
synonym: "intellectual disability, dominant" NARROW []
synonym: "Intellectual disability, mild" NARROW []
synonym: "INTELLECTUAL DISABILITY, PROFOUND" NARROW []
synonym: "INTELLECTUAL DISABILITY, RECESSIVE" NARROW []
synonym: "INTELLECTUAL DISABILITY, SEVERE" NARROW []
synonym: "Intellectual disability syndrome" NARROW []
synonym: "intellectual disability with severe speech impairment" NARROW []
synonym: "INTELLECTUAL FUNCTIONING DISABILITY" EXACT []
synonym: "mental deficiencies" EXACT []
synonym: "mental deficiency" EXACT []
synonym: "mental retardation" EXACT []
synonym: "psychosocial mental retardation" NARROW []
synonym: "psychosocial mental retardations" NARROW []
synonym: "severe intellectual deficiency" NARROW []
synonym: "syndromic intellectual disability" NARROW []
xref: EFO:0003847
xref: MESH:D008607
xref: NCI:C84392
xref: NCI:C97250
is_a: DOID:0060038 ! specific developmental disorder
is_a: DOID:9002320 ! Neurobehavioral Manifestations
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:10590
name: mild pre-eclampsia
def: "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. (DO)" [https://www.britannica.com/science/mild-preeclampsia "DO"]
xref: ICD9CM:642.40
is_a: DOID:10591 ! pre-eclampsia
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:10591
name: pre-eclampsia
def: "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. (DO)" [http://en.wikipedia.org/wiki/Pre-eclampsia "DO", http://ghr.nlm.nih.gov/condition/preeclampsia "DO", https://www.ncbi.nlm.nih.gov/pubmed/24400024 "DO"]
synonym: "edema proteinuria hypertension gestosis" EXACT []
synonym: "EPH Complex" EXACT []
synonym: "EPH Gestosis" EXACT []
synonym: "EPOXIDE HYDROLASE POLYMORPHISM" RELATED []
synonym: "gestational hypertension" EXACT []
synonym: "HELLP" RELATED []
synonym: "HEMOLYSIS, ELEVATED LIVER ENZYMES, AND LOW PLATELET COUNT" RELATED []
synonym: "hypertension induced by pregnancy" EXACT []
synonym: "PEE" EXACT []
synonym: "Preeclampsia" EXACT []
synonym: "preeclampsia/eclampsia" EXACT []
synonym: "Preeclampsia, susceptibility to" RELATED []
synonym: "pregnancy associated hypertension" EXACT []
synonym: "proteinuric hypertension of pregnancy" EXACT []
xref: EFO:0000668
xref: ICD10CM:O14
xref: ICD10CM:O14.9
xref: ICD10CM:O14.90
xref: MESH:D011225
xref: MIM:PS189800
xref: NCI:C34943
xref: NCI:C85021
xref: ORDO:275555
is_a: DOID:9001650 ! Pregnancy-Induced Hypertension

[Term]
id: DOID:10593
name: idiopathic progressive polyneuropathy
xref: ICD9CM:356.4
is_a: DOID:1389 ! polyneuropathy
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:10595
name: Charcot-Marie-Tooth disease
alt_id: MIM:180800
def: "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. (DO)" [https://www.genome.gov/11009201 "DO", https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease "DO"]
synonym: "Charcot Marie disease" EXACT []
synonym: "Charcot Marie Tooth hereditary neuropathy" EXACT []
synonym: "Charcot Marie Tooth muscular atrophy" EXACT []
synonym: "Charcot Marie Tooth syndrome" EXACT []
synonym: "CMT - Charcot-Marie-Tooth disease" EXACT []
synonym: "hereditary areflexic dystasia" EXACT []
synonym: "hereditary areflexic dystasias" EXACT []
synonym: "peroneal muscular atrophies" EXACT []
synonym: "peroneal muscular atrophy" EXACT []
synonym: "Roussy Levy disease" EXACT []
synonym: "Roussy Levy hereditary areflexic dystasia" EXACT []
synonym: "Roussy Levy syndrome" EXACT []
xref: EFO:0004148
xref: GARD:6034
xref: ICD9CM:356.1
xref: MESH:D002607
xref: MIM:PS118220
xref: MONDO:0015626
xref: NCI:C75467
is_a: DOID:2477 ! motor peripheral neuropathy
is_a: DOID:440 ! neuromuscular disease

[Term]
id: DOID:106
name: pleural tuberculosis
def: "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17426219 "DO"]
synonym: "Pearly disease" EXACT []
synonym: "Pleural Tuberculoses" EXACT []
synonym: "tuberculosis of pleura" EXACT []
synonym: "Tuberculous Pleurisies" EXACT []
synonym: "Tuberculous Pleurisy" EXACT []
synonym: "tuberculous pleurisy in primary progressive tuberculosis" EXACT []
synonym: "tuberculous pleuritis" EXACT []
xref: EFO:0007446
xref: ICD10CM:A15.6
xref: ICD9CM:010.1
xref: ICD9CM:012.0
xref: MESH:D014396
xref: NCI:C26898
is_a: DOID:0050598 ! extrapulmonary tuberculosis
is_a: DOID:1205 ! allergic disease
is_a: DOID:1532 ! pleural disease
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:1060
name: Hartnup disease
alt_id: MIM:234500
def: "An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup "DO"]
synonym: "aminoaciduria, Hartnup type" EXACT []
synonym: "deficiency of tryptophan oxygenase" EXACT []
synonym: "Hartnup disorder" EXACT []
synonym: "HND" EXACT []
synonym: "neutral 1 amino acid transport defect" EXACT []
synonym: "neutral amino acids transport disorder" EXACT []
synonym: "Neutral Amino Acid Transport Defect" EXACT []
synonym: "neutral amino acid transport disorder" EXACT []
xref: GARD:6569
xref: ICD10CM:E72.02
xref: MESH:D006250
xref: NCI:C84748
xref: ORDO:2116
is_a: DOID:9002207 ! Renal Aminoacidurias
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9005730 ! Amino Acid Transport Disorders, Inborn
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:10600
name: chronic tic disorder
def: "A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. (DO)" [http://en.wikipedia.org/wiki/Tic_disorder "DO"]
synonym: "chronic motor or vocal tic disorder" EXACT []
xref: ICD10CM:F95.1
xref: ICD9CM:307.22
xref: NCI:C116768
is_a: DOID:2769 ! tic disorder
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:10603
name: glucose intolerance
def: "A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION." [MESH:D018149]
synonym: "glucose intolerances" EXACT []
synonym: "glucose malabsorption" EXACT []
synonym: "impaired glucose tolerance" EXACT []
synonym: "impaired glucose tolerances" EXACT []
synonym: "malabsorption of glucose" EXACT []
xref: ICD10CM:R73.03
xref: MESH:D018149
xref: NCI:C34646
is_a: DOID:4195 ! hyperglycemia

[Term]
id: DOID:10604
name: lactose intolerance
def: "A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose. (DO)" [https://medlineplus.gov/genetics/condition/lactose-intolerance/ "DO"]
synonym: "alactasia" EXACT []
synonym: "Dairy Product Intolerance" EXACT []
synonym: "Hypolactasia" EXACT []
synonym: "Lactose Malabsorption" EXACT []
synonym: "LM - lactose malabsorption" EXACT []
synonym: "milk sugar intolerance" EXACT []
xref: EFO:1000062
xref: ICD10CM:E73
xref: MESH:D007787
xref: NCI:C3154
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:9002984 ! Malabsorption Syndromes

[Term]
id: DOID:10605
name: short bowel syndrome
alt_id: MESH:D012778
def: "An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine. (DO)" [https://rarediseases.org/rare-diseases/short-bowel-syndrome/ "DO"]
synonym: "acquired short bowel syndrome" RELATED []
synonym: "congenital short bowel syndrome" EXACT []
synonym: "congenital short bowel syndrome 1" EXACT []
synonym: "CONGENITAL SHORT BOWEL SYNDROME, AUTOSOMAL RECESSIVE" EXACT []
synonym: "CSBS" EXACT []
synonym: "short gut syndrome" EXACT []
xref: MIM:615237
xref: NCI:C99059
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9000790 ! Postoperative Complications
is_a: DOID:9002984 ! Malabsorption Syndromes

[Term]
id: DOID:10606
name: blind loop syndrome
def: "An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. (DO)" [https://en.wikipedia.org/wiki/Blind_loop_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/20572300 "DO"]
synonym: "bacterial overgrowth syndrome" EXACT []
synonym: "Stagnant Loop Syndrome" EXACT []
synonym: "stagnant loop syndromes" EXACT []
xref: EFO:0007175
xref: ICD10CM:K90.2
xref: ICD9CM:579.2
xref: MESH:D001765
xref: NCI:C34431
is_a: DOID:9002984 ! Malabsorption Syndromes

[Term]
id: DOID:10607
name: tropical sprue
def: "A chronic malabsorption syndrome, occurring mainly in residents of or visitors to the tropics or subtropics. The failed INTESTINAL ABSORPTION of nutrients from the SMALL INTESTINE results in MALNUTRITION and ANEMIA that is due to FOLIC ACID deficiency." [MESH:D013182]
synonym: "Idiopathic Tropical Malabsorption Syndrome" EXACT []
synonym: "tropical steatorrhea" EXACT []
xref: GARD:7824
xref: ICD10CM:K90.1
xref: ICD9CM:579.1
xref: MESH:D013182
xref: NCI:C45428
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9002984 ! Malabsorption Syndromes

[Term]
id: DOID:10608
name: celiac disease
alt_id: MIM:212750
alt_id: MIM:607202
alt_id: MIM:609753
alt_id: MIM:609754
alt_id: MIM:609755
alt_id: MIM:611598
alt_id: MIM:612005
alt_id: MIM:612006
alt_id: MIM:612007
alt_id: MIM:612008
alt_id: MIM:612009
alt_id: MIM:612010
alt_id: MIM:612011
def: "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. (DO)" [http://en.wikipedia.org/wiki/Coeliac_disease "DO", http://www.celiac.org/ "DO", http://www.mayoclinic.com/health/celiac-disease/DS00319 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000233.htm "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease "DO"]
synonym: "AIS5" NARROW []
synonym: "CELIAC1" RELATED []
synonym: "CELIAC10" RELATED []
synonym: "CELIAC11" RELATED []
synonym: "CELIAC12" RELATED []
synonym: "CELIAC13" RELATED []
synonym: "CELIAC2" RELATED []
synonym: "CELIAC3" RELATED []
synonym: "CELIAC4" RELATED []
synonym: "CELIAC5" RELATED []
synonym: "CELIAC6" RELATED []
synonym: "CELIAC7" RELATED []
synonym: "CELIAC8" RELATED []
synonym: "CELIAC9" RELATED []
synonym: "celiac disease, susceptibility to, 1" RELATED []
synonym: "celiac disease, susceptibility to, 10" RELATED []
synonym: "celiac disease, susceptibility to, 11" RELATED []
synonym: "celiac disease, susceptibility to, 12" RELATED []
synonym: "celiac disease, susceptibility to, 13" RELATED []
synonym: "celiac disease, susceptibility to, 2" RELATED []
synonym: "celiac disease, susceptibility to, 3" RELATED []
synonym: "celiac disease, susceptibility to, 4" RELATED []
synonym: "celiac disease, susceptibility to, 5" RELATED []
synonym: "celiac disease, susceptibility to, 6" RELATED []
synonym: "celiac disease, susceptibility to, 7" RELATED []
synonym: "celiac disease, susceptibility to, 8" RELATED []
synonym: "celiac disease, susceptibility to, 9" RELATED []
synonym: "celiac sprue" EXACT []
synonym: "celiac sprue, susceptibility to, 1" RELATED []
synonym: "coeliac disease" EXACT []
synonym: "Gluten Enteropathies" EXACT []
synonym: "Gluten Enteropathy" EXACT []
synonym: "Gluten-Sensitive Enteropathies" EXACT []
synonym: "gluten-sensitive enteropathy" EXACT []
synonym: "gluten-sensitive enteropathy, susceptibility to, 1" RELATED []
synonym: "gluten-sensitive enteropathy, susceptibility to, 10" RELATED []
synonym: "gluten-sensitive enteropathy, susceptibility to, 11" RELATED []
synonym: "gluten-sensitive enteropathy, susceptibility to, 12" RELATED []
synonym: "gluten-sensitive enteropathy, susceptibility to, 13" RELATED []
synonym: "gluten-sensitive enteropathy, susceptibility to, 2" RELATED []
synonym: "gluten-sensitive enteropathy, susceptibility to, 3" RELATED []
synonym: "gluten-sensitive enteropathy, susceptibility to, 4" RELATED []
synonym: "gluten-sensitive enteropathy, susceptibility to, 5" RELATED []
synonym: "gluten-sensitive enteropathy, susceptibility to, 6" RELATED []
synonym: "gluten-sensitive enteropathy, susceptibility to, 7" RELATED []
synonym: "gluten-sensitive enteropathy, susceptibility to, 8" RELATED []
synonym: "gluten-sensitive enteropathy, susceptibility to, 9" RELATED []
synonym: "GSES" EXACT []
synonym: "idiopathic steatorrhea" EXACT []
synonym: "nontropical sprue" EXACT []
synonym: "sprue" EXACT []
xref: EFO:0001060
xref: GARD:11998
xref: ICD10CM:K90.0
xref: ICD9CM:579.0
xref: MESH:D002446
xref: MIM:PS212750
xref: NCI:C26714
xref: ORDO:555
is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract
is_a: DOID:9002984 ! Malabsorption Syndromes

[Term]
id: DOID:10609
name: rickets
def: "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. (DO)" [http://en.wikipedia.org/wiki/Rickets "DO", http://www.mayoclinic.com/health/rickets/DS00813 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000344.htm "DO", http://www.umm.edu/ency/article/000344.htm "DO", https://en.wikipedia.org/wiki/Rickets#Types "DO", https://www.ncbi.nlm.nih.gov/pubmed/26365554 "DO"]
synonym: "active rickets" EXACT [SNOMEDCT_2005_07_31:190640006]
synonym: "rachitides" EXACT []
synonym: "rachitis" EXACT []
synonym: "vitamin D hydroxylation-deficient rickets" EXACT []
xref: EFO:0005583
xref: GARD:5700
xref: ICD10CM:E55.0
xref: MESH:D012279
xref: NCI:C26878
xref: ORDO:289157
is_a: DOID:0080005 ! bone remodeling disease
is_a: DOID:10575 ! calcium metabolism disease
is_a: DOID:9002278 ! Metabolic Bone Diseases
is_a: DOID:9006359 ! Vitamin D Deficiency

[Term]
id: DOID:10610
name: pancreatic steatorrhea
synonym: "pancreatic steatorrhoea" EXACT []
xref: ICD10CM:K90.3
xref: ICD9CM:579.4
xref: RDO:9004840
is_a: DOID:26 ! pancreas disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:10611
name: protein-losing enteropathy
alt_id: MIM:226300
def: "Pathological conditions in the INTESTINES that are characterized by the gastrointestinal loss of serum proteins, including SERUM ALBUMIN; IMMUNOGLOBULINS; and at times LYMPHOCYTES. Severe condition can result in HYPOGAMMAGLOBULINEMIA or LYMPHOPENIA. Protein-losing enteropathies are associated with a number of diseases including INTESTINAL LYMPHANGIECTASIS; WHIPPLE'S DISEASE; and NEOPLASMS of the SMALL INTESTINE." [MESH:D011504]
synonym: "CD55-RELATED CONDITION" EXACT []
synonym: "CHAPLE" EXACT []
synonym: "COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY" EXACT []
synonym: "Exudative Enteropathies" EXACT []
synonym: "Exudative Enteropathy" EXACT []
synonym: "idiopathic hypercatabolic hypoproteinemia" EXACT []
synonym: "idiopathic hypercatabolic hypoproteinemias" EXACT []
synonym: "protein-losing enteropathies" EXACT []
xref: MESH:D011504
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:10612
name: allergic urticaria
def: "An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction. (DO)" [https://www.aafp.org/afp/2017/0601/p717.html "DO"]
xref: EFO:1000669
xref: ICD10CM:L50.0
xref: ICD9CM:708.0
is_a: DOID:1205 ! allergic disease
is_a: DOID:1555 ! urticaria
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:10615
name: acute gonococcal cervicitis
def: "An acute cervicitis that is caused by gonorrhea. (DO)" [https://www.mayoclinic.org/diseases-conditions/cervicitis/symptoms-causes/syc-20370814 "DO"]
synonym: "acute gonorrhea of cervix" EXACT []
synonym: "gonococcal cervicitis" EXACT []
xref: ICD9CM:098.15
is_a: DOID:10616 ! acute cervicitis
is_a: DOID:7551 ! gonorrhea
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:10616
name: acute cervicitis
def: "A cervicitis that is characterized by onset within the past 1 - 3 days. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23606387 "DO"]
xref: NCI:C27056
is_a: DOID:2568 ! cervicitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:10619
name: lymph node cancer
def: "A lymphatic system cancer that is located_in the lymph node. (DO)" [http://www.cancer.org/cancer/cancerbasics/lymph-nodes-and-cancer "DO"]
synonym: "lymph node neoplasm" EXACT []
xref: GARD:6932
xref: NCI:C35497
is_a: DOID:0060073 ! lymphatic system cancer
is_a: DOID:9942 ! lymph node disease

[Term]
id: DOID:1062
name: Fanconi syndrome
def: "A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. (DO)" [http://en.wikipedia.org/wiki/Fanconi_syndrome "DO", http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm "DO"]
synonym: "adult Fanconi anemia" EXACT []
synonym: "adult Fanconi syndrome" EXACT []
synonym: "congenital Fanconi syndrome" EXACT []
synonym: "De Toni-Debre-Fanconi Syndrome" EXACT []
synonym: "deToni Fanconi syndrome" EXACT []
synonym: "Fanconi-de-Toni syndrome" EXACT []
synonym: "Fanconi Renotubular Syndrome" EXACT []
synonym: "Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance" EXACT []
synonym: "Fanconi Syndrome without Cystinosis" EXACT []
synonym: "FRTS" EXACT []
synonym: "Hepatic Glycogenosis with Amino Aciduria and Glucosuria" EXACT []
synonym: "Hepatic Glycogenosis with Fanconi Nephropathy" EXACT []
synonym: "Hepatorenal Glycogenosis with Renal Fanconi Syndrome" EXACT []
synonym: "Idiopathic De Toni-Debre-Fanconi Syndrome" EXACT []
synonym: "Lignac Fanconi Syndrome" EXACT []
synonym: "Luder Sheldon Syndrome" EXACT []
synonym: "Neonatal De Toni-Debre-Fanconi Syndrome" EXACT []
synonym: "Primary Toni-Debre-Fanconi Syndrome" EXACT []
synonym: "proximal renal tubular dysfunction" EXACT []
synonym: "pseudo phlorizin diabetes" EXACT []
synonym: "renal Fanconi syndrome" EXACT []
synonym: "RFS" EXACT []
synonym: "Toni-Debre-Fanconi syndrome" EXACT []
xref: GARD:9118
xref: MESH:D005198
xref: MIM:PS134600
xref: NCI:C3034
xref: NCI:C4377
xref: ORDO:3337
is_a: DOID:225 ! syndrome
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:10627
name: primary optic atrophy
xref: ICD10CM:H47.21
xref: ICD9CM:377.11
xref: RDO:9003215
is_a: DOID:5723 ! optic atrophy
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:10629
name: microphthalmia
def: "An eye disease where one or both eyeballs are abnormally small. (DO)" [http://en.wikipedia.org/wiki/Microphthalmia "DO", http://ghr.nlm.nih.gov/condition/microphthalmia "DO"]
synonym: "anophthalmia/microphthalmia" EXACT []
synonym: "BILATERAL MICROPHTHALMOS" NARROW []
synonym: "COMPLEX MICROPHTHALMIA" NARROW []
synonym: "microphthalmos" EXACT []
synonym: "simple microphthalmos" NARROW []
synonym: "UNILATERAL MICROPHTHALMOS" NARROW []
xref: EFO:0005569
xref: GARD:12085
xref: ICD10CM:Q11.2
xref: ICD9CM:743.1
xref: MESH:D008850
xref: MIM:PS251600
xref: NCI:C98989
is_a: DOID:5614 ! eye disease
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:1063
name: interstitial nephritis
def: "Inflammation of the interstitial tissue of the kidney. This term is generally used for primary inflammation of KIDNEY TUBULES and/or surrounding interstitium. For primary inflammation of glomerular interstitium, see GLOMERULONEPHRITIS. Infiltration of the inflammatory cells into the interstitial compartment results in EDEMA, increased spaces between the tubules, and tubular renal dysfunction." [MESH:D009395]
synonym: "interstitial nephritides" EXACT []
synonym: "renal tubulo-interstitial disease" EXACT []
synonym: "tubulointerstitial nephritides" EXACT []
synonym: "tubulointerstitial nephritis" EXACT []
xref: ICD10CM:N12
xref: MESH:D009395
xref: NCI:C26834
is_a: DOID:10952 ! nephritis

[Term]
id: DOID:10631
name: partial optic atrophy
xref: ICD9CM:377.15
is_a: DOID:5723 ! optic atrophy
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:10632
name: Wolfram syndrome
def: "A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. (DO)" [http://en.wikipedia.org/wiki/Wolfram_syndrome "DO"]
synonym: "diabetes insipidus and mellitus with optic atrophy and deafness" EXACT []
synonym: "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness" EXACT []
synonym: "DIDMOAD" EXACT []
synonym: "DIDMOAD syndrome" EXACT []
synonym: "DIDMOADUD" EXACT []
synonym: "WFS" EXACT []
xref: GARD:7898
xref: MESH:D014929
xref: NCI:C35133
xref: ORDO:3463
is_a: DOID:9005165 ! Deaf-Blind Disorders
is_a: DOID:9005850 ! Hereditary Optic Atrophies
is_a: DOID:9409 ! diabetes insipidus
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:1064
name: cystinosis
alt_id: MIM:219800
def: "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. (DO)" [http://ghr.nlm.nih.gov/condition/cystinosis "DO", https://en.wikipedia.org/wiki/Cystinosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/12110740 "DO"]
synonym: "CTNS" EXACT []
synonym: "cystine diatheses" EXACT []
synonym: "Cystine Diathesis" EXACT []
synonym: "Cystine Disease" EXACT []
synonym: "cystine diseases" EXACT []
synonym: "Cystine Storage Disease" EXACT []
synonym: "Cystine Storage Diseases" EXACT []
synonym: "Cystinoses" EXACT []
synonym: "CYSTINOSIS, ATYPICAL NEPHROPATHIC" NARROW []
synonym: "Defect of Cystinosin" EXACT []
synonym: "defect of lysosomal cystine transport protein" EXACT []
synonym: "nephropathic cystinoses" EXACT []
synonym: "nephropathic cystinosis" EXACT []
xref: GARD:6236
xref: MESH:D003554
xref: NCI:C129932
xref: NCI:C2976
xref: ORDO:213
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3211 ! lysosomal storage disease

[Term]
id: DOID:10646
name: schizotypal personality disorder
def: "A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. (DO)" [http://en.wikipedia.org/wiki/Schizotypal_personality_disorder "DO"]
synonym: "Borderline Schizophrenia" EXACT []
synonym: "borderline schizophrenias" EXACT []
synonym: "Incipient Schizophrenia" EXACT []
synonym: "Incipient Schizophrenias" EXACT []
synonym: "Latent Schizophrenia" EXACT []
synonym: "Latent Schizophrenias" EXACT []
synonym: "Pseudoneurotic Schizophrenia" EXACT []
synonym: "Pseudoneurotic Schizophrenias" EXACT []
synonym: "Pseudopsychopathic Schizophrenia" EXACT []
synonym: "Pseudopsychopathic Schizophrenias" EXACT []
synonym: "schizotypal personality disorders" EXACT []
xref: ICD10CM:F21
xref: ICD9CM:301.22
xref: MESH:D012569
xref: NCI:C92632
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:10648
name: acute inferoposterior infarction
xref: ICD9CM:410.30
is_a: DOID:9408 ! acute myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:10649
name: acute inferolateral myocardial infarction
xref: ICD9CM:410.20
is_a: DOID:9408 ! acute myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:10651
name: acute anterolateral myocardial infarction
xref: ICD9CM:410.0
is_a: DOID:9408 ! acute myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:10652
name: Alzheimer's disease
alt_id: MIM:502500
def: "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. (DO)" [http://en.wikipedia.org/wiki/Alzheimer%27s_disease "DO", http://www.merriam-webster.com/medical/alzheimer%27s%20disease "DO", http://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet "DO"]
synonym: "acute confusional senile dementia" EXACT []
synonym: "AD" EXACT []
synonym: "alpha-2-macroglobulin polymorphism" RELATED []
synonym: "Alzheimer dementia (AD)" EXACT []
synonym: "Alzheimer disease" EXACT []
synonym: "Alzheimer disease, association with" RELATED []
synonym: "Alzheimer Disease, Early-Onset, Susceptibility To" RELATED []
synonym: "ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY" NARROW []
synonym: "Alzheimer Disease, Late-Onset, Susceptibility To" RELATED []
synonym: "ALZHEIMER DISEASE, PROTECTION AGAINST" NARROW []
synonym: "Alzheimer Disease, Susceptibility To" EXACT []
synonym: "Alzheimer Sclerosis" EXACT []
synonym: "Alzheimers dementia" EXACT []
synonym: "Alzheimer Syndrome" EXACT []
synonym: "Alzheimer Type Dementia" EXACT []
synonym: "Alzheimer Type Dementia (ATD)" EXACT []
synonym: "Alzheimer Type Senile Dementia" EXACT []
synonym: "Early Onset Alzheimer Disease" EXACT []
synonym: "EARLY-ONSET FAMILIAL ALZHEIMER DISEASE" NARROW []
synonym: "familial Alzheimer disease" RELATED []
synonym: "Familial Alzheimer Disease (FAD)" EXACT []
synonym: "Focal Onset Alzheimer's Disease" EXACT []
synonym: "Late Onset Alzheimer Disease" NARROW []
synonym: "late-onset Alzheimers disease" NARROW []
synonym: "presenile Alzheimer dementia" EXACT []
synonym: "presenile and senile dementia" NARROW []
synonym: "presenile dementia" EXACT []
synonym: "primary senile degenerative dementia" EXACT []
synonym: "SDAT" EXACT []
synonym: "senile dementia" EXACT []
synonym: "transferrin variant C1/C2" RELATED []
xref: EFO:0000249
xref: EFO:1001870
xref: GARD:10254
xref: ICD9CM:331.0
xref: MESH:D000544
xref: MONDO:0004975
xref: NCI:C2866
is_a: DOID:1307 ! dementia
is_a: DOID:680 ! tauopathy

[Term]
id: DOID:10655
name: lipoma of colon
synonym: "colonic lipoma" EXACT []
xref: NCI:C5493
xref: RDO:9004391
is_a: DOID:4118 ! colon neuroendocrine neoplasm
is_a: DOID:6460 ! large intestine lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10656
name: colon leiomyoma
synonym: "colonic leiomyoma" EXACT []
xref: NCI:C5492
is_a: DOID:5143 ! large bowel leiomyoma
is_a: DOID:5353 ! colonic disease
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:10657
name: colonic lymphangioma
synonym: "lymphangioma of colon" EXACT []
xref: MONDO:0001093
xref: NCI:C5500
is_a: DOID:1475 ! lymphangioma
is_a: DOID:235 ! colonic benign neoplasm
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:1066
name: residual stage of open angle glaucoma
synonym: "open-angle glaucoma residual stage" EXACT []
xref: ICD10CM:H40.15
xref: ICD9CM:365.15
is_a: DOID:1067 ! open-angle glaucoma
is_a: DOID:9007746 ! Glaucoma 1, Open Angle, O
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:10660
name: mediastinum neuroblastoma
def: "A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. (DO)" [http://www.cancer.gov/dictionary?CdrID=45418 "DO"]
synonym: "neuroblastoma of mediastinum" EXACT [NCI2004_11_17:C6628]
xref: EFO:1000367
xref: NCI:C6628
xref: RDO:9002771
is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:10661
name: mediastinum ganglioneuroblastoma
synonym: "ganglioneuroblastoma of mediastinum" EXACT []
xref: NCI:C6627
is_a: DOID:10660 ! mediastinum neuroblastoma
is_a: DOID:4163 ! ganglioneuroblastoma
is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:1067
name: open-angle glaucoma
def: "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. (DO)" [http://en.wikipedia.org/wiki/Glaucoma "DO", http://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html "DO"]
synonym: "compensated glaucoma" EXACT []
synonym: "compensated glaucomas" EXACT []
synonym: "Compensative Glaucoma" EXACT []
synonym: "Compensative Glaucomas" EXACT []
synonym: "Glaucoma Simplex" EXACT []
synonym: "glaucoma simplices" EXACT []
synonym: "Open Angle Glaucomas" EXACT []
synonym: "Pigmentary Glaucoma" NARROW []
synonym: "Pigmentary Glaucomas" NARROW []
synonym: "Simple Glaucoma" EXACT []
synonym: "simple glaucomas" EXACT []
synonym: "wide-angle glaucoma" EXACT []
xref: EFO:0004190
xref: EFO:0021425
xref: ICD10CM:H40.1
xref: ICD9CM:365.1
xref: MESH:D005902
xref: NCI:C34641
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:1068
name: juvenile glaucoma
alt_id: MIM:137750
def: "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures. (DO)" [https://eyewiki.aao.org/Juvenile_open_angle_glaucoma "DO", https://ghr.nlm.nih.gov/condition/early-onset-glaucoma "DO"]
synonym: "Glaucoma 1, Open Angle, A" EXACT []
synonym: "GLAUCOMA 1, OPEN ANGLE, A, AUTOSOMAL RECESSIVE" NARROW []
synonym: "GLAUCOMA 1, OPEN ANGLE, A, DIGENIC" NARROW []
synonym: "glaucoma of childhood" EXACT []
synonym: "GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1" NARROW []
synonym: "GLC1A" EXACT []
synonym: "GLC1L" NARROW []
synonym: "JOAG1 GLAUCOMA 1, OPEN ANGLE, L" NARROW []
synonym: "MYOC-related disorders" BROAD []
xref: MESH:C564234
xref: ORDO:98977
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1070 ! primary open angle glaucoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:10685
name: separation anxiety disorder
def: "An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. (DO)" [http://en.wikipedia.org/wiki/Separation_anxiety_disorder "DO"]
synonym: "separation anxiety" EXACT []
xref: EFO:1001916
xref: MESH:D001010
is_a: DOID:2030 ! anxiety disorder
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:10686
name: lactocele
def: "A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands. (DO)" [https://en.wikipedia.org/wiki/Galactocele "DO"]
synonym: "galactocele" EXACT []
synonym: "Galactocoele" EXACT []
synonym: "Galactocoele of childhood" EXACT []
synonym: "lacteal cyst" EXACT []
xref: ICD10CM:N64.89
xref: ICD9CM:611.5
xref: MESH:C535998
xref: NCI:C3515
is_a: DOID:10350 ! breast cyst

[Term]
id: DOID:10688
name: hypertrophy of breast
def: "A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue. (DO)" [https://en.wikipedia.org/wiki/Breast_hypertrophy "DO"]
synonym: "breasts enlarged" EXACT []
synonym: "large breast" EXACT []
xref: ICD9CM:611.1
xref: NCI:C3125
is_a: DOID:3463 ! breast disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:10690
name: mastitis
def: "A breast disease characterized by painful infection of the breast tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25940456 "DO"]
synonym: "breast inflammation" EXACT []
synonym: "inflammatory breast disease" EXACT []
synonym: "inflammatory disease of breast" EXACT []
xref: EFO:1001034
xref: MESH:D008413
xref: NCI:C53662
is_a: DOID:3463 ! breast disease
is_a: DOID:9001791 ! Puerperal Disorders

[Term]
id: DOID:10691
name: fat necrosis of breast
def: "A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury. (DO)" [https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/fat-necrosis-and-oil-cysts-in-the-breast.html "DO"]
synonym: "breast fat necrosis" EXACT []
xref: ICD10CM:N64.1
xref: ICD9CM:611.3
xref: NCI:C3661
is_a: DOID:3463 ! breast disease
is_a: DOID:9007691 ! Fat Necrosis
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:10697
name: chronic endophthalmitis
xref: ICD9CM:360.03
xref: RDO:9003026
is_a: DOID:9724 ! purulent endophthalmitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:10699
name: paragonimiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm "DO"]
synonym: "Infection by Paragonimus" EXACT []
synonym: "lung fluke disease" EXACT []
synonym: "lung fluke infection" EXACT []
synonym: "Paragonimiases" EXACT []
synonym: "Paragonimus westermani Infection" EXACT []
synonym: "pulmonary paragonimiasis" EXACT []
xref: EFO:0007418
xref: GARD:9815
xref: ICD10CM:B66.4
xref: ICD9CM:121.2
xref: MESH:D010237
xref: NCI:C84995
is_a: DOID:2529 ! splenic disease
is_a: DOID:409 ! liver disease
is_a: DOID:888 ! fasciolopsiasis
is_a: DOID:936 ! brain disease

[Term]
id: DOID:1070
name: primary open angle glaucoma
alt_id: MIM:137760
alt_id: OMIA:001870
alt_id: OMIA:001976
def: "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464971/ "DO"]
synonym: "chronic simple glaucoma" EXACT []
synonym: "GLAUCOMA 1, OPEN ANGLE, E" NARROW []
synonym: "GLC1E" NARROW []
synonym: "POAG" EXACT []
synonym: "primary open angle glaucoma, ADAMTS10-related" NARROW []
synonym: "primary open angle glaucoma, adult-onset" NARROW []
xref: ICD10CM:H40.11
xref: ICD9CM:365.11
xref: MESH:C562750
xref: NCI:C35394
is_a: DOID:1067 ! open-angle glaucoma

[Term]
id: DOID:10718
name: giardiasis
def: "A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. (DO)" [http://en.wikipedia.org/wiki/Giardiasis "DO", http://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm "DO"]
synonym: "beaver feaver" EXACT []
synonym: "giardiases" EXACT []
synonym: "infection by Giardia lamblia" EXACT []
synonym: "lambliases" EXACT []
synonym: "lambliasis" EXACT []
xref: ICD10CM:A07.1
xref: ICD9CM:007.1
xref: MESH:D005873
is_a: DOID:2789 ! parasitic protozoa infectious disease
is_a: DOID:9002892 ! Parasitic Intestinal Diseases

[Term]
id: DOID:10719
name: toxic diffuse goiter
xref: EFO:0004237
xref: GARD:6549
xref: ICD9CM:242.00
xref: RDO:9003954
is_a: DOID:7998 ! hyperthyroidism
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:1073
name: renal hypertension
def: "Persistent high BLOOD PRESSURE due to KIDNEY DISEASES, such as those involving the renal parenchyma, the renal vasculature, or tumors that secrete RENIN." [MESH:D006977]
synonym: "renal hypertensions" EXACT []
xref: EFO:1002039
xref: MESH:D006977
xref: NCI:C3121
is_a: DOID:11130 ! secondary hypertension
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:1074
name: kidney failure
def: "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. (DO)" [http://en.wikipedia.org/wiki/Renal_failure "DO", http://www.nlm.nih.gov/medlineplus/kidneyfailure.html "DO"]
synonym: "kidney failures" EXACT []
synonym: "Kidney Insufficiencies" EXACT []
synonym: "Kidney Insufficiency" EXACT []
synonym: "Renal Failure" EXACT []
synonym: "Renal Failures" EXACT []
synonym: "Renal Insufficiencies" EXACT []
synonym: "renal unsufficiency" EXACT []
xref: EFO:1002048
xref: ICD10CM:N19
xref: ICD9CM:586
xref: MESH:D051437
xref: NCI:C4376
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:10742
name: cerebral lipidosis
xref: ICD9CM:330.1
is_a: DOID:1443 ! cerebral degeneration
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:10744
name: broad ligament malignant neoplasm
def: "A uterine adnexa cancer that is located_in the broad ligament. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26140828 "DO"]
synonym: "malignant neoplasm of broad ligament of uterus" EXACT []
xref: ICD10CM:C57.1
xref: ICD9CM:183.3
xref: NCI:C179934
is_a: DOID:11747 ! uterine adnexa cancer
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:10754
name: otitis media
alt_id: MIM:166760
def: "A otitis which involves inflammation of the middle ear. (DO)" [http://en.wikipedia.org/wiki/Otitis_media "DO"]
synonym: "A2ML1-RELATED CONDITION" EXACT []
synonym: "COME/ROM" EXACT []
synonym: "FAMILIAL OTITIS MEDIA" NARROW []
synonym: "Middle Ear Inflammation" EXACT []
synonym: "Nonsyndromic otitis media" NARROW []
synonym: "OMS" EXACT []
synonym: "OTITIS MEDIA, CHRONIC/RECURRENT" NARROW []
synonym: "OTITIS MEDIA, SUSCEPTIBILITY TO" RELATED []
synonym: "SUSCEPTIBILITY TO NONSYNDROMIC OTITIS MEDIA" RELATED []
xref: EFO:0004992
xref: ICD10CM:H66.9
xref: ICD9CM:382.9
xref: MESH:D010033
xref: NCI:C34885
is_a: DOID:5100 ! middle ear disease
is_a: DOID:9007481 ! Otitis

[Term]
id: DOID:10755
name: petrositis
def: "An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone. (DO)" [http://medical-dictionary.thefreedictionary.com/petrositis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001254.htm "DO"]
synonym: "acute petrositis" EXACT []
synonym: "chronic petrositis" EXACT []
synonym: "Gradenigo's Syndrome" EXACT []
synonym: "Gradenigo Lannois syndrome" EXACT []
synonym: "Gradenigos Syndrome" EXACT []
synonym: "Gradenigo Syndrome" EXACT []
synonym: "inflammation of petrous bone" RELATED []
synonym: "petrositides" EXACT []
synonym: "petrous apicitides" EXACT []
synonym: "petrous apicitis" EXACT []
xref: ICD10CM:H70.2
xref: ICD10CM:H70.21
xref: ICD10CM:H70.22
xref: ICD9CM:383.2
xref: ICD9CM:383.21
xref: ICD9CM:383.22
xref: MESH:D059270
xref: MONDO:0001109
is_a: DOID:1019 ! osteomyelitis
is_a: DOID:10754 ! otitis media

[Term]
id: DOID:1076
name: chronic pyelonephritis
xref: ICD10CM:N11
xref: ICD10CM:N11.9
xref: ICD9CM:590.0
xref: NCI:C123216
is_a: DOID:11400 ! pyelonephritis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10762
name: portal hypertension
def: "Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN." [MESH:D006975]
synonym: "Cruveilhier Baumgarten Syndrome" EXACT []
synonym: "NCPH" EXACT []
xref: EFO:0000666
xref: GARD:8229
xref: ICD10CM:K76.6
xref: ICD9CM:572.3
xref: MESH:D006975
xref: MIM:PS617068
xref: NCI:C3119
is_a: DOID:272 ! hepatic vascular disease

[Term]
id: DOID:10763
name: hypertension
def: "An artery disease characterized by chronic elevated blood pressure in the arteries. (DO)" [https://en.wikipedia.org/wiki/Hypertension "DO", https://www.ncbi.nlm.nih.gov/pubmed/24352797 "DO"]
synonym: "high blood pressure" EXACT []
synonym: "high blood pressures" EXACT []
synonym: "HTN" EXACT []
synonym: "hyperpiesia" EXACT []
synonym: "hypertensive disease" RELATED []
synonym: "increased aldosterone to renin ratio" RELATED []
synonym: "vascular hypertensive disorder" EXACT []
xref: EFO:0000537
xref: ICD9CM:401-405.99
xref: MESH:D006973
xref: NCI:C3117
is_a: DOID:0050828 ! artery disease

[Term]
id: DOID:10772
name: thrombotic thrombocytopenic purpura
alt_id: MIM:274150
def: "An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE." [MESH:D011697]
synonym: "ADAMTS13-RELATED CONDITION" EXACT []
synonym: "congenital microangiopathic hemolytic anemia" EXACT []
synonym: "congenital thrombotic thrombocytopenic purpura" EXACT []
synonym: "deficiency of Upshaw factor" EXACT []
synonym: "Familial Thrombotic Microangiopathy" EXACT []
synonym: "Familial Thrombotic Thrombocytopenia Purpura" EXACT []
synonym: "Familial Thrombotic Thrombocytopenic Purpura" EXACT []
synonym: "Familial thrombotic thrombocytopenic purpura / haemolytic uraemic syndrome" NARROW []
synonym: "Familial TTP/HUS" NARROW []
synonym: "hereditary thrombotic thrombocytopenic purpura" EXACT []
synonym: "hereditary thrombotic thrombocytopenic purpura, infantile- or adult-onset" EXACT []
synonym: "MICROANGIOPATHIC HEMOLYTIC ANEMIA" EXACT []
synonym: "Moschcowitz's syndrome" EXACT []
synonym: "Moschcowitz disease" EXACT []
synonym: "Moschkowitz disease" EXACT []
synonym: "thrombotic thrombocytopenic purpura, adult onset" NARROW []
synonym: "thrombotic thrombocytopenic purpura, chronic relapsing" NARROW []
synonym: "thrombotic thrombopenic purpura" EXACT []
synonym: "TTP" EXACT []
synonym: "Upshaw-Schulman syndrome" EXACT []
synonym: "USS" EXACT []
xref: GARD:9430
xref: ICD10CM:M31.19
xref: MESH:D011697
xref: NCI:C78797
is_a: DOID:2452 ! thrombophilia
is_a: DOID:9005876 ! Thrombocytopenic Purpura

[Term]
id: DOID:10773
name: bubonic plague
alt_id: DOID:0050068
def: "A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. (DO)" [https://en.wikipedia.org/wiki/Bubonic_plague "DO"]
synonym: "black death" EXACT []
synonym: "pestis minor" EXACT []
xref: GARD:183
xref: ICD10CM:A20.0
xref: ICD9CM:020.0
is_a: DOID:3482 ! plague
is_a: DOID:9942 ! lymph node disease
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:10778
name: fiedler's myocarditis
synonym: "fiedler myocarditis" EXACT []
synonym: "idiopathic myocarditis" EXACT []
synonym: "isolated (Fiedler's) myocarditis" EXACT []
xref: ICD10CM:I40.1
xref: ICD9CM:422.91
is_a: DOID:3951 ! acute myocarditis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:10779
name: septic myocarditis
def: "An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27574633 "DO"]
xref: ICD10CM:I40.0
xref: ICD9CM:422.92
is_a: DOID:3951 ! acute myocarditis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:10780
name: primary polycythemia
def: "A polycythemia that has_material_basis_in factors intrinsic to red cell precursors. (DO)" [https://en.wikipedia.org/wiki/Polycythemia#Primary_polycythemia "DO"]
synonym: "familial erythrocytosis" EXACT []
synonym: "familiar polycythemia" EXACT []
synonym: "HEMOGLOBIN JOHNSTOWN" RELATED []
synonym: "HEMOGLOBIN NEW MEXICO" RELATED []
synonym: "primary polycythemias" EXACT []
xref: ICD9CM:289.6
xref: MIM:PS133100
xref: NCI:C26955
xref: RDO:9002589
is_a: DOID:8432 ! polycythemia
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:10782
name: mesenteric lymphadenitis
def: "INFLAMMATION of LYMPH NODES in the MESENTERY." [MESH:D008640]
synonym: "mesenteric adenitis" EXACT []
synonym: "mesenteric lymphadenitides" EXACT []
xref: ICD10CM:I88.0
xref: ICD9CM:289.2
xref: MESH:D008640
xref: NCI:C26830
is_a: DOID:1602 ! lymphadenitis
is_a: DOID:9006175 ! Peritoneal Diseases

[Term]
id: DOID:10783
name: methemoglobinemia
def: "The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)" [MESH:D008708]
synonym: "HEMOGLOBIN TUBINGEN" RELATED []
synonym: "methemoglobinemias" EXACT []
xref: ICD10CM:D74
xref: ICD9CM:289.7
xref: MESH:D008708
xref: NCI:C34817
is_a: DOID:2860 ! hemoglobinopathy

[Term]
id: DOID:10784
name: Queensland tick typhus
def: "A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. (DO)" [http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"]
synonym: "Australian tick typhus" EXACT []
synonym: "North Queensland tick typhus" EXACT []
synonym: "Rickettsia australis spotted fever" EXACT []
is_a: DOID:11104 ! spotted fever
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:10787
name: premature menopause
def: "An ovarian dysfunction that is the loss of normal ovarian function before age 40. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26316242 "DO"]
synonym: "menopause praecox" EXACT []
xref: EFO:0009005
xref: ICD10CM:E28.31
xref: ICD9CM:256.31
xref: MESH:D008594
xref: NCI:C80099
is_a: DOID:1414 ! ovarian dysfunction

[Term]
id: DOID:1079
name: setariasis
def: "A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria. (DO)" [http://www.jstor.org/stable/pdfplus/3277411.pdf "DO"]
synonym: "infectious disease by Setaria" EXACT []
synonym: "setariases" EXACT []
xref: EFO:0007482
xref: MESH:D012719
is_a: DOID:1080 ! filariasis
is_a: DOID:9006372 ! Animal Helminthiasis

[Term]
id: DOID:10790
name: chronic frontal sinusitis
def: "A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"]
xref: ICD10CM:J32.1
xref: ICD9CM:473.1
xref: NCI:C34473
is_a: DOID:10791 ! frontal sinusitis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:10791
name: frontal sinusitis
def: "A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO", http://www3.niaid.nih.gov/topics/sinusitis/overview.htm "DO"]
synonym: "frontal sinusitides" EXACT []
xref: MESH:D015522
xref: NCI:C34626
is_a: DOID:0050127 ! sinusitis

[Term]
id: DOID:10792
name: chronic maxillary sinusitis
def: "A maxillary sinusitis which lasts for 12 weeks or more. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"]
synonym: "chronic antritis" EXACT []
xref: ICD9CM:473.0
xref: NCI:C34477
is_a: DOID:2051 ! maxillary sinusitis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:10793
name: chronic sphenoidal sinusitis
def: "A sphenoid sinusitis which lasts for 12 weeks or more. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO"]
synonym: "Sphenoidal sinus-chr." EXACT [SNOMEDCT_2005_07_31:266384001]
xref: ICD10CM:J32.3
xref: ICD9CM:473.3
xref: NCI:C34480
xref: RDO:9003990
is_a: DOID:10794 ! sphenoid sinusitis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:10794
name: sphenoid sinusitis
def: "A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO"]
synonym: "Sphenoidal Sinusitides" EXACT []
synonym: "Sphenoidal Sinusitis" EXACT []
synonym: "Sphenoid Sinusitides" EXACT []
xref: EFO:0007489
xref: MESH:D015524
xref: NCI:C35031
is_a: DOID:0050127 ! sinusitis
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:1080
name: filariasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. (DO)" [http://en.wikipedia.org/wiki/Filariasis "DO"]
synonym: "disease due to superfamily Filarioidea" EXACT []
synonym: "elaeophoriases" EXACT []
synonym: "elaeophoriasis" EXACT []
synonym: "Filariases" EXACT []
synonym: "filarioidea infection" EXACT []
synonym: "filarioidea infections" EXACT []
xref: ICD10CM:B74
xref: ICD9CM:125.9
xref: MESH:D005368
xref: NCI:C34611
is_a: DOID:37 ! skin disease
is_a: DOID:75 ! lymphatic system disease
is_a: DOID:9003105 ! Spirurida Infections

[Term]
id: DOID:10802
name: acute gonococcal epididymo-orchitis
synonym: "gonococcal epididymo-orchitis" EXACT []
xref: ICD9CM:098.13
is_a: DOID:7551 ! gonorrhea
is_a: DOID:9401 ! epididymo-orchitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:10808
name: gastric ulcer
def: "Ulceration of the GASTRIC MUCOSA due to contact with GASTRIC JUICE. It is often associated with HELICOBACTER PYLORI infection or consumption of nonsteroidal anti-inflammatory drugs (NSAIDS)." [MESH:D013276]
synonym: "acute gastric ulcer with haemorrhage and perforation" EXACT []
synonym: "acute gastric ulcer with hemorrhage and obstruction" EXACT []
synonym: "acute gastric ulcer with hemorrhage and perforation" EXACT []
synonym: "acute gastric ulcer with hemorrhage and perforation, with obstruction" EXACT []
synonym: "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction" EXACT []
synonym: "acute gastric ulcer with hemorrhage AND with perforation but without obstruction" EXACT []
synonym: "acute gastric ulcer with hemorrhage, with obstruction" EXACT []
synonym: "acute gastric ulcer with hemorrhage, with perforation AND with obstruction" EXACT []
synonym: "acute gastric ulcer without hemorrhage and without perforation" EXACT []
synonym: "acute gastric ulcer without hemorrhage, without perforation AND without obstruction" EXACT []
synonym: "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT []
synonym: "acute gastric ulcer with perforation" EXACT []
synonym: "acute gastric ulcer with perforation AND obstruction" EXACT []
synonym: "acute gastric ulcer with perforation, with obstruction" EXACT []
synonym: "bleeding acute gastric ulcer" EXACT []
synonym: "chronic gastric ulcer without hemorrhage AND without perforation" EXACT []
synonym: "chronic gastric ulcer without hemorrhage AND without perforation but with obstruction" EXACT []
synonym: "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction" EXACT []
synonym: "gastric ulcers" EXACT []
synonym: "Stomach Ulcer" EXACT []
synonym: "stomach ulcers" EXACT []
xref: EFO:0009454
xref: ICD10CM:K25
xref: ICD9CM:531
xref: MESH:D013276
xref: NCI:C3388
is_a: DOID:750 ! peptic ulcer disease

[Term]
id: DOID:1081
name: mansonelliasis
def: "A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. (DO)" [http://en.wikipedia.org/wiki/Mansonelliasis "DO"]
synonym: "Acanthocheilonema perstans Infection" EXACT []
synonym: "Acanthocheilonema perstans infections" EXACT []
synonym: "Dipetalonema perstans Infection" EXACT []
synonym: "Dipetalonema perstans Infections" EXACT []
synonym: "Mansonella perstans Infection" EXACT []
synonym: "Mansonella perstans Infections" EXACT []
synonym: "Mansonelliases" EXACT []
synonym: "Mansonelloses" EXACT []
synonym: "mansonellosis" EXACT []
xref: EFO:0007357
xref: GARD:8216
xref: ICD10CM:B74.4
xref: MESH:D008368
xref: NCI:C84882
is_a: DOID:1080 ! filariasis

[Term]
id: DOID:10810
name: tibialis tendinitis
xref: ICD9CM:726.72
is_a: DOID:971 ! tendinitis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:10811
name: nasal cavity cancer
def: "A respiratory system cancer that is located_in the nasal cavity. (DO)" [http://en.wikipedia.org/wiki/Nasal_cavity "DO"]
synonym: "malignant neoplasm of nasal cavities" EXACT []
synonym: "malignant tumor of the nasal cavity" EXACT []
xref: ICD10CM:C30.0
xref: ICD9CM:160.0
xref: NCI:C4918
xref: RDO:9002281
is_a: DOID:0050615 ! respiratory system cancer
is_a: DOID:2163 ! nasal cavity disease
is_a: DOID:9006040 ! Sinonasal Neoplasms
created_by: rgd
creation_date: 2017-09-26T00:00:00Z

[Term]
id: DOID:10812
name: nasal cavity olfactory neuroblastoma
synonym: "olfactory neuroblastoma of the nasal cavity" EXACT []
xref: NCI:C7604
is_a: DOID:10811 ! nasal cavity cancer
is_a: DOID:369 ! olfactory neuroblastoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10813
name: nasal cavity lymphoma
synonym: "lymphoma of nasal cavity" EXACT []
synonym: "lymphoma of the nasal cavity" EXACT []
xref: NCI:C6074
is_a: DOID:0060058 ! lymphoma
is_a: DOID:10811 ! nasal cavity cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:10816
name: duodenum adenocarcinoma
def: "A duodenum cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of duodenum" RELATED []
synonym: "duodenal adenocarcinoma" EXACT []
xref: EFO:1000223
xref: NCI:C7889
is_a: DOID:10021 ! duodenum cancer
is_a: DOID:4906 ! small intestine adenocarcinoma
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:10817
name: sexual sadism
def: "A condition in which there is a derivation of pleasure from inflicting pain, discomfort or humiliation on another person or persons. The sexual significance of sadistic wishes or behavior may be conscious or unconscious." [MESH:D012448]
synonym: "sadism" EXACT []
synonym: "sadisms" EXACT []
synonym: "sexual sadisms" EXACT []
xref: ICD10CM:F65.52
xref: ICD9CM:302.84
xref: MESH:D012448
xref: NCI:C94358
is_a: DOID:0060043 ! sexual health disorder
is_a: DOID:0060044 ! paraphilia disorder

[Term]
id: DOID:1082
name: dirofilariasis
def: "A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. (DO)" [https://en.wikipedia.org/wiki/Dirofilariasis "DO"]
synonym: "Dirofilaria infectious disease" EXACT []
synonym: "Dirofilariases" EXACT []
synonym: "Heartworm Disease" EXACT []
synonym: "infection by Dirofilaria" EXACT []
xref: EFO:0007239
xref: GARD:11908
xref: ICD10CM:B74.8
xref: MESH:D004184
is_a: DOID:1080 ! filariasis
is_a: DOID:850 ! lung disease
is_a: DOID:9006372 ! Animal Helminthiasis

[Term]
id: DOID:10823
name: malignant essential hypertension
synonym: "accelerated essential hypertension" EXACT []
xref: ICD9CM:401.0
xref: NCI:C34802
is_a: DOID:10824 ! malignant hypertension
is_a: DOID:10825 ! essential hypertension
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:10824
name: malignant hypertension
def: "A hypertension that is characterized by rapid onset of extremely high blood pressure. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3118 "DO"]
xref: EFO:1001031
xref: MESH:D006974
xref: NCI:C3118
is_a: DOID:10763 ! hypertension

[Term]
id: DOID:10825
name: essential hypertension
alt_id: MIM:145500
alt_id: MIM:603918
alt_id: MIM:604329
alt_id: MIM:607329
alt_id: MIM:608742
alt_id: MIM:610261
alt_id: MIM:610262
alt_id: MIM:610948
alt_id: MIM:611014
def: "A hypertension with no known cause. It is the most common type of hypertension. (DO)" [http://en.wikipedia.org/wiki/Essential_hypertension "DO", http://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html "DO"]
synonym: "EHT" EXACT []
synonym: "ESSENTIAL HYPERTENSION, GENETIC" NARROW []
synonym: "essential hypertension, susceptibility to" RELATED []
synonym: "essential hypertension, susceptibility to, 1" RELATED []
synonym: "essential hypertension, susceptibility to, 2" RELATED []
synonym: "essential hypertension, susceptibility to, 3" RELATED []
synonym: "essential hypertension, susceptibility to, 4" RELATED []
synonym: "essential hypertension, susceptibility to, 5" RELATED []
synonym: "essential hypertension, susceptibility to, 6" RELATED []
synonym: "essential hypertension, susceptibility to, 7" RELATED []
synonym: "essential hypertension, susceptibility to, 8" RELATED []
synonym: "GNB3 POLYMORPHISM" RELATED []
synonym: "HYPERTENSION, ESSENTIAL, BODY MASS-RELATED" NARROW []
synonym: "HYPERTENSION, ESSENTIAL, KIDNEY FUNCTION-RELATED" NARROW []
synonym: "Hypertension, salt-sensitive essential, susceptibility to" RELATED []
synonym: "HYT1" RELATED []
synonym: "HYT2" RELATED []
synonym: "HYT3" RELATED []
synonym: "HYT4" RELATED []
synonym: "HYT5" RELATED []
synonym: "HYT6" RELATED []
synonym: "HYT7" RELATED []
synonym: "HYT8" RELATED []
synonym: "idiopathic hypertension" EXACT []
synonym: "primary hypertension" EXACT []
xref: EFO:1002032
xref: ICD10CM:I10
xref: ICD9CM:401
xref: MESH:D000075222
xref: MONDO:0001134
xref: NCI:C3478
xref: ORDO:243761
is_a: DOID:10763 ! hypertension

[Term]
id: DOID:10834
name: voyeurism
def: "A paraphilia characterized by repetitive looking at unsuspecting people, usually strangers, who are either naked, in the act of disrobing, or engaging in sexual activity, as the method for achieving sexual excitement." [MESH:D014843]
synonym: "Voyeurisms" EXACT []
xref: ICD10CM:F65.3
xref: ICD9CM:302.82
xref: MESH:D014843
xref: NCI:C94360
is_a: DOID:0060044 ! paraphilia disorder

[Term]
id: DOID:10835
name: chylocele of tunica vaginalis
xref: ICD9CM:608.84
xref: RDO:9004645
is_a: DOID:48 ! male reproductive system disease
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:10841
name: Eastern equine encephalitis
def: "A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma. (DO)" [http://www.cdc.gov/EasternEquineEncephalitis/index.html "DO", http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO", http://www.ncagr.gov/vet/FactSheets/EEE.htm "DO"]
synonym: "Eastern Equine Encephalitides" EXACT []
synonym: "Eastern Equine Encephalomyelitides" EXACT []
synonym: "EEE" RELATED []
synonym: "neuroinvasive Eastern equine encephalitis virus infection" EXACT []
xref: EFO:0007242
xref: GARD:10821
xref: ICD10CM:A83.2
xref: ICD9CM:062.2
xref: MESH:D020242
is_a: DOID:9002578 ! Equine Encephalomyelitis
is_a: DOID:9008926 ! Arbovirus Encephalitis

[Term]
id: DOID:10842
name: Murray Valley encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13007862 "DO"]
synonym: "Australian encephalitis" EXACT []
synonym: "Australian X disease" EXACT []
xref: ICD10CM:A83.4
xref: ICD9CM:062.4
is_a: DOID:646 ! viral encephalitis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10843
name: Western equine encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. (DO)" [http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO"]
synonym: "WEE" RELATED []
xref: EFO:0007546
xref: GARD:7888
xref: ICD10CM:A83.1
xref: ICD9CM:062.1
xref: MESH:D020241
xref: NCI:C85227
is_a: DOID:9002578 ! Equine Encephalomyelitis

[Term]
id: DOID:10844
name: Japanese encephalitis
def: "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. (DO)" [http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO", http://www.cdc.gov/ncidod/dvbid/jencephalitis/qa.htm "DO"]
synonym: "Japanese B Encephalitis" EXACT []
synonym: "Japanese B Viral Encephalitis" EXACT []
xref: EFO:0007332
xref: GARD:6797
xref: ICD10CM:A83.0
xref: ICD9CM:062.0
xref: MESH:D004672
xref: NCI:C34577
is_a: DOID:9004146 ! Flavivirus Infections
is_a: DOID:9008926 ! Arbovirus Encephalitis

[Term]
id: DOID:10845
name: St. Louis encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. (DO)" [http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO", http://www.cdc.gov/ncidod/dvbid/sle/Sle_FactSheet.html "DO"]
synonym: "neuroinvasive St. Louis encephalitis virus infection" EXACT []
synonym: "Saint Louis Encephalitis" EXACT []
synonym: "St. Louis Meningoencephalitides" EXACT []
synonym: "St. Louis Meningoencephalitis" EXACT []
synonym: "St. Louis Viral Encephalitis" EXACT []
synonym: "Type C Lethargic Encephalitis" EXACT []
xref: EFO:0007495
xref: ICD10CM:A83.3
xref: ICD9CM:062.3
xref: MESH:D004674
is_a: DOID:9004146 ! Flavivirus Infections
is_a: DOID:9008926 ! Arbovirus Encephalitis

[Term]
id: DOID:10846
name: angiodysplasia of intestine
xref: ICD9CM:569.84
xref: RDO:9004387
is_a: DOID:2494 ! angiodysplasia
is_a: DOID:5295 ! intestinal disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:10849
name: sexual masochism
def: "Pleasure derived from being physically or psychologically abused, whether inflicted by oneself or by others. Masochism includes sexual masochism." [MESH:D008398]
synonym: "masochism" EXACT []
synonym: "masochisms" EXACT []
synonym: "sexual masochisms" EXACT []
xref: ICD10CM:F65.51
xref: ICD9CM:302.83
xref: MESH:D008398
xref: NCI:C94356
is_a: DOID:0060043 ! sexual health disorder
is_a: DOID:0060044 ! paraphilia disorder

[Term]
id: DOID:1085
name: Edwards syndrome
def: "A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18. (DO)" [https://ghr.nlm.nih.gov/condition/trisomy-18 "DO"]
synonym: "complete trisomy 18 syndrome" EXACT []
synonym: "E3 trisomy" EXACT []
synonym: "mosaic trisomy 18 syndrome" EXACT []
synonym: "trisomy 18" EXACT []
synonym: "trisomy 18 syndrome" EXACT []
synonym: "trisomy E syndrome" EXACT []
xref: ICD9CM:758.2
xref: MESH:D000073842
xref: NCI:C101362
xref: NCI:C36626
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:10852
name: middle ear cholesterol granuloma
def: "A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum. (DO)" [http://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/16354369 "DO"]
synonym: "cholesterin granuloma" EXACT []
synonym: "cholesterin granuloma of middle ear" EXACT []
xref: NCI:C3655
is_a: DOID:10754 ! otitis media
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:10854
name: salivary gland disease
def: "A mouth disease located_in the salivary gland. (DO)" [https://www.cedars-sinai.org/health-library/diseases-and-conditions/s/salivary-gland-disease-and-tumors.html "DO"]
synonym: "non-neoplastic salivary gland disease" EXACT []
synonym: "salivary gland diseases" EXACT []
xref: EFO:0008581
xref: ICD9CM:527.8
xref: MESH:D012466
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:10863
name: paralytic squint
synonym: "Incomitant dissociation" EXACT [SNOMEDCT_2005_07_31:155195008]
synonym: "Paralytic strabismus" EXACT [ICD9CM_2006:378.5]
xref: EFO:0009678
xref: ICD10CM:H49
xref: ICD9CM:378.5
xref: RDO:9003352
is_a: DOID:540 ! strabismus
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:10864
name: partial third-nerve palsy
synonym: "partial third-nerve palsies" EXACT []
synonym: "Third nerve palsy with pupil sparing" EXACT [SNOMEDCT_2005_07_31:194118007]
synonym: "Third or oculomotor nerve palsy, partial" EXACT [ICD9CM_2006:378.51]
xref: ICD9CM:378.51
is_a: DOID:10863 ! paralytic squint
is_a: DOID:562 ! third cranial nerve disease

[Term]
id: DOID:10865
name: abducens nerve palsy
alt_id: DOID:9002293
def: "A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35356946/ "DO", https://www.aapos.org/glossary/sixth-nerve-palsy "DO", https://www.ncbi.nlm.nih.gov/books/NBK482177/ "DO"]
synonym: "6th Nerve Palsies" EXACT []
synonym: "6th Nerve Palsy" EXACT []
synonym: "abducens nerve disease" EXACT []
synonym: "Abducens Nerve Diseases" EXACT []
synonym: "abducens nerve disorder" EXACT []
synonym: "Abducens Nerve Palsies" EXACT []
synonym: "abducens nerve weakness" EXACT []
synonym: "Abducens Palsy" EXACT []
synonym: "Abducens Palsy, Childhood, Benign Recurrent" EXACT []
synonym: "Benign Recurrent Abducens Palsy, Children" EXACT []
synonym: "Benign Recurrent Abducens Palsy of Childhood" EXACT []
synonym: "Cranial Nerve VI Diseases" EXACT []
synonym: "Cranial Nerve VI Palsy" EXACT []
synonym: "disorder of abducent nerve" EXACT []
synonym: "Lateral rectus muscle denervation paresis" EXACT []
synonym: "lateral rectus muscle innervation disorder" EXACT []
synonym: "Lateral Rectus Palsies" EXACT []
synonym: "Lateral Rectus Palsy" EXACT []
synonym: "Nerve Palsies, VI" EXACT []
synonym: "Sixth Cranial Nerve Diseases" EXACT []
synonym: "sixth cranial nerve disorder" EXACT []
synonym: "Sixth Cranial Nerve Disorders" EXACT []
synonym: "Sixth Cranial Nerve Palsy" EXACT []
synonym: "Sixth Nerve Palsies" EXACT []
synonym: "Sixth Nerve Palsy" EXACT []
synonym: "VI Nerve Palsy" EXACT []
synonym: "VIth Cranial Nerve Diseases" EXACT []
synonym: "VIth nerve disorder" EXACT []
synonym: "VIth nerve paralysis" EXACT []
xref: GARD:9482
xref: MESH:D020434
xref: MIM:100200
xref: NCI:C27592
xref: NCI:C27593
is_a: DOID:3817 ! cranial nerve palsy

[Term]
id: DOID:10866
name: total third-nerve palsy
synonym: "Third nerve palsy with pupil involved" EXACT [SNOMEDCT_2005_07_31:194119004]
synonym: "Third or oculomotor nerve palsy, total" EXACT [ICD9CM_2006:378.52]
synonym: "total oculomotor nerve palsy" EXACT []
synonym: "total third-nerve palsies" EXACT []
xref: ICD9CM:378.52
is_a: DOID:10863 ! paralytic squint
is_a: DOID:562 ! third cranial nerve disease

[Term]
id: DOID:10869
name: fourth cranial nerve palsy
alt_id: MIM:136480
synonym: "familial congenital fourth cranial nerve palsy" EXACT []
synonym: "familial congenital trochlear nerve palsy" EXACT []
synonym: "fourth nerve palsies" EXACT []
synonym: "fourth nerve palsy" EXACT []
synonym: "fourth or trochlear nerve palsy" EXACT []
synonym: "Strabismus from Superior Oblique Palsy" EXACT []
synonym: "Superior Oblique Oculomotor Palsy, Familial Congenital" EXACT []
synonym: "trochlear nerve palsies" EXACT []
synonym: "trochlear nerve palsy" EXACT []
xref: MESH:C565007
is_a: DOID:10863 ! paralytic squint
is_a: DOID:13864 ! trochlear nerve disease
is_a: DOID:3817 ! cranial nerve palsy

[Term]
id: DOID:10871
name: age related macular degeneration
def: "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. (DO)" [http://en.wikipedia.org/wiki/Macular_degeneration "DO"]
synonym: "age related maculopathies" EXACT []
synonym: "age related maculopathy" EXACT []
synonym: "senile macular degeneration" EXACT []
synonym: "senile macular retinal degeneration" EXACT []
xref: EFO:0001365
xref: ICD10CM:H35.30
xref: ICD9CM:362.50
xref: MIM:PS603075
xref: NCI:C84391
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2007 ! degeneration of macula and posterior pole
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:10873
name: Kuhnt-Junius degeneration
def: "A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." [MESH:D057135]
synonym: "exudative age-related macular degeneration" EXACT []
synonym: "Exudative Macular Degeneration" EXACT []
synonym: "Exudative senile macular degeneration of retina" EXACT [ICD9CM_2006:362.52]
synonym: "Neovascular Age-Related Macular Degeneration" EXACT []
synonym: "Senile macular degeneration, wet" EXACT [MTHICD9_2006:362.52]
synonym: "Wet Macular Degeneration" EXACT []
synonym: "Wet Macular Degenerations" EXACT []
synonym: "Wet senile macular retinal degeneration" EXACT [SNOMEDCT_2005_07_31:16018000]
xref: EFO:0004683
xref: ICD10CM:H35.32
xref: ICD9CM:362.52
xref: MESH:D057135
xref: RDO:0007784
is_a: DOID:2007 ! degeneration of macula and posterior pole
is_a: DOID:4448 ! macular degeneration

[Term]
id: DOID:1088
name: meningocele
def: "A spina bifida that is characterized by herniation of the meninges between the vertebrae. (DO)" [https://en.wikipedia.org/wiki/Spina_bifida#Meningocele "DO"]
synonym: "Acquired Meningocele" EXACT []
synonym: "acquired meningoceles" EXACT []
synonym: "herniation of meninges" EXACT []
synonym: "Meningeal Herniation" EXACT []
synonym: "meningeal herniations" EXACT []
synonym: "Meninges Herniation" EXACT []
synonym: "meninges herniations" EXACT []
synonym: "Meningoceles" EXACT []
synonym: "rudimentary meningocele" EXACT []
synonym: "rudimentary meningoceles" EXACT []
synonym: "traumatic meningocele" EXACT []
synonym: "traumatic meningoceles" EXACT []
xref: MESH:D008588
is_a: DOID:0080016 ! spina bifida
is_a: DOID:1283 ! enterocele

[Term]
id: DOID:10880
name: iliac vein thrombophlebitis
synonym: "phlebitis and thrombophlebitis of the iliac vein" EXACT []
xref: ICD10CM:I80.21
xref: ICD9CM:451.81
is_a: DOID:3875 ! thrombophlebitis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:10881
name: hand, foot and mouth disease
def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. (DO)" [http://www.cdc.gov/ncidod/dvrd/revb/enterovirus/hfhf.htm "DO"]
synonym: "Hand, Foot, Mouth Disease" EXACT []
synonym: "vesicular stomatitis and exanthem" EXACT []
xref: EFO:0007294
xref: ICD10CM:B08.4
xref: ICD9CM:074.3
xref: MESH:D006232
xref: NCI:C128439
is_a: DOID:9000220 ! Coxsackievirus Infections
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:10882
name: epidemic pleurodynia
def: "A viral infectious disease that results in necrosis located in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache. (DO)" [https://www.merckmanuals.com/professional/infectious-diseases/enteroviruses/epidemic-pleurodynia "DO"]
synonym: "Bamble disease" EXACT []
synonym: "Bornholm Disease" EXACT []
synonym: "devil's grip" EXACT []
synonym: "Epidemic Myalgia" EXACT []
synonym: "Epidemic Myalgias" EXACT []
synonym: "epidemic myositis" EXACT []
synonym: "epidemic pleurisy" EXACT []
synonym: "Epidemic Pleurodynias" EXACT []
xref: EFO:0007259
xref: ICD10CM:B33.0
xref: ICD9CM:074.1
xref: MESH:D011000
is_a: DOID:66 ! muscle tissue disease
is_a: DOID:9000220 ! Coxsackievirus Infections

[Term]
id: DOID:10883
name: herpangina
def: "A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. (DO)" [http://en.wikipedia.org/wiki/Herpangina "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000969.htm "DO"]
synonym: "herpanginas" EXACT []
synonym: "vesicular pharyngitis" EXACT []
xref: EFO:0007306
xref: ICD10CM:B08.5
xref: ICD9CM:074.0
xref: MESH:D006557
is_a: DOID:10456 ! tonsillitis
is_a: DOID:403 ! mouth disease
is_a: DOID:9000220 ! Coxsackievirus Infections
is_a: DOID:9006823 ! Echovirus Infections

[Term]
id: DOID:10887
name: lepromatous leprosy
def: "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. (DO)" [https://www.amjmed.com/article/S0002-9343(17)30612-5/fulltext "DO"]
synonym: "cutaneous leprosies" EXACT []
synonym: "Cutaneous Leprosy" EXACT []
synonym: "lepromatous leprosies" EXACT []
synonym: "nodular leprosies" EXACT []
synonym: "nodular leprosy" EXACT []
synonym: "type L leprosy" EXACT []
xref: EFO:0001057
xref: ICD10CM:A30.5
xref: ICD9CM:030.0
xref: MESH:D015440
is_a: DOID:1024 ! leprosy
is_a: DOID:9005723 ! Multibacillary Leprosy

[Term]
id: DOID:1089
name: tethered spinal cord syndrome
synonym: "occult spinal dysraphism" EXACT []
synonym: "occult spinal dysraphisms" EXACT []
synonym: "occult spinal dysraphism sequence" EXACT []
synonym: "tethered cord syndrome" EXACT []
synonym: "tethered cord syndromes" EXACT []
xref: EFO:1001210
xref: GARD:4018
xref: NCI:C99080
is_a: DOID:0080073 ! spina bifida occulta
is_a: DOID:225 ! syndrome
is_a: DOID:319 ! spinal cord disease
created_by: rgd
creation_date: 2017-12-11T00:00:00Z

[Term]
id: DOID:10892
name: hypospadias
def: "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. (DO)" [http://en.wikipedia.org/wiki/Hypospadias "DO", http://ghr.nlm.nih.gov/glossary=hypospadias "DO"]
synonym: "familial hypospadias" EXACT []
synonym: "hypospadia" EXACT []
xref: EFO:0004209
xref: ICD10CM:Q54
xref: MESH:D007021
xref: MIM:PS300633
xref: NCI:C40341
xref: ORDO:440
is_a: DOID:0080015 ! physical disorder
is_a: DOID:1529 ! penile disease
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:10907
name: microcephaly
def: "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. (DO)" [https://en.wikipedia.org/wiki/Microcephaly "DO"]
synonym: "Classical primary microcephaly" NARROW []
synonym: "Congenital microcephaly" EXACT []
synonym: "Microcephalies" EXACT []
synonym: "microcephalus" EXACT []
synonym: "microencephaly" EXACT []
synonym: "PRIMARY MICROCEPHALY, RECESSIVE" NARROW []
synonym: "PROGRESSIVE MICROCEPHALY" NARROW []
synonym: "Severe Congenital Microcephalies" EXACT []
synonym: "Severe Congenital Microcephaly" EXACT []
xref: GARD:3603
xref: GARD:7038
xref: ICD10CM:Q02
xref: ICD9CM:742.1
xref: MESH:D008831
xref: NCI:C85874
is_a: DOID:2490 ! congenital nervous system abnormality
is_a: DOID:9005611 ! Malformations of Cortical Development, Group I
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:10908
name: hydrocephalus
alt_id: MIM:236600
alt_id: MIM:236635
def: "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. (DO)" [http://en.wikipedia.org/wiki/Hydrocephalus "DO", http://ghr.nlm.nih.gov/glossary=hydrocephalus "DO", http://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956 "DO"]
synonym: "aqueductal stenoses" EXACT []
synonym: "aqueductal stenosis" EXACT []
synonym: "CCDC88C-RELATED CONDITION" BROAD []
synonym: "cerebral ventriculomegalies" EXACT []
synonym: "Cerebral Ventriculomegaly" EXACT []
synonym: "Congenital Hydrocephalus" EXACT []
synonym: "fetal cerebral ventriculomegalies" EXACT []
synonym: "fetal cerebral ventriculomegaly" EXACT []
synonym: "HYC1" EXACT []
synonym: "hydrocephalus ex vacuo" EXACT []
synonym: "hydrocephalus ex-vacuos" EXACT []
synonym: "hydrocephalus, X-linked" EXACT []
synonym: "hydrocephaly" EXACT []
synonym: "nonsyndromic hydrocephalus, autosomal recessive" EXACT [OMIM:236600]
synonym: "nonsyndromic hydrocephalus, autosomal recessive 1" EXACT []
synonym: "post traumatic hydrocephalus" EXACT []
synonym: "SEVERE HYDROCEPHALUS" NARROW []
synonym: "ventriculomegaly" EXACT []
xref: GARD:6682
xref: ICD10CM:G91
xref: MESH:D006849
xref: MIM:PS236600
xref: NCI:C3111
xref: NCI:C98876
xref: ORDO:2182
xref: ORDO:2185
is_a: DOID:1443 ! cerebral degeneration

[Term]
id: DOID:1091
name: tooth disease
def: "A mouth disease located_in the teeth. (DO)" [https://medlineplus.gov/toothdisorders.html "DO"]
synonym: "teeth disease" EXACT []
synonym: "tooth diseases" EXACT []
xref: EFO:1001216
xref: MESH:D014076
is_a: DOID:403 ! mouth disease
is_a: DOID:9001349 ! Stomatognathic Diseases

[Term]
id: DOID:10913
name: benign essential hypertension
xref: ICD9CM:401.1
xref: NCI:C3656
is_a: DOID:10825 ! essential hypertension
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:10914
name: amnestic disorder
def: "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. (DO)" [http://en.wikipedia.org/wiki/Amnesia "DO", http://www.minddisorders.com/A-Br/Amnestic-disorders.html "DO"]
synonym: "amnesia" EXACT []
synonym: "Amnesia Memory Loss" EXACT []
synonym: "amnesias" EXACT []
synonym: "Amnestic State" EXACT []
synonym: "amnestic states" EXACT []
synonym: "amnestic syndrome" EXACT []
synonym: "Global Amnesia" EXACT []
synonym: "global amnesias" EXACT []
synonym: "Hysterical Amnesia" EXACT []
synonym: "Hysterical Amnesias" EXACT []
synonym: "Korsakoff's psychosis or syndrome" EXACT []
synonym: "Tactile Amnesia" EXACT []
synonym: "Tactile Amnesias" EXACT []
synonym: "temporary amnesia" EXACT []
synonym: "temporary amnesias" EXACT []
xref: EFO:1001454
xref: ICD10CM:R41.3
xref: ICD9CM:294.0
xref: MESH:D000647
xref: NCI:C2867
is_a: DOID:1561 ! cognitive disorder
is_a: DOID:9008023 ! Memory Disorders

[Term]
id: DOID:10915
name: Wernicke-Korsakoff syndrome
alt_id: MIM:277730
def: "A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency. (DO)" [https://en.wikipedia.org/wiki/Wernicke%E2%80%93Korsakoff_syndrome "DO"]
synonym: "ALCOHOL-INDUCED ENCEPHALOPATHY" EXACT []
synonym: "Korsakoff's psychosis" EXACT []
synonym: "Korsakoff's syndrome" EXACT []
synonym: "Korsakoff psychoses" EXACT []
synonym: "Korsakoff Psychosis" EXACT []
synonym: "Korsakoff syndrome" EXACT []
synonym: "Korsakov's psychosis" EXACT []
synonym: "Korsakov psychosis" EXACT []
synonym: "transketolase defect" EXACT []
synonym: "Wernicke-Korsakoff syndromes" EXACT []
xref: EFO:1001242
xref: MESH:D020915
xref: NCI:C35764
xref: NCI:C84803
is_a: DOID:0070313 ! thiamine deficiency disease
is_a: DOID:9008023 ! Memory Disorders
is_a: DOID:9008602 ! Alcohol Amnestic Disorder

[Term]
id: DOID:10921
name: Siberian tick typhus
def: "A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. (DO)" [http://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"]
synonym: "manchurian typhus" EXACT []
synonym: "North Asian tick fever" EXACT []
synonym: "North Asian tick typhus" EXACT []
synonym: "Rickettsia sibirica spotted fever" EXACT []
xref: ICD10CM:A77.2
xref: ICD9CM:082.2
is_a: DOID:11104 ! spotted fever
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:10923
name: sickle cell anemia
def: "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain. (DO)" [https://en.wikipedia.org/wiki/Sickle_cell_disease "DO", https://ghr.nlm.nih.gov/condition/sickle-cell-disease "DO", https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease "DO"]
synonym: "drepanocytosis" EXACT []
synonym: "haemoglobin SC disease" EXACT []
synonym: "HbS disease" EXACT []
synonym: "HbSS disease" EXACT []
synonym: "Hb-SS disease without crisis" EXACT []
synonym: "hemoglobin Chori" RELATED []
synonym: "HEMOGLOBIN D (IRAN)" RELATED []
synonym: "HEMOGLOBIN KORLE-BU" RELATED []
synonym: "Hemoglobin Quebec-Chori" RELATED []
synonym: "HEMOGLOBIN ROCKFORD" RELATED []
synonym: "hemoglobin S disease" EXACT []
synonym: "hemoglobin S diseases" EXACT []
synonym: "hemoglobin S disease without crisis" EXACT []
synonym: "homozygous sickle cell disease" EXACT []
synonym: "sickle-cell/Hb-C disease without crisis" EXACT []
synonym: "sickle cell anaemia" EXACT []
synonym: "sickle cell anemias" EXACT []
synonym: "sickle cell disease" EXACT []
synonym: "sickle cell diseases" EXACT []
synonym: "sickle cell disorder" EXACT []
synonym: "sickle cell disorders" EXACT []
synonym: "sickling disorder due to hemoglobin S" EXACT []
xref: EFO:0000697
xref: GARD:8614
xref: ICD10CM:D57.1
xref: ICD10CM:D57.2
xref: ICD9CM:282.6
xref: ICD9CM:282.63
xref: MESH:D000755
xref: MONDO:0011382
xref: NCI:C34383
xref: NCI:C34676
xref: ORDO:232
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081445 ! sickle cell disease
is_a: DOID:2860 ! hemoglobinopathy
is_a: DOID:589 ! congenital hemolytic anemia

[Term]
id: DOID:10927
name: gastrojejunal ulcer
synonym: "acute gastrojejunal ulcer with hemorrhage" EXACT []
synonym: "acute gastrojejunal ulcer with hemorrhage AND obstruction" EXACT []
synonym: "acute gastrojejunal ulcer with hemorrhage AND perforation" EXACT []
synonym: "acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction" EXACT []
synonym: "acute gastrojejunal ulcer, with hemorrhage, with obstruction" EXACT []
synonym: "acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction" EXACT []
synonym: "acute gastrojejunal ulcer without hemorrhage AND without perforation" EXACT []
synonym: "acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT []
synonym: "acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT []
synonym: "acute gastrojejunal ulcer with perforation" EXACT []
synonym: "acute gastrojejunal ulcer with perforation AND obstruction" EXACT []
synonym: "acute gastrojejunal ulcer with perforation, with obstruction" EXACT []
synonym: "chronic gastrojejunal ulcer without hemorrhage AND without perforation" EXACT []
synonym: "chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT []
synonym: "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT []
xref: ICD10CM:K28.0
xref: ICD9CM:534.0
is_a: DOID:750 ! peptic ulcer disease
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:10930
name: borderline personality disorder
def: "A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. (DO)" [http://en.wikipedia.org/wiki/Borderline_personality_disorder "DO"]
synonym: "Borderline Personality Disorders" EXACT []
xref: EFO:0005429
xref: ICD10CM:F60.3
xref: ICD9CM:301.83
xref: MESH:D001883
xref: NCI:C92633
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:10931
name: dependent personality disorder
def: "A personality disorder that is characterized by a pervasive psychological dependence on other people. (DO)" [http://en.wikipedia.org/wiki/Dependent_personality_disorder "DO"]
synonym: "dependent personality disorders" EXACT []
synonym: "passive dependent personality" EXACT []
xref: ICD10CM:F60.7
xref: ICD9CM:301.6
xref: MESH:D003859
xref: NCI:C92637
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:10932
name: obsessive-compulsive personality disorder
def: "A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. (DO)" [http://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder "DO"]
synonym: "Anankastic personality disorder" RELATED [SNOMEDCT_2005_07_31:191762008]
synonym: "compulsive personalities" EXACT []
synonym: "Compulsive Personality" EXACT []
synonym: "compulsive personality disorder" EXACT []
synonym: "Compulsive Personality Disorders" EXACT []
synonym: "obsessional personality" RELATED []
synonym: "Obsessive-Compulsive Personalities" EXACT []
synonym: "obsessive-compulsive personality" EXACT []
synonym: "OCPD" EXACT []
xref: ICD10CM:F60.5
xref: ICD9CM:301.4
xref: MESH:D003193
xref: NCI:C92638
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:10933
name: obsessive-compulsive disorder
alt_id: MIM:164230
def: "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). (DO)" [https://www.nimh.nih.gov/health/topics/obsessive-compulsive-disorder-ocd/index.shtml "DO"]
synonym: "anancastic neurosis" EXACT []
synonym: "anankastic personalities" EXACT []
synonym: "anankastic personality" EXACT []
synonym: "increased/decreased serotonin transporter activity" RELATED []
synonym: "obsessive-compulsive disorder, protection against" RELATED []
synonym: "Obsessive-Compulsive Disorders" EXACT []
synonym: "obsessive-compulsive disorder, susceptibility to" RELATED []
synonym: "obsessive-compulsive neuroses" EXACT []
synonym: "obsessive-compulsive neurosis" EXACT []
synonym: "OCD" EXACT []
xref: EFO:0004242
xref: ICD10CM:F42
xref: ICD9CM:300.3
xref: MESH:D009771
xref: NCI:C88411
is_a: DOID:2030 ! anxiety disorder

[Term]
id: DOID:10934
name: multiple personality disorder
def: "A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. (DO)" [http://en.wikipedia.org/wiki/Dissociative_identity_disorder "DO"]
synonym: "Dissociative Identity Disorder" EXACT []
synonym: "dual personalities" EXACT []
synonym: "Dual Personality" EXACT []
synonym: "Multiple Identity Disorder" EXACT []
synonym: "multiple identity disorders" EXACT []
synonym: "Multiple Personalities" EXACT []
synonym: "Multiple Personality" EXACT []
synonym: "Multiple Personality Disorders" EXACT []
xref: ICD10CM:F44.81
xref: ICD9CM:300.14
xref: MESH:D009105
xref: NCI:C94330
is_a: DOID:10935 ! dissociative disorder

[Term]
id: DOID:10935
name: dissociative disorder
def: "A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). (DO)" [https://www.mayoclinic.org/diseases-conditions/dissociative-disorders/symptoms-causes/syc-20355215 "DO"]
synonym: "dissociation" EXACT []
synonym: "dissociative disease" EXACT []
synonym: "dissociative disorders" EXACT []
synonym: "Dissociative Hysteria" EXACT []
synonym: "dissociative hysterias" EXACT []
synonym: "Dissociative Reaction" EXACT []
synonym: "dissociative reactions" EXACT []
synonym: "fugue" EXACT []
xref: ICD10CM:F44.9
xref: ICD9CM:300.15
xref: ICD9CM:300.9
xref: MESH:D004213
xref: NCI:C92197
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:10936
name: schizoid personality disorder
def: "A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. (DO)" [http://en.wikipedia.org/wiki/Schizoid_personality_disorder "DO"]
synonym: "schizoid personalities" EXACT []
synonym: "Schizoid Personality" EXACT []
synonym: "schizoid personality disorders" EXACT []
xref: ICD10CM:F60.1
xref: ICD9CM:301.2
xref: MESH:D012557
xref: NCI:C92631
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:10937
name: impulse control disorder
def: "A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. (DO)" [https://en.wikipedia.org/wiki/Impulse_control_disorder "DO"]
synonym: "disruptive, impulse control, and conduct disorders" EXACT []
xref: ICD10CM:F63.9
xref: ICD9CM:312.30
xref: MESH:D007174
xref: MONDO:0001162
xref: NCI:C34723
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:10938
name: paranoid personality disorder
def: "A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. (DO)" [http://en.wikipedia.org/wiki/Paranoid_personality_disorder "DO"]
synonym: "paranoid personalities" EXACT []
synonym: "paranoid personality" EXACT []
synonym: "paranoid personality disorders" EXACT []
xref: ICD10CM:F60.0
xref: ICD9CM:301.0
xref: MESH:D010260
xref: NCI:C92630
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:10939
name: antisocial personality disorder
def: "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. (DO)" [http://en.wikipedia.org/wiki/Antisocial_personality_disorder "DO"]
synonym: "antisocial behavior" EXACT []
synonym: "Antisocial Behavior Following Childhood Maltreatment, Susceptibility To" EXACT []
synonym: "Antisocial Personalities" EXACT []
synonym: "Antisocial Personality" EXACT []
synonym: "Antisocial Personality Disorders" EXACT []
synonym: "asocial personality" EXACT []
synonym: "dissocial personality disorder" EXACT []
synonym: "Dyssocial Behavior" EXACT []
synonym: "Dyssocial Behaviors" EXACT []
synonym: "psychopath.personality" EXACT []
synonym: "Psychopathic Personalities" EXACT []
synonym: "Psychopathic Personality" EXACT []
synonym: "psychopathic personality disorder" EXACT []
synonym: "Sociopathic Personalities" EXACT []
synonym: "Sociopathic Personality" EXACT []
xref: EFO:0004890
xref: ICD10CM:F60.2
xref: ICD9CM:301.7
xref: MESH:D000987
xref: NCI:C88413
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:1094
name: attention deficit hyperactivity disorder
alt_id: MIM:143465
alt_id: MIM:608903
alt_id: MIM:608904
alt_id: MIM:608905
alt_id: MIM:608906
alt_id: MIM:612311
alt_id: MIM:612312
def: "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. (DO)" [http://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder "DO", https://www.genome.gov/Genetic-Disorders/Attention-Deficit-Hyperactivity-Disorder "DO"]
synonym: "ADDH" EXACT []
synonym: "ADHD" EXACT []
synonym: "ADHD1" RELATED []
synonym: "ADHD2" RELATED []
synonym: "ADHD3" RELATED []
synonym: "ADHD4" RELATED []
synonym: "ADHD5" RELATED []
synonym: "ADHD6" RELATED []
synonym: "attention deficit disorder" EXACT []
synonym: "attention deficit disorders" EXACT []
synonym: "Attention Deficit Disorders with Hyperactivity" EXACT []
synonym: "Attention Deficit Disorder with Hyperactivity" EXACT []
synonym: "attention deficit hyperactivity disorders" EXACT []
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 1" RELATED []
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 2" RELATED []
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 3" RELATED []
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 4" RELATED []
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 5" RELATED []
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 6" RELATED []
synonym: "hyperactivity disorder" NARROW []
synonym: "hyperactivity of childhood" EXACT []
synonym: "hyperkinetic disorder" EXACT []
synonym: "hyperkinetic syndrome" EXACT []
synonym: "minimal brain dysfunction" EXACT []
synonym: "tryptophan 5-monooxygenase deficiency" NARROW []
xref: EFO:0003888
xref: MESH:D001289
xref: NCI:C35092
xref: NCI:C97160
is_a: DOID:9009161 ! Attention Deficit and Disruptive Behavior Disorders

[Term]
id: DOID:10941
name: intracranial aneurysm
def: "Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)" [MESH:D002532]
synonym: "Anterior Cerebral Artery Aneurysm" EXACT []
synonym: "Anterior Communicating Artery Aneurysm" EXACT []
synonym: "Basilar Artery Aneurysm" EXACT []
synonym: "basilar artery aneurysms" EXACT []
synonym: "Berry Aneurysm" EXACT []
synonym: "Berry Aneurysms" EXACT []
synonym: "Brain Aneurysm" EXACT []
synonym: "Brain Aneurysms" EXACT []
synonym: "Cerebral Aneurysm" EXACT []
synonym: "Cerebral Aneurysms" EXACT []
synonym: "Giant Intracranial Aneurysm" EXACT []
synonym: "Giant Intracranial Aneurysms" EXACT []
synonym: "Intracranial Aneurysms" EXACT []
synonym: "Intracranial Mycotic Aneurysm" EXACT []
synonym: "Intracranial Mycotic Aneurysms" EXACT []
synonym: "Middle Cerebral Artery Aneurysm" EXACT []
synonym: "Posterior Cerebral Artery Aneurysm" EXACT []
synonym: "posterior communicating artery aneurysm" EXACT []
xref: EFO:0003870
xref: MESH:D002532
xref: NCI:C34458
is_a: DOID:13089 ! intracranial arterial disease
is_a: DOID:3527 ! cerebral arterial disease
is_a: DOID:9001665 ! Aneurysm

[Term]
id: DOID:10944
name: tongue disease
def: "A mouth disease located_in the tongue. (DO)" [https://medlineplus.gov/tonguedisorders.html "DO"]
synonym: "microglossia" EXACT []
synonym: "microglossias" EXACT []
synonym: "Tongue Diseases" EXACT []
xref: ICD10CM:K14
xref: ICD9CM:529.9
xref: MESH:D014060
xref: NCI:C173793
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:10952
name: nephritis
def: "A kidney disease that is characterized by an inflammation of the kidneys. (DO)" [https://en.wikipedia.org/wiki/Nephritis "DO"]
synonym: "nephritides" EXACT []
xref: EFO:1002050
xref: ICD10CM:N05
xref: MESH:D009393
xref: NCI:C26833
is_a: DOID:557 ! kidney disease
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:10955
name: strongyloidiasis
def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. (DO)" [http://en.wikipedia.org/wiki/Strongyloidiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm "DO"]
synonym: "anguilluliases" EXACT []
synonym: "anguilluliasis" EXACT []
synonym: "disseminated strongyloidiasis" EXACT []
synonym: "infection by strongyloides" EXACT []
synonym: "strongyloidiases" EXACT []
xref: EFO:0007501
xref: GARD:8195
xref: ICD10CM:B78
xref: ICD9CM:127.2
xref: MESH:D013322
xref: NCI:C128398
is_a: DOID:9000928 ! Central Nervous System Helminthiasis
is_a: DOID:9001455 ! Intestinal Helminthiasis
is_a: DOID:9003369 ! Strongylida Infections
is_a: DOID:9003947 ! Parasitic Lung Diseases
is_a: DOID:9007630 ! Parasitic Skin Diseases

[Term]
id: DOID:10963
name: cholesteatoma of attic
xref: EFO:1000676
xref: ICD10CM:H71.0
xref: ICD9CM:385.31
xref: RDO:9003800
is_a: DOID:10964 ! cholesteatoma of middle ear
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:10964
name: cholesteatoma of middle ear
def: "A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR." [MESH:D018424]
synonym: "aural cholesteatoma" EXACT []
synonym: "aural cholesteatomas" EXACT []
synonym: "cholesteatoma of middle ear and/or mastoid" EXACT []
synonym: "cholesteatoma of middle ear and mastoid" EXACT []
synonym: "cholesteatoma of the middle ear" EXACT []
synonym: "epidermosis of ear" EXACT []
synonym: "epidermosis of middle ear" EXACT []
synonym: "middle ear cholesteatoma" EXACT []
synonym: "middle ear cholesteatomas" EXACT []
xref: EFO:1000678
xref: ICD10CM:H71
xref: ICD9CM:385.3
xref: ICD9CM:385.32
xref: MESH:D018424
xref: NCI:C3654
is_a: DOID:5100 ! middle ear disease
is_a: DOID:869 ! cholesteatoma

[Term]
id: DOID:10965
name: spastic diplegia
def: "A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. (DO)" [https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy "DO"]
synonym: "cerebral spastic infantile paralysis" EXACT []
synonym: "infantile diplegic cerebral palsy" EXACT []
synonym: "infantile spastic cerebral palsy" EXACT []
synonym: "Little's disease" EXACT []
synonym: "Littles disease" EXACT []
synonym: "spastic diplegias" EXACT []
synonym: "spastic diplegic cerebral palsy" EXACT []
xref: ICD10CM:G80.1
xref: ICD9CM:343.0
xref: NCI:C34781
is_a: DOID:0050669 ! spastic cerebral palsy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:10966
name: lipoid nephrosis
def: "A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA." [MESH:D009402]
synonym: "Glomerulopathies, Minimal Change" EXACT []
synonym: "Idiopathic Minimal Change Nephrotic Syndrome" EXACT []
synonym: "Lipoid Nephroses" EXACT []
synonym: "Minimal Change Disease" EXACT []
synonym: "Minimal Change Diseases" EXACT []
synonym: "Minimal Change Glomerulonephritides" EXACT []
synonym: "Minimal Change Glomerulonephritis" EXACT []
synonym: "Minimal Change Glomerulopathy" EXACT []
synonym: "Minimal Change Nephropathies" EXACT []
synonym: "Minimal Change Nephropathy" EXACT []
synonym: "Minimal Change Nephrotic Syndrome" EXACT []
synonym: "nephrotic syndrome with lesion of minimal change glomerulonephritis" EXACT []
synonym: "nephrotic syndrome with lesion of minimal change nephrotic syndrome" EXACT []
xref: EFO:1001020
xref: MESH:D009402
xref: NCI:C34844
xref: NCI:C35540
is_a: DOID:1184 ! nephrotic syndrome
is_a: DOID:2527 ! nephrosis
is_a: DOID:2921 ! glomerulonephritis

[Term]
id: DOID:10967
name: spastic hemiplegia
def: "A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. (DO)" [https://www.cerebralpalsyguide.com/cerebral-palsy/types/spastic/ "DO"]
synonym: "congenital hemiplegia" EXACT []
synonym: "hemiplegic cerebral palsy" EXACT []
synonym: "hemiplegic infantile cerebral palsy" EXACT []
synonym: "spastic hemiplegic cerebral palsy" EXACT []
xref: GARD:10448
xref: ICD9CM:343.1
is_a: DOID:0050669 ! spastic cerebral palsy
is_a: DOID:10969 ! hemiplegia
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:10968
name: spastic monoplegia
def: "A spastic cerebral palsy that affects only one limb. (DO)" [http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic "DO"]
synonym: "monoplegic cerebral palsies" EXACT []
synonym: "monoplegic cerebral palsy" EXACT []
synonym: "monoplegic infantile cerebral palsy" EXACT []
synonym: "spastic monoplegic cerebral palsy" EXACT []
xref: GARD:10446
xref: ICD9CM:343.3
is_a: DOID:0050669 ! spastic cerebral palsy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:10969
name: hemiplegia
def: "A central nervous system disease that is characterized by the complete paralysis of half of the body. (DO)" [https://en.wikipedia.org/wiki/Hemiparesis "DO"]
synonym: "crossed hemiplegia" EXACT []
synonym: "crossed hemiplegias" EXACT []
synonym: "Flaccid Hemiplegia" EXACT []
synonym: "flaccid hemiplegias" EXACT []
synonym: "HEMIPLEGIA/HEMIPARESIS" BROAD []
synonym: "Hemiplegias" EXACT []
synonym: "Infantile Hemiplegia" EXACT []
synonym: "Infantile Hemiplegias" EXACT []
synonym: "Monoplegia" EXACT []
synonym: "Monoplegias" EXACT []
synonym: "Post-Ictal Hemiplegia" EXACT []
synonym: "post-ictal hemiplegias" EXACT []
synonym: "postnatal infantile hemiplegia" EXACT []
synonym: "transient hemiplegia" EXACT []
synonym: "transient hemiplegias" EXACT []
xref: EFO:0009453
xref: GARD:6583
xref: ICD9CM:343.4
xref: MESH:D006429
is_a: DOID:331 ! central nervous system disease
is_a: DOID:9005246 ! Paralysis

[Term]
id: DOID:10970
name: spastic quadriplegic cerebral palsy
def: "A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking. (DO)" [https://cerebralpalsygroup.com/cerebral-palsy/spastic/ "DO"]
synonym: "inherited congenital spastic quadriplegia" EXACT []
synonym: "inherited congenital spastic tetraplegia" EXACT []
synonym: "quadriplegic infantile cerebral palsy" EXACT []
synonym: "spastic quadriplegia" EXACT []
synonym: "tetraplegic infantile cerebral palsy" EXACT []
xref: GARD:10447
xref: ICD9CM:343.2
xref: MIM:PS612900
xref: ORDO:210141
is_a: DOID:0050669 ! spastic cerebral palsy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:10971
name: acute salpingo-oophoritis
synonym: "acute salpingitis and oophoritis" EXACT []
xref: ICD10CM:N70.03
xref: ICD9CM:614.0
is_a: DOID:10972 ! salpingo-oophoritis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:10972
name: salpingo-oophoritis
synonym: "salpingitis/oophoritis" EXACT []
synonym: "tubo-ovarian inflammatory disease" EXACT []
xref: ICD10CM:N70
xref: ICD9CM:614.2
xref: NCI:C171201
is_a: DOID:10974 ! oophoritis
is_a: DOID:5733 ! salpingitis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:10973
name: acute salpingitis
xref: ICD10CM:N70.01
xref: MONDO:0001173
xref: NCI:C40120
is_a: DOID:5733 ! salpingitis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:10974
name: oophoritis
def: "An ovarian disease that is characterized by inflammation of the ovary. (DO)" [https://en.wikipedia.org/wiki/Oophoritis "DO"]
synonym: "oophoritides" EXACT []
xref: EFO:1001071
xref: ICD10CM:N70.92
xref: MESH:D009869
is_a: DOID:1003 ! pelvic inflammatory disease
is_a: DOID:1100 ! ovarian disease

[Term]
id: DOID:10976
name: membranous glomerulonephritis
alt_id: MIM:614692
def: "A type of glomerulonephritis that is characterized by the accumulation of immune deposits (COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane." [MESH:D015433]
synonym: "CONGENITAL MEMBRANOUS NEPHROPATHY DUE TO FETOMATERNAL ANTI-NEUTRAL ENDOPEPTIDASE ALLOIMMUNIZATION" EXACT []
synonym: "Extramembranous Glomerulopathy" EXACT []
synonym: "Heymann Nephritis" EXACT []
synonym: "idiopathic membranous glomerulonephritides" EXACT []
synonym: "Idiopathic Membranous Glomerulonephritis" EXACT []
synonym: "Idiopathic Membranous Nephropathy" EXACT []
synonym: "MBNP" EXACT []
synonym: "Membranous Glomerulonephritides" EXACT []
synonym: "Membranous Glomerulonephropathy" EXACT []
synonym: "membranous glomerulopathy" EXACT []
synonym: "membranous nephropathy" EXACT []
synonym: "membranous nephropathy, susceptibility to" RELATED []
xref: EFO:0004254
xref: ICD10CM:N03.2
xref: MESH:D015433
xref: NCI:C34645
is_a: DOID:2921 ! glomerulonephritis
is_a: DOID:417 ! autoimmune disease

[Term]
id: DOID:1098
name: hemolytic disease of the fetus
def: "A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK557423/ "DO", MESH:D004899]
synonym: "alloimmune HDFN" EXACT []
synonym: "BLOOD GROUP--KIDD SYSTEM" RELATED []
synonym: "EF - erythroblastosis foetalis" EXACT []
synonym: "Erythroblastosis Fetali" EXACT []
synonym: "Erythroblastosis Fetalis" EXACT []
synonym: "fetal erythroblastosis" EXACT []
synonym: "haemolytic disease due to rhesus isoimmunisation" EXACT []
synonym: "hemolytic disease of newborn" EXACT []
synonym: "Hemolytic disease of the fetus and newborn" EXACT []
synonym: "newborn hemolytic disease" EXACT []
synonym: "newborn hemolytic diseases" EXACT []
synonym: "RADIN BLOOD GROUP" RELATED []
synonym: "rhesus isoimmunisation of the newborn" EXACT []
xref: EFO:1000937
xref: ICD10CM:P55
xref: ICD10CM:P55.9
xref: ICD9CM:773
xref: MESH:D004899
xref: MONDO:0006760
xref: NCI:C101304
is_a: DOID:11252 ! microcytic anemia
is_a: DOID:2914 ! immune system disease
is_a: DOID:9001984 ! Fetal Diseases
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:10983
name: Alport syndrome
def: "A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. (DO)" [http://en.wikipedia.org/wiki/Alport_syndrome "DO"]
synonym: "Alport's syndrome" EXACT []
synonym: "congenital hereditary hematuria" EXACT []
synonym: "DISEASE OF GLOMERULAR BASEMENT MEMBRANE" EXACT []
synonym: "familial nephritis" EXACT []
synonym: "hematuria nephropathy deafness syndrome" EXACT []
synonym: "Hematuric Hereditary Nephritis" EXACT []
synonym: "Hemorrhagic Familial Nephritis" EXACT []
synonym: "hemorrhagic hereditary nephritis" EXACT []
synonym: "hereditary familial congenital hemorrhagic nephritis" EXACT []
synonym: "hereditary hematuria syndrome" EXACT []
synonym: "hereditary interstitial pyelonephritis" EXACT []
synonym: "hereditary nephritis" BROAD []
xref: EFO:0004128
xref: GARD:5785
xref: MESH:D009394
xref: MIM:PS301050
xref: NCI:C34842
xref: ORDO:63
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:10952 ! nephritis
is_a: DOID:225 ! syndrome
is_a: DOID:854 ! collagen disease
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:10986
name: discitis
def: "Inflammation of an INTERVERTEBRAL DISC or disk space which may lead to disk erosion. Until recently, discitis has been defined as a nonbacterial inflammation and has been attributed to aseptic processes (e.g., chemical reaction to an injected substance). However, recent studies provide evidence that infection may be the initial cause, but perhaps not the promoter, of most cases of discitis. Discitis has been diagnosed in patients following discography, myelography, lumbar puncture, paravertebral injection, and obstetrical epidural anesthesia. Discitis following chemonucleolysis (especially with chymopapain) is attributed to chemical reaction by some and to introduction of microorganisms by others." [MESH:D015299]
synonym: "Discitides" EXACT []
synonym: "Diskitides" EXACT []
synonym: "Diskitis" EXACT []
synonym: "Spondylodiscitides" EXACT []
synonym: "Spondylodiscitis" EXACT []
synonym: "Spondylodiskitides" EXACT []
synonym: "Spondylodiskitis" EXACT []
xref: EFO:1000900
xref: ICD10CM:M46.4
xref: MESH:D015299
xref: RDO:0006858
is_a: DOID:1222 ! cartilage disease
is_a: DOID:6590 ! spondylitis

[Term]
id: DOID:10989
name: conjunctival vascular disease
synonym: "Conjunctival vascular abnormality" EXACT [SNOMEDCT_2005_07_31:193900004]
synonym: "vascular abnormalities of conjunctiva" EXACT [ICD9CM_2006:372.74]
xref: ICD10CM:H11.41
xref: ICD9CM:372.74
xref: NCI:C35116
xref: RDO:9003824
is_a: DOID:4251 ! conjunctival disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:1099
name: alpha thalassemia
alt_id: MIM:604131
def: "A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. (DO)" [http://en.wikipedia.org/wiki/Alpha_Thalassemia "DO"]
synonym: "alpha thalassaemia" EXACT []
synonym: "alpha-thalassemia and related diseases" EXACT []
synonym: "ALPHA-THALASSEMIA, HMONG TYPE" NARROW []
synonym: "alpha-Thalassemias" EXACT []
synonym: "ALPHA-THALASSEMIA, ZF TYPE" NARROW []
synonym: "A-Thalassemia" EXACT []
synonym: "HEMOGLOBIN CHAROLLES" RELATED []
synonym: "Hemoglobin Constant Spring" RELATED []
synonym: "HEMOGLOBIN KOYA DORA" RELATED []
synonym: "HEMOGLOBIN MANUKAU" RELATED []
synonym: "Hemoglobin New York" RELATED []
synonym: "hemoglobin Petah Tikva" RELATED []
synonym: "hemoglobin Prato" RELATED []
synonym: "hemoglobin Quong Sze" RELATED []
xref: GARD:621
xref: ICD9CM:282.43
xref: MESH:D017085
xref: NCI:C34368
is_a: DOID:10241 ! thalassemia

[Term]
id: DOID:10991
name: basal ganglia cerebrovascular disease
def: "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA), such as INFARCTION; HEMORRHAGE; or ISCHEMIA in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (DYSKINESIAS) and muscle weakness (HEMIPARESIS)." [MESH:D020144]
synonym: "Basal Ganglia Vascular Disease" EXACT []
synonym: "basal ganglia vascular diseases" EXACT []
synonym: "Lenticulostriate Vascular Disease" EXACT []
synonym: "Lenticulostriate Vascular Diseases" EXACT []
synonym: "Lenticulostriate Vasculopathies" EXACT []
synonym: "Lenticulostriate Vasculopathy" EXACT []
xref: EFO:1000640
xref: MESH:D020144
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:679 ! basal ganglia disease

[Term]
id: DOID:10992
name: acute hemorrhagic leukoencephalitis
alt_id: MIM:606752
alt_id: RDO:0005478
def: "A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. (DO)" [http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis "DO", http://rarediseases.info.nih.gov/gard/8629/acute-hemorrhagic-leukoencephalitis/resources/1 "DO"]
synonym: "acute haemorrhagic leucoencephalitis of Weston Hurst" EXACT [SNOMEDCT_2005_07_31:72986009]
synonym: "acute hemorrhagic encephalomyelitides" EXACT []
synonym: "acute hemorrhagic encephalomyelitis" EXACT []
synonym: "Acute Hemorrhagic Leukoencephalitides" EXACT []
synonym: "acute necrotizing hemorrhagic leukoencephalitis" EXACT []
synonym: "AHL" EXACT [OMIM:606752]
synonym: "Encephalomyelitis, Acute Necrotizing Hemorrhagic" EXACT []
synonym: "Hemorrhagic Necrotizing Encephalomyelitis" EXACT []
synonym: "Hurst's Disease" EXACT []
synonym: "Hurst Disease" EXACT []
synonym: "Hursts Disease" EXACT []
synonym: "Hurst Syndrome" EXACT []
synonym: "Leukoencephalitis Acuta Hemorrhagica" EXACT []
synonym: "Necrotizing Hemorrhagic Encephalomyelitides" EXACT []
synonym: "subacute hemorrhagic leukoencephalitides" EXACT []
synonym: "subacute hemorrhagic leukoencephalitis" EXACT []
synonym: "Weston-Hurst syndrome" EXACT []
xref: EFO:0007132
xref: GARD:8629
xref: MESH:D004684
xref: NCI:C84535
is_a: DOID:639 ! acute disseminated encephalomyelitis
is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS

[Term]
id: DOID:10993
name: postinfectious encephalitis
def: "An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occurring two to three weeks after the initial infection. (DO)" [https://www.mayoclinic.org/diseases-conditions/encephalitis/symptoms-causes/syc-20356136 "DO"]
synonym: "postinfective encephalitis" EXACT []
synonym: "secondary encephalitis" EXACT []
is_a: DOID:0060004 ! autoimmune disease of central nervous system
is_a: DOID:9588 ! encephalitis
created_by: mtutaj
creation_date: 2020-08-23T00:00:00Z

[Term]
id: DOID:10997
name: immature cataract
def: "A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining. (DO)" [https://en.wikipedia.org/wiki/Cataract "DO"]
synonym: "incipient cataract" EXACT []
synonym: "incipient senile cataract" EXACT []
synonym: "water clefts" EXACT []
xref: ICD10CM:H25.09
xref: RDO:9004348
is_a: DOID:9669 ! senile cataract
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:110
name: lens disease
def: "An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye. (DO)" [https://en.wikipedia.org/wiki/Lens_(anatomy) "DO"]
synonym: "lens diseases" EXACT []
xref: EFO:0009674
xref: ICD10CM:H27.9
xref: MESH:D007905
xref: NCI:C26812
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:1100
name: ovarian disease
def: "A female reproductive system disease that is located_in the ovary. (DO)" [https://medlineplus.gov/ovariandisorders.html "DO"]
synonym: "ovarian diseases" EXACT []
xref: EFO:0005771
xref: MESH:D010049
xref: NCI:C26841
is_a: DOID:2277 ! gonadal disease
is_a: DOID:9003261 ! Adnexal Diseases

[Term]
id: DOID:11014
name: anorectal stricture
synonym: "stenosis of rectum and anus" EXACT []
xref: ICD10CM:K62.4
is_a: DOID:3128 ! anus disease
is_a: DOID:9001471 ! Anorectal Malformations

[Term]
id: DOID:11028
name: pseudopterygium
xref: ICD9CM:372.52
is_a: DOID:10124 ! corneal disease
is_a: DOID:10139 ! conjunctival degeneration
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:11029
name: pinguecula
def: "A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS." [MESH:D059407]
synonym: "Pingueculas" EXACT []
xref: EFO:1001824
xref: ICD10CM:H11.15
xref: ICD9CM:372.51
xref: MESH:D059407
xref: NCI:C129468
is_a: DOID:10139 ! conjunctival degeneration
is_a: DOID:4251 ! conjunctival disease

[Term]
id: DOID:11030
name: corneal edema
def: "An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity." [MESH:D015715]
synonym: "corneal edemas" EXACT []
synonym: "corneal oedema" EXACT []
xref: EFO:1000879
xref: ICD10CM:H18.20
xref: ICD9CM:371.2
xref: MESH:D015715
xref: NCI:C50508
is_a: DOID:10124 ! corneal disease

[Term]
id: DOID:11031
name: bullous keratopathy
def: "A blister-like swelling of the cornea." []
xref: ICD10CM:H18.1
xref: ICD9CM:371.23
xref: NCI:C26970
is_a: DOID:11030 ! corneal edema
is_a: DOID:2283 ! keratopathy

[Term]
id: DOID:11032
name: secondary corneal edema
xref: ICD10CM:H18.23
xref: ICD9CM:371.22
is_a: DOID:11030 ! corneal edema
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:11033
name: idiopathic corneal edema
xref: ICD10CM:H18.22
xref: ICD9CM:371.21
xref: RDO:9004443
is_a: DOID:11030 ! corneal edema
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:11034
name: contact lens corneal edema
def: "Corneal edema due to wearing of contact lenses. (ICD-9)" []
xref: ICD9CM:371.24
is_a: DOID:11030 ! corneal edema
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:11036
name: chronic rapidly progressive glomerulonephritis
synonym: "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis" EXACT []
xref: ICD9CM:582.4
is_a: DOID:2921 ! glomerulonephritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11037
name: dissociative amnesia
def: "A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. (DO)" [https://www.merckmanuals.com/professional/psychiatric-disorders/dissociative-disorders/dissociative-amnesia "DO"]
synonym: "dissociative amnesias" EXACT []
synonym: "psychogenic amnesia" EXACT []
xref: ICD10CM:F44.0
xref: ICD9CM:300.12
xref: NCI:C94328
is_a: DOID:10914 ! amnestic disorder
is_a: DOID:10935 ! dissociative disorder
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:11038
name: depersonalization disorder
def: "A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. (DO)" [http://en.wikipedia.org/wiki/Depersonalization_disorder "DO"]
synonym: "Neurotic derealization" EXACT [MTHICD9_2006:300.6]
xref: GARD:6260
xref: ICD9CM:300.6
xref: NCI:C94331
xref: RDO:9004219
is_a: DOID:10935 ! dissociative disorder
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:11042
name: Felty's syndrome
alt_id: MIM:134750
def: "A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. (DO)" [http://en.wikipedia.org/wiki/Felty%27s_syndrome "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000445.htm "DO"]
synonym: "familial Felty's syndrome" EXACT []
synonym: "Familial Feltys Syndrome" EXACT []
synonym: "Familial Felty Syndrome" EXACT []
synonym: "Feltys Syndrome" EXACT []
synonym: "Felty syndrome" EXACT []
synonym: "rheumatoid arthritis, splenomegaly and neutropenia" EXACT []
synonym: "rheumatoid arthritis with splenoadenomegaly and leukopenia" EXACT []
xref: EFO:0007269
xref: GARD:8234
xref: ICD10CM:M05.0
xref: ICD9CM:714.1
xref: MESH:D005258
xref: NCI:C84712
is_a: DOID:225 ! syndrome
is_a: DOID:7148 ! rheumatoid arthritis

[Term]
id: DOID:11044
name: gastroschisis
alt_id: MIM:230750
def: "A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM." [MESH:D020139]
synonym: "congenital fissure of the abdominal cavity" EXACT []
synonym: "gastroschises" EXACT []
xref: EFO:1000949
xref: GARD:8661
xref: ICD10CM:Q79.3
xref: ICD9CM:756.73
xref: MESH:D020139
xref: NCI:C84725
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9004681 ! Abdominal Hernia
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:11049
name: meconium aspiration syndrome
def: "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27206687/ "DO"]
synonym: "meconium aspiration" EXACT []
synonym: "meconium inhalation" EXACT []
synonym: "neonatal aspiration of meconium" EXACT []
xref: EFO:1001037
xref: GARD:10494
xref: ICD10CM:P24.0
xref: ICD10CM:P24.00
xref: ICD10CM:P24.01
xref: MESH:D008471
xref: NCI:C87093
is_a: DOID:225 ! syndrome
is_a: DOID:9000310 ! Lung Injury
is_a: DOID:9001984 ! Fetal Diseases
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:11054
name: urinary bladder cancer
alt_id: MIM:109800
def: "An urinary system cancer that results_in malignant growth located_in the urinary bladder. (DO)" [http://en.wikipedia.org/wiki/Bladder_cancer "DO"]
synonym: "bladder cancer" EXACT []
synonym: "bladder cancers" EXACT []
synonym: "BLADDER CANCER, TRANSITIONAL CELL, SOMATIC" NARROW []
synonym: "cancer of bladder" EXACT []
synonym: "cancer of the bladder" EXACT []
synonym: "malignant tumor of urinary bladder" EXACT []
synonym: "tumor of the bladder" EXACT []
xref: GARD:12210
xref: ICD10CM:C67
xref: ICD9CM:188
xref: MESH:D001749
xref: MONDO:0001187
xref: NCI:C2901
xref: NCI:C9334
is_a: DOID:3996 ! urinary system cancer
is_a: DOID:9009116 ! Urinary Bladder Neoplasm

[Term]
id: DOID:11055
name: pasteurellosis
def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. (DO)" [http://en.wikipedia.org/wiki/Pasteurellosis "DO"]
synonym: "pasteurella infection" EXACT []
synonym: "pasteurella infections" EXACT []
synonym: "pasteurella infectious disease" EXACT []
synonym: "pasteurelloses" EXACT []
xref: EFO:0007424
xref: ICD10CM:A28.0
xref: ICD9CM:027.2
xref: MESH:D010326
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9008746 ! Pasteurellaceae Infections

[Term]
id: DOID:1106
name: esophagus lymphoma
synonym: "lymphoma of esophagus" EXACT []
synonym: "lymphoma of oesophagus" EXACT []
synonym: "oesophagus lymphoma" EXACT []
xref: NCI:C5687
is_a: DOID:0060058 ! lymphoma
is_a: DOID:5041 ! esophageal cancer
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:11060
name: placenta praevia
def: "A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. (DO)" [http://en.wikipedia.org/wiki/Placenta_previa "DO"]
synonym: "placenta previa" EXACT []
xref: EFO:0007442
xref: ICD10CM:O44
xref: MESH:D010923
xref: NCI:C26858
is_a: DOID:780 ! placenta disease
is_a: DOID:9000610 ! Obstetric Labor Complications

[Term]
id: DOID:1107
name: esophageal carcinoma
def: "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Esophageal_cancer "DO"]
synonym: "cancer of esophagus" EXACT []
synonym: "cancer of oesophagus" EXACT []
synonym: "carcinoma of esophagus" EXACT []
synonym: "carcinoma of oesophagus" EXACT []
synonym: "esophageal carcinoma, somatic" EXACT []
xref: EFO:0002916
xref: NCI:C3513
xref: ORDO:70482
is_a: DOID:305 ! carcinoma
is_a: DOID:5041 ! esophageal cancer
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:11076
name: Brucella suis brucellosis
def: "A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. (DO)" [http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5822a3.htm "DO"]
is_a: DOID:11077 ! brucellosis
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:11077
name: brucellosis
def: "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. (DO)" [http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm "DO"]
synonym: "brucelloses" EXACT []
synonym: "Cyprus fever" EXACT []
synonym: "Cyprus fevers" EXACT []
synonym: "Gibraltar fever" RELATED []
synonym: "Malta fever" EXACT []
synonym: "Maltese fever" EXACT []
synonym: "Mediterranean fever" RELATED []
synonym: "pulmonary brucelloses" EXACT []
synonym: "pulmonary brucellosis" EXACT []
synonym: "rock fever" EXACT []
synonym: "rock fevers" EXACT []
synonym: "undulant fever" EXACT []
xref: EFO:0007185
xref: GARD:5966
xref: ICD10CM:A23
xref: ICD9CM:023
xref: MESH:D002006
xref: NCI:C84602
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:11079
name: leech infestation
def: "A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream. (DO)" [http://en.wikipedia.org/wiki/Leech "DO", http://www.plosone.org/article/info\:doi/10.1371/journal.pone.0010057 "DO"]
synonym: "hirudiniasis" EXACT []
synonym: "leeches" EXACT []
xref: ICD10CM:B88.3
xref: ICD9CM:134.2
is_a: DOID:4110 ! parasitic ectoparasitic infectious disease

[Term]
id: DOID:1108
name: esophagus melanoma
synonym: "esophageal melanoma" EXACT []
synonym: "melanoma of esophagus" EXACT []
synonym: "melanoma of oesophagus" EXACT []
synonym: "oesophagus melanoma" EXACT []
xref: MONDO:0001192
xref: NCI:C5707
is_a: DOID:1909 ! melanoma
is_a: DOID:5784 ! esophageal neuroendocrine tumor
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:11080
name: myiasis
def: "A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. (DO)" [http://en.wikipedia.org/wiki/Myiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm "DO"]
synonym: "infestation by fly larvae" EXACT []
synonym: "infestation by maggots" EXACT []
synonym: "Maggot Infestation" EXACT []
synonym: "Maggot Infestations" EXACT []
synonym: "Myiases" EXACT []
xref: EFO:0007389
xref: ICD10CM:B87
xref: ICD9CM:134.0
xref: MESH:D009198
xref: NCI:C128400
is_a: DOID:4110 ! parasitic ectoparasitic infectious disease

[Term]
id: DOID:11086
name: chorioretinal scar
xref: ICD10CM:H31.0
xref: ICD9CM:363.3
is_a: DOID:5679 ! retinal disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:11088
name: asphyxia neonatorum
def: "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain. (DO)" [https://en.wikipedia.org/wiki/Perinatal_asphyxia "DO"]
synonym: "asphyxia in liveborn infant" EXACT []
synonym: "birth asphyxia" EXACT []
synonym: "postnatal asphyxia" EXACT []
xref: EFO:1000824
xref: GARD:5857
xref: ICD10CM:P84
xref: ICD9CM:768.9
xref: MESH:D001238
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:9001041 ! Asphyxia
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:11100
name: Q fever
def: "A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. (DO)" [http://en.wikipedia.org/wiki/Q_fever "DO", http://www.cdc.gov/qfever/symptoms/index.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/15021054 "DO"]
synonym: "Acute Q Fever" EXACT []
synonym: "Acute Q Fevers" EXACT []
synonym: "Chronic Q Fever" EXACT []
synonym: "Chronic Q Fevers" EXACT []
synonym: "Coxiella burnetii Fever" EXACT []
synonym: "Coxiella burnetii Fevers" EXACT []
synonym: "Coxiella burnetii Infection" EXACT []
synonym: "Coxiella burnetii Infections" EXACT []
synonym: "Coxiella burnetii Vector Borne Disease" EXACT []
synonym: "infection due to Coxiella burnetii" EXACT []
synonym: "Q Fevers" EXACT []
synonym: "Query Fever" EXACT []
synonym: "Query Fevers" EXACT []
xref: EFO:0005224
xref: GARD:7515
xref: ICD10CM:A78
xref: ICD9CM:083.0
xref: MESH:D011778
xref: NCI:C34970
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:11101
name: trench fever
def: "A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back. (DO)" [http://en.wikipedia.org/wiki/Trench_fever "DO"]
synonym: "His-Werner disease" EXACT []
synonym: "Quintan fever" EXACT []
synonym: "shin bone fever" EXACT []
synonym: "tibialgic fever" EXACT []
synonym: "trench fevers" EXACT []
synonym: "Wolhynian fever" EXACT []
xref: EFO:0007519
xref: ICD10CM:A79.0
xref: ICD9CM:083.1
xref: MESH:D014205
is_a: DOID:11102 ! bartonellosis

[Term]
id: DOID:11102
name: bartonellosis
def: "A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. (DO)" [https://en.wikipedia.org/wiki/Bartonellosis "DO"]
synonym: "Bartonella Infection" EXACT []
synonym: "Bartonella infections" EXACT []
synonym: "Bartonella infectious disease" EXACT []
synonym: "bartonelliasis" EXACT []
synonym: "bartonelloses" EXACT []
synonym: "Rochalimaea infection" EXACT []
synonym: "Rochalimaea infections" EXACT []
synonym: "verruga peruana" EXACT []
xref: EFO:0007166
xref: ICD10CM:A44
xref: ICD9CM:088.0
xref: MESH:D001474
xref: NCI:C84586
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9003175 ! Bartonellaceae Infections

[Term]
id: DOID:11103
name: rickettsialpox
def: "A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. (DO)" [http://www.cdc.gov/otherspottedfever/index.html "DO"]
synonym: "Rickettsia akari spotted fever" EXACT []
synonym: "Vesicular rickettsiosis" EXACT []
xref: ICD10CM:A79.1
xref: ICD9CM:083.2
is_a: DOID:11104 ! spotted fever
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:11104
name: spotted fever
def: "A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. (DO)" [http://www.cdc.gov/otherspottedfever/index.html "DO"]
synonym: "spotted fever group rickettsial disease" EXACT []
xref: EFO:1002047
xref: GARD:4998
xref: ICD10CM:A77.9
xref: ICD9CM:082.0
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9007347 ! Rickettsia Infections
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:11105
name: fundus albipunctatus
alt_id: MIM:136880
def: "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. (DO)" [http://www.omim.org/entry/136880 "DO"]
synonym: "FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE" NARROW []
synonym: "pigmentary retinal dystrophy" EXACT []
synonym: "RETINITIS PUNCTATA ALBESCENS" NARROW []
synonym: "RETINITIS PUNCTATA ALBESCENS, AUTOSOMAL DOMINANT" NARROW []
xref: MESH:C562733
is_a: DOID:5679 ! retinal disease
is_a: DOID:8501 ! fundus dystrophy

[Term]
id: DOID:11111
name: hydronephrosis
def: "Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER." [MESH:D006869]
synonym: "Hydronephroses" EXACT []
xref: EFO:0005562
xref: ICD10CM:N13.30
xref: ICD9CM:591
xref: MESH:D006869
xref: NCI:C26796
is_a: DOID:5200 ! urinary tract obstruction
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:11119
name: Gilles de la Tourette syndrome
alt_id: MIM:137580
def: "A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. (DO)" [http://en.wikipedia.org/wiki/Tic_disorder "DO", http://en.wikipedia.org/wiki/Tourette%27s_disorder "DO"]
synonym: "chronic motor and vocal tic disorder" EXACT []
synonym: "combined multiple motor and vocal tic disorder" EXACT []
synonym: "Gilles de la Tourette's Disease" EXACT []
synonym: "Gilles De La Tourette's Syndrome" EXACT []
synonym: "GTS" EXACT []
synonym: "Guinon's disease" EXACT []
synonym: "motor-verbal tic disorder" EXACT []
synonym: "psychogenic tics" EXACT []
synonym: "Tourette's Disease" EXACT []
synonym: "Tourette's Disorder" EXACT []
synonym: "Tourette's syndrome" EXACT []
synonym: "Tourette Disease" EXACT []
synonym: "Tourette Disorder" EXACT []
synonym: "TOURETTE DISORDER CHRONIC MOTOR TICS" NARROW []
synonym: "Tourettes Disease" EXACT []
synonym: "Tourettes Disorder" EXACT []
synonym: "Tourettes syndrome" EXACT []
synonym: "Tourette syndrome" EXACT []
synonym: "TS" EXACT []
xref: EFO:0004895
xref: GARD:7783
xref: ICD10CM:F95.2
xref: ICD9CM:307.23
xref: MESH:D005879
xref: NCI:C35078
is_a: DOID:225 ! syndrome
is_a: DOID:2769 ! tic disorder
is_a: DOID:679 ! basal ganglia disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:11120
name: psychologic dyspareunia
def: "Recurrent genital pain occurring during, before, or after SEXUAL INTERCOURSE in either the male or the female." [MESH:D004414]
synonym: "dyspareunia" EXACT []
synonym: "non-organic dyspareunia" EXACT []
synonym: "psychogenic dyspareunia" EXACT []
xref: ICD10CM:F52.6
xref: ICD9CM:302.76
xref: MESH:D004414
xref: MONDO:0001196
is_a: DOID:10132 ! psychosexual disorder
is_a: DOID:1876 ! sexual dysfunction

[Term]
id: DOID:11121
name: pulpitis
def: "A dental pulp disease characterized by inflammation. (DO)" [https://www.ada.org/publications/cdt/glossary-of-dental-clinical-terms "DO", https://www.merckmanuals.com/professional/dental-disorders/common-dental-disorders/pulpitis "DO"]
synonym: "endodontic inflammation" EXACT []
synonym: "endodontic inflammations" EXACT []
synonym: "pulpitides" EXACT []
xref: EFO:1001139
xref: ICD10CM:K04.0
xref: ICD9CM:522.0
xref: MESH:D011671
xref: NCI:C52595
is_a: DOID:5330 ! dental pulp disease

[Term]
id: DOID:11123
name: Henoch-Schoenlein purpura
def: "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection. (DO)" [https://rarediseases.info.nih.gov/diseases/8204/henoch-schonlein-purpura "DO"]
synonym: "allergic purpura" EXACT []
synonym: "Anaphylactoid Purpura" EXACT []
synonym: "autoimmune purpura" EXACT []
synonym: "Hemorrhagic Vasculitis" EXACT []
synonym: "Henoch Purpura" EXACT []
synonym: "Henoch-Schoenlein purpura nephritis" NARROW []
synonym: "Henoch-Scholein purpura" EXACT []
synonym: "Henoch Schonlein Purpura" EXACT []
synonym: "Henoch Schonlein Purpuras" EXACT []
synonym: "Henoch-Schönlein purpura" EXACT []
synonym: "HSP" EXACT []
synonym: "IgAV" EXACT []
synonym: "IgA vasculitis" EXACT []
synonym: "Nonthrombocytopenic Purpura" EXACT []
synonym: "Nonthrombopenic Purpura" EXACT []
synonym: "Nonthrombopenic Purpuras" EXACT []
synonym: "Purpura Hemorrhagica" EXACT []
synonym: "rheumatoid purpura" EXACT []
xref: EFO:1000965
xref: GARD:8204
xref: ICD10CM:D69.0
xref: ICD9CM:287.0
xref: MESH:D011695
xref: NCI:C34963
is_a: DOID:3326 ! purpura
is_a: DOID:484 ! vascular hemostatic disease
is_a: DOID:9809 ! hypersensitivity vasculitis

[Term]
id: DOID:11125
name: qualitative platelet defect
synonym: "Qualitative platelet deficiency" EXACT [SNOMEDCT_2005_07_31:191311007]
xref: ICD9CM:287.1
xref: RDO:9002789
is_a: DOID:2218 ! blood platelet disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:11126
name: acquired thrombocytopenia
synonym: "secondary thrombocytopenia" EXACT []
xref: ICD10CM:D69.5
xref: ICD9CM:287.4
xref: RDO:9002307
is_a: DOID:1588 ! thrombocytopenia
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:11129
name: dislocation of ear ossicle
synonym: "dislocation of ear ossicles" EXACT []
xref: ICD9CM:385.23
xref: MONDO:0001199
is_a: DOID:5100 ! middle ear disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:11130
name: secondary hypertension
xref: EFO:1002034
xref: ICD10CM:I15
xref: ICD9CM:405
xref: NCI:C3657
xref: RDO:9001819
is_a: DOID:10763 ! hypertension
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:11132
name: prostatic hypertrophy
alt_id: MIM:600082
def: "Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." [MESH:D011470]
synonym: "benign prostatic hyperplasia" EXACT []
synonym: "benign prostatic hypertrophy" EXACT []
synonym: "prostatic hyperplasia" EXACT []
xref: EFO:0000284
xref: MESH:D011470
xref: NCI:C2897
is_a: DOID:47 ! prostate disease

[Term]
id: DOID:11133
name: prostatic cyst
synonym: "cyst of prostate" EXACT []
xref: ICD10CM:N42.83
xref: ICD9CM:600.3
xref: MONDO:0001202
is_a: DOID:11132 ! prostatic hypertrophy
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:11134
name: prolapse of lacrimal gland
synonym: "dislocation of lacrimal gland" EXACT []
xref: ICD10CM:H04.16
xref: ICD9CM:375.16
is_a: DOID:1400 ! lacrimal apparatus disease
is_a: DOID:9006649 ! Prolapse
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:1114
name: esophagus sarcoma
def: "An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. (DO)" [http://en.wikipedia.org/wiki/Sarcoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/1658495 "DO"]
synonym: "esophageal sarcoma" EXACT []
xref: NCI:C5341
is_a: DOID:1115 ! sarcoma
is_a: DOID:5041 ! esophageal cancer
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:11148
name: hypersecretion glaucoma
def: "A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow. (DO)" [https://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants "DO", https://jamanetwork.com/journals/jamaophthalmology/article-abstract/624904 "DO"]
xref: ICD10CM:H40.82
xref: ICD9CM:365.81
is_a: DOID:1686 ! glaucoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:11149
name: aqueous misdirection
def: "A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity. (DO)" [https://eyewiki.aao.org/Aqueous_misdirection "DO"]
xref: ICD10CM:H40.83
xref: ICD9CM:365.83
is_a: DOID:1686 ! glaucoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:1115
name: sarcoma
def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. (DO)" [http://cancergenome.nih.gov/cancersselected/Sarcoma "DO", http://en.wikipedia.org/wiki/Sarcoma "DO", http://www.cancer.gov/dictionary?CdrID=45562 "DO"]
synonym: "connective and soft tissue neoplasm" EXACT []
synonym: "sarcomas" EXACT []
synonym: "soft tissue sarcoma" NARROW []
synonym: "soft tissue sarcomas" NARROW []
synonym: "tumor of soft tissue and skeleton" EXACT []
xref: EFO:0000691
xref: EFO:1001968
xref: ICD9CM:171.9
xref: ICDO:8800/3
xref: MESH:D012509
xref: NCI:C128195
xref: NCI:C132276
xref: NCI:C21603
xref: NCI:C60505
xref: NCI:C9118
xref: NCI:C9306
is_a: DOID:0050687 ! cell type cancer
is_a: DOID:9008612 ! Connective and Soft Tissue Neoplasms

[Term]
id: DOID:11151
name: cholecystolithiasis
def: "Presence or formation of GALLSTONES in the GALLBLADDER." [MESH:D041761]
xref: EFO:1000864
xref: MESH:D041761
xref: NCI:C34443
is_a: DOID:0060262 ! gallbladder disease
is_a: DOID:10211 ! cholelithiasis

[Term]
id: DOID:11153
name: miliaria rubra
def: "A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction. (DO)" [https://en.wikipedia.org/wiki/Miliaria "DO", https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO"]
synonym: "prickly heat" EXACT []
xref: EFO:1000735
xref: ICD10CM:L74.0
xref: ICD9CM:705.1
is_a: DOID:1382 ! miliaria

[Term]
id: DOID:11155
name: hypohidrosis
def: "A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands. (DO)" [https://en.wikipedia.org/wiki/Hypohidrosis "DO"]
synonym: "oligohidrosis" EXACT []
xref: EFO:1000712
xref: ICD10CM:L74.4
xref: MESH:D007007
xref: NCI:C34718
is_a: DOID:1383 ! sweat gland disease

[Term]
id: DOID:11156
name: anhidrosis
def: "A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin. (DO)" [https://en.wikipedia.org/wiki/Hypohidrosis "DO", https://my.clevelandclinic.org/health/diseases/15891-anhidrosis-lack-of-sweat "DO"]
synonym: "absence of sweating" EXACT []
synonym: "adiaphoresis" EXACT []
synonym: "familial generalized anhidrosis with abnormal or absent sweat glands" NARROW []
synonym: "familial generalized anhidrosis with normal sweat glands" NARROW []
xref: EFO:1000670
xref: ICD9CM:705.0
xref: MIM:206600
xref: NCI:C34385
is_a: DOID:11155 ! hypohidrosis
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:1116
name: pertussis
def: "A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). (DO)" [http://en.wikipedia.org/wiki/Pertussis "DO", http://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800 "DO"]
synonym: "pertusses" EXACT []
synonym: "respiratory Bordetella pertussis infection" EXACT []
synonym: "WC - whooping cough" EXACT []
synonym: "whooping cough" EXACT []
xref: EFO:0000650
xref: MESH:D014917
is_a: DOID:0050339 ! commensal bacterial infectious disease
is_a: DOID:9007021 ! Bordetella Infections
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:11161
name: neonatal respiratory failure
def: "A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26781405/ "DO"]
synonym: "respiratory failure of newborn" EXACT []
xref: ICD10CM:P28.5
xref: ICD9CM:770.84
is_a: DOID:11162 ! respiratory failure
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:11162
name: respiratory failure
def: "A lung disease characterized by inadequate gas exchange by the respiratory system. (DO)" [http://en.wikipedia.org/wiki/Respiratory_failure "DO"]
synonym: "acute and chronic respiratory failure" EXACT []
synonym: "acute-on-chronic respiratory failure" EXACT []
synonym: "acute respiratory failure" NARROW []
synonym: "chronic respiratory failure" NARROW []
synonym: "Depressions, Ventilatory" EXACT []
synonym: "PROGRESSIVE PULMONARY FAILURE" NARROW []
synonym: "Respiratory Depression" EXACT []
synonym: "Respiratory Insufficiency" EXACT []
synonym: "respiratory insufficiency/failure" EXACT []
synonym: "Ventilatory Depression" EXACT []
xref: EFO:0009686
xref: EFO:0009842
xref: ICD10CM:J96.0
xref: ICD9CM:518.81
xref: MESH:D012131
xref: NCI:C27043
is_a: DOID:850 ! lung disease
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:11164
name: band keratopathy
alt_id: MIM:217500
synonym: "band-shaped corneal dystrophy" EXACT []
synonym: "band-shaped keratopathy" EXACT []
xref: ICD10CM:H18.42
xref: ICD9CM:371.43
xref: MESH:C562399
xref: NCI:C118765
is_a: DOID:1237 ! corneal degeneration
is_a: DOID:2566 ! corneal dystrophy

[Term]
id: DOID:11165
name: common wart
def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body. (DO)" [http://en.wikipedia.org/wiki/Wart "DO"]
xref: EFO:0009662
xref: NCI:C27087
xref: NCI:C5028
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:11166
name: papillomavirus infectious disease
def: "Papilloma virus infections commonly cause skin or mucous membrane growths (warts)." []
synonym: "chronic human papillomavirus infection" NARROW []
synonym: "HPV18I1" RELATED []
synonym: "HPV18I2" RELATED []
synonym: "human papilloma virus infection" NARROW []
synonym: "human papillomavirus infectious disease" NARROW []
synonym: "human papillomavirus type 18 integration site 1" RELATED []
synonym: "human papillomavirus type 18 integration site 2" RELATED []
synonym: "Papillomavirus Infection" EXACT []
synonym: "papillomavirus infections" EXACT []
synonym: "papillomavirus type 18 integration site 1" RELATED []
synonym: "papillomavirus type 18 integration site 2" RELATED []
xref: EFO:0001668
xref: EFO:0010060
xref: MESH:D030361
is_a: DOID:9000251 ! DNA Virus Infections
is_a: DOID:9003373 ! Uterine Cervical Neoplasms
is_a: DOID:9004886 ! Tumor Virus Infections
created_by: mtutaj
creation_date: 2019-10-16T08:47:32Z

[Term]
id: DOID:11168
name: anogenital venereal wart
def: "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194d.html "DO"]
synonym: "anogenital human papilloma virus infectious disease" EXACT []
synonym: "anogenital warts" EXACT []
synonym: "condyloma acuminatum" EXACT []
synonym: "Condylomata Acuminata" EXACT []
synonym: "Genital Wart" EXACT []
synonym: "Genital Warts" EXACT []
synonym: "genital wart virus infectious disease" EXACT []
synonym: "Venereal Wart" EXACT []
synonym: "Venereal Warts" EXACT []
xref: EFO:0007147
xref: ICD10CM:A63.0
xref: ICD9CM:078.11
xref: MESH:D003218
xref: NCI:C2960
xref: NCI:C4820
is_a: DOID:121 ! vaginal disease
is_a: DOID:1529 ! penile disease
is_a: DOID:3128 ! anus disease
is_a: DOID:3178 ! skin papilloma
is_a: DOID:9003767 ! Viral Sexually Transmitted Diseases

[Term]
id: DOID:11175
name: enophthalmos
def: "Recession of the eyeball into the orbit." [MESH:D015841]
xref: ICD10CM:H05.4
xref: ICD9CM:376.5
xref: MESH:D015841
xref: NCI:C79552
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:11177
name: total internal ophthalmoplegia
xref: ICD9CM:367.52
is_a: DOID:10034 ! eye accommodation disease
is_a: DOID:238 ! pupil disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11180
name: non-suppurative otitis media
def: "A otitis media which involves transudation of fluid in the middle ear without pus formation. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 "DO"]
synonym: "nonsuppurative otitis media" EXACT []
xref: ICD10CM:H65
xref: ICD9CM:381.4
is_a: DOID:10754 ! otitis media
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:11181
name: serous glue ear
def: "A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment. (DO)" [http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion "DO"]
xref: ICD10CM:H65.2
xref: ICD9CM:381.1
xref: RDO:9003852
is_a: DOID:11180 ! non-suppurative otitis media
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:11184
name: acute conjunctivitis
xref: ICD10CM:H10.02
xref: ICD9CM:372.03
is_a: DOID:6195 ! conjunctivitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11186
name: allescheriosis
def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. (DO)" [https://pubmed.ncbi.nlm.nih.gov/934264/ "DO"]
synonym: "petriellidosis" EXACT []
xref: ICD10CM:B48.2
xref: ICD9CM:117.6
is_a: DOID:0050292 ! primary systemic mycosis
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:11189
name: pulp degeneration
xref: ICD10CM:K04.2
xref: ICD9CM:522.2
xref: NCI:C34962
is_a: DOID:5330 ! dental pulp disease

[Term]
id: DOID:11190
name: pseudomembranous conjunctivitis
def: "A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. (DO)" [http://bjo.bmj.com/content/55/5/312.full.pdf "DO", https://www.ncbi.nlm.nih.gov/pubmed/9400798 "DO"]
xref: ICD10CM:H10.22
xref: ICD9CM:372.04
xref: NCI:C35196
xref: RDO:9003079
is_a: DOID:11184 ! acute conjunctivitis
is_a: DOID:6195 ! conjunctivitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11193
name: syndactyly
def: "A synostosis that results_in the fusion of two or more digits. (DO)" [http://en.wikipedia.org/wiki/Syndactyly "DO", http://www.hmc.psu.edu/healthinfo/pq/poly.htm "DO", http://www.wheelessonline.com/ortho/syndactyly "DO"]
synonym: "non-syndromic syndactyly" NARROW []
synonym: "polysyndactyly" EXACT []
synonym: "symphalangism" EXACT []
synonym: "symphalangy" EXACT []
synonym: "syndactylia" EXACT []
synonym: "syndactylias" EXACT []
synonym: "syndactylies" EXACT []
synonym: "webbing of digits" EXACT []
xref: GARD:13181
xref: ICD10CM:Q70
xref: ICD9CM:755.1
xref: MESH:D013576
xref: NCI:C125597
xref: NCI:C87125
xref: ORDO:90025
is_a: DOID:11971 ! synostosis
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:11195
name: acute laryngopharyngitis
def: "An upper respiratory tract disease which involves inflammation of both larynx and pharynx. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngopharyngitis "DO"]
xref: ICD10CM:J06.0
xref: ICD9CM:465.0
xref: RDO:9004967
is_a: DOID:974 ! upper respiratory tract disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:11197
name: serous conjunctivitis except viral
def: "A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge. (DO)" [https://www.aafp.org/afp/1998/0215/p735.html "DO"]
xref: ICD10CM:H10.23
xref: ICD9CM:372.01
is_a: DOID:11184 ! acute conjunctivitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11198
name: DiGeorge syndrome
alt_id: MIM:188400
def: "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome "DO", https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome "DO"]
synonym: "22q11.2 deletion syndrome" EXACT []
synonym: "22q11.2DS" EXACT []
synonym: "autosomal dominant Opitz G Bbb syndrome" EXACT []
synonym: "CATCH22" NARROW []
synonym: "CHROMOSOME 22q11.2 DELETION SYNDROME" EXACT []
synonym: "DGCR" NARROW []
synonym: "DGS" EXACT []
synonym: "DiGeorge's syndrome" EXACT []
synonym: "DiGeorge Anomaly" EXACT []
synonym: "DiGeorge Sequence" EXACT []
synonym: "Familial Third and Fourth Pharyngeal Pouch Syndrome" EXACT []
synonym: "hypoplasia of thymus and parathyroids" EXACT []
synonym: "pharyngeal pouch syndrome" EXACT []
synonym: "Sedlackova syndrome" EXACT []
synonym: "third and fourth pharyngeal pouch syndrome" NARROW []
synonym: "thymic aplasia syndrome" EXACT []
xref: GARD:10299
xref: ICD10CM:D82.1
xref: ICD9CM:279.11
xref: MESH:D004062
xref: NCI:C2989
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9001460 ! 22q11 Deletion Syndrome

[Term]
id: DOID:11199
name: hypoparathyroidism
def: "A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. (DO)" [http://en.wikipedia.org/wiki/Hypoparathyroidism "DO", http://ghr.nlm.nih.gov/glossary=hypoparathyroidism "DO", http://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956 "DO"]
synonym: "idiopathic hypoparathyroidism" EXACT []
xref: EFO:0009451
xref: GARD:6733
xref: ICD10CM:E20
xref: ICD9CM:252.1
xref: MESH:D007011
xref: NCI:C78350
xref: ORDO:2238
is_a: DOID:11201 ! parathyroid gland disease

[Term]
id: DOID:112
name: esophageal varix
def: "Dilated blood vessels in the ESOPHAGUS or GASTRIC FUNDUS that shunt blood from the portal circulation (PORTAL SYSTEM) to the systemic venous circulation. Often they are observed in individuals with portal hypertension (HYPERTENSION, PORTAL)." [MESH:D004932]
synonym: "Bleeding esophageal varices" EXACT [SNOMEDCT_2005_07_31:17709002]
synonym: "Bleeding oesophageal varices" EXACT [SNOMEDCT_2005_07_31:236067006]
synonym: "Esophageal and Gastric Varices" EXACT []
synonym: "esophageal varices" EXACT []
synonym: "esophageal varices in disease classified elsewhere, with bleeding" EXACT []
synonym: "esophageal varices with bleeding" EXACT []
synonym: "esophageal varices with bleeding in disease EC" EXACT []
synonym: "esophageal varices without bleeding" EXACT []
synonym: "esophageal varices without mention of bleeding" EXACT []
synonym: "gastric varices" EXACT []
synonym: "Gastric Varix" EXACT []
xref: EFO:0009545
xref: GARD:6384
xref: ICD10CM:I85.01
xref: ICD9CM:456.0
xref: ICD9CM:456.2
xref: ICD9CM:456.20
xref: MESH:D004932
xref: MONDO:0001221
xref: NCI:C53506
xref: NCI:C78282
is_a: DOID:10762 ! portal hypertension
is_a: DOID:6050 ! esophageal disease
is_a: DOID:866 ! vein disease

[Term]
id: DOID:11200
name: T cell deficiency
alt_id: DOID:613
def: "A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. (DO)" [https://en.wikipedia.org/wiki/T_cell_deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/18755723 "DO"]
synonym: "T-cell Immunodeficiency" EXACT []
synonym: "T-lymphocyte deficiency" EXACT []
synonym: "T-lymphocyte immunodeficiency" EXACT []
xref: NCI:C27145
xref: NCI:C27872
is_a: DOID:612 ! primary immunodeficiency disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:11201
name: parathyroid gland disease
def: "An endocrine system disease that is located_in the parathyroid gland. (DO)" [http://en.wikipedia.org/wiki/Parathyroid_disease "DO"]
synonym: "disease of parathyroid glands" EXACT []
synonym: "Parathyroid Disease" EXACT []
synonym: "parathyroid diseases" EXACT []
synonym: "Parathyroid Disorder" EXACT []
synonym: "parathyroid disorders" EXACT []
xref: EFO:0005754
xref: ICD10CM:E21.5
xref: ICD9CM:252.9
xref: MESH:D010279
xref: NCI:C26844
is_a: DOID:28 ! endocrine system disease

[Term]
id: DOID:11202
name: primary hyperparathyroidism
def: "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood. (DO)" [https://rarediseases.org/rare-diseases/primary-hyperparathyroidism/ "DO"]
synonym: "familial benign hypercalcemia" EXACT [SNOMEDCT_2005_07_31:190868007]
synonym: "familial primary hyperparathyroidism" EXACT []
synonym: "primary hyperparathyroidisms" EXACT []
xref: EFO:0002620
xref: EFO:0008519
xref: GARD:8612
xref: ICD10CM:E21.0
xref: ICD9CM:252.01
xref: MESH:D049950
xref: NCI:C48280
xref: ORDO:99878
is_a: DOID:13543 ! hyperparathyroidism

[Term]
id: DOID:11203
name: Angelucci's syndrome
synonym: "acute atopic conjunctivitis" EXACT [SNOMEDCT_2005_07_31:193863004]
synonym: "Angelucci syndrome" EXACT []
xref: ICD10CM:H10.1
xref: ICD9CM:372.05
xref: NCI:C34353
xref: RDO:9002737
is_a: DOID:11204 ! allergic conjunctivitis
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:11204
name: allergic conjunctivitis
def: "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. (DO)" [http://en.wikipedia.org/wiki/Allergic_conjunctivitis "DO"]
synonym: "Allergic Conjunctivitides" EXACT []
synonym: "Atopic Conjunctivitides" EXACT []
synonym: "Atopic Conjunctivitis" EXACT []
xref: EFO:0007141
xref: MESH:D003233
xref: NCI:C34506
is_a: DOID:2475 ! chronic conjunctivitis
is_a: DOID:9002850 ! Immediate Hypersensitivity

[Term]
id: DOID:11206
name: opioid abuse
def: "A substance abuse that involves the recurring use of opioid drugs despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Opioid "DO"]
synonym: "opioid use disorder" EXACT []
xref: EFO:0010702
xref: ICD10CM:F11.1
xref: ICD9CM:305.5
is_a: DOID:302 ! substance abuse
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:11211
name: buphthalmos
alt_id: MIM:231300
def: "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1135/ "DO"]
synonym: "BUPHTHALMOS GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET" NARROW []
synonym: "congenital glaucoma" BROAD []
synonym: "CYP1B1-RELATED CONDITION" BROAD []
synonym: "CYP1B1-RELATED DISORDER" BROAD []
synonym: "GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC" NARROW []
synonym: "GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET" NARROW []
synonym: "GLC3" EXACT []
synonym: "GLC3A" EXACT []
synonym: "primary congenital glaucoma 3, A" EXACT []
synonym: "primary congenital glaucoma 3A" EXACT []
synonym: "simple buphthalmos" EXACT []
xref: ICD9CM:743.21
xref: MESH:C565547
xref: NCI:C148260
is_a: DOID:0050593 ! primary congenital glaucoma
is_a: DOID:11212 ! hydrophthalmos

[Term]
id: DOID:11212
name: hydrophthalmos
def: "A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1135/ "DO"]
xref: EFO:1000968
xref: ICD10CM:Q15.0
xref: MESH:D006871
xref: NCI:C50648
is_a: DOID:0050593 ! primary congenital glaucoma
is_a: DOID:1067 ! open-angle glaucoma
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:11213
name: acute contagious conjunctivitis
def: "A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus. (DO)" [https://www.aafp.org/afp/1998/0215/p735.html "DO"]
synonym: "Contagious opthalmia" EXACT [SNOMEDCT_2005_07_31:399047004]
synonym: "Pink eye" EXACT [SNOMEDCT_2005_07_31:267734002]
synonym: "Pinkeye" EXACT [SNOMEDCT_2005_07_31:399219006]
xref: NCI:C35704
xref: RDO:9003083
is_a: DOID:11184 ! acute conjunctivitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11217
name: chronic tympanitis
xref: ICD10CM:H73.1
xref: ICD9CM:384.1
is_a: DOID:5782 ! tympanic membrane disease

[Term]
id: DOID:11219
name: conjunctival folliculosis
def: "An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae. (DO)" [https://www.ajo.com/article/S0002-9394(21)90838-9/abstract "DO"]
synonym: "acute follicular conjunctivitis" EXACT [ICD9CM_2006:372.02]
xref: ICD10CM:H10.01
xref: ICD9CM:372.02
xref: RDO:9003084
is_a: DOID:11184 ! acute conjunctivitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11223
name: small intestine diverticulitis
synonym: "Diverticulosis of small intestine with hemorrhage" EXACT []
xref: RDO:9003925
is_a: DOID:7475 ! diverticulitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:11227
name: acute hemorrhagic conjunctivitis
def: "A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis. (DO)" [https://en.wikipedia.org/wiki/Acute_hemorrhagic_conjunctivitis "DO"]
synonym: "acute hemorrhagic conjunctivitides" EXACT []
synonym: "Apollo disease" EXACT []
synonym: "epidemic hemorrhagic conjunctivitis" EXACT []
xref: EFO:0007131
xref: ICD9CM:077.4
xref: MESH:D003232
xref: NCI:C34505
is_a: DOID:9000608 ! Viral Conjunctivitis
is_a: DOID:9006549 ! Enterovirus Infections

[Term]
id: DOID:1123
name: spondyloarthropathy
def: "Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." [MESH:D025242]
synonym: "spondarthropathy" EXACT []
synonym: "spondylarthrosis" EXACT []
synonym: "spondyloarthropathies" EXACT []
xref: EFO:0000706
xref: GARD:4971
xref: MESH:D025242
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:11230
name: acute orbital inflammation
synonym: "acute inflammation of orbit" EXACT [ICD9CM_2006:376.0]
xref: ICD10CM:H05.0
xref: ICD9CM:376.0
xref: RDO:9002989
is_a: DOID:930 ! orbital disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11231
name: orbital periostitis
def: "An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919808/ "DO"]
xref: ICD10CM:H05.03
xref: ICD9CM:376.02
xref: RDO:9002992
is_a: DOID:11230 ! acute orbital inflammation
is_a: DOID:9957 ! periostitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11232
name: orbital osteomyelitis
def: "An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249811/ "DO"]
xref: ICD10CM:H05.02
xref: ICD9CM:376.03
xref: RDO:9002990
is_a: DOID:11230 ! acute orbital inflammation
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11233
name: orbital tenonitis
def: "An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2884909/ "DO"]
synonym: "tenonitis" EXACT []
xref: ICD9CM:376.04
xref: RDO:9002994
is_a: DOID:11230 ! acute orbital inflammation
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11234
name: orbital cellulitis
def: "An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision. (DO)" [https://en.wikipedia.org/wiki/Tenonitis "DO"]
synonym: "Orbital Cellulitides" EXACT []
xref: EFO:1001076
xref: ICD10CM:H05.01
xref: ICD9CM:376.01
xref: MESH:D054517
xref: NCI:C99000
is_a: DOID:11230 ! acute orbital inflammation
is_a: DOID:3488 ! cellulitis
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:11235
name: adhesive otitis media
def: "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. (DO)" [https://en.wikipedia.org/wiki/Otitis_media#Adhesive_otitis_media "DO"]
synonym: "chronic adhesive otitis media" EXACT []
xref: ICD10CM:H74.1
xref: ICD9CM:385.1
xref: RDO:9004867
is_a: DOID:10754 ! otitis media
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:11239
name: appendix cancer
def: "A intestinal cancer that is located_in the appendix. (DO)" [http://en.wikipedia.org/wiki/Vermiform_appendix "DO"]
synonym: "appendiceal cancer" EXACT []
synonym: "cancer of appendix" EXACT []
synonym: "cancer of the appendix" EXACT []
synonym: "malignant neoplasm of appendix vermiformis" EXACT []
synonym: "malignant tumor of appendix" EXACT []
synonym: "malignant tumor of the appendix" EXACT []
xref: ICD10CM:C18.1
xref: ICD9CM:153.5
xref: NCI:C9333
is_a: DOID:10155 ! intestinal cancer
is_a: DOID:11240 ! appendiceal neoplasm
is_a: DOID:60000 ! appendix disease

[Term]
id: DOID:11240
name: appendiceal neoplasm
alt_id: RDO:0004891
def: "Tumors or cancer of the APPENDIX." [MESH:D001063]
synonym: "appendiceal neoplasms" EXACT []
synonym: "Appendix Adenoma" NARROW []
synonym: "appendix neoplasm" EXACT []
synonym: "Appendix Villous Adenoma" NARROW []
synonym: "neoplasm of appendix" EXACT []
xref: EFO:0003880
xref: EFO:1000089
xref: EFO:1000093
xref: MESH:D001063
xref: NCI:C4434
is_a: DOID:4610 ! intestinal benign neoplasm
is_a: DOID:9003694 ! Cecal Neoplasms

[Term]
id: DOID:11241
name: appendix lymphoma
synonym: "appendiceal lymphoma" EXACT []
xref: NCI:C5513
is_a: DOID:0060058 ! lymphoma
is_a: DOID:11239 ! appendix cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:11242
name: plethora of newborn
synonym: "neonatal polycythemia" EXACT []
xref: ICD10CM:P61.1
xref: ICD9CM:776.4
xref: NCI:C27069
xref: RDO:9002582
is_a: DOID:8432 ! polycythemia
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:11243
name: anemia of prematurity
def: "A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20463861/ "DO", https://www.nature.com/articles/s41372-021-00992-0 "DO"]
xref: ICD10CM:P61.2
xref: ICD9CM:776.6
xref: MONDO:0001239
xref: NCI:C97167
is_a: DOID:11244 ! neonatal anemia
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:11244
name: neonatal anemia
def: "An anemia that is characterized by a lower red blood cell count than normal in neonates. (DO)" [https://my.clevelandclinic.org/health/diseases/15698-anemia-in-newborns "DO"]
synonym: "anemia neonatorum" EXACT []
synonym: "neonatal anaemia" EXACT []
synonym: "neonatal anemias" EXACT []
xref: MESH:D000751
xref: MONDO:0001240
is_a: DOID:2355 ! anemia
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:11245
name: transient neonatal neutropenia
xref: ICD10CM:P61.5
xref: ICD9CM:776.7
is_a: DOID:1227 ! neutropenia
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:11246
name: DIC in newborn
synonym: "Disseminated intravascular coagulation in newborn" EXACT []
xref: ICD10CM:P60
xref: ICD9CM:776.2
xref: NCI:C111856
xref: RDO:9002937
is_a: DOID:11247 ! disseminated intravascular coagulation
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11247
name: disseminated intravascular coagulation
def: "A disorder characterized by procoagulant substances entering the general circulation causing a systemic thrombotic process. The activation of the clotting mechanism may arise from any of a number of disorders. A majority of the patients manifest skin lesions, sometimes leading to PURPURA FULMINANS." [MESH:D004211]
synonym: "Consumption Coagulopathies" EXACT []
synonym: "Consumption Coagulopathy" EXACT []
synonym: "Defibrination syndrome" EXACT [ICD9CM_2006:286.6]
synonym: "DIC" EXACT [NCI2004_11_17:C2992]
synonym: "DIC with the fibrinolytic phenotype" NARROW []
synonym: "Diffuse or disseminated intravascular coagulation" EXACT [MTHICD9_2006:286.6]
synonym: "Disseminated Intravascular Coagulations" EXACT []
xref: ICD9CM:286.6
xref: MESH:D004211
xref: NCI:C2992
xref: RDO:0001199
is_a: DOID:1247 ! blood coagulation disease
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:2452 ! thrombophilia

[Term]
id: DOID:11249
name: vitamin K deficiency bleeding
def: "A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications. (DO)" [https://en.wikipedia.org/wiki/Haemorrhagic_disease_of_the_newborn "DO", https://medlineplus.gov/ency/article/007320.htm "DO", https://www.cdc.gov/ncbddd/vitamink/facts.html "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592002/ "DO"]
synonym: "deficiency of vitamin K" EXACT []
synonym: "hemorrhagic disease of newborn" EXACT []
synonym: "newborn hemorrhagic disease" EXACT []
synonym: "newborn hemorrhagic diseases" EXACT []
synonym: "vitamin K deficiencies" EXACT []
synonym: "vitamin K deficiency" EXACT []
synonym: "vitamin K deficiency hemorrhagic disease" EXACT []
xref: EFO:1000964
xref: ICD10CM:E56.1
xref: ICD9CM:269.0
xref: MESH:D006475
xref: MESH:D014813
xref: NCI:C99108
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9004153 ! Infant Nutrition Disorders
is_a: DOID:9004644 ! Avitaminosis

[Term]
id: DOID:11252
name: microcytic anemia
def: "An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1578956/ "DO"]
synonym: "Anemia, Hypochromic Microcytic, with Defect in Iron Metabolism" EXACT []
synonym: "IRIDA" EXACT []
synonym: "Iron-Handling Disorder, Hereditary" EXACT []
synonym: "Iron-Refractory Iron Deficiency Anemia" EXACT []
synonym: "Pseudo-Iron-Deficiency Anemia" EXACT []
synonym: "TMPRSS6-RELATED CONDITION" EXACT []
xref: MESH:C562385
xref: MIM:206200
xref: MONDO:0001245
xref: NCI:C35141
is_a: DOID:2355 ! anemia

[Term]
id: DOID:11254
name: Brill-Zinsser disease
def: "An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. (DO)" [http://en.wikipedia.org/wiki/Epidemic_typhus "DO"]
synonym: "Brill's disease" EXACT [ICD9CM_2006:081.1]
synonym: "Brill disease" EXACT []
synonym: "Brills disease" EXACT []
synonym: "latent typhus" RELATED []
synonym: "recrudescent typhus" EXACT [MTHICD9_2006:081.1]
synonym: "sporadic typhus" RELATED []
xref: EFO:0007182
xref: ICD10CM:A75.1
xref: ICD9CM:081.1
xref: RDO:9002599
is_a: DOID:0050480 ! epidemic typhus
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:11256
name: typhus
def: "A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites. (DO)" [https://en.wikipedia.org/wiki/Typhus "DO"]
synonym: "classical typhus" RELATED []
synonym: "European typhus" RELATED []
synonym: "exanthematic typhus fever" EXACT []
synonym: "exanthematous typhus" RELATED []
synonym: "famine fever" RELATED []
synonym: "flea typhus" EXACT []
synonym: "Hospital fever" RELATED []
synonym: "louse-borne [epidemic] typhus" EXACT []
synonym: "Mexican typhus" RELATED []
synonym: "Moscow typhus" EXACT []
synonym: "Petechial fever" RELATED []
synonym: "Prison fever" RELATED []
synonym: "rat flea typhus" RELATED []
synonym: "ship fever" RELATED []
synonym: "shop typhus" RELATED []
synonym: "typhus exanthematique" RELATED []
synonym: "typhus fever" EXACT []
xref: EFO:0009117
xref: GARD:7833
xref: ICD10CM:A75.0
xref: ICD10CM:A75.2
xref: ICD10CM:A75.9
xref: ICD9CM:080
xref: ICD9CM:081.0
xref: ICD9CM:081.9
xref: NCI:C84689
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9007347 ! Rickettsia Infections
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:11257
name: social phobia
def: "A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. (DO)" [http://en.wikipedia.org/wiki/Social_phobia "DO"]
synonym: "social anxiety disorder" EXACT []
synonym: "social anxiety disorders" EXACT []
synonym: "social evaluation fear" EXACT []
synonym: "social evaluation phobia" EXACT []
synonym: "social phobias" EXACT []
synonym: "sociophobia" EXACT []
synonym: "sociophobias" EXACT []
xref: EFO:1001917
xref: ICD10CM:F40.1
xref: ICD9CM:300.23
xref: MESH:D000072861
xref: NCI:C34927
is_a: DOID:591 ! phobic disorder

[Term]
id: DOID:11258
name: cat-scratch disease
def: "A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. (DO)" [http://en.wikipedia.org/wiki/Cat_scratch_disease "DO", http://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html# "DO"]
synonym: "benign lymphoreticulosis" EXACT []
synonym: "catscratch disease" EXACT []
synonym: "cat scratch fever" EXACT []
synonym: "Debre's Syndrome" EXACT []
synonym: "Debre-Mollaret Syndrome" EXACT []
synonym: "Foshay-Mollaret Cat Scratch Fever" EXACT []
synonym: "inoculation lymphoreticuloses" EXACT []
synonym: "Inoculation Lymphoreticulosis" EXACT []
synonym: "inoculative lymphoreticuloses" EXACT []
synonym: "inoculative lymphoreticulosis" EXACT []
xref: EFO:0007195
xref: ICD10CM:A28.1
xref: ICD9CM:078.3
xref: MESH:D002372
xref: NCI:C84620
is_a: DOID:11102 ! bartonellosis
is_a: DOID:1602 ! lymphadenitis

[Term]
id: DOID:11260
name: rabies
def: "A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in Rabies virus, which is transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis. (DO)" [http://en.wikipedia.org/wiki/Rabies "DO", https://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/rabies "DO"]
synonym: "hydrophobia" EXACT []
synonym: "lyssa" EXACT []
synonym: "lyssas" EXACT []
xref: GARD:7516
xref: ICD10CM:A82
xref: ICD9CM:071
xref: MESH:D011818
xref: NCI:C28182
is_a: DOID:9008603 ! Rhabdoviridae Infections

[Term]
id: DOID:11262
name: ornithosis
def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. (DO)" [http://en.wikipedia.org/wiki/Psittacosis "DO"]
synonym: "ornithoses" EXACT []
synonym: "psittacoses" EXACT []
synonym: "psittacosis" EXACT []
xref: EFO:0007410
xref: ICD10CM:A70
xref: ICD9CM:073
xref: MESH:D009956
xref: NCI:C34873
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9008527 ! Chlamydophila Infections

[Term]
id: DOID:11263
name: chlamydia
def: "A commensal bacterial infectious disease that is caused by Chlamydia trachomatis. (DO)" [http://en.wikipedia.org/wiki/Chlamydia_infection "DO"]
synonym: "Chlamydia Infection" EXACT []
synonym: "chlamydia infections" EXACT []
synonym: "chlamydial disease" EXACT []
synonym: "chlamydial Infection" EXACT []
synonym: "chlamydia trachomatis infectious disease" EXACT []
xref: EFO:0007205
xref: MESH:D002690
is_a: DOID:0050339 ! commensal bacterial infectious disease
is_a: DOID:9006980 ! Bacterial Sexually Transmitted Diseases
is_a: DOID:9008090 ! Chlamydiaceae Infections
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:11265
name: trachoma
def: "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. (DO)" [http://en.wikipedia.org/wiki/Trachoma "DO", http://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm "DO", http://www.who.int/blindness/causes/priority/en/index2.html "DO"]
synonym: "active stage trachoma" EXACT []
synonym: "Egyptian ophthalmia" EXACT []
synonym: "trachoma dubium" EXACT []
synonym: "trachomas" EXACT []
xref: GARD:10374
xref: ICD10CM:A71
xref: ICD10CM:A71.0
xref: ICD10CM:A71.1
xref: ICD9CM:076
xref: ICD9CM:076.0
xref: ICD9CM:076.1
xref: MESH:D014141
is_a: DOID:0050339 ! commensal bacterial infectious disease
is_a: DOID:10124 ! corneal disease
is_a: DOID:11263 ! chlamydia
is_a: DOID:9700 ! bacterial conjunctivitis

[Term]
id: DOID:11266
name: Hantavirus hemorrhagic fever with renal syndrome
def: "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, has_material_basis_in Orthohantavirus hantanense, has_material_basis_in Orthohantavirus puumalaense, has_material_basis_in Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. (DO)" [http://whqlibdoc.who.int/bulletin/1983/Vol61-No2/bulletin_1983_61%282%29_269-275.pdf "DO", http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/hfrs.htm "DO", https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome "DO"]
synonym: "epidemic hemorrhagic fever" EXACT []
synonym: "epidemic hemorrhagic fevers" EXACT []
synonym: "hemorrhagic fever with renal syndrome" EXACT []
synonym: "hemorrhagic nephroso-nephritides" EXACT []
synonym: "hemorrhagic nephroso nephritis" EXACT []
synonym: "hemorrhagic nephrosonephritis" EXACT []
synonym: "HFRS" EXACT []
synonym: "Puumala virus nephropathy" EXACT []
synonym: "Russian hemorrhagic fever" EXACT []
xref: EFO:0007299
xref: ICD10CM:A98.5
xref: ICD9CM:078.6
xref: MESH:D006480
xref: NCI:C84753
is_a: DOID:225 ! syndrome
is_a: DOID:557 ! kidney disease
is_a: DOID:9007401 ! Viral Hemorrhagic Fevers
is_a: DOID:9007533 ! Hantavirus Infections

[Term]
id: DOID:11267
name: keratomalacia
synonym: "Retinol Deficiency" EXACT []
synonym: "Xerotic Keratitis" EXACT []
xref: GARD:6825
xref: ICD10CM:H18.44
xref: ICD9CM:371.45
xref: MESH:C536156
is_a: DOID:1237 ! corneal degeneration
is_a: DOID:9008550 ! Vitamin A Deficiency

[Term]
id: DOID:11269
name: chronic apical periodontitis
xref: ICD9CM:522.6
is_a: DOID:823 ! periapical periodontitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11277
name: Plummer's disease
synonym: "Plummer disease" EXACT []
synonym: "toxic nodular goiter" EXACT []
xref: EFO:0009191
xref: ICD10CM:E05.2
xref: ICD9CM:242.3
xref: NCI:C35171
is_a: DOID:7998 ! hyperthyroidism
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:11282
name: solar retinopathy
synonym: "solar retinitis" EXACT []
xref: ICD10CM:H31.02
xref: ICD9CM:363.31
is_a: DOID:11086 ! chorioretinal scar
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:11283
name: peripheral scars of retina
xref: ICD9CM:363.34
is_a: DOID:11086 ! chorioretinal scar
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:11285
name: tick paralysis
def: "A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. (DO)" [http://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm "DO", http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/10428629 "DO"]
synonym: "Tick Paralyses" EXACT []
xref: EFO:0007509
xref: GARD:7771
xref: MESH:D013985
is_a: DOID:4109 ! tick infestation
is_a: DOID:9007773 ! Tick Toxicoses

[Term]
id: DOID:11289
name: ventilation pneumonitis
def: "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. (DO)" [http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf "DO"]
synonym: "Air-conditioner and humidifier lung" EXACT [SNOMEDCT_2005_07_31:195990006]
synonym: "Humidifier lung" EXACT [SNOMEDCT_2005_07_31:48347002]
xref: ICD10CM:J67.7
xref: ICD9CM:495.7
xref: RDO:9002683
is_a: DOID:841 ! extrinsic allergic alveolitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:1129
name: pituitary apoplexy
def: "The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." [MESH:D010899]
xref: EFO:1001108
xref: MESH:D010899
xref: NCI:C26853
is_a: DOID:1130 ! pituitary infarct
is_a: DOID:9003104 ! Intracranial Hemorrhages

[Term]
id: DOID:11294
name: arteriovenous malformation
def: "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. (DO)" [http://en.wikipedia.org/wiki/Arteriovenous_malformation "DO"]
synonym: "arteriovenous hemangioma" EXACT []
synonym: "arteriovenous malformations" EXACT []
synonym: "cirsoid aneurysm" EXACT []
synonym: "racemose aneurysm" EXACT []
synonym: "racemose angioma" EXACT []
synonym: "racemose hemangioma" EXACT []
xref: ICD10CM:I77.0
xref: ICDO:9123/0
xref: MESH:D001165
xref: NCI:C2882
is_a: DOID:255 ! hemangioma
is_a: DOID:9003191 ! Vascular Malformations

[Term]
id: DOID:11295
name: retinal microaneurysm
def: "Aneurysm of the MICROVASCULATURE. Charcot?Bouchard aneurysms are aneurysms of the brain vasculature which is a common cause of CEREBRAL HEMORRHAGE. Retinal microaneurysm is an early diagnostic sign of DIABETIC RETINOPATHY." [MESH:D000071071]
synonym: "Charcot Bouchard Aneurysm" EXACT []
synonym: "Charcot Bouchard Aneurysms" EXACT []
synonym: "microaneurysm" EXACT []
synonym: "Microaneurysms" EXACT []
synonym: "Miliary Aneurysm" EXACT []
synonym: "Miliary Aneurysms" EXACT []
synonym: "Retinal Microaneurysms" EXACT []
xref: ICD9CM:362.14
xref: MESH:D000071071
xref: RDO:0016073
is_a: DOID:2462 ! retinal vascular disease
is_a: DOID:9001665 ! Aneurysm

[Term]
id: DOID:11299
name: vertebral artery occlusion
synonym: "occlusion and stenosis of vertebral artery" EXACT []
xref: ICD10CM:I65.0
xref: ICD9CM:433.2
xref: RDO:9004098
is_a: DOID:0050828 ! artery disease
is_a: DOID:5976 ! occlusion precerebral artery
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:1130
name: pituitary infarct
synonym: "pituitary infarction" EXACT []
xref: NCI:C27117
is_a: DOID:3646 ! necrosis of pituitary
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:11302
name: cercarial dermatitis
def: "A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection. (DO)" [https://en.wikipedia.org/wiki/Swimmer%27s_itch "DO", https://www.cdc.gov/parasites/swimmersitch/index.html "DO"]
synonym: "cutaneous schistosomiasis" EXACT []
synonym: "sea bather's eruption" EXACT []
xref: GARD:9747
xref: ICD10CM:B65.3
xref: ICD9CM:120.3
xref: NCI:C34457
xref: RDO:9002363
is_a: DOID:1395 ! schistosomiasis
is_a: DOID:37 ! skin disease
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:11312
name: Mobitz type II atrioventricular block
synonym: "Mobitz II atrioventricular block" EXACT [MTHICD9_2006:426.12]
xref: ICD9CM:426.12
xref: NCI:C62018
xref: RDO:9003342
is_a: DOID:0050822 ! second-degree atrioventricular block
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:11315
name: African histoplasmosis
def: "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions. (DO)" [http://www.cdc.gov/eid/content/13/11/1647.htm "DO"]
xref: ICD9CM:115.10
xref: RDO:9002327
is_a: DOID:1731 ! histoplasmosis
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:11316
name: histoplasmosis retinitis
synonym: "histoplasmosis with retinitis" EXACT []
xref: ICD9CM:115.92
xref: RDO:9002693
is_a: DOID:3612 ! retinitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:11320
name: Kyasanur forest disease
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems. (DO)" [http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm "DO"]
xref: GARD:8257
xref: ICD10CM:A98.2
xref: ICD9CM:065.2
xref: MESH:D007733
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9004146 ! Flavivirus Infections
is_a: DOID:9007401 ! Viral Hemorrhagic Fevers

[Term]
id: DOID:11328
name: schizophreniform disorder
def: "A psychotic disorder that involves schizophrenia symptoms over time period of one month. (DO)" [http://en.wikipedia.org/wiki/Schizophreniform_disorder "DO"]
synonym: "schizophreniform disorders" EXACT []
xref: ICD10CM:F20.81
xref: ICD9CM:295.4
xref: NCI:C94376
is_a: DOID:2468 ! psychotic disorder
is_a: DOID:9000439 ! Schizophrenia Spectrum and Other Psychotic Disorders
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:11329
name: ainhum
alt_id: MIM:103400
def: "A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. (DO)" [http://en.wikipedia.org/wiki/Ainhum "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ainhum "DO"]
synonym: "dactylolysis spontanea" EXACT []
synonym: "spontaneous dactylolyses" EXACT []
synonym: "spontaneous dactylolysis" EXACT []
xref: GARD:9512
xref: ICD10CM:L94.6
xref: ICD9CM:136.0
xref: MESH:D000387
xref: NCI:C84544
is_a: DOID:0080011 ! bone resorption disease

[Term]
id: DOID:11330
name: erysipelas
def: "An acute infection of the skin caused by species of STREPTOCOCCUS. This disease most frequently affects infants, young children, and the elderly. Characteristics include pink-to-red lesions that spread rapidly and are warm to the touch. The commonest site of involvement is the face." [MESH:D004886]
xref: EFO:1001462
xref: GARD:6370
xref: ICD10CM:A46
xref: ICD9CM:035
xref: MESH:D004886
is_a: DOID:2723 ! dermatitis
is_a: DOID:9003209 ! Bacterial Skin Diseases
is_a: DOID:9006844 ! Streptococcal Infections

[Term]
id: DOID:11335
name: sarcoidosis
alt_id: MIM:181000
alt_id: MIM:612387
alt_id: MIM:612388
def: "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. (DO)" [http://en.wikipedia.org/wiki/Sarcoidosis "DO", http://ghr.nlm.nih.gov/glossary=sarcoidosis "DO", http://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956 "DO"]
synonym: "Besnier Boeck disease" EXACT []
synonym: "Besnier Boeck Schaumann Syndrome" EXACT []
synonym: "Boeck's Disease" EXACT []
synonym: "Boeck's Sarcoid" EXACT []
synonym: "Boeck Disease" EXACT []
synonym: "Boeck Sarcoid" EXACT []
synonym: "Boecks Disease" EXACT []
synonym: "Boecks Sarcoid" EXACT []
synonym: "lymphogranulomatosis" EXACT []
synonym: "sarcoidoses" EXACT []
synonym: "sarcoidosis, susceptibility to, 1" RELATED []
synonym: "sarcoidosis, susceptibility to, 2" RELATED []
synonym: "sarcoidosis, susceptibility to, 3" RELATED []
synonym: "Schaumann's Syndrome" EXACT []
synonym: "Schaumann's syndromes" EXACT []
synonym: "Schaumann Disease" EXACT []
synonym: "Schaumann syndrome" EXACT []
synonym: "SS1" RELATED []
synonym: "SS2" RELATED []
synonym: "SS3" RELATED []
xref: EFO:0000690
xref: GARD:7607
xref: ICD10CM:D86
xref: ICD9CM:135
xref: MESH:D012507
xref: MONDO:0019338
xref: NCI:C34995
xref: ORDO:797
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:2916 ! hypersensitivity reaction type IV disease

[Term]
id: DOID:11336
name: rhinoscleroma
def: "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. (DO)" [http://en.wikipedia.org/wiki/Rhinoscleroma "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinoscleroma "DO"]
synonym: "nasal scleroma" EXACT []
synonym: "nasal scleromas" EXACT []
synonym: "rhinoscleromas" EXACT []
xref: EFO:0007470
xref: ICD9CM:040.1
xref: MESH:D012226
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:2825 ! nose disease
is_a: DOID:9003209 ! Bacterial Skin Diseases
is_a: DOID:9003828 ! Klebsiella Infections
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:11337
name: Lemierre's syndrome
def: "A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. (DO)" [http://en.wikipedia.org/wiki/Fusobacterium_necrophorum "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=necrobacillosis "DO"]
synonym: "acute sore throat" RELATED []
synonym: "human necrobacillosis" EXACT []
synonym: "Lemierre's disease" EXACT []
synonym: "Lemierre disease" EXACT []
synonym: "Lemierres disease" EXACT []
synonym: "Lemierres syndrome" EXACT []
synonym: "Lemierre syndrome" EXACT []
synonym: "postanginal sepses" EXACT []
synonym: "postanginal sepsis" EXACT []
xref: GARD:6882
xref: ICD9CM:040.3
xref: MESH:D057831
is_a: DOID:0050339 ! commensal bacterial infectious disease
is_a: DOID:3875 ! thrombophlebitis
is_a: DOID:9001724 ! Fusobacterium Infections
is_a: DOID:9004130 ! Pharyngeal Diseases

[Term]
id: DOID:11338
name: tetanus
alt_id: RDO:0006683
def: "A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. (DO)" [http://en.wikipedia.org/wiki/Tetanus "DO"]
synonym: "clostridial tetanus" EXACT []
synonym: "infection due to Clostridium tetani" EXACT []
xref: EFO:0005593
xref: GARD:5144
xref: ICD10CM:A35
xref: ICD9CM:037
xref: MESH:D013742
xref: NCI:C85185
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9006732 ! Clostridium Infections

[Term]
id: DOID:11339
name: pneumocystosis
def: "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pneumocystis%20carinii%20pneumonia "DO"]
synonym: "Pneumocystis carinii Pneumonia" EXACT []
synonym: "Pneumocystis jirovecii pneumonia" EXACT []
synonym: "Pneumocystis pneumonia" EXACT []
synonym: "Pneumocystis Pneumonias" EXACT []
synonym: "Pneumocystoses" EXACT []
synonym: "Pneumocystosis pneumonia" EXACT []
synonym: "Pneumonia, Interstitial Plasma Cell" EXACT []
synonym: "Pneumonias, Pneumocystis carinii" EXACT []
synonym: "pulmonary pneumocystosis" EXACT []
xref: EFO:0007448
xref: GARD:4386
xref: ICD10CM:B59
xref: ICD9CM:136.3
xref: MESH:D011020
xref: NCI:C3334
is_a: DOID:2473 ! opportunistic mycosis
is_a: DOID:552 ! pneumonia
is_a: DOID:9005724 ! Fungal Lung Diseases
is_a: DOID:9007019 ! Pneumocystis Infections

[Term]
id: DOID:1134
name: gingival recession
def: "Exposure of the root surface when the edge of the gum (GINGIVA) moves apically away from the crown of the tooth. This is common with advancing age, vigorous tooth brushing, diseases, or tissue loss of the gingiva, the PERIODONTAL LIGAMENT and the supporting bone (ALVEOLAR PROCESS)." [MESH:D005889]
synonym: "Atrophy of Gingiva" EXACT []
synonym: "gingiva atrophies" EXACT []
synonym: "Gingiva Atrophy" EXACT []
synonym: "gingival atrophies" EXACT []
synonym: "gingival atrophy" EXACT []
synonym: "gingival recessions" EXACT []
synonym: "localized gingival recession" NARROW []
synonym: "minimal gingival recession" NARROW []
synonym: "moderate gingival recession" NARROW []
synonym: "severe gingival recession" NARROW []
xref: ICD10CM:K06.0
xref: ICD10CM:K06.01
xref: ICD9CM:523.2
xref: ICD9CM:523.24
xref: MESH:D005889
xref: MONDO:0001268
xref: NCI:C82068
is_a: DOID:1483 ! gingival disease
is_a: DOID:9005858 ! Periodontal Atrophy

[Term]
id: DOID:11342
name: arcus senilis
alt_id: MIM:107800
def: "A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." [MESH:D001112]
synonym: "Arcus Corneae" EXACT []
synonym: "arcus of cornea" EXACT []
synonym: "Corneal Arcus" EXACT []
xref: EFO:1000818
xref: ICD10CM:H18.41
xref: MESH:D001112
is_a: DOID:1237 ! corneal degeneration
is_a: DOID:9008606 ! Corneal Opacity

[Term]
id: DOID:11343
name: scleral disease
def: "An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C79717 "DO"]
synonym: "sclera disease" EXACT []
synonym: "sclera diseases" EXACT []
synonym: "scleral diseases" EXACT []
xref: ICD10CM:H15
xref: MESH:D015422
xref: NCI:C79717
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:11353
name: bladder diverticulum
alt_id: MIM:109820
synonym: "diverticulum of bladder" EXACT []
xref: ICD10CM:N32.3
xref: ICD9CM:596.3
xref: MESH:C562406
xref: NCI:C160155
is_a: DOID:365 ! bladder disease
is_a: DOID:9001008 ! Diverticulum

[Term]
id: DOID:11354
name: stone in bladder diverticulum
synonym: "calculus in diverticulum of bladder" EXACT []
xref: ICD9CM:594.0
is_a: DOID:11353 ! bladder diverticulum
is_a: DOID:11355 ! bladder calculus
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11355
name: bladder calculus
def: "Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths." [MESH:D001744]
synonym: "bladder calculi" EXACT []
synonym: "Bladder Stone" EXACT []
synonym: "bladder stones" EXACT []
synonym: "Calculi of Urinary Bladder" EXACT []
synonym: "Cystolith" EXACT []
synonym: "Cystoliths" EXACT []
synonym: "Urinary Bladder Calculi" EXACT []
synonym: "Urinary Bladder Calculus" EXACT []
synonym: "Urinary Bladder Stone" EXACT []
synonym: "Urinary Bladder Stones" EXACT []
synonym: "vesical calculi" EXACT []
synonym: "vesical calculus" EXACT []
xref: EFO:1000839
xref: ICD10CM:N21.0
xref: MESH:D001744
is_a: DOID:365 ! bladder disease
is_a: DOID:9590 ! lower urinary tract calculus

[Term]
id: DOID:11360
name: Phlebotomus fever
def: "A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia. (DO)" [http://en.wikipedia.org/wiki/Pappataci_fever "DO"]
synonym: "Pappataci Fever" EXACT []
synonym: "Pappataci Fevers" EXACT []
synonym: "Phlebotomus Fevers" EXACT []
synonym: "sandfly-borne arboviral fever" EXACT []
synonym: "sandfly-borne bunyavirus fever" EXACT []
synonym: "sandfly-borne phleboviral disease" EXACT []
synonym: "Sandfly Fever" EXACT []
synonym: "Sandfly Fevers" EXACT []
xref: EFO:0007437
xref: ICD10CM:A93.1
xref: ICD9CM:066.0
xref: MESH:D010217
is_a: DOID:9004137 ! Bunyaviridae Infections
is_a: DOID:9007579 ! Arbovirus Infections

[Term]
id: DOID:11364
name: lens subluxation
def: "Incomplete rupture of the zonule with the displaced lens remaining behind the pupil. In dislocation, or complete rupture, the lens is displaced forward into the anterior chamber or backward into the vitreous body. When congenital, this condition is known as ECTOPIA LENTIS." [MESH:D007906]
synonym: "Lens Dislocation" EXACT []
synonym: "Lens Dislocation and Subluxation" EXACT []
synonym: "Lens Dislocations" EXACT []
synonym: "Lens Subluxations" EXACT []
synonym: "Subluxation of lens" EXACT [ICD9CM_2006:379.32]
xref: ICD10CM:H27.11
xref: ICD9CM:379.32
xref: MESH:D007906
xref: NCI:C34772
xref: RDO:0005444
is_a: DOID:110 ! lens disease

[Term]
id: DOID:11367
name: congenital aphakia
synonym: "congenital absence of lens" EXACT []
synonym: "congenital primary aphakia" EXACT []
synonym: "CPA" EXACT []
synonym: "CPAK" EXACT []
xref: ICD10CM:Q12.3
xref: ICD9CM:743.35
xref: MESH:C537786
xref: NCI:C35172
is_a: DOID:0080015 ! physical disorder
is_a: DOID:0080607 ! anterior segment dysgenesis 2
is_a: DOID:9008804 ! Aphakia

[Term]
id: DOID:11371
name: functional diarrhea
synonym: "functional diarrhoea" EXACT []
xref: ICD10CM:K59.1
xref: ICD9CM:564.5
is_a: DOID:13250 ! diarrhea
is_a: DOID:5353 ! colonic disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:11372
name: megacolon
def: "A colonic disease that is characterized by an abnormal dilation of the colon. (DO)" [http://en.wikipedia.org/wiki/Megacolon "DO"]
synonym: "dilatation of colon" EXACT []
synonym: "megacolons" EXACT []
xref: ICD10CM:K59.39
xref: MESH:D008531
xref: NCI:C34810
is_a: DOID:5353 ! colonic disease

[Term]
id: DOID:11374
name: anal spasm
xref: ICD10CM:K59.4
xref: ICD9CM:564.6
is_a: DOID:3128 ! anus disease

[Term]
id: DOID:11379
name: gnathomiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm "DO"]
synonym: "gnathostoma infection" EXACT []
synonym: "gnathostoma infections" EXACT []
synonym: "gnathostomiases" EXACT []
synonym: "gnathostomiasis" EXACT []
synonym: "infectious disease by gnathostoma" EXACT []
xref: EFO:0007289
xref: GARD:9286
xref: ICD10CM:B83.1
xref: ICD9CM:128.1
xref: MESH:D058429
xref: NCI:C128395
is_a: DOID:9003105 ! Spirurida Infections

[Term]
id: DOID:1138
name: spinal meningioma
synonym: "spinal cord meningioma" EXACT []
xref: GARD:10264
xref: NCI:C6935
is_a: DOID:1140 ! spinal canal and spinal cord meningioma
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:11382
name: corneal neovascularization
def: "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." [MESH:D016510]
synonym: "Corneal Angiogenesis" EXACT []
synonym: "Corneal Neovascularizations" EXACT []
xref: EFO:1000880
xref: ICD10CM:H16.4
xref: ICD9CM:370.6
xref: MESH:D016510
xref: RDO:0006962
is_a: DOID:10124 ! corneal disease
is_a: DOID:4677 ! keratitis
is_a: DOID:9002493 ! Ocular Neovascularization

[Term]
id: DOID:11383
name: cryptorchidism
alt_id: MIM:219050
def: "A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis." [MESH:D003456]
synonym: "Abdominal Cryptorchidism" EXACT []
synonym: "Bilateral Cryptorchidism" EXACT []
synonym: "Cryptorchidism, Unilateral Or Bilateral" EXACT []
synonym: "Cryptorchism" EXACT []
synonym: "Inguinal Cryptorchidism" EXACT []
synonym: "Undescended Testes" EXACT []
synonym: "undescended testicle" EXACT []
synonym: "undescended testicles" EXACT []
synonym: "Undescended Testis" EXACT []
synonym: "Unilateral Cryptorchidism" EXACT []
xref: EFO:0004562
xref: ICD10CM:Q53.9
xref: ICD9CM:752.51
xref: MESH:D003456
xref: NCI:C12326
is_a: DOID:1923 ! disorder of sexual development
is_a: DOID:2519 ! testicular disease

[Term]
id: DOID:11385
name: expressive language disorder
def: "A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. (DO)" [http://en.wikipedia.org/wiki/Expressive_language_disorder "DO"]
synonym: "Developmental expressive language disorder" EXACT [SNOMEDCT_2005_07_31:268734000]
xref: ICD10CM:F80.1
xref: ICD9CM:315.31
xref: NCI:C92562
xref: RDO:9003879
is_a: DOID:93 ! language disorder
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:11387
name: epidural abscess
def: "A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001416.htm "DO"]
synonym: "Cranial Epidural Abscess" EXACT []
synonym: "Cranial Extradural Abscess" EXACT []
synonym: "Extradural Abscess" EXACT []
synonym: "Intracranial Epidural Abscess" EXACT []
synonym: "Intracranial Extradural Abscess" EXACT []
synonym: "intracranial extradural abscesses" EXACT []
synonym: "Spinal Epidural Abscess" EXACT []
synonym: "spinal extradural abscess" EXACT []
xref: EFO:0007260
xref: MESH:D020802
is_a: DOID:319 ! spinal cord disease
is_a: DOID:331 ! central nervous system disease
is_a: DOID:9000025 ! Central Nervous System Infections
is_a: DOID:9000325 ! Abscess
is_a: DOID:9006960 ! Perimeningeal Infections

[Term]
id: DOID:11389
name: subdural empyema
def: "A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space. (DO)" [https://en.wikipedia.org/wiki/Subdural_empyema "DO"]
synonym: "subdural abscess" EXACT []
synonym: "subdural abscess, intracranial" EXACT []
synonym: "subdural empyemas" EXACT []
xref: EFO:1001196
xref: MESH:D013354
is_a: DOID:9004425 ! Empyema
is_a: DOID:9006960 ! Perimeningeal Infections

[Term]
id: DOID:11390
name: cerebral arteritis
xref: ICD9CM:437.4
is_a: DOID:525 ! central nervous system vasculitis
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:11394
name: adult respiratory distress syndrome
def: "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=adult+respiratory+distress+syndrome "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392788/ "DO"]
synonym: "Acute Respiratory Distress Syndrome" EXACT []
synonym: "adult RDS" EXACT []
synonym: "ARDS" EXACT []
synonym: "ARDSs, Human" EXACT []
synonym: "Human ARDS" EXACT []
synonym: "non-cardiogenic pulmonary edema" EXACT []
synonym: "Shock Lung" EXACT []
xref: EFO:1000637
xref: GARD:5698
xref: ICD10CM:J80
xref: MESH:D012128
xref: NCI:C3353
is_a: DOID:11162 ! respiratory failure
is_a: DOID:225 ! syndrome
is_a: DOID:850 ! lung disease
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:11396
name: pulmonary edema
def: "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11357010/ "DO"]
synonym: "Pulmonary Edemas" EXACT []
synonym: "Wet Lung" EXACT []
synonym: "Wet Lungs" EXACT []
xref: EFO:1001134
xref: ICD10CM:J81
xref: ICD10CM:J81.1
xref: MESH:D011654
xref: MONDO:0006932
xref: NCI:C26868
is_a: DOID:11162 ! respiratory failure

[Term]
id: DOID:114
name: heart disease
def: "A cardiovascular system disease that involves the heart. (DO)" [http://en.wikipedia.org/wiki/Heart_disease "DO"]
synonym: "Abnormal cardiac atrium morphology" NARROW []
synonym: "cardiac disease" EXACT []
synonym: "cardiac diseases" EXACT []
synonym: "heart diseases" EXACT []
xref: EFO:0003777
xref: HP:0005120
xref: ICD10CM:I51.9
xref: ICD9CM:429.9
xref: MESH:D006331
xref: NCI:C3079
is_a: DOID:1287 ! cardiovascular system disease

[Term]
id: DOID:1140
name: spinal canal and spinal cord meningioma
xref: NCI:C5134
is_a: DOID:3565 ! meningioma
is_a: DOID:5612 ! spinal cancer

[Term]
id: DOID:11400
name: pyelonephritis
def: "Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA." [MESH:D011704]
synonym: "Necrotizing Pyelonephritis" EXACT []
synonym: "Pyelonephritides" EXACT []
synonym: "Pyelonephritis, Acute Necrotizing" EXACT []
xref: EFO:1001141
xref: ICD10CM:N16
xref: ICD9CM:590.80
xref: MESH:D011704
xref: NCI:C34965
is_a: DOID:1063 ! interstitial nephritis
is_a: DOID:2744 ! pyelitis

[Term]
id: DOID:11401
name: xanthogranulomatous pyelonephritis
def: "A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES." [MESH:D011705]
synonym: "Xanthogranulomatous Pyelonephritides" EXACT []
xref: EFO:1001244
xref: MESH:D011705
xref: NCI:C123038
is_a: DOID:1076 ! chronic pyelonephritis
is_a: DOID:11400 ! pyelonephritis

[Term]
id: DOID:11405
name: diphtheria
def: "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. (DO)" [http://en.wikipedia.org/wiki/Diphtheria "DO"]
synonym: "corynebacterium infection" EXACT []
synonym: "diphtherias" EXACT []
xref: EFO:0005549
xref: GARD:1875
xref: MESH:D004165
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9003413 ! Corynebacterium Infections

[Term]
id: DOID:11406
name: choroiditis
def: "Inflammation of the choroid." [MESH:D002833]
synonym: "choroiditides" EXACT []
xref: GARD:6062
xref: ICD10CM:H30.9
xref: MESH:D002833
is_a: DOID:12574 ! posterior uveitis
is_a: DOID:1417 ! choroid disease

[Term]
id: DOID:1142
name: alternating exotropia
xref: ICD10CM:H50.15
xref: ICD9CM:378.15
is_a: DOID:1143 ! exotropia
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:11424
name: fallopian tube endometriosis
def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"]
synonym: "endometriosis of fallopian tube" EXACT []
xref: ICD10CM:N80.2
xref: ICD9CM:617.2
xref: NCI:C26763
is_a: DOID:1962 ! fallopian tube disease
is_a: DOID:289 ! endometriosis
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:11427
name: endosalpingiosis
def: "A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube. (DO)" [https://en.wikipedia.org/wiki/Endosalpingiosis "DO"]
xref: NCI:C179646
xref: NCI:C40121
is_a: DOID:289 ! endometriosis
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:11428
name: endometriosis of intestine
def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653346/ "DO"]
xref: ICD10CM:N80.5
xref: ICD9CM:617.5
is_a: DOID:289 ! endometriosis
is_a: DOID:5295 ! intestinal disease
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:11429
name: endometriosis of pelvic peritoneum
def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"]
xref: ICD10CM:N80.3
xref: ICD9CM:617.3
is_a: DOID:289 ! endometriosis
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:1143
name: exotropia
def: "A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction." [MESH:D005099]
synonym: "divergent concomitant strabismus" EXACT []
synonym: "divergent strabismus" EXACT []
synonym: "exodeviation" EXACT []
synonym: "exodeviations" EXACT []
synonym: "exophoria" EXACT []
synonym: "primary exotropia" EXACT []
synonym: "secondary exotropia" EXACT []
xref: ICD10CM:H50.1
xref: ICD9CM:378.1
xref: MESH:D005099
xref: NCI:C34601
is_a: DOID:540 ! strabismus

[Term]
id: DOID:11430
name: endometriosis in scar of skin
def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"]
xref: ICD10CM:N80.6
xref: ICD9CM:617.6
is_a: DOID:289 ! endometriosis
is_a: DOID:37 ! skin disease
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:11431
name: endometriosis of rectovaginal septum and vagina
def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"]
xref: ICD10CM:N80.4
xref: ICD9CM:617.4
is_a: DOID:289 ! endometriosis
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:11432
name: endometriosis of ovary
def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"]
synonym: "ovarian endometriosis" EXACT []
xref: EFO:1000418
xref: ICD10CM:N80.1
xref: ICD9CM:617.1
xref: NCI:C27628
is_a: DOID:1100 ! ovarian disease
is_a: DOID:289 ! endometriosis
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:11446
name: sciatic neuropathy
def: "Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" [MESH:D020426]
synonym: "Sciatic Inflammatory Neuropathy" RELATED []
synonym: "Sciatic Nerve Disease" EXACT []
synonym: "sciatic nerve diseases" EXACT []
synonym: "Sciatic Nerve Injuries" EXACT []
synonym: "Sciatic Nerve Injury" EXACT []
synonym: "Sciatic Nerve Neuralgia-Neuritides" EXACT []
synonym: "Sciatic Nerve Neuralgia-Neuritis" EXACT []
synonym: "Sciatic Nerve Palsies" EXACT []
synonym: "Sciatic Nerve Palsy" EXACT []
synonym: "Sciatic Neuritides" EXACT []
synonym: "Sciatic Neuritis" EXACT []
synonym: "sciatic neuropathies" EXACT []
xref: EFO:1001166
xref: MESH:D020426
is_a: DOID:12528 ! lesion of sciatic nerve

[Term]
id: DOID:11450
name: allergic cutaneous vasculitis
def: "A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. (DO)" [https://medlineplus.gov/ency/article/000874.htm "DO"]
synonym: "allergic cutaneous angiitides" EXACT []
synonym: "Allergic Cutaneous Angiitis" EXACT []
synonym: "allergic cutaneous vasculitides" EXACT []
synonym: "autoimmune hypersensitivity angiitis" EXACT []
synonym: "Cutaneous Leukocytoclastic Angiitides" EXACT []
synonym: "Cutaneous Leukocytoclastic Angiitis" EXACT []
synonym: "Cutaneous Leukocytoclastic Vasculitides" EXACT []
synonym: "cutaneous leukocytoclastic vasculitis" EXACT []
synonym: "hypersensitivity angiitides" EXACT []
synonym: "hypersensitivity angiitis" EXACT []
xref: MESH:D018366
is_a: DOID:37 ! skin disease
is_a: DOID:9809 ! hypersensitivity vasculitis

[Term]
id: DOID:11452
name: perinatal jaundice due to hepatocellular damage
xref: EFO:1000750
xref: ICD9CM:774.4
is_a: DOID:2383 ! neonatal jaundice
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:11457
name: brain compression
def: "A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain. (DO)" [https://en.wikipedia.org/wiki/Brain_herniation "DO"]
synonym: "cerebellar compression" NARROW []
synonym: "cerebral compression" NARROW []
xref: ICD10CM:G93.5
xref: ICD9CM:348.4
is_a: DOID:9000998 ! Brain Injuries
is_a: DOID:9005214 ! Anatomical Pathological Conditions
is_a: DOID:936 ! brain disease
created_by: rgd
creation_date: 2017-01-30T00:00:00Z

[Term]
id: DOID:11459
name: pseudotumor cerebri
alt_id: MIM:243200
def: "A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." [MESH:D011559]
synonym: "benign intracranial hypertension" EXACT []
synonym: "idiopathic intracranial hypertension" EXACT []
xref: EFO:1001132
xref: GARD:4561
xref: ICD10CM:G93.2
xref: ICD9CM:348.2
xref: MESH:D011559
xref: NCI:C85035
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9428 ! intracranial hypertension

[Term]
id: DOID:11465
name: autonomic nervous system disease
def: "A peripheral nervous system disease that is located_in the autonomic nervous system. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27339825/ "DO", MESH:D001342]
synonym: "ANS (autonomic nervous system) diseases" EXACT []
synonym: "ANS Disease" EXACT []
synonym: "ANS diseases" EXACT []
synonym: "Autonomic Central Nervous System Diseases" EXACT []
synonym: "Autonomic Disease" EXACT []
synonym: "Autonomic Diseases" EXACT []
synonym: "autonomic nervous system diseases" EXACT []
synonym: "autonomic nervous system disorder" EXACT []
synonym: "Autonomic Nervous System Disorders" EXACT []
synonym: "AUTONOMIC NERVOUS SYSTEM DYSFUNCTION" EXACT []
synonym: "Autonomic Peripheral Nervous System Diseases" EXACT []
synonym: "Disorders of the Autonomic Nervous System" EXACT []
synonym: "parasympathetic nervous system diseases" EXACT []
synonym: "segmental autonomic dysfunction" EXACT []
synonym: "segmental autonomic dysfunctions" EXACT []
synonym: "sympathetic nervous system diseases" EXACT []
xref: EFO:0009532
xref: ICD9CM:337.1
xref: MESH:D001342
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:11472
name: subglottis cancer
synonym: "Ca larynx - subglottis" EXACT []
synonym: "malignant subglottic tumor" EXACT []
synonym: "malignant tumor of subglottis" EXACT [SNOMEDCT_2005_07_31:363430007]
xref: ICD10CM:C32.2
xref: ICD9CM:161.2
xref: NCI:C3546
is_a: DOID:2596 ! larynx cancer

[Term]
id: DOID:11476
name: osteoporosis
alt_id: MIM:166710
def: "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. (DO)" [http://en.wikipedia.org/wiki/Osteoporosis "DO", http://www.mayoclinic.com/health/osteoporosis/DS00128 "DO", http://www.niams.nih.gov/Health_Info/Bone/default.asp "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000360.htm "DO"]
synonym: "age-related bone loss" EXACT []
synonym: "age-related bone losses" EXACT []
synonym: "age-related osteoporoses" EXACT []
synonym: "age related osteoporosis" EXACT []
synonym: "FRACTURE, HIP, SUSCEPTIBILITY TO" RELATED []
synonym: "involutional osteoporosis" EXACT []
synonym: "LRP5-RELATED PRIMARY OSTEOPOROSIS" NARROW []
synonym: "Osteoporoses" EXACT []
synonym: "OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO" RELATED []
synonym: "OSTEOPOROSIS, SUSCEPTIBILITY TO" RELATED []
synonym: "post-traumatic osteoporoses" EXACT []
synonym: "post-traumatic osteoporosis" EXACT []
synonym: "senile osteoporoses" EXACT []
synonym: "senile osteoporosis" EXACT []
synonym: "WNT1-RELATED CONDITION" BROAD []
synonym: "X-LINKED OSTEOPOROSIS WITH FRACTURES" NARROW []
xref: EFO:0003882
xref: ICD10CM:M81.0
xref: ICD9CM:733.0
xref: MESH:D010024
xref: NCI:C3298
is_a: DOID:0080011 ! bone resorption disease
is_a: DOID:9002278 ! Metabolic Bone Diseases
is_a: DOID:9007801 ! Diseases of the Aged

[Term]
id: DOID:1148
name: polydactyly
alt_id: MIM:603596
def: "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot. (DO)" [https://en.wikipedia.org/wiki/Polydactyly "DO"]
synonym: "hyperdactylies" EXACT []
synonym: "hyperdactyly" EXACT []
synonym: "Polydactylia" EXACT []
synonym: "polydactylias" EXACT []
synonym: "polydactylies" EXACT []
synonym: "polydactylism" EXACT []
synonym: "polydactylisms" EXACT []
synonym: "supernumerary digit" RELATED []
xref: GARD:4410
xref: ICD10CM:Q69
xref: ICD10CM:Q69.9
xref: ICD9CM:755.0
xref: MESH:D017689
xref: NCI:C87110
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:11481
name: constrictive pericarditis
def: "Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." [MESH:D010494]
synonym: "Constrictive Pericarditides" EXACT []
synonym: "Heart Pick's Disease" EXACT []
synonym: "Pick's Disease of Heart" EXACT []
synonym: "Pick Disease, Heart" EXACT []
synonym: "Pick Disease of Heart" EXACT []
synonym: "Picks Disease, Heart" EXACT []
xref: EFO:1000878
xref: ICD9CM:423.2
xref: MESH:D010494
xref: NCI:C78246
is_a: DOID:1787 ! pericarditis

[Term]
id: DOID:11482
name: hemopericardium
def: "A pericardial effusion that results from blood in the pericardial sac. (DO)" [http://en.wikipedia.org/wiki/Hemopericardium "DO"]
synonym: "haemopericardium" EXACT []
xref: EFO:0007298
xref: ICD9CM:423.0
xref: NCI:C111644
is_a: DOID:118 ! pericardial effusion
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:11486
name: Horner's syndrome
alt_id: MIM:143000
def: "An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14610154/ "DO"]
synonym: "Acquired Horner Syndrome" EXACT []
synonym: "Bernard's Syndrome" EXACT []
synonym: "Bernard Horner syndrome" EXACT []
synonym: "Bernards Syndrome" EXACT []
synonym: "Bernard Syndrome" EXACT []
synonym: "Bernard Syndromes" EXACT []
synonym: "Central Horner Syndrome" EXACT []
synonym: "cervical sympathetic paralysis" EXACT []
synonym: "Claude Bernard Horner Syndrome" EXACT []
synonym: "Horners Syndrome" EXACT []
synonym: "Horners Syndrome, Pupil" EXACT []
synonym: "Horner syndrome" EXACT []
synonym: "Horner Syndrome, Pupil" EXACT []
synonym: "Miosis, Innervational Defect" EXACT []
synonym: "Oculosympathetic Syndrome" EXACT []
synonym: "Oculosympathetic Syndromes" EXACT []
synonym: "Ptosis Sympathetic" EXACT []
synonym: "Pupil Horner's Syndrome" EXACT []
synonym: "Sympathetic Ocular Ophthalmoplegia" EXACT []
synonym: "Sympathetic Ocular Ophthalmoplegias" EXACT []
xref: GARD:6670
xref: ICD10CM:G90.2
xref: MESH:D006732
xref: NCI:C28155
is_a: DOID:11504 ! autonomic neuropathy
is_a: DOID:225 ! syndrome
is_a: DOID:9003165 ! Miosis

[Term]
id: DOID:11488
name: idiopathic peripheral autonomic neuropathy
xref: ICD10CM:G90.0
xref: ICD9CM:337.0
is_a: DOID:11465 ! autonomic nervous system disease
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:11491
name: acquired night blindness
def: "A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated. (DO)" [https://en.wikipedia.org/wiki/Nyctalopia "DO", https://en.wikipedia.org/wiki/Vitamin_A_deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/25804276 "DO"]
xref: ICD10CM:H53.62
xref: ICD9CM:368.62
is_a: DOID:5113 ! nutritional deficiency disease
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:115
name: cardiac tamponade
def: "A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. (DO)" [http://en.wikipedia.org/wiki/Cardiac_tamponade "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000194.htm "DO"]
synonym: "cardiac tamponades" EXACT []
synonym: "Pericardial Tamponade" EXACT []
synonym: "pericardial tamponades" EXACT []
synonym: "Rose's tamponade" EXACT []
xref: EFO:1001285
xref: ICD10CM:I31.4
xref: ICD9CM:423.3
xref: MESH:D002305
xref: NCI:C50481
is_a: DOID:118 ! pericardial effusion

[Term]
id: DOID:11502
name: mitral valve insufficiency
def: "Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation." [MESH:D008944]
synonym: "congenital insufficiency of mitral valve" EXACT []
synonym: "congenital mitral insufficiency" EXACT []
synonym: "congenital mitral malformation" EXACT []
synonym: "congenital mitral regurgitation" EXACT []
synonym: "mitral incompetence" EXACT []
synonym: "mitral insufficiency" EXACT []
synonym: "mitral regurgitation" EXACT []
synonym: "mitral valve incompetence" EXACT []
synonym: "mitral valve regurgitation" EXACT []
xref: EFO:0009539
xref: ICD10CM:Q23.3
xref: ICD9CM:396.3
xref: ICD9CM:746.6
xref: MESH:D008944
xref: NCI:C50852
xref: NCI:C50888
is_a: DOID:61 ! mitral valve disease

[Term]
id: DOID:11503
name: diabetic autonomic neuropathy
synonym: "diabetic autonomic neuropathies" EXACT []
xref: EFO:1000783
xref: NCI:C27068
is_a: DOID:11504 ! autonomic neuropathy
is_a: DOID:9743 ! diabetic neuropathy
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:11504
name: autonomic neuropathy
xref: NCI:C27033
is_a: DOID:11465 ! autonomic nervous system disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:11506
name: suppurative otitis media
def: "A otitis media which involves inflammation of the middle ear with infected effusion containing pus. (DO)" [http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA129&lpg#v=onepage&q=&f=false "DO"]
synonym: "otitis media with effusion - purulent" EXACT []
synonym: "Purulent Otitis Media" EXACT []
xref: EFO:0007503
xref: ICD10CM:H66.4
xref: ICD9CM:382.4
xref: MESH:D010035
is_a: DOID:10754 ! otitis media
is_a: DOID:9005889 ! Suppuration

[Term]
id: DOID:11507
name: rumination disorder
alt_id: MESH:D019959
def: "An eating disorder that is characterized by effortless regurgitation of most meals following consumption. (DO)" [http://en.wikipedia.org/wiki/Rumination_syndrome "DO"]
synonym: "childhood eating and feeding disorders" EXACT []
synonym: "Feeding and Eating Disorders of Childhood" EXACT []
synonym: "psychogenic rumination" EXACT []
synonym: "rumination disorders" EXACT []
xref: GARD:7594
xref: ICD9CM:307.53
xref: MESH:D000079562
xref: NCI:C92567
is_a: DOID:8670 ! eating disorder

[Term]
id: DOID:11512
name: Budd-Chiari syndrome
alt_id: MIM:600880
def: "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16971261/ "DO"]
synonym: "BDCHS" EXACT []
synonym: "Chiari's syndrome" EXACT []
synonym: "Chiaris syndrome" EXACT []
synonym: "Chiari Syndrome" EXACT []
synonym: "Hepatic Vein Thromboses" EXACT []
synonym: "Hepatic Vein Thrombosis" EXACT []
synonym: "hepatic venous outflow obstruction" EXACT []
synonym: "membranous obstruction of inferior vena cava" NARROW []
synonym: "MOVC" NARROW []
xref: EFO:1000966
xref: ICD10CM:I82.0
xref: MESH:D006502
is_a: DOID:225 ! syndrome
is_a: DOID:272 ! hepatic vascular disease
is_a: DOID:409 ! liver disease
is_a: DOID:9003871 ! Venous Thrombosis

[Term]
id: DOID:11514
name: fissured tongue
alt_id: MESH:C564239
def: "The occurrence of of breaks or slits in the tissue of the dorsal surface of the TONGUE." [MESH:D014063]
synonym: "congenital fissure of tongue" EXACT []
synonym: "congenital plicated tongue" EXACT []
synonym: "fissured tongues" EXACT []
synonym: "fissure of tongue" EXACT []
synonym: "Furrowed Tongue" EXACT []
synonym: "Furrowed Tongues" EXACT []
synonym: "geographic tongue and fissured tongue" EXACT []
synonym: "Lingua Plicata" EXACT []
synonym: "Lingua Plicatas" EXACT []
synonym: "plicated tongue" EXACT []
synonym: "scrotal tongue" EXACT []
synonym: "scrotal tongues" EXACT []
xref: ICD10CM:K14.5
xref: ICD9CM:529.5
xref: MESH:D014063
is_a: DOID:10944 ! tongue disease

[Term]
id: DOID:11516
name: hypertensive heart disease
def: "A heart disease that is caused by high blood pressure. (DO)" [http://en.wikipedia.org/wiki/Heart_disease "DO", http://en.wikipedia.org/wiki/Hypertensive_heart_disease "DO"]
xref: ICD10CM:I11
xref: ICD9CM:402
xref: MONDO:0001302
xref: NCI:C157879
is_a: DOID:114 ! heart disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:11518
name: abnormal pupillary function
synonym: "abnormal pupillary functions" EXACT []
xref: ICD10CM:H57.09
xref: ICD9CM:379.49
is_a: DOID:238 ! pupil disease

[Term]
id: DOID:11520
name: benign hypertensive renal disease
synonym: "hypertensive renal disease, benign, without mention of renal failure" EXACT [ICD9CM_2006:403.10]
xref: ICD9CM:403.1
xref: RDO:9003035
is_a: DOID:1073 ! renal hypertension
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11527
name: laryngostenosis
def: "Developmental or acquired stricture or narrowing of the LARYNX. Symptoms of respiratory difficulty depend on the degree of laryngeal narrowing." [MESH:D007829]
synonym: "acquired laryngeal stenoses" EXACT []
synonym: "Acquired Laryngeal Stenosis" EXACT []
synonym: "Acquired Subglottic Stenoses" EXACT []
synonym: "Acquired Subglottic Stenosis" EXACT []
synonym: "Congenital Subglottic Stenoses" EXACT []
synonym: "Congenital Subglottic Stenosis" EXACT []
synonym: "Laryngeal Stenoses" EXACT []
synonym: "Laryngeal Stenosis" EXACT []
synonym: "laryngostenoses" EXACT []
synonym: "stenosis of larynx" EXACT []
xref: ICD10CM:J38.6
xref: ICD9CM:478.74
xref: MESH:D007829
xref: NCI:C79608
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9007870 ! Respiratory System Abnormalities

[Term]
id: DOID:11541
name: recurrent corneal erosion
synonym: "recurrent erosion of cornea" EXACT []
synonym: "recurrent erosion syndrome" EXACT []
xref: ICD10CM:H18.83
xref: ICD9CM:371.42
is_a: DOID:1237 ! corneal degeneration
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:11543
name: corneal abscess
xref: ICD10CM:H16.31
xref: ICD9CM:370.55
xref: NCI:C26969
is_a: DOID:9858 ! deep keratitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:11547
name: corneal deposit
synonym: "cornea deposits" EXACT []
xref: ICD10CM:H18.00
xref: ICD9CM:371.10
is_a: DOID:10124 ! corneal disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:11549
name: Adie syndrome
alt_id: MESH:C531601
alt_id: MIM:103100
def: "A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. (DO)" [http://en.wikipedia.org/wiki/Adie_syndrome "DO", http://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adie's%20syndrome "DO"]
synonym: "Adie's pupil or syndrome" EXACT []
synonym: "Adie's pupil syndrome" EXACT []
synonym: "Adie's syndrome" EXACT []
synonym: "Holmes Adie syndrome" EXACT []
synonym: "poorly reacting pupil" EXACT []
synonym: "poorly reacting pupils" EXACT []
synonym: "tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes" EXACT []
xref: EFO:0004126
xref: GARD:5749
xref: MESH:D000270
xref: NCI:C34357
is_a: DOID:11465 ! autonomic nervous system disease
is_a: DOID:225 ! syndrome
is_a: DOID:562 ! third cranial nerve disease
is_a: DOID:9008776 ! Tonic Pupil

[Term]
id: DOID:11550
name: oculomotor nerve paralysis
synonym: "III nerve palsy" EXACT []
synonym: "IIIrd nerve Paralysis" EXACT []
synonym: "Third cranial nerve paralysis" EXACT []
xref: ICD10CM:H49.0
xref: NCI:C27597
is_a: DOID:562 ! third cranial nerve disease

[Term]
id: DOID:11552
name: Bowman's membrane folds or rupture
synonym: "Bowman membrane folds or rupture" EXACT []
xref: ICD10CM:H18.31
xref: ICD9CM:371.31
xref: RDO:9003417
is_a: DOID:10124 ! corneal disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:11554
name: Chandler syndrome
def: "A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma. (DO)" [https://rarediseases.info.nih.gov/diseases/6033/chandlers-syndrome "DO"]
synonym: "Chandler's syndrome" EXACT []
synonym: "Chandlers syndrome" EXACT []
synonym: "endothelial corneal dystrophy" EXACT []
synonym: "posterior membrane corneal dystrophy" EXACT []
is_a: DOID:9003072 ! Iridocorneal Endothelial Syndrome
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:11555
name: Fuchs' endothelial dystrophy
def: "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. (DO)" [http://en.wikipedia.org/wiki/Fuchs%27_dystrophy "DO", http://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy "DO", http://rarediseases.info.nih.gov/gard/10018/corneal-dystrophy-fuchs-endothelial-1/resources/1 "DO", http://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956 "DO"]
synonym: "FCED" EXACT []
synonym: "Fuch's endothelial dystrophy" EXACT []
synonym: "Fuch endothelial dystrophy" EXACT []
synonym: "Fuchs atrophy" EXACT []
synonym: "Fuchs Corneal Dystrophy" EXACT []
synonym: "Fuchs Dystrophy" EXACT []
synonym: "Fuchs endothelial corneal dystrophy" EXACT []
xref: EFO:0003946
xref: GARD:10018
xref: ICD10CM:H18.51
xref: MESH:D005642
xref: MIM:PS136800
xref: MONDO:0005321
xref: NCI:C84721
xref: ORDO:98974
is_a: DOID:0060443 ! corneal endothelial dystrophy

[Term]
id: DOID:11557
name: acute serous otitis media
def: "A acute transudative otitis media with thin, watery and sterile effusion. (DO)" [http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false "DO"]
synonym: "acute non-suppurative otitis media - serous" EXACT []
xref: ICD10CM:H65.0
xref: ICD9CM:381.01
xref: RDO:9003859
is_a: DOID:3697 ! acute transudative otitis media

[Term]
id: DOID:11558
name: acute allergic serous otitis media
def: "A acute serous otitis media caused by an allergen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15301306 "DO"]
xref: ICD9CM:381.04
is_a: DOID:11557 ! acute serous otitis media
is_a: DOID:1205 ! allergic disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:1156
name: chondrocalcinosis
def: "An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. (DO)" [http://en.wikipedia.org/wiki/Chondrocalcinosis "DO", http://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx "DO", http://www.mayoclinic.com/health/pseudogout/DS00717 "DO", http://www.merckmanuals.com/professional/sec04/ch035/ch035c.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000421.htm "DO", http://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp "DO"]
synonym: "Calcium Pyrophosphate Deposition Disease" EXACT []
synonym: "Calcium Pyrophosphate Dihydrate Deposition" EXACT []
synonym: "chondrocalcinoses" EXACT []
synonym: "pseudogout" EXACT []
xref: ICD9CM:712.1
xref: MESH:D002805
xref: NCI:C34955
xref: ORDO:1416
is_a: DOID:848 ! arthritis
is_a: DOID:9005593 ! Crystal Arthropathies

[Term]
id: DOID:11561
name: hypertensive retinopathy
def: "Degenerative changes to the RETINA due to HYPERTENSION." [MESH:D058437]
synonym: "Hypertensive Retinopathies" EXACT []
xref: EFO:1000977
xref: ICD10CM:H35.03
xref: ICD9CM:362.11
xref: MESH:D058437
xref: NCI:C3514
xref: RDO:0007828
is_a: DOID:10763 ! hypertension
is_a: DOID:5679 ! retinal disease

[Term]
id: DOID:11563
name: retinal vasculitis
def: "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images. (DO)" [https://en.wikipedia.org/wiki/Retinal_vasculitis "DO"]
xref: EFO:1001156
xref: ICD10CM:H35.06
xref: ICD9CM:362.18
xref: MESH:D031300
is_a: DOID:2462 ! retinal vascular disease
is_a: DOID:865 ! vasculitis

[Term]
id: DOID:11569
name: neurocirculatory asthenia
def: "A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities. (DO)" [http://en.wikipedia.org/wiki/Da_Costa%27s_syndrome "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1277260/ "DO"]
synonym: "cardiac neuroses" EXACT []
synonym: "cardiac neurosis" EXACT []
synonym: "cardiovascular malfunction arising from mental factors" EXACT []
synonym: "cardiovascular neurosis" EXACT []
synonym: "Da Costa's syndrome" EXACT []
synonym: "Effort Syndrome" EXACT []
synonym: "hyperkinetic heart syndrome" EXACT []
synonym: "Krishaber's disease" EXACT []
synonym: "neurocirculatory asthenias" EXACT []
xref: ICD9CM:306.2
xref: MESH:D009449
is_a: DOID:2030 ! anxiety disorder
is_a: DOID:4737 ! somatoform disorder

[Term]
id: DOID:11572
name: listeria meningitis
def: "A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21877182 "DO"]
synonym: "Listeria Cerebritis" EXACT []
synonym: "Listeria Meningoencephalitis" EXACT []
synonym: "Listeria monocytogenes Meningitis" EXACT []
xref: EFO:1001021
xref: MESH:D008584
xref: MONDO:0006836
is_a: DOID:11573 ! listeriosis
is_a: DOID:9470 ! bacterial meningitis

[Term]
id: DOID:11573
name: listeriosis
def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001380.htm "DO"]
synonym: "infection by listeria monocytogenes" EXACT []
synonym: "Listeria Infection" EXACT []
synonym: "Listeria Infections" EXACT []
synonym: "Listerioses" EXACT []
xref: EFO:0007347
xref: ICD10CM:A32
xref: ICD9CM:027.0
xref: MESH:D008088
xref: NCI:C82994
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9002823 ! Gram-Positive Bacterial Infections

[Term]
id: DOID:11574
name: streptococcal meningitis
def: "A bacterial meningitis that has_material_basis_in streptococcal bacteria. (DO)" [https://medlineplus.gov/ency/article/000607.htm "DO"]
xref: ICD10CM:G00.2
xref: ICD9CM:320.2
is_a: DOID:9470 ! bacterial meningitis
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:11577
name: Cauda equina syndrome
def: "A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. (DO)" [http://en.wikipedia.org/wiki/Cauda_equina_syndrome "DO"]
synonym: "cauda equina syndromes" EXACT []
xref: EFO:0007196
xref: GARD:10987
xref: ICD10CM:G83.4
xref: ICD9CM:344.6
xref: MESH:D000077684
xref: NCI:C35436
is_a: DOID:225 ! syndrome
is_a: DOID:574 ! peripheral nervous system disease

[Term]
id: DOID:11581
name: phlyctenulosis
synonym: "phlyctenular keratoconjunctivitis" EXACT []
synonym: "strumous ophthalmia" EXACT []
xref: ICD10CM:H16.25
xref: ICD9CM:370.31
is_a: DOID:9368 ! keratoconjunctivitis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:11589
name: Riley-Day syndrome
alt_id: MIM:223900
def: "A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26769677/ "DO"]
synonym: "dominant hereditary sensory neuropathy, type 3" EXACT []
synonym: "dominant hereditary sensory neuropathy, type III" EXACT []
synonym: "DYS" EXACT []
synonym: "familial autonomic nervous dysfunction" EXACT []
synonym: "familial dysautonomia" EXACT []
synonym: "FD" EXACT []
synonym: "hereditary and autonomic neuropathy, type III" EXACT []
synonym: "hereditary sensory and autonomic neuropathy 3" EXACT []
synonym: "Hereditary Sensory and Autonomic Neuropathy Type III" EXACT []
synonym: "hereditary sensory neuropathy type 3" EXACT []
synonym: "HSAN (hereditary sensory and autonomic neuropathy) type III" EXACT []
synonym: "HSAN 3" EXACT []
synonym: "HSAN3" EXACT []
synonym: "HSAN III" EXACT []
synonym: "HSAN type III" EXACT []
synonym: "HSN-III" EXACT []
xref: ICD10CM:G90.1
xref: MESH:D004402
xref: NCI:C84706
is_a: DOID:0050548 ! hereditary sensory neuropathy
is_a: DOID:225 ! syndrome
is_a: DOID:9003171 ! Primary Dysautonomias

[Term]
id: DOID:1159
name: functional gastric disease
xref: ICD9CM:536.8
xref: RDO:9003446
is_a: DOID:76 ! stomach disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:11593
name: bladder lateral wall cancer
synonym: "Lateral Wall of bladder" EXACT [NCI2004_11_17:C12333]
synonym: "lateral wall of bladder cancer" EXACT []
synonym: "malignant neoplasm of lateral wall of urinary bladder" EXACT []
xref: ICD10CM:C67.2
xref: ICD9CM:188.2
xref: NCI:C12333
xref: RDO:9001946
is_a: DOID:11054 ! urinary bladder cancer
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:11594
name: ring staphyloma
xref: ICD10CM:H15.85
xref: ICD9CM:379.15
is_a: DOID:11595 ! scleral staphyloma

[Term]
id: DOID:11595
name: scleral staphyloma
synonym: "Scleral ectasia" EXACT []
is_a: DOID:11343 ! scleral disease

[Term]
id: DOID:11599
name: Frey syndrome
alt_id: MIM:144100
def: "An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12269550/ "DO"]
synonym: "auriculotemporal nerve syndrome" EXACT []
synonym: "auriculotemporal syndrome" EXACT []
synonym: "Baillarger Syndrome" EXACT []
synonym: "Frey's Syndrome" EXACT []
synonym: "gustatory hyperhidroses" EXACT []
synonym: "Gustatory Hyperhidrosis" EXACT []
synonym: "gustatory sweating" EXACT []
synonym: "Salivosudoriparous Syndrome" EXACT []
synonym: "salivosudoriparous syndromes" EXACT []
synonym: "von Frey's Syndrome" EXACT []
synonym: "von Freys syndrome" EXACT []
synonym: "von Frey syndrome" EXACT []
xref: EFO:1000940
xref: GARD:6467
xref: MESH:D013547
is_a: DOID:11465 ! autonomic nervous system disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004062 ! Hyperhidrosis

[Term]
id: DOID:116
name: pericardium cancer
synonym: "malignant neoplasm of pericardium" EXACT []
synonym: "malignant tumor of Pericardium" EXACT [NCI2004_11_17:C4567]
synonym: "Pericardial tumor" EXACT [NCI2004_11_17:C4651]
xref: ICD10CM:C38.0
xref: NCI:C4567
xref: NCI:C4651
xref: RDO:9002747
is_a: DOID:0050829 ! pericardium disease
is_a: DOID:117 ! heart cancer
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:11603
name: infant gynecomastia
def: "A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age. (DO)" [https://www.aafp.org/afp/2012/0401/p716.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/28260521 "DO"]
synonym: "breast engorgement in newborn" EXACT []
synonym: "neonatal gynaecomastia" EXACT []
synonym: "newborn gynecomastia" EXACT []
xref: ICD10CM:P83.4
xref: ICD9CM:778.7
xref: NCI:C117312
is_a: DOID:12698 ! gynecomastia
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:11608
name: fungal meningitis
def: "A meningitis that has_material_basis_in a fungal infection. (DO)" [https://en.wikipedia.org/wiki/Fungal_meningitis "DO"]
synonym: "fungal meningitides" EXACT []
synonym: "fungal pachymeningitides" EXACT []
synonym: "fungal pachymeningitis" EXACT []
xref: EFO:1000942
xref: MESH:D016921
is_a: DOID:9001177 ! Central Nervous System Fungal Infections
is_a: DOID:9471 ! meningitis

[Term]
id: DOID:11612
name: polycystic ovary syndrome
alt_id: MIM:184700
def: "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. (DO)" [http://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome "DO", https://en.wikipedia.org/wiki/Polycystic_ovary_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/28791858 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20591140 "DO"]
synonym: "hyperandrogenemia" EXACT []
synonym: "Multicystic ovaries" EXACT []
synonym: "PCO" EXACT []
synonym: "PCO1" EXACT []
synonym: "PCOS" EXACT []
synonym: "PCOS1" EXACT []
synonym: "Polycystic Ovarian disease" EXACT [NCI2004_11_17:C27086]
synonym: "Polycystic Ovarian Syndrome" EXACT []
synonym: "Polycystic ovaries" EXACT []
synonym: "polycystic ovary" EXACT [CSP2005:2587-6111]
synonym: "Polycystic Ovary Syndrome 1" EXACT []
synonym: "POLYCYSTIC OVARY SYNDROME, SUSCEPTIBILITY TO" RELATED []
synonym: "Sclerocystic Ovarian Degeneration" EXACT []
synonym: "Sclerocystic Ovaries" EXACT []
synonym: "Sclerocystic Ovary" EXACT []
synonym: "Sclerocystic Ovary Syndrome" EXACT []
synonym: "Stein-Leventhal synd." EXACT []
synonym: "Stein Leventhal syndrome" EXACT []
xref: EFO:0000660
xref: ICD10CM:E28.2
xref: ICD9CM:256.4
xref: MESH:D011085
xref: NCI:C26862
xref: NCI:C92847
is_a: DOID:1414 ! ovarian dysfunction
is_a: DOID:225 ! syndrome
is_a: DOID:5119 ! ovarian cyst

[Term]
id: DOID:11613
name: hyperandrogenism
alt_id: RDO:0003503
def: "A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is negligible. In women, the common manifestations are HIRSUTISM and VIRILISM as seen in patients with POLYCYSTIC OVARY SYNDROME and ADRENOCORTICAL HYPERFUNCTION." [MESH:D017588]
synonym: "hyperandrogenization syndrome" EXACT [SNOMEDCT_2005_07_31:237793004]
xref: EFO:0009006
xref: MESH:D017588
is_a: DOID:1923 ! disorder of sexual development
is_a: DOID:9002128 ! Adrenogenital Syndrome
is_a: DOID:9005851 ! 46, XX Disorders of Sex Development

[Term]
id: DOID:11615
name: penile cancer
synonym: "cancer of penis" EXACT []
synonym: "Ca penis" EXACT [SNOMEDCT_2005_07_31:154536009]
synonym: "malignant neoplasm of body of penis" EXACT []
synonym: "malignant penile tumor" EXACT []
synonym: "penile Ca" EXACT [SNOMEDCT_2005_07_31:93954003]
synonym: "penile cancers" EXACT []
synonym: "penis cancer" EXACT []
synonym: "penis cancers" EXACT []
xref: ICD10CM:C60
xref: ICD10CM:C60.2
xref: ICD9CM:187.3
xref: ICD9CM:187.4
xref: NCI:C7547
is_a: DOID:3856 ! male reproductive organ cancer
is_a: DOID:9003196 ! Penile Neoplasms
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:11623
name: dental pulp necrosis
def: "A dental pulp disease characterized by death of the pulp tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3867505/ "DO", https://www.aae.org/specialty/wp-content/uploads/sites/2/2017/07/endodonticdiagnosisfall2013.pdf "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481543/ "DO"]
synonym: "dental pulp autolyses" EXACT []
synonym: "Dental Pulp Autolysis" EXACT []
synonym: "Dental Pulp Gangrene" EXACT []
synonym: "dental pulp necroses" EXACT []
synonym: "necrosis of the pulp" EXACT []
synonym: "necrotic pulp" EXACT []
synonym: "Pulp Gangrene" EXACT []
synonym: "Pulp Gangrenes" EXACT []
synonym: "Pulp Mummification" EXACT []
synonym: "Pulp Mummifications" EXACT []
synonym: "pulp necroses" EXACT []
synonym: "pulp necrosis" EXACT []
xref: ICD10CM:K04.1
xref: ICD9CM:522.1
xref: MESH:D003790
is_a: DOID:5330 ! dental pulp disease
is_a: DOID:9005749 ! Necrosis

[Term]
id: DOID:11624
name: penile benign neoplasm
xref: EFO:1001094
is_a: DOID:0060087 ! male reproductive organ benign neoplasm
is_a: DOID:9003196 ! Penile Neoplasms

[Term]
id: DOID:11629
name: pelvic muscle wasting
def: "A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27219835/ "DO"]
xref: ICD10CM:N81.84
xref: ICD9CM:618.83
is_a: DOID:1284 ! prolapse of female genital organ
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:11633
name: thyroid hormone resistance syndrome
def: "An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels." [MESH:D018382]
synonym: "generalized resistance to thyroid hormone" EXACT []
synonym: "generalized thyroid hormone resistance" EXACT []
synonym: "GRTH" EXACT []
synonym: "GTHR" EXACT []
synonym: "Refetoff DeWind DeGroot syndrome" EXACT []
synonym: "Refetoff syndrome" EXACT []
synonym: "THRB-RELATED CONDITION" BROAD []
synonym: "thyroid hormone resistance" EXACT []
synonym: "thyroid hormone responsiveness defect" EXACT []
synonym: "thyroid hormone unresponsiveness" EXACT []
xref: MESH:D018382
xref: NCI:C131816
xref: NCI:C85191
is_a: DOID:1459 ! hypothyroidism
is_a: DOID:225 ! syndrome
is_a: DOID:2855 ! hyperthyroxinemia

[Term]
id: DOID:11634
name: myxedema
alt_id: MIM:255900
def: "A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." [MESH:D009230]
synonym: "myxedemas" EXACT []
xref: EFO:1001055
xref: MESH:D009230
xref: NCI:C34834
is_a: DOID:1459 ! hypothyroidism
is_a: DOID:3141 ! mucinoses

[Term]
id: DOID:11637
name: accommodative spasm
synonym: "spasm of accommodation" EXACT []
xref: ICD10CM:H52.53
xref: ICD9CM:367.53
is_a: DOID:10034 ! eye accommodation disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11638
name: presbyopia
def: "The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation." [MESH:D011305]
synonym: "presbyopias" EXACT []
xref: ICD10CM:H52.4
xref: ICD9CM:367.4
xref: MESH:D011305
is_a: DOID:10034 ! eye accommodation disease
is_a: DOID:9835 ! refractive error

[Term]
id: DOID:11650
name: bronchopulmonary dysplasia
alt_id: DOID:9001403
def: "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. (DO)" [https://www.nhlbi.nih.gov/health/bronchopulmonary-dysplasia "DO"]
synonym: "bronchopulmonary dysplasia of newborn" EXACT []
synonym: "bronchopulmonary dysplasias" EXACT []
synonym: "Chronic lung disease of prematurity" EXACT []
synonym: "Neonatal chronic lung disease" EXACT []
synonym: "neonatal chronic respiratory disease" EXACT []
synonym: "perinatal bronchopulmonary dysplasia" EXACT []
xref: ICD10CM:P27.1
xref: MESH:D001997
xref: MONDO:0019091
xref: NCI:C90599
is_a: DOID:9000945 ! Ventilator-Induced Lung Injury
is_a: DOID:9004676 ! Premature Infant Diseases
created_by: mtutaj
creation_date: 2023-01-30T20:27:47Z

[Term]
id: DOID:11653
name: conjunctival deposit
xref: ICD10CM:H11.11
xref: ICD9CM:372.56
is_a: DOID:4251 ! conjunctival disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:11656
name: cicatricial pemphigoid
alt_id: MIM:164185
def: "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. (DO)" [http://en.wikipedia.org/wiki/Cicatricial_pemphigoid "DO", http://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html "DO"]
synonym: "benign mucosal pemphigoid" EXACT []
synonym: "benign mucosal pemphigoids" EXACT []
synonym: "benign mucous membrane pemphigoid" EXACT []
synonym: "benign mucous membrane pemphigoid with ocular involvement" EXACT []
synonym: "cicatricial pemphigoid with ocular involvement" EXACT []
synonym: "localised cicatricial pemphigoid" NARROW []
synonym: "mucous membrane pemphigoid" EXACT []
synonym: "Ocular Cicatricial Pemphigoid" EXACT []
synonym: "ocular cicatricial pemphigoids" EXACT []
synonym: "ocular pemphigoid" EXACT []
synonym: "ocular pemphigus" EXACT []
synonym: "vegetating cicatricial pemphigoid" NARROW []
xref: EFO:0008610
xref: EFO:0008611
xref: EFO:0008612
xref: EFO:1000680
xref: GARD:5913
xref: ICD10CM:L12.1
xref: ICD9CM:694.6
xref: ICD9CM:694.61
xref: MESH:D010390
xref: NCI:C34907
is_a: DOID:0080841 ! pemphigoid
is_a: DOID:4251 ! conjunctival disease

[Term]
id: DOID:1166
name: palindromic rheumatism
def: "An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. (DO)" [http://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm "DO", http://en.wikipedia.org/wiki/Palindromic_rheumatism "DO", http://www.palindromicrheumatism.org/ "DO", https://rarediseases.info.nih.gov/diseases/7304/palindromic-rheumatism "DO", https://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/expert-answers/palindromic-rheumatism/faq-20058516 "DO"]
synonym: "Hench's syndrome" EXACT []
synonym: "Hench-Rosenberg syndrome" EXACT []
synonym: "palindromic rheumatism syndrome" EXACT []
xref: GARD:7304
xref: ICD10CM:M12.3
xref: ICD10CM:M12.30
xref: ICD9CM:719.3
xref: ICD9CM:719.31
xref: MESH:C538103
is_a: DOID:225 ! syndrome
is_a: DOID:7148 ! rheumatoid arthritis

[Term]
id: DOID:11661
name: blue color blindness
def: "A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. (DO)" [http://www.omim.org/entry/190900 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2788922 "DO"]
synonym: "blue colorblindness" EXACT []
synonym: "CBT" EXACT []
synonym: "COLORBLINDNESS, TRITAN" EXACT []
synonym: "COLORBLINDNESS, TRITANOPIC" EXACT []
synonym: "tritan defect" EXACT []
synonym: "tritanopia" EXACT []
xref: ICD10CM:H53.55
xref: ICD9CM:368.53
xref: MIM:190900
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13399 ! color blindness

[Term]
id: DOID:11664
name: nephrosclerosis
def: "Hardening of the KIDNEY due to infiltration by fibrous connective tissue (FIBROSIS), usually caused by renovascular diseases or chronic HYPERTENSION. Nephrosclerosis leads to renal ISCHEMIA." [MESH:D009400]
synonym: "Nephroscleroses" EXACT []
synonym: "renal sclerosis" EXACT []
xref: EFO:1000041
xref: GARD:7179
xref: ICD10CM:I12
xref: ICD10CM:N26.9
xref: ICD9CM:587
xref: MESH:D009400
is_a: DOID:1073 ! renal hypertension
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:11665
name: Patau syndrome
synonym: "Bartholin-Patau syndrome" EXACT []
synonym: "chromosome 13 duplication" EXACT []
synonym: "Chromosome 13 trisomy syndrome" EXACT []
synonym: "Complete Trisomy 13 Syndrome" EXACT []
synonym: "D1 trisomy" EXACT []
synonym: "Patau's Syndrome" EXACT []
synonym: "Trisomy 13" EXACT []
synonym: "trisomy 13 syndrome" EXACT []
xref: ICD10CM:Q91.7
xref: ICD9CM:758.1
xref: MESH:C536305
xref: NCI:C101223
xref: NCI:C36529
is_a: DOID:225 ! syndrome
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:11668
name: hypopigmentation of eyelid
def: "A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances. (DO)" [https://en.wikipedia.org/wiki/Vitiligo "DO", https://www.aafp.org/afp/1998/0601/p2695.html "DO"]
xref: EFO:1000713
xref: ICD10CM:H02.73
xref: ICD9CM:374.53
is_a: DOID:530 ! eyelid disease
is_a: DOID:9005660 ! Hypopigmentation
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:11669
name: hypertrichosis of eyelid
xref: ICD10CM:H02.86
xref: ICD9CM:374.54
is_a: DOID:420 ! hypertrichosis
is_a: DOID:530 ! eyelid disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:11671
name: hypotrichosis of eyelid
xref: ICD10CM:H02.72
xref: ICD9CM:374.55
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:530 ! eyelid disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:11678
name: onchocerciasis
def: "A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm "DO"]
synonym: "infection by Onchocerca volvulus" EXACT []
synonym: "Onchocerca volvulus infection" EXACT []
synonym: "Onchocerciases" EXACT []
synonym: "volvulosis" EXACT []
xref: EFO:0007402
xref: GARD:7252
xref: ICD10CM:B73
xref: ICD9CM:125.3
xref: MESH:D009855
xref: NCI:C34861
is_a: DOID:1080 ! filariasis
is_a: DOID:9007630 ! Parasitic Skin Diseases

[Term]
id: DOID:1168
name: familial hyperlipidemia
def: "Conditions with excess LIPIDS in the blood." [MESH:D006949]
synonym: "familial hyperlipoproteinemia" EXACT []
synonym: "Hyperlipemia" EXACT []
synonym: "hyperlipemias" EXACT []
synonym: "hyperlipidaemia" RELATED []
synonym: "Hyperlipidemia" EXACT []
synonym: "Lipemia" EXACT []
synonym: "Lipemias" EXACT []
synonym: "Lipidemia" EXACT []
synonym: "lipidemias" EXACT []
xref: EFO:0003774
xref: ICD10CM:E78.5
xref: MESH:D006949
xref: MONDO:0001336
xref: MONDO:0021187
xref: NCI:C34707
xref: NCI:C34709
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9003370 ! Dyslipidemias

[Term]
id: DOID:11684
name: melanoacanthoma
xref: EFO:1000733
xref: NCI:C27548
xref: RDO:9003559
is_a: DOID:6498 ! seborrheic keratosis
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:11685
name: inflamed seborrheic keratosis
xref: ICD10CM:L82.0
xref: ICD9CM:702.11
is_a: DOID:6498 ! seborrheic keratosis
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:11693
name: acute apical periodontitis
synonym: "acute apical periodontitis of pulpal origin" EXACT []
xref: ICD10CM:K04.4
xref: ICD9CM:522.4
xref: RDO:9003073
is_a: DOID:823 ! periapical periodontitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11695
name: portal vein thrombosis
def: "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein. (DO)" [http://en.wikipedia.org/wiki/Portal_vein_thrombosis "DO"]
xref: ICD10CM:I81
xref: ICD9CM:452
xref: NCI:C78565
is_a: DOID:272 ! hepatic vascular disease
is_a: DOID:9003871 ! Venous Thrombosis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:117
name: heart cancer
def: "A cardiovascular cancer located_in the heart. (DO)" [http://en.wikipedia.org/wiki/Heart_cancer "DO"]
synonym: "cardiac cancer" EXACT []
synonym: "cardiac cancers" EXACT []
synonym: "heart cancers" EXACT []
synonym: "malignant cardiac tumor" EXACT []
synonym: "malignant neoplasm of heart" EXACT []
xref: GARD:2619
xref: ICD9CM:164.1
xref: MESH:D006338
xref: NCI:C3081
xref: NCI:C3548
is_a: DOID:176 ! cardiovascular cancer
is_a: DOID:9006547 ! Heart Neoplasms
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:11701
name: selective IgA deficiency disease
alt_id: MIM:137100
def: "A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. (DO)" [http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency "DO"]
synonym: "Gamma-a-globulin, selective deficiency of" EXACT []
synonym: "IGAD1" EXACT []
synonym: "Iga, selective deficiency of" EXACT []
synonym: "Immunoglobulin A deficiency" EXACT [SNOMEDCT_2005_07_31:29260007]
synonym: "Immunoglobulin A Deficiency 1" EXACT []
synonym: "Immunoglobulin a, selective deficiency of" EXACT []
synonym: "selective IgA immunodeficiency" EXACT []
synonym: "selective immunoglobulin A deficiency" EXACT []
xref: EFO:1001929
xref: MESH:C536290
xref: NCI:C123434
xref: NCI:C26964
is_a: DOID:0060025 ! immunoglobulin alpha deficiency
is_a: DOID:11702 ! dysgammaglobulinemia

[Term]
id: DOID:11702
name: dysgammaglobulinemia
def: "A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. (DO)" [http://en.wikipedia.org/wiki/Dysgammaglobulinemia "DO"]
synonym: "dysgammaglobulinemias" EXACT []
xref: MESH:D004406
is_a: DOID:6025 ! selective immunoglobulin deficiency disease
is_a: DOID:620 ! blood protein disease

[Term]
id: DOID:1171
name: hyperlipoproteinemia type V
alt_id: MIM:144650
def: "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." [MESH:D006954]
synonym: "familial hyperlipoproteinemia type 5" EXACT []
synonym: "familial hyperlipoproteinemia type V" EXACT []
synonym: "Fredrickson type V lipaemia" EXACT []
synonym: "Hyperchylomicronemia Late Onset" EXACT []
synonym: "Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial" EXACT []
synonym: "Hyperlipemia, Combined Fat And Carbohydrate Induced" EXACT []
synonym: "hyperlipoproteinemias type V" EXACT []
synonym: "Hyperlipoproteinemia Type 5" EXACT []
synonym: "late-onset hyperchylomicronemias" EXACT []
synonym: "Mixed Hyperlipemia" EXACT []
synonym: "Mixed Hyperlipemias" EXACT []
synonym: "Type V Hyperlipidemia" EXACT []
synonym: "Type V Hyperlipidemias" EXACT []
xref: MESH:D006954
xref: NCI:C35645
is_a: DOID:1168 ! familial hyperlipidemia
is_a: DOID:9006599 ! Hypertriglyceridemia
is_a: DOID:9007571 ! Hyperlipoproteinemias

[Term]
id: DOID:11712
name: lipoatrophic diabetes mellitus
def: "A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy. (DO)" [http://en.wikipedia.org/wiki/Lipoatrophic_diabetes "DO"]
synonym: "FAMILIAL PARTIAL LIPODYSTROPHY 2" EXACT []
synonym: "lipoatrophic diabetes" EXACT []
xref: EFO:0007346
xref: MESH:D003923
xref: NCI:C34537
is_a: DOID:811 ! lipodystrophy
is_a: DOID:9352 ! type 2 diabetes mellitus

[Term]
id: DOID:11713
name: diabetic angiopathy
alt_id: DOID:10182
alt_id: MIM:603933
alt_id: MIM:612623
alt_id: MIM:612624
alt_id: MIM:612628
alt_id: MIM:612633
alt_id: MIM:612634
alt_id: MIM:612635
def: "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes. (DO)" [https://en.wikipedia.org/wiki/Diabetic_angiopathy "DO"]
synonym: "diabetic angiopathies" EXACT []
synonym: "diabetic microangiopathies" EXACT []
synonym: "Diabetic Microangiopathy" EXACT []
synonym: "diabetic neuropathy, susceptibility to" RELATED []
synonym: "diabetic nonproliferative retinopathy, susceptibility to" RELATED []
synonym: "diabetic peripheral angiopathy" EXACT []
synonym: "diabetic proliferative retinopathy, susceptibility to" RELATED []
synonym: "diabetic retinopathy, susceptibility to" RELATED []
synonym: "diabetic vascular complication" EXACT []
synonym: "diabetic vascular complications" EXACT []
synonym: "diabetic vascular disease" EXACT []
synonym: "diabetic vascular diseases" EXACT []
synonym: "diabetic vascular disorder" EXACT []
synonym: "END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO" RELATED []
synonym: "macrovascular complications of diabetes" RELATED []
synonym: "microvascular complications of diabetes, protection against" RELATED []
synonym: "microvascular complications of diabetes, susceptibility to" RELATED []
synonym: "microvascular complications of diabetes, susceptibility to, 1" RELATED []
synonym: "microvascular complications of diabetes, susceptibility to, 2" RELATED []
synonym: "microvascular complications of diabetes, susceptibility to, 3" RELATED []
synonym: "microvascular complications of diabetes, susceptibility to, 4" RELATED []
synonym: "microvascular complications of diabetes, susceptibility to, 5" RELATED []
synonym: "microvascular complications of diabetes, susceptibility to, 6" RELATED []
synonym: "microvascular complications of diabetes, susceptibility to, 7" RELATED []
synonym: "MVCD1" RELATED []
synonym: "MVCD2" RELATED []
synonym: "MVCD3" RELATED []
synonym: "MVCD4" RELATED []
synonym: "MVCD5" RELATED []
synonym: "MVCD6" RELATED []
synonym: "MVCD7" RELATED []
synonym: "SUPEROXIDE DISMUTASE 2 POLYMORPHISM" RELATED []
xref: EFO:0010977
xref: EFO:1000896
xref: ICD9CM:250.7
xref: MESH:D003925
xref: MIM:PS603933
xref: NCI:C35610
is_a: DOID:341 ! peripheral vascular disease
is_a: DOID:9002661 ! Diabetes Complications
is_a: DOID:9352 ! type 2 diabetes mellitus

[Term]
id: DOID:11714
name: gestational diabetes
def: "A diabetes mellitus that manifests during pregnancy. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26824237/ "DO"]
synonym: "GDM" EXACT []
synonym: "gestational diabetes mellitus" EXACT []
synonym: "GESTATIONAL DIABETES MELLITUS UNCONTROLLED" NARROW []
synonym: "maternal gestational diabetes mellitus" EXACT []
synonym: "Pregnancy-Induced Diabetes" EXACT []
xref: EFO:0004593
xref: ICD10CM:O24.4
xref: MESH:D016640
xref: NCI:C34942
is_a: DOID:9004702 ! Pregnancy Complications
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:11716
name: prediabetes syndrome
def: "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26280340/ "DO"]
synonym: "prediabetes" EXACT []
synonym: "prediabetic state" EXACT []
synonym: "prediabetic states" EXACT []
xref: EFO:1001121
xref: MESH:D011236
xref: NCI:C122685
is_a: DOID:4194 ! glucose metabolism disease
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:11717
name: neonatal diabetes
def: "A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928785/ "DO"]
synonym: "diabetes mellitus syndrome in newborn infant" EXACT []
synonym: "neonatal diabetes mellitus" EXACT []
xref: ICD10CM:P70.2
xref: ICD9CM:775.1
xref: NCI:C99248
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9351 ! diabetes mellitus
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:11718
name: antidepressant type abuse
def: "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Antidepressant "DO"]
synonym: "antidepressant use disorder" EXACT []
xref: ICD9CM:305.8
is_a: DOID:302 ! substance abuse
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:11719
name: oculopharyngeal muscular dystrophy
alt_id: MIM:164300
def: "An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy." [MESH:D039141]
synonym: "oculopharyngeal dystrophy" EXACT []
synonym: "oculopharyngeal muscular dystrophies" EXACT []
synonym: "oculopharyngeal muscular dystrophy 1" EXACT []
synonym: "OPMD" EXACT []
synonym: "OPMD1" EXACT []
synonym: "progressive muscular dystrophy, oculopharyngeal type" EXACT []
xref: MESH:D039141
xref: NCI:C84942
is_a: DOID:929 ! myopathy of extraocular muscle
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:1172
name: hyperlipoproteinemia type IV
alt_id: MIM:144600
alt_id: MIM:145750
def: "A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." [MESH:D006953]
synonym: "carbohydrate inducible hyperlipemia" EXACT []
synonym: "carbohydrate inducible hyperlipemias" EXACT []
synonym: "endogenous hyperlipidaemia" EXACT []
synonym: "Familial Hyperlipoproteinemia Type 4" EXACT []
synonym: "Familial Type IV Hyperlipoproteinemia" EXACT []
synonym: "Fredrickson type IV hyperlipoproteinemia" EXACT []
synonym: "Fredrickson type IV lipidaemia" EXACT []
synonym: "Fredrickson type IV lipidemia" EXACT []
synonym: "Hyper prebeta lipoproteinemia" EXACT []
synonym: "hyperprebetalipoproteinemia" EXACT []
synonym: "type IV hyperlipoproteinemias" EXACT []
synonym: "VLDL hyperlipoproteinemia" EXACT []
xref: ICD10CM:E78.1
xref: ICD9CM:272.1
xref: MESH:D006953
xref: NCI:C34711
is_a: DOID:9006599 ! Hypertriglyceridemia
is_a: DOID:9007571 ! Hyperlipoproteinemias

[Term]
id: DOID:11720
name: distal myopathy
def: "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. (DO)" [https://rarediseases.org/rare-diseases/distal-myopathy/ "DO"]
synonym: "distal muscle weakness" EXACT []
synonym: "distal muscular dystrophies" EXACT []
synonym: "distal muscular dystrophy" EXACT []
synonym: "distal myopathy, early-onset, autosomal dominant" EXACT []
synonym: "distal myopathy, late hereditary" EXACT []
synonym: "distal myopathy, Markesbery Griggs type" EXACT []
xref: ICD10CM:G71.09
xref: MESH:D049310
xref: MIM:PS160500
xref: NCI:C84675
xref: ORDO:399086
xref: ORDO:399096
xref: ORDO:5448
xref: ORDO:63273
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:11721
name: glycogen storage disease VII
alt_id: MIM:232800
alt_id: OMIA:000421
def: "A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13. (DO)" [https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/ "DO"]
synonym: "glycogenosis 7" EXACT []
synonym: "Glycogen storage disease 7" EXACT []
synonym: "glycogen storage disease type VII" EXACT []
synonym: "GSD7" EXACT []
synonym: "GSD VII" EXACT []
synonym: "muscle phosphofructokinase deficiencies" EXACT []
synonym: "Muscle Phosphofructokinase Deficiency" EXACT []
synonym: "PFKM deficiencies" EXACT []
synonym: "PFKM deficiency" EXACT []
synonym: "phosphofructokinase myopathy" EXACT []
synonym: "Tarui's disease" EXACT []
synonym: "Tarui Disease" EXACT []
synonym: "Taruis disease" EXACT []
xref: ICD10CM:E74.09
xref: MESH:D006014
xref: NCI:C118437
xref: ORDO:371
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2747 ! glycogen storage disease
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:11722
name: myotonic dystrophy type 1
alt_id: MIM:160900
def: "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. (DO)" [http://en.wikipedia.org/wiki/Myotonic_dystrophy "DO", http://ghr.nlm.nih.gov/condition/myotonic-dystrophy "DO", http://omim.org/entry/160900 "DO", http://www.genome.gov/25521207 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1165/ "DO"]
synonym: "congenital myotonic dystrophies" EXACT []
synonym: "congenital myotonic dystrophy" EXACT []
synonym: "DM" EXACT []
synonym: "DM1" EXACT []
synonym: "dystrophia myotonica" EXACT []
synonym: "dystrophia myotonica 1" EXACT []
synonym: "myotonia atrophica" EXACT []
synonym: "Myotonia Dystrophica" EXACT []
synonym: "myotonic dystrophies" EXACT []
synonym: "Myotonic Dystrophy 1" EXACT []
synonym: "myotonic dystrophy of Steinert" EXACT []
synonym: "PROMM" EXACT []
synonym: "PROMM (Proximal Myotonic Myopathy)" EXACT []
synonym: "Proximal Myotonic Myopathies" EXACT []
synonym: "proximal myotonic myopathy" EXACT []
synonym: "Ricker syndrome" EXACT []
synonym: "Steinert's disease" EXACT []
synonym: "Steinert disease" EXACT []
synonym: "Steinert myotonic dystrophy" EXACT []
synonym: "Steinert myotonic dystrophy syndrome" EXACT []
synonym: "Steinerts disease" EXACT []
xref: GARD:8310
xref: ICD10CM:G71.11
xref: ICD9CM:359.21
xref: NCI:C84679
xref: NCI:C84914
is_a: DOID:450 ! myotonic disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:11723
name: Duchenne muscular dystrophy
def: "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. (DO)" [http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy "DO", http://omim.org/entry/300377 "DO", http://www.genome.gov/19518854 "DO"]
synonym: "childhood pseudohypertrophic muscular dystrophy" EXACT []
synonym: "DMD" EXACT []
synonym: "Duchenne and Becker muscular dystrophy" EXACT []
synonym: "Duchenne-Becker muscular dystrophy" EXACT []
synonym: "Duchenne Type Progressive Muscular Dystrophy" EXACT []
synonym: "DYSTROPHINOPATHIES" EXACT []
synonym: "INTERMEDIATE MUSCULAR DYSTROPHY" NARROW []
synonym: "muscular dystrophy, Duchenne and Becker types" EXACT []
synonym: "muscular dystrophy, Duchenne type" EXACT []
synonym: "pseudohypertrophic muscular dystrophy" EXACT []
synonym: "pseudohypertrophic progressive muscular dystrophy, Duchenne type" EXACT []
synonym: "X-linked DMD-related dystrophinopathy" RELATED []
xref: EFO:0000429
xref: GARD:6291
xref: MESH:D020388
xref: MIM:310200
xref: MONDO:0010679
xref: NCI:C75482
xref: OMIA:001081
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:11724
name: limb-girdle muscular dystrophy
def: "A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. (DO)" [http://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy "DO", http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy "DO", http://www.ncbi.nlm.nih.gov/books/NBK1408/ "DO"]
synonym: "Erb's muscular dystrophy" EXACT []
synonym: "Leyden-Mbius muscular dystrophy" EXACT []
synonym: "limb-girdle muscular dystrophies" EXACT []
synonym: "LIMB-GIRDLE MUSCULAR DYSTROPHY, DOMINANT" NARROW []
synonym: "LIMB-GIRDLE MUSCULAR DYSTROPHY, RECESSIVE" NARROW []
synonym: "Limb-Girdle Syndrome" EXACT []
synonym: "myopathic limb-girdle syndrome" EXACT []
xref: EFO:0000758
xref: GARD:6907
xref: ICD10CM:G71.03
xref: MESH:D049288
xref: MIM:PS609308
xref: MONDO:0016971
xref: NCI:C84828
xref: ORDO:263
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:11725
name: Cornelia de Lange syndrome
def: "A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. (DO)" [http://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome "DO", http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome "DO", http://www.omim.org/entry/122470 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract "DO"]
synonym: "BDLS" EXACT []
synonym: "Brachmann De Lange syndrome" EXACT []
synonym: "CDL" EXACT []
synonym: "CDLS" EXACT []
synonym: "de Lange's syndrome" EXACT []
synonym: "de Lange syndrome" EXACT []
synonym: "typus degenerativus amstelodamensis" EXACT []
synonym: "X-linked CDLS" EXACT []
xref: GARD:10109
xref: MESH:D003635
xref: MIM:PS122470
xref: NCI:C75016
xref: ORDO:199
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:11726
name: Emery-Dreifuss muscular dystrophy
def: "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. (DO)" [http://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy "DO", http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy "DO"]
synonym: "autosomal dominant Emery Dreifuss muscular dystrophy" NARROW []
synonym: "autosomal recessive Emery Dreifuss muscular dystrophy" NARROW []
synonym: "benign scapuloperoneal muscular dystrophy with cardiomyopathy" EXACT []
synonym: "benign scapuloperoneal muscular dystrophy with early contractures" EXACT []
synonym: "EDMD" EXACT []
synonym: "Emery Dreifuss syndrome" EXACT []
synonym: "Emery-Dreifuss type muscular dystrophy" EXACT []
synonym: "humeroperoneal neuromuscular disease" EXACT []
synonym: "X-linked Emery-Dreifuss muscular dystrophy" NARROW []
xref: EFO:0000463
xref: GARD:6329
xref: MESH:D020389
xref: MIM:PS310300
xref: MONDO:0016830
xref: NCI:C84685
xref: ORDO:261
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:11727
name: facioscapulohumeral muscular dystrophy
def: "An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)" [MESH:D020391]
synonym: "facioscapulohumeral atrophies" EXACT []
synonym: "facioscapulohumeral atrophy" EXACT []
synonym: "Facio-Scapulo-Humeral Dystrophy" EXACT []
synonym: "facioscapulohumeral muscular dystrophies" EXACT []
synonym: "Facioscapulohumeral Type Progressive Muscular Dystrophy" EXACT []
synonym: "Facioscapuloperoneal Muscular Dystrophy" EXACT []
synonym: "FMD" EXACT []
synonym: "FSHD" EXACT []
synonym: "FSH Muscular Dystrophy" EXACT []
synonym: "Landouzy-Dejerine dystrophies" EXACT []
synonym: "Landouzy Dejerine dystrophy" EXACT []
synonym: "Landouzy-Dejerine muscular dystrophy" EXACT []
xref: EFO:0000491
xref: GARD:9941
xref: ICD10CM:G71.02
xref: MESH:D020391
xref: MIM:PS158900
xref: MONDO:0001347
xref: NCI:C84704
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:11729
name: Lyme disease
def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. (DO)" [http://www.cdc.gov/lyme/transmission/index.html "DO"]
synonym: "Bannwarth syndrome" EXACT []
synonym: "Bannworth's syndrome" EXACT []
synonym: "Lyme Arthritis" EXACT []
synonym: "Lyme Borreliosis" EXACT []
synonym: "lyme neuroborreliosis" EXACT []
synonym: "neuroborreliosis" EXACT []
synonym: "neurological Lyme disease" EXACT []
xref: EFO:0008510
xref: GARD:12073
xref: ICD10CM:A69.2
xref: ICD9CM:088.81
xref: MESH:D008193
xref: NCI:C45161
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9004477 ! Borrelia Infections

[Term]
id: DOID:11736
name: odontoclasia
def: "The active destruction of the deciduous teeth of children by a process that seems to differ from caries. One of its distinguishing features is that the permanent teeth are not affected. B. G. Bibby, Food and the Teeth (1990) 270:61." []
xref: ICD9CM:521.05
xref: RDO:9002438
is_a: DOID:216 ! dental caries
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:11746
name: parametrium malignant neoplasm
def: "A uterine adnexa cancer that is located_in the parametrium. (DO)" [https://www.icd10data.com/ICD10CM/Codes/C00-D49/C51-C58/C57-/C57.3 "DO"]
xref: ICD10CM:C57.3
xref: ICD9CM:183.4
is_a: DOID:11747 ! uterine adnexa cancer
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:11747
name: uterine adnexa cancer
def: "A uterine cancer that is located_in the adnexa. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6043913 "DO"]
xref: ICD10CM:C57.4
xref: ICD9CM:183
xref: ICD9CM:183.9
is_a: DOID:363 ! uterine cancer
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:11748
name: round ligament malignant neoplasm
def: "A uterine adnexa cancer that is located_in the round ligament. (DO)" [https://www.icd10data.com/ICD10CM/Codes/C00-D49/C51-C58/C57-/C57.20 "DO"]
synonym: "malignant neoplasm of round ligament" EXACT []
synonym: "malignant neoplasm of round ligament of uterus" EXACT []
xref: ICD10CM:C57.2
xref: ICD9CM:183.5
is_a: DOID:11747 ! uterine adnexa cancer
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:11750
name: Bordetella parapertussis whooping cough
def: "A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose. (DO)" [http://en.wikipedia.org/wiki/Pertussis "DO"]
xref: ICD10CM:A37.1
xref: ICD9CM:033.1
is_a: DOID:1116 ! pertussis
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:11752
name: acute endophthalmitis
xref: ICD9CM:360.01
xref: RDO:9003030
is_a: DOID:9724 ! purulent endophthalmitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11754
name: siderosis of eye
def: "An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30787536 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3390063 "DO"]
synonym: "siderosis of globe" EXACT []
xref: ICD10CM:H44.32
xref: ICD9CM:360.23
is_a: DOID:9799 ! eye degenerative disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11755
name: choledocholithiasis
def: "A common bile duct disease characterized by the presence of at least one gallstone in the common bile duct. (DO)" [https://medlineplus.gov/ency/article/000274.htm "DO", https://www.ncbi.nlm.nih.gov/books/NBK441961/ "DO"]
synonym: "common bile duct cholelithiasis" EXACT []
xref: EFO:1000865
xref: MESH:D042883
is_a: DOID:10211 ! cholelithiasis
is_a: DOID:4137 ! common bile duct disease

[Term]
id: DOID:11758
name: iron deficiency anemia
def: "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells. (DO)" [https://medlineplus.gov/ency/article/000584.htm "DO", https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/iron-deficiency-anemia "DO"]
synonym: "iron deficiency anemias" EXACT []
xref: ICD9CM:280.8
xref: MESH:D018798
xref: MONDO:0001356
is_a: DOID:0050642 ! hypochromic microcytic anemia
is_a: DOID:2351 ! iron metabolism disease
is_a: DOID:5113 ! nutritional deficiency disease

[Term]
id: DOID:11759
name: hypochromic anemia
def: "An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. (DO)" [https://en.wikipedia.org/wiki/Hypochromic_anemia "DO", MESH:D000747]
synonym: "chloroses" EXACT []
synonym: "chlorosis" EXACT []
synonym: "hypochromic anemias" EXACT []
xref: ICD10CM:D50
xref: MESH:D000747
xref: MONDO:0001357
xref: NCI:C34380
is_a: DOID:2355 ! anemia

[Term]
id: DOID:1176
name: bronchial disease
def: "A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11685087 "DO"]
synonym: "bronchial diseases" EXACT []
xref: EFO:1002018
xref: MESH:D001982
is_a: DOID:0050161 ! lower respiratory tract disease

[Term]
id: DOID:11760
name: Kohler's disease
def: "An osteochondrosis that results_in death and collapse located_in navicular bone of foot. (DO)" [http://en.wikipedia.org/wiki/K%C3%B6hler_disease "DO"]
synonym: "juvenile osteochondrosis of foot" EXACT []
synonym: "Kohler disease" EXACT []
xref: GARD:6842
xref: ICD9CM:732.5
is_a: DOID:8125 ! osteochondrosis

[Term]
id: DOID:11766
name: blind hypotensive eye
xref: ICD9CM:360.41
xref: RDO:9004882
is_a: DOID:790 ! ocular hypotension
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:11771
name: spontaneous ocular nystagmus
synonym: "ocular nystagmus" EXACT []
synonym: "searching eye movements" EXACT []
synonym: "visual deprivation nystagmus" EXACT []
xref: ICD10CM:H55.03
xref: ICD9CM:379.53
xref: RDO:9004265
is_a: DOID:9650 ! pathologic nystagmus
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:11772
name: leukocoria
synonym: "leucocoria" EXACT []
xref: ICD10CM:H44.53
xref: ICD9CM:360.44
is_a: DOID:9799 ! eye degenerative disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11776
name: absolute glaucoma
def: "A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669490/ "DO"]
synonym: "blind hypertensive eye" EXACT []
xref: ICD9CM:360.42
is_a: DOID:1686 ! glaucoma
is_a: DOID:9799 ! eye degenerative disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11781
name: regular astigmatism
xref: ICD10CM:H52.22
xref: ICD9CM:367.21
is_a: DOID:11782 ! astigmatism
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:11782
name: astigmatism
alt_id: MIM:603047
def: "A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. (DO)" [http://en.wikipedia.org/wiki/Astigmatism_%28eye%29 "DO"]
synonym: "corneal astigmatism" NARROW []
xref: EFO:0004222
xref: EFO:1002040
xref: ICD10CM:H52.2
xref: ICD9CM:367.2
xref: MESH:D001251
is_a: DOID:9835 ! refractive error

[Term]
id: DOID:11783
name: necrosis of ear ossicle
synonym: "partial loss or necrosis of ear ossicles" EXACT []
xref: ICD9CM:385.24
is_a: DOID:2742 ! auditory system disease
is_a: DOID:5100 ! middle ear disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:11786
name: splenic sequestration
xref: ICD9CM:289.52
is_a: DOID:2529 ! splenic disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:11787
name: chronic congestive splenomegaly
xref: ICD10CM:D73.2
xref: ICD9CM:289.51
is_a: DOID:2529 ! splenic disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:11793
name: phthisical cornea
xref: ICD9CM:371.05
is_a: DOID:1237 ! corneal degeneration
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:11797
name: chronic laryngitis
def: "A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. (DO)" [http://en.wikipedia.org/wiki/Laryngitis "DO", http://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263 "DO"]
xref: ICD10CM:J37.0
xref: ICD9CM:476.0
xref: NCI:C26975
is_a: DOID:3437 ! laryngitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:118
name: pericardial effusion
def: "A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. (DO)" [http://en.wikipedia.org/wiki/Pericardial_effusion "DO"]
synonym: "chylopericardium" EXACT []
synonym: "chylopericardiums" EXACT []
synonym: "pericardial effusions" EXACT []
xref: MESH:D010490
xref: NCI:C3319
is_a: DOID:0050829 ! pericardium disease

[Term]
id: DOID:11801
name: protein-energy malnutrition
def: "A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation. (DO)" [https://en.wikipedia.org/wiki/Protein%E2%80%93energy_malnutrition "DO"]
synonym: "protein calorie malnutrition" EXACT []
synonym: "protein-energy malnutritions" EXACT []
xref: EFO:0009563
xref: ICD10CM:E46
xref: ICD9CM:263.9
xref: MESH:D011502
xref: NCI:C34952
is_a: DOID:5113 ! nutritional deficiency disease
is_a: DOID:9004989 ! Protein Deficiency

[Term]
id: DOID:11809
name: bladder neck cancer
synonym: "malignant neoplasm of urinary bladder neck" EXACT []
synonym: "malignant tumor of bladder neck" EXACT []
xref: ICD10CM:C67.5
xref: ICD9CM:188.5
is_a: DOID:11054 ! urinary bladder cancer
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:11811
name: urinary bladder posterior wall cancer
synonym: "malignant neoplasm of posterior wall of urinary bladder" EXACT []
xref: ICD10CM:C67.4
xref: ICD9CM:188.4
xref: RDO:9001948
is_a: DOID:11054 ! urinary bladder cancer
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:11812
name: bladder sarcoma
def: "A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. (DO)" [https://my.clevelandclinic.org/health/diseases/16512-genitourinary-sarcomas "DO"]
synonym: "sarcoma of bladder" EXACT []
synonym: "sarcoma of the urinary bladder" EXACT []
xref: NCI:C4669
is_a: DOID:11054 ! urinary bladder cancer
is_a: DOID:1115 ! sarcoma
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:11813
name: bladder trigone cancer
synonym: "malignant neoplasm of trigone of urinary bladder" EXACT []
synonym: "malignant tumor of trigone of bladder" EXACT []
synonym: "malignant tumor of trigone of urinary bladder" EXACT []
xref: ICD10CM:C67.0
xref: ICD9CM:188.0
xref: RDO:9001950
is_a: DOID:11054 ! urinary bladder cancer
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:11814
name: urinary bladder anterior wall cancer
synonym: "malignant neoplasm of anterior wall of urinary bladder" EXACT []
xref: ICD10CM:C67.3
xref: ICD9CM:188.3
xref: RDO:9001951
is_a: DOID:11054 ! urinary bladder cancer
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:11816
name: vitreous syneresis
alt_id: RDO:9003048
synonym: "Vitreous degeneration" EXACT [ICD9CM_2006:379.21]
xref: ICD10CM:H43.81
xref: ICD9CM:379.21
xref: RDO:9003069
is_a: DOID:9720 ! vitreous disease
is_a: DOID:9799 ! eye degenerative disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11817
name: urachus cancer
synonym: "malignant tumor of urachus" EXACT []
synonym: "urachal cancer" EXACT []
synonym: "Urachal carcinoma" EXACT []
xref: GARD:7836
xref: ICD10CM:C67.7
xref: ICD9CM:188.7
xref: MESH:C536475
is_a: DOID:11054 ! urinary bladder cancer

[Term]
id: DOID:11818
name: ureteric orifice cancer
synonym: "malignant neoplasm of ureteric orifice of urinary bladder" EXACT []
synonym: "malignant tumor of ureteric orifice" EXACT []
synonym: "orifice of the ureter" EXACT []
synonym: "orifice of the ureter cancer" EXACT []
xref: ICD10CM:C67.6
xref: ICD9CM:188.6
xref: NCI:C12337
is_a: DOID:11054 ! urinary bladder cancer
is_a: DOID:11819 ! ureter cancer
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:11819
name: ureter cancer
def: "A urinary system cancer that is located_in the ureter. (DO)" [http://en.wikipedia.org/wiki/Ureter_cancer "DO"]
synonym: "cancer of ureter" EXACT []
synonym: "malignant tumour of ureter" EXACT []
synonym: "malignant ureteral tumor" EXACT []
synonym: "ureteral cancer" EXACT []
synonym: "ureteral cancers" EXACT []
synonym: "ureter cancers" EXACT []
xref: EFO:0003844
xref: ICD10CM:C66
xref: ICD9CM:189.2
xref: MIM:191600
xref: NCI:C7543
is_a: DOID:3996 ! urinary system cancer
is_a: DOID:9003753 ! Ureteral Neoplasms
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:11820
name: bladder dome cancer
synonym: "malignant neoplasm of apex of urinary bladder" EXACT []
synonym: "malignant neoplasm of dome of urinary bladder" EXACT []
synonym: "malignant tumor of vault of bladder" EXACT []
synonym: "Superior Surface of bladder" EXACT [NCI2004_11_17:C12332]
synonym: "Superior Surface of bladder cancer" EXACT []
xref: ICD10CM:C67.1
xref: ICD9CM:188.1
xref: NCI:C12332
xref: RDO:9001953
is_a: DOID:11054 ! urinary bladder cancer
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:11821
name: bladder lymphoma
synonym: "Lymphoma of the urinary bladder" EXACT []
xref: NCI:C6164
is_a: DOID:0060058 ! lymphoma
is_a: DOID:11054 ! urinary bladder cancer
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:11823
name: hepatorenal syndrome
def: "An acute kidney failure that is characterized by severe renal vasoconstriction. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK470565/ "DO"]
xref: GARD:6610
xref: ICD10CM:K76.7
xref: ICD9CM:572.4
xref: MESH:D006530
xref: NCI:C113400
is_a: DOID:225 ! syndrome
is_a: DOID:3021 ! acute kidney failure
is_a: DOID:409 ! liver disease

[Term]
id: DOID:11824
name: multicentric reticulohistiocytosis
def: "A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. (DO)" [http://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/23130232 "DO"]
synonym: "lipoid dermatoarthritis" EXACT []
xref: GARD:7103
xref: ICD10CM:E78.81
xref: MONDO:0015347
xref: NCI:C27896
xref: ORDO:139436
is_a: DOID:225 ! syndrome
is_a: DOID:37 ! skin disease
is_a: DOID:4330 ! non-Langerhans-cell histiocytosis
is_a: DOID:848 ! arthritis
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:11829
name: degenerative myopia
def: "Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS." [MESH:D047728]
synonym: "Degenerative Myopias" EXACT []
synonym: "Pathological Myopia" EXACT []
synonym: "Pathological Myopias" EXACT []
synonym: "progressive high (degenerative) myopia" EXACT [ICD9CM_2006:360.21]
synonym: "progressive high myopia" EXACT [MTHICD9_2006:360.21]
synonym: "Progressive Myopia" EXACT []
synonym: "Progressive Myopias" EXACT []
xref: EFO:0004207
xref: ICD10CM:H44.2
xref: ICD9CM:360.21
xref: MESH:D047728
xref: NCI:C157149
xref: RDO:0007546
is_a: DOID:11830 ! myopia
is_a: DOID:9799 ! eye degenerative disease

[Term]
id: DOID:11830
name: myopia
def: "A refractive error characterized by the inability to see farther objects clearly. (DO)" [http://en.wikipedia.org/wiki/Myopia "DO", http://ghr.nlm.nih.gov/glossary=myopia "DO", http://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548 "DO"]
synonym: "myopias" EXACT []
synonym: "near-sightedness" EXACT []
synonym: "nearsightedness" EXACT []
synonym: "near vision" EXACT []
synonym: "short-sightedness" EXACT []
xref: EFO:0003927
xref: ICD10CM:H52.1
xref: ICD9CM:367.1
xref: MESH:D009216
xref: MIM:PS160700
xref: MONDO:0001384
xref: NCI:C102533
is_a: DOID:9835 ! refractive error

[Term]
id: DOID:11831
name: cortical blindness
def: "Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)" [MESH:D019575]
synonym: "Anton's Syndrome" EXACT []
synonym: "Anton Babinski syndrome" EXACT []
synonym: "Antons Syndrome" EXACT []
synonym: "Anton Syndrome" EXACT []
synonym: "Blindness, Cortical, Post-Ictal" EXACT []
synonym: "Blindness, Cortical, Transient" EXACT []
synonym: "Psychic Denial of Blindness" EXACT []
synonym: "Reversible Cortical Blindness" EXACT []
synonym: "Reversible Cortical Blindnesses" EXACT []
synonym: "Transient Anton's Syndrome" EXACT []
synonym: "Transient Antons Syndrome" EXACT []
synonym: "transient Anton syndrome" EXACT []
xref: ICD10CM:H47.61
xref: ICD9CM:377.75
xref: MESH:D019575
xref: NCI:C118707
is_a: DOID:1432 ! blindness
is_a: DOID:5691 ! visual cortex disease

[Term]
id: DOID:11832
name: visual epilepsy
def: "Visual seizures mainly present as epileptic auras, but can be simple hallucinations related with an occipital origin, or complex hallucinations associated with more anterior regions of the brain. The appearance of lateralised visual phenomena suggests an origin located in the contralateral hemisphere." [PMID:25760720]
synonym: "Childhood occipital visual epilepsy" EXACT []
synonym: "COVE" EXACT []
synonym: "Gastaut syndrome" EXACT []
synonym: "idiopathic childhood occipital epilepsy–Gastaut type" EXACT []
synonym: "late onset benign occipital epilepsy" EXACT []
synonym: "Sensory Seizure" EXACT []
synonym: "Sensory Seizures" EXACT []
synonym: "Somatosensory Seizure" EXACT []
synonym: "somatosensory seizures" EXACT []
synonym: "visual seizure" EXACT []
synonym: "visual seizures" EXACT []
xref: MONDO:0001386
xref: NCI:C3980
is_a: DOID:1826 ! epilepsy
is_a: DOID:5691 ! visual cortex disease
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:11836
name: clubfoot
alt_id: MIM:119800
def: "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. (DO)" [http://en.wikipedia.org/wiki/Club_foot "DO", https://www.ncbi.nlm.nih.gov/pubmed/17610748 "DO"]
synonym: "BILATERAL TALIPES EQUINOVARUS" NARROW []
synonym: "CCF" EXACT []
synonym: "clubfeet" EXACT []
synonym: "Congenital Clubfeet" EXACT []
synonym: "Congenital Clubfoot" EXACT []
synonym: "congenital clubfoot with or without deficiency of long bones and/or mirror-image polydactyly" EXACT []
synonym: "Congenital equinovarus" EXACT [MTHICD9_2006:754.51]
synonym: "Congenital Talipes Equinovarus" EXACT []
synonym: "Equinovarus" EXACT []
synonym: "Equinovarus deformity of foot" EXACT [SNOMEDCT_2005_07_31:249808002]
synonym: "Idiopathic congenital talipes equinovarus" EXACT []
synonym: "pie torcido" EXACT []
synonym: "pie torcidos" EXACT []
synonym: "PITX1-RELATED CONDITION" EXACT []
synonym: "talipes equinovarus" EXACT []
xref: ICD10CM:Q66.0
xref: ICD10CM:Q66.89
xref: ICD9CM:754.51
xref: MESH:D003025
xref: NCI:C188148
xref: NCI:C84641
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9007152 ! Talipes

[Term]
id: DOID:11838
name: penis sarcoma
def: "A sarcoma and malignant neoplasm of penis that is located_in the penis. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020210/ "DO"]
synonym: "sarcoma of penis" EXACT []
xref: NCI:C7730
is_a: DOID:1115 ! sarcoma
is_a: DOID:11615 ! penile cancer
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:11839
name: glans penis cancer
synonym: "malignant neoplasm of glans penis" EXACT []
synonym: "malignant tumor of glans penis" EXACT []
synonym: "malignant tumour of glans penis" EXACT []
xref: ICD10CM:C60.1
xref: ICD9CM:187.2
xref: RDO:9002242
is_a: DOID:11615 ! penile cancer
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:1184
name: nephrotic syndrome
def: "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. (DO)" [https://en.wikipedia.org/wiki/Nephrotic_syndrome "DO", https://www.niddk.nih.gov/health-information/kidney-disease/nephrotic-syndrome-adults "DO"]
synonym: "NEPHROTIC RANGE PROTEINURIA" NARROW []
synonym: "Nephrotic Syndromes" EXACT []
xref: EFO:0004255
xref: ICD9CM:581
xref: MESH:D009404
xref: NCI:C34845
is_a: DOID:225 ! syndrome
is_a: DOID:2527 ! nephrosis

[Term]
id: DOID:11840
name: coronary artery vasospasm
alt_id: MIM:163729
def: "Spasm of the large- or medium-sized coronary arteries." [MESH:D003329]
synonym: "coronary artery spasm" EXACT []
synonym: "Coronary artery spasm 1, susceptibility to" NARROW []
synonym: "Coronary artery spasm 2, susceptibility to" NARROW []
synonym: "Coronary artery spasm 3, susceptibility to" NARROW []
synonym: "Coronary Artery Vasospasms" EXACT []
synonym: "Coronary Vasospasm" EXACT []
synonym: "Coronary Vasospasms" EXACT []
xref: EFO:0004225
xref: MESH:D003329
xref: NCI:C34515
is_a: DOID:3393 ! coronary artery disease
is_a: DOID:9000528 ! Coronary Disease

[Term]
id: DOID:11843
name: coronary artery anomaly
synonym: "congenital anomaly of coronary artery" EXACT []
synonym: "congenital coronary artery anomaly" EXACT []
synonym: "coronary artery abnormality" EXACT []
xref: GARD:1534
xref: ICD9CM:746.85
is_a: DOID:3393 ! coronary artery disease
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:11847
name: coronary thrombosis
alt_id: RDO:0005278
def: "Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." [MESH:D003328]
synonym: "coronary artery thrombosis" EXACT []
synonym: "coronary thromboses" EXACT []
xref: EFO:1000883
xref: ICD10CM:I22
xref: MESH:D003328
is_a: DOID:0060903 ! thrombosis
is_a: DOID:3393 ! coronary artery disease

[Term]
id: DOID:11850
name: transient refractive change
xref: ICD9CM:367.81
xref: RDO:9004037
is_a: DOID:9835 ! refractive error
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:11851
name: indeterminate leprosy
def: "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. (DO)" [https://rarediseases.org/rare-diseases/leprosy/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875986/ "DO"]
synonym: "uncharacteristic leprosy" EXACT []
xref: ICD10CM:A30.0
xref: ICD9CM:030.2
is_a: DOID:1024 ! leprosy
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:11853
name: monocular exotropia
xref: ICD10CM:H50.11
xref: ICD9CM:378.11
is_a: DOID:1143 ! exotropia
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:11864
name: peripheral focal chorioretinitis
xref: ICD9CM:363.04
xref: RDO:9003511
is_a: DOID:1979 ! focal chorioretinitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:1187
name: tibial neuropathy
def: "Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" [MESH:D020429]
synonym: "internal popliteal neuropathies" EXACT []
synonym: "Internal Popliteal Neuropathy" EXACT []
synonym: "Lateral Plantar Neuropathies" EXACT []
synonym: "Lateral Plantar Neuropathy" EXACT []
synonym: "Medial Plantar Nerve Disease" EXACT []
synonym: "Medial Plantar Neuropathies" EXACT []
synonym: "Medial Plantar Neuropathy" EXACT []
synonym: "Medial Popliteal Neuropathies" EXACT []
synonym: "Medial Popliteal Neuropathy" EXACT []
synonym: "Posterior Tibial Nerve Diseases" EXACT []
synonym: "Posterior Tibial Neuropathies" EXACT []
synonym: "Posterior Tibial Neuropathy" EXACT []
synonym: "Post-Traumatic Tibial Neuropathies" EXACT []
synonym: "Post-Traumatic Tibial Neuropathy" EXACT []
synonym: "Tibial Nerve Disease" EXACT []
synonym: "Tibial Nerve Diseases" EXACT []
synonym: "tibial neuropathies" EXACT []
xref: EFO:1001213
xref: MESH:D020429
is_a: DOID:1188 ! mononeuropathy

[Term]
id: DOID:11870
name: Pick's disease
alt_id: MIM:172700
def: "A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK562226/ "DO", MESH:D020774]
synonym: "circumscribed lobar atrophy of the brain" EXACT []
synonym: "circumscribed lobar brain atrophy" EXACT []
synonym: "dementia in Pick's disease" EXACT []
synonym: "Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions" EXACT []
synonym: "Lobar Atrophies (Brain)" EXACT []
synonym: "Lobar Atrophy (Brain)" EXACT []
synonym: "Lobar Atrophy Of Brain" EXACT []
synonym: "Lobar Atrophy of the Brain" EXACT []
synonym: "Pick Disease" EXACT []
synonym: "Pick Disease Of Brain" EXACT []
synonym: "Pick Disease of the Brain" EXACT []
synonym: "Picks disease" EXACT []
synonym: "Picks disease of brain" EXACT []
xref: EFO:0003096
xref: GARD:7392
xref: ICD10CM:G31.01
xref: ICD9CM:331.11
xref: MESH:D020774
xref: NCI:C85008
is_a: DOID:9255 ! frontotemporal dementia

[Term]
id: DOID:11871
name: macular keratitis
xref: ICD10CM:H16.11
xref: ICD9CM:370.22
is_a: DOID:4677 ! keratitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:11874
name: abnormal threshold of rods
synonym: "abnormal dark adaptation curve" EXACT [ICD9CM_2006:368.63]
xref: ICD10CM:H53.61
xref: ICD9CM:368.63
xref: RDO:9003333
is_a: DOID:8499 ! night blindness
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:11875
name: denture stomatitis
def: "Inflammation of the mouth due to denture irritation." [MESH:D013282]
synonym: "Denture sore mouth" EXACT [MTHICD9_2006:528.9]
synonym: "Denture Stomatitides" EXACT []
xref: EFO:1000893
xref: ICD10CM:K12.1
xref: MESH:D013282
xref: RDO:0006625
is_a: DOID:9637 ! stomatitis

[Term]
id: DOID:1188
name: mononeuropathy
def: "A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve. (DO)" [https://medlineplus.gov/ency/article/000780.htm "DO"]
synonym: "mononeuropathies" EXACT []
synonym: "mononeuropathy multiplex syndrome" EXACT []
synonym: "mononeuropathy multiplex syndromes" EXACT []
xref: EFO:0009558
xref: ICD10CM:G58.9
xref: MESH:D020422
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:870 ! neuropathy

[Term]
id: DOID:11885
name: ureteral benign neoplasm
synonym: "neoplasm of ureter" EXACT []
synonym: "ureteral tumor" EXACT []
xref: NCI:C3427
is_a: DOID:731 ! urinary system benign neoplasm
is_a: DOID:9003753 ! Ureteral Neoplasms
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:11887
name: ureter leiomyoma
def: "An ureteral benign neoplasm that derives_from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23894911 "DO"]
synonym: "ureteral leiomyoma" EXACT []
xref: NCI:C6161
is_a: DOID:11885 ! ureteral benign neoplasm
is_a: DOID:127 ! leiomyoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:11888
name: schwannoma of ureter
synonym: "ureteral schwannoma" EXACT []
xref: NCI:C6162
is_a: DOID:11885 ! ureteral benign neoplasm
is_a: DOID:3192 ! neurilemmoma
is_a: DOID:956 ! peripheral nerve schwannoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:11889
name: female breast nipple and areola cancer
def: "A female breast cancer that is located_in the nipple and areola. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22647686 "DO"]
synonym: "malignant neoplasm of nipple and areola of female breast" EXACT []
synonym: "malignant neoplasm of nipple or areola of female breast" EXACT []
xref: ICD9CM:174.0
xref: RDO:9001784
is_a: DOID:0050671 ! female breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:119
name: vaginal cancer
def: "A female reproductive system cancer that is located_in the vagina. (DO)" [http://www.cancer.gov/dictionary?CdrID=523460 "DO"]
synonym: "cancer of the vagina" EXACT []
synonym: "cancer of vagina" EXACT []
synonym: "malignant neoplasm of vagina" EXACT []
synonym: "malignant tumor of vagina" EXACT []
synonym: "malignant vaginal tumor" EXACT []
synonym: "vagina cancer" EXACT []
synonym: "vagina cancers" EXACT []
synonym: "vaginal cancers" EXACT []
xref: GARD:9348
xref: ICD10CM:C52
xref: ICD9CM:184.0
xref: NCI:C3437
xref: NCI:C7410
is_a: DOID:120 ! female reproductive organ cancer
is_a: DOID:9006698 ! Vaginal Neoplasms
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:11905
name: labium majus cancer
def: "A vulva cancer that is located_in the labium majus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16006794/ "DO"]
synonym: "malignant neoplasm of labia majora" EXACT []
synonym: "malignant tumor of labia majora" EXACT []
xref: ICD10CM:C51.0
xref: ICD9CM:184.1
xref: NCI:C7638
is_a: DOID:1245 ! vulva cancer
is_a: DOID:4159 ! skin cancer
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:11907
name: ecthyma
def: "An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)" [MESH:D004473]
synonym: "ecthymas" EXACT []
xref: EFO:1000689
xref: MESH:D004473
is_a: DOID:4223 ! pyoderma
is_a: DOID:8504 ! impetigo
is_a: DOID:9003209 ! Bacterial Skin Diseases
is_a: DOID:9006844 ! Streptococcal Infections

[Term]
id: DOID:11914
name: gastroparesis
def: "Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS." [MESH:D018589]
synonym: "gastric atonia" EXACT []
synonym: "Gastric Stases" EXACT []
synonym: "Gastric Stasis" EXACT []
synonym: "Gastroparalysis" EXACT [MTHICD9_2006:536.3]
synonym: "Gastropareses" EXACT []
synonym: "gastroparesis syndrome" EXACT []
xref: EFO:1000948
xref: ICD10CM:K31.84
xref: ICD9CM:536.3
xref: MESH:D018589
xref: NCI:C80512
is_a: DOID:1159 ! functional gastric disease
is_a: DOID:76 ! stomach disease
is_a: DOID:9005246 ! Paralysis

[Term]
id: DOID:11917
name: tinea cruris
def: "A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. (DO)" [http://en.wikipedia.org/wiki/Tinea_cruris "DO"]
synonym: "dermatophytosis of groin & perianal area" EXACT []
synonym: "dermatophytosis of groin and perianal area" EXACT []
synonym: "Dhobie itch" EXACT []
xref: ICD9CM:110.3
xref: MESH:D000084002
xref: NCI:C34535
is_a: DOID:8913 ! dermatophytosis

[Term]
id: DOID:1192
name: peripheral nervous system neoplasm
def: "A nervous system cancer that is located in the peripheral nervous system. (DO)" [http://en.wikipedia.org/wiki/Peripheral_nervous_system "DO"]
synonym: "neoplasm of peripheral nerve" EXACT []
synonym: "peripheral nerve neoplasm" EXACT []
synonym: "peripheral nerve neoplasms" EXACT []
synonym: "Peripheral Nerve Neoplasms, Benign" EXACT []
synonym: "Peripheral Nerve Neoplasms, Malignant" EXACT []
synonym: "Peripheral Nerve Neoplastic Infiltration" EXACT []
synonym: "Peripheral Nerve Tumor" EXACT []
synonym: "Peripheral Nerve Tumors" EXACT []
synonym: "peripheral nervous system benign neoplasms" EXACT []
synonym: "peripheral nervous system malignant neoplasms" EXACT []
synonym: "tumor of PNS" EXACT []
synonym: "tumour of cranial and spinal nerves" EXACT []
xref: EFO:0002431
xref: MESH:D010524
xref: NCI:C3321
xref: NCI:C4972
is_a: DOID:3093 ! nervous system cancer
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9006557 ! Nervous System Neoplasms

[Term]
id: DOID:11920
name: tracheal cancer
def: "A respiratory system cancer that is located_in the trachea. (DO)" [http://en.wikipedia.org/wiki/Lung_cancer "DO"]
synonym: "malignant neoplasm of trachea" EXACT []
synonym: "malignant tracheal tumor" EXACT []
synonym: "malignant tumor of trachea" EXACT []
xref: ICD10CM:C33
xref: ICD9CM:162.0
xref: NCI:C9346
is_a: DOID:0050615 ! respiratory system cancer
is_a: DOID:9003134 ! tracheal neoplasm
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:11934
name: head and neck cancer
def: "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. (DO)" [http://apps.who.int/bookorders/anglais/detart1.jsp?sesslan=1&codlan=1&codcol=70&codcch=9 "DO", http://en.wikipedia.org/wiki/Head_and_neck_cancer "DO", http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck "DO", http://www.cancer.gov/dictionary?CdrID=257519 "DO"]
synonym: "cancer of head and neck" EXACT []
synonym: "head/neck neoplasm" EXACT []
synonym: "head and neck malignant neoplasia" EXACT []
synonym: "head and neck neoplasm" EXACT []
synonym: "head and neck tumours" EXACT []
synonym: "tumor of head and neck" EXACT []
xref: EFO:0006859
xref: GARD:12425
xref: NCI:C3077
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:9006169 ! Head and Neck Neoplasms
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:11949
name: Creutzfeldt-Jakob disease
alt_id: MIM:123400
def: "A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))" [MESH:D007562]
synonym: "CJD" EXACT []
synonym: "Creutzfeldt Jacob Disease" EXACT []
synonym: "Creutzfeldt Jacob syndrome" EXACT []
synonym: "CREUTZFELDT-JAKOB DISEASE, FAMILIAL  CREUTZFELDT-JAKOB DISEASE, SPORADIC" NARROW []
synonym: "CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT" NARROW []
synonym: "CREUTZFELDT-JAKOB DISEASE, VARIANT" NARROW []
synonym: "Creutzfeldt-Jakob syndrome" EXACT []
synonym: "familial Creutzfeldt Jakob disease" EXACT []
synonym: "familial Creutzfeldt-Jakob diseases" EXACT []
synonym: "New Variant Creutzfeldt Jakob Disease" EXACT []
synonym: "protection against Creutzfeldt-Jakob disease" RELATED []
synonym: "sCJD" NARROW []
synonym: "subacute spongiform encephalopathies" EXACT []
synonym: "subacute spongiform encephalopathy" EXACT []
synonym: "transmissible virus dementia" EXACT []
synonym: "vCJD" NARROW []
synonym: "V CJD (variant Creutzfeldt Jakob disease)" EXACT []
xref: EFO:0004226
xref: GARD:6956
xref: ICD10CM:A81.0
xref: ICD9CM:046.1
xref: MESH:D007562
xref: NCI:C26802
is_a: DOID:1307 ! dementia
is_a: DOID:649 ! prion disease

[Term]
id: DOID:1195
name: ischemic neuropathy
synonym: "Ischemic peripheral neuropathy" EXACT []
xref: NCI:C27025
xref: RDO:9002718
is_a: DOID:870 ! neuropathy
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:11963
name: esophagitis
def: "INFLAMMATION, acute or chronic, of the ESOPHAGUS caused by BACTERIA, chemicals, or TRAUMA." [MESH:D004941]
synonym: "acute esophagitis" EXACT []
synonym: "esophagitides" EXACT []
xref: ICD10CM:K20
xref: ICD10CM:K20.9
xref: ICD9CM:530.1
xref: MESH:D004941
xref: NCI:C9224
is_a: DOID:2326 ! gastroenteritis
is_a: DOID:6050 ! esophageal disease

[Term]
id: DOID:11968
name: postmenopausal atrophic vaginitis
def: "A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20003787 "DO"]
synonym: "Atrophic Vaginitides" EXACT []
synonym: "Atrophic Vaginitis" EXACT []
synonym: "senile vaginitis" EXACT []
xref: EFO:1001271
xref: ICD10CM:N95.2
xref: ICD9CM:627.3
xref: MESH:D059268
is_a: DOID:2170 ! vaginitis

[Term]
id: DOID:11971
name: synostosis
def: "A dysostosis that results_in abnormal fusing of adjacent bones. (DO)" [http://en.wikipedia.org/wiki/Synostosis "DO", http://medical-dictionary.thefreedictionary.com/synostosis "DO"]
synonym: "synostoses" EXACT []
xref: MESH:D013580
is_a: DOID:1934 ! dysostosis
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:11975
name: coloboma of optic nerve
alt_id: MIM:120430
synonym: "COLOBOMA OF OPTIC DISC" EXACT []
synonym: "Congenital coloboma of the optic nerve" EXACT []
synonym: "MORNING GLORY DISC ANOMALY" NARROW []
synonym: "Morning glory syndrome" EXACT []
synonym: "Optic nerve coloboma" EXACT []
synonym: "OPTIC NERVE HEAD PITS, BILATERAL CONGENITAL" NARROW []
xref: GARD:13354
xref: GARD:8502
xref: ICD10CM:Q14.2
xref: ICD9CM:377.23
xref: MESH:C535970
is_a: DOID:12270 ! coloboma
is_a: DOID:1393 ! visual pathway disease

[Term]
id: DOID:11976
name: botulism
def: "A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. (DO)" [http://en.wikipedia.org/wiki/Botulism "DO", https://en.wikipedia.org/wiki/Botulism "DO", https://www.cdc.gov/botulism/index.html "DO"]
synonym: "botulism poisoning" EXACT []
synonym: "food poisoning due to clostridium botulinum" EXACT []
synonym: "infection due to clostridium botulinum" EXACT []
synonym: "intoxication with clostridium botulinum toxin" EXACT []
synonym: "toxico infectious botulism" EXACT []
xref: EFO:0005542
xref: GARD:943
xref: ICD10CM:A05.1
xref: MESH:D001906
xref: NCI:C84599
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:3602 ! toxic encephalopathy
is_a: DOID:439 ! neuromuscular junction disease
is_a: DOID:9006436 ! Foodborne Diseases
is_a: DOID:9006732 ! Clostridium Infections

[Term]
id: DOID:11981
name: morbid obesity
def: "The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2." [MESH:D009767]
synonym: "morbid obesities" EXACT []
synonym: "severe obesities" EXACT []
synonym: "severe obesity" EXACT []
xref: EFO:0001074
xref: ICD9CM:278.01
xref: MESH:D009767
xref: NCI:C34858
is_a: DOID:9970 ! obesity

[Term]
id: DOID:11983
name: Prader-Willi syndrome
alt_id: MIM:176270
def: "A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. (DO)" [https://ghr.nlm.nih.gov/condition/prader-willi-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1330/ "DO"]
synonym: "Labhart Willi Prader Fanconi syndrome" EXACT []
synonym: "Labhart Willi Syndrome" EXACT []
synonym: "Prader Labhart Willi Syndrome" EXACT []
synonym: "PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6" NARROW []
synonym: "PRADER-WILLI SYNDROME CHROMOSOME REGION" NARROW []
synonym: "PWCR" NARROW []
synonym: "PWS" EXACT []
synonym: "Royer's Syndrome" EXACT []
synonym: "Royers Syndrome" EXACT []
synonym: "Royer syndrome" EXACT []
xref: GARD:5575
xref: ICD10CM:Q87.11
xref: ICD9CM:759.81
xref: MESH:D011218
xref: NCI:C75463
xref: ORDO:739
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9970 ! obesity

[Term]
id: DOID:11984
name: hypertrophic cardiomyopathy
def: "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. (DO)" [http://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy "DO", http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747 "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ "DO"]
synonym: "CONCENTRIC HYPERTROPHIC CARDIOMYOPATHY" NARROW []
synonym: "hypertrophic cardiomyopathies" EXACT []
synonym: "hypertrophic obstructive cardiomyopathies" EXACT []
synonym: "hypertrophic obstructive cardiomyopathy" EXACT []
xref: EFO:0000538
xref: ICD9CM:425.1
xref: MESH:D002312
xref: NCI:C34449
xref: ORDO:217568
is_a: DOID:0060036 ! intrinsic cardiomyopathy
is_a: DOID:5805 ! subvalvular aortic stenosis

[Term]
id: DOID:11988
name: conjunctival concretion
xref: ICD10CM:H11.12
xref: ICD9CM:372.54
xref: RDO:9003827
is_a: DOID:11653 ! conjunctival deposit
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:11990
name: ulceroglandular tularemia
def: "A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. (DO)" [http://www.cdc.gov/tularemia/signssymptoms/ "DO"]
xref: ICD10CM:A21.0
xref: ICD9CM:021.0
is_a: DOID:2123 ! tularemia
is_a: DOID:75 ! lymphatic system disease
is_a: DOID:9003209 ! Bacterial Skin Diseases
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:11991
name: Osteopoikilosis
def: "An osteosclerosis that results_in numerous bone islands located_in skeleton. (DO)" [http://en.wikipedia.org/wiki/Osteopoikilosis "DO"]
synonym: "osteopoikiloses" EXACT []
xref: GARD:4158
xref: ICD10CM:Q78.8
xref: ICD9CM:756.53
xref: MESH:D010023
xref: NCI:C84985
is_a: DOID:4254 ! osteosclerosis
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:11994
name: atrophy of testis
xref: ICD10CM:N50.0
xref: ICD9CM:608.3
xref: NCI:C123259
is_a: DOID:2519 ! testicular disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:11996
name: spermatic cord torsion
alt_id: MIM:187400
alt_id: RDO:0006594
def: "The twisting of the SPERMATIC CORD due to an anatomical abnormality that left the TESTIS mobile and dangling in the SCROTUM. The initial effect of testicular torsion is obstruction of venous return. Depending on the duration and degree of cord rotation, testicular symptoms range from EDEMA to interrupted arterial flow and testicular pain. If blood flow to testis is absent for 4 to 6 h, SPERMATOGENESIS may be permanently lost." [MESH:D013086]
synonym: "spermatic cord torsions" EXACT []
synonym: "testicular torsion" EXACT []
synonym: "testicular torsions" EXACT []
synonym: "torsion of testicle" EXACT []
synonym: "torsion of testicular cord" EXACT []
synonym: "torsion of testis" EXACT []
xref: ICD10CM:N44.0
xref: ICD10CM:N44.00
xref: ICD10CM:N44.02
xref: ICD9CM:608.2
xref: MESH:D013086
xref: NCI:C26885
is_a: DOID:2519 ! testicular disease
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:11997
name: spermatocele
def: "A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions." [MESH:D013088]
synonym: "Epididymal Cyst" EXACT []
synonym: "Epididymal Cysts" EXACT []
synonym: "Spermatoceles" EXACT []
xref: EFO:1001189
xref: ICD10CM:N43.4
xref: ICD10CM:N43.40
xref: ICD10CM:N50.3
xref: ICD9CM:608.1
xref: MESH:D013088
xref: NCI:C120909
xref: NCI:C3865
is_a: DOID:48 ! male reproductive system disease
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:120
name: female reproductive organ cancer
def: "A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. (DO)" [http://en.wikipedia.org/wiki/Template\:Female_genital_neoplasia "DO", http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm "DO"]
synonym: "female reproductive cancer" EXACT []
synonym: "malignant Gynecologic tumor" EXACT [NCI2004_11_17:C4913]
synonym: "malignant neoplasm of female genital organ" EXACT []
xref: EFO:1001331
xref: ICD10CM:C57
xref: ICD9CM:184
xref: NCI:C3053
xref: NCI:C4913
is_a: DOID:193 ! reproductive organ cancer
is_a: DOID:9007399 ! Female Genital Neoplasms

[Term]
id: DOID:12001
name: tracheal lymphoma
synonym: "lymphoma of the trachea" EXACT []
synonym: "lymphoma of trachea" EXACT []
xref: NCI:C6248
is_a: DOID:0060058 ! lymphoma
is_a: DOID:11920 ! tracheal cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:12002
name: trachea sarcoma
def: "A sarcoma and malignant tumor of trachea that is located_in the trachea. (DO)" [http://en.wikipedia.org/wiki/Lung_cancer "DO"]
synonym: "sarcoma of the trachea" EXACT []
xref: NCI:C6050
is_a: DOID:1115 ! sarcoma
is_a: DOID:11920 ! tracheal cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:12003
name: trachea squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the trachea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26066883 "DO"]
synonym: "squamous cell carcinoma of trachea" RELATED []
synonym: "Tracheal Epidermoid carcinoma" EXACT [NCI2004_11_17:C4448]
xref: EFO:1000600
xref: NCI:C4448
xref: RDO:9002271
is_a: DOID:4876 ! trachea carcinoma
is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:1201
name: trigeminal nerve neoplasm
synonym: "neoplasm of trigeminal nerve" EXACT []
synonym: "tumor of trigeminal nerve" EXACT []
xref: NCI:C5122
is_a: DOID:2815 ! cranial nerve malignant neoplasm
is_a: DOID:561 ! trigeminal nerve disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:12010
name: anterior ischemic optic neuropathy
def: "Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)" [MESH:D018917]
synonym: "ischemic optic neuropathies" EXACT []
synonym: "ischemic optic neuropathy" EXACT []
synonym: "Optic Nerve Ischemia" EXACT []
synonym: "Optic Nerve Ischemias" EXACT []
synonym: "posterior ischemic optic neuropathy" EXACT []
xref: EFO:1000809
xref: GARD:9790
xref: ICD10CM:H47.01
xref: ICD9CM:377.41
xref: MESH:D018917
is_a: DOID:178 ! vascular disease
is_a: DOID:1891 ! optic nerve disease

[Term]
id: DOID:12016
name: frontal lobe neoplasm
synonym: "malignant neoplasm of frontal lobe" EXACT []
synonym: "neoplasm of frontal lobe" EXACT []
synonym: "tumor of frontal lobe" EXACT []
xref: ICD10CM:C71.1
xref: ICD9CM:191.1
xref: NCI:C5572
xref: RDO:9004697
is_a: DOID:368 ! cerebrum cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:12028
name: Conn's syndrome
def: "An adrenal adenoma characterized by the over production of aldosterone. (DO)" [http://en.wikipedia.org/wiki/Conn%27s_syndrome "DO"]
synonym: "Conn syndrome" EXACT []
xref: GARD:7456
xref: ICD10CM:E26.01
xref: ICD9CM:255.12
xref: NCI:C34510
is_a: DOID:225 ! syndrome
is_a: DOID:446 ! primary hyperaldosteronism
is_a: DOID:656 ! adrenal adenoma
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:12029
name: sympathetic ophthalmia
def: "A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia. (DO)" [http://eyewiki.aao.org/Sympathetic_Ophthalmia "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277011/ "DO"]
synonym: "sympathetic ophthalmias" EXACT []
synonym: "sympathetic uveitides" EXACT []
synonym: "sympathetic uveitis" EXACT []
xref: EFO:1001205
xref: ICD10CM:H44.13
xref: ICD9CM:360.11
xref: MESH:D009879
is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat
is_a: DOID:12030 ! panuveitis

[Term]
id: DOID:1203
name: drug-induced mental disorder
xref: ICD9CM:292.8
xref: RDO:9003368
is_a: DOID:8646 ! substance-induced psychosis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:12030
name: panuveitis
def: "An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid. (DO)" [https://rarediseases.info.nih.gov/diseases/8577/panuveitis "DO"]
synonym: "diffuse uveitis" EXACT []
xref: EFO:1001082
xref: GARD:8577
xref: ICD10CM:H44.11
xref: ICD9CM:360.12
xref: MESH:D015864
xref: NCI:C84989
is_a: DOID:13141 ! uveitis

[Term]
id: DOID:12043
name: kernicterus due to isoimmunization
xref: EFO:1000721
xref: ICD10CM:P57.0
xref: ICD9CM:773.4
xref: NCI:C101270
is_a: DOID:11244 ! neonatal anemia
is_a: DOID:2382 ! kernicterus
is_a: DOID:2383 ! neonatal jaundice
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:1205
name: allergic disease
def: "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. (DO)" [http://en.wikipedia.org/wiki/Allergy "DO"]
synonym: "allergic hypersensitivity disease" EXACT []
synonym: "allergic reaction" EXACT []
synonym: "allergic reactions" EXACT []
synonym: "allergies" EXACT []
synonym: "allergy" EXACT []
synonym: "eye allergy" RELATED []
synonym: "hypersensitivities" EXACT []
synonym: "hypersensitivity" EXACT []
synonym: "hypersensitivity reaction type I disease" EXACT []
xref: EFO:0003785
xref: EFO:0005751
xref: ICD10CM:T78.40
xref: MESH:D006967
xref: MONDO:0005271
xref: NCI:C3114
is_a: DOID:2914 ! immune system disease

[Term]
id: DOID:12053
name: cryptococcosis
def: "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. (DO)" [http://en.wikipedia.org/wiki/Cryptococcosis "DO"]
synonym: "Busse-Buschke's disease" EXACT []
synonym: "cryptococcal infection" EXACT []
synonym: "cryptococcoses" EXACT []
synonym: "cryptococcus neoformans infection" RELATED []
synonym: "European cryptococcosis" EXACT []
synonym: "torula" EXACT []
synonym: "Toruloses" EXACT []
synonym: "torulosis" EXACT []
xref: EFO:0007229
xref: GARD:6218
xref: ICD10CM:B45
xref: ICD9CM:117.5
xref: MESH:D003453
xref: NCI:C2967
is_a: DOID:1564 ! fungal infectious disease
is_a: DOID:2473 ! opportunistic mycosis

[Term]
id: DOID:12055
name: sarcoid meningitis
synonym: "meningitis in sarcoidosis" EXACT []
xref: ICD10CM:D86.81
xref: ICD9CM:321.4
is_a: DOID:13403 ! neurosarcoidosis
is_a: DOID:9471 ! meningitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:1206
name: Rett syndrome
alt_id: MIM:312750
def: "A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. (DO)" [http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm "DO", http://www.ninds.nih.gov/disorders/rett/detail_rett.htm "DO", https://medlineplus.gov/ency/article/001536.htm "DO"]
synonym: "autism, dementia, ataxia, and loss of purposeful hand use" EXACT []
synonym: "autism, dementia, ataxia, loss of purposeful hand use syndrome" EXACT []
synonym: "cerebroatrophic hyperammonemia" EXACT []
synonym: "cerebroatrophic hyperammonemias" EXACT []
synonym: "Rett's disorder" EXACT []
synonym: "Rett's syndrome" EXACT []
synonym: "Rett disorder" EXACT []
synonym: "Retts syndrome" EXACT []
synonym: "RTS" EXACT []
synonym: "RTT" EXACT []
xref: EFO:0001079
xref: GARD:5696
xref: ICD10CM:F84.2
xref: MESH:D015518
xref: MONDO:0010726
xref: NCI:C75488
is_a: DOID:0060040 ! pervasive developmental disorder
is_a: DOID:225 ! syndrome
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:12064
name: mediastinum neurofibroma
synonym: "neurofibroma of mediastinum" EXACT []
xref: NCI:C6631
xref: RDO:9004344
is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm
is_a: DOID:962 ! neurofibroma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:12070
name: Dieulafoy lesion
synonym: "Dieulafoy lesion (hemorrhagic) of intestine" EXACT []
synonym: "Dieulafoy lesion (hemorrhagic) of stomach and duodenum" EXACT []
xref: GARD:10930
xref: ICD10CM:K31.82
xref: ICD9CM:537.84
is_a: DOID:76 ! stomach disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:12072
name: pylorospasm
xref: ICD9CM:537.81
xref: RDO:9003451
is_a: DOID:76 ! stomach disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:12084
name: transient arthropathy
synonym: "Transient arthropathy involving forearm" NARROW []
synonym: "Transient arthropathy involving hand" NARROW []
synonym: "Transient arthropathy involving lower leg" NARROW []
synonym: "Transient arthropathy involving multiple sites" NARROW []
synonym: "Transient arthropathy involving pelvic region and thigh" NARROW []
synonym: "Transient arthropathy involving shoulder region" NARROW []
synonym: "Transient arthropathy involving upper arm" NARROW []
xref: ICD9CM:716.41
is_a: DOID:2092 ! transient arthritis
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:12087
name: deep corneal vascularisation
synonym: "deep vascularization of cornea" EXACT []
xref: ICD10CM:H16.44
xref: ICD9CM:370.63
xref: RDO:9004126
is_a: DOID:11382 ! corneal neovascularization
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:1209
name: nutritional optic neuropathy
def: "An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25345287 "DO"]
xref: ICD10CM:H46.2
xref: ICD9CM:377.33
is_a: DOID:1210 ! optic neuritis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12096
name: sodoku disease
def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain. (DO)" [http://en.wikipedia.org/wiki/Rat_bite_fever "DO", http://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf "DO"]
synonym: "rat-bite fever" EXACT []
synonym: "ratbite fever" EXACT []
synonym: "rat-bite fevers" EXACT []
synonym: "ratbite fevers" EXACT []
synonym: "sodoku" EXACT []
synonym: "spirillary fever" EXACT []
synonym: "spirillosis" EXACT []
xref: EFO:1001144
xref: ICD10CM:A25.0
xref: ICD9CM:026.0
xref: MESH:D011906
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:12098
name: trigeminal neuralgia
alt_id: MIM:190400
def: "A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)" [MESH:D014277]
synonym: "epileptiform neuralgia" EXACT []
synonym: "epileptiform neuralgias" EXACT []
synonym: "Fothergill disease" EXACT []
synonym: "Idiopathic Trigeminal Neuralgia" EXACT []
synonym: "idiopathic trigeminal neuralgias" EXACT []
synonym: "Secondary Trigeminal Neuralgia" EXACT []
synonym: "Secondary Trigeminal Neuralgias" EXACT []
synonym: "Tic Douloureux" EXACT []
synonym: "trifacial neuralgia" EXACT []
synonym: "trifacial neuralgias" EXACT []
synonym: "trifocal neuralgia" EXACT []
synonym: "trigeminal neuralgias" EXACT []
xref: EFO:1001219
xref: GARD:7805
xref: ICD10CM:G50.0
xref: ICD9CM:350.1
xref: MESH:D014277
is_a: DOID:225 ! syndrome
is_a: DOID:561 ! trigeminal nerve disease

[Term]
id: DOID:121
name: vaginal disease
def: "A female reproductive system disease that is located_in the vagina. (DO)" [https://en.wikipedia.org/wiki/Vaginal_disease "DO"]
synonym: "vaginal diseases" EXACT []
xref: MESH:D014623
xref: NCI:C26910
is_a: DOID:229 ! female reproductive system disease

[Term]
id: DOID:1210
name: optic neuritis
def: "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. (DO)" [https://www.mayoclinic.org/diseases-conditions/optic-neuritis/symptoms-causes/syc-20354953 "DO"]
synonym: "anterior optic neuritides" EXACT []
synonym: "anterior optic neuritis" EXACT []
synonym: "neuropapillitides" EXACT []
synonym: "neuropapillitis" EXACT []
synonym: "optic neuritides" EXACT []
synonym: "posterior optic neuritides" EXACT []
synonym: "posterior optic neuritis" EXACT []
xref: EFO:0007405
xref: GARD:7320
xref: ICD10CM:H46
xref: ICD9CM:377.3
xref: MESH:D009902
xref: NCI:C84950
is_a: DOID:1891 ! optic nerve disease

[Term]
id: DOID:12105
name: inflammatory spondylopathy
synonym: "inflammatory spondylopathies in disease classified elsewhere" EXACT []
synonym: "inflammatory spondylopathies in disease EC" EXACT []
synonym: "inflammatory spondylopathy in disease classified elsewhere" EXACT []
xref: ICD9CM:720.81
is_a: DOID:6590 ! spondylitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:12108
name: bullous retinoschisis
xref: ICD9CM:361.12
is_a: DOID:8465 ! retinoschisis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:12117
name: pulmonary alveolar microlithiasis
alt_id: MIM:265100
def: "A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27514591/ "DO"]
xref: GARD:11894
xref: ICD10CM:J84.02
xref: ICD9CM:516.2
xref: MESH:C562405
is_a: DOID:182 ! calcinosis
is_a: DOID:850 ! lung disease

[Term]
id: DOID:12118
name: pulmonary hemosiderosis
alt_id: MIM:235500
def: "A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. (DO)" [http://en.wikipedia.org/wiki/Brown_induration "DO", http://en.wikipedia.org/wiki/Idiopathic_pulmonary_haemosiderosis "DO", https://erj.ersjournals.com/content/24/1/162.full "DO"]
synonym: "alveolar hypoventilation syndrome" EXACT []
synonym: "brown induration" EXACT []
synonym: "brown lung" EXACT []
synonym: "idiopathic pulmonary hemosiderosis" EXACT []
synonym: "pulmonary hemosiderosis with deficiency of gamma-a globulin" EXACT []
xref: ICD10CM:J84.03
xref: ICD9CM:516.1
xref: MIM:178550
xref: ORDO:99931
is_a: DOID:12119 ! hemosiderosis
is_a: DOID:850 ! lung disease

[Term]
id: DOID:12119
name: hemosiderosis
def: "An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. (DO)" [http://en.wikipedia.org/wiki/Hemosiderosis "DO"]
synonym: "haemosiderosis" EXACT []
synonym: "hemosideroses" EXACT []
xref: GARD:6595
xref: MESH:D006486
xref: NCI:C82892
is_a: DOID:9005725 ! Iron Overload

[Term]
id: DOID:12120
name: pulmonary alveolar proteinosis
def: "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. (DO)" [http://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis "DO"]
synonym: "Pulmonary Alveolar Proteinoses" EXACT []
xref: ICD10CM:J84.01
xref: ICD9CM:516.0
xref: MESH:D011649
xref: MIM:PS265120
xref: MONDO:0001437
xref: NCI:C85037
xref: ORDO:264675
is_a: DOID:850 ! lung disease

[Term]
id: DOID:12123
name: postinflammatory pulmonary fibrosis
synonym: "post-inflammatory pulmonary fibrosis" EXACT []
xref: ICD10CM:J84.10
xref: ICD9CM:515
is_a: DOID:3770 ! pulmonary fibrosis
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:12124
name: episcleritis periodica fugax
def: "A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate. (DO)" [https://eyewiki.aao.org/Episcleritis "DO"]
xref: ICD10CM:H15.11
xref: ICD9CM:379.01
is_a: DOID:11343 ! scleral disease

[Term]
id: DOID:12125
name: neurotrophic keratoconjunctivitis
def: "A degenerative disease of the corneal epithelium resulting from impaired corneal innervation. " []
xref: ICD10CM:H16.23
xref: ICD9CM:370.35
xref: RDO:9003229
is_a: DOID:9368 ! keratoconjunctivitis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:12128
name: pica disease
def: "An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. (DO)" [http://en.wikipedia.org/wiki/Pica_%28disorder%29 "DO"]
synonym: "allotriophagy" EXACT []
synonym: "geophagia" EXACT []
synonym: "pica" EXACT []
xref: ICD9CM:307.52
xref: MESH:D010842
xref: NCI:C92566
is_a: DOID:8670 ! eating disorder
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:12129
name: bulimia nervosa
alt_id: MIM:607499
def: "An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. (DO)" [http://en.wikipedia.org/wiki/Bulimia_nervosa "DO"]
synonym: "BN" EXACT []
synonym: "BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN" RELATED []
synonym: "BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1" RELATED []
synonym: "BULN1" NARROW []
synonym: "hyperorexia nervosa" EXACT []
xref: EFO:0005204
xref: ICD10CM:F50.2
xref: MESH:D052018
is_a: DOID:8670 ! eating disorder
is_a: DOID:9004099 ! Bulimia

[Term]
id: DOID:12132
name: granulomatosis with polyangiitis
alt_id: MIM:608710
def: "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. (DO)" [https://en.wikipedia.org/wiki/Granulomatosis_with_polyangiitis "DO"]
synonym: "granulomatosis with polyangiitides" EXACT []
synonym: "necrotizing respiratory granulomatosis" EXACT []
synonym: "Wegener's granulomatosis" EXACT []
synonym: "Wegener's syndrome" EXACT []
synonym: "Wegener granulomatosis" EXACT []
synonym: "Wegener granulomatosis, formerly" EXACT []
synonym: "WG" EXACT []
xref: EFO:0005297
xref: GARD:7880
xref: ICD10CM:M31.3
xref: ICD9CM:446.4
xref: MESH:D014890
xref: NCI:C3444
is_a: DOID:0060050 ! autoimmune disease of blood
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:37 ! skin disease
is_a: DOID:557 ! kidney disease
is_a: DOID:9003819 ! Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis

[Term]
id: DOID:12134
name: factor VIII deficiency
alt_id: MIM:306700
alt_id: OMIA:000437
def: "A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. (DO)" [http://en.wikipedia.org/wiki/Hemophilia_A "DO"]
synonym: "classic hemophilia" EXACT []
synonym: "classic hemophilia A" EXACT []
synonym: "classic hemophilias" EXACT []
synonym: "congenital factor 8 deficiency" EXACT []
synonym: "congenital factor VIII deficiency" EXACT []
synonym: "congenital factor VIII disorder" EXACT []
synonym: "Congenital Hemophilia A" EXACT []
synonym: "F8-RELATED CONDITION" BROAD []
synonym: "factor VIII (Okayama)" RELATED []
synonym: "haemophilia" EXACT []
synonym: "haemophilia A" EXACT []
synonym: "HEMA" EXACT []
synonym: "hemophilia" EXACT []
synonym: "hemophilia A" EXACT []
synonym: "hemophilia A, FVIII deficiency" EXACT []
synonym: "subhemophilia" EXACT []
xref: EFO:0007267
xref: GARD:6591
xref: ICD10CM:D66
xref: ICD9CM:286.0
xref: MESH:D006467
xref: MONDO:0010602
xref: NCI:C27146
xref: NCI:C3093
xref: ORDO:98878
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:12139
name: dysthymic disorder
def: "A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. (DO)" [http://en.wikipedia.org/wiki/Mood_disorder "DO"]
synonym: "dysthymia" EXACT []
synonym: "dysthymic disorders" EXACT []
xref: EFO:0008623
xref: ICD9CM:300.4
xref: MESH:D019263
xref: MONDO:0001442
xref: NCI:C34562
is_a: DOID:3324 ! mood disorder

[Term]
id: DOID:1214
name: tympanosclerosis
alt_id: MESH:D063371
def: "The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing." [MESH:D063371]
synonym: "intratympanic tympanosclerosis" EXACT []
synonym: "myringoscleroses" EXACT []
synonym: "myringosclerosis" EXACT []
synonym: "tympanic calcification" EXACT []
synonym: "tympanoscleroses" EXACT []
xref: EFO:1001812
xref: ICD9CM:385.09
xref: MESH:D000092163
is_a: DOID:2742 ! auditory system disease
is_a: DOID:5782 ! tympanic membrane disease

[Term]
id: DOID:12140
name: Chagas disease
def: "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. (DO)" [http://en.wikipedia.org/wiki/Chagas_disease "DO"]
synonym: "American trypanosomiasis" EXACT []
synonym: "Chagas' disease with digestive system involvement" EXACT []
synonym: "Chagas' disease with nervous system involvement" EXACT []
synonym: "Chagas' disease with other organ involvement" EXACT []
synonym: "South American trypanosomiasis" EXACT []
xref: EFO:0008559
xref: GARD:6030
xref: ICD9CM:086.2
xref: MESH:D014355
xref: ORDO:3386
is_a: DOID:10113 ! trypanosomiasis

[Term]
id: DOID:12143
name: neurogenic bladder
def: "Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES." [MESH:D001750]
synonym: "Atonic Neurogenic Bladder" EXACT []
synonym: "Bladder Neurogenesis" EXACT []
synonym: "Neurogenic Bladder Disorder" EXACT []
synonym: "neurogenic bladder disorders" EXACT []
synonym: "Neurogenic Dysfunction of the Urinary Bladder" EXACT []
synonym: "neurogenic urinary bladder" EXACT []
synonym: "Neurogenic Urinary Bladder, Atonic" EXACT []
synonym: "Neurogenic Urinary Bladder Disorder" EXACT []
synonym: "Neurogenic Urinary Bladder, Spastic" EXACT []
synonym: "Neurogenic Urinary Bladder, Uninhibited" EXACT []
synonym: "Neuropathic Bladder" EXACT []
synonym: "Spastic Neurogenic Bladder" EXACT []
synonym: "Uninhibited Neurogenic Bladder" EXACT []
synonym: "Urinary Bladder Neurogenesis" EXACT []
synonym: "urinary bladder neurogenic dysfunction" EXACT []
xref: ICD9CM:596.54
xref: MESH:D001750
xref: NCI:C79696
is_a: DOID:365 ! bladder disease
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:12144
name: low compliance bladder
synonym: "hyperactivity of bladder" EXACT [MTHICD9_2006:596.51]
synonym: "hypertonic bladder" EXACT [SNOMEDCT_2005_07_31:314717001]
synonym: "hypertonicity of bladder" EXACT [ICD9CM_2006:596.51]
xref: ICD9CM:596.52
xref: RDO:9003064
is_a: DOID:365 ! bladder disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:12145
name: detrusor sphincter dyssynergia
xref: ICD9CM:596.55
xref: RDO:9003072
is_a: DOID:365 ! bladder disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:12148
name: alveolar echinococcosis
def: "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. (DO)" [http://en.wikipedia.org/wiki/Echinococcosis "DO"]
synonym: "alveolococcosis" EXACT []
synonym: "echinococcus multilocularis infection" RELATED []
synonym: "multilocular hydatid" EXACT []
synonym: "small fox tapeworm" EXACT []
xref: GARD:207
xref: ICD10CM:B67.7
xref: ICD9CM:122.7
xref: MESH:C536591
is_a: DOID:1496 ! echinococcosis
is_a: DOID:409 ! liver disease
is_a: DOID:850 ! lung disease
is_a: DOID:9006925 ! Hepatic Echinococcosis
is_a: DOID:936 ! brain disease

[Term]
id: DOID:12155
name: lymphocytic choriomeningitis
def: "A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Mammarenavirus choriomeningitidis, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting. (DO)" [http://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis "DO"]
synonym: "Armstrong's Syndrome" EXACT []
synonym: "Armstrong Syndrome" EXACT []
synonym: "LCM" EXACT []
synonym: "Lymphocytic Choriomeningitis Virus Encephalomyelitis" EXACT []
synonym: "lymphocytic meningitis" EXACT []
synonym: "lymphocytic meningoencephalitis" EXACT []
xref: ICD10CM:A87.2
xref: MESH:D008216
xref: NCI:C174114
is_a: DOID:10310 ! viral meningitis
is_a: DOID:3944 ! Arenaviridae infectious disease
is_a: DOID:936 ! brain disease

[Term]
id: DOID:12156
name: arachnoiditis
def: "Acute or chronic inflammation of the arachnoid membrane of the meninges most often involving the spinal cord or base of the brain. This term generally refers to a persistent inflammatory process characterized by thickening of the ARACHNOID membrane and dural adhesions. Associated conditions include prior surgery, infections, trauma, SUBARACHNOID HEMORRHAGE, and chemical irritation. Clinical features vary with the site of inflammation, but include cranial neuropathies, radiculopathies, and myelopathies. (From Joynt, Clinical Neurology, 1997, Ch48, p25)" [MESH:D001100]
synonym: "arachnoiditides" EXACT []
synonym: "arachnoid membrane inflammation" EXACT []
synonym: "arachnoid membrane inflammations" EXACT []
xref: GARD:5839
xref: ICD10CM:G03
xref: MESH:D001100
xref: NCI:C37913
is_a: DOID:9471 ! meningitis

[Term]
id: DOID:12157
name: aseptic meningitis
def: "A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728900/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23622323 "DO"]
synonym: "acute aseptic meningitis" EXACT []
xref: EFO:1000823
xref: ICD10CM:G03.0
xref: MESH:D008582
xref: NCI:C118299
is_a: DOID:10310 ! viral meningitis
is_a: DOID:225 ! syndrome
is_a: DOID:9471 ! meningitis

[Term]
id: DOID:12161
name: peripheral retinal degeneration
synonym: "peripheral degeneration of retina" EXACT []
xref: ICD10CM:H35.4
xref: ICD9CM:362.6
xref: NCI:C34919
is_a: DOID:8466 ! retinal degeneration
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12162
name: pseudoretinitis pigmentosa
synonym: "secondary pigmentary degeneration of retina" EXACT []
synonym: "secondary pigmentary retinal degeneration" EXACT []
xref: ICD10CM:H35.45
xref: ICD9CM:362.65
is_a: DOID:12161 ! peripheral retinal degeneration
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12163
name: senile reticular retinal degeneration
synonym: "senile reticular degeneration of retina" EXACT []
xref: ICD9CM:362.64
is_a: DOID:12161 ! peripheral retinal degeneration
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12164
name: Blessig's cysts
synonym: "Blessig cysts" EXACT []
synonym: "Iwanoff's cysts" EXACT []
synonym: "Microcystoid degeneration of retina" EXACT []
synonym: "Microcystoid retinal degeneration" EXACT []
xref: ICD10CM:H35.42
xref: ICD9CM:362.62
is_a: DOID:12161 ! peripheral retinal degeneration
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12165
name: retinal lattice degeneration
synonym: "palisade degeneration of retina" EXACT []
xref: ICD10CM:H35.41
xref: ICD9CM:362.63
is_a: DOID:12161 ! peripheral retinal degeneration
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12166
name: cobblestone retinal degeneration
synonym: "Paving stone degeneration of retina" EXACT []
synonym: "Paving stone retinal degeneration" EXACT []
xref: ICD10CM:H35.43
xref: ICD9CM:362.61
is_a: DOID:12161 ! peripheral retinal degeneration
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12167
name: secondary vitreoretinal degeneration
xref: ICD10CM:H35.46
xref: ICD9CM:362.66
is_a: DOID:12161 ! peripheral retinal degeneration
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12168
name: ulnar nerve lesion
synonym: "lesion of ulnar nerve" EXACT []
xref: ICD10CM:G56.2
xref: ICD9CM:354.2
is_a: DOID:4613 ! ulnar neuropathy
is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:12169
name: carpal tunnel syndrome
def: "A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm. (DO)" [https://en.wikipedia.org/wiki/Carpal_tunnel_syndrome "DO", https://medlineplus.gov/ency/article/000433.htm "DO", https://orthoinfo.aaos.org/en/diseases--conditions/carpal-tunnel-syndrome/ "DO"]
synonym: "carpal tunnel median neuropathy" EXACT []
synonym: "CARPAL TUNNEL SYNDROME, FAMILIAL" EXACT []
synonym: "Carpal Tunnel Syndromes" EXACT []
synonym: "Compression Neuropathy, Carpal Tunnel" EXACT []
synonym: "CTS" EXACT []
synonym: "CTS - carpal tunnel syndrome" EXACT []
synonym: "Entrapment Neuropathy, Carpal Tunnel" EXACT []
synonym: "median nerve entrapment" EXACT []
synonym: "thenar amyotrophy of carpal origin" EXACT []
xref: EFO:0004143
xref: ICD10CM:G56.0
xref: ICD9CM:354.0
xref: MESH:D002349
xref: MIM:PS115430
xref: NCI:C34450
is_a: DOID:571 ! median neuropathy
is_a: DOID:573 ! nerve compression syndrome
is_a: DOID:9004498 ! Cumulative Trauma Disorders

[Term]
id: DOID:1217
name: fascioloidiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna. (DO)" [http://en.wikipedia.org/wiki/Fascioloides_magna "DO"]
synonym: "Fascioloidiases" EXACT []
xref: EFO:0007268
xref: MESH:D005213
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:888 ! fasciolopsiasis
is_a: DOID:9006372 ! Animal Helminthiasis

[Term]
id: DOID:12170
name: radial nerve lesion
synonym: "lesion of radial nerve" EXACT []
synonym: "radial nerve lesions" EXACT []
xref: EFO:1001143
xref: ICD10CM:G56.3
xref: ICD9CM:354.3
is_a: DOID:12171 ! radial neuropathy
is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex

[Term]
id: DOID:12171
name: radial neuropathy
def: "Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS." [MESH:D020425]
synonym: "crutch palsies" EXACT []
synonym: "Crutch Palsy" EXACT []
synonym: "Radial Nerve Disease" EXACT []
synonym: "Radial Nerve Diseases" EXACT []
synonym: "Radial Neuropathies" EXACT []
synonym: "Saturday Night Palsies" EXACT []
synonym: "Saturday Night Palsy" EXACT []
synonym: "superficial radial nerve lesion" EXACT []
xref: MESH:D020425
is_a: DOID:1188 ! mononeuropathy

[Term]
id: DOID:12175
name: dyshormonogenic goiter
synonym: "dyshormonogenic goitre" EXACT []
xref: ICD9CM:246.1
is_a: DOID:12176 ! goiter

[Term]
id: DOID:12176
name: goiter
def: "A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. (DO)" [http://www.thyroid.org/patients/patient_brochures/goiter.html "DO"]
synonym: "goiters" EXACT []
synonym: "goitre" EXACT []
xref: EFO:0004283
xref: ICD9CM:240.9
xref: MESH:D006042
xref: NCI:C26785
is_a: DOID:50 ! thyroid gland disease

[Term]
id: DOID:12177
name: common variable immunodeficiency
def: "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens. (DO)" [http://en.wikipedia.org/wiki/Common_variable_immunodeficiency "DO", http://www.merck.com/mmpe/sec13/ch164/ch164g.html "DO"]
synonym: "acquired agammaglobulinemia" EXACT []
synonym: "Acquired Hypogammaglobulinemia" EXACT []
synonym: "acquired hypogammaglobulinemias" EXACT []
synonym: "autosomal dominant common variable immunodeficiency" NARROW []
synonym: "common variable agammaglobulinemia" EXACT []
synonym: "Common Variable Hypogammaglobulinemia" EXACT []
synonym: "common variable hypogammaglobulinemias" EXACT []
synonym: "Common Variable Immune Deficiency" EXACT []
synonym: "COMMON VARIABLE IMMUNE DEFICIENCY, DOMINANT" NARROW []
synonym: "COMMON VARIABLE IMMUNE DEFICIENCY, RECESSIVE" NARROW []
synonym: "Common Variable Immunodeficiencies" EXACT []
synonym: "CVID" NARROW []
synonym: "IL21 DEFICIENCY" EXACT []
synonym: "late-onset immunoglobulin deficiencies" EXACT []
synonym: "late-onset immunoglobulin deficiency" EXACT []
synonym: "sporadic hypogammaglobulinemia" EXACT []
xref: EFO:0000367
xref: EFO:0020035
xref: GARD:6140
xref: ICD10CM:D83
xref: ICD9CM:279.06
xref: MESH:D017074
xref: MIM:PS607594
xref: MONDO:0015517
xref: NCI:C26725
xref: ORDO:1572
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2583 ! agammaglobulinemia
is_a: DOID:417 ! autoimmune disease

[Term]
id: DOID:12179
name: tinea corporis
def: "A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000877.htm "DO"]
synonym: "dermatophytosis of the body" EXACT []
synonym: "dermatophytosis of the trunk" EXACT []
xref: ICD9CM:110.5
is_a: DOID:8913 ! dermatophytosis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:1218
name: echinostomiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Echinostomiasis.htm "DO"]
synonym: "Echinostomiases" EXACT []
synonym: "infection by Echinochasmus" EXACT []
xref: EFO:0007246
xref: MESH:D004451
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:888 ! fasciolopsiasis

[Term]
id: DOID:12185
name: otosclerosis
def: "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. (DO)" [http://en.wikipedia.org/wiki/Otosclerosis "DO", http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/middle_ear_and_tympanic_membrane_disorders/otosclerosis.html?qt=otosclerosis&alt=sh "DO"]
synonym: "otoscleroses" EXACT []
synonym: "otospongioses" EXACT []
synonym: "otospongiosis" EXACT []
synonym: "OTS" EXACT []
xref: EFO:0004213
xref: ICD10CM:H80.80
xref: ICD9CM:387.8
xref: MESH:D010040
xref: MIM:PS166800
xref: NCI:C185242
xref: ORDO:2794
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2952 ! inner ear disease

[Term]
id: DOID:1219
name: dicrocoeliasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Dicrocoeliasis.htm "DO"]
synonym: "dicrocoeliases" EXACT []
synonym: "disease due to dicrocoeliidae" EXACT []
xref: EFO:0007234
xref: ICD10CM:B66.2
xref: MESH:D004011
is_a: DOID:888 ! fasciolopsiasis

[Term]
id: DOID:12190
name: descending colon cancer
synonym: "Ca descending colon" EXACT []
synonym: "malignant neoplasm of left colon" EXACT []
synonym: "malignant tumor of descending colon" EXACT []
xref: ICD10CM:C18.6
xref: ICD9CM:153.2
is_a: DOID:219 ! colon cancer
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:12191
name: splenic flexure cancer
synonym: "Ca splenic flexure - colon" EXACT []
synonym: "malignant neoplasm of splenic flexure" EXACT []
synonym: "malignant tumor of splenic flexure" EXACT []
xref: ICD10CM:C18.5
xref: ICD9CM:153.7
is_a: DOID:12190 ! descending colon cancer
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:12192
name: sigmoid colon cancer
synonym: "Ca sigmoid colon" EXACT []
synonym: "malignant tumor of sigmoid colon" EXACT []
xref: ICD10CM:C18.7
xref: ICD9CM:153.3
is_a: DOID:219 ! colon cancer

[Term]
id: DOID:12196
name: superficial keratitis
xref: ICD10CM:H16.10
xref: ICD9CM:370.20
xref: RDO:9002831
is_a: DOID:4677 ! keratitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12197
name: punctate epithelial keratoconjunctivitis
synonym: "punctate keratitis" EXACT []
synonym: "Thygeson's superficial punctate keratitis" EXACT []
synonym: "Thygeson superficial punctate keratitis" EXACT []
xref: ICD10CM:H16.14
xref: ICD9CM:370.21
is_a: DOID:12196 ! superficial keratitis
is_a: DOID:9368 ! keratoconjunctivitis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:12205
name: dengue disease
alt_id: MIM:614371
def: "A viral infectious disease that results in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding. (DO)" [http://www.cdc.gov/dengue/fAQFacts/index.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue "DO"]
synonym: "Break Bone Fever" EXACT []
synonym: "Breakbone Fever" EXACT []
synonym: "Classical Dengue" EXACT []
synonym: "Classical Dengue Fever" EXACT []
synonym: "Classical Dengue Fevers" EXACT []
synonym: "Classical Dengues" EXACT []
synonym: "classic dengue" EXACT []
synonym: "dengue" EXACT []
synonym: "Dengue Fever" EXACT []
synonym: "dengue fever, protection against" RELATED []
synonym: "DENGUE FEVER, SUSCEPTIBILITY TO" NARROW []
synonym: "DENGUE HEMORRHAGIC FEVER, SUSCEPTIBILITY TO" NARROW []
synonym: "DENGUE SHOCK SYNDROME, SUSCEPTIBILITY TO" NARROW []
synonym: "dengue virus, susceptibility to" RELATED []
xref: EFO:0005547
xref: GARD:6254
xref: ICD10CM:A90
xref: ICD9CM:061
xref: MESH:D003715
xref: NCI:C34528
is_a: DOID:9004146 ! Flavivirus Infections
is_a: DOID:9007401 ! Viral Hemorrhagic Fevers
is_a: DOID:9007579 ! Arbovirus Infections

[Term]
id: DOID:12206
name: dengue hemorrhagic fever
def: "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC88892/pdf/cm000480.pdf "DO", http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001373.htm "DO", http://www.who.int/mediacentre/factsheets/fs117/en/ "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue%20hemorrhagic%20fever "DO"]
synonym: "dengue haemorrhagic fever" EXACT []
synonym: "DHF" EXACT []
synonym: "hemorrhagic dengue" EXACT []
synonym: "Hemorrhagic Dengues" EXACT []
synonym: "Philippine Hemorrhagic Fever" EXACT []
synonym: "Severe Dengue" EXACT []
synonym: "Severe Dengues" EXACT []
synonym: "Singapore hemorrhagic fever" EXACT []
synonym: "Thai hemorrhagic fever" EXACT []
xref: EFO:0004227
xref: ICD10CM:A91
xref: MESH:D019595
xref: NCI:C34683
is_a: DOID:12205 ! dengue disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12211
name: filarial elephantiasis
def: "A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. (DO)" [https://www.cdc.gov/parasites/lymphaticfilariasis/index.html "DO", https://www.who.int/news-room/fact-sheets/detail/lymphatic-filariasis "DO"]
synonym: "bancroftian elephantiases" EXACT []
synonym: "Bancroftian Elephantiasis" EXACT []
synonym: "Bancroftian filarial chyluria" EXACT []
synonym: "elephantiasis of eyelid" EXACT []
synonym: "Filarial Elephantiases" EXACT []
synonym: "Lymphatic Filariases" EXACT []
synonym: "lymphatic filariasis" EXACT []
xref: EFO:0007272
xref: MESH:D004605
xref: NCI:C128360
is_a: DOID:1080 ! filariasis
is_a: DOID:4976 ! elephantiasis
is_a: DOID:530 ! eyelid disease

[Term]
id: DOID:12215
name: oligohydramnios
def: "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. (DO)" [http://www.merriam-webster.com/medlineplus/oligohydramnios "DO"]
synonym: "ANHYDRAMNIOS" NARROW []
synonym: "antepartum oligohydramnios" EXACT []
synonym: "oligohydramnios - delivered" EXACT []
xref: EFO:0007401
xref: ICD10CM:O41.0
xref: ICD10CM:O41.00
xref: ICD9CM:658.0
xref: MESH:D016104
xref: NCI:C92839
is_a: DOID:780 ! placenta disease
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:12217
name: Lewy body dementia
alt_id: MIM:127750
def: "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies. (DO)" [http://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies "DO", http://www.mayoclinic.org/diseases-conditions/lewy-body-dementia/basics/definition/CON-20025038 "DO"]
synonym: "cortical Lewy body disease" EXACT []
synonym: "dementia with Lewy bodies" EXACT []
synonym: "Diffuse Lewy Body Disease" EXACT []
synonym: "DIFFUSE LEWY BODY DISEASE DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY" NARROW []
synonym: "DLB" EXACT []
synonym: "Lewy body disease" EXACT []
synonym: "Lewy Body Type Senile Dementia" EXACT []
synonym: "LEWY BODY VARIANT OF ALZHEIMER'S DISEASE" NARROW []
synonym: "LEWY BODY VARIANT OF ALZHEIMER DISEASE" NARROW []
synonym: "senile dementia of the Lewy body type" EXACT []
xref: EFO:0006792
xref: GARD:3243
xref: ICD10CM:G31.83
xref: ICD9CM:331.82
xref: MESH:D020961
xref: NCI:C84826
is_a: DOID:0080855 ! Parkinsonism
is_a: DOID:1307 ! dementia

[Term]
id: DOID:1222
name: cartilage disease
def: "A connective tissue disease that is located_in cartilage. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146013/ "DO"]
synonym: "cartilage diseases" EXACT []
synonym: "cartilage disorder" EXACT []
synonym: "chondropathy" EXACT []
xref: EFO:0005802
xref: ICD10CM:M94.9
xref: MESH:D002357
is_a: DOID:17 ! musculoskeletal system disease
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:12223
name: specific bursitis often of occupational origin
synonym: "specific bursitides often of occupational origin" EXACT []
xref: ICD9CM:727.2
is_a: DOID:2965 ! bursitis
is_a: DOID:9005463 ! Occupational Diseases
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:12225
name: Plica syndrome
xref: ICD10CM:M67.5
xref: ICD9CM:727.83
is_a: DOID:225 ! syndrome
is_a: DOID:381 ! arthropathy
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:12234
name: cascade stomach
synonym: "Hourglass stricture or stenosis of stomach" EXACT [ICD9CM_2006:537.6]
xref: ICD10CM:K31.2
xref: ICD9CM:537.6
xref: RDO:9003454
is_a: DOID:76 ! stomach disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:12236
name: primary biliary cholangitis
def: "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. (DO)" [http://en.wikipedia.org/wiki/Primary_biliary_cirrhosis "DO", http://www.merckmanuals.com/professional/hepatic_and_biliary_disorders/fibrosis_and_cirrhosis/primary_biliary_cirrhosis_pbc.html?qt=primary%20biliary%20cirrhosis&alt=sh "DO", https://www.mayoclinic.org/diseases-conditions/primary-biliary-cholangitis-pbc/symptoms-causes/syc-20376874 "DO"]
synonym: "biliary cirrhosis" EXACT []
synonym: "biliary liver cirrhoses" EXACT []
synonym: "biliary liver cirrhosis" EXACT []
synonym: "cholestatic cirrhosis" EXACT []
synonym: "chronic nonsuppurative destructive cholangitis" EXACT []
synonym: "obstructive liver cirrhosis" EXACT []
synonym: "PBC" EXACT []
synonym: "primary biliary cirrhosis" EXACT []
synonym: "secondary biliary cirrhosis" EXACT []
xref: EFO:0004267
xref: EFO:1001486
xref: EFO:1001487
xref: GARD:7459
xref: ICD10CM:K74.3
xref: ICD10CM:K74.5
xref: ICD9CM:571.6
xref: MESH:D008105
xref: MIM:PS109720
xref: NCI:C27167
xref: NCI:C51225
xref: ORDO:186
is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract
is_a: DOID:1852 ! intrahepatic cholestasis
is_a: DOID:5082 ! liver cirrhosis

[Term]
id: DOID:12237
name: bile reflux
def: "A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus. (DO)" [https://en.wikipedia.org/wiki/Biliary_reflux "DO", https://www.mayoclinic.org/diseases-conditions/bile-reflux/symptoms-causes/syc-20370115 "DO"]
xref: EFO:1000838
xref: MESH:D001655
is_a: DOID:4071 ! duodenogastric reflux
is_a: DOID:9741 ! biliary tract disease

[Term]
id: DOID:12239
name: anal margin squamous cell carcinoma
synonym: "perianal skin squamous cell carcinoma" EXACT []
synonym: "squamous cell carcinoma of anal margin" EXACT []
xref: ICD10CM:C44.520
xref: NCI:C6925
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:4284 ! anal margin carcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:12241
name: beta thalassemia
alt_id: MIM:613985
def: "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. (DO)" [http://en.wikipedia.org/wiki/Beta_thalassemia "DO", https://ghr.nlm.nih.gov/condition/beta-thalassemia "DO", https://pubmed.ncbi.nlm.nih.gov/31030806/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1426/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10395635 "DO"]
synonym: "beta0^ Thalassemia" NARROW []
synonym: "beta^0^ Thalassemia" NARROW []
synonym: "Beta-e-thalassemia" NARROW []
synonym: "Beta-Houston-thalassemia" NARROW []
synonym: "BETA-MALAY-THALASSEMIA" NARROW []
synonym: "BETA-THALASSEMIA DOMINANT" NARROW []
synonym: "BETA-THALASSEMIA HBB/LCRB" NARROW []
synonym: "Beta-thalassemia, lermontov type" EXACT []
synonym: "beta thalassemias" EXACT []
synonym: "beta Type Microcytemia" EXACT []
synonym: "beta Type Microcytemias" EXACT []
synonym: "beta Type Thalassemia" EXACT []
synonym: "beta Type Thalassemias" EXACT []
synonym: "BETA ZERO THALASSEMIA" NARROW []
synonym: "Erythroblastic Anemia" EXACT []
synonym: "erythroblastic anemias" EXACT []
synonym: "HEMOGLOBIN AGENOGI" RELATED []
synonym: "HEMOGLOBIN AUBAGNE" RELATED []
synonym: "Hemoglobin Brescia" RELATED []
synonym: "HEMOGLOBIN CARIBBEAN" RELATED []
synonym: "hemoglobin City of Hope" RELATED []
synonym: "HEMOGLOBIN DEER LODGE" RELATED []
synonym: "Hemoglobin Durham-N.C." RELATED []
synonym: "HEMOGLOBIN E (SASKATOON)" RELATED []
synonym: "Hemoglobin F Disease" EXACT []
synonym: "HEMOGLOBIN HK" RELATED []
synonym: "HEMOGLOBIN HOFU" RELATED []
synonym: "HEMOGLOBIN HRADEC KRALOVE" RELATED []
synonym: "Hemoglobin J (Cambridge)" RELATED []
synonym: "HEMOGLOBIN J (RAMBAM)" RELATED []
synonym: "Hemoglobin Mississippi" RELATED []
synonym: "Hemoglobin MS" RELATED []
synonym: "HEMOGLOBIN Q (INDIA)" RELATED []
synonym: "HEMOGLOBIN SAKI" RELATED []
synonym: "hemoglobin Siriraj" RELATED []
synonym: "Mediterranean anemia" EXACT []
synonym: "Mediterranean anemias" EXACT []
xref: GARD:871
xref: ICD10CM:D56.1
xref: ICD9CM:282.44
xref: MESH:D017086
xref: NCI:C34375
xref: ORDO:848
is_a: DOID:10241 ! thalassemia

[Term]
id: DOID:12246
name: histoplasmosis meningitis
synonym: "histoplasmosis with meningitis" EXACT []
xref: ICD9CM:115.91
is_a: DOID:11608 ! fungal meningitis
is_a: DOID:1731 ! histoplasmosis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:12253
name: testicular lymphoma
synonym: "lymphoma of the testis" EXACT []
synonym: "malignant lymphoma of testis" EXACT [SNOMEDCT_2005_07_31:277664004]
xref: NCI:C6810
is_a: DOID:0060058 ! lymphoma
is_a: DOID:2998 ! testicular cancer
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:12257
name: medulloadrenal hyperfunction
xref: ICD10CM:E27.5
xref: ICD9CM:255.6
xref: RDO:9004082
is_a: DOID:9553 ! adrenal gland disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:12259
name: hemophilia B
alt_id: MIM:306900
alt_id: OMIA:000438
def: "A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm "DO"]
synonym: "Christmas disease" EXACT []
synonym: "congenital factor IX deficiency" EXACT []
synonym: "congenital factor IX disorder" EXACT []
synonym: "F9 deficiencies" EXACT []
synonym: "F9 Deficiency" EXACT []
synonym: "factor IX deficiencies" EXACT []
synonym: "factor IX deficiency" EXACT []
synonym: "functional factor IX deficiency," EXACT []
synonym: "Haemophilia B" EXACT []
synonym: "HEMB" EXACT []
synonym: "hemophilia B(M)" EXACT []
synonym: "Hemophilia B Brandenburg" EXACT []
synonym: "HEMOPHILIA B, FACTOR IX DEFICIENCY" EXACT []
synonym: "HEMOPHILIA B LEYDEN" NARROW []
synonym: "hereditary factor IX deficiency disease" EXACT []
synonym: "plasma thromboplastin component deficiency" EXACT []
synonym: "plasma thromboplastin component deficiency hemophilia B(M)" NARROW []
xref: EFO:0009154
xref: GARD:8732
xref: ICD10CM:D67
xref: ICD9CM:286.1
xref: MESH:D002836
xref: NCI:C26721
xref: ORDO:98879
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:12265
name: chronic salpingo-oophoritis
synonym: "chronic salpingitis/oophoritis" EXACT []
synonym: "chronic salpingitis and oophoritis" EXACT []
xref: ICD10CM:N70.1
xref: ICD9CM:614.1
is_a: DOID:10972 ! salpingo-oophoritis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:1227
name: neutropenia
def: "A decrease in the number of NEUTROPHILS found in the blood." [MESH:D009503]
synonym: "neutropenias" EXACT []
xref: ICD10CM:D70
xref: ICD9CM:288.0
xref: MESH:D009503
xref: MONDO:0001475
xref: NCI:C80520
is_a: DOID:12987 ! agranulocytosis

[Term]
id: DOID:12270
name: coloboma
alt_id: MIM:120300
alt_id: MIM:216820
def: "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. (DO)" [http://en.wikipedia.org/wiki/Coloboma "DO", http://ghr.nlm.nih.gov/condition/coloboma "DO"]
synonym: "agenesis of macula" EXACT []
synonym: "CHORIORETINAL COLOBOMA" NARROW []
synonym: "COI" EXACT []
synonym: "coloboma of eye" EXACT []
synonym: "coloboma of iris, choroid, and retina" EXACT []
synonym: "colobomas" EXACT []
synonym: "congenital ocular coloboma" EXACT []
synonym: "ocular coloboma" EXACT []
synonym: "ocular coloboma, autosomal dominant" NARROW []
synonym: "ocular coloboma, autosomal recessive" NARROW []
synonym: "uveoretinal coloboma" EXACT []
xref: GARD:1433
xref: ICD10CM:Q13.0
xref: MESH:D003103
xref: NCI:C98877
xref: ORDO:194
xref: ORDO:98945
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:12271
name: aniridia
def: "An iris disease that is characterized by a complete or partial absence of the colored part of the eye. (DO)" [https://medlineplus.gov/genetics/condition/aniridia/ "DO"]
synonym: "absent iris" EXACT []
synonym: "AN" EXACT []
synonym: "aplasia of iris" EXACT []
synonym: "atypical aniridia" NARROW []
synonym: "CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY" NARROW []
synonym: "congenital aniridia" EXACT []
synonym: "irideremia" EXACT []
synonym: "isolated aniridia" EXACT []
xref: EFO:0004132
xref: GARD:5816
xref: ICD10CM:Q13.1
xref: ICD9CM:743.45
xref: MESH:D015783
xref: MIM:PS106210
xref: MONDO:0019172
xref: NCI:C84563
xref: ORDO:250923
is_a: DOID:240 ! iris disease
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:12273
name: anisometropia
def: "A condition of an inequality of refractive power of the two eyes." [MESH:D015858]
xref: ICD10CM:H52.31
xref: ICD9CM:367.31
xref: MESH:D015858
is_a: DOID:9835 ! refractive error

[Term]
id: DOID:12275
name: cutaneous diphtheria
def: "A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. (DO)" [http://en.wikipedia.org/wiki/Diphtheria "DO", http://www.merck.com/mmpe/sec14/ch172/ch172c.html "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A1746 "DO"]
xref: EFO:1000683
xref: ICD10CM:A36.3
xref: ICD9CM:032.85
xref: NCI:C34544
is_a: DOID:4223 ! pyoderma

[Term]
id: DOID:12276
name: malignant tumor of undescended testis
synonym: "malignant neoplasm of retained testis" EXACT []
synonym: "malignant neoplasm of undescended testis" EXACT []
synonym: "malignant tumor of retained testis" EXACT []
synonym: "malignant tumour of retained testis" EXACT []
synonym: "malignant tumour of undescended testis" EXACT []
xref: ICD10CM:C62.0
xref: ICD9CM:186.0
xref: RDO:9003719
is_a: DOID:2998 ! testicular cancer
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:12282
name: femoral vein thrombophlebitis
synonym: "phlebitis and thrombophlebitis of femoral vein" EXACT []
synonym: "thrombophlebitis of deep femoral vein" EXACT []
synonym: "thrombophlebitis of the femoral vein" EXACT []
xref: ICD10CM:I80.1
xref: ICD9CM:451.11
is_a: DOID:3875 ! thrombophlebitis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:12286
name: testicular leukemia
xref: NCI:C9277
is_a: DOID:1240 ! leukemia
is_a: DOID:2998 ! testicular cancer
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:12287
name: Crimean-Congo hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthonairovirus haemorrhagiae, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. (DO)" [http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/cchf.htm "DO", http://www.who.int/mediacentre/factsheets/fs208/en/ "DO"]
synonym: "CHF Congo virus" EXACT []
synonym: "Congo virus infection" EXACT []
synonym: "Congo Virus Infections" EXACT []
synonym: "Crimean hemorrhagic fever" EXACT []
synonym: "Crimean hemorrhagic fevers" EXACT []
xref: ICD10CM:A98.0
xref: ICD9CM:065.0
xref: MESH:D006479
xref: NCI:C34682
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9004137 ! Bunyaviridae Infections
is_a: DOID:9007401 ! Viral Hemorrhagic Fevers

[Term]
id: DOID:1229
name: paranoid schizophrenia
def: "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. (DO)" [http://en.wikipedia.org/wiki/Paranoid_schizophrenia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000936.htm "DO"]
synonym: "chronic paranoid schizophrenia" EXACT []
synonym: "paranoid schizophrenias" EXACT []
synonym: "paranoid type schizophrenia" EXACT []
synonym: "paranoid type schizophrenia subchronic state" EXACT []
synonym: "paraphrenia - late" EXACT []
synonym: "paraphrenic schizophrenia" EXACT []
xref: ICD10CM:F20.0
xref: ICD9CM:295.3
xref: ICD9CM:295.32
xref: MESH:D012563
xref: NCI:C35006
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:12294
name: atypical depressive disorder
def: "A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. (DO)" [http://en.wikipedia.org/wiki/Mood_disorder "DO"]
synonym: "Atypical depression" EXACT [SNOMEDCT_2005_07_31:192371004]
xref: ICD10CM:F32.89
xref: ICD9CM:296.82
xref: RDO:9003234
is_a: DOID:3324 ! mood disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:12297
name: Vogt-Koyanagi-Harada disease
def: "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. (DO)" [http://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome "DO"]
synonym: "Harada's disease" EXACT []
synonym: "uveomeningoencephalitic syndrome" EXACT []
synonym: "uveomeningoencephalitides" EXACT []
synonym: "Uveomeningoencephalitis" EXACT []
synonym: "VKH Syndrome" EXACT []
synonym: "VKH Syndrome (Vogt Koyanagi Harada)" EXACT []
synonym: "Vogt Koyanagi Harada syndrome" EXACT []
synonym: "Vogt-Koyanagi syndrome" EXACT []
xref: GARD:7862
xref: ICD10CM:H20.82
xref: ICD9CM:364.24
xref: MESH:D014607
xref: MONDO:0018092
xref: NCI:C85218
is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue
is_a: DOID:13141 ! uveitis
is_a: DOID:225 ! syndrome
is_a: DOID:438 ! autoimmune disease of the nervous system

[Term]
id: DOID:12298
name: intrahepatic gall duct cancer
synonym: "Ca intrahepatic bile ducts" EXACT []
synonym: "malignant neoplasm of intrahepatic bile ducts" EXACT []
synonym: "malignant neoplasm of intrahepatic biliary passages" EXACT []
synonym: "malignant neoplasm of intrahepatic gall duct" EXACT [SNOMEDCT_2005_07_31:187777008]
xref: ICD9CM:155.1
xref: RDO:9003143
is_a: DOID:3121 ! gallbladder cancer
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:12304
name: conjunctival pigmentation
xref: EFO:1000682
xref: ICD10CM:H11.13
xref: ICD9CM:372.55
xref: RDO:9004848
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:11653 ! conjunctival deposit
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:12305
name: Bloch-Sulzberger syndrome
alt_id: MESH:C531716
alt_id: MIM:308300
def: "A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages." [MESH:D007184]
synonym: "Bloch-Siemens-Sulzberger Syndrome" EXACT []
synonym: "Bloch-Siemens Syndrome" EXACT []
synonym: "incontinentia pigmenti" EXACT []
synonym: "INCONTINENTIA PIGMENTI, ATYPICAL" NARROW []
synonym: "incontinentia pigmenti, familial male-lethal type" EXACT []
synonym: "Incontinentia pigmenti syndrome" EXACT []
synonym: "incontinentia pigmenti, type II" EXACT []
synonym: "incontinentia pigmenti, type II, atypical" NARROW []
synonym: "IP" EXACT []
synonym: "IP2" EXACT []
xref: EFO:1000672
xref: ICD10CM:Q82.3
xref: MESH:D007184
xref: MONDO:0010631
xref: NCI:C84787
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:12306
name: vitiligo
alt_id: MIM:193200
alt_id: MIM:606579
alt_id: MIM:607836
alt_id: MIM:608391
alt_id: MIM:608392
alt_id: MIM:609400
def: "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. (DO)" [http://en.wikipedia.org/wiki/Vitiligo "DO"]
synonym: "AIS1" RELATED []
synonym: "AIS2" RELATED []
synonym: "AIS3" RELATED []
synonym: "AIS4" RELATED []
synonym: "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED" RELATED []
synonym: "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 4-RELATED" RELATED []
synonym: "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 7-RELATED" RELATED []
synonym: "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 8-RELATED" RELATED []
synonym: "Autoimmune Disease, Susceptibility To, 1" RELATED []
synonym: "Autoimmune Disease, Susceptibility To, 2" RELATED []
synonym: "Autoimmune Disease, Susceptibility To, 3" RELATED []
synonym: "Autoimmune Disease, Susceptibility To, 4" RELATED []
synonym: "SLEV1" EXACT []
synonym: "VAMAS1" RELATED []
synonym: "VAMAS2" RELATED []
synonym: "VAMAS3" RELATED []
synonym: "VAMAS4" RELATED []
synonym: "VAMAS5" RELATED []
synonym: "VAMAS6" RELATED []
synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1" RELATED []
synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2" RELATED []
synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 3" RELATED []
synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 4" RELATED []
synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 5" RELATED []
synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6" RELATED []
synonym: "vitiligo-related systemic lupus erythematosus" EXACT []
synonym: "VTLG" EXACT []
xref: EFO:0004208
xref: GARD:10751
xref: ICD10CM:L80
xref: ICD9CM:709.01
xref: MESH:D014820
xref: NCI:C26915
is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue
is_a: DOID:9005660 ! Hypopigmentation

[Term]
id: DOID:12307
name: anterior corneal pigmentation
synonym: "anterior corneal pigmentations" EXACT []
xref: ICD10CM:H18.01
xref: ICD9CM:371.11
xref: RDO:9003424
is_a: DOID:11547 ! corneal deposit
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:12308
name: Dubin-Johnson syndrome
alt_id: MIM:237500
def: "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. (DO)" [http://en.wikipedia.org/wiki/Dubin-Johnson_syndrome "DO"]
synonym: "ABCC2-RELATED CONDITION" EXACT []
synonym: "chronic idiopathic jaundice" EXACT []
synonym: "chronic idiopathic jaundices" EXACT []
synonym: "DJS" EXACT []
synonym: "HBLRDJ" EXACT []
synonym: "Hyperbilirubinemia 2" EXACT []
synonym: "HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE" EXACT []
synonym: "Hyperbilirubinemia II" EXACT []
xref: GARD:6289
xref: ICD10CM:E80.6
xref: MESH:D007566
xref: NCI:C34741
is_a: DOID:2383 ! neonatal jaundice
is_a: DOID:9005094 ! Hereditary Hyperbilirubinemia

[Term]
id: DOID:12309
name: urticaria pigmentosa
def: "The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." [MESH:D014582]
synonym: "Maculopapular Cutaneous Mastocytoses" EXACT []
synonym: "Maculopapular Cutaneous Mastocytosis" EXACT []
synonym: "UP/MPCM" EXACT []
xref: EFO:1001229
xref: MESH:D014582
xref: NCI:C3433
xref: ORDO:79457
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:3663 ! cutaneous mastocytosis

[Term]
id: DOID:12311
name: stromal corneal pigmentation
synonym: "stromal corneal pigmentations" EXACT []
xref: EFO:1000770
xref: ICD10CM:H18.06
xref: ICD9CM:371.12
xref: RDO:9003426
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:11547 ! corneal deposit
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:12318
name: granular corneal dystrophy
def: "An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea. (DO)" [https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm "DO"]
xref: ICD10CM:H18.53
xref: ICD9CM:371.53
xref: NCI:C34651
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:12323
name: cough variant asthma
def: "A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19272144 "DO"]
xref: ICD10CM:J45.991
xref: ICD9CM:493.82
is_a: DOID:0080809 ! chronic asthma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:12325
name: kyphoscoliotic heart disease
xref: ICD10CM:I27.1
xref: ICD9CM:416.1
is_a: DOID:12326 ! chronic pulmonary heart disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12326
name: chronic pulmonary heart disease
xref: ICD9CM:416.8
xref: RDO:9002765
is_a: DOID:8515 ! Cor pulmonale
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12328
name: marasmus
def: "A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation. (DO)" [https://www.jpedhc.org/article/S0891-5245(96)90071-1/pdf "DO"]
synonym: "Nutritional atrophy" EXACT [MTHICD9_2006:261]
synonym: "Nutritional marasmus" EXACT []
xref: EFO:1001033
xref: ICD10CM:E41
xref: ICD9CM:261
xref: RDO:9003147
is_a: DOID:11801 ! protein-energy malnutrition
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:1233
name: transvestism
def: "Disorder characterized by recurrent, intense sexually arousing fantasies, sexual urges, or behaviors involving cross-dressing in a heterosexual male. The fantasies, urges, or behaviors cause clinically significant distress or impairment in social, occupational or other areas of functioning. (from APA, DSM-IV, 1994)" [MESH:D014190]
synonym: "cross dresser" EXACT []
synonym: "dual-role transvestism" EXACT []
synonym: "fetishistic transvestism" EXACT []
synonym: "Transvestic Fetishism" EXACT []
synonym: "Transvestic Fetishisms" EXACT []
synonym: "Transvestisms" EXACT []
xref: ICD10CM:F64.1
xref: ICD9CM:302.3
xref: MESH:D014190
xref: NCI:C94359
is_a: DOID:0060044 ! paraphilia disorder
is_a: DOID:1235 ! fetishism

[Term]
id: DOID:12332
name: hematocele of tunica vaginalis testis
def: "Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the TESTIS leading to testicular hematocele or scrotal hematocele." [MESH:D006398]
synonym: "hematocele" EXACT []
synonym: "hematoceles" EXACT []
synonym: "male hematocele" EXACT []
synonym: "Scrotal Hematocele" EXACT []
synonym: "scrotal hematoceles" EXACT []
synonym: "testicular hematocele" EXACT []
synonym: "testicular hematoceles" EXACT []
xref: MESH:D006398
is_a: DOID:2519 ! testicular disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:12333
name: male genital organ stricture
synonym: "stricture of male genital organs" EXACT []
xref: ICD9CM:608.85
xref: RDO:9004648
is_a: DOID:48 ! male reproductive system disease
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:12335
name: male genital organ vascular disease
synonym: "vascular disorder of male genital organs" EXACT []
xref: ICD10CM:N50.1
xref: ICD9CM:608.83
xref: RDO:9004654
is_a: DOID:178 ! vascular disease
is_a: DOID:48 ! male reproductive system disease
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:12336
name: male infertility
def: "The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." [MESH:D007248]
synonym: "MALE INFERTILITY DUE TO GONADAL DYSGENESIS OR SPERM DISORDER" NARROW []
synonym: "male sterility" EXACT []
synonym: "male sub-fertility" EXACT []
synonym: "male subfertility" EXACT []
xref: EFO:0004248
xref: ICD10CM:N46
xref: ICD9CM:606
xref: MESH:D007248
is_a: DOID:48 ! male reproductive system disease
is_a: DOID:5223 ! infertility

[Term]
id: DOID:12337
name: varicocele
def: "A condition characterized by the dilated tortuous veins of the SPERMATIC CORD with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume." [MESH:D014646]
synonym: "scrotal varices" EXACT []
synonym: "Varicoceles" EXACT []
xref: ICD10CM:I86.1
xref: ICD9CM:456.4
xref: MESH:D014646
is_a: DOID:178 ! vascular disease
is_a: DOID:48 ! male reproductive system disease
is_a: DOID:9742 ! pelvic varices

[Term]
id: DOID:12339
name: retroperitoneal lymphoma
xref: MONDO:0001499
xref: NCI:C7353
is_a: DOID:0060058 ! lymphoma
is_a: DOID:5875 ! retroperitoneal cancer

[Term]
id: DOID:1234
name: gender incongruence
alt_id: DOID:10919
alt_id: MIM:600952
def: "A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001527.htm "DO"]
synonym: "gender identify disorder" EXACT []
synonym: "gender identity disorder" EXACT []
synonym: "transsexualism" EXACT []
synonym: "transsexuality" EXACT []
xref: EFO:0008587
xref: ICD10CM:F64.2
xref: ICD9CM:302.50
xref: ICD9CM:302.6
xref: MESH:D014189
is_a: DOID:0060043 ! sexual health disorder
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:12341
name: retroperitoneal sarcoma
def: "A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. (DO)" [http://en.wikipedia.org/wiki/Retroperitoneal_space "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665230/ "DO"]
xref: NCI:C4832
is_a: DOID:5875 ! retroperitoneal cancer

[Term]
id: DOID:12342
name: retroperitoneum carcinoma
synonym: "carcinoma of Retroperitoneum" EXACT []
synonym: "carcinoma of the retroperitoneum" EXACT []
xref: NCI:C7352
is_a: DOID:305 ! carcinoma
is_a: DOID:5875 ! retroperitoneal cancer
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:12347
name: osteogenesis imperfecta
alt_id: OMIA:000754
alt_id: OMIA:002112
def: "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (DO)" [http://en.wikipedia.org/wiki/Osteogenesis_imperfecta "DO", http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta "DO", http://orthoinfo.aaos.org/topic.cfm?topic=a00051 "DO", http://osteogenesisimperfecta.org/ "DO", http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/ "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm "DO"]
synonym: "brittle bone disease" EXACT []
synonym: "Fragilitas Ossium" EXACT []
synonym: "Lobstein's Disease" EXACT []
synonym: "Lobstein's syndrome" EXACT []
synonym: "Lobstein Disease" EXACT []
synonym: "Lobsteins Disease" EXACT []
synonym: "mild osteogenesis imperfecta" NARROW []
synonym: "osteogenesis imperfecta, recessive" NARROW []
synonym: "osteogenesis imperfecta with blue sclerae" EXACT []
synonym: "osteopenic nonfracture syndrome" NARROW []
synonym: "osteopsathyrosis" EXACT []
synonym: "Vrolik's disease" EXACT []
xref: GARD:1017
xref: ICD9CM:756.51
xref: MESH:D010013
xref: MIM:PS166200
xref: NCI:C26837
xref: NCI:C99003
xref: ORDO:666
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:854 ! collagen disease

[Term]
id: DOID:12349
name: primary eye hypotony
synonym: "primary hypotony of eye" EXACT []
xref: ICD10CM:H44.44
xref: ICD9CM:360.31
xref: RDO:9004884
is_a: DOID:790 ! ocular hypotension
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:1235
name: fetishism
def: "A condition in which inanimate objects are utilized as a preferred or exclusive method of stimulating erotic arousal." [MESH:D005329]
synonym: "Fetishism (Psychiatric)" EXACT []
synonym: "Fetishisms (Psychiatric)" EXACT []
xref: ICD10CM:F65.0
xref: ICD9CM:302.81
xref: MESH:D005329
xref: NCI:C94353
is_a: DOID:0060044 ! paraphilia disorder

[Term]
id: DOID:12351
name: alcoholic hepatitis
def: "INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." [MESH:D006519]
synonym: "acute alcoholic hepatitis" EXACT []
synonym: "acute alcoholic liver disease" EXACT []
synonym: "chronic alcoholic hepatitides" EXACT []
synonym: "chronic alcoholic hepatitis" EXACT []
xref: EFO:1001345
xref: ICD9CM:571.1
xref: MESH:D006519
xref: NCI:C34352
is_a: DOID:2237 ! hepatitis
is_a: DOID:9001285 ! Alcoholic Liver Diseases

[Term]
id: DOID:12355
name: prostatocystitis
xref: ICD10CM:N41.3
xref: ICD9CM:601.3
is_a: DOID:1679 ! cystitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:12357
name: viral labyrinthitis
def: "A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur. (DO)" [http://books.google.com/books?id=uCDyjzqAL3wC&pg=PA69&lpg#v=onepage&q=&f=false "DO"]
synonym: "epidemic vertigo" EXACT []
xref: ICD9CM:386.35
is_a: DOID:1468 ! labyrinthitis
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:12358
name: patulous eustachian tube
def: "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. (DO)" [http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false "DO"]
xref: GARD:10812
xref: ICD10CM:H69.0
xref: ICD9CM:381.7
xref: RDO:9003838
is_a: DOID:9739 ! eustachian tube disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:12359
name: endocrine exophthalmos
xref: ICD9CM:376.2
is_a: DOID:930 ! orbital disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:12360
name: lateral displacement of eye
synonym: "lateral displacement of globe" EXACT []
xref: ICD10CM:H05.21
xref: ICD9CM:376.36
is_a: DOID:930 ! orbital disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:12361
name: Graves' disease
alt_id: MIM:275000
alt_id: MIM:300351
alt_id: MIM:603372
alt_id: MIM:603388
def: "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. (DO)" [http://en.wikipedia.org/wiki/Graves_disease "DO"]
synonym: "autoimmune hyperthyroidism" EXACT []
synonym: "Basedow's disease" EXACT []
synonym: "Basedow disease" EXACT []
synonym: "Basedows disease" EXACT []
synonym: "exophthalmic goiter" EXACT []
synonym: "exophthalmic goiters" EXACT []
synonym: "Grave's disease" EXACT []
synonym: "Graves disease" EXACT []
synonym: "Graves disease, susceptibility to, 1" RELATED []
synonym: "Graves disease, susceptibility to, 2" RELATED []
synonym: "Graves disease, susceptibility to, X-linked 1" RELATED []
synonym: "Graves hyperthyroidism" EXACT []
synonym: "GRD" EXACT []
synonym: "GRD1" RELATED []
synonym: "GRD2" RELATED []
synonym: "GRDX1 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 2" RELATED []
synonym: "GRDX2" RELATED []
synonym: "Hyperthyroidism, Autoimmune Graves Disease, Susceptibility To, 1" RELATED []
xref: EFO:0004237
xref: ICD10CM:E05.0
xref: MESH:D006111
xref: NCI:C3071
is_a: DOID:0060005 ! autoimmune disease of endocrine system
is_a: DOID:12176 ! goiter
is_a: DOID:7998 ! hyperthyroidism
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:12362
name: thyrotoxic exophthalmos
xref: ICD9CM:376.21
xref: RDO:9003019
is_a: DOID:12359 ! endocrine exophthalmos
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:12363
name: intermittent proptosis
synonym: "intermittent exophthalmos" EXACT []
xref: ICD10CM:H05.25
xref: ICD9CM:376.34
is_a: DOID:930 ! orbital disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:12364
name: pulsating exophthalmos
xref: ICD10CM:H05.26
xref: ICD9CM:376.35
xref: RDO:9003029
is_a: DOID:930 ! orbital disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:12365
name: malaria
alt_id: MIM:609148
alt_id: MIM:611162
def: "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. (DO)" [http://en.wikipedia.org/wiki/Malaria "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malaria "DO"]
synonym: "DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE" RELATED []
synonym: "Glycophorin C, Gerbich Variant" RELATED []
synonym: "induced malaria" EXACT []
synonym: "MALARIA, CEREBRAL, RESISTANCE TO" RELATED []
synonym: "MALARIA, CEREBRAL, SUSCEPTIBILITY TO" RELATED []
synonym: "MALARIA, MILD, SUSCEPTIBILITY TO" RELATED []
synonym: "MALARIA, RESISTANCE TO" RELATED []
synonym: "MALARIA, SEVERE, RESISTANCE TO" RELATED []
synonym: "MALARIA, SEVERE, SUSCEPTIBILITY TO" RELATED []
synonym: "MALS" EXACT []
synonym: "marsh fever" EXACT []
synonym: "paludism" EXACT []
synonym: "Plasmodium Infection" EXACT []
synonym: "Plasmodium Infections" EXACT []
synonym: "plasmodium vivax, resistance to" RELATED []
synonym: "remittent fever" EXACT []
synonym: "susceptibility to malaria" RELATED []
xref: EFO:0001068
xref: EFO:0009157
xref: GARD:6961
xref: ICD10CM:B54
xref: ICD9CM:084
xref: MESH:D008288
xref: NCI:C34797
xref: ORDO:673
is_a: DOID:2789 ! parasitic protozoa infectious disease
is_a: DOID:9000518 ! Parasitemia

[Term]
id: DOID:12369
name: prolapse of urethra
def: "A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening. (DO)" [https://en.wikipedia.org/wiki/Urethrocele "DO"]
synonym: "urethrocele" EXACT []
xref: ICD10CM:N81.0
xref: ICD9CM:618.03
xref: NCI:C123256
is_a: DOID:1284 ! prolapse of female genital organ
is_a: DOID:732 ! urethral disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:1237
name: corneal degeneration
xref: ICD10CM:H18.4
xref: ICD9CM:371.4
is_a: DOID:10124 ! corneal disease
is_a: DOID:9799 ! eye degenerative disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:12375
name: bronchopneumonia
def: "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchopneumonia "DO"]
synonym: "Bronchial Pneumonia" EXACT []
synonym: "Bronchial Pneumonias" EXACT []
synonym: "Bronchopneumonias" EXACT []
synonym: "chest infection - bronchopneumonia" EXACT []
synonym: "lobular pneumonia" EXACT []
xref: EFO:0007184
xref: ICD10CM:J18.0
xref: ICD9CM:485
xref: MESH:D001996
xref: NCI:C26710
is_a: DOID:1176 ! bronchial disease
is_a: DOID:552 ! pneumonia

[Term]
id: DOID:12376
name: juvenile spinal muscular atrophy
def: "A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO"]
synonym: "Kugelberg Welander disease" EXACT []
synonym: "Kugelberg Welander syndrome" EXACT []
synonym: "KWS" EXACT []
synonym: "SMA3" EXACT []
synonym: "SMA III" EXACT []
synonym: "spinal muscular atrophy, familial" EXACT []
synonym: "spinal muscular atrophy, mild childhood and adolescent form" EXACT []
synonym: "spinal muscular atrophy type 3" EXACT []
synonym: "spinal muscular atrophy type III" EXACT []
xref: ICD9CM:335.11
xref: MIM:253400
xref: NCI:C118847
is_a: DOID:0060160 ! childhood spinal muscular atrophy
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:12377
name: spinal muscular atrophy
def: "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. (DO)" [http://en.wikipedia.org/wiki/Spinal_muscular_atrophy "DO", https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO", https://www.genome.gov/Genetic-Disorders/Spinal-Muscular-Atrophy "DO", https://www.ncbi.nlm.nih.gov/pubmed/26022173 "DO"]
synonym: "adult onset spinal muscular atrophy" EXACT []
synonym: "bulbospinal neuronopathies" EXACT []
synonym: "bulbospinal neuronopathy" EXACT []
synonym: "distal spinal muscular atrophy" EXACT []
synonym: "hereditary motor neuronopathies" EXACT []
synonym: "hereditary motor neuronopathy" EXACT []
synonym: "myelopathic muscular atrophy" EXACT []
synonym: "oculopharyngeal spinal muscular atrophy" EXACT []
synonym: "progressive myelopathic muscular atrophy" EXACT []
synonym: "progressive proximal myelopathic muscular atrophy" EXACT []
synonym: "proximal spinal muscular atrophy" NARROW []
synonym: "spinal amyotrophies" EXACT []
synonym: "spinal amyotrophy" EXACT []
synonym: "spinal muscular atrophy, dominant" NARROW []
xref: EFO:0003823
xref: EFO:0008525
xref: GARD:7674
xref: ICD10CM:G12.9
xref: ICD9CM:335.1
xref: MESH:D009134
xref: NCI:C85075
is_a: DOID:231 ! motor neuron disease
is_a: DOID:319 ! spinal cord disease

[Term]
id: DOID:12382
name: complex partial epilepsy
def: "A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" [MESH:D017029]
synonym: "complex partial epileptic seizure" EXACT []
synonym: "complex partial seizure disorder" EXACT []
synonym: "cryptogenic partial complex epilepsy" EXACT []
synonym: "Disorder, Complex Partial Seizures" EXACT []
synonym: "Psychic Equivalent Epilepsy" EXACT []
synonym: "psychomotor epilepsy" EXACT []
synonym: "symptomatic partial complex epilepsy" EXACT []
xref: EFO:1000877
xref: MESH:D017029
is_a: DOID:2234 ! focal epilepsy

[Term]
id: DOID:12384
name: dysentery
def: "An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO", http://en.wikipedia.org/wiki/Dysentery "DO", http://www.who.int/topics/dysentery/en/ "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dysentery "DO"]
synonym: "Infectious diarrhea" EXACT []
synonym: "infectious diarrheal disease" EXACT []
synonym: "infectious diarrheal diseases" EXACT []
xref: EFO:1001869
xref: ICD9CM:009.2
xref: MESH:D004403
is_a: DOID:100 ! intestinal infectious disease
is_a: DOID:2326 ! gastroenteritis

[Term]
id: DOID:12385
name: shigellosis
def: "A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. (DO)" [http://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh "DO"]
synonym: "Bacillary Dysentery" EXACT []
synonym: "Dysentery, Shigella dysenteriae type 1" EXACT []
synonym: "Shiga bacillus Dysentery" EXACT []
synonym: "Shigella boydii dysenteries" EXACT []
synonym: "Shigella boydii Dysentery" EXACT []
synonym: "Shigella boydii infectious disease" EXACT []
synonym: "Shigella dysenteriae Dysenteries" EXACT []
synonym: "Shigella dysenteriae Dysentery" EXACT []
synonym: "Shigella Dysenteries" EXACT []
synonym: "Shigella Dysentery" EXACT []
synonym: "Shigella flexneri Dysenteries" EXACT []
synonym: "Shigella flexneri Dysentery" EXACT []
synonym: "Shigella flexneri infectious disease" EXACT []
synonym: "Shigella gastroenteritis" EXACT []
synonym: "Shigella sonnei Dysenteries" EXACT []
synonym: "Shigella sonnei dysentery" EXACT []
synonym: "Shigella sonnei infectious disease" EXACT []
xref: EFO:0005585
xref: GARD:4818
xref: ICD10CM:A03
xref: ICD10CM:A03.0
xref: ICD10CM:A03.1
xref: ICD10CM:A03.2
xref: ICD9CM:004
xref: ICD9CM:004.0
xref: ICD9CM:004.1
xref: ICD9CM:004.2
xref: MESH:D004405
xref: NCI:C157978
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:12384 ! dysentery
is_a: DOID:5353 ! colonic disease
is_a: DOID:9003491 ! Enterobacteriaceae Infections

[Term]
id: DOID:12386
name: balantidiasis
def: "A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14760781 "DO"]
synonym: "Balantidiases" EXACT []
synonym: "Balantidiosis" EXACT []
synonym: "Balantidium coli infection" EXACT []
synonym: "B coli infection" EXACT []
synonym: "human balantidiasis" NARROW []
synonym: "large-intestinal infection with Balantidium coli" EXACT []
xref: EFO:0007163
xref: GARD:809
xref: ICD10CM:A07.0
xref: ICD9CM:007.0
xref: MESH:D001447
xref: NCI:C84583
is_a: DOID:9002892 ! Parasitic Intestinal Diseases
is_a: DOID:9006772 ! Ciliophora Infections

[Term]
id: DOID:12387
name: nephrogenic diabetes insipidus
def: "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). (DO)" [http://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus "DO", http://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus "DO", https://medlineplus.gov/ency/article/000511.htm "DO"]
synonym: "acquired nephrogenic diabetes insipidus" EXACT []
synonym: "ADH-Resistant Diabetes Insipidus" EXACT []
synonym: "Congenital Nephrogenic Diabetes Insipidus" EXACT []
synonym: "DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT" NARROW []
synonym: "DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE" NARROW []
synonym: "Diabetes Insipidus Renalis" EXACT []
synonym: "NDI" EXACT []
synonym: "vasopressin-resistant diabetes insipidus" EXACT []
xref: GARD:7178
xref: ICD10CM:N25.1
xref: ICD9CM:588.1
xref: MESH:D018500
xref: NCI:C84919
xref: ORDO:223
is_a: DOID:557 ! kidney disease
is_a: DOID:9409 ! diabetes insipidus

[Term]
id: DOID:12388
name: neurohypophyseal diabetes insipidus
alt_id: MIM:125700
def: "A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15070970/ "DO"]
synonym: "CDI" EXACT []
synonym: "Diabetes Insipidus Cranial Type" EXACT []
synonym: "DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE" NARROW []
synonym: "Diabetes Insipidus, Neurohypophyseal Type" EXACT []
synonym: "Diabetes Insipidus Primary Central" EXACT []
synonym: "Diabetes Insipidus Secondary To Vasopressin Deficiency" EXACT []
synonym: "Neurogenic Diabetes Insipidus" EXACT []
synonym: "Pituitary Diabetes Insipidus" EXACT []
synonym: "Vasopressin Defective Diabetes Insipidus" EXACT []
synonym: "vasopressin deficiency" EXACT []
xref: MESH:D020790
xref: NCI:C84933
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081055 ! central diabetes insipidus
is_a: DOID:26 ! pancreas disease

[Term]
id: DOID:12395
name: spastic entropion
xref: ICD9CM:374.03
is_a: DOID:12397 ! entropion

[Term]
id: DOID:12397
name: entropion
def: "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)" []
synonym: "Entropions" EXACT []
xref: ICD9CM:374.00
xref: MESH:D004774
is_a: DOID:530 ! eyelid disease

[Term]
id: DOID:12399
name: pathological gambling
alt_id: MIM:606349
def: "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004711/ "DO"]
synonym: "compulsive gambling" EXACT []
synonym: "gambling" EXACT []
synonym: "pathologic gambling" EXACT []
xref: EFO:0004699
xref: EFO:1001926
xref: ICD10CM:F63.0
xref: ICD9CM:312.31
xref: MESH:D005715
xref: NCI:C94335
is_a: DOID:10937 ! impulse control disorder

[Term]
id: DOID:1240
name: leukemia
def: "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. (DO)" [http://en.wikipedia.org/wiki/Leukemia "DO", http://www.cancer.gov/dictionary?CdrID=45343 "DO"]
synonym: "leucocythaemia" EXACT []
synonym: "leucocythaemias" EXACT []
synonym: "Leucocythemia" EXACT []
synonym: "leucocythemias" EXACT []
synonym: "Leukemia, post-chemotherapy, susceptibility to" RELATED []
synonym: "leukemias" EXACT []
xref: EFO:0000565
xref: ICD10CM:C95.90
xref: ICD9CM:208
xref: ICDO:9800/3
xref: MESH:D007938
xref: NCI:C128120
xref: NCI:C141365
xref: NCI:C21604
xref: NCI:C3161
xref: NCI:C60428
is_a: DOID:2531 ! hematologic cancer
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:12400
name: kleptomania
def: "An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. (DO)" [https://en.wikipedia.org/wiki/Kleptomania "DO"]
synonym: "pathological stealing" EXACT []
xref: ICD10CM:F63.2
xref: ICD9CM:312.32
xref: NCI:C94333
is_a: DOID:10937 ! impulse control disorder
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:12401
name: intermittent explosive disorder
def: "An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. (DO)" [https://en.wikipedia.org/wiki/Intermittent_explosive_disorder "DO"]
synonym: "explosive personality disorder" EXACT []
xref: ICD10CM:F63.81
xref: ICD9CM:301.3
xref: ICD9CM:312.34
xref: NCI:C94332
is_a: DOID:10937 ! impulse control disorder
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:12402
name: pyromania
def: "An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. (DO)" [https://en.wikipedia.org/wiki/Pyromania "DO"]
synonym: "arson" EXACT []
synonym: "arsons" EXACT []
synonym: "firesetting behavior" EXACT []
synonym: "firesetting behaviors" EXACT []
synonym: "pathological firesetting" EXACT []
synonym: "pyromanias" EXACT []
xref: ICD10CM:F63.1
xref: ICD9CM:312.33
xref: MESH:D005391
xref: NCI:C94334
is_a: DOID:10937 ! impulse control disorder

[Term]
id: DOID:12403
name: tinea pedis
def: "A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=athlete%27s%20foot "DO"]
synonym: "athlete's foot" EXACT []
synonym: "athlete foot" EXACT []
synonym: "athletes foot" EXACT []
synonym: "dermatophytosis of foot" EXACT []
synonym: "ringworm of foot" EXACT []
xref: EFO:0007512
xref: ICD10CM:B35.3
xref: ICD9CM:110.4
xref: MESH:D014008
is_a: DOID:8913 ! dermatophytosis
is_a: DOID:9003842 ! Foot Dermatoses
is_a: DOID:9006202 ! Pruritus

[Term]
id: DOID:1241
name: luxation of globe
synonym: "Luxation of eye" EXACT [SNOMEDCT_2005_07_31:20842008]
xref: ICD10CM:H44.82
xref: ICD9CM:360.81
xref: RDO:9003052
is_a: DOID:1242 ! globe disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:1242
name: globe disease
def: "An eye disease that involves the globe of the eye. (DO)" [https://en.wikipedia.org/wiki/Globe_(human_eye) "DO"]
xref: EFO:0003966
xref: ICD10CM:H44.39
xref: ICD9CM:360.29
is_a: DOID:5614 ! eye disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:12424
name: thyrocalcitonin secretion disease
synonym: "disorder of thyrocalcitonin secretion" EXACT []
xref: ICD9CM:246.0
xref: RDO:9004420
is_a: DOID:50 ! thyroid gland disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:1243
name: labia minora cancer
def: "A vulva cancer that is located_in the labium minora. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13103721 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24113413 "DO"]
synonym: "malignant neoplasm of labia minora" EXACT []
synonym: "malignant neoplasm of labium minus" EXACT []
synonym: "malignant tumor of labia minora" EXACT []
xref: ICD10CM:C51.1
xref: ICD9CM:184.2
xref: NCI:C7637
is_a: DOID:1245 ! vulva cancer
is_a: DOID:4159 ! skin cancer
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:12445
name: conjugate gaze palsy
synonym: "palsy of conjugate gaze" EXACT []
xref: ICD9CM:378.81
is_a: DOID:540 ! strabismus
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:12449
name: aplastic anemia
def: "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. (DO)" [http://en.wikipedia.org/wiki/Aplastic_anemia "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/ "DO"]
synonym: "acquired aplastic anemia" NARROW []
synonym: "aplastic anemias" EXACT []
synonym: "APLASTIC ANEMIA, SUSCEPTIBILITY TO" RELATED []
synonym: "hypoplastic anemia" EXACT []
synonym: "hypoplastic anemias" EXACT []
synonym: "INHERITED APLASTIC ANEMIA" NARROW []
synonym: "severe aplastic anemia" NARROW []
xref: EFO:0006926
xref: EFO:0006927
xref: GARD:5836
xref: ICD10CM:D61.9
xref: ICD9CM:284.9
xref: MESH:D000741
xref: MIM:609135
xref: MONDO:0015909
xref: NCI:C2870
xref: ORDO:182040
is_a: DOID:720 ! normocytic anemia
is_a: DOID:9007222 ! Bone Marrow Failure Disorders

[Term]
id: DOID:1245
name: vulva cancer
def: "A female reproductive organ cancer that is located_in the vulva. (DO)" [https://en.wikipedia.org/wiki/Vulvar_cancer "DO"]
synonym: "cancer of the vulva" EXACT []
synonym: "cancer of vulva" EXACT []
synonym: "Ca vulva" EXACT []
synonym: "malignant neoplasm of vulva" EXACT []
synonym: "malignant tumor of vulva" EXACT []
synonym: "malignant vulvar tumor" EXACT []
synonym: "vulva cancers" EXACT []
synonym: "vulval cancer" EXACT []
synonym: "vulvar cancer" EXACT []
synonym: "vulvar cancers" EXACT []
xref: GARD:9349
xref: ICD10CM:C51
xref: ICD9CM:184.4
xref: NCI:C7502
is_a: DOID:120 ! female reproductive organ cancer
is_a: DOID:9005804 ! Vulvar Neoplasms
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:12450
name: pancytopenia
def: "An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets. (DO)" [https://en.wikipedia.org/wiki/Pancytopenia "DO"]
synonym: "pancytopenias" EXACT []
xref: ICD10CM:D61.81
xref: ICD9CM:284.1
xref: MESH:D010198
xref: NCI:C34889
xref: NCI:C80693
is_a: DOID:2355 ! anemia
is_a: DOID:74 ! hematopoietic system disease

[Term]
id: DOID:12451
name: sulfhemoglobinemia
def: "A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" [MESH:D013436]
synonym: "sulfemoglobinemia" EXACT []
synonym: "sulfhemoglobinemias" EXACT []
xref: EFO:1001200
xref: MESH:D013436
is_a: DOID:620 ! blood protein disease
is_a: DOID:74 ! hematopoietic system disease

[Term]
id: DOID:12465
name: secondary hyperparathyroidism of renal origin
synonym: "hyperparathyroidism due to renal insufficiency" EXACT [SNOMEDCT_2005_07_31:19034001]
xref: ICD10CM:N25.81
xref: ICD9CM:588.81
is_a: DOID:12466 ! secondary hyperparathyroidism
is_a: DOID:557 ! kidney disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:12466
name: secondary hyperparathyroidism
def: "Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." [MESH:D006962]
synonym: "secondary hyperparathyroidisms" EXACT []
xref: EFO:1001173
xref: MESH:D006962
xref: NCI:C113335
is_a: DOID:13543 ! hyperparathyroidism

[Term]
id: DOID:1247
name: blood coagulation disease
alt_id: DOID:2212
def: "A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. (DO)" [https://www.cedars-sinai.edu/Patients/Health-Conditions/Coagulation-System-Disorders.aspx "DO"]
synonym: "ABNORMALITY OF COAGULATION" EXACT []
synonym: "blood coagulation disorder" EXACT []
synonym: "blood coagulation disorders" EXACT []
synonym: "FIBRINOGEN MILANO XII, DIGENIC" RELATED []
synonym: "postpartum coagulation defect" EXACT []
synonym: "postpartum coagulation defect with delivery" EXACT []
synonym: "protein Z deficiency" NARROW []
xref: EFO:0009314
xref: ICD10CM:D68.9
xref: ICD9CM:286
xref: MESH:D001778
xref: NCI:C2902
is_a: DOID:74 ! hematopoietic system disease

[Term]
id: DOID:12474
name: capillariasis
def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. (DO)" [https://en.wikipedia.org/wiki/Capillariasis "DO"]
synonym: "capillaria infection" EXACT []
xref: ICD10CM:B81.1
xref: ICD9CM:127.5
is_a: DOID:409 ! liver disease
is_a: DOID:5295 ! intestinal disease
is_a: DOID:850 ! lung disease
is_a: DOID:9002992 ! Nematode Infections
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:12475
name: pes anserinus tendinitis or bursitis
xref: ICD9CM:726.61
is_a: DOID:204 ! enthesopathy
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:1248
name: ocular hyperemia
synonym: "hyperemia eye" EXACT []
synonym: "hyperemia of conjunctiva" EXACT []
is_a: DOID:4251 ! conjunctival disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:12491
name: Vagus nerve disease
def: "Diseases of the tenth cranial nerve, including brain stem lesions involving its nuclei (solitary, ambiguus, and dorsal motor), nerve fascicles, and intracranial and extracranial course. Clinical manifestations may include dysphagia, vocal cord weakness, and alterations of parasympathetic tone in the thorax and abdomen." [MESH:D020421]
synonym: "Cranial Nerve X Diseases" EXACT []
synonym: "disorder of pneumogastric [10th] nerve" EXACT [ICD9CM_2006:352.3]
synonym: "disorder of vagal nerve" EXACT [MTHICD9_2006:352.3]
synonym: "disorder of vagus nerve" EXACT [SNOMEDCT_2005_07_31:73765005]
synonym: "Pneumogastric Nerve Disorder" EXACT []
synonym: "Pneumogastric Nerve Disorders" EXACT []
synonym: "Tenth Cranial Nerve Diseases" EXACT []
synonym: "Vagus nerve diseases" EXACT []
synonym: "Vagus Nerve Disorder" EXACT []
synonym: "Vagus Nerve Disorders" EXACT []
synonym: "Vagus Nerve Motor Disorder" EXACT []
synonym: "Vagus Nerve Sensory Disorder" EXACT []
synonym: "Vagus Neuropathies" EXACT []
synonym: "Vagus Neuropathy" EXACT []
xref: ICD10CM:G52.2
xref: ICD9CM:352.3
xref: MESH:D020421
xref: NCI:C27591
xref: RDO:0006815
is_a: DOID:3418 ! glossopharyngeal nerve disease
is_a: DOID:5656 ! cranial nerve disease

[Term]
id: DOID:125
name: vagina leiomyoma
def: "A vaginal benign neoplasm that is a benign tumor of smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25672089 "DO"]
synonym: "leiomyoma of vagina" EXACT []
xref: NCI:C6373
is_a: DOID:0060114 ! vaginal benign neoplasm
is_a: DOID:127 ! leiomyoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:12506
name: Bell's palsy
def: "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). (DO)" [http://en.wikipedia.org/wiki/Bell%27s_palsy "DO"]
synonym: "acute idiopathic facial neuropathy" EXACT []
synonym: "Acute Inflammatory Facial Neuropathy" EXACT []
synonym: "Bell's (facial) palsy" EXACT []
synonym: "Bell's Palsies" EXACT []
synonym: "Bell palsies" EXACT []
synonym: "Bell palsy" EXACT []
synonym: "Bells Palsy" EXACT []
synonym: "Herpetic Facial Paralyses" EXACT []
synonym: "Herpetic Facial Paralysis" EXACT []
synonym: "idiopathic facial paralyses" EXACT []
synonym: "idiopathic facial paralysis" EXACT []
xref: EFO:0007167
xref: GARD:5906
xref: ICD9CM:351.0
xref: MESH:D020330
is_a: DOID:13934 ! facial paralysis
is_a: DOID:1756 ! facial nerve disease
is_a: DOID:225 ! syndrome
is_a: DOID:9002834 ! Herpesviridae Infections

[Term]
id: DOID:1251
name: tuberculous epididymitis
def: "An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. (DO)" [http://www.nature.com/aja/journal/v7/n3/abs/aja200560a.html "DO"]
xref: ICD9CM:016.4
is_a: DOID:2149 ! urogenital tuberculosis
is_a: DOID:9402 ! epididymitis

[Term]
id: DOID:12510
name: retinal ischemia
def: "An ischemia that is characterized by restriction in blood supply to the retina. (DO)" [http://www.med.umich.edu/1libr/Ophthalmology/Retina/RetinalIschemia.pdf "DO", https://en.wikipedia.org/wiki/Ocular_ischemic_syndrome "DO"]
xref: ICD10CM:H35.82
xref: ICD9CM:362.84
xref: RDO:9000523
is_a: DOID:2462 ! retinal vascular disease
is_a: DOID:326 ! ischemia

[Term]
id: DOID:12514
name: retinal perforation
alt_id: RDO:0006479
def: "Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." []
synonym: "Retinal Break" EXACT []
synonym: "retinal breaks" EXACT []
synonym: "Retinal Dialyse" EXACT []
synonym: "Retinal Dialyses" EXACT []
synonym: "Retinal dialysis" EXACT [SNOMEDCT_2005_07_31:232003005]
synonym: "Retinal Hole" EXACT []
synonym: "Retinal Holes" EXACT []
synonym: "Retinal Perforations" EXACT []
synonym: "Retinal Tear" EXACT []
synonym: "retinal tears" EXACT []
xref: EFO:0010698
xref: MESH:D012167
xref: NCI:C50732
is_a: DOID:5327 ! retinal detachment
is_a: DOID:5679 ! retinal disease

[Term]
id: DOID:1252
name: trichuriasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. (DO)" [http://en.wikipedia.org/wiki/Trichuriasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm "DO"]
synonym: "infection by Trichuris trichura" EXACT []
synonym: "trichocephaliases" EXACT []
synonym: "Trichocephaliasis" EXACT []
synonym: "Trichuriases" EXACT []
synonym: "Trichuriasis infection" EXACT []
synonym: "trichuris trichiura infection" EXACT []
synonym: "whipworm disease" EXACT []
xref: EFO:0007524
xref: GARD:10720
xref: MESH:D014257
xref: NCI:C128399
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9004683 ! Enoplida Infections

[Term]
id: DOID:12522
name: bagassosis
def: "An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. (DO)" [http://www.merriam-webster.com/medical/bagassosis "DO"]
synonym: "sugar cane worker pneumonitis" EXACT []
xref: ICD10CM:J67.1
xref: ICD9CM:495.1
xref: NCI:C34409
is_a: DOID:10316 ! pneumoconiosis
is_a: DOID:841 ! extrinsic allergic alveolitis
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:12524
name: plantar nerve lesion
synonym: "lesion of plantar nerve" EXACT []
xref: ICD10CM:G57.6
xref: ICD9CM:355.6
is_a: DOID:1187 ! tibial neuropathy
is_a: DOID:9473 ! mononeuritis of lower limb
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:12526
name: tarsal tunnel syndrome
def: "Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)" [MESH:D013641]
synonym: "Posterior Tibial Nerve Neuralgia" EXACT []
synonym: "Tarsal Tunnel Entrapment Neuropathy" EXACT []
synonym: "Tarsal Tunnel Syndromes" EXACT []
synonym: "Tarsal Tunnel Tibial Neuropathy" EXACT []
xref: EFO:1001208
xref: GARD:7733
xref: ICD10CM:G57.5
xref: ICD9CM:355.5
xref: MESH:D013641
xref: NCI:C85183
xref: RDO:0006673
is_a: DOID:1187 ! tibial neuropathy
is_a: DOID:573 ! nerve compression syndrome

[Term]
id: DOID:12527
name: common peroneal nerve lesion
xref: ICD10CM:G57.3
xref: ICD9CM:355.3
is_a: DOID:6925 ! peroneal nerve paralysis
is_a: DOID:9473 ! mononeuritis of lower limb
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:12528
name: lesion of sciatic nerve
synonym: "sciatic nerve lesion" EXACT []
synonym: "sciatic nerve lesions" EXACT []
xref: ICD10CM:G57.0
xref: ICD9CM:355.0
is_a: DOID:9473 ! mononeuritis of lower limb
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:12529
name: tibial nerve palsy
is_a: DOID:1187 ! tibial neuropathy
is_a: DOID:9473 ! mononeuritis of lower limb
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:12531
name: von Willebrand's disease
def: "A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. (DO)" [http://en.wikipedia.org/wiki/Von_Willebrand_disease "DO", http://ghr.nlm.nih.gov/condition/von-willebrand-disease "DO"]
synonym: "Angiohemophilia" EXACT []
synonym: "angiohemophilias" EXACT []
synonym: "HEREDITARY VON WILLEBRAND DISEASE" EXACT []
synonym: "Vascular Hemophilia" EXACT []
synonym: "Vascular Hemophilias" EXACT []
synonym: "Vascular Pseudohemophilia" EXACT []
synonym: "Vascular Pseudohemophilias" EXACT []
synonym: "von Willebrand's Diseases" EXACT []
synonym: "von Willebrand's factor deficiency" EXACT []
synonym: "von Willebrand's-Jurgens' disease" EXACT []
synonym: "von Willebrand Disease" EXACT []
synonym: "von Willebrand Disease, Recessive Form" EXACT []
synonym: "von Willebrand diseases" EXACT []
synonym: "Von Willebrand Disorder" EXACT []
synonym: "von Willebrand-Jrgens disease" EXACT []
xref: EFO:0003910
xref: GARD:7867
xref: ICD10CM:D68.0
xref: ICD9CM:286.4
xref: MESH:D014842
xref: MONDO:0019565
xref: NCI:C68677
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:12537
name: hypermobility of coccyx
synonym: "coccygeal hypermobility syndrome" EXACT []
synonym: "hypermobility of the coccyx" EXACT []
xref: ICD9CM:724.71
xref: RDO:9003750
is_a: DOID:1123 ! spondyloarthropathy
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:1254
name: trichostrongylosis
def: "A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. (DO)" [http://www.dpd.cdc.gov/DPDx/HTML/Trichostrongylosis.htm "DO"]
synonym: "infection by Trichostrongylus" EXACT []
synonym: "infection by Trichostrongylus species" EXACT []
synonym: "trichostrongyliasis" EXACT []
synonym: "Trichostrongyloses" EXACT []
xref: EFO:0007523
xref: ICD10CM:B81.2
xref: ICD9CM:127.6
xref: MESH:D014253
is_a: DOID:1255 ! trichostrongyloidiasis

[Term]
id: DOID:12546
name: atrophic nonflaccid tympanic membrane
xref: ICD10CM:H73.82
xref: ICD9CM:384.82
is_a: DOID:5782 ! tympanic membrane disease

[Term]
id: DOID:12549
name: hepatitis A
def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. (DO)" [http://www.cdc.gov/hepatitis/HAV/index.htm "DO", http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf "DO"]
synonym: "Infectious Hepatitides" EXACT []
synonym: "Infectious Hepatitis" EXACT []
synonym: "Viral hepatitis A" RELATED []
synonym: "viral hepatitis, type A" EXACT []
xref: EFO:0007305
xref: MESH:D006506
xref: NCI:C3096
is_a: DOID:9006549 ! Enterovirus Infections
is_a: DOID:9007329 ! Human Viral Hepatitis

[Term]
id: DOID:1255
name: trichostrongyloidiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. (DO)" [http://en.wikipedia.org/wiki/Strongylida "DO"]
synonym: "trichostrongyloidiases" EXACT []
xref: EFO:0007522
xref: MESH:D014252
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:9003369 ! Strongylida Infections

[Term]
id: DOID:12550
name: hepatic coma
synonym: "hepatic comas" EXACT []
synonym: "Hepatocerebral intoxication" EXACT [MTHICD9_2006:572.2]
xref: ICD10CM:K72.91
xref: RDO:9004030
is_a: DOID:13413 ! hepatic encephalopathy
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:12554
name: hemolytic-uremic syndrome
def: "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. (DO)" [https://en.wikipedia.org/wiki/Hemolytic-uremic_syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1367/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/15728781 "DO"]
synonym: "familial hemolytic uremic syndrome" NARROW []
synonym: "Gasser's syndrome" EXACT []
synonym: "Gassers Syndrome" EXACT []
synonym: "Gasser syndrome" EXACT []
synonym: "haemolytic-uraemic syndrome" EXACT []
synonym: "sporadic hemolytic uremic syndrome" NARROW []
synonym: "typical hemolytic uremic syndrome" EXACT []
xref: GARD:6588
xref: ICD10CM:D59.3
xref: ICD9CM:283.11
xref: MESH:D006463
xref: MIM:PS235400
xref: NCI:C75545
is_a: DOID:225 ! syndrome
is_a: DOID:4676 ! uremia
is_a: DOID:583 ! hemolytic anemia
is_a: DOID:9000326 ! Thrombotic Microangiopathies

[Term]
id: DOID:12556
name: acute kidney tubular necrosis
def: "An acute kidney failure that is characterized by necrosis of epithelial tubule cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904420/ "DO"]
synonym: "acute renal failure with lesion of tubular necrosis" EXACT []
synonym: "acute renal failure with tubular necrosis" EXACT []
synonym: "acute tubular necrosis" EXACT []
synonym: "acute tubule necrosis" EXACT []
synonym: "ATN - acute tubular necrosis" EXACT []
synonym: "Lower Nephron Nephroses" EXACT []
synonym: "Lower Nephron Nephrosis" EXACT []
xref: EFO:1000794
xref: ICD10CM:N17.0
xref: MESH:D007683
xref: NCI:C34749
is_a: DOID:3021 ! acute kidney failure

[Term]
id: DOID:12557
name: Duane retraction syndrome
def: "A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE." [MESH:D004370]
synonym: "Acrorenoocular Syndrome" EXACT []
synonym: "acrorenoocular syndromes" EXACT []
synonym: "Co Contractive Retraction Syndrome" EXACT []
synonym: "co-contractive retraction syndromes" EXACT []
synonym: "DRRS" EXACT []
synonym: "DRS" EXACT []
synonym: "Duane's Syndrome" EXACT []
synonym: "Duane Anomaly" EXACT []
synonym: "Duane Anomaly with Radial Abnormalities and Deafness" EXACT []
synonym: "Duanes Syndrome" EXACT []
synonym: "Duane Syndrome" EXACT []
synonym: "DUS" EXACT []
synonym: "isolated Duane anomalies" EXACT []
synonym: "Isolated Duane Anomaly" EXACT []
synonym: "Isolated Duane Retraction Syndrome" EXACT []
synonym: "Ocular Retraction Syndrome" EXACT []
synonym: "Ocular Retraction Syndromes" EXACT []
synonym: "retraction syndrome" EXACT []
synonym: "retraction syndromes" EXACT []
synonym: "Stilling Turk Duane syndrome" EXACT []
synonym: "Stilling-Turk-Duane syndromes" EXACT []
xref: ICD10CM:H50.81
xref: ICD9CM:378.71
xref: MESH:D004370
xref: MIM:PS126800
xref: MONDO:0007473
xref: NCI:C84678
xref: ORDO:233
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:225 ! syndrome
is_a: DOID:540 ! strabismus
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:12558
name: chronic progressive external ophthalmoplegia
def: "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" [MESH:D017246]
synonym: "chronic progressive external ophthalmoplegia with myopathy, somatic" NARROW []
synonym: "CPEO" EXACT []
synonym: "Graefe's Disease" EXACT []
synonym: "Graefe Disease" EXACT []
synonym: "Mitochondrial Ocular Myopathy" EXACT []
synonym: "Ocular Muscular Dystrophies" EXACT []
synonym: "Ocular Muscular Dystrophy" EXACT []
synonym: "Ocular Myopathy of Von Graefe Fuchs" EXACT []
synonym: "Progressive external ophthalmoplegia" EXACT []
synonym: "progressive external ophthalmoplegia, proximal myopathy, and sudden death" RELATED []
synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions" NARROW []
xref: EFO:0002509
xref: GARD:4503
xref: ICD10CM:H49.4
xref: ICD9CM:378.72
xref: MESH:D017246
xref: MIM:PS157640
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:699 ! mitochondrial myopathy

[Term]
id: DOID:12559
name: idiopathic juvenile osteoporosis
alt_id: MIM:259750
alt_id: RDO:0003582
def: "An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. (DO)" [http://www.niams.nih.gov/Health_Info/Bone/Bone_Health/Juvenile/juvenile_osteoporosis.asp#b "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85193 "DO"]
synonym: "childhood-onset primary osteoporosis" EXACT []
synonym: "idiopathic osteoporosis" EXACT []
synonym: "juvenile osteoporosis" EXACT []
synonym: "juvenile primary osteoporosis" EXACT []
xref: ICD9CM:733.02
xref: MESH:C537700
is_a: DOID:11476 ! osteoporosis

[Term]
id: DOID:12566
name: ulceration of vulva
def: "A vulvar disease that is characterized by the presence of ulcers. (DO)" [https://www.dermnetnz.org/topics/differential-diagnosis-of-vulval-ulcers/ "DO"]
xref: ICD10CM:N77.0
xref: ICD9CM:616.51
is_a: DOID:2059 ! vulvar disease

[Term]
id: DOID:12568
name: dyscalculia
def: "A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. (DO)" [http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities "DO"]
synonym: "Acalculia" EXACT []
synonym: "acalculias" EXACT []
synonym: "Acquired Dyscalculia" EXACT []
synonym: "Acquired Dyscalculias" EXACT []
synonym: "Developmental Dyscalculia" EXACT []
synonym: "Developmental Dyscalculias" EXACT []
synonym: "disorder of arithmetical skills" EXACT []
synonym: "Dyscalculias" EXACT []
synonym: "mathematics disorder" EXACT []
synonym: "Primary Dyscalculia" EXACT []
synonym: "Primary Dyscalculias" EXACT []
synonym: "Secondary Acalculia" EXACT []
synonym: "secondary acalculias" EXACT []
xref: MESH:D060705
is_a: DOID:8927 ! learning disability

[Term]
id: DOID:12570
name: phacolytic glaucoma
def: "A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30950286/ "DO"]
xref: ICD9CM:365.51
is_a: DOID:12571 ! phacogenic glaucoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:12571
name: phacogenic glaucoma
def: "A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss. (DO)" [https://eyewiki.aao.org/Lens_Induced_Glaucomas "DO"]
xref: ICD9CM:365.59
is_a: DOID:1686 ! glaucoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:12573
name: neonatal thyrotoxicosis
xref: ICD10CM:P72.1
xref: ICD9CM:775.3
xref: NCI:C114906
is_a: DOID:7997 ! thyrotoxicosis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12574
name: posterior uveitis
def: "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." [MESH:D015866]
xref: EFO:1001119
xref: GARD:4457
xref: MESH:D015866
xref: NCI:C35111
xref: ORDO:280892
is_a: DOID:12030 ! panuveitis

[Term]
id: DOID:12577
name: urethral obstruction
def: "Partial or complete blockage in any part of the URETHRA that can lead to difficulty or inability to empty the URINARY BLADDER. It is characterized by an enlarged, often damaged, bladder with frequent urges to void." [MESH:D014524]
synonym: "obstruction of urethra" EXACT []
synonym: "urethral obstructions" EXACT []
xref: MESH:D014524
xref: NCI:C79804
is_a: DOID:5200 ! urinary tract obstruction
is_a: DOID:732 ! urethral disease

[Term]
id: DOID:12580
name: Cri-du-Chat syndrome
alt_id: MIM:123450
def: "A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. (DO)" [https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome "DO", https://www.genome.gov/Genetic-Disorders/Cri-du-Chat "DO"]
synonym: "5p deletion syndrome" EXACT []
synonym: "5p deletion syndromes" EXACT []
synonym: "5p Minus Syndrome" EXACT []
synonym: "5p Minus Syndromes" EXACT []
synonym: "5p partial monosomy syndrome" EXACT []
synonym: "5p Syndrome" EXACT []
synonym: "5p- Syndromes" EXACT []
synonym: "Cat Cry Syndrome" EXACT []
synonym: "Cat Cry Syndromes" EXACT []
synonym: "Chromosome 5p Deletion Syndrome" EXACT []
synonym: "Chromosome 5p- Syndrome" EXACT []
synonym: "Chromosome 5p- Syndromes" EXACT []
synonym: "Chromosome 5 Short Arm Deletion Syndrome" EXACT []
synonym: "Cri-du-Chat Syndromes" EXACT []
synonym: "crying cat syndrome" EXACT []
synonym: "crying cat syndromes" EXACT []
synonym: "deletion of short arm of chromosome 5 syndrome" EXACT []
xref: GARD:6213
xref: ICD10CM:Q93.4
xref: ICD9CM:758.31
xref: MESH:D003410
xref: NCI:C34518
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:12581
name: olecranon bursitis
synonym: "bursitis of elbow" EXACT []
synonym: "bursitis of elbow region" EXACT []
synonym: "capped elbow" EXACT []
synonym: "elbow bursitis" EXACT []
synonym: "miner's elbow" EXACT []
synonym: "miners' elbow" EXACT []
synonym: "shoe boil" EXACT []
xref: ICD10CM:M70.2
xref: ICD9CM:726.33
is_a: DOID:12223 ! specific bursitis often of occupational origin
is_a: DOID:204 ! enthesopathy
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:12583
name: velocardiofacial syndrome
def: "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. (DO)" [https://www.genome.gov/Genetic-Disorders/Velocardiofacial-Syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/19243607 "DO"]
synonym: "CHROMOSOME 22q11.2 DELETION SYNDROME" EXACT []
synonym: "conotruncal anomaly face syndrome/velocardiofacial syndrome" EXACT []
synonym: "deletion 22q11.2 syndrome" EXACT []
synonym: "Shprintzen syndrome" EXACT []
synonym: "Shprintzen VCF syndrome" EXACT []
synonym: "VCFS" EXACT []
synonym: "VCF syndrome" EXACT []
synonym: "VCF-velocardiofacial syndrome" EXACT []
synonym: "velo cardio facial syndrome" EXACT []
xref: ICD10CM:Q93.81
xref: ICD9CM:758.32
xref: MIM:192430
is_a: DOID:9001460 ! 22q11 Deletion Syndrome
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:12594
name: Potter's syndrome
def: "A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus. (DO)" [http://en.wikipedia.org/wiki/Potter_Syndrome "DO", https://en.wikipedia.org/wiki/Potter_sequence "DO", https://rarediseases.info.nih.gov/diseases/4462/potter-syndrome "DO"]
synonym: "Potter sequence" EXACT []
synonym: "Potter syndrome" EXACT []
xref: GARD:4462
xref: ICD10CM:Q60.6
xref: NCI:C40435
is_a: DOID:12215 ! oligohydramnios
is_a: DOID:14766 ! renal agenesis
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:1260
name: parametritis
def: "Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT." [MESH:D010249]
synonym: "parametritides" EXACT []
synonym: "pelvic cellulitides" EXACT []
synonym: "pelvic cellulitis" EXACT []
xref: EFO:1001084
xref: MESH:D010249
is_a: DOID:1003 ! pelvic inflammatory disease

[Term]
id: DOID:12603
name: acute leukemia
def: "A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream. (DO)" [http://en.wikipedia.org/wiki/Acute_leukemia "DO", http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf "DO", http://www.merck.com/mmpe/sec11/ch142/ch142b.html "DO"]
synonym: "MIXED PHENOTYPE ACUTE LEUKEMIA, T/MYELOID, NOT OTHERWISE SPECIFIED" NARROW []
synonym: "stem cell leukaemia" EXACT []
synonym: "stem cell leukemia" EXACT []
xref: EFO:1000068
xref: ICD10CM:C95.00
xref: ICD9CM:208.0
xref: ICDO:9801/3
xref: NCI:C9300
is_a: DOID:1037 ! lymphoid leukemia
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:12637
name: perineocele
def: "A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16442600 "DO"]
xref: ICD10CM:N81.81
xref: ICD9CM:618.05
is_a: DOID:1284 ! prolapse of female genital organ
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:12638
name: hypertrophic pyloric stenosis
def: "A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. (DO)" [http://en.wikipedia.org/wiki/Pyloric_stenosis "DO"]
synonym: "congenital hypertrophic pyloric stenosis" EXACT []
synonym: "congenital or infantile stricture of pylorus" EXACT []
synonym: "MIM:PS179010" EXACT []
xref: EFO:0004707
xref: ICD10CM:Q40.0
xref: ICD9CM:750.5
xref: MESH:D046248
xref: NCI:C98952
is_a: DOID:12639 ! pyloric stenosis

[Term]
id: DOID:12639
name: pyloric stenosis
def: "Narrowing of the pyloric canal with varied etiology. A common form is due to muscle hypertrophy (PYLORIC STENOSIS, HYPERTROPHIC) seen in infants." []
xref: EFO:0009626
xref: ICD10CM:K31.1
xref: MESH:D011707
xref: NCI:C34966
is_a: DOID:3122 ! gastric outlet obstruction

[Term]
id: DOID:12641
name: displacement of cardia through esophageal hiatus
synonym: "congenital hiatus hernia" EXACT []
xref: ICD10CM:Q40.1
xref: ICD9CM:750.6
is_a: DOID:12642 ! hiatus hernia

[Term]
id: DOID:12642
name: hiatus hernia
alt_id: MIM:142400
def: "STOMACH herniation located at or near the diaphragmatic opening for the ESOPHAGUS, the esophageal hiatus." [MESH:D006551]
synonym: "diaphragmatic - hiatus -hernia" EXACT []
synonym: "esophageal hernia" EXACT []
synonym: "esophageal hernias" EXACT []
synonym: "hiatal hernia" EXACT []
synonym: "Hiatal Hernias" EXACT []
synonym: "Hiatus Hernias" EXACT []
synonym: "Paraesophageal Hernia" EXACT []
synonym: "Paraesophageal Hernias" EXACT []
synonym: "Paraesophageal Hiatal Hernia" EXACT []
synonym: "Paraesophageal Hiatal Hernias" EXACT []
synonym: "Sliding Esophageal Hernia" EXACT []
synonym: "Sliding Esophageal Hernias" EXACT []
synonym: "sliding hiatal hernia" EXACT []
synonym: "sliding hiatal hernias" EXACT []
xref: ICD10CM:K44
xref: MESH:D006551
xref: NCI:C98945
is_a: DOID:76 ! stomach disease
is_a: DOID:9009073 ! Diaphragmatic Hernia

[Term]
id: DOID:12657
name: vestibulocochlear nerve disease
def: "Pathological processes of the VESTIBULOCOCHLEAR NERVE, including the branches of COCHLEAR NERVE and VESTIBULAR NERVE. Common examples are VESTIBULAR NEURITIS, cochlear neuritis, and ACOUSTIC NEUROMA. Clinical signs are varying degree of HEARING LOSS; VERTIGO; and TINNITUS." [MESH:D000160]
synonym: "Acoustic Nerve Disease" EXACT []
synonym: "acoustic nerve diseases" EXACT []
synonym: "Acoustic Nerve Disorder" EXACT []
synonym: "Acoustic Nerve Disorders" EXACT []
synonym: "Cochlear Nerve Disease" EXACT []
synonym: "Cochlear Nerve Diseases" EXACT []
synonym: "Cochlear Nerve Disorder" EXACT []
synonym: "Cochlear Nerve Disorders" EXACT []
synonym: "Cochlear Neuritides" EXACT []
synonym: "Cochlear Neuritis" EXACT []
synonym: "Cranial Nerve VIII Diseases" EXACT []
synonym: "Cranial Nerve VIII Disorders" EXACT []
synonym: "Eighth Cranial Nerve Diseases" EXACT []
synonym: "Vestibular Nerve Disease" EXACT []
synonym: "Vestibular Nerve Diseases" EXACT []
synonym: "vestibular nerve disorder" EXACT []
synonym: "vestibular nerve disorders" EXACT []
synonym: "vestibulocochlear nerve diseases" EXACT []
xref: ICD10CM:H93.3
xref: ICD9CM:388.5
xref: MESH:D000160
xref: MONDO:0001563
xref: NCI:C27207
is_a: DOID:2889 ! retrocochlear disease
is_a: DOID:5656 ! cranial nerve disease

[Term]
id: DOID:12661
name: tooth ankylosis
alt_id: MIM:157950
def: "Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" [MESH:D020254]
synonym: "ankylosis of teeth" EXACT []
synonym: "ankylosis of tooth" EXACT []
synonym: "dental ankyloses" EXACT []
synonym: "Dental Ankylosis" EXACT []
synonym: "Dentoalveolar Ankyloses" EXACT []
synonym: "Dentoalveolar Ankylosis" EXACT []
synonym: "Teeth Ankyloses" EXACT []
synonym: "teeth ankylosis" EXACT []
synonym: "tooth ankyloses" EXACT []
xref: EFO:1001215
xref: GARD:701
xref: ICD10CM:K03.5
xref: ICD9CM:521.6
xref: MESH:D020254
xref: MONDO:0008007
is_a: DOID:214 ! teeth hard tissue disease
is_a: DOID:227 ! ankylosis

[Term]
id: DOID:12662
name: paracoccidioidomycosis
def: "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. (DO)" [http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/ "DO"]
synonym: "mucocutaneous-lymphangitic paracoccidioidomycosis" EXACT []
synonym: "paracoccidioidal mycosis" EXACT []
synonym: "paracoccidioidomycoses" EXACT []
synonym: "South American blastomycosis" EXACT []
xref: EFO:0007417
xref: GARD:7323
xref: ICD10CM:B41
xref: ICD9CM:116.1
xref: MESH:D010229
xref: NCI:C34891
is_a: DOID:0050134 ! cutaneous mycosis
is_a: DOID:0050292 ! primary systemic mycosis
is_a: DOID:0080001 ! bone disease
is_a: DOID:3488 ! cellulitis
is_a: DOID:850 ! lung disease
is_a: DOID:9942 ! lymph node disease

[Term]
id: DOID:12663
name: blastomycosis
def: "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. (DO)" [http://en.wikipedia.org/wiki/Blastomycosis "DO"]
synonym: "blastomyces dermatitidis Infection" EXACT []
synonym: "blastomycoses" EXACT []
synonym: "blastomycotic infection" EXACT []
synonym: "Chicago disease" EXACT []
synonym: "Gilchrist's Disease" EXACT []
synonym: "Gilchrist Disease" EXACT []
synonym: "Gilchrists Disease" EXACT []
synonym: "infection by blastomyces dermatitidis" EXACT []
synonym: "North American blastomycosis" EXACT []
xref: EFO:0007174
xref: GARD:5931
xref: ICD10CM:B40
xref: ICD9CM:116.0
xref: MESH:D001759
xref: NCI:C34428
is_a: DOID:0050292 ! primary systemic mycosis
is_a: DOID:1563 ! dermatomycosis
is_a: DOID:9005724 ! Fungal Lung Diseases

[Term]
id: DOID:12667
name: binocular vision disease
synonym: "simultaneous visual perception without fusion" EXACT []
xref: EFO:0009535
xref: ICD10CM:H53.30
xref: ICD9CM:368.30
xref: NCI:C34422
is_a: DOID:540 ! strabismus
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:12668
name: abnormal retinal correspondence
xref: ICD10CM:H53.31
xref: ICD9CM:368.34
xref: RDO:9003359
is_a: DOID:12667 ! binocular vision disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:12678
name: hypercalcemia
def: "Abnormally high level of calcium in the blood." [MESH:D006934]
synonym: "hypercalcemia disease" EXACT []
synonym: "hypercalcemias" EXACT []
synonym: "Milk Alkali Syndrome" EXACT []
xref: EFO:0005563
xref: ICD10CM:E83.52
xref: ICD9CM:275.42
xref: MESH:D006934
xref: MIM:PS143880
xref: MONDO:0001566
xref: NCI:C3112
is_a: DOID:10575 ! calcium metabolism disease
is_a: DOID:9004004 ! Water-Electrolyte Imbalance

[Term]
id: DOID:12679
name: nephrocalcinosis
alt_id: MESH:C531755
alt_id: RDO:0000168
alt_id: RDO:0000169
def: "A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY." [MESH:D009397]
synonym: "kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules" EXACT []
synonym: "Nephrocalcinoses" EXACT []
xref: GARD:7177
xref: MESH:D009397
xref: NCI:C84918
is_a: DOID:182 ! calcinosis
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:12680
name: pseudobulbar palsy
def: "A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts. (DO)" [https://en.wikipedia.org/wiki/Corticobulbar_tract "DO", https://en.wikipedia.org/wiki/Pseudobulbar_palsy "DO"]
synonym: "Pseudobulbar Dysarthria" EXACT []
synonym: "pseudobulbar dysarthrias" EXACT []
synonym: "Pseudobulbar Mutism" EXACT []
synonym: "pseudobulbar mutisms" EXACT []
synonym: "pseudobulbar palsies" EXACT []
synonym: "Pseudobulbar Paralysis" EXACT []
synonym: "Pseudobulbar Pareses" EXACT []
synonym: "pseudobulbar paresis" EXACT []
synonym: "pseudobulbar syndrome" EXACT []
synonym: "pseudobulbar syndromes" EXACT []
synonym: "spastic bulbar palsies" EXACT []
synonym: "spastic bulbar palsy" EXACT []
xref: EFO:1001131
xref: ICD9CM:335.23
xref: MESH:D020828
xref: NCI:C129934
is_a: DOID:225 ! syndrome
is_a: DOID:231 ! motor neuron disease
is_a: DOID:9005246 ! Paralysis
is_a: DOID:936 ! brain disease

[Term]
id: DOID:12683
name: vestibular neuronitis
def: "A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. (DO)" [http://en.wikipedia.org/wiki/Vestibular_neuritis "DO", https://www.ncbi.nlm.nih.gov/pubmed/16448876 "DO"]
synonym: "Acute Peripheral Vestibulopathies" EXACT []
synonym: "Acute Peripheral Vestibulopathy" EXACT []
synonym: "Acute Vestibular Neuritides" EXACT []
synonym: "Acute Vestibular Neuritis" EXACT []
synonym: "Epidemic Neurolabyrinthitides" EXACT []
synonym: "Epidemic Neurolabyrinthitis" EXACT []
synonym: "Episodic Recurrent Vertigo" EXACT []
synonym: "Episodic Recurrent Vertigos" EXACT []
synonym: "Recurrent Vestibular Neuritides" EXACT []
synonym: "Recurrent Vestibular Neuritis" EXACT []
synonym: "Recurrent Vestibulopathies" EXACT []
synonym: "Recurrent Vestibulopathy" EXACT []
synonym: "Subacute Vestibular Neuritides" EXACT []
synonym: "Subacute Vestibular Neuritis" EXACT []
synonym: "Vestibular Nerve Inflammation" EXACT []
synonym: "Vestibular Nerve Inflammations" EXACT []
synonym: "Vestibular Nerve Neuritides" EXACT []
synonym: "Vestibular Nerve Neuritis" EXACT []
synonym: "Vestibular Neuritides" EXACT []
synonym: "Vestibular Neuritis" EXACT []
synonym: "Vestibular Neuronitides" EXACT []
synonym: "Vestibular Neuropathies" EXACT []
synonym: "Vestibular Neuropathy" EXACT []
xref: EFO:0007537
xref: ICD10CM:H81.2
xref: ICD9CM:386.12
xref: MESH:D020338
is_a: DOID:12657 ! vestibulocochlear nerve disease
is_a: DOID:4953 ! poliomyelitis

[Term]
id: DOID:12685
name: mixed receptive-expressive language disorder
def: "A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. (DO)" [http://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder, http://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder "DO"]
xref: ICD10CM:F80.2
xref: ICD9CM:315.32
xref: NCI:C92563
is_a: DOID:2033 ! communication disorder

[Term]
id: DOID:12689
name: acoustic neuroma
def: "A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)" [MESH:D009464]
synonym: "acoustic neurilemmoma" EXACT []
synonym: "acoustic neurilemmomas" EXACT []
synonym: "Acoustic Neurilemoma" EXACT []
synonym: "Acoustic Neurilemomas" EXACT []
synonym: "Acoustic Neurinoma" EXACT []
synonym: "Acoustic Neurinomas" EXACT []
synonym: "Acoustic Neuromas" EXACT []
synonym: "Acoustic Schwannoma" EXACT []
synonym: "Acoustic Schwannomas" EXACT []
synonym: "Acoustic Tumor" EXACT []
synonym: "Acoustic Tumors" EXACT []
synonym: "Cerebellopontine Angle Acoustic Neuroma" EXACT []
synonym: "Melanocytic Vestibular Schwannoma" EXACT []
synonym: "Melanocytic Vestibular Schwannomas" EXACT []
synonym: "neurinoma of the acoustic nerve" EXACT []
synonym: "unilateral acoustic neuroma" EXACT []
synonym: "vestibular neurilemmoma" EXACT []
synonym: "vestibular schwannoma" EXACT []
synonym: "vestibular schwannomas" EXACT []
xref: EFO:0000693
xref: GARD:223
xref: MESH:D009464
xref: NCI:C3276
is_a: DOID:12657 ! vestibulocochlear nerve disease
is_a: DOID:3192 ! neurilemmoma
is_a: DOID:9006815 ! Otorhinolaryngologic Neoplasms

[Term]
id: DOID:12697
name: locked-in syndrome
def: "A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. (DO)" [http://rarediseases.org/rare-diseases/locked-in-syndrome/ "DO"]
synonym: "cerebromedullospinal disconnection" EXACT []
synonym: "de-efferented state" EXACT []
synonym: "locked-in state" EXACT []
synonym: "locked-in syndromes" EXACT []
synonym: "ventral pontine syndrome" EXACT []
xref: GARD:6919
xref: ICD10CM:G83.5
xref: ICD9CM:344.81
xref: MESH:D000080422
is_a: DOID:12835 ! quadriplegia
is_a: DOID:225 ! syndrome
is_a: DOID:440 ! neuromuscular disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:12698
name: gynecomastia
def: "A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels. (DO)" [https://my.clevelandclinic.org/health/diseases/16227-enlarged-male-breast-tissue-gynecomastia "DO", https://www.mayoclinic.org/diseases-conditions/gynecomastia/symptoms-causes/syc-20351793 "DO"]
synonym: "Adolescent Gynecomastia" EXACT []
synonym: "Male Breast Enlargement" EXACT []
xref: ICD10CM:N62
xref: MESH:D006177
xref: NCI:C3073
is_a: DOID:1923 ! disorder of sexual development
is_a: DOID:3463 ! breast disease

[Term]
id: DOID:127
name: leiomyoma
def: "A cell type benign neoplasm that is a benign tumor of smooth muscle cells. (DO)" [http://en.wikipedia.org/wiki/Cancer "DO", http://en.wikipedia.org/wiki/Leiomyoma "DO"]
synonym: "Fibroid" EXACT []
synonym: "fibroids" EXACT []
synonym: "Fibroid Tumor" EXACT []
synonym: "Fibroid Tumors" EXACT []
synonym: "Fibroid Uterus" EXACT []
synonym: "Fibromyoma" EXACT []
synonym: "Fibromyomas" EXACT []
synonym: "Leiomyomas" EXACT []
synonym: "leiomyomatous neoplasm" EXACT []
synonym: "leiomyomatous tumor" EXACT []
synonym: "renal leiomyoma" NARROW []
synonym: "Uterine Fibroma" EXACT []
synonym: "uterine fibromas" EXACT []
xref: EFO:1000050
xref: ICDO:8890/0
xref: MESH:D007889
xref: NCI:C3157
xref: NCI:C60426
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:9003582 ! Muscle Tissue Neoplasms

[Term]
id: DOID:1270
name: hereditary hemorrhagic telangiectasia
def: "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. (DO)" [http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia "DO", http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia "DO", http://www.ncbi.nlm.nih.gov/books/NBK1351/ "DO"]
synonym: "hereditary hemorrhagic telangiectasia of Rendu, Osler, and Weber" EXACT []
synonym: "HHT" EXACT []
synonym: "ORW Disease" EXACT []
synonym: "Osler's disease" EXACT []
synonym: "Osler disease" EXACT []
synonym: "OSLER HEMORRHAGIC TELANGIECTASIA SYNDROME" RELATED []
synonym: "Osler Rendu disease" EXACT []
synonym: "Osler Rendu Weber disease" EXACT []
synonym: "Osler Weber Rendu syndrome" EXACT []
synonym: "PULMONARY ARTERIOVENOUS MALFORMATION" NARROW []
synonym: "Rendu Osler Weber" EXACT []
synonym: "Weber Osler" EXACT []
xref: GARD:6626
xref: ICD10CM:I78.0
xref: ICD9CM:448.0
xref: MESH:D013683
xref: MIM:PS187300
xref: NCI:C35064
xref: ORDO:774
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1272 ! telangiectasis
is_a: DOID:484 ! vascular hemostatic disease
is_a: DOID:9003191 ! Vascular Malformations

[Term]
id: DOID:12700
name: hyperprolactinemia
alt_id: MIM:615555
def: "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. (DO)" [http://en.wikipedia.org/wiki/Hyperprolactinemia "DO"]
synonym: "FAMILIAL HYPERPROLACTINEMIA" NARROW []
synonym: "HPRL" EXACT []
synonym: "Hyperprolactinaemia" EXACT []
synonym: "hyperprolactinemias" EXACT []
synonym: "Inappropriate Prolactin Secretion" EXACT []
synonym: "Inappropriate Prolactin Secretion Syndrome" EXACT []
synonym: "pregnancy-related A-G syndrome" EXACT []
synonym: "prolactin hypersecretion syndrome" EXACT []
xref: EFO:0007319
xref: ICD10CM:E22.1
xref: MESH:D006966
xref: NCI:C113168
is_a: DOID:0060158 ! acquired metabolic disease
is_a: DOID:2444 ! hyperpituitarism

[Term]
id: DOID:12704
name: ataxia telangiectasia
alt_id: MIM:208900
def: "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. (DO)" [https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia "DO"]
synonym: "AT" EXACT []
synonym: "AT1" EXACT []
synonym: "ATA" NARROW []
synonym: "ataxia telangiectasia syndrome" EXACT []
synonym: "ATAXIA-TELANGIECTASIA VARIANT" NARROW []
synonym: "ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY" NARROW []
synonym: "ATC" NARROW []
synonym: "AT, COMPLEMENTATION GROUP C" NARROW []
synonym: "AT, COMPLEMENTATION GROUP D" NARROW []
synonym: "AT, COMPLEMENTATION GROUP E" NARROW []
synonym: "ATD" NARROW []
synonym: "ATE" NARROW []
synonym: "Boder-Sedgwick syndrome" EXACT []
synonym: "cerebello-oculocutaneous telangiectasia" EXACT []
synonym: "Louis Bar syndrome" EXACT []
synonym: "LOUIS-BAR SYNDROME AT, COMPLEMENTATION GROUP A" NARROW []
xref: EFO:0004924
xref: GARD:5862
xref: MESH:D001260
xref: MONDO:0008840
xref: NCI:C2887
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
is_a: DOID:1272 ! telangiectasis
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9001734 ! Neurocutaneous Syndromes
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders

[Term]
id: DOID:12705
name: Friedreich ataxia
def: "An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)" [MESH:D005621]
synonym: "Friedreich's Ataxia" EXACT []
synonym: "Friedreich's Disease" EXACT []
synonym: "Friedreich's Familial Ataxia" EXACT []
synonym: "Friedreich's Hereditary Ataxia" EXACT []
synonym: "Friedreich's hereditary ataxias" EXACT []
synonym: "Friedreich's hereditary spinal ataxia" EXACT []
synonym: "Friedreich's tabes" EXACT []
synonym: "Friedreich ataxias" EXACT []
synonym: "Friedreich disease" EXACT []
synonym: "Friedreich familial ataxia" EXACT []
synonym: "Friedreich Hereditary Ataxia" EXACT []
synonym: "Friedreich Hereditary Spinal Ataxia" EXACT []
synonym: "Friedreichs Familial Ataxia" EXACT []
synonym: "Friedreichs Hereditary Ataxia" EXACT []
synonym: "Friedreich spinocerebellar ataxia" EXACT []
synonym: "hereditary spinal scleroses" EXACT []
synonym: "hereditary spinal sclerosis" EXACT []
xref: GARD:6468
xref: ICD10CM:G11.11
xref: ICD9CM:334.0
xref: MESH:D005621
xref: NCI:C84718
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9277 ! primary cerebellar degeneration

[Term]
id: DOID:12707
name: myoclonic cerebellar dyssynergia
alt_id: MIM:213400
def: "A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" [MESH:D002527]
synonym: "cerebellar dyssynergia" EXACT []
synonym: "cerebellar dyssynergias" EXACT []
synonym: "cerebelloparenchymal disorder V" EXACT []
synonym: "CPD5" EXACT []
synonym: "Dentate Cerebellar Ataxia" EXACT []
synonym: "Dentate Cerebellar Ataxias" EXACT []
synonym: "Dentate Cerebellar Atrophies" EXACT []
synonym: "Dentate Cerebellar Atrophy" EXACT []
synonym: "Dentate Nucleus Syndrome, Ramsay Hunt" EXACT []
synonym: "Dyssynergia Cerebellaris Myoclonica" EXACT []
synonym: "Dyssynergia Cerebellaris Myoclonica Of Hunt" EXACT []
synonym: "Dyssynergia Cerebellaris Progressiva" EXACT []
synonym: "Myoclonic Cerebellar Dyssynergias" EXACT []
synonym: "myoclonus and ataxia" EXACT []
synonym: "progressive cerebellar tremor" EXACT []
synonym: "Ramsay Hunt cerebellar syndrome" EXACT []
synonym: "Ramsay Hunt dentate syndrome" EXACT []
synonym: "spinodentate atrophy" EXACT []
xref: EFO:1001053
xref: GARD:9256
xref: MESH:D002527
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:9277 ! primary cerebellar degeneration

[Term]
id: DOID:1271
name: capillary disease
def: "A vascular disease that is located_in the capillaries. (DO)" [http://en.wikipedia.org/wiki/Capillary#Pathophysiology "DO"]
synonym: "disease of capillaries" EXACT []
xref: ICD10CM:I78
xref: ICD9CM:448
xref: RDO:9002798
is_a: DOID:178 ! vascular disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12711
name: black piedra
def: "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. (DO)" [http://en.wikipedia.org/wiki/Black_piedra "DO", http://mycology.adelaide.edu.au/Mycoses/Superficial/Black_piedra/ "DO"]
xref: EFO:0007171
xref: ICD10CM:B36.3
xref: ICD9CM:111.3
is_a: DOID:0050133 ! superficial mycosis

[Term]
id: DOID:12712
name: nephronophthisis
def: "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/ "DO"]
synonym: "medullary cystic disease" EXACT []
synonym: "medullary cystic kidney" EXACT []
synonym: "Nephronophthisis 8" NARROW []
xref: GARD:206
xref: ICD10CM:Q61.5
xref: MIM:PS256100
xref: NCI:C123200
xref: ORDO:655
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2975 ! cystic kidney disease
created_by: rgd
creation_date: 2015-05-12T00:00:00Z

[Term]
id: DOID:12714
name: Ellis-Van Creveld syndrome
alt_id: MIM:225500
def: "A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. (DO)" [https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/10700184 "DO"]
synonym: "Chondroectodermal Dysplasia" EXACT []
synonym: "chondroectodermal dysplasias" EXACT []
synonym: "Ellis Van Creveld dysplasia" EXACT []
synonym: "EVC" EXACT []
synonym: "mesoectodermal dysplasia" EXACT []
synonym: "mesoectodermal dysplasias" EXACT []
xref: GARD:1301
xref: ICD10CM:Q77.6
xref: ICD9CM:756.55
xref: MESH:D004613
xref: NCI:C84684
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:12716
name: newborn respiratory distress syndrome
alt_id: DOID:9002636
alt_id: MESH:C538359
alt_id: OMIA:000101
def: "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory+distress+syndrome "DO"]
synonym: "HMD - hyaline membrane disease" EXACT []
synonym: "infantile respiratory distress syndrome" EXACT []
synonym: "NEONATAL RESPIRATORY DISTRESS" EXACT []
synonym: "Neonatal Respiratory Distress Syndrome" EXACT []
synonym: "pulmonary hyaline membrane disease" EXACT []
synonym: "pulmonary hypoperfusion syndrome of newborn" EXACT []
synonym: "RDS - Infants" EXACT []
synonym: "respiratory distress syndrome, infant" EXACT []
synonym: "respiratory distress syndrome of newborn" EXACT []
xref: EFO:1000644
xref: ICD10CM:P22.0
xref: MESH:D012127
is_a: DOID:11162 ! respiratory failure
is_a: DOID:850 ! lung disease
is_a: DOID:9004676 ! Premature Infant Diseases

[Term]
id: DOID:12718
name: chronic gonococcal salpingitis
def: "A chronic salpingitis that is caused by gonorrhea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14846362 "DO"]
synonym: "gonococcal salpingitis" EXACT []
xref: ICD9CM:098.37
is_a: DOID:5731 ! chronic salpingitis
is_a: DOID:9008538 ! Neisseriaceae Infections
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:1272
name: telangiectasis
def: "Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders." [MESH:D013684]
synonym: "spider vein" EXACT []
synonym: "spider veins" EXACT []
synonym: "Telangiectases" EXACT []
synonym: "telangiectasia" EXACT []
synonym: "telangiectasias" EXACT []
xref: MESH:D013684
xref: NCI:C28194
is_a: DOID:341 ! peripheral vascular disease

[Term]
id: DOID:12720
name: cerebral atherosclerosis
synonym: "cerebral atheroscleroses" EXACT []
xref: EFO:1000860
xref: ICD10CM:I67.2
xref: ICD9CM:437.0
xref: NCI:C34459
is_a: DOID:1936 ! atherosclerosis

[Term]
id: DOID:12721
name: multiple epiphyseal dysplasia
def: "An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. (DO)" [http://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia "DO", http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia "DO"]
synonym: "multiple epiphyseal dysplasia, dominant" RELATED []
synonym: "polyepiphyseal dysplasia" EXACT []
xref: GARD:10756
xref: ICD9CM:756.56
xref: MIM:PS132400
xref: ORDO:251
xref: RDO:9002946
is_a: DOID:2256 ! osteochondrodysplasia
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:1273
name: respiratory syncytial virus infectious disease
def: "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. (DO)" [http://www.merck.com/mmhe/sec23/ch273/ch273i.html?qt=respiratory%20syncytial%20virus&alt=sh#sec23-ch273-ch273i-982g "DO"]
synonym: "respiratory syncytial virus" EXACT []
synonym: "respiratory syncytial virus infection" EXACT []
synonym: "respiratory syncytial virus infections" EXACT []
synonym: "RSV" EXACT []
synonym: "RSV infection" EXACT []
synonym: "RSV infectious disease" EXACT []
xref: EFO:1001413
xref: MESH:D018357
xref: NCI:C3354
is_a: DOID:9001953 ! Pneumovirus Infections
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:12731
name: pars planitis
alt_id: MIM:606177
def: "Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." [MESH:D015868]
synonym: "posterior cyclitis" EXACT []
xref: EFO:1001088
xref: GARD:7339
xref: ICD10CM:H30.2
xref: ICD9CM:363.21
xref: MESH:D015868
xref: NCI:C34903
is_a: DOID:11406 ! choroiditis
is_a: DOID:12732 ! intermediate uveitis
is_a: DOID:8886 ! chorioretinitis

[Term]
id: DOID:12732
name: intermediate uveitis
def: "Inflammation of the pars plana, ciliary body, and adjacent structures." [MESH:D015867]
synonym: "chronic cyclitis" EXACT []
synonym: "peripheral uveoretinitis" EXACT []
xref: EFO:1000986
xref: MESH:D015867
xref: NCI:C35110
is_a: DOID:13141 ! uveitis

[Term]
id: DOID:12733
name: hypercementosis
alt_id: RDO:0005831
def: "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" [MESH:D006936]
synonym: "cementation hyperplasia" EXACT []
synonym: "Hypercementoses" EXACT []
xref: EFO:1000970
xref: ICD10CM:K03.4
xref: ICD9CM:521.5
xref: MESH:D006936
is_a: DOID:214 ! teeth hard tissue disease

[Term]
id: DOID:12735
name: hernia of ovary and fallopian tube
def: "A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327571/ "DO"]
xref: ICD10CM:N83.4
xref: ICD10CM:N83.40
xref: ICD9CM:620.4
is_a: DOID:229 ! female reproductive system disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:12750
name: cyclosporiasis
def: "A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. (DO)" [https://www.cdc.gov/parasites/cyclosporiasis/index.html "DO"]
synonym: "cyclosporiases" EXACT []
xref: EFO:0007230
xref: GARD:9528
xref: ICD10CM:A07.4
xref: ICD9CM:007.5
xref: MESH:D021866
xref: NCI:C128409
is_a: DOID:2113 ! coccidiosis

[Term]
id: DOID:12753
name: corneal staphyloma
xref: ICD10CM:H18.72
xref: ICD9CM:371.73
xref: RDO:9003434
is_a: DOID:10124 ! corneal disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:12756
name: lacrimal duct cancer
synonym: "malignant neoplasm of lacrimal duct" EXACT []
synonym: "malignant tumor of lacrimal duct" EXACT []
xref: ICD9CM:190.7
xref: NCI:C3567
is_a: DOID:292 ! lacrimal system cancer
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:12759
name: choroid cancer
synonym: "malignant tumor of choroid" EXACT [SNOMEDCT_2005_07_31:363466008]
synonym: "malignant tumor of the choroid" EXACT [NCI2004_11_17:C3566]
xref: EFO:1000866
xref: ICD10CM:C69.3
xref: ICD9CM:190.6
xref: NCI:C2949
xref: NCI:C3566
is_a: DOID:3479 ! uveal cancer
is_a: DOID:9000994 ! Choroid Neoplasms

[Term]
id: DOID:1278
name: Tolosa-Hunt syndrome
def: "An idiopathic syndrome characterized by the formation of granulation tissue in the anterior cavernous sinus or superior orbital fissure, producing a painful ophthalmoplegia. (Adams et al., Principles of Neurology, 6th ed, p271)" [MESH:D020333]
xref: GARD:7777
xref: MESH:D020333
xref: NCI:C85193
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:12782
name: cicatricial ectropion
xref: ICD9CM:374.14
is_a: DOID:1570 ! ectropion

[Term]
id: DOID:12783
name: migraine without aura
alt_id: MIM:607501
def: "A migraine that is characterized by migraine headaches that are not accompanied by an aura. (DO)" [http://en.wikipedia.org/wiki/Migraine "DO"]
synonym: "Common Migraine" EXACT []
synonym: "Common Migraines" EXACT []
synonym: "MGOA" EXACT []
synonym: "MGR4" RELATED []
synonym: "migraine without aura, susceptibility to, 4" RELATED []
xref: EFO:0005296
xref: ICD10CM:G43.0
xref: ICD9CM:346.1
xref: MESH:D020326
xref: MONDO:0011847
xref: MONDO:0100431
xref: NCI:C117004
is_a: DOID:6364 ! migraine

[Term]
id: DOID:12785
name: diabetic polyneuropathy
synonym: "diabetes mellitus with polyneuropathy" EXACT []
synonym: "polyneuropathy in diabetes" EXACT []
xref: EFO:1000783
xref: ICD9CM:357.2
is_a: DOID:9743 ! diabetic neuropathy
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:1279
name: ocular motility disease
def: "Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)" []
synonym: "conjugate gaze spasm" EXACT []
synonym: "conjugate gaze spasms" EXACT []
synonym: "Convergence Excess" EXACT []
synonym: "Convergence Excesses" EXACT []
synonym: "Convergence Insufficiencies" EXACT []
synonym: "Convergence Insufficiency" EXACT []
synonym: "Cyclophoria" EXACT []
synonym: "Cyclophorias" EXACT []
synonym: "disorder of eye movements" EXACT [SNOMEDCT_2005_07_31:45030009]
synonym: "Eye Motility Disorder" EXACT []
synonym: "Eye Motility Disorders" EXACT []
synonym: "Eye Movement Disorder" EXACT []
synonym: "Eye Movement Disorders" EXACT []
synonym: "Ocular Motility Disorder" EXACT []
synonym: "Ocular Motility Disorders" EXACT []
synonym: "Ocular Torticollis" EXACT []
synonym: "Opsoclonus" EXACT []
synonym: "Parinaud's Syndrome" EXACT []
synonym: "Parinauds Syndrome" EXACT []
synonym: "Parinaud Syndrome" EXACT []
synonym: "Paroxysmal Ocular Dyskinesia" EXACT []
synonym: "Paroxysmal Ocular Dyskinesias" EXACT []
synonym: "Pseudoophthalmoplegia" EXACT []
synonym: "Pseudoophthalmoplegias" EXACT []
synonym: "Skew Deviation" EXACT []
synonym: "Skew Deviations" EXACT []
synonym: "Smooth Pursuit Deficiencies" EXACT []
synonym: "smooth pursuit deficiency" EXACT []
synonym: "spasm of conjugate gaze" EXACT []
xref: EFO:1001990
xref: GARD:7061
xref: GARD:7237
xref: ICD9CM:378.9
xref: MESH:D015835
is_a: DOID:331 ! central nervous system disease
is_a: DOID:5614 ! eye disease
is_a: DOID:5656 ! cranial nerve disease

[Term]
id: DOID:12797
name: hallucinogen abuse
def: "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Hallucinogen "DO"]
synonym: "hallucinogen use disorder" EXACT []
xref: ICD10CM:F16.1
xref: ICD9CM:305.3
is_a: DOID:302 ! substance abuse
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:12798
name: mucopolysaccharidosis
def: "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. (DO)" [http://en.wikipedia.org/wiki/Mucopolysaccharidosis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis "DO"]
synonym: "IDUA pseudodeficiency" RELATED []
synonym: "mucopolysaccharidoses" EXACT []
xref: GARD:7065
xref: ICD10CM:E76.3
xref: ICD9CM:277.5
xref: MESH:D009083
xref: MIM:PS607014
xref: NCI:C61259
xref: ORDO:79213
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:3141 ! mucinoses
is_a: DOID:3211 ! lysosomal storage disease

[Term]
id: DOID:12799
name: mucopolysaccharidosis II
alt_id: MIM:309900
def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. (DO)" [http://en.wikipedia.org/wiki/Hunter_syndrome "DO"]
synonym: "deficiency of iduronate-2-sulphatase" EXACT []
synonym: "Hunter's syndrome" EXACT []
synonym: "Hunters syndrome" EXACT []
synonym: "Hunter Syndrome" EXACT []
synonym: "Hunter Syndrome Gargoylism" EXACT []
synonym: "I2S Deficiency" EXACT []
synonym: "IDS DEFICIENCY" EXACT []
synonym: "Iduronate 2 Sulfatase Deficiency" EXACT []
synonym: "Iduronate Sulfatase Deficiency" EXACT []
synonym: "MPS2" EXACT []
synonym: "MPS II" EXACT []
synonym: "MPS II - Hunter syndrome" EXACT []
synonym: "Mucopolysaccharidosis 2" EXACT []
synonym: "MUCOPOLYSACCHARIDOSIS, MPS-II" EXACT []
synonym: "Mucopolysaccharidosis Type 2" EXACT []
synonym: "Mucopolysaccharidosis Type II" EXACT []
synonym: "mucopolysaccharidosis type II, mild form" NARROW []
synonym: "mucopolysaccharidosis type II, severe form" NARROW []
synonym: "SIDS deficiency" EXACT []
synonym: "sulfoiduronate sulfatase deficiency" EXACT []
xref: GARD:6675
xref: ICD10CM:E76.1
xref: MESH:D016532
xref: NCI:C61260
xref: ORDO:580
is_a: DOID:12798 ! mucopolysaccharidosis
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:12800
name: mucopolysaccharidosis VI
alt_id: MIM:253200
alt_id: OMIA:000666
def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. (DO)" [http://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome "DO"]
synonym: "ARSB deficiencies" EXACT []
synonym: "ARSB deficiency" EXACT []
synonym: "arylsulfatase B deficiencies" EXACT []
synonym: "Arylsulfatase B Deficiency" EXACT []
synonym: "deficiency of N-acetylgalactosamine-4-sulfatase" EXACT []
synonym: "Maroteaux Lamy Syndrome" EXACT []
synonym: "MPS6" EXACT []
synonym: "MPS VI" EXACT []
synonym: "MPS VI - Maroteaux-Lamy syndrome" EXACT []
synonym: "Mucopolysaccharidosis 6" EXACT []
synonym: "Mucopolysaccharidosis Type 6" EXACT []
synonym: "mucopolysaccharidosis type VI" EXACT []
synonym: "mucopolysaccharidosis type VI, intermediate" NARROW []
synonym: "mucopolysaccharidosis type VI, mild" NARROW []
synonym: "mucopolysaccharidosis type VI, severe" NARROW []
synonym: "N-acetylgalactosamine-4-sulfatase deficiencies" EXACT []
synonym: "N-acetylgalactosamine-4-sulfatase deficiency" EXACT []
synonym: "polydystrophic dwarfism" EXACT []
xref: GARD:7095
xref: MESH:D009087
xref: NCI:C61264
xref: ORDO:583
is_a: DOID:12798 ! mucopolysaccharidosis

[Term]
id: DOID:12801
name: mucopolysaccharidosis III
alt_id: OMIA:001309
alt_id: OMIA:001342
def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. (DO)" [http://en.wikipedia.org/wiki/Sanfilippo_syndrome "DO"]
synonym: "acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiencies" EXACT []
synonym: "acetyl CoA:alpha glucosaminide N-acetyltransferase deficiency" EXACT []
synonym: "Heparan Sulfate Sulfatase Deficiency" EXACT []
synonym: "Mucopolysaccharidosis 3" EXACT []
synonym: "mucopolysaccharidosis, MPS-III" EXACT []
synonym: "N-acetyl-alpha-D-glucosaminidase deficiencies" EXACT []
synonym: "N Acetyl alpha D Glucosaminidase Deficiency" EXACT []
synonym: "NAGLU deficiencies" EXACT []
synonym: "NAGLU Deficiency" EXACT []
synonym: "N-sulphoglucosamine sulphohydrolase deficiency" EXACT []
synonym: "Polydystrophic Oligophrenia" EXACT []
synonym: "Polydystrophic Oligophrenias" EXACT []
synonym: "San Filippo's Syndrome" EXACT []
synonym: "Sanfilippo's Syndrome" EXACT []
synonym: "SANFILIPPO DISEASE" EXACT []
synonym: "San Filippos Syndrome" EXACT []
synonym: "Sanfilippos Syndrome" EXACT []
synonym: "San Filippo Syndrome" EXACT []
synonym: "Sanfilippo syndrome" EXACT []
synonym: "Sanfilippo syndromes" EXACT []
synonym: "sulfamidase deficiencies" EXACT []
synonym: "sulfamidase deficiency" EXACT []
xref: MESH:D009084
xref: NCI:C61262
xref: NCI:C84897
xref: NCI:C84898
xref: ORDO:581
is_a: DOID:12798 ! mucopolysaccharidosis

[Term]
id: DOID:12802
name: mucopolysaccharidosis I
alt_id: OMIA:000664
def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. (DO)" [http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I "DO"]
synonym: "alpha-L-Iduronidase Deficiencies" EXACT []
synonym: "alpha L Iduronidase Deficiency" EXACT []
synonym: "Hurler Scheie Syndrome" EXACT []
synonym: "IDUA-RELATED CONDITION" EXACT []
synonym: "iduronidase deficiency disease" EXACT []
synonym: "Lipochondrodystrophies" EXACT []
synonym: "Lipochondrodystrophy" EXACT []
synonym: "Mucopolysaccharidosis 1" EXACT []
synonym: "Mucopolysaccharidosis, MPS-I" EXACT [SNOMEDCT_2005_07_31:75610003]
synonym: "mucopolysaccharidosis type 1" EXACT []
synonym: "mucopolysaccharidosis type I" EXACT []
xref: GARD:10335
xref: MESH:D008059
xref: NCI:C85053
is_a: DOID:12798 ! mucopolysaccharidosis

[Term]
id: DOID:12803
name: Sly syndrome
alt_id: MIM:253220
alt_id: OMIA:000667
def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. (DO)" [http://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII "DO", http://omim.org/entry/253220 "DO"]
synonym: "beta-glucuronidase deficiencies" EXACT []
synonym: "beta Glucuronidase Deficiency" EXACT []
synonym: "deficiency of beta-glucuronidase" EXACT []
synonym: "GUSB deficiencies" EXACT []
synonym: "GUSB Deficiency" EXACT []
synonym: "MPS7" EXACT []
synonym: "MPS VII" EXACT []
synonym: "MPS VII - Sly syndrome" EXACT []
synonym: "Mucopolysaccharidosis 7" EXACT []
synonym: "mucopolysaccharidosis type VII" EXACT []
synonym: "mucopolysaccharidosis VII" EXACT []
synonym: "Sly disease" EXACT []
xref: ICD10CM:E76.29
xref: MESH:D016538
xref: NCI:C84903
is_a: DOID:12798 ! mucopolysaccharidosis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:12804
name: mucopolysaccharidosis IV
def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. (DO)" [http://en.wikipedia.org/wiki/Morquio_syndrome "DO"]
synonym: "chondroosteodystrophy" NARROW []
synonym: "deficiency of chondroitinsulphatase" EXACT []
synonym: "deficiency of N-acetylgalactosamine-6-sulphatase" EXACT []
synonym: "Eccentroosteochondrodysplasia" EXACT []
synonym: "eccentro osteochondrodysplasia" EXACT []
synonym: "Eccentroosteochondrodysplasias" EXACT []
synonym: "eccentro-osteochondrodysplasias" EXACT []
synonym: "Galactosamine-6-Sulfatase Deficiencies" EXACT []
synonym: "Galactosamine 6 Sulfatase Deficiency" EXACT []
synonym: "Morquio's Disease" EXACT []
synonym: "Morquio's Syndrome" EXACT []
synonym: "Morquio Disease" EXACT []
synonym: "Morquios Disease" EXACT []
synonym: "Morquios Syndrome" EXACT []
synonym: "Morquio Syndrome" EXACT []
synonym: "Morquio Syndromes" EXACT []
synonym: "Mucopolysaccharidosis 4" EXACT []
synonym: "mucopolysaccharidosis, MPS-IV" EXACT []
synonym: "mucopolysaccharidosis type IV" EXACT []
synonym: "osteochondrodystrophy" NARROW []
xref: ICD10CM:E76.219
xref: MESH:D009085
xref: NCI:C61263
is_a: DOID:12798 ! mucopolysaccharidosis

[Term]
id: DOID:12809
name: chronic lacrimal gland enlargement
synonym: "chronic enlargement of lacrimal gland" EXACT []
xref: ICD10CM:H04.03
xref: ICD9CM:375.03
is_a: DOID:950 ! dacryoadenitis
is_a: DOID:9938 ! dacryocystitis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:1283
name: enterocele
def: "A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8202302 "DO"]
synonym: "hernia" EXACT []
synonym: "hernias" EXACT []
synonym: "vaginal enterocele" NARROW []
xref: EFO:0020006
xref: ICD10CM:K46
xref: ICD9CM:618.6
xref: MESH:D006547
is_a: DOID:1284 ! prolapse of female genital organ
is_a: DOID:1285 ! rectal disease
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:12835
name: quadriplegia
def: "Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts." [MESH:D011782]
synonym: "Flaccid Quadriplegia" EXACT []
synonym: "flaccid quadriplegias" EXACT []
synonym: "Flaccid Tetraplegia" EXACT []
synonym: "Flaccid Tetraplegias" EXACT []
synonym: "Paralysis, Spinal, Quadriplegic" EXACT []
synonym: "Quadripareses" EXACT []
synonym: "Quadriparesis" EXACT []
synonym: "Quadriplegias" EXACT []
synonym: "Spastic Quadriplegia" EXACT []
synonym: "Spastic Quadriplegias" EXACT []
synonym: "Spastic Tetraplegia" EXACT []
synonym: "Spastic Tetraplegias" EXACT []
synonym: "Tetraplegia" EXACT []
synonym: "tetraplegias" EXACT []
xref: EFO:0009684
xref: ICD10CM:G82.5
xref: ICD9CM:344.00
xref: MESH:D011782
xref: NCI:C50721
is_a: DOID:331 ! central nervous system disease
is_a: DOID:9005246 ! Paralysis

[Term]
id: DOID:12836
name: senile entropion
synonym: "involutional entropion" EXACT []
xref: ICD9CM:374.01
is_a: DOID:12397 ! entropion

[Term]
id: DOID:12837
name: thyroid crisis
def: "A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems." [MESH:D013958]
synonym: "Thyroid Storm" EXACT []
synonym: "Thyrotoxic Crisis" EXACT []
synonym: "Thyrotoxic Storm" EXACT []
xref: EFO:1001212
xref: MESH:D013958
xref: NCI:C112836
is_a: DOID:50 ! thyroid gland disease
is_a: DOID:7997 ! thyrotoxicosis

[Term]
id: DOID:1284
name: prolapse of female genital organ
def: "A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening. (DO)" [https://www.aafp.org/afp/2010/0501/p1111.html "DO"]
xref: ICD9CM:618.8
is_a: DOID:229 ! female reproductive system disease
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:12841
name: ancylostomiasis
def: "A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. (DO)" [http://en.wikipedia.org/wiki/Ancylostomiasis "DO"]
synonym: "ancylostomiases" EXACT []
xref: EFO:0007145
xref: GARD:9742
xref: ICD10CM:B76.0
xref: MESH:D000724
xref: NCI:C35805
is_a: DOID:37 ! skin disease
is_a: DOID:5614 ! eye disease
is_a: DOID:9006535 ! Hookworm Infections

[Term]
id: DOID:12842
name: Guillain-Barre syndrome
alt_id: MIM:139393
def: "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. (DO)" [http://www.ninds.nih.gov/disorders/gbs/gbs.htm "DO"]
synonym: "acute autoimmune neuropathies" EXACT []
synonym: "Acute Autoimmune Neuropathy" EXACT []
synonym: "Acute Infectious Polyneuritis" EXACT []
synonym: "acute infective polyneuritis" EXACT []
synonym: "acute inflammatory demyelinating polyneuropathy" NARROW []
synonym: "Acute Inflammatory Demyelinating Polyradiculoneuropathy" EXACT []
synonym: "acute inflammatory demyelinating polyradiculopathy" EXACT []
synonym: "Acute Inflammatory Polyneuropathies" EXACT []
synonym: "Acute Inflammatory Polyneuropathy" EXACT []
synonym: "Acute Inflammatory Polyradiculoneuropathies" EXACT []
synonym: "Acute Inflammatory Polyradiculoneuropathy" EXACT []
synonym: "acute postinfectious polyneuropathy" EXACT []
synonym: "AIDP  POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, CHRONIC" NARROW []
synonym: "CIDP" NARROW []
synonym: "GBS" EXACT []
synonym: "Guillain-Barre Syndrome, Familial" EXACT []
synonym: "Guillain-Barré Syndrome" EXACT []
synonym: "Guillaine Barre Syndrome" EXACT []
synonym: "infectious neuronitis" EXACT []
synonym: "Inflammatory Polyneuropathy Acutes" EXACT []
synonym: "Landry Guillain Barre Syndrome" EXACT []
synonym: "post-infectious polyneuritis" EXACT []
synonym: "postinfectious polyneuritis" EXACT []
xref: EFO:0007292
xref: GARD:6554
xref: MESH:D020275
xref: NCI:C116345
is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system
is_a: DOID:225 ! syndrome
is_a: DOID:4308 ! polyradiculoneuropathy

[Term]
id: DOID:12849
name: autistic disorder
alt_id: MIM:209850
alt_id: MIM:300425
alt_id: MIM:300495
alt_id: MIM:300496
alt_id: MIM:300830
alt_id: MIM:300847
alt_id: MIM:300872
alt_id: MIM:607373
alt_id: MIM:608049
alt_id: MIM:608636
alt_id: MIM:609378
alt_id: MIM:610676
alt_id: MIM:610836
alt_id: MIM:610838
alt_id: MIM:610908
alt_id: MIM:611015
alt_id: MIM:611016
alt_id: MIM:612100
alt_id: MIM:613410
alt_id: MIM:613436
alt_id: MIM:615091
alt_id: MIM:618830
def: "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. (DO)" [http://en.wikipedia.org/wiki/Autism "DO", http://www.neurodevnet.ca "DO"]
synonym: "autism" EXACT []
synonym: "autism 1" NARROW []
synonym: "Autism-Speech Delay" RELATED []
synonym: "autism, susceptibility to, 10" RELATED []
synonym: "autism, susceptibility to, 11" RELATED []
synonym: "autism, susceptibility to, 12" RELATED []
synonym: "autism, susceptibility to, 13" RELATED []
synonym: "autism, susceptibility to, 15" RELATED []
synonym: "autism, susceptibility to, 16" RELATED []
synonym: "autism, susceptibility to, 17" RELATED []
synonym: "autism, susceptibility to,19" RELATED []
synonym: "autism, susceptibility to, 20" RELATED []
synonym: "autism, susceptibility to, 3" RELATED []
synonym: "autism, susceptibility to, 7" RELATED []
synonym: "autism, susceptibility to, 8" RELATED []
synonym: "autism, susceptibility to, 9" RELATED []
synonym: "Autism, Susceptibility to, X-Linked 1" RELATED []
synonym: "Autism, Susceptibility to, X-Linked 2" RELATED []
synonym: "Autism, Susceptibility to, X-Linked 3" RELATED []
synonym: "Autism, Susceptibility to, X-Linked 4" RELATED []
synonym: "Autism, Susceptibility to, X-Linked 5" RELATED []
synonym: "Autism, Susceptibility to, X-Linked 6" RELATED []
synonym: "AUTISM WITH OR WITHOUT SEIZURES" EXACT []
synonym: "autistic behavior" EXACT []
synonym: "AUTISTIC DISORDER AUTISM, SUSCEPTIBILITY TO, 1" RELATED []
synonym: "AUTISTIC DISORDER OF CHILDHOOD ONSET" EXACT []
synonym: "autistic disorders" EXACT []
synonym: "AUTS1" RELATED []
synonym: "AUTS10" RELATED []
synonym: "AUTS11" RELATED []
synonym: "AUTS12" RELATED []
synonym: "AUTS13" RELATED []
synonym: "AUTS15" RELATED []
synonym: "AUTS16" RELATED []
synonym: "AUTS17" RELATED []
synonym: "AUTS19" RELATED []
synonym: "AUTS2" RELATED []
synonym: "AUTS20" RELATED []
synonym: "AUTS2-RELATED CONDITION" BROAD []
synonym: "AUTS3" RELATED []
synonym: "AUTS4" RELATED []
synonym: "AUTS7" RELATED []
synonym: "AUTS8" RELATED []
synonym: "AUTS9" RELATED []
synonym: "AUTSX1" RELATED []
synonym: "AUTSX2" RELATED []
synonym: "AUTSX3" RELATED []
synonym: "AUTSX4" RELATED []
synonym: "AUTSX5" RELATED []
synonym: "AUTSX6" RELATED []
synonym: "CHD8-RELATED DISORDER" NARROW []
synonym: "CHD8-RELATED DISORDERS" NARROW []
synonym: "childhood autism" EXACT []
synonym: "CHROMOSOME 15q11.2 DUPLICATION SYNDROME" NARROW []
synonym: "CHROMOSOME 15q11-q13 DUPLICATION SYNDROME" EXACT []
synonym: "CHROMOSOME Xp22 DELETION SYNDROME" EXACT []
synonym: "DUPLICATION 15q11-q13 SYNDROME AUTISM, SUSCEPTIBILITY TO, 4" RELATED []
synonym: "early infantile autism" EXACT []
synonym: "epsilon-trimethyllysine hydroxylase deficiency" EXACT []
synonym: "infantile autism" EXACT []
synonym: "Kanner's syndrome" EXACT []
synonym: "Kanners syndrome" EXACT []
synonym: "Kanner syndrome" EXACT []
synonym: "NLGN1-RELATED CONDITION" EXACT []
synonym: "PTCHD1-RELATED CONDITION" EXACT []
synonym: "severe autism" NARROW []
synonym: "SLC9A9-RELATED CONDITION" NARROW []
synonym: "TMLHED" EXACT []
synonym: "X-linked mental retardation" NARROW []
xref: EFO:0003758
xref: ICD10CM:F84.0
xref: ICD9CM:299.0
xref: MESH:D001321
xref: MIM:PS209850
xref: NCI:C126692
xref: NCI:C97161
xref: ORDO:106
is_a: DOID:0060041 ! autism spectrum disorder

[Term]
id: DOID:1285
name: rectal disease
alt_id: RDO:0004869
def: "Pathological developments in the RECTUM region of the large intestine (INTESTINE, LARGE)." []
synonym: "anorectal disease" EXACT []
synonym: "Anorectal Diseases" EXACT []
synonym: "Anorectal Disorder" EXACT []
synonym: "Anorectal Disorders" EXACT []
synonym: "Rectal Diseases" EXACT []
synonym: "Rectal Disorder" EXACT []
synonym: "rectal disorders" EXACT []
xref: EFO:0009685
xref: MESH:D012002
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:12857
name: Achilles bursitis
synonym: "Achilles bursitis or tendinitis" EXACT []
synonym: "Capped hock" EXACT []
synonym: "Haglund's deformity" EXACT []
synonym: "Haglund's disease" EXACT []
xref: ICD10CM:M76.6
is_a: DOID:2965 ! bursitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:12858
name: Huntington's disease
alt_id: MIM:143100
def: "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. (DO)" [http://en.wikipedia.org/wiki/Huntington_disease "DO", http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple "DO"]
synonym: "akinetic rigid variant of Huntington disease" EXACT []
synonym: "HD" EXACT []
synonym: "Huntington's chorea" EXACT []
synonym: "Huntington chorea" EXACT []
synonym: "Huntington Chronic Progressive Hereditary Chorea" EXACT []
synonym: "Huntington disease" EXACT []
synonym: "Huntington Disease, Akinetic Rigid Variant" EXACT []
synonym: "juvenile Huntington disease" EXACT []
synonym: "juvenile onset Huntington disease" EXACT []
synonym: "late onset Huntington disease" EXACT []
xref: EFO:0000533
xref: GARD:6677
xref: ICD9CM:333.4
xref: MESH:D006816
xref: MONDO:0007739
xref: NCI:C147072
xref: NCI:C82342
is_a: DOID:12859 ! choreatic disease
is_a: DOID:1307 ! dementia
is_a: DOID:1561 ! cognitive disorder
is_a: DOID:679 ! basal ganglia disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:12859
name: choreatic disease
alt_id: MIM:118700
alt_id: OMIA:002084
def: "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. (DO)" [http://en.wikipedia.org/wiki/Chorea "DO", http://www.ncbi.nlm.nih.gov/mesh?term=Choreatic%20Disorders "DO"]
synonym: "BCH" EXACT []
synonym: "Benign Hereditary Chorea" EXACT []
synonym: "benign hereditary choreas" EXACT []
synonym: "BHC" EXACT []
synonym: "Chorea" EXACT []
synonym: "Chorea Disorder" EXACT []
synonym: "chorea disorders" EXACT []
synonym: "Choreas" EXACT []
synonym: "Chorea Syndrome" EXACT []
synonym: "Chorea Syndromes" EXACT []
synonym: "Choreatic Disorder" EXACT []
synonym: "Choreatic Disorders" EXACT []
synonym: "Choreatic Syndrome" EXACT []
synonym: "Choreatic Syndromes" EXACT []
synonym: "Choreic Movement" EXACT []
synonym: "Choreic Movements" EXACT []
synonym: "Choreiform Movement" EXACT []
synonym: "Choreiform Movements" EXACT []
synonym: "Chronic Progressive Chorea" EXACT []
synonym: "Chronic Progressive Choreas" EXACT []
synonym: "Hereditary Chorea" EXACT []
synonym: "Hereditary Choreas" EXACT []
synonym: "Hereditary Progressive Chorea Without Dementia" EXACT []
synonym: "Paroxysmal Dyskinesia" EXACT []
synonym: "Paroxysmal Dyskinesias" EXACT []
synonym: "Rheumatic Chorea" EXACT []
synonym: "Rheumatic Choreas" EXACT []
synonym: "Senile Chorea" EXACT []
synonym: "Senile Choreas" EXACT []
synonym: "St. Vitus's Dance" EXACT []
synonym: "St. Vitus's Dances" EXACT []
synonym: "St. Vitus Dance" EXACT []
synonym: "St. Vituss Dance" EXACT []
synonym: "Sydenham's chorea" EXACT []
synonym: "Sydenham chorea" EXACT []
synonym: "Sydenham choreas" EXACT []
synonym: "Sydenhams chorea" EXACT []
xref: EFO:0004152
xref: MESH:D002819
xref: ORDO:1429
is_a: DOID:480 ! movement disease
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:1287
name: cardiovascular system disease
def: "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. (DO)" [http://en.wikipedia.org/wiki/Circulatory_system "DO"]
subset: RGD_JBrowse_slim
synonym: "cardiovascular disease" EXACT []
synonym: "cardiovascular diseases" EXACT []
synonym: "disease of subdivision of hemolymphoid system" EXACT []
xref: EFO:0000319
xref: ICD9CM:429.2
xref: MESH:D002318
xref: NCI:C2931
is_a: DOID:7 ! disease of anatomical entity

[Term]
id: DOID:12883
name: hypochondriasis
def: "A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. (DO)" [http://en.wikipedia.org/wiki/Hypochondriasis "DO"]
synonym: "hypochondria" EXACT []
synonym: "hypochondriacal disorder" EXACT []
synonym: "hypochondriacal neuroses" EXACT []
synonym: "hypochondriacal neurosis" EXACT []
xref: ICD10CM:F45.21
xref: ICD9CM:300.7
xref: MESH:D006998
xref: NCI:C9493
is_a: DOID:4737 ! somatoform disorder

[Term]
id: DOID:12889
name: Miller Fisher syndrome
def: "A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. (DO)" [http://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification "DO"]
synonym: "Fisher's syndrome" EXACT []
synonym: "Fisher Syndrome" EXACT []
synonym: "Guillain Barre Syndrome, Miller Fisher Variant" EXACT []
synonym: "Miller Fisher variant of Guillain Barre syndrome" EXACT []
synonym: "ophthalmoplegia, ataxia and areflexia syndrome" EXACT []
xref: EFO:0007371
xref: GARD:3668
xref: ICD10CM:G61.0
xref: MESH:D019846
xref: NCI:C116958
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:12842 ! Guillain-Barre syndrome
is_a: DOID:2786 ! cerebellar disease

[Term]
id: DOID:1289
name: neurodegenerative disease
def: "A central nervous system disease that results in the progressive deterioration of function or structure of neurons. (DO)" [http://en.wikipedia.org/wiki/Degenerative_disease "DO", http://en.wikipedia.org/wiki/Neurodegeneration "DO"]
synonym: "central nervous system degenerative diseases" EXACT []
synonym: "degenerative disease" EXACT []
synonym: "Degenerative Neurologic Disease" EXACT []
synonym: "degenerative neurologic diseases" EXACT []
synonym: "Degenerative Neurologic Disorder" EXACT []
synonym: "degenerative neurologic disorders" EXACT []
synonym: "Nervous System Degenerative Diseases" EXACT []
synonym: "Neurodegenerative Diseases" EXACT []
synonym: "Neurodegenerative Disorder" EXACT []
synonym: "Neurodegenerative Disorders" EXACT []
synonym: "Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy" NARROW []
synonym: "neurologic degenerative condition" EXACT []
synonym: "neurologic degenerative conditions" EXACT []
synonym: "progressive neurodegenerative disease" NARROW []
synonym: "severe cystic degeneration of the brain" NARROW []
synonym: "spinal cord degenerative diseases" EXACT []
synonym: "subacute myelo-opticoneuropathy" NARROW []
synonym: "TMEM63B-ASSOCIATED DISORDER" BROAD []
xref: EFO:0005772
xref: EFO:0020919
xref: ICD10CM:G31.9
xref: MESH:D019636
xref: NCI:C27090
is_a: DOID:331 ! central nervous system disease
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:12894
name: Sjogren's syndrome
alt_id: MIM:270150
def: "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. (DO)" [http://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome "DO"]
synonym: "Sicca Syndrome" EXACT []
synonym: "Sjogrens Syndrome" EXACT []
synonym: "Sjogren Syndrome" EXACT []
synonym: "xerodermosteosis" EXACT []
xref: EFO:0000699
xref: GARD:10252
xref: ICD10CM:M35.0
xref: ICD9CM:710.2
xref: MESH:D012859
xref: NCI:C26883
xref: NCI:C70647
is_a: DOID:0060029 ! autoimmune disease of exocrine system
is_a: DOID:10140 ! dry eye syndrome
is_a: DOID:7148 ! rheumatoid arthritis
is_a: DOID:9006511 ! Xerostomia

[Term]
id: DOID:12895
name: keratoconjunctivitis sicca
def: "Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." [MESH:D007638]
synonym: "KCS" EXACT []
xref: EFO:1000906
xref: GARD:8444
xref: MESH:D007638
is_a: DOID:10140 ! dry eye syndrome
is_a: DOID:9368 ! keratoconjunctivitis

[Term]
id: DOID:12897
name: submandibular gland disease
def: "Diseases involving the SUBMANDIBULAR GLAND." [MESH:D013364]
synonym: "submandibular gland diseases" EXACT []
xref: MESH:D013364
xref: RDO:0006641
is_a: DOID:10854 ! salivary gland disease

[Term]
id: DOID:12899
name: benign lymphoepithelial lesion of salivary gland
synonym: "Godwin tumor" EXACT []
xref: NCI:C3949
xref: RDO:9004891
is_a: DOID:10854 ! salivary gland disease
is_a: DOID:9003216 ! Salivary Gland Neoplasms
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:12900
name: Mikulicz disease
def: "An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection. (DO)" [https://rarediseases.org/rare-diseases/mikulicz-syndrome/ "DO"]
synonym: "IgG4-related dacryoadenitis and sialadenitis" EXACT []
synonym: "Mikulicz's disease" EXACT []
xref: EFO:0000699
xref: GARD:7043
xref: ICD10CM:K11.8
xref: MESH:D008882
xref: NCI:C34819
is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat
is_a: DOID:10854 ! salivary gland disease
is_a: DOID:1400 ! lacrimal apparatus disease

[Term]
id: DOID:12901
name: necrotizing sialometaplasia
def: "A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." [MESH:D012797]
synonym: "Necrotizing Sialometaplasias" EXACT []
xref: EFO:1001057
xref: MESH:D012797
is_a: DOID:10854 ! salivary gland disease

[Term]
id: DOID:12904
name: mucocele of salivary gland
def: "A form of retention cyst of the floor of the mouth, usually due to obstruction of the ducts of the submaxillary or sublingual glands, presenting a slowly enlarging painless deep burrowing mucocele of one side of the mouth. It is also called sublingual cyst and sublingual ptyalocele." [MESH:D011900]
synonym: "mucous retention cyst of salivary gland" EXACT []
synonym: "ranula" EXACT []
synonym: "ranulas" EXACT []
synonym: "salivary cyst" EXACT []
synonym: "salivary gland mucocele" EXACT []
xref: ICD10CM:K11.6
xref: ICD9CM:527.6
xref: MESH:D011900
xref: NCI:C127828
xref: NCI:C27649
is_a: DOID:10854 ! salivary gland disease
is_a: DOID:9004508 ! Mucocele

[Term]
id: DOID:12905
name: sialolithiasis
def: "Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." [MESH:D015494]
synonym: "Salivary Gland Calculi" EXACT []
synonym: "Salivary Gland Calculus" EXACT []
synonym: "Salivary Gland Stone" EXACT []
synonym: "Salivary Gland Stones" EXACT []
synonym: "Sialolith" EXACT []
synonym: "Sialoliths" EXACT []
synonym: "stone of salivary gland or duct" EXACT []
xref: EFO:1001180
xref: ICD10CM:K11.5
xref: ICD9CM:527.5
xref: MESH:D015494
is_a: DOID:10854 ! salivary gland disease
is_a: DOID:9001730 ! Salivary Calculi

[Term]
id: DOID:12918
name: thromboangiitis obliterans
alt_id: MIM:211480
def: "A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." [MESH:D013919]
synonym: "Buerger's disease" EXACT []
synonym: "Buerger disease" EXACT []
synonym: "Buergers disease" EXACT []
synonym: "presenile gangrene" EXACT []
synonym: "thromboangitis obliterans" EXACT []
xref: EFO:1001211
xref: ICD10CM:I73.1
xref: ICD9CM:443.1
xref: MESH:D013919
xref: NCI:C35070
is_a: DOID:341 ! peripheral vascular disease
is_a: DOID:865 ! vasculitis
is_a: DOID:9006474 ! Arterial Occlusive Diseases

[Term]
id: DOID:12919
name: Plasmodium ovale malaria
def: "A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ovale%20malaria "DO"]
synonym: "Malariaby Plasmodium ovale" EXACT [MTHICD9_2006:084.3]
synonym: "Ovale malaria" EXACT [SNOMEDCT_2005_07_31:19341001]
xref: ICD10CM:B53.0
xref: ICD9CM:084.3
is_a: DOID:12365 ! malaria
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:12926
name: hypodermyiasis
def: "A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. (DO)" [http://en.wikipedia.org/wiki/Dermatobia_hominis "DO", http://en.wikipedia.org/wiki/Hypodermyiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm "DO"]
synonym: "hypodermyiases" EXACT []
xref: EFO:0007320
xref: GARD:2883
xref: MESH:D007000
is_a: DOID:11080 ! myiasis

[Term]
id: DOID:12927
name: screw worm infectious disease
def: "A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage. (DO)" [http://en.wikipedia.org/wiki/Chrysomya_bezziana "DO", http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm "DO"]
synonym: "screw worm infection" EXACT []
synonym: "screw worm infections" EXACT []
xref: EFO:0007479
xref: MESH:D012610
is_a: DOID:11080 ! myiasis

[Term]
id: DOID:12929
name: endocardial fibroelastosis
alt_id: MIM:226000
def: "An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. (DO)" [http://en.wikipedia.org/wiki/Endocardial_fibroelastosis "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract "DO"]
synonym: "elastomyofibrosis" EXACT []
synonym: "endocardial fibroelastoses" EXACT []
synonym: "endomyocardial fibroelastosis" EXACT []
xref: EFO:0007251
xref: GARD:2121
xref: GARD:6336
xref: ICD10CM:I42.4
xref: ICD9CM:425.3
xref: MESH:D004695
xref: NCI:C98922
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:0050825 ! endocardium disease

[Term]
id: DOID:1293
name: labia minora carcinoma
def: "A vulva carcinoma that is located_in the labia minora. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13733610 "DO"]
synonym: "carcinoma of labia minora" EXACT []
xref: NCI:C9364
is_a: DOID:1243 ! labia minora cancer
is_a: DOID:1294 ! vulva carcinoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:12930
name: dilated cardiomyopathy
def: "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. (DO)" [http://en.wikipedia.org/wiki/Dilated_cardiomyopathy "DO"]
synonym: "ANKRD1-related condition" RELATED []
synonym: "ANKRD1-related dilated cardiomyopathy" NARROW []
synonym: "autosomal dominant dilated cardiomyopathy" NARROW []
synonym: "congestive cardiomyopathies" EXACT []
synonym: "congestive cardiomyopathy" EXACT []
synonym: "dilated cardiomyopathies" EXACT []
synonym: "dilated cardiomyopathy, and heart failure" NARROW []
synonym: "dilated cardiomyopathy, autosomal recessive" NARROW []
synonym: "dilated cardiomyopathy, dominant" NARROW []
synonym: "dilated cardiomyopathy, recessive" NARROW []
synonym: "familial dilated cardiomyopathy" NARROW []
synonym: "familial idiopathic cardiomyopathies" NARROW []
synonym: "familial idiopathic cardiomyopathy" NARROW []
synonym: "fatal cardiomyopathy" NARROW []
synonym: "fatal cardiomyopathy, infantile" NARROW []
synonym: "FDC" NARROW []
synonym: "IDCM" NARROW []
synonym: "idiopathic dilated cardiomyopathies" EXACT []
synonym: "idiopathic dilated cardiomyopathy" NARROW []
synonym: "idiopathic dilation cardiomyopathy" NARROW []
synonym: "left ventricular noncompaction 4" NARROW []
synonym: "LVNC4" NARROW []
synonym: "NEONATAL CARDIOMYOPATHY" NARROW []
synonym: "primary dilated cardiomyopathy" NARROW []
xref: EFO:0000372
xref: EFO:0000407
xref: EFO:0009094
xref: EFO:0009142
xref: EFO:0010953
xref: GARD:221
xref: MESH:D002311
xref: MIM:PS115200
xref: NCI:C84673
xref: ORDO:217604
is_a: DOID:0060036 ! intrinsic cardiomyopathy
is_a: DOID:9003936 ! Cardiomegaly

[Term]
id: DOID:12932
name: endomyocardial fibrosis
def: "A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." [MESH:D004719]
synonym: "African endomyocardial fibrosis" EXACT []
synonym: "Becker's disease" EXACT []
synonym: "Endomyocardial Fibroses" EXACT []
synonym: "endomyocardial sclerosis" EXACT []
synonym: "obscure African cardiomyopathy" EXACT []
xref: EFO:1000921
xref: GARD:6340
xref: ICD9CM:425.0
xref: MESH:D004719
xref: NCI:C34585
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:397 ! restrictive cardiomyopathy

[Term]
id: DOID:12934
name: Kearns-Sayre syndrome
def: "A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)" [MESH:D007625]
synonym: "chronic progressive external ophthalmoplegia with myopathy" EXACT []
synonym: "CPEO with myopathies" EXACT []
synonym: "CPEO with Myopathy" EXACT []
synonym: "CPEO With Ragged-Red Fibers" EXACT []
synonym: "Kearn Sayre Mitochondrial Cytopathy" EXACT []
synonym: "Kearns-Sayre Mitochondrial Cytopathy" EXACT []
synonym: "Kearns Sayre Shy Daroff Syndrome" EXACT []
synonym: "Kearns Syndrome" EXACT []
synonym: "Kearn Syndrome" EXACT []
synonym: "KSS" EXACT []
synonym: "Oculocraniosomatic Syndrome" EXACT []
synonym: "oculocraniosomatic syndromes" EXACT []
synonym: "Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy" EXACT []
synonym: "ophthalmoplegia plus syndrome" EXACT []
synonym: "ophthalmoplegia plus syndromes" EXACT []
synonym: "progressive external ophthalmoplegia with ragged-red fibers" EXACT []
xref: GARD:6817
xref: ICD10CM:H49.81
xref: MESH:D007625
xref: MIM:530000
xref: MONDO:0010787
xref: NCI:C84798
xref: ORDO:480
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:12558 ! chronic progressive external ophthalmoplegia
is_a: DOID:225 ! syndrome
is_a: DOID:9003594 ! Mitochondrial Cytopathy

[Term]
id: DOID:12935
name: alcoholic cardiomyopathy
def: "Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." [MESH:D002310]
synonym: "alcohol-induced heart muscle disease" EXACT []
synonym: "dilated cardiomyopathy secondary to alcohol" EXACT []
xref: EFO:1000801
xref: ICD10CM:I42.6
xref: ICD9CM:425.5
xref: MESH:D002310
xref: NCI:C53653
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:3978 ! extrinsic cardiomyopathy
is_a: DOID:9004354 ! Alcohol-Related Disorders

[Term]
id: DOID:1294
name: vulva carcinoma
def: "A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://www.cancer.gov/cancertopics/types/vulvar "DO"]
synonym: "carcinoma of vulva" EXACT []
synonym: "vulvar carcinoma" EXACT []
xref: EFO:0002921
xref: NCI:C4866
is_a: DOID:1245 ! vulva cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:12958
name: paralytic lagophthalmos
xref: ICD10CM:H02.23
xref: ICD9CM:374.21
is_a: DOID:12959 ! lagophthalmos
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:12959
name: lagophthalmos
xref: ICD10CM:H02.2
xref: ICD9CM:374.2
xref: MESH:D000092164
is_a: DOID:530 ! eyelid disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:12960
name: acrocephalosyndactylia
alt_id: MIM:101200
def: "A synostosis that results_in craniosynostosis and syndactyly. (DO)" [http://en.wikipedia.org/wiki/Acrocephalosyndactylia "DO"]
synonym: "acrocephalosyndactylias" EXACT []
synonym: "Acrocephalosyndactylies, Type 1" EXACT []
synonym: "Acrocephalosyndactyly (Apert)" EXACT []
synonym: "Acrocephalosyndactyly, Type 1" EXACT []
synonym: "ACROCEPHALOSYNDACTYLY, TYPE II" NARROW []
synonym: "Acrocephaly, Skull Asymmetry, and Mild Syndactyly" EXACT []
synonym: "ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES" NARROW []
synonym: "ACS1" EXACT []
synonym: "ACS I APERT-CROUZON DISEASE" NARROW []
synonym: "ACS II" NARROW []
synonym: "Apert Crouzon Disease" EXACT []
synonym: "Apert Syndrome" EXACT []
synonym: "Craniofacial-Skeletal-Dermatologic Dysplasia" EXACT []
synonym: "Dysostosis Craniofacialis with Hypertelorism" EXACT []
synonym: "Kurczynski Casperson Syndrome" EXACT []
synonym: "Noack Syndrome" EXACT []
synonym: "Noack Syndromes" EXACT []
synonym: "Syndactylic Oxycephalies" EXACT []
synonym: "Syndactylic Oxycephaly" EXACT []
synonym: "Type I Acrocephalosyndactylies" EXACT []
synonym: "Type I Acrocephalosyndactyly" EXACT []
synonym: "Type II Acrocephalosyndactylies" EXACT []
synonym: "VOGT cephalodactyly" NARROW []
xref: EFO:0004123
xref: ICD9CM:755.55
xref: MESH:D000168
xref: MONDO:0019796
xref: NCI:C34348
xref: NCI:C99099
is_a: DOID:11193 ! syndactyly
is_a: DOID:11971 ! synostosis
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:12961
name: Poland syndrome
alt_id: MIM:173800
def: "A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25831684 "DO"]
synonym: "Poland's syndactyly" EXACT []
synonym: "Poland anomaly" EXACT []
synonym: "Poland sequence" EXACT []
synonym: "Poland syndactyly" EXACT []
xref: GARD:7412
xref: ICD10CM:Q79.8
xref: MESH:D011045
xref: NCI:C85017
is_a: DOID:0080015 ! physical disorder
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome

[Term]
id: DOID:12965
name: subleukemic leukemia
def: "A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal. (DO)" [http://medical-dictionary.thefreedictionary.com/subleukemic+leukemia "DO"]
is_a: DOID:1240 ! leukemia
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:12969
name: central nervous system leukemia
def: "A leukemia located_in the central nervous system. (DO)" [http://www.springerlink.com/content/gl61tx644217n938/ "DO"]
synonym: "leukemia of the CNS" EXACT []
xref: MONDO:0001606
xref: NCI:C5440
is_a: DOID:1240 ! leukemia
is_a: DOID:5772 ! central nervous system hematologic cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:12971
name: hereditary spherocytosis
alt_id: MESH:C536356
def: "A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. (DO)" [http://en.wikipedia.org/wiki/Hereditary_spherocytosis "DO", https://research.nhgri.nih.gov/RBCmembrane/ "DO"]
synonym: "acholuric jaundice" EXACT []
synonym: "chronic acholuric jaundice" EXACT []
synonym: "congenital hemolytic jaundice" EXACT []
synonym: "congenital spherocytic hemolytic anemia" EXACT []
synonym: "congenital spherocytosis" EXACT []
synonym: "Debrie's familial haemolytic disease" EXACT []
synonym: "dominant spherocytosis" NARROW []
synonym: "hereditary spherocytic hemolytic anemia" EXACT []
synonym: "hereditary spherocytoses" EXACT []
synonym: "HS" EXACT []
synonym: "Minkowski-Chauffard disease" EXACT []
synonym: "Minkowski-Chauffard-Gänsslen syndrome" EXACT []
synonym: "Minkowski-Chauffard haemolytic jaundice" EXACT []
synonym: "Minkowski Chauffard syndrome" EXACT []
synonym: "recessive spherocytosis" NARROW []
synonym: "spherocytic anemia" EXACT []
synonym: "SPHEROCYTOSIS" BROAD []
xref: EFO:0011064
xref: GARD:6639
xref: ICD10CM:D58.0
xref: ICD9CM:282.0
xref: MESH:D013103
xref: NCI:C97074
xref: ORDO:822
is_a: DOID:13603 ! obstructive jaundice
is_a: DOID:589 ! congenital hemolytic anemia

[Term]
id: DOID:12972
name: intrapelvic lymph node leukemic reticuloendotheliosis
synonym: "leukemic reticuloendotheliosis involving intrapelvic lymph nodes" EXACT []
synonym: "leukemic reticuloendotheliosis of intrapelvic lymph nodes" EXACT []
xref: ICD9CM:202.46
is_a: DOID:10619 ! lymph node cancer
is_a: DOID:285 ! hairy cell leukemia
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:12978
name: Plasmodium vivax malaria
alt_id: MIM:110700
def: "A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vivax+malaria "DO"]
synonym: "malaria by Plasmodium vivax" EXACT []
synonym: "resistance to Plasmodium vivax infection" RELATED []
synonym: "vivax malaria" EXACT []
xref: EFO:0007445
xref: ICD10CM:B51
xref: ICD9CM:084.1
xref: MESH:D016780
xref: NCI:C34800
is_a: DOID:12365 ! malaria

[Term]
id: DOID:12984
name: vagus nerve neoplasm
synonym: "neoplasm of vagus nerve" EXACT []
synonym: "vagus nerve tumors" EXACT []
xref: NCI:C5831
is_a: DOID:2815 ! cranial nerve malignant neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:12986
name: leukostasis
def: "Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs." [MESH:D018921]
synonym: "Leukostases" EXACT []
synonym: "Leukostasis Syndrome" EXACT []
synonym: "Leukostasis Syndromes" EXACT []
xref: EFO:1001016
xref: MESH:D018921
xref: MONDO:0006831
xref: NCI:C4062
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:12987
name: agranulocytosis
def: "A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood. (DO)" [https://en.wikipedia.org/wiki/Agranulocytosis "DO"]
synonym: "Agranulocytoses" EXACT []
synonym: "Granulocytopenia" EXACT []
synonym: "Granulocytopenias" EXACT []
synonym: "granulocytopenic disorder" EXACT []
synonym: "granulopenia" EXACT []
xref: MESH:D000380
xref: NCI:C2863
is_a: DOID:615 ! leukopenia

[Term]
id: DOID:12995
name: conduct disorder
def: "A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. (DO)" [http://en.wikipedia.org/wiki/Conduct_disorder "DO", http://www.nmha.org/go/conduct-disorder "DO"]
synonym: "behavior disorder" EXACT []
synonym: "conduct disorders" EXACT []
xref: EFO:0004216
xref: ICD10CM:F91
xref: ICD9CM:312.9
xref: MESH:D019955
xref: NCI:C89329
is_a: DOID:9009161 ! Attention Deficit and Disruptive Behavior Disorders

[Term]
id: DOID:12996
name: acute dacryocystitis
xref: ICD10CM:H04.32
xref: ICD9CM:375.32
xref: MONDO:0001610
is_a: DOID:9938 ! dacryocystitis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:12997
name: phlegmonous dacryocystitis
xref: ICD10CM:H04.31
xref: ICD9CM:375.33
xref: RDO:9003289
is_a: DOID:9938 ! dacryocystitis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:13001
name: carotid stenosis
alt_id: RDO:0007010
def: "Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3)" [MESH:D016893]
synonym: "Carotid Artery Narrowing" EXACT []
synonym: "Carotid Artery Narrowings" EXACT []
synonym: "Carotid Artery Plaque" EXACT []
synonym: "Carotid Artery Plaques" EXACT []
synonym: "Carotid Artery Stenoses" EXACT []
synonym: "Carotid Artery Stenosis" EXACT []
synonym: "Carotid Artery Ulcerating Plaque" EXACT []
synonym: "Carotid Occlusive Disease" EXACT []
synonym: "Carotid Stenoses" EXACT []
synonym: "Carotid Stenosis, Susceptibility To" RELATED []
synonym: "Carotid Ulcer" EXACT []
synonym: "Carotid Ulcers" EXACT []
synonym: "Common Carotid Artery Stenosis" EXACT []
synonym: "External Carotid Artery Stenosis" NARROW []
synonym: "Internal Carotid Artery Stenosis" NARROW []
xref: EFO:0002615
xref: MESH:D016893
xref: NCI:C95804
is_a: DOID:3407 ! carotid artery disease
is_a: DOID:9006474 ! Arterial Occlusive Diseases

[Term]
id: DOID:13002
name: subclavian steal syndrome
alt_id: RDO:0006634
def: "A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)" [MESH:D013349]
synonym: "basilar steal syndrome" EXACT []
synonym: "Basilar Steal Syndromes" EXACT []
synonym: "Brachial Basilar Insufficiency Syndrome" EXACT []
synonym: "Brachial-Basilar Insufficiency Syndromes" EXACT []
synonym: "Subclavian Artery Stenoses" EXACT []
synonym: "Subclavian Artery Stenosis" EXACT []
synonym: "Subclavian Carotid Artery Steal Syndrome" EXACT []
synonym: "Subclavian Steal" EXACT []
synonym: "Subclavian Steal Phenomenon" EXACT []
synonym: "subclavian steal steno-occlusive disease" EXACT []
synonym: "subclavian steal syndromes" EXACT []
xref: EFO:1001195
xref: ICD9CM:435.2
xref: MESH:D013349
xref: NCI:C35044
is_a: DOID:13003 ! vertebrobasilar insufficiency
is_a: DOID:225 ! syndrome

[Term]
id: DOID:13003
name: vertebrobasilar insufficiency
def: "Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." []
synonym: "vertebrobasilar arterial insufficiency" EXACT []
synonym: "Vertebrobasilar artery syndrome" EXACT []
synonym: "Vertebrobasilar Dolichoectasia" EXACT []
synonym: "vertebrobasilar dolichoectasias" EXACT []
synonym: "Vertebro-Basilar Insufficiencies" EXACT []
synonym: "Vertebrobasilar Insufficiencies" EXACT []
synonym: "Vertebro Basilar Insufficiency" EXACT []
synonym: "Vertebro Basilar Ischemia" EXACT []
synonym: "Vertebrobasilar Ischemia" EXACT []
synonym: "Vertebro-Basilar Ischemias" EXACT []
synonym: "vertebrobasilar ischemias" EXACT []
xref: EFO:1001449
xref: ICD10CM:G45.0
xref: ICD9CM:435.3
xref: MESH:D014715
is_a: DOID:13095 ! vertebral artery insufficiency
is_a: DOID:223 ! basilar artery insufficiency

[Term]
id: DOID:13005
name: intra-abdominal lymph node mast cell malignancy
synonym: "malignant mast cell tumors involving intra-abdominal lymph nodes" EXACT []
synonym: "mast cell malignancy of intra-abdominal lymph nodes" EXACT []
xref: ICD9CM:202.63
is_a: DOID:10619 ! lymph node cancer
is_a: DOID:3664 ! mast cell neoplasm

[Term]
id: DOID:13014
name: shipyard eye
synonym: "EKC" EXACT []
synonym: "Epidemic keratoconjunctivitis" EXACT []
xref: ICD10CM:B30.0
xref: ICD9CM:077.1
xref: NCI:C34590
is_a: DOID:9368 ! keratoconjunctivitis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:13025
name: retinopathy of prematurity
def: "A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" [MESH:D012178]
synonym: "premature retinopathy" EXACT [CSP2005:1114-9578]
synonym: "Prematurity Retinopathies" EXACT []
synonym: "Prematurity Retinopathy" EXACT []
synonym: "Retrolental Fibroplasia" EXACT []
synonym: "Retrolental Fibroplasias" EXACT []
xref: EFO:1001158
xref: GARD:5695
xref: ICD10CM:H35.1
xref: ICD9CM:362.21
xref: MESH:D012178
xref: NCI:C34982
xref: RDO:0006483
is_a: DOID:5679 ! retinal disease
is_a: DOID:9004676 ! Premature Infant Diseases

[Term]
id: DOID:13026
name: lobomycosis
def: "A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions. (DO)" [http://www.cdc.gov/EID/content/15/8/1301.htm "DO", http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Lobomycosis/index.html "DO"]
synonym: "Cutaneous blastomycosis" RELATED []
synonym: "cutaneous lobomycosis" EXACT []
synonym: "infection by Loboa loboi" EXACT []
synonym: "Jorge Lobo's Disease" EXACT []
synonym: "Jorge Lobo Disease" EXACT []
synonym: "Jorge Lobos Disease" EXACT []
synonym: "Keloidal Blastomycoses" EXACT []
synonym: "Keloidal Blastomycosis" EXACT []
synonym: "Lacazioses" EXACT []
synonym: "Lacaziosis" EXACT []
synonym: "Lobomycoses" EXACT []
xref: EFO:1001805
xref: ICD10CM:B48.0
xref: ICD9CM:116.2
xref: MESH:D060368
is_a: DOID:0050135 ! subcutaneous mycosis
is_a: DOID:1563 ! dermatomycosis

[Term]
id: DOID:13027
name: transient global amnesia
def: "An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. (DO)" [http://en.wikipedia.org/wiki/Transient_global_amnesia "DO"]
synonym: "TGA (transient global amnesia)" EXACT []
xref: GARD:8172
xref: ICD10CM:G45.4
xref: ICD9CM:437.7
xref: MESH:D020236
xref: NCI:C85198
is_a: DOID:10914 ! amnestic disorder
is_a: DOID:225 ! syndrome
is_a: DOID:936 ! brain disease

[Term]
id: DOID:13031
name: balanoposthitis
xref: ICD10CM:N47.6
xref: ICD9CM:607.1
xref: RDO:9003945
is_a: DOID:1529 ! penile disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:13033
name: balanitis
def: "Inflammation of the head of the PENIS, glans penis." [MESH:D001446]
synonym: "Balanitides" EXACT []
xref: EFO:1000833
xref: ICD10CM:N48.1
xref: MESH:D001446
xref: NCI:C26705
xref: RDO:0004971
is_a: DOID:1529 ! penile disease

[Term]
id: DOID:13034
name: relapsing fever
def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. (DO)" [http://www.cdc.gov/ncidod/dvbid/RelapsingFever/index.html "DO"]
synonym: "Relapsing Fevers" EXACT []
xref: ICD10CM:A68
xref: ICD9CM:087
xref: MESH:D012061
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9004477 ! Borrelia Infections

[Term]
id: DOID:13035
name: louse-borne relapsing fever
def: "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30869050 "DO"]
xref: ICD10CM:A68.0
xref: ICD9CM:087.0
xref: NCI:C128426
is_a: DOID:13034 ! relapsing fever

[Term]
id: DOID:13036
name: tick-borne relapsing fever
def: "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. (DO)" [http://en.wikipedia.org/wiki/Relapsing_fever "DO"]
synonym: "soft tick relapsing fever" EXACT []
xref: ICD10CM:A68.1
xref: ICD9CM:087.1
xref: NCI:C34976
is_a: DOID:13034 ! relapsing fever

[Term]
id: DOID:13037
name: mechanical lagophthalmos
xref: ICD10CM:H02.22
xref: ICD9CM:374.22
is_a: DOID:12959 ! lagophthalmos
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:13038
name: cicatricial lagophthalmos
xref: ICD10CM:H02.21
xref: ICD9CM:374.23
is_a: DOID:12959 ! lagophthalmos
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:13042
name: persistent fetal circulation syndrome
alt_id: MIM:265380
def: "A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." [MESH:D010547]
synonym: "ACD MPV" EXACT []
synonym: "ACDMPV" EXACT []
synonym: "alveolar capillary dysplasia" EXACT []
synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT []
synonym: "Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins And Other Congenital Anomalies" EXACT []
synonym: "Congenital alveolar capillary dysplasia" EXACT []
synonym: "congenital alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT []
synonym: "Familial Persistent Pulmonary Hypertension of the Newborn" EXACT []
synonym: "fetal circulation" EXACT []
synonym: "Misalignment of the Pulmonary Vessels" EXACT []
synonym: "Persistent Fetal Circulation" EXACT []
synonym: "persistent foetal circulation" EXACT []
synonym: "persistent foetal circulation syndrome" EXACT []
synonym: "persistent pulmonary hypertension of newborn" EXACT []
synonym: "persistent pulmonary hypertension of the newborn" EXACT []
xref: EFO:1001103
xref: ICD10CM:P29.3
xref: ICD10CM:P29.30
xref: ICD9CM:747.83
xref: MESH:C536590
xref: MESH:D010547
xref: NCI:C85006
xref: NCI:C98809
is_a: DOID:225 ! syndrome
is_a: DOID:6432 ! pulmonary hypertension
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:13046
name: acute sphenoidal sinusitis
def: "A sphenoid sinusitis which lasts for less than 4 weeks. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO"]
synonym: "Sphenoidal sinus -acute" EXACT [SNOMEDCT_2005_07_31:266378004]
xref: ICD10CM:J01.3
xref: ICD10CM:J01.30
xref: ICD9CM:461.3
xref: RDO:9003993
is_a: DOID:10794 ! sphenoid sinusitis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:13050
name: corpus luteum cyst
def: "An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release. (DO)" [https://www.mayoclinic.org/diseases-conditions/ovarian-cysts/multimedia/corpus-luteum-cyst/img-20007971 "DO"]
synonym: "corpus luteum cysts" EXACT []
xref: ICD9CM:620.1
is_a: DOID:5119 ! ovarian cyst
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:13060
name: traumatic glaucoma
def: "A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741166/ "DO"]
synonym: "glaucoma associated with ocular trauma" EXACT []
xref: ICD9CM:365.65
is_a: DOID:1686 ! glaucoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:13068
name: renal osteodystrophy
def: "Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders." [MESH:D012080]
synonym: "Chronic kidney disease-mineral and bone disorder" EXACT []
synonym: "CKD-MBD" EXACT []
synonym: "renal osteodystrophies" EXACT []
synonym: "renal rickets" EXACT []
xref: EFO:1001152
xref: ICD10CM:N25.0
xref: ICD9CM:588.0
xref: MESH:D012080
xref: NCI:C114827
is_a: DOID:10609 ! rickets
is_a: DOID:12466 ! secondary hyperparathyroidism
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:1307
name: dementia
def: "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm "DO"]
synonym: "Amentia" EXACT []
synonym: "amentias" EXACT []
synonym: "dementias" EXACT []
synonym: "Familial Dementia" EXACT []
synonym: "Familial Dementias" EXACT []
synonym: "senile paranoid dementia" EXACT []
synonym: "senile paranoid dementias" EXACT []
xref: EFO:0003862
xref: ICD9CM:290.8
xref: MESH:D003704
xref: MONDO:0001627
is_a: DOID:1561 ! cognitive disorder
is_a: DOID:9007801 ! Diseases of the Aged

[Term]
id: DOID:13072
name: acquired hyperkeratosis
def: "Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications." []
synonym: "acquired keratoderma" EXACT []
synonym: "acquired keratosis" EXACT []
xref: EFO:1000663
xref: ICD9CM:701.1
xref: NCI:C34746
is_a: DOID:161 ! keratosis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:13074
name: tinea unguium
def: "A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. (DO)" [http://en.wikipedia.org/wiki/Nail_disease "DO", http://en.wikipedia.org/wiki/Onychomycosis "DO"]
synonym: "cellulitis and abscess" RELATED []
synonym: "cellulitis and abscess of buttock" EXACT []
synonym: "cellulitis and abscess of face" EXACT []
synonym: "cellulitis and abscess of finger" EXACT []
synonym: "cellulitis and abscess of finger and toe" EXACT []
synonym: "cellulitis and abscess of gluteal region" EXACT []
synonym: "cellulitis and abscess of trunk" EXACT []
synonym: "cellulitis and abscess of upper arm and forearm" EXACT []
synonym: "dermatophytic onychia" EXACT []
synonym: "dermatophytic onychomycosis" EXACT []
synonym: "dermatophytosis of nail" EXACT []
synonym: "nail fungus" EXACT []
synonym: "Onychomycoses" EXACT []
synonym: "onychomycosis" EXACT []
synonym: "onychomycosis due to dermatophyte" EXACT []
xref: ICD9CM:681.9
xref: MESH:D014009
is_a: DOID:4123 ! nail disease
is_a: DOID:8913 ! dermatophytosis

[Term]
id: DOID:13078
name: eumycotic mycetoma
def: "A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules. (DO)" [http://en.wikipedia.org/wiki/Maduromycosis "DO", http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html "DO"]
synonym: "actinomycetoma" EXACT []
synonym: "actinomycetomas" EXACT []
synonym: "Eumycetoma" EXACT []
synonym: "Eumycetomas" EXACT []
synonym: "Madura Foot" EXACT []
synonym: "Maduromycoses" EXACT []
synonym: "Maduromycosis" EXACT []
synonym: "mycetoma" EXACT []
synonym: "mycetomas" EXACT []
synonym: "mycotic maduromycosis" EXACT []
synonym: "mycotic mycetoma" EXACT []
xref: EFO:0007265
xref: ICD10CM:B47
xref: MESH:D008271
xref: NCI:C85505
is_a: DOID:0050135 ! subcutaneous mycosis
is_a: DOID:1563 ! dermatomycosis
is_a: DOID:2312 ! nocardiosis
is_a: DOID:9003209 ! Bacterial Skin Diseases

[Term]
id: DOID:13080
name: Jaccoud's syndrome
def: "An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity. (DO)" [https://ard.bmj.com/content/57/9/540 "DO", https://radiopaedia.org/articles/jaccoud-arthropathy "DO"]
synonym: "Jaccoud syndrome" EXACT []
xref: ICD10CM:M12.0
xref: ICD9CM:714.4
is_a: DOID:225 ! syndrome
is_a: DOID:417 ! autoimmune disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:13081
name: hemangioma of subcutaneous tissue
synonym: "angioma of the subcutaneous tissue" EXACT []
synonym: "subcutaneous haemangioma" EXACT []
synonym: "subcutaneous hemangioma" EXACT []
xref: EFO:1000707
xref: NCI:C8540
xref: RDO:9004222
is_a: DOID:471 ! skin hemangioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:13087
name: Lown-Ganong-Levine syndrome
alt_id: MIM:108950
def: "A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. (DO)" [http://en.wikipedia.org/wiki/Lown-Ganong-Levine_syndrome "DO"]
synonym: "short PR, normal QRS complex syndrome" EXACT []
synonym: "syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias" EXACT []
xref: ICD10CM:I45.6
xref: ICD9CM:426.81
xref: MESH:D008151
xref: ORDO:844
is_a: DOID:9002491 ! Pre-Excitation Syndromes
is_a: DOID:9006770 ! Atrial Tachyarrhythmia with Short PR Interval

[Term]
id: DOID:13088
name: periventricular leukomalacia
def: "Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)" [MESH:D007969]
synonym: "Cystic Periventricular Leukomalacia" EXACT []
synonym: "cystic periventricular leukomalacias" EXACT []
synonym: "Neonatal Cerebral Leukomalacia" EXACT []
synonym: "Neonatal Cerebral Leukomalacias" EXACT []
synonym: "Periventricular Encephalomalacia" EXACT []
synonym: "Periventricular Encephalomalacias" EXACT []
synonym: "Periventricular Leucomalacia" EXACT []
synonym: "Periventricular Leucomalacias" EXACT []
synonym: "periventricular leukomalacias" EXACT []
xref: EFO:1001101
xref: GARD:10285
xref: ICD10CM:P91.2
xref: ICD9CM:779.7
xref: MESH:D007969
xref: NCI:C99013
is_a: DOID:2034 ! encephalomalacia
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9004676 ! Premature Infant Diseases

[Term]
id: DOID:13089
name: intracranial arterial disease
def: "Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." [MESH:D020765]
synonym: "Arterial Brain Disease" EXACT []
synonym: "Arterial Brain Diseases" EXACT []
synonym: "Arterial Brain Disorder" EXACT []
synonym: "Arterial Brain Disorders" EXACT []
synonym: "intracranial arterial diseases" EXACT []
synonym: "Intracranial Arterial Disorder" EXACT []
synonym: "Intracranial Arterial Disorders" EXACT []
xref: EFO:1000990
xref: MESH:D020765
xref: RDO:0005158
is_a: DOID:6713 ! cerebrovascular disease

[Term]
id: DOID:13094
name: branch retinal artery occlusion
synonym: "retinal arterial branch occlusion" EXACT []
xref: ICD10CM:H34.23
xref: ICD9CM:362.32
xref: NCI:C34436
is_a: DOID:8483 ! retinal artery occlusion
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13095
name: vertebral artery insufficiency
synonym: "vertebral artery insufficiencies" EXACT []
synonym: "vertebral artery ischemia" EXACT []
synonym: "vertebral artery ischemias" EXACT []
synonym: "vertebral artery stenoses" EXACT []
synonym: "vertebral artery stenosis" EXACT []
synonym: "vertebral artery syndrome" EXACT []
is_a: DOID:0050828 ! artery disease
is_a: DOID:224 ! transient cerebral ischemia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:13096
name: Sneddon syndrome
alt_id: MIM:182410
def: "An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25075847/ "DO"]
synonym: "DEFICIENCY OF ADENOSINE DEAMINASE 2" BROAD []
synonym: "Ehrmann-Sneddon syndrome" EXACT []
synonym: "idiopathic livedo reticularis with systemic involvement" EXACT []
synonym: "livedo racemosa-cerebrovascular accident syndrome" EXACT []
synonym: "livedo reticularis and cerebrovascular accidents" EXACT []
synonym: "livedo reticularis, systemic involvement" EXACT []
synonym: "SNDNS" EXACT []
synonym: "Sneddon Champion syndrome" EXACT []
xref: EFO:1001186
xref: GARD:7664
xref: MESH:D018860
xref: MONDO:0008436
xref: ORDO:820
is_a: DOID:0050828 ! artery disease
is_a: DOID:225 ! syndrome
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:13097
name: intracranial arteriosclerosis
alt_id: RDO:0005160
def: "Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS." [MESH:D002537]
synonym: "Cerebral Arterioscleroses" EXACT []
synonym: "Cerebral Arteriosclerosis" EXACT []
synonym: "Intracranial Arterioscleroses" EXACT []
synonym: "intracranial atheroscleroses" EXACT []
synonym: "intracranial atherosclerosis" EXACT []
xref: MESH:D002537
is_a: DOID:13089 ! intracranial arterial disease
is_a: DOID:2349 ! arteriosclerosis

[Term]
id: DOID:13098
name: central retinal artery occlusion
def: "A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. (DO)" [http://en.wikipedia.org/wiki/Central_retinal_artery_occlusion "DO"]
xref: ICD10CM:H34.1
xref: ICD9CM:362.31
xref: NCI:C34456
xref: RDO:9002782
is_a: DOID:8483 ! retinal artery occlusion
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13099
name: Moyamoya disease
def: "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. (DO)" [http://en.wikipedia.org/wiki/Moyamoya_disease "DO", http://rarediseases.info.nih.gov/gard/7064/moyamoya-disease/resources/1 "DO"]
synonym: "cerebrovascular Moyamoya disease" EXACT []
synonym: "classic Moyamoya disease" EXACT []
synonym: "Moya Moya disease" EXACT []
synonym: "Moyamoya syndrome" EXACT []
synonym: "MYMY" EXACT []
synonym: "primary Moyamoya disease" EXACT []
synonym: "primary Moyamoya diseases" EXACT []
synonym: "progressive intracranial arterial occlusion" EXACT []
synonym: "progressive intracranial occlusive arteropathy (Moyamoya)" EXACT []
synonym: "secondary Moyamoya disease" EXACT []
xref: EFO:0004250
xref: GARD:7064
xref: ICD10CM:I67.5
xref: ICD9CM:437.5
xref: MESH:D009072
xref: MIM:PS252350
xref: MONDO:0016820
xref: NCI:C84895
xref: ORDO:2573
xref: ORDO:280679
xref: ORDO:401945
is_a: DOID:3407 ! carotid artery disease
is_a: DOID:3527 ! cerebral arterial disease
is_a: DOID:9006474 ! Arterial Occlusive Diseases

[Term]
id: DOID:13100
name: intracranial vasospasm
def: "Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)." [MESH:D020301]
synonym: "Cerebral Angiospasm" EXACT []
synonym: "cerebral angiospasms" EXACT []
synonym: "Cerebral Artery Spasm" EXACT []
synonym: "Cerebral Artery Spasms" EXACT []
synonym: "Cerebral Vasospasm" EXACT []
synonym: "Cerebral Vasospasms" EXACT []
synonym: "Cerebrovascular Spasm" EXACT []
synonym: "Cerebrovascular Spasms" EXACT []
synonym: "Intracranial Angiospasm" EXACT []
synonym: "Intracranial Angiospasms" EXACT []
synonym: "Intracranial Vascular Spasm" EXACT []
synonym: "Intracranial Vascular Spasms" EXACT []
synonym: "intracranial vasospasms" EXACT []
xref: EFO:1000994
xref: MESH:D020301
is_a: DOID:6713 ! cerebrovascular disease

[Term]
id: DOID:13109
name: bladder leiomyoma
def: "A bladder benign neoplasm that derives_from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532898/ "DO"]
synonym: "leiomyoma of the urinary bladder" EXACT []
xref: NCI:C6178
xref: RDO:9003328
is_a: DOID:0050623 ! bladder benign neoplasm
is_a: DOID:127 ! leiomyoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:13110
name: bladder squamous papilloma
xref: NCI:C39834
xref: RDO:9005052
is_a: DOID:0050623 ! bladder benign neoplasm
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:13112
name: mechanical entropion
xref: ICD9CM:374.02
is_a: DOID:12397 ! entropion

[Term]
id: DOID:13113
name: cicatricial entropion
xref: ICD9CM:374.04
is_a: DOID:12397 ! entropion

[Term]
id: DOID:13117
name: paronychia
def: "A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. (DO)" [http://en.wikipedia.org/wiki/Paronychia "DO"]
synonym: "fungal nail infection" EXACT []
synonym: "infected nailfold" EXACT []
synonym: "Onychia and paronychia of finger" EXACT []
synonym: "Onychia and paronychia of toe" EXACT []
synonym: "paronychia inflammation" RELATED []
synonym: "Paronychias" EXACT []
xref: EFO:0007421
xref: ICD10CM:L03.0
xref: MESH:D010304
xref: NCI:C79702
is_a: DOID:4123 ! nail disease
is_a: DOID:9000859 ! Infectious Skin Diseases

[Term]
id: DOID:1312
name: focal segmental glomerulosclerosis
def: "A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE." [MESH:D005923]
synonym: "FGS" EXACT []
synonym: "focal glomerular sclerosis" EXACT []
synonym: "Focal Glomerulosclerosis" EXACT []
synonym: "Focal Sclerosing Glomerulonephritides" EXACT []
synonym: "Focal Sclerosing Glomerulonephritis" EXACT []
synonym: "FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY" NARROW []
synonym: "FSGS" EXACT []
synonym: "Segmental Glomerular Hyalinosis" EXACT []
synonym: "Segmental Hyalinosis" EXACT []
xref: EFO:0004236
xref: GARD:6517
xref: MESH:D005923
xref: MIM:PS603278
xref: NCI:C37308
is_a: DOID:0050851 ! glomerulosclerosis

[Term]
id: DOID:13120
name: protein-deficiency anemia
alt_id: DOID:13121
def: "A nutritional deficiency disease that is characterized by inadequate protein intake. (DO)" [https://link.springer.com/chapter/10.1007/978-1-4615-7308-1_21 "DO"]
synonym: "anemia due to protein deficiency" EXACT []
synonym: "deficiency anemia" EXACT []
synonym: "deficiency anemias" EXACT []
synonym: "protein-deficiency anaemia" EXACT []
xref: ICD10CM:D53.0
xref: ICD9CM:281.4
xref: MONDO:0001638
is_a: DOID:2355 ! anemia
is_a: DOID:9004989 ! Protein Deficiency
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:13127
name: gonococcal spondylitis
xref: ICD9CM:098.53
is_a: DOID:6590 ! spondylitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:13129
name: severe pre-eclampsia
def: "A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25373431 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28793357 "DO"]
synonym: "antepartum severe pre-eclampsia" EXACT []
synonym: "postpartum severe pre-eclampsia" EXACT []
synonym: "severe preeclampsia" EXACT []
synonym: "severe pre-eclampsia, with delivery" EXACT []
xref: ICD9CM:642.50
is_a: DOID:10591 ! pre-eclampsia
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:13133
name: HELLP syndrome
def: "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24400024 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25879992 "DO"]
synonym: "hemolysis, elevated liver enzymes, lowered platelets" EXACT []
xref: EFO:0007297
xref: GARD:8528
xref: ICD10CM:O14.2
xref: MESH:D017359
xref: NCI:C84750
is_a: DOID:13129 ! severe pre-eclampsia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:13134
name: hordeolum externum
def: "A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. (DO)" [http://en.wikipedia.org/wiki/Stye "DO"]
synonym: "external stye" EXACT []
xref: ICD10CM:H00.01
xref: ICD9CM:373.11
is_a: DOID:9423 ! blepharitis
is_a: DOID:9909 ! hordeolum
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13135
name: exophthalmic ophthalmoplegia
xref: ICD9CM:376.22
xref: RDO:9003017
is_a: DOID:12359 ! endocrine exophthalmos
is_a: DOID:539 ! ophthalmoplegia
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:13137
name: Werdnig-Hoffmann disease
def: "A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/?term=10700541 "DO"]
synonym: "acute spinal muscular atrophy" EXACT []
synonym: "hereditary motor neuropathy proximal type I" EXACT []
synonym: "HMN (hereditary motor neuropathy) proximal type I" EXACT []
synonym: "infantile muscular atrophy" EXACT []
synonym: "infantile spinal muscular atrophy" EXACT []
synonym: "progressive muscular atrophy of infancy" EXACT []
synonym: "SMA1" EXACT []
synonym: "SMA I" EXACT []
synonym: "SMA, infantile acute form" EXACT []
synonym: "spinal muscular atrophy type 1" EXACT []
synonym: "spinal muscular atrophy type I" EXACT []
synonym: "Werdnig-Hoffman disease" EXACT []
xref: GARD:7883
xref: ICD10CM:G12.0
xref: ICD9CM:335.0
xref: MIM:253300
xref: MONDO:0009669
xref: NCI:C98670
is_a: DOID:0060160 ! childhood spinal muscular atrophy
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:13138
name: acute proliferative glomerulonephritis
synonym: "acute glomerulonephritis with lesion of proliferative glomerulonephritis" EXACT []
xref: ICD9CM:580.0
is_a: DOID:2921 ! glomerulonephritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:13139
name: crescentic glomerulonephritis
def: "A syndrome of the kidney that is characterized by a rapid loss of renal function involving severe injury to the kidneys' glomeruli, with many of the glomeruli containing characteristic glomerular crescents (crescent-shaped scars)." []
synonym: "NCGN" RELATED []
synonym: "necrotizing crescentic glomerulonephritis" RELATED []
synonym: "RPGN" EXACT []
xref: NCI:C128143
xref: NCI:C35444
is_a: DOID:13138 ! acute proliferative glomerulonephritis
is_a: DOID:225 ! syndrome
is_a: DOID:4776 ! rapidly progressive glomerulonephritis

[Term]
id: DOID:13140
name: suppurative uveitis
def: "A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically. (DO)" [https://www.djo.org.in/articles/26/4/uveitis-classification1.html "DO", https://www.slideshare.net/Jihajie/uveitis-56740528 "DO"]
synonym: "suppurative uveitides" EXACT []
xref: EFO:1001203
xref: MESH:D015829
is_a: DOID:13141 ! uveitis
is_a: DOID:4692 ! endophthalmitis
is_a: DOID:9001949 ! Fungal Eye Infections
is_a: DOID:9005473 ! Bacterial Eye Infections
is_a: DOID:9005889 ! Suppuration

[Term]
id: DOID:13141
name: uveitis
def: "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. (DO)" [https://www.mayoclinic.org/diseases-conditions/uveitis/symptoms-causes/syc-20378734 "DO"]
synonym: "uveitides" EXACT []
xref: EFO:1001231
xref: ICD10CM:H20.9
xref: MESH:D014605
xref: NCI:C26909
is_a: DOID:3480 ! uveal disease

[Term]
id: DOID:13143
name: benign secondary hypertension
xref: ICD9CM:405.1
xref: NCI:C3658
xref: RDO:9001820
is_a: DOID:11130 ! secondary hypertension
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:13145
name: benign renovascular hypertension
def: "A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis. (DO)" [https://medlineplus.gov/ency/article/000204.htm "DO"]
xref: ICD9CM:405.11
xref: RDO:9003036
is_a: DOID:1073 ! renal hypertension
is_a: DOID:13143 ! benign secondary hypertension
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:13146
name: esophageal candidiasis
def: "A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. (DO)" [http://en.wikipedia.org/wiki/Esophageal_candidiasis "DO"]
synonym: "candida esophagitis" EXACT []
synonym: "candidal esophagitis" EXACT []
synonym: "candidiasis of the esophagus" EXACT []
synonym: "esophageal moniliasis" EXACT []
synonym: "esophageal thrush" EXACT []
xref: ICD10CM:B37.81
xref: ICD9CM:112.84
xref: NCI:C27027
is_a: DOID:1508 ! candidiasis
is_a: DOID:6050 ! esophageal disease
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:13147
name: fungal esophagitis
xref: MONDO:0001649
xref: NCI:C27107
is_a: DOID:11963 ! esophagitis
is_a: DOID:1564 ! fungal infectious disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13148
name: acute cystitis
def: "A cystitis characterized by a sudden onset or severe symptoms. (DO)" [http://en.wikipedia.org/wiki/Urinary_tract_infection "DO"]
xref: ICD10CM:N30.0
xref: ICD9CM:595.0
xref: NCI:C26934
is_a: DOID:1679 ! cystitis
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:13159
name: scrotum squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the scrotum. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26113906 "DO"]
synonym: "scrotal squamous cell carcinoma" EXACT []
synonym: "squamous cell carcinoma of scrotum" EXACT []
xref: NCI:C4643
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:3445 ! scrotal carcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:13160
name: scrotum melanoma
synonym: "melanoma of scrotum" EXACT []
xref: NCI:C7361
xref: RDO:9001847
is_a: DOID:1909 ! melanoma
is_a: DOID:518 ! scrotum neoplasm
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:13166
name: allergic bronchopulmonary aspergillosis
alt_id: MIM:103920
def: "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever. (DO)" [http://www.merck.com/mmhe/sec04/ch051/ch051d.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000070.htm "DO"]
synonym: "allergic bronchopulmonary aspergilloses" EXACT []
synonym: "pulmonary aspergillus disease" EXACT []
xref: EFO:0007140
xref: GARD:602
xref: ICD10CM:B44.81
xref: ICD9CM:518.6
xref: MESH:D001229
xref: NCI:C84547
is_a: DOID:0050073 ! invasive aspergillosis
is_a: DOID:0060496 ! respiratory allergy

[Term]
id: DOID:13168
name: prepuce cancer
synonym: "malignant neoplasm of foreskin" EXACT []
synonym: "malignant tumor of foreskin" EXACT []
xref: ICD10CM:C60.0
xref: ICD9CM:187.1
is_a: DOID:11615 ! penile cancer
is_a: DOID:4159 ! skin cancer
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:13169
name: spermatic cord cancer
def: "malignant tumor of spermatic cord" []
synonym: "malignant tumor of spermatic cord" EXACT [SNOMEDCT_2005_07_31:363453008]
synonym: "malignant tumor of the Spermatic Cord" EXACT [NCI2004_11_17:C3559]
synonym: "Spermatic cord Ca" EXACT []
xref: ICD10CM:C63.1
xref: ICD9CM:187.6
xref: NCI:C3559
is_a: DOID:3856 ! male reproductive organ cancer

[Term]
id: DOID:13174
name: dissociated nystagmus
xref: ICD10CM:H55.04
xref: ICD9CM:379.55
is_a: DOID:9650 ! pathologic nystagmus
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:13185
name: esophageal diverticulosis
def: "A pathological condition characterized by the presence of a number of ESOPHAGEAL DIVERTICULA in the ESOPHAGUS." [MESH:D045723]
xref: EFO:1000930
xref: MESH:D045723
xref: RDO:0007516
is_a: DOID:6050 ! esophageal disease

[Term]
id: DOID:13186
name: megaesophagus
xref: MONDO:0001656
xref: NCI:C34811
is_a: DOID:6050 ! esophageal disease
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:13189
name: gout
alt_id: MIM:138900
alt_id: MIM:612671
def: "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. (DO)" [http://en.wikipedia.org/wiki/Gout "DO", http://www.mayoclinic.com/health/gout/DS00090 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000422.htm "DO"]
synonym: "articular gout" EXACT []
synonym: "GOUT1" RELATED []
synonym: "GOUT4" RELATED []
synonym: "Gouts" EXACT []
synonym: "GOUT SUSCEPTIBILITY 1" RELATED []
synonym: "GOUT SUSCEPTIBILITY 4" RELATED []
synonym: "gouty arthropathy" RELATED []
synonym: "renal overload-type gout" NARROW []
synonym: "Urate-Binding Globulin, Decrease in" RELATED []
xref: DOID:9006213
xref: EFO:0004274
xref: EFO:0021525
xref: ICD10CM:M10
xref: ICD9CM:274
xref: ICD9CM:274.0
xref: MESH:C566013
xref: MESH:D006073
xref: MIM:191530
xref: NCI:C34650
is_a: DOID:653 ! purine-pyrimidine metabolic disorder
is_a: DOID:848 ! arthritis
is_a: DOID:9005593 ! Crystal Arthropathies

[Term]
id: DOID:1319
name: brain cancer
def: "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. (DO)" [http://www.cancer.gov/dictionary?CdrID=387264 "DO"]
synonym: "adult brain tumor" EXACT []
synonym: "adult malignant brain neoplasm" EXACT []
synonym: "brain cancers" EXACT []
synonym: "brain neoplasm, adult" EXACT []
synonym: "BT - brain tumour" EXACT []
synonym: "cancer of brain" EXACT []
synonym: "malignant brain tumour" EXACT []
synonym: "malignant primary brain neoplasm" EXACT []
synonym: "malignant primary brain tumor" EXACT []
synonym: "malignant tumor of adult brain" EXACT []
synonym: "malignant tumor of brain" EXACT []
synonym: "primary malignant neoplasm of brain" EXACT []
synonym: "tumor of the brain" EXACT []
xref: EFO:0003833
xref: ICD10CM:C71
xref: ICD9CM:191
xref: ICD9CM:239.6
xref: NCI:C170814
xref: NCI:C2907
xref: NCI:C3568
xref: NCI:C5115
xref: NCI:C7710
is_a: DOID:3620 ! central nervous system cancer
is_a: DOID:9007502 ! Brain Neoplasms
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13195
name: nontoxic goiter
synonym: "Nodule-thyroid, non tox" EXACT []
synonym: "non-toxic goiter" EXACT []
synonym: "non-toxic goitre" EXACT []
synonym: "non-toxic simple goitre" EXACT []
xref: ICD10CM:E04.9
xref: NCI:C35271
is_a: DOID:12176 ! goiter
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:13196
name: lingual goiter
def: "Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms." [MESH:D047268]
synonym: "lingual goiters" EXACT []
xref: EFO:1001018
xref: MESH:D047268
is_a: DOID:12176 ! goiter
is_a: DOID:9000704 ! Lingual Thyroids

[Term]
id: DOID:13197
name: nodular goiter
alt_id: RDO:0001381
def: "An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS." [MESH:D006044]
synonym: "Nodular Goiters" EXACT []
synonym: "nodular goitre" EXACT []
xref: EFO:1001062
xref: MESH:D006044
xref: NCI:C131437
is_a: DOID:12176 ! goiter

[Term]
id: DOID:13198
name: endemic goiter
def: "A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency. (DO)" [https://medicalguidelines.msf.org/viewport/CG/english/endemic-goitre-and-iodine-deficiency-18482487.html "DO"]
synonym: "endemic goiters" EXACT []
synonym: "Iodine-deficiency-related endemic goitre" EXACT []
synonym: "simple goitre" EXACT []
xref: EFO:1000916
xref: ICD10CM:E01.2
xref: ICD9CM:240.0
xref: MESH:D006043
xref: NCI:C35023
is_a: DOID:12176 ! goiter
is_a: DOID:5113 ! nutritional deficiency disease

[Term]
id: DOID:13200
name: substernal goiter
def: "An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms." [MESH:D006045]
synonym: "Intrathoracic Goiter" EXACT []
synonym: "Intrathoracic Goiters" EXACT []
synonym: "retrosternal thyroid goiter" EXACT []
synonym: "Retrosternal thyroid goitre" EXACT []
synonym: "Substernal Goiters" EXACT []
synonym: "substernal goitre" EXACT []
xref: EFO:1001198
xref: MESH:D006045
is_a: DOID:12176 ! goiter

[Term]
id: DOID:13206
name: nodular prostate
xref: ICD10CM:N40
xref: ICD9CM:600.1
is_a: DOID:11132 ! prostatic hypertrophy
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:13207
name: proliferative diabetic retinopathy
def: "This advanced, severe stage of diabetic retinopathy mainly occurs when many of the blood vessels in the retina close, preventing sufficient blood flow. In an attempt to supply blood to the area where the original vessels closed, the retina responds by growing new blood vessels, which is called neovascularization." []
synonym: "High risk PDR" EXACT []
synonym: "High risk proliferative diabetic retinopathy" EXACT []
synonym: "High risk proliferative retinopathy" EXACT []
synonym: "PDR" EXACT []
xref: EFO:0009322
xref: ICD9CM:362.02
xref: MONDO:0001660
xref: NCI:C84457
is_a: DOID:8947 ! diabetic retinopathy

[Term]
id: DOID:13208
name: background diabetic retinopathy
def: "This is the earliest stage of diabetic retinopathy, which involves damaged blood vessels in the retina beginning to leak extra fluid and small amounts of blood into the eye." []
synonym: "BDR" EXACT []
synonym: "Non proliferative diabetic retinopathy" EXACT []
synonym: "nonproliferative diabetic retinopathy" EXACT []
synonym: "NPDR" EXACT []
xref: EFO:0009760
xref: ICD9CM:362.03
xref: NCI:C35668
xref: RDO:9000105
is_a: DOID:8947 ! diabetic retinopathy

[Term]
id: DOID:13209
name: right bundle branch block
synonym: "right bundle branch blocks" EXACT []
synonym: "right bundle branch block with left posterior fascicular block" EXACT []
xref: ICD9CM:426.51
is_a: DOID:10273 ! heart conduction disease
is_a: DOID:9003912 ! Bundle-Branch Block

[Term]
id: DOID:13214
name: hole retinal cyst
synonym: "Macular cyst, hole, or pseudohole of retina" EXACT []
synonym: "Macular cyst or hole" EXACT []
synonym: "Macular pseudohole retinal cyst" EXACT []
xref: ICD10CM:H35.34
xref: ICD9CM:362.54
is_a: DOID:2007 ! degeneration of macula and posterior pole
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:13222
name: submucous uterine fibroid
def: "An uterine fibroid that is located adjacent to the lining of the uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25177608 "DO"]
synonym: "submucous leiomyoma of uterus" EXACT []
xref: ICD10CM:D25.0
xref: ICD9CM:218.0
is_a: DOID:13223 ! uterine fibroid
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13223
name: uterine fibroid
def: "An uterine benign neoplasm derived from the smooth muscle layer of the uterus. (DO)" [http://en.wikipedia.org/wiki/Uterine_fibroid "DO", http://www.nlm.nih.gov/medlineplus/uterinefibroids.html "DO"]
synonym: "leiomyoma of corpus uteri" EXACT []
synonym: "plexiform leiomyoma" EXACT []
synonym: "UL" EXACT []
synonym: "uterine fibroids" EXACT []
synonym: "uterine leiomyoma" EXACT []
synonym: "uterus fibroma" EXACT []
xref: EFO:0000731
xref: ICD10CM:D25
xref: ICD9CM:218
xref: MIM:150699
xref: NCI:C3434
is_a: DOID:0050871 ! fibroma
is_a: DOID:0060095 ! uterine benign neoplasm
is_a: DOID:127 ! leiomyoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13226
name: oculoglandular tularemia
def: "A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. (DO)" [http://www.cdc.gov/tularemia/signssymptoms/ "DO"]
xref: ICD10CM:A21.1
xref: ICD9CM:021.3
is_a: DOID:2123 ! tularemia
is_a: DOID:75 ! lymphatic system disease
is_a: DOID:9008201 ! Eye Infections
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:13227
name: retinal dystrophies primarily involving Bruch's membrane
synonym: "retinal dystrophies primarily involving Bruch membrane" EXACT []
xref: ICD9CM:362.77
xref: RDO:9002923
is_a: DOID:8501 ! fundus dystrophy
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:13238
name: Haverhill fever
def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain. (DO)" [https://en.wikipedia.org/wiki/Haverhill_fever "DO"]
synonym: "streptobacillary fever" EXACT []
synonym: "Streptobacillary rat-bite fever" RELATED []
synonym: "Streptobacillosis" RELATED []
xref: ICD10CM:A25.1
xref: ICD9CM:026.1
is_a: DOID:0050338 ! primary bacterial infectious disease
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:13239
name: internal pathological resorption
xref: ICD9CM:521.41
is_a: DOID:13240 ! tooth resorption

[Term]
id: DOID:1324
name: lung cancer
alt_id: MIM:211980
alt_id: MIM:608935
alt_id: MIM:612052
alt_id: MIM:612571
alt_id: MIM:612593
alt_id: MIM:614210
def: "A respiratory system cancer that is located_in the lung. (DO)" [http://en.wikipedia.org/wiki/Lung_cancer "DO"]
synonym: "adenocarcinoma of lung" NARROW []
synonym: "Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic" RELATED []
synonym: "ADENOCARCINOMA OF LUNG, SUSCEPTIBILITY TO" RELATED []
synonym: "cancer of lung" EXACT []
synonym: "cancer of the lung" EXACT []
synonym: "CHRNA3-RELATED CONDITION" BROAD []
synonym: "EGFR-RELATED CONDITION" BROAD []
synonym: "EGFR-RELATED LUNG CANCER" NARROW []
synonym: "LNCR1" RELATED []
synonym: "LNCR2" RELATED []
synonym: "LNCR3" RELATED []
synonym: "LNCR4" RELATED []
synonym: "LNCR5" RELATED []
synonym: "LUNG CANCER, PROTECTION AGAINST" RELATED []
synonym: "LUNG CANCER, PROTECTION AGAINST, IN SMOKERS" RELATED []
synonym: "lung cancers" EXACT []
synonym: "lung cancer, somatic" NARROW []
synonym: "lung cancer susceptibility 1" RELATED []
synonym: "lung cancer susceptibility 2" RELATED []
synonym: "lung cancer susceptibility 3" RELATED []
synonym: "lung cancer susceptibility 4" RELATED []
synonym: "lung cancer susceptibility 5" RELATED []
synonym: "lung cancer, susceptibility to" RELATED []
synonym: "nicotine dependence, susceptibility to" RELATED []
synonym: "pulmonary cancer" EXACT []
synonym: "pulmonary cancers" EXACT []
xref: ICD10CM:C34.1
xref: ICD10CM:C34.2
xref: ICD10CM:C34.3
xref: ICD9CM:162.3
xref: ICD9CM:162.4
xref: ICD9CM:162.5
xref: ICD9CM:162.8
xref: MONDO:0008903
is_a: DOID:0050615 ! respiratory system cancer
is_a: DOID:9005172 ! Lung Neoplasms
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:13240
name: tooth resorption
def: "Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)" []
synonym: "tooth resorptions" EXACT []
xref: ICD9CM:521.4
xref: MESH:D014091
is_a: DOID:1091 ! tooth disease
is_a: DOID:214 ! teeth hard tissue disease

[Term]
id: DOID:13241
name: Behcet's disease
alt_id: MIM:109650
def: "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. (DO)" [http://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease "DO", http://www.nlm.nih.gov/medlineplus/behcetssyndrome.html "DO"]
synonym: "Adamantiades Behcet Disease" EXACT []
synonym: "Adamantiades-Behcet Diseases" EXACT []
synonym: "BD" EXACT []
synonym: "Behcet's Syndrome" EXACT []
synonym: "Behcet Disease" EXACT []
synonym: "Behcets Syndrome" EXACT []
synonym: "Behcet Syndrome" EXACT []
synonym: "Behcet Triple Symptom Complex" EXACT []
synonym: "Behet's syndrome" EXACT []
synonym: "Behçet Disease" EXACT []
synonym: "Behçet Diseases" EXACT []
synonym: "Old Silk Route Disease" EXACT []
synonym: "triple symptom complex" EXACT []
xref: EFO:0003780
xref: GARD:848
xref: ICD10CM:M35.2
xref: ICD9CM:136.1
xref: MESH:D001528
xref: NCI:C34416
is_a: DOID:0060051 ! autoimmune disease of cardiovascular system
is_a: DOID:1407 ! anterior uveitis
is_a: DOID:403 ! mouth disease
is_a: DOID:865 ! vasculitis
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:13248
name: mucocele of appendix
synonym: "appendicele mucocele" EXACT []
xref: NCI:C3241
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9004508 ! Mucocele
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:13249
name: pneumatosis cystoides intestinalis
def: "A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM." [MESH:D011006]
xref: EFO:1001113
xref: MESH:D011006
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:1325
name: bronchus cancer
def: "A respiratory system cancer that is located_in the bronchus. (DO)" [http://en.wikipedia.org/wiki/Bronchus "DO"]
synonym: "malignant neoplasm of bronchus and lung" EXACT []
synonym: "malignant neoplasm of bronchus and lung, unspecified" EXACT []
synonym: "malignant neoplasm of bronchus or lung" EXACT []
synonym: "malignant neoplasm of bronchus or lung, unspecified" EXACT []
xref: ICD10CM:C34
xref: ICD9CM:162.9
is_a: DOID:1324 ! lung cancer
is_a: DOID:9001241 ! Bronchial Neoplasms
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:13250
name: diarrhea
def: "A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"]
synonym: "diarrhea of presumed infectious origin" RELATED []
synonym: "diarrheas" EXACT []
synonym: "diarrhoea" EXACT []
xref: MESH:D003967
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:13252
name: mesenteric vascular occlusion
def: "Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" [MESH:D008641]
synonym: "mesenteric vascular occlusions" EXACT []
xref: EFO:1001043
xref: MESH:D008641
is_a: DOID:341 ! peripheral vascular disease
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9006175 ! Peritoneal Diseases
is_a: DOID:9006474 ! Arterial Occlusive Diseases

[Term]
id: DOID:13254
name: diverticulitis of colon
def: "A colonic disease characterized by the formation and inflammation of diverticula within the colon wall. (DO)" [https://en.wikipedia.org/wiki/Diverticulitis "DO"]
synonym: "colonic diverticular disease" EXACT []
synonym: "colonic diverticulitis" EXACT []
xref: MESH:D004239
is_a: DOID:5353 ! colonic disease
is_a: DOID:7475 ! diverticulitis
is_a: DOID:9007768 ! Colonic Diverticulosis

[Term]
id: DOID:13258
name: typhoid fever
def: "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. (DO)" [http://www.merriam-webster.com/medlineplus/typhoid%20fever "DO"]
synonym: "Abdominal Typhus" EXACT []
synonym: "Enteric Fever" EXACT []
synonym: "enteric fevers" EXACT []
synonym: "Typhoid" EXACT []
synonym: "Typhoid Fevers" EXACT []
synonym: "typhoids" EXACT []
xref: EFO:0006789
xref: GARD:9564
xref: ICD10CM:A01.0
xref: ICD9CM:002.0
xref: MESH:D014435
xref: NCI:C35089
is_a: DOID:0060859 ! salmonellosis

[Term]
id: DOID:13268
name: porphyria
def: "An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. (DO)" [http://en.wikipedia.org/wiki/Porphyria#Subtypes "DO"]
synonym: "disorder of porphyrin and hem metabolism" EXACT []
synonym: "disorder of porphyrin metabolism" EXACT []
synonym: "hematoporphyria" EXACT []
synonym: "HFE POLYMORPHISM" RELATED []
synonym: "porphyrias" EXACT []
synonym: "Porphyrin Disorder" EXACT []
synonym: "Porphyrin Disorders" EXACT []
synonym: "porphyrinopathy" EXACT []
xref: EFO:0000665
xref: GARD:10353
xref: ICD10CM:E80.20
xref: ICD9CM:277.1
xref: MESH:D011164
xref: MONDO:0037939
xref: NCI:C97096
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:13269
name: hereditary coproporphyria
alt_id: DOID:9005794
alt_id: MIM:121300
alt_id: RDO:0000598
def: "An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS." [MESH:D046349]
synonym: "Coproporphyria" EXACT []
synonym: "COPROPORPHYRIA, DIGENIC" NARROW []
synonym: "coproporphyrinogen oxidase deficiency" EXACT []
synonym: "CPO deficiency" EXACT []
synonym: "CPOX deficiency" EXACT []
synonym: "CPOX-RELATED CONDITION" EXACT []
synonym: "CPOX-RELATED DISORDERS" EXACT []
synonym: "CPX DEFICIENCY  HARDEROPORPHYRIA" NARROW []
synonym: "HCP" EXACT []
synonym: "hereditary coproporphyria porphyria" EXACT []
synonym: "Porphyria Hepatica, Coproporphyria" EXACT []
synonym: "porphyria hepatica II" EXACT []
xref: GARD:6619
xref: ICD10CM:E80.29
xref: MESH:C535469
xref: MESH:D046349
xref: NCI:C84759
is_a: DOID:0080578 ! digenic disease
is_a: DOID:3133 ! acute porphyria
is_a: DOID:9005584 ! Hepatic Porphyrias

[Term]
id: DOID:13270
name: erythropoietic protoporphyria
def: "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. (DO)" [http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria "DO"]
synonym: "EPP" EXACT []
synonym: "erythrohepatic protoporphyria" EXACT []
synonym: "erythropoietic protoporphyrias" EXACT []
synonym: "Ferrochelatase Deficiencies" EXACT []
synonym: "Ferrochelatase Deficiency" EXACT []
synonym: "Heme Synthetase Deficiencies" EXACT []
synonym: "heme synthetase deficiency" EXACT []
synonym: "protoporphyria" EXACT []
xref: GARD:4527
xref: MESH:D046351
xref: MIM:PS177000
xref: NCI:C84698
xref: ORDO:79278
is_a: DOID:3133 ! acute porphyria
is_a: DOID:9005584 ! Hepatic Porphyrias

[Term]
id: DOID:13271
name: cutaneous porphyria
alt_id: MIM:263700
alt_id: RDO:0007025
def: "An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS." [MESH:D017092]
synonym: "CEP" EXACT []
synonym: "congenital erythropoietic porphyria" EXACT []
synonym: "Congenital Erythropoietic Porphyrias" EXACT []
synonym: "Deficiency of Uroporphyrinogen III Synthase" EXACT []
synonym: "Erythropoietic Porphyrias" EXACT []
synonym: "Gunther's Disease" EXACT []
synonym: "Gunther Disease" EXACT []
synonym: "Gunthers Disease" EXACT []
synonym: "Porphyria, Erythropoietic" EXACT []
synonym: "UROPORPHYRINOGEN III SYNTHASE DEFICIENCY" EXACT []
synonym: "UROS deficiency" EXACT []
xref: GARD:4446
xref: ICD10CM:E80.0
xref: MESH:D017092
xref: NCI:C84697
is_a: DOID:13268 ! porphyria
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:13272
name: Klebsiella pneumonia
def: "A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis. (DO)" [http://en.wikipedia.org/wiki/Klebsiella_pneumonia "DO", https://www.ncbi.nlm.nih.gov/pubmed/1555037 "DO"]
synonym: "Pneumonia due to Klebsiella pneumoniae" EXACT [ICD9CM_2006:482.0]
synonym: "Pneumonia due to Klebsiella pneumoniae (disorder)" EXACT [SNOMEDCT_2005_07_31:64479007]
xref: ICD10CM:J15.0
xref: ICD9CM:482.0
is_a: DOID:874 ! bacterial pneumonia
is_a: DOID:9003828 ! Klebsiella Infections
created_by: rgd
creation_date: 2018-06-19T00:00:00Z

[Term]
id: DOID:13276
name: Mycoplasma pneumoniae pneumonia
def: "A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. (DO)" [http://en.wikipedia.org/wiki/Pneumonia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000082.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/20632053 "DO"]
synonym: "cold agglutinin positive pneumonia" EXACT []
synonym: "mycoplasmal pneumonia" EXACT []
synonym: "mycoplasma pneumonia" EXACT []
synonym: "mycoplasma pneumonias" EXACT []
synonym: "pneumonia due to Eaton's agent" EXACT []
synonym: "pneumonia due to mycoplasma pneumoniae" EXACT []
synonym: "pneumonia due to mycoplasma pneumoniae (disorder)" EXACT []
synonym: "Primary Atypical Pneumonia" EXACT []
synonym: "primary atypical pneumonias" EXACT []
xref: EFO:0007387
xref: ICD10CM:J15.7
xref: ICD9CM:483.0
xref: MESH:D011019
is_a: DOID:874 ! bacterial pneumonia
is_a: DOID:9002467 ! Mycoplasma Infections

[Term]
id: DOID:1328
name: Rift Valley fever
def: "A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. (DO)" [http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/rvf/rvf_qa.htm "DO", http://www.who.int/mediacentre/factsheets/fs207/en/ "DO"]
xref: ICD10CM:A92.4
xref: MESH:D012295
xref: NCI:C128419
is_a: DOID:9004137 ! Bunyaviridae Infections
is_a: DOID:9007401 ! Viral Hemorrhagic Fevers
is_a: DOID:9007579 ! Arbovirus Infections
is_a: DOID:9007899 ! Animal Viral Hepatitis

[Term]
id: DOID:13282
name: intestinal tuberculosis
def: "A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. (DO)" [http://smj.sma.org.sg/5006/5006pe1.pdf "DO"]
synonym: "tuberculosis of intestine" EXACT []
xref: ICD9CM:014.8
is_a: DOID:404 ! gastrointestinal tuberculosis
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:13295
name: crater-like holes of optic disc
synonym: "Crater-like optic disc holes" EXACT [SNOMEDCT_2005_07_31:194048008]
xref: ICD9CM:377.22
xref: RDO:9003396
is_a: DOID:1393 ! visual pathway disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:133
name: vaginal Mullerian papilloma
def: "A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26948653 "DO"]
synonym: "vaginal Muellerian papilloma" EXACT []
xref: NCI:C40255
is_a: DOID:0060114 ! vaginal benign neoplasm
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:13300
name: Scheuermann's disease
alt_id: MIM:181440
def: "An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. (DO)" [http://en.wikipedia.org/wiki/Scheuermann%27s_disease "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Scheuermann%27s%20disease "DO"]
synonym: "adolescent kyphoses" EXACT []
synonym: "Adolescent Kyphosis" EXACT []
synonym: "juvenile kyphoses" EXACT []
synonym: "Juvenile Kyphosis" EXACT []
synonym: "juvenile osteochondritis of the spine" EXACT []
synonym: "juvenile osteochondrosis of Scheurermann" EXACT []
synonym: "Juvenile Osteochondrosis of Spine" EXACT []
synonym: "Scheuermann's kyphoses" EXACT []
synonym: "Scheuermann's kyphosis" EXACT []
synonym: "Scheuermann disease" EXACT []
synonym: "Scheuermann juvenile kyphoses" EXACT []
synonym: "Scheuermann Juvenile Kyphosis" EXACT []
synonym: "Scheuermann Kyphoses" EXACT []
synonym: "Scheuermann Kyphosis" EXACT []
synonym: "Scheuermanns Disease" EXACT []
synonym: "Scheuermanns kyphosis" EXACT []
synonym: "Sherman's disease" EXACT []
synonym: "spine juvenile osteochondroses" EXACT []
synonym: "spine juvenile osteochondrosis" EXACT []
xref: GARD:7610
xref: ICD10CM:M42.0
xref: ICD10CM:M42.00
xref: ICD9CM:732.0
xref: MESH:D012544
xref: NCI:C34999
is_a: DOID:4667 ! kyphosis
is_a: DOID:9008900 ! Spinal Osteochondrosis

[Term]
id: DOID:13306
name: diphtheritic cystitis
def: "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. (DO)" [http://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false "DO", https://www.ncbi.nlm.nih.gov/pubmed/18889690 "DO"]
xref: ICD10CM:A36.85
xref: ICD9CM:032.84
is_a: DOID:1679 ! cystitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:13310
name: diphtheritic peritonitis
def: "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. (DO)" [http://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false "DO"]
xref: ICD10CM:A36.89
xref: ICD9CM:032.83
is_a: DOID:8283 ! peritonitis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:13313
name: pancreatic mucinous ductal ectasia
xref: NCI:C5717
xref: RDO:9004839
is_a: DOID:26 ! pancreas disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:13316
name: exocrine pancreatic insufficiency
def: "A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK555926/ "DO", MESH:D010188]
synonym: "EPI" EXACT []
synonym: "exocrine pancreatic insufficiencies" EXACT []
synonym: "pancreatic insufficiencies" EXACT []
synonym: "pancreatic insufficiency" EXACT []
xref: ICD10CM:K86.81
xref: MESH:D010188
xref: NCI:C84316
is_a: DOID:26 ! pancreas disease

[Term]
id: DOID:13317
name: hyperinsulinemic hypoglycemia
alt_id: MESH:C538567
def: "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. (DO)" [http://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia "DO"]
synonym: "autosomal recessive hyperinsulinism" EXACT []
synonym: "familial hyperinsulinism with pancreatic nesidioblastosis" EXACT []
synonym: "hyperinsulinemia hypoglycemia of infancy" EXACT []
synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" EXACT []
synonym: "hyperinsulinemic hypoglycemia of infancy" EXACT []
synonym: "infancy hyperinsulinemia hypoglycemia" EXACT []
synonym: "islet cell hyperplasia" EXACT []
synonym: "nesidioblastoses" EXACT []
synonym: "nesidioblastosis" EXACT []
synonym: "nesidioblastosis of pancreas" EXACT []
synonym: "pancreas nesidioblastoses" EXACT []
synonym: "pancreas nesidioblastosis" EXACT []
synonym: "pancreatic nesidioblastoses" EXACT []
synonym: "pancreatic nesidioblastosis" EXACT []
synonym: "persistent hyperinsulinemia, hypoglycemia of infancy" EXACT []
synonym: "persistent hyperinsulinemic hypoglycemia" EXACT []
synonym: "persistent hyperinsulinemic hypoglycemia of infancy" EXACT []
synonym: "persistent hyperinsulinemic hypoglycemias" EXACT []
synonym: "PHHI" EXACT []
synonym: "PHHI hypoglycemia" EXACT []
synonym: "PHHI hypoglycemias" EXACT []
xref: EFO:0007318
xref: ICD10CM:E16.9
xref: MESH:D046768
xref: MIM:PS256450
xref: NCI:C122923
xref: NCI:C4375
is_a: DOID:9006828 ! Congenital Hyperinsulinism
is_a: DOID:9993 ! hypoglycemia
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:13326
name: chronic follicular conjunctivitis
xref: ICD10CM:H10.43
xref: ICD9CM:372.12
xref: RDO:9003791
is_a: DOID:2475 ! chronic conjunctivitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:13327
name: anatomical narrow angle borderline glaucoma
def: "A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055310/ "DO"]
xref: ICD9CM:365.02
is_a: DOID:9283 ! borderline glaucoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:13328
name: diabetic cataract
def: "A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23479523 "DO"]
xref: ICD9CM:366.41
xref: RDO:9000785
is_a: DOID:83 ! cataract
is_a: DOID:9002661 ! Diabetes Complications
created_by: rgd
creation_date: 2015-10-07T00:00:00Z

[Term]
id: DOID:13329
name: toxic optic neuropathy
synonym: "toxic optic neuropathies" EXACT []
xref: ICD10CM:H46.3
xref: ICD9CM:377.34
xref: MESH:D000081028
is_a: DOID:1210 ! optic neuritis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13333
name: hypertrophy of tongue papillae
synonym: "tongue papillary hypertrophy" EXACT []
xref: ICD10CM:K14.3
xref: ICD9CM:529.3
xref: MONDO:0001689
is_a: DOID:10944 ! tongue disease

[Term]
id: DOID:13336
name: congenital toxoplasmosis
def: "A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. (DO)" [http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh "DO", http://www.who.int/bulletin/volumes/91/7/12-111732.pdf "DO"]
synonym: "Congenital Toxoplasma gondii Infection" EXACT []
synonym: "Congenital Toxoplasma Infection" EXACT []
synonym: "congenital toxoplasma infections" EXACT []
synonym: "congenital toxoplasmoses" EXACT []
synonym: "Fetal Toxoplasmoses" EXACT []
synonym: "Fetal Toxoplasmosis" EXACT []
synonym: "Prenatal Toxoplasmoses" EXACT []
synonym: "prenatal toxoplasmosis" EXACT []
synonym: "toxoplasmosis - congen." EXACT []
xref: EFO:0007220
xref: GARD:10326
xref: ICD10CM:P37.1
xref: MESH:D014125
xref: NCI:C50503
xref: ORDO:858
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9002216 ! Central Nervous System Protozoal Infections
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9965 ! toxoplasmosis

[Term]
id: DOID:13341
name: parasitic conjunctivitis
xref: ICD9CM:372.15
is_a: DOID:2475 ! chronic conjunctivitis
is_a: DOID:9004432 ! Parasitic Eye Infections
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:13348
name: laryngeal cartilage cancer
synonym: "malignant neoplasm of laryngeal cartilage" EXACT []
synonym: "malignant neoplasm of laryngeal cartilages" EXACT []
synonym: "malignant tumor of laryngeal cartilage" EXACT []
xref: ICD10CM:C32.3
xref: ICD9CM:161.3
is_a: DOID:2596 ! larynx cancer

[Term]
id: DOID:13351
name: pedophilia
def: "A sexual disorder occurring in a person 16 years or older and that is recurrent with intense sexually arousing fantasies, sexual urges, or behaviors involving sexual activity with a prepubescent child (generally age 13 or younger). (from APA, DSM-IV, 1994)." [MESH:D010378]
synonym: "paedophilia" EXACT []
synonym: "pedophilias" EXACT []
xref: ICD10CM:F65.4
xref: ICD9CM:302.2
xref: MESH:D010378
xref: NCI:C94355
is_a: DOID:0060044 ! paraphilia disorder

[Term]
id: DOID:13352
name: ego-dystonic sexual orientation
def: "A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. (DO)" [http://en.wikipedia.org/wiki/Ego-dystonic_sexual_orientation "DO"]
xref: ICD9CM:302.0
is_a: DOID:0060043 ! sexual health disorder
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13353
name: diffuse interstitial keratitis
xref: ICD9CM:370.52
is_a: DOID:9857 ! interstitial keratitis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:13356
name: senile ectropion
synonym: "involutional ectropion" EXACT []
xref: ICD9CM:374.11
is_a: DOID:1570 ! ectropion

[Term]
id: DOID:13357
name: chondromalacia patellae
alt_id: MIM:168900
def: "A degeneration of the ARTICULAR CARTILAGE of the PATELLA, caused by a decrease in sulfated MUCOPOLYSACCHARIDES in the ground substance. When accompanied by pain, it is sometimes considered part of or confused with PATELLOFEMORAL PAIN SYNDROME." [MESH:D046789]
synonym: "chondromalacia of patella" EXACT []
synonym: "softening of articular cartilage of patella" EXACT []
xref: ICD10CM:M22.4
xref: ICD9CM:717.7
xref: MESH:D046789
is_a: DOID:2557 ! chondromalacia

[Term]
id: DOID:13359
name: Ehlers-Danlos syndrome
def: "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. (DO)" [http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome "DO", http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome "DO", http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706 "DO", http://www.merriam-webster.com/medlineplus/ehlers-Danlos "DO", http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html "DO", https://www.ehlers-danlos.com/what-is-eds/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23711271 "DO"]
synonym: "cutis elastica" EXACT []
synonym: "cutis hyperelastica" EXACT []
synonym: "Ehlers Danlos Disease" EXACT []
synonym: "elastic skin" EXACT []
xref: GARD:6322
xref: ICD10CM:Q79.6
xref: ICD9CM:756.83
xref: MESH:D004535
xref: MIM:PS130000
xref: NCI:C34568
is_a: DOID:225 ! syndrome
is_a: DOID:484 ! vascular hemostatic disease
is_a: DOID:854 ! collagen disease
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:13365
name: reading disorder
def: "A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. (DO)" [http://en.wikipedia.org/wiki/Reading_disability "DO", https://en.wikipedia.org/wiki/Learning_disability "DO"]
synonym: "reading disorders" EXACT []
xref: ICD9CM:315.09
is_a: DOID:8927 ! learning disability
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:13366
name: Stiff-Person syndrome
alt_id: MESH:C538136
alt_id: MIM:184850
def: "A movement disease that is of unknown etiology characterized by progressive rigidity. (DO)" [http://en.wikipedia.org/wiki/Stiff_person_syndrome "DO"]
synonym: "congenital stiff-man syndrome" EXACT []
synonym: "congenital stiff-man syndromes" EXACT []
synonym: "congenital stiff-person syndrome" EXACT []
synonym: "congenital stiff-person syndromes" EXACT []
synonym: "familial startle disease" EXACT []
synonym: "hereditary hyperekplexia" EXACT []
synonym: "Moersch Woltmann Syndrome" EXACT []
synonym: "PER" NARROW []
synonym: "PERM" NARROW []
synonym: "progressive encephalomyelitis with rigidity" NARROW []
synonym: "SPS" EXACT []
synonym: "Startle Syndrome" EXACT []
synonym: "Startle Syndromes" EXACT []
synonym: "stiff-baby syndrome" EXACT []
synonym: "stiff-baby syndromes" EXACT []
synonym: "stiff man syndrome" EXACT []
synonym: "stiffman syndrome" EXACT []
synonym: "stiff-trunk syndrome" EXACT []
synonym: "stiff-trunk syndromes" EXACT []
xref: EFO:0007498
xref: GARD:5023
xref: ICD10CM:G25.82
xref: ICD9CM:333.91
xref: MESH:D016750
xref: NCI:C85170
is_a: DOID:0060695 ! hyperekplexia
is_a: DOID:225 ! syndrome
is_a: DOID:319 ! spinal cord disease
is_a: DOID:438 ! autoimmune disease of the nervous system
is_a: DOID:480 ! movement disease

[Term]
id: DOID:13368
name: tinea profunda
def: "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. (DO)" [https://www.medigoo.com/articles/tinea-profunda/ "DO"]
synonym: "deep seated dermatophytosis" EXACT []
synonym: "granuloma trichophyticum" EXACT []
synonym: "Majocchi's granuloma" EXACT []
is_a: DOID:12179 ! tinea corporis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:13369
name: tinea manuum
def: "A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. (DO)" [http://en.wikipedia.org/wiki/Tinea_manuum "DO"]
synonym: "dermatophytosis of hand" EXACT []
synonym: "tinea manus" EXACT []
xref: ICD10CM:B35.2
xref: ICD9CM:110.2
xref: MESH:C000656824
is_a: DOID:1563 ! dermatomycosis
is_a: DOID:8913 ! dermatophytosis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:13371
name: scrub typhus
def: "A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy. (DO)" [http://en.wikipedia.org/wiki/Scrub_typhus "DO"]
synonym: "Chigger-borne rickettsiosis" RELATED []
synonym: "Chigger-borne typhus" RELATED []
synonym: "Japanese river fever" EXACT []
synonym: "Kedani fever" EXACT []
synonym: "Mite-borne rickettsiosis" RELATED []
synonym: "Mite-borne typhus" RELATED []
synonym: "scrub mite-borne typhus" EXACT []
synonym: "Tropical typhus" RELATED []
synonym: "Tsutsugamushi" EXACT [MTHICD9_2006:081.2]
synonym: "Tsutsugamushi Disease" EXACT []
synonym: "Tsutsugamushi Diseases" EXACT []
synonym: "Tsutsugamushi Fever" EXACT []
synonym: "Tsutsugamushi Fevers" EXACT []
synonym: "Typhus fever due to Rickettsia tsutsugamushi" EXACT []
xref: EFO:0007480
xref: ICD10CM:A75.3
xref: ICD9CM:081.2
xref: MESH:D012612
is_a: DOID:11256 ! typhus
is_a: DOID:9000458 ! Rickettsiaceae Infections

[Term]
id: DOID:13372
name: alpha 1-antitrypsin deficiency
alt_id: MESH:C566273
alt_id: MIM:613490
def: "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. (DO)" [http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm "DO", https://alpha1.org/what-is-alpha1/ "DO", https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency "DO"]
synonym: "'ANTITHROMBIN' PITTSBURGH" RELATED []
synonym: "A1ATD" EXACT []
synonym: "AAT deficiency" EXACT []
synonym: "alpha 1-antitrypsin deficiencies" EXACT []
synonym: "alpha-1-antitrypsin deficiency, autosomal recessive" EXACT []
synonym: "alpha-1 protease inhibitor deficiency" EXACT []
synonym: "Alpha-1 Related Emphysema" EXACT []
synonym: "Emphysema-cirrhosis, due to AAT deficiency" NARROW []
synonym: "Emphysema due to AAT deficiency" NARROW []
synonym: "Genetic Emphysema" EXACT []
synonym: "Hemorrhagic diathesis due to antithrombin Pittsburgh" NARROW []
synonym: "HEMORRHAGIC DISEASE DUE TO ALPHA-1-ANTITRYPSIN PITTSBURGH MUTATION" NARROW []
synonym: "Hereditary Pulmonary Emphysema" EXACT []
synonym: "Inherited Emphysema" EXACT []
synonym: "PI M(HEERLEN)" RELATED []
synonym: "PI M(NICHINAN)" RELATED []
synonym: "PI NULL(BELLINGHAM)" RELATED []
synonym: "PI NULL(CARDIFF)" RELATED []
synonym: "PI NULL(DEVON)" RELATED []
synonym: "PI NULL(ISOLA DI PROCIDA)" RELATED []
synonym: "PI NULL(LUDWIGSHAFEN)" RELATED []
synonym: "PI NULL(NEWPORT)" RELATED []
synonym: "PI NULL(PROCIDA)" RELATED []
synonym: "PI P(DUARTE)" RELATED []
synonym: "PI P(LOWELL)" RELATED []
synonym: "PI PITTSBURGH" RELATED []
synonym: "PI Q0(BELLINGHAM)" RELATED []
synonym: "PI Q0(CARDIFF)" RELATED []
synonym: "PI Q0(DEVON)" RELATED []
synonym: "PI Q0(GRANITE FALLS)" RELATED []
synonym: "PI Q0(LUDWIGSHAFEN)" RELATED []
synonym: "PI Q0(NEWPORT)" RELATED []
synonym: "PI Q0(PROCIDA)" RELATED []
synonym: "PI S(iiyama)" RELATED []
synonym: "PI W(Bethesda)" RELATED []
synonym: "PI Z(Bristol)" RELATED []
synonym: "SERPINA1-RELATED CONDITION" EXACT []
xref: EFO:0002946
xref: GARD:5784
xref: ICD10CM:E88.01
xref: ICD9CM:273.4
xref: MESH:D019896
xref: MONDO:0013282
xref: NCI:C84397
xref: ORDO:60
is_a: DOID:2345 ! plasma protein metabolism disease
is_a: DOID:409 ! liver disease
is_a: DOID:850 ! lung disease
is_a: DOID:9000206 ! Subcutaneous Emphysema

[Term]
id: DOID:13374
name: fibrodysplasia ossificans progressiva
def: "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. (DO)" [http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva "DO", http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/ "DO", https://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia-ossificans-progressiva "DO"]
synonym: "FOP" EXACT []
synonym: "myositis ossificans progressiva" EXACT []
synonym: "progressive myositis ossificans" EXACT []
synonym: "progressive ossifying myositis" EXACT []
synonym: "stone man syndrome" EXACT []
xref: GARD:6445
xref: ICD10CM:M61.1
xref: ICD10CM:M61.10
xref: ICD9CM:728.11
xref: MIM:135100
xref: MONDO:0007606
xref: NCI:C3040
xref: ORDO:337
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:65 ! connective tissue disease
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:13375
name: temporal arteritis
alt_id: MESH:C538533
alt_id: MIM:187360
def: "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head. (DO)" [https://www.mayoclinic.org/diseases-conditions/giant-cell-arteritis/symptoms-causes/syc-20372758 "DO"]
synonym: "cranial arteritides" EXACT []
synonym: "cranial arteritis" EXACT []
synonym: "giant cell aortic arteritis" EXACT []
synonym: "giant cell aortitides" EXACT []
synonym: "Giant Cell Aortitis" EXACT []
synonym: "Giant Cell Aortitis, Horton's" EXACT []
synonym: "giant cell arteritides" EXACT []
synonym: "Giant Cell Arteritis" EXACT []
synonym: "Horton's Disease" EXACT []
synonym: "Horton's Giant Cell Arteritis" EXACT []
synonym: "Horton Disease" EXACT []
synonym: "Horton Giant Cell Arteritis" EXACT []
synonym: "Hortons Disease" EXACT []
synonym: "Juvenile cranial arteritis" EXACT []
synonym: "juvenile giant cell arteritis" EXACT []
synonym: "juvenile polymyalgia rheumatica" EXACT []
synonym: "juvenile temporal arteritides" EXACT []
synonym: "juvenile temporal arteritis" EXACT []
synonym: "temporal arteritides" EXACT []
xref: EFO:1001209
xref: ICD9CM:446.5
xref: MESH:D013700
xref: NCI:C35065
xref: ORDO:397
is_a: DOID:0060004 ! autoimmune disease of central nervous system
is_a: DOID:0060051 ! autoimmune disease of cardiovascular system
is_a: DOID:525 ! central nervous system vasculitis
is_a: DOID:9002564 ! Arteritis
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:13378
name: Kawasaki disease
alt_id: MESH:C537014
alt_id: MIM:611775
def: "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. (DO)" [http://en.wikipedia.org/wiki/Kawasaki_disease "DO"]
synonym: "acute febrile MCLS" EXACT []
synonym: "acute febrile mucocutaneous lymph node syndrome" EXACT []
synonym: "infantile polyarteritis" EXACT []
synonym: "Kawasaki's disease" EXACT []
synonym: "Kawasaki syndrome" EXACT []
synonym: "KD" EXACT []
synonym: "MLNS" EXACT []
synonym: "mucocutaneous lymph node syndrome" EXACT []
xref: EFO:0004246
xref: GARD:6816
xref: ICD10CM:M30.3
xref: ICD9CM:446.1
xref: MESH:D009080
xref: NCI:C34825
xref: ORDO:2331
is_a: DOID:1602 ! lymphadenitis
is_a: DOID:225 ! syndrome
is_a: DOID:865 ! vasculitis
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:1338
name: congenital dyserythropoietic anemia
def: "A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. (DO)" [http://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia "DO", http://www.ncbi.nlm.nih.gov/books/NBK5313/ "DO"]
synonym: "Congenital Dyserythropoietic Anemias" EXACT []
synonym: "congenital dyshaematopoietic anaemia" EXACT []
synonym: "syndromic congenital hemolytic and dyserythropoietic anemia" BROAD []
xref: GARD:1999
xref: ICD10CM:D64.4
xref: MESH:D000742
xref: MIM:PS224120
xref: NCI:C84646
xref: ORDO:85
is_a: DOID:589 ! congenital hemolytic anemia

[Term]
id: DOID:13381
name: pernicious anemia
def: "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors. (DO)" [https://medlineplus.gov/ency/article/000569.htm "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3441227/ "DO"]
synonym: "Addison's anaemia" EXACT []
synonym: "Addison's anemia" EXACT []
synonym: "Addison anemia" EXACT []
synonym: "Addisons anemia" EXACT []
synonym: "Biermer's anaemia" EXACT []
synonym: "Biermer's anemia" EXACT []
synonym: "pernicious anaemia" EXACT []
xref: EFO:0005576
xref: GARD:12671
xref: ICD10CM:D51.0
xref: ICD9CM:281.0
xref: MESH:D000752
xref: MIM:170900
xref: MONDO:0008228
xref: NCI:C2871
is_a: DOID:0050731 ! vitamin B12 deficiency
is_a: DOID:13382 ! megaloblastic anemia

[Term]
id: DOID:13382
name: megaloblastic anemia
def: "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. (DO)" [http://en.wikipedia.org/wiki/Megaloblastic_anemia "DO"]
synonym: "megaloblastic anaemia" EXACT []
synonym: "MEGALOBLASTIC ANEMIA DUE TO INBORN ERRORS OF METABOLISM" NARROW []
synonym: "megaloblastic anemias" EXACT []
synonym: "recessive hereditary megaloblastic anaemia 1" EXACT []
xref: ICD10CM:D53.1
xref: MESH:D000749
xref: NCI:C34382
is_a: DOID:2361 ! macrocytic anemia

[Term]
id: DOID:13386
name: gastrointestinal anthrax
def: "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. (DO)" [http://www.springerlink.com/content/g3575hwr232l4411/ "DO", https://en.wikipedia.org/wiki/Anthrax#Gastrointestinal "DO"]
xref: ICD10CM:A22.2
xref: ICD9CM:022.2
xref: MESH:C571911
is_a: DOID:7427 ! anthrax disease
is_a: DOID:77 ! gastrointestinal system disease

[Term]
id: DOID:13389
name: labia majora carcinoma
def: "A vulva carcinoma that is located_in the labia majora. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27917514 "DO"]
synonym: "carcinoma of labia majora" EXACT []
synonym: "labia majora cancer" EXACT []
xref: NCI:C9363
is_a: DOID:11905 ! labium majus cancer
is_a: DOID:1294 ! vulva carcinoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:1339
name: Diamond-Blackfan anemia
def: "A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. (DO)" [http://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia "DO", http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia "DO", http://www.cdc.gov/ncbddd/dba/ "DO", http://www.omim.org/entry/105650 "DO"]
synonym: "Aase syndrome" EXACT []
synonym: "BDS" EXACT []
synonym: "Blackfan Diamond disease" EXACT []
synonym: "Blackfan Diamond syndrome" EXACT []
synonym: "chronic congenital agenerative anemia" EXACT []
synonym: "chronic congenital aregenerative anemia" EXACT []
synonym: "chronic constitutional pure red cell anaemia" EXACT []
synonym: "congenital erythroid hypoplastic anemia" EXACT []
synonym: "congenital hypoplastic anemia of Blackfan and Diamond" EXACT []
synonym: "congenital pure red cell anemia" EXACT []
synonym: "congenital pure red cell aplasia" EXACT []
synonym: "DBA" EXACT []
synonym: "Diamond-Blackfan type anemia" EXACT []
synonym: "erythrogenesis imperfecta" EXACT []
synonym: "erythrogenesis imperfectas" EXACT []
synonym: "inherited erythroblastopenia" EXACT []
synonym: "pure hereditary red cell aplasia" EXACT []
xref: EFO:0004130
xref: GARD:6274
xref: MESH:D029503
xref: MIM:PS105650
xref: MONDO:0015253
xref: NCI:C61236
xref: ORDO:124
is_a: DOID:1340 ! pure red-cell aplasia

[Term]
id: DOID:13399
name: color blindness
def: "A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. (DO)" [http://en.wikipedia.org/wiki/Color_blindness "DO"]
synonym: "color vision defect" EXACT []
synonym: "color vision defects" EXACT []
synonym: "color vision deficiency" EXACT []
synonym: "colour blindnes" EXACT []
synonym: "colour blindness" EXACT []
synonym: "colour vision deficiency" EXACT []
synonym: "green color blindness" EXACT []
synonym: "inherited color blindness" EXACT []
synonym: "monochromatopsia" EXACT []
xref: ICD10CM:H53.5
xref: ICD9CM:368.5
xref: MESH:D003117
xref: NCI:C3891
is_a: DOID:1432 ! blindness

[Term]
id: DOID:134
name: vaginal glandular tumor
def: "A vaginal cancer that has_material_basis_in glandular tissue. (DO)" [https://www.mayoclinic.org/diseases-conditions/vaginal-cancer/symptoms-causes/syc-20352447 "DO"]
xref: NCI:C40250
xref: RDO:9004606
is_a: DOID:119 ! vaginal cancer
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:1340
name: pure red-cell aplasia
def: "A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142432/ "DO", MESH:D012010]
synonym: "Erythrocyte Aplasia" EXACT []
synonym: "erythrocyte aplasias" EXACT []
synonym: "primary red cell aplasia" EXACT []
synonym: "pure red-cell aplasias" EXACT []
synonym: "red cell hypoplasia" EXACT []
xref: GARD:7504
xref: MESH:D012010
xref: MONDO:0001705
xref: NCI:C34974
is_a: DOID:1342 ! congenital hypoplastic anemia

[Term]
id: DOID:13401
name: angioid streaks
alt_id: MIM:607140
def: "Small breaks in the elastin-filled tissue of the retina." [MESH:D000793]
synonym: "Angioid Streak" EXACT []
xref: EFO:1000805
xref: MESH:D000793
is_a: DOID:5679 ! retinal disease

[Term]
id: DOID:13402
name: skin sarcoidosis
synonym: "cutaneous sarcoid" EXACT []
synonym: "cutaneous sarcoidosis" EXACT []
xref: EFO:1000767
xref: ICD10CM:D86.3
xref: MONDO:0006611
xref: NCI:C34996
is_a: DOID:11335 ! sarcoidosis
is_a: DOID:37 ! skin disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:13403
name: neurosarcoidosis
def: "A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975794/ "DO"]
synonym: "cerebral sarcoidosis" EXACT []
synonym: "nervous system sarcoidosis" EXACT []
xref: MESH:C535814
xref: NCI:C35441
is_a: DOID:11335 ! sarcoidosis
is_a: DOID:331 ! central nervous system disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:13404
name: uveoparotid fever
def: "A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739221/ "DO"]
synonym: "Heerfordt's syndrome" EXACT []
synonym: "Heerfordt syndrome" EXACT []
synonym: "uveoparotid fevers" EXACT []
synonym: "uveoparotitides" EXACT []
synonym: "uveoparotitis" EXACT []
xref: EFO:1001232
xref: ICD10CM:D86.89
xref: MESH:D014608
is_a: DOID:11335 ! sarcoidosis

[Term]
id: DOID:13405
name: cardiac sarcoidosis
def: "A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731586/ "DO"]
xref: NCI:C35589
is_a: DOID:11335 ! sarcoidosis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:13406
name: pulmonary sarcoidosis
def: "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction. (DO)" [https://www.atsjournals.org/doi/full/10.1164/rccm.201006-0865CI "DO"]
synonym: "lung sarcoidosis" EXACT []
synonym: "pulmonary sarcoidoses" EXACT []
xref: ICD10CM:D86.0
xref: MESH:D017565
xref: NCI:C34997
is_a: DOID:11335 ! sarcoidosis
is_a: DOID:3082 ! interstitial lung disease

[Term]
id: DOID:13407
name: hypercalcemic sarcoidosis
xref: MONDO:0001709
xref: NCI:C35807
is_a: DOID:11335 ! sarcoidosis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:13409
name: perforation of bile duct
synonym: "bile duct perforation" EXACT []
xref: ICD10CM:K83.2
xref: ICD9CM:576.3
xref: NCI:C143742
xref: NCI:C78528
is_a: DOID:4138 ! bile duct disease
is_a: DOID:9741 ! biliary tract disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:13413
name: hepatic encephalopathy
def: "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. (DO)" [https://en.wikipedia.org/wiki/Hepatic_encephalopathy "DO"]
synonym: "Fulminant Hepatic Failure with Cerebral Edema" EXACT []
synonym: "hepatic encephalopathies" EXACT []
synonym: "Hepatic Stupor" EXACT []
synonym: "Hepatic Stupors" EXACT []
synonym: "Hepatocerebral Encephalopathies" EXACT []
synonym: "Hepatocerebral Encephalopathy" EXACT []
synonym: "Portal-Systemic Encephalopathies" EXACT []
synonym: "Portal Systemic Encephalopathy" EXACT []
synonym: "Portosystemic Encephalopathies" EXACT []
synonym: "portosystemic encephalopathy" EXACT []
xref: GARD:10452
xref: ICD10CM:K72
xref: ICD10CM:K76.82
xref: ICD9CM:572.2
xref: MESH:D006501
xref: NCI:C79596
is_a: DOID:225 ! syndrome
is_a: DOID:9005627 ! Metabolic Brain Diseases
is_a: DOID:9007874 ! Liver Failure
is_a: DOID:936 ! brain disease

[Term]
id: DOID:13417
name: alexia
def: "An agnosia that is a loss of the ability to recognize text. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO", http://en.wikipedia.org/wiki/Alexia_%28disorder%29 "DO"]
synonym: "acquired alexia" EXACT []
synonym: "acquired dyslexia" EXACT []
synonym: "acquired global dyslexia" EXACT []
synonym: "acquired reading disabilities" EXACT []
synonym: "Acquired Reading Disability" EXACT []
synonym: "acquired spelling dyslexia" EXACT []
synonym: "acquired word blindness" EXACT []
synonym: "aphemesthaesia" EXACT []
xref: ICD9CM:315.01
xref: MESH:D004411
is_a: DOID:1561 ! cognitive disorder
is_a: DOID:4090 ! agnosia
is_a: DOID:4428 ! dyslexia
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:13419
name: neurogenic bowel
def: "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." [MESH:D055496]
synonym: "Neurogenic Bowels" EXACT []
xref: EFO:1001061
xref: ICD9CM:564.81
xref: MESH:D055496
is_a: DOID:3877 ! functional colonic disease
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:1342
name: congenital hypoplastic anemia
def: "An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life. (DO)" [https://en.wikipedia.org/wiki/Congenital_hypoplastic_anemia "DO", MESH:D029502]
synonym: "congenital aplastic anaemia" EXACT []
synonym: "congenital aplastic anemia" EXACT []
synonym: "congenital hypoplastic anaemia" EXACT []
synonym: "congenital hypoplastic anemias" EXACT []
synonym: "constitutional aplastic anaemia" RELATED []
xref: ICD10CM:D61.0
xref: ICD10CM:D61.01
xref: ICD9CM:284.0
xref: MESH:D029502
is_a: DOID:0080015 ! physical disorder
is_a: DOID:12449 ! aplastic anemia

[Term]
id: DOID:1343
name: urethritis
def: "Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both." [MESH:D014526]
synonym: "non-gonococcal urethritis" EXACT []
synonym: "nongonococcal urethritis" EXACT []
synonym: "urethritides" EXACT []
xref: EFO:0003878
xref: ICD10CM:N34.2
xref: ICD9CM:597.80
xref: MESH:D014526
xref: NCI:C26904
is_a: DOID:732 ! urethral disease

[Term]
id: DOID:13431
name: bejel
def: "A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. (DO)" [http://en.wikipedia.org/wiki/Bejel "DO", http://www.merckmanuals.com/home/sec17/ch190/ch190d.html "DO"]
synonym: "dichuchwa" EXACT []
synonym: "frenga" EXACT []
synonym: "njovera" EXACT []
synonym: "nonvenereal endemic syphilis" EXACT []
synonym: "nonvenereal syphilis" EXACT []
xref: GARD:5905
xref: MESH:C538405
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:0080001 ! bone disease
is_a: DOID:3488 ! cellulitis
is_a: DOID:403 ! mouth disease
is_a: DOID:9000746 ! Treponemal Infections

[Term]
id: DOID:13444
name: glanders
def: "A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs. (DO)" [http://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/ "DO"]
synonym: "Farcy pipes" EXACT [SNOMEDCT_2005_07_31:35322000]
synonym: "infection due to Pseudomonas mallei" EXACT []
xref: EFO:0007286
xref: GARD:9536
xref: ICD10CM:A24.0
xref: ICD9CM:024
xref: MESH:D005896
xref: NCI:C34638
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9000739 ! Burkholderia Infections
is_a: DOID:9001187 ! Horse Diseases

[Term]
id: DOID:13446
name: basilar artery occlusion
xref: ICD10CM:I65.1
xref: ICD9CM:433.0
is_a: DOID:0050828 ! artery disease
is_a: DOID:5976 ! occlusion precerebral artery
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:13447
name: corneal argyrosis
synonym: "argentous corneal deposits" EXACT []
synonym: "argyrosis of cornea" EXACT []
xref: ICD10CM:H18.02
xref: ICD9CM:371.16
is_a: DOID:10124 ! corneal disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13448
name: posterior corneal pigmentation
synonym: "Posterior corneal pigmentations" EXACT [ICD9CM_2006:371.13]
xref: ICD10CM:H18.05
xref: ICD9CM:371.13
xref: RDO:9003425
is_a: DOID:11547 ! corneal deposit
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13450
name: coccidioidomycosis
def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. (DO)" [http://www.merck.com/mmhe/sec17/ch197/ch197e.html "DO"]
synonym: "Coccidioides immitis Infection" EXACT []
synonym: "Coccidioides immitis infections" EXACT []
synonym: "Coccidioidomycoses" EXACT []
synonym: "primary extrapulmonary coccidioidomycosis" EXACT []
synonym: "San Joaquin Valley Fever" EXACT []
synonym: "Valley Fever" EXACT []
synonym: "valley fevers" EXACT []
xref: EFO:0007211
xref: GARD:9525
xref: ICD10CM:B38
xref: ICD9CM:114
xref: MESH:D003047
xref: NCI:C84642
is_a: DOID:0050292 ! primary systemic mycosis

[Term]
id: DOID:13452
name: scleritis
def: "Refers to any inflammation of the sclera including episcleritis, a benign condition affecting only the episclera, which is generally short-lived and easily treated. Classic scleritis, on the other hand, affects deeper tissue and is characterized by higher rates of visual acuity loss and even mortality, particularly in necrotizing form. Its characteristic symptom is severe and general head pain. Scleritis has also been associated with systemic collagen disease. Etiology is unknown but is thought to involve a local immune response. Treatment is difficult and includes administration of anti-inflammatory and immunosuppressive agents such as corticosteroids. Inflammation of the sclera may also be secondary to inflammation of adjacent tissues, such as the conjunctiva." [MESH:D015423]
synonym: "Episcleritides" EXACT []
synonym: "Episcleritis" EXACT []
synonym: "Necrotizing Scleritides" EXACT []
synonym: "Necrotizing Scleritis" EXACT []
synonym: "Scleritides" EXACT []
xref: GARD:12911
xref: ICD10CM:H15.0
xref: ICD9CM:379.00
xref: MESH:D015423
xref: NCI:C119046
xref: RDO:0006864
is_a: DOID:11343 ! scleral disease

[Term]
id: DOID:13453
name: gonococcal bursitis
xref: ICD10CM:A54.49
xref: ICD9CM:098.52
is_a: DOID:2965 ! bursitis
is_a: DOID:9008538 ! Neisseriaceae Infections
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:13454
name: gonococcal synovitis
synonym: "gonococcal synovitis and tenosynovitis" EXACT []
synonym: "gonococcal synovitis or tenosynovitis" EXACT []
xref: ICD9CM:098.51
is_a: DOID:2703 ! synovitis
is_a: DOID:9008538 ! Neisseriaceae Infections
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:13461
name: urethral intrinsic sphincter deficiency
synonym: "intrinsic (urethral) sphincter deficiency [ISD]" EXACT []
xref: ICD10CM:N36.42
xref: ICD9CM:599.82
is_a: DOID:732 ! urethral disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:13473
name: central pterygium
def: "A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula. (DO)" [https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ "DO"]
xref: ICD10CM:H11.02
xref: ICD9CM:372.43
is_a: DOID:13474 ! progressive peripheral pterygium
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:13474
name: progressive peripheral pterygium
def: "A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula. (DO)" [https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ "DO"]
xref: ICD9CM:372.42
is_a: DOID:10526 ! conjunctival pterygium
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:13476
name: supraglottis cancer
synonym: "Ca larynx - supraglottis" EXACT []
synonym: "malignant neoplasm of extrinsic larynx" EXACT [MTHICD9_2006:161.1]
synonym: "malignant neoplasm of supraglottis" EXACT []
synonym: "malignant Supraglottic tumor" EXACT [NCI2004_11_17:C3545]
synonym: "malignant tumor of supraglottis" EXACT [SNOMEDCT_2005_07_31:187842004]
synonym: "supraglottis" EXACT [NCI2004_11_17:C12279]
xref: ICD10CM:C32.1
xref: ICD9CM:161.1
xref: NCI:C3545
is_a: DOID:2596 ! larynx cancer

[Term]
id: DOID:13477
name: balanitis xerotica obliterans
def: "A balantitis characterized by white plaques or patches on genitals. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24295833 "DO"]
synonym: "Kraurosis Penis" EXACT []
synonym: "penile lichen sclerosus" EXACT []
xref: ICD9CM:607.81
xref: MESH:D052798
xref: NCI:C3523
is_a: DOID:13033 ! balanitis

[Term]
id: DOID:13481
name: thanatophoric dysplasia
def: "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. (DO)" [http://en.wikipedia.org/wiki/Thanatophoric_dysplasia "DO", http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia "DO"]
synonym: "Thanatophoric Dwarfism" EXACT []
synonym: "Thanatophoric Dwarfisms" EXACT []
synonym: "thanatophoric dysplasias" EXACT []
synonym: "thanatophoric short stature" EXACT []
xref: GARD:85
xref: ICD10CM:Q77.1
xref: MESH:D013796
xref: NCI:C85187
xref: ORDO:1860
xref: ORDO:2655
xref: ORDO:93274
xref: ORDO:93275
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:4480 ! achondroplasia
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:13482
name: Proteus syndrome
alt_id: MIM:176920
def: "A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues. (DO)" [https://ghr.nlm.nih.gov/condition/proteus-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK99495/ "DO"]
synonym: "ELATTOPROTEUS SYNDROME" NARROW []
synonym: "Elephant Man Disease" EXACT []
synonym: "partial gigantism of hands and feet, nevi, hemihypertrophy, and macrocephaly" EXACT []
synonym: "Proteus like syndrome" EXACT []
synonym: "Wiedemann's syndrome" EXACT []
xref: GARD:7475
xref: MESH:D016715
xref: NCI:C85032
xref: ORDO:744
is_a: DOID:0080006 ! bone development disease
is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:13487
name: childhood disintegrative disease
def: "A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. (DO)" [http://en.wikipedia.org/wiki/Heller%27s_syndrome "DO", http://www.patient.co.uk/doctor/Heller%27s-Syndrome.htm "DO"]
synonym: "disintegrative psychosis" EXACT []
synonym: "Heller's syndrome" EXACT []
synonym: "symbiotic psychosis" EXACT []
xref: GARD:6040
xref: ICD10CM:F84.3
xref: ICD9CM:299.1
xref: NCI:C97164
is_a: DOID:0060040 ! pervasive developmental disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:13490
name: active cochleovestibular Meniere's disease
synonym: "active cochleovestibular Meniere disease" EXACT []
synonym: "cochleovestibular active Mnire's disease" EXACT []
xref: ICD9CM:386.01
is_a: DOID:9849 ! Meniere's disease
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:13491
name: active vestibular Meniere's disease
synonym: "active vestibular Meniere disease" EXACT []
synonym: "vestibular active Mnire's disease" EXACT []
xref: ICD9CM:386.03
is_a: DOID:9849 ! Meniere's disease
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:13492
name: active cochlear Meniere's disease
synonym: "active cochlear Meniere disease" EXACT []
synonym: "cochlear active Mnire's disease" EXACT []
xref: ICD9CM:386.02
is_a: DOID:9849 ! Meniere's disease
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:13498
name: urethral syndrome
xref: ICD10CM:N34.3
xref: ICD9CM:597.81
is_a: DOID:225 ! syndrome
is_a: DOID:732 ! urethral disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:13499
name: jejunal cancer
synonym: "cancer of jejunum" EXACT []
synonym: "cancer of the jejunum" EXACT []
synonym: "jejunal cancers" EXACT []
synonym: "jejunum cancer" EXACT []
synonym: "jejunum cancers" EXACT []
synonym: "malignant neoplasm of jejunum" EXACT []
synonym: "malignant tumor of jejunum" EXACT []
xref: EFO:1000998
xref: ICD10CM:C17.1
xref: ICD9CM:152.1
xref: NCI:C170919
is_a: DOID:10154 ! small intestine cancer
is_a: DOID:3218 ! jejunal neoplasm

[Term]
id: DOID:135
name: benign vaginal carcinosarcoma
def: "A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. (DO)" [https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5 "DO"]
xref: NCI:C40275
is_a: DOID:0060114 ! vaginal benign neoplasm

[Term]
id: DOID:1350
name: paranasal sinus benign neoplasm
synonym: "Paranasal Sinus Papilloma" NARROW []
synonym: "Paranasal Sinus Schneiderian Papilloma" NARROW []
xref: EFO:0003866
xref: EFO:1000455
is_a: DOID:0050621 ! respiratory system benign neoplasm
is_a: DOID:9000118 ! Paranasal Sinus Neoplasms

[Term]
id: DOID:13500
name: hairy tongue
def: "A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" [MESH:D014064]
synonym: "hairy tongues" EXACT []
synonym: "overgrowth of filiform papillae" EXACT []
xref: EFO:1000957
xref: MESH:D014064
xref: NCI:C35075
is_a: DOID:10944 ! tongue disease

[Term]
id: DOID:13501
name: Moebius syndrome
alt_id: MESH:C535807
alt_id: MIM:157900
def: "A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). (DO)" [https://pubmed.ncbi.nlm.nih.gov/33474647/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4082742/ "DO"]
synonym: "congenital ophthalmoplegia and facial paresis" EXACT []
synonym: "MBS" EXACT []
synonym: "Mobius syndrome" EXACT []
synonym: "Mobius syndromes" EXACT []
synonym: "Moebius Congenital Oculofacial Paralysis" EXACT []
synonym: "Moebius Sequence" EXACT []
synonym: "Moebius spectrum" EXACT []
synonym: "Moebius syndrome 1" EXACT []
synonym: "Moebius syndromes" EXACT []
synonym: "Möbius sequence" EXACT []
synonym: "oromandibular-limb hypogenesis spectrum" EXACT []
xref: EFO:1001046
xref: GARD:8549
xref: MESH:D020331
xref: MONDO:0008006
xref: NCI:C84893
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1756 ! facial nerve disease
is_a: DOID:225 ! syndrome
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:13507
name: trigonitis
xref: ICD10CM:N30.3
xref: ICD9CM:595.3
xref: NCI:C123175
is_a: DOID:1679 ! cystitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:13514
name: venous tributary occlusion of retina
def: "An obstruction occurring within any of the branches of the central retinal vein." []
synonym: "Branch retinal occlusion" EXACT []
synonym: "Branch Retinal Vein Occlusion" EXACT []
synonym: "Branch retinal vein thrombosis" EXACT []
synonym: "BRVO" EXACT []
synonym: "BRVT" EXACT []
synonym: "BVO" EXACT []
synonym: "Venous retinal branch occlusion" EXACT []
synonym: "Venous retinal tributary occlusion" EXACT []
synonym: "venous tributary branch occlusion of retina" EXACT []
xref: ICD9CM:362.36
xref: RDO:9000120
is_a: DOID:1727 ! retinal vein occlusion
is_a: DOID:1729 ! retinal vascular occlusion

[Term]
id: DOID:13515
name: tuberous sclerosis
def: "A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. (DO)" [https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms "DO"]
synonym: "adenoma sebaceum" EXACT []
synonym: "Bourneville's Disease" EXACT []
synonym: "Bourneville's Syndrome" EXACT []
synonym: "Bourneville disease" EXACT []
synonym: "Bourneville phacomatosis" EXACT []
synonym: "Bourneville Phakomatosis" EXACT []
synonym: "Bourneville Pringle's Disease" EXACT []
synonym: "Bourneville Pringle Disease" EXACT []
synonym: "Bourneville-Pringles Disease" EXACT []
synonym: "Bourneville Syndrome" EXACT []
synonym: "cerebral scleroses" EXACT []
synonym: "Cerebral Sclerosis" EXACT []
synonym: "CORTICAL TUBERS" NARROW []
synonym: "Epiloia" EXACT []
synonym: "sclerosis tuberosa" EXACT []
synonym: "TS" EXACT []
synonym: "TSC" EXACT []
synonym: "tuberose sclerosis" EXACT []
synonym: "tuberous sclerosis complex" EXACT []
synonym: "tuberous sclerosis syndrome" EXACT []
xref: GARD:7830
xref: ICD10CM:Q85.1
xref: ICD9CM:759.5
xref: MESH:D014402
xref: MIM:PS191100
xref: NCI:C3424
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9001030 ! Multiple Primary Neoplasms
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9001734 ! Neurocutaneous Syndromes
is_a: DOID:9005611 ! Malformations of Cortical Development, Group I
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes
is_a: DOID:9007253 ! Hamartoma

[Term]
id: DOID:1352
name: paranasal sinus disease
alt_id: RDO:0006284
def: "Diseases affecting or involving the PARANASAL SINUSES and generally manifesting as inflammation, abscesses, cysts, or tumors." [MESH:D010254]
synonym: "disorder of nasal sinus" EXACT []
synonym: "paranasal sinus diseases" EXACT []
xref: EFO:0009481
xref: MESH:D010254
xref: NCI:C26843
is_a: DOID:2825 ! nose disease

[Term]
id: DOID:13520
name: neonatal infective mastitis
xref: ICD10CM:P39.0
xref: ICD9CM:771.5
is_a: DOID:10690 ! mastitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:13521
name: tetanus neonatorum
def: "A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion. (DO)" [https://en.wikipedia.org/wiki/Neonatal_tetanus "DO"]
synonym: "neonatal tetanus" EXACT []
xref: ICD10CM:A33
xref: ICD9CM:771.3
xref: NCI:C116814
is_a: DOID:11338 ! tetanus

[Term]
id: DOID:13523
name: loiasis
def: "A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. (DO)" [http://en.wikipedia.org/wiki/Loiasis "DO"]
synonym: "loaiases" EXACT []
synonym: "loaiasis" EXACT []
synonym: "loiases" EXACT []
xref: EFO:1000729
xref: GARD:3283
xref: ICD10CM:B74.3
xref: ICD9CM:125.2
xref: MESH:D008118
xref: NCI:C34784
is_a: DOID:1080 ! filariasis
is_a: DOID:37 ! skin disease
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:13533
name: osteopetrosis
def: "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. (DO)" [http://en.wikipedia.org/wiki/Osteopetrosis "DO"]
synonym: "Albers Schoenberg disease" EXACT []
synonym: "Albers Schonberg Disease" EXACT []
synonym: "Albers Schonberg disease, autosomal dominant" NARROW []
synonym: "Albers Schönberg disease" EXACT []
synonym: "Congenital Osteopetrosis" EXACT []
synonym: "High Bone Mass" RELATED []
synonym: "INFANTILE OSTEOPETROSIS" NARROW []
synonym: "marble bone" EXACT []
synonym: "Marble Bone Disease" EXACT []
synonym: "Marble Bones, Autosomal Dominant" EXACT []
synonym: "osteopetroses" EXACT []
synonym: "osteosclerosis fragilis" EXACT []
synonym: "osteosclerosis fragilis generalisata" EXACT []
xref: GARD:4155
xref: ICD10CM:Q78.2
xref: ICD9CM:756.52
xref: MESH:D010022
xref: MIM:PS259700
xref: MIM:PS607634
xref: NCI:C26840
xref: ORDO:667
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:13534
name: purulent labyrinthitis
def: "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. (DO)" [http://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh "DO"]
synonym: "acute suppurative labyrinthitis" RELATED []
synonym: "bacterial labyrinthitis" EXACT []
synonym: "suppurative labyrinthitis" EXACT []
xref: ICD9CM:386.33
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:1468 ! labyrinthitis
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:13538
name: cornea squamous cell carcinoma
synonym: "corneal epidermoid carcinoma" EXACT []
synonym: "squamous cell carcinoma of cornea" EXACT []
xref: NCI:C4552
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:6199 ! cornea cancer
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:13543
name: hyperparathyroidism
def: "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. (DO)" [http://en.wikipedia.org/wiki/Hyperparathyroidism "DO", http://ghr.nlm.nih.gov/glossary=hyperparathyroidism "DO"]
xref: EFO:0008506
xref: ICD10CM:E21.3
xref: ICD9CM:252.0
xref: MESH:D006961
xref: MIM:PS145000
xref: NCI:C48259
xref: ORDO:99879
is_a: DOID:11201 ! parathyroid gland disease

[Term]
id: DOID:13544
name: low tension glaucoma
def: "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision. (DO)" [https://eyewiki.aao.org/Primary_Open-Angle_Glaucoma "DO"]
synonym: "low tension glaucomas" EXACT []
xref: EFO:1001022
xref: ICD10CM:H40.12
xref: ICD9CM:365.12
xref: MESH:D057066
is_a: DOID:1067 ! open-angle glaucoma
is_a: DOID:1891 ! optic nerve disease

[Term]
id: DOID:13548
name: secondary Parkinson disease
def: "Conditions which feature clinical manifestations resembling primary Parkinson's disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" [MESH:D010302]
synonym: "atherosclerotic parkinsonism" EXACT []
synonym: "disorder presenting primarily with parkinsonism" EXACT []
synonym: "secondary Parkinson's disease" EXACT []
synonym: "secondary parkinsonism" EXACT []
synonym: "Secondary Vascular Parkinson's Disease" EXACT []
synonym: "Secondary Vascular Parkinson Disease" EXACT []
synonym: "symptomatic Parkinson's disease" EXACT []
synonym: "Symptomatic Parkinson Disease" EXACT []
synonym: "symptomatic parkinsonism" EXACT []
xref: EFO:1001175
xref: ICD10CM:G21
xref: ICD9CM:332.1
xref: MESH:D010302
xref: NCI:C34899
is_a: DOID:0080855 ! Parkinsonism
is_a: DOID:1289 ! neurodegenerative disease

[Term]
id: DOID:13549
name: interval angle-closure glaucoma
def: "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. (DO)" [https://en.wikipedia.org/wiki/Glaucoma "DO", https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma "DO", https://www.merckmanuals.com/professional/eye-disorders/glaucoma/angle-closure-glaucoma "DO"]
synonym: "intermittent angle-closure glaucoma" EXACT []
synonym: "prodromal angle closure glaucoma" EXACT []
synonym: "subacute angle-closure glaucoma" EXACT []
xref: ICD10CM:H40.23
xref: ICD9CM:365.21
is_a: DOID:1405 ! primary angle-closure glaucoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:1355
name: paranasal sinus lymphoma
synonym: "lymphoma of accessory sinus" EXACT []
synonym: "lymphoma of paranasal sinus" EXACT []
xref: NCI:C6068
xref: RDO:9004779
is_a: DOID:0050619 ! paranasal sinus cancer
is_a: DOID:0060058 ! lymphoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:13550
name: angle-closure glaucoma
def: "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis. (DO)" [https://en.wikipedia.org/wiki/Glaucoma "DO", https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma "DO"]
synonym: "ACG - angle-closure glaucoma" EXACT []
synonym: "angle closure glaucomas" EXACT []
synonym: "Closed-Angle Glaucoma" EXACT []
synonym: "closed-angle glaucomas" EXACT []
synonym: "Narrow-Angle Glaucoma" EXACT []
synonym: "Narrow-Angle Glaucomas" EXACT []
synonym: "narrow cleft glaucoma" EXACT []
synonym: "PCAG" RELATED []
synonym: "Primary Closed Angle Glaucoma" RELATED []
synonym: "primary open-angle glaucoma with narrow angles" EXACT []
synonym: "Uncompensated Glaucoma" EXACT []
synonym: "Uncompensated Glaucomas" EXACT []
synonym: "uncompensative glaucoma" EXACT []
synonym: "uncompensative glaucomas" EXACT []
xref: MESH:D015812
xref: NCI:C34639
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:13560
name: subserous uterine fibroid
def: "An uterine fibroid that is located adjacent to the outside of the uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22583728 "DO"]
synonym: "subserous leiomyoma of uterus" EXACT []
xref: ICD10CM:D25.2
xref: ICD9CM:218.2
is_a: DOID:13223 ! uterine fibroid
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13561
name: optic disk drusen
def: "Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated INTRACRANIAL HYPERTENSION) and visual field deficits. Drusen may also occur in the retina (see RETINAL DRUSEN). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)" [MESH:D015594]
synonym: "Drusen of optic disc" EXACT [ICD9CM_2006:377.21]
synonym: "Optic Disc Drusen" EXACT []
synonym: "Optic Disc Drusens" EXACT []
synonym: "Optic Disk Drusens" EXACT []
synonym: "Optic Nerve Drusen" EXACT []
synonym: "optic nerve head drusen" EXACT [SNOMEDCT_2005_07_31:33629003]
xref: ICD10CM:H47.32
xref: ICD9CM:377.21
xref: MESH:D015594
xref: RDO:0006905
is_a: DOID:1891 ! optic nerve disease

[Term]
id: DOID:13564
name: aspergillosis
alt_id: MIM:614079
def: "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Opportunistic/Aspergillosis/ "DO", http://www.mayoclinic.com/print/aspergillosis/DS00950/METHOD=print&DSECTION=all "DO"]
synonym: "Aspergilloses" EXACT []
synonym: "ASPERGILLOSIS, SUSCEPTIBILITY TO" RELATED []
synonym: "infection due to Aspergillus" EXACT []
xref: EFO:0007157
xref: GARD:5856
xref: ICD10CM:B44
xref: ICD9CM:117.3
xref: MESH:D001228
xref: NCI:C2886
is_a: DOID:1205 ! allergic disease
is_a: DOID:2473 ! opportunistic mycosis
is_a: DOID:9005724 ! Fungal Lung Diseases
is_a: DOID:9007316 ! Hyalohyphomycosis

[Term]
id: DOID:13565
name: neuroaspergillosis
def: "An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aspergillosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/17377359 "DO"]
synonym: "nervous system invasive aspergillosis" EXACT []
synonym: "neuroaspergilloses" EXACT []
xref: EFO:0007393
xref: MESH:D020953
is_a: DOID:13564 ! aspergillosis
is_a: DOID:9001177 ! Central Nervous System Fungal Infections
is_a: DOID:9006058 ! Invasive Fungal Infections

[Term]
id: DOID:13566
name: tibial collateral ligament bursitis
xref: ICD9CM:726.62
is_a: DOID:204 ! enthesopathy
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:1357
name: maxillary sinus cancer
def: "malignant tumor of the maxillary sinus" []
synonym: "cancer of maxillary sinus" EXACT []
synonym: "malignant neoplasm of antrum" EXACT []
synonym: "malignant tumor of the maxillary sinus" EXACT []
xref: ICD10CM:C31.0
xref: ICD9CM:160.2
xref: NCI:C3540
xref: NCI:C9332
is_a: DOID:0050619 ! paranasal sinus cancer
is_a: DOID:9001615 ! Maxillary Sinus Neoplasms

[Term]
id: DOID:13574
name: cortical senile cataract
def: "A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging. (DO)" [https://en.wikipedia.org/wiki/Cataract "DO"]
xref: ICD9CM:366.15
is_a: DOID:9669 ! senile cataract
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:13575
name: non-renal secondary hyperparathyroidism
xref: ICD9CM:252.02
is_a: DOID:12466 ! secondary hyperparathyroidism
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:13576
name: twin-to-twin transfusion syndrome
def: "A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced. (DO)" [https://www.nationwidechildrens.org/conditions/twin-to-twin-transfusion-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK563133/ "DO", MESH:D005330]
synonym: "Fetal blood loss from fetal hemorrhage into co-twin" EXACT [MTHICD9_2006:772.0]
synonym: "Fetal hemorrhage into co-twin" EXACT [SNOMEDCT_2005_07_31:56268004]
synonym: "fetal transfusion syndrome" EXACT []
synonym: "Fetal Transfusion Syndromes" EXACT []
synonym: "fetofetal transfusion" EXACT []
synonym: "Fetofetal Transfusions" EXACT []
synonym: "Fetofetal Transfusion Syndrome" EXACT []
synonym: "Fetofetal Transfusion Syndromes" EXACT []
synonym: "Intrauterine Cross Transfusion" EXACT []
synonym: "Intrauterine Cross-Transfusions" EXACT []
synonym: "twin-to-twin blood transfer" EXACT []
synonym: "twin to twin transfusion" EXACT []
synonym: "Twin-to-Twin Transfusion Syndromes" EXACT []
synonym: "Twin Transfusion" EXACT []
synonym: "twin transfusions" EXACT []
synonym: "twin transfusion syndrome" EXACT []
synonym: "twin transfusion syndromes" EXACT []
synonym: "twin twin transfusion syndrome" EXACT []
xref: EFO:1001221
xref: ICD10CM:O43.02
xref: ICD10CM:O43.029
xref: MESH:D005330
xref: MONDO:0019805
xref: NCI:C113824
is_a: DOID:11244 ! neonatal anemia

[Term]
id: DOID:13579
name: kwashiorkor
def: "A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK507876/ "DO"]
synonym: "Kwashiokor" EXACT []
synonym: "Kwashiorkors" EXACT []
synonym: "nutritional edema with dyspigmentation of skin and hair" EXACT []
synonym: "nutritional oedema with dyspigmentation of skin and/or hair" EXACT []
xref: EFO:1001009
xref: ICD10CM:E40
xref: ICD9CM:260
xref: MESH:D007732
is_a: DOID:11801 ! protein-energy malnutrition
is_a: DOID:225 ! syndrome
is_a: DOID:9004851 ! Severe Acute Malnutrition

[Term]
id: DOID:1358
name: maxillary sinus benign neoplasm
xref: EFO:1001035
is_a: DOID:1350 ! paranasal sinus benign neoplasm
is_a: DOID:9001615 ! Maxillary Sinus Neoplasms

[Term]
id: DOID:13580
name: cholestasis
def: "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum. (DO)" [https://en.wikipedia.org/wiki/Cholestasis "DO"]
synonym: "bile duct obstruction" EXACT []
synonym: "bile duct obstructions" EXACT []
synonym: "bile occlusion" EXACT []
synonym: "Biliary Stases" EXACT []
synonym: "biliary stasis" EXACT []
synonym: "cholestases" EXACT []
synonym: "obstruction of bile duct" EXACT []
xref: ICD10CM:K83.1
xref: ICD9CM:576.2
xref: MESH:D002779
xref: NCI:C83006
is_a: DOID:4138 ! bile duct disease

[Term]
id: DOID:13585
name: alveolar periostitis
def: "A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)" [MESH:D004368]
synonym: "Alveolalgia" EXACT []
synonym: "Alveolalgias" EXACT []
synonym: "Alveolar Osteitides" EXACT []
synonym: "Alveolar Osteitis" EXACT []
synonym: "Alveolar Periostitides" EXACT []
synonym: "Alveolitis of jaw" EXACT []
synonym: "Alveolitis Sicca Dolorosa" EXACT []
synonym: "Dry Socket" EXACT []
synonym: "Dry Sockets" EXACT []
synonym: "Dry tooth socket" EXACT []
xref: ICD10CM:M27.3
xref: ICD9CM:526.5
xref: MESH:D004368
is_a: DOID:403 ! mouth disease
is_a: DOID:9957 ! periostitis

[Term]
id: DOID:13589
name: female infertility of uterine origin
def: "A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year. (DO)" [https://en.wikipedia.org/wiki/Female_infertility "DO"]
xref: ICD10CM:N97.2
xref: ICD9CM:628.3
is_a: DOID:345 ! uterine disease
is_a: DOID:9007456 ! Female Infertility
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:13593
name: eclampsia
def: "A pre-eclampsia characterized by the presence of seizures. (DO)" [http://ghr.nlm.nih.gov/condition/preeclampsia "DO", https://www.ncbi.nlm.nih.gov/pubmed/24400024 "DO"]
synonym: "eclampsia in puerperium" EXACT []
synonym: "eclampsias" EXACT []
synonym: "postpartum eclampsia" EXACT []
xref: GARD:6316
xref: ICD10CM:O15
xref: ICD10CM:O15.9
xref: MESH:D004461
xref: NCI:C87167
is_a: DOID:10591 ! pre-eclampsia

[Term]
id: DOID:136
name: vaginal carcinosarcoma
def: "A vaginal carcinoma that has_material_basis_in connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12588439 "DO"]
synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" EXACT []
synonym: "vaginal malignant mixed mesodermal (mullerian) tumor" EXACT []
synonym: "vaginal malignant mixed Mullerian tumor" EXACT []
synonym: "vaginal mixed epithelial and mesenchymal tumor" EXACT []
xref: EFO:1000618
xref: NCI:C40274
xref: NCI:C40276
xref: NCI:C40278
is_a: DOID:0050918 ! vaginal carcinoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:1360
name: frontal sinus cancer
synonym: "malignant neoplasm of frontal sinus" EXACT []
synonym: "malignant tumor of frontal sinus" EXACT []
synonym: "malignant tumor of the frontal sinus" EXACT []
xref: ICD10CM:C31.2
xref: ICD9CM:160.4
xref: NCI:C3542
xref: RDO:9002359
is_a: DOID:0050619 ! paranasal sinus cancer
is_a: DOID:9006040 ! Sinonasal Neoplasms
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:13603
name: obstructive jaundice
def: "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction. (DO)" [https://en.wikipedia.org/wiki/Jaundice "DO"]
synonym: "cholestatic jaundice" EXACT []
synonym: "cholestatic jaundice syndrome" EXACT []
synonym: "mechanical jaundice" EXACT []
synonym: "obstructive hyperbilirubinemia" EXACT []
xref: EFO:1001068
xref: MESH:D041781
xref: NCI:C34742
is_a: DOID:13580 ! cholestasis
is_a: DOID:9004898 ! Jaundice

[Term]
id: DOID:13608
name: biliary atresia
alt_id: MIM:210500
def: "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Biliary_atresia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000215.htm "DO"]
synonym: "atresia of bile duct" EXACT []
synonym: "congenital biliary atresia" EXACT []
synonym: "Extrahepatic Biliary Atresia" EXACT []
synonym: "Extrahepatic Biliary Atresias" EXACT []
synonym: "Familial Extrahepatic Biliary Atresia" EXACT []
synonym: "Idiopathic Extrahepatic Biliary Atresia" EXACT []
xref: EFO:0004217
xref: GARD:12010
xref: ICD10CM:Q44.2
xref: ICD9CM:751.61
xref: MESH:D001656
xref: MONDO:0008867
xref: NCI:C34421
xref: ORDO:30391
is_a: DOID:13580 ! cholestasis
is_a: DOID:4138 ! bile duct disease
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:1361
name: frontal sinus benign neoplasm
synonym: "neoplasm of frontal sinus" EXACT []
synonym: "tumor of the frontal sinus" EXACT []
xref: NCI:C4419
is_a: DOID:1350 ! paranasal sinus benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:13619
name: extrahepatic cholestasis
def: "A cholestasis resulting from causes located_in bile ducts outside the liver. (DO)" [https://medlineplus.gov/ency/article/000215.htm "DO"]
synonym: "extrahepatic bile duct obstruction" EXACT []
synonym: "extrahepatic biliary stasis" EXACT []
synonym: "extrahepatic obstructive biliary disease" EXACT []
xref: EFO:1000933
xref: MESH:D001651
xref: NCI:C34420
is_a: DOID:13580 ! cholestasis

[Term]
id: DOID:1362
name: paranasal sinus sarcoma
def: "A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient "DO"]
synonym: "sarcoma of accessory sinus" EXACT []
xref: NCI:C6849
xref: RDO:9003607
is_a: DOID:0050619 ! paranasal sinus cancer
is_a: DOID:1115 ! sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:13620
name: patent foramen ovale
def: "A condition in which the FORAMEN OVALE in the ATRIAL SEPTUM fails to close shortly after birth. This results in abnormal communications between the two upper chambers of the heart. An isolated patent ovale foramen without other structural heart defects is usually of no hemodynamic significance." [MESH:D054092]
synonym: "Atrial septal defect within oval fossa" EXACT [SNOMEDCT_2005_07_31:204315000]
synonym: "Defect, Patent or persistent, ostium secundum" EXACT [MTHICD9_2006:745.5]
synonym: "Ostium secundum type atrial septal defect" EXACT []
synonym: "Patent Oval Foramen" EXACT []
synonym: "Persistent ostium secundum" EXACT [SNOMEDCT_2005_07_31:204318003]
xref: ICD10CM:Q21.12
xref: MESH:D054092
xref: NCI:C34619
xref: RDO:0007657
is_a: DOID:1882 ! atrial heart septal defect

[Term]
id: DOID:13622
name: campylobacteriosis
def: "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. (DO)" [http://en.wikipedia.org/wiki/Campylobacteriosis "DO", https://www.health.ny.gov/diseases/communicable/campylobacteriosis/fact_sheet.htm "DO"]
synonym: "Campylobacter Infection" EXACT []
synonym: "Campylobacter Infections" EXACT []
xref: EFO:0007190
xref: MESH:D002169
is_a: DOID:2326 ! gastroenteritis
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:13626
name: photokeratitis
xref: ICD10CM:H16.13
xref: ICD9CM:370.24
xref: NCI:C118750
is_a: DOID:4677 ! keratitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13628
name: favism
alt_id: MESH:C567533
alt_id: MIM:300908
def: "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. (DO)" [http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency "DO"]
synonym: "Favisms" EXACT []
synonym: "favism, susceptibility to" RELATED []
synonym: "G6pd a-" RELATED []
synonym: "G6PD AURES" RELATED []
synonym: "G6PD Gastonia" RELATED []
synonym: "G6PD Malaga" RELATED []
synonym: "G6pd Marion" RELATED []
synonym: "G6pd Mediterranean" RELATED []
synonym: "G6pd Minnesota" RELATED []
synonym: "G6PD Nara" RELATED []
synonym: "G6PD Santiago" RELATED []
synonym: "G6PD Santiago De Cuba" RELATED []
synonym: "G6PD Serres" RELATED []
synonym: "G6PD Sunderland" RELATED []
synonym: "nonspherocytic hemolytic anemia due to G6PD deficiency" EXACT []
xref: ICD10CM:D55.0
xref: MESH:D005236
xref: NCI:C34607
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia
is_a: DOID:2862 ! glucosephosphate dehydrogenase deficiency
is_a: DOID:9003189 ! Plant Poisoning
is_a: DOID:9006436 ! Foodborne Diseases

[Term]
id: DOID:13629
name: dentine erosion
xref: ICD9CM:521.32
xref: MONDO:0001762
is_a: DOID:2498 ! tooth erosion

[Term]
id: DOID:1363
name: ethmoid sinus cancer
synonym: "malignant neoplasm of ethmoidal sinus" EXACT []
synonym: "malignant tumor of ethmoidal sinus" EXACT [NCI2004_11_17:C3541]
synonym: "malignant tumor of ethmoid sinus" EXACT [SNOMEDCT_2005_07_31:363426009]
xref: ICD10CM:C31.1
xref: ICD9CM:160.3
xref: NCI:C3541
xref: RDO:9002361
is_a: DOID:0050619 ! paranasal sinus cancer
is_a: DOID:1364 ! ethmoidal sinus benign neoplasm

[Term]
id: DOID:13636
name: Fanconi anemia
def: "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. (DO)" [http://en.wikipedia.org/wiki/Fanconi_anemia "DO", http://ghr.nlm.nih.gov/condition/fanconi-anemia "DO", http://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1 "DO"]
synonym: "Fanconi's anaemia" EXACT []
synonym: "Fanconi's anemia" EXACT []
synonym: "Fanconi anaemia" EXACT []
synonym: "Fanconi Anemias" EXACT []
synonym: "Fanconi Hypoplastic Anemia" EXACT []
synonym: "Fanconi Pancytopenia" EXACT []
synonym: "Fanconi Panmyelopathy" EXACT []
xref: GARD:6425
xref: ICD10CM:D61.09
xref: MESH:D005199
xref: MIM:PS227650
xref: NCI:C62505
xref: ORDO:84
is_a: DOID:1342 ! congenital hypoplastic anemia
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders

[Term]
id: DOID:1364
name: ethmoidal sinus benign neoplasm
synonym: "neoplasm of ethmoidal sinus" EXACT []
synonym: "tumor of ethmoidal sinus" EXACT []
xref: NCI:C4416
is_a: DOID:1350 ! paranasal sinus benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:13641
name: exfoliation syndrome
alt_id: MIM:177650
def: "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157521/ "DO"]
synonym: "exfoliation glaucoma" EXACT []
synonym: "exfoliation syndromes" EXACT []
synonym: "exfoliation syndrome, susceptibility to" RELATED []
synonym: "Exfoliative Syndrome" EXACT []
synonym: "exfoliative syndromes" EXACT []
synonym: "Glaucoma Capsulare" EXACT []
synonym: "PEXG" EXACT []
synonym: "PEXS" EXACT []
synonym: "PSEUDOEXFOLIATION GLAUCOMA" EXACT []
synonym: "Pseudoexfoliation Of The Lens" EXACT []
synonym: "Pseudo Exfoliation Syndrome" EXACT []
synonym: "pseudoexfoliation syndrome" EXACT []
synonym: "pseudo-exfoliation syndromes" EXACT []
synonym: "pseudoexfoliation syndromes" EXACT []
synonym: "XFG" EXACT []
synonym: "XFS" EXACT []
xref: EFO:0004235
xref: ICD9CM:365.52
xref: MESH:D017889
xref: NCI:C129025
is_a: DOID:12571 ! phacogenic glaucoma
is_a: DOID:225 ! syndrome
is_a: DOID:240 ! iris disease

[Term]
id: DOID:13649
name: polyneuropathy in collagen vascular disease
xref: ICD9CM:357.1
xref: RDO:9004832
is_a: DOID:1389 ! polyneuropathy
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:13651
name: eversion of lacrimal punctum
xref: ICD10CM:H04.52
xref: ICD9CM:375.51
xref: RDO:9004731
is_a: DOID:1400 ! lacrimal apparatus disease
is_a: DOID:530 ! eyelid disease
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:13653
name: stenosis of lacrimal punctum
xref: ICD10CM:H04.56
xref: ICD9CM:375.52
is_a: DOID:1400 ! lacrimal apparatus disease
is_a: DOID:530 ! eyelid disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:13654
name: stenosis of lacrimal passage
synonym: "stenosis of lacrimal canaliculi" EXACT []
xref: ICD10CM:H04.54
xref: ICD9CM:375.53
is_a: DOID:1400 ! lacrimal apparatus disease
is_a: DOID:530 ! eyelid disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:13655
name: acquired tear duct stenosis
synonym: "acquired nasolacrimal duct stenosis" EXACT [SNOMEDCT_2005_07_31:193995004]
synonym: "Stenosis of nasolacrimal duct, acquired" EXACT [ICD9CM_2006:375.56]
xref: ICD10CM:H04.55
xref: ICD9CM:375.56
xref: RDO:9004732
is_a: DOID:1400 ! lacrimal apparatus disease
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:13656
name: gastrin secretion abnormality
xref: ICD9CM:251.5
is_a: DOID:1428 ! endocrine pancreas disease

[Term]
id: DOID:13658
name: infective urethral stricture
xref: ICD9CM:598.01
is_a: DOID:1829 ! urethral stricture

[Term]
id: DOID:13662
name: ulcer of anus and rectum
def: "anal and rectal ulcer" []
synonym: "anal and rectal ulcer" EXACT [SNOMEDCT_2005_07_31:197227009]
xref: ICD10CM:K62.6
xref: ICD9CM:569.41
is_a: DOID:1285 ! rectal disease

[Term]
id: DOID:13664
name: post-vaccinal encephalitis
synonym: "encephalitis following immunization procedures" EXACT []
synonym: "post-vaccinal encephalitides" EXACT []
synonym: "postvaccinal encephalitis" EXACT []
synonym: "post-vaccinal encephalomyelitides" EXACT []
synonym: "post vaccinal encephalomyelitis" EXACT []
synonym: "postvaccinal encephalomyelitis" EXACT []
synonym: "vaccination encephalitis" EXACT []
xref: ICD10CM:G04.02
is_a: DOID:639 ! acute disseminated encephalomyelitis
is_a: DOID:9588 ! encephalitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:13676
name: posterior scleritis
xref: ICD10CM:H15.03
xref: ICD9CM:379.07
is_a: DOID:13452 ! scleritis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13677
name: SAPHO syndrome
def: "A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8802951/ "DO"]
synonym: "acquired hyperostosis syndrome" EXACT []
synonym: "Acquired Hyperostosis Syndromes" EXACT []
synonym: "SAPHO syndromes" EXACT []
synonym: "synovitis, acne, pustlosis, hyperostosis, and osteomyelitis" EXACT []
synonym: "synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome" EXACT []
xref: EFO:1001164
xref: GARD:7606
xref: MESH:D020083
xref: NCI:C119049
xref: NCI:C84530
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:13687
name: chronic duodenal ileus
xref: ICD9CM:537.2
is_a: DOID:3558 ! duodenal obstruction

[Term]
id: DOID:13689
name: prostate calculus
synonym: "calculus of prostate" EXACT []
synonym: "prostatic lithiasis" EXACT []
synonym: "prostatic stone" EXACT []
synonym: "stone of prostate" EXACT []
xref: ICD10CM:N42.0
xref: ICD9CM:602.0
xref: NCI:C26936
is_a: DOID:47 ! prostate disease
is_a: DOID:9590 ! lower urinary tract calculus
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:13690
name: acute gonococcal cystitis
def: "An acute cystitis that is caused by gonorrhea. (DO)" [https://www.icd10data.com/ICD10CM/Codes/A00-B99/A50-A64/A54-/A54.01 "DO"]
synonym: "acute gonorrhea of bladder" EXACT []
synonym: "gonococcal cystitis" EXACT []
xref: ICD9CM:098.11
is_a: DOID:0080784 ! urinary tract infection
is_a: DOID:13148 ! acute cystitis
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:13691
name: dermoid cyst of skin
def: "A dermoid cyst that is located_in the skin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23488469 "DO"]
synonym: "skin dermoid" EXACT []
xref: NCI:C4632
is_a: DOID:2658 ! dermoid cyst
is_a: DOID:3165 ! skin benign neoplasm
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:137
name: vaginal squamous papilloma
def: "A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C6374 "DO"]
synonym: "squamous papilloma of vagina" EXACT [NCI2004_11_17:C6374]
xref: NCI:C6374
is_a: DOID:0060114 ! vaginal benign neoplasm

[Term]
id: DOID:13709
name: premature ejaculation
def: "The emission of SEMEN and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration." [MESH:D061686]
synonym: "Ejaculatio Praecox" EXACT []
synonym: "Ejaculatio Praecoxs" EXACT []
synonym: "Premature Ejaculations" EXACT []
xref: ICD10CM:F52.4
xref: ICD9CM:302.75
xref: MESH:D061686
xref: NCI:C94349
xref: RDO:0012099
is_a: DOID:0060043 ! sexual health disorder
is_a: DOID:10132 ! psychosexual disorder
is_a: DOID:1876 ! sexual dysfunction

[Term]
id: DOID:1371
name: uterine corpus adenomatoid tumor
def: "An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917104/ "DO"]
synonym: "uterine corpus adenomatoid tumour" EXACT []
synonym: "uterine corpus localised epithelial Mesothelioma" EXACT []
synonym: "uterine corpus localized epithelial mesothelioma" EXACT []
xref: NCI:C27250
xref: RDO:9004992
is_a: DOID:0060095 ! uterine benign neoplasm
is_a: DOID:746 ! adenomatoid tumor
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:13711
name: dental fluorosis
def: "A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21701193/ "DO"]
synonym: "Dental Fluoroses" EXACT []
synonym: "intrinsic enamel discolouration of fluorosis" EXACT []
synonym: "Mottled Enamel" EXACT []
synonym: "Mottled Enamels" EXACT []
synonym: "mottled teeth" EXACT []
synonym: "mottling of enamel" EXACT []
xref: EFO:1000892
xref: ICD10CM:K00.3
xref: ICD9CM:520.3
xref: MESH:D009050
xref: NCI:C85059
is_a: DOID:1091 ! tooth disease

[Term]
id: DOID:13714
name: anodontia
def: "A tooth disease that is characterized by complete absence of permanent teeth. (DO)" [https://rarediseases.info.nih.gov/diseases/5818/index "DO"]
synonym: "complete absence of teeth" EXACT []
synonym: "Developmental absence of tooth" EXACT []
synonym: "Familial Tooth Ageneses" EXACT []
synonym: "Familial Tooth Agenesis" EXACT []
synonym: "Hypodontia" EXACT []
synonym: "HYPODONTIA/OLIGODONTIA WITH OROFACIAL CLEFT" NARROW []
synonym: "Non-syndromic oligodontia" NARROW []
synonym: "PARTIAL CONGENITAL ABSENCE OF TEETH" NARROW []
synonym: "selective tooth agenesis with orofacial cleft" NARROW []
synonym: "selective tooth agenesis with or without orofacial cleft" EXACT []
synonym: "total anodontia of permanent and deciduous teeth" EXACT []
xref: GARD:5818
xref: ICD10CM:K00.0
xref: ICD9CM:520.0
xref: MESH:D000848
is_a: DOID:1091 ! tooth disease
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:13717
name: mature cataract
def: "A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging. (DO)" [https://en.wikipedia.org/wiki/Cataract "DO"]
synonym: "Total, mature senile cataract" EXACT [SNOMEDCT_2005_07_31:193590000]
synonym: "Total or mature cataract" EXACT [ICD9CM_2006:366.17]
xref: RDO:9004349
is_a: DOID:9669 ! senile cataract
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:13722
name: neuroschistosomiasis
def: "A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. (DO)" [https://www.ajtmh.org/view/journals/tpmd/76/5/article-p964.xml "DO", https://www.ncbi.nlm.nih.gov/pubmed/16138195 "DO", https://wwwnc.cdc.gov/eid/article/12/9/06-0113_article "DO"]
synonym: "central nervous system schistosomiasis" EXACT []
synonym: "Neuroschistosomiases" EXACT []
synonym: "Schistosomal Myelitis" EXACT []
synonym: "Schistosomal Myelopathies" EXACT []
synonym: "Schistosomal Myelopathy" EXACT []
synonym: "Schistosomal Myeloradiculopathies" EXACT []
synonym: "schistosomal myeloradiculopathy" EXACT []
xref: EFO:0007394
xref: MESH:D020818
is_a: DOID:1395 ! schistosomiasis
is_a: DOID:319 ! spinal cord disease
is_a: DOID:9000928 ! Central Nervous System Helminthiasis
is_a: DOID:936 ! brain disease

[Term]
id: DOID:13724
name: scurvy
alt_id: MIM:240400
def: "A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing. (DO)" [https://medlineplus.gov/ency/article/000355.htm "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567249/ "DO"]
synonym: "GULO, NONFUNCTIONAL" NARROW []
synonym: "GULOP" NARROW []
synonym: "Hypoascorbemia" EXACT []
synonym: "hypoascorbemias" EXACT []
synonym: "inability to synthesize vitamin C" NARROW []
synonym: "L-GULONOLACTONE OXIDASE, NONFUNCTIONAL" NARROW []
synonym: "Scorbutus" EXACT []
synonym: "scurvies" EXACT []
xref: EFO:1001169
xref: GARD:10406
xref: ICD10CM:E54
xref: MESH:D012614
xref: NCI:C35010
is_a: DOID:484 ! vascular hemostatic disease
is_a: DOID:9003737 ! Ascorbic Acid Deficiency

[Term]
id: DOID:13725
name: beriberi
def: "A thiamine deficiency disease that is characterized by being severe and chronic. (DO)" [https://en.wikipedia.org/wiki/Thiamine_deficiency "DO", https://medlineplus.gov/ency/article/000339.htm "DO", https://rarediseases.info.nih.gov/diseases/9948/beriberi "DO"]
xref: EFO:1000837
xref: GARD:9948
xref: ICD10CM:E51.1
xref: ICD9CM:265.0
xref: MESH:D001602
is_a: DOID:0070313 ! thiamine deficiency disease

[Term]
id: DOID:1373
name: endometrial stromal nodule
def: "An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma. (DO)" [http://www.pathologyoutlines.com/topic/uterusstromalnodule.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/26221551 "DO"]
xref: EFO:1000241
xref: ICDO:8930/0
xref: NCI:C4262
xref: RDO:9005002
is_a: DOID:0060095 ! uterine benign neoplasm
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:13730
name: malignant renovascular hypertension
xref: RDO:9002849
is_a: DOID:10177 ! malignant hypertensive renal disease
is_a: DOID:13731 ! malignant secondary hypertension
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13731
name: malignant secondary hypertension
xref: ICD9CM:405.0
xref: RDO:9002855
is_a: DOID:10824 ! malignant hypertension
is_a: DOID:11130 ! secondary hypertension
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13732
name: panophthalmitis
def: "Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." [MESH:D010202]
synonym: "Panophthalmitides" EXACT []
xref: EFO:1001081
xref: ICD9CM:360.02
xref: MESH:D010202
is_a: DOID:13140 ! suppurative uveitis
is_a: DOID:13452 ! scleritis
is_a: DOID:9724 ! purulent endophthalmitis

[Term]
id: DOID:13736
name: uterine inflammatory disease
def: "A uterine disease that is characterized by inflammation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25153777 "DO"]
synonym: "inflammatory disease of the uterus" EXACT []
xref: EFO:0009572
xref: ICD10CM:N71.9
xref: ICD9CM:615.9
is_a: DOID:1003 ! pelvic inflammatory disease
is_a: DOID:345 ! uterine disease
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:13738
name: hepatic infarction
synonym: "hepatic infarct" EXACT []
synonym: "infarct of liver" EXACT []
synonym: "liver infarct" EXACT []
synonym: "liver infarction" EXACT []
xref: ICD10CM:K76.3
xref: ICD9CM:573.4
xref: MESH:D000081011
is_a: DOID:272 ! hepatic vascular disease
is_a: DOID:9005600 ! Infarction
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13739
name: nutmeg liver
synonym: "chronic passive congestion of liver" EXACT []
xref: ICD10CM:K76.1
xref: ICD9CM:573.0
xref: RDO:9002803
is_a: DOID:272 ! hepatic vascular disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13742
name: neurofibroma of spinal cord
synonym: "SPINAL NEUROFIBROMA" EXACT []
xref: NCI:C5145
is_a: DOID:5612 ! spinal cancer
is_a: DOID:962 ! neurofibroma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:13743
name: spinal cord lipoma
def: "A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord. (DO)" [http://neurosurgery.ucla.edu/spinal-cord-lipomas-lipomyelomeningoceles "DO"]
synonym: "lipoma of spinal cord" EXACT []
xref: NCI:C4619
is_a: DOID:6293 ! central nervous system lipoma
is_a: DOID:9006391 ! Spinal Cord Neoplasms
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:1375
name: neonatal urinary tract infectious disease
synonym: "urinary tract infection of newborn" EXACT []
xref: ICD10CM:P39.3
xref: ICD9CM:771.82
is_a: DOID:18 ! urinary system disease

[Term]
id: DOID:13756
name: epiphora due to insufficient drainage
xref: ICD10CM:H04.22
xref: ICD9CM:375.22
is_a: DOID:13757 ! excessive tearing
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:13757
name: excessive tearing
synonym: "epiphora" EXACT []
synonym: "excessive tear production" EXACT []
synonym: "watering eye" EXACT []
xref: ICD10CM:H04.2
xref: ICD9CM:375.2
xref: NCI:C50552
is_a: DOID:1400 ! lacrimal apparatus disease
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:13760
name: Pthirus pubis infestation
def: "A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. (DO)" [http://www.cdc.gov/lice/pubic/disease.html "DO"]
synonym: "crabs" EXACT []
synonym: "infestation by Phthirus pubis" EXACT []
synonym: "Pediculosis pubis" EXACT []
synonym: "Pediculus pubis" EXACT []
synonym: "Phthiriasis pubis" EXACT []
synonym: "Phthirus/pediculus pubis - pubic lice - crabs" EXACT []
synonym: "Phthirus pubis" EXACT []
xref: ICD10CM:B85.3
xref: ICD9CM:132.2
xref: NCI:C35777
is_a: DOID:5502 ! lice infestation
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:13767
name: clonorchiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. (DO)" [http://en.wikipedia.org/wiki/Clonorchiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Clonorchiasis.htm "DO"]
synonym: "clonorchiases" EXACT []
synonym: "oriental liver fluke disease" EXACT []
xref: EFO:0007210
xref: ICD10CM:B66.1
xref: ICD9CM:121.1
xref: MESH:D003003
is_a: DOID:409 ! liver disease
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:888 ! fasciolopsiasis

[Term]
id: DOID:13768
name: opisthorchiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and cholangiocarcinoma. (DO)" [http://en.wikipedia.org/wiki/Opisthorchiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm "DO"]
synonym: "infection by Opisthorchis" EXACT []
synonym: "opisthorchiases" EXACT []
xref: EFO:0007404
xref: GARD:9746
xref: ICD10CM:B66.0
xref: ICD9CM:121.0
xref: MESH:D009889
is_a: DOID:0060262 ! gallbladder disease
is_a: DOID:26 ! pancreas disease
is_a: DOID:409 ! liver disease
is_a: DOID:888 ! fasciolopsiasis

[Term]
id: DOID:13774
name: Addison's disease
alt_id: MIM:240200
def: "An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. (DO)" [http://en.wikipedia.org/wiki/Addison%27s_disease "DO"]
synonym: "Addison disease" EXACT []
synonym: "Addison disease, chronic adrenal insufficiency" EXACT []
synonym: "Addisons disease" EXACT []
synonym: "adrenal aplasia" EXACT []
synonym: "adrenal hypoplasia" EXACT []
synonym: "familial hypoadrenocorticism" EXACT []
synonym: "primary adrenal insufficiency" EXACT []
synonym: "primary adrenocortical insufficiencies" EXACT []
synonym: "primary adrenocortical insufficiency" EXACT []
synonym: "primary hypoadrenalism" EXACT []
synonym: "primary hypoadrenalisms" EXACT []
xref: GARD:5740
xref: ICD10CM:E27.1
xref: MESH:D000224
xref: NCI:C26689
xref: ORDO:85138
is_a: DOID:10493 ! adrenal cortical hypofunction
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9008622 ! Adrenal Insufficiency

[Term]
id: DOID:13775
name: plantar wart
def: "A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. (DO)" [http://en.wikipedia.org/wiki/Plantar_wart "DO"]
synonym: "verruca plantaris" EXACT []
xref: EFO:1002023
xref: ICD10CM:B07.0
xref: ICD9CM:078.12
xref: NCI:C26913
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:13777
name: epidermodysplasia verruciformis
def: "A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. (DO)" [http://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis "DO"]
synonym: "EV" EXACT []
synonym: "Lewandowsky Lutz disease" EXACT []
synonym: "Lewandowsky-Lutz syndrome" EXACT []
synonym: "Lutz-Lewandowsky epidermodysplasia verruciformis" EXACT []
xref: GARD:6357
xref: MESH:D004819
xref: MIM:PS226400
xref: NCI:C126877
xref: ORDO:302
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3178 ! skin papilloma
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:13778
name: chancroid
def: "A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers. (DO)" [http://en.wikipedia.org/wiki/Chancroid "DO"]
synonym: "Chancroids" EXACT []
synonym: "Ulcus molle, skin" EXACT []
xref: GARD:9522
xref: ICD10CM:A57
xref: ICD9CM:099.0
xref: MESH:D002602
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:37 ! skin disease
is_a: DOID:9000109 ! Haemophilus Infections
is_a: DOID:9006980 ! Bacterial Sexually Transmitted Diseases

[Term]
id: DOID:13781
name: hypermobility syndrome
synonym: "benign joint hypermobility" EXACT []
xref: ICD10CM:M35.7
xref: ICD9CM:728.5
is_a: DOID:225 ! syndrome
is_a: DOID:381 ! arthropathy
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:13787
name: localized anterior staphyloma
synonym: "localised anterior staphyloma" EXACT []
xref: ICD10CM:H15.82
xref: ICD9CM:379.14
is_a: DOID:11595 ! scleral staphyloma

[Term]
id: DOID:13788
name: equatorial staphyloma
xref: ICD10CM:H15.81
xref: ICD9CM:379.13
is_a: DOID:11595 ! scleral staphyloma

[Term]
id: DOID:13789
name: staphyloma posticum
xref: ICD10CM:H15.83
xref: ICD9CM:379.12
is_a: DOID:11595 ! scleral staphyloma

[Term]
id: DOID:13790
name: acute tympanitis
synonym: "acute myringitis" EXACT []
xref: ICD10CM:H73.0
xref: ICD9CM:384.00
is_a: DOID:5782 ! tympanic membrane disease

[Term]
id: DOID:13791
name: myringitis bullosa hemorrhagica
def: "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. (DO)" [https://www.nlm.nih.gov/medlineplus/ency/article/001369.htm "DO"]
synonym: "bullous myringitis" EXACT []
xref: ICD10CM:H73.01
xref: ICD9CM:384.01
is_a: DOID:5782 ! tympanic membrane disease

[Term]
id: DOID:13794
name: anterior scleritis
xref: ICD10CM:H15.01
xref: ICD9CM:379.03
is_a: DOID:13452 ! scleritis

[Term]
id: DOID:13799
name: female breast central part cancer
def: "A female breast cancer that is located_in the center of the breast. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26060127 "DO"]
synonym: "malignant neoplasm of central part of female breast" EXACT []
synonym: "malignant neoplasm of central portion of female breast" EXACT []
xref: ICD10CM:C50.11
xref: ICD9CM:174.1
xref: RDO:9001785
is_a: DOID:0050671 ! female breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:138
name: vaginal squamous tumor
def: "A vaginal cancer that has_material_basis_in squamous tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23057430 "DO"]
xref: NCI:C40242
xref: RDO:9004609
is_a: DOID:119 ! vaginal cancer
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:1380
name: endometrial cancer
def: "A uterine cancer that is located_in tissues lining the uterus. (DO)" [http://www.cancer.gov/dictionary?CdrID=444987 "DO"]
synonym: "cancer of endometrium" EXACT []
synonym: "cancer of the endometrium" EXACT []
synonym: "endometrial Ca" EXACT []
synonym: "endometrial cancers" EXACT []
synonym: "endometrial cancer, somatic" NARROW []
synonym: "endometrial neoplasm" EXACT []
synonym: "endometrium cancer" EXACT []
synonym: "endometrium cancers" EXACT []
synonym: "malignant endometrial neoplasm" EXACT []
synonym: "malignant neoplasm of endometrium" EXACT []
synonym: "MSH3-RELATED CONDITION" BROAD []
synonym: "neoplasm of endometrium" EXACT []
synonym: "primary malignant neoplasm of endometrium" EXACT []
synonym: "tumor of endometrium" EXACT []
xref: EFO:0004230
xref: GARD:11981
xref: ICD10CM:C54.1
xref: MIM:608089
xref: NCI:C27815
xref: NCI:C3012
is_a: DOID:289 ! endometriosis
is_a: DOID:363 ! uterine cancer
is_a: DOID:9007715 ! Endometrial Neoplasms
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:13800
name: inclusion conjunctivitis
def: "A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. (DO)" [https://www.visualdx.com/visualdx/diagnosis/inclusion+conjunctivitis?diagnosisId=54853&moduleId=101 "DO"]
synonym: "adult inclusion conjunctivitis" EXACT []
synonym: "chlamydial conjunctivitis" EXACT []
synonym: "Inclusion Blennorrhea" EXACT []
synonym: "inclusion blennorrheas" EXACT []
synonym: "inclusion blennorrhoea" EXACT []
synonym: "inclusion blenorrhea" EXACT []
synonym: "inclusion conjunctivitides" EXACT []
synonym: "paratrachoma" RELATED []
xref: EFO:0007324
xref: GARD:6777
xref: ICD10CM:A74.0
xref: ICD9CM:077.0
xref: MESH:D003235
is_a: DOID:0050339 ! commensal bacterial infectious disease
is_a: DOID:11263 ! chlamydia
is_a: DOID:9700 ! bacterial conjunctivitis

[Term]
id: DOID:13801
name: pharyngoconjunctival fever
def: "A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache. (DO)" [http://en.wikipedia.org/wiki/Pharyngoconjunctival_fever "DO"]
synonym: "adenoviral pharyngoconjunctivitis" EXACT []
synonym: "human adenovirus infection" EXACT []
synonym: "human adenovirus infections" EXACT []
synonym: "pharyngo conjunctival fever" EXACT []
xref: EFO:0007434
xref: ICD9CM:077.2
xref: MESH:D000258
xref: NCI:C34924
is_a: DOID:4251 ! conjunctival disease
is_a: DOID:9000873 ! Adenoviridae Infections

[Term]
id: DOID:13809
name: familial combined hyperlipidemia
alt_id: MIM:144250
def: "A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1." [MESH:D006950]
synonym: "familial combined hyperlipidemias" EXACT []
synonym: "familial multiple lipoprotein-type hyperlipidemia" EXACT []
synonym: "FCHL" EXACT []
synonym: "hyperbetalipoproteinemia with prebetalipoproteinemia" EXACT []
synonym: "HYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO" RELATED []
synonym: "mixed hyperlipidaemia" EXACT []
synonym: "multiple lipoprotein-type hyperlipidemia" EXACT []
synonym: "multiple lipoprotein-type hyperlipidemias" EXACT []
synonym: "type IIb hyperlipoproteinemia" EXACT [NCI2004_11_17:C34708]
xref: EFO:0000492
xref: ICD10CM:E78.49
xref: MESH:D006950
xref: NCI:C35637
is_a: DOID:1168 ! familial hyperlipidemia
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:1381
name: Fox-Fordyce disease
def: "A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746034/ "DO"]
synonym: "Apocrine Miliaria" EXACT []
synonym: "Fox Fordyce Syndrome" EXACT []
xref: EFO:1000703
xref: GARD:6462
xref: ICD10CM:L75.2
xref: ICD9CM:705.82
xref: MESH:D005588
xref: NCI:C84716
is_a: DOID:1382 ! miliaria
is_a: DOID:1383 ! sweat gland disease

[Term]
id: DOID:13810
name: familial hypercholesterolemia
alt_id: OMIA:000499
def: "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. (DO)" [http://en.wikipedia.org/wiki/Familial_hypercholesterolemia "DO"]
synonym: "familial hyperbetalipoproteinaemia" EXACT []
synonym: "familial hypercholesteremia" EXACT []
synonym: "familial hypercholesterolemias" EXACT []
synonym: "FH" EXACT []
synonym: "FHC" EXACT []
synonym: "FHCL1" EXACT []
synonym: "Fredrickson type IIa hyperlipoproteinemia" EXACT []
synonym: "Fredrickson type IIa lipidaemia" EXACT []
synonym: "hyperbetalipoproteinemia" EXACT []
synonym: "HYPERCHOLESTEROLEMIA, FAMILIAL, 1" EXACT []
synonym: "HYPERCHOLESTEROLEMIC XANTHOMATOSES, FAMILIAL" EXACT []
synonym: "HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL" EXACT []
synonym: "LDL RECEPTOR DISORDER" NARROW []
synonym: "LDLR-RELATED CONDITION" EXACT []
synonym: "type II hyperlipidemia" EXACT []
xref: EFO:0004911
xref: GARD:10416
xref: ICD10CM:E78.01
xref: MIM:143890
xref: MIM:PS143890
xref: NCI:C34704
xref: ORDO:406
is_a: DOID:9000808 ! Hypercholesterolemia
is_a: DOID:9005519 ! Hyperlipoproteinemia Type II

[Term]
id: DOID:13811
name: chronic subinvolution of uterus
def: "A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18856846 "DO"]
xref: ICD9CM:621.1
is_a: DOID:345 ! uterine disease
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:13812
name: adhesions of uterus
def: "A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26700995 "DO"]
synonym: "band of uterus" EXACT []
synonym: "intrauterine adhesions" EXACT []
synonym: "intrauterine synechiae" EXACT []
is_a: DOID:345 ! uterine disease

[Term]
id: DOID:13814
name: hypoglossal nerve disease
def: "A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve). (DO)" [https://www.merckmanuals.com/home/brain\,-spinal-cord\,-and-nerve-disorders/cranial-nerve-disorders/hypoglossal-nerve-disorders "DO", MESH:D020437]
synonym: "cranial nerve XII diseases" EXACT []
synonym: "cranial nerve XII disorders" EXACT []
synonym: "disorder of 12th nerve" EXACT []
synonym: "disorder of hypoglossal [12th] nerve" EXACT []
synonym: "disorder of hypoglossal nerve" EXACT []
synonym: "disorder of XII nerve" EXACT []
synonym: "hypoglossal nerve diseases" EXACT []
synonym: "Hypoglossal Nerve Palsies" EXACT []
synonym: "Hypoglossal Nerve Palsy" EXACT []
synonym: "Hypoglossal Neuralgia" EXACT []
synonym: "Hypoglossal Neuralgias" EXACT []
synonym: "Hypoglossal Neuropathies" EXACT []
synonym: "Hypoglossal Neuropathy" EXACT []
synonym: "twelfth cranial nerve diseases" EXACT []
synonym: "twelfth cranial nerve disorder" EXACT []
xref: ICD10CM:G52.3
xref: ICD9CM:352.5
xref: MESH:D020437
xref: NCI:C26954
is_a: DOID:3418 ! glossopharyngeal nerve disease
is_a: DOID:5656 ! cranial nerve disease

[Term]
id: DOID:13819
name: lymphogranuloma venereum
def: "A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. (DO)" [http://en.wikipedia.org/wiki/Lymphogranuloma_venereum "DO"]
synonym: "climatic or tropical bubo" EXACT []
synonym: "Durand-Nicolas-Favre disease" EXACT []
synonym: "lymphogranuloma inguinale" EXACT []
synonym: "poradenitis inguinale" EXACT []
synonym: "strumous bubo" EXACT []
xref: EFO:0007353
xref: GARD:9545
xref: ICD10CM:A55
xref: ICD9CM:099.1
xref: MESH:D008219
xref: NCI:C26822
is_a: DOID:11263 ! chlamydia
is_a: DOID:9063 ! Ritter's disease
is_a: DOID:9113 ! granuloma inguinale

[Term]
id: DOID:1382
name: miliaria
def: "A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts. (DO)" [http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html "DO", https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/30725861 "DO"]
synonym: "eccrine miliaria" EXACT []
synonym: "heat rash" EXACT []
synonym: "sweat rash" EXACT []
xref: EFO:1000734
xref: ICD10CM:L74.3
xref: MESH:D008883
xref: NCI:C34820
is_a: DOID:1383 ! sweat gland disease

[Term]
id: DOID:13822
name: tetanic cataract
def: "A cataract resulting from hypocalcemia. (DO)" [https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35068 "DO"]
synonym: "hypocalcaemic cataract" EXACT []
xref: ICD9CM:366.42
xref: NCI:C35068
is_a: DOID:83 ! cataract
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:13823
name: parasitic eyelid infestation
synonym: "parasitic infestation of eyelid" EXACT []
xref: ICD9CM:373.6
is_a: DOID:9004432 ! Parasitic Eye Infections
is_a: DOID:9423 ! blepharitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13825
name: squamous blepharitis
xref: ICD10CM:H01.02
xref: ICD9CM:373.02
is_a: DOID:9423 ! blepharitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:1383
name: sweat gland disease
def: "A skin disease located_in the sweat glands. (DO)" [https://meshb.nlm.nih.gov/record/ui?ui=D013543 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9448199 "DO"]
synonym: "apocrine sweat gland disease" NARROW []
synonym: "sweat gland diseases" EXACT []
xref: EFO:1000772
xref: EFO:1002046
xref: ICD10CM:L74.9
xref: ICD9CM:705.9
xref: MESH:D013543
is_a: DOID:37 ! skin disease

[Term]
id: DOID:13832
name: patent ductus arteriosus
alt_id: MIM:607411
def: "A congenital heart defect characterized by the persistent opening of fetal DUCTUS ARTERIOSUS that connects the PULMONARY ARTERY to the descending aorta (AORTA, DESCENDING) allowing unoxygenated blood to bypass the lung and flow to the PLACENTA. Normally, the ductus is closed shortly after birth." [MESH:D004374]
synonym: "patency of the ductus arteriosus" EXACT []
synonym: "PATENT DUCTUS ARTERIOSUS 1" EXACT []
synonym: "patent ductus arteriosus familial" EXACT []
synonym: "patent ductus botalli" EXACT []
synonym: "PDA" EXACT []
synonym: "PDA1" EXACT []
xref: GARD:7342
xref: ICD10CM:Q25.0
xref: ICD9CM:747.0
xref: MESH:D004374
xref: MIM:PS607411
xref: NCI:C84492
xref: ORDO:95485
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:13839
name: extrapyramidal and movement disease
xref: ICD10CM:G25.9
xref: ICD9CM:333.90
xref: RDO:9004048
is_a: DOID:480 ! movement disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:1386
name: abetalipoproteinemia
alt_id: MIM:200100
def: "A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. (DO)" [http://en.wikipedia.org/wiki/Abetalipoproteinemia "DO", http://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=14 "DO"]
synonym: "ABL" EXACT []
synonym: "acanthocytoses" EXACT []
synonym: "acanthocytosis" EXACT []
synonym: "Bassen Kornzweig Disease" EXACT []
synonym: "Bassen Kornzweig Syndrome" EXACT []
synonym: "Betalipoprotein Deficiency Disease" EXACT []
synonym: "betalipoprotein deficiency diseases" EXACT []
synonym: "microsomal triglyceride transfer protein deficiency" EXACT []
synonym: "microsomal triglyceride transfer protein deficiency disease" EXACT []
synonym: "MTP deficiency" EXACT []
synonym: "MTTP-RELATED CONDITION" EXACT []
xref: GARD:5
xref: MESH:D000012
xref: NCI:C84525
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1387 ! hypolipoproteinemia
is_a: DOID:1390 ! hypobetalipoproteinemia

[Term]
id: DOID:13861
name: scleroperikeratitis
def: "A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. Scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. (DO)" [https://www.wikidata.org/wiki/Q18554619 "DO"]
synonym: "scleritis with corneal involvement" EXACT []
xref: ICD10CM:H15.04
xref: ICD9CM:379.05
is_a: DOID:13452 ! scleritis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13862
name: acute closed-angle glaucoma
def: "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening further optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. (DO)" [https://en.wikipedia.org/wiki/Glaucoma "DO", https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma "DO"]
synonym: "acute angle-closure glaucoma" EXACT []
xref: ICD10CM:H40.21
xref: ICD9CM:365.22
is_a: DOID:1405 ! primary angle-closure glaucoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:13864
name: trochlear nerve disease
def: "Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS." [MESH:D020432]
synonym: "cranial nerve IV diseases" EXACT []
synonym: "disorder of trochlear nerve" EXACT []
synonym: "Fourth Cranial Nerve Diseases" EXACT []
synonym: "Neurogenic Superior Oblique Palsy" EXACT []
synonym: "superior oblique muscle innervation disorder" EXACT []
synonym: "Superior Oblique Myokymia" EXACT []
synonym: "Superior Oblique Myokymias" EXACT []
synonym: "trochlear nerve diseases" EXACT []
synonym: "Trochlear Nerve Disorder" EXACT []
synonym: "Trochlear Nerve Disorders" EXACT []
synonym: "Trochlear Neuropathies" EXACT []
synonym: "trochlear neuropathy" EXACT []
xref: EFO:1001220
xref: ICD10CM:H49.1
xref: ICD9CM:378.53
xref: MESH:D020432
xref: NCI:C180994
xref: NCI:C78395
is_a: DOID:5656 ! cranial nerve disease

[Term]
id: DOID:13865
name: facial neuralgia
def: "Neuralgic syndromes which feature chronic or recurrent FACIAL PAIN as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions." [MESH:D005156]
synonym: "Craniofacial Pain Syndrome" EXACT []
synonym: "craniofacial pain syndromes" EXACT []
synonym: "Facial Neuralgias" EXACT []
synonym: "Facial Pain Syndrome" EXACT []
synonym: "Facial Pain Syndromes" EXACT []
synonym: "Myofacial Pain Syndrome" EXACT []
synonym: "Myofacial Pain Syndromes" EXACT []
synonym: "Sphenopalatine Neuralgia" EXACT []
synonym: "sphenopalatine neuralgias" EXACT []
xref: EFO:0009380
xref: MESH:D005156
is_a: DOID:1756 ! facial nerve disease

[Term]
id: DOID:13866
name: multiple cranial nerve palsy
synonym: "multiple cranial nerve palsies" EXACT []
xref: ICD10CM:G52.7
xref: ICD9CM:352.6
is_a: DOID:3418 ! glossopharyngeal nerve disease
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:13867
name: focal labyrinthitis
def: "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. (DO)" [http://books.google.com/books?id=K6IRAAAAYAAJ&pg=PA934&lpg#v=onepage&q=&f=false "DO"]
synonym: "circumscribed labyrinthitis" EXACT []
xref: ICD9CM:386.32
is_a: DOID:1468 ! labyrinthitis
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:13868
name: hypoactive sexual desire disorder
def: "Lack or loss of sexual desire." []
synonym: "Lack or loss of sexual desire" EXACT [SNOMEDCT_2005_07_31:192464008]
xref: ICD10CM:F52.0
xref: ICD9CM:302.71
xref: NCI:C94337
xref: RDO:9003227
is_a: DOID:10132 ! psychosexual disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:1387
name: hypolipoproteinemia
def: "A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood. (DO)" [https://en.wikipedia.org/wiki/Hypolipoproteinemia "DO", https://rarediseases.info.nih.gov/diseases/8394/hypolipoproteinemia "DO"]
synonym: "hypolipoproteinaemia" EXACT []
synonym: "hypolipoproteinemias" EXACT []
synonym: "hypoprebetalipoproteinemia" EXACT []
synonym: "liipoprotein deficiencies" RELATED []
synonym: "Lipoprotein deficiencies" RELATED []
xref: GARD:8394
xref: ICD9CM:272.5
xref: MESH:D007009
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9003370 ! Dyslipidemias

[Term]
id: DOID:1388
name: Tangier disease
alt_id: MIM:205400
def: "A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10431236/ "DO"]
synonym: "A-alphalipoprotein neuropathies" EXACT []
synonym: "A-alphalipoprotein Neuropathy" EXACT []
synonym: "ABCA1 POLYMORPHISM" RELATED []
synonym: "ABCA1-RELATED DISORDER" BROAD []
synonym: "Alpha High Density Lipoprotein Deficiency Disease" EXACT []
synonym: "analphalipoproteinemia" EXACT []
synonym: "Analphalipoproteinemias" EXACT []
synonym: "Cholesterol Thesaurismoses" EXACT []
synonym: "Cholesterol Thesaurismosis" EXACT []
synonym: "familial alpha-lipoprotein deficiency" EXACT []
synonym: "familial high density lipoprotein deficiency" EXACT []
synonym: "familial hypoalphalipoproteinemia" EXACT []
synonym: "HDLDT1" EXACT []
synonym: "High Density Lipoprotein Deficiency, Tangier Type" EXACT []
synonym: "High Density Lipoprotein Deficiency, Type 1" EXACT []
synonym: "High Density Lipoprotein Deficiency, Type I" EXACT []
synonym: "Neuropathy of Tangier Disease" EXACT []
synonym: "Tangier disease neuropathy" EXACT []
synonym: "Tangier hereditary neuropathy" EXACT []
synonym: "TGD" EXACT []
xref: GARD:7731
xref: MESH:D013631
xref: NCI:C85182
xref: ORDO:31150
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:9002117 ! Hypoalphalipoproteinemias

[Term]
id: DOID:13884
name: sick sinus syndrome
def: "A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects." [MESH:D012804]
synonym: "Dysfunctions, Sinus Node" EXACT []
synonym: "Sick Sinus Node Syndrome" EXACT []
synonym: "Sinus Node Disease" EXACT []
synonym: "Sinus Node Diseases" EXACT []
synonym: "Sinus Node Dysfunction" EXACT []
synonym: "sinus node infection" EXACT []
xref: EFO:0004275
xref: ICD10CM:I49.5
xref: MESH:D012804
xref: MIM:PS608567
xref: MONDO:0001823
xref: NCI:C62243
xref: NCI:C62244
xref: ORDO:166282
is_a: DOID:0050824 ! sinoatrial node disease
is_a: DOID:225 ! syndrome
is_a: DOID:9002907 ! Sinus Arrhythmia
is_a: DOID:9003163 ! Heart Block

[Term]
id: DOID:1389
name: polyneuropathy
alt_id: OMIA:001292
def: "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain. (DO)" [https://en.wikipedia.org/wiki/Polyneuropathy "DO", https://www.virginiamason.org/polyneuropathy "DO"]
synonym: "acquired polyneuropathies" EXACT []
synonym: "Acquired Polyneuropathy" EXACT []
synonym: "critical illness polyneuropathies" EXACT []
synonym: "Critical Illness Polyneuropathy" EXACT []
synonym: "Familial Polyneuropathies" EXACT []
synonym: "Familial Polyneuropathy" EXACT []
synonym: "Inherited Polyneuropathies" EXACT []
synonym: "Inherited Polyneuropathy" EXACT []
synonym: "motor polyneuropathies" EXACT []
synonym: "motor polyneuropathy" EXACT []
synonym: "multifocal motor neuropathy" EXACT []
synonym: "polyneuropathies" EXACT []
xref: EFO:0009562
xref: MESH:D011115
xref: NCI:C26951
is_a: DOID:574 ! peripheral nervous system disease

[Term]
id: DOID:13891
name: bird fancier's lung
def: "An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1841781/pdf/brmedj02140-0025.pdf "DO"]
synonym: "avian hypersensitivity pneumonitides" EXACT []
synonym: "Avian Hypersensitivity Pneumonitis" EXACT []
synonym: "bird breeder's lung" EXACT []
synonym: "Bird Fancier's Lungs" EXACT []
synonym: "Bird Fancier Lung" EXACT []
synonym: "Bird Fanciers Lung" EXACT []
synonym: "Budgerigar Fancier's Lung" EXACT []
synonym: "Budgerigar Fancier's Lungs" EXACT []
synonym: "Budgerigar Fancier Lung" EXACT []
synonym: "Budgerigar Fanciers Lung" EXACT []
synonym: "Pigeon Breeder's Lung" EXACT []
synonym: "Pigeon Breeder Lung" EXACT []
synonym: "pigeon breeders lung" EXACT []
synonym: "poultry worker's lung" EXACT []
xref: EFO:0007170
xref: ICD10CM:J67.2
xref: ICD9CM:495.2
xref: MESH:D001716
xref: NCI:C34425
is_a: DOID:841 ! extrinsic allergic alveolitis
is_a: DOID:9005463 ! Occupational Diseases

[Term]
id: DOID:139
name: squamous cell papilloma
synonym: "epidermoid papilloma" EXACT []
synonym: "squamous cell papillomas" EXACT []
xref: EFO:1001970
xref: ICDO:8052/0
xref: NCI:C3712
xref: RDO:9003790
is_a: DOID:2615 ! papilloma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:1390
name: hypobetalipoproteinemia
def: "A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats. (DO)" [https://en.wikipedia.org/wiki/Hypobetalipoproteinemia "DO", https://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia "DO", https://www.ncbi.nlm.nih.gov/pubmed/15818469 "DO"]
synonym: "familial hypobetalipoproteinemia" EXACT []
synonym: "FHBL" EXACT []
synonym: "hypo beta lipoproteinemia" EXACT []
synonym: "hypo beta lipoproteinemias" EXACT []
synonym: "hypobetalipoproteinemias" EXACT []
xref: MESH:D006995
is_a: DOID:1387 ! hypolipoproteinemia

[Term]
id: DOID:13902
name: white piedra
def: "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Superficial/White_piedra/ "DO"]
synonym: "tinea blanca" EXACT []
xref: ICD10CM:B36.2
xref: ICD9CM:111.2
is_a: DOID:0050133 ! superficial mycosis

[Term]
id: DOID:13909
name: red-green color blindness
synonym: "CBD" EXACT []
synonym: "DCB" EXACT []
synonym: "deutan colorblindness" EXACT []
synonym: "deutan defect" EXACT []
synonym: "deuteranopia" EXACT []
synonym: "Partial Colorblindness, Deutan Series" EXACT []
synonym: "reduced red-green discrimination" EXACT []
xref: EFO:0005581
xref: ICD9CM:368.52
xref: MIM:303800
xref: ORDO:319698
is_a: DOID:13399 ! color blindness

[Term]
id: DOID:1391
name: Norum disease
alt_id: MIM:136120
alt_id: MIM:245900
def: "An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure." [MESH:D007863]
synonym: "alpha LCAT deficiency" EXACT []
synonym: "alpha Lecithin Cholesterol Acyltransferase Deficiency" EXACT []
synonym: "APOLIPOPROTEIN A-I (GIESSEN)" RELATED []
synonym: "dyslipoproteinemic corneal dystrophy" EXACT []
synonym: "FED" EXACT []
synonym: "Fish Eye Disease" EXACT []
synonym: "LCATA Deficiencies" EXACT []
synonym: "LCATA Deficiency" EXACT []
synonym: "LCAT deficiency" EXACT []
synonym: "LCAT-RELATED CONDITION" EXACT []
synonym: "lecithin acyltransferase deficiency" EXACT []
synonym: "lecithin cholesterol acyltransferase deficiency" EXACT []
xref: ICD10CM:E78.6
xref: MESH:D007863
xref: NCI:C84813
is_a: DOID:1387 ! hypolipoproteinemia
is_a: DOID:9002117 ! Hypoalphalipoproteinemias

[Term]
id: DOID:13910
name: red color blindness
synonym: "CBP" EXACT []
synonym: "EFO:0005580" EXACT []
synonym: "partial colorblindness, protan series" EXACT []
synonym: "protan defect" EXACT []
synonym: "protanomaly" RELATED []
synonym: "protanopia" EXACT []
xref: EFO:0005580
xref: ICD9CM:368.51
xref: MIM:303900
xref: MONDO:0010565
is_a: DOID:13399 ! color blindness

[Term]
id: DOID:13911
name: achromatopsia
def: "A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. (DO)" [http://en.wikipedia.org/wiki/Achromatopsia "DO", http://www.ncbi.nlm.nih.gov/books/NBK1418/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382 "DO", http://www.sciencedirect.com/science/article/pii/S0161642009010008 "DO"]
synonym: "ACHM" EXACT []
synonym: "monochromatism" EXACT [MTHICD9_2006:368.54]
xref: ICD10CM:H53.51
xref: ICD9CM:368.54
xref: NCI:C84528
xref: ORDO:49382
xref: RDO:9004252
is_a: DOID:13399 ! color blindness
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:13912
name: acquired color blindness
synonym: "acquired color vision deficiencies" EXACT []
synonym: "acquired color vision deficiency" EXACT []
synonym: "acquired colour blindness" EXACT []
synonym: "acquired colour vision deficiencies" EXACT []
synonym: "acquired colour vision deficiency" EXACT []
xref: ICD10CM:H53.52
xref: ICD9CM:368.55
xref: NCI:C118712
is_a: DOID:13399 ! color blindness
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:13913
name: lumbosacral plexus lesion
synonym: "lumbosacral plexus lesions" EXACT []
xref: ICD9CM:353.1
is_a: DOID:574 ! peripheral nervous system disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13918
name: somatization disorder
def: "A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. (DO)" [http://en.wikipedia.org/wiki/Somatization_disorder, http://en.wikipedia.org/wiki/Somatization_disorder "DO"]
synonym: "Briquet's disorder" EXACT [MTHICD9_2006:300.81]
synonym: "polysomatising disorder" RELATED [SNOMEDCT_2005_07_31:397795007]
synonym: "somatisation disorder" EXACT [SNOMEDCT_2005_07_31:192431008]
synonym: "somatization disorders" EXACT []
xref: ICD10CM:F45.0
xref: ICD9CM:300.81
is_a: DOID:4737 ! somatoform disorder

[Term]
id: DOID:13919
name: irregular astigmatism
xref: ICD10CM:H52.21
xref: ICD9CM:367.22
is_a: DOID:11782 ! astigmatism
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:1392
name: pseudopapilledema
alt_id: MIM:177800
xref: ICD9CM:377.24
xref: MESH:C562401
is_a: DOID:1393 ! visual pathway disease
is_a: DOID:1891 ! optic nerve disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:13921
name: bacterial esophagitis
xref: NCI:C27106
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:11963 ! esophagitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13922
name: eosinophilic esophagitis
alt_id: MIM:610247
alt_id: MIM:613412
def: "An esophagitis characterized by inflammation involving eosinophils located_in esophagus. (DO)" [http://en.wikipedia.org/wiki/Eosinophilic_esophagitis "DO"]
synonym: "childhood eosinophilic esophagitis" NARROW []
synonym: "EE" EXACT []
synonym: "EOE1" EXACT []
synonym: "EOE2" EXACT []
synonym: "Eosinophilic Chronic Esophagitides" EXACT []
synonym: "Eosinophilic Chronic Esophagitis" EXACT []
synonym: "Eosinophilic Esophagitides" EXACT []
synonym: "eosinophilic esophagitis 1" EXACT []
synonym: "eosinophilic esophagitis 2" EXACT []
synonym: "esophageal eosinophilia" EXACT []
synonym: "pediatric eosinophilic esophagitis" NARROW []
xref: EFO:0004232
xref: EFO:0004594
xref: ICD10CM:K20.0
xref: ICD9CM:530.13
xref: MESH:D057765
xref: NCI:C27105
xref: ORDO:73247
is_a: DOID:11963 ! esophagitis
is_a: DOID:9001371 ! Eosinophilia
is_a: DOID:9002850 ! Immediate Hypersensitivity

[Term]
id: DOID:13924
name: necrotizing ulcerative gingivitis
def: "An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." []
synonym: "acute membranous gingivitides" EXACT []
synonym: "Acute Membranous Gingivitis" EXACT []
synonym: "acute necrotising ulcerative gingivitis" EXACT []
synonym: "acute necrotising ulcerative gingivostomatitis" EXACT []
synonym: "Acute Necrotizing Ulcerative Gingivitis" EXACT []
synonym: "acute necrotizing ulcerative gingivostomatitis" EXACT []
synonym: "acute ulceromembranous gingivitis" EXACT []
synonym: "Angina - Vincents" EXACT []
synonym: "ANUG" EXACT []
synonym: "early acute necrotising gingivitis" EXACT []
synonym: "Fusospirillary gingivitides" EXACT []
synonym: "Fusospirillary Gingivitis" EXACT []
synonym: "Fusospirilloses" EXACT []
synonym: "Fusospirillosis" EXACT []
synonym: "Phagedenic Gingivitides" EXACT []
synonym: "Phagedenic Gingivitis" EXACT []
synonym: "Trench Mouth" EXACT []
synonym: "Vincent's angina" EXACT []
synonym: "Vincent's angina - pharyngitis" EXACT []
synonym: "Vincent's disease" EXACT []
synonym: "Vincent's Gingivitis" EXACT []
synonym: "Vincent's Infection" EXACT []
synonym: "Vincent's infection, any site" EXACT []
synonym: "Vincent's stomatitis" EXACT []
synonym: "Vincent Angina" EXACT []
synonym: "Vincent anginas" EXACT []
synonym: "Vincent Gingivitis" EXACT []
synonym: "Vincent Infection" EXACT []
synonym: "Vincents Gingivitis" EXACT []
synonym: "Vincents Infection" EXACT []
synonym: "Vincents stomatitis" EXACT []
synonym: "Vincent stomatitis" EXACT []
xref: EFO:1001058
xref: GARD:5736
xref: ICD10CM:A69.1
xref: ICD9CM:101
xref: MESH:D005892
xref: MONDO:0006865
xref: NCI:C34637
is_a: DOID:3087 ! gingivitis
is_a: DOID:9001724 ! Fusobacterium Infections

[Term]
id: DOID:13929
name: lacrimal duct obstruction
alt_id: MIM:149700
def: "Interference with the secretion of tears by the lacrimal glands. Obstruction of the LACRIMAL SAC or NASOLACRIMAL DUCT causing acute or chronic inflammation of the lacrimal sac (DACRYOCYSTITIS). It is caused also in infants by failure of the nasolacrimal duct to open into the inferior meatus and occurs about the third week of life. In adults occlusion may occur spontaneously or after injury or nasal disease. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p250)" [MESH:D007767]
synonym: "blocked lacrimal canaliculus" EXACT []
synonym: "lacrimal duct defect" EXACT []
synonym: "Lacrimal Duct Obstructions" EXACT []
synonym: "LCDD" EXACT []
synonym: "NASOLACRIMAL DUCT OBSTRUCTION" EXACT []
synonym: "obstruction of lacrimal canaliculus" EXACT []
synonym: "obstruction of lacrimal ducts" EXACT []
synonym: "Tear Duct Obstruction" EXACT []
synonym: "tear duct obstructions" EXACT []
xref: MESH:D007767
xref: NCI:C34757
is_a: DOID:1400 ! lacrimal apparatus disease

[Term]
id: DOID:1393
name: visual pathway disease
def: "An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35342 "DO"]
xref: ICD10CM:H47.9
xref: NCI:C35342
xref: RDO:9002702
is_a: DOID:5614 ! eye disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13934
name: facial paralysis
def: "Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis." [MESH:D005158]
synonym: "central facial paralyses" EXACT []
synonym: "Central Facial Paralysis" EXACT []
synonym: "facial palsies" EXACT []
synonym: "Facial Palsy" EXACT []
synonym: "Facial Paralyses, Peripheral" EXACT []
synonym: "Facial Paresis" EXACT []
synonym: "Hemifacial Paralysis" EXACT []
synonym: "Lower Motor Neuron Facial Palsy" EXACT []
synonym: "Paralyses, Facial" EXACT []
synonym: "Paralyses, Hemifacial" EXACT []
synonym: "Pareses, Facial" EXACT []
synonym: "peripheral facial paralysis" EXACT []
synonym: "upper motor neuron facial palsy" EXACT []
xref: ICD10CM:G51.0
xref: MESH:D005158
xref: NCI:C26769
is_a: DOID:1756 ! facial nerve disease
is_a: DOID:9005246 ! Paralysis

[Term]
id: DOID:13938
name: amenorrhea
def: "A female reproductive system disease that is characterized by the absence of menstruation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23939500 "DO"]
synonym: "absence of menstruation" EXACT []
synonym: "amenia" EXACT []
synonym: "postpartum amenorrhea" EXACT []
synonym: "postpartum amenorrheas" EXACT []
synonym: "primary amenorrhea" EXACT []
xref: EFO:0010269
xref: ICD10CM:N91.2
xref: ICD9CM:626.0
xref: MESH:D000568
xref: NCI:C61443
is_a: DOID:229 ! female reproductive system disease
is_a: DOID:9004918 ! Menstruation Disturbances

[Term]
id: DOID:1394
name: urinary schistosomiasis
def: "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. (DO)" [http://en.wikipedia.org/wiki/Schistosoma_haematobium "DO", http://www.dpd.cdc.gov/dpdx/HTML/Schistosomiasis.htm "DO"]
synonym: "bladder schistosomiasis" EXACT []
synonym: "cystitis with bilharziasis" EXACT []
synonym: "schistosoma haematobium" EXACT []
synonym: "Schistosoma haematobium infection" RELATED []
synonym: "schistosoma hematobium infection" EXACT []
synonym: "Schistosoma hematobium infectious disease" EXACT []
synonym: "schistosomiasis due to schistosoma haematobium" EXACT []
synonym: "Schistosomiasis Haematobia" EXACT []
synonym: "Schistosomiasis haematobium" EXACT []
synonym: "schistosomiasis of bladder" EXACT []
synonym: "Urinary Schistosomiases" EXACT []
synonym: "Urogenital Schistosomiases" EXACT []
synonym: "Urogenital Schistosomiasis" EXACT []
synonym: "vesical schistosomiasis" EXACT []
xref: EFO:0007530
xref: ICD9CM:120.0
xref: MESH:D012553
xref: NCI:C35362
xref: NCI:C39294
is_a: DOID:0080784 ! urinary tract infection
is_a: DOID:1395 ! schistosomiasis
is_a: DOID:365 ! bladder disease

[Term]
id: DOID:13941
name: benign paroxysmal positional vertigo
def: "A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8290084/ "DO"]
synonym: "benign paroxysmal positional nystagmus" EXACT []
synonym: "benign recurrent vertigo" EXACT []
synonym: "benign recurrent vertigos" EXACT []
synonym: "BPPV" EXACT []
synonym: "BRV" EXACT []
synonym: "Familial Benign Recurrent Vertigo" EXACT []
synonym: "Familial Vestibulopathies" EXACT []
synonym: "Familial Vestibulopathy" EXACT []
xref: GARD:5915
xref: ICD9CM:386.11
xref: MESH:D065635
is_a: DOID:9847 ! peripheral vertigo

[Term]
id: DOID:13942
name: acute gonococcal salpingitis
synonym: "gonococcal salpingitis, specified as acute" EXACT []
xref: ICD9CM:098.17
is_a: DOID:10973 ! acute salpingitis
is_a: DOID:9008538 ! Neisseriaceae Infections
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:13943
name: acute gonococcal prostatitis
synonym: "gonococcal prostatitis" EXACT []
xref: ICD9CM:098.12
is_a: DOID:14654 ! prostatitis
is_a: DOID:7551 ! gonorrhea
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:13945
name: CADASIL
def: "A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10476042 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8878478 "DO"]
synonym: "CADASILM" EXACT []
synonym: "CASIL" EXACT []
synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT []
synonym: "cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT []
synonym: "hereditary dementia, multi infarct type" EXACT []
synonym: "hereditary multi-infarct dementia" EXACT []
xref: GARD:1049
xref: ICD10CM:I67.850
xref: MESH:D046589
xref: MIM:PS125310
xref: NCI:C84606
xref: ORDO:136
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:3527 ! cerebral arterial disease
is_a: DOID:630 ! genetic disease
is_a: DOID:8725 ! vascular dementia

[Term]
id: DOID:13948
name: bladder neck obstruction
alt_id: RDO:0005014
def: "Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands." [MESH:D001748]
synonym: "Bladder Outlet Obstruction" EXACT []
synonym: "Obstruction of bladder neck or vesicourethral orifice" EXACT [MTHICD9_2006:596.0]
synonym: "urinary bladder neck obstruction" EXACT []
xref: EFO:1000840
xref: ICD10CM:N32.0
xref: ICD9CM:596.0
xref: MESH:D001748
xref: NCI:C79541
is_a: DOID:12577 ! urethral obstruction
is_a: DOID:365 ! bladder disease
is_a: DOID:5200 ! urinary tract obstruction

[Term]
id: DOID:13949
name: interstitial cystitis
def: "A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." [MESH:D018856]
synonym: "interstitial cystitides" EXACT []
synonym: "painful bladder syndrome" EXACT []
synonym: "ulcerative cystitis" EXACT []
xref: EFO:0008507
xref: GARD:6787
xref: MESH:D018856
xref: NCI:C27189
is_a: DOID:1679 ! cystitis

[Term]
id: DOID:1395
name: schistosomiasis
def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001321.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=schistosomiasis "DO"]
synonym: "bilharziases" EXACT []
synonym: "Bilharziasis" EXACT []
synonym: "Katayama Fever" EXACT []
synonym: "schistosomiases" EXACT []
xref: EFO:1001475
xref: GARD:9687
xref: ICD9CM:120.8
xref: MESH:D012552
is_a: DOID:888 ! fasciolopsiasis

[Term]
id: DOID:13951
name: uterine corpus epithelioid leiomyoma
def: "An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures. (DO)" [http://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html#epithelioid "DO"]
xref: NCI:C40164
is_a: DOID:13223 ! uterine fibroid
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13953
name: uterine corpus dissecting leiomyoma
def: "A uterine fibroid that is characterized by the presence of intramural tearing. (DO)" [http://www.turkjpath.org/text.php3?doi=10.5146/tjpath.2011.01085 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23370645 "DO"]
xref: NCI:C40172
is_a: DOID:13223 ! uterine fibroid
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13955
name: uterus interstitial leiomyoma
def: "An uterine fibroid that is located within the myometrium. (DO)" [http://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html "DO"]
synonym: "intramural leiomyoma of uterus" EXACT []
xref: ICD10CM:D25.1
xref: ICD9CM:218.1
is_a: DOID:13223 ! uterine fibroid
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13956
name: uterine corpus myxoid leiomyoma
def: "An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity. (DO)" [http://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html "DO"]
xref: NCI:C40166
is_a: DOID:13223 ! uterine fibroid
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:13957
name: uterine corpus lipoleiomyoma
def: "An uterine fibroid that is characterized by the presence of adipocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299967/ "DO"]
xref: EFO:1000614
xref: NCI:C40168
is_a: DOID:0060123 ! connective tissue benign neoplasm
is_a: DOID:13223 ! uterine fibroid
is_a: DOID:4386 ! myofibroma
is_a: DOID:9460 ! uterine corpus cancer
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:13958
name: uterine corpus bizarre leiomyoma
def: "An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells. (DO)" [http://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html "DO"]
synonym: "uterine corpus symplastic leiomyoma" EXACT []
xref: NCI:C40167
is_a: DOID:0060095 ! uterine benign neoplasm
is_a: DOID:5127 ! bizarre leiomyoma

[Term]
id: DOID:13963
name: nuclear senile cataract
def: "A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging. (DO)" [https://en.wikipedia.org/wiki/Cataract "DO"]
synonym: "Senile nuclear sclerosis" EXACT [ICD9CM_2006:366.16]
xref: ICD9CM:366.16
xref: RDO:9004350
is_a: DOID:9669 ! senile cataract
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:13964
name: Morgagni cataract
def: "A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging. (DO)" [https://eyewiki.aao.org/Morgagnian_Cataract "DO"]
synonym: "hypermature cataract" EXACT []
xref: ICD9CM:366.18
xref: RDO:9004351
is_a: DOID:9669 ! senile cataract
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:1397
name: chronic orbital inflammation
synonym: "chronic inflammation of orbit" EXACT []
xref: ICD10CM:H05.1
xref: ICD9CM:376.1
xref: RDO:9003000
is_a: DOID:930 ! orbital disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:13972
name: female breast lower-outer quadrant cancer
def: "A female breast cancer that is located_in the lower-outer qudrant of the breast. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/ "DO"]
synonym: "malignant neoplasm of lower-outer quadrant of female breast" EXACT []
xref: ICD10CM:C50.51
xref: ICD9CM:174.5
xref: RDO:9001786
is_a: DOID:0050671 ! female breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:13976
name: peptic esophagitis
def: "INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM." [MESH:D004942]
synonym: "Peptic Esophagitides" EXACT []
synonym: "peptic reflux disease" EXACT []
synonym: "Reflux Esophagitides" EXACT []
synonym: "Reflux Esophagitis" EXACT []
synonym: "reflux oesophagitis" EXACT []
xref: EFO:1001095
xref: ICD9CM:530.11
xref: MESH:D004942
is_a: DOID:11963 ! esophagitis
is_a: DOID:750 ! peptic ulcer disease

[Term]
id: DOID:1398
name: parasitic infectious disease
def: "A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4071 "DO"]
subset: RGD_JBrowse_slim
synonym: "ectoparasitic disease" EXACT []
synonym: "parasite infection" EXACT []
synonym: "parasite infections" EXACT []
synonym: "parasitemia" EXACT []
synonym: "Parasitic Disease" EXACT []
synonym: "Parasitic Diseases" EXACT []
synonym: "parasitic infection" EXACT []
synonym: "parasitic infections" EXACT []
xref: EFO:0001067
xref: ICD10CM:H44.12
xref: ICD9CM:360.13
xref: MESH:D010272
xref: NCI:C34587
is_a: DOID:0050117 ! disease by infectious agent

[Term]
id: DOID:1399
name: primary lacrimal atrophy
xref: ICD9CM:375.13
is_a: DOID:1400 ! lacrimal apparatus disease
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:13994
name: cleidocranial dysplasia
alt_id: MIM:119600
def: "An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. (DO)" [http://en.wikipedia.org/wiki/Cleidocranial_dysostosis "DO", http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia "DO", http://www.healthline.com/galecontent/cleidocranial-dysplasia-1 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm "DO", https://www.faces-cranio.org/cleidocranial "DO"]
synonym: "CCD" EXACT []
synonym: "CLCD1" EXACT []
synonym: "cleidocranial digital dysostoses" EXACT []
synonym: "cleidocranial digital dysostosis" EXACT []
synonym: "cleidocranial dysostoses" EXACT []
synonym: "cleidocranial dysostosis" EXACT []
synonym: "cleidocranial dysplasia 1" EXACT []
synonym: "cleidocranial dysplasia 1, forme fruste, dental anomalies only" NARROW []
synonym: "cleidocranial dysplasia 1, forme fruste, with brachydactyly" NARROW []
synonym: "CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE" NARROW []
synonym: "cleidocranial dysplasias" EXACT []
synonym: "LARGE FONTANELLES" NARROW []
synonym: "Marie-Sainton disease" EXACT []
synonym: "Marie Sainton syndrome" EXACT []
synonym: "RUNX2-RELATED CONDITION" BROAD []
synonym: "Scheuthauer Marie Sainton syndrome" EXACT []
synonym: "severe cleidocranial dysplasia with osteoporosis and scoliosis" NARROW []
xref: EFO:0004153
xref: GARD:6118
xref: ICD10CM:Q74.0
xref: MESH:D002973
xref: MONDO:0007340
xref: NCI:C75020
xref: ORDO:1452
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:13996
name: small intestine lymphoma
synonym: "small intestinal lymphoma" EXACT []
xref: NCI:C4007
is_a: DOID:10154 ! small intestine cancer
is_a: DOID:903 ! gastrointestinal lymphoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:13999
name: contact blepharoconjunctivitis
xref: ICD10CM:H10.53
xref: ICD9CM:372.22
xref: RDO:9003495
is_a: DOID:2456 ! blepharoconjunctivitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:1400
name: lacrimal apparatus disease
def: "An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26809 "DO"]
synonym: "lacrimal apparatus diseases" EXACT []
xref: EFO:0009455
xref: ICD10CM:H04
xref: ICD9CM:375
xref: MESH:D007766
xref: NCI:C26809
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:14000
name: rubeosis iridis
xref: ICD10CM:H21.1
xref: ICD9CM:364.42
is_a: DOID:5679 ! retinal disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:14004
name: thoracic aortic aneurysm
def: "An aortic aneurysm that is located_in the thoracic aorta. (DO)" [http://en.wikipedia.org/wiki/Aortic_aneurysm "DO", http://en.wikipedia.org/wiki/Thoracic_aortic_aneurysm "DO"]
synonym: "dilatation of the sinus of Valsalva" NARROW []
synonym: "ISOLATED THORACIC AORTIC ANEURYSM" NARROW []
synonym: "thoracic aortic aneurysm and aortic dissection" EXACT []
synonym: "Thoracic Aortic Aneurysms" EXACT []
synonym: "Thoracic Aortic Aneurysms and Aortic Dissections" EXACT []
synonym: "Thoracic Aortic Aneurysms and Dissections" EXACT []
synonym: "Thoracoabdominal Aortic Aneurysm" EXACT []
synonym: "thoracoabdominal aortic aneurysms" EXACT []
xref: EFO:0004282
xref: EFO:0010163
xref: MESH:D017545
xref: MIM:PS607086
xref: NCI:C27001
xref: ORDO:91387
is_a: DOID:3627 ! aortic aneurysm

[Term]
id: DOID:14006
name: splenic artery aneurysm
xref: ICD9CM:442.83
xref: RDO:9002814
is_a: DOID:0050828 ! artery disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14018
name: alcoholic liver cirrhosis
def: "FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." [MESH:D008104]
synonym: "Alcoholic Cirrhosis" EXACT []
synonym: "alcoholic cirrhosis of liver" EXACT []
synonym: "Alcoholic Hepatic Cirrhosis" EXACT []
synonym: "Laennec's cirrhosis" EXACT []
synonym: "Laennec's cirrhosis, alcoholic" EXACT []
synonym: "Portal cirrhosis" EXACT []
xref: EFO:1000802
xref: ICD10CM:K70.3
xref: ICD9CM:571.2
xref: MESH:D008104
xref: NCI:C34782
is_a: DOID:5082 ! liver cirrhosis
is_a: DOID:9001285 ! Alcoholic Liver Diseases

[Term]
id: DOID:14019
name: Brucella canis brucellosis
def: "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. (DO)" [http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/1172954 "DO"]
xref: ICD10CM:A23.3
xref: ICD9CM:023.3
xref: MONDO:0001857
is_a: DOID:11077 ! brucellosis
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:14021
name: Tietze's syndrome
def: "Idiopathic painful nonsuppurative swellings of one or more costal cartilages, especially of the second rib. The anterior chest pain may mimic that of coronary artery disease. (Dorland, 27th ed.)" [MESH:D013991]
synonym: "costal chondritides" EXACT []
synonym: "Costal Chondritis" EXACT []
synonym: "Costalchondritis" EXACT [SNOMEDCT_2005_07_31:64109004]
synonym: "Costochondral junction syndrome" EXACT [MTHICD9_2006:733.6]
synonym: "Costochondritis" EXACT [SNOMEDCT_2005_07_31:203523006]
synonym: "Slipping rib syndrome" EXACT [SNOMEDCT_2005_07_31:91226007]
synonym: "Tietze's disease" EXACT [ICD9CM_2006:733.6]
synonym: "Tietzes Syndrome" EXACT []
synonym: "Tietze syndrome" EXACT []
xref: ICD10CM:M94.0
xref: ICD9CM:733.6
xref: MESH:D013991
is_a: DOID:1222 ! cartilage disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:14022
name: algoneurodystrophy
xref: ICD10CM:M89.0
xref: ICD9CM:733.7
is_a: DOID:3223 ! complex regional pain syndrome
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14026
name: folic acid deficiency anemia
def: "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines. (DO)" [https://medlineplus.gov/ency/article/000551.htm "DO"]
synonym: "folate-deficiency anaemia" EXACT []
synonym: "folate-deficiency anemia" EXACT []
synonym: "folate-deficient megaloblastic anaemia" EXACT []
synonym: "folic acid deficiencies" EXACT []
synonym: "folic acid deficiency" EXACT []
synonym: "folic acid deficiency anaemia" EXACT []
xref: EFO:0001070
xref: ICD10CM:D52
xref: ICD9CM:281.2
xref: MESH:D005494
xref: MONDO:0001860
is_a: DOID:2355 ! anemia
is_a: DOID:9002785 ! Vitamin B Deficiency

[Term]
id: DOID:14032
name: malignant parietal pleura tumor
synonym: "primary malignant neoplasm of parietal pleura" EXACT []
is_a: DOID:5158 ! pleural cancer

[Term]
id: DOID:14033
name: malignant visceral pleura tumor
synonym: "primary malignant neoplasm of visceral pleura" EXACT []
is_a: DOID:5158 ! pleural cancer

[Term]
id: DOID:14037
name: aorta atresia
def: "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25956755 "DO"]
synonym: "atresia and stenosis of aorta" EXACT []
synonym: "congenital atresia and stenosis of aorta" EXACT []
xref: ICD9CM:747.22
is_a: DOID:520 ! aortic disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:14039
name: POEMS syndrome
def: "A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation. (DO)" [https://rarediseases.info.nih.gov/diseases/7411/poems-syndrome "DO"]
synonym: "Crow Fukase Syndrome" EXACT []
synonym: "polyneuropathy organomegalies" EXACT []
synonym: "Polyneuropathy Organomegaly" EXACT []
synonym: "Polyneuropathy, Organomegaly, Endocrinopathy, M Protein, and Skin Changes Syndrome" EXACT []
synonym: "Takatsuki's Syndrome" EXACT []
synonym: "Takatsuki syndrome" EXACT []
xref: EFO:1001115
xref: GARD:7411
xref: MESH:D016878
xref: NCI:C80303
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:225 ! syndrome
is_a: DOID:2916 ! hypersensitivity reaction type IV disease
is_a: DOID:9003571 ! Paraproteinemias
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:1404
name: residual stage angle-closure glaucoma
synonym: "residual stage of angle-closure glaucoma" EXACT []
xref: ICD10CM:H40.24
xref: ICD9CM:365.24
xref: RDO:9004234
is_a: DOID:1405 ! primary angle-closure glaucoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:14040
name: autoimmune polyendocrine syndrome
def: "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. (DO)" [https://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome "DO"]
synonym: "AIRE deficiencies" EXACT []
synonym: "AIRE deficiency" EXACT []
synonym: "APECED" EXACT []
synonym: "autoimmune polyendocrinopathies" EXACT []
synonym: "autoimmune polyendocrinopathy" EXACT []
synonym: "autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy" EXACT []
synonym: "Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy" EXACT []
synonym: "Autoimmune polyglandular failure" EXACT []
synonym: "diabetes mellitus, Addison's disease, myxedema" EXACT []
synonym: "diabetes mellitus, Addison disease, myxedema" EXACT []
synonym: "Lloyd's syndrome" EXACT []
xref: ICD10CM:E31.0
xref: MESH:D016884
xref: NCI:C84576
is_a: DOID:0060005 ! autoimmune disease of endocrine system

[Term]
id: DOID:14042
name: bipolar I disorder
alt_id: DOID:0080220
alt_id: MIM:125480
def: "A bipolar disorder that is characterized by at least one manic or mixed episode. (DO)" [http://en.wikipedia.org/wiki/Bipolar_I "DO"]
synonym: "autosomal manic-depressive psychosis" EXACT []
synonym: "MAFD1" EXACT []
synonym: "major affective disorder 1" EXACT []
synonym: "MD1" EXACT []
xref: EFO:0009963
xref: ICD9CM:296.50
xref: MESH:C565111
is_a: DOID:3312 ! bipolar disorder
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14043
name: neonatal myasthenia gravis
def: "A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" [MESH:D020941]
synonym: "antenatal myasthenia gravis" EXACT []
synonym: "persistent neonatal myasthenia gravis" EXACT []
synonym: "transient neonatal myasthenia gravis" EXACT []
xref: EFO:1001059
xref: ICD9CM:775.2
xref: MESH:D020941
is_a: DOID:437 ! myasthenia gravis

[Term]
id: DOID:14049
name: phaeohyphomycosis
def: "A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. (DO)" [http://www.thelancet.com/journals/laninf/article/PIIS1473-3099%2809%2970131-8/abstract "DO", https://drfungus.org/knowledge-base/phaeohyphomycosis/ "DO", https://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses#phaeohyphomycosis "DO"]
synonym: "cutaneous phaeohyphomycoses" EXACT []
synonym: "cutaneous phaeohyphomycosis" EXACT []
synonym: "Infection by dematiacious fungi" EXACT []
synonym: "phaehyphomycosis" EXACT []
synonym: "Phaeohyphomycoses" EXACT []
synonym: "subcutaneous phaeohyphomycoses" EXACT []
synonym: "subcutaneous phaeohyphomycosis" EXACT []
xref: GARD:12803
xref: MESH:D060446
is_a: DOID:0050134 ! cutaneous mycosis
is_a: DOID:0050292 ! primary systemic mycosis
is_a: DOID:1352 ! paranasal sinus disease
is_a: DOID:37 ! skin disease
is_a: DOID:850 ! lung disease
is_a: DOID:936 ! brain disease

[Term]
id: DOID:1405
name: primary angle-closure glaucoma
def: "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. (DO)" [https://en.wikipedia.org/wiki/Glaucoma "DO", https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma "DO"]
synonym: "COL18A1-RELATED CONDITION" BROAD []
synonym: "primary closed-angle glaucoma" EXACT []
xref: EFO:1001506
xref: ICD10CM:H40.2
xref: ICD9CM:365.2
xref: MIM:618880
is_a: DOID:13550 ! angle-closure glaucoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:14059
name: paraurethral gland cancer
def: "A female reproductive organ cancer that is located_in the paraurethral glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5874817 "DO"]
synonym: "malignant tumor of paraurethral gland" EXACT []
synonym: "malignant tumor of the Paraurethral gland" EXACT []
xref: ICD10CM:C68.1
xref: ICD9CM:189.4
xref: RDO:9002286
is_a: DOID:120 ! female reproductive organ cancer
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:1406
name: iritis
def: "Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris." [MESH:D007500]
synonym: "Iritides" EXACT []
xref: EFO:1000997
xref: MESH:D007500
xref: NCI:C50621
is_a: DOID:1407 ! anterior uveitis
is_a: DOID:240 ! iris disease

[Term]
id: DOID:14064
name: acute poststreptococcal glomerulonephritis
synonym: "post-streptococcal glomerulonephritis" EXACT []
xref: NCI:C35443
is_a: DOID:2921 ! glomerulonephritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:14066
name: acute diffuse nephritis
synonym: "acute diffuse glomerulonephritis" EXACT []
xref: NCI:C35587
is_a: DOID:4781 ! diffuse glomerulonephritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:14067
name: Plasmodium falciparum malaria
def: "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=falciparum+malaria "DO"]
synonym: "falciparum malaria" EXACT []
synonym: "malaria fever, subtertian" EXACT []
synonym: "malignant tertian fever" EXACT []
xref: EFO:0007444
xref: ICD10CM:B50
xref: ICD9CM:084.0
xref: MESH:D016778
xref: NCI:C34798
is_a: DOID:12365 ! malaria

[Term]
id: DOID:14068
name: blackwater fever
def: "A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. (DO)" [http://en.wikipedia.org/wiki/Blackwater_fever "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=blackwater%20fever "DO"]
synonym: "Black Water Fever" EXACT []
synonym: "Black Water Fevers" EXACT []
synonym: "Blackwater Fevers" EXACT []
synonym: "hemoglobinuric malaria" EXACT []
synonym: "Hemolytic Malaria" EXACT []
synonym: "Hemolytic Malarias" EXACT []
synonym: "malarial hemoglobinuria" EXACT []
xref: EFO:0007172
xref: ICD9CM:084.8
xref: MESH:D001742
xref: NCI:C34426
is_a: DOID:12365 ! malaria
is_a: DOID:14067 ! Plasmodium falciparum malaria

[Term]
id: DOID:14069
name: cerebral malaria
def: "A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. (DO)" [http://en.wikipedia.org/wiki/Malaria "DO"]
synonym: "malarial encephalitis" EXACT []
synonym: "Malaria Meningitis" EXACT []
xref: EFO:0006857
xref: ICD10CM:B50.0
xref: MESH:D016779
xref: NCI:C128373
is_a: DOID:12365 ! malaria
is_a: DOID:9002216 ! Central Nervous System Protozoal Infections

[Term]
id: DOID:1407
name: anterior uveitis
alt_id: RDO:0004984
def: "Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced." [MESH:D014606]
synonym: "Anterior Uveitides" EXACT []
xref: EFO:1000811
xref: GARD:10941
xref: MESH:D014606
xref: NCI:C35109
is_a: DOID:12030 ! panuveitis

[Term]
id: DOID:14070
name: vestibular nystagmus
synonym: "Nystagmus associated with disorder of the vestibular system" EXACT [ICD9CM_2006:379.54]
xref: ICD9CM:379.54
xref: RDO:9003054
is_a: DOID:1242 ! globe disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:14075
name: geniculate ganglionitis
synonym: "geniculate ganglionitides" EXACT []
xref: ICD10CM:G51.1
xref: ICD9CM:351.1
is_a: DOID:1756 ! facial nerve disease

[Term]
id: DOID:14080
name: glucocorticoid-remediable aldosteronism
alt_id: MIM:103900
def: "A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10852446/ "DO", https://pubmed.ncbi.nlm.nih.gov/1731223/ "DO"]
synonym: "ACTH-dependent hyperaldosteronism syndrome" EXACT []
synonym: "aldosteronism sensitive to dexamethasone" EXACT []
synonym: "familial hyperaldosteronism type I" EXACT []
synonym: "FH I" EXACT []
synonym: "glucocorticoid-suppressible hyperaldosteronism" EXACT []
synonym: "GRA" EXACT []
synonym: "GRS" EXACT []
synonym: "GSH" EXACT []
synonym: "HALD1" EXACT []
xref: GARD:2790
xref: ICD10CM:E26.02
xref: ICD9CM:255.11
xref: MESH:C563177
xref: NCI:C123248
xref: NCI:C127161
is_a: DOID:446 ! primary hyperaldosteronism

[Term]
id: DOID:14081
name: toxic labyrinthitis
def: "A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. (DO)" [http://books.google.com/books?id=FB0Asxq2KSQC&pg=PA120&lpg#v=onepage&q=&f=false "DO", https://www.ncbi.nlm.nih.gov/pubmed/16448876 "DO"]
xref: ICD9CM:386.34
is_a: DOID:1468 ! labyrinthitis
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:14087
name: epicondylitis
def: "A bone inflammation disease that results_in inflammation located_in epicondyle. (DO)" [http://en.wikipedia.org/wiki/Epicondylitis "DO"]
synonym: "andrel epicondylitis" EXACT []
synonym: "archer's elbow" EXACT []
synonym: "golfer's elbow" NARROW []
synonym: "hockey elbow" EXACT []
synonym: "lateral epicondylitides" NARROW []
synonym: "Lateral Epicondylitis" NARROW []
synonym: "Lateral Humeral Epicondylitides" NARROW []
synonym: "Lateral Humeral Epicondylitis" NARROW []
synonym: "medial epicondylitis" NARROW []
synonym: "shooter's elbow" RELATED []
synonym: "Tennis Elbow" NARROW []
synonym: "tennis elbows" NARROW []
xref: EFO:1001887
xref: EFO:1001896
xref: ICD10CM:M77.1
xref: ICD9CM:726.32
xref: MESH:D013716
xref: NCI:C34589
xref: NCI:C35067
is_a: DOID:3342 ! bone inflammation disease
is_a: DOID:9003309 ! Arm Injuries
is_a: DOID:9006252 ! Elbow Tendinopathy

[Term]
id: DOID:14089
name: root caries
def: "Dental caries involving the tooth root, cementum, or cervical area of the tooth." [MESH:D017213]
synonym: "cementum caries" EXACT []
synonym: "Cervical Caries" EXACT []
synonym: "Cervical Cary" EXACT []
synonym: "dental caries of root surface" EXACT []
xref: EFO:1001163
xref: ICD9CM:521.08
xref: MESH:D017213
is_a: DOID:216 ! dental caries

[Term]
id: DOID:14092
name: renal artery atheroma
synonym: "Atherosclerosis of renal artery" EXACT []
synonym: "renal atherosclerosis" RELATED []
xref: ICD10CM:I70.1
xref: ICD9CM:440.1
xref: RDO:9002216
is_a: DOID:1936 ! atherosclerosis
is_a: DOID:2388 ! renal artery disease
is_a: DOID:2972 ! renal artery obstruction
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:14095
name: boutonneuse fever
def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. (DO)" [http://en.wikipedia.org/wiki/Boutonneuse_fever "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"]
synonym: "african tick typhus" EXACT []
synonym: "Boutonneuse disease" RELATED []
synonym: "Boutonneuse fevers" EXACT []
synonym: "Conor and Bruch's disease" RELATED []
synonym: "Kenya fever" RELATED []
synonym: "Kenyan tick typhus" RELATED []
synonym: "kenya tick typhus" EXACT []
synonym: "marseilles fever" EXACT []
synonym: "Mediterranean spotted fever" EXACT []
synonym: "Mediterranean tick fever" RELATED []
synonym: "Rickettsia conorii spotted fever" EXACT []
synonym: "South African tick-bite fever" EXACT []
xref: EFO:0007179
xref: ICD10CM:A77.1
xref: ICD9CM:082.1
xref: MESH:D001907
is_a: DOID:11104 ! spotted fever

[Term]
id: DOID:14096
name: infertility due to extratesticular cause
synonym: "Infertility due to extratesticular causes" EXACT [ICD9CM_2006:606.8]
xref: ICD9CM:606.8
xref: RDO:9003737
is_a: DOID:12336 ! male infertility
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:14099
name: acquired gastric outlet stenosis
synonym: "acquired hypertrophic pyloric stenosis" EXACT []
synonym: "adult hypertrophic pyloric stenosis" EXACT []
xref: ICD9CM:537.0
is_a: DOID:12639 ! pyloric stenosis

[Term]
id: DOID:14107
name: De Quervain disease
def: "Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS." [MESH:D053684]
synonym: "De Quervain's Disease" EXACT []
synonym: "de Quervain's tenosynovitis" EXACT []
synonym: "De Quervains Disease" EXACT []
synonym: "De Quervain Stenosing Tenosynovitis" EXACT []
synonym: "radial styloid tenosynovitis" EXACT []
xref: EFO:1000891
xref: ICD10CM:M65.4
xref: ICD9CM:727.04
xref: MESH:D053684
is_a: DOID:381 ! arthropathy
is_a: DOID:9004608 ! Tendon Entrapment

[Term]
id: DOID:14110
name: anus cancer
def: "A large intestine cancer that is located_in the anus. (DO)" [http://en.wikipedia.org/wiki/Anus "DO"]
synonym: "anal cancer" EXACT []
synonym: "malignant anal tumor" EXACT []
xref: EFO:0003835
xref: GARD:9300
xref: ICD10CM:C21.0
xref: ICD10CM:C21.1
xref: ICD9CM:154.2
xref: ICD9CM:154.3
xref: NCI:C7379
is_a: DOID:3128 ! anus disease
is_a: DOID:5672 ! large intestine cancer

[Term]
id: DOID:14111
name: median rhomboid glossitis
synonym: "persistent tuberculum impar" EXACT []
xref: ICD10CM:K14.2
xref: ICD9CM:529.2
is_a: DOID:1456 ! glossitis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:14115
name: toxic shock syndrome
def: "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. (DO)" [http://en.wikipedia.org/wiki/Toxic_shock_syndrome "DO"]
synonym: "Toxic Shock" EXACT []
synonym: "Toxic Shock Syndromes" EXACT []
synonym: "TSS" EXACT []
xref: ICD10CM:A48.3
xref: ICD9CM:040.82
xref: MESH:D012772
xref: NCI:C35498
is_a: DOID:0050339 ! commensal bacterial infectious disease
is_a: DOID:9004484 ! Sepsis

[Term]
id: DOID:14116
name: multiple symmetric lipomatosis
alt_id: DOID:3137
alt_id: MIM:151800
def: "A condition characterized by the growth of unencapsulated masses of ADIPOSE TISSUE symmetrically deposited around the neck, shoulders, or other sites around the body." []
synonym: "benign symmetrical lipomatosis" EXACT []
synonym: "cephalothoracic lipodystrophies" EXACT []
synonym: "cephalothoracic lipodystrophy" EXACT []
synonym: "cervical symmetrical lipomatosis" EXACT []
synonym: "familial benign cervical lipomatosis" EXACT []
synonym: "Launois-Bensaude's lipomatosis" EXACT []
synonym: "Launois-Bensaude syndrome" EXACT []
synonym: "Madelung's Disease" EXACT []
synonym: "Madelung's neck" EXACT []
synonym: "Madelung disease" EXACT []
synonym: "Madelung Neck" EXACT []
synonym: "Madelungs Disease" EXACT []
synonym: "Madelungs neck" EXACT []
synonym: "multiple symmetrical lipomatoses" EXACT []
synonym: "multiple symmetrical lipomatosis" EXACT []
synonym: "multiple symmetric lipomatoses" EXACT []
synonym: "multiple symmetric lipomatosis, with or without peripheral neuropathy" EXACT []
synonym: "nodular circumscribed lipomatoses" EXACT []
synonym: "nodular circumscribed lipomatosis" EXACT []
xref: EFO:1000737
xref: GARD:6957
xref: MESH:D008069
xref: NCI:C4392
is_a: DOID:3153 ! lipomatosis

[Term]
id: DOID:14118
name: familial lipoprotein lipase deficiency
def: "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35415234/ "DO", https://rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency/ "DO"]
synonym: "Burger Grutz Syndrome" EXACT []
synonym: "Burger-Grutz syndromes" EXACT []
synonym: "C-II Anapolipoproteinemia" EXACT []
synonym: "C-II anapolipoproteinemias" EXACT []
synonym: "Essential Familial Hyperlipemia" EXACT []
synonym: "essential familial hyperlipemias" EXACT []
synonym: "familial chylomiconemia syndrome" EXACT []
synonym: "Familial Chylomicronemia" EXACT []
synonym: "familial chylomicronemias" EXACT []
synonym: "Familial Fat Induced Hypertriglyceridemia" EXACT []
synonym: "familial fat-induced hypertriglyceridemias" EXACT []
synonym: "Familial Hyperchylomicronemia" EXACT []
synonym: "Familial Hyperchylomicronemias" EXACT []
synonym: "Familial Hyperlipoproteinemia Type 1" EXACT []
synonym: "familial hyperlipoproteinemia type I" EXACT []
synonym: "Familial LPL Deficiencies" EXACT []
synonym: "Familial LPL Deficiency" EXACT []
synonym: "Fredrickson type I hyperlipoproteinemia" EXACT []
synonym: "Fredrickson type I lipaemia" EXACT []
synonym: "hypercholesterinaemic xanthomatosis" EXACT []
synonym: "hyperchylomicronemia" EXACT []
synonym: "Hyperlipemia, Idiopathic, Burger-Grutz Type" EXACT []
synonym: "hyperlipoproteinemias type I" EXACT []
synonym: "hyperlipoproteinemias type Ia" EXACT []
synonym: "Hyperlipoproteinemia Type I" EXACT []
synonym: "Hyperlipoproteinemia Type Ia" EXACT []
synonym: "Lipase D Deficiencies" EXACT []
synonym: "Lipase D Deficiency" EXACT []
synonym: "LIPD Deficiencies" EXACT []
synonym: "LIPD Deficiency" EXACT []
synonym: "Lipoprotein Lipase Deficiencies" EXACT []
synonym: "lipoprotein lipase deficiency" EXACT []
synonym: "LPL deficiency" EXACT []
synonym: "mixed hyperglyceridemia" EXACT []
xref: GARD:12241
xref: ICD10CM:E78.3
xref: ICD9CM:272.3
xref: MESH:D008072
xref: MIM:238600
xref: MONDO:0009387
xref: NCI:C84771
xref: ORDO:309015
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111417 ! familial chylomicronemia syndrome
is_a: DOID:9007571 ! Hyperlipoproteinemias

[Term]
id: DOID:1412
name: bacteriuria
def: "A urinary system disease which consists of the presence of bacteria in urine. (DO)" [http://en.wikipedia.org/wiki/Bacteriuria "DO"]
synonym: "bacteriurias" EXACT []
xref: ICD10CM:R82.71
xref: MESH:D001437
is_a: DOID:0080784 ! urinary tract infection
is_a: DOID:18 ! urinary system disease

[Term]
id: DOID:14121
name: blue toe syndrome
def: "A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation." [MESH:D018438]
xref: MESH:D018438
is_a: DOID:1461 ! cholesterol embolism
is_a: DOID:225 ! syndrome
is_a: DOID:341 ! peripheral vascular disease

[Term]
id: DOID:14125
name: abducens nerve neoplasm
synonym: "neoplasm of abducens nerve" EXACT []
synonym: "VIth cranial nerve tumors" EXACT []
xref: NCI:C5826
is_a: DOID:10865 ! abducens nerve palsy
is_a: DOID:2815 ! cranial nerve malignant neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:14130
name: lateral cystocele
def: "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26337427 "DO"]
xref: ICD10CM:N81.12
xref: ICD9CM:618.02
is_a: DOID:1284 ! prolapse of female genital organ
is_a: DOID:9005096 ! Cystocele
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:14131
name: midline cystocele
def: "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26337427 "DO"]
xref: ICD10CM:N81.11
xref: ICD9CM:618.01
is_a: DOID:1284 ! prolapse of female genital organ
is_a: DOID:9005096 ! Cystocele
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:14133
name: Masters-Allen syndrome
def: "A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery. (DO)" [https://www.ajog.org/article/S0002-9378(05)02620-7/abstract "DO"]
synonym: "broad ligament laceration syndrome" EXACT []
xref: ICD9CM:620.6
xref: RDO:9004593
is_a: DOID:225 ! syndrome
is_a: DOID:229 ! female reproductive system disease
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:14139
name: anus lymphoma
synonym: "lymphoma of anus" EXACT []
xref: NCI:C5601
is_a: DOID:0060058 ! lymphoma
is_a: DOID:14110 ! anus cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:1414
name: ovarian dysfunction
def: "An ovarian disease that is characterized by irregular or absent ovulation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26132932 "DO"]
xref: EFO:0009003
xref: ICD9CM:256.3
is_a: DOID:1100 ! ovarian disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:14140
name: pulp erosion
xref: ICD9CM:521.33
is_a: DOID:2498 ! tooth erosion

[Term]
id: DOID:14145
name: malignant anus melanoma
synonym: "anal melanoma" EXACT []
synonym: "malignant melanoma of anus" EXACT []
xref: EFO:1000080
xref: NCI:C4639
is_a: DOID:14110 ! anus cancer
is_a: DOID:1909 ! melanoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:14146
name: ureterolithiasis
def: "An ureteral disease this is characterized by the formation of stoney concentrations in the ureter. (DO)" [https://www.jucm.com/ureterolithiasis-leaving-stone-unturned/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/28513524 "DO"]
synonym: "calculus of ureter" EXACT []
synonym: "ureteric calculus" EXACT []
synonym: "ureteric stone" EXACT []
synonym: "ureterolithiases" EXACT []
xref: EFO:1001228
xref: ICD10CM:N20.1
xref: ICD9CM:592.1
xref: MESH:D053039
xref: NCI:C114696
is_a: DOID:0080653 ! urolithiasis
is_a: DOID:1426 ! ureteral disease

[Term]
id: DOID:1415
name: gyrate atrophy
alt_id: MIM:258870
def: "Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood." [MESH:D015799]
synonym: "GACR" EXACT []
synonym: "Gyrate Atrophy of Choroid and Retina" EXACT []
synonym: "Gyrate Atrophy of Choroid and Retina with Pyridoxine-Responsive Ornithinemia" EXACT []
synonym: "Gyrate atrophy of the choroid and/or retina" EXACT [SNOMEDCT_2005_07_31:87126009]
synonym: "Gyrate Atrophy of the Choroid and Retina" EXACT []
synonym: "gyrate atrophy of the retina" EXACT [CSP2005:1849-9719]
synonym: "HOGA" EXACT []
synonym: "Hyperornithinemia with Gyrate Atrophy of Choroid and Retina" EXACT []
synonym: "OAT Deficiency" EXACT []
synonym: "OKT Deficiency" EXACT []
synonym: "Ornithine Aminotransferase Deficiency" EXACT []
synonym: "Ornithine Delta Aminotransferase Deficiency" EXACT []
synonym: "Ornithine Keto Acid Aminotransferase Deficiency" EXACT []
synonym: "Ornithine Ketoacid Aminotransferase Deficiency" EXACT []
synonym: "Ornithinemia with Gyrate Atrophy" EXACT []
xref: GARD:6556
xref: MESH:D015799
xref: NCI:C84744
xref: RDO:0001120
is_a: DOID:1417 ! choroid disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:14150
name: spinal cord lymphoma
def: "A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. (DO)" [http://www.virtualmedicalcentre.com/diseases.asp?did=583 "DO"]
synonym: "lymphoma of the spinal cord" EXACT []
xref: NCI:C5157
is_a: DOID:3234 ! central nervous system lymphoma
is_a: DOID:5612 ! spinal cancer
is_a: DOID:5772 ! central nervous system hematologic cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:14151
name: spinal cord melanoma
synonym: "melanoma of the spinal cord" EXACT []
xref: NCI:C5158
is_a: DOID:1909 ! melanoma
is_a: DOID:5612 ! spinal cancer
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:14152
name: spinal cord sarcoma
synonym: "sarcoma of the spinal cord" EXACT []
xref: NCI:C5152
is_a: DOID:2133 ! central nervous system sarcoma
is_a: DOID:5612 ! spinal cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:14155
name: acute retrobulbar neuritis
synonym: "Retrobulbar Neuritides" EXACT []
synonym: "Retrobulbar neuritis" EXACT [ICD9CM_2006:377.32]
xref: ICD9CM:377.32
xref: RDO:9002686
is_a: DOID:1210 ! optic neuritis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14159
name: obstructive hydrocephalus
xref: ICD10CM:G91.1
xref: ICD9CM:331.4
xref: NCI:C116347
xref: RDO:9003971
is_a: DOID:10908 ! hydrocephalus
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:14165
name: bilateral hyperactive labyrinth
synonym: "hyperactive bilateral labyrinthine dysfunction" EXACT []
xref: ICD9CM:386.52
is_a: DOID:2952 ! inner ear disease
is_a: DOID:566 ! labyrinthine dysfunction
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:1417
name: choroid disease
alt_id: OMIA:000218
def: "An uveal disease that is located_in the choroid. (DO)" [https://www.vagelos.columbia.edu/departments-centers/ophthalmology/education/digital-reference-ophthalmology/vitreous-and-retina/retina-choroid-disorders "DO", MESH:D015862]
synonym: "Choroidal Disease" EXACT []
synonym: "Choroidal Diseases" EXACT []
synonym: "choroidal dystrophy" NARROW []
synonym: "choroidal hypoplasia" NARROW []
synonym: "choroid diseases" EXACT []
synonym: "Collie eye anomaly" NARROW []
xref: ICD10CM:H31.9
xref: ICD9CM:363.9
xref: MESH:D015862
xref: NCI:C34468
is_a: DOID:3480 ! uveal disease

[Term]
id: DOID:14172
name: rheumatic congestive heart failure
synonym: "Rheumatic heart failure" RELATED []
xref: ICD10CM:I09.81
xref: ICD9CM:398.91
xref: RDO:9002013
is_a: DOID:0050827 ! rheumatic heart disease
is_a: DOID:6000 ! congestive heart failure
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:14174
name: central neurocytoma
def: "A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" [MESH:D018306]
synonym: "Central Neurocytomas" EXACT []
synonym: "neurocytoma" EXACT []
synonym: "Neurocytomas" EXACT []
synonym: "neurolipocytoma" EXACT []
xref: EFO:1000856
xref: ICDO:9506/1
xref: MESH:D018306
xref: NCI:C3791
is_a: DOID:3541 ! cerebral ventricle cancer
is_a: DOID:7305 ! astroblastoma

[Term]
id: DOID:14175
name: von Hippel-Lindau disease
alt_id: MIM:193300
def: "An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions." [MESH:D006623]
synonym: "Angiomatosis Retinae" EXACT []
synonym: "Familial Cerebello-Retinal Angiomatoses" EXACT []
synonym: "Familial Cerebelloretinal Angiomatoses" EXACT []
synonym: "Familial Cerebello Retinal Angiomatosis" EXACT []
synonym: "Familial Cerebelloretinal Angiomatosis" EXACT []
synonym: "Hippel Lindau Disease" EXACT []
synonym: "Hippel Lindau syndrome" EXACT [CSP2005:5000-0055]
synonym: "Lindau's Disease" EXACT []
synonym: "Lindau's Diseases" EXACT []
synonym: "Lindau Disease" EXACT []
synonym: "Lindaus Disease" EXACT []
synonym: "VHL" EXACT []
synonym: "VHL Syndrome" EXACT []
synonym: "VHL Syndromes" EXACT []
synonym: "von Hippel-Lindau" EXACT []
synonym: "von Hippel Lindau Syndrome" EXACT []
synonym: "von Hippel-Lindau syndrome, modifier of" RELATED []
synonym: "von Hippel-Lindau syndrome, modifiers of" RELATED []
xref: GARD:7855
xref: ICD10CM:Q85.8
xref: ICD10CM:Q85.83
xref: MESH:D006623
xref: NCI:C3105
is_a: DOID:5241 ! hemangioblastoma
is_a: DOID:9001734 ! Neurocutaneous Syndromes
is_a: DOID:9004079 ! Angiomatosis

[Term]
id: DOID:14176
name: selective IgG deficiency disease
def: "A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26846287 "DO"]
synonym: "IgG Deficiencies" EXACT []
synonym: "IgG Deficiency" EXACT []
synonym: "immunoglobin G subclass deficiency" EXACT []
synonym: "selective deficiency of IgG" EXACT []
synonym: "selective IgG Immunodeficiency" EXACT []
synonym: "selective immunoglobulin G deficiency" EXACT []
synonym: "selective immunoglobulin G subclass deficiency" EXACT []
xref: GARD:10371
xref: ICD10CM:D80.3
xref: MESH:D017099
xref: NCI:C27024
xref: NCI:C27142
is_a: DOID:11702 ! dysgammaglobulinemia

[Term]
id: DOID:14177
name: congenital hypogammaglobulinemia
synonym: "congenital hypogammaglobulinaemia" EXACT []
xref: ICD9CM:279.04
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:2115 ! B cell deficiency
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:14179
name: X-linked agammaglobulinemia
alt_id: MIM:300755
def: "An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. (DO)" [http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001307.htm "DO"]
synonym: "agammaglobulinemia, Bruton tyrosine kinase" EXACT []
synonym: "agammaglobulinemia, BTK" EXACT []
synonym: "AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1" EXACT []
synonym: "Agammaglobulinemia, X-Linked, Type I" EXACT []
synonym: "AGMX1" EXACT []
synonym: "Bruton's agammaglobulinaemia" EXACT []
synonym: "Bruton's agammaglobulinemia" EXACT []
synonym: "Bruton's sex-linked agammaglobulinemia" EXACT []
synonym: "Bruton's type agammaglobulinemia" EXACT []
synonym: "Bruton agammaglobulinemia tyrosine kinase deficiency" EXACT []
synonym: "Bruton disease" EXACT []
synonym: "Bruton-type (congenital X-linked) agammaglobulinemia" EXACT []
synonym: "Bruton-type agammaglobulinemia" EXACT []
synonym: "BTK deficiency" EXACT []
synonym: "congenital agammaglobulinemia" EXACT []
synonym: "IMD1" EXACT []
synonym: "immunodeficiency 1" EXACT []
synonym: "XLA" EXACT []
synonym: "X-linked hypoagammaglobulinemia" NARROW []
synonym: "X-linked hypogammaglobulinemia" NARROW []
xref: EFO:0003079
xref: MESH:C537409
xref: NCI:C3822
xref: ORDO:47
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:2583 ! agammaglobulinemia

[Term]
id: DOID:14181
name: calcific tendinitis
xref: ICD10CM:M75.3
xref: ICD9CM:726.11
is_a: DOID:971 ! tendinitis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:14183
name: alcoholic neuropathy
def: "A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)" [MESH:D020269]
synonym: "alcoholic axonal neuropathies" EXACT []
synonym: "Alcoholic Axonal Neuropathy" EXACT []
synonym: "Alcoholic Neuropathies" EXACT []
synonym: "Alcoholic Polyneuritides" EXACT []
synonym: "Alcoholic Polyneuritis" EXACT []
synonym: "Alcoholic Polyneuropathies" EXACT []
synonym: "Alcoholic Polyneuropathy" EXACT []
synonym: "Alcohol-Induced Peripheral Neuropathies" EXACT []
synonym: "Alcohol Induced Peripheral Neuropathy" EXACT []
synonym: "Alcohol-Induced Polyneuropathies" EXACT []
synonym: "Alcohol Induced Polyneuropathy" EXACT []
synonym: "Alcohol-Related Autonomic Polyneuropathies" EXACT []
synonym: "Alcohol Related Autonomic Polyneuropathy" EXACT []
synonym: "Alcohol-Related Polyneuropathies" EXACT []
synonym: "alcohol-related polyneuropathy" EXACT []
xref: EFO:1000803
xref: ICD10CM:G62.1
xref: ICD9CM:357.5
xref: MESH:D020269
xref: NCI:C26926
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:2537 ! inflammatory and toxic neuropathy
is_a: DOID:9007727 ! Alcohol-Induced Disorders, Nervous System

[Term]
id: DOID:14184
name: polyneuropathy due to drug
xref: ICD10CM:G62.0
xref: ICD9CM:357.6
xref: RDO:9002726
is_a: DOID:2537 ! inflammatory and toxic neuropathy
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14188
name: frozen shoulder
def: "A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion. (DO)" [https://www.mayoclinic.org/diseases-conditions/frozen-shoulder/symptoms-causes/syc-20372684 "DO"]
synonym: "adhesions-capsulitis,shoulder" EXACT []
synonym: "adhesive capsulitis of shoulder" EXACT []
xref: EFO:1000941
xref: ICD10CM:M75.0
xref: ICD9CM:726.0
is_a: DOID:2965 ! bursitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:14192
name: bicipital tenosynovitis
xref: ICD9CM:726.12
is_a: DOID:970 ! tenosynovitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:14199
name: posterior dislocation of lens
xref: ICD10CM:H27.13
xref: ICD9CM:379.34
xref: RDO:9003053
is_a: DOID:1242 ! globe disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:14202
name: adult dermatomyositis
synonym: "adult onset dermatomyositis" EXACT [SNOMEDCT_2005_07_31:402425006]
synonym: "adult type dermatomyositides" EXACT []
synonym: "adult type dermatomyositis" EXACT []
xref: RDO:9002753
is_a: DOID:10223 ! dermatomyositis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14203
name: childhood type dermatomyositis
alt_id: RDO:0016020
synonym: "childhood Dermatomyositis" EXACT [NCI2004_11_17:C27576]
synonym: "childhood type dermatomyositides" EXACT []
synonym: "juvenile dermatomyositis" EXACT []
synonym: "juvenile myositis" EXACT []
xref: EFO:0000557
xref: ICD10CM:M33.0
xref: MESH:C000598745
xref: NCI:C27576
is_a: DOID:10223 ! dermatomyositis

[Term]
id: DOID:14213
name: hypophosphatasia
def: "A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12. (DO)" [https://ghr.nlm.nih.gov/condition/hypophosphatasia "DO"]
synonym: "deficiency of alkaline phosphatase" EXACT []
synonym: "hypophosphatasias" EXACT []
xref: GARD:6734
xref: ICD10CM:E83.39
xref: MESH:D007014
xref: NCI:C26798
xref: ORDO:436
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:225 ! syndrome
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:14218
name: dihydropyrimidine dehydrogenase deficiency
alt_id: MIM:274270
def: "A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. (DO)" [http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency "DO"]
synonym: "5-fluorouracil toxicity" NARROW []
synonym: "dihydropyrimidine dehydrogenase deficiencies" EXACT []
synonym: "Dihydropyrimidinuria" EXACT []
synonym: "Dihydropyrimidinurias" EXACT []
synonym: "dihydrouracil dehydrogenase deficiency" EXACT []
synonym: "DPD Deficiencies" EXACT []
synonym: "DPD Deficiency" EXACT []
synonym: "DPYD DEFICIENCY" EXACT []
synonym: "Familial Pyrimidemia" EXACT []
synonym: "Familial Pyrimidemias" EXACT []
synonym: "familial pyrimidinaemia" EXACT []
synonym: "Familial Pyrimidinemia" EXACT []
synonym: "Familial Pyrimidinemias" EXACT []
synonym: "Hereditary Thymine Uraciluria" EXACT []
synonym: "Hereditary Thymine-Uracilurias" EXACT []
synonym: "thymine-uracilurea" EXACT []
xref: GARD:19
xref: MESH:D054067
xref: NCI:C3964
xref: NCI:C84672
is_a: DOID:653 ! purine-pyrimidine metabolic disorder

[Term]
id: DOID:14219
name: renal tubular acidosis
alt_id: MIM:179830
def: "A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. (DO)" [http://en.wikipedia.org/wiki/Renal_tubular_acidosis "DO", http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/renal_tubular_acidosis_rta.html "DO"]
synonym: "Distal Renal Tubular Acidosis" EXACT []
synonym: "Proximal Renal Tubular Acidosis" EXACT []
synonym: "proximal renal tubular acidosis with ocular abnormalities" EXACT []
synonym: "Proximal Type RTA" EXACT []
synonym: "Renal Tubular Acidosis II" EXACT []
synonym: "type II renal tubular acidosis" EXACT []
xref: GARD:7552
xref: ICD10CM:N25.89
xref: MESH:D000141
xref: NCI:C28129
is_a: DOID:447 ! renal tubular transport disease
is_a: DOID:9002802 ! Acidoses

[Term]
id: DOID:14221
name: abdominal obesity-metabolic syndrome 1
def: "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. (DO)" [https://en.wikipedia.org/wiki/Metabolic_syndrome "DO"]
synonym: "AOMS1" EXACT []
synonym: "dysmetabolic syndrome X" EXACT []
synonym: "METABOLIC SYNDROME, PROTECTION AGAINST" RELATED []
synonym: "metabolic syndrome X" EXACT []
xref: EFO:0000195
xref: GARD:9226
xref: ICD10CM:E88.81
xref: ICD9CM:277.7
xref: MIM:605552
xref: NCI:C84442
is_a: DOID:0060611 ! abdominal obesity-metabolic syndrome

[Term]
id: DOID:14223
name: ochronosis
def: "A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions. (DO)" [https://en.wikipedia.org/wiki/Ochronosis "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681189/ "DO"]
synonym: "ochronoses" EXACT []
xref: GARD:7231
xref: ICD10CM:E70.29
xref: MESH:D009794
xref: NCI:C84938
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:14224
name: tracheal calcification
synonym: "calcification of trachea" EXACT []
xref: MONDO:0001911
xref: NCI:C35314
is_a: DOID:3225 ! tracheal disease
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:14225
name: acute frontal sinusitis
def: "A frontal sinusitis which lasts for less than 4 weeks. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"]
xref: ICD10CM:J01.1
xref: ICD9CM:461.1
is_a: DOID:10791 ! frontal sinusitis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:14227
name: azoospermia
def: "A male infertility disease characterized by the absence of any measurable level of sperm in semen. (DO)" [http://en.wikipedia.org/wiki/Azoospermia "DO", http://ghr.nlm.nih.gov/glossary=azoospermia "DO"]
synonym: "idiopathic azoospermia" NARROW []
synonym: "OBSTRUCTIVE AZOOSPERMIA" NARROW []
xref: EFO:0000279
xref: ICD10CM:N46.0
xref: ICD9CM:606.0
xref: MESH:D053713
xref: NCI:C80076
xref: ORDO:217034
is_a: DOID:12336 ! male infertility

[Term]
id: DOID:14228
name: oligospermia
def: "A male fertility issue defined as a low sperm concentration in the ejaculate. (DO)" [https://en.wikipedia.org/wiki/Oligospermia "DO"]
synonym: "hypospermatogeneses" EXACT []
synonym: "hypospermatogenesis" EXACT []
synonym: "Low Sperm Count" EXACT []
synonym: "low sperm counts" EXACT []
synonym: "oligozoospermia" EXACT []
xref: ICD10CM:N46.1
xref: ICD9CM:606.1
xref: MESH:D009845
xref: NCI:C34860
is_a: DOID:12336 ! male infertility

[Term]
id: DOID:14230
name: scleromalacia perforans
def: "A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis. (DO)" [https://eyewiki.aao.org/Scleritis "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987604/ "DO"]
xref: ICD10CM:H15.05
xref: ICD9CM:379.04
is_a: DOID:11343 ! scleral disease

[Term]
id: DOID:14233
name: orbital cyst
xref: ICD10CM:H05.81
xref: ICD9CM:376.81
is_a: DOID:930 ! orbital disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:14239
name: gastrointestinal tularemia
def: "A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. (DO)" [https://www.cdc.gov/tularemia/index.html "DO"]
synonym: "enteric tularemia" EXACT []
synonym: "intestinal tularaemia" EXACT []
xref: ICD9CM:021.1
is_a: DOID:2123 ! tularemia
is_a: DOID:77 ! gastrointestinal system disease
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:14243
name: chronic perichondritis of pinna
def: "A perichondritis of auricle which is persistent and long-lasting. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm "DO"]
synonym: "chronic pinna perichondritis" EXACT []
xref: ICD9CM:380.02
xref: RDO:9004462
is_a: DOID:222 ! perichondritis of auricle
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:14244
name: epiphora due to excess lacrimation
xref: ICD10CM:H04.21
xref: ICD9CM:375.21
is_a: DOID:13757 ! excessive tearing
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:14245
name: cystoid macular retinal degeneration
synonym: "cystoid macular degeneration of retina" EXACT []
xref: ICD10CM:H35.35
xref: ICD9CM:362.53
is_a: DOID:2007 ! degeneration of macula and posterior pole
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:14247
name: chronic purulent otitis media
def: "A suppurative otitis media which is persistent and long-lasting. (DO)" [http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false "DO"]
synonym: "chronic suppurative otitis media" EXACT []
xref: ICD10CM:H66.3
xref: ICD9CM:382.3
xref: NCI:C128386
is_a: DOID:11506 ! suppurative otitis media
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:14248
name: chronic atticoantral disease
def: "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. (DO)" [http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA114&lpg#v=onepage&q=&f=false "DO"]
synonym: "chronic atticoantral suppurative otitis media" EXACT []
xref: ICD10CM:H66.2
xref: ICD9CM:382.2
xref: RDO:9002449
is_a: DOID:14247 ! chronic purulent otitis media
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:1425
name: pyoureter
def: "Ureter abscess." []
synonym: "Ureter abscess" EXACT [NCI2004_11_17:C35666]
xref: NCI:C35666
is_a: DOID:1426 ! ureteral disease

[Term]
id: DOID:14250
name: Down syndrome
alt_id: MIM:190685
def: "A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. (DO)" [http://en.wikipedia.org/wiki/Down_syndrome "DO", http://ghr.nlm.nih.gov/condition/down-syndrome "DO", http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx "DO", http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome "DO", https://research.nhgri.nih.gov/atlas/condition/trisomy-21 "DO"]
synonym: "47,XX,+21" EXACT []
synonym: "47,XY,+21" EXACT []
synonym: "complete trisomy 21 syndrome" EXACT []
synonym: "DCR" NARROW []
synonym: "Down's syndrome" EXACT []
synonym: "Down's syndrome - trisomy 21" EXACT []
synonym: "Downs syndrome" EXACT []
synonym: "Down syndrome, critical region" NARROW []
synonym: "Down syndrome, susceptibility to" RELATED []
synonym: "DSCR" NARROW []
synonym: "megakaryoblastic leukemia of Down syndrome" NARROW []
synonym: "Mongolism" EXACT []
synonym: "Partial Trisomy 21 Down Syndrome" EXACT []
synonym: "Trisomy 21" EXACT []
synonym: "TRISOMY 21 DOWN SYNDROME CHROMOSOME REGION" NARROW []
synonym: "trisomy 21, meiotic nondisjunction" EXACT []
synonym: "trisomy 21, mitotic nondisjunction" EXACT []
synonym: "trisomy 21 syndrome" EXACT []
synonym: "trisomy G" EXACT []
xref: EFO:0001064
xref: GARD:10247
xref: ICD10CM:Q90
xref: ICD9CM:758.0
xref: MESH:D004314
xref: NCI:C2993
xref: NCI:C43224
xref: ORDO:870
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:14251
name: vitreoretinal dystrophy
synonym: "Vitreoretinal dystrophies" EXACT [ICD9CM_2006:362.73]
xref: ICD10CM:H35.51
xref: ICD9CM:362.73
xref: RDO:9002924
is_a: DOID:8501 ! fundus dystrophy
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:14252
name: dystrophies primarily involving the retinal pigment epithelium
xref: ICD10CM:H35.54
xref: ICD9CM:362.76
xref: RDO:9002925
is_a: DOID:8501 ! fundus dystrophy
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:14253
name: retinal dystrophy in systemic or cerebroretinal lipidoses
xref: ICD9CM:362.71
is_a: DOID:8501 ! fundus dystrophy
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:14256
name: adult-onset Still's disease
def: "A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain. (DO)" [http://en.wikipedia.org/wiki/Adult-onset_Still%27s_disease "DO", http://www.mayoclinic.com/health/adult-stills-disease/DS00792 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000450.htm "DO", http://www.thedoctorwillseeyounow.com/content/arthritis/art1928.html "DO", https://www.aiarthritis.org/stillsdisease "DO"]
synonym: "adult-onset Still disease" EXACT []
synonym: "adult-onset Stills disease" EXACT []
xref: EFO:0007135
xref: GARD:436
xref: ICD10CM:M06.1
xref: MESH:D016706
xref: NCI:C197832
is_a: DOID:7148 ! rheumatoid arthritis

[Term]
id: DOID:1426
name: ureteral disease
def: "A urinary system disease that is located_in the ureter. (DO)" [http://www.nlm.nih.gov/medlineplus/ureteraldisorders.html "DO"]
synonym: "ureteral diseases" EXACT []
xref: MESH:D014515
xref: NCI:C27148
is_a: DOID:18 ! urinary system disease

[Term]
id: DOID:14261
name: fragile X syndrome
alt_id: MIM:300624
def: "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. (DO)" [http://en.wikipedia.org/wiki/Fragile_X_syndrome "DO", http://omim.org/entry/300624 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908 "DO"]
synonym: "Fra(X) Syndrome" EXACT []
synonym: "fragile X-F mental retardation syndrome" EXACT []
synonym: "Fragile X Mental Retardation Syndrome" EXACT []
synonym: "Fragile X Syndromes" EXACT []
synonym: "FRAXA Syndrome" EXACT []
synonym: "FRAXA Syndromes" EXACT []
synonym: "Mar (X) Syndrome" EXACT []
synonym: "Marker X Syndrome" EXACT []
synonym: "Marker X Syndromes" EXACT []
synonym: "Martin Bell Syndrome" EXACT []
synonym: "X-linked mental retardation and macroorchidism" EXACT []
synonym: "X-linked mental retardation associated with MARXQ28" EXACT []
xref: GARD:6464
xref: ICD10CM:Q99.2
xref: ICD9CM:759.83
xref: MESH:D005600
xref: MONDO:0010383
xref: NCI:C84717
xref: ORDO:908
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004151 ! Sex Chromosome Disorders
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:14262
name: oral candidiasis
def: "A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. (DO)" [http://en.wikipedia.org/wiki/Oral_candidiasis "DO"]
synonym: "candidiasis of mouth" EXACT []
synonym: "Oral Candidiases" EXACT []
synonym: "Oral Moniliases" EXACT []
synonym: "Oral Moniliasis" EXACT []
synonym: "oral thrush" EXACT []
synonym: "Thrush" EXACT []
xref: EFO:0007406
xref: ICD10CM:B37.9
xref: ICD9CM:112.0
xref: MESH:D002180
xref: NCI:C28137
is_a: DOID:1508 ! candidiasis
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:14264
name: benign neonatal seizures
def: "A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. (DO)" [http://en.wikipedia.org/wiki/Benign_familial_neonatal_epilepsy "DO", http://www.ncbi.nlm.nih.gov/books/NBK32534/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140927 "DO"]
synonym: "Benign Neonatal Convulsion" EXACT []
synonym: "benign neonatal convulsions" EXACT []
synonym: "Benign Neonatal Epilepsies" EXACT []
synonym: "benign neonatal epilepsy" EXACT []
synonym: "Benign Neonatal-Infantile Epilepsies" EXACT []
synonym: "Benign Neonatal-Infantile Epilepsy" EXACT []
synonym: "Benign Neonatal Non Familial Convulsions" EXACT []
synonym: "benign neonatal nonfamilial epilepsy" EXACT []
synonym: "NEONATAL SEIZURE" EXACT []
synonym: "neonatal seizures" EXACT []
synonym: "non familial benign neonatal epilepsy" EXACT []
xref: MESH:D020936
xref: MIM:PS121200
xref: NCI:C84593
xref: ORDO:1949
is_a: DOID:0050702 ! neonatal period electroclinical syndrome
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:14265
name: pulmonary valve insufficiency
def: "A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. (DO)" [http://en.wikipedia.org/wiki/pulmonary_insufficiency "DO"]
synonym: "pulmonary incompetence" EXACT []
synonym: "pulmonary incompetence, non-rheumatic" EXACT []
synonym: "pulmonary insufficiency following trauma and surgery" EXACT []
synonym: "pulmonary regurg." EXACT []
synonym: "pulmonary regurgitation" EXACT []
synonym: "Pulmonary Valve Incompetence" EXACT []
synonym: "pulmonary valve regurgitation" EXACT []
synonym: "pulmonic insufficiency" EXACT []
synonym: "pulmonic valve regurgitation" EXACT []
xref: MESH:D011665
xref: NCI:C50848
xref: NCI:C51447
xref: NCI:C62436
is_a: DOID:5749 ! pulmonary valve disease

[Term]
id: DOID:14268
name: sclerosing cholangitis
alt_id: MIM:617394
def: "Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS." [MESH:D015209]
synonym: "fibrosing cholangitis" EXACT []
synonym: "ISOLATED NEONATAL SCLEROSING CHOLANGITIS" EXACT []
synonym: "neonatal sclerosing cholangiitis" NARROW []
synonym: "Sclerosing Cholangiitides" EXACT []
synonym: "Sclerosing Cholangiitis" EXACT []
synonym: "Sclerosing Cholangitides" EXACT []
xref: EFO:0004268
xref: ICD10CM:K83.09
xref: MESH:D015209
is_a: DOID:9446 ! cholangitis

[Term]
id: DOID:14269
name: suppurative cholangitis
xref: NCI:C35336
is_a: DOID:9446 ! cholangitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14270
name: ascending cholangitis
xref: ICD10CM:K83.0
xref: NCI:C35372
is_a: DOID:9446 ! cholangitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14271
name: acute cholangitis
xref: NCI:C35334
is_a: DOID:9446 ! cholangitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14272
name: pericholangitis
def: "Inflammation of the tissue surrounding the biliary ducts. (NCI)" []
xref: NCI:C34916
is_a: DOID:9446 ! cholangitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14275
name: atrophic vulva
def: "A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800285/ "DO"]
synonym: "atrophy of vulva" EXACT []
xref: ICD10CM:N90.5
xref: ICD9CM:624.1
is_a: DOID:2059 ! vulvar disease

[Term]
id: DOID:14276
name: shoulder impingement syndrome
def: "Compression of the ROTATOR CUFF tendons and subacromial bursa between the HUMERAL HEAD and the ACROMION of the SCAPULA. This condition is associated with subacromial BURSITIS, as well as rotator cuff (largely supraspinatus) and bicipital tendon INFLAMMATION." [MESH:D019534]
synonym: "Coracohumeral Impingement" EXACT []
synonym: "coracohumeral impingements" EXACT []
synonym: "Coracohumeral Impingement Syndrome" EXACT []
synonym: "Coracohumeral Impingement Syndromes" EXACT []
synonym: "Coracoid Impingement Syndrome" EXACT []
synonym: "Coracoid Impingement Syndromes" EXACT []
synonym: "impingement syndrome of shoulder region" EXACT []
synonym: "Internal Impingement Syndrome" EXACT []
synonym: "Internal Impingement Syndromes" EXACT []
synonym: "Outlet Impingement" EXACT []
synonym: "Outlet Impingements" EXACT []
synonym: "Outlet Impingement Syndrome" EXACT []
synonym: "Outlet Impingement Syndromes" EXACT []
synonym: "Posterosuperior Glenoid Impingement" EXACT []
synonym: "Posterosuperior Glenoid Impingements" EXACT []
synonym: "Rotator Cuff Impingement" EXACT []
synonym: "Rotator Cuff Impingements" EXACT []
synonym: "Rotator Cuff Impingement Syndrome" EXACT []
synonym: "Shoulder Impingement Syndromes" EXACT []
synonym: "subacromial impingement" EXACT []
synonym: "Subacromial Impingement Syndrome" EXACT []
synonym: "subacromial impingement syndromes" EXACT []
xref: EFO:1001178
xref: ICD10CM:M75.4
xref: MESH:D019534
is_a: DOID:225 ! syndrome
is_a: DOID:381 ! arthropathy
is_a: DOID:9004155 ! Shoulder Injuries

[Term]
id: DOID:1428
name: endocrine pancreas disease
def: "A pancreas disease that is located_in the endocrine component of the pancreas, consisting of islet cells (islets of Langerhans) that create and release important hormones directly into the bloodstream. (DO)" [https://columbiasurgery.org/pancreas/pancreas-and-its-functions "DO"]
xref: ICD10CM:E16
xref: ICD9CM:251
is_a: DOID:26 ! pancreas disease

[Term]
id: DOID:14283
name: primary hypertrophic osteoarthropathy
alt_id: MIM:119900
def: "A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the male, and is usually first evident during adolescence. Inheritance is primarily autosomal recessive, but an autosomal dominant form exists." [MESH:D010004]
synonym: "CIO" NARROW []
synonym: "clubbing of digits" EXACT []
synonym: "COA" EXACT []
synonym: "cranioosteoarthropathies" EXACT []
synonym: "Cranioosteoarthropathy" EXACT []
synonym: "CURRARINO IDIOPATHIC OSTEOARTHROPATHY" NARROW []
synonym: "Digital Clubbing, Isolated Congenital" EXACT []
synonym: "FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD" NARROW []
synonym: "hereditary acropachies" EXACT []
synonym: "Hereditary Acropachy" EXACT []
synonym: "Idiopathic Hypertrophic Osteoarthropathy" EXACT []
synonym: "pachydermoperiostosis" EXACT []
synonym: "pachydermoperiostosis, autosomal recessive" EXACT []
synonym: "pachydermoperiostosis of nail" EXACT []
synonym: "pachydermoperiostosis syndrome" EXACT []
synonym: "PDP, autosomal recessive" NARROW []
synonym: "PHO, autosomal recessive" NARROW []
synonym: "primary hypertrophic osteoarthropathy, autosomal recessive" NARROW []
synonym: "Touraine-Solente-Gole syndrome" EXACT []
xref: ICD10CM:M89.4
xref: MESH:D010004
xref: MIM:PS259100
xref: NCI:C85023
is_a: DOID:0080001 ! bone disease
is_a: DOID:225 ! syndrome
is_a: DOID:381 ! arthropathy
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:14284
name: patellofemoral pain syndrome
def: "A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." [MESH:D046788]
synonym: "Anterior Knee Pain Syndrome" EXACT []
synonym: "Patellofemoral Syndrome" EXACT []
xref: EFO:1001092
xref: MESH:D046788
is_a: DOID:225 ! syndrome
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:14286
name: neurogenic arthropathy
def: "Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" [MESH:D001177]
synonym: "Arthropathy associated with neurological disorder" EXACT [ICD9CM_2006:713.5]
synonym: "Charcot's arthropathy" EXACT [SNOMEDCT_2005_07_31:239824003]
synonym: "Charcot's Joint" EXACT []
synonym: "Charcot Joint" EXACT []
synonym: "Charcots Joint" EXACT []
synonym: "Neurogenic Arthropathies" EXACT []
synonym: "Neuropathic arthropathy" EXACT [SNOMEDCT_2005_07_31:201734004]
xref: EFO:1001378
xref: ICD10CM:M14.6
xref: ICD9CM:713.5
xref: MESH:D001177
xref: RDO:0000478
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:14287
name: brawny scleritis
def: "An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. (DO)" [https://en.wikipedia.org/wiki/Scleritis "DO", https://www.aao.org/eye-health/diseases/what-is-scleritis "DO"]
xref: ICD10CM:H15.02
xref: ICD9CM:379.06
is_a: DOID:13794 ! anterior scleritis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14289
name: Ebstein anomaly
alt_id: MIM:224700
def: "A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. (DO)" [http://en.wikipedia.org/wiki/Ebstein_anomaly "DO"]
synonym: "Ebstein's Anomaly" EXACT []
synonym: "Ebstein's anomaly of common atrioventricular valve" EXACT []
synonym: "Ebstein's anomaly of right atrioventricular valve" EXACT []
synonym: "Ebstein's anomaly of tricuspid valve" EXACT []
synonym: "Ebstein's Malformation" EXACT []
synonym: "Ebstein Malformation" EXACT []
synonym: "Ebsteins Anomaly" EXACT []
synonym: "Ebsteins Malformation" EXACT []
synonym: "Familial Ebstein's Anomaly" EXACT []
synonym: "Familial Ebstein Anomaly" EXACT []
synonym: "Familial Ebsteins Anomaly" EXACT []
xref: EFO:0007244
xref: GARD:6313
xref: ICD10CM:Q22.5
xref: ICD9CM:746.2
xref: MESH:D004437
xref: NCI:C84681
is_a: DOID:0050826 ! tricuspid valve disease
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:14291
name: Noonan syndrome with multiple lentigines
def: "A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. (DO)" [https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance "DO", https://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome "DO"]
synonym: "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome" EXACT []
synonym: "Cardiocutaneous syndrome" EXACT []
synonym: "cardio cutaneous syndrome" EXACT []
synonym: "cardio-cutaneous syndromes" EXACT []
synonym: "Cardiomyopathic Lentiginoses" EXACT []
synonym: "Cardiomyopathic Lentiginosis" EXACT []
synonym: "Gorlin syndrome II" EXACT []
synonym: "Lentiginosis Cardiomyopathics" EXACT []
synonym: "Lentiginosis profusa syndrome" EXACT []
synonym: "LEOPARD syndrome" EXACT []
synonym: "LEOPARD Syndromes" EXACT []
synonym: "Moynahan syndrome" EXACT []
synonym: "Multiple Lentigines Syndrome" EXACT []
synonym: "progressive cardiomyopathic lentiginoses" EXACT []
synonym: "progressive cardiomyopathic lentiginosis" EXACT []
xref: GARD:1100
xref: MESH:D044542
xref: MIM:PS151100
xref: NCI:C84820
xref: ORDO:500
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080690 ! RASopathy
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:6420 ! pulmonary valve stenosis
is_a: DOID:9000319 ! Lentigo
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:14292
name: vulvar dystrophy
def: "A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1449423 "DO"]
synonym: "dystrophy of vulva" EXACT []
xref: ICD10CM:N90.4
xref: ICD9CM:624.0
xref: NCI:C34565
is_a: DOID:2059 ! vulvar disease

[Term]
id: DOID:14305
name: tuberculous empyema
def: "A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. (DO)" [http://erj.ersjournals.com/cgi/reprint/10/4/942 "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=empyema "DO"]
synonym: "tuberculous empyemas" EXACT []
synonym: "tuberculous pleural empyema" EXACT []
xref: EFO:0007528
xref: MESH:D004654
xref: NCI:C34575
is_a: DOID:106 ! pleural tuberculosis
is_a: DOID:3798 ! pleural empyema

[Term]
id: DOID:14308
name: skin epithelioid hemangioma
synonym: "Angiolymphoid Cutaneous hyperplasia" EXACT [NCI2004_11_17:C7393]
synonym: "epithelioid hemangioma of skin" EXACT [SNOMEDCT_2005_07_31:254791004]
xref: EFO:1001424
xref: NCI:C7393
is_a: DOID:471 ! skin hemangioma
is_a: DOID:474 ! histiocytoid hemangioma

[Term]
id: DOID:14319
name: pleuropneumonia
def: "A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria. (DO)" [http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=pleural%20pneumonia&alt=sh "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia "DO"]
synonym: "pleuropneumonias" EXACT []
xref: MESH:D011001
is_a: DOID:10247 ! pleurisy
is_a: DOID:552 ! pneumonia

[Term]
id: DOID:1432
name: blindness
def: "An eye disease characterized by a lack or loss of vision. (DO)" [https://en.wikipedia.org/wiki/Visual_impairment "DO", https://nei.nih.gov/eyedata/blind "DO", https://www.cdc.gov/healthcommunication/toolstemplates/entertainmented/tips/Blindness.html "DO"]
synonym: "acquired blindness" EXACT []
synonym: "amauroses" EXACT []
synonym: "amaurosis" EXACT []
synonym: "antidepressant-induced visual impairment" NARROW []
synonym: "Complete Blindness" EXACT []
synonym: "Hysterical Blindness" EXACT []
synonym: "legal blindness" EXACT []
synonym: "monocular blindness" EXACT []
synonym: "transient blindness" EXACT []
synonym: "vision impairment" EXACT []
synonym: "vision loss" EXACT []
xref: EFO:0006323
xref: ICD10CM:H54
xref: ICD9CM:369
xref: MESH:D001766
is_a: DOID:5614 ! eye disease
is_a: DOID:9000343 ! Vision Disorders

[Term]
id: DOID:14320
name: generalized anxiety disorder
def: "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. (DO)" [http://en.wikipedia.org/wiki/Anxiety_disorder "DO"]
xref: EFO:1001892
xref: ICD10CM:F41.1
xref: ICD9CM:300.02
xref: NCI:C92622
xref: RDO:9002663
is_a: DOID:2030 ! anxiety disorder
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:14323
name: Marfan syndrome
alt_id: MIM:154700
def: "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. (DO)" [https://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807 "DO", https://rarediseases.org/rare-diseases/marfan-syndrome/ "DO"]
synonym: "Marfan's syndrome" EXACT []
synonym: "Marfanoid habitus" RELATED []
synonym: "Marfans syndrome" EXACT []
synonym: "Marfan syndrome, atypical" NARROW []
synonym: "Marfan Syndrome, Incomplete" NARROW []
synonym: "Marfan syndrome, mild variable" NARROW []
synonym: "Marfan syndrome, neonatal" NARROW []
synonym: "Marfan syndrome, severe classic" NARROW []
synonym: "Marfan syndrome, type I" EXACT []
synonym: "MFS" EXACT []
synonym: "MFS1" EXACT []
xref: GARD:6975
xref: ICD10CM:Q87.4
xref: ICD10CM:Q87.40
xref: ICD9CM:759.82
xref: MESH:D008382
xref: NCI:C34807
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:520 ! aortic disease
is_a: DOID:5614 ! eye disease
is_a: DOID:630 ! genetic disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:14324
name: Plasmodium malariae malaria
def: "A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malariae%20malaria "DO"]
synonym: "Malaria by Plasmodium malariae" EXACT [MTHICD9_2006:084.2]
synonym: "Quartan Malaria" EXACT [NCI2004_11_17:C34799]
xref: ICD10CM:B52
xref: ICD9CM:084.2
xref: NCI:C34799
xref: RDO:9003908
is_a: DOID:12365 ! malaria
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:14325
name: mixed malaria
def: "A malaria that involves infection with more than one species of Plasmodium at the same time. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15105024 "DO"]
synonym: "malaria by more than one parasite" EXACT []
synonym: "malaria fever by more than one parasite" EXACT []
xref: ICD9CM:084.5
is_a: DOID:12365 ! malaria
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:14330
name: Parkinson's disease
def: "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. (DO)" [http://en.wikipedia.org/wiki/Parkinson%27s_disease "DO", https://pubmed.ncbi.nlm.nih.gov/26474316/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877503/ "DO"]
synonym: "familial Parkinson's disease" NARROW []
synonym: "Idiopathic Parkinson's Disease" EXACT []
synonym: "idiopathic Parkinson disease" EXACT []
synonym: "Lewy Body Parkinson's Disease" EXACT []
synonym: "Lewy Body Parkinson Disease" EXACT []
synonym: "Paralysis Agitans" EXACT []
synonym: "PARKINSON'S DISEASE, DOMINANT" EXACT []
synonym: "PARKINSON'S DISEASE, DOMINANT/RECESSIVE" EXACT []
synonym: "PARKINSON'S DISEASE, RECESSIVE" EXACT []
synonym: "Parkinson's disease, resistance to" RELATED []
synonym: "Parkinson's disease, susceptibility to" RELATED []
synonym: "Parkinson Disease" EXACT []
synonym: "PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO" RELATED []
synonym: "PARKINSON DISEASE, DOMINANT" NARROW []
synonym: "PARKINSON DISEASE, DOMINANT/RECESSIVE" EXACT []
synonym: "PARKINSON DISEASE, RECESSIVE" NARROW []
synonym: "PARKINSON DISEASE, RESISTANCE TO" RELATED []
synonym: "Parkinson Disease, Susceptibility To" RELATED []
synonym: "PARKINSONISM/MELAS OVERLAP SYNDROME" NARROW []
synonym: "primary parkinsonism" EXACT []
xref: EFO:0002508
xref: GARD:10251
xref: ICD9CM:332
xref: MESH:D010300
xref: MIM:PS168600
xref: MONDO:0005180
xref: NCI:C26845
xref: ORDO:2828
is_a: DOID:0050890 ! synucleinopathy
is_a: DOID:0080855 ! Parkinsonism

[Term]
id: DOID:14332
name: postencephalitic Parkinson disease
def: "Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)" [MESH:D010301]
synonym: "encephalitis lethargica type parkinsonism" EXACT []
synonym: "Parkinson's Disease, Postencephalitic" EXACT []
synonym: "Postencephalitic Economo Type Parkinsonism" EXACT []
synonym: "Post Encephalitic Parkinson's Disease" EXACT []
synonym: "Post Encephalitic Parkinson Disease" EXACT []
synonym: "Postencephalitic Parkinsonism" EXACT []
synonym: "Postencephalitis Parkinsonian Syndrome" EXACT []
synonym: "viral meningoencephalitic parkinsonism" EXACT []
synonym: "viral meningoencephalitic parkinsonisms" EXACT []
synonym: "von Economo encephalitis type parkinsonism" EXACT []
xref: EFO:1001402
xref: ICD10CM:G21.3
xref: MESH:D010301
xref: NCI:C34898
is_a: DOID:13548 ! secondary Parkinson disease

[Term]
id: DOID:14336
name: estrogen excess
def: "An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen. (DO)" [https://www.icd10data.com/ICD10CM/Codes/E00-E89/E20-E35/E28-/E28.0 "DO"]
synonym: "hyperestrogenism" EXACT []
xref: EFO:0009004
xref: ICD10CM:E28.0
xref: ICD9CM:256.0
xref: NCI:C113344
xref: RDO:9003783
is_a: DOID:1414 ! ovarian dysfunction
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:14350
name: suppurative thyroiditis
def: "Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS." [MESH:D013969]
synonym: "acute infectious thyroiditides" EXACT []
synonym: "Acute Infectious Thyroiditis" EXACT []
synonym: "Acute Suppurative Thyroiditides" EXACT []
synonym: "Acute Suppurative Thyroiditis" EXACT []
synonym: "Infectious Thyroiditides" EXACT []
synonym: "Infectious Thyroiditis" EXACT []
synonym: "suppurative thyroiditides" EXACT []
xref: EFO:1001431
xref: MESH:D013969
xref: NCI:C129724
is_a: DOID:7166 ! thyroiditis
is_a: DOID:9005889 ! Suppuration

[Term]
id: DOID:14351
name: Riedel's fibrosing thyroiditis
synonym: "Riedel fibrosing thyroiditis" EXACT []
xref: ICD10CM:E06.5
xref: NCI:C35827
xref: RDO:9003748
is_a: DOID:9008207 ! Chronic Thyroiditis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:14353
name: acute thyroiditis
xref: ICD10CM:E06.0
xref: ICD9CM:245.0
is_a: DOID:7166 ! thyroiditis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:1436
name: corneal ectasia
xref: ICD10CM:H18.71
xref: ICD9CM:371.71
is_a: DOID:10124 ! corneal disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:14365
name: systemic primary carnitine deficiency disease
alt_id: MIM:212140
def: "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. (DO)" [http://en.wikipedia.org/wiki/Carnitine_deficiency "DO"]
synonym: "carnitine transporter deficiency" EXACT []
synonym: "carnitine transporter, plasma-membrane, deficiency of" EXACT []
synonym: "Carnitine uptake defect" EXACT []
synonym: "Carnitine Uptake Deficiency" EXACT []
synonym: "CDSP" EXACT []
synonym: "CUD" EXACT []
synonym: "primary carnitine deficiency" EXACT []
synonym: "renal carnitine transport defect" EXACT []
synonym: "SCD" EXACT []
synonym: "systemic carnitine deficiency" EXACT []
synonym: "systemic carnitine deficiency due to defect in renal reabsorption of carnitine" EXACT []
synonym: "systemic primary carnitine deficiency" EXACT []
xref: ICD10CM:E71.41
xref: ICD9CM:277.81
xref: MESH:C536778
xref: NCI:C98864
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9008972 ! Hyperammonemia
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:14374
name: norwegian scabies
def: "A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm "DO"]
synonym: "crusted scabies" EXACT []
xref: NCI:C34855
is_a: DOID:8295 ! scabies
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:14384
name: parietal lobe neoplasm
def: "A cerebrum cancer that is located_in the parietal lobe. (DO)" [http://en.wikipedia.org/wiki/Parietal_lobe "DO"]
synonym: "malignant neoplasm of parietal lobe" EXACT []
synonym: "tumor of parietal lobe" EXACT []
xref: ICD10CM:C71.3
xref: ICD9CM:191.3
xref: NCI:C5573
is_a: DOID:368 ! cerebrum cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:1439
name: pyuria
def: "The presence of white blood cells (LEUKOCYTES) in the urine. It is often associated with bacterial infections of the urinary tract. Pyuria without BACTERIURIA can be caused by TUBERCULOSIS, stones, or cancer." [MESH:D011776]
synonym: "pus cells in urine" EXACT []
synonym: "pyurias" EXACT []
xref: ICD10CM:R82.81
xref: MESH:D011776
xref: NCI:C119028
is_a: DOID:0080784 ! urinary tract infection
is_a: DOID:18 ! urinary system disease

[Term]
id: DOID:14392
name: thrombophlebitis migrans
def: "A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. (DO)" [http://en.wikipedia.org/wiki/Thrombophlebitis "DO"]
xref: ICD10CM:I82.1
xref: ICD9CM:453.1
is_a: DOID:3875 ! thrombophlebitis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:14397
name: protozoal dysentery
def: "A dysentery that involves protozoan infection. (DO)" [http://en.wikipedia.org/wiki/Dysentery "DO"]
xref: ICD10CM:A07.8
xref: ICD9CM:007.8
is_a: DOID:12384 ! dysentery

[Term]
id: DOID:1440
name: Machado-Joseph disease
def: "An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. (DO)" [http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease "DO", http://omim.org/entry/109150 "DO", http://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract "DO"]
synonym: "autosomal dominant striatonigral degeneration" EXACT []
synonym: "Azorean ataxia" EXACT []
synonym: "Azorean disease" EXACT []
synonym: "Azorean Neurologic Disease" EXACT []
synonym: "Joseph Azorean Disease" EXACT []
synonym: "Joseph Disease" EXACT []
synonym: "Machado Joseph Azorean Disease" EXACT []
synonym: "Machado Joseph Disease Type I" EXACT []
synonym: "Machado Joseph Disease Type II" EXACT []
synonym: "Machado Joseph Disease Type III" EXACT []
synonym: "Machado Joseph Disease Type IV" EXACT []
synonym: "MJD" EXACT []
synonym: "Nervous System Azorean Disease" EXACT []
synonym: "Nigrospinodentatal Degeneration" EXACT []
synonym: "nigrospinodentatal degenerations" EXACT []
synonym: "SCA3" EXACT []
synonym: "Spinocerebellar Ataxia 3" EXACT []
synonym: "spinocerebellar ataxia type 3" EXACT []
synonym: "spinocerebellar atrophy III" EXACT []
synonym: "spinocerebellar atrophy type 3" EXACT []
synonym: "spinopontine atrophy" EXACT []
xref: EFO:0004135
xref: GARD:6801
xref: MESH:D017827
xref: MIM:109150
xref: MONDO:0007182
xref: NCI:C84830
xref: ORDO:98757
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:14400
name: capillary leak syndrome
def: "A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5481509/ "DO"]
synonym: "capillary leak syndromes" EXACT []
synonym: "Clarkson disease" EXACT []
synonym: "clinical capillary leak syndrome" EXACT []
synonym: "systemic capillary leak syndrome" EXACT []
xref: EFO:1001284
xref: EFO:1001477
xref: GARD:1084
xref: MESH:D019559
xref: NCI:C62578
xref: ORDO:188
is_a: DOID:1271 ! capillary disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:14402
name: critical illness polyneuropathy
xref: ICD10CM:G62.81
xref: ICD9CM:357.82
xref: RDO:9002724
is_a: DOID:2537 ! inflammatory and toxic neuropathy
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:1441
name: autosomal dominant cerebellar ataxia
def: "A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK1138/ "DO", http://www.ncbi.nlm.nih.gov/books/NBK22234/ "DO"]
xref: MIM:PS164400
xref: NCI:C82341
xref: ORDO:94
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050753 ! cerebellar ataxia
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:14413
name: labyrinthine bilateral reactive loss
synonym: "bilateral loss of labyrinthine reactivity" EXACT []
xref: ICD9CM:386.56
is_a: DOID:566 ! labyrinthine dysfunction
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:14415
name: Legg-Calve-Perthes disease
alt_id: MIM:150600
def: "An osteochondrosis that results_in death and fracture located_in hip joint. (DO)" [http://en.wikipedia.org/wiki/Legg%E2%80%93Calv%C3%A9%E2%80%93Perthes_syndrome "DO"]
synonym: "Calve - Perthes' disease" EXACT []
synonym: "coxa plana" EXACT []
synonym: "Juvenile osteochond-hip/pelvis" EXACT []
synonym: "juvenile osteochondrosis of hip and/or pelvis" EXACT []
synonym: "juvenile osteochondrosis of hip and pelvis" EXACT []
synonym: "LCP" EXACT []
synonym: "LCPD" EXACT []
synonym: "Legg-Calve-Perthes symptom" RELATED []
synonym: "Legg Calve Perthes Syndrome" EXACT []
synonym: "Legg Calvé Perthes Disease" EXACT []
synonym: "Legg Calvé Perthes Syndrome" EXACT []
synonym: "Legg Perthes Disease" EXACT []
synonym: "Osteochondritis Deforman" EXACT []
synonym: "Osteochondritis Deformans" EXACT []
synonym: "osteochondrosis of Legg-Calve-Perthes" EXACT []
synonym: "Perthe's disease" EXACT []
synonym: "Perthes disease" EXACT []
synonym: "pseudocoxalgia" EXACT []
xref: EFO:0007341
xref: GARD:6874
xref: ICD10CM:M91.2
xref: ICD10CM:M91.3
xref: MESH:D007873
xref: MONDO:0007885
xref: NCI:C34766
is_a: DOID:8125 ! osteochondrosis
is_a: DOID:9003049 ! Femur Head Necrosis

[Term]
id: DOID:14418
name: dracunculiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. (DO)" [http://en.wikipedia.org/wiki/Dracunculiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Dracunculiasis.htm "DO"]
synonym: "dracontiasis" EXACT []
synonym: "dracunculiases" EXACT []
synonym: "Dracunculoses" EXACT []
synonym: "Dracunculosis" EXACT []
synonym: "Guinea Worm Disease" EXACT []
synonym: "Guinea Worm Diseases" EXACT []
synonym: "Guinea Worm Infection" EXACT []
synonym: "infection by Dracunculus medinensis" EXACT []
xref: EFO:0007241
xref: GARD:6286
xref: ICD10CM:B72
xref: ICD9CM:125.7
xref: MESH:D004320
xref: NCI:C84677
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:9003105 ! Spirurida Infections

[Term]
id: DOID:14422
name: dipetalonemiasis
def: "A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. (DO)" [http://books.google.com/books?id=OBZbR4vpg0YC&pg=PA158&lpg#v=onepage&q&f=false "DO"]
synonym: "dipetalonema infection" EXACT []
synonym: "dipetalonema Infections" EXACT []
synonym: "dipetalonema infectious disease" EXACT []
synonym: "dipetalonemiases" EXACT []
synonym: "infection by dipetalonema" EXACT []
synonym: "infection by dipetalonema perstans" EXACT []
xref: EFO:0007237
xref: ICD9CM:125.4
xref: MESH:D004154
xref: NCI:C34540
is_a: DOID:1080 ! filariasis
is_a: DOID:37 ! skin disease
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:14423
name: glossopharyngeal neuralgia
synonym: "glossopharyngeal neuralgias" EXACT []
xref: GARD:6519
xref: ICD10CM:G52.1
xref: ICD9CM:352.1
is_a: DOID:3418 ! glossopharyngeal nerve disease
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:14427
name: abnormality of glucagon secretion
synonym: "glucagon secretion abnormality" EXACT []
xref: ICD9CM:251.4
is_a: DOID:1428 ! endocrine pancreas disease

[Term]
id: DOID:1443
name: cerebral degeneration
def: "A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue. (DO)" [https://en.wikipedia.org/wiki/Neurodegeneration "DO"]
synonym: "brain degeneration" EXACT []
xref: GARD:6019
xref: ICD9CM:331.9
is_a: DOID:936 ! brain disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14435
name: chronic tubotympanic suppurative otitis media
def: "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. (DO)" [http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA101&lpg#v=onepage&q=&f=false "DO"]
xref: ICD10CM:H66.1
xref: ICD9CM:382.1
is_a: DOID:11506 ! suppurative otitis media
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:14443
name: cholinergic urticaria
def: "A physical urticaria induced by sweating. (DO)" [http://en.wikipedia.org/wiki/Cholinergic_urticaria "DO", http://www.dermnetnz.org/reactions/urticaria.html "DO"]
xref: EFO:1000679
xref: ICD10CM:L50.5
xref: ICD9CM:708.5
is_a: DOID:0060220 ! physical urticaria
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:14444
name: sclerosing keratitis
def: "A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. (DO)" [https://www.aao.org/eye-health/diseases/what-is-scleritis "DO"]
synonym: "sclerokeratitis" EXACT []
xref: ICD10CM:H16.33
xref: ICD9CM:370.54
is_a: DOID:13794 ! anterior scleritis
is_a: DOID:9858 ! deep keratitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14445
name: chronic closed-angle glaucoma
def: "A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. (DO)" [https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma "DO"]
synonym: "anatomical narrow angle glaucoma" EXACT []
synonym: "chronic angle-closure glaucoma" EXACT []
synonym: "chronic narrow angle glaucoma" EXACT []
xref: ICD10CM:H40.22
xref: ICD9CM:365.23
is_a: DOID:1405 ! primary angle-closure glaucoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:14447
name: gonadal dysgenesis
alt_id: MIM:600171
def: "A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. (DO)" [http://en.wikipedia.org/wiki/Gonadal_dysgenesis "DO"]
synonym: "gonadal agenesis" EXACT []
synonym: "gonadal dysgenesis syndrome" EXACT []
xref: GARD:2538
xref: ICD9CM:758.6
xref: MESH:D006059
xref: NCI:C61420
is_a: DOID:1923 ! disorder of sexual development
is_a: DOID:1924 ! hypogonadism

[Term]
id: DOID:14448
name: 46,XY sex reversal
def: "A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. (DO)" [http://en.wikipedia.org/wiki/XY_gonadal_dysgenesis "DO", https://ghr.nlm.nih.gov/condition/swyer-syndrome#synonyms "DO"]
synonym: "46,XY Complete Gonadal Dysgenesis" EXACT []
synonym: "46,XY DSD/46,XY CGD" EXACT []
synonym: "46 XY gonadal dysgenesis" EXACT []
synonym: "46, XY Gonadal Sex Reversal" EXACT []
synonym: "Pure Gonadal Dysgenesis 46,XY" EXACT []
synonym: "Swyer Syndrome" EXACT []
synonym: "XY pure gonadal dysgenesis" EXACT []
xref: MESH:D006061
xref: MIM:PS400044
xref: NCI:C120198
xref: ORDO:242
is_a: DOID:14447 ! gonadal dysgenesis
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development

[Term]
id: DOID:14449
name: mixed gonadal dysgenesis
def: "A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis. (DO)" [https://www.pathologyoutlines.com/topic/ovarynontumormixedgonadaldysgenesis.html "DO"]
xref: MESH:D006060
xref: NCI:C120199
is_a: DOID:14447 ! gonadal dysgenesis
is_a: DOID:9003262 ! Sex Chromosome Disorders of Sex Development

[Term]
id: DOID:14450
name: 46 XX gonadal dysgenesis
alt_id: DOID:9004526
def: "A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. (DO)" [http://en.wikipedia.org/wiki/XX_gonadal_dysgenesis "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=243 "DO"]
synonym: "Gonadal Dysgenesis, XX Type" EXACT []
synonym: "Ovarian Dysgenesis" EXACT []
synonym: "Pure Gonadal Dysgenesis, 46,XX" EXACT []
synonym: "XXGD" EXACT []
synonym: "XX Gonadal Dysgenesis" EXACT []
xref: MESH:D023961
xref: MIM:PS233300
xref: NCI:C120197
xref: ORDO:243
is_a: DOID:14447 ! gonadal dysgenesis
is_a: DOID:9005851 ! 46, XX Disorders of Sex Development
is_a: DOID:9006101 ! Primary Ovarian Failure

[Term]
id: DOID:14451
name: hyperkalemic periodic paralysis
alt_id: MIM:170500
alt_id: RDO:0000513
def: "An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)" [MESH:D020513]
synonym: "Adynamia Episodica Hereditaria" EXACT []
synonym: "Adynamia Episodica Hereditaria with or without Myotonia" EXACT []
synonym: "Familial Hyperkalemic Periodic Paralysis" EXACT []
synonym: "Gamstorp Disease" EXACT []
synonym: "GAMSTORP DISEASE NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE" NARROW []
synonym: "Gamstorp Episodic Adynamy" EXACT []
synonym: "HYPERKALEMIC PERIODIC PARALYSIS TYPE 1" EXACT []
synonym: "Hyperkalemic Periodic Paralysis Type 2" EXACT []
synonym: "Hyperkaliemic Periodic Paralysis Type 2" EXACT []
synonym: "HyperKPP" EXACT []
synonym: "HyperPP" EXACT []
synonym: "HYPP" EXACT []
synonym: "Myotonic Periodic Paralysis" EXACT []
synonym: "PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS" NARROW []
synonym: "Primary Hyperkalemic Periodic Paralysis" EXACT []
synonym: "Sodium Channel Muscle Disease" EXACT []
xref: GARD:195
xref: ICD10CM:G72.3
xref: MESH:D020513
xref: NCI:C123429
xref: ORDO:682
is_a: DOID:1029 ! familial periodic paralysis

[Term]
id: DOID:14452
name: hypokalemic periodic paralysis
def: "An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. The condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. Symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (Adams et al., Principles of Neurology, 6th ed, p1483)" [MESH:D020514]
synonym: "familial hypokalemic periodic paralysis" EXACT []
synonym: "familial periodic paralysis" EXACT []
synonym: "HOKPP" EXACT []
synonym: "HYPOKPP" EXACT []
synonym: "HYPOPP" EXACT []
synonym: "Periodic Paralysis- Hypokalemics" EXACT []
synonym: "periodic paralysis I" EXACT []
synonym: "Primary Hypokalemic Periodic Paralysis" EXACT []
synonym: "Westphall disease" EXACT []
xref: GARD:5557
xref: GARD:6729
xref: MESH:D020514
xref: NCI:C84775
xref: ORDO:681
is_a: DOID:1029 ! familial periodic paralysis

[Term]
id: DOID:14453
name: farmer's lung
def: "An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. (DO)" [http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf "DO", http://www.merriam-webster.com/dictionary/farmer%27s%20lung "DO"]
synonym: "farmer's lungs" EXACT []
synonym: "farmer lung" EXACT []
synonym: "farmers lung" EXACT []
xref: GARD:6427
xref: ICD10CM:J67.0
xref: ICD9CM:495.0
xref: MESH:D005203
xref: NCI:C34605
is_a: DOID:841 ! extrinsic allergic alveolitis
is_a: DOID:9006538 ! Agricultural Workers' Diseases

[Term]
id: DOID:14456
name: Brucella melitensis brucellosis
def: "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. (DO)" [http://www.bmj.com/cgi/reprint/1/5644/612.pdf "DO"]
xref: ICD10CM:A23.0
xref: ICD9CM:023.0
is_a: DOID:11077 ! brucellosis
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:14457
name: Brucella abortus brucellosis
def: "A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. (DO)" [http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/10790142 "DO"]
synonym: "Bang's disease" EXACT []
synonym: "Bang disease" EXACT []
synonym: "Bangs disease" EXACT []
synonym: "bovine brucelloses" EXACT []
synonym: "bovine brucellosis" EXACT []
xref: ICD10CM:A23.1
xref: ICD9CM:023.1
xref: MESH:D002007
is_a: DOID:11077 ! brucellosis
is_a: DOID:9001718 ! Veterinary Abortion
is_a: DOID:9004723 ! Cattle Diseases

[Term]
id: DOID:14459
name: hemangioma of orbit
synonym: "angioma of the orbit" EXACT [NCI2004_11_17:C6245]
xref: NCI:C6245
xref: RDO:9004226
is_a: DOID:0060096 ! sensory organ benign neoplasm
is_a: DOID:255 ! hemangioma
is_a: DOID:9002262 ! Orbital Neoplasms
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:14463
name: cavernous hemangioma of orbit
synonym: "cavernous angioma of orbit" EXACT []
xref: NCI:C4546
is_a: DOID:483 ! cavernous hemangioma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:14464
name: neuroleptic malignant syndrome
def: "A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers. (DO)" [http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12561 "DO"]
synonym: "Neuroleptic Induced Neuroleptic Malignant Syndrome" EXACT []
synonym: "Neuroleptic Malignant Syndromes" EXACT []
synonym: "NMS (Neuroleptic Malignant Syndrome)" EXACT []
xref: EFO:1001379
xref: GARD:7195
xref: ICD10CM:G21.0
xref: ICD9CM:333.92
xref: MESH:D009459
xref: NCI:C94829
xref: ORDO:94093
is_a: DOID:3602 ! toxic encephalopathy
is_a: DOID:679 ! basal ganglia disease

[Term]
id: DOID:14472
name: hantavirus pulmonary syndrome
def: "A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. (DO)" [http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false "DO", http://www.cdc.gov/ncidod/diseases/hanta/hps/noframes/generalinfoindex.htm "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/10742726 "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hantavirus%20pulmonary%20syndrome "DO"]
synonym: "Hantavirus Associated Respiratory Distress Syndrome" EXACT []
synonym: "Hantavirus Pulmonary Syndromes" EXACT []
synonym: "HARDS" EXACT []
xref: EFO:0007296
xref: GARD:69
xref: MESH:D018804
xref: NCI:C84747
is_a: DOID:11162 ! respiratory failure
is_a: DOID:225 ! syndrome
is_a: DOID:9007533 ! Hantavirus Infections

[Term]
id: DOID:14482
name: pemphigoid gestationis
def: "A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062810/ "DO"]
synonym: "gestational herpes" EXACT []
synonym: "gestational pemphigoid" EXACT []
synonym: "gestational pemphigoids" EXACT []
synonym: "herpes gestationis" EXACT []
synonym: "pemphigoid gestationi" EXACT []
xref: EFO:1000709
xref: ICD10CM:O26.40
xref: MESH:D006559
xref: NCI:C85003
is_a: DOID:0080841 ! pemphigoid
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:14483
name: chorea gravidarum
def: "A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" [MESH:D020150]
synonym: "chorea gravidarums" EXACT []
synonym: "Pregnancy-Associated Choreoathetoses" EXACT []
synonym: "Pregnancy-Associated Choreoathetosis" EXACT []
synonym: "Pregnancy-Induced Chorea" EXACT []
synonym: "pregnancy-induced choreas" EXACT []
xref: EFO:1001290
xref: MESH:D020150
is_a: DOID:12859 ! choreatic disease
is_a: DOID:679 ! basal ganglia disease
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:14484
name: sporotrichosis
def: "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. (DO)" [https://www.health.ny.gov/diseases/communicable/sporotrichosis/fact_sheet.htm "DO"]
synonym: "sporotrichoses" EXACT []
xref: EFO:0007494
xref: GARD:7692
xref: ICD10CM:B42
xref: ICD9CM:117.1
xref: MESH:D013174
is_a: DOID:0050292 ! primary systemic mycosis
is_a: DOID:1563 ! dermatomycosis

[Term]
id: DOID:14489
name: ureteral lymphoma
synonym: "lymphoma of ureter" EXACT []
xref: NCI:C6175
is_a: DOID:0060058 ! lymphoma
is_a: DOID:11819 ! ureter cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:14491
name: regional ureteric cancer
synonym: "regional malignant ureteral tumor" EXACT []
synonym: "regional ureteric carcinoma" EXACT []
xref: NCI:C8716
xref: NCI:C9356
is_a: DOID:4939 ! ureter carcinoma

[Term]
id: DOID:14495
name: dumping syndrome
def: "Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus." [MESH:D004377]
synonym: "Dumping (jejunal) syndrome" EXACT [SNOMEDCT_2005_07_31:197128007]
synonym: "Dumping Syndromes" EXACT []
synonym: "Jejunal syndrome" EXACT [MTHICD9_2006:564.2]
xref: EFO:1001307
xref: ICD10CM:K91.1
xref: MESH:D004377
xref: NCI:C2994
xref: RDO:0005396
is_a: DOID:8439 ! postgastrectomy syndrome

[Term]
id: DOID:14497
name: Wolman disease
alt_id: MIM:620151
def: "A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life. (DO)" [https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK395569/ "DO", MESH:D015223]
synonym: "acid cholesteryl ester hydrolase deficiency, Wolman type" EXACT []
synonym: "acid esterase deficiency" EXACT []
synonym: "acid lipase deficiency" EXACT []
synonym: "acute infantile lysosomal acid lipase deficiency" EXACT []
synonym: "complete cholesterol ester hydrolase deficiency" EXACT []
synonym: "complete lysosomal acid lipase deficiency" EXACT []
synonym: "familial xanthomatoses" EXACT []
synonym: "familial xanthomatosis" EXACT []
synonym: "LAL deficiency, complete" EXACT []
synonym: "LIPA deficiency, complete" EXACT []
synonym: "liposomal acid lipase deficiency, Wolman type" EXACT []
synonym: "WOLD" EXACT []
synonym: "Wolman's disease" EXACT []
synonym: "Wolman's or triglyceride storage type III disease" EXACT []
synonym: "Wolman's xanthomatosis" EXACT []
synonym: "Wolmans disease" EXACT []
synonym: "Wolmans xanthomatosis" EXACT []
synonym: "Wolman xanthomatosis" EXACT []
xref: GARD:7899
xref: ICD10CM:E75.5
xref: MESH:D015223
xref: NCI:C61271
xref: ORDO:75233
is_a: DOID:0080217 ! lysosomal acid lipase deficiency
is_a: DOID:14502 ! cholesterol ester storage disease
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:14498
name: lipoid proteinosis
alt_id: MIM:247100
def: "An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN." [MESH:D008065]
synonym: "hyalinosis cutis et mucosae" EXACT []
synonym: "lipid proteinosis" EXACT []
synonym: "Lipoidproteinosis" EXACT []
synonym: "Lipoid Proteinosis of Urbach and Wiethe" EXACT []
synonym: "Lipoproteinosis" EXACT []
synonym: "Urbach Wiethe Disease" EXACT []
synonym: "Urbach-Wiethe lipoid proteinosis" EXACT []
synonym: "Urbach-Wiethe syndrome" EXACT []
xref: GARD:3268
xref: MESH:D008065
xref: NCI:C84829
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9008513 ! Hoarseness

[Term]
id: DOID:14499
name: Fabry disease
alt_id: MIM:301500
def: "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. (DO)" [https://ghr.nlm.nih.gov/condition/fabry-disease "DO"]
synonym: "alpha galactosidase A deficiency" EXACT []
synonym: "alpha galactosidase A deficiency disease" EXACT []
synonym: "alpha galactosidase deficiency" EXACT []
synonym: "Anderson-Fabry disease" EXACT []
synonym: "angiokeratoma corporis diffusum" EXACT []
synonym: "angiokeratoma diffuse" EXACT []
synonym: "ceramide trihexosidase deficiency" EXACT []
synonym: "deficiency of melibiase" EXACT []
synonym: "Fabry's disease" EXACT []
synonym: "GLA deficiency" EXACT []
synonym: "hereditary dystopic lipidosis" EXACT []
xref: GARD:6400
xref: ICD10CM:E75.21
xref: MESH:D000795
xref: NCI:C84701
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0112313 ! brain small vessel disease
is_a: DOID:1927 ! sphingolipidosis

[Term]
id: DOID:14500
name: fucosidosis
alt_id: MIM:230000
alt_id: OMIA:000396
def: "An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)" [MESH:D005645]
synonym: "A-fucosidase deficiency" EXACT []
synonym: "alpha-fucosidase deficiency" EXACT []
synonym: "alpha Fucosidase Deficiency Disease" EXACT []
synonym: "alpha-Fucosidase Deficiency Diseases" EXACT []
synonym: "alpha-L-Fucosidase Deficiency" EXACT []
synonym: "alpha L Fucosidase Deficiency Disease" EXACT []
synonym: "alpha-L-Fucosidase Deficiency Diseases" EXACT []
synonym: "FUCA1-RELATED CONDITION" EXACT []
synonym: "Fucosidase Deficiency" EXACT []
synonym: "Fucosidase Deficiency Disease" EXACT []
synonym: "Fucosidase Deficiency Diseases" EXACT []
synonym: "Fucosidosis, alpha" EXACT []
synonym: "fucosidosis type 1" NARROW []
synonym: "fucosidosis type I" NARROW []
synonym: "fucosidosis type II" NARROW []
synonym: "infantile fucosidosis" EXACT []
synonym: "juvenile fucosidosis" EXACT []
xref: GARD:6473
xref: ICD10CM:E77.1
xref: MESH:D005645
xref: NCI:C61274
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:9008012 ! Lysosomal Storage Diseases, Nervous System

[Term]
id: DOID:14501
name: Sjogren-Larsson syndrome
alt_id: MIM:270200
def: "A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. (DO)" [https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome "DO", https://www.omim.org/entry/270200 "DO"]
synonym: "ALDH3A2-RELATED CONDITION" EXACT []
synonym: "congenital icthyosis, mental retardation, spasticity syndrome" EXACT []
synonym: "FALDH deficiency" EXACT []
synonym: "fatty acid alcohol oxidoreductase deficiency" EXACT []
synonym: "Fatty Alcohol:NAD+ Oxidoreductase Deficiency" EXACT []
synonym: "Fatty Aldehyde Dehydrogenase Deficiency" EXACT []
synonym: "fatty aldehyde dehydrogenase deficiency disease" EXACT []
synonym: "ichthyosis oligophrenia syndrome" EXACT []
synonym: "ichthyosis, spastic neurologic disorder, and oligophrenia" EXACT []
synonym: "Sjogren-Larsson's syndrome" EXACT []
synonym: "Sj�gren-Larsson syndrome" EXACT []
synonym: "SLS" EXACT []
xref: GARD:7654
xref: MESH:D016111
xref: NCI:C85070
xref: ORDO:816
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:14502
name: cholesterol ester storage disease
alt_id: MIM:278000
def: "A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen. (DO)" [https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK395569/ "DO", MESH:D015217]
synonym: "cholesteryl ester storage disease" EXACT []
synonym: "partial cholesterol ester hydrolase deficiency" EXACT []
synonym: "partial LAL deficiency" EXACT []
synonym: "partial LIPA deficiency" EXACT []
synonym: "partial lysosomal acid lipase deficiency" EXACT []
xref: GARD:12099
xref: MESH:D015217
xref: ORDO:75234
is_a: DOID:0080217 ! lysosomal acid lipase deficiency

[Term]
id: DOID:14503
name: neuronal ceroid lipofuscinosis
alt_id: OMIA:001503
alt_id: OMIA:001552
def: "A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure." [MESH:D009472]
synonym: "adult neuronal ceroid lipofuscinosis" NARROW []
synonym: "amaurotic idiocy, adult type" NARROW []
synonym: "Batten Mayou Disease" EXACT []
synonym: "Ceroid Storage Disease" EXACT []
synonym: "Ceroid Storage Diseases" EXACT []
synonym: "hereditary ceroid lipofuscinosis" EXACT []
synonym: "Infantile Neuronal Ceroid Lipofuscinosis" NARROW []
synonym: "Jansky Bielschowsky Disease" EXACT []
synonym: "Juvenile Cerebroretinal Degeneration" NARROW []
synonym: "Juvenile Cerebroretinal Degenerations" NARROW []
synonym: "Kuf's disease" EXACT []
synonym: "Kuf's Diseases" EXACT []
synonym: "Kuf Disease" EXACT []
synonym: "Kufs disease" EXACT []
synonym: "Kufs Disease Autosomal Recessive" EXACT []
synonym: "Kufs Type Neuronal Ceroid Lipofuscinosis" EXACT []
synonym: "Late-Infantile Neuronal Ceroid Lipofuscinosis" NARROW []
synonym: "Lipofuscin Storage Disease" EXACT []
synonym: "lipofuscin storage diseases" EXACT []
synonym: "neuronal ceroid lipofuscinoses" EXACT []
synonym: "neuronal ceroid lipofuscinosis, 12" NARROW []
synonym: "neuronal ceroid lipofuscinosis, adult type" NARROW []
xref: EFO:0003111
xref: EFO:0003112
xref: GARD:10739
xref: MESH:D009472
xref: MIM:PS256730
xref: MONDO:0015674
xref: MONDO:0016295
xref: NCI:C61257
xref: ORDO:216
xref: ORDO:79262
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:14504
name: Niemann-Pick disease
def: "A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. (DO)" [https://en.wikipedia.org/wiki/Niemann-Pick_disease "DO", https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease "DO"]
synonym: "ACID SPHINGOMYELINASE DEFICIENCY" NARROW []
synonym: "lipoid histiocytosis" EXACT []
synonym: "Niemann Pick diseases" EXACT []
synonym: "sphingomyelinase deficiencies" EXACT []
synonym: "sphingomyelinase deficiency" EXACT []
synonym: "sphingomyelinase deficiency disease" EXACT []
synonym: "sphingomyelin lipidosis" EXACT []
xref: EFO:1001380
xref: GARD:13334
xref: ICD10CM:E75.24
xref: MESH:D009542
xref: NCI:C61269
is_a: DOID:1927 ! sphingolipidosis
is_a: DOID:4330 ! non-Langerhans-cell histiocytosis

[Term]
id: DOID:14507
name: peripheral degeneration of cornea
synonym: "peripheral degenerations of cornea" EXACT []
xref: ICD10CM:H18.46
xref: ICD9CM:371.48
is_a: DOID:1237 ! corneal degeneration
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:14512
name: candidal paronychia
def: "A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884921/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323378/ "DO"]
synonym: "candidiasis of skin" EXACT []
synonym: "candidiasis of skin and nails" EXACT []
xref: ICD10CM:B37.2
xref: ICD9CM:112.3
is_a: DOID:1508 ! candidiasis
is_a: DOID:4123 ! nail disease

[Term]
id: DOID:14515
name: WAGR syndrome
def: "A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. (DO)" [http://en.wikipedia.org/wiki/WAGR_syndrome "DO"]
synonym: "11p partial monosomy syndrome" EXACT []
synonym: "Chromosome 11p13 Deletion Syndrome" EXACT []
synonym: "WAGR" EXACT []
synonym: "WAGR Complex" EXACT []
synonym: "WAGR complices" EXACT []
synonym: "WAGR Contiguous Gene Syndrome" EXACT []
synonym: "WAGR Syndromes" EXACT []
synonym: "Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome" EXACT []
synonym: "Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome" EXACT []
synonym: "Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual disability syndrome" EXACT []
synonym: "Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome" EXACT []
synonym: "Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome" EXACT []
synonym: "Wilms tumor-aniridia-genitourinary anomalies-MR syndrome" EXACT []
synonym: "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome" EXACT []
xref: GARD:5528
xref: MESH:D017624
xref: MIM:194072
xref: MONDO:0008681
xref: NCI:C3718
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12271 ! aniridia
is_a: DOID:2154 ! nephroblastoma
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development
is_a: DOID:9003775 ! Chromosome 11p Deletion Syndrome
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:14522
name: partial arterial retinal occlusion
xref: ICD10CM:H34.21
xref: ICD9CM:362.33
xref: NCI:C35192
is_a: DOID:8483 ! retinal artery occlusion
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14523
name: Argyll Robertson pupil
def: "An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10863169 "DO"]
synonym: "Argyll Robertson phenomenon or pupil, nonsyphilitic" EXACT []
synonym: "Atypical Argyll-Robertson pupil" EXACT [SNOMEDCT_2005_07_31:21011008]
xref: ICD10CM:H57.01
xref: ICD9CM:379.45
is_a: DOID:11518 ! abnormal pupillary function

[Term]
id: DOID:14524
name: senile degeneration of brain
synonym: "senile brain degen." EXACT []
xref: ICD9CM:331.2
is_a: DOID:1443 ! cerebral degeneration
is_a: DOID:936 ! brain disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14525
name: Reye syndrome
def: "A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. (DO)" [https://en.wikipedia.org/wiki/Reye_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/2680560 "DO"]
synonym: "adult Reye's syndrome" EXACT []
synonym: "Adult Reye Syndrome" EXACT []
synonym: "Fatty Liver with Encephalopathy" EXACT []
synonym: "Reye's Like Syndrome" EXACT []
synonym: "Reye's syndrome" EXACT []
synonym: "Reye Johnson Syndrome" EXACT []
synonym: "Reye Like Syndrome" EXACT []
xref: EFO:0007467
xref: GARD:7570
xref: ICD10CM:G93.7
xref: ICD9CM:331.81
xref: MESH:D012202
xref: NCI:C34983
is_a: DOID:225 ! syndrome
is_a: DOID:9005627 ! Metabolic Brain Diseases
is_a: DOID:9452 ! steatotic liver disease

[Term]
id: DOID:14529
name: external pathological resorption
xref: ICD10CM:K03.3
xref: ICD9CM:521.42
is_a: DOID:13240 ! tooth resorption

[Term]
id: DOID:1453
name: atrophic glossitis
synonym: "atrophy of tongue papillae" EXACT []
synonym: "Hunter's glossitis" EXACT []
synonym: "smooth atrophic tongue" EXACT []
xref: ICD10CM:K14.4
xref: ICD9CM:529.4
is_a: DOID:1456 ! glossitis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:14534
name: malignant cardiac peripheral nerve sheath neoplasm
synonym: "MPNST of heart" EXACT []
xref: NCI:C5367
is_a: DOID:5940 ! malignant peripheral nerve sheath tumor
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:14535
name: malignant cardiac germ cell tumor
synonym: "malignant cardiac germ cell tumour" EXACT []
synonym: "malignant germ cell tumor of the Heart" EXACT [NCI2004_11_17:C5371]
synonym: "malignant germ cell tumour of the Heart" EXACT []
xref: NCI:C5371
xref: RDO:9004976
is_a: DOID:117 ! heart cancer
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:14544
name: rete testis adenocarcinoma
def: "A rete testis neoplasm that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of rete testis" RELATED []
synonym: "adenocarcinoma of the rete testis" EXACT [NCI2004_11_17:C8955]
xref: NCI:C8955
xref: RDO:9002486
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:5639 ! rete testis neoplasm
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:14545
name: seminal vesicle adenocarcinoma
def: "A male reproductive organ cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
xref: NCI:C39906
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:3856 ! male reproductive organ cancer
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:14546
name: sphenoidal sinus cancer
synonym: "malignant tumor of Sphenoidal sinus" EXACT [NCI2004_11_17:C3543]
synonym: "malignant tumor of sphenoid sinus" EXACT [SNOMEDCT_2005_07_31:363428005]
xref: ICD10CM:C31.3
xref: ICD9CM:160.5
xref: NCI:C3543
xref: RDO:9002352
is_a: DOID:0050619 ! paranasal sinus cancer
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:14547
name: sphenoid sinus squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the sphenoid sinus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25748513 "DO"]
synonym: "epidermoid carcinoma of the Sphenoidal sinus" EXACT []
xref: NCI:C6066
xref: RDO:9002353
is_a: DOID:14546 ! sphenoidal sinus cancer
is_a: DOID:1749 ! squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:14548
name: steroid-induced glaucoma - borderline
synonym: "borderline glaucoma steroid responder" EXACT []
synonym: "steroid responders borderline glaucoma" EXACT []
xref: ICD9CM:365.03
is_a: DOID:9283 ! borderline glaucoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:1455
name: geographic tongue
alt_id: MIM:137400
def: "An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. (DO)" [http://en.wikipedia.org/wiki/Geographic_tongue "DO"]
synonym: "benign migratory glossitis" EXACT []
synonym: "Glossitis Areata Exfoliativa" EXACT []
synonym: "Lingua Erythema Migran" EXACT []
synonym: "Lingua Erythema Migrans" EXACT []
synonym: "lingual erythema migrans" EXACT []
synonym: "pityriasis linguae" EXACT []
xref: EFO:0007283
xref: GARD:6493
xref: ICD10CM:K14.1
xref: ICD9CM:529.1
xref: MESH:D005929
xref: NCI:C84588
is_a: DOID:1453 ! atrophic glossitis
is_a: DOID:1456 ! glossitis

[Term]
id: DOID:14550
name: root resorption
alt_id: RDO:0006507
def: "Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)" [MESH:D012391]
synonym: "Root Resorptions" EXACT []
xref: MESH:D012391
is_a: DOID:13240 ! tooth resorption

[Term]
id: DOID:14555
name: Foster-Kennedy syndrome
xref: EFO:1001330
xref: ICD10CM:H47.14
xref: ICD9CM:377.04
is_a: DOID:146 ! papilledema
is_a: DOID:225 ! syndrome
is_a: DOID:6929 ! retinal edema
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14557
name: primary pulmonary hypertension
def: "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. (DO)" [http://en.wikipedia.org/wiki/Pulmonary_hypertension "DO", http://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension "DO"]
synonym: "familial primary pulmonary hypertension" EXACT []
synonym: "heritable pulmonary arterial hypertension" EXACT []
synonym: "IDIOPATHIC AND/OR FAMILIAL PULMONARY ARTERIAL HYPERTENSION" EXACT []
synonym: "Idiopathic Pulmonary Arterial Hypertension" EXACT []
synonym: "idiopathic pulmonary hypertension" EXACT []
synonym: "idiopathic pulmonary hypertensions" EXACT []
synonym: "primary pulmonary hypertension, dexfenfluramine-associated" RELATED []
synonym: "primary pulmonary hypertension, fenfluramine-associated" RELATED []
synonym: "primary pulmonary hypertensions" EXACT []
xref: ICD10CM:I27.0
xref: ICD9CM:416.0
xref: MESH:D065627
xref: MIM:PS178600
xref: NCI:C121945
xref: NCI:C97119
xref: ORDO:422
is_a: DOID:0080578 ! digenic disease
is_a: DOID:12326 ! chronic pulmonary heart disease
is_a: DOID:6432 ! pulmonary hypertension

[Term]
id: DOID:14559
name: anaerobic meningitis
xref: ICD9CM:320.81
xref: RDO:9002394
is_a: DOID:9470 ! bacterial meningitis
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:1456
name: glossitis
def: "Inflammation of the tongue." [MESH:D005928]
synonym: "Glossitides" EXACT []
xref: EFO:1000951
xref: ICD10CM:K14.0
xref: ICD9CM:529.0
xref: MESH:D005928
xref: NCI:C112199
is_a: DOID:10944 ! tongue disease

[Term]
id: DOID:14566
name: disease of cellular proliferation
def: "A disease that is characterized by abnormally rapid cell division. (DO)" [http://en.wikipedia.org/w/index.php?title=Cell_proliferation "DO"]
subset: RGD_JBrowse_slim
synonym: "ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO" RELATED []
synonym: "cancer of multiple types, susceptibility to" RELATED []
synonym: "cell process disease" EXACT []
synonym: "CODON 72 POLYMORPHISM, (rs1042522)" RELATED []
synonym: "malignancies" EXACT []
synonym: "malignancy" EXACT []
synonym: "neoplasia" EXACT []
synonym: "neoplasias" EXACT []
synonym: "neoplasm" EXACT []
synonym: "neoplasms" EXACT []
synonym: "neoplastic disease" EXACT []
synonym: "neoplastic growth" EXACT []
synonym: "tumor" EXACT []
synonym: "tumors" EXACT []
xref: EFO:0000616
xref: EFO:0000728
xref: MESH:D009369
xref: NCI:C134526
xref: NCI:C134942
xref: NCI:C23988
xref: NCI:C3262
xref: NCI:C3263
is_a: DOID:4 ! disease

[Term]
id: DOID:1458
name: postsurgical hypothyroidism
synonym: "postoperative hypothyroidism" EXACT []
synonym: "post-surgical hypothyroidism" EXACT []
xref: ICD10CM:E89.0
xref: ICD9CM:244.0
is_a: DOID:1459 ! hypothyroidism
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:1459
name: hypothyroidism
alt_id: OMIA:000536
def: "A thyroid gland disease which involves an underproduction of thyroid hormone. (DO)" [https://medlineplus.gov/hypothyroidism.html "DO"]
synonym: "hypothyroidisms" EXACT []
synonym: "thyroid deficiency" EXACT []
synonym: "thyroid insufficiency" EXACT []
synonym: "Thyroid-Stimulating Hormone Deficiencies" EXACT []
synonym: "Thyroid Stimulating Hormone Deficiency" EXACT []
synonym: "TSH Deficiencies" EXACT []
synonym: "TSH deficiency" EXACT []
xref: EFO:0004705
xref: ICD10CM:E03.9
xref: ICD9CM:244.9
xref: MESH:D007037
xref: NCI:C26800
is_a: DOID:225 ! syndrome
is_a: DOID:50 ! thyroid gland disease

[Term]
id: DOID:146
name: papilledema
def: "Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" [MESH:D010211]
synonym: "choked disk" EXACT []
synonym: "decreased intracranial pressure associated papilledema" EXACT []
synonym: "edema of the optic disc" EXACT []
synonym: "increased intracranial pressure associated papilledema" EXACT []
synonym: "optic disc swelling" EXACT []
synonym: "optic disk edema" EXACT []
synonym: "optic nerve papillitis" EXACT []
synonym: "optic papilla edema" EXACT []
synonym: "papilledema associated with decreased intraocular pressure" EXACT []
synonym: "papilledema associated with increased intracranial pressure" EXACT []
synonym: "papilloedema" EXACT []
xref: GARD:7318
xref: MESH:D010211
xref: NCI:C3307
is_a: DOID:1891 ! optic nerve disease

[Term]
id: DOID:1460
name: atheroembolism of kidney
is_a: DOID:1461 ! cholesterol embolism
is_a: DOID:557 ! kidney disease
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:1461
name: cholesterol embolism
def: "A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. (DO)" [http://en.wikipedia.org/wiki/Cholesterol_embolism "DO"]
synonym: "Atheroembolism" EXACT []
synonym: "atheroembolisms" EXACT []
synonym: "cholesterol crystal embolism" EXACT []
synonym: "cholesterol embolisms" EXACT []
synonym: "purple toe syndrome" EXACT []
synonym: "trash foot" EXACT []
synonym: "warfarin blue toe syndrome" EXACT []
xref: EFO:0005801
xref: ICD10CM:I75
xref: ICD9CM:445
xref: MESH:D017700
is_a: DOID:178 ! vascular disease
is_a: DOID:9006291 ! Fat Embolism

[Term]
id: DOID:14654
name: prostatitis
def: "Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment." [MESH:D011472]
synonym: "acute bacterial prostatitides" EXACT []
synonym: "Acute Bacterial Prostatitis" EXACT []
synonym: "Asymptomatic Inflammatory Prostatitides" EXACT []
synonym: "Asymptomatic Inflammatory Prostatitis" EXACT []
synonym: "Chronic Bacterial Prostatitides" EXACT []
synonym: "Chronic Bacterial Prostatitis" EXACT []
synonym: "Chronic Prostatitis with Chronic Pelvic Pain Syndrome" EXACT []
synonym: "prostatitides" EXACT []
xref: EFO:0003830
xref: ICD10CM:N41
xref: ICD10CM:N41.9
xref: ICD9CM:601.9
xref: MESH:D011472
xref: NCI:C26866
is_a: DOID:47 ! prostate disease

[Term]
id: DOID:14669
name: acrodysostosis
alt_id: MIM:170700
def: "A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. (DO)" [http://children.webmd.com/acrodysostosis "DO", http://en.wikipedia.org/wiki/Acrodysostosis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001248.htm "DO"]
synonym: "acrodysplasia" EXACT []
synonym: "Arkless-Graham syndrome" EXACT []
synonym: "Maroteaux-Malamut syndrome" EXACT []
synonym: "nasal hypoplasia-peripheral dysostosis-mental retardation syndrome" EXACT []
synonym: "peripheral dysostosis" EXACT []
synonym: "peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome" EXACT []
xref: GARD:2015
xref: GARD:5724
xref: MESH:C538179
xref: MIM:PS101800
xref: ORDO:950
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1934 ! dysostosis
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:1467
name: serous labyrinthitis
def: "A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. (DO)" [http://books.google.com/books?id=QRgynJASsi8C&pg=PA221&lpg#v=onepage&q=&f=false "DO"]
synonym: "acute serous labyrinthitis" EXACT []
xref: ICD9CM:386.31
xref: MONDO:0002006
is_a: DOID:1468 ! labyrinthitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:14670
name: hypertelorism, microtia, facial clefting syndrome
alt_id: MIM:239800
def: "A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. (DO)" [http://rarediseases.info.nih.gov/gard/897/bixler-christian-gorlin-syndrome/resources/1 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11152141 "DO"]
synonym: "Bixler Christian Gorlin syndrome" EXACT []
synonym: "Bixler syndrome" EXACT []
synonym: "HMC syndrome" EXACT []
synonym: "hypertelorism-microtia-clefting syndrome" EXACT []
xref: MESH:C537632
xref: ORDO:2213
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10907 ! microcephaly
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9001502 ! Congenital Microtia
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:14671
name: multiple intestinal atresia
def: "An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23423984 "DO"]
synonym: "familial intestinal polyatresia syndrome" EXACT []
synonym: "FIPA" EXACT []
synonym: "gastrointestinal defects and immunodeficiency syndrome 1" EXACT []
synonym: "GIDID1" EXACT []
synonym: "MINAT" EXACT []
synonym: "multiple gastrointestinal atresias" EXACT []
synonym: "multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency" EXACT []
xref: GARD:3013
xref: MEDDRA:10028210
xref: MESH:C562441
xref: MIM:243150
xref: MONDO:0800030
xref: ORDO:2300
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10486 ! intestinal atresia
is_a: DOID:9009203 ! Gastrointestinal defects and immunodeficiency syndrome

[Term]
id: DOID:14679
name: VACTERL association
alt_id: MIM:192350
def: "A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. (DO)" [http://en.wikipedia.org/wiki/VACTERL_association "DO", http://ghr.nlm.nih.gov/condition/vacterl-association "DO", http://www.cincinnatichildrens.org/health/v/vacterl/ "DO"]
synonym: "VACTEL association" EXACT []
synonym: "VACTERL/VATER association" EXACT []
synonym: "VACTERL Syndrome" EXACT []
synonym: "VATER Association" EXACT []
synonym: "VATER syndrome" RELATED []
synonym: "Vertebral Anal Tracheoesophageal Esophageal Radial anomalies" EXACT []
synonym: "vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial dysplasia" EXACT []
xref: GARD:5443
xref: MESH:C536495
xref: MESH:C536534
xref: NCI:C99105
is_a: DOID:10488 ! imperforate anus
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008498 ! Tracheoesophageal Fistula

[Term]
id: DOID:1468
name: labyrinthitis
def: "An otitis interna which involves inflammation of the labyrinths. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=LABYRINTHITIS "DO"]
synonym: "labyrinthitides" EXACT []
xref: EFO:0009604
xref: ICD10CM:H83.0
xref: ICD9CM:386.3
xref: MESH:D007762
is_a: DOID:3930 ! otitis interna
is_a: DOID:9007481 ! Otitis

[Term]
id: DOID:14681
name: Silver-Russell syndrome
def: "A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. (DO)" [https://ghr.nlm.nih.gov/condition/russell-silver-syndrome "DO", https://rarediseases.org/rare-diseases/russell-silver-syndrome/ "DO"]
synonym: "RSS" EXACT []
synonym: "Silver Russell dwarfism" EXACT []
synonym: "SRS" EXACT []
xref: GARD:4870
xref: MESH:D056730
xref: MIM:PS180860
xref: NCI:C85068
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:14683
name: Binder syndrome
alt_id: MIM:155050
synonym: "maxillonasal dysplasia, Binder type" EXACT []
xref: GARD:6992
xref: MESH:C536036
is_a: DOID:2163 ! nasal cavity disease
is_a: DOID:9004563 ! Maxillofacial Abnormalities

[Term]
id: DOID:14686
name: Axenfeld-Rieger syndrome
def: "An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. (DO)" [http://en.wikipedia.org/wiki/Axenfeld_syndrome "DO", http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome "DO"]
synonym: "Axenfeld anomaly" EXACT []
synonym: "Axenfeld-Rieger anomaly" EXACT []
synonym: "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss" EXACT []
synonym: "Axenfeld syndrome" EXACT []
synonym: "Hagedoom syndrome" RELATED []
synonym: "iridogoniodysgenesis with somatic anomalies" EXACT []
synonym: "RGS - Rieger syndrome" EXACT [SNOMEDCT_2005_07_31:204154009]
synonym: "Rieger's anomaly" EXACT []
synonym: "Rieger anomaly" EXACT []
synonym: "Rieger syndrome" EXACT []
xref: GARD:5701
xref: ICD10CM:Q13.81
xref: MESH:C535679
xref: MIM:PS180500
xref: NCI:C131001
xref: ORDO:782
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:14687
name: diastrophic dysplasia
alt_id: MIM:222600
alt_id: RDO:0001640
def: "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. (DO)" [http://en.wikipedia.org/wiki/Diastrophic_dysplasia "DO", http://ghr.nlm.nih.gov/condition/diastrophic-dysplasia "DO", http://www.ncbi.nlm.nih.gov/books/NBK22219/ "DO"]
synonym: "DD  DIASTROPHIC DYSPLASIA, BONE-PLATYSPONDYLIC VARIANT" NARROW []
synonym: "Diastrophic dwarfism" EXACT []
synonym: "DTD" EXACT []
synonym: "SULFATE TRANSPORTER-RELATED OSTEOCHONDRODYSPLASIA" EXACT []
xref: GARD:6275
xref: ICD10CM:Q77.5
xref: MESH:C536170
xref: NCI:C156311
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:14692
name: Smith-Lemli-Opitz syndrome
alt_id: MIM:270400
def: "An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY." [MESH:D019082]
synonym: "7-Dehydrocholesterol Reductase Deficiencies" EXACT []
synonym: "7-Dehydrocholesterol Reductase Deficiency" EXACT []
synonym: "Hyperotosis Corticalis Generalisata Familiaris" EXACT []
synonym: "Lethal Acrodysgenital Syndrome" EXACT []
synonym: "Lethal Acrodysgenital Syndromes" EXACT []
synonym: "Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung" EXACT []
synonym: "RSH SLO Syndrome" EXACT []
synonym: "RSH-SLO Syndromes" EXACT []
synonym: "RSH Syndrome" EXACT []
synonym: "RSH Syndromes" EXACT []
synonym: "Rutledge Friedman Harrod Syndrome" EXACT []
synonym: "Rutledge Lethal Multiple Congenital Anomaly Syndrome" EXACT []
synonym: "SLOS" EXACT []
synonym: "SLO Syndrome" EXACT []
synonym: "SLO Syndromes" EXACT []
synonym: "Smith Lemli Opitz syndrome, type 1" EXACT []
synonym: "Smith Lemli Opitz Syndrome, Type 2" EXACT []
synonym: "Smith Lemli Opitz Syndrome, Type I" EXACT []
synonym: "Smith Lemli Opitz Syndrome, Type II" EXACT []
synonym: "Smith-Opitz-Inborn syndrome" EXACT [CSP2005:5002-0023]
xref: GARD:5683
xref: ICD10CM:E78.72
xref: MESH:D019082
xref: NCI:C85071
xref: RDO:0007255
is_a: DOID:1701 ! steroid inherited metabolic disorder
is_a: DOID:225 ! syndrome
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9003370 ! Dyslipidemias
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:14693
name: Clouston syndrome
def: "An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8845850/ "DO"]
synonym: "autosomal dominant hidrotic ectodermal dysplasia" EXACT []
synonym: "Clouston's hidrotic ectodermal dysplasia" EXACT []
synonym: "Clouston's syndrome" EXACT []
synonym: "Clouston Hidrotic Ectodermal Dysplasia" EXACT []
synonym: "Cloustons syndrome" EXACT []
synonym: "ECTD2" EXACT []
synonym: "ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE" EXACT []
synonym: "HED2" EXACT []
synonym: "hidrotic ectodermal dysplasia" EXACT []
synonym: "hidrotic ectodermal dysplasia 2" EXACT []
synonym: "hidrotic ectodermal dysplasia syndrome" EXACT []
xref: GARD:2056
xref: MIM:129500
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:14694
name: Johanson-Blizzard syndrome
alt_id: MIM:243800
def: "A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. (DO)" [http://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome "DO"]
synonym: "ectodermal dysplasia-exocrine pancreatic insufficiency" EXACT []
synonym: "JBS" EXACT []
synonym: "malabsorption-ectodermal dysplasia-nasal alar hypoplasia" EXACT []
synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness" EXACT []
synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, congenital deafness" EXACT []
xref: GARD:80
xref: MESH:C535880
xref: ORDO:2315
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10488 ! imperforate anus
is_a: DOID:1059 ! intellectual disability
is_a: DOID:13316 ! exocrine pancreatic insufficiency
is_a: DOID:1459 ! hypothyroidism
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:14695
name: galactokinase deficiency
def: "A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. (DO)" [http://en.wikipedia.org/wiki/Galactokinase_deficiency "DO"]
synonym: "deficiency of galactokinase" EXACT []
synonym: "GALAC2" EXACT []
synonym: "galactokinase deficiencies" EXACT []
synonym: "galactokinase deficiency disease" EXACT []
synonym: "galactokinase deficiency diseases" EXACT []
synonym: "galactokinase deficiency with cataracts" EXACT []
synonym: "galactosemia 2" EXACT []
synonym: "galactosemia II" EXACT []
synonym: "GALK1-RELATED CONDITION" EXACT []
synonym: "GALK deficiencies" EXACT []
synonym: "GALK deficiency" EXACT []
xref: GARD:2422
xref: ICD10CM:E74.29
xref: MIM:230200
xref: NCI:C114767
xref: ORDO:79237
is_a: DOID:9870 ! galactosemia
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:14699
name: thrombocytopenia-absent radius syndrome
alt_id: MIM:274000
def: "A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other. (DO)" [https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK23758/ "DO"]
synonym: "absent radii and thrombocytopenia" EXACT []
synonym: "chromosome 1q21.1 deletion syndrome, 200-Kb" EXACT []
synonym: "radial aplasia-amegakaryocytic thrombocytopenia" EXACT []
synonym: "radial aplasia-thrombocytopenia syndrome" EXACT []
synonym: "TAR" EXACT []
synonym: "TAR syndrome" EXACT []
synonym: "thrombocytopenia absent radii" EXACT []
synonym: "thrombocytopenia with absent radii (TAR) syndrome" EXACT []
xref: MESH:C536940
xref: NCI:C99038
xref: ORDO:3320
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:9004402 ! Congenital Upper Extremity Deformities

[Term]
id: DOID:1470
name: major depressive disorder
alt_id: MIM:608516
def: "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality. (DO)" [http://en.wikipedia.org/wiki/Major_depressive_disorder "DO", https://pubmed.ncbi.nlm.nih.gov/30333763 "DO"]
synonym: "Involutional Depression" EXACT []
synonym: "Involutional Melancholia" EXACT []
synonym: "Involutional Paraphrenia" EXACT []
synonym: "involutional paraphrenias" EXACT []
synonym: "involutional psychoses" EXACT []
synonym: "involutional psychosis" EXACT []
synonym: "major depression" EXACT []
synonym: "MAJOR DEPRESSIVE DISORDER, INCREASED RECURRENCE OF DEPRESSIVE EPISODES IN, SUSCEPTIBILITY TO" RELATED []
synonym: "major depressive disorders" EXACT []
synonym: "major depressive episode" NARROW []
synonym: "MDD" EXACT []
synonym: "recurrent major depression" EXACT []
synonym: "SAD" NARROW []
synonym: "single major depressive episode" NARROW []
synonym: "TRYPTOPHAN 5-MONOOXYGENASE DEFICIENCY" NARROW []
synonym: "UNIPOLAR DEPRESSION SEASONAL AFFECTIVE DISORDER" NARROW []
xref: EFO:0003761
xref: EFO:0006860
xref: EFO:0007634
xref: ICD10CM:F32
xref: ICD10CM:F33.9
xref: ICD9CM:296.2
xref: ICD9CM:296.3
xref: MESH:D003865
xref: MONDO:0002009
xref: NCI:C34796
is_a: DOID:1596 ! depressive disorder

[Term]
id: DOID:14701
name: propionic acidemia
alt_id: MIM:606054
def: "An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy. (DO)" [http://en.wikipedia.org/wiki/Propionic_acidemia "DO"]
synonym: "Hyperglycinemia With Ketoacidosis And Leukopenia" EXACT []
synonym: "Ketotic Glycinemia" EXACT []
synonym: "ketotic glycinemias" EXACT []
synonym: "Ketotic Hyperglycinemia" EXACT []
synonym: "ketotic hyperglycinemias" EXACT []
synonym: "ketotic II glycinemia" EXACT []
synonym: "PCC deficiencies" EXACT []
synonym: "PCC Deficiency" EXACT []
synonym: "propionic acidemias" EXACT []
synonym: "propionic aciduria" EXACT []
synonym: "propionic acidurias" EXACT []
synonym: "propionyl-CoA carboxylase deficiencies" EXACT []
synonym: "propionyl CoA carboxylase deficiency" EXACT []
xref: GARD:467
xref: ICD10CM:E71.121
xref: MESH:D056693
xref: NCI:C85030
is_a: DOID:0060159 ! organic acidemia
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:14702
name: branchiootorenal syndrome
def: "A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/263442 "DO"]
synonym: "BOR syndrome" EXACT []
synonym: "Branchiootorenal Dysplasia" EXACT []
synonym: "branchio-otorenal dysplasia" EXACT []
synonym: "BRANCHIOOTORENAL SPECTRUM DISORDERS" EXACT []
synonym: "Branchio-Oto-Renal Syndrome" EXACT []
synonym: "Branchio-Otorenal Syndrome" EXACT []
synonym: "branchiootorenal syndrome with cataract" NARROW []
synonym: "Lee Root Fenske syndrome" EXACT []
synonym: "Melnick Fraser syndrome" EXACT []
xref: EFO:1001251
xref: GARD:10147
xref: MESH:D019280
xref: MIM:PS166780
xref: MONDO:0007029
xref: NCI:C98983
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9002644 ! Premature Aging
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:14705
name: Pfeiffer syndrome
alt_id: MIM:101600
def: "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. (DO)" [http://en.wikipedia.org/wiki/Pfeiffer_syndrome "DO", http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome "DO", http://www.healthline.com/galecontent/pfeiffer-syndrome "DO", https://www.faces-cranio.org/pfeiffer "DO"]
synonym: "acrocephalosyndactylia type V" EXACT []
synonym: "acrocephalosyndactyly, type 5" EXACT []
synonym: "acrocephalosyndactyly, type V" EXACT []
synonym: "ACS5" EXACT []
synonym: "ACS V" EXACT []
synonym: "NOACK SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA" NARROW []
synonym: "PFEIFFER SYNDROME TYPE 1" NARROW []
synonym: "Pfeiffer type acrocephalosyndactyly" EXACT []
synonym: "type V acrocephalosyndactylies" EXACT []
xref: GARD:7380
xref: MESH:C538582
xref: NCI:C99100
xref: ORDO:710
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12960 ! acrocephalosyndactylia

[Term]
id: DOID:14711
name: FG syndrome
def: "A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. (DO)" [http://en.wikipedia.org/wiki/FG_syndrome "DO", http://ghr.nlm.nih.gov/condition/fg-syndrome "DO", http://rarediseases.info.nih.gov/gard/2317/fg-syndrome/resources/1 "DO"]
synonym: "FGS" EXACT []
synonym: "Keller syndrome" NARROW []
synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" NARROW []
synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum" NARROW []
synonym: "OKS" NARROW []
synonym: "Opitz-Kaveggia syndrome" NARROW []
xref: EFO:0009297
xref: GARD:2317
xref: MESH:C537923
xref: MIM:PS305400
xref: ORDO:93932
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:10488 ! imperforate anus
is_a: DOID:225 ! syndrome
is_a: DOID:9001581 ! Constipation
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:14717
name: centronuclear myopathy
def: "A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. (DO)" [http://en.wikipedia.org/wiki/Centronuclear_myopathy "DO", http://ghr.nlm.nih.gov/condition/centronuclear-myopathy "DO"]
synonym: "centronuclear myopathies" EXACT []
synonym: "myotubular myopathy" EXACT []
xref: GARD:101
xref: ICD10CM:G71.22
xref: MIM:PS160150
xref: ORDO:595
xref: ORDO:596
xref: ORDO:69186
xref: ORDO:69189
is_a: DOID:422 ! congenital structural myopathy

[Term]
id: DOID:14720
name: Ehlers-Danlos syndrome classic type 1
alt_id: MIM:130000
def: "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"]
synonym: "COL5A1-RELATED CONDITION" BROAD []
synonym: "EDS1" EXACT []
synonym: "EDSCL1" EXACT []
synonym: "EDS I" EXACT []
synonym: "Ehlers-Danlos syndrome, classic severe form" EXACT []
synonym: "Ehlers-Danlos syndrome, classic type" EXACT []
synonym: "Ehlers-Danlos syndrome, Gravis type" EXACT []
synonym: "Ehlers-Danlos syndrome, severe classic type" EXACT []
synonym: "Ehlers-Danlos syndrome type 1" EXACT []
synonym: "Ehlers-Danlos syndrome type I" EXACT []
xref: MESH:C536194
xref: NCI:C125696
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome

[Term]
id: DOID:14723
name: beta-ketothiolase deficiency
alt_id: MIM:203750
def: "An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. (DO)" [https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics "DO"]
synonym: "2-alpha-methyl-3-hydroxybutyricacidemia" EXACT []
synonym: "2-methyl-3-hydroxybutyric acidemia" EXACT []
synonym: "2-methyl-3-hydroxybutyricacidemia" EXACT []
synonym: "3-alpha-ketothiolase deficiency" EXACT []
synonym: "3-Alpha-Ktd Deficiency" EXACT []
synonym: "3-Alpha-Oxothiolase Deficiency" EXACT []
synonym: "3-ketothiolase deficiency" EXACT []
synonym: "3-KTD DEFICIENCY" EXACT []
synonym: "3-Methylhydroxybutyric Acidemia" EXACT []
synonym: "3-oxothiolase deficiency" EXACT []
synonym: "Alpha-Methylacetoacetic Aciduria" EXACT []
synonym: "Alpha-methylacetoaceticaciduria" EXACT []
synonym: "B-Ketothiolase Deficiency" EXACT []
synonym: "DEFICIENCY OF ACETYL-COA ACETYLTRANSFERASE" EXACT []
synonym: "MAT DEFICIENCY" EXACT []
synonym: "mitochondrial 2-methylacetoacetyl-Coa thiolase deficiency - potassium stimulated" EXACT []
synonym: "mitochondrial acetoacetyl-CoA thiolase deficiency" EXACT []
synonym: "peroxisomal thiolase deficiency" EXACT []
synonym: "T2 deficiency" EXACT []
xref: GARD:872
xref: MESH:C535434
xref: NCI:C98841
xref: ORDO:134
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:14725
name: autosomal dominant microcephaly
alt_id: MIM:156580
def: "A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3236353 "DO"]
synonym: "microcephaly with autosomal dominant inheritance" EXACT []
xref: MESH:C537323
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10907 ! microcephaly

[Term]
id: DOID:14731
name: Weaver syndrome
def: "A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36. (DO)" [https://ghr.nlm.nih.gov/condition/weaver-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/30793471 "DO"]
synonym: "camptodactyly-overgrowth-unusual facies syndrome" EXACT []
synonym: "Weaver-like syndrome" EXACT []
synonym: "Weaver-Smith syndrome" EXACT []
synonym: "Weaver-Williams syndrome" EXACT []
synonym: "WSS" EXACT []
synonym: "WVS" EXACT []
xref: GARD:5545
xref: GARD:7878
xref: MESH:C536687
xref: MESH:C562443
xref: MIM:277590
xref: MONDO:0010193
xref: NCI:C125599
xref: ORDO:3447
is_a: DOID:0050328 ! congenital hypothyroidism
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:14735
name: hereditary angioedema
def: "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes. (DO)" [https://medlineplus.gov/genetics/condition/hereditary-angioedema/ "DO"]
synonym: "HAE" EXACT []
synonym: "HANE" EXACT []
synonym: "hereditary angioedemas" EXACT []
synonym: "HEREDITARY ANGIOEDEMA WITH NORMAL C1INH" NARROW []
synonym: "hereditary angioneurotic edema" EXACT []
synonym: "hereditary angioneurotic edemas" EXACT []
xref: EFO:0004133
xref: GARD:5979
xref: MESH:D054179
xref: MIM:PS106100
xref: MONDO:0019623
xref: NCI:C84758
xref: ORDO:91378
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1558 ! angioedema

[Term]
id: DOID:14737
name: craniofrontonasal syndrome
alt_id: MIM:304110
def: "A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton. (DO)" [https://www.omim.org/entry/304110 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1520 "DO"]
synonym: "CFND" EXACT []
synonym: "CFNS" EXACT []
synonym: "craniofrontonasal dysostosis" EXACT []
synonym: "craniofrontonasal dysplasia" EXACT []
xref: GARD:1578
xref: MESH:C536456
xref: ORDO:1520
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:1474
name: aggressive periodontitis
alt_id: MIM:170650
def: "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. (DO)" [http://en.wikipedia.org/wiki/Aggressive_periodontitis "DO"]
synonym: "aggressive periodontitis, 1" EXACT []
synonym: "circumpubertal periodontitis" EXACT []
synonym: "early-onset periodontitis" EXACT []
synonym: "JP" EXACT []
synonym: "JPD" EXACT []
synonym: "Juvenile Periodontitis" EXACT []
synonym: "periodontoses, formerly" RELATED []
synonym: "periodontosis, formerly" RELATED []
synonym: "PPP" EXACT []
synonym: "prepubertal periodontitis" EXACT []
xref: EFO:0006342
xref: ICD10CM:K05.2
xref: MESH:D010520
is_a: DOID:824 ! periodontitis

[Term]
id: DOID:14743
name: trichorhinophalangeal syndrome type I
alt_id: MIM:190350
def: "A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). (DO)" [http://rarediseases.info.nih.gov/gard/7802/trichorhinophalangeal-syndrome-type-3/resources/1 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/732/viewAbstract "DO"]
synonym: "Giedion syndrome" EXACT []
synonym: "Sugio-Kajii syndrome" EXACT []
synonym: "Trichorhinophalangeal (TRP) syndrome 1" EXACT []
synonym: "Trichorhinophalangeal dysplasia 1" EXACT []
synonym: "trichorhinophalangeal dysplasia type I" EXACT []
synonym: "trichorhinophalangeal syndrome type 1" EXACT []
synonym: "TRPS1" EXACT []
synonym: "TRPS I" EXACT []
xref: MESH:C536820
xref: NCI:C75109
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:421 ! hair disease
is_a: DOID:9005517 ! Trichorhinophalangeal Syndrome

[Term]
id: DOID:14744
name: Partington syndrome
alt_id: MIM:309510
def: "A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. (DO)" [http://ghr.nlm.nih.gov/condition/partington-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23622180 "DO"]
synonym: "mental retardation-dystonic movements-ataxia-seizures syndrome" EXACT []
synonym: "MRX36" EXACT []
synonym: "MRXS1" EXACT []
synonym: "Partington X-linked mental retardation syndrome" EXACT []
synonym: "PRTS" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder 1" EXACT []
synonym: "syndromic X-linked mental retardation 1" EXACT []
synonym: "X-linked mental retardation 36" EXACT []
synonym: "X-linked mental retardation, with dystonic movements, ataxia, and seizures" EXACT []
synonym: "X-linked Russell-Silver syndrome" EXACT []
synonym: "X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME" EXACT []
xref: GARD:4235
xref: MESH:C536300
xref: ORDO:94083
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:14748
name: Sotos syndrome
def: "A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. (DO)" [http://en.wikipedia.org/wiki/Cerebral_gigantism "DO", https://research.nhgri.nih.gov/atlas/condition/sotos-syndrome "DO"]
synonym: "cerebral gigantism" EXACT []
synonym: "cerebral gigantisms" EXACT []
synonym: "chromosome 5q35 deletion syndrome" EXACT []
synonym: "Soto's syndrome" EXACT []
synonym: "Sotos' syndrome" EXACT []
synonym: "Sotos sequence" EXACT []
synonym: "Soto syndrome" EXACT []
xref: EFO:0004147
xref: GARD:10091
xref: MESH:D058495
xref: MIM:PS117550
xref: MONDO:0019349
xref: NCI:C75019
xref: ORDO:821
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:14749
name: methylmalonic acidemia
def: "An organic acidemia that involves an accumulation of methylmalonic acid in the blood. (DO)" [http://ghr.nlm.nih.gov/condition/methylmalonic-acidemia "DO"]
synonym: "isolated methylmalonic acidemia" EXACT []
synonym: "methylmalonic aciduria" EXACT []
synonym: "methylmalonicaciduria due to methylmalonic CoA mutase deficiency" EXACT []
xref: GARD:7033
xref: MESH:C537358
xref: NCI:C98986
is_a: DOID:0060159 ! organic acidemia
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:1475
name: lymphangioma
def: "A benign vascular tumor that is composed of dilated lymphatic channels. (DO)" [https://en.wikipedia.org/wiki/Lymphangioma "DO"]
synonym: "benign lymphangioma" EXACT []
synonym: "Cavernous Lymphangioma" EXACT []
synonym: "cavernous lymphangiomas" EXACT []
synonym: "congenital lymphangioma" EXACT []
synonym: "Lymphangioendothelioma" EXACT []
synonym: "Lymphangioendotheliomas" EXACT []
synonym: "Lymphangiomas" EXACT []
synonym: "Lymphatic Endothelioma" EXACT []
synonym: "lymphatic endotheliomas" EXACT []
xref: EFO:1001026
xref: GARD:9789
xref: ICD10CM:D18.1
xref: ICD9CM:228.1
xref: ICDO:9170/0
xref: MESH:D008202
xref: NCI:C8965
is_a: DOID:60006 ! benign vascular tumor
is_a: DOID:9003008 ! Lymphatic Vessel Tumors

[Term]
id: DOID:14753
name: isovaleric acidemia
alt_id: MIM:243500
def: "An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. (DO)" [http://en.wikipedia.org/wiki/Isovaleric_acidemia "DO"]
synonym: "isovaleric acid CoA dehydrogenase deficiency" EXACT []
synonym: "isovaleric acidemia, type I" EXACT []
synonym: "Isovaleric Acidemia, Type II" EXACT []
synonym: "Isovaleric Acidemia, Type III" EXACT []
synonym: "isovaleric aciduria" EXACT []
synonym: "Isovaleryl CoA carboxylase deficiency" EXACT []
synonym: "isovaleryl-CoA dehydrogenase deficiency" EXACT []
synonym: "IVA" EXACT []
synonym: "IVD deficiency" EXACT []
xref: GARD:465
xref: ICD10CM:E71.110
xref: MESH:C538167
xref: NCI:C98964
is_a: DOID:0060159 ! organic acidemia
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:14755
name: argininosuccinic aciduria
alt_id: MIM:207900
def: "An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. (DO)" [http://en.wikipedia.org/wiki/Argininosuccinic_aciduria "DO"]
synonym: "arginino succinase deficiencies" EXACT []
synonym: "Arginino Succinase Deficiency" EXACT []
synonym: "Argininosuccinase Deficiency" EXACT []
synonym: "Argininosuccinate Acidemia" EXACT []
synonym: "Argininosuccinate Acidemias" EXACT []
synonym: "Argininosuccinate Lyase Deficiencies" EXACT []
synonym: "Argininosuccinate Lyase Deficiency" EXACT []
synonym: "Argininosuccinic Acidemia" EXACT []
synonym: "Argininosuccinic Acid Lyase Deficiency" EXACT []
synonym: "Argininosuccinicaciduria" EXACT []
synonym: "Argininosuccinic Acidurias" EXACT []
synonym: "Argininosuccinicacidurias" EXACT []
synonym: "Argininosuccinyl-Coa Lyase Deficiency" EXACT []
synonym: "Arginosuccinase Deficiency" EXACT []
synonym: "ASA Deficiencies" EXACT []
synonym: "ASA Deficiency" EXACT []
synonym: "Asauria" EXACT []
synonym: "ASL Deficiencies" EXACT []
synonym: "ASL Deficiency" EXACT []
synonym: "deficiency of argininosuccinate lyase" EXACT []
synonym: "Inborn Error of Urea Synthesis, Arginino Succinic Type" EXACT []
synonym: "urea cycle disorder, arginino succinase type" EXACT []
xref: GARD:5843
xref: MESH:D056807
xref: NCI:C84569
is_a: DOID:9252 ! amino acid metabolic disorder
is_a: DOID:9267 ! urea cycle disorder

[Term]
id: DOID:14756
name: vascular type Ehlers-Danlos syndrome
def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21637106/ "DO"]
synonym: "autosomal dominant type IV Ehlers-Danlos syndrome" EXACT []
synonym: "COL3A1-RELATED CONDITION" BROAD []
synonym: "EDSVASC" EXACT []
synonym: "Ehlers Danlos Syndrome, arterial type" EXACT []
synonym: "Ehlers Danlos syndrome, Ecchymotic type" EXACT []
synonym: "Ehlers Danlos syndrome, Sack Barabas type" EXACT []
xref: GARD:2082
xref: MIM:130050
xref: NCI:C125699
xref: ORDO:286
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9001287 ! Ehlers-Danlos Syndrome Type 4
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:14757
name: Ehlers-Danlos syndrome hypermobility type
alt_id: MIM:130020
def: "An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"]
synonym: "Benign hypermobility syndrome" EXACT []
synonym: "EDS3" EXACT []
synonym: "EDS III" EXACT []
synonym: "Ehlers-Danlos syndrome type 3" EXACT []
synonym: "Ehlers-Danlos syndrome type III" EXACT []
xref: GARD:2081
xref: ICD10CM:Q79.62
xref: MESH:C536196
xref: NCI:C125698
is_a: DOID:13359 ! Ehlers-Danlos syndrome

[Term]
id: DOID:14759
name: autosomal recessive type IV Ehlers-Danlos syndrome
def: "An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"]
synonym: "Ehlers-Danlos syndrome, recessive type 4" EXACT []
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9001287 ! Ehlers-Danlos Syndrome Type 4
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:14761
name: Greig cephalopolysyndactyly syndrome
alt_id: MIM:175700
def: "An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. (DO)" [http://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome "DO", http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome "DO", http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6550 "DO"]
synonym: "cephalopolysyndactyly syndrome" EXACT []
synonym: "GCPS" EXACT []
synonym: "Greig cephalopolysyndactyly (GCPS) syndrome" EXACT []
synonym: "GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE" NARROW []
synonym: "Greig syndrome" EXACT []
synonym: "polysyndactyly with peculiar skull shape" EXACT []
synonym: "polysyndactyly with peculiars skull shape" EXACT []
xref: GARD:6550
xref: MESH:C537300
xref: NCI:C35255
xref: ORDO:380
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12960 ! acrocephalosyndactylia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:14762
name: calcaneonavicular coalition
alt_id: MIM:186400
alt_id: RDO:0004092
def: "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. (DO)" [http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome "DO"]
synonym: "Multiple synostosis syndrome" EXACT [SNOMEDCT_2005_07_31:62628008]
synonym: "tarsal, carpal, and digital synostoses" EXACT []
xref: MESH:C538156
is_a: DOID:11971 ! synostosis

[Term]
id: DOID:14764
name: Larsen syndrome
alt_id: MIM:150250
def: "A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities. (DO)" [http://en.wikipedia.org/wiki/Larsen_syndrome "DO", https://ghr.nlm.nih.gov/condition/larsen-syndrome "DO"]
synonym: "dominant Larsen syndrome" EXACT []
synonym: "FLNB-related spectrum disorder" RELATED []
synonym: "FLNB-related spectrum disorders" RELATED []
synonym: "Larsen syndrome, autosomal dominant" EXACT []
synonym: "Larsen syndrome, dominant type" EXACT []
synonym: "LRS" EXACT []
xref: GARD:6860
xref: MESH:C537873
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:674 ! cleft palate
is_a: DOID:9003279 ! Joint Dislocations
is_a: DOID:9004353 ! Larsen Syndromes
is_a: DOID:9009007 ! Tooth Abnormalities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:14766
name: renal agenesis
def: "A renal disease that is characterized by the failure of one or both kidneys to develop. (DO)" [https://en.wikipedia.org/wiki/Renal_agenesis "DO"]
synonym: "bilateral renal agenesis" EXACT []
synonym: "hereditary renal agenesis" EXACT []
synonym: "Hereditary Renal Aplasia" EXACT []
synonym: "hereditary urogenital adysplasia" EXACT []
synonym: "HRA" EXACT []
synonym: "RENAL ADYSPLASIA" EXACT []
synonym: "renal aplasia" EXACT []
xref: GARD:9228
xref: MESH:C536482
xref: MESH:C563261
xref: MIM:PS191830
xref: NCI:C99041
xref: ORDO:93108
is_a: DOID:557 ! kidney disease
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:14768
name: Saethre-Chotzen syndrome
def: "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. (DO)" [http://children.webmd.com/saethre-chotzen-syndrome "DO", http://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome "DO", http://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome "DO", http://www.healthline.com/galecontent/saethre-chotzen-syndrome "DO", https://www.faces-cranio.org/saethre-chotzen "DO"]
synonym: "acrocephalosyndactylies, type 3" EXACT []
synonym: "acrocephalosyndactylies, type III" EXACT []
synonym: "acrocephalosyndactyly III" EXACT []
synonym: "acrocephalosyndactyly type III" EXACT []
synonym: "ACS3" EXACT []
synonym: "ACS III" EXACT []
synonym: "BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3" EXACT []
synonym: "BPES3" EXACT []
synonym: "Chotzen syndrome" EXACT []
synonym: "MIM:101400" EXACT []
synonym: "Saethre-Chotzen syndrome with eyelid anomalies" EXACT []
synonym: "SCS" EXACT []
xref: GARD:7598
xref: MESH:C566325
xref: NCI:C75034
xref: ORDO:794
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:12960 ! acrocephalosyndactylia

[Term]
id: DOID:14773
name: cartilage-hair hypoplasia
alt_id: MIM:250250
def: "An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. (DO)" [https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/11207361 "DO"]
synonym: "cartilage hair syndrome" EXACT []
synonym: "CHH" EXACT []
synonym: "McKusick metaphyseal chondrodysplasia syndrome" EXACT []
synonym: "metaphyseal chondrodysplasia, McKusick type" EXACT []
synonym: "metaphyseal chondrodysplasia, recessive type" EXACT []
xref: MESH:C535916
xref: NCI:C61245
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:14775
name: brittle cornea syndrome 1
alt_id: MIM:229200
def: "An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"]
synonym: "BCS1" EXACT []
synonym: "CORNEAL FRAGILITY KERATOGLOBUS, BLUE SCLERAE AND JOINT HYPERMOBILITY" EXACT []
synonym: "Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility" EXACT []
synonym: "Dysgenesis Mesodermalis Corneae et Sclerae" EXACT []
synonym: "EDS6B" EXACT []
synonym: "Ehlers-Danlos syndrome 6B" EXACT []
synonym: "Ehlers-Danlos Syndrome, Type VIB" EXACT []
synonym: "fragilitas oculi with joint hyperextensibility" EXACT []
synonym: "ZNF469-RELATED CONDITION" EXACT []
xref: GARD:1019
xref: MESH:C536192
xref: NCI:C125700
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9005468 ! Brittle Cornea Syndrome
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:14777
name: benign familial neonatal epilepsy
synonym: "benign familial neonatal convulsions" EXACT []
synonym: "Benign Familial Neonatal Infantile Seizures" EXACT []
synonym: "benign familial neonatal seizures" EXACT []
synonym: "familial neonatal seizures" EXACT []
xref: GARD:2159
is_a: DOID:0050702 ! neonatal period electroclinical syndrome
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:14778
name: blepharophimosis, ptosis, and epicanthus inversus syndrome
alt_id: MESH:C566222
alt_id: MIM:110100
def: "A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11175783 "DO"]
synonym: "blepharophimosis, ptosis, and epicanthus inversus" EXACT []
synonym: "blepharophimosis-ptosis-epicanthus inversus syndrome" EXACT []
synonym: "blepharophimosis syndrome" EXACT []
synonym: "BPES" EXACT []
synonym: "BPES with Duane retraction syndrome" NARROW []
xref: EFO:0004883
xref: MESH:C562419
xref: MONDO:0007201
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:12557 ! Duane retraction syndrome
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:14780
name: KBG syndrome
alt_id: MIM:148050
def: "A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. (DO)" [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome "DO", https://www.kbgfoundation.com/home.html "DO"]
synonym: "ANKRD11-RELATED CONDITION" EXACT []
synonym: "KBGS" EXACT []
synonym: "Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies" EXACT []
xref: GARD:82
xref: MESH:C537015
xref: ORDO:2332
is_a: DOID:0060564 ! spinal disease
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:14784
name: olivopontocerebellar atrophy
def: "A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. (DO)" [http://www.ninds.nih.gov/disorders/opca/opca.htm "DO"]
synonym: "Dejerine Thomas syndrome" EXACT []
synonym: "familial olivopontocerebellar atrophies" EXACT []
synonym: "Familial Olivopontocerebellar Atrophy" EXACT []
synonym: "Idiopathic Olivopontocerebellar Atrophies" EXACT []
synonym: "Idiopathic Olivopontocerebellar Atrophy" EXACT []
synonym: "Inherited Olivopontocerebellar Atrophies" EXACT []
synonym: "Inherited Olivopontocerebellar Atrophy" EXACT []
synonym: "Nonfamilial Olivopontocerebellar Atrophies" EXACT []
synonym: "Nonfamilial Olivopontocerebellar Atrophy" EXACT []
synonym: "olivopontocerebellar atrophies" EXACT []
synonym: "Olivo Ponto Cerebellar Atrophy" EXACT []
synonym: "Olivo Ponto Cerebellar Degeneration" EXACT []
synonym: "Olivopontocerebellar Degeneration" EXACT []
synonym: "Olivo-Ponto-Cerebellar Degenerations" EXACT []
synonym: "Olivopontocerebellar Degenerations" EXACT []
synonym: "Olivopontocerebellar Hypoplasia" EXACT []
synonym: "Pontoolivocerebellar Atrophies" EXACT []
synonym: "Pontoolivocerebellar Atrophy" EXACT []
synonym: "Presenile Ataxia" EXACT []
synonym: "presenile ataxias" EXACT []
synonym: "Thomas' syndrome" EXACT []
synonym: "Wadia-Swami syndrome" EXACT []
xref: MESH:D009849
xref: NCI:C84947
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:4752 ! multiple system atrophy
is_a: DOID:9277 ! primary cerebellar degeneration

[Term]
id: DOID:14789
name: spondyloepiphyseal dysplasia congenita
alt_id: MIM:183900
def: "A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1971141/ "DO"]
synonym: "SEDC" EXACT []
synonym: "SED congenita" EXACT []
synonym: "SED, congenital type" EXACT []
synonym: "Spondyloepiphyseal dysplasia, congenital type" EXACT []
synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT" EXACT []
xref: GARD:4987
xref: MESH:C535788
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia

[Term]
id: DOID:14791
name: Leber congenital amaurosis
def: "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. (DO)" [http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis "DO"]
synonym: "congenital amaurosis of retinal origin" EXACT []
synonym: "congenital retinal blindness" EXACT []
synonym: "dysgenesis neuroepithelialis retinae" EXACT []
synonym: "hereditary epithelial dysplasia of retina" EXACT []
synonym: "hereditary retinal aplasia" EXACT []
synonym: "Heredoretinopathia Congenitalis" EXACT []
synonym: "LCA" EXACT []
synonym: "Leber's amauroses" EXACT []
synonym: "Leber's amaurosis" EXACT []
synonym: "Leber's congenital amaurosis" EXACT []
synonym: "Leber's disease" EXACT []
synonym: "Leber abiotrophies" EXACT []
synonym: "Leber Abiotrophy" EXACT []
synonym: "Leber amaurosis" EXACT []
synonym: "Leber congenital amauroses" EXACT []
synonym: "Leber congenital tapetoretinal degeneration" EXACT []
synonym: "Lebers amaurosis" EXACT []
xref: GARD:634
xref: MESH:D057130
xref: MIM:PS204000
xref: NCI:C129075
xref: ORDO:65
is_a: DOID:0080015 ! physical disorder
is_a: DOID:5679 ! retinal disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:14793
name: hypohidrotic ectodermal dysplasia
def: "An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). (DO)" [http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia "DO", http://www.ncbi.nlm.nih.gov/books/NBK1112/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468 "DO"]
xref: GARD:76
xref: NCI:C84562
xref: ORDO:238468
is_a: DOID:11155 ! hypohidrosis
is_a: DOID:13714 ! anodontia
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:4535 ! hypotrichosis
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:14796
name: Dubowitz syndrome
alt_id: MIM:223370
def: "A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. (DO)" [http://en.wikipedia.org/wiki/Dubowitz_syndrome "DO"]
synonym: "Dubowitz's syndrome" EXACT []
synonym: "dwarfism-eczema-peculiar facies syndrome" EXACT []
xref: GARD:6290
xref: MESH:C535718
xref: NCI:C125591
xref: ORDO:235
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007356 ! Eczema

[Term]
id: DOID:14798
name: Blount's disease
alt_id: MIM:188700
alt_id: MIM:259200
def: "An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. (DO)" [http://en.wikipedia.org/wiki/Blount%27s_disease "DO", http://www.e-radiography.net/radpath/b/blountsdisease.htm "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001584.htm "DO", http://www.wheelessonline.com/ortho/blounts_disease "DO"]
synonym: "Blount disease" EXACT []
synonym: "Blount disease, adolescent" EXACT []
synonym: "osteochondrosis deformans tibiae" EXACT []
synonym: "osteochondrosis deformans tibiae, adolescent" EXACT []
synonym: "osteochondrosis deformans tibiae, familial infantile type" EXACT []
synonym: "tibia vara" EXACT []
synonym: "tibia vara, adolescent" EXACT []
xref: GARD:916
xref: MESH:C536237
is_a: DOID:0080006 ! bone development disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:8125 ! osteochondrosis

[Term]
id: DOID:1483
name: gingival disease
def: "A periodontal disease that is located_in the gums. (DO)" [https://www.nidcr.nih.gov/health-info/gum-disease/more-info "DO"]
synonym: "gingival diseases" EXACT []
synonym: "gingival disorder" EXACT []
synonym: "gingivoses" EXACT []
synonym: "gingivosis" EXACT []
synonym: "gum disease" EXACT []
xref: EFO:0009670
xref: MESH:D005882
xref: MONDO:0002021
xref: NCI:C173795
is_a: DOID:3388 ! periodontal disease

[Term]
id: DOID:1485
name: cystic fibrosis
alt_id: DOID:9006271
def: "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs. (DO)" [http://en.wikipedia.org/wiki/Cystic_fibrosis "DO", http://ghr.nlm.nih.gov/condition/cystic-fibrosis "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/cf/ "DO", https://www.genome.gov/Genetic-Disorders/Cystic-Fibrosis "DO"]
synonym: "CF" EXACT []
synonym: "CFM1" EXACT []
synonym: "cystic fibrosis, modifier of, 1" RELATED []
synonym: "cystic fibrosis of pancreas" EXACT []
synonym: "fibrocystic disease of pancreas" EXACT []
synonym: "lung disease associated with cystic fibrosis" NARROW []
synonym: "meconium ileus in cystic fibrosis, susceptibility to" RELATED []
synonym: "Mucoviscidosis" EXACT []
synonym: "Nonclassic cystic fibrosis" NARROW []
synonym: "pancreas fibrocystic disease" EXACT []
synonym: "pancreas fibrocystic diseases" EXACT []
synonym: "pancreatic cystic fibrosis" EXACT []
synonym: "pulmonary cystic fibrosis" EXACT []
synonym: "susceptibility to chronic infection by pseudomonas aeruginosa in cystic fibrosis" RELATED []
synonym: "sweat chloride elevation without cystic fibrosis" RELATED []
xref: EFO:0000390
xref: EFO:0009797
xref: GARD:6233
xref: ICD10CM:E84
xref: ICD9CM:277.0
xref: MESH:D003550
xref: MIM:219700
xref: MIM:603855
xref: MONDO:0009061
xref: NCI:C2975
xref: ORDO:586
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:26 ! pancreas disease
is_a: DOID:8437 ! intestinal obstruction
is_a: DOID:850 ! lung disease
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:1495
name: cystic echinococcosis
def: "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. (DO)" [http://www.who.int/mediacentre/factsheets/fs377/en/ "DO"]
synonym: "echinococcus granulosus" EXACT []
synonym: "echinococcus granulosus infection" EXACT []
synonym: "echinococcus granulosus infection of lung" EXACT []
synonym: "echinococcus granulosus infection of thyroid" EXACT []
synonym: "echinococcus granulosus infectious disease" EXACT []
synonym: "echinococcus granulosus infectious disease of liver" EXACT []
synonym: "echinococcus granulosus infectious disease of thyroid" EXACT []
synonym: "liver echinococcus granulosus" EXACT []
synonym: "lung echinococcus granulosus" EXACT []
synonym: "thyroid echinococcus granulosus" EXACT []
synonym: "unilocular echinococcosis" EXACT []
synonym: "unilocular hydatid disease" EXACT []
xref: ICD10CM:B67.4
xref: ICD9CM:122.4
is_a: DOID:0080001 ! bone disease
is_a: DOID:114 ! heart disease
is_a: DOID:1496 ! echinococcosis
is_a: DOID:409 ! liver disease
is_a: DOID:850 ! lung disease
is_a: DOID:936 ! brain disease
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:1496
name: echinococcosis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. (DO)" [http://en.wikipedia.org/wiki/Echinococcosis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=echinococcosis "DO"]
synonym: "echinococcal disease" EXACT []
synonym: "echinococcoses" EXACT []
synonym: "echinococcosis of liver" EXACT []
synonym: "hepatic echinococcosis" EXACT []
synonym: "Hydatid Cyst" EXACT []
synonym: "Hydatid Cysts" EXACT []
synonym: "hydatid disease" EXACT []
synonym: "Hydatidoses" EXACT []
synonym: "hydatidosis" EXACT []
synonym: "liver echinococcus" EXACT []
xref: EFO:0007245
xref: ICD10CM:B67
xref: ICD9CM:122
xref: MESH:D004443
xref: NCI:C84682
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:9006970 ! Cestode Infections

[Term]
id: DOID:1498
name: cholera
def: "A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. (DO)" [http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/#what "DO", http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html "DO"]
synonym: "cholera due to Vibrio cholerae" EXACT []
synonym: "choleras" EXACT []
synonym: "cholera - Vibrio cholerae" EXACT []
synonym: "Vibrio cholerae" EXACT []
xref: GARD:6043
xref: ICD10CM:A00
xref: ICD9CM:001
xref: MESH:D002771
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9001564 ! Vibrio Infections

[Term]
id: DOID:15
name: reproductive system disease
alt_id: DOID:6309
def: "A disease of anatomical entity that is located_in reproductive system organs. (DO)" [http://en.wikipedia.org/wiki/Reproductive_system "DO"]
synonym: "genital system disease" EXACT []
xref: EFO:0000512
xref: NCI:C27613
is_a: DOID:7 ! disease of anatomical entity
is_a: DOID:9009146 ! Urogenital Diseases

[Term]
id: DOID:150
name: disease of mental health
def: "A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. (DO)" [http://en.wikipedia.org/wiki/Mental_disorder "DO"]
subset: RGD_JBrowse_slim
synonym: "behavior disorders" EXACT []
synonym: "Mental Disorder" EXACT []
synonym: "mental disorders" EXACT []
synonym: "Psychiatric Diagnosis" EXACT []
synonym: "severe mental disorder" EXACT []
synonym: "severe mental disorders" EXACT []
xref: EFO:0000677
xref: EFO:0001335
xref: ICD10CM:F99
xref: MESH:D001523
xref: NCI:C2893
is_a: DOID:936 ! brain disease

[Term]
id: DOID:1508
name: candidiasis
def: "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. (DO)" [http://en.wikipedia.org/wiki/Candidiasis "DO", http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ "DO"]
synonym: "candidiases" EXACT []
synonym: "disseminated candidiasis" EXACT []
synonym: "familial candidiasis, dominant" NARROW []
synonym: "moniliases" EXACT []
synonym: "moniliasis" EXACT []
xref: ICD10CM:B37
xref: ICD9CM:112
xref: MESH:D002177
xref: MONDO:0002026
xref: NCI:C26711
is_a: DOID:1564 ! fungal infectious disease
is_a: DOID:2473 ! opportunistic mycosis

[Term]
id: DOID:1509
name: avoidant personality disorder
def: "A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. (DO)" [http://en.wikipedia.org/wiki/Avoidant_personality_disorder "DO"]
synonym: "anxious personality disorder" EXACT []
xref: ICD10CM:F60.6
xref: ICD9CM:301.82
xref: NCI:C92636
is_a: DOID:1510 ! personality disorder
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:1510
name: personality disorder
def: "A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. (DO)" [http://www.nlm.nih.gov/medlineplus/personalitydisorders.html "DO"]
synonym: "As If Personality" EXACT []
synonym: "character disorder" EXACT []
synonym: "Impulse Ridden Personality" EXACT []
synonym: "Inadequate Personality" EXACT []
synonym: "personality disorders" EXACT []
xref: ICD9CM:301.8
xref: MESH:D010554
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:1512
name: chronic gonorrhea of cervix
def: "A chronic cervicitis that is caused by gonorrhea. (DO)" [https://en.wikipedia.org/wiki/Gonorrhea "DO"]
synonym: "chronic gonococcal cervicitis" EXACT []
xref: ICD9CM:098.35
xref: MONDO:0002029
is_a: DOID:1513 ! chronic cervicitis
is_a: DOID:7551 ! gonorrhea
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:1513
name: chronic cervicitis
def: "A cervicitis that is present for weeks or more. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27243142 "DO"]
xref: NCI:C27057
is_a: DOID:2568 ! cervicitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:1517
name: cecal benign neoplasm
def: "An intestinal benign neoplasm that is located_in the cecum. (DO)" [http://en.wikipedia.org/wiki/Cecum "DO"]
synonym: "cecum neoplasm" EXACT []
synonym: "neoplasm of caecum" EXACT []
xref: EFO:0007197
xref: EFO:0009255
xref: NCI:C4433
is_a: DOID:4610 ! intestinal benign neoplasm
is_a: DOID:9003694 ! Cecal Neoplasms
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:1518
name: cecal disease
def: "An intestinal disease located_in the cecum. (DO)" [https://en.wikipedia.org/wiki/Cecum "DO"]
synonym: "cecal diseases" EXACT []
synonym: "disorder of cecum" EXACT []
xref: MESH:D002429
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:1519
name: cecum carcinoma
def: "A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "caecum carcinoma" EXACT []
synonym: "carcinoma of cecum" EXACT []
xref: EFO:1000021
xref: NCI:C3491
is_a: DOID:1521 ! cecum cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:1520
name: colon carcinoma
def: "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "carcinoma of colon" EXACT []
synonym: "colonic carcinoma" EXACT []
xref: EFO:0000363
xref: EFO:1001950
xref: NCI:C4910
xref: RDO:9002019
is_a: DOID:219 ! colon cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:1521
name: cecum cancer
def: "A large intestine cancer that is located_in the cecum. (DO)" [http://en.wikipedia.org/wiki/Cecum "DO"]
synonym: "cancer of cecum" EXACT []
synonym: "cancer of the cecum" EXACT []
synonym: "cecal cancer" EXACT []
synonym: "malignant neoplasm of caecum" EXACT []
synonym: "malignant tumor of the cecum" EXACT []
xref: ICD10CM:C18.0
xref: ICD9CM:153.4
xref: NCI:C9329
is_a: DOID:5672 ! large intestine cancer
is_a: DOID:9003694 ! Cecal Neoplasms
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:1522
name: cecum lymphoma
synonym: "cecal lymphoma" EXACT []
xref: NCI:C5515
is_a: DOID:0060058 ! lymphoma
is_a: DOID:1521 ! cecum cancer
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:1523
name: colon lymphoma
synonym: "colonic lymphoma" EXACT []
xref: NCI:C4793
is_a: DOID:0060058 ! lymphoma
is_a: DOID:219 ! colon cancer
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:1525
name: nodular nonsuppurative panniculitis
def: "A form of panniculitis characterized by recurrent episodes of fever accompanied by the eruption of single or multiple erythematous subcutaneous nodules on the lower extremities. They normally resolve, but tend to leave depressions in the skin. The condition is most often seen in women, alone or in association with other disorders." [MESH:D010201]
synonym: "nodular non-suppurative febrile panniculitis" EXACT [SNOMEDCT_2005_07_31:203121003]
synonym: "Nodular Nonsuppurative Panniculitides" EXACT []
synonym: "Relapsing febrile nodular nonsuppurative panniculitis" EXACT [SNOMEDCT_2005_07_31:33760009]
synonym: "Weber Christian Disease" EXACT []
xref: EFO:1000742
xref: ICD10CM:M35.6
xref: MESH:D010201
xref: RDO:0006272
is_a: DOID:1526 ! panniculitis

[Term]
id: DOID:1526
name: panniculitis
def: "A skin disease that is characterized by inflammation of subcutaneous adipose tissue. (DO)" [https://en.wikipedia.org/wiki/Panniculitis "DO"]
synonym: "Cold Panniculitides" EXACT []
synonym: "cold panniculitis" EXACT []
synonym: "panniculitides" EXACT []
synonym: "subacute nodular migratory panniculitis" EXACT []
xref: EFO:1000746
xref: ICD10CM:M79.3
xref: ICD9CM:729.30
xref: MESH:D015434
xref: NCI:C112112
is_a: DOID:10223 ! dermatomyositis
is_a: DOID:631 ! fibromyalgia

[Term]
id: DOID:1529
name: penile disease
def: "Pathological processes involving the PENIS or its component tissues." [MESH:D010409]
synonym: "penile diseases" EXACT []
synonym: "penis disease" EXACT []
synonym: "penis diseases" EXACT []
xref: ICD10CM:N48.8
xref: ICD10CM:N48.89
xref: ICD9CM:607.8
xref: MESH:D010409
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:1532
name: pleural disease
def: "A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. (DO)" [http://en.wikipedia.org/wiki/Pleural_disease "DO"]
synonym: "disorder of pleura" EXACT []
synonym: "non-neoplastic pleural disease" EXACT []
synonym: "pleural diseases" EXACT []
xref: MESH:D010995
xref: NCI:C26859
is_a: DOID:0050161 ! lower respiratory tract disease

[Term]
id: DOID:154
name: mixed cell type cancer
def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue. (DO)" [http://medical-dictionary.thefreedictionary.com/mixed+neoplasm "DO"]
synonym: "malignant mixed cancer" EXACT []
synonym: "malignant mixed neoplasm" RELATED [NCI2004_11_17:C3729]
synonym: "mixed neoplasm" RELATED []
synonym: "mixed tumor" RELATED []
xref: EFO:0007373
xref: EFO:1000356
xref: NCI:C3729
xref: NCI:C6930
is_a: DOID:0050687 ! cell type cancer
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:1540
name: parathyroid carcinoma
alt_id: MIM:608266
def: "An endocrine gland cancer located_in the parathyroid glands located in the neck. (DO)" [http://en.wikipedia.org/wiki/Parathyroid_gland "DO"]
synonym: "carcinoma of parathyroid gland" EXACT []
synonym: "malignant neoplasm of parathyroid gland" EXACT []
synonym: "malignant neoplasm of the parathyroid" EXACT [NCI2004_11_17:C9322]
synonym: "malignant tumor of parathyroid gland" EXACT []
synonym: "neoplasm of parathyroid gland" EXACT [SNOMEDCT_2005_07_31:127020005]
synonym: "parathyroid carcinomas" EXACT []
synonym: "parathyroid carcinoma, somatic" NARROW []
synonym: "parathyroid gland adenocarcinoma" EXACT []
synonym: "parathyroid gland cancer" EXACT []
synonym: "PRTC" EXACT []
xref: EFO:1000456
xref: GARD:7329
xref: ICD10CM:C75.0
xref: ICD9CM:194.1
xref: NCI:C3313
xref: NCI:C4906
xref: NCI:C9322
xref: RDO:9003921
is_a: DOID:305 ! carcinoma
is_a: DOID:9007696 ! Parathyroid Cancer
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:1542
name: head and neck carcinoma
def: "A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx. (DO)" [http://en.wikipedia.org/wiki/Head_and_neck_cancer "DO", http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.09e&code=C35850&ns=NCI_Thesaurus&key=153772862&b=1&n=null "DO", http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck "DO"]
synonym: "carcinoma of neck" EXACT []
synonym: "carcinoma of the neck" EXACT []
xref: MONDO:0002038
xref: NCI:C6077
is_a: DOID:11934 ! head and neck cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:1554
name: vibratory urticaria
alt_id: MESH:C536347
alt_id: MIM:125630
def: "A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26841242/ "DO"]
synonym: "VBU" EXACT []
synonym: "VIBRATORY ANGIOEDEMA" EXACT []
xref: EFO:1000775
xref: GARD:9806
xref: ICD10CM:L50.4
xref: ICD9CM:708.4
xref: MESH:D000094482
is_a: DOID:0060220 ! physical urticaria
is_a: DOID:1558 ! angioedema

[Term]
id: DOID:1555
name: urticaria
def: "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. (DO)" [http://en.wikipedia.org/wiki/Urticaria "DO"]
synonym: "Hives" EXACT []
synonym: "urticarias" EXACT []
xref: EFO:0005531
xref: ICD9CM:708.8
xref: MESH:D014581
is_a: DOID:9002850 ! Immediate Hypersensitivity
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:1556
name: arthus reaction
def: "A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls. (DO)" [https://en.wikipedia.org/wiki/Arthus_reaction "DO"]
synonym: "arthus phenomenon" EXACT []
synonym: "arthus type urticaria" EXACT []
xref: EFO:1000821
xref: ICD10CM:T78.41
xref: ICD9CM:995.21
xref: MESH:D001183
xref: NCI:C34400
is_a: DOID:1557 ! hypersensitivity reaction type III disease

[Term]
id: DOID:1557
name: hypersensitivity reaction type III disease
def: "A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury. (DO)" [https://en.wikipedia.org/wiki/Type_III_hypersensitivity "DO"]
synonym: "Immune Complex Disease" EXACT []
synonym: "Immune Complex Diseases" EXACT []
synonym: "Type III Hypersensitivities" EXACT []
synonym: "Type III Hypersensitivity" EXACT []
xref: EFO:1001222
xref: MESH:D007105
is_a: DOID:0060056 ! hypersensitivity reaction disease
is_a: DOID:1205 ! allergic disease

[Term]
id: DOID:1558
name: angioedema
def: "A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues. (DO)" [http://en.wikipedia.org/wiki/Angioedema "DO", https://www.ncbi.nlm.nih.gov/books/NBK430889/ "DO"]
synonym: "angioedemas" EXACT []
synonym: "Angioneurotic Edema" EXACT []
synonym: "angioneurotic edemas" EXACT []
synonym: "angioneurotic oedema" EXACT []
synonym: "Giant Urticaria" EXACT []
synonym: "Giant Urticarias" EXACT []
synonym: "Quincke's edema" EXACT []
synonym: "Quincke Edema" EXACT []
synonym: "Quinckes edema" EXACT []
xref: EFO:0005532
xref: ICD10CM:T78.3
xref: MESH:D000799
xref: MONDO:0010481
xref: NCI:C112175
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:1561
name: cognitive disorder
def: "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. (DO)" [http://en.wikipedia.org/wiki/Cognitive_disorder "DO"]
synonym: "Clerambault syndrome" EXACT []
synonym: "cognition disorder" EXACT []
synonym: "Cognition Disorders" EXACT []
synonym: "cognitive disease" EXACT []
synonym: "Delirium, Dementia, Amnestic, Cognitive Disorders" EXACT []
synonym: "Kandinsky Syndrome" EXACT []
synonym: "Neurocognitive Disorder" EXACT []
synonym: "Neurocognitive Disorders" EXACT []
synonym: "Nonpsychotic Organic Brain Syndrome" EXACT []
synonym: "Organic Mental Disorder" EXACT []
synonym: "Organic Mental Disorders" EXACT []
synonym: "overinclusion" EXACT []
synonym: "psychotic organic mental disorders" EXACT []
synonym: "traumatic psychoses" EXACT []
xref: EFO:1001457
xref: ICD10CM:F09
xref: MESH:D003072
xref: MESH:D019965
xref: NCI:C34870
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:1562
name: chromoblastomycosis
def: "A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4005 "DO"]
synonym: "chromoblastomycoses" EXACT []
synonym: "chromomycoses" EXACT []
synonym: "chromomycosis" EXACT []
synonym: "dermatitis verrucosa" EXACT []
synonym: "mossy foot disease" EXACT []
xref: EFO:0007207
xref: GARD:1319
xref: ICD10CM:B43.9
xref: ICD9CM:117.2
xref: MESH:D002862
is_a: DOID:0050135 ! subcutaneous mycosis
is_a: DOID:1563 ! dermatomycosis

[Term]
id: DOID:1563
name: dermatomycosis
def: "A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4004 "DO"]
synonym: "dermatomycoses" EXACT []
synonym: "fungal skin disease" EXACT []
synonym: "fungal skin diseases" EXACT []
xref: ICD9CM:111.9
xref: MESH:D003881
is_a: DOID:0050134 ! cutaneous mycosis
is_a: DOID:9000859 ! Infectious Skin Diseases

[Term]
id: DOID:1564
name: fungal infectious disease
def: "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. (DO)" [http://en.wikipedia.org/wiki/Mycoses "DO"]
synonym: "Fungal Disease" EXACT []
synonym: "fungal diseases" EXACT []
synonym: "Fungal Infection" EXACT []
synonym: "fungal infections" EXACT []
synonym: "Fungus Disease" EXACT []
synonym: "Fungus Diseases" EXACT []
synonym: "Fungus Infection" EXACT []
synonym: "fungus infections" EXACT []
synonym: "mycoses" EXACT []
synonym: "mycosis" EXACT []
xref: ICD10CM:B49
xref: ICD9CM:110-118.99
xref: MESH:D009181
xref: NCI:C3245
is_a: DOID:9004384 ! Bacterial Infections and Mycoses

[Term]
id: DOID:1569
name: mechanical ectropion
xref: ICD9CM:374.12
is_a: DOID:1570 ! ectropion

[Term]
id: DOID:1570
name: ectropion
def: "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)" []
synonym: "ectropion of eyelid" EXACT []
synonym: "ectropions" EXACT []
synonym: "everted margin" EXACT []
xref: ICD10CM:H02.1
xref: ICD9CM:374.1
xref: MESH:D004483
is_a: DOID:530 ! eyelid disease

[Term]
id: DOID:1571
name: spastic ectropion
xref: ICD9CM:374.13
is_a: DOID:1570 ! ectropion

[Term]
id: DOID:1572
name: normal pressure hydrocephalus
alt_id: MIM:236690
def: "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" [MESH:D006850]
synonym: "Hakim's Syndrome" EXACT []
synonym: "Hakim's syndromes" EXACT []
synonym: "Hakims Syndrome" EXACT []
synonym: "Hakim Syndrome" EXACT []
synonym: "Hakim Syndromes" EXACT []
synonym: "HYDNP1" EXACT []
synonym: "Low pressure hydrocephalus" EXACT [SNOMEDCT_2005_07_31:69663004]
synonym: "normal pressure hydrocephalus 1" EXACT []
synonym: "NPH (normal pressure hydrocephalus)" EXACT []
xref: EFO:1001065
xref: ICD10CM:G91.2
xref: MESH:D006850
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:1573 ! communicating hydrocephalus

[Term]
id: DOID:1573
name: communicating hydrocephalus
xref: ICD10CM:G91.0
xref: ICD9CM:331.3
xref: NCI:C34501
is_a: DOID:10908 ! hydrocephalus
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:1574
name: alcohol use disorder
def: "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Alcohol_abuse "DO", https://www.niaaa.nih.gov/alcohol-health/overview-alcohol-consumption/alcohol-use-disorders "DO"]
synonym: "alcohol abuse" EXACT []
synonym: "Beta-glycopyranoside tasting" RELATED []
synonym: "chronic alcoholic intoxication" EXACT []
synonym: "ethanol abuse" EXACT []
xref: ICD10CM:F10.1
xref: ICD9CM:305.0
xref: MESH:D000437
xref: NCI:C20701
is_a: DOID:302 ! substance abuse
is_a: DOID:9004354 ! Alcohol-Related Disorders

[Term]
id: DOID:1575
name: rheumatic disease
def: "A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. (DO)" [http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp "DO"]
synonym: "rheumatic diseases" EXACT []
synonym: "rheumatism" EXACT []
xref: EFO:0005755
xref: MESH:D012216
is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:1577
name: limited scleroderma
def: "The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." [MESH:D045745]
synonym: "limited cutaneous systemic sclerosis" EXACT []
synonym: "limited systemic scleroderma" EXACT []
synonym: "limited systemic sclerodermas" EXACT []
synonym: "limited systemic sclerosis" EXACT []
xref: EFO:1001017
xref: MESH:D045745
is_a: DOID:418 ! systemic scleroderma

[Term]
id: DOID:1578
name: pulmonary systemic sclerosis
synonym: "lung disease with systemic sclerosis" EXACT []
synonym: "lung involvement in systemic sclerosis" EXACT []
xref: ICD10CM:M34.81
xref: ICD9CM:517.2
is_a: DOID:418 ! systemic scleroderma
is_a: DOID:850 ! lung disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:1579
name: respiratory system disease
def: "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. (DO)" [http://en.wikipedia.org/wiki/File\:Respiratory_system_complete_en.svg "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory%20system "DO"]
subset: RGD_JBrowse_slim
synonym: "respiratory disease" EXACT []
synonym: "respiratory system diseases" EXACT []
xref: EFO:0000684
xref: ICD10CM:J98
xref: ICD9CM:519
xref: MESH:D012140
is_a: DOID:7 ! disease of anatomical entity

[Term]
id: DOID:1580
name: diffuse scleroderma
def: "A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability." [MESH:D045743]
synonym: "Diffuse Cutaneous Systemic Sclerosis" EXACT []
synonym: "diffuse systemic scleroses" EXACT []
synonym: "Diffuse Systemic Sclerosis" EXACT []
synonym: "Sudden Onset Scleroderma" EXACT []
synonym: "sudden onset sclerodermas" EXACT []
xref: EFO:0000404
xref: MESH:D045743
xref: NCI:C116791
is_a: DOID:418 ! systemic scleroderma

[Term]
id: DOID:1583
name: laryngeal tuberculosis
def: "A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. (DO)" [http://www.cdc.gov/mmwr/PDF/rr/rr5417.pdf "DO", http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16749607 "DO", http://www.springerlink.com/content/58281g77v7054641/fulltext.pdf "DO"]
synonym: "laryngeal tuberculoses" EXACT []
synonym: "larynx tuberculoses" EXACT []
synonym: "larynx tuberculosis" EXACT []
synonym: "Tuberculosis of Larynx" EXACT []
xref: EFO:0007337
xref: ICD10CM:A15.5
xref: ICD9CM:012.3
xref: MESH:D014387
xref: NCI:C26895
is_a: DOID:3437 ! laryngitis
is_a: DOID:399 ! tuberculosis
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:1584
name: acute chest syndrome
def: "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. (DO)" [http://en.wikipedia.org/wiki/Acute_chest_syndrome "DO"]
synonym: "acute chest syndrome in sickle cell disease" EXACT []
synonym: "Acute Chest Syndromes" EXACT []
xref: EFO:0007129
xref: ICD9CM:517.3
xref: MESH:D056586
xref: NCI:C138179
is_a: DOID:10923 ! sickle cell anemia
is_a: DOID:225 ! syndrome
is_a: DOID:850 ! lung disease
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:1586
name: rheumatic fever
alt_id: MIM:268240
def: "A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever. (DO)" [https://en.wikipedia.org/wiki/Rheumatic_fever "DO", https://medlineplus.gov/ency/article/003940.htm "DO"]
synonym: "Acute Articular Rheumatism" EXACT []
synonym: "Acute Articular Rheumatisms" EXACT []
synonym: "Acute Rheumatic Arthritides" EXACT []
synonym: "Acute Rheumatic Arthritis" EXACT []
synonym: "Acute Rheumatic Fever" EXACT []
synonym: "Acute Rheumatic Fevers" EXACT []
synonym: "Inflammatory Rheumatism" EXACT []
synonym: "Polyarthritis Rheumatica" EXACT []
synonym: "Polyarthritis Rheumaticas" EXACT []
synonym: "Rheumatic Arthritis" EXACT []
synonym: "Rheumatic Fevers" EXACT []
synonym: "RhF - rheumatic fever" EXACT []
xref: EFO:1001160
xref: GARD:5699
xref: ICD10CM:I00
xref: ICD10CM:I00-I02
xref: ICD9CM:390
xref: ICD9CM:390-392.99
xref: MESH:D012213
xref: NCI:C34984
is_a: DOID:1575 ! rheumatic disease
is_a: DOID:848 ! arthritis
is_a: DOID:9006844 ! Streptococcal Infections

[Term]
id: DOID:1587
name: thrombocytopenia due to platelet alloimmunization
synonym: "auto-immune thrombocytopenia" EXACT []
synonym: "immune thrombocytopenia" EXACT []
synonym: "thrombocytopenia due to immune destruction" EXACT []
xref: NCI:C3991
is_a: DOID:1588 ! thrombocytopenia
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:1588
name: thrombocytopenia
def: "A blood platelet disease that is characterized by low a platelet count in the blood. (DO)" [http://en.wikipedia.org/wiki/Thrombocytopenia "DO", http://ghr.nlm.nih.gov/glossary=thrombocytopenia "DO", http://www.merckmanuals.com/professional/hematology_and_oncology/thrombocytopenia_and_platelet_dysfunction/overview_of_platelet_disorders.html "DO"]
synonym: "thrombocytopenias" EXACT []
synonym: "thrombopenia" EXACT []
synonym: "thrombopenias" EXACT []
xref: ICD10CM:D69.6
xref: ICD9CM:287.5
xref: MESH:D013921
xref: MIM:PS313900
xref: MIM:PS613112
xref: ORDO:852
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:1591
name: renovascular hypertension
def: "Hypertension due to RENAL ARTERY OBSTRUCTION or compression." [MESH:D006978]
synonym: "Goldblatt Hypertension" EXACT []
synonym: "Goldblatt Syndrome" EXACT []
synonym: "renal vascular hypertension" EXACT []
xref: EFO:1001153
xref: ICD10CM:I15.0
xref: MESH:D006978
xref: NCI:C85044
is_a: DOID:1073 ! renal hypertension

[Term]
id: DOID:1595
name: melancholic depression
alt_id: DOID:2848
def: "A major depressive disorder characterized by near-complete absence of pleasure. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15596079/ "DO"]
synonym: "clinical depression" EXACT []
synonym: "endogenous depression" EXACT []
synonym: "endogenous depressions" EXACT []
synonym: "major depressive disorder with melancholic features" EXACT []
synonym: "melancholia" EXACT []
synonym: "melancholias" EXACT []
xref: EFO:1002014
xref: NCI:C34532
xref: NCI:C34812
xref: NCI:C35094
is_a: DOID:1470 ! major depressive disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:1596
name: depressive disorder
def: "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function. (DO)" [https://my.clevelandclinic.org/health/diseases/9290-depression "DO", https://pubmed.ncbi.nlm.nih.gov/31550874/ "DO"]
synonym: "depression" EXACT []
synonym: "depressive disorders" EXACT []
synonym: "depressive neuroses" EXACT []
synonym: "depressive neurosis" EXACT []
synonym: "depressive syndrome" EXACT []
synonym: "depressive syndromes" EXACT []
synonym: "depressivity" EXACT []
synonym: "mental depression" EXACT []
synonym: "unipolar depression" EXACT []
synonym: "unipolar depressions" EXACT []
xref: ICD10CM:F33.9
xref: MESH:D003866
xref: NCI:C2982
is_a: DOID:3324 ! mood disorder

[Term]
id: DOID:16
name: integumentary system disease
def: "A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. (DO)" [http://en.wikipedia.org/wiki/Integumentary_system "DO"]
subset: RGD_JBrowse_slim
xref: EFO:0010285
is_a: DOID:7 ! disease of anatomical entity

[Term]
id: DOID:1602
name: lymphadenitis
def: "A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/lymphadenitis "DO"]
synonym: "acute adenitis" EXACT []
synonym: "acute lymphadenitis" EXACT []
synonym: "Adenitides" EXACT []
synonym: "Adenitis" EXACT []
synonym: "chronic adenitis" EXACT []
synonym: "chronic lymphadenitis" EXACT []
synonym: "inflammation of lymph node" EXACT []
synonym: "Lymphadenitides" EXACT []
xref: ICD10CM:I88.1
xref: ICD10CM:L04
xref: ICD10CM:L04.9
xref: ICD9CM:289.1
xref: ICD9CM:683
xref: MESH:D008199
xref: NCI:C26821
xref: NCI:C26966
xref: NCI:C26978
is_a: DOID:9942 ! lymph node disease

[Term]
id: DOID:1607
name: hypoglycemic coma
def: "A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma. (DO)" [https://en.wikipedia.org/wiki/Hypoglycemia "DO", https://www.mayoclinic.org/diseases-conditions/diabetic-coma/symptoms-causes/syc-20371475 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1838950/ "DO"]
xref: ICD10CM:E15
xref: ICD9CM:251.0
xref: NCI:C181765
is_a: DOID:1428 ! endocrine pancreas disease
is_a: DOID:936 ! brain disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:161
name: keratosis
def: "A skin disease characterized_by growth of keratin on the skin or mucous membranes. (DO)" [https://en.wikipedia.org/wiki/Keratosis "DO"]
synonym: "Keratoderma Blennorrhagicum" EXACT []
synonym: "Keratoma" EXACT []
synonym: "Keratomas" EXACT []
synonym: "Keratoses" EXACT []
synonym: "Keratosis Blennorrhagica" EXACT []
xref: EFO:1000720
xref: MESH:D007642
xref: NCI:C34747
is_a: DOID:37 ! skin disease

[Term]
id: DOID:1612
name: breast cancer
alt_id: MIM:114480
def: "A thoracic cancer that originates in the mammary gland. (DO)" [http://en.wikipedia.org/wiki/Breast_cancer "DO", http://en.wikipedia.org/wiki/Mammary "DO", http://www.cancer.gov/cancertopics/types/breast "DO", http://www.nlm.nih.gov/medlineplus/breastcancer.html "DO", https://www.genome.gov/Genetic-Disorders/Breast-Cancer "DO"]
synonym: "BRCATA" EXACT []
synonym: "breast cancer, 11-22 translocation-associated" NARROW []
synonym: "breast cancer, early onset" NARROW []
synonym: "breast cancer, invasive ductal" NARROW []
synonym: "breast cancer, lobular" NARROW []
synonym: "breast cancer, post-chemotherapy poor survival in" RELATED []
synonym: "breast cancer, protection against" RELATED []
synonym: "breast cancer, somatic" RELATED []
synonym: "breast cancer, susceptibility to" RELATED []
synonym: "breast malignant neoplasms" EXACT []
synonym: "breast malignant tumor" EXACT []
synonym: "breast malignant tumors" EXACT []
synonym: "cancer of breast" EXACT []
synonym: "HEREDITARY BREAST CANCER, ABRAXAS1-RELATED" NARROW []
synonym: "malignant neoplasm breast" EXACT []
synonym: "malignant neoplasm of breast" EXACT []
synonym: "malignant neoplasm of female breast" EXACT []
synonym: "malignant tumor of breast" EXACT []
synonym: "malignant tumor of the breast" EXACT []
synonym: "mammary cancer" EXACT []
synonym: "mammary tumor" EXACT []
synonym: "PMS1-RELATED BREAST CANCER" NARROW []
synonym: "PPM1D-RELATED CONDITION" BROAD []
synonym: "primary breast cancer" EXACT []
xref: EFO:0009649
xref: ICD10CM:C50
xref: MONDO:0007254
xref: NCI:C9335
is_a: DOID:5093 ! thoracic cancer
is_a: DOID:9008939 ! Breast Neoplasms
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:1614
name: male breast cancer
def: "A breast cancer that occurs in males. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24131976 "DO"]
synonym: "malignant neoplasm of male breast" EXACT []
synonym: "neoplasm of male breast" EXACT [SNOMEDCT_2005_07_31:126937006]
xref: EFO:0006861
xref: GARD:9312
is_a: DOID:1612 ! breast cancer
is_a: DOID:9000357 ! Male Breast Neoplasms

[Term]
id: DOID:1616
name: benign eccrine breast spiradenoma
def: "A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25284865/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26236527/ "DO"]
xref: NCI:C5193
is_a: DOID:0060082 ! breast benign neoplasm

[Term]
id: DOID:1618
name: breast fibroadenoma
def: "A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. (DO)" [http://en.wikipedia.org/wiki/Fibroadenoma "DO", http://www.nlm.nih.gov/medlineplus/ency/article/007216.htm "DO"]
synonym: "cellular fibroadenoma" EXACT []
synonym: "complex fibroadenoma of breast" EXACT []
synonym: "fibroadenoma of breast" EXACT []
synonym: "juvenile fibroadenoma" EXACT []
synonym: "juvenile fibroadenoma of breast" EXACT []
xref: ICD10CM:D24
xref: NCI:C3744
xref: NCI:C4276
xref: NCI:C5194
is_a: DOID:0060082 ! breast benign neoplasm
is_a: DOID:9006947 ! Fibroadenoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:162
name: cancer
def: "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. (DO)" [http://en.wikipedia.org/wiki/cancer "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cancer "DO"]
synonym: "cancers" EXACT []
synonym: "childhood cancer" NARROW []
synonym: "malignant neoplasm" EXACT []
synonym: "malignant tumor" EXACT []
synonym: "primary cancer" EXACT []
xref: EFO:0000311
xref: EFO:1000654
xref: ICD10CM:C80.1
xref: ICD9CM:199
xref: ICDO:8000/3
xref: MONDO:0004992
xref: NCI:C9305
is_a: DOID:14566 ! disease of cellular proliferation
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:1623
name: breast leiomyoma
def: "A breast benign neoplasm that has_material_basis_in smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/ "DO"]
xref: NCI:C40399
xref: RDO:9003367
is_a: DOID:0060082 ! breast benign neoplasm
is_a: DOID:127 ! leiomyoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:1625
name: breast adenoma
def: "A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/949710 "DO"]
synonym: "ademoma - breast" EXACT []
xref: NCI:C40382
is_a: DOID:0060082 ! breast benign neoplasm
is_a: DOID:657 ! adenoma

[Term]
id: DOID:1626
name: breast duct papilloma
def: "An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue. (DO)" [https://en.wikipedia.org/wiki/Intraductal_papilloma "DO"]
synonym: "duct papilloma of breast" EXACT []
synonym: "Intraductal Breast Papilloma" EXACT []
synonym: "papilloma of the breast" EXACT []
xref: EFO:1000306
xref: NCI:C3863
is_a: DOID:1628 ! intraductal papillary breast neoplasm
is_a: DOID:2615 ! papilloma

[Term]
id: DOID:1627
name: intraductal papilloma
def: "A small, often impalpable benign papilloma arising in a lactiferous duct and frequently causing bleeding from the nipple. (Stedman, 25th ed)" [MESH:D018300]
synonym: "ductal papilloma" EXACT []
synonym: "intraductal papillomas" EXACT []
xref: ICDO:8503/0
xref: MESH:D018300
xref: NCI:C3785
is_a: DOID:2615 ! papilloma
is_a: DOID:3013 ! intraductal breast benign neoplasm
is_a: DOID:9008490 ! Ductal, Lobular, and Medullary Neoplasms

[Term]
id: DOID:1628
name: intraductal papillary breast neoplasm
def: "An intraductal breast benign neoplasm that is characterized by fingerlike growth projections. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22336153 "DO"]
xref: NCI:C36090
is_a: DOID:3013 ! intraductal breast benign neoplasm

[Term]
id: DOID:1629
name: breast myofibroblastoma
def: "A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation. (DO)" [http://www.pathologyoutlines.com/topic/breastmyofibroblastoma.html "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199680/ "DO"]
xref: NCI:C40397
is_a: DOID:0060082 ! breast benign neoplasm

[Term]
id: DOID:1631
name: benign breast phyllodes tumor
def: "A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast. (DO)" [https://en.wikipedia.org/wiki/Phyllodes_tumor "DO"]
synonym: "benign cystosarcoma phyllodes" EXACT []
synonym: "benign phyllodes neoplasm" EXACT []
synonym: "benign phyllodes neoplasm of the breast" EXACT []
synonym: "benign phyllodes tumor" EXACT []
synonym: "cystosarcoma phyllodes" EXACT []
synonym: "phyllodes neoplasm" EXACT []
xref: ICD10CM:D48.6
xref: NCI:C2977
xref: NCI:C4274
xref: NCI:C5196
is_a: DOID:0060082 ! breast benign neoplasm
is_a: DOID:9004240 ! Phyllodes Tumor
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:1637
name: breast angiomatosis
def: "A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia. (DO)" [http://surgpathcriteria.stanford.edu/breast/angiomatosisbr/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/23488550 "DO"]
xref: NCI:C40381
is_a: DOID:1271 ! capillary disease
is_a: DOID:3463 ! breast disease
is_a: DOID:9004079 ! Angiomatosis
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:1638
name: central nervous system tuberculosis
def: "An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. (DO)" [https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"]
synonym: "tuberculoma of brain" EXACT []
synonym: "tuberculosis of meninges and central nervous system" EXACT []
synonym: "tuberculous abscess of brain" EXACT []
xref: EFO:0007199
xref: ICD9CM:013.2
xref: MESH:D020306
is_a: DOID:0050598 ! extrapulmonary tuberculosis
is_a: DOID:9002742 ! Central Nervous System Bacterial Infections

[Term]
id: DOID:1639
name: skeletal tuberculosis
def: "An extrapulmonary tuberculosis that results in formation of lesions located in bone. (DO)" [http://en.wikipedia.org/wiki/Bone_Tuberculosis "DO"]
synonym: "bone tuberculoses" EXACT []
synonym: "Bone Tuberculosis" EXACT []
synonym: "Joint Tuberculoses" EXACT []
synonym: "Joint Tuberculosis" EXACT []
synonym: "osteoarticular tuberculoses" EXACT []
synonym: "osteoarticular tuberculosis" EXACT []
xref: EFO:0007487
xref: ICD10CM:A18.0
xref: ICD9CM:015.9
xref: MESH:D014394
is_a: DOID:0050598 ! extrapulmonary tuberculosis
is_a: DOID:9007047 ! Infectious Bone Diseases

[Term]
id: DOID:1641
name: benign breast adenomyoepithelioma
def: "A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23627458 "DO"]
synonym: "benign adenomyoepithelioma of the breast" EXACT []
xref: NCI:C5144
is_a: DOID:0060082 ! breast benign neoplasm

[Term]
id: DOID:1642
name: breast adenomyoepithelioma
def: "A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. (DO)" [http://www.ajronline.org/cgi/content/full/180/3/799 "DO"]
synonym: "adenomyoepithelioma of the breast" EXACT []
synonym: "breast adenomyoepithelioma with malignant change" EXACT []
synonym: "malignant adenomyoepithelioma of breast" EXACT []
xref: NCI:C5143
xref: NCI:C6899
is_a: DOID:3004 ! breast myoepithelial neoplasm
is_a: DOID:9000394 ! Adenomyoepithelioma

[Term]
id: DOID:1647
name: female breast upper-inner quadrant cancer
def: "A female breast cancer that is located_in the upper-inner quadrant of the breast. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/ "DO"]
synonym: "malignant neoplasm of upper-inner quadrant of female breast" EXACT []
xref: ICD9CM:174.2
xref: RDO:9001787
is_a: DOID:0050671 ! female breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:1649
name: female breast lower-inner quadrant cancer
def: "A female breast cancer that is located_in the lower-inner quadrant of the breast. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/ "DO"]
synonym: "malignant neoplasm of lower-inner quadrant of female breast" EXACT []
xref: ICD10CM:C50.31
xref: ICD9CM:174.3
xref: RDO:9001788
is_a: DOID:0050671 ! female breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:1650
name: female breast axillary tail cancer
def: "A female breast cancer that is located_in the breast tissue extending into the axilla. (DO)" [https://en.wikipedia.org/wiki/Tail_of_Spence "DO", https://www.ncbi.nlm.nih.gov/pubmed/24004816 "DO"]
synonym: "malignant neoplasm of axillary tail of female breast" EXACT []
xref: ICD10CM:C50.61
xref: ICD9CM:174.6
xref: RDO:9001789
is_a: DOID:0050671 ! female breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:1657
name: ventricular septal defect
def: "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. (DO)" [http://en.wikipedia.org/wiki/Ventricular_septal_defect "DO", http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/ventricular_septal_defect_vsd.html "DO"]
synonym: "congenital ventricular septal defect" EXACT []
synonym: "interventricular septal defect" EXACT []
synonym: "intraventricular septal defect" EXACT []
synonym: "intraventricular septal defects" EXACT []
synonym: "ventricular heart septal defects" EXACT []
synonym: "ventricular septal abnormality" EXACT []
synonym: "ventricular septal defects" EXACT []
xref: GARD:7853
xref: ICD10CM:Q21.0
xref: ICD9CM:745.4
xref: MESH:D006345
xref: MIM:PS614429
xref: NCI:C84506
xref: ORDO:1480
is_a: DOID:1681 ! heart septal defect

[Term]
id: DOID:1659
name: supratentorial cancer
def: "A brain cancer that is located in the supratentorial region. (DO)" [http://en.wikipedia.org/wiki/Tentorium_cerebelli "DO"]
synonym: "malignant supratentorial tumor" EXACT []
synonym: "supratentorial brain neoplasm" EXACT []
xref: ICD10CM:C71.0
xref: NCI:C3397
xref: NCI:C4964
is_a: DOID:1319 ! brain cancer
is_a: DOID:9006537 ! Supratentorial Neoplasms

[Term]
id: DOID:166
name: melanotic neuroectodermal tumor
def: "A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. Its source of origin is in dispute, the various theories giving rise to its several names. (Dorland, 27th ed)" [MESH:D017600]
synonym: "Infantile Melanotic neuroectodermal neoplasm" EXACT []
synonym: "Melanoameloblastoma" EXACT []
synonym: "melanoameloblastomas" EXACT []
synonym: "Melanotic neuroectodermal tumor of infancy" EXACT []
synonym: "Melanotic Neuroectodermal Tumors" EXACT []
synonym: "melanotic neuroectodermal tumour" EXACT []
synonym: "Melanotic neuroectodermal tumour of infancy" EXACT []
synonym: "Melanotic Progonoma" EXACT []
synonym: "Melanotic Progonomas" EXACT []
synonym: "Pigmented neuroectodermal tumour of infancy" EXACT []
synonym: "Retinal Anlage Tumor" EXACT []
synonym: "retinal anlage tumors" EXACT []
xref: EFO:1001038
xref: ICDO:9363/0
xref: MESH:D017600
xref: NCI:C3717
is_a: DOID:0060094 ! bone benign neoplasm
is_a: DOID:171 ! neuroectodermal tumor

[Term]
id: DOID:1660
name: malignant pineal area germ cell neoplasm
synonym: "malignant pineal parenchymal germ cell tumor" EXACT []
synonym: "pineal germ cell tumor" EXACT []
synonym: "pineal region germ cell tumor" EXACT []
xref: GARD:12017
xref: NCI:C4659
xref: NCI:C6767
is_a: DOID:5032 ! pineal gland cancer

[Term]
id: DOID:1664
name: pineoblastoma
def: "A pineal gland neoplasm located_in the brain. (DO)" [http://en.wikipedia.org/wiki/Pinealoblastoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/28327927 "DO"]
synonym: "pineal PNET" EXACT []
synonym: "pineoblastomas" EXACT []
xref: EFO:1000475
xref: GARD:9369
xref: NCI:C9344
is_a: DOID:5032 ! pineal gland cancer
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:1670
name: Behcet's syndrome arthropathy
synonym: "Arthropathy in Behcet's syndrome involving ankle and foot" EXACT []
synonym: "Arthropathy in Behcet's syndrome involving forearm" EXACT []
synonym: "Arthropathy in Behcet's syndrome involving hand" EXACT []
synonym: "Arthropathy in Behcet's syndrome involving lower leg" EXACT []
synonym: "Arthropathy in Behcet's syndrome involving multiple sites" EXACT []
synonym: "Arthropathy in Behcet's syndrome involving pelvic region and thigh" EXACT []
synonym: "Arthropathy in Behcet's syndrome involving shoulder region" EXACT []
synonym: "Arthropathy in Behcet's syndrome involving upper arm" EXACT []
synonym: "Behcet syndrome arthropathy" EXACT []
xref: ICD9CM:711.2
xref: NCI:C35225
xref: RDO:9004006
is_a: DOID:381 ! arthropathy
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:1672
name: spontaneous tension pneumothorax
def: "A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29961427 "DO"]
xref: ICD10CM:J93.0
xref: ICD9CM:512.0
is_a: DOID:1673 ! pneumothorax

[Term]
id: DOID:1673
name: pneumothorax
def: "A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall. (DO)" [https://en.wikipedia.org/wiki/Pneumothorax "DO", https://medlineplus.gov/ency/article/000087.htm "DO"]
synonym: "pressure pneumothorax" EXACT []
synonym: "spontaneous pneumothorax" EXACT []
synonym: "tension pneumothorax" EXACT []
xref: ICD10CM:J93.1
xref: MESH:D011030
xref: MONDO:0002076
is_a: DOID:1532 ! pleural disease

[Term]
id: DOID:1677
name: low implantation of placenta
xref: ICD9CM:641.0
is_a: DOID:11060 ! placenta praevia

[Term]
id: DOID:1678
name: chronic interstitial cystitis
def: "A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency. (DO)" [https://en.wikipedia.org/wiki/Interstitial_cystitis "DO", https://www.mayoclinic.org/diseases-conditions/interstitial-cystitis/symptoms-causes/syc-20354357 "DO"]
xref: EFO:0008507
xref: EFO:1000869
xref: ICD10CM:N30.1
xref: ICD9CM:595.1
is_a: DOID:13949 ! interstitial cystitis
is_a: DOID:1680 ! chronic cystitis
is_a: DOID:65 ! connective tissue disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:1679
name: cystitis
def: "A bladder disease that is characterized by inflammation of the bladder. (DO)" [https://www.mayoclinic.org/diseases-conditions/cystitis/symptoms-causes/syc-20371306 "DO"]
synonym: "Cystitides" EXACT []
xref: EFO:1000025
xref: ICD10CM:N30
xref: ICD9CM:595
xref: MESH:D003556
xref: NCI:C26738
is_a: DOID:365 ! bladder disease

[Term]
id: DOID:1680
name: chronic cystitis
def: "Recurrent infections of the urinary bladder. (NCI)" []
xref: EFO:1000023
xref: ICD10CM:N30.2
xref: ICD9CM:595.2
xref: MONDO:0006030
xref: NCI:C27008
is_a: DOID:1679 ! cystitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:1681
name: heart septal defect
def: "Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both." [MESH:D006343]
synonym: "cardiac septal defects" EXACT []
synonym: "congenital heart septal defects" EXACT []
synonym: "congenital septal defect of heart" EXACT []
synonym: "heart septal defects" EXACT []
synonym: "septal defect" EXACT []
xref: ICD10CM:Q21.9
xref: MESH:D006343
xref: MONDO:0002078
xref: NCI:C84482
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:1682
name: congenital heart disease
def: "Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life." [MESH:D006330]
synonym: "congenital anomaly of cardiovascular system" EXACT []
synonym: "congenital anomaly of heart" EXACT []
synonym: "congenital heart defect" EXACT []
synonym: "congenital heart defects" EXACT []
synonym: "Heart Abnormalities" EXACT []
synonym: "Heart Abnormality" EXACT []
synonym: "heart defect" EXACT []
synonym: "heart malformation" EXACT []
synonym: "Heart, Malformation Of" EXACT []
synonym: "isolated nonsyndromic congenital heart disease" NARROW []
synonym: "malformation of the heart" EXACT []
synonym: "malformation of the heart and great vessels" NARROW []
xref: EFO:0005207
xref: EFO:0005269
xref: ICD10CM:Q24.9
xref: ICD9CM:746.9
xref: MESH:D006330
xref: MIM:PS212093
xref: MONDO:0024239
xref: NCI:C34666
xref: NCI:C95834
is_a: DOID:0080015 ! physical disorder
is_a: DOID:114 ! heart disease
is_a: DOID:9002682 ! Cardiovascular Abnormalities
is_a: DOID:9008582 ! Developmental Disease

[Term]
id: DOID:1686
name: glaucoma
def: "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. (DO)" [https://en.wikipedia.org/wiki/Glaucoma "DO", https://www.aao.org/eye-health/diseases/what-is-glaucoma "DO"]
synonym: "glaucomas" EXACT []
xref: EFO:0000516
xref: ICD10CM:H40
xref: ICD9CM:365
xref: MESH:D005901
xref: MONDO:0005041
xref: NCI:C26782
is_a: DOID:5614 ! eye disease
is_a: DOID:9282 ! ocular hypertension

[Term]
id: DOID:1687
name: neovascular glaucoma
def: "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases. (DO)" [https://journalretinavitreous.biomedcentral.com/articles/10.1186/s40942-016-0051-x "DO"]
synonym: "neovascular glaucomas" EXACT []
synonym: "secondary angle-closure glaucoma with rubeosis" EXACT []
xref: EFO:1001060
xref: MESH:D015355
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:169
name: neuroendocrine tumor
def: "An endocrine gland cancer that has_material_basis_in neuroendocrine cells. (DO)" [http://en.wikipedia.org/wiki/Neuroendocrine_cell "DO", http://en.wikipedia.org/wiki/Neuroendocrine_tumor "DO", http://www.cancer.gov/dictionary?CdrID=44904 "DO"]
synonym: "neuroendocrine neoplasm" EXACT []
synonym: "neuroendocrine tumors" EXACT []
xref: EFO:1001901
xref: ICD10CM:D3A.8
xref: ICD9CM:209-209.99
xref: ICDO:8240/3
xref: MESH:D018358
xref: NCI:C3809
is_a: DOID:170 ! endocrine gland cancer
is_a: DOID:171 ! neuroectodermal tumor

[Term]
id: DOID:1697
name: ichthyosis
alt_id: OMIA:002099
def: "A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. (DO)" [http://purl.obolibrary.org/obo/HP_0008064 "DO", http://www.dermnetnz.org/topics/ichthyosis/ "DO", https://en.wikipedia.org/wiki/Ichthyosis "DO", https://www.ncbi.nlm.nih.gov/books/NBK1420/ "DO"]
synonym: "Ichthyoses" EXACT []
synonym: "Ichthyosis, ASPRV1-related" NARROW []
synonym: "non-syndromic ichthyosis" EXACT []
synonym: "xeroderma" EXACT []
synonym: "xerodermas" EXACT []
xref: MESH:D007057
xref: MIM:PS146590
xref: NCI:C84776
xref: ORDO:79354
is_a: DOID:161 ! keratosis
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:17
name: musculoskeletal system disease
def: "A disease of anatomical entity that occurs in the muscular and/or skeletal system. (DO)" [http://en.wikipedia.org/wiki/Human_musculoskeletal_system#Diseases_and_disorders "DO"]
subset: RGD_JBrowse_slim
synonym: "musculoskeletal disease" EXACT []
synonym: "musculoskeletal diseases" EXACT []
synonym: "orthopedic disorder" EXACT []
synonym: "orthopedic disorders" EXACT []
xref: EFO:0009676
xref: MESH:D009140
xref: NCI:C107377
is_a: DOID:7 ! disease of anatomical entity

[Term]
id: DOID:170
name: endocrine gland cancer
def: "An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. (DO)" [http://en.wikipedia.org/wiki/Endocrine_system "DO"]
synonym: "cancer of endocrine gland" EXACT []
synonym: "cancer of the endocrine gland" EXACT []
synonym: "endocrine neoplasm" EXACT [CSP2005:2009-5861]
synonym: "Endocrine tumor" EXACT [NCI2004_11_17:C3010]
synonym: "malignant Endocrine tumor" EXACT [NCI2004_11_17:C3575]
synonym: "malignant neoplasm of endocrine gland" EXACT []
synonym: "malignant tumour of endocrine gland" EXACT [SNOMEDCT_2005_07_31:93780007]
synonym: "neoplasm of endocrine gland" EXACT [SNOMEDCT_2005_07_31:127015005]
synonym: "neoplasm of endocrine system" EXACT [SNOMEDCT_2005_07_31:387927001]
xref: EFO:0003769
xref: ICD10CM:C75.9
xref: ICD9CM:194.9
xref: NCI:C3010
xref: NCI:C3575
xref: RDO:9003305
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:28 ! endocrine system disease
is_a: DOID:9007803 ! Endocrine Gland Neoplasms
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:1700
name: X-linked ichthyosis
alt_id: MIM:308100
def: "An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22. (DO)" [https://rarediseases.info.nih.gov/diseases/7904/disease "DO", https://www.omim.org/entry/308100 "DO"]
synonym: "Placental Steroid Sulfatase Deficiency" NARROW []
synonym: "sex-linked ichthyoses" EXACT []
synonym: "sex-linked ichthyosis" EXACT []
synonym: "SSDD ICHTHYOSIS, X-LINKED, COMPLICATED" NARROW []
synonym: "Steroid Sulfatase Deficiencies" EXACT []
synonym: "Steroid Sulfatase Deficiency" EXACT []
synonym: "steroid sulfatase deficiency disease" NARROW []
synonym: "STS deficiency" EXACT []
synonym: "XLI" EXACT []
synonym: "X-linked ichthyoses" EXACT []
synonym: "X-linked ichthyosis with steryl-sulphatase deficiency" NARROW []
synonym: "X-linked placental steryl-sulphatase deficiency" NARROW []
synonym: "X-linked recessive ichthyosis" EXACT []
xref: EFO:0009080
xref: GARD:7904
xref: ICD10CM:Q80.1
xref: MESH:D016114
xref: NCI:C84779
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:1697 ! ichthyosis
is_a: DOID:1701 ! steroid inherited metabolic disorder
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:1701
name: steroid inherited metabolic disorder
def: "A lipid metabolism disorder that involves defects in steroid metabolism. (DO)" [http://en.wikipedia.org/wiki/Inborn_error_of_steroid_metabolism "DO", http://www.genome.jp/dbget-bin/www_bget?pathway+hsa00140 "DO"]
synonym: "congenital errors of steroid metabolism" EXACT []
synonym: "Inborn Errors of Steroid Metabolism" EXACT []
synonym: "Steroid Metabolic Diseases, Inborn" EXACT []
synonym: "steroid metabolism, inborn errors" EXACT []
xref: EFO:0005590
xref: MESH:D043202
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:1702
name: ichthyosis vulgaris
alt_id: MIM:146700
def: "An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. (DO)" [https://www.mayoclinic.org/diseases-conditions/ichthyosis-vulgaris/symptoms-causes/syc-20373754 "DO"]
synonym: "autosomal dominant ichthyosis vulgaris" NARROW []
synonym: "dominant congenital ichthyosiform erythroderma" NARROW []
synonym: "dominant ichthyosis vulgaris" NARROW []
synonym: "FLG-RELATED CONDITION" BROAD []
synonym: "FLG-RELATED DISORDERS" BROAD []
synonym: "ichthyosis simplex" EXACT []
synonym: "ichthyosis simplices" EXACT []
xref: GARD:6752
xref: ICD10CM:Q80.0
xref: MESH:D016112
xref: NCI:C84778
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1697 ! ichthyosis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:1703
name: Richter's syndrome
def: "A rare complication of Chronic Lymphocytic Leukaemia (CLL) and/or Small Lymphocytic Lymphoma (SLL) characterised by the sudden transformation of the CLL/SLL into a significantly more aggressive form of large cell lymphoma.(Leukemia Foundation)" []
synonym: "Richter syndrome" EXACT []
xref: GARD:7578
xref: ICD10CM:C91.1
xref: NCI:C35424
is_a: DOID:1040 ! chronic lymphocytic leukemia
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:171
name: neuroectodermal tumor
def: "Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells." [MESH:D017599]
synonym: "neuroectodermal tumors" EXACT []
synonym: "primitive neuroectodermal neoplasm" EXACT []
xref: EFO:0005235
xref: MESH:D017599
is_a: DOID:3093 ! nervous system cancer
is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms
is_a: DOID:9002573 ! Nerve Tissue Neoplasms

[Term]
id: DOID:1712
name: aortic valve stenosis
def: "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening. (DO)" [http://en.wikipedia.org/wiki/Aortic_valve_stenosis "DO", https://rarediseases.info.nih.gov/diseases/5830/aortic-valve-stenosis "DO"]
synonym: "aortic stenoses" EXACT []
synonym: "aortic stenosis" EXACT []
synonym: "aortic valve stenoses" EXACT []
synonym: "AS" EXACT []
synonym: "rheumatic aortic stenosis" EXACT []
synonym: "rheumatic aortic valve stenosis" EXACT []
xref: EFO:0000266
xref: GARD:5830
xref: ICD10CM:I06.0
xref: ICD10CM:Q23.0
xref: ICD9CM:395.0
xref: ICD9CM:746.3
xref: MESH:D001024
xref: NCI:C50462
is_a: DOID:62 ! aortic valve disease
is_a: DOID:9004319 ! Ventricular Outflow Obstruction

[Term]
id: DOID:1713
name: benign shuddering attacks
xref: ICD10CM:G25.83
xref: ICD9CM:333.93
is_a: DOID:480 ! movement disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:172
name: clear cell acanthoma
synonym: "pale (clear cell) acanthoma" EXACT []
xref: ICDO:8084/0
xref: NCI:C97041
is_a: DOID:174 ! acanthoma
is_a: DOID:3165 ! skin benign neoplasm

[Term]
id: DOID:1724
name: duodenal ulcer
def: "A PEPTIC ULCER located in the DUODENUM." [MESH:D004381]
synonym: "Curling's ulcer" EXACT []
synonym: "Curling's ulcers" EXACT []
synonym: "Curlings ulcer" EXACT []
synonym: "Curling ulcer" EXACT []
synonym: "duodenal ulcers" EXACT []
synonym: "stress ulcer" EXACT []
xref: EFO:0004607
xref: ICD10CM:K26
xref: ICD9CM:532
xref: MESH:D004381
xref: MONDO:0005412
xref: NCI:C26755
is_a: DOID:750 ! peptic ulcer disease

[Term]
id: DOID:1725
name: peritoneum cancer
def: "An organ system cancer that is located in the peritoneum. (DO)" [http://en.wikipedia.org/wiki/Peritoneal_cancer "DO"]
synonym: "cancer of peritoneum" EXACT []
xref: ICD10CM:C48.1
xref: ICD9CM:158.8
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:9001834 ! Peritoneal Neoplasms
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:1726
name: partial of retinal vein occlusion
synonym: "Partial Retinal Vein Occlusion" EXACT [NCI2004_11_17:C35341]
xref: ICD10CM:H34.82
xref: NCI:C35341
xref: RDO:9002692
is_a: DOID:1727 ! retinal vein occlusion
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:1727
name: retinal vein occlusion
def: "Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES." [MESH:D012170]
synonym: "hemi-retinal vein occlusion" RELATED []
synonym: "occlusion of retinal vein" EXACT []
synonym: "retinal vein occlusions" EXACT []
synonym: "retinal vein thromboses" EXACT []
synonym: "retinal vein thrombosis" EXACT []
synonym: "RVO" EXACT []
synonym: "thrombosis of retinal vein" EXACT []
xref: EFO:1001157
xref: MESH:D012170
xref: NCI:C34981
is_a: DOID:1729 ! retinal vascular occlusion
is_a: DOID:8483 ! retinal artery occlusion
is_a: DOID:9003871 ! Venous Thrombosis

[Term]
id: DOID:1729
name: retinal vascular occlusion
synonym: "Retinal vasc. occlusion" EXACT []
xref: ICD10CM:H34
xref: ICD9CM:362.3
xref: NCI:C34980
is_a: DOID:2462 ! retinal vascular disease
is_a: DOID:341 ! peripheral vascular disease
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:173
name: eccrine sweat gland neoplasm
synonym: "eccrine skin neoplasm" EXACT []
synonym: "eccrine tumor" EXACT []
xref: NCI:C6796
is_a: DOID:2664 ! sweat gland benign neoplasm

[Term]
id: DOID:1731
name: histoplasmosis
def: "A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. (DO)" [http://www.cdc.gov/niosh/hi97146.html "DO"]
synonym: "histoplasmoses" EXACT []
xref: EFO:0007310
xref: ICD10CM:B39
xref: ICD9CM:115
xref: MESH:D006660
xref: NCI:C34977
xref: NCI:C77201
is_a: DOID:0050292 ! primary systemic mycosis

[Term]
id: DOID:1733
name: cryptosporidiosis
def: "A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. (DO)" [http://www.dpd.cdc.gov/DPDx/HTML/Cryptosporidiosis.htm "DO"]
synonym: "cryptosporidial gastroenteritis" EXACT []
synonym: "Cryptosporidioses" EXACT []
synonym: "infection by Cryptosporidium" EXACT []
synonym: "intestinal cryptosporidiosis" EXACT []
xref: GARD:6219
xref: ICD10CM:A07.2
xref: ICD9CM:007.4
xref: MESH:D003457
xref: NCI:C128408
is_a: DOID:2113 ! coccidiosis
is_a: DOID:9002892 ! Parasitic Intestinal Diseases
is_a: DOID:9004157 ! Protozoan Infections, Animal

[Term]
id: DOID:1737
name: duodenal benign neoplasm
synonym: "neoplasm of duodenum" EXACT []
synonym: "neoplasm of the duodenum" EXACT []
xref: EFO:1000907
xref: NCI:C2995
is_a: DOID:7505 ! small intestine benign neoplasm
is_a: DOID:9000256 ! Duodenal Neoplasms
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:1738
name: small intestine leiomyoma
def: "A small intestine benign neoplasm that is located_in the small intestine. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1869141/ "DO"]
synonym: "leiomyoma, small bowel" EXACT []
xref: NCI:C7725
is_a: DOID:127 ! leiomyoma
is_a: DOID:7505 ! small intestine benign neoplasm
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:174
name: acanthoma
def: "A neoplasm composed of squamous or epidermal cells." []
synonym: "Acanthomas" EXACT []
synonym: "Clear Cell Acanthoma" EXACT []
synonym: "Clear Cell Acanthomas" EXACT []
synonym: "Degos Acanthoma" EXACT []
xref: GARD:8604
xref: MESH:D049309
xref: NCI:C7419
is_a: DOID:3168 ! squamous cell neoplasm
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:1742
name: drug psychosis
synonym: "Drug-induced psychosis" EXACT []
synonym: "Drug-induced psychotic disorder" EXACT []
synonym: "methamphetamine-induced psychosis" NARROW []
xref: EFO:0005242
xref: EFO:1000902
xref: ICD9CM:292.1
is_a: DOID:1203 ! drug-induced mental disorder
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:1748
name: conjunctival squamous cell carcinoma
def: "A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19883851 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27584160 "DO"]
synonym: "conjunctival epidermoid carcinoma" EXACT []
synonym: "invasive squamous cell carcinoma of the conjunctiva" EXACT []
synonym: "ocular surface squamous neoplasia" EXACT []
synonym: "squamous cell carcinoma of conjunctiva" EXACT []
xref: EFO:1000206
xref: NCI:C4549
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:5467 ! conjunctival cancer
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:1749
name: squamous cell carcinoma
alt_id: OMIA:001787
def: "A carcinoma that derives_from squamous epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Squamous_cell_carcinoma "DO"]
synonym: "Epidermoid Carcinoma" EXACT []
synonym: "epidermoid carcinomas" EXACT []
synonym: "malignant squamous cell tumor" EXACT []
synonym: "Planocellular Carcinoma" EXACT []
synonym: "Planocellular Carcinomas" EXACT []
synonym: "Squamous Carcinoma" EXACT []
synonym: "Squamous Carcinomas" EXACT []
synonym: "squamous cell cancer" EXACT []
synonym: "SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC" NARROW []
synonym: "Squamous cell carcinoma of the digit" NARROW []
synonym: "squamous cell carcinomas" EXACT []
synonym: "squamous cell epithelioma" EXACT []
synonym: "Tonsillar Squamous Cell Carcinoma" NARROW []
xref: EFO:0000707
xref: EFO:1000597
xref: GARD:1091
xref: ICDO:8070/3
xref: MESH:D002294
xref: NCI:C21609
xref: NCI:C2929
xref: NCI:C60511
is_a: DOID:305 ! carcinoma
is_a: DOID:3168 ! squamous cell neoplasm

[Term]
id: DOID:175
name: vascular cancer
def: "A cardiovascular cancer that is located_in blood vessels. (DO)" [http://en.wikipedia.org/wiki/Vascular "DO"]
synonym: "leiomyosarcoma of the renal vein" EXACT []
synonym: "malignant great vessel tumor" EXACT []
synonym: "malignant tumor of pulmonary artery" NARROW []
synonym: "malignant tumor of pulmonary vein" NARROW []
synonym: "malignant vascular neoplasm" EXACT []
synonym: "malignant vascular tumor" EXACT []
synonym: "pulmonary artery malignant neoplasm" EXACT []
synonym: "pulmonary vein malignant neoplasm" EXACT []
synonym: "renal vein leiomyosarcoma" EXACT []
xref: NCI:C5348
xref: NCI:C5380
xref: NCI:C5383
xref: NCI:C5388
xref: NCI:C7388
xref: NCI:C7390
is_a: DOID:176 ! cardiovascular cancer
is_a: DOID:9006948 ! Vascular Tissue Neoplasms

[Term]
id: DOID:1751
name: malignant conjunctival melanoma
synonym: "conjunctival melanoma" EXACT []
synonym: "malignant melanoma of conjunctiva" EXACT []
xref: EFO:1000204
xref: NCI:C4550
is_a: DOID:5467 ! conjunctival cancer

[Term]
id: DOID:1752
name: ocular melanoma
def: "An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. (DO)" [http://www.cancer.gov/dictionary?CdrID=269467 "DO"]
synonym: "eye melanoma" EXACT []
synonym: "intraocular melanoma" EXACT []
synonym: "melanoma of eye" EXACT []
synonym: "Ocular Melanoma with Extraocular Extension" NARROW []
xref: EFO:1000403
xref: EFO:1000404
xref: GARD:7236
xref: GARD:8621
xref: NCI:C8562
is_a: DOID:1909 ! melanoma
is_a: DOID:2174 ! ocular cancer
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:1754
name: mitral valve stenosis
def: "A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. (DO)" [http://en.wikipedia.org/wiki/Mitral_valve_stenosis "DO"]
synonym: "mitral stenoses" EXACT []
synonym: "mitral stenosis" EXACT []
synonym: "mitral valve stenoses" EXACT []
xref: EFO:0007372
xref: MESH:D008946
xref: NCI:C50654
is_a: DOID:61 ! mitral valve disease

[Term]
id: DOID:1756
name: facial nerve disease
def: "A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve. (DO)" [https://ent.uci.edu/more-at-uc-irvine/conditions/facial-nerve-disorders.asp "DO", MESH:D005155]
synonym: "acquired facial neuropathies" EXACT []
synonym: "Acquired Facial Neuropathy" EXACT []
synonym: "cranial nerve VII diseases" EXACT []
synonym: "cranial nerve VII disorders" EXACT []
synonym: "Facial Myokymia" EXACT []
synonym: "Facial Myokymias" EXACT []
synonym: "facial nerve diseases" EXACT []
synonym: "Facial Nerve Disorder" EXACT []
synonym: "Facial Nerve Disorders" EXACT []
synonym: "Facial Nerve Motor Disorders" EXACT []
synonym: "Facial Nerve Sensory Disorders" EXACT []
synonym: "Facial Neuritides" EXACT []
synonym: "Facial Neuritis" EXACT []
synonym: "Facial Neuropathies" EXACT []
synonym: "Facial Neuropathy" EXACT []
synonym: "familial facial neuropathies" EXACT []
synonym: "familial facial neuropathy" EXACT []
synonym: "seventh cranial nerve diseases" EXACT []
xref: EFO:1002051
xref: ICD10CM:G51
xref: ICD9CM:351
xref: MESH:D005155
xref: NCI:C27594
is_a: DOID:403 ! mouth disease
is_a: DOID:5656 ! cranial nerve disease

[Term]
id: DOID:1757
name: facial hemiatrophy
alt_id: MIM:141300
def: "A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. The condition typically progresses over a period of 2-10 years and then stabilizes." [MESH:D005150]
synonym: "facial hemiatrophies" EXACT []
synonym: "Facial Hemiatrophy of Romberg" EXACT []
synonym: "hemifacial atrophies" EXACT []
synonym: "Hemifacial Atrophy" EXACT []
synonym: "Parry Romberg Disease" EXACT []
synonym: "Parry Romberg Syndrome" EXACT []
synonym: "Progressive Facial Hemiatrophies" EXACT []
synonym: "Progressive Facial Hemiatrophy" EXACT []
synonym: "Progressive Hemifacial Atrophies" EXACT []
synonym: "Progressive Hemifacial Atrophy" EXACT []
synonym: "Romberg's disease" EXACT []
synonym: "Romberg Disease" EXACT []
synonym: "Romberg Facial Hemiatrophy" EXACT []
synonym: "Romberg Hemi Facial Atrophy" EXACT []
synonym: "Rombergs disease" EXACT []
xref: MESH:D005150
xref: NCI:C116916
xref: NCI:C84703
is_a: DOID:1756 ! facial nerve disease
is_a: DOID:225 ! syndrome
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:1759
name: American histoplasmosis
def: "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/16940867 "DO"]
xref: ICD10CM:B39.4
xref: ICD9CM:115.0
xref: RDO:9002329
is_a: DOID:1731 ! histoplasmosis
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:176
name: cardiovascular cancer
def: "An organ system cancer that located_in the heart and blood vessels. (DO)" [http://www.cancer.gov/dictionary?CdrID=44005 "DO", https://www.ncbi.nlm.nih.gov/books/NBK537144/ "DO"]
synonym: "cardiovascular neoplasm" EXACT [CSP2005:2007-0683]
synonym: "cardiovascular tumors" EXACT [NCI2004_11_17:C4784]
xref: NCI:C4784
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:1287 ! cardiovascular system disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:1760
name: facial nerve neoplasm
synonym: "neoplasm of facial nerve" EXACT []
synonym: "tumor of facial nerve" EXACT []
xref: NCI:C5827
is_a: DOID:3417 ! glossopharyngeal nerve neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:1761
name: Melkersson-Rosenthal syndrome
alt_id: MIM:155900
def: "An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)" [MESH:D008556]
synonym: "Cheilitis Granulomatosa" EXACT []
synonym: "Cheilitis Granulomatosa, Facial Neuropathy, Orofacial Edema" EXACT []
synonym: "cheilitis granulomatosa of Mescher-Melkersson-Rosenthal" EXACT []
synonym: "Granulomatous Cheilitis" EXACT []
synonym: "Macrocheilia, Facial Palsy, Edema" EXACT []
synonym: "Melkerson Rosenthal Syndrome" EXACT []
synonym: "Melkersson's syndrome" EXACT []
synonym: "Melkersson Rosenthal Miescher Syndrome" EXACT []
synonym: "Melkersson Syndrome" EXACT []
synonym: "Miescher Melkersson Rosenthal Granulomatous Cheilitis" EXACT []
synonym: "MROS" EXACT []
synonym: "MRS" EXACT []
xref: EFO:1001039
xref: GARD:7010
xref: ICD10CM:G51.2
xref: MESH:D008556
xref: NCI:C84886
is_a: DOID:1555 ! urticaria
is_a: DOID:1756 ! facial nerve disease
is_a: DOID:1762 ! cheilitis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:1762
name: cheilitis
def: "A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. (DO)" [http://en.wikipedia.org/wiki/Cheilitis "DO"]
synonym: "cheilitides" EXACT []
xref: MESH:D002613
xref: NCI:C79545
is_a: DOID:9297 ! lip disease

[Term]
id: DOID:1766
name: factitious disorder
alt_id: MESH:D009110
def: "A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. (DO)" [http://en.wikipedia.org/wiki/Factitious_disorder "DO", http://my.clevelandclinic.org/disorders/factitious_disorders/hic_an_overview_of_factitious_disorders.aspx "DO"]
synonym: "factitious disorders" EXACT []
synonym: "Hospital Addiction Syndrome" EXACT []
synonym: "hospital-addiction syndromes" EXACT []
synonym: "Munchausen syndrome" EXACT []
synonym: "Munchhausen Syndrome" EXACT []
synonym: "pseudodementia" EXACT []
synonym: "pseudopsychosis" EXACT []
xref: ICD9CM:300.16
xref: MESH:D005162
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:1768
name: conversion disorder
def: "A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause. (DO)" [http://en.wikipedia.org/wiki/Conversion_disorder "DO"]
synonym: "astasia abasia" EXACT []
synonym: "conversion disorders" EXACT []
synonym: "Conversion Hysteria" EXACT []
synonym: "conversion hysteria or reaction" EXACT []
synonym: "Conversion Hysterias" EXACT []
synonym: "Conversion Hysterical Neurosis" EXACT []
synonym: "Conversion Reaction" EXACT []
synonym: "Conversion Reactions" EXACT []
synonym: "globus hystericus" EXACT []
synonym: "hysterical neurosis, conversion type" EXACT []
xref: GARD:6191
xref: ICD10CM:F44
xref: ICD9CM:300.11
xref: MESH:D003291
is_a: DOID:4737 ! somatoform disorder

[Term]
id: DOID:1770
name: toxic megacolon
def: "An acute form of MEGACOLON, severe pathological dilatation of the COLON. It is associated with clinical conditions such as ULCERATIVE COLITIS; CROHN DISEASE; AMEBIC DYSENTERY; or CLOSTRIDIUM ENTEROCOLITIS." [MESH:D008532]
xref: ICD10CM:K59.31
xref: MESH:D008532
is_a: DOID:11372 ! megacolon

[Term]
id: DOID:1776
name: labyrinthine unilateral reactive loss
synonym: "unilateral loss of labyrinthine reactivity" EXACT []
xref: ICD9CM:386.55
is_a: DOID:566 ! labyrinthine dysfunction
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:1777
name: unilateral hyperactive labyrinth
synonym: "hyperactive unilateral labyrinthine dysfunction" EXACT []
xref: ICD9CM:386.51
is_a: DOID:566 ! labyrinthine dysfunction
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:178
name: vascular disease
def: "A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. (DO)" [http://en.wikipedia.org/wiki/Vascular_disease "DO"]
synonym: "ocular vascular disease" NARROW []
synonym: "vascular diseases" EXACT []
synonym: "vascular tissue disease" EXACT []
xref: EFO:0004264
xref: EFO:0005753
xref: ICD10CM:I72.9
xref: ICD9CM:442.9
xref: MESH:D014652
xref: NCI:C26693
xref: NCI:C35117
is_a: DOID:1287 ! cardiovascular system disease

[Term]
id: DOID:1781
name: thyroid cancer
def: "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage. (DO)" [http://en.wikipedia.org/wiki/Thyroid_gland "DO", https://pubmed.ncbi.nlm.nih.gov/35288841/ "DO"]
synonym: "cancer of the thyroid" EXACT []
synonym: "cancer of thyroid" EXACT []
synonym: "malignant neoplasm of thyroid gland" EXACT []
synonym: "malignant tumour of thyroid gland" EXACT []
synonym: "thyroid cancers" EXACT []
synonym: "thyroid gland cancer" EXACT []
xref: ICD10CM:C73
xref: ICD9CM:193
xref: NCI:C3414
xref: NCI:C7510
is_a: DOID:170 ! endocrine gland cancer
is_a: DOID:9004547 ! Thyroid Neoplasms
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:1785
name: pituitary cancer
def: "An endocrine gland cancer located_in the pituitary gland located at the base of the brain. (DO)" [http://en.wikipedia.org/wiki/Pituitary_gland "DO"]
synonym: "cancer of pituitary" EXACT []
synonym: "cancer of the pituitary" EXACT []
synonym: "malignant pituitary neoplasm" EXACT []
synonym: "malignant tumor of pituitary gland" EXACT []
synonym: "pituitary cancers" EXACT []
synonym: "pituitary gland cancer" EXACT []
xref: EFO:0005578
xref: GARD:9371
xref: ICD10CM:C75.1
xref: NCI:C3330
xref: NCI:C4769
is_a: DOID:170 ! endocrine gland cancer
is_a: DOID:9002234 ! Pituitary Neoplasms
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:1786
name: adrenal rest tumor
def: "Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." [MESH:D000314]
synonym: "adrenal cortical rest tumor" EXACT []
synonym: "adrenal rest neoplasm" EXACT []
synonym: "adrenal rest tumors" EXACT []
xref: EFO:1000798
xref: ICDO:8671/0
xref: MESH:D000314
xref: NCI:C2860
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:657 ! adenoma

[Term]
id: DOID:1787
name: pericarditis
def: "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. (DO)" [http://en.wikipedia.org/wiki/Pericarditis "DO"]
synonym: "pleuropericarditis" EXACT []
xref: EFO:0007427
xref: MESH:D010493
xref: NCI:C34915
is_a: DOID:0050829 ! pericardium disease

[Term]
id: DOID:1788
name: peritoneal mesothelioma
def: "A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. (DO)" [http://en.wikipedia.org/wiki/Mesothelioma "DO"]
synonym: "advanced malignant mesothelioma of peritoneum" EXACT []
synonym: "advanced malignant peritoneal mesothelioma" EXACT []
synonym: "malignant mesothelioma of peritoneum" EXACT []
synonym: "MALIGNANT PERITONEAL MESOTHELIOMA" EXACT []
synonym: "Peritoneal Multicystic Mesothelioma" NARROW []
synonym: "Peritoneal Well Differentiated Papillary Mesothelioma" NARROW []
xref: EFO:0005567
xref: EFO:1000467
xref: EFO:1000468
xref: EFO:1000469
xref: ICD10CM:C45.1
xref: NCI:C8704
xref: NCI:C9350
is_a: DOID:1725 ! peritoneum cancer
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:9003566 ! Mesothelioma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:1789
name: benign peritoneal mesothelioma
synonym: "mesothelioma of peritoneum" EXACT []
xref: NCI:C7633
is_a: DOID:0060117 ! peritoneal benign neoplasm
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:1790
name: malignant mesothelioma
def: "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. (DO)" [http://cancergenome.nih.gov/cancersselected/Mesothelioma "DO", http://www.cancer.gov/dictionary?CdrID=44323 "DO", http://www.merriam-webster.com/medlineplus/mesothelioma "DO", https://en.wikipedia.org/wiki/Mesothelioma "DO"]
synonym: "advanced malignant mesothelioma" EXACT []
synonym: "asbestos-related malignant mesothelioma" EXACT []
synonym: "diffuse malignant mesothelioma" EXACT []
synonym: "malignant tumor of mesothelium" EXACT []
synonym: "MESOM" EXACT []
synonym: "somatic mesothelioma" EXACT []
xref: EFO:1000355
xref: MESH:D000086002
xref: MIM:156240
xref: MONDO:0006292
xref: NCI:C27926
xref: NCI:C4456
xref: NCI:C60453
xref: NCI:C7865
xref: NCI:C8420
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:9003566 ! Mesothelioma
is_a: DOID:9005172 ! Lung Neoplasms

[Term]
id: DOID:1791
name: peritoneal carcinoma
def: "A peritoneum cancer that is located_in the inside of the abdomen. (DO)" [https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/peritoneal-cancer.html "DO"]
synonym: "primary peritoneal carcinoma" EXACT []
xref: NCI:C40022
xref: ORDO:168829
is_a: DOID:1725 ! peritoneum cancer
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:1792
name: pancreas lymphoma
synonym: "lymphoma of pancreas" EXACT []
synonym: "pancreatic lymphoma" EXACT []
xref: NCI:C5714
is_a: DOID:0060058 ! lymphoma
is_a: DOID:1793 ! pancreatic cancer
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:1793
name: pancreatic cancer
alt_id: MIM:260350
alt_id: MIM:606856
alt_id: MIM:613347
alt_id: MIM:613348
alt_id: MIM:614320
alt_id: MIM:618680
def: "An endocrine gland cancer located_in the pancreas. (DO)" [http://en.wikipedia.org/wiki/Pancreatic "DO"]
synonym: "Ca body of pancreas" NARROW []
synonym: "Ca head of pancreas" NARROW []
synonym: "cancer of pancreas" EXACT []
synonym: "cancer of the pancreas" EXACT []
synonym: "Ca tail of pancreas" NARROW []
synonym: "malignant neoplasm of body of pancreas" EXACT []
synonym: "malignant neoplasm of head of pancreas" EXACT []
synonym: "malignant neoplasm of tail of pancreas" EXACT []
synonym: "PALLD-RELATED CONDITION" NARROW []
synonym: "pancreas cancer" EXACT []
synonym: "pancreas cancers" EXACT []
synonym: "pancreatic cancer 3" EXACT []
synonym: "pancreatic cancers" EXACT []
synonym: "pancreatic cancer, susceptibility to, 1" RELATED []
synonym: "pancreatic cancer, susceptibility to, 2" RELATED []
synonym: "pancreatic cancer, susceptibility to, 3" RELATED []
synonym: "pancreatic cancer, susceptibility to, 4" RELATED []
synonym: "pancreatic cancer, susceptibility to, 5" RELATED []
synonym: "pancreatic tumor" EXACT []
synonym: "PNCA1" RELATED []
synonym: "PNCA2" RELATED []
synonym: "PNCA3" RELATED []
synonym: "PNCA4" RELATED []
synonym: "PNCA5" RELATED []
xref: EFO:0003860
xref: EFO:1000359
xref: GARD:9364
xref: ICD10CM:C25.0
xref: ICD10CM:C25.1
xref: ICD10CM:C25.2
xref: ICD9CM:157.0
xref: ICD9CM:157.1
xref: ICD9CM:157.2
xref: ICD9CM:157.8
xref: MESH:D010190
xref: NCI:C3305
xref: ORDO:1333
xref: ORDO:217074
is_a: DOID:170 ! endocrine gland cancer
is_a: DOID:9003100 ! Pancreatic Neoplasms

[Term]
id: DOID:1795
name: malignant exocrine pancreas neoplasm
def: "A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7430 "DO"]
synonym: "malignant neoplasm of the exocrine pancreas" EXACT []
synonym: "malignant tumor of exocrine pancreas" EXACT []
synonym: "malignant tumour of exocrine pancreas" EXACT []
synonym: "pancreatic exocrine tumor" EXACT []
synonym: "pancreatic exocrine tumour" EXACT []
synonym: "tumor of exocrine pancreas" EXACT []
synonym: "tumour of exocrine pancreas" EXACT []
xref: NCI:C4445
xref: NCI:C7430
is_a: DOID:1793 ! pancreatic cancer
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:1796
name: pancreas sarcoma
def: "A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin. (DO)" [https://brief.land/rro/articles/5126.html "DO"]
synonym: "sarcoma of pancreas" EXACT []
xref: NCI:C5715
is_a: DOID:1115 ! sarcoma
is_a: DOID:1793 ! pancreatic cancer
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:1798
name: pancreatic endocrine carcinoma
def: "An islet cell tumor that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "carcinoma of endocrine pancreas" EXACT []
synonym: "Islet Cell Carcinoma" EXACT []
synonym: "islet cell carcinomas" EXACT []
synonym: "Islet Cell Tumor, Malignant" EXACT []
synonym: "malignant neoplasm of islets of Langerhans" EXACT []
synonym: "METASTATIC PANCREATIC NEUROENDOCRINE TUMORS" NARROW []
synonym: "neuroendocrine tumor of pancreas" NARROW []
synonym: "pancreatic neuroendocrine carcinoma" EXACT []
xref: EFO:0007416
xref: EFO:0009140
xref: GARD:13034
xref: ICD9CM:157.4
xref: MESH:D018273
xref: NCI:C3770
is_a: DOID:1793 ! pancreatic cancer
is_a: DOID:1799 ! islet cell tumor
is_a: DOID:299 ! adenocarcinoma

[Term]
id: DOID:1799
name: islet cell tumor
def: "A pancreatic cancer that is located_in the pancreatic islet cells. (DO)" [http://en.wikipedia.org/wiki/Islets_of_Langerhans "DO", http://en.wikipedia.org/wiki/Neuroendocrine_tumor "DO"]
synonym: "endocrine pancreas cancer" EXACT []
synonym: "islet cell neoplasm" EXACT []
synonym: "islet cell tumour" EXACT []
synonym: "islet of Langerhans tumor" EXACT []
synonym: "malignant pancreatic endocrine tumor" EXACT []
synonym: "malignant pancreatic endocrine tumour" EXACT []
synonym: "malignant tumor of endocrine pancreas" EXACT []
synonym: "malignant tumour of endocrine pancreas" EXACT []
synonym: "metastatic islet cell carcinoma" EXACT []
synonym: "pancreatic endocrine neoplasm" EXACT []
synonym: "pancreatic islet cell tumors" EXACT []
synonym: "pancreatic neuroendocrine tumor" EXACT []
synonym: "PanNET" EXACT []
xref: EFO:0007331
xref: EFO:1000045
xref: ICD10CM:C25.4
xref: ICD10CM:D13.7
xref: NCI:C27031
xref: NCI:C27720
xref: NCI:C34050
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:1793 ! pancreatic cancer
is_a: DOID:9003100 ! Pancreatic Neoplasms
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:18
name: urinary system disease
def: "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. (DO)" [http://en.wikipedia.org/wiki/Urinary_system "DO"]
synonym: "ABNORMALITY OF THE URINARY SYSTEM" EXACT []
synonym: "non-neoplastic urinary tract disease" EXACT []
synonym: "urinary tract disease" EXACT []
synonym: "urinary tract diseases" EXACT []
synonym: "urological disease" EXACT []
synonym: "urological diseases" EXACT []
synonym: "urologic disease" EXACT []
synonym: "urologic diseases" EXACT []
xref: EFO:0009690
xref: MESH:D014570
xref: NCI:C27599
is_a: DOID:9009146 ! Urogenital Diseases
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:180
name: ossifying fibroma
def: "A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. (DO)" [http://en.wikipedia.org/wiki/Ossifying_fibroma "DO"]
synonym: "fibro-osteoma" EXACT []
synonym: "OSSIFYING FIBROMA OF THE JAW" EXACT []
synonym: "Ossifying Fibromas" EXACT []
synonym: "peripheral ossifying fibroma" RELATED []
xref: EFO:0007412
xref: ICDO:9262/0
xref: MESH:D018214
xref: NCI:C8422
is_a: DOID:0050871 ! fibroma
is_a: DOID:0060094 ! bone benign neoplasm
is_a: DOID:9007603 ! Bone Tissue Neoplasms

[Term]
id: DOID:1800
name: neuroendocrine carcinoma
def: "A carcinoma that derives_from neuroendocrine cells. (DO)" [https://www.mayoclinic.org/diseases-conditions/neuroendocrine-tumors/symptoms-causes/syc-20354132 "DO"]
synonym: "neuroendocrine carcinomas" EXACT []
synonym: "Pancreatic Small Cell Neuroendocrine Carcinoma" NARROW []
xref: EFO:1000200
xref: EFO:1000444
xref: ICDO:8246/3
xref: MESH:D018278
xref: NCI:C3773
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:1802
name: mononeuritis
synonym: "mononeuritides" EXACT []
xref: ICD9CM:355.9
is_a: DOID:1188 ! mononeuropathy
is_a: DOID:1803 ! neuritis
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:1803
name: neuritis
alt_id: RDO:0006205
def: "A general term indicating inflammation of a peripheral or cranial nerve. Clinical manifestation may include PAIN; PARESTHESIAS; PARESIS; or HYPESTHESIA." [MESH:D009443]
synonym: "neuritides" EXACT []
synonym: "Peripheral Neuritides" EXACT []
synonym: "Peripheral Neuritis" EXACT []
synonym: "Polyneuritides" EXACT []
synonym: "Polyneuritis" EXACT []
synonym: "Sensory Neuritides" EXACT []
synonym: "sensory neuritis" EXACT []
xref: MESH:D009443
xref: NCI:C116381
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:870 ! neuropathy
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:1811
name: reflex sympathetic dystrophy
alt_id: MIM:604335
alt_id: RDO:0006467
def: "A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)" [MESH:D012019]
synonym: "algodystrophic syndrome" EXACT []
synonym: "Algodystrophies" EXACT []
synonym: "Algodystrophy" EXACT []
synonym: "Cervical Sympathetic Dystrophies" EXACT []
synonym: "Cervical Sympathetic Dystrophy" EXACT []
synonym: "CPRS Type I" EXACT []
synonym: "CPRS Type Is" EXACT []
synonym: "Reflex Sympathetic Dystrophies" EXACT []
synonym: "Reflex Sympathetic Dystrophy Syndrome" EXACT []
synonym: "RSD (Reflex Sympathetic Dystrophy)" EXACT []
synonym: "RSDs (Reflex Sympathetic Dystrophy)" EXACT []
synonym: "Shoulder Hand Syndrome" EXACT []
synonym: "Shoulder-Hand Syndromes" EXACT []
synonym: "Sudek's Atrophies" EXACT []
synonym: "Sudek's Atrophy" EXACT []
synonym: "Sudek Atrophy" EXACT []
synonym: "Sudeks Atrophy" EXACT []
synonym: "Sympathetic Reflex Dystrophia" EXACT []
synonym: "Sympathetic Reflex Dystrophias" EXACT []
synonym: "type I complex regional pain syndrome" EXACT []
xref: EFO:1001147
xref: ICD10CM:G90.5
xref: ICD9CM:337.2
xref: MESH:D012019
xref: NCI:C85042
is_a: DOID:3223 ! complex regional pain syndrome

[Term]
id: DOID:182
name: calcinosis
def: "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. (DO)" [http://en.wikipedia.org/wiki/Calcinosis "DO"]
synonym: "calcinoses" EXACT []
synonym: "Microcalcification" EXACT []
synonym: "Microcalcifications" EXACT []
synonym: "Microcalcinoses" EXACT []
synonym: "Microcalcinosis" EXACT []
synonym: "pathologically calcified structure" EXACT []
synonym: "Pathologic Calcification" EXACT []
synonym: "Tumoral Calcinoses" EXACT []
synonym: "tumoral calcinosis" EXACT []
xref: EFO:0003837
xref: MESH:D002114
xref: NCI:C3672
is_a: DOID:10575 ! calcium metabolism disease

[Term]
id: DOID:1822
name: secondary lacrimal atrophy
xref: ICD10CM:H04.15
xref: ICD9CM:375.14
is_a: DOID:1400 ! lacrimal apparatus disease
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:1824
name: status epilepticus
def: "A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)" [MESH:D013226]
synonym: "absence status" EXACT []
synonym: "Complex Partial Status Epilepticus" EXACT []
synonym: "Electrographic Status Epilepticus" EXACT []
synonym: "Generalized Convulsive Status Epilepticus" EXACT []
synonym: "Generalized Status Epilepticus" EXACT []
synonym: "grand mal status" EXACT []
synonym: "Grand Mal Status Epilepticus" EXACT []
synonym: "Non Convulsive Status Epilepticus" EXACT []
synonym: "Petit Mal Status" EXACT []
synonym: "Simple Partial Status Epilepticus" EXACT []
synonym: "subclinical status epilepticus" EXACT []
xref: EFO:0008526
xref: GARD:10191
xref: MESH:D013226
xref: NCI:C85079
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:1825
name: childhood absence epilepsy
alt_id: MESH:C567002
def: "A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. (DO)" [http://en.wikipedia.org/wiki/Childhood_absence_epilepsy "DO"]
synonym: "akinetic petit mal" EXACT []
synonym: "Atonic Absence Seizure" EXACT []
synonym: "atonic absence seizures" EXACT []
synonym: "atypical absence epilepsy" EXACT []
synonym: "CACNA1H-RELATED DISORDER" BROAD []
synonym: "childhood absence epilepsies" EXACT []
synonym: "Epilepsy, Childhood Absence, Susceptibility To, 4" RELATED []
synonym: "minor epilepsies" EXACT []
synonym: "Minor Epilepsy" EXACT []
synonym: "petit mal convulsion" EXACT []
synonym: "petit mal epilepsies" EXACT []
synonym: "petit mal epilepsy" EXACT []
synonym: "petit mal seizure" EXACT []
synonym: "pykno-epilepsies" EXACT []
synonym: "pykno epilepsy" EXACT []
synonym: "pyknolepsies" EXACT []
synonym: "pyknolepsy" EXACT []
xref: MESH:D004832
xref: MIM:PS600131
xref: MONDO:0010826
xref: NCI:C128189
xref: NCI:C3023
is_a: DOID:0050704 ! childhood electroclinical syndrome
is_a: DOID:9001793 ! Generalized Epilepsy

[Term]
id: DOID:1826
name: epilepsy
alt_id: MESH:D000080485
alt_id: OMIA:001596
def: "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. (DO)" [http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false "DO", http://www.merriam-webster.com/medlineplus/epilepsy "DO"]
synonym: "aura" EXACT []
synonym: "auras" EXACT []
synonym: "awakening epilepsy" EXACT []
synonym: "benign familial juvenile epilepsy" NARROW []
synonym: "CHILDHOOD-ONSET EPILEPSY SYNDROME" NARROW []
synonym: "convulsions" EXACT []
synonym: "cryptogenic epilepsies" EXACT []
synonym: "cryptogenic epilepsy" EXACT []
synonym: "epilepsies" EXACT []
synonym: "EPILEPSY, MITOCHONDRIAL" NARROW []
synonym: "epilepsy syndrome" EXACT []
synonym: "epileptic seizure" EXACT []
synonym: "epileptic seizures" EXACT []
synonym: "epileptic syndrome" EXACT []
synonym: "INFANTILE EPILEPSY" NARROW []
synonym: "INTRACTABLE SEIZURE" NARROW []
synonym: "RARE EPILEPSY" NARROW []
synonym: "rare genetic epilepsy" NARROW []
synonym: "seizure" EXACT []
synonym: "seizure disorder" EXACT []
synonym: "seizure disorders" EXACT []
synonym: "seizures" EXACT []
synonym: "single seizure" EXACT []
synonym: "single seizures" EXACT []
synonym: "sudden unexpected death in epilepsy" RELATED []
xref: EFO:0000474
xref: EFO:0009854
xref: ICD10CM:G40
xref: ICD9CM:345.9
xref: MESH:D004827
xref: MIM:PS617290
xref: NCI:C3020
is_a: DOID:936 ! brain disease

[Term]
id: DOID:1827
name: idiopathic generalized epilepsy
alt_id: MIM:600669
def: "An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. (DO)" [http://en.wikipedia.org/wiki/Epilepsy "DO", http://en.wikipedia.org/wiki/Generalized_epilepsy "DO"]
synonym: "EIG" EXACT []
synonym: "EIG1" NARROW []
synonym: "EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10" EXACT []
synonym: "generalised epilepsy" EXACT []
synonym: "idiopathic generalized epilepsy, susceptibility to, 1" RELATED []
synonym: "IGE EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1" RELATED []
xref: EFO:0005917
xref: MESH:C562694
xref: MIM:PS600669
xref: NCI:C3021
is_a: DOID:9001793 ! Generalized Epilepsy

[Term]
id: DOID:1829
name: urethral stricture
def: "Narrowing of any part of the URETHRA. It is characterized by decreased urinary stream and often other obstructive voiding symptoms." [MESH:D014525]
synonym: "Anterior Urethral Stricture" EXACT []
synonym: "anterior urethral strictures" EXACT []
synonym: "Posterior Urethral Stricture" EXACT []
synonym: "posterior urethral strictures" EXACT []
synonym: "Urethral Stenoses" EXACT []
synonym: "urethral stenosis" EXACT []
synonym: "urethral strictures" EXACT []
xref: ICD9CM:598.8
xref: MESH:D014525
xref: MONDO:0002127
is_a: DOID:12577 ! urethral obstruction

[Term]
id: DOID:1835
name: mononeuritis multiplex
synonym: "mononeuropathy multiplex" EXACT []
synonym: "multifocal neuropathy" EXACT []
xref: GARD:7056
xref: ICD10CM:G58.7
xref: ICD9CM:354.5
xref: NCI:C70938
is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:1837
name: diabetic ketoacidosis
alt_id: MIM:612227
def: "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus. (DO)" [https://medlineplus.gov/ency/article/000320.htm "DO", https://www.mayoclinic.org/diseases-conditions/diabetic-ketoacidosis/symptoms-causes/syc-20371551 "DO"]
synonym: "DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO" RELATED []
synonym: "diabetic acidoses" EXACT []
synonym: "Diabetic Acidosis" EXACT []
synonym: "diabetic ketoacidoses" EXACT []
synonym: "diabetic ketoses" EXACT []
synonym: "diabetic ketosis" EXACT []
synonym: "ketosis-prone diabetes mellitus" EXACT []
synonym: "KPD" EXACT []
xref: EFO:1000897
xref: ICD9CM:250.1
xref: MESH:D016883
xref: NCI:C50530
is_a: DOID:0050758 ! metabolic acidosis
is_a: DOID:9002661 ! Diabetes Complications
is_a: DOID:9006253 ! Ketosis

[Term]
id: DOID:1838
name: Menkes disease
alt_id: MIM:309400
alt_id: OMIA:000640
def: "An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)" [MESH:D007706]
synonym: "congenital hypocupremia" EXACT []
synonym: "congenital hypocupremias" EXACT []
synonym: "copper transport disease" EXACT []
synonym: "kinky hair disease" EXACT []
synonym: "kinky hair diseases" EXACT []
synonym: "Kinky Hair Syndrome" EXACT []
synonym: "Menkes' diseases" EXACT []
synonym: "MENKES DISEASE, COPPER-REPLACEMENT RESPONSIVE" NARROW []
synonym: "MENKES DISEASE, MILD" NARROW []
synonym: "Menkes kinky hair syndrome" EXACT []
synonym: "Menkes syndrome" EXACT []
synonym: "MK" EXACT []
synonym: "MNK" EXACT []
synonym: "steely hair disease" EXACT []
synonym: "steely hair diseases" EXACT []
synonym: "steely hair syndrome" EXACT []
synonym: "steely hair syndromes" EXACT []
synonym: "X-linked copper deficiency" EXACT []
xref: GARD:1521
xref: MESH:D007706
xref: NCI:C75486
xref: ORDO:565
is_a: DOID:225 ! syndrome
is_a: DOID:421 ! hair disease
is_a: DOID:896 ! metal metabolism disorder
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:184
name: bone cancer
def: "A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. (DO)" [http://www.cancer.gov/cancertopics/factsheet/Sites-Types/bone "DO", http://www.cancer.gov/cancertopics/types/bone "DO"]
synonym: "bone cancers" EXACT []
synonym: "CA - bone cancer" EXACT []
synonym: "cancer of bone" EXACT []
synonym: "cancer of the bone" EXACT []
synonym: "malignant bone neoplasm" EXACT []
synonym: "malignant bone tumour" EXACT []
synonym: "malignant neoplasm of bone" EXACT []
synonym: "malignant osseous tumor" EXACT []
xref: EFO:0003820
xref: EFO:1000350
xref: NCI:C9343
is_a: DOID:201 ! connective tissue cancer
is_a: DOID:9004389 ! Bone Neoplasms

[Term]
id: DOID:1844
name: mononeuritis of upper limb
synonym: "upper limb mononeuritis" EXACT []
xref: ICD9CM:354.9
is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex

[Term]
id: DOID:1849
name: cannabis dependence
def: "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Cannabis_dependence "DO"]
synonym: "marijuana dependence" EXACT []
xref: EFO:0004218
xref: EFO:0007191
xref: ICD10CM:F12.2
xref: ICD9CM:304.3
xref: NCI:C34445
xref: RDO:9002647
is_a: DOID:9977 ! hallucinogen dependence
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:1852
name: intrahepatic cholestasis
def: "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver. (DO)" [https://medlineplus.gov/ency/article/000215.htm "DO"]
synonym: "ATP8B1-related" BROAD []
synonym: "familial intrahepatic cholestasis" NARROW []
synonym: "intrahepatic bile duct obstruction" EXACT []
synonym: "Intrahepatic Biliary Stases" EXACT []
synonym: "Intrahepatic Biliary Stasis" EXACT []
synonym: "intrahepatic cholestases" EXACT []
synonym: "neonatal intrahepatic cholestasis" EXACT []
synonym: "progressive intrahepatic cholestasis" NARROW []
xref: GARD:10214
xref: MESH:D002780
xref: NCI:C84400
xref: ORDO:284385
is_a: DOID:13580 ! cholestasis
is_a: DOID:409 ! liver disease

[Term]
id: DOID:1856
name: cherubism
def: "A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10364528 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11381256 "DO"]
synonym: "CRBM" EXACT []
synonym: "familial benign giant-cell tumor of the jaw" EXACT []
synonym: "familial fibrous dysplasia of jaw" EXACT []
synonym: "familial multilocular cystic disease of the jaws" EXACT []
synonym: "fibrous dysplasia of jaw" EXACT []
xref: EFO:0004150
xref: GARD:6036
xref: MESH:D002636
xref: MIM:118400
xref: MONDO:0007315
xref: NCI:C84630
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9003876 ! Jaw Diseases
is_a: DOID:9004563 ! Maxillofacial Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9008267 ! Fibrous Dysplasia of Bone

[Term]
id: DOID:1858
name: McCune Albright syndrome
alt_id: MIM:174800
def: "A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. (DO)" [http://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome "DO", http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK537092/ "DO"]
synonym: "Albright's disease" EXACT []
synonym: "Albright's disease of bone" EXACT []
synonym: "Albright's syndrome" EXACT []
synonym: "Albright's syndrome with precocious puberty" EXACT []
synonym: "Albright-Mccune-Sternberg syndrome" EXACT []
synonym: "Albright-Sternberg syndrome" EXACT []
synonym: "Albright syndrome" EXACT []
synonym: "fibrous dysplasia of bone" EXACT []
synonym: "fibrous dysplasia with pigmentary skin changes and precocious puberty" EXACT []
synonym: "MAS" EXACT []
synonym: "osteitis fibrosa disseminata" EXACT []
synonym: "PFD" NARROW []
synonym: "POFD" NARROW []
synonym: "polyostotic fibrous dysplasia" EXACT []
synonym: "polyostotic fibrous dysplasias" EXACT []
xref: GARD:6995
xref: ICD10CM:Q78.1
xref: ICD9CM:756.54
xref: MESH:D005359
xref: NCI:C34610
xref: NCI:C48627
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008267 ! Fibrous Dysplasia of Bone
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:1862
name: jaw cancer
def: "A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone. (DO)" [https://www.mayoclinic.org/diseases-conditions/jaw-tumors-cysts/symptoms-causes/syc-20350973 "DO"]
synonym: "cancer of jaw" EXACT []
synonym: "cancer of the jaw" EXACT []
synonym: "jaw cancers" EXACT []
xref: EFO:0007333
is_a: DOID:184 ! bone cancer
is_a: DOID:9004594 ! Jaw Neoplasms

[Term]
id: DOID:1863
name: skull cancer
xref: NCI:C3375
is_a: DOID:184 ! bone cancer
is_a: DOID:9001331 ! Skull Neoplasms

[Term]
id: DOID:1866
name: giant cell reparative granuloma
synonym: "central giant cell granuloma" EXACT []
synonym: "central giant cell reparative granuloma" EXACT []
synonym: "central giant cell reparative granuloma of jaw" EXACT []
xref: EFO:1000950
xref: ICD10CM:M27.1
xref: ICD9CM:526.3
xref: NCI:C173930
is_a: DOID:4305 ! bone giant cell tumor
is_a: DOID:9000640 ! Giant Cell Granuloma

[Term]
id: DOID:1869
name: chronic rheumatic pericarditis
xref: ICD10CM:I09.2
xref: ICD9CM:393
is_a: DOID:1575 ! rheumatic disease
is_a: DOID:1787 ! pericarditis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:1875
name: impotence
def: "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity. (DO)" [https://www.mayoclinic.org/diseases-conditions/erectile-dysfunction/symptoms-causes/syc-20355776 "DO"]
synonym: "erectile dysfunction" EXACT []
synonym: "male impotence" EXACT []
synonym: "male sexual impotence" EXACT []
synonym: "sexual impotence" EXACT []
xref: EFO:0004234
xref: MESH:D007172
xref: NCI:C3133
is_a: DOID:1876 ! sexual dysfunction

[Term]
id: DOID:1876
name: sexual dysfunction
def: "A male reproductive system disease that is characterized by disturbances in sexual desire or performance. (DO)" [https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction "DO"]
synonym: "antidepressant-induced sexual dysfunction" NARROW []
synonym: "Physiological Sexual Disorder" EXACT []
synonym: "physiological sexual disorders" EXACT []
synonym: "physiological sexual dysfunction" EXACT []
synonym: "physiological sexual dysfunctions" EXACT []
synonym: "sex disorders" EXACT []
xref: EFO:0004714
xref: EFO:0006322
xref: ICD10CM:F52.9
xref: ICD10CM:R37
xref: MESH:D012735
xref: NCI:C3347
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:1882
name: atrial heart septal defect
def: "A heart septal defect located_in in the septum that separates the two atria of the heart. (DO)" [https://en.wikipedia.org/wiki/Atrial_septal_defect "DO"]
synonym: "Atrial Septal Defect" EXACT []
synonym: "atrial septal defects" EXACT []
synonym: "atrioseptal defect" EXACT []
synonym: "auricular septal defect" EXACT []
synonym: "congenital atrial septal defect" EXACT []
synonym: "interatrial septal defect" EXACT []
synonym: "interauricular septal defect" EXACT []
synonym: "Ostium Secundum Atrial Septal Defect" EXACT []
synonym: "persistent ostium primum" EXACT []
xref: EFO:1000825
xref: ICD10CM:Q21.1
xref: MESH:D006344
xref: MIM:PS108800
xref: NCI:C84473
xref: ORDO:1478
is_a: DOID:1681 ! heart septal defect

[Term]
id: DOID:1883
name: hepatitis C
alt_id: MIM:609532
def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. (DO)" [http://www.cdc.gov/hepatitis/HCV/index.htm "DO", http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf "DO", http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf "DO"]
synonym: "chronic hepatitis C" EXACT []
synonym: "HCV, resistance to" NARROW []
synonym: "HCV, SUSCEPTIBILITY TO  HEPATITIS C VIRUS, RESISTANCE TO" NARROW []
synonym: "hepatitis C infection" EXACT []
synonym: "HEPATITIS C VIRUS INFECTION, RESPONSE TO THERAPY OF" NARROW []
synonym: "hepatitis C virus, susceptibility to" NARROW []
synonym: "hepatitis nonA nonB" EXACT []
synonym: "NANBH" EXACT []
synonym: "parenterally transmitted non A, non B hepatitis" EXACT []
synonym: "parenterally-transmitted viral hepatitis, non-A, non-B" EXACT []
synonym: "PT-NANBH" EXACT []
synonym: "viral hepatitis C" EXACT []
xref: EFO:0003047
xref: ICD10CM:B19.20
xref: ICD9CM:070.7
xref: MESH:D006526
xref: NCI:C3098
is_a: DOID:9007329 ! Human Viral Hepatitis
is_a: DOID:9008551 ! Flaviviridae Infections

[Term]
id: DOID:1884
name: viral hepatitis
def: "A hepatitis that involves viral infection causing inflammation of the liver. (DO)" [http://www.cdc.gov/HEPATITIS/ "DO"]
synonym: "HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO" RELATED []
synonym: "viral hepatitis with hepatic coma" EXACT []
xref: EFO:0004196
xref: EFO:0007540
is_a: DOID:2237 ! hepatitis
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:1891
name: optic nerve disease
def: "A cranial nerve disease that is located_in the optic nerve. (DO)" [http://www.academy.org.uk/lectures/barnard3.htm "DO", http://www.nature.com/eye/journal/v18/n11/full/6701575a.html "DO"]
synonym: "cranial nerve II diseases" EXACT []
synonym: "cranial nerve II disorder" EXACT []
synonym: "disorder of the second nerve" EXACT []
synonym: "Neural Optical Lesion" EXACT []
synonym: "neural-optical lesions" EXACT []
synonym: "Optic Disk Disorder" EXACT []
synonym: "Optic Disk Disorders" EXACT []
synonym: "optic nerve diseases" EXACT []
synonym: "optic nerve disorder" EXACT []
synonym: "optic neuropathies" EXACT []
synonym: "optic neuropathy" EXACT []
synonym: "second cranial nerve diseases" EXACT []
xref: MESH:D009901
xref: NCI:C79698
is_a: DOID:5614 ! eye disease
is_a: DOID:5656 ! cranial nerve disease

[Term]
id: DOID:1893
name: eczematous dermatitis of eyelid
xref: ICD10CM:H01.13
xref: ICD9CM:373.31
xref: RDO:9003500
is_a: DOID:1894 ! noninfectious dermatoses of eyelid
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:1894
name: noninfectious dermatoses of eyelid
synonym: "non-infected eyelid dermatoses" EXACT []
xref: ICD10CM:H01.1
xref: ICD9CM:373.3
is_a: DOID:37 ! skin disease
is_a: DOID:9423 ! blepharitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:1895
name: allergic contact dermatitis of eyelid
def: "A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant. (DO)" [https://en.wikipedia.org/wiki/Allergic_contact_dermatitis "DO"]
synonym: "contact and allergic dermatitis of eyelid" EXACT []
xref: ICD9CM:373.32
is_a: DOID:1894 ! noninfectious dermatoses of eyelid
is_a: DOID:3042 ! allergic contact dermatitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:1896
name: sigmoid neoplasm
def: "Tumors or cancer of the SIGMOID COLON." []
synonym: "cancer of sigmoid" EXACT []
synonym: "cancer of the sigmoid" EXACT []
synonym: "neoplasm of sigmoid colon" EXACT []
synonym: "Sigmoidal Cancer" EXACT []
synonym: "Sigmoid Cancer" EXACT []
synonym: "sigmoid colon cancer" EXACT []
synonym: "sigmoid colon neoplasm" EXACT []
synonym: "sigmoid colon neoplasms" EXACT []
synonym: "sigmoid colon tumor" EXACT []
synonym: "sigmoid neoplasms" EXACT []
synonym: "tumor of sigmoid colon" EXACT []
xref: EFO:1001181
xref: MESH:D012811
is_a: DOID:1897 ! sigmoid disease
is_a: DOID:235 ! colonic benign neoplasm

[Term]
id: DOID:1897
name: sigmoid disease
def: "Pathological processes in the SIGMOID COLON region of the large intestine (INTESTINE, LARGE)." [MESH:D012810]
synonym: "Sigmoid Colon Disease" EXACT []
synonym: "Sigmoid Colon Diseases" EXACT []
synonym: "sigmoid diseases" EXACT []
xref: MESH:D012810
is_a: DOID:5353 ! colonic disease

[Term]
id: DOID:1901
name: vagina sarcoma
def: "A vaginal cancer that has_material_basis_in connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21816677 "DO"]
synonym: "sarcoma of the vagina" EXACT []
xref: NCI:C7737
is_a: DOID:1115 ! sarcoma
is_a: DOID:119 ! vaginal cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:1906
name: malignant skin fibrous histiocytoma
synonym: "cutaneous malignant fibrous histiocytoma" EXACT []
synonym: "cutaneous unclassified pleomorphic sarcoma" EXACT []
synonym: "cutaneous undifferentiated pleomorphic sarcoma" EXACT []
synonym: "malignant fibrous histiocytoma of skin" EXACT []
xref: EFO:1000212
xref: NCI:C27394
xref: NCI:C5576
is_a: DOID:1907 ! malignant fibrous histiocytoma
is_a: DOID:5274 ! malignant dermis tumor
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:1907
name: malignant fibrous histiocytoma
def: "The most commonly diagnosed soft tissue sarcoma. It is a neoplasm with a fibrohistiocytic appearance found chiefly in later adult life, with peak incidence in the 7th decade." [MESH:D051677]
synonym: "Fibroxanthosarcoma" EXACT []
synonym: "malignant fibrohistiocytic tumor" EXACT []
synonym: "malignant fibrohistiocytic tumors" EXACT []
synonym: "malignant fibrous histiocytomas" EXACT []
synonym: "malignant fibroxanthoma" EXACT []
synonym: "MFH" EXACT []
synonym: "pleomorphic malignant fibrous histiocytoma" EXACT []
synonym: "undifferentiated pleomorphic sarcoma" EXACT []
xref: EFO:1001972
xref: ICDO:8830/3
xref: MESH:D051677
xref: NCI:C4247
xref: NCI:C60442
is_a: DOID:1115 ! sarcoma
is_a: DOID:4231 ! histiocytoma
is_a: DOID:9006050 ! undifferentiated sarcoma

[Term]
id: DOID:1909
name: melanoma
def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye. (DO)" [http://en.wikipedia.org/wiki/Melanoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/22123420 "DO"]
synonym: "albumin B" RELATED []
synonym: "Albumin Nagano" RELATED []
synonym: "Albumin Oliphant" RELATED []
synonym: "Albumin Osaka 2" RELATED []
synonym: "Albumin Phnom Penh" RELATED []
synonym: "Albumin Verona B" RELATED []
synonym: "Malignant Melanoma" EXACT []
synonym: "malignant melanomas" EXACT []
synonym: "Malignant Melanoma, Somatic" EXACT []
synonym: "MALIGNANT MELANOMA SUSCEPTIBILITY" RELATED []
synonym: "melanomas" EXACT []
synonym: "naevocarcinoma" EXACT []
synonym: "Non-Cutaneous Melanoma" NARROW []
xref: EFO:0000756
xref: EFO:1000397
xref: MESH:D008545
xref: NCI:C120298
xref: NCI:C21790
xref: NCI:C3224
xref: NCI:C60451
is_a: DOID:0050687 ! cell type cancer
is_a: DOID:9005825 ! Nevi and Melanomas

[Term]
id: DOID:1910
name: vaginal yolk sac tumor
def: "A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30814243 "DO"]
synonym: "vaginal endodermal sinus neoplasm" EXACT []
synonym: "vaginal Yolk Sac neoplasm" EXACT [NCI2004_11_17:C6379]
xref: NCI:C6379
xref: RDO:9004610
is_a: DOID:119 ! vaginal cancer
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:1911
name: endodermal sinus tumor
def: "A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. (DO)" [http://en.wikipedia.org/wiki/Endodermal_sinus_tumor "DO", http://en.wikipedia.org/wiki/Germ_cell_tumor "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=876 "DO", https://www.cincinnatichildrens.org/health/y/yolk-sac/ "DO"]
synonym: "endodermal sinus tumors" EXACT []
synonym: "endodermal sinus tumour" EXACT []
synonym: "hepatoid yolk sac tumour" EXACT []
synonym: "infantile embryonal carcinoma" EXACT []
synonym: "yolk sac neoplasm" EXACT []
synonym: "yolk sac tumor" EXACT []
synonym: "yolk sac tumors" EXACT []
synonym: "yolk sac tumour" EXACT []
xref: EFO:0007252
xref: ICDO:9071/3
xref: MESH:D018240
xref: NCI:C3011
is_a: DOID:154 ! mixed cell type cancer
is_a: DOID:2994 ! germ cell cancer
is_a: DOID:3095 ! germ cell and embryonal cancer
is_a: DOID:9006399 ! Mesonephroma

[Term]
id: DOID:1919
name: Lesch-Nyhan syndrome
def: "A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31182398/ "DO"]
synonym: "choreoathetosis self mutilation hyperuricemia syndrome" EXACT []
synonym: "choreoathetosis self mutilation syndrome" EXACT []
synonym: "choreoathetosis self-mutilation syndromes" EXACT []
synonym: "complete HGPRT deficiency disease" EXACT []
synonym: "complete HPRT deficiencies" EXACT []
synonym: "complete HPRT deficiency" EXACT []
synonym: "Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency" EXACT []
synonym: "Deficiency of Guanine Phosphoribosyltransferase" EXACT []
synonym: "Deficiency of Hypoxanthine Phosphoribosyltransferase" EXACT []
synonym: "deficiency of IMP pyrophosphorylase" EXACT []
synonym: "guanine phosphoribosyltransferase deficiencies" EXACT []
synonym: "Guanine Phosphoribosyltransferase Deficiency" EXACT []
synonym: "HGPRT Deficiencies" EXACT []
synonym: "HG-PRT deficiency" EXACT []
synonym: "HGPRT Deficiency" EXACT []
synonym: "HPRT1 DEFICIENCY" EXACT []
synonym: "HPRT1-RELATED DISORDERS" BROAD []
synonym: "HPRT CHERMSIDE" RELATED []
synonym: "HPRT CHICAGO" RELATED []
synonym: "HPRT CONNERSVILLE" RELATED []
synonym: "HPRT COORPAROO" RELATED []
synonym: "HPRT DEFICIENCY" EXACT []
synonym: "HPRT DETROIT" RELATED []
synonym: "HPRT EVANSVILLE" RELATED []
synonym: "HPRT FLINT" RELATED []
synonym: "HPRT Fujimi" RELATED []
synonym: "HPRT KINSTON" RELATED []
synonym: "HPRT MICHIGAN" RELATED []
synonym: "HPRT MIDLAND" RELATED []
synonym: "HPRT NEW BRITON" RELATED []
synonym: "HPRT NEW HAVEN" RELATED []
synonym: "HPRT PARIS" RELATED []
synonym: "HPRT TOKYO" RELATED []
synonym: "HPRT Yale" RELATED []
synonym: "Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency" EXACT []
synonym: "Hypoxanthine Guanine Phosphoribosyltransferase Deficiency" EXACT []
synonym: "Hypoxanthine Phosphoribosyltransferase Deficiencies" EXACT []
synonym: "Hypoxanthine Phosphoribosyltransferase Deficiency" EXACT []
synonym: "Hypoxanthine Phosphoribosyl Transferase Deficiency Disease" EXACT []
synonym: "Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases" EXACT []
synonym: "Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome" EXACT []
synonym: "Juvenile Hyperuricemia Syndrome" EXACT []
synonym: "Juvenile Hyperuricemia Syndromes" EXACT []
synonym: "Lesch Nyhan Disease" EXACT []
synonym: "LNS" EXACT []
synonym: "Primary Hyperuricemia Syndrome" EXACT []
synonym: "primary hyperuricemia syndromes" EXACT []
synonym: "total HPRT deficiency" EXACT []
synonym: "total hypoxanthine guanine phosphoribosyl transferase deficiency" EXACT []
synonym: "X-linked hyperuricemia" EXACT []
synonym: "X-linked hyperuricemias" EXACT []
synonym: "X-linked primary hyperuricemia" EXACT []
synonym: "X-linked primary hyperuricemias" EXACT []
xref: ICD10CM:E79.1
xref: MESH:D007926
xref: MIM:300322
xref: MONDO:0010298
xref: NCI:C61255
xref: ORDO:510
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:653 ! purine-pyrimidine metabolic disorder
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:192
name: sex cord-gonadal stromal tumor
def: "A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. (DO)" [http://en.wikipedia.org/wiki/Sex_cord-gonadal_stromal_tumour "DO"]
synonym: "gynandroblastoma" EXACT []
synonym: "gynandroblastomas" EXACT []
synonym: "malignant testicular sex cord-stromal tumor" NARROW []
synonym: "malignant testicular sex cord-stromal tumour" NARROW []
synonym: "sex cord-gonadal stromal tumour" EXACT []
synonym: "sex cord-stromal neoplasm" EXACT []
synonym: "Sex Cord Stromal Tumor" EXACT []
synonym: "sex cord-stromal tumors" EXACT []
synonym: "sex cord stromal tumour" EXACT []
synonym: "specialized gonadal neoplasm" EXACT []
synonym: "specialized gonadal tumor" EXACT []
synonym: "specialized gonadal tumour" EXACT []
xref: EFO:0007483
xref: EFO:1000052
xref: ICDO:8590/1
xref: MESH:D018312
xref: NCI:C3794
is_a: DOID:193 ! reproductive organ cancer
is_a: DOID:9005959 ! Gonadal Tissue Neoplasms

[Term]
id: DOID:1920
name: hyperuricemia
def: "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. (DO)" [http://en.wikipedia.org/wiki/Hyperuricemia "DO"]
synonym: "blood urate raized" EXACT []
synonym: "uricacidemia" EXACT []
xref: EFO:0009104
xref: MESH:D033461
xref: NCI:C3961
is_a: DOID:0060158 ! acquired metabolic disease
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:1921
name: Klinefelter syndrome
def: "A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men. (DO)" [https://ghr.nlm.nih.gov/condition/klinefelter-syndrome "DO", https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome "DO"]
synonym: "47, XXY" EXACT []
synonym: "48,XXYY syndrome" EXACT []
synonym: "49,XXXXY Syndrome" EXACT []
synonym: "Hypogonadotropic Hypogonadism" EXACT []
synonym: "Klinefelter's syndrome" EXACT []
synonym: "Klinefelters syndrome" EXACT []
synonym: "Klinefelter syndromes" EXACT []
synonym: "Klinefelter Syndromes, Variants" EXACT []
synonym: "Klinefelter Syndrome, Variants" EXACT []
synonym: "XXXY Male" EXACT []
synonym: "XXXY Males" EXACT []
synonym: "XXY Syndrome" EXACT []
synonym: "XXY Syndromes" EXACT []
synonym: "XXY Trisomies" EXACT []
synonym: "XXY trisomy" EXACT []
synonym: "XXYY syndrome" EXACT []
synonym: "XXYY syndromes" EXACT []
xref: EFO:1001006
xref: GARD:8705
xref: ICD10CM:Q98.0
xref: ICD9CM:758.7
xref: MESH:D007713
xref: NCI:C185635
xref: NCI:C34752
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:9003262 ! Sex Chromosome Disorders of Sex Development

[Term]
id: DOID:1923
name: disorder of sexual development
def: "A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976999/ "DO"]
synonym: "ambiguous genitalia" EXACT []
synonym: "disorder of sexual differentiation" EXACT []
synonym: "Disorders of Sex Development" EXACT []
synonym: "disorders of sexual development" EXACT []
synonym: "genital ambiguities" EXACT []
synonym: "Genital Ambiguity" EXACT []
synonym: "Intersex Condition" EXACT []
synonym: "intersex conditions" EXACT []
synonym: "Intersexualities" EXACT []
synonym: "Intersexuality" EXACT []
synonym: "sex development disorder" EXACT []
synonym: "sex development disorders" EXACT []
synonym: "sex differentiation disease" EXACT []
synonym: "Sex Differentiation Disorder" EXACT []
synonym: "sex differentiation disorders" EXACT []
synonym: "sexual development disorder" EXACT []
synonym: "sexual development disorders" EXACT []
synonym: "sexual differentiation disorder" EXACT []
synonym: "sexual differentiation disorders" EXACT []
xref: MESH:D012734
xref: NCI:C103186
is_a: DOID:2277 ! gonadal disease
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:1924
name: hypogonadism
alt_id: MIM:241100
def: "A gonadal disease that is characterized by diminished functional activity of the gonads. (DO)" [http://en.wikipedia.org/wiki/Hypogonadism "DO"]
synonym: "hypergonadotropic hypogonadism" EXACT []
synonym: "isolated hypogonadotropic hypogonadism" EXACT []
synonym: "nonsyndromic hypergonadotropic hypogonadism" NARROW []
xref: MESH:D007006
xref: NCI:C9227
is_a: DOID:2277 ! gonadal disease

[Term]
id: DOID:1925
name: Coffin-Siris syndrome
alt_id: MESH:C536436
def: "An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. (DO)" [http://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome "DO", http://ghr.nlm.nih.gov/condition/coffin-siris-syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465 "DO"]
synonym: "Coffin Siris/intellectual disability" EXACT []
synonym: "CSS" EXACT []
synonym: "dwarfism-onychodysplasia" EXACT []
synonym: "fifth digit syndrome" EXACT []
synonym: "short stature-onychodysplasia." EXACT []
xref: GARD:6124
xref: MIM:PS135900
xref: NCI:C35321
xref: ORDO:1465
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:225 ! syndrome
is_a: DOID:420 ! hypertrichosis
is_a: DOID:9001487 ! Facies
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9005616 ! Micrognathism
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:1926
name: Gaucher's disease
def: "A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. (DO)" [http://en.wikipedia.org/wiki/Gaucher%27s_disease "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract "DO"]
synonym: "acid beta-glucosidase deficiency" EXACT []
synonym: "acid beta-glucosidase deficiency disease" EXACT []
synonym: "cerebroside lipidosis syndrome" EXACT []
synonym: "cerebroside lipidosis syndromes" EXACT []
synonym: "Chronic Gaucher Disease" EXACT []
synonym: "Gaucher disease" EXACT []
synonym: "GAUCHER DISEASE, NORRBOTTNIAN TYPE" NARROW []
synonym: "GAUCHER DISEASE, TYPE IIIB" NARROW []
synonym: "Gauchers Disease" EXACT []
synonym: "Gaucher Splenomegaly" EXACT []
synonym: "Gaucher Syndrome" EXACT []
synonym: "GBA deficiencies" EXACT []
synonym: "GBA Deficiency" EXACT []
synonym: "glocucerebrosidase deficiency" EXACT []
synonym: "Glucocerebrosidase Deficiencies" EXACT []
synonym: "Glucocerebrosidase Deficiency" EXACT []
synonym: "Glucocerebrosidase Deficiency Disease" EXACT []
synonym: "Glucocerebrosidase Deficiency Diseases" EXACT []
synonym: "Glucocerebrosidoses" EXACT []
synonym: "Glucocerebrosidosis" EXACT []
synonym: "Glucosylceramidase Deficiency" EXACT []
synonym: "Glucosylceramide Beta-Glucosidase Deficiency" EXACT []
synonym: "Glucosylceramide Beta-Glucosidase Deficiency Disease" EXACT []
synonym: "Glucosylceramide Lipidoses" EXACT []
synonym: "Glucosylceramide Lipidosis" EXACT []
synonym: "Glucosyl Cerebroside Lipidoses" EXACT []
synonym: "Glucosyl Cerebroside Lipidosis" EXACT []
synonym: "Infantile Gaucher Disease" EXACT []
synonym: "Kerasin Histiocytoses" EXACT []
synonym: "Kerasin Histiocytosis" EXACT []
synonym: "Kerasin Lipoidoses" EXACT []
synonym: "kerasin lipoidosis" EXACT []
synonym: "kerasin thesaurismoses" EXACT []
synonym: "kerasin thesaurismosis" EXACT []
synonym: "lipoid histiocytoses (kerasin type)" EXACT []
synonym: "lipoid histiocytosis" EXACT []
synonym: "lipoid histiocytosis (kerasin type)" EXACT []
synonym: "neuronopathic Gaucher disease" EXACT []
xref: EFO:0004721
xref: GARD:8233
xref: ICD10CM:E75.22
xref: MESH:D005776
xref: MONDO:0018150
xref: NCI:C61268
xref: ORDO:355
is_a: DOID:1927 ! sphingolipidosis

[Term]
id: DOID:1927
name: sphingolipidosis
def: "A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. (DO)" [https://en.wikipedia.org/wiki/Sphingolipidoses "DO", https://www.ncbi.nlm.nih.gov/pubmed/28857617 "DO"]
synonym: "sphingolipidoses" EXACT []
synonym: "sphingolipid storage disease" EXACT []
synonym: "sphingolipid storage diseases" EXACT []
xref: GARD:7672
xref: ICD10CM:E75.3
xref: MESH:D013106
xref: NCI:C117254
is_a: DOID:9008012 ! Lysosomal Storage Diseases, Nervous System
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:1928
name: Williams-Beuren syndrome
def: "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. (DO)" [https://ghr.nlm.nih.gov/condition/williams-syndrome "DO", https://research.nhgri.nih.gov/atlas/condition/williams-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1249/ "DO"]
synonym: "Beuren syndrome" EXACT []
synonym: "chromosome 7q11.23 deletion syndrome" EXACT []
synonym: "chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-MB" EXACT []
synonym: "Fanconi Schlesinger syndrome" EXACT []
synonym: "hypercalcemia-supravalvar aortic stenoses" EXACT []
synonym: "hypercalcemia supravalvar aortic stenosis" EXACT []
synonym: "supravalvar aortic stenosis syndrome" EXACT []
synonym: "WBS" EXACT []
synonym: "Williams contiguous gene syndrome" EXACT []
synonym: "Williams syndrome" EXACT []
synonym: "WMS" EXACT []
synonym: "WS" EXACT []
xref: ICD10CM:Q93.82
xref: MESH:D018980
xref: MIM:194050
xref: MONDO:0008678
xref: NCI:C85232
xref: ORDO:904
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1929 ! supravalvular aortic stenosis

[Term]
id: DOID:1929
name: supravalvular aortic stenosis
alt_id: MIM:185500
def: "An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart. (DO)" [https://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis "DO", https://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis "DO"]
synonym: "aortic supravalvular stenoses" EXACT []
synonym: "ELN-RELATED CONDITION" BROAD []
synonym: "supravalvar aortic stenosis" EXACT []
synonym: "supra-valvular aortic stenosis" EXACT []
synonym: "SVAS" EXACT []
xref: GARD:743
xref: ICD10CM:Q25.3
xref: MESH:D021921
xref: MONDO:0008504
xref: NCI:C85176
xref: ORDO:3193
is_a: DOID:1712 ! aortic valve stenosis

[Term]
id: DOID:193
name: reproductive organ cancer
def: "An organ system cancer that is manifested in the reproductive organs. (DO)" [http://en.wikipedia.org/wiki/Reproductive_system#Examples_of_cancers "DO"]
synonym: "cancer of reproductive system" EXACT []
synonym: "malignant reproductive system neoplasm" EXACT []
synonym: "reproductive tumor" EXACT []
xref: NCI:C3674
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:15 ! reproductive system disease
is_a: DOID:9008651 ! reproductive system neoplasm
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:1930
name: Laurence-Moon syndrome
alt_id: MIM:245800
def: "A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25480986 "DO"]
synonym: "Laurence Moon Biedl syndrome" RELATED []
synonym: "LNMS" EXACT []
xref: GARD:12635
xref: MESH:D007849
xref: NCI:C34760
xref: ORDO:2377
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1931 ! hypothalamic disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:1931
name: hypothalamic disease
def: "A brain disease located_in the hypothalamus. (DO)" [https://en.wikipedia.org/wiki/Hypothalamic_disease "DO", https://medlineplus.gov/ency/article/002380.htm "DO"]
synonym: "Hypothalamic-Adenohypophyseal Disorder" EXACT []
synonym: "hypothalamic adenohypophyseal disorders" EXACT []
synonym: "hypothalamic diseases" EXACT []
synonym: "Hypothalamic Dysfunction Syndrome" EXACT []
synonym: "hypothalamic dysfunction syndromes" EXACT []
synonym: "Hypothalamic Dysinhibition Syndrome" EXACT []
synonym: "Hypothalamic Dysinhibition Syndromes" EXACT []
synonym: "Hypothalamic-Neurohypophyseal Disorder" EXACT []
synonym: "Hypothalamic Neurohypophyseal Disorders" EXACT []
synonym: "Hypothalamic Overactivity Syndrome" EXACT []
synonym: "Hypothalamic Overactivity Syndromes" EXACT []
synonym: "Hypothalamic Pseudopuberties" EXACT []
synonym: "hypothalamic pseudopuberty" EXACT []
synonym: "pituitary diencephalic syndrome" EXACT []
synonym: "pituitary diencephalic syndromes" EXACT []
xref: MESH:D007027
is_a: DOID:936 ! brain disease

[Term]
id: DOID:1932
name: Angelman syndrome
alt_id: MESH:C531619
alt_id: MIM:105830
def: "A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. (DO)" [https://en.wikipedia.org/wiki/Angelman_syndrome "DO", https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes "DO", https://research.nhgri.nih.gov/atlas/condition/angelman-syndrome "DO"]
synonym: "ANCR" NARROW []
synonym: "ANGELMAN SYNDROME CHROMOSOME REGION" NARROW []
synonym: "AS" EXACT []
synonym: "happy puppet syndrome" EXACT []
synonym: "puppet children" EXACT []
synonym: "puppetlike syndrome" EXACT []
xref: EFO:0004131
xref: GARD:5810
xref: ICD10CM:Q93.51
xref: MESH:D017204
xref: MONDO:0007113
xref: NCI:C75462
xref: ORDO:72
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:480 ! movement disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:1933
name: Rubinstein-Taybi syndrome
alt_id: MIM:180849
alt_id: MIM:613684
def: "A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. (DO)" [http://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome "DO", http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome "DO", https://research.nhgri.nih.gov/atlas/condition/rubinstein-taybi-syndrome "DO"]
synonym: "broad thumb hallux syndrome" EXACT []
synonym: "broad thumb-hallux syndromes" EXACT []
synonym: "broad thumbs and great toes, characteristic facies, and mental retardation" EXACT []
synonym: "CREBBP-RELATED CONDITION" BROAD []
synonym: "RSTS" EXACT []
synonym: "RSTS1" EXACT []
synonym: "RSTS2" EXACT []
synonym: "Rubinstein syndrome" EXACT []
synonym: "Rubinstein-Taybi syndrome 1" EXACT []
synonym: "Rubinstein-Taybi syndrome 2" EXACT []
xref: GARD:7593
xref: MESH:D012415
xref: MIM:PS180849
xref: NCI:C75466
xref: ORDO:783
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1934 ! dysostosis
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:1934
name: dysostosis
def: "A bone development disease that results in defective ossification of bone. (DO)" [http://en.wikipedia.org/wiki/Dysostosis "DO", http://medical-dictionary.thefreedictionary.com/dysostosis "DO"]
synonym: "dysostoses" EXACT []
xref: MESH:D004413
xref: NCI:C34560
is_a: DOID:0080006 ! bone development disease

[Term]
id: DOID:1935
name: Bardet-Biedl syndrome
def: "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. (DO)" [http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome "DO", http://en.wikipedia.org/wiki/Ciliopathy "DO", http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome "DO"]
synonym: "Bardet-Biedl syndrome, modifier of" RELATED []
xref: GARD:6866
xref: MESH:D020788
xref: MIM:PS209900
xref: NCI:C118632
xref: ORDO:110
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060340 ! ciliopathy
is_a: DOID:1931 ! hypothalamic disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:1936
name: atherosclerosis
alt_id: MIM:108725
def: "A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. (DO)" []
synonym: "ALP" EXACT []
synonym: "Atherogenesis" EXACT []
synonym: "ATHEROGENIC LIPOPROTEIN PHENOTYPE" EXACT []
synonym: "Atheroscleroses" EXACT []
synonym: "ATHEROSCLEROSIS SUSCEPTIBILITY" EXACT []
synonym: "Atherosclerosis, Susceptibility To" EXACT []
synonym: "ATHS" EXACT []
xref: EFO:0003914
xref: ICD10CM:I70
xref: ICD9CM:440
xref: MESH:D050197
xref: NCI:C35768
xref: NCI:C35771
is_a: DOID:2348 ! arteriosclerotic cardiovascular disease

[Term]
id: DOID:1942
name: intermittent squint
synonym: "intermittent heterotropia" EXACT []
xref: ICD10CM:H50.3
xref: ICD9CM:378.2
is_a: DOID:540 ! strabismus
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:1943
name: telogen effluvium
xref: ICD10CM:L65.0
xref: ICD9CM:704.02
xref: NCI:C112200
is_a: DOID:987 ! alopecia
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:1947
name: trichomoniasis
def: "A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively. (DO)" [http://en.wikipedia.org/wiki/Trichomoniasis "DO"]
synonym: "trichomonas infection" EXACT []
synonym: "trichomonas infections" EXACT []
xref: ICD10CM:A59
xref: ICD9CM:131
xref: MESH:D014245
xref: NCI:C35720
is_a: DOID:2789 ! parasitic protozoa infectious disease

[Term]
id: DOID:1949
name: cholecystitis
alt_id: DOID:9006000
def: "A cholangitis that is characterized by an inflammation that is located in the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Cholecystitis "DO", https://www.merriam-webster.com/dictionary/cholecystitis#medicalDictionary "DO"]
synonym: "acute and chronic cholecystitis" EXACT []
synonym: "acute on chronic cholecystitis" EXACT []
synonym: "chronic cholecystitis" EXACT []
synonym: "gall bladder empyema" EXACT []
synonym: "gallbladder empyema" EXACT []
synonym: "gallbladder inflammation" EXACT []
xref: GARD:30
xref: ICD10CM:K81
xref: ICD9CM:575.10
xref: MESH:D002764
xref: NCI:C34465
is_a: DOID:0060262 ! gallbladder disease
is_a: DOID:9446 ! cholangitis

[Term]
id: DOID:1962
name: fallopian tube disease
def: "A female reproductive system disease that is located_in the fallopian tube. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21415195 "DO"]
synonym: "fallopian tube diseases" EXACT []
synonym: "tubal obstruction" EXACT []
synonym: "tubal obstructions" EXACT []
xref: EFO:0009548
xref: MESH:D005184
xref: NCI:C26771
is_a: DOID:229 ! female reproductive system disease
is_a: DOID:9003261 ! Adnexal Diseases

[Term]
id: DOID:1963
name: fallopian tube carcinoma
def: "A fallopian tube cancer that is located_in the fallopian tube. (DO)" [http://www.cancer.gov/dictionary/?CdrID=45687 "DO"]
synonym: "cancer of the fallopian tube" EXACT []
synonym: "carcinoma of fallopian tube" EXACT []
synonym: "fallopian tube Ca" EXACT []
xref: EFO:1000251
xref: NCI:C3867
is_a: DOID:1964 ! fallopian tube cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:1964
name: fallopian tube cancer
def: "A female reproductive organ cancer that is located_in fallopian tube. (DO)" [http://en.wikipedia.org/wiki/Fallopian_tube_cancer "DO"]
synonym: "cancer of fallopian tubes" EXACT []
synonym: "fallopian tube neoplasm" EXACT []
synonym: "malignant fallopian tube tumor" EXACT []
synonym: "malignant neoplasm of uterine tube" EXACT []
synonym: "malignant tumor of fallopian tube" EXACT []
synonym: "malignant tumor of fallopian tubes" EXACT []
synonym: "malignant tumour of fallopian tube" EXACT []
synonym: "neoplasm of fallopian tube" EXACT []
synonym: "tumor of the fallopian tube" EXACT []
xref: GARD:9162
xref: ICD10CM:C57.0
xref: ICD9CM:183.2
xref: NCI:C3032
xref: NCI:C7480
xref: ORDO:180242
is_a: DOID:120 ! female reproductive organ cancer
is_a: DOID:9000189 ! Fallopian Tube Neoplasms
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:1965
name: fallopian tube leiomyosarcoma
def: "A fallopian tube cancer that dervies_from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20191300 "DO"]
xref: NCI:C40128
is_a: DOID:1964 ! fallopian tube cancer
is_a: DOID:1967 ! leiomyosarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:1967
name: leiomyosarcoma
def: "A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis. (DO)" [http://www.cancer.gov/dictionary/?CdrID=46027 "DO"]
synonym: "leiomyosarcomas" EXACT []
xref: EFO:0000564
xref: GARD:6880
xref: ICDO:8890/3
xref: MESH:D007890
xref: NCI:C3158
is_a: DOID:1115 ! sarcoma
is_a: DOID:4230 ! smooth muscle cancer

[Term]
id: DOID:1969
name: cerebral palsy
def: "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. (DO)" [http://en.wikipedia.org/wiki/Cerebral_palsy "DO", http://www.brainandspinalcord.org/cerebral-palsy/index.html "DO", http://www.cerebralpalsy.org/what-is-cerebral-palsy/ "DO"]
synonym: "athetoid cerebral palsies" NARROW []
synonym: "athetoid cerebral palsy" NARROW []
synonym: "atonic cerebral palsy" NARROW []
synonym: "congenital cerebral palsy" EXACT []
synonym: "CP" EXACT []
synonym: "dystonic-rigid cerebral palsies" NARROW []
synonym: "dystonic-rigid cerebral palsy" NARROW []
synonym: "hypotonic cerebral palsies" NARROW []
synonym: "hypotonic cerebral palsy" NARROW []
synonym: "infantile cerebral palsy" EXACT []
synonym: "RHOB-RELATED DISORDER" NARROW []
synonym: "Rolandic type cerebral palsy" NARROW []
xref: EFO:1000632
xref: ICD10CM:G80
xref: MESH:D002547
xref: NCI:C34460
is_a: DOID:9008381 ! Chronic Brain Damage

[Term]
id: DOID:1970
name: fallopian tube carcinosarcoma
def: "A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. (DO)" [http://en.wikipedia.org/wiki/Carcinosarcoma "DO"]
synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumor" EXACT []
synonym: "fallopian tube malignant mixed Mullerian tumor" EXACT []
xref: EFO:1000252
xref: NCI:C40124
is_a: DOID:1964 ! fallopian tube cancer
is_a: DOID:4236 ! carcinosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:1973
name: fallopian tube adenosarcoma
def: "A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24557435 "DO"]
synonym: "fallopian tube mullerian adenosarcoma" EXACT []
xref: NCI:C40125
xref: RDO:9003282
is_a: DOID:1970 ! fallopian tube carcinosarcoma
is_a: DOID:1974 ! adenosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:1974
name: adenosarcoma
def: "A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. (DO)" [http://en.wikipedia.org/wiki/Adenosarcoma "DO"]
synonym: "adenosarcomas" EXACT []
synonym: "mullerian adenosarcoma" EXACT []
xref: EFO:0007134
xref: ICDO:8933/3
xref: MESH:D018195
xref: NCI:C9474
is_a: DOID:1115 ! sarcoma
is_a: DOID:4236 ! carcinosarcoma
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:1975
name: thymus lipoma
def: "An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24736228 "DO"]
synonym: "thymolipoma" EXACT []
xref: NCI:C6452
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:0060092 ! immune system organ benign neoplasm
is_a: DOID:3315 ! lipoma
is_a: DOID:533 ! thymus gland disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:1979
name: focal chorioretinitis
xref: ICD10CM:H30.0
xref: ICD9CM:363.0
xref: RDO:9003509
is_a: DOID:8886 ! chorioretinitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:1984
name: rectal benign neoplasm
def: "An intestinal benign neoplasm located_in the rectum. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK6994/ "DO"]
synonym: "neoplasm of rectum" EXACT []
synonym: "rectal neoplasm" EXACT []
synonym: "rectal neoplasms" EXACT []
synonym: "rectal tumor" EXACT []
synonym: "rectal tumors" EXACT []
synonym: "rectum neoplasm" EXACT []
synonym: "rectum neoplasms" EXACT []
xref: MESH:D012004
xref: NCI:C3350
is_a: DOID:4610 ! intestinal benign neoplasm
is_a: DOID:9008443 ! Colorectal Neoplasms

[Term]
id: DOID:1988
name: rectum lymphoma
synonym: "lymphoma of rectum" EXACT []
xref: NCI:C5553
is_a: DOID:0060058 ! lymphoma
is_a: DOID:1993 ! rectum cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:1992
name: rectum malignant melanoma
synonym: "malignant melanoma of rectum" EXACT []
synonym: "melanoma of rectum" EXACT []
xref: NCI:C4640
is_a: DOID:1909 ! melanoma
is_a: DOID:1993 ! rectum cancer
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:1993
name: rectum cancer
def: "A colorectal cancer that is located_in the rectum. (DO)" [http://www.cancer.gov/dictionary?CdrID=529764 "DO"]
synonym: "cancer of rectum" EXACT []
synonym: "carcinoma of rectum" EXACT []
synonym: "carcinoma of the rectum" EXACT []
synonym: "malignant neoplasm of rectum" EXACT []
synonym: "malignant rectal tumor" EXACT []
synonym: "malignant rectum tumor" EXACT []
synonym: "malignant tumor of rectum" EXACT []
synonym: "rectal cancer" EXACT []
synonym: "rectal cancers" EXACT []
synonym: "rectum cancers" EXACT []
xref: EFO:1000657
xref: ICD10CM:C20
xref: ICD9CM:154.1
xref: NCI:C7418
xref: NCI:C9382
is_a: DOID:9256 ! colorectal cancer
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:1995
name: rectum sarcoma
def: "A sarcoma and malignant tumor of rectum that is located_in the rectum. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23712252 "DO"]
synonym: "sarcoma of rectum" EXACT []
xref: NCI:C5548
is_a: DOID:1115 ! sarcoma
is_a: DOID:1993 ! rectum cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:1996
name: rectum adenocarcinoma
def: "A rectum cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of rectum" RELATED []
synonym: "rectal adenocarcinoma" EXACT []
xref: EFO:0005631
xref: NCI:C9383
is_a: DOID:0050861 ! colorectal adenocarcinoma
is_a: DOID:0050913 ! large intestine adenocarcinoma
is_a: DOID:9002533 ! Rectum Carcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:1998
name: Lutembacher's syndrome
def: "A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS." [MESH:D008185]
synonym: "Lutembacher's anomaly" EXACT [SNOMEDCT_2005_07_31:38842003]
synonym: "Lutembachers Syndrome" EXACT []
synonym: "Lutembacher syndrome" EXACT []
xref: EFO:1001024
xref: MESH:D008185
xref: RDO:0006034
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:225 ! syndrome

[Term]
id: DOID:1999
name: chronic eustachian salpingitis
def: "A otosalpingitis which is persistent and long-lasting. (DO)" [http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false "DO"]
synonym: "chronic eustachian tube salpingitis" EXACT []
xref: ICD10CM:H68.02
xref: ICD9CM:381.52
xref: RDO:9003845
is_a: DOID:2000 ! otosalpingitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:200
name: benign giant cell tumor
is_a: DOID:0060094 ! bone benign neoplasm
is_a: DOID:9003853 ! Giant Cell Tumors

[Term]
id: DOID:2000
name: otosalpingitis
def: "A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube. (DO)" [http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false "DO"]
synonym: "Eustachian salpingitis" EXACT []
synonym: "Eustachian tube salpingitis" EXACT []
xref: ICD10CM:H68.0
xref: ICD9CM:381.5
is_a: DOID:9739 ! eustachian tube disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2001
name: neuroma
def: "A nervous system benign neoplasm that is characterized as a nerve tissue tumor. (DO)" [http://en.wikipedia.org/wiki/Neuroma "DO"]
synonym: "neuromas" EXACT []
xref: EFO:0009619
xref: ICDO:9570/0
xref: MESH:D009463
xref: NCI:C3275
is_a: DOID:0060115 ! nervous system benign neoplasm
is_a: DOID:9004217 ! Nerve Sheath Neoplasms

[Term]
id: DOID:2006
name: preretinal fibrosis
def: "A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)" [MESH:D019773]
synonym: "cellophane maculopathy" EXACT []
synonym: "Epiretinal Membrane" EXACT []
synonym: "Epiretinal Membranes" EXACT []
synonym: "ERM" EXACT []
synonym: "macular puckering of retina" EXACT []
synonym: "macular retinal puckering" EXACT []
xref: ICD9CM:362.56
xref: MESH:D019773
xref: NCI:C175882
is_a: DOID:2007 ! degeneration of macula and posterior pole

[Term]
id: DOID:2007
name: degeneration of macula and posterior pole
synonym: "degeneration of macula and posterior pole of retina" EXACT []
synonym: "degeneration of macula or posterior pole" NARROW []
xref: ICD10CM:H35.3
xref: ICD9CM:362.5
is_a: DOID:4448 ! macular degeneration
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:201
name: connective tissue cancer
def: "A musculoskeletal system cancer that is located_in connective tissue. (DO)" [http://en.wikipedia.org/wiki/Connective_tissue "DO"]
synonym: "mesenchymal tissue malignant neoplasm" EXACT []
is_a: DOID:0060100 ! musculoskeletal system cancer
is_a: DOID:9003944 ! Connective Tissue Neoplasms

[Term]
id: DOID:2012
name: Nezelof syndrome
alt_id: MIM:242700
def: "A T cell deficiency that results from the disfunction or underdevelopment of the thymus. (DO)" [https://en.wikipedia.org/wiki/Nezelof_syndrome "DO", https://meshb.nlm.nih.gov/record/ui?ui=C536288 "DO"]
synonym: "immune defect due to absence of thymus" EXACT []
synonym: "Nezelof's syndrome" EXACT []
synonym: "T-cell immunodeficiency with thymic aplasia" EXACT []
synonym: "thymic aplasia" EXACT []
synonym: "thymic dysplasia with normal immunoglobulins" EXACT []
synonym: "TIDTA" EXACT []
xref: ICD10CM:D81.4
xref: ICD9CM:279.13
xref: MESH:C536288
xref: ORDO:83471
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:11200 ! T cell deficiency

[Term]
id: DOID:2018
name: hyperinsulinism
def: "A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS." [MESH:D006946]
synonym: "Compensatory Hyperinsulinemia" EXACT []
synonym: "Endogenous Hyperinsulinism" EXACT []
synonym: "Exogenous Hyperinsulinism" EXACT []
synonym: "HEREDITARY HYPERINSULINISM" NARROW []
synonym: "Hyperinsulinemia" EXACT []
synonym: "HYPERINSULINISM, DOMINANT" NARROW []
synonym: "HYPERINSULINISM, DOMINANT/RECESSIVE" NARROW []
synonym: "HYPERINSULINISM DUE TO HNF4A DEFICIENCY" NARROW []
synonym: "UCP2-RELATED CONDITION" NARROW []
xref: ICD10CM:E16.1
xref: MESH:D006946
is_a: DOID:1428 ! endocrine pancreas disease
is_a: DOID:225 ! syndrome
is_a: DOID:4194 ! glucose metabolism disease

[Term]
id: DOID:2021
name: placenta cancer
def: "A female reproductive organ cancer that is located_in the placenta. (DO)" [https://www.medstarcancer.org/conditions/gynecologic-cancer/placenta-cancer/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26156670 "DO"]
synonym: "malignant neoplasm of placenta" EXACT []
synonym: "malignant placental tumor" EXACT []
synonym: "neoplasm of placenta" EXACT []
synonym: "placental cancer" EXACT []
synonym: "placental tumors" EXACT []
synonym: "primary malignant neoplasm of placenta" EXACT []
xref: ICD9CM:181
xref: NCI:C3555
is_a: DOID:363 ! uterine cancer
is_a: DOID:780 ! placenta disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:2024
name: placental choriocarcinoma
def: "A gestational choriocarcinoma that is located_in the placenta. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577684/ "DO"]
synonym: "choriocarcinoma of the placenta" EXACT []
xref: EFO:1000479
xref: NCI:C8893
is_a: DOID:2025 ! gestational choriocarcinoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:2025
name: gestational choriocarcinoma
def: "A choriocarcinoma that develops in the presence of a preceding gestational event. (DO)" [https://en.wikipedia.org/wiki/Gestational_choriocarcinoma "DO"]
synonym: "gestational chorionepithelioma" EXACT []
synonym: "molar pregnancy with choriocarcinoma" EXACT []
xref: NCI:C4646
is_a: DOID:3594 ! choriocarcinoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:203
name: exostosis
def: "A hyperostosis that involves formation of new bone on the surface of preexisting bone. (DO)" [http://en.wikipedia.org/wiki/Exostosis "DO", http://medical-dictionary.thefreedictionary.com/exostosis "DO"]
synonym: "bony outgrowth" EXACT []
synonym: "exostoses" EXACT []
synonym: "orbital exostosis" EXACT []
synonym: "swimmer's exostosis" EXACT []
xref: ICD10CM:M27.8
xref: ICD9CM:726.91
xref: MESH:D005096
xref: NCI:C3029
is_a: DOID:205 ! hyperostosis

[Term]
id: DOID:2030
name: anxiety disorder
alt_id: MIM:607834
def: "A cognitive disorder that involves an excessive, irrational dread of everyday situations. (DO)" [http://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml "DO"]
synonym: "ANXIETY" EXACT []
synonym: "anxiety disorders" EXACT []
synonym: "anxiety neuroses" EXACT []
synonym: "anxiety state" EXACT []
synonym: "HARM AVOIDANCE" NARROW []
synonym: "Neurotic Anxiety State" EXACT []
synonym: "neurotic anxiety states" EXACT []
synonym: "SEROTONIN TRANSPORTER ACTIVITY, INCREASED/DECREASED" RELATED []
xref: EFO:0005230
xref: EFO:0006788
xref: ICD10CM:F41.9
xref: MESH:D001008
xref: NCI:C2878
is_a: DOID:1561 ! cognitive disorder

[Term]
id: DOID:2033
name: communication disorder
def: "A specific developmental disorder that involves specific developmental disorders of speech and language. (DO)" [http://en.wikipedia.org/wiki/Communication_disorder "DO"]
synonym: "Acquired Communication Disorder" EXACT []
synonym: "acquired communication disorders" EXACT []
synonym: "Childhood Communication Disorder" EXACT []
synonym: "childhood communication disorders" EXACT []
synonym: "Communication Disabilities" EXACT []
synonym: "Communication Disability" EXACT []
synonym: "communication disorders" EXACT []
synonym: "Communicative Disorder" EXACT []
synonym: "Communicative Disorders" EXACT []
synonym: "Communicative Dysfunction" EXACT []
synonym: "Communicative Dysfunctions" EXACT []
synonym: "Developmental Communication Disorder" EXACT []
synonym: "Developmental Communication Disorders" EXACT []
synonym: "neurogenic communication disorder" EXACT []
synonym: "neurogenic communication disorders" EXACT []
xref: ICD10CM:F80.9
xref: MESH:D003147
xref: MONDO:0002182
xref: NCI:C2958
is_a: DOID:0060038 ! specific developmental disorder
is_a: DOID:9002320 ! Neurobehavioral Manifestations
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:2034
name: encephalomalacia
def: "A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system. (DO)" [https://en.wikipedia.org/wiki/Cerebral_softening "DO"]
synonym: "Cerebromalacia" EXACT []
synonym: "cerebromalacias" EXACT []
synonym: "Encephalomalacias" EXACT []
synonym: "Multicystic Encephalomalacia" EXACT []
synonym: "multicystic encephalomalacias" EXACT []
xref: EFO:1000915
xref: MESH:D004678
xref: NCI:C98920
is_a: DOID:936 ! brain disease

[Term]
id: DOID:204
name: enthesopathy
def: "A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation. (DO)" [https://en.wikipedia.org/wiki/Enthesopathy "DO", https://www.orthomedctr.com/enthesopathy.php "DO"]
synonym: "enthesopathies" EXACT []
xref: EFO:0009666
xref: ICD9CM:726.90
xref: MESH:D000070676
is_a: DOID:65 ! connective tissue disease
is_a: DOID:971 ! tendinitis

[Term]
id: DOID:2043
name: hepatitis B
alt_id: MIM:610424
def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice. (DO)" [http://en.wikipedia.org/wiki/Hepatitis_B#Transmission "DO", http://www.cdc.gov/hepatitis/HBV/index.htm "DO", http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf "DO"]
synonym: "HBV, resistance to" RELATED []
synonym: "HBV, susceptibility to" RELATED []
synonym: "hepatitis B infection" EXACT []
synonym: "hepatitis B virus infection" EXACT []
synonym: "hepatitis B virus, resistance to" RELATED []
synonym: "hepatitis B virus, susceptibility to" RELATED []
synonym: "serum hepatitis" RELATED []
xref: EFO:0004197
xref: MESH:D006509
xref: NCI:C3097
is_a: DOID:9004126 ! Hepadnaviridae Infections
is_a: DOID:9007329 ! Human Viral Hepatitis

[Term]
id: DOID:2044
name: drug-induced hepatitis
alt_id: RDO:0007743
def: "Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite." [MESH:D056487]
synonym: "chronic hepatitis, drug-induced" EXACT []
synonym: "chronic hepatitis, drug-related" EXACT []
synonym: "Drug-Induced Hepatitides" EXACT []
synonym: "Drug-Induced Liver Injury, Chronic" EXACT []
xref: EFO:1000905
xref: MESH:D056487
is_a: DOID:9007383 ! Chemical and Drug Induced Liver Injury
is_a: DOID:9008510 ! Chronic Hepatitis

[Term]
id: DOID:2047
name: hepatitis D
def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. (DO)" [http://www.cdc.gov/hepatitis/HDV/index.htm "DO", http://www.who.int/csr/disease/hepatitis/whocdscsrncs20011/en/index3.html "DO"]
synonym: "Amazon Black Fever" EXACT []
synonym: "Delta Hepatitides" EXACT []
synonym: "Delta Hepatitis" EXACT []
synonym: "Delta Infection" EXACT []
synonym: "Delta Infections" EXACT []
synonym: "Delta Superinfection" EXACT []
synonym: "Delta Superinfections" EXACT []
synonym: "HDV" EXACT []
synonym: "hepatitis D virus infection" EXACT []
synonym: "Labrea Disease" EXACT []
synonym: "Labrea Diseases" EXACT []
xref: EFO:0007304
xref: MESH:D003699
is_a: DOID:9002150 ! RNA Virus Infections
is_a: DOID:9007329 ! Human Viral Hepatitis
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:2048
name: autoimmune hepatitis
def: "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. (DO)" [http://en.wikipedia.org/wiki/Autoimmune_hepatitis "DO"]
synonym: "autoimmune chronic active hepatitis" EXACT []
synonym: "autoimmune chronic hepatitides" EXACT []
synonym: "Autoimmune Chronic Hepatitis" EXACT []
synonym: "autoimmune hepatitides" EXACT []
synonym: "autoimmune hepatitis with centrilobular necrosis" EXACT []
xref: EFO:0005676
xref: GARD:5871
xref: ICD10CM:K75.4
xref: ICD9CM:571.42
xref: MESH:D019693
xref: NCI:C27029
xref: NCI:C27778
is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract
is_a: DOID:9008510 ! Chronic Hepatitis

[Term]
id: DOID:205
name: hyperostosis
def: "A bone remodeling disease that results in an abnormal growth of located in bone. (DO)" [http://en.wikipedia.org/wiki/Hyperostosis "DO"]
synonym: "Bone Hypertrophies" EXACT []
synonym: "Bone Hypertrophy" EXACT []
synonym: "Hyperostoses" EXACT []
synonym: "hypertrophy of bone" EXACT []
xref: ICD10CM:M89.3
xref: MESH:D015576
xref: NCI:C34712
is_a: DOID:0080005 ! bone remodeling disease

[Term]
id: DOID:2050
name: acute maxillary sinusitis
def: "A maxillary sinusitis which lasts for less than 4 weeks. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"]
synonym: "acute antritis" EXACT []
xref: ICD10CM:J01.0
xref: ICD10CM:J01.00
xref: ICD9CM:461.0
is_a: DOID:2051 ! maxillary sinusitis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:2051
name: maxillary sinusitis
def: "A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"]
synonym: "Maxillary Sinusitides" EXACT []
xref: EFO:0007361
xref: ICD10CM:J32.0
xref: MESH:D015523
xref: NCI:C34809
is_a: DOID:0050127 ! sinusitis

[Term]
id: DOID:2053
name: reactive cutaneous fibrous lesion
xref: EFO:1000759
xref: NCI:C27549
xref: RDO:9003685
is_a: DOID:37 ! skin disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2055
name: post-traumatic stress disorder
def: "An anxiety disorder which results from a traumatic experience that results in psychological trauma. (DO)" [http://en.wikipedia.org/wiki/Post-traumatic_stress_disorder "DO"]
synonym: "acute post traumatic stress disorder" EXACT []
synonym: "chronic post traumatic stress disorder" EXACT []
synonym: "delayed onset post traumatic stress disorder" EXACT []
synonym: "post-traumatic neuroses" EXACT []
synonym: "posttraumatic neuroses" EXACT []
synonym: "posttraumatic stress disorder" EXACT []
synonym: "posttraumatic stress disorders" EXACT []
synonym: "PTSD" EXACT []
synonym: "traumatic neurosis" EXACT []
xref: EFO:0001358
xref: ICD10CM:F43.1
xref: ICD9CM:309.81
xref: MESH:D013313
xref: NCI:C3389
is_a: DOID:2030 ! anxiety disorder
is_a: DOID:6088 ! acute stress disorder

[Term]
id: DOID:2058
name: chronic mucocutaneous candidiasis
def: "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. (DO)" [http://www.merck.com/mmpe/sec13/ch164/ch164f.html?qt=Chronic%20mucocutaneous%20candidiasis&alt=sh "DO"]
synonym: "chronic mucocutaneous candidiases" EXACT []
synonym: "familial candidiasis, recessive" NARROW []
synonym: "familial chronic mucocutaneous candidiasis, autosomal recessive" NARROW []
xref: GARD:12313
xref: MESH:D002178
xref: MIM:PS114580
xref: NCI:C34444
xref: ORDO:1334
is_a: DOID:1508 ! candidiasis
is_a: DOID:1563 ! dermatomycosis
is_a: DOID:4123 ! nail disease

[Term]
id: DOID:2059
name: vulvar disease
def: "A female reproductive system disease that is located_in the vulva. (DO)" [https://en.wikipedia.org/wiki/Vulvar_disease "DO"]
synonym: "vulvar diseases" EXACT []
xref: MESH:D014845
xref: NCI:C27631
is_a: DOID:229 ! female reproductive system disease

[Term]
id: DOID:206
name: hereditary multiple exostoses
def: "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. (DO)" [http://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html "DO", http://en.wikipedia.org/wiki/Hereditary_multiple_exostoses "DO", http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses "DO", http://www.mheresearchfoundation.org/ "DO", http://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis "DO"]
synonym: "Bessel-Hagen disease" EXACT []
synonym: "diaphyseal aclases" EXACT []
synonym: "Diaphyseal Aclasis" EXACT []
synonym: "Familial Exostoses" EXACT []
synonym: "Familial Exostosis" EXACT []
synonym: "Hereditary Deforming Chondrodysplasia" EXACT []
synonym: "Hereditary Deforming Chondrodysplasias" EXACT []
synonym: "Hereditary Multiple Exostosis" EXACT []
synonym: "HEREDITARY MULTIPLE OSTEOCHONDROMATOSIS" EXACT []
synonym: "multiple cartilaginous exostoses" EXACT []
synonym: "Multiple Cartilaginous Exostosis" EXACT []
synonym: "multiple congenital exostosis" EXACT []
synonym: "Multiple Exostoses" EXACT []
synonym: "Multiple Exostosis" EXACT []
synonym: "multiple exostosis syndromes" EXACT []
synonym: "multiple ostechondromas" EXACT []
synonym: "Multiple Osteochondroma" EXACT []
synonym: "multiple osteochondromas" EXACT []
synonym: "multiple osteochondromatosis" EXACT []
synonym: "osteochondromatosis syndrome" EXACT []
xref: EFO:0005560
xref: ICD10CM:Q78.6
xref: MESH:D005097
xref: NCI:C5183
xref: ORDO:321
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:203 ! exostosis
is_a: DOID:9005285 ! Osteochondromatosis
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:2060
name: vulvar nodular hidradenoma
def: "A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells. (DO)" [http://www.pathologyoutlines.com/topic/skintumornonmelanocyticeccrineacrospiroma.html "DO"]
xref: NCI:C40312
is_a: DOID:0060109 ! vulvar benign neoplasm

[Term]
id: DOID:2061
name: nodular hidradenoma
synonym: "eccrine nodular hidradenoma" EXACT []
is_a: DOID:3896 ! hidradenoma

[Term]
id: DOID:2064
name: vulvar syringoma
def: "A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching. (DO)" [https://en.wikipedia.org/wiki/Syringoma "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588787/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190724/ "DO"]
xref: NCI:C40311
is_a: DOID:0060109 ! vulvar benign neoplasm

[Term]
id: DOID:2065
name: syringoma
def: "A benign tumor of the sweat glands which is usually multiple and results from malformation of sweat ducts. It is uncommon and more common in females than in males. It is most likely to appear at adolescence, and further lesions may develop during adult life. It does not appear to be hereditary. (Rook et al., Textbook of Dermatology, 4th ed, pp2407-8)" [MESH:D018252]
synonym: "syringomas" EXACT []
xref: GARD:10547
xref: ICDO:8407/0
xref: MESH:D018252
xref: NCI:C3761
is_a: DOID:2664 ! sweat gland benign neoplasm
is_a: DOID:5443 ! clear cell hidradenoma

[Term]
id: DOID:2066
name: vulvar angiokeratoma
def: "A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228019/ "DO"]
synonym: "Fordyce angiokeratoma of vulva" EXACT [SNOMEDCT_2005_07_31:402841001]
xref: NCI:C8596
xref: RDO:9004810
is_a: DOID:0060109 ! vulvar benign neoplasm
is_a: DOID:664 ! angiokeratoma of Fordyce
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:2068
name: Bartholin's gland benign neoplasm
synonym: "Bartholin gland neoplasm" EXACT []
synonym: "tumor of Bartholin's gland" EXACT []
xref: MONDO:0002193
xref: NCI:C6434
is_a: DOID:0060088 ! vestibular gland benign neoplasm
is_a: DOID:60002 ! Bartholin's gland disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:2071
name: vulvar squamous papilloma
xref: NCI:C6376
is_a: DOID:2072 ! vulvar squamous tumor
is_a: DOID:2615 ! papilloma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2072
name: vulvar squamous tumor
def: "A vulva cancer that has_material_basis_in squamous tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24342664 "DO"]
xref: NCI:C40283
xref: RDO:9003863
is_a: DOID:1245 ! vulva cancer
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2073
name: perinatal intestinal perforation
xref: ICD10CM:P78.0
xref: ICD9CM:777.6
is_a: DOID:2074 ! intestinal perforation
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:2074
name: intestinal perforation
def: "Opening or penetration through the wall of the INTESTINES." [MESH:D007416]
synonym: "intestinal perforations" EXACT []
synonym: "perforation of intestine" EXACT []
xref: EFO:1000987
xref: ICD9CM:569.83
xref: MESH:D007416
xref: NCI:C39611
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:2075
name: minor vestibular glands adenoma
def: "A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. (DO)" [http://atlasgeneticsoncology.org/Tumors/VulVaginaCarcID5274.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/14714720 "DO"]
synonym: "adenoma of minor vestibular glands" EXACT []
xref: NCI:C40301
is_a: DOID:0060088 ! vestibular gland benign neoplasm
is_a: DOID:0060109 ! vulvar benign neoplasm
is_a: DOID:2076 ! vulvar glandular tumor
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:2076
name: vulvar glandular tumor
def: "A vulva cancer that has_material_basis_in glandular tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24342664 "DO"]
xref: NCI:C40292
xref: RDO:9003865
is_a: DOID:1245 ! vulva cancer
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2078
name: chondroid syringoma of the vulva
xref: NCI:C40302
is_a: DOID:0060109 ! vulvar benign neoplasm
is_a: DOID:2065 ! syringoma
is_a: DOID:2079 ! eccrine mixed tumor of skin
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:2079
name: eccrine mixed tumor of skin
synonym: "eccrine mixed tumor" EXACT []
synonym: "eccrine mixed tumour" EXACT []
synonym: "eccrine mixed tumour of skin" EXACT []
synonym: "mixed eccrine neoplasm of the skin" EXACT []
xref: EFO:1000385
xref: NCI:C4474
is_a: DOID:173 ! eccrine sweat gland neoplasm
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:2080
name: vulvar trichoepithelioma
def: "A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236999/ "DO"]
xref: NCI:C40314
is_a: DOID:0060109 ! vulvar benign neoplasm

[Term]
id: DOID:2092
name: transient arthritis
xref: ICD10CM:M12.8
xref: ICD9CM:716.4
xref: NCI:C35761
is_a: DOID:381 ! arthropathy
is_a: DOID:848 ! arthritis
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:2093
name: vulvar melanoma
def: "A vulva cancer that has_material_basis_in melanocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514586/ "DO"]
synonym: "malignant melanoma of vulva" EXACT []
xref: NCI:C40329
is_a: DOID:1245 ! vulva cancer
is_a: DOID:8923 ! skin melanoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2095
name: sweat gland cancer
synonym: "malignant neoplasm of sweat gland" EXACT []
synonym: "malignant tumor of the sweat gland" EXACT []
xref: NCI:C4810
is_a: DOID:4159 ! skin cancer
is_a: DOID:9007274 ! Sweat Gland Neoplasms
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:2096
name: vulvar sarcoma
def: "A vulva cancer that has_material_basis_in connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25816393 "DO"]
synonym: "sarcoma of vulva" EXACT []
xref: EFO:0002920
xref: NCI:C40317
is_a: DOID:1115 ! sarcoma
is_a: DOID:1245 ! vulva cancer

[Term]
id: DOID:2097
name: vulval Paget's disease
def: "A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26971063 "DO"]
synonym: "Paget's disease of vulva" EXACT []
synonym: "vulval Paget disease" EXACT []
synonym: "vulvar Paget's disease" EXACT []
xref: NCI:C4027
is_a: DOID:2098 ! vulva adenocarcinoma
is_a: DOID:3450 ! cutaneous Paget's disease
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:2098
name: vulva adenocarcinoma
def: "A vulva carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of the vulva" EXACT []
synonym: "adenocarcinoma of vulva" EXACT []
xref: NCI:C6380
is_a: DOID:1294 ! vulva carcinoma
is_a: DOID:299 ! adenocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:210
name: heel spur
def: "An exostosis that results_in an abnormal growth located_in calcaneus. (DO)" [http://en.wikipedia.org/wiki/Calcaneal_spur "DO", http://www.medterms.com/script/main/art.asp?articlekey=7094 "DO"]
synonym: "Calcaneal Spur" EXACT []
synonym: "Calcaneal Spurs" EXACT []
synonym: "Heel Spurs" EXACT []
xref: ICD10CM:M77.3
xref: ICD9CM:726.73
xref: MESH:D036982
is_a: DOID:203 ! exostosis
is_a: DOID:9007310 ! Foot Diseases

[Term]
id: DOID:2101
name: vulva squamous cell carcinoma
def: "A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO", http://en.wikipedia.org/wiki/Vulvar_cancer#Squamous_cell_carcinoma "DO"]
synonym: "squamous cell carcinoma of vulva" EXACT []
synonym: "vulvar epidermoid carcinoma" EXACT []
synonym: "vulvar squamous cell carcinoma" EXACT []
xref: EFO:1000624
xref: NCI:C4052
xref: ORDO:494448
is_a: DOID:1294 ! vulva carcinoma
is_a: DOID:1749 ! squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:2106
name: myotonia congenita
def: "A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres. (DO)" [http://rarediseases.org/rare-diseases/myotonia-congenita/ "DO", http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=614 "DO", https://medlineplus.gov/genetics/condition/myotonia-congenita/ "DO"]
synonym: "Batten Turner congenital myopathy" EXACT []
synonym: "Congenital Myotonia" EXACT []
synonym: "Generalized Myotonia" EXACT []
synonym: "Generalized Myotonias" EXACT []
synonym: "myotonia levior" EXACT []
synonym: "MYOTONIA WITH WARM-UP PHENOMENON" NARROW []
synonym: "Thomsen and Becker disease" EXACT []
xref: GARD:12301
xref: ICD9CM:359.22
xref: MESH:D009224
xref: NCI:C84912
xref: ORDO:614
is_a: DOID:0080015 ! physical disorder
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:450 ! myotonic disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:2112
name: cystoisosporiasis
def: "A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss. (DO)" [http://www.dpd.cdc.gov/DPDx/HTML/Cystoisosporiasis.htm "DO"]
synonym: "infection by Isospora belli and Isospora hominis" EXACT []
synonym: "isosporiases" EXACT []
synonym: "isosporiasis" EXACT []
synonym: "isosporosis" EXACT []
xref: EFO:0007232
xref: ICD10CM:A07.3
xref: MESH:D021865
xref: NCI:C4076
is_a: DOID:2113 ! coccidiosis

[Term]
id: DOID:2113
name: coccidiosis
def: "A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. (DO)" [http://en.wikipedia.org/wiki/Coccidiosis "DO"]
synonym: "besnoitiases" EXACT []
synonym: "Besnoitiasis" EXACT []
synonym: "Besnoitioses" EXACT []
synonym: "Besnoitiosis" EXACT []
synonym: "coccidioses" EXACT []
synonym: "intestinal coccidiosis" RELATED []
xref: EFO:0007212
xref: MESH:D003048
xref: NCI:C34493
is_a: DOID:2789 ! parasitic protozoa infectious disease

[Term]
id: DOID:2115
name: B cell deficiency
def: "A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2601718/pdf/nihms57213.pdf "DO", http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#WhatisPrimaryImmunodeficiency "DO"]
synonym: "B cell (antibody) deficiencies" EXACT []
synonym: "immunoglobulin heavy chain deficiency" EXACT []
synonym: "immunoglobulin heavy chain deletion" EXACT []
xref: ICD9CM:279.03
is_a: DOID:612 ! primary immunodeficiency disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:2120
name: focal dermal hypoplasia
alt_id: MIM:305600
def: "A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23. (DO)" [https://rarediseases.info.nih.gov/diseases/6457/disease "DO"]
synonym: "DHOF" EXACT []
synonym: "FDH" EXACT []
synonym: "focal dermal hypoplasias" EXACT []
synonym: "FODH" EXACT []
synonym: "Goltz's Syndrome" EXACT []
synonym: "Goltz-Gorlin syndrome" EXACT []
synonym: "Goltzs syndrome" EXACT []
synonym: "Goltz syndrome" EXACT []
synonym: "PORCN-RELATED CONDITION" EXACT []
xref: GARD:6457
xref: MESH:D005489
xref: NCI:C84715
xref: ORDO:2092
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:1934 ! dysostosis
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:2121
name: ectodermal dysplasia
alt_id: OMIA:000323
def: "A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. (DO)" [https://en.wikipedia.org/wiki/Ectodermal_dysplasia "DO", https://medlineplus.gov/ency/article/001469.htm "DO", https://www.omim.org/entry/305100 "DO"]
synonym: "ACC" EXACT []
synonym: "anhidrotic ectodermal dysplasia" EXACT []
synonym: "anhidrotic ectodermal dysplasias" EXACT []
synonym: "anhydrotic ectodermal dysplasia" EXACT []
synonym: "anhydrotic ectodermal dysplasias" EXACT []
synonym: "aplasia cutis congenita" EXACT []
synonym: "congenital ectodermal defect" EXACT []
synonym: "congenital ectodermal defects" EXACT []
synonym: "congenital ectodermal dysplasia" EXACT []
synonym: "ectodermal dysplasias" EXACT []
synonym: "hidrotic ectodermal dysplasia" EXACT []
synonym: "hidrotic ectodermal dysplasias" EXACT []
synonym: "hydrotic ectodermal dysplasia" EXACT []
synonym: "hydrotic ectodermal dysplasias" EXACT []
synonym: "hypohidrotic ectodermal dysplasia, dominant" NARROW []
synonym: "hypohidrotic ectodermal dysplasia, recessive" NARROW []
xref: GARD:6317
xref: ICD9CM:757.31
xref: MESH:D004476
xref: MIM:PS305100
xref: NCI:C84683
xref: ORDO:79373
is_a: DOID:225 ! syndrome
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:2122
name: pneumonic tularemia
def: "A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing. (DO)" [http://www.cdc.gov/tularemia/signssymptoms/ "DO"]
synonym: "bronchopneumonic tularemia" EXACT []
synonym: "pneumonic tularaemia" EXACT []
synonym: "pulmonary tularemia" EXACT []
xref: ICD10CM:A21.2
xref: ICD9CM:021.2
is_a: DOID:2123 ! tularemia
is_a: DOID:9008559 ! Bacterial Lung Diseases
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:2123
name: tularemia
def: "A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues. (DO)" [http://www.cdc.gov/tularemia/index.html "DO"]
synonym: "Francisella tularensis infection" EXACT []
synonym: "Francisella tularensis infections" EXACT []
synonym: "tularemias" EXACT []
xref: EFO:1001444
xref: GARD:396
xref: ICD9CM:021.8
xref: MESH:D014406
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:2127
name: brain germinoma
def: "A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells. (DO)" [https://en.wikipedia.org/wiki/Germinoma "DO"]
synonym: "germinoma of the brain" EXACT []
synonym: "intracranial germinoma" EXACT []
xref: NCI:C6284
is_a: DOID:1319 ! brain cancer
is_a: DOID:4438 ! central nervous system germinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:2129
name: atypical teratoid rhabdoid tumor
alt_id: MIM:609322
def: "A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. (DO)" [http://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor "DO"]
synonym: "AT/RT" NARROW []
synonym: "ATRT" EXACT []
synonym: "atypical teratoid/rhabdoid tumour" EXACT []
synonym: "atypical teratoid tumor" EXACT []
synonym: "Brain Tumor, Posterior Fossa, of Infancy, Familial" EXACT []
synonym: "BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL  MALIGNANT RHABDOID TUMOR, SOMATIC" NARROW []
synonym: "Malignant Rhabdoid Tumor, Somatic" EXACT []
synonym: "RDT" NARROW []
synonym: "rhabdoid tumor of the CNS" EXACT []
synonym: "rhabdoid tumor predisposition syndrome" RELATED []
synonym: "rhabdoid tumor predisposition syndrome 1" EXACT []
synonym: "rhabdoid tumour of the CNS" EXACT []
synonym: "RTPS1" EXACT []
xref: EFO:1002008
xref: ICDO:9508/3
xref: MESH:C563737
xref: MESH:C563738
xref: NCI:C6906
xref: ORDO:99966
is_a: DOID:1319 ! brain cancer
is_a: DOID:3307 ! teratoma
is_a: DOID:3672 ! rhabdoid cancer

[Term]
id: DOID:2132
name: brain sarcoma
def: "A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12170093 "DO"]
synonym: "sarcoma of the brain" EXACT []
xref: MONDO:0002216
xref: NCI:C5154
is_a: DOID:1319 ! brain cancer
is_a: DOID:2133 ! central nervous system sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:2133
name: central nervous system sarcoma
def: "A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm. (DO)" [https://en.wikipedia.org/wiki/Sarcoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/12170093 "DO"]
synonym: "sarcoma of the CNS" EXACT []
xref: NCI:C5153
is_a: DOID:1115 ! sarcoma
is_a: DOID:3620 ! central nervous system cancer
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:2135
name: temporal lobe neoplasm
synonym: "malignant neoplasm of temporal lobe" EXACT []
synonym: "neoplasm of temporal lobe" EXACT []
synonym: "tumor of temporal lobe" EXACT []
xref: ICD10CM:C71.2
xref: ICD9CM:191.2
xref: NCI:C5567
is_a: DOID:368 ! cerebrum cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:2139
name: paraurethral gland neoplasm
synonym: "neoplasm of paraurethral glands" EXACT []
synonym: "tumor of the paraurethral gland" EXACT []
is_a: DOID:730 ! urethral benign neoplasm
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:214
name: teeth hard tissue disease
xref: ICD10CM:K03.8
xref: ICD10CM:K03.89
xref: ICD9CM:521.8
xref: RDO:9004412
is_a: DOID:1091 ! tooth disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:2140
name: urethral urothelial papilloma
xref: NCI:C5061
is_a: DOID:730 ! urethral benign neoplasm
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:2142
name: urethra leiomyoma
def: "An urethral benign neoplasm that derives_from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141528/ "DO"]
synonym: "leiomyoma of the urethra" EXACT []
xref: NCI:C6171
is_a: DOID:127 ! leiomyoma
is_a: DOID:730 ! urethral benign neoplasm
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:2143
name: ovarian malignant mesothelioma
def: "An ovarian cancer that derives_from mesothelial tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8764743 "DO"]
xref: NCI:C40444
is_a: DOID:2394 ! ovarian cancer
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:2145
name: malignant ovarian cyst
def: "An ovarian cancer that is characterized by cystic structure. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23627408 "DO"]
xref: NCI:C3843
xref: RDO:9001881
is_a: DOID:2394 ! ovarian cancer
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:2146
name: ovary sarcoma
def: "An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21740740 "DO"]
synonym: "sarcoma of ovary" EXACT []
xref: NCI:C8267
is_a: DOID:1115 ! sarcoma
is_a: DOID:2394 ! ovarian cancer
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:2148
name: tuberculous oophoritis
def: "An urogenital tuberculosis that results_in inflammtion located_in ovary. (DO)" [https://www1.cgmh.org.tw/intr/intr5/c6700/OBGYN/f/web/Oophoritis/index.htm "DO"]
is_a: DOID:1100 ! ovarian disease
is_a: DOID:2149 ! urogenital tuberculosis

[Term]
id: DOID:2149
name: urogenital tuberculosis
def: "An extrapulmonary tuberculosis that is located_in urogenital system. (DO)" [http://en.wikipedia.org/wiki/Urogenital_tuberculosis "DO"]
synonym: "genitourinary tuberculosis" EXACT []
synonym: "urogenital tuberculoses" EXACT []
xref: EFO:0007531
xref: ICD10CM:A18.1
xref: ICD9CM:016
xref: MESH:D014401
is_a: DOID:0050598 ! extrapulmonary tuberculosis
is_a: DOID:9009146 ! Urogenital Diseases

[Term]
id: DOID:2150
name: ovarian lymphoma
def: "An ovarian cancer that arises_from lymphocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23905454 "DO"]
xref: NCI:C40021
is_a: DOID:0060058 ! lymphoma
is_a: DOID:2394 ! ovarian cancer
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:2151
name: malignant ovarian surface epithelial-stromal neoplasm
def: "An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary. (DO)" [https://www.sciencedirect.com/science/article/pii/0046817791902054 "DO"]
xref: NCI:C40026
is_a: DOID:2152 ! ovary epithelial cancer
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:2152
name: ovary epithelial cancer
def: "An ovarian cancer that is derives_from ovarian surface epithelium. (DO)" [http://en.wikipedia.org/wiki/Ovarian_cancer "DO", http://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor "DO"]
synonym: "epithelial tumor of ovary" EXACT []
synonym: "ovarian epithelial cancer" EXACT []
synonym: "ovarian surface epithelial-stromal tumor" EXACT []
xref: MESH:C538090
xref: NCI:C4381
is_a: DOID:2394 ! ovarian cancer
is_a: DOID:305 ! carcinoma
is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms

[Term]
id: DOID:2153
name: ovarian Wilms' cancer
def: "A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18260155 "DO"]
synonym: "ovarian Wilms' tumor" EXACT []
xref: NCI:C40443
is_a: DOID:2394 ! ovarian cancer
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:2154
name: nephroblastoma
alt_id: MIM:194070
def: "A kidney cancer that affects the kidneys and typically located_in children. (DO)" [http://en.wikipedia.org/wiki/Wilms%27_tumor "DO"]
synonym: "adult nephroblastoma" EXACT []
synonym: "adult renal Wilms' tumor" EXACT []
synonym: "bilateral Wilms tumor" EXACT []
synonym: "childhood renal Wilms' cancer" EXACT []
synonym: "childhood renal Wilms tumor" RELATED []
synonym: "nephroblastomas" EXACT []
synonym: "renal Wilms tumor" EXACT []
synonym: "Wilm's tumor" EXACT []
synonym: "Wilms tumor" EXACT []
synonym: "Wilms tumor 1" EXACT []
synonym: "Wilms tumor, somatic" RELATED []
synonym: "Wilms tumor, susceptibility to" RELATED []
synonym: "Wilm tumor" EXACT []
synonym: "WT1" EXACT []
xref: EFO:0000212
xref: EFO:1000626
xref: ICDO:8960/3
xref: ICD-O:M8960/3
xref: MESH:D009396
xref: MIM:PS194070
xref: MONDO:0006058
xref: NCI:C158786
xref: NCI:C27730
xref: NCI:C3267
xref: NCI:C40407
xref: NCI:C60478
xref: NCI:C6180
is_a: DOID:263 ! kidney cancer
is_a: DOID:9003765 ! Complex and Mixed Neoplasms
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:2155
name: malignant ovarian germ cell neoplasm
synonym: "malignant germ cell tumor of ovary" EXACT []
synonym: "malignant ovarian germ cell tumor" EXACT []
xref: NCI:C4514
is_a: DOID:2156 ! ovarian germ cell cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:2156
name: ovarian germ cell cancer
alt_id: MIM:603737
def: "An ovarian cancer that originates in the germ (egg) cells of the ovary. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/ovarian-germ-cell/Patient "DO"]
synonym: "germ cell neoplasm of ovary" EXACT []
synonym: "germ cell tumor of ovary" EXACT []
synonym: "ovarian germ cell tumor" RELATED []
xref: EFO:1000419
xref: GARD:9330
xref: MESH:C562841
xref: NCI:C3873
is_a: DOID:2394 ! ovarian cancer
is_a: DOID:2994 ! germ cell cancer

[Term]
id: DOID:216
name: dental caries
def: "A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel. (DO)" [https://www.nidcr.nih.gov/health-info/tooth-decay "DO"]
synonym: "Carious Dentin" EXACT []
synonym: "Dental caries extending into pulp" EXACT []
synonym: "Dental caries of smooth surface" EXACT []
synonym: "Dental caries pit and fissure" EXACT []
synonym: "Dental Decay" EXACT []
synonym: "Dental White Spot" EXACT []
synonym: "dental white spots" EXACT []
synonym: "smooth surface dental caries" NARROW []
synonym: "White Spot" EXACT []
synonym: "white spots" EXACT []
xref: EFO:0003819
xref: EFO:0006338
xref: EFO:0006339
xref: EFO:0600096
xref: ICD10CM:K02.6
xref: ICD10CM:K02.9
xref: ICD9CM:521.0
xref: ICD9CM:521.07
xref: MESH:D003731
xref: NCI:C52593
is_a: DOID:214 ! teeth hard tissue disease
is_a: DOID:9004003 ! Tooth Demineralization

[Term]
id: DOID:2163
name: nasal cavity disease
xref: NCI:C27102
is_a: DOID:2825 ! nose disease

[Term]
id: DOID:217
name: enamel caries
synonym: "dental caries limited to enamel" EXACT []
synonym: "primary dental caries" EXACT []
synonym: "simple dental cavity" EXACT []
xref: EFO:0600095
xref: ICD9CM:521.01
is_a: DOID:216 ! dental caries
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:2170
name: vaginitis
def: "A vaginal disease that is characterized by inflammation of the vagina. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21524046 "DO"]
synonym: "Vaginitides" EXACT []
xref: EFO:0005757
xref: ICD9CM:616.1
xref: MESH:D014627
xref: NCI:C26911
is_a: DOID:121 ! vaginal disease

[Term]
id: DOID:2173
name: eyelid benign neoplasm
def: "Tumors of cancer of the EYELIDS." [MESH:D005142]
synonym: "eyelid neoplasm" BROAD []
synonym: "eyelid neoplasms" BROAD []
synonym: "tumor of the eyelid" BROAD []
xref: EFO:1000934
xref: MESH:D005142
xref: NCI:C3031
is_a: DOID:0060096 ! sensory organ benign neoplasm
is_a: DOID:3165 ! skin benign neoplasm
is_a: DOID:530 ! eyelid disease
is_a: DOID:9004059 ! Eye Neoplasms
is_a: DOID:9007009 ! Facial Neoplasms

[Term]
id: DOID:2174
name: ocular cancer
def: "A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. (DO)" [http://en.wikipedia.org/wiki/Eye "DO", http://en.wikipedia.org/wiki/Eye_neoplasm "DO"]
synonym: "cancer of eye" EXACT []
synonym: "cancer of the eye" EXACT []
synonym: "eye cancer" EXACT []
synonym: "eye cancers" EXACT []
synonym: "malignant eye neoplasm" EXACT []
xref: ICD9CM:190.8
xref: NCI:C3030
is_a: DOID:0060116 ! sensory system cancer
is_a: DOID:9004059 ! Eye Neoplasms
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:2176
name: carbuncle
def: "An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is STAPHYLOCOCCUS AUREUS. Carbuncles produce fever, leukocytosis, extreme pain, and prostration." [MESH:D002270]
synonym: "carbuncle and furuncle of any part of face except eye" EXACT []
synonym: "carbuncle and furuncle of buttock" EXACT []
synonym: "carbuncle and furuncle of face" EXACT []
synonym: "carbuncle and furuncle of foot" EXACT []
synonym: "carbuncle and furuncle of gluteal region" EXACT []
synonym: "carbuncle and furuncle of hand" EXACT []
synonym: "carbuncle and furuncle of leg except foot" EXACT []
synonym: "carbuncle and furuncle of neck" EXACT []
synonym: "carbuncle and furuncle of trunk" EXACT []
synonym: "carbuncle and furuncle of upper arm and forearm" EXACT []
synonym: "carbuncles" EXACT []
xref: EFO:1000674
xref: ICD9CM:680.9
xref: MESH:D002270
is_a: DOID:4223 ! pyoderma
is_a: DOID:9002053 ! Furunculosis

[Term]
id: DOID:218
name: ascending colon cancer
synonym: "Ca ascending colon" EXACT []
synonym: "malignant neoplasm of right colon" EXACT []
synonym: "malignant tumor of ascending colon" EXACT []
xref: ICD10CM:C18.2
xref: ICD9CM:153.6
xref: RDO:9002025
is_a: DOID:219 ! colon cancer
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:2181
name: post-surgical hypoinsulinemia
synonym: "postsurgical hypoinsulinemia" EXACT []
xref: ICD10CM:E89.1
xref: ICD9CM:251.3
is_a: DOID:1428 ! endocrine pancreas disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:2187
name: amelogenesis imperfecta
alt_id: OMIA:002015
def: "A dental enamel hypoplasia characterized by abnormal enamel formation. (DO)" [http://en.wikipedia.org/wiki/Amelogenesis_imperfecta "DO", http://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/501/viewAbstract "DO"]
synonym: "AMELOGENESIS IMPERFECTA TYPE 1" NARROW []
synonym: "congenital enamel hypoplasia" EXACT []
synonym: "dental hypomineralization" RELATED []
xref: GARD:5791
xref: MESH:D000567
xref: MIM:PS104500
xref: ORDO:88661
is_a: DOID:693 ! dental enamel hypoplasia

[Term]
id: DOID:219
name: colon cancer
def: "A colorectal cancer that is located_in the colon. (DO)" [http://www.cancer.gov/dictionary?CdrID=44237 "DO", https://www.genome.gov/Genetic-Disorders/Colon-Cancer "DO"]
synonym: "cancer of colon" EXACT []
synonym: "cancer of the colon" EXACT []
synonym: "COLON CANCER, ADVANCED" NARROW []
synonym: "Colon Cancers" EXACT []
synonym: "COLON CANCER, SUSCEPTIBILITY TO" RELATED []
synonym: "colonic cancer" EXACT []
synonym: "colonic cancers" EXACT []
synonym: "malignant tumor of colon" EXACT []
xref: ICD10CM:C18
xref: ICD9CM:153
xref: NCI:C9242
is_a: DOID:9002928 ! Colonic Neoplasms
is_a: DOID:9256 ! colorectal cancer
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:221
name: acute perichondritis of pinna
def: "A perichondritis of auricle with a sudden onset and a short course. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm "DO"]
xref: ICD9CM:380.01
xref: RDO:9004463
is_a: DOID:222 ! perichondritis of auricle
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:2211
name: factor XIII deficiency
def: "A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor. (DO)" [http://omim.org/entry/613225 "DO", http://omim.org/entry/613235 "DO", https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency#inheritance "DO"]
synonym: "Factor XIII Deficiencies" EXACT []
synonym: "factor XIII deficiency disease" EXACT []
synonym: "hereditary factor XIII deficiency disease" EXACT []
synonym: "Laki-Lorand factor deficiency" EXACT []
xref: GARD:10766
xref: MESH:D005177
xref: NCI:C98941
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:2213
name: hemorrhagic disease
def: "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS)." [MESH:D006474]
synonym: "ABNORMAL BLEEDING" EXACT []
synonym: "hemorrhagic diatheses" EXACT []
synonym: "hemorrhagic diathesis" EXACT []
synonym: "hemorrhagic disorder" EXACT []
synonym: "hemorrhagic disorders" EXACT []
xref: ICD10CM:D69.9
xref: ICD9CM:287.9
xref: MESH:D006474
xref: MONDO:0002243
is_a: DOID:1247 ! blood coagulation disease

[Term]
id: DOID:2215
name: factor VII deficiency
alt_id: MIM:227500
alt_id: OMIA:000361
def: "A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade. (DO)" [http://omim.org/entry/227500 "DO", https://ghr.nlm.nih.gov/condition/factor-vii-deficiency#genes "DO"]
synonym: "CONGENITAL FACTOR VII DEFICIENCY" NARROW []
synonym: "F7 deficiency" EXACT []
synonym: "F7-RELATED CONDITION" BROAD []
synonym: "factor VII deficiencies" EXACT []
synonym: "FACTOR VII PADUA" RELATED []
synonym: "hypoproconvertinemia" EXACT []
synonym: "hypoproconvertinemias" EXACT []
synonym: "stable deficiency" EXACT []
xref: GARD:2238
xref: ICD10CM:D68.2
xref: MESH:D005168
xref: NCI:C131631
xref: ORDO:327
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:2216
name: factor V deficiency
def: "A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. It varies greatly in severity. Factor V deficiency is an autosomal recessive trait. (Dorland, 27th ed)" [MESH:D005166]
synonym: "Factor V Deficiencies" EXACT []
synonym: "hereditary hypoproaccelerinaemia" EXACT []
synonym: "labile deficiency" EXACT []
synonym: "labile factor deficiencies" EXACT []
synonym: "Labile Factor Deficiency" EXACT []
synonym: "Owren's Disease" EXACT []
synonym: "Owren Disease" EXACT []
synonym: "Owren Parahemophilia" EXACT []
synonym: "Owrens Disease" EXACT []
synonym: "Parahemophilia" EXACT []
synonym: "parahemophilias" EXACT []
synonym: "proaccelerin deficiency" EXACT []
xref: GARD:2237
xref: MESH:D005166
xref: MIM:227400
xref: MONDO:0020586
xref: NCI:C98938
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:2217
name: Bernard-Soulier syndrome
alt_id: MIM:231200
def: "A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10706630 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8481514 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8703016 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9616133 "DO"]
synonym: "BDPLT1" EXACT []
synonym: "Bernard-Soulier thrombopathy" EXACT []
synonym: "BSS" EXACT []
synonym: "Deficiency of Platelet Glycoprotein 1b" EXACT []
synonym: "deficiency of platelet glycoprotein Ib" EXACT []
synonym: "Giant Platelet Syndrome" EXACT []
synonym: "giant platelet syndromes" EXACT []
synonym: "hemorrhagic dystrophic thrombocytopenia" EXACT []
synonym: "Platelet Glycoprotein Ib Deficiency" EXACT []
synonym: "platelet-type bleeding disorder 1" EXACT []
synonym: "Von Willebrand factor receptor deficiency" EXACT []
xref: MESH:D001606
xref: NCI:C84595
xref: ORDO:274
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:225 ! syndrome
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:2218
name: blood platelet disease
alt_id: OMIA:001003
def: "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. (DO)" [https://www.merckmanuals.com/home/blood-disorders/platelet-disorders/overview-of-platelet-disorders "DO"]
synonym: "blood platelet disorder" EXACT []
synonym: "blood platelet disorders" EXACT []
synonym: "platelet disorder" EXACT []
synonym: "thrombocytopathies" EXACT []
synonym: "thrombocytopathy" EXACT []
synonym: "Thrombopathia" NARROW []
xref: MESH:D001791
xref: MIM:PS231200
xref: NCI:C131634
is_a: DOID:2213 ! hemorrhagic disease

[Term]
id: DOID:2219
name: Glanzmann's thrombasthenia
alt_id: OMIA:001000
def: "A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16463284 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2014236 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9160670 "DO"]
synonym: "deficiency of GP 2b 3a complex" EXACT []
synonym: "Glanzmann thrombasthenia" EXACT []
synonym: "Glanzmann Thrombasthenia, Type A" EXACT []
synonym: "Glycoprotein Complex IIb IIIa, Deficiency Of" EXACT []
synonym: "glycoprotein IIb/IIIa defect" EXACT []
synonym: "GP IIb IIIa Complex, Deficiency Of" EXACT []
synonym: "GT" EXACT []
synonym: "Platelet Fibrinogen Receptor, Deficiency of" EXACT []
synonym: "Platelet Glycoprotein 2b 3a Deficiency" EXACT []
synonym: "platelet glycoprotein IIb IIIa deficiency" EXACT []
synonym: "platelet-type bleeding disorder 2" EXACT []
synonym: "thrombasthenia" EXACT []
synonym: "thrombasthenia of Glanzmann and Naegeli" EXACT []
synonym: "thrombasthenias" EXACT []
synonym: "thrombocytasthenia" EXACT []
xref: GARD:2478
xref: ICD10CM:D69.1
xref: MESH:D013915
xref: MIM:PS273800
xref: NCI:C61249
xref: ORDO:849
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:222
name: perichondritis of auricle
def: "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. (DO)" [http://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm "DO"]
synonym: "perichondritis and chondritis of pinna" EXACT []
synonym: "perichondritis of pinna" EXACT []
xref: ICD10CM:H61.0
xref: ICD9CM:380.00
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:9463 ! otitis externa
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:2222
name: factor X deficiency
alt_id: MIM:227600
def: "A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood. (DO)" [https://rarediseases.org/rare-diseases/factor-x-deficiency/ "DO"]
synonym: "congenital factor X deficiency" EXACT []
synonym: "congenital Stuart factor deficiency" EXACT []
synonym: "F10 deficiency" EXACT []
synonym: "factor X deficiencies" EXACT []
synonym: "Stuart-Prower deficiency" EXACT []
synonym: "Stuart-Prower disease" EXACT []
synonym: "Stuart Prower factor deficiency" EXACT []
xref: GARD:6404
xref: MESH:D005171
xref: NCI:C131632
xref: ORDO:328
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:2223
name: platelet storage pool deficiency
alt_id: MIM:185050
def: "Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored." [MESH:D010981]
synonym: "Acquired Storage Pool Disease" EXACT []
synonym: "dense body defect" EXACT []
synonym: "Familial Platelet Storage Pool Disease" EXACT []
synonym: "platelet dense granule deficiency" EXACT []
synonym: "platelet storage pool defect" EXACT []
synonym: "Platelet Storage Pool Deficiencies" EXACT []
synonym: "Platelet Storage Pool Disease" EXACT []
synonym: "Storage Pool Deficiencies" EXACT []
synonym: "Storage Pool Deficiency" EXACT []
synonym: "STORAGE POOL DISEASE OF PLATELETS" EXACT []
xref: EFO:1001112
xref: GARD:5034
xref: MESH:D010981
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:2224
name: essential thrombocythemia
alt_id: MIM:187950
def: "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. (DO)" [http://www.webmd.com/a-to-z-guides/thrombocythemia-essential "DO"]
synonym: "autosomal dominant thrombocytoses" EXACT []
synonym: "autosomal dominant thrombocytosis" EXACT []
synonym: "essential thrombocythaemia" EXACT []
synonym: "Essential Thrombocythemias" EXACT []
synonym: "familial essential thrombocythemia" NARROW []
synonym: "familial thrombocytosis" EXACT []
synonym: "Hemorrhagic Thrombocythemia" EXACT []
synonym: "Hemorrhagic Thrombocythemias" EXACT []
synonym: "hereditary thrombocythemia" EXACT []
synonym: "Idiopathic Thrombocythemia" EXACT []
synonym: "Idiopathic Thrombocythemias" EXACT []
synonym: "Primary Thrombocythemia" EXACT []
synonym: "Primary Thrombocythemias" EXACT []
synonym: "primary thrombocytoses" EXACT []
synonym: "primary thrombocytosis" EXACT []
synonym: "THCYT1" EXACT []
synonym: "thrombocythemia 1" EXACT []
synonym: "thrombocytosis 1" EXACT []
xref: EFO:0000479
xref: GARD:6594
xref: ICD10CM:D47.3
xref: ICD9CM:238.71
xref: ICDO:9962/3
xref: MESH:D013920
xref: NCI:C3407
xref: ORDO:3318
xref: ORDO:71493
is_a: DOID:2226 ! myeloproliferative neoplasm
is_a: DOID:2228 ! thrombocytosis

[Term]
id: DOID:2226
name: myeloproliferative neoplasm
def: "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood. (DO)" [http://www.bloodjournal.org/content/114/5/937.long "DO", http://www.cancer.gov/cancertopics/types/myeloproliferative "DO"]
synonym: "chronic myeloproliferative disease" EXACT []
synonym: "Chronic Myeloproliferative Disorder" EXACT []
synonym: "CMPD" EXACT []
synonym: "CMPD, U" EXACT []
synonym: "DDX41-RELATED CONDITION" RELATED []
synonym: "MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO" RELATED []
synonym: "Myeloproliferative Neoplasms" EXACT []
synonym: "MYELOPROLIFERATIVE NEOPLASM, UNCLASSIFIABLE" NARROW []
xref: EFO:0002428
xref: EFO:0004251
xref: ICDO:9960/3
xref: MIM:616871
xref: NCI:C4345
is_a: DOID:0070004 ! myeloid neoplasm
created_by: rgd
creation_date: 2015-12-23T00:00:00Z

[Term]
id: DOID:2228
name: thrombocytosis
def: "A blood platelet disease that is characterized by the presence of high platelet counts in the blood. (DO)" [http://en.wikipedia.org/wiki/Thrombocytosis "DO", http://my.clevelandclinic.org/disorders/thrombocytosis/hic_thrombocytosis.aspx "DO"]
synonym: "thrombocythaemia" EXACT []
synonym: "thrombocythemia" EXACT []
synonym: "thrombocythemias" EXACT []
synonym: "thrombocytoses" EXACT []
xref: ICD10CM:D75.83
xref: MESH:D013922
xref: MIM:PS187950
xref: NCI:C35530
is_a: DOID:0070004 ! myeloid neoplasm
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:2229
name: factor XI deficiency
alt_id: MIM:612416
alt_id: OMIA:000363
def: "A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. (DO)" [https://ghr.nlm.nih.gov/condition/factor-xi-deficiency "DO", https://www.omim.org/entry/612416 "DO"]
synonym: "congenital factor XI deficiency" EXACT []
synonym: "F11 deficiency" EXACT []
synonym: "factor XI deficiencies" EXACT []
synonym: "hemophilia C" EXACT []
synonym: "hereditary factor XI deficiency disease" EXACT []
synonym: "PLASMA FACTOR XI DEFICIENCY" EXACT []
synonym: "plasma thromboplastin antecedent deficiency" EXACT []
synonym: "PTA DEFICIENCY" EXACT []
synonym: "Rosenthal's disease" EXACT []
synonym: "Rosenthal's Syndrome" EXACT []
synonym: "Rosenthals Syndrome" EXACT []
synonym: "Rosenthal syndrome" EXACT []
synonym: "Rosenthal syndromes" EXACT []
xref: GARD:9670
xref: ICD10CM:D68.1
xref: ICD9CM:286.2
xref: MESH:D005173
xref: NCI:C84705
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:223
name: basilar artery insufficiency
synonym: "basilar artery insufficiencies" EXACT []
synonym: "Basilar Artery Ischemia" EXACT []
synonym: "Basilar Artery Ischemias" EXACT []
synonym: "Basilar Artery Stenoses" EXACT []
synonym: "Basilar Artery Stenosis" EXACT []
synonym: "basilar artery syndrome" EXACT []
synonym: "Basilar Insufficiencies" EXACT []
synonym: "Basilar Insufficiency" EXACT []
xref: EFO:1001449
xref: ICD9CM:435.0
xref: NCI:C34413
is_a: DOID:0050828 ! artery disease
is_a: DOID:224 ! transient cerebral ischemia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:2231
name: factor XII deficiency
alt_id: MIM:234000
def: "A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. (DO)" [http://omim.org/entry/234000 "DO", https://rarediseases.org/rare-diseases/factor-xii-deficiency/ "DO"]
synonym: "Coagulation Factor 12 Deficiency" EXACT []
synonym: "F12 DEFICIENCY" EXACT []
synonym: "factor 12 deficiencies" EXACT []
synonym: "Factor 12 Deficiency" EXACT []
synonym: "factor XII deficiencies" EXACT []
synonym: "factor XII deficiency disease" EXACT []
synonym: "HAF DEFICIENCY" EXACT []
synonym: "Hageman deficiency" EXACT []
synonym: "Hageman factor deficiency" EXACT []
synonym: "Hageman trait" EXACT []
xref: GARD:6558
xref: MESH:D005175
xref: NCI:C131740
xref: ORDO:330
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:2234
name: focal epilepsy
def: "An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. (DO)" [http://en.wikipedia.org/wiki/Epilepsy "DO", http://en.wikipedia.org/wiki/Focal_epilepsy "DO", http://www.aafp.org/afp/2001/0701/p91.html "DO"]
synonym: "abdominal epilepsies" EXACT []
synonym: "Abdominal Epilepsy" EXACT []
synonym: "amygdalo-hippocampal epilepsies" EXACT []
synonym: "Amygdalo-Hippocampal Epilepsy" EXACT []
synonym: "benign occipital epilepsies" EXACT []
synonym: "Benign Occipital Epilepsy" EXACT []
synonym: "Childhood Benign Focal Epilepsy" EXACT []
synonym: "Childhood Benign Occipital Epilepsy" EXACT []
synonym: "digestive epilepsies" EXACT []
synonym: "Digestive Epilepsy" EXACT []
synonym: "Epilepsies, Partial" EXACT []
synonym: "Focal Epilepsies" EXACT []
synonym: "FOCAL-ONSET SEIZURE" EXACT []
synonym: "Focal Seizure Disorder" EXACT []
synonym: "Focal Seizure Disorders" EXACT []
synonym: "FOCAL SEIZURES WITH IMPAIRMENT OF CONSCIOUSNESS OR AWARENESS" NARROW []
synonym: "Gelastic Epilepsies" EXACT []
synonym: "Gelastic Epilepsy" EXACT []
synonym: "localisation-related epilepsy" EXACT []
synonym: "Localization-Related Epilepsies" EXACT []
synonym: "Localization-Related Epilepsy" EXACT []
synonym: "Occipital Lobe Epilepsies" EXACT []
synonym: "Occipital Lobe Epilepsy" EXACT []
synonym: "Partial Epilepsy" EXACT []
synonym: "Partial Seizure Disorder" EXACT []
synonym: "Partial Seizure Disorders" EXACT []
synonym: "Partial Seizures, Simple, Consciousness Preserved" EXACT []
synonym: "Rhinencephalic Epilepsies" EXACT []
synonym: "Rhinencephalic Epilepsy" EXACT []
synonym: "subclinical seizure" EXACT []
synonym: "subclinical seizures" EXACT []
synonym: "uncinate seizure" EXACT []
synonym: "uncinate seizures" EXACT []
xref: EFO:0004263
xref: MESH:D004828
xref: NCI:C122812
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:2235
name: prothrombin deficiency
def: "A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11. (DO)" [https://ghr.nlm.nih.gov/condition/prothrombin-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/30306070 "DO", https://www.omim.org/entry/613679 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=325 "DO"]
synonym: "Congenital factor II deficiency" EXACT []
synonym: "factor II deficiencies" EXACT []
synonym: "factor II deficiency" EXACT []
synonym: "hypoprothrombinemia" EXACT []
synonym: "hypoprothrombinemias" EXACT []
synonym: "prothrombin deficiencies" EXACT []
xref: MESH:D007020
xref: NCI:C131737
xref: NCI:C26799
xref: ORDO:325
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:2452 ! thrombophilia
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:2236
name: congenital afibrinogenemia
alt_id: MIM:202400
def: "A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I). (DO)" [https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia#synonyms "DO"]
synonym: "afibrinogenemia" EXACT []
synonym: "afibrinogenemias" EXACT []
synonym: "Congenital Afibrinogenaemia" EXACT []
synonym: "Congenital Afibrinogenaemias" EXACT []
synonym: "Congenital Afibrinogenemias" EXACT []
synonym: "congenital hypofibrinogenemia" EXACT []
synonym: "Congenital Hypofibrinogenemias" EXACT []
synonym: "factor I deficiency" EXACT []
synonym: "Familial Afibrinogenemia" EXACT []
synonym: "Familial Afibrinogenemias" EXACT []
synonym: "FGB-RELATED CONDITION" NARROW []
synonym: "Fibrinogen Deficiencies" EXACT []
synonym: "Fibrinogen Deficiency" EXACT []
synonym: "FIBRINOGEN PARIS 1" RELATED []
synonym: "hypofibrinogenemia" EXACT []
xref: GARD:5761
xref: MESH:D000347
xref: NCI:C98130
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080015 ! physical disorder
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:2237
name: hepatitis
def: "INFLAMMATION of the LIVER." [MESH:D006505]
synonym: "acute/subac. necrosis of liver" NARROW []
synonym: "acute and subacute liver necrosis" NARROW [SNOMEDCT_2005_07_31:197268000]
synonym: "acute hepatitis" NARROW []
synonym: "hepatitides" EXACT []
xref: ICD10CM:K73.9
xref: ICD9CM:570
xref: ICD9CM:571.4
xref: ICD9CM:571.41
xref: MESH:D006505
xref: NCI:C82978
is_a: DOID:409 ! liver disease

[Term]
id: DOID:2239
name: granulomatous hepatitis
xref: NCI:C27015
is_a: DOID:2237 ! hepatitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:224
name: transient cerebral ischemia
def: "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death. (DO)" [https://en.wikipedia.org/wiki/Transient_ischemic_attack "DO"]
synonym: "anterior circulation transient ischemic attack" EXACT []
synonym: "Brain Ischemia-Reperfusion Injury" RELATED []
synonym: "Brain Reperfusion Injury" RELATED []
synonym: "Brain Stem Ischemia, Transient" EXACT []
synonym: "Brain Stem Transient Ischemic Attack" EXACT []
synonym: "Brainstem Transient Ischemic Attack" EXACT []
synonym: "Brain TIA" EXACT []
synonym: "Carotid Circulation Transient Ischemic Attack" EXACT []
synonym: "crescendo transient ischemic attacks" EXACT []
synonym: "Posterior Circulation Transient Ischemic Attack" EXACT []
synonym: "TIA" EXACT []
synonym: "TIA (Transient Ischemic Attack)" EXACT []
synonym: "TIA - transient ischaemic attack" EXACT []
synonym: "Transient Brainstem Ischemia" EXACT []
synonym: "transient brainstem ischemias" EXACT []
synonym: "Transient cerebral ischaemia" EXACT []
synonym: "Transient Cerebral Ischemias" EXACT []
synonym: "transient ischemic attack" EXACT []
synonym: "transient ischemic attacks" EXACT []
synonym: "vertebrobasilar circulation transient ischemic attack" EXACT []
xref: EFO:0003764
xref: ICD10CM:G45.9
xref: MESH:D002546
xref: NCI:C50781
is_a: DOID:2316 ! brain ischemia
is_a: DOID:9004009 ! Reperfusion Injury

[Term]
id: DOID:2247
name: spondylosis
alt_id: MIM:184300
def: "A bone structure disease that involves degeneration between vertebra located_in vertebral column. (DO)" [http://en.wikipedia.org/wiki/Spondylosis "DO", http://www.mayoclinic.com/health/cervical-spondylosis/DS00697 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000436.htm "DO", http://www.spine-health.com/conditions/back-pain/spondylosis-what-it-actually-means "DO", https://www.spineuniverse.com/conditions/spondylosis/spondylosis "DO"]
synonym: "cervical spondylosis" NARROW []
synonym: "lumbarsacral spondylosis" NARROW []
synonym: "lumbar spondylosis with myelopathy" NARROW []
synonym: "lumbosacral spondylosis without myelopathy" NARROW []
synonym: "spondylogenic compression of lumbar spinal cord" NARROW []
synonym: "spondylogenic compression of thoracic spinal cord" NARROW []
synonym: "Spondylosis Deformans" EXACT []
synonym: "spondylosis with myelopathy" EXACT []
synonym: "thoracic or lumbar spondylosis with myelopathy" NARROW []
synonym: "thoracic spondylosis" NARROW []
xref: EFO:0009610
xref: ICD10CM:M47
xref: ICD10CM:M47.9
xref: ICD9CM:721.9
xref: MESH:D055009
xref: MONDO:0002253
is_a: DOID:0060564 ! spinal disease
is_a: DOID:0080010 ! bone structure disease

[Term]
id: DOID:225
name: syndrome
def: "A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syndrome "DO"]
synonym: "symptom cluster" EXACT []
synonym: "symptom clusters" EXACT []
synonym: "syndromes" EXACT []
xref: MESH:D013577
xref: NCI:C28193
is_a: DOID:4 ! disease

[Term]
id: DOID:2251
name: hypertrophic elongation of cervix
xref: ICD10CM:N88.4
xref: ICD9CM:622.6
is_a: DOID:2253 ! cervix disease

[Term]
id: DOID:2253
name: cervix disease
def: "An uterine disease that is located_in the cervix. (DO)" [https://www.mdedge.com/obgmanagement/article/136739/gynecology/2017-update-cervical-disease "DO"]
synonym: "cervix diseases" EXACT []
synonym: "uterine cervical disease" EXACT []
synonym: "uterine cervical diseases" EXACT []
xref: MESH:D002577
xref: NCI:C40241
is_a: DOID:345 ! uterine disease

[Term]
id: DOID:2256
name: osteochondrodysplasia
alt_id: OMIA:000187
alt_id: OMIA:001315
alt_id: OMIA:001886
def: "A bone development disease that results_in defective development of cartilage or bone. (DO)" [http://en.wikipedia.org/wiki/Osteochondrodysplasia "DO"]
synonym: "cartilage development disorder" EXACT []
synonym: "chondrodysplasia" NARROW []
synonym: "chondrodysplasia, disproportionate short-limbed" NARROW []
synonym: "chondrodystrophic myotonia" EXACT []
synonym: "chondrodystrophy" EXACT []
synonym: "congenital anomaly of cartilage" EXACT []
synonym: "dyschondroplasia" EXACT []
synonym: "dyschondroplasias" EXACT []
synonym: "late onset spondyloepiphyseal dysplasia" EXACT []
synonym: "Late Spondyloepiphyseal Dysplasia" EXACT []
synonym: "Multiple Epiphyseal Dysplasia" EXACT []
synonym: "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities" EXACT []
synonym: "osteochondrodysplasias" EXACT []
synonym: "osteochondrodysplasia syndrome" EXACT []
synonym: "SJA syndrome" EXACT []
synonym: "skeletal dysplasia" EXACT []
synonym: "SOST sclerosing bone dysplasia" EXACT []
synonym: "spondylo-epimetaphyseal dysplasia with myotonia" EXACT []
synonym: "TRIP11-related condition" BROAD []
xref: EFO:0005571
xref: GARD:6051
xref: ICD10CM:Q78.9
xref: ICD9CM:756.4
xref: MESH:D010009
xref: MONDO:0005516
xref: NCI:C34466
xref: NCI:C84978
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1222 ! cartilage disease

[Term]
id: DOID:227
name: ankylosis
def: "An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. (DO)" [http://en.wikipedia.org/wiki/Ankylosis "DO"]
synonym: "ankyloses" EXACT []
xref: ICD10CM:M24.6
xref: ICD9CM:718.5
xref: MESH:D000844
xref: NCI:C171941
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:2272
name: vulvovaginal candidiasis
def: "A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge. (DO)" [http://en.wikipedia.org/wiki/Vulvovaginal_candidiasis "DO", http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ "DO"]
synonym: "candidal cervix" EXACT []
synonym: "candidal vulvovaginitis" EXACT []
synonym: "candidiasis of vulva and vagina" EXACT []
synonym: "monilial vaginitides" EXACT []
synonym: "Monilial Vaginitis" EXACT []
synonym: "monilial vulvovaginitis" EXACT []
synonym: "vulvovaginal candidiases" EXACT []
synonym: "vulvovaginal moniliases" EXACT []
synonym: "vulvovaginal moniliasis" EXACT []
xref: EFO:0007543
xref: ICD10CM:B37.3
xref: ICD9CM:112.1
xref: MESH:D002181
xref: NCI:C2914
is_a: DOID:1508 ! candidiasis
is_a: DOID:2273 ! vulvovaginitis

[Term]
id: DOID:2273
name: vulvovaginitis
def: "A female reproductive system disease that is characterized by inflammation of the vagina and vulva. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26001874 "DO"]
synonym: "vulvovaginitides" EXACT []
synonym: "vulvo-vaginitis" EXACT []
xref: EFO:1001240
xref: ICD10CM:N76.0
xref: MESH:D014848
xref: NCI:C35131
is_a: DOID:2170 ! vaginitis
is_a: DOID:3901 ! vulvitis

[Term]
id: DOID:2275
name: pharyngitis
def: "An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. (DO)" [http://en.wikipedia.org/wiki/Pharyngitis "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A5016 "DO"]
synonym: "acute pharyngitis" NARROW []
synonym: "acute sore throat" NARROW []
synonym: "chronic pharyn/nasopharyngitis" EXACT []
synonym: "chronic pharyngitis" NARROW []
synonym: "chronic pharyngitis and nasopharyngitis" EXACT []
synonym: "inflamed throat" EXACT []
synonym: "persistent sore throat" EXACT []
synonym: "pharyngeal disorder" EXACT []
synonym: "Pharyngitides" EXACT []
synonym: "Sore Throat" EXACT []
synonym: "Sore throat - chronic" NARROW []
synonym: "sore throats" EXACT []
xref: EFO:0009657
xref: ICD10CM:J02
xref: ICD9CM:462
xref: ICD9CM:472
xref: ICD9CM:478.20
xref: MESH:D010612
xref: NCI:C26850
xref: NCI:C26851
xref: NCI:C34355
is_a: DOID:9004130 ! Pharyngeal Diseases
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9008680 ! Respiratory Tract Infections
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:2277
name: gonadal disease
def: "An endocrine system disease that is located_in the gonads. (DO)" [https://www.nature.com/subjects/gonadal-disorders "DO"]
synonym: "gonadal disorder" EXACT []
synonym: "gonadal disorders" EXACT []
xref: MESH:D006058
xref: MIM:PS176400
xref: NCI:C26786
is_a: DOID:28 ! endocrine system disease

[Term]
id: DOID:2280
name: hidradenitis suppurativa
def: "A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402905/ "DO"]
synonym: "acne inversa" EXACT []
synonym: "acne inversa, familial" EXACT []
synonym: "acne inversas" EXACT []
synonym: "suppurative hidradenitides" EXACT []
synonym: "suppurative hidradenitis" EXACT []
xref: EFO:1000710
xref: GARD:6658
xref: ICD10CM:L73.2
xref: MESH:D017497
xref: MIM:PS142690
xref: NCI:C128429
is_a: DOID:2282 ! hidradenitis
is_a: DOID:9003209 ! Bacterial Skin Diseases
is_a: DOID:9005889 ! Suppuration

[Term]
id: DOID:2282
name: hidradenitis
def: "A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=18.09d&code=C112190&ns=ncit&type=properties&key=null&b=1&n=0&vse=null "DO"]
synonym: "hidradenitides" EXACT []
synonym: "hidrosadenitides" EXACT []
synonym: "Hidrosadenitis" EXACT []
synonym: "Hydradenitides" EXACT []
synonym: "Hydradenitis" EXACT []
synonym: "neutrophilic eccrine hidradenitides" EXACT []
synonym: "neutrophilic eccrine hidradenitis" EXACT []
xref: EFO:1000710
xref: ICD9CM:705.83
xref: MESH:D016575
xref: NCI:C112190
is_a: DOID:1383 ! sweat gland disease

[Term]
id: DOID:2283
name: keratopathy
def: "A non-inflammatory disease of the cornea." []
xref: NCI:C27012
is_a: DOID:10124 ! corneal disease

[Term]
id: DOID:2286
name: capillary lymphangioma
synonym: "cutaneous lymphangioma" EXACT []
xref: ICDO:9171/0
xref: NCI:C27509
is_a: DOID:1271 ! capillary disease
is_a: DOID:1475 ! lymphangioma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:229
name: female reproductive system disease
def: "A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. (DO)" [http://en.wikipedia.org/wiki/Female_reproductive_system "DO", http://en.wikipedia.org/wiki/Reproductive_system_disease "DO"]
synonym: "Female Genital Disease" EXACT []
synonym: "Female Genital Diseases" EXACT []
synonym: "female genital tract polyp" NARROW []
synonym: "Gynecologic Disease" EXACT []
synonym: "Gynecologic Diseases" EXACT []
synonym: "menopausal or post-menopausal disease" NARROW []
xref: EFO:0008622
xref: EFO:0009549
xref: EFO:0010685
xref: ICD9CM:629.9
xref: MESH:D005831
is_a: DOID:15 ! reproductive system disease
is_a: DOID:9002739 ! Female Urogenital Diseases

[Term]
id: DOID:2297
name: leptospirosis
def: "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly. (DO)" [http://en.wikipedia.org/wiki/Leptospirosis "DO"]
synonym: "cane cutter fever" EXACT []
synonym: "Fort Bragg fever" EXACT []
synonym: "leptospira canicola infection" EXACT []
synonym: "leptospira canicola infections" EXACT []
synonym: "leptospiroses" EXACT []
synonym: "leptospirosis canicola" EXACT []
synonym: "leptospirosis canicolas" EXACT []
synonym: "leptospirosis icterohaemorrhagica" EXACT []
synonym: "mud fever" EXACT []
synonym: "nanukayami fever" EXACT []
synonym: "rat catcher's yellows" EXACT []
synonym: "rice field fever" EXACT []
synonym: "spirochetal jaundice" EXACT []
synonym: "Stuttgart disease" EXACT []
xref: EFO:0007344
xref: GARD:7881
xref: ICD10CM:A27
xref: ICD10CM:A27.0
xref: ICD9CM:100
xref: ICD9CM:100.0
xref: MESH:D007922
xref: NCI:C84825
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9002423 ! Spirochaetales Infections
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:230
name: lateral sclerosis
alt_id: MIM:611637
alt_id: RDO:0015114
def: "A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. (DO)" [http://en.wikipedia.org/wiki/Primary_lateral_sclerosis "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/645/viewAbstract "DO"]
synonym: "adult-onset primary lateral sclerosis" EXACT []
synonym: "lateral scleroses" EXACT []
synonym: "PLSA" EXACT []
synonym: "PLSA1" EXACT []
synonym: "PLS, Adult" EXACT []
synonym: "primary lateral scleroses" EXACT []
synonym: "primary lateral sclerosis" EXACT []
synonym: "primary lateral sclerosis, adult, 1" EXACT []
xref: ICD10CM:G12.23
xref: ICD9CM:335.24
xref: MESH:C566900
xref: NCI:C129933
xref: ORDO:35689
is_a: DOID:231 ! motor neuron disease

[Term]
id: DOID:2300
name: spondylolysis
def: "A bone structure disease that involves a defect located_in lumbar vertebral column. (DO)" [http://en.wikipedia.org/wiki/Spondylolysis "DO", http://my.clevelandclinic.org/disorders/back_pain/hic_spondylolysis.aspx "DO", http://orthoinfo.aaos.org/topic.cfm?topic=a00053 "DO", http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm "DO"]
synonym: "Spondylolyses" EXACT []
xref: EFO:0005649
xref: ICD10CM:M43.0
xref: MESH:D013169
xref: NCI:C35034
is_a: DOID:0080010 ! bone structure disease
is_a: DOID:2247 ! spondylosis

[Term]
id: DOID:2301
name: atrophy of prostate
xref: ICD9CM:602.2
is_a: DOID:47 ! prostate disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:2303
name: stereotypic movement disorder
def: "A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. (DO)" [https://www.psychologytoday.com/us/conditions/stereotypic-movement-disorder "DO"]
synonym: "body rocking" EXACT []
synonym: "head banging" EXACT []
synonym: "stereotyped repetitive movements" EXACT []
synonym: "stereotypic movement disorders" EXACT []
synonym: "stereotypy habit disorder" EXACT []
xref: ICD10CM:F98.4
xref: ICD9CM:307.3
xref: MESH:D019956
is_a: DOID:0060038 ! specific developmental disorder
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:231
name: motor neuron disease
def: "A neurodegenerative disease that is located_in the motor neurons. (DO)" [http://en.wikipedia.org/wiki/Motor_neuron_disease "DO"]
synonym: "familial motor neuron disease" EXACT []
synonym: "Lower Motor Neuron Disease" EXACT []
synonym: "MADRAS MOTOR NEURON DISEASE" NARROW []
synonym: "motor neuron diseases" EXACT []
synonym: "Motor System Disease" EXACT []
synonym: "Motor System Diseases" EXACT []
synonym: "secondary motor neuron disease" EXACT []
synonym: "upper motor neuron disease" EXACT []
xref: EFO:0003782
xref: ICD9CM:335.2
xref: MESH:D016472
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:440 ! neuromuscular disease

[Term]
id: DOID:2312
name: nocardiosis
def: "An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy. (DO)" [http://en.wikipedia.org/wiki/Nocardiosis "DO"]
synonym: "Cerebral Nocardioses" EXACT []
synonym: "Cerebral Nocardiosis" EXACT []
synonym: "Nocardia Infection" EXACT []
synonym: "nocardia infections" EXACT []
synonym: "Nocardia infectious disease" EXACT []
synonym: "Nocardioses" EXACT []
synonym: "Primary Cutaneous Nocardioses" EXACT []
synonym: "Primary Cutaneous Nocardiosis" EXACT []
synonym: "pulmonary nocardioses" EXACT []
synonym: "pulmonary nocardiosis" EXACT []
xref: EFO:0007397
xref: GARD:7210
xref: ICD10CM:A43
xref: MESH:D009617
xref: NCI:C171147
is_a: DOID:0050340 ! opportunistic bacterial infectious disease
is_a: DOID:9000673 ! Actinomycetales Infections

[Term]
id: DOID:2314
name: malt worker's lung
def: "An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley. (DO)" [http://en.wikipedia.org/wiki/hypersensitivity_pneumonitis "DO", http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/five/000061759.htm "DO"]
synonym: "alveolitis due to aspergillus clavatus" EXACT []
synonym: "malt worker lung" EXACT []
synonym: "malt-workers' lung" EXACT []
xref: ICD10CM:J67.4
xref: ICD9CM:495.4
is_a: DOID:841 ! extrinsic allergic alveolitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:2316
name: brain ischemia
def: "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand. (DO)" [https://en.wikipedia.org/wiki/Brain_ischemia "DO", https://www.columbianeurosurgery.org/conditions/cerebral-ischemia/ "DO"]
synonym: "brain ischemias" EXACT []
synonym: "Cerebral Hypoperfusion" EXACT []
synonym: "cerebral ischemia" EXACT []
synonym: "Cerebral Ischemias" EXACT []
synonym: "Ischaemic encephalopathy" EXACT []
synonym: "ischemic encephalopathies" EXACT []
synonym: "ischemic encephalopathy" EXACT []
xref: EFO:0003883
xref: MESH:D002545
xref: MONDO:0005299
is_a: DOID:326 ! ischemia
is_a: DOID:6713 ! cerebrovascular disease

[Term]
id: DOID:2320
name: obstructive lung disease
def: "A lung disease that is characterized by narrowing of pulmonary airways. (DO)" [https://lunginstitute.com/blog/the-difference-between-obstructive-and-restrictive-lung-disease/ "DO"]
synonym: "obstructive lung diseases" EXACT []
synonym: "obstructive pulmonary disease" EXACT []
synonym: "obstructive pulmonary diseases" EXACT []
synonym: "respiratory airway obstruction" EXACT []
xref: MESH:D008173
is_a: DOID:850 ! lung disease

[Term]
id: DOID:2326
name: gastroenteritis
def: "A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. (DO)" [http://www.merck.com/mmhe/sec09/ch122/ch122a.html "DO"]
synonym: "gastroenteritides" EXACT []
synonym: "infectious colitis, enteritis and gastroenteritis" EXACT []
xref: EFO:1001463
xref: ICD10CM:K52.9
xref: MESH:D005759
xref: NCI:C34632
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:2327
name: viral gastritis
def: "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting. (DO)" [http://www.merck.com/mmpe/sec02/ch013/ch013c.html "DO"]
xref: NCI:C27184
is_a: DOID:4029 ! gastritis
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:2338
name: mandibular cancer
def: "A jaw cancer and mandibular disease that affects your lower jawbone. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C35178 "DO"]
synonym: "malignant neoplasm of inferior maxilla" EXACT [MTHICD9_2006:170.1]
synonym: "malignant neoplasm of lower Jaw bone" EXACT [NCI2004_11_17:C35178]
synonym: "malignant neoplasm of mandible" EXACT []
synonym: "mandible cancer" EXACT []
xref: EFO:0007356
xref: ICD10CM:C41.1
xref: ICD9CM:170.1
xref: NCI:C35178
is_a: DOID:1862 ! jaw cancer
is_a: DOID:9005446 ! Mandibular Neoplasms

[Term]
id: DOID:2339
name: Crouzon syndrome
alt_id: MIM:123500
def: "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. (DO)" [http://en.wikipedia.org/wiki/Crouzon_syndrome "DO", http://ghr.nlm.nih.gov/condition/crouzon-syndrome "DO", http://rarediseases.about.com/cs/crouzonsyndrome/a/011804.htm "DO", https://www.faces-cranio.org/crouzon "DO"]
synonym: "CFD1" EXACT []
synonym: "craniofacial dysarthroses" EXACT []
synonym: "Craniofacial Dysarthrosis" EXACT []
synonym: "craniofacial dysostoses" EXACT []
synonym: "Craniofacial Dysostosis" EXACT []
synonym: "Craniofacial Dysostosis Syndrome" EXACT []
synonym: "Craniofacial Dysostosis Syndromes" EXACT []
synonym: "Craniofacial Dysostosis Type 1" EXACT []
synonym: "Craniofacial Dysostosis, Type I" EXACT []
synonym: "Crouzon's disease" EXACT []
synonym: "Crouzon Craniofacial Dysostosis" EXACT []
synonym: "Crouzon Disease" EXACT []
synonym: "Crouzons disease" EXACT []
xref: GARD:6206
xref: ICD10CM:Q75.1
xref: MESH:D003394
xref: NCI:C84653
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:234
name: colon adenocarcinoma
def: "A colon carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of colon" EXACT []
synonym: "adenocarcinoma of the colon" RELATED []
synonym: "colonic adenocarcinoma" EXACT []
xref: EFO:0000362
xref: EFO:1001949
xref: NCI:C120044
xref: NCI:C4349
is_a: DOID:0050861 ! colorectal adenocarcinoma
is_a: DOID:0050913 ! large intestine adenocarcinoma
is_a: DOID:1520 ! colon carcinoma

[Term]
id: DOID:2340
name: craniosynostosis
alt_id: MIM:123100
alt_id: OMIA:001551
def: "A synostosis that results_in premature fusion located_in skull. (DO)" [http://en.wikipedia.org/wiki/Craniosynostosis "DO", http://www.mayoclinic.com/health/craniosynostosis/DS00959 "DO", http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm "DO"]
synonym: "Acrocephaly" EXACT []
synonym: "Brachycephaly" EXACT []
synonym: "craniostenoses" EXACT []
synonym: "Craniostenosis" EXACT []
synonym: "Craniosynostose" EXACT []
synonym: "craniosynostoses" EXACT []
synonym: "craniosynostoses type 1" EXACT []
synonym: "CRANIOSYNOSTOSIS 1" EXACT []
synonym: "CRANIOSYNOSTOSIS, NONSPECIFIC" NARROW []
synonym: "Craniosynostosis, nonsyndromic unicoronal" EXACT []
synonym: "Craniosynostosis Plagiocephaly" EXACT []
synonym: "craniosynostosis type 1" EXACT []
synonym: "CRS" EXACT []
synonym: "CRS1" EXACT []
synonym: "FGFR2 RELATED CRANIOSYNOSTOSIS" NARROW []
synonym: "lambdoidal craniosynostoses" EXACT []
synonym: "Lambdoidal Craniosynostosis" EXACT []
synonym: "lambdoid synostoses" EXACT []
synonym: "Lambdoid Synostosis" EXACT []
synonym: "Metopic Synostoses" EXACT []
synonym: "Metopic Synostosis" EXACT []
synonym: "Oxycephaly" EXACT []
synonym: "premature closure of cranial sutures" EXACT []
synonym: "Sagittal Synostoses" EXACT []
synonym: "Sagittal Synostosis" EXACT []
synonym: "Scaphocephaly" EXACT []
synonym: "SYNDROMIC CRANIOSYNOSTOSIS" NARROW []
synonym: "Synostotic Anterior Plagiocephaly" EXACT []
synonym: "Synostotic Plagiocephaly" EXACT []
synonym: "Synostotic Posterior Plagiocephaly" EXACT []
synonym: "trigonocephaly" EXACT []
synonym: "unilateral coronal synostoses" EXACT []
synonym: "unilateral coronal synostosis" EXACT []
xref: EFO:0009141
xref: GARD:6209
xref: ICD10CM:Q75.0
xref: MESH:D003398
xref: MIM:PS123100
xref: NCI:C84655
xref: ORDO:1531
is_a: DOID:11971 ! synostosis
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:2344
name: polyclonal hypergammaglobulinemia
xref: ICD10CM:D89.0
xref: ICD9CM:273.0
xref: NCI:C35885
is_a: DOID:2345 ! plasma protein metabolism disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2345
name: plasma protein metabolism disease
def: "An inherited metabolic disorder that involves plasma protein metabolism malfunction. (DO)" [http://en.wikipedia.org/wiki/Blood_protein "DO"]
xref: ICD9CM:273.8
is_a: DOID:655 ! inherited metabolic disorder
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2346
name: monoclonal paraproteinemia
synonym: "monoclonal paraproteinaemia" EXACT []
xref: ICD9CM:273.1
xref: NCI:C35878
is_a: DOID:2345 ! plasma protein metabolism disease

[Term]
id: DOID:2347
name: generalized atherosclerosis
synonym: "generalised atherosclerosis" EXACT []
synonym: "generalized and unspecified atherosclerosis" EXACT []
xref: ICD10CM:I70.91
xref: ICD9CM:440.9
xref: NCI:C35767
is_a: DOID:1936 ! atherosclerosis
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:2348
name: arteriosclerotic cardiovascular disease
synonym: "atherosclerotic cardiovascular disease" RELATED []
synonym: "cardiovascular arteriosclerosis" EXACT []
synonym: "cardiovascular arteriosclerosis unspecified" RELATED []
xref: NCI:C34403
is_a: DOID:2349 ! arteriosclerosis
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:2349
name: arteriosclerosis
def: "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. (DO)" [http://en.wikipedia.org/wiki/Arteriosclerosis "DO"]
synonym: "arterioscleroses" EXACT []
synonym: "arteriosclerotic vascular disease" EXACT []
xref: EFO:0009086
xref: MESH:D001161
xref: NCI:C34398
is_a: DOID:0050828 ! artery disease
is_a: DOID:9006474 ! Arterial Occlusive Diseases

[Term]
id: DOID:235
name: colonic benign neoplasm
def: "An intestinal benign neoplasm that is located_in the colon. (DO)" [http://en.wikipedia.org/wiki/Benign_tumor "DO"]
synonym: "colonic mass" EXACT []
xref: NCI:C2953
is_a: DOID:1475 ! lymphangioma
is_a: DOID:4610 ! intestinal benign neoplasm
is_a: DOID:9002928 ! Colonic Neoplasms
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:2351
name: iron metabolism disease
def: "Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)" [MESH:D019189]
synonym: "disorder of iron metabolism" EXACT []
synonym: "iron disorder" EXACT []
synonym: "iron metabolism disorder" EXACT []
synonym: "iron metabolism disorders" EXACT []
xref: ICD9CM:275.0
xref: MESH:D019189
is_a: DOID:0050032 ! mineral metabolism disease

[Term]
id: DOID:2352
name: hemochromatosis
def: "A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. (DO)" [http://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis "DO", http://ghr.nlm.nih.gov/condition/hemochromatosis "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/13/viewAbstract "DO"]
synonym: "bronzed cirrhoses" EXACT []
synonym: "bronzed cirrhosis" EXACT []
synonym: "Bronze Diabetes" EXACT []
synonym: "Familial Hemochromatoses" EXACT []
synonym: "Familial Hemochromatosis" EXACT []
synonym: "Genetic Hemochromatoses" EXACT []
synonym: "Genetic Hemochromatosis" EXACT []
synonym: "Haemochromatoses" EXACT []
synonym: "Haemochromatosis" EXACT []
synonym: "Hemochromatose" EXACT []
synonym: "Hemochromatoses" EXACT []
synonym: "HEMOCHROMATOSIS, HEREDITARY" EXACT []
synonym: "HEMOCHROMATOSIS, JUVENILE, DIGENIC" EXACT []
synonym: "HFE" EXACT []
synonym: "HFE INTRONIC POLYMORPHISM" RELATED []
synonym: "HFE POLYMORPHISM" RELATED []
synonym: "HH" EXACT []
synonym: "Iron Storage Disorder" EXACT []
synonym: "Iron Storage Disorders" EXACT []
synonym: "Pigmentary Cirrhoses" EXACT []
synonym: "Pigmentary Cirrhosis" EXACT []
synonym: "Primary Hemochromatosis" EXACT []
synonym: "Troisier Hanot Chauffard Syndrome" EXACT []
synonym: "von Recklenhausen Applebaum disease" EXACT []
xref: EFO:1000642
xref: ICD10CM:E83.11
xref: MESH:D006432
xref: MIM:PS235200
xref: NCI:C84481
xref: ORDO:139498
is_a: DOID:896 ! metal metabolism disorder
is_a: DOID:9005725 ! Iron Overload

[Term]
id: DOID:2354
name: myelophthisic anemia
def: "An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas. (DO)" [http://en.wikipedia.org/wiki/Myelophthisic_anemia "DO"]
synonym: "leukoerythroblastic anemia" EXACT []
synonym: "leukoerythroblastic anemias" EXACT []
synonym: "leukoerythroblastosis" EXACT []
synonym: "myelophthisic anemias" EXACT []
synonym: "myelophthisis" RELATED []
xref: EFO:0007388
xref: ICD10CM:D61.82
xref: MESH:D000750
xref: NCI:C36218
is_a: DOID:0070004 ! myeloid neoplasm
is_a: DOID:12449 ! aplastic anemia

[Term]
id: DOID:2355
name: anemia
def: "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. (DO)" [http://en.wikipedia.org/wiki/Anemia "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/anemia/ "DO"]
synonym: "anaemia" EXACT []
synonym: "anemia due to enzyme disorder" NARROW []
synonym: "anemias" EXACT []
synonym: "HEMOGLOBIN HINSDALE" RELATED []
xref: EFO:0004272
xref: EFO:0009529
xref: ICD10CM:D64.9
xref: ICD9CM:285.9
xref: MESH:D000740
xref: NCI:C2869
is_a: DOID:74 ! hematopoietic system disease

[Term]
id: DOID:2361
name: macrocytic anemia
def: "An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL). (DO)" [https://my.clevelandclinic.org/health/diseases/23017-macrocytic-anemia "DO", MESH:D000748]
synonym: "macrocytic anaemia" EXACT []
synonym: "macrocytic anemias" EXACT []
xref: MESH:D000748
xref: MONDO:0002281
xref: NCI:C34381
is_a: DOID:2355 ! anemia

[Term]
id: DOID:2364
name: post-thrombotic syndrome
alt_id: MESH:D011186
def: "A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis. (DO)" [http://en.wikipedia.org/wiki/Post-thrombotic_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21239797 "DO"]
synonym: "postphlebetic syndrome with inflammation" EXACT []
synonym: "Postphlebetic syndrome with ulcer" EXACT []
synonym: "Postphlebetic syndrome with ulcer and inflammation" EXACT []
synonym: "Postphlebitic Disease" EXACT []
synonym: "postphlebitic diseases" EXACT []
synonym: "Postphlebitic Syndrome" EXACT []
synonym: "postphlebitic syndromes" EXACT []
synonym: "Postphlebitic Ulcer" EXACT []
synonym: "postphlebitic ulcers" EXACT []
synonym: "postthrombotic syndrome" EXACT []
synonym: "venous stasis syndrome" EXACT []
synonym: "venous stress disorder" EXACT []
xref: EFO:0007452
xref: EFO:1001405
xref: ICD10CM:I87.0
xref: ICD9CM:459.1
xref: MESH:D054070
is_a: DOID:10128 ! venous insufficiency
is_a: DOID:225 ! syndrome
is_a: DOID:864 ! phlebitis
is_a: DOID:9003871 ! Venous Thrombosis

[Term]
id: DOID:2365
name: West Nile encephalitis
def: "A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. (DO)" [http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO", http://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm "DO"]
synonym: "West Nile fever encephalitis" EXACT []
synonym: "West Nile fever with encephalitis" EXACT []
xref: EFO:0007545
xref: GARD:9959
xref: ICD10CM:A92.31
xref: ICD9CM:066.41
is_a: DOID:2366 ! West Nile fever
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:2366
name: West Nile fever
alt_id: MIM:610379
def: "A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. (DO)" [http://www.cdc.gov/ncidod/eid/vol5no5/hubalek.htm "DO", http://www.cfsph.iastate.edu/FastFacts/pdfs/west_nile_fever_F.pdf "DO"]
synonym: "West Nile fever meningitis" EXACT []
synonym: "West Nile Fever meningoencephalitis" EXACT []
synonym: "West Nile Fever Myelitis" EXACT []
synonym: "WEST NILE VIRUS, SUSCEPTIBILITY TO" EXACT []
synonym: "WNV, susceptibility to" RELATED []
xref: ICD10CM:A92.3
xref: ICD9CM:066.4
xref: MESH:D014901
is_a: DOID:9004146 ! Flavivirus Infections
is_a: DOID:9008926 ! Arbovirus Encephalitis

[Term]
id: DOID:2367
name: neuroaxonal dystrophy
alt_id: OMIA:000715
def: "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)" [MESH:D019150]
synonym: "adult neuroaxonal dystrophy" EXACT []
synonym: "juvenile neuroaxonal dystrophy" EXACT []
synonym: "late infantile neuroaxonal dystrophy" EXACT []
synonym: "neuroaxonal dystrophies" EXACT []
synonym: "PLA2G6-associated neurodegeneration" BROAD []
synonym: "PLA2G6-related NBIA" BROAD []
xref: MESH:D019150
xref: NCI:C161542
is_a: DOID:1443 ! cerebral degeneration

[Term]
id: DOID:2368
name: gangliosidosis
def: "A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides. (DO)" [https://en.wikipedia.org/wiki/Gangliosidosis "DO"]
synonym: "ganglioside storage disease" EXACT []
synonym: "ganglioside storage diseases" EXACT []
synonym: "ganglioside storage disorder" EXACT []
synonym: "ganglioside storage disorders" EXACT []
synonym: "gangliosidoses" EXACT []
xref: GARD:12510
xref: ICD10CM:E75.10
xref: MESH:D005733
xref: ORDO:309144
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1927 ! sphingolipidosis

[Term]
id: DOID:2373
name: hereditary elliptocytosis
def: "A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. (DO)" [http://en.wikipedia.org/wiki/Hereditary_elliptocytosis "DO", http://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/hereditary_spherocytosis_and_hereditary_elliptocytosis.html "DO", https://research.nhgri.nih.gov/RBCmembrane/ "DO"]
synonym: "congenital elliptocytosis" EXACT []
synonym: "ELLIPTOCYTOSIS" BROAD []
synonym: "Hereditary Elliptocytoses" EXACT []
synonym: "Hereditary Ovalocytoses" EXACT []
synonym: "Hereditary Ovalocytosis" EXACT []
synonym: "hereditary stomatocytic elliptocytosis" EXACT []
synonym: "ovalocytosis" EXACT []
xref: GARD:6621
xref: ICD10CM:D58.1
xref: ICD9CM:282.1
xref: MESH:D004612
xref: NCI:C35882
xref: ORDO:288
is_a: DOID:589 ! congenital hemolytic anemia

[Term]
id: DOID:2377
name: multiple sclerosis
def: "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. (DO)" [http://en.wikipedia.org/wiki/Multiple_sclerosis "DO", https://ghr.nlm.nih.gov/condition/multiple-sclerosis "DO"]
synonym: "acute fulminating multiple sclerosis" EXACT []
synonym: "disseminated sclerosis" EXACT []
synonym: "generalized multiple sclerosis" EXACT []
synonym: "insular sclerosis" EXACT []
synonym: "MS" EXACT []
synonym: "MS (Multiple Sclerosis)" EXACT []
synonym: "MS1" RELATED []
synonym: "MS2" RELATED []
synonym: "MS3" RELATED []
synonym: "MS4" RELATED []
synonym: "MS5" RELATED []
synonym: "multiple sclerosis modifier of disease progression" RELATED []
synonym: "multiple sclerosis, susceptibility to" RELATED []
synonym: "multiple sclerosis, susceptibility to, 1" RELATED []
synonym: "multiple sclerosis, susceptibility to, 2" RELATED []
synonym: "multiple sclerosis, susceptibility to, 3" RELATED []
synonym: "multiple sclerosis, susceptibility to, 4" RELATED []
synonym: "multiple sclerosis, susceptibility to, 5" RELATED []
xref: EFO:0003885
xref: GARD:10255
xref: ICD10CM:G35
xref: ICD9CM:340
xref: MESH:D009103
xref: MIM:126200
xref: MIM:612594
xref: MIM:612595
xref: MIM:612596
xref: MIM:614810
xref: MIM:PS126200
xref: MONDO:0005301
xref: NCI:C3243
is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS

[Term]
id: DOID:2378
name: relapsing-remitting multiple sclerosis
def: "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. (DO)" [http://www.mayoclinic.org/multiple-sclerosis/types.html "DO"]
synonym: "Acute Relapsing Multiple Sclerosis" EXACT []
synonym: "Relapsing-remitting MS" EXACT []
synonym: "RRMS" EXACT []
xref: EFO:0003929
xref: MESH:D020529
xref: NCI:C165675
is_a: DOID:2377 ! multiple sclerosis

[Term]
id: DOID:238
name: pupil disease
def: "Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes." [MESH:D011681]
synonym: "Afferent Pupillary Defect" EXACT []
synonym: "afferent pupillary defects" EXACT []
synonym: "Deformed Pupil" EXACT []
synonym: "deformed pupils" EXACT []
synonym: "Efferent Pupillary Defect" EXACT []
synonym: "efferent pupillary defects" EXACT []
synonym: "Fixed Pupil" EXACT []
synonym: "Fixed Pupils" EXACT []
synonym: "Keyhole Pupil" EXACT []
synonym: "Keyhole Pupils" EXACT []
synonym: "Marcus Gunn Pupil" EXACT []
synonym: "Non Syphilitic Argyll Robertson Pupil" EXACT []
synonym: "Occluded Pupil" EXACT []
synonym: "Occluded Pupils" EXACT []
synonym: "Pupil Disorder" EXACT []
synonym: "Pupil Disorders" EXACT []
synonym: "Pupillary Anomalies" EXACT []
synonym: "Pupillary Anomaly" EXACT []
synonym: "Pupillary Disorder" EXACT []
synonym: "Pupillary Disorders" EXACT []
synonym: "Pupillary Occlusion" EXACT []
synonym: "Pupillary Occlusions" EXACT []
synonym: "Pupillary Paralyses" EXACT []
synonym: "Pupillary Paralysis" EXACT []
synonym: "Pupillary Sector Paralyses" EXACT []
synonym: "Pupillary Sector Paralysis" EXACT []
synonym: "Pupillary Sphincter Rupture" EXACT []
synonym: "Pupillary Sphincter Ruptures" EXACT []
synonym: "Pupil Malformation" EXACT []
synonym: "Pupil Malformations" EXACT []
synonym: "Pupil Reaction Absent" EXACT []
synonym: "Reaction Absents, Pupil" EXACT []
synonym: "Sector Pupil Palsy" EXACT []
synonym: "Wernicke's hemianopic pupil" EXACT []
synonym: "Wernicke hemianopic pupil" EXACT []
synonym: "Wernickes hemianopic pupil" EXACT []
xref: MESH:D011681
is_a: DOID:5614 ! eye disease
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:2382
name: kernicterus
def: "A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction. (DO)" [https://en.wikipedia.org/wiki/Kernicterus "DO", https://www.nlm.nih.gov/medlineplus/ency/article/007309.htm "DO"]
synonym: "Bilirubin Encephalopathies" EXACT []
synonym: "Bilirubin Encephalopathy" EXACT []
synonym: "Hyperbilirubinemic Encephalopathies" EXACT []
synonym: "Hyperbilirubinemic Encephalopathy" EXACT []
xref: EFO:1001002
xref: GARD:6830
xref: ICD10CM:P57
xref: MESH:D007647
xref: NCI:C84799
is_a: DOID:1098 ! hemolytic disease of the fetus
is_a: DOID:2741 ! bilirubin metabolic disorder
is_a: DOID:9005627 ! Metabolic Brain Diseases

[Term]
id: DOID:2383
name: neonatal jaundice
def: "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. (DO)" [http://en.wikipedia.org/wiki/Neonatal_jaundice "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001559.htm "DO"]
synonym: "icterus gravis neonatorum" EXACT []
synonym: "neonatal icterus" EXACT []
synonym: "physiological neonatal jaundice" EXACT []
synonym: "severe jaundice in neonate" EXACT []
synonym: "severe jaundice in newborn" EXACT []
xref: EFO:1000739
xref: ICD10CM:P59.9
xref: MESH:D007567
xref: NCI:C99246
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9002532 ! Neonatal Hyperbilirubinemia

[Term]
id: DOID:2384
name: Wernicke encephalopathy
def: "A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1). (DO)" [https://en.wikipedia.org/wiki/Wernicke%27s_encephalopathy "DO"]
synonym: "Cerebral Beriberi" EXACT []
synonym: "Encephalopathy, Wernickes" EXACT []
synonym: "Gayet Wernicke Encephalopathy" EXACT []
synonym: "Wernicke's Disease" EXACT []
synonym: "Wernicke's Encephalopathy" EXACT []
synonym: "Wernicke's Superior Hemorrhagic Polioencephalitis" EXACT []
synonym: "Wernicke's Syndrome" EXACT []
synonym: "Wernicke Disease" EXACT []
synonym: "Wernicke Encephalopathies" EXACT []
synonym: "Wernicke Superior Hemorrhagic Polioencephalitis" EXACT []
synonym: "Wernicke Syndrome" EXACT []
xref: EFO:1001241
xref: ICD10CM:E51.2
xref: MESH:D014899
is_a: DOID:0070313 ! thiamine deficiency disease
is_a: DOID:9004354 ! Alcohol-Related Disorders
is_a: DOID:9005627 ! Metabolic Brain Diseases

[Term]
id: DOID:2388
name: renal artery disease
def: "Pathological processes in any of the renal blood vessels" []
synonym: "renal vascular disease" EXACT []
synonym: "renal vascular diseases" EXACT []
synonym: "renal vascular disorder" EXACT []
synonym: "renal vascular sclerosis" RELATED []
synonym: "vascular disorder of kidney" EXACT []
xref: ICD9CM:593.81
xref: NCI:C35338
xref: RDO:9000083
is_a: DOID:0050828 ! artery disease
is_a: DOID:341 ! peripheral vascular disease
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:2392
name: glandular cystitis
synonym: "cystitis glandularis" RELATED []
xref: NCI:C39860
xref: RDO:9002680
is_a: DOID:1680 ! chronic cystitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:2394
name: ovarian cancer
alt_id: MIM:607893
def: "A female reproductive organ cancer that is located_in the ovary. (DO)" [http://www.cancer.gov/dictionary?CdrID=445074 "DO"]
synonym: "cancer of ovary" EXACT []
synonym: "FAMILIAL OVARIAN CANCER" NARROW []
synonym: "malignant ovarian tumor" EXACT []
synonym: "malignant tumour of ovary" EXACT []
synonym: "ovarian cancers" EXACT []
synonym: "ovarian cancer, susceptibility to, 1" RELATED []
synonym: "ovary cancer" EXACT []
synonym: "ovary cancers" EXACT []
synonym: "OVCAS1" RELATED []
synonym: "primary ovarian cancer" EXACT []
xref: GARD:7295
xref: ICD10CM:C56
xref: ICD9CM:183.0
xref: MIM:167000
xref: NCI:C4984
xref: NCI:C7431
xref: ORDO:213500
xref: ORDO:213517
is_a: DOID:120 ! female reproductive organ cancer
is_a: DOID:170 ! endocrine gland cancer
is_a: DOID:9002762 ! Ovarian Neoplasms
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:240
name: iris disease
def: "Diseases, dysfunctions, or disorders of or located in the iris." []
synonym: "Iris Diseases" EXACT []
xref: MESH:D007499
xref: NCI:C34737
is_a: DOID:3480 ! uveal disease

[Term]
id: DOID:2401
name: clitoris cancer
def: "A vulva cancer that is located_in the clitoris. (DO)" [https://scialert.net/fulltext/?doi=ijcr.2008.110.126 "DO"]
synonym: "carcinoma of clitoris" EXACT []
synonym: "Clitoral Ca" EXACT []
synonym: "clitoral cancer" EXACT []
synonym: "malignant neoplasm of clitoris" EXACT []
synonym: "malignant tumor of clitoris" EXACT []
xref: ICD10CM:C51.2
xref: ICD9CM:184.3
xref: NCI:C3557
xref: NCI:C9362
is_a: DOID:1245 ! vulva cancer
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2409
name: rhinosporidiosis
def: "A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed. (DO)" [https://www.sciencedirect.com/science/article/abs/pii/S2213219817305093?via%3Dihub "DO"]
synonym: "infection by Rhinosporidium seeberi" EXACT []
synonym: "rhinosporidioses" EXACT []
xref: EFO:0007471
xref: ICD10CM:B48.1
xref: ICD9CM:117.0
xref: MESH:D012227
is_a: DOID:0050291 ! parasitic Ichthyosporea infectious disease
is_a: DOID:9008335 ! Mesomycetozoea Infections

[Term]
id: DOID:2410
name: skin granular cell tumor
synonym: "granular cell neoplasm of the skin" EXACT []
synonym: "granular cell tumor of skin" EXACT []
synonym: "granular cell tumour of skin" EXACT []
synonym: "skin granular cell tumour" EXACT []
xref: NCI:C5617
is_a: DOID:2411 ! granular cell tumor
is_a: DOID:3165 ! skin benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:2411
name: granular cell tumor
def: "Unusual tumor affecting any site of the body, but most often encountered in the head and neck. Considerable debate has surrounded the histogenesis of this neoplasm; however, it is considered to be a myoblastoma of, usually, a benign nature. It affects women more often than men. When it develops beneath the epidermis or mucous membrane, it can lead to proliferation of the squamous cells and mimic squamous cell carcinoma." [MESH:D016586]
synonym: "granular cell myoblastoma" EXACT []
synonym: "granular cell myoblastomas" EXACT []
synonym: "granular cell tumors" EXACT []
synonym: "neoplasm of granular cell" EXACT []
xref: EFO:1000284
xref: GARD:9618
xref: ICDO:9580/0
xref: MESH:D016586
xref: NCI:C158784
xref: NCI:C3474
is_a: DOID:3165 ! skin benign neoplasm
is_a: DOID:9003582 ! Muscle Tissue Neoplasms

[Term]
id: DOID:2425
name: cutaneous ganglioneuroma
synonym: "ganglioneuroma of skin" EXACT []
xref: NCI:C4481
is_a: DOID:3165 ! skin benign neoplasm
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:2426
name: gangliocytoma
def: "A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells. (DO)" [https://link.springer.com/chapter/10.1007/978-1-4419-1062-2_18 "DO", https://radiopaedia.org/articles/gangliocytoma "DO", https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma "DO"]
synonym: "gangliocytoma of central nervous system" EXACT []
xref: GARD:10638
xref: ICDO:9492/0
xref: NCI:C6934
is_a: DOID:0060090 ! central nervous system benign neoplasm

[Term]
id: DOID:2430
name: skin glomus tumor
synonym: "Glomus skin neoplasm" EXACT [NCI2004_11_17:C4491]
synonym: "Glomus tumor of skin" EXACT [SNOMEDCT_2005_07_31:254795008]
synonym: "Glomus tumour of skin" EXACT []
synonym: "skin glomus tumour" EXACT []
xref: NCI:C4491
xref: RDO:9003005
is_a: DOID:2431 ! glomus tumor
is_a: DOID:4159 ! skin cancer
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:2431
name: glomus tumor
def: "A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. (DO)" [https://en.wikipedia.org/wiki/Glomus_tumor "DO"]
synonym: "Glomangioma" EXACT []
synonym: "Glomangiomas" EXACT []
synonym: "glomus neoplasm" EXACT []
synonym: "Glomus Tumors" EXACT []
synonym: "glomus tumour" EXACT []
xref: ICDO:8711/0
xref: MESH:D005918
xref: NCI:C3060
xref: ORDO:391651
is_a: DOID:3850 ! hemangiopericytic tumor
is_a: DOID:9006948 ! Vascular Tissue Neoplasms

[Term]
id: DOID:2433
name: epidermal appendage tumor
synonym: "neoplasm of skin with adnexal differentiation" EXACT []
synonym: "neoplasm of the skin appendage" EXACT []
synonym: "skin appendage tumour" EXACT []
xref: NCI:C4463
xref: RDO:9004813
is_a: DOID:3165 ! skin benign neoplasm
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:2435
name: skin glomangioma
synonym: "cutaneous glomangioma" EXACT []
synonym: "glomangioma of skin" EXACT []
xref: NCI:C6750
is_a: DOID:2436 ! glomangioma
is_a: DOID:3165 ! skin benign neoplasm
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:2436
name: glomangioma
alt_id: DOID:9003557
alt_id: MIM:138000
def: "A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. (DO)" [https://medical-dictionary.thefreedictionary.com/glomangioma, https://pubmed.ncbi.nlm.nih.gov/21163162/ "DO"]
synonym: "Glomangiomas, Multiple" EXACT []
synonym: "Glomus Tumors, Multiple" EXACT []
synonym: "Glomus Vagale Tumors" EXACT []
synonym: "Glomuvenous Malformation" EXACT []
synonym: "Glomuvenous malformations" EXACT []
synonym: "GVM" EXACT []
synonym: "Venous Malformations With Glomus Cells" EXACT []
synonym: "VMGLOM" EXACT []
xref: ICDO:8712/0
xref: MESH:C536827
xref: NCI:C4222
xref: ORDO:83454
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050773 ! paraganglioma
is_a: DOID:2431 ! glomus tumor
is_a: DOID:5238 ! benign perivascular tumor
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:2438
name: dermis tumor
synonym: "dermis tumour" EXACT []
synonym: "neoplasm of dermis" EXACT []
synonym: "tumor of dermis" EXACT []
synonym: "tumour of dermis" EXACT []
xref: NCI:C4475
is_a: DOID:3165 ! skin benign neoplasm
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:2441
name: frontal sinus squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the frontal sinus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22169549 "DO"]
synonym: "Epidermoid carcinoma of the Frontal sinus" EXACT []
xref: NCI:C6067
xref: RDO:9002360
is_a: DOID:1360 ! frontal sinus cancer
is_a: DOID:1749 ! squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:2444
name: hyperpituitarism
def: "Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." [MESH:D006964]
synonym: "Inappropriate Follicle Stimulating Hormone Secretion" EXACT []
synonym: "Inappropriate FSH Secretion Syndrome" EXACT []
synonym: "Inappropriate LH Secretion Syndrome" EXACT []
synonym: "Inappropriate Luteinizing Hormone Secretion" EXACT []
synonym: "Inappropriate Thyroid Stimulating Hormone Secretion" EXACT []
synonym: "Inappropriate TSH Secretion Syndrome" EXACT []
synonym: "Pituitary FSH Hypersecretion" EXACT []
synonym: "Pituitary LH Hypersecretion" EXACT []
synonym: "Pituitary TSH Hypersecretion" EXACT []
xref: EFO:1000973
xref: MESH:D006964
is_a: DOID:53 ! pituitary gland disease

[Term]
id: DOID:2449
name: acromegaly
def: "A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. (DO)" [http://en.wikipedia.org/wiki/Acromegaly "DO", http://www.acromegaly.org/ "DO", http://www.mayoclinic.com/health/acromegaly/DS00478 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000321.htm "DO"]
synonym: "Inappropriate GH Secretion Syndrome (Acromegaly)" EXACT []
synonym: "Inappropriate Growth Hormone Secretion Syndrome (Acromegaly)" EXACT []
synonym: "somatotropin hypersecretion syndrome (acromegaly)" EXACT []
synonym: "somatotropin hypersecretion syndromes (acromegaly)" EXACT []
xref: EFO:1001485
xref: GARD:5725
xref: MESH:D000172
xref: NCI:C84533
is_a: DOID:2444 ! hyperpituitarism
is_a: DOID:9007819 ! Endocrine Bone Diseases

[Term]
id: DOID:2450
name: central retinal vein occlusion
def: "An obstruction occurring within the central retinal vein, which is the sole venous drainage source of the retina." []
synonym: "Central retinal vein thrombosis" EXACT []
synonym: "CRVO" EXACT []
synonym: "CRVT" EXACT []
xref: ICD10CM:H34.81
xref: ICD9CM:362.35
xref: NCI:C118859
xref: RDO:9000121
is_a: DOID:1727 ! retinal vein occlusion

[Term]
id: DOID:2451
name: protein S deficiency
def: "A thrombophilia that is characterized by increased risk of developing abnormal blood clots. (DO)" [https://medlineplus.gov/genetics/condition/protein-s-deficiency/ "DO"]
synonym: "hereditary thrombophilia due to protein S deficiency" EXACT []
synonym: "protein S deficiencies" EXACT []
synonym: "protein S deficiency disease" EXACT []
xref: GARD:4524
xref: MESH:D018455
xref: NCI:C99026
is_a: DOID:2452 ! thrombophilia
is_a: DOID:620 ! blood protein disease

[Term]
id: DOID:2452
name: thrombophilia
def: "A blood coagulation disease that is characterized by an increased tendency to form clots. (DO)" [https://en.wikipedia.org/wiki/Thrombophilia "DO", https://www.nhs.uk/conditions/thrombophilia/ "DO"]
synonym: "hypercoagulabilities" EXACT []
synonym: "hypercoagulability" EXACT []
synonym: "hypercoagulability state" EXACT []
synonym: "thrombophilias" EXACT []
xref: EFO:0009315
xref: ICD10CM:D68.59
xref: MESH:D019851
xref: MIM:PS188050
xref: NCI:C84479
is_a: DOID:1247 ! blood coagulation disease

[Term]
id: DOID:2455
name: angular blepharoconjunctivitis
def: "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. (DO)" [http://dro.hs.columbia.edu/angbleph.htm "DO"]
xref: ICD10CM:H10.52
xref: ICD9CM:372.21
xref: RDO:9003501
is_a: DOID:2456 ! blepharoconjunctivitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:2456
name: blepharoconjunctivitis
def: "A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. (DO)" [http://en.wikipedia.org/wiki/Conjunctivitis "DO"]
xref: ICD10CM:H10.5
xref: ICD9CM:372.2
xref: NCI:C34430
is_a: DOID:6195 ! conjunctivitis
is_a: DOID:9423 ! blepharitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:2457
name: giant papillary conjunctivitis
synonym: "giant papillary conjunctivitides" EXACT []
xref: GARD:8445
xref: NCI:C34507
is_a: DOID:2458 ! papillary conjunctivitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:2458
name: papillary conjunctivitis
xref: NCI:C35616
is_a: DOID:6195 ! conjunctivitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:2460
name: anterior dislocation of lens
xref: ICD10CM:H27.12
xref: ICD9CM:379.33
is_a: DOID:1242 ! globe disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:2462
name: retinal vascular disease
synonym: "retina circulation disorder" EXACT [CSP2005:1114-7471]
xref: NCI:C35170
xref: RDO:9002921
is_a: DOID:178 ! vascular disease
is_a: DOID:5679 ! retinal disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:2468
name: psychotic disorder
def: "A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. (DO)" [http://www.nlm.nih.gov/medlineplus/psychoticdisorders.html "DO"]
synonym: "brief reactive psychoses" EXACT []
synonym: "brief reactive psychosis" EXACT []
synonym: "juvenile onset psychosis" NARROW []
synonym: "mental or behavioural disorder" BROAD []
synonym: "psychoses" EXACT []
synonym: "psychosis" EXACT []
synonym: "psychotic disorders" EXACT []
synonym: "psychotic symptoms" RELATED []
xref: EFO:0000677
xref: EFO:0005407
xref: EFO:0005940
xref: ICD9CM:298.8
xref: MESH:D011618
xref: NCI:C78576
is_a: DOID:1561 ! cognitive disorder
is_a: DOID:9000439 ! Schizophrenia Spectrum and Other Psychotic Disorders

[Term]
id: DOID:2473
name: opportunistic mycosis
def: "A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. (DO)" [http://www.mycology.adelaide.edu.au/Mycoses/ "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006 "DO"]
synonym: "opportunistic mycoses" EXACT []
synonym: "opportunistic systemic mycoses" EXACT []
xref: ICD9CM:118
is_a: DOID:0050136 ! systemic mycosis
is_a: DOID:9002002 ! Opportunistic Infections
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:2474
name: vernal conjunctivitis
synonym: "vernal conjunctivitides" EXACT []
synonym: "vernal keratoconjunctivitides" EXACT []
synonym: "vernal keratoconjunctivitis" EXACT []
xref: GARD:7854
xref: ICD10CM:H10.44
xref: ICD9CM:372.13
xref: NCI:C34508
xref: RDO:9002739
is_a: DOID:11204 ! allergic conjunctivitis
is_a: DOID:2475 ! chronic conjunctivitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:2475
name: chronic conjunctivitis
def: "Long term inflammation of the conjunctiva, caused by a variety of agents." []
xref: ICD10CM:H10.4
xref: ICD9CM:372.1
xref: NCI:C35197
is_a: DOID:6195 ! conjunctivitis

[Term]
id: DOID:2476
name: hereditary spastic paraplegia
def: "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. (DO)" [http://en.wikipedia.org/wiki/Familial_spastic_paraplegia "DO"]
synonym: "autosomal dominant hereditary spastic paraplegia" NARROW []
synonym: "AUTOSOMAL RECESSIVE COMPLEX SPASTIC PARAPLEGIA" NARROW []
synonym: "Autosomal Recessive Hereditary Spastic Paraplegia" NARROW []
synonym: "Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant" EXACT []
synonym: "CMT with Pyramidal Features" EXACT []
synonym: "COMPLEX HEREDITARY SPASTIC PARAPLEGIA" NARROW []
synonym: "Dominant Spastic Paraplegia" NARROW []
synonym: "familial spastic paraplegia" EXACT []
synonym: "French settlement disease" EXACT []
synonym: "Hereditary Motor and Sensory Neuropathy 5" EXACT []
synonym: "hereditary motor and sensory neuropathy type V" EXACT []
synonym: "Hereditary Motor And Sensory Neuropathy V" EXACT []
synonym: "Hereditary Motor Sensory Neuropathy with Pyramidal Signs" EXACT []
synonym: "hereditary spastic paraparesis" EXACT []
synonym: "hereditary spastic paraplegias" EXACT []
synonym: "Hereditary X Linked Recessive Spastic Paraplegia" EXACT []
synonym: "HMSN 5" EXACT []
synonym: "HMSN Type V" EXACT []
synonym: "HMSN V" EXACT []
synonym: "HMSN V (Hereditary Motor and Sensory Neuropathy Type V)" EXACT []
synonym: "Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia" EXACT []
synonym: "peroneal muscular atrophy with pyramidal features, autosomal dominant" EXACT []
synonym: "PURE OR COMPLEX AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA" EXACT []
synonym: "recessive spastic paraplegia" NARROW []
synonym: "Strumpell-Lorrain disease" EXACT []
synonym: "X-linked hereditary spastic paraplegia" NARROW []
xref: EFO:0000529
xref: GARD:6637
xref: ICD9CM:334.1
xref: MESH:D015419
xref: MIM:PS303350
xref: MONDO:0019064
xref: NCI:C140267
is_a: DOID:2477 ! motor peripheral neuropathy
is_a: DOID:607 ! paraplegia

[Term]
id: DOID:2477
name: motor peripheral neuropathy
def: "A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves. (DO)" [https://www.ninds.nih.gov/health-information/disorders/peripheral-neuropathy "DO"]
synonym: "Herditary Sensory and Motor Neuropathy" EXACT []
synonym: "hereditary motor and sensory neuropathies" EXACT []
synonym: "hereditary motor and sensory neuropathy, type VII" EXACT []
synonym: "hereditary sensory and motor neuropathy" EXACT []
synonym: "HMSN" EXACT []
synonym: "HMSN Type VII" EXACT []
synonym: "HSMN" EXACT []
synonym: "HSMN - hereditary sensory and motor neuropathy" EXACT []
synonym: "neuropathic muscular atrophy" EXACT []
synonym: "sensory neuropathy with spastic paraplegia" NARROW []
xref: MESH:D015417
is_a: DOID:870 ! neuropathy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:2479
name: central nervous system origin vertigo
def: "A brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, has_symptom dizziness, has_symptom nausea, has_symptom vomiting and has_symptom difficulty walking. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26643594 "DO"]
synonym: "brain stem vertigo" EXACT []
synonym: "brainstem vertigo" EXACT []
synonym: "central origin vertigo" EXACT []
synonym: "central vestibular vertigo" EXACT []
synonym: "CNS origin vertigo" EXACT []
synonym: "vertigo of central origin" EXACT []
xref: ICD10CM:H81.4
xref: ICD9CM:386.2
is_a: DOID:9007736 ! Vertigo
is_a: DOID:936 ! brain disease

[Term]
id: DOID:248
name: trachea leiomyoma
def: "A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26026331 "DO"]
synonym: "leiomyoma of the trachea" EXACT []
xref: MESH:D014134
xref: MONDO:0002318
xref: NCI:C6049
is_a: DOID:0050621 ! respiratory system benign neoplasm
is_a: DOID:127 ! leiomyoma
is_a: DOID:9003134 ! tracheal neoplasm
is_a: DOID:9006169 ! Head and Neck Neoplasms

[Term]
id: DOID:2485
name: phosphorus metabolism disease
def: "Disorders in the processing of phosphorus in the body: its absorption, transport, storage, and utilization." [MESH:D010760]
synonym: "disorder of phosphorus metabolism" EXACT []
synonym: "Phosphorus disorder" EXACT []
synonym: "Phosphorus Metabolism Disorder" EXACT []
synonym: "Phosphorus Metabolism Disorders" EXACT []
xref: ICD9CM:275.3
xref: MESH:D010760
xref: NCI:C97095
xref: RDO:0006341
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:0050032 ! mineral metabolism disease

[Term]
id: DOID:2490
name: congenital nervous system abnormality
synonym: "congenital neurologic anomaly" EXACT []
xref: ICD9CM:742
is_a: DOID:0080015 ! physical disorder
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:2491
name: sensory peripheral neuropathy
def: "A neuropathy that involves damage to nerves of the peripheral nervous system. (DO)" [https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061 "DO"]
synonym: "sensory neuropathy" EXACT []
xref: ICD9CM:356.2
xref: MONDO:0002321
xref: NCI:C3501
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:870 ! neuropathy
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:2493
name: gastric antral vascular ectasia
def: "A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE." [MESH:D020252]
synonym: "Antral Vascular Ectasia" EXACT []
synonym: "Antral Vascular Ectasias" EXACT []
synonym: "Watermelon Stomach" EXACT []
synonym: "Watermelon Stomachs" EXACT []
xref: EFO:1000945
xref: MESH:D020252
xref: NCI:C84724
is_a: DOID:1271 ! capillary disease
is_a: DOID:2494 ! angiodysplasia
is_a: DOID:76 ! stomach disease

[Term]
id: DOID:2494
name: angiodysplasia
def: "A vascular disease that is characterized as a small vascular malformation of the gut. (DO)" [http://en.wikipedia.org/wiki/Angiodysplasia "DO"]
synonym: "angiodysplasia of stomach and duodenum with hemorrhage" EXACT []
synonym: "angiodysplasias" EXACT []
xref: MESH:D016888
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:2495
name: senile angioma
synonym: "Senile hemangioma" RELATED []
synonym: "Senile naevus of skin" RELATED []
xref: NCI:C4390
xref: RDO:9004815
is_a: DOID:471 ! skin hemangioma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:2497
name: enamel erosion
xref: ICD9CM:521.31
is_a: DOID:2498 ! tooth erosion

[Term]
id: DOID:2498
name: tooth erosion
def: "Progressive loss of the hard substance of a tooth by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)" [MESH:D014077]
synonym: "generalized erosion" EXACT []
synonym: "localized erosion" EXACT []
synonym: "Tooth Erosions" EXACT []
xref: ICD10CM:K03.2
xref: ICD9CM:521.3
xref: MESH:D014077
is_a: DOID:214 ! teeth hard tissue disease
is_a: DOID:9004104 ! Tooth Wear

[Term]
id: DOID:2508
name: Takayasu's arteritis
alt_id: MIM:207600
def: "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001250.htm "DO"]
synonym: "aortic arch arteritis" EXACT []
synonym: "aortitis syndrome" EXACT []
synonym: "idiopathic aortitis" EXACT []
synonym: "pulseless disease" EXACT []
synonym: "Takayasu's disease" EXACT []
synonym: "Takayasu arteritis" EXACT []
synonym: "Takayasu Disease" EXACT []
synonym: "Takayasus Arteritis" EXACT []
synonym: "Takayasu syndrome" EXACT []
synonym: "young female arteritides" EXACT []
synonym: "young female arteritis" EXACT []
xref: EFO:1001857
xref: GARD:7730
xref: ICD10CM:M31.4
xref: ICD9CM:446.7
xref: MESH:D013625
xref: NCI:C34391
xref: NCI:C35062
is_a: DOID:9001364 ! Aortic Arch Syndromes
is_a: DOID:9002564 ! Arteritis
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:251
name: alcohol-induced mental disorder
def: "Disorders stemming from the misuse and abuse of alcohol." [MESH:D020751]
synonym: "alcohol-induced disorder" EXACT []
synonym: "alcohol-induced disorders" EXACT []
xref: ICD9CM:291.89
xref: MESH:D020751
is_a: DOID:8646 ! substance-induced psychosis
is_a: DOID:9007727 ! Alcohol-Induced Disorders, Nervous System

[Term]
id: DOID:2510
name: Kluver-Bucy syndrome
def: "An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior. (DO)" [http://en.wikipedia.org/wiki/Kl%C3%BCver%E2%80%93Bucy_syndrome "DO", http://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm "DO"]
synonym: "Klver-Bucy syndrome" EXACT []
synonym: "temporal lobectomy behavior syndrome" EXACT []
xref: EFO:0007335
xref: MESH:D020232
xref: NCI:C84802
is_a: DOID:10937 ! impulse control disorder
is_a: DOID:1307 ! dementia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:2512
name: nevoid basal cell carcinoma syndrome
def: "A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities. (DO)" [https://medlineplus.gov/genetics/condition/gorlin-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/11932998/ "DO"]
synonym: "basal cell nevus syndrome" EXACT []
synonym: "BCNS" EXACT []
synonym: "fifth phacomatoses" EXACT []
synonym: "fifth phacomatosis" EXACT []
synonym: "Gorlin-Goltz Syndrome" EXACT []
synonym: "Gorlin syndrome" EXACT []
synonym: "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies" EXACT []
synonym: "NBCCS" EXACT []
xref: EFO:0004136
xref: GARD:7166
xref: MESH:D001478
xref: MIM:PS109400
xref: MONDO:0007187
xref: NCI:C2892
xref: ORDO:377
is_a: DOID:0080006 ! bone development disease
is_a: DOID:2513 ! basal cell carcinoma
is_a: DOID:9002504 ! Odontogenic Cysts
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:2513
name: basal cell carcinoma
alt_id: MIM:605462
alt_id: MIM:613058
alt_id: MIM:613059
alt_id: MIM:613061
alt_id: MIM:613062
alt_id: MIM:613063
alt_id: MIM:614740
def: "A skin carcinoma affecting basal cells. (DO)" [http://en.wikipedia.org/wiki/Basal-cell_carcinoma "DO"]
synonym: "Basal Cell Cancer" EXACT []
synonym: "basal cell cancers" EXACT []
synonym: "basal cell carcinoma of skin" EXACT []
synonym: "basal cell carcinomas" EXACT []
synonym: "BASAL CELL CARCINOMA, SOMATIC" NARROW []
synonym: "BASAL CELL CARCINOMA, SPORADIC" NARROW []
synonym: "basal cell carcinoma, susceptibility to, 1" RELATED []
synonym: "basal cell carcinoma, susceptibility to, 2" RELATED []
synonym: "basal cell carcinoma, susceptibility to, 3" RELATED []
synonym: "basal cell carcinoma, susceptibility to, 4" RELATED []
synonym: "basal cell carcinoma, susceptibility to, 5" RELATED []
synonym: "basal cell carcinoma, susceptibility to, 6" RELATED []
synonym: "basal cell carcinoma, susceptibility to, 7" RELATED []
synonym: "basal cell epithelioma" EXACT []
synonym: "Basal Cell Epitheliomas" EXACT []
synonym: "Basal cell tumor" EXACT []
synonym: "BCC1" RELATED []
synonym: "BCC2" RELATED []
synonym: "BCC3" RELATED []
synonym: "BCC4" RELATED []
synonym: "BCC5" RELATED []
synonym: "BCC6" RELATED []
synonym: "BCC7" RELATED []
synonym: "malignant basal cell neoplasm" EXACT []
synonym: "malignant basal cell tumor" EXACT []
synonym: "PTCH2-RELATED CONDITION" BROAD []
synonym: "rodent ulcer" EXACT []
synonym: "rodent ulcers" EXACT []
xref: EFO:0004193
xref: ICDO:8090/3
xref: MESH:D002280
xref: NCI:C134570
xref: NCI:C156767
xref: NCI:C2921
xref: NCI:C3784
xref: NCI:C7586
is_a: DOID:3451 ! skin carcinoma
is_a: DOID:9003929 ! Basal Cell Neoplasms

[Term]
id: DOID:2516
name: intracranial cavernous angioma
synonym: "intracranial cavernoma" EXACT []
xref: NCI:C5432
is_a: DOID:0060085 ! organ system benign neoplasm
is_a: DOID:2517 ! intracranial structure hemangioma
is_a: DOID:483 ! cavernous hemangioma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:2517
name: intracranial structure hemangioma
synonym: "angioma of intracranial structure" EXACT []
synonym: "hemangioma of intracranial structure" EXACT []
synonym: "hemangioma of intracranial structures" EXACT []
xref: ICD10CM:D18.02
xref: ICD9CM:228.02
xref: NCI:C3633
is_a: DOID:255 ! hemangioma

[Term]
id: DOID:2518
name: orchitis
def: "Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD." [MESH:D009920]
synonym: "inflammation of testis" EXACT []
synonym: "Orchitides" EXACT []
synonym: "orchititis" EXACT []
xref: EFO:1001078
xref: ICD10CM:N45.2
xref: MESH:D009920
xref: NCI:C97145
is_a: DOID:2519 ! testicular disease

[Term]
id: DOID:2519
name: testicular disease
def: "Pathological processes of the TESTIS." [MESH:D013733]
synonym: "disorder of testis" EXACT []
synonym: "testicular diseases" EXACT []
synonym: "testis disorder" EXACT []
xref: EFO:0009601
xref: MESH:D013733
xref: NCI:C26890
is_a: DOID:2277 ! gonadal disease
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:252
name: alcoholic psychosis
def: "An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459134/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/22611692 "DO"]
synonym: "alcoholic psychoses" EXACT []
xref: EFO:1001260
xref: ICD9CM:291.9
xref: MESH:D011604
is_a: DOID:251 ! alcohol-induced mental disorder

[Term]
id: DOID:2526
name: prostate adenocarcinoma
alt_id: MIM:601188
def: "A prostate carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://cancergenome.nih.gov/cancersselected/prostatecancer "DO", http://en.wikipedia.org/wiki/Adenocarcinoma "DO", http://en.wikipedia.org/wiki/Prostate_cancer "DO"]
synonym: "adenocarcinoma of prostate" EXACT []
synonym: "prostatic adenocarcinoma" EXACT []
xref: EFO:0000673
xref: NCI:C2919
is_a: DOID:10286 ! prostate carcinoma
is_a: DOID:299 ! adenocarcinoma

[Term]
id: DOID:2527
name: nephrosis
def: "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation. (DO)" [https://en.wikipedia.org/wiki/Nephrosis "DO"]
synonym: "nephroses" EXACT []
xref: MESH:D009401
is_a: DOID:576 ! proteinuria

[Term]
id: DOID:2529
name: splenic disease
def: "Diseases involving the SPLEEN." [MESH:D013158]
synonym: "dyssplenism" EXACT []
synonym: "spleen disease" EXACT []
synonym: "splenic diseases" EXACT []
xref: EFO:0009002
xref: ICD10CM:D73
xref: ICD9CM:289.50
xref: MESH:D013158
xref: NCI:C35823
is_a: DOID:75 ! lymphatic system disease

[Term]
id: DOID:2530
name: splenic abscess
xref: ICD10CM:D73.3
xref: NCI:C35347
xref: RDO:9003944
is_a: DOID:2529 ! splenic disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:2531
name: hematologic cancer
def: "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. (DO)" [http://en.wikipedia.org/wiki/Blood_cancer "DO", http://www.cancer.gov/dictionary/?CdrID=45708 "DO"]
synonym: "blood cancer" EXACT []
synonym: "hematological malignancies" EXACT []
synonym: "hematological malignancy" EXACT []
synonym: "hematological tumors" EXACT []
synonym: "hematologic malignancies" EXACT []
synonym: "hematologic malignancy" EXACT []
synonym: "hematopoietic and lymphoid system tumor" EXACT []
synonym: "hematopoietic cancer" EXACT []
synonym: "hematopoietic tumors" EXACT []
synonym: "malignant hematopoietic neoplasm" EXACT []
xref: NCI:C27134
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:9006532 ! Hematologic Neoplasms
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:2533
name: splenic infarction
def: "Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" [MESH:D013159]
synonym: "infarct of the spleen" EXACT []
synonym: "Infarct, Splenic" EXACT []
synonym: "Splenic Infarctions" EXACT []
synonym: "splenic infarcts" EXACT []
xref: EFO:1001190
xref: GARD:9973
xref: ICD10CM:D73.5
xref: MESH:D013159
is_a: DOID:178 ! vascular disease
is_a: DOID:2529 ! splenic disease

[Term]
id: DOID:2536
name: chronic inflammatory demyelinating polyneuritis
xref: NCI:C84636
xref: RDO:9002723
is_a: DOID:2537 ! inflammatory and toxic neuropathy
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:2537
name: inflammatory and toxic neuropathy
def: "A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21897232/ "DO"]
xref: ICD9CM:357
is_a: DOID:870 ! neuropathy
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:2538
name: Landau-Kleffner syndrome
def: "A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients. (DO)" [https://rarediseases.org/rare-diseases/landau-kleffner-syndrome/ "DO"]
synonym: "acquired aphasia with convulsive disorder" EXACT []
synonym: "Acquired Aphasia with Epilepsy" EXACT []
synonym: "Acquired Childhoood Aphasia with Convulsive Disorder" EXACT []
synonym: "Acquired Epileptic Aphasia" EXACT []
synonym: "Acquired Epileptic Aphasias" EXACT []
synonym: "Acquired Epileptiform Aphasia" EXACT []
synonym: "Acquired Epileptiform Aphasias" EXACT []
synonym: "Landau Kleffner acquired epileptiform aphasia" EXACT []
synonym: "LKS" EXACT []
xref: EFO:1001010
xref: GARD:6855
xref: ICD10CM:G40.8
xref: MESH:D018887
xref: NCI:C84806
xref: ORDO:98818
is_a: DOID:0050704 ! childhood electroclinical syndrome

[Term]
id: DOID:254
name: hemangioma of intra-abdominal structure
synonym: "hemangioma, Intra-abdominal" EXACT [NCI2004_11_17:C3635]
synonym: "hemangioma of intra-abdominal structures" EXACT []
xref: ICD10CM:D18.03
xref: ICD9CM:228.04
xref: NCI:C3635
xref: RDO:9002898
is_a: DOID:255 ! hemangioma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:2544
name: extratemporal epilepsy
def: "An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe. (DO)" [http://www.webmd.com/epilepsy/extratemporal-cortical-resection "DO"]
xref: NCI:C7760
is_a: DOID:1826 ! epilepsy
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:2548
name: reflex epilepsy
alt_id: MIM:132300
def: "A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779309/ "DO"]
synonym: "AGS" EXACT []
synonym: "Cursive Epilepsy" EXACT []
synonym: "cursive reflex epilepsies (running)" EXACT []
synonym: "Cursive Reflex Epilepsy (Running)" EXACT []
synonym: "Decision Making Reflex Epilepsy" EXACT []
synonym: "eating-induced epilepsies" EXACT []
synonym: "Eating Induced Epilepsy" EXACT []
synonym: "Eating-Induced Reflex Epilepsies" EXACT []
synonym: "Eating-Induced Reflex Epilepsy" EXACT []
synonym: "Epilepsies, Cursive" EXACT []
synonym: "epilepsy, sensory-induced" EXACT []
synonym: "Immersion Related Epilepsies" EXACT []
synonym: "Immersion Related Epilepsy" EXACT []
synonym: "Musicogenic Epilepsies" EXACT []
synonym: "Musicogenic Epilepsy" EXACT []
synonym: "Musicogenic Reflex Epilepsies" EXACT []
synonym: "Musicogenic Reflex Epilepsy" EXACT []
synonym: "Photosensitive Reflex Epilepsies" EXACT []
synonym: "Photosensitive Reflex Epilepsy" EXACT []
synonym: "Reading Epilepsies" EXACT []
synonym: "Reading Epilepsy" EXACT []
synonym: "Reading Reflex Epilepsies" EXACT []
synonym: "Reading Reflex Epilepsy" EXACT []
synonym: "Reflex Epilepsies" EXACT []
synonym: "visual pattern reflex epilepsy" EXACT []
synonym: "writing-induced reflex epilepsies" EXACT []
synonym: "writing-induced reflex epilepsy" EXACT []
xref: EFO:1001146
xref: MESH:D020195
xref: NCI:C85041
is_a: DOID:0050706 ! variable age at onset electroclinical syndrome

[Term]
id: DOID:255
name: hemangioma
def: "A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood. (DO)" [http://en.wikipedia.org/wiki/Hemangioma "DO"]
synonym: "angioma" EXACT []
synonym: "chorangioma" EXACT []
synonym: "chorangiomas" EXACT []
synonym: "glabellar hemangioma" NARROW []
synonym: "hemangiomas" EXACT []
xref: EFO:0009908
xref: EFO:1000635
xref: ICD9CM:228.00
xref: ICDO:9120/0
xref: MESH:D006391
xref: NCI:C3085
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:0060091 ! cardiovascular organ benign neoplasm
is_a: DOID:9006948 ! Vascular Tissue Neoplasms

[Term]
id: DOID:2550
name: tactile epilepsy
xref: NCI:C4687
is_a: DOID:2548 ! reflex epilepsy
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:2555
name: granulomatous angiitis
synonym: "granulomatous angiitis of CNS" EXACT []
synonym: "granulomatous angiitis of the central nervous system" EXACT []
synonym: "granulomatous angiitis of the nervous system" EXACT []
xref: MESH:C537295
xref: NCI:C34653
is_a: DOID:525 ! central nervous system vasculitis
is_a: DOID:865 ! vasculitis

[Term]
id: DOID:2556
name: relapsing polychondritis
def: "A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26711694/ "DO", https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis "DO"]
synonym: "chondromalacia, systemic" EXACT []
synonym: "chronic atrophic polychondritides" EXACT []
synonym: "chronic atrophic polychondritis" EXACT []
synonym: "relapsing polychondritides" EXACT []
xref: EFO:1001148
xref: GARD:7417
xref: ICD10CM:M94.1
xref: MESH:D011081
xref: NCI:C157268
is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system
is_a: DOID:2557 ! chondromalacia

[Term]
id: DOID:2557
name: chondromalacia
def: "A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint. (DO)" [https://www.health.harvard.edu/a_to_z/chondromalacia-a-to-z "DO"]
synonym: "chondromalacias" EXACT []
xref: ICD10CM:M94.2
xref: ICD9CM:733.92
xref: MONDO:0002342
is_a: DOID:6227 ! articular cartilage disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:2559
name: opiate dependence
alt_id: MIM:610064
def: "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Opiate_dependency "DO"]
synonym: "Disorder, Opioid-Related" EXACT []
synonym: "Narcotic Abuse" EXACT []
synonym: "Narcotic Abuses" EXACT []
synonym: "Narcotic Addiction" EXACT []
synonym: "Narcotic Dependence" EXACT []
synonym: "ODS1" EXACT []
synonym: "Opiate Addiction" EXACT []
synonym: "opioid addiction" EXACT []
synonym: "opioid dependence" EXACT []
synonym: "OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1" RELATED []
synonym: "Opioid-Related Disorders" EXACT []
synonym: "opioid type dependence" EXACT []
xref: EFO:0005611
xref: ICD10CM:F11.2
xref: ICD9CM:304.00
xref: MESH:D009293
is_a: DOID:9004719 ! Narcotic-Related Disorders
is_a: DOID:9974 ! drug dependence

[Term]
id: DOID:256
name: hemangioma of spleen
synonym: "splenic hemangioma" EXACT []
xref: NCI:C8541
is_a: DOID:0060092 ! immune system organ benign neoplasm
is_a: DOID:2529 ! splenic disease
is_a: DOID:254 ! hemangioma of intra-abdominal structure
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:2560
name: morphine dependence
def: "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Opioid_dependence "DO"]
synonym: "morphine abuse" EXACT []
synonym: "morphine addiction" EXACT []
xref: EFO:0005612
xref: MESH:D009021
is_a: DOID:2559 ! opiate dependence

[Term]
id: DOID:2562
name: suppurative periapical periodontitis
def: "Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)" [MESH:D010482]
synonym: "apical abscess" EXACT []
synonym: "Apical Alveolar Abscess" EXACT []
synonym: "apical alveolar abscesses" EXACT []
synonym: "Apical Dentoalveolar Abscess" EXACT []
synonym: "Apical Dentoalveolar Abscesses" EXACT []
synonym: "Dentoalveolar abscess" EXACT []
synonym: "Periapical Abscess" EXACT []
synonym: "Periapical Abscesses" EXACT []
synonym: "Periodontitis, Apical, Suppurative" EXACT []
synonym: "suppurative periapical periodontitides" EXACT []
xref: EFO:1001202
xref: MESH:D010482
xref: NCI:C34913
is_a: DOID:823 ! periapical periodontitis
is_a: DOID:9000325 ! Abscess

[Term]
id: DOID:2565
name: macular corneal dystrophy
alt_id: MESH:C537834
alt_id: MESH:C563270
alt_id: OMIA:002071
def: "A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. (DO)" [http://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular "DO", http://en.wikipedia.org/wiki/Macular_corneal_dystrophy "DO", http://www.omim.org/entry/217800?search=217800&highlight=217800 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11017086 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17093400 "DO"]
synonym: "corneal dystrophy, macular type" EXACT []
synonym: "corneal macular dystrophies" EXACT []
synonym: "Fehr corneal dystrophy" EXACT []
synonym: "Groenouw type II corneal dystrophy" EXACT []
synonym: "macular corneal dystrophy 1" NARROW []
synonym: "Macular Corneal Dystrophy Type 1" NARROW []
synonym: "Macular Corneal Dystrophy, Type I" NARROW []
synonym: "macular corneal dystrophy type II" NARROW []
synonym: "MCD" EXACT []
synonym: "MCDC1" NARROW []
xref: ICD10CM:H18.55
xref: ICD9CM:371.55
xref: MIM:217800
xref: NCI:C34793
is_a: DOID:0060442 ! stromal dystrophy

[Term]
id: DOID:2566
name: corneal dystrophy
def: "Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect." [MESH:D003317]
synonym: "CORNEAL DYSTROPHY, DOMINANT" NARROW []
synonym: "CORNEAL DYSTROPHY, DOMINANT/RECESSIVE" EXACT []
synonym: "CORNEAL DYSTROPHY, RECESSIVE" NARROW []
synonym: "Corneal Granular Dystrophies" NARROW []
synonym: "Corneal Granular Dystrophy" NARROW []
synonym: "Corneal Stromal Dystrophies" EXACT []
synonym: "Corneal Stromal Dystrophy" EXACT []
synonym: "Groenouw's Dystrophies" EXACT []
synonym: "Groenouw Dystrophies" EXACT []
synonym: "Groenouws dystrophies" EXACT []
synonym: "hereditary corneal dystrophies" EXACT []
synonym: "hereditary corneal dystrophy" EXACT []
xref: ICD9CM:371.5
xref: MESH:D003317
xref: NCI:C34512
xref: NCI:C34513
is_a: DOID:10124 ! corneal disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:2568
name: cervicitis
def: "A cervix disease that is characterized by inflammation of the cervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23584805 "DO"]
synonym: "cervicitides" EXACT []
synonym: "uterine cervicitides" EXACT []
synonym: "uterine cervicitis" EXACT []
xref: ICD10CM:N72
xref: ICD9CM:616.0
xref: MESH:D002575
xref: NCI:C26716
is_a: DOID:2253 ! cervix disease

[Term]
id: DOID:2569
name: retinal drusen
def: "Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." [MESH:D015593]
xref: EFO:1001155
xref: ICD9CM:362.57
xref: MESH:D015593
is_a: DOID:2007 ! degeneration of macula and posterior pole
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:2570
name: malignant histiocytic disease
def: "Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of MACROPHAGES and DENDRITIC CELLS." [MESH:D015620]
synonym: "Malignant Histiocytic Disorder" EXACT []
xref: MESH:D015620
xref: RDO:0006909
is_a: DOID:3405 ! histiocytosis
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:2571
name: Langerhans-cell histiocytosis
alt_id: MIM:604856
def: "A histiocytosis that is characterized by clonal proliferation of Langerhans cells. (DO)" [http://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis "DO"]
synonym: "generalized histiocytoses" EXACT []
synonym: "Generalized Histiocytosis" EXACT []
synonym: "Hand Schueller Christian Disease" EXACT []
synonym: "Hand Schueller Christian Syndrome" EXACT []
synonym: "Hand Schüller Christian Disease" EXACT []
synonym: "Hand Schüller Christian Syndrome" EXACT []
synonym: "Hashimoto-Pritzger Disease" EXACT []
synonym: "Histiocytosis X" EXACT []
synonym: "Langerhan's cell histiocytosis" EXACT []
synonym: "Langerhans cell granulomatoses" EXACT []
synonym: "Langerhans Cell Granulomatosis" EXACT []
synonym: "Langerhans cell histiocytoses" EXACT []
synonym: "Letterer Siwe Disease" EXACT []
synonym: "Letterer-Siwe disease involving intra-abdominal lymph nodes" EXACT []
synonym: "Letterer-Siwe disease involving intrapelvic lymph nodes" EXACT []
synonym: "Letterer-Siwe disease involving intrathoracic lymph nodes" EXACT []
synonym: "Letterer-Siwe disease involving lymph nodes of axilla and upper limb" EXACT []
synonym: "Letterer-Siwe disease involving lymph nodes of head, face, and neck" EXACT []
synonym: "Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb" EXACT []
synonym: "Letterer-Siwe disease involving lymph nodes of multiple sites" EXACT []
synonym: "Letterer-Siwe disease involving spleen" EXACT []
synonym: "Letterer-Siwe disease of intra-abdominal lymph nodes" EXACT []
synonym: "Letterer-Siwe disease of intrapelvic lymph nodes" EXACT []
synonym: "Letterer-Siwe disease of intrathoracic lymph nodes" EXACT []
synonym: "Letterer-Siwe disease of lymph nodes of axilla and/or upper limb" EXACT []
synonym: "Letterer-Siwe disease of lymph nodes of axilla and upper limb" EXACT []
synonym: "Letterer-Siwe disease of lymph nodes of head, face and/or neck" NARROW []
synonym: "Letterer-Siwe disease of lymph nodes of head, face and neck" EXACT []
synonym: "Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb" NARROW []
synonym: "Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb" NARROW []
synonym: "Letterer-Siwe disease of lymph nodes of inguinal region and lower limb" NARROW []
synonym: "Letterer-Siwe disease of lymph nodes of multiple sites" NARROW []
synonym: "Letterer-Siwe disease of spleen" NARROW []
synonym: "Non-Lipid Reticuloendothelioses" EXACT []
synonym: "Non Lipid Reticuloendotheliosis" EXACT []
synonym: "Pulmonary Histiocytosis X" EXACT []
synonym: "Pulmonary Langerhans Cell Granulomatosis" EXACT []
synonym: "Schueller Christian Disease" EXACT []
synonym: "Systemic Aleukemic Reticuloendothelioses" EXACT []
synonym: "systemic aleukemic reticuloendotheliosis" EXACT []
synonym: "type 2 histiocytoses" EXACT []
synonym: "type 2 histiocytosis" EXACT []
xref: EFO:1000318
xref: ICD10CM:C96.0
xref: ICD10CM:C96.6
xref: ICD9CM:202.5
xref: ICDO:9751/1
xref: MESH:D006646
xref: NCI:C158785
xref: NCI:C3107
xref: NCI:C3160
xref: NCI:C6920
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:3405 ! histiocytosis

[Term]
id: DOID:2575
name: barbiturate dependence
def: "A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Barbiturate_dependence "DO"]
xref: ICD9CM:304.11
xref: RDO:9002639
is_a: DOID:9974 ! drug dependence
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:2580
name: rhizomelic chondrodysplasia punctata
def: "A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. (DO)" [http://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata "DO", http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata "DO", https://www.ncbi.nlm.nih.gov/pubmed/15679822 "DO"]
synonym: "chondrodysplasia punctata, rhizomelic form" EXACT []
synonym: "rhizomelic chondrodysplasia punctatas" EXACT []
xref: GARD:13160
xref: ICD10CM:E71.540
xref: MESH:D018902
xref: MIM:PS215100
xref: NCI:C85047
xref: ORDO:177
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2581 ! chondrodysplasia punctata
is_a: DOID:906 ! peroxisomal disease

[Term]
id: DOID:2581
name: chondrodysplasia punctata
alt_id: MESH:C565853
alt_id: MIM:215105
def: "A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. (DO)" [https://en.wikipedia.org/wiki/Chondrodysplasia_punctata#cite_note-Fitz2-1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22229330 "DO"]
synonym: "chondrodysplasia calcificans congenita" EXACT []
synonym: "chondrodysplasia punctata congenita" EXACT []
synonym: "chondrodysplasia punctata syndrome" EXACT []
synonym: "chondrodystrophia calcificans congenita" EXACT []
synonym: "dysplasia epiphysialis punctata" EXACT []
synonym: "stippled epiphyses" EXACT []
xref: GARD:8542
xref: MESH:D002806
xref: NCI:C84632
xref: ORDO:93442
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:2582
name: acatalasia
alt_id: MIM:614097
alt_id: OMIA:001138
def: "A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1999334/ "DO"]
synonym: "Acatalasemia" EXACT []
synonym: "Acatalasemia Japanese Type" EXACT []
synonym: "Acatalasemia Swiss Type" EXACT []
synonym: "Catalase Deficiencies" EXACT []
synonym: "Catalase Deficiency" EXACT []
synonym: "deficiency of catalase" EXACT []
synonym: "Hypocatalasemia" EXACT []
synonym: "Hypocatalasia" EXACT []
synonym: "Takahara's Disease" EXACT []
synonym: "Takahara Disease" EXACT []
synonym: "Takaharas Disease" EXACT []
xref: EFO:0004144
xref: GARD:363
xref: MESH:D020642
xref: NCI:C84526
xref: ORDO:926
is_a: DOID:906 ! peroxisomal disease

[Term]
id: DOID:2583
name: agammaglobulinemia
def: "A B cell deficiency that is caused by a reduction in all types of gamma globulins. (DO)" [http://en.wikipedia.org/wiki/Dysgammaglobulinemia "DO"]
synonym: "agammaglobulinemias" EXACT []
synonym: "hypogammaglobulinemia" EXACT []
synonym: "hypogammaglobulinemias" EXACT []
synonym: "IGHM" NARROW []
synonym: "mu heavy chain deficiency" EXACT []
xref: ICD10CM:D80.1
xref: ICD9CM:279.00
xref: MESH:D000361
xref: MIM:PS601495
xref: NCI:C26931
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:2115 ! B cell deficiency
is_a: DOID:620 ! blood protein disease

[Term]
id: DOID:2590
name: familial nephrotic syndrome
def: "A nephrotic syndrome that has_material_basis_in genetic mutations. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19066979 "DO"]
synonym: "CNF" EXACT []
synonym: "congenital nephrosis" EXACT []
synonym: "congenital nephrotic syndrome" EXACT []
synonym: "genetic nephrotic syndrome" EXACT []
synonym: "hereditary nephrotic syndrome" EXACT []
synonym: "hereditary nephrotic syndromes" EXACT []
xref: ICD10CM:N04
xref: MESH:C535761
xref: MIM:PS256300
xref: NCI:C35337
xref: ORDO:564127
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:1184 ! nephrotic syndrome

[Term]
id: DOID:2595
name: glottis cancer
synonym: "Ca larynx - glottis" EXACT []
synonym: "malignant tumor of glottis" EXACT []
synonym: "malignant tumor of the Glottis" EXACT []
xref: ICD10CM:C32.0
xref: ICD9CM:161.0
xref: NCI:C3544
is_a: DOID:2596 ! larynx cancer
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:2596
name: larynx cancer
def: "A respiratory system cancer that is located_in the larynx. (DO)" [http://en.wikipedia.org/wiki/Larynx "DO"]
synonym: "laryngeal cancer" EXACT []
synonym: "laryngeal cancers" EXACT []
synonym: "larynx cancers" EXACT []
synonym: "Malignant Laryngeal Neoplasm" EXACT []
xref: EFO:0003817
xref: EFO:1000354
xref: GARD:6862
xref: ICD10CM:C32
xref: ICD9CM:161
xref: NCI:C7484
is_a: DOID:0050615 ! respiratory system cancer
is_a: DOID:9003613 ! Laryngeal Neoplasms

[Term]
id: DOID:2597
name: glottis neoplasm
synonym: "neoplasm of glottis" EXACT []
synonym: "tumor of the glottis" EXACT []
xref: MONDO:0002353
xref: NCI:C4425
is_a: DOID:2598 ! laryngeal benign neoplasm

[Term]
id: DOID:2598
name: laryngeal benign neoplasm
xref: NCI:C3156
is_a: DOID:0050621 ! respiratory system benign neoplasm
is_a: DOID:9003613 ! Laryngeal Neoplasms

[Term]
id: DOID:2599
name: glottis carcinoma
synonym: "carcinoma of glottis" EXACT []
synonym: "Glottic carcinoma" EXACT []
xref: NCI:C4923
xref: RDO:9002225
is_a: DOID:2595 ! glottis cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:26
name: pancreas disease
def: "An endocrine system disease that is located_in the pancreas. (DO)" [http://en.wikipedia.org/wiki/Pancreatic_disease "DO"]
synonym: "pancreatic disease" EXACT []
synonym: "pancreatic diseases" EXACT []
xref: EFO:0009605
xref: ICD10CM:K86.8
xref: ICD10CM:K86.89
xref: ICD9CM:577.8
xref: MESH:D010182
is_a: DOID:28 ! endocrine system disease
is_a: DOID:77 ! gastrointestinal system disease

[Term]
id: DOID:260
name: hepatic flexure cancer
synonym: "Ca hepatic flexure - colon" EXACT []
synonym: "malignant neoplasm of hepatic flexure" EXACT []
synonym: "malignant tumor of hepatic flexure" EXACT []
xref: ICD10CM:C18.3
xref: ICD9CM:153.0
is_a: DOID:218 ! ascending colon cancer
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:2600
name: laryngeal carcinoma
def: "A larynx cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "cancer of larynx" BROAD []
synonym: "carcinoma of larynx" EXACT []
xref: NCI:C4855
is_a: DOID:2596 ! larynx cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2601
name: juxtacortical chondroma
synonym: "periosteal chondroma" EXACT []
xref: NCI:C4302
is_a: DOID:2602 ! chondroma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:2602
name: chondroma
def: "A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. (DO)" [http://en.wikipedia.org/wiki/Chondroma "DO"]
synonym: "central chondroma" EXACT []
synonym: "Chondromas" EXACT []
synonym: "Enchondroma" EXACT []
synonym: "Enchondromas" EXACT []
xref: GARD:6052
xref: ICDO:9220/0
xref: MESH:D002812
xref: NCI:C3007
xref: NCI:C53459
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:9003944 ! Connective Tissue Neoplasms

[Term]
id: DOID:2609
name: adenomyoma
def: "A cell type benign neoplasm that has_material_basis_in gland and muscle components. (DO)" [http://en.wikipedia.org/wiki/Adenomyoma "DO"]
synonym: "adenomyomas" EXACT []
xref: EFO:0007133
xref: ICDO:8932/0
xref: MESH:D018194
xref: NCI:C3726
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:461 ! muscle benign neoplasm
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:261
name: transverse colon cancer
synonym: "Ca transverse colon" EXACT []
synonym: "malignant tumor of transverse colon" EXACT [SNOMEDCT_2005_07_31:363408006]
xref: ICD10CM:C18.4
xref: ICD9CM:153.1
xref: RDO:9004769
is_a: DOID:219 ! colon cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:2614
name: serous surface papilloma
xref: ICDO:8461/0
xref: NCI:C4181
is_a: DOID:2615 ! papilloma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2615
name: papilloma
def: "A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue. (DO)" [http://www.merriam-webster.com/medlineplus/papilloma "DO"]
synonym: "Lung Papilloma" NARROW []
synonym: "papillomas" EXACT []
synonym: "papillomatoses" EXACT []
synonym: "papillomatosis" EXACT []
xref: EFO:1000335
xref: ICDO:8050/0
xref: MESH:D010212
xref: NCI:C24015
xref: NCI:C3713
xref: NCI:C7440
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:3168 ! squamous cell neoplasm

[Term]
id: DOID:2616
name: Wolffian duct adenoma
def: "A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14515653 "DO"]
synonym: "benign mesonephroma" EXACT []
synonym: "mesonephric adenoma" EXACT []
xref: NCI:C4294
is_a: DOID:0050622 ! reproductive organ benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:262
name: kidney hemangiopericytoma
def: "A kidney cancer which is manifested in the kidney. (DO)" [http://en.wikipedia.org/wiki/Hemangiopericytoma "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1466284/ "DO"]
synonym: "hemangiopericytoma of kidney" EXACT []
synonym: "renal hemangiopericytoma" EXACT []
xref: NCI:C4527
is_a: DOID:263 ! kidney cancer
is_a: DOID:264 ! hemangiopericytoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:2621
name: autonomic nervous system neoplasm
def: "A peripheral nervous system neoplasm that is located_in the autonomic nervous system. (DO)" [http://en.wikipedia.org/wiki/Autonomic_nervous_system "DO"]
synonym: "tumor of autonomic nervous system" EXACT []
xref: NCI:C5112
is_a: DOID:1192 ! peripheral nervous system neoplasm
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2626
name: choroid plexus papilloma
alt_id: MIM:260500
def: "A usually benign neoplasm that arises from the cuboidal epithelium of the choroid plexus and takes the form of an enlarged CHOROID PLEXUS, which may be associated with oversecretion of CSF. The tumor usually presents in the first decade of life with signs of increased intracranial pressure including HEADACHES; ATAXIA; DIPLOPIA; and alterations of mental status. In children it is most common in the lateral ventricles and in adults it tends to arise in the fourth ventricle. Malignant transformation to choroid plexus carcinomas may rarely occur. (Adams et al., Principles of Neurology, 6th ed, p667; DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072)" [MESH:D020288]
synonym: "childhood choroid plexus papilloma" EXACT []
synonym: "childhood papilloma of choroid plexus" RELATED []
synonym: "choroid plexus papilloma, no ICD-O subtype" EXACT [SNOMEDCT_2005_07_31:18021007]
synonym: "choroid plexus papillomas" EXACT []
synonym: "CPP" EXACT []
synonym: "papilloma of choroid plexus" EXACT []
synonym: "papilloma of the choroid plexus" EXACT []
synonym: "pediatric papilloma of choroid plexus" EXACT [NCI2004_11_17:C5800]
xref: EFO:1000177
xref: GARD:4214
xref: ICDO:9390/0
xref: MESH:D020288
xref: NCI:C3698
xref: NCI:C5800
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:2615 ! papilloma
is_a: DOID:60007 ! cerebrovascular benign neoplasm
is_a: DOID:9000080 ! Choroid Plexus Neoplasms

[Term]
id: DOID:263
name: kidney cancer
alt_id: DOID:3676
def: "A urinary system cancer that is located_in the kidney. (DO)" [http://en.wikipedia.org/wiki/Kidney_cancer "DO"]
synonym: "cancer of kidney" EXACT []
synonym: "cancer of the kidney" EXACT []
synonym: "kidney cancers" EXACT []
synonym: "malignant neoplasm of kidney except pelvis" EXACT []
synonym: "malignant tumour of kidney" EXACT []
synonym: "renal cancer" EXACT []
synonym: "renal cancers" EXACT []
xref: EFO:0003865
xref: ICD10CM:C64
xref: ICD9CM:189.0
xref: MONDO:0002367
xref: NCI:C120456
xref: NCI:C3150
xref: NCI:C7548
is_a: DOID:3996 ! urinary system cancer
is_a: DOID:9002265 ! Kidney Neoplasms

[Term]
id: DOID:2632
name: papillary serous adenocarcinoma
def: "A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. (DO)" [https://www.ajronline.org/doi/10.2214/ajr.182.6.1821534 "DO"]
synonym: "micropapillary serous carcinoma" EXACT []
synonym: "papillary serous carcinoma" EXACT []
synonym: "serous surface papillary carcinoma" EXACT []
xref: EFO:1000377
xref: NCI:C4182
xref: NCI:C6882
xref: NCI:C8377
is_a: DOID:3112 ! papillary adenocarcinoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:2634
name: cystadenoma
def: "An adenoma that forms a cyst. (DO)" [http://en.wikipedia.org/wiki/Cystadenoma "DO"]
synonym: "cystadenomas" EXACT []
synonym: "cystoma" EXACT []
xref: ICDO:8440/0
xref: MESH:D003537
xref: NCI:C2972
is_a: DOID:657 ! adenoma
is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms

[Term]
id: DOID:2636
name: ovarian Brenner tumor
def: "An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary. (DO)" [https://en.wikipedia.org/wiki/Brenner_tumour "DO"]
synonym: "benign Brenner tumor" EXACT []
synonym: "benign ovarian Brenner tumor" EXACT []
synonym: "benign ovarian Brenner tumour" EXACT []
synonym: "Borderline Ovarian Brenner Tumor" NARROW []
synonym: "Brenner tumor of ovary" EXACT []
synonym: "ovarian Brenner tumour" EXACT []
synonym: "ovary Brenner tumor" EXACT []
xref: EFO:1000112
xref: EFO:1000135
xref: GARD:9397
xref: NCI:C3872
xref: NCI:C39954
is_a: DOID:0060112 ! ovarian benign neoplasm
is_a: DOID:9003150 ! Brenner Tumor

[Term]
id: DOID:2639
name: breast pericanalicular fibroadenoma
def: "A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures. (DO)" [https://en.wikipedia.org/wiki/Fibroadenoma "DO"]
synonym: "Pericanalicular fibroadenoma" EXACT [SNOMEDCT_2005_07_31:41382006]
synonym: "pericanalicular fibroadenoma of breast" EXACT []
xref: NCI:C4272
xref: RDO:9004269
is_a: DOID:1618 ! breast fibroadenoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:264
name: hemangiopericytoma
def: "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. (DO)" [http://en.wikipedia.org/wiki/Hemangiopericytoma "DO"]
synonym: "haemangiopericytic meningioma" EXACT []
synonym: "hemangiopericytomas" EXACT []
xref: GARD:2627
xref: ICDO:9150/3
xref: MESH:D006393
xref: MONDO:0005094
xref: NCI:C3087
is_a: DOID:201 ! connective tissue cancer
is_a: DOID:3850 ! hemangiopericytic tumor

[Term]
id: DOID:2640
name: struma ovarii
alt_id: DOID:5209
def: "An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25640097 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26374222 "DO"]
synonym: "benign struma ovarii" EXACT []
xref: EFO:1001192
xref: ICDO:9090/0
xref: MESH:D013330
xref: NCI:C7468
is_a: DOID:0060112 ! ovarian benign neoplasm

[Term]
id: DOID:2641
name: ovarian germ cell monodermal and highly specialized teratoma
def: "A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12440821 "DO"]
synonym: "ovarian monodermal and highly specialized teratoma" EXACT []
xref: NCI:C8113
is_a: DOID:5207 ! monodermal teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:2643
name: perivascular epithelioid cell tumor
def: "A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002)." [MESH:D054973]
synonym: "CCMMT" EXACT []
synonym: "Clear-Cell Myomelanocytic Tumor" EXACT []
synonym: "Clear Cell Myomelanocytic Tumors" EXACT []
synonym: "Clear-Cell Sugar Tumor" EXACT []
synonym: "Clear Cell Sugar Tumors" EXACT []
synonym: "neoplasm with Perivascular epithelioid cell differentiation" EXACT [NCI2004_11_17:C38150]
synonym: "PEComa" EXACT []
synonym: "PEComas" EXACT []
synonym: "Perivascular Epithelioid Cell Neoplasms" EXACT []
synonym: "Perivascular Epithelioid Cell Tumors" EXACT []
xref: EFO:1000464
xref: MESH:D054973
xref: NCI:C38150
xref: RDO:0007098
is_a: DOID:3316 ! perivascular tumor
is_a: DOID:9008612 ! Connective and Soft Tissue Neoplasms

[Term]
id: DOID:2645
name: benign mesothelioma
def: "A cell type benign neoplasm that has_material_basis_in mesothelium. (DO)" [http://www.mayoclinic.org/diseases-conditions/mesothelioma/basics/definition/con-20026157?_ga=1.105809091.1500897651.1410548817 "DO"]
synonym: "benign tumor of mesothelium" EXACT []
xref: ICD10CM:C45
xref: MONDO:0002373
xref: NCI:C3234
is_a: DOID:3314 ! angiomyolipoma
is_a: DOID:9003566 ! Mesothelioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:2647
name: parachordoma
xref: EFO:1000452
xref: ICDO:9373/0
xref: NCI:C6581
is_a: DOID:3350 ! mesenchymal cell neoplasm
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:2648
name: sebaceous adenoma
synonym: "adenoma of the sebaceous gland" EXACT []
synonym: "skin appendage sebaceous adenoma" EXACT []
xref: NCI:C4174
is_a: DOID:5759 ! sebaceous gland neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:2649
name: chondroblastoma
def: "A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/chondroblastoma "DO", https://www.ncbi.nlm.nih.gov/books/NBK536947/ "DO"]
synonym: "chondroblastoma of bone" EXACT []
synonym: "chondroblastomas" EXACT []
xref: EFO:0000331
xref: GARD:6047
xref: ICDO:9230/1
xref: MESH:D002804
xref: NCI:C2945
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:0060094 ! bone benign neoplasm

[Term]
id: DOID:265
name: spleen angiosarcoma
def: "An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen. (DO)" [https://pubs.rsna.org/doi/full/10.1148/radiol.2351040308 "DO"]
synonym: "angiosarcoma of spleen" EXACT []
synonym: "splenic hemangiosarcoma" EXACT []
xref: NCI:C4564
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:672 ! spleen cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:2653
name: benign fibrous mesothelioma
def: "A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." [MESH:D054363]
synonym: "benign fibrous mesotheliomas" EXACT []
synonym: "Fibrous Mesothelioma" EXACT []
synonym: "Fibrous Mesotheliomas" EXACT []
synonym: "localized benign fibrous mesothelioma" EXACT []
synonym: "Localized Fibrous Mesothelioma" EXACT []
synonym: "Localized Fibrous Mesotheliomas" EXACT []
synonym: "Localized Mesothelioma" EXACT []
synonym: "Localized Mesotheliomas" EXACT []
synonym: "Solitary Fibrous Mesothelioma" EXACT []
synonym: "Solitary Fibrous Mesotheliomas" EXACT []
synonym: "Solitary Fibrous Tumor of the Pleura" EXACT []
synonym: "Solitary Fibrous Tumor, Pleural" EXACT []
synonym: "Submesothelial Fibroma" EXACT []
synonym: "submesothelial fibromas" EXACT []
xref: EFO:1000835
xref: MESH:D054363
xref: NCI:C4457
xref: RDO:0007670
is_a: DOID:2645 ! benign mesothelioma
is_a: DOID:9000315 ! Pleural Neoplasms
is_a: DOID:9002958 ! Solitary Fibrous Tumors

[Term]
id: DOID:2656
name: breast intracanalicular fibroadenoma
def: "A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts. (DO)" [https://en.wikipedia.org/wiki/Fibroadenoma "DO"]
xref: NCI:C4271
xref: RDO:9004270
is_a: DOID:1618 ! breast fibroadenoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:2658
name: dermoid cyst
def: "A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). (DO)" [https://en.wikipedia.org/wiki/Dermoid_cyst "DO"]
synonym: "cystic dermoid choristoma" EXACT []
synonym: "Dermoid" EXACT []
synonym: "dermoid choristoma" EXACT []
synonym: "Dermoid Cysts" EXACT []
synonym: "Dermoids" EXACT []
synonym: "dermoid tumour" EXACT []
synonym: "mature cystic teratoma" EXACT []
synonym: "teratoma, benign" EXACT []
xref: EFO:1000894
xref: ICD10CM:K09.8
xref: ICDO:9084/0
xref: MESH:D003884
xref: NCI:C9011
is_a: DOID:2660 ! cystic teratoma
is_a: DOID:5566 ! mature teratoma
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:2660
name: cystic teratoma
def: "A benign teratoma that is characterized by the presence of cysts or cystic spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23905455 "DO"]
xref: NCI:C9014
is_a: DOID:0080602 ! benign teratoma

[Term]
id: DOID:2661
name: myoepithelioma
def: "A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. (DO)" [http://medical-dictionary.thefreedictionary.com/myoepithelioma "DO"]
synonym: "benign myoepithelioma" EXACT []
synonym: "myoepithelial adenoma" EXACT []
synonym: "myoepithelial neoplasm" EXACT []
synonym: "Myoepithelial Tumor" EXACT []
synonym: "Myoepithelial Tumors" EXACT []
synonym: "Myoepitheliomas" EXACT []
xref: ICDO:8982/0
xref: MESH:D009208
xref: NCI:C40392
is_a: DOID:2664 ! sweat gland benign neoplasm
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:2664
name: sweat gland benign neoplasm
xref: EFO:1001204
is_a: DOID:3165 ! skin benign neoplasm
is_a: DOID:9007274 ! Sweat Gland Neoplasms

[Term]
id: DOID:2668
name: mesenchymoma
def: "A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866)" [MESH:D008637]
synonym: "Mesenchymomas" EXACT []
xref: EFO:1001042
xref: ICDO:8990/3
xref: MESH:D008637
xref: NCI:C3233
xref: RDO:0000961
is_a: DOID:201 ! connective tissue cancer
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:2669
name: Pacinian tumor
synonym: "Pacinian neurofibroma" EXACT []
xref: ICDO:9507/0
xref: NCI:C4328
is_a: DOID:962 ! neurofibroma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:2670
name: transitional papilloma
synonym: "transitional cell papilloma" EXACT []
synonym: "transitional cell papilloma, benign" EXACT [SNOMEDCT_2005_07_31:44342003]
xref: EFO:0006497
xref: NCI:C4115
xref: RDO:9003774
is_a: DOID:2615 ! papilloma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2671
name: transitional cell carcinoma
alt_id: OMIA:001512
def: "A carcinoma that derives_from transitional epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Transitional_cell_carcinoma "DO"]
synonym: "invasive transitional cell carcinoma" NARROW []
synonym: "TCC" EXACT []
synonym: "transitional carcinoma" EXACT []
synonym: "transitional cell carcinoma of the bladder" NARROW []
synonym: "transitional cell carcinomas" EXACT []
synonym: "transitional cell neoplasm" RELATED []
synonym: "transitional cell tumor" EXACT []
synonym: "urothelial carcinoma" EXACT []
synonym: "urothelial cell carcinoma" EXACT []
xref: EFO:0008528
xref: EFO:1000601
xref: GARD:7794
xref: ICDO:8120/3
xref: MESH:D002295
xref: NCI:C128126
xref: NCI:C2930
xref: NCI:C6783
is_a: DOID:305 ! carcinoma
is_a: DOID:9004643 ! Urologic Neoplasms

[Term]
id: DOID:2673
name: adult cystic nephroma
def: "A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium. (DO)" [http://www.pathologyoutlines.com/topic/kidneytumorcysticnephroma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/27831959 "DO"]
synonym: "benign cystic nephroma" EXACT []
synonym: "cystic nephroma" EXACT []
synonym: "multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour" EXACT []
xref: EFO:1000213
xref: MONDO:0002385
xref: NCI:C7504
is_a: DOID:0080615 ! nephroma
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:2679
name: dysembryoplastic neuroepithelial tumor
def: "A rare brain tumor that occurs in children and is characterized by long-standing, intractable partial complex seizures." []
synonym: "DNET" EXACT []
synonym: "DNT" EXACT []
synonym: "dysembryoplastic neuroepithelial neoplasm" EXACT []
synonym: "dysembryoplastic neuroepithelial tumour" EXACT []
xref: EFO:0005551
xref: GARD:10640
xref: ICDO:9413/0
xref: NCI:C9505
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:3070 ! high grade glioma
created_by: rgd
creation_date: 2016-12-02T00:00:00Z

[Term]
id: DOID:268
name: liver angiosarcoma
def: "An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30093472 "DO"]
synonym: "angiosarcoma of liver" EXACT []
synonym: "hemangiosarcoma of the liver" EXACT []
xref: GARD:5813
xref: ICD10CM:C22.3
xref: NCI:C4438
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:270 ! liver sarcoma
is_a: DOID:272 ! hepatic vascular disease
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:2682
name: intracystic papillary adenoma
synonym: "intracystic papilloma" EXACT []
xref: ICDO:8504/0
is_a: DOID:3172 ! papillary adenoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2683
name: adenofibroma
def: "A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [http://www.ncbi.nlm.nih.gov/mesh/68000232 "DO"]
synonym: "adenofibromas" EXACT []
synonym: "fibroadenosis" EXACT []
xref: EFO:1000070
xref: ICDO:9013/0
xref: MESH:D000232
is_a: DOID:657 ! adenoma
is_a: DOID:9007017 ! Fibroepithelial Neoplasms

[Term]
id: DOID:2685
name: ossifying fibromyxoid tumor
def: "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients. (NCI)" []
synonym: "ossifying fibromyxoid neoplasm" EXACT []
synonym: "ossifying fibromyxoid tumour" EXACT []
synonym: "ossifying fibromyxoma" EXACT []
xref: EFO:1000408
xref: ICDO:8842/0
xref: NCI:C6582
is_a: DOID:3350 ! mesenchymal cell neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:2687
name: skin sarcoma
def: "A sarcoma that is located_in the skin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21146736 "DO"]
synonym: "cutaneous sarcoma" EXACT []
xref: EFO:1000531
xref: NCI:C5585
is_a: DOID:1115 ! sarcoma
is_a: DOID:4159 ! skin cancer
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:2689
name: lymphangiosarcoma
def: "A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels. (DO)" [https://en.wikipedia.org/wiki/Lymphangiosarcoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/9796078 "DO"]
synonym: "lymphangiosarcomas" EXACT []
synonym: "malignant lymphangioendothelioma" EXACT []
synonym: "malignant lymphangioendotheliomas" EXACT []
synonym: "skin lymphangiosarcoma" EXACT []
synonym: "Stewart-Treves syndrome" EXACT []
xref: EFO:1000339
xref: ICDO:9170/3
xref: MESH:D008204
xref: NCI:C3205
xref: NCI:C4490
is_a: DOID:0060073 ! lymphatic system cancer
is_a: DOID:1115 ! sarcoma
is_a: DOID:9003008 ! Lymphatic Vessel Tumors

[Term]
id: DOID:2691
name: myoma
def: "A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29789793 "DO"]
synonym: "benign neoplasm of the muscle" EXACT []
synonym: "myomas" EXACT []
xref: ICD10CM:D21
xref: ICDO:8895/0
xref: MESH:D009214
xref: NCI:C4882
is_a: DOID:0060095 ! uterine benign neoplasm
is_a: DOID:461 ! muscle benign neoplasm

[Term]
id: DOID:2696
name: Leydig cell tumor
def: "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle. (DO)" [https://en.wikipedia.org/wiki/Leydig_cell_tumour "DO"]
synonym: "interstitial cell tumor" EXACT []
synonym: "interstitial cell tumors" EXACT []
synonym: "Leydig cell neoplasm" EXACT []
synonym: "Ovarian Leydig Cell Tumor" NARROW []
xref: EFO:1000321
xref: EFO:1000423
xref: MESH:D007984
xref: NCI:C134947
xref: NCI:C3188
xref: NCI:C4213
is_a: DOID:192 ! sex cord-gonadal stromal tumor

[Term]
id: DOID:2697
name: renal adenoma
synonym: "renal cell adenoma" EXACT [SNOMEDCT_2005_07_31:41627005]
xref: NCI:C8383
is_a: DOID:3116 ! kidney benign neoplasm
is_a: DOID:657 ! adenoma

[Term]
id: DOID:2698
name: nephrogenic adenofibroma
synonym: "metanephric adenofibroma" EXACT []
xref: NCI:C39812
xref: RDO:9005135
is_a: DOID:3116 ! kidney benign neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:270
name: liver sarcoma
def: "A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. (DO)" [http://www.cancersupportivecare.com/liver.html "DO"]
synonym: "hepatic sarcoma" EXACT []
xref: NCI:C4437
is_a: DOID:1115 ! sarcoma
is_a: DOID:3571 ! liver cancer
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:2700
name: mucinous adenofibroma
def: "An adenofibroma that is characterized by the presence of mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977110/ "DO"]
xref: ICDO:9015/0
xref: NCI:C8978
xref: RDO:9005004
is_a: DOID:2683 ! adenofibroma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:2701
name: nodular tenosynovitis
synonym: "benign synovioma" EXACT []
synonym: "benign tumor of synovium" EXACT []
synonym: "localized giant cell tumor of tenosynovium" EXACT []
xref: NCI:C3829
xref: NCI:C6532
is_a: DOID:0060123 ! connective tissue benign neoplasm

[Term]
id: DOID:2702
name: pigmented villonodular synovitis
def: "Diffuse outgrowth arising from the SYNOVIAL MEMBRANE; SYNOVIAL BURSA; or TENDON sheath around the joint cavity, with extension to surrounding soft tissue. It is characterized by pigmented HEMOSIDERIN-containing MACROPHAGES; FOAM CELLS; and multinucleated GIANT CELLS. It usually occurs in the hands and feet, and around large joints, such as in the ankle and knee joints." [MESH:D013586]
synonym: "Diffuse Giant cell tumor of Tenosynovium" EXACT [NCI2004_11_17:C3401]
synonym: "Diffuse Tenosynovial Giant Cell Tumor" EXACT []
synonym: "Pigmented Villonodular Synovitides" EXACT []
synonym: "villous tenosynovitis" EXACT [SNOMEDCT_2005_07_31:71508003]
xref: EFO:1001106
xref: GARD:7396
xref: ICD10CM:M12.2
xref: MESH:D013586
xref: NCI:C3401
is_a: DOID:314 ! tenosynovial giant cell tumor
is_a: DOID:9898 ! villonodular synovitis

[Term]
id: DOID:2703
name: synovitis
def: "A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. (DO)" [https://en.wikipedia.org/wiki/Synovitis "DO"]
synonym: "synovial hypertrophies" EXACT []
synonym: "Synovial Hypertrophy" EXACT []
synonym: "Synovial Thickening" EXACT []
synonym: "synovitides" EXACT []
xref: EFO:0008997
xref: GARD:7722
xref: MESH:D013585
xref: MONDO:0002400
xref: NCI:C50766
is_a: DOID:381 ! arthropathy
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:2704
name: malignant giant cell tumor of the tendon sheath
synonym: "Giant cell tumour of tendon sheath, malignant" EXACT [SNOMEDCT_2005_07_31:128778009]
synonym: "malignant Giant cell neoplasm of the Tendon Sheath" EXACT [NCI2004_11_17:C6535]
xref: NCI:C6535
is_a: DOID:2706 ! synovium cancer

[Term]
id: DOID:2705
name: malignant giant cell tumor
synonym: "malignant giant cell neoplasm" EXACT []
synonym: "malignant tumor, giant cell type" EXACT []
xref: NCI:C4090
is_a: DOID:201 ! connective tissue cancer
is_a: DOID:9003853 ! Giant Cell Tumors

[Term]
id: DOID:2706
name: synovium cancer
synonym: "malignant tumor of synovium" EXACT []
xref: NCI:C6531
is_a: DOID:201 ! connective tissue cancer

[Term]
id: DOID:2708
name: mushroom workers' lung
def: "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470139/pdf/thorax00134-0122.pdf "DO"]
xref: EFO:0007385
xref: ICD10CM:J67.5
xref: ICD9CM:495.5
xref: RDO:9004047
is_a: DOID:841 ! extrinsic allergic alveolitis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:271
name: hemangioma of liver
synonym: "angioma of liver" EXACT []
synonym: "hepatic angioma" EXACT []
synonym: "hepatic hemangioma" EXACT []
synonym: "liver angioma" EXACT []
xref: MONDO:0002404
xref: NCI:C3869
is_a: DOID:254 ! hemangioma of intra-abdominal structure
is_a: DOID:272 ! hepatic vascular disease
is_a: DOID:916 ! liver benign neoplasm
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:2710
name: sick building syndrome
def: "An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sick%20building%20syndrome "DO"]
synonym: "sick house syndrome" EXACT []
synonym: "sick house syndromes" EXACT []
xref: EFO:0007484
xref: MESH:D018877
is_a: DOID:225 ! syndrome
is_a: DOID:841 ! extrinsic allergic alveolitis
is_a: DOID:9003858 ! Environmental Illness

[Term]
id: DOID:2712
name: phimosis
def: "A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening." [MESH:D010688]
synonym: "Phimoses" EXACT []
synonym: "tight foreskin" EXACT []
synonym: "tight frenulum" EXACT []
xref: EFO:1001104
xref: ICD10CM:N47.1
xref: MESH:D010688
xref: NCI:C26852
is_a: DOID:1529 ! penile disease

[Term]
id: DOID:2717
name: Bloom syndrome
alt_id: MIM:210900
def: "A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. (DO)" [http://ghr.nlm.nih.gov/condition/bloom-syndrome "DO", https://en.wikipedia.org/wiki/Bloom_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/10823897 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9482582 "DO"]
synonym: "BLM" EXACT []
synonym: "Bloom's syndrome" EXACT []
synonym: "Bloom-Torre-Machacek syndrome" EXACT []
synonym: "BLS" EXACT []
synonym: "BS" EXACT []
synonym: "congenital telangiectatic erythema" EXACT []
synonym: "congenital telangiectatic erythema syndrome" EXACT []
synonym: "DNA ligase I deficiency" RELATED []
synonym: "MGRISCE1" EXACT []
synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 1" EXACT []
xref: MESH:D001816
xref: NCI:C2903
xref: ORDO:125
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders
is_a: DOID:9009080 ! Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange

[Term]
id: DOID:2718
name: hemopneumothorax
def: "A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity. (DO)" [https://en.wikipedia.org/wiki/Hemopneumothorax "DO"]
synonym: "haemopneumothorax" EXACT []
xref: EFO:1000963
xref: ICD10CM:J94.2
xref: MESH:D006468
is_a: DOID:1673 ! pneumothorax
is_a: DOID:9000415 ! Hemothorax

[Term]
id: DOID:272
name: hepatic vascular disease
def: "A vascular disease that is located_in the liver. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21055687 "DO"]
synonym: "vascular disorder of liver" EXACT []
xref: NCI:C35442
xref: RDO:9002801
is_a: DOID:178 ! vascular disease
is_a: DOID:409 ! liver disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:2722
name: acrodermatitis
alt_id: OMIA:002146
def: "A dermatitis that selectively affects the hands and feet. (DO)" [http://en.wikipedia.org/wiki/Acrodermatitis "DO"]
synonym: "acrodermatitides" EXACT []
synonym: "Acrodermatitis Papulosa Infantum" EXACT []
synonym: "Acropapulo Vesicular Syndrome" EXACT []
synonym: "acropapulo-vesicular syndromes" EXACT []
synonym: "childhood papular acrodermatitides" EXACT []
synonym: "Childhood Papular Acrodermatitis" EXACT []
synonym: "Erythemato Vesiculo Papulous Eruptive Syndrome" EXACT []
synonym: "Erythemato-Vesiculo-Papulous Eruptive Syndromes" EXACT []
synonym: "Gianotti Crosti Syndrome" EXACT []
synonym: "Infantile Papular Acrodermatitides" EXACT []
synonym: "Infantile Papular Acrodermatitis" EXACT []
synonym: "papular acrodermatitis of childhood" EXACT []
synonym: "papulovesicular acrolocated syndrome" EXACT []
synonym: "papulovesicular acrolocated syndromes" EXACT []
xref: EFO:1000664
xref: GARD:5722
xref: MESH:D000169
xref: NCI:C84532
is_a: DOID:2723 ! dermatitis
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:2723
name: dermatitis
def: "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. (DO)" [http://en.wikipedia.org/wiki/Dermatitis "DO", http://www.nlm.nih.gov/medlineplus/eczema.html "DO"]
synonym: "dermatitides" EXACT []
synonym: "inflammatory skin disease" EXACT []
synonym: "skin inflammation" EXACT []
xref: EFO:1000636
xref: ICD10CM:L30.9
xref: MESH:D003872
xref: NCI:C2983
is_a: DOID:37 ! skin disease
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:2725
name: capillary hemangioma
def: "A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. (DO)" [https://eyewiki.aao.org/Capillary_Hemangioma "DO", MESH:D018324]
comment: is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:255 ! hemangioma is_a: DOID:930 ! orbital disease
synonym: "Capillary haemangioma" EXACT []
synonym: "capillary hemangiomas" EXACT []
synonym: "cellular hemangioma of infancy" EXACT []
synonym: "congenital vascular hamartoma" EXACT []
synonym: "congenital vascular naevus" EXACT []
synonym: "infantile hemangioma" EXACT []
synonym: "juvenile hemangioma" EXACT []
synonym: "strawberry haemangioma" EXACT []
synonym: "strawberry nevus" EXACT []
synonym: "strawberry nevus of skin" EXACT []
xref: ICD10CM:Q82.5
xref: ICDO:9131/0
xref: MESH:D018324
xref: NCI:C6645
xref: NCI:C7457
is_a: DOID:0060094 ! bone benign neoplasm
is_a: DOID:1271 ! capillary disease
is_a: DOID:255 ! hemangioma
is_a: DOID:471 ! skin hemangioma
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:2729
name: dyskeratosis congenita
alt_id: DOID:0070025
def: "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. (DO)" [http://en.wikipedia.org/wiki/Dyskeratosis_congenita "DO", http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita "DO"]
xref: GARD:10905
xref: MESH:D019871
xref: MIM:PS127550
xref: NCI:C111802
xref: ORDO:1775
is_a: DOID:0080578 ! digenic disease
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:2730
name: epidermolysis bullosa
def: "A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin. (DO)" [https://rarediseases.org/rare-diseases/epidermolysis-bullosa/ "DO"]
synonym: "acantholysis bullosa" EXACT []
xref: EFO:1000690
xref: GARD:6359
xref: ICD10CM:Q81
xref: ICD10CM:Q81.9
xref: MESH:D004820
xref: NCI:C67383
is_a: DOID:2731 ! vesiculobullous skin disease
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:2731
name: vesiculobullous skin disease
def: "A bullous skin disease that is characterized by fluid filled blisters. (DO)" [https://www.aafp.org/afp/2017/0601/p717.html "DO"]
synonym: "Vesicular Skin Disease" EXACT []
synonym: "Vesicular Skin Diseases" EXACT []
synonym: "Vesiculobullous Dermatoses" EXACT []
synonym: "vesiculobullous skin diseases" EXACT []
xref: EFO:1000774
xref: MESH:D012872
is_a: DOID:8502 ! bullous skin disease

[Term]
id: DOID:2732
name: Rothmund-Thomson syndrome
def: "A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20113479/ "DO"]
synonym: "congenital poikiloderma" EXACT []
synonym: "poikiloderma congenitale" EXACT []
synonym: "poikiloderma congenitale of Rothmund-Thomson" EXACT []
synonym: "poikiloderma congenitales" EXACT []
synonym: "poikiloderma of Rothmund Thomson" EXACT []
synonym: "Rothmund-Thomson poikiloderma" EXACT []
synonym: "RTS" EXACT []
xref: GARD:4392
xref: MESH:D011038
xref: MIM:PS268400
xref: NCI:C3335
is_a: DOID:225 ! syndrome
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders

[Term]
id: DOID:2733
name: skin atrophy
synonym: "atrophic condition of skin" EXACT []
synonym: "atrophoderma" EXACT []
xref: EFO:1000766
xref: ICD10CM:L90
xref: ICD10CM:L90.9
xref: NCI:C35163
is_a: DOID:37 ! skin disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2734
name: keratosis follicularis
def: "An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES." [MESH:D007644]
synonym: "acantholytic dyskeratotic epidermal nevi" EXACT []
synonym: "Acantholytic Dyskeratotic Epidermal Nevus" EXACT []
synonym: "DAR" EXACT []
synonym: "Darier's Disease" EXACT []
synonym: "Darier disease" EXACT []
synonym: "DARIER DISEASE, ACRAL HEMORRHAGIC TYPE" NARROW []
synonym: "DARIER DISEASE, SEGMENTAL" NARROW []
synonym: "Dariers Disease" EXACT []
synonym: "Darier-White disease" EXACT []
synonym: "DD" EXACT []
xref: EFO:0004124
xref: ICD10CM:E50.8
xref: MESH:D007644
xref: MIM:124200
xref: MONDO:0007417
xref: NCI:C84665
is_a: DOID:161 ! keratosis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:2736
name: Hajdu-Cheney syndrome
alt_id: MESH:C537586
alt_id: MIM:102500
def: "A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21378985 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21378989 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9714016 "DO"]
synonym: "acroosteolysis with osteoporosis and changes in skull and mandible" EXACT []
synonym: "arthrodentoosteodysplasia" EXACT []
synonym: "arthrodentoosteodysplasias" EXACT []
synonym: "Cheney syndrome" EXACT []
synonym: "HJCYS" EXACT []
synonym: "multicentric osteolyses" EXACT []
synonym: "multicentric osteolysis" EXACT []
synonym: "NOTCH2-RELATED CONDITION" BROAD []
synonym: "serpentine fibula-polycystic kidney syndrome" EXACT []
synonym: "serpentine fibula syndrome" EXACT []
synonym: "SFPKS" EXACT []
xref: GARD:508
xref: MESH:D031845
xref: NCI:C35545
xref: NCI:C84745
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001402 ! Acro-Osteolysis
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:2738
name: pseudoxanthoma elasticum
alt_id: MIM:177850
alt_id: MIM:264800
def: "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. (DO)" [http://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum "DO", http://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract "DO"]
synonym: "Groenblad-Strandberg syndrome" EXACT []
synonym: "Gronblad Strandberg Syndrome" EXACT []
synonym: "Incomplete Pseudoxanthoma Elasticum" EXACT []
synonym: "Incomplete Pseudoxanthoma Elasticums" EXACT []
synonym: "Pseudoxanthoma Elasticum, Autosomal Dominant" EXACT []
synonym: "Pseudoxanthoma Elasticum, Forme Fruste" EXACT []
synonym: "PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS" NARROW []
synonym: "pseudoxanthoma elasticum, modifier of severity of" RELATED []
synonym: "PXE" EXACT []
synonym: "PXE, MODIFIER OF SEVERITY OF" RELATED []
synonym: "XYLT2-RELATED CONDITION" BROAD []
xref: GARD:9643
xref: MESH:D011561
xref: NCI:C85036
xref: ORDO:758
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:484 ! vascular hemostatic disease
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:2739
name: Gilbert syndrome
alt_id: MIM:143500
def: "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. (DO)" [http://en.wikipedia.org/wiki/Gilbert%27s_syndrome "DO"]
synonym: "Arias Type Hyperbilirubinemia" EXACT []
synonym: "Arias type hyperbilirubinemias" EXACT []
synonym: "constitutional hyperbilirubinemia" EXACT []
synonym: "constitutional liver dysfunction" EXACT []
synonym: "Familial Nonhemolytic Jaundice" EXACT []
synonym: "Gilbert's Disease" EXACT []
synonym: "Gilbert's Syndrome" EXACT []
synonym: "Gilbert disease" EXACT []
synonym: "Gilbert-Lereboullet Syndrome" EXACT []
synonym: "Gilbert-Meulengracht syndrome" EXACT []
synonym: "Gilberts Disease" EXACT []
synonym: "Gilberts Syndrome" EXACT []
synonym: "Gilbert Syndrome, Susceptibility To" RELATED []
synonym: "HBLRG" EXACT []
synonym: "hereditary nonhemolytic jaundice" EXACT []
synonym: "Hyperbilirubinemia 1" EXACT []
synonym: "HYPERBILIRUBINEMIA, GILBERT TYPE" EXACT []
synonym: "Hyperbilirubinemia I" EXACT []
synonym: "Meulengracht syndrome" EXACT []
synonym: "unconjugated benign bilirubinemia" EXACT []
xref: EFO:0005556
xref: GARD:6507
xref: ICD10CM:E80.4
xref: MESH:D005878
xref: NCI:C84729
is_a: DOID:2741 ! bilirubin metabolic disorder
is_a: DOID:9005094 ! Hereditary Hyperbilirubinemia

[Term]
id: DOID:2741
name: bilirubin metabolic disorder
def: "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. (DO)" [http://en.wikipedia.org/wiki/Hereditary_hyperbilirubinemia "DO"]
synonym: "bilirubinemia" EXACT []
synonym: "bilirubinemias" EXACT []
synonym: "hyperbilirubinaemia" EXACT []
synonym: "hyperbilirubinemia" EXACT []
synonym: "hyperbilirubinemias" EXACT []
xref: MESH:D006932
xref: MIM:PS237450
xref: NCI:C84761
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:2742
name: auditory system disease
def: "A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. (DO)" [https://books.google.com/books?id=r3I0BwAAQBAJ&newbks=1&newbks_redir=0&lpg=PP1&dq=disorders%20of%20auditory%20system&pg=PP1#v=onepage&q=disorders%20of%20auditory%20system&f=false "DO"]
synonym: "ear and mastoid disease" EXACT []
synonym: "ear disease" EXACT []
synonym: "ear diseases" EXACT []
synonym: "otological disease" EXACT []
synonym: "otological diseases" EXACT []
synonym: "otologic disease" EXACT []
synonym: "otologic diseases" EXACT []
xref: EFO:1001455
xref: ICD10CM:H93.9
xref: ICD9CM:388.9
xref: MESH:D004427
xref: NCI:C26757
is_a: DOID:0050155 ! sensory system disease
is_a: DOID:9007241 ! Otorhinolaryngologic Diseases

[Term]
id: DOID:2743
name: pyeloureteritis cystica
xref: ICD10CM:N28.85
xref: ICD9CM:590.3
xref: RDO:9004014
is_a: DOID:1426 ! ureteral disease
is_a: DOID:2744 ! pyelitis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:2744
name: pyelitis
def: "Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed." [MESH:D011702]
xref: EFO:1001140
xref: MESH:D011702
xref: NCI:C34964
is_a: DOID:10952 ! nephritis
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:2745
name: narcissistic personality disorder
def: "A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity. (DO)" [http://en.wikipedia.org/wiki/Narcissistic_personality_disorder "DO"]
xref: ICD10CM:F60.81
xref: ICD9CM:301.81
xref: NCI:C92635
is_a: DOID:1510 ! personality disorder
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:2746
name: glycogen storage disease V
alt_id: MIM:232600
def: "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. (DO)" [https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/ "DO"]
synonym: "glycogenosis 5" EXACT []
synonym: "Glycogen storage disease 5" EXACT []
synonym: "Glycogen Storage Disease Type 5" EXACT []
synonym: "glycogen storage disease type V" EXACT []
synonym: "GSD5" EXACT []
synonym: "GSD V" EXACT []
synonym: "McArdle's Disease" EXACT []
synonym: "McArdle Disease" EXACT []
synonym: "MCARDLE DISEASE, MILD" NARROW []
synonym: "McArdles Disease" EXACT []
synonym: "Mcardle Syndrome" EXACT []
synonym: "McArdle syndromes" EXACT []
synonym: "McArdle Type Glycogen Storage Disease" EXACT []
synonym: "Muscle Glycogen Phosphorylase Deficiency" EXACT []
synonym: "muscle phosphorylase deficiencies" EXACT []
synonym: "Muscle Phosphorylase Deficiency" EXACT []
synonym: "Myophosphorylase deficiencies" EXACT []
synonym: "myophosphorylase deficiency" EXACT []
synonym: "PYGM deficiencies" EXACT []
synonym: "PYGM deficiency" EXACT []
xref: GARD:6528
xref: ICD10CM:E74.04
xref: MESH:D006012
xref: NCI:C84738
xref: ORDO:368
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:2747
name: glycogen storage disease
def: "A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. (DO)" [http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism "DO", http://en.wikipedia.org/wiki/Glycogen_storage_disease "DO", http://www.slideshare.net/anjupaed/glcogen-storage-disorders "DO"]
synonym: "glycogenoses" EXACT []
synonym: "glycogenosis" EXACT []
synonym: "glycogen storage diseases" EXACT []
xref: ICD10CM:E74.0
xref: ICD9CM:271.0
xref: MESH:D006008
xref: MIM:PS615895
xref: NCI:C61272
is_a: DOID:0050728 ! glycogen metabolism disorder

[Term]
id: DOID:2748
name: glycogen storage disease III
def: "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17047887/ "DO"]
synonym: "AGL deficiency" EXACT []
synonym: "amylo-1,6-glucosidase deficiencies" EXACT []
synonym: "Amylo 1,6 Glucosidase Deficiency" EXACT []
synonym: "Cori's Disease" EXACT []
synonym: "Cori Disease" EXACT []
synonym: "Coris Disease" EXACT []
synonym: "Debrancher deficiencies" EXACT []
synonym: "Debrancher Deficiency" EXACT []
synonym: "deficiency of debranching enzyme" EXACT []
synonym: "deficiency of dextrin" EXACT []
synonym: "Forbes Disease" EXACT []
synonym: "glycogen debrancher deficiencies" EXACT []
synonym: "Glycogen Debrancher Deficiency" EXACT []
synonym: "Glycogen Debranching Enzyme Deficiency" EXACT []
synonym: "Glycogenosis 3" EXACT []
synonym: "glycogen storage disease 3" EXACT []
synonym: "glycogen storage disease type 3" EXACT []
synonym: "glycogen storage disease type III" EXACT []
synonym: "GSD3" EXACT []
synonym: "limit dextrinoses" EXACT []
synonym: "limit dextrinosis" EXACT []
xref: GARD:9442
xref: ICD10CM:E74.03
xref: MESH:D006010
xref: MIM:232400
xref: MONDO:0009291
xref: NCI:C84736
xref: ORDO:366
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:2749
name: glycogen storage disease Ia
alt_id: DOID:9007637
alt_id: MIM:232200
alt_id: OMIA:000418
def: "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21. (DO)" [http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I "DO", https://pubmed.ncbi.nlm.nih.gov/8211187/ "DO"]
synonym: "GLUCOSE-6-PHOSPHATASE DEFICIENCY" EXACT []
synonym: "glycogen storage disease type 1A" EXACT []
synonym: "glycogen storage disease type IA" EXACT []
synonym: "GSD1A" EXACT []
synonym: "GSD IA" EXACT []
synonym: "hepatorenal form of glycogen storage disease" EXACT []
synonym: "hepatorenal glycogenosis" EXACT []
xref: GARD:7864
xref: MESH:C538655
xref: NCI:C162398
xref: ORDO:79258
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081329 ! glycogen storage disease I

[Term]
id: DOID:275
name: gastric hemangioma
synonym: "angioma of stomach" EXACT []
synonym: "gastric angioma" EXACT []
synonym: "hemangioma of stomach" EXACT []
xref: MONDO:0002414
xref: NCI:C5481
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:254 ! hemangioma of intra-abdominal structure
is_a: DOID:76 ! stomach disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:2750
name: glycogen storage disease IV
alt_id: MIM:232500
def: "A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17915577/ "DO"]
synonym: "amylopectinoses" EXACT []
synonym: "amylopectinosis" EXACT []
synonym: "Andersen's Disease" EXACT []
synonym: "Andersen Disease" EXACT []
synonym: "Andersens Disease" EXACT []
synonym: "Brancher deficiencies" EXACT []
synonym: "Brancher Deficiency" EXACT []
synonym: "brancher deficiency glycogenosis" EXACT []
synonym: "branching-transferase deficiency glycogenosis" EXACT []
synonym: "deficiency of 1,4-alpha-glucan branching enzyme" EXACT []
synonym: "GBE1 deficiencies" EXACT []
synonym: "GBE1 deficiency" EXACT []
synonym: "GBE1-RELATED DISORDER" BROAD []
synonym: "GBE1-RELATED DISORDERS" BROAD []
synonym: "Glycogen Branching Enzyme Deficiency" EXACT []
synonym: "glycogenoses type IV" EXACT []
synonym: "glycogenosis 4" EXACT []
synonym: "glycogenosis IV" EXACT []
synonym: "glycogenosis type IV" EXACT []
synonym: "Glycogen storage disease 4" EXACT []
synonym: "glycogen storage disease due to glycogen branching enzyme deficiency" EXACT []
synonym: "glycogen storage disease type 4" EXACT []
synonym: "glycogen storage disease type IV" EXACT []
synonym: "GSD4" EXACT []
synonym: "GSD due to glycogen branching enzyme deficiency" EXACT []
synonym: "GSD IV" EXACT []
xref: GARD:2520
xref: MESH:D006011
xref: NCI:C84737
xref: ORDO:367
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:2751
name: glycogen storage disease VIII
def: "A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2558039/ "DO"]
synonym: "glycogenosis 8" EXACT []
synonym: "glycogenosis type VIII" EXACT []
synonym: "Glycogen storage disease 8" EXACT []
synonym: "glycogen storage disease type VIII" EXACT []
synonym: "hepatic glycogen phosphorylase kinase deficiency" EXACT []
synonym: "hepatic phosphorylase kinase deficiency" EXACT []
synonym: "phosphorylase kinase deficiency of liver" EXACT []
xref: EFO:1000952
xref: MESH:D006015
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:2752
name: glycogen storage disease II
def: "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. (DO)" [http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II "DO"]
synonym: "acid alpha-glucosidase deficiencies" EXACT []
synonym: "acid alpha-glucosidase deficiency" EXACT []
synonym: "acid maltase deficiencies" EXACT []
synonym: "acid maltase deficiency" EXACT []
synonym: "Acid Maltase Deficiency Disease" EXACT []
synonym: "Adult Glycogen Storage Disease Type II" EXACT []
synonym: "alpha-1,4-glucosidase deficiencies" EXACT []
synonym: "Alpha 1,4 Glucosidase Deficiency" EXACT []
synonym: "alpha-glucosidase deficiencies" EXACT []
synonym: "Alpha-Glucosidase Deficiency" EXACT []
synonym: "AMD" EXACT []
synonym: "Deficiency of Alpha Glucosidase" EXACT []
synonym: "deficiency of glucoamylase" EXACT []
synonym: "deficiency of maltase" EXACT []
synonym: "GAA deficiencies" EXACT []
synonym: "GAA Deficiency" EXACT []
synonym: "generalized glycogenoses" EXACT []
synonym: "Generalized Glycogenosis" EXACT []
synonym: "Glycogenosis 2" EXACT []
synonym: "glycogenosis type 2" EXACT []
synonym: "Glycogenosis Type II" EXACT []
synonym: "Glycogen storage disease 2" EXACT []
synonym: "glycogen storage disease II, adult form" NARROW []
synonym: "glycogen storage disease II, infantile form" NARROW []
synonym: "glycogen storage disease type 2" EXACT []
synonym: "glycogen storage disease type II" EXACT []
synonym: "GSD2" EXACT []
synonym: "GSD II" EXACT []
synonym: "infantile glycogen storage disease type II" NARROW []
synonym: "juvenile glycogen storage disease type II" NARROW []
synonym: "lysosomal alpha-1,4-glucosidase deficiency" EXACT []
synonym: "lysosomal alpha-1,4-glucosidase deficiency disease" EXACT []
synonym: "Pompe's disease" EXACT []
synonym: "Pompe disease" EXACT []
synonym: "Pompes disease" EXACT []
xref: GARD:5714
xref: ICD10CM:E74.02
xref: MESH:D006009
xref: MIM:232300
xref: MONDO:0009290
xref: NCI:C84734
xref: OMIA:000419
xref: ORDO:365
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2747 ! glycogen storage disease
is_a: DOID:9008012 ! Lysosomal Storage Diseases, Nervous System

[Term]
id: DOID:2754
name: glycogen storage disease VI
alt_id: MIM:232700
def: "A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. (DO)" [http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI "DO", http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi "DO", https://pubmed.ncbi.nlm.nih.gov/25266922/ "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract "DO"]
synonym: "glycogenosis 6" EXACT []
synonym: "Glycogenosis Type VI" EXACT []
synonym: "glycogenosis VI" EXACT []
synonym: "Glycogen storage disease 6" EXACT []
synonym: "glycogen storage disease type VI" EXACT []
synonym: "GSD6" EXACT []
synonym: "GSD VI" EXACT []
synonym: "hepatic glycogen phosphorylase deficiency" EXACT []
synonym: "hepatophosphorylase deficiency glycogenosis" EXACT []
synonym: "Her Disease" EXACT []
synonym: "Hers Disease" EXACT []
synonym: "liver phosphorylase deficiency syndrome" EXACT []
synonym: "PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER" EXACT []
xref: MESH:D006013
xref: NCI:C126875
xref: ORDO:369
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2747 ! glycogen storage disease
is_a: DOID:409 ! liver disease

[Term]
id: DOID:2755
name: Mycobacterium avium complex disease
def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. (DO)" [https://clinicalinfo.hiv.gov/en/guidelines/adult-and-adolescent-opportunistic-infection/mycobacterium-avium-complex-disease "DO", https://pubmed.ncbi.nlm.nih.gov/35400550/ "DO"]
synonym: "Infection due to Mycobacterium intracellulare" EXACT []
synonym: "MAC disease" EXACT []
synonym: "Mycobacterium avium complex" EXACT []
synonym: "Mycobacterium avium infection" EXACT []
synonym: "Mycobacterium Avium-Intracellulare Infection" EXACT []
synonym: "Mycobacterium avium-intracellulare Infections" EXACT []
synonym: "Mycobacterium intracellulare Infection" EXACT []
synonym: "Mycobacterium intracellulare Infections" EXACT []
xref: EFO:0007386
xref: GARD:7123
xref: MESH:D015270
xref: NCI:C36197
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections

[Term]
id: DOID:2762
name: bone carcinoma
def: "A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
xref: NCI:C36082
is_a: DOID:184 ! bone cancer
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:2763
name: ethmoid sinus squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the ethmoid sinus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726268/ "DO"]
synonym: "epidermoid carcinoma of the ethmoidal sinus" EXACT []
xref: NCI:C6065
is_a: DOID:1363 ! ethmoid sinus cancer
is_a: DOID:1749 ! squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:2764
name: ethmoid sinus adenoid cystic carcinoma
synonym: "adenoid cystic carcinoma of ethmoid sinus" EXACT []
synonym: "adenoid cystic carcinoma of the ethmoid sinus" EXACT []
xref: EFO:1000246
xref: NCI:C6238
is_a: DOID:1363 ! ethmoid sinus cancer

[Term]
id: DOID:2766
name: ethmoid sinus adenocarcinoma
def: "An ethmoid sinus cancer that derives from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of ethmoid sinus" EXACT []
synonym: "adenocarcinoma of the ethmoid sinus" EXACT [NCI2004_11_17:C6237]
xref: NCI:C6237
is_a: DOID:1363 ! ethmoid sinus cancer
is_a: DOID:299 ! adenocarcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:2768
name: transient tic disorder
def: "A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months. (DO)" [http://en.wikipedia.org/wiki/Tic_disorder "DO"]
xref: ICD10CM:F95.0
xref: ICD9CM:307.21
xref: NCI:C116767
is_a: DOID:2769 ! tic disorder
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:2769
name: tic disorder
def: "A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occurring intermittently and unpredictably out of a background of normal motor activity. (DO)" [http://www.tsa-usa.org/Medical/definitions.html "DO", https://www.cdc.gov/ncbddd/tourette/diagnosis.html "DO"]
synonym: "Childhood Tic Disorder" EXACT []
synonym: "childhood tic disorders" EXACT []
synonym: "Motor Tic Disorder" EXACT []
synonym: "Motor Tic Disorders" EXACT []
synonym: "PHONIC TICS" EXACT []
synonym: "Post Traumatic Tic Disorder" EXACT []
synonym: "Post-Traumatic Tic Disorders" EXACT []
synonym: "tic disorders" EXACT []
synonym: "Vocal Tic Disorder" EXACT []
synonym: "vocal tic disorders" EXACT []
xref: ICD10CM:F95
xref: ICD9CM:307.20
xref: MESH:D013981
is_a: DOID:0060038 ! specific developmental disorder
is_a: DOID:480 ! movement disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:277
name: chorioangioma
synonym: "chorioangiomas" EXACT []
synonym: "placental hemangioma" EXACT []
xref: EFO:1000480
xref: NCI:C4868
is_a: DOID:0060095 ! uterine benign neoplasm
is_a: DOID:254 ! hemangioma of intra-abdominal structure
is_a: DOID:780 ! placenta disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:2772
name: irritant dermatitis
def: "A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation. (DO)" [https://www.dermcoll.edu.au/atoz/irritant-contact-dermatitis-icd/ "DO"]
synonym: "irritant contact dermatitis" EXACT []
synonym: "irritant dermatitides" EXACT []
synonym: "primary irritant dermatitides" EXACT []
synonym: "primary irritant dermatitis" EXACT []
xref: EFO:1000718
xref: ICD10CM:L24
xref: ICD10CM:L24.9
xref: MESH:D017453
xref: NCI:C27151
is_a: DOID:2773 ! contact dermatitis

[Term]
id: DOID:2773
name: contact dermatitis
def: "A type of acute or chronic skin reaction in which sensitivity is manifested by reactivity to materials or substances coming in contact with the skin. It may involve allergic or non-allergic mechanisms." [MESH:D003877]
synonym: "contact dermatitides" EXACT []
synonym: "contact dermatitis/eczema" EXACT []
synonym: "Contact Eczema" EXACT []
synonym: "contact hypersensitivities" EXACT []
synonym: "Contact Hypersensitivity" EXACT []
synonym: "Contact Sensitivities" EXACT []
synonym: "contact sensitivity" EXACT []
synonym: "dermatitis venenata" EXACT []
synonym: "skin reaction" BROAD []
xref: EFO:0005319
xref: EFO:0020927
xref: ICD10CM:L25
xref: ICD10CM:L25.9
xref: MESH:D003877
xref: NCI:C26743
is_a: DOID:2723 ! dermatitis
is_a: DOID:9004383 ! Eczematous Skin Diseases

[Term]
id: DOID:2775
name: long bone adamantinoma
def: "An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. (DO)" [http://atlasgeneticsoncology.org/Tumors/AdamantinID5154.html "DO"]
synonym: "adamantinoma of long bone" EXACT []
synonym: "adamantinoma of long bones" EXACT []
xref: MIM:102660
is_a: DOID:2776 ! adamantinoma

[Term]
id: DOID:2776
name: adamantinoma
def: "A bone cancer that is located_in almost exclusively in the long bones. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30844202 "DO"]
synonym: "adamantinomas" EXACT []
xref: MESH:D050398
xref: NCI:C7644
xref: ORDO:55881
is_a: DOID:184 ! bone cancer

[Term]
id: DOID:2780
name: rectosigmoid junction neoplasm
synonym: "neoplasm of rectosigmoid junction" EXACT []
synonym: "rectosigmoid neoplasm" EXACT []
synonym: "rectosigmoid tumor" EXACT []
xref: NCI:C4877
is_a: DOID:1896 ! sigmoid neoplasm
is_a: DOID:1984 ! rectal benign neoplasm
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:2781
name: rectosigmoid cancer
synonym: "malignant neoplasm of rectosigmoid" EXACT []
synonym: "malignant rectosigmoid tumor" EXACT []
synonym: "rectosigmoid adenocarcinoma" NARROW []
xref: EFO:1001966
xref: NCI:C7421
is_a: DOID:2782 ! rectosigmoid junction cancer

[Term]
id: DOID:2782
name: rectosigmoid junction cancer
synonym: "malignant neoplasm of rectosigmoid junction" EXACT []
synonym: "malignant tumor of rectosigmoid junction" EXACT []
xref: ICD10CM:C19
xref: ICD9CM:154.0
xref: NCI:C7420
is_a: DOID:12192 ! sigmoid colon cancer
is_a: DOID:2780 ! rectosigmoid junction neoplasm

[Term]
id: DOID:2784
name: lung sarcoma
def: "A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. (DO)" [https://www.sciencedirect.com/topics/medicine-and-dentistry/lung-sarcoma "DO"]
synonym: "pulmonary sarcoma" EXACT []
xref: NCI:C4860
is_a: DOID:1115 ! sarcoma
is_a: DOID:1324 ! lung cancer
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:2785
name: Dandy-Walker syndrome
alt_id: MIM:220200
def: "A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. (DO)" [http://omim.org/entry/220200 "DO", https://en.wikipedia.org/wiki/Dandy-Walker_syndrome "DO", https://ghr.nlm.nih.gov/condition/dandy-walker-malformation "DO"]
synonym: "atresia of foramina of Magendie and Luschka" EXACT []
synonym: "Dandy-Walker complex" EXACT []
synonym: "Dandy-Walker complices" EXACT []
synonym: "Dandy-Walker Deformities" EXACT []
synonym: "Dandy-Walker Deformity" EXACT []
synonym: "DANDY-WALKER MALFORMATION" NARROW []
synonym: "DWM" NARROW []
synonym: "DWS" EXACT []
synonym: "Familial Dandy-Walker Syndrome" EXACT []
synonym: "internal hydrocephalus, Dandy-Walker type" EXACT []
synonym: "Luschka-Magendie foramina atresia" EXACT []
synonym: "noncommunicating hydrocephalus, Dandy-Walker Type" EXACT []
xref: EFO:1000890
xref: GARD:6242
xref: ICD10CM:Q03.1
xref: MESH:D003616
xref: NCI:C75012
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:9006534 ! Nervous System Malformations

[Term]
id: DOID:2786
name: cerebellar disease
def: "A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome. (DO)" [https://en.wikipedia.org/wiki/Cerebellum "DO", https://www.ncbi.nlm.nih.gov/pubmed/15377747 "DO"]
synonym: "cerebellar diseases" EXACT []
synonym: "Cerebellar Disorder" EXACT []
synonym: "cerebellar disorders" EXACT []
synonym: "Cerebellar Dysfunction" EXACT []
synonym: "Cerebellar Dysfunctions" EXACT []
synonym: "Cerebellar Syndrome" EXACT []
synonym: "Cerebellar Syndromes" EXACT []
synonym: "Cerebellum Disease" EXACT []
synonym: "cerebellum diseases" EXACT []
xref: MESH:D002526
is_a: DOID:936 ! brain disease

[Term]
id: DOID:2789
name: parasitic protozoa infectious disease
def: "A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. (DO)" [http://en.wikipedia.org/wiki/Protozoan "DO", http://en.wikipedia.org/wiki/Protozoan_infection "DO"]
synonym: "histomoniases" EXACT []
synonym: "histomoniasis" EXACT []
synonym: "mastigophora infectious disease" EXACT []
synonym: "protozoan infection" EXACT []
synonym: "protozoan infections" EXACT []
synonym: "sarcomastigophora infectious disease" EXACT []
xref: ICD10CM:B64
xref: MESH:D011528
xref: MONDO:0002428
xref: NCI:C34953
is_a: DOID:1398 ! parasitic infectious disease

[Term]
id: DOID:2790
name: necatoriasis
def: "A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching. (DO)" [http://en.wikipedia.org/wiki/Necator_americanus "DO"]
synonym: "necatoriases" EXACT []
xref: EFO:0007390
xref: ICD10CM:B76.1
xref: MESH:D009332
xref: NCI:C34838
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:9006535 ! Hookworm Infections

[Term]
id: DOID:2797
name: idiopathic interstitial pneumonia
def: "A pneumonia located_in the lung parenchyma of unknown cause. (DO)" [http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh "DO", https://www.ncbi.nlm.nih.gov/pubmed/11790668 "DO"]
synonym: "diffuse idiopathic pulmonary fibrosis" EXACT []
synonym: "idiopathic fibrosing alveolitis" EXACT []
synonym: "idiopathic interstitial pneumonias" EXACT []
xref: ICD10CM:J84.11
xref: MESH:D054988
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:552 ! pneumonia

[Term]
id: DOID:2799
name: bronchiolitis obliterans
def: "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiolitis%20obliterans "DO"]
synonym: "bronchiolitis exudativa" EXACT []
synonym: "bronchiolitis fibrosa obliterans" EXACT []
synonym: "Constrictive Bronchiolitides" EXACT []
synonym: "Constrictive Bronchiolitis" EXACT []
synonym: "Exudative Bronchiolitides" EXACT []
synonym: "Exudative Bronchiolitis" EXACT []
synonym: "Obliterative Bronchiolitis" EXACT []
synonym: "Proliferative Bronchiolitides" EXACT []
synonym: "Proliferative Bronchiolitis" EXACT []
xref: EFO:0007183
xref: GARD:9551
xref: MESH:D001989
xref: NCI:C62580
is_a: DOID:2942 ! bronchiolitis
is_a: DOID:3082 ! interstitial lung disease

[Term]
id: DOID:28
name: endocrine system disease
def: "A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. (DO)" [http://en.wikipedia.org/wiki/Endocrine_system "DO"]
subset: RGD_JBrowse_slim
synonym: "diseases of endocrine system" EXACT []
synonym: "DISORDER OF ENDOCRINE SYSTEM" EXACT []
synonym: "endocrine disease" EXACT []
synonym: "endocrine diseases" EXACT []
synonym: "endocrine system diseases" EXACT []
xref: EFO:0001379
xref: ICD10CM:E34.9
xref: ICD9CM:259.9
xref: MESH:D004700
xref: NCI:C3009
is_a: DOID:7 ! disease of anatomical entity

[Term]
id: DOID:2800
name: acute interstitial pneumonia
def: "A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure. (DO)" [http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh "DO", https://www.ncbi.nlm.nih.gov/pubmed/11790668 "DO"]
synonym: "accelerated interstitial pneumonia" EXACT []
synonym: "acute interstitial pneumonitis" EXACT []
synonym: "AIP" EXACT []
synonym: "Hamman-Rich disease" EXACT []
synonym: "Hamman-Rich syndrome" EXACT []
synonym: "idiopathic pulmonary fibrosis, acute fatal form" EXACT []
xref: GARD:12835
xref: ICD10CM:J84.114
xref: ICD9CM:516.33
xref: MESH:D000080203
xref: NCI:C35806
xref: ORDO:79126
is_a: DOID:2797 ! idiopathic interstitial pneumonia
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:2801
name: nonspecific interstitial pneumonia
def: "An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. (DO)" [http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh "DO"]
synonym: "NSIP" EXACT []
xref: NCI:C35717
xref: RDO:9002147
is_a: DOID:2797 ! idiopathic interstitial pneumonia
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:2810
name: middle lobe syndrome
def: "A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection. (DO)" [http://www.thepcrj.org/journ/aop/pcrj-2008-09-0085.pdf "DO"]
synonym: "Brock's syndrome" EXACT []
synonym: "Brocks Syndrome" EXACT []
synonym: "Brock Syndrome" EXACT []
synonym: "middle lobe syndromes" EXACT []
xref: EFO:0007367
xref: MESH:D008878
is_a: DOID:225 ! syndrome
is_a: DOID:850 ! lung disease
is_a: DOID:9004372 ! Pulmonary Atelectasis

[Term]
id: DOID:2814
name: malignant neoplasm of acoustic nerve
synonym: "malignant tumor of acoustic vestibular nerve" EXACT []
synonym: "malignant tumor of the vestibulocochlear nerve" EXACT []
synonym: "malignant tumour of acoustic vestibular nerve" EXACT []
xref: ICD10CM:C72.4
xref: NCI:C4539
xref: RDO:9005025
is_a: DOID:12657 ! vestibulocochlear nerve disease
is_a: DOID:2815 ! cranial nerve malignant neoplasm
is_a: DOID:833 ! auditory system cancer
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:2815
name: cranial nerve malignant neoplasm
alt_id: DOID:338
def: "A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells. (DO)" [https://link.springer.com/chapter/10.1007/978-3-642-02874-8_15 "DO"]
synonym: "malignant cranial nerve neoplasms" EXACT []
synonym: "malignant cranial nerve tumors" EXACT []
synonym: "malignant neoplasm of cranial nerve" EXACT []
synonym: "malignant neoplasm of cranial nerves" EXACT []
synonym: "malignant tumor of cranial nerve" EXACT []
synonym: "malignant tumor of the cranial nerve" EXACT []
xref: EFO:1000884
xref: ICD10CM:C72.50
xref: ICD9CM:192.0
xref: NCI:C2963
xref: NCI:C3571
is_a: DOID:1192 ! peripheral nervous system neoplasm
is_a: DOID:3620 ! central nervous system cancer
is_a: DOID:9004392 ! Cranial Nerve Neoplasms
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:2816
name: malignant oculomotor nerve tumor
synonym: "IIIrd Cranial nerve neoplasm, malignant" EXACT []
synonym: "primary malignant neoplasm of oculomotor nerve" EXACT []
xref: NCI:C6995
is_a: DOID:2817 ! cranial nerve III tumor

[Term]
id: DOID:2817
name: cranial nerve III tumor
def: "A benign or malignant neoplasm involving the oculomotor nerve. (NCI)" []
synonym: "cranial nerve III tumour" EXACT []
synonym: "neoplasm of oculomotor nerve" EXACT []
synonym: "oculomotor nerve tumor" EXACT []
synonym: "oculomotor nerve tumour" EXACT []
xref: NCI:C6994
is_a: DOID:2815 ! cranial nerve malignant neoplasm
is_a: DOID:562 ! third cranial nerve disease
created_by: rgd
creation_date: 2017-02-17T16:02:35Z

[Term]
id: DOID:2825
name: nose disease
def: "Disorders of the nose, general or unspecified." [MESH:D009668]
synonym: "disorder of the nose" EXACT []
synonym: "nasal disease" EXACT []
synonym: "Nasal Diseases" EXACT []
synonym: "Nasal Disorder" EXACT []
synonym: "nasal disorders" EXACT []
synonym: "nose diseases" EXACT []
xref: MESH:D009668
xref: MONDO:0002436
is_a: DOID:9007241 ! Otorhinolaryngologic Diseases
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:2828
name: acalculous cholecystitis
def: "A cholecystitis characterized by the absence of gallstones. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30487697/ "DO", https://pubmed.ncbi.nlm.nih.gov/34657038/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362504/ "DO"]
synonym: "Acalculous Gallbladder Inflammation" EXACT []
synonym: "acute acalculous cholecystitis" EXACT []
synonym: "acute cholecystitis without calculus" EXACT []
synonym: "cholecystitis without calculus" EXACT []
xref: EFO:1000790
xref: MESH:D042101
xref: NCI:C35578
is_a: DOID:1949 ! cholecystitis

[Term]
id: DOID:2832
name: geotrichosis
def: "An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35018329/ "DO"]
synonym: "geotrichoses" EXACT []
xref: EFO:0007284
xref: ICD10CM:B48.3
xref: MESH:D005847
is_a: DOID:2473 ! opportunistic mycosis

[Term]
id: DOID:2833
name: dehydration polycythemia
xref: NCI:C27310
xref: RDO:9002584
is_a: DOID:2834 ! acquired polycythemia
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:2834
name: acquired polycythemia
synonym: "secondary polycythemia" EXACT []
xref: ICD9CM:289.0
xref: NCI:C27178
is_a: DOID:8432 ! polycythemia
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:2835
name: polycythemia due to hypoxia
xref: EFO:0005805
xref: NCI:C27312
xref: RDO:9002586
is_a: DOID:2834 ! acquired polycythemia
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:2838
name: stress polycythemia
synonym: "emotional polycythemia" EXACT []
synonym: "Gaisbock's syndrome" EXACT []
xref: ICD10CM:D75.1
xref: NCI:C27174
is_a: DOID:2834 ! acquired polycythemia
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:2839
name: erythropoietin polycythemia
synonym: "nephrogenous polycythemia" EXACT []
synonym: "polycythaemia due to excess erythropoetin production" EXACT []
synonym: "polycythemia due to excess erythopoetin production" EXACT []
synonym: "secondary polycythemia with excess erythropoietin" EXACT []
xref: NCI:C35434
is_a: DOID:2834 ! acquired polycythemia
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:2841
name: asthma
alt_id: MIM:600807
alt_id: MIM:601690
alt_id: MIM:607277
alt_id: MIM:608584
alt_id: MIM:609958
alt_id: MIM:610906
alt_id: MIM:611064
alt_id: MIM:611403
alt_id: MIM:611960
alt_id: MIM:613207
def: "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. (DO)" [http://www.nhlbi.nih.gov/health/dci/Diseases/Asthma/Asthma_WhatIs.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK430901/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK7223/ "DO"]
synonym: "adult onset asthma" NARROW []
synonym: "airway hyperresponsiveness" NARROW []
synonym: "allergic airway inflammation" RELATED []
synonym: "AS1" EXACT []
synonym: "ASRT1" RELATED []
synonym: "ASRT2" RELATED []
synonym: "ASRT3" RELATED []
synonym: "ASRT4" RELATED []
synonym: "ASRT5" RELATED []
synonym: "ASRT6" RELATED []
synonym: "ASRT7" RELATED []
synonym: "ASRT8" RELATED []
synonym: "asthma and allergic rhinitis, susceptibility to" RELATED []
synonym: "asthma and atopy, susceptibility to" RELATED []
synonym: "ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN" NARROW []
synonym: "asthma, protection against" RELATED []
synonym: "Asthma-Related Traits, Susceptibility To, 1" RELATED []
synonym: "Asthma-Related Traits, Susceptibility To, 2" RELATED []
synonym: "Asthma-Related Traits, Susceptibility To, 3" RELATED []
synonym: "Asthma-Related Traits, Susceptibility To, 4" RELATED []
synonym: "Asthma-Related Traits, Susceptibility To, 5" RELATED []
synonym: "Asthma-Related Traits, Susceptibility To, 6" RELATED []
synonym: "Asthma-Related Traits, Susceptibility To, 7" RELATED []
synonym: "Asthma-Related Traits, Susceptibility To, 8" RELATED []
synonym: "asthmas" EXACT []
synonym: "asthma, susceptibility to" RELATED []
synonym: "asthma-traits, susceptibility to asthma, protection against" RELATED []
synonym: "beta-2-adrenoreceptor agonist, reduced response to" RELATED []
synonym: "bronchial asthma" EXACT []
synonym: "childhood athma, susceptibility to" RELATED []
synonym: "rhinoconjunctivitis, susceptibility to" RELATED []
xref: EFO:0000270
xref: EFO:0005414
xref: EFO:1002011
xref: GARD:10246
xref: ICD10CM:J45
xref: ICD9CM:493
xref: MESH:D001249
xref: MONDO:0004979
xref: NCI:C28397
is_a: DOID:0060496 ! respiratory allergy
is_a: DOID:1176 ! bronchial disease
is_a: DOID:2320 ! obstructive lung disease

[Term]
id: DOID:2842
name: Jervell-Lange Nielsen syndrome
alt_id: MIM:220400
alt_id: RDO:0007475
def: "A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2)." [MESH:D029593]
synonym: "Cardio-Auditory-Syncope Syndrome" EXACT []
synonym: "Cardioauditory Syndrome of Jervell and Lange Nielsen" EXACT []
synonym: "Deafness, Congenital, and Functional Heart Disease" EXACT []
synonym: "Jervell and Lange Nielsen Syndrome" EXACT []
synonym: "Jervell And Lange-Nielsen Syndrome 1" EXACT []
synonym: "Jervell and Lange-Nielson syndrome" EXACT [SNOMEDCT_2005_07_31:373905003]
synonym: "JLNS1" EXACT []
synonym: "KCNQ1-related acquired long QT syndrome" NARROW []
synonym: "KCNQ1-related Jervell and Lange-Nielsen syndrome" NARROW []
synonym: "Prolonged QT Interval in EKG and Sudden Death" EXACT []
synonym: "Surdo Cardiac Syndrome" EXACT []
synonym: "Surdo-Cardiac Syndromes" EXACT []
xref: EFO:0004689
xref: GARD:3048
xref: MESH:D029593
xref: MIM:PS220400
xref: MONDO:0002441
xref: NCI:C84793
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:2843
name: long QT syndrome
def: "An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). (DO)" [http://en.wikipedia.org/wiki/Long_QT_syndrome "DO"]
synonym: "acquired long QT syndrome" NARROW []
synonym: "congenital long QT syndrome" NARROW []
synonym: "long QT interval, drug induced, association with" RELATED []
synonym: "long Q-T syndrome" EXACT []
synonym: "long QT syndrome, drug-associated" NARROW []
synonym: "LQT" EXACT []
synonym: "PROLONGED QT INTERVAL" EXACT []
xref: EFO:0005138
xref: GARD:6922
xref: ICD10CM:I45.81
xref: ICD9CM:426.82
xref: MESH:D008133
xref: MIM:PS192500
xref: MONDO:0019171
xref: NCI:C34786
xref: NCI:C85049
xref: ORDO:768
is_a: DOID:0060036 ! intrinsic cardiomyopathy
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:2846
name: bruxism
def: "A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. (DO)" [http://en.wikipedia.org/wiki/Bruxism "DO"]
synonym: "bruxism - teeth grinding" EXACT []
synonym: "teeth grinding" EXACT []
synonym: "teeth grinding disorder" EXACT []
synonym: "teeth grinding disorders" EXACT []
xref: ICD10CM:F45.8
xref: ICD10CM:G47.63
xref: ICD9CM:327.53
xref: MESH:D002012
xref: NCI:C73511
is_a: DOID:1091 ! tooth disease
is_a: DOID:535 ! sleep disorder

[Term]
id: DOID:285
name: hairy cell leukemia
def: "A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope. (DO)" [https://en.wikipedia.org/wiki/Hairy_cell_leukemia "DO", https://www.mayoclinic.org/diseases-conditions/hairy-cell-leukemia/symptoms-causes/syc-20372956 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30723113 "DO"]
synonym: "hairy cell leukemias" EXACT []
synonym: "Leukemic Reticuloendothelioses" EXACT []
synonym: "leukemic reticuloendotheliosis" EXACT []
xref: EFO:1000956
xref: GARD:6560
xref: ICD10CM:C91.4
xref: ICD9CM:202.4
xref: ICDO:9940/3
xref: MESH:D007943
xref: NCI:C7402
is_a: DOID:1040 ! chronic lymphocytic leukemia

[Term]
id: DOID:2855
name: hyperthyroxinemia
def: "A thyroid gland disease that is characterized by elevated thyroxine levels in the blood. (DO)" [https://en.wikipedia.org/wiki/Hyperthyroxinemia "DO"]
synonym: "Hyperthyroxinemias" EXACT []
xref: EFO:0004127
xref: MESH:D006981
xref: NCI:C131850
is_a: DOID:50 ! thyroid gland disease

[Term]
id: DOID:2856
name: euthyroid sick syndrome
def: "Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased." [MESH:D005067]
synonym: "euthyroid sick syndromes" EXACT []
synonym: "High T4 Syndrome" EXACT []
synonym: "High T4 Syndromes" EXACT []
synonym: "Low T3 and Low T4 Syndrome" EXACT []
synonym: "Low T3 High T4 Syndrome" EXACT []
synonym: "Low T3 Low T4 Syndrome" EXACT []
synonym: "Low T3 Syndrome" EXACT []
synonym: "non-thyroidal illness syndrome" EXACT []
synonym: "non-thyroidal illness syndromes" EXACT []
xref: EFO:1000931
xref: ICD10CM:E07.81
xref: ICD9CM:790.94
xref: MESH:D005067
xref: NCI:C113170
is_a: DOID:225 ! syndrome
is_a: DOID:50 ! thyroid gland disease

[Term]
id: DOID:2859
name: hemoglobin C disease
alt_id: DOID:9000130
def: "A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderate anemia. There may be intermittent abdominal discomfort, splenomegaly, and slight jaundice." [MESH:D006445]
synonym: "Hb-C disease" EXACT []
synonym: "hemoglobin C" EXACT []
synonym: "hemoglobin C diseases" EXACT []
xref: GARD:2640
xref: MESH:C531699
xref: MESH:D006445
xref: NCI:C34675
is_a: DOID:2860 ! hemoglobinopathy

[Term]
id: DOID:2860
name: hemoglobinopathy
alt_id: RDO:0004839
def: "A group of inherited disorders characterized by structural alterations within the hemoglobin molecule." [MESH:D006453]
synonym: "abnormal hemoglobin" RELATED []
synonym: "Hb Footscray" RELATED []
synonym: "HEMOGLOBIN ABRUZZO" RELATED []
synonym: "Hemoglobin Adana" RELATED []
synonym: "Hemoglobin Aghia Sophia" RELATED []
synonym: "Hemoglobin Agrinio" RELATED []
synonym: "HEMOGLOBIN ATHENS-GEORGIA" RELATED []
synonym: "HEMOGLOBIN BEIRUT" RELATED []
synonym: "HEMOGLOBIN BIRMINGHAM (USA)" RELATED []
synonym: "HEMOGLOBIN BROUSSAIS" RELATED []
synonym: "HEMOGLOBIN BUFFALO" RELATED []
synonym: "HEMOGLOBIN BUGINESE-X" RELATED []
synonym: "Hemoglobin Clinico-Madrid" RELATED []
synonym: "HEMOGLOBIN DEACONESS" RELATED []
synonym: "Hemoglobin Footscray" RELATED []
synonym: "HEMOGLOBIN HASHARON" RELATED []
synonym: "HEMOGLOBIN HIKARI" RELATED []
synonym: "HEMOGLOBIN HOPKINS 2" RELATED []
synonym: "Hemoglobin Icaria" RELATED []
synonym: "HEMOGLOBIN J (BROUSSAIS)" RELATED []
synonym: "HEMOGLOBIN J (LOME)" RELATED []
synonym: "HEMOGLOBIN K (WOOLWICH)" RELATED []
synonym: "HEMOGLOBIN L (FERRARA)" RELATED []
synonym: "HEMOGLOBIN LESLIE" RELATED []
synonym: "HEMOGLOBIN MONTGOMERY" RELATED []
synonym: "HEMOGLOBIN O (BUGINESE-X)" RELATED []
synonym: "HEMOGLOBIN O (INDONESIA)" RELATED []
synonym: "HEMOGLOBIN O (OLIVIERE)" RELATED []
synonym: "HEMOGLOBIN OLIVIERE" RELATED []
synonym: "hemoglobinopathies" EXACT []
synonym: "HEMOGLOBIN RALEIGH" RELATED []
synonym: "HEMOGLOBIN SAALE" RELATED []
synonym: "Hemoglobin Sallanches" RELATED []
synonym: "HEMOGLOBIN SEAL ROCK" RELATED []
synonym: "HEMOGLOBIN SEALY" RELATED []
synonym: "HEMOGLOBIN SHELBY" RELATED []
synonym: "HEMOGLOBIN SINAI" RELATED []
synonym: "HEMOGLOBIN SUN PRAIRIE" RELATED []
synonym: "HEMOGLOBIN TENDE" RELATED []
synonym: "HEMOGLOBIN TYNE" RELATED []
synonym: "hemoglobin Val de Marne" RELATED []
synonym: "HEMOGLOBIN WACO" RELATED []
synonym: "HEMOGLOBIN YUSA" RELATED []
xref: GARD:12455
xref: MESH:D006453
xref: NCI:C3092
is_a: DOID:589 ! congenital hemolytic anemia

[Term]
id: DOID:2861
name: congenital nonspherocytic hemolytic anemia
def: "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE." [MESH:D000746]
synonym: "chronic nonspherocytic hemolytic anemia" EXACT []
synonym: "CNSHA" EXACT []
synonym: "congenital nonspherocytic hemolytic anaemia" EXACT []
synonym: "HEMOGLOBIN MANUKAU" RELATED []
synonym: "hereditary nonspherocytic hemolytic anaemia" EXACT []
synonym: "hereditary nonspherocytic hemolytic anemia" EXACT []
synonym: "HNSHA" EXACT []
xref: EFO:1000641
xref: MESH:D000746
xref: ORDO:712
is_a: DOID:589 ! congenital hemolytic anemia

[Term]
id: DOID:2862
name: glucosephosphate dehydrogenase deficiency
def: "A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). (DO)" [http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency "DO"]
synonym: "deficiency of G-6PD" EXACT []
synonym: "deficiency of glucose 6 phosphate dehydrogenase" EXACT []
synonym: "G6PD deficiencies" EXACT []
synonym: "G6PD Deficiency" EXACT []
synonym: "G6PD IOWA" RELATED []
synonym: "G6PD IOWA CITY" RELATED []
synonym: "G6PD SPRINGFIELD" RELATED []
synonym: "G6PD WALTER REED" RELATED []
synonym: "Glucose-6-Phosphate Dehydrogenase Deficiencies" EXACT []
synonym: "Glucose 6 Phosphate Dehydrogenase Deficiency" EXACT []
synonym: "Glucosephosphate Dehydrogenase Deficiencies" EXACT []
synonym: "GPD Deficiencies" EXACT []
synonym: "GPD deficiency" EXACT []
synonym: "hemolytic anemia due to G6PD deficiency" EXACT []
xref: EFO:0007287
xref: GARD:6520
xref: MESH:D005955
xref: NCI:C98933
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:589 ! congenital hemolytic anemia

[Term]
id: DOID:2870
name: endometrial adenocarcinoma
def: "An endometrial carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of endometrium" EXACT []
synonym: "adenocarcinoma of the endometrium" EXACT []
synonym: "adenocarcinoma of uterus" EXACT []
synonym: "EEC" EXACT []
synonym: "endometrial adenoacanthoma" EXACT []
synonym: "endometrial endometrioid adenocarcinoma" EXACT []
synonym: "ENDOMETRIAL ENDOMETRIOID ADENOCARCINOMA, VARIANT WITH SQUAMOUS DIFFERENTIATION" NARROW []
synonym: "endometrial endometrioid adenocarcinoma with squamous differentiation" NARROW []
synonym: "endometrial endometrioid carcinoma" EXACT []
synonym: "endometrioid adenoma or carcinoma" EXACT []
synonym: "endometrioid adenomas and carcinomas" BROAD []
synonym: "endometrioid carcinoma of endometrium" EXACT []
synonym: "endometrioid endometrial cancer" BROAD []
synonym: "Type I endometrial carcinoma" EXACT []
xref: EFO:0005232
xref: EFO:1000233
xref: EFO:1001514
xref: EFO:1001953
xref: NCI:C3769
xref: NCI:C6287
xref: NCI:C6290
xref: NCI:C63961
xref: NCI:C7359
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:9004265 ! Endometrioid Carcinomas
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:2871
name: endometrial carcinoma
def: "A endometrial cancer that is located_in the tissue lining the uterus. (DO)" [http://www.cancer.gov/cancertopics/types/endometrial "DO"]
synonym: "carcinoma of endometrium" EXACT []
synonym: "carcinoma of the Endometrium" EXACT []
synonym: "endometrial carcinomas" EXACT []
synonym: "endometrioid carcinoma of female Reproductive system" EXACT []
synonym: "endometrium carcinoma" EXACT []
synonym: "endometrium carcinomas" EXACT []
xref: EFO:0004230
xref: EFO:1000242
xref: EFO:1001512
xref: NCI:C7558
is_a: DOID:1380 ! endometrial cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:2876
name: laryngeal squamous cell carcinoma
def: "A laryngeal carcinoma that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"]
synonym: "epidermoid carcinoma of the larynx" EXACT []
synonym: "squamous cell carcinoma of larynx" EXACT []
xref: EFO:0006352
xref: NCI:C4044
xref: ORDO:494550
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:2600 ! laryngeal carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:2877
name: larynx sarcoma
def: "A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. (DO)" [https://www.sciencedirect.com/science/article/pii/S1726490109701893 "DO"]
synonym: "sarcoma of larynx" EXACT []
xref: NCI:C6020
is_a: DOID:1115 ! sarcoma
is_a: DOID:2596 ! larynx cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:2879
name: nodular degeneration of cornea
xref: ICD10CM:H18.45
xref: ICD9CM:371.46
is_a: DOID:1237 ! corneal degeneration
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:288
name: endometriosis of uterus
alt_id: MIM:600458
def: "A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"]
synonym: "adenomyoses" EXACT []
synonym: "adenomyosis" EXACT []
synonym: "endometriosis interna" EXACT []
synonym: "endometriosis of myometrium" EXACT []
synonym: "myometrium endometriosis" EXACT []
synonym: "uterine adenomyosis" EXACT []
xref: EFO:1001757
xref: ICD10CM:N80.0
xref: ICD9CM:617.0
xref: MESH:D062788
xref: NCI:C6996
is_a: DOID:1005 ! endometrial disease
is_a: DOID:289 ! endometriosis
is_a: DOID:345 ! uterine disease

[Term]
id: DOID:2883
name: prostatic adenoma
def: "A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33102081/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24649766 "DO"]
synonym: "adenoma of prostate" EXACT []
synonym: "benign adenoma of prostate" EXACT []
synonym: "prostate adenoma" EXACT []
synonym: "prostatic adenomas" EXACT []
xref: EFO:0000284
xref: NCI:C4795
is_a: DOID:0060087 ! male reproductive organ benign neoplasm
is_a: DOID:657 ! adenoma
is_a: DOID:9002304 ! Prostatic Neoplasms
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:2885
name: benign prostate phyllodes tumor
synonym: "benign Phyllodes neoplasm of the prostate" EXACT [NCI2004_11_17:C5532]
synonym: "benign prostate phyllodes tumour" EXACT []
synonym: "Phyllodes neoplasm of the prostate" EXACT [NCI2004_11_17:C7574]
synonym: "prostate phyllodes tumor" EXACT []
synonym: "prostate phyllodes tumour" EXACT []
xref: NCI:C5532
xref: NCI:C7574
xref: RDO:9005065
is_a: DOID:0060087 ! male reproductive organ benign neoplasm
is_a: DOID:9004240 ! Phyllodes Tumor
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:2887
name: prostate leiomyoma
def: "A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037125/ "DO"]
synonym: "prostatic leiomyoma" EXACT []
xref: NCI:C5544
is_a: DOID:0060087 ! male reproductive organ benign neoplasm
is_a: DOID:127 ! leiomyoma
is_a: DOID:47 ! prostate disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:2889
name: retrocochlear disease
def: "Pathological processes involving the VESTIBULOCOCHLEAR NERVE; BRAINSTEM; or CENTRAL NERVOUS SYSTEM. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss." [MESH:D012181]
synonym: "retrocochlear diseases" EXACT []
synonym: "Retrocochlear Hearing Loss" EXACT []
xref: MESH:D012181
xref: RDO:0004713
is_a: DOID:2742 ! auditory system disease

[Term]
id: DOID:289
name: endometriosis
alt_id: MIM:131200
def: "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. (DO)" [https://en.wikipedia.org/?title=Endometriosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/20574791 "DO"]
synonym: "ENDO1" EXACT []
synonym: "endometrioma" EXACT []
synonym: "endometriomas" EXACT []
synonym: "endometrioses" EXACT []
synonym: "ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1" RELATED []
xref: EFO:0001065
xref: ICD10CM:N80
xref: ICD10CM:N80.9
xref: ICD9CM:617
xref: MESH:D004715
xref: NCI:C3014
is_a: DOID:229 ! female reproductive system disease

[Term]
id: DOID:2891
name: thyroid adenoma
def: "An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells. (DO)" [https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/thyroid-adenoma "DO"]
synonym: "adenoma of thyroid gland" EXACT []
synonym: "thyroid adenomas" EXACT []
xref: EFO:0000499
xref: EFO:0003841
xref: NCI:C3502
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:657 ! adenoma
is_a: DOID:9007496 ! Thyroid Benign Neoplasms
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:2892
name: exocervical carcinoma
def: "A cervix carcinoma that is located_in the exocervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14675699 "DO"]
synonym: "carcinoma of exocervix" EXACT []
synonym: "carcinoma of the Exocervix" EXACT [NCI2004_11_17:C7453]
xref: NCI:C7453
is_a: DOID:2893 ! cervix carcinoma

[Term]
id: DOID:2893
name: cervix carcinoma
def: "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Cervical_cancer "DO"]
synonym: "carcinoma cervix uteri" EXACT []
synonym: "carcinoma of cervix" EXACT []
synonym: "carcinoma of the cervix uteri" EXACT []
synonym: "cervical carcinoma" EXACT []
synonym: "HPV-associated cervical carcinoma" NARROW []
xref: EFO:0001061
xref: EFO:1002015
xref: NCI:C24068
xref: NCI:C9039
is_a: DOID:305 ! carcinoma
is_a: DOID:4362 ! cervical cancer

[Term]
id: DOID:2907
name: Goldenhar syndrome
alt_id: MIM:141400
alt_id: MIM:164210
def: "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. (DO)" [http://en.wikipedia.org/wiki/Goldenhar_syndrome "DO", http://www.healthline.com/galecontent/goldenhar-syndrome "DO", https://www.faces-cranio.org/goldenhar "DO"]
synonym: "CFM1" EXACT []
synonym: "Craniofacial Microsomia" EXACT []
synonym: "craniofacial microsomia 1" EXACT []
synonym: "craniofacial microsomias" EXACT []
synonym: "Facioauriculovertebral Dysplasia" EXACT []
synonym: "facioauriculovertebral dysplasias" EXACT []
synonym: "Facioauriculovertebral Sequence" EXACT []
synonym: "facioauriculovertebral sequences" EXACT []
synonym: "facio-auriculo-vertebral spectrum" EXACT []
synonym: "FAV SEQUENCE" EXACT []
synonym: "First and Second Branchial Arch Syndrome" EXACT []
synonym: "first and second pharyngeal arch syndromes" EXACT []
synonym: "first arch syndrome" EXACT []
synonym: "Goldenhar Disease" EXACT []
synonym: "Goldenhar Gorlin Syndrome" EXACT []
synonym: "Goldenhar-Gorlin Syndromes" EXACT []
synonym: "Goldenhar Syndrome with Ipsilateral Radial Defect" EXACT []
synonym: "Hemifacial Microsomia" EXACT []
synonym: "Hemifacial Microsomia with Radial Defects" EXACT []
synonym: "HFM" EXACT []
synonym: "Lateral Facial Dysplasia" EXACT []
synonym: "Lateral Facial Dysplasias" EXACT []
synonym: "Microsomia Hemifacial Radial Defects" EXACT []
synonym: "Moeschler Clarren Syndrome" EXACT []
synonym: "OAV (oculoauriculovertebral) dysplasia" EXACT []
synonym: "OAV DYSPLASIA" EXACT []
synonym: "OAVS" EXACT []
synonym: "OAVS with Radial Defect" EXACT []
synonym: "Oculoauriculovertebral Dysplasia" EXACT []
synonym: "Oculoauriculovertebral Dysplasias" EXACT []
synonym: "Oculoauriculovertebral Spectrum" EXACT []
synonym: "Oculoauriculovertebral Spectrums" EXACT []
synonym: "Oculoauriculovertebral Spectrum with Radial Defect" EXACT []
synonym: "Oculoauriculovertebral Syndrome" EXACT []
synonym: "oral-mandibular-auricular syndrome" EXACT []
synonym: "oral-mandibular-auricular syndromes" EXACT []
synonym: "otomandibular dysostoses" EXACT []
synonym: "otomandibular dysostosis" EXACT []
xref: GARD:6540
xref: MESH:D006053
xref: NCI:C84740
xref: ORDO:374
is_a: DOID:225 ! syndrome
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:2908
name: Treacher Collins syndrome
def: "A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1532/ "DO"]
synonym: "Franceschetti syndrome" EXACT []
synonym: "Mandibulofacial Dysostosis (MFD1)" EXACT []
synonym: "MFD1" EXACT []
synonym: "TCS" EXACT []
synonym: "Treacher Collins syndrome, dominant" NARROW []
xref: EFO:0003954
xref: GARD:9124
xref: ICD10CM:Q75.4
xref: MIM:PS154500
xref: MONDO:0002457
xref: NCI:C75018
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:2913
name: acute pancreatitis
def: "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. (DO)" [https://www.nhs.uk/conditions/acute-pancreatitis/ "DO"]
synonym: "AAP" NARROW []
synonym: "asparaginase-induced acute pancreatitis" NARROW []
synonym: "MAP" NARROW []
synonym: "mild acute pancreatitis" NARROW []
synonym: "SAP" NARROW []
synonym: "severe acute pancreatitis" NARROW []
xref: EFO:1000652
xref: EFO:1001507
xref: ICD10CM:K85
xref: ICD9CM:577.0
xref: NCI:C95437
is_a: DOID:4989 ! pancreatitis

[Term]
id: DOID:2914
name: immune system disease
def: "A disease of anatomical entity that is located_in the immune system. (DO)" [http://en.wikipedia.org/wiki/Immune_system "DO"]
subset: RGD_JBrowse_slim
synonym: "diseases of immune system" EXACT []
synonym: "hyper-inflammatory immune response" NARROW []
synonym: "Immune Disease" EXACT []
synonym: "Immune Diseases" EXACT []
synonym: "Immune Disorder" EXACT []
synonym: "Immune Disorders" EXACT []
synonym: "Immune System Diseases" EXACT []
synonym: "Immunological Disease" EXACT []
synonym: "Immunological Diseases" EXACT []
synonym: "Immunologic Disease" EXACT []
synonym: "immunologic diseases" EXACT []
xref: EFO:0000540
xref: EFO:0007926
xref: ICD10CM:D89.9
xref: ICD9CM:279.9
xref: MESH:D007154
is_a: DOID:7 ! disease of anatomical entity
is_a: DOID:9003859 ! Immune & Inflammatory Diseases

[Term]
id: DOID:2916
name: hypersensitivity reaction type IV disease
def: "A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response. (DO)" [https://en.wikipedia.org/wiki/Type_IV_hypersensitivity "DO"]
synonym: "immunoproliferative disease" RELATED []
xref: ICD10CM:C88.9
is_a: DOID:0060056 ! hypersensitivity reaction disease

[Term]
id: DOID:2917
name: cryoglobulinemia
def: "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures. (DO)" [http://en.wikipedia.org/wiki/Cryoglobulinemia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000540.htm "DO"]
synonym: "cryoglobulinemias" EXACT []
synonym: "cryoimmunoglobulinaemia" EXACT []
xref: EFO:0005846
xref: GARD:6217
xref: ICD10CM:D89.1
xref: MESH:D003449
xref: NCI:C26736
is_a: DOID:2916 ! hypersensitivity reaction type IV disease
is_a: DOID:484 ! vascular hemostatic disease
is_a: DOID:9003571 ! Paraproteinemias

[Term]
id: DOID:292
name: lacrimal system cancer
synonym: "lacrimal system neoplasm" EXACT []
synonym: "neoplasm of lacrimal system" EXACT []
synonym: "tumor of the lacrimal system" EXACT []
xref: NCI:C5102
is_a: DOID:1400 ! lacrimal apparatus disease
is_a: DOID:2174 ! ocular cancer
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:2920
name: membranoproliferative glomerulonephritis
def: "Chronic glomerulonephritis characterized histologically by proliferation of MESANGIAL CELLS, increase in the MESANGIAL EXTRACELLULAR MATRIX, and a thickening of the glomerular capillary walls. This may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Various subtypes are classified by their abnormal ultrastructures and immune deposits. Hypocomplementemia is a characteristic feature of all types of MPGN." [MESH:D015432]
synonym: "chronic glomerulonephritis, lobular" EXACT [MTHICD9_2006:582.2]
synonym: "Dense Deposit Disease" EXACT []
synonym: "Hypocomplementemic Glomerulonephritides" EXACT []
synonym: "Hypocomplementemic Glomerulonephritis" EXACT []
synonym: "Lobular glomerulonephritis" EXACT [SNOMEDCT_2005_07_31:80321008]
synonym: "Membranoproliferative Glomerulonephritides" EXACT []
synonym: "Membranoproliferative Glomerulonephritis, Type I" EXACT []
synonym: "Membranoproliferative Glomerulonephritis Type II" NARROW []
synonym: "Membranoproliferative Glomerulonephritis, Type III" NARROW []
synonym: "MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY" NARROW []
synonym: "Mesangiocapillary Glomerulonephritides" EXACT []
synonym: "Mesangiocapillary Glomerulonephritis" EXACT []
synonym: "Mesangiocapillary Glomerulonephritis, Type I" EXACT []
synonym: "MESANGIOCAPILLARY GLOMERULONEPHRITIS, TYPE II" NARROW []
synonym: "MPGN" EXACT []
synonym: "NON-IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS" NARROW []
synonym: "Subendothelial Membranoproliferative Glomerulonephritis" EXACT []
xref: GARD:11982
xref: MESH:D015432
xref: MIM:PS137950
xref: NCI:C34644
is_a: DOID:2914 ! immune system disease
is_a: DOID:9005665 ! Chronic Mesangial Proliferative Glomerulonephritis

[Term]
id: DOID:2921
name: glomerulonephritis
def: "A nephritis that causes inflammation of the glomeruli located_in kidney. (DO)" [http://en.wikipedia.org/wiki/Glomerulonephritis "DO"]
synonym: "Bright Disease" EXACT []
synonym: "Glomerulonephritides" EXACT []
synonym: "Primary Glomerulonephritis" RELATED []
xref: GARD:6516
xref: MESH:D005921
xref: MONDO:0002462
xref: NCI:C26784
is_a: DOID:10952 ! nephritis
is_a: DOID:9000104 ! Glomerular Diseases

[Term]
id: DOID:2926
name: Klippel-Trenaunay syndrome
alt_id: MESH:C536889
alt_id: MIM:149000
def: "A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. (DO)" [http://en.wikipedia.org/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome "DO", http://omim.org/entry/149000 "DO"]
synonym: "Angio Osteohypertrophy Syndrome" EXACT []
synonym: "Angioosteohypertrophy Syndrome" EXACT []
synonym: "Angioosteohypertrophy Syndromes" EXACT []
synonym: "angio-osteohypertrophy syndromes" EXACT []
synonym: "Congenital Dysplastic Angiopathies" EXACT []
synonym: "Congenital Dysplastic Angiopathy" EXACT []
synonym: "Haemangiectatic hypertrophy" EXACT []
synonym: "Klippel Trenaunay Disease" EXACT []
synonym: "Klippel-Trenaunay Syndromes" EXACT []
synonym: "Klippel-Trenaunay-Weber syndrome" EXACT []
synonym: "Klippel Trénaunay Weber Syndrome" EXACT []
synonym: "KTS" EXACT []
synonym: "KTW Syndrome" EXACT []
synonym: "KTW syndromes" EXACT []
synonym: "Weber Klippel Trenaunay" EXACT []
xref: EFO:0007334
xref: MESH:D007715
xref: NCI:C84801
xref: ORDO:90308
is_a: DOID:225 ! syndrome
is_a: DOID:9004079 ! Angiomatosis

[Term]
id: DOID:2929
name: Newcastle disease
def: "A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. (DO)" [https://en.wikipedia.org/wiki/Virulent_Newcastle_disease "DO", https://www.agric.wa.gov.au/livestock-biosecurity/newcastle-disease "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1526237/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1822603/ "DO"]
synonym: "Newcastle's disease" EXACT []
synonym: "pseudo-fowlpest" EXACT []
xref: EFO:0007395
xref: MESH:D009521
xref: NCI:C34849
is_a: DOID:9002653 ! Avulavirus Infections
is_a: DOID:9006114 ! Bird Diseases

[Term]
id: DOID:293
name: lacrimal gland carcinoma
synonym: "carcinoma of the lacrimal gland" EXACT []
xref: NCI:C6129
is_a: DOID:294 ! lacrimal gland cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:2934
name: aleutian mink disease
def: "A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. (DO)" [http://en.wikipedia.org/wiki/Aleutian_Disease "DO", http://www.cdc.gov/eid/content/15/12/2040.htm "DO"]
synonym: "Aleutian disease" EXACT []
synonym: "Aleutian Disease of Mink" EXACT []
xref: EFO:0007139
xref: MESH:D000453
is_a: DOID:2935 ! Chediak-Higashi syndrome
is_a: DOID:9000331 ! Parvoviridae Infections
is_a: DOID:9004448 ! Slow Virus Diseases
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:2935
name: Chediak-Higashi syndrome
alt_id: MESH:C531649
alt_id: MIM:214500
def: "A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. (DO)" [http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/25129365 "DO"]
synonym: "AUTOINFLAMMATORY SYNDROME" NARROW []
synonym: "Chediak - Steinbrinck anomaly" EXACT []
synonym: "Chediak-Steinbrinck-Higashi syndrome" EXACT []
synonym: "CHS" EXACT []
synonym: "Chédiak-Higashi syndrome" EXACT []
synonym: "LYST-RELATED CONDITION" EXACT []
synonym: "neutropenia and hyperlymphocytosis with large granular lymphocytes" EXACT []
synonym: "oculocutaneous albinism with leukocyte defect" EXACT []
xref: GARD:6035
xref: ICD10CM:E70.330
xref: MESH:D002609
xref: NCI:C2941
xref: ORDO:167
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3262 ! phagocyte bactericidal dysfunction
is_a: DOID:9006283 ! Syndromic Oculocutaneous Albinism
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases

[Term]
id: DOID:2938
name: Epstein-Barr virus infectious disease
alt_id: DOID:9000509
alt_id: MIM:132850
alt_id: RDO:0007978
def: "A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4. (DO)" [https://en.wikipedia.org/wiki/Epstein%E2%80%93Barr_virus_infection "DO", https://www.cdc.gov/epstein-barr/about-ebv.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK559285/ "DO"]
synonym: "EBV Infection" EXACT []
synonym: "EBV Infections" EXACT []
synonym: "EBVS1" RELATED []
synonym: "Epstein-Barr virus infection" EXACT []
synonym: "Epstein-Barr Virus Infections" EXACT []
synonym: "EPSTEIN-BARR VIRUS INSERTION SITE 1" RELATED []
synonym: "Human Herpes Virus 4 Infections" EXACT []
synonym: "Human Herpesvirus 4 Infections" EXACT []
xref: EFO:0000769
xref: MESH:D020031
xref: NCI:C38759
is_a: DOID:9002834 ! Herpesviridae Infections
is_a: DOID:9004886 ! Tumor Virus Infections
created_by: mtutaj
creation_date: 2023-09-29T09:50:31Z

[Term]
id: DOID:294
name: lacrimal gland cancer
synonym: "malignant neoplasm of lacrimal gland" EXACT []
synonym: "malignant tumour of lacrimal gland" EXACT []
synonym: "neoplasm of lacrimal gland" EXACT []
synonym: "tumor of the lacrimal gland" EXACT []
xref: ICD9CM:190.2
xref: NCI:C3563
xref: NCI:C4360
is_a: DOID:292 ! lacrimal system cancer
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:2942
name: bronchiolitis
def: "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. (DO)" [http://en.wikipedia.org/wiki/Bronchiolitis "DO"]
synonym: "bronchiolitides" EXACT []
xref: MESH:D001988
xref: MONDO:0002465
xref: NCI:C39658
is_a: DOID:6132 ! bronchitis

[Term]
id: DOID:2945
name: severe acute respiratory syndrome
def: "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia. (DO)" [http://en.wikipedia.org/wiki/Severe_acute_respiratory_syndrome "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=SARS "DO"]
synonym: "SARS" EXACT []
synonym: "SARS (Severe Acute Respiratory Syndrome)" EXACT []
synonym: "SARS-CoV infection" EXACT []
xref: EFO:0000694
xref: GARD:9237
xref: ICD10CM:J12.81
xref: ICD9CM:079.82
xref: MESH:D045169
xref: NCI:C85064
is_a: DOID:0080599 ! Coronavirus infectious disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:295
name: eye carcinoma
def: "An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. (DO)" [http://www.cancer.gov/dictionary/?CdrID=444991 "DO"]
synonym: "carcinoma of eye" EXACT []
synonym: "Ocular carcinoma" EXACT []
synonym: "Ocular Sebaceous Carcinoma" NARROW []
xref: EFO:1000405
xref: NCI:C6079
is_a: DOID:2174 ! ocular cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:2951
name: motion sickness
alt_id: MIM:158280
def: "Disorder caused by motion, as sea sickness, train sickness, car sickness, air sickness, or SPACE MOTION SICKNESS. It may include nausea, vomiting and dizziness." [MESH:D009041]
synonym: "Airsickness" EXACT []
synonym: "air sickness" EXACT []
synonym: "Car Sickness" EXACT []
synonym: "Carsickness" EXACT []
synonym: "Sea Sickness" EXACT []
synonym: "seasickness" EXACT []
synonym: "travel sickness" EXACT []
xref: EFO:0006928
xref: ICD10CM:T75.3
xref: ICD9CM:994.6
xref: MESH:D009041
xref: NCI:C34824
is_a: DOID:2952 ! inner ear disease
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:2952
name: inner ear disease
def: "An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium. (DO)" [https://www.merckmanuals.com/professional/ear\,-nose\,-and-throat-disorders/inner-ear-disorders/introduction-to-inner-ear-disorders "DO"]
synonym: "inner ear diseases" EXACT []
synonym: "Labyrinth Disease" EXACT []
synonym: "labyrinth diseases" EXACT []
synonym: "labyrinthine disease" EXACT []
xref: EFO:0009672
xref: ICD10CM:H83.9
xref: MESH:D007759
xref: NCI:C128369
xref: NCI:C27166
is_a: DOID:2742 ! auditory system disease

[Term]
id: DOID:2957
name: pulmonary tuberculosis
def: "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis. (DO)" [http://www.cdc.gov/tb/publications/factsheets/general/tb.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tuberculosis "DO"]
synonym: "Pulmonary Consumption" EXACT []
synonym: "pulmonary consumptions" EXACT []
synonym: "Pulmonary Phthises" EXACT []
synonym: "Pulmonary Phthisis" EXACT []
synonym: "pulmonary tuberculoses" EXACT []
xref: EFO:1000049
xref: ICD10CM:A15
xref: ICD9CM:011
xref: MESH:D014397
xref: NCI:C26899
is_a: DOID:399 ! tuberculosis
is_a: DOID:850 ! lung disease
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:2959
name: hyperimmunoglobulin syndrome
def: "A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. (DO)" [https://ncithesaurus-stage.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27579 "DO"]
xref: NCI:C27579
is_a: DOID:11702 ! dysgammaglobulinemia
is_a: DOID:2115 ! B cell deficiency

[Term]
id: DOID:296
name: mixed lacrimal gland cancer
synonym: "carcinoma ex pleomorphic adenoma of lacrimal gland" EXACT []
synonym: "carcinoma Ex Pleomorphic adenoma of the lacrimal gland" EXACT []
synonym: "malignant mixed neoplasm of lacrimal gland" EXACT []
xref: NCI:C6804
xref: RDO:9002231
is_a: DOID:154 ! mixed cell type cancer
is_a: DOID:294 ! lacrimal gland cancer
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:2960
name: photosensitive trichothiodystrophy
def: "A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight. (DO)" [https://ghr.nlm.nih.gov/condition/trichothiodystrophy "DO", https://pubmed.ncbi.nlm.nih.gov/18603627/ "DO"]
synonym: "IBIDS syndrome" EXACT []
synonym: "photosensitive trichothiodystrophies" EXACT []
synonym: "sulfur-deficient brittle hair syndrome" EXACT []
synonym: "Tay syndrome" EXACT []
synonym: "trichothiodystrophy with congenital ichthyosis" EXACT []
synonym: "trichothiodystrophy with sun sensitivity" EXACT []
synonym: "TTD-P" EXACT []
xref: MESH:C564733
xref: NCI:C4924
is_a: DOID:0111866 ! trichothiodystrophy
is_a: DOID:3159 ! photosensitivity disease
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:2962
name: Cockayne syndrome
alt_id: DOID:9004588
alt_id: DOID:9006765
def: "A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. (DO)" [http://en.wikipedia.org/wiki/Cockayne_syndrome "DO", https://medlineplus.gov/genetics/condition/cockayne-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1342/ "DO"]
synonym: "Cockayne's syndrome" EXACT []
synonym: "Cockayne syndrome type 3" NARROW []
synonym: "Cockayne Syndrome Type C" NARROW []
synonym: "Cockayne syndrome type III" NARROW []
synonym: "Dwarfism-Retinal Atrophy-Deafness Syndrome" EXACT []
synonym: "Group C Cockayne Syndrome" NARROW []
synonym: "Neill-Dingwall syndrome" EXACT []
synonym: "Progeria Like Syndrome" EXACT []
synonym: "Progeria-Like Syndromes" EXACT []
synonym: "progeroid nanism" EXACT []
synonym: "XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME COMPLEX" NARROW []
synonym: "Xeroderma Pigmentosum B / Cockayne Syndrome" NARROW []
synonym: "Xeroderma Pigmentosum G / Cockayne Syndrome" NARROW []
synonym: "XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME" NARROW []
synonym: "xeroderma pigmentosum, type G / Cockayne syndrome" NARROW []
synonym: "XP7 XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME" NARROW []
synonym: "XPG/CS" NARROW []
synonym: "XPG-CS" NARROW []
xref: EFO:0000359
xref: GARD:6122
xref: ICD10CM:Q87.1
xref: MESH:C566879
xref: MESH:C567061
xref: MESH:D003057
xref: MONDO:0008998
xref: MONDO:0016006
xref: NCI:C9460
xref: ORDO:191
xref: ORDO:90321
xref: ORDO:90322
xref: ORDO:90324
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:2964
name: periarthritis
def: "Inflammation of the tissues around a joint. (Dorland, 27th ed)" [MESH:D010489]
synonym: "Periarthritides" EXACT []
xref: EFO:1001097
xref: ICD10CM:M77.9
xref: MESH:D010489
xref: RDO:0006320
is_a: DOID:2965 ! bursitis
is_a: DOID:848 ! arthritis

[Term]
id: DOID:2965
name: bursitis
def: "Inflammation or irritation of a SYNOVIAL BURSA, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." [MESH:D002062]
synonym: "adhesive capsulitides" EXACT []
synonym: "Adhesive Capsulitis" EXACT []
synonym: "Bursitides" EXACT []
synonym: "Capsulitides" EXACT []
synonym: "capsulitis" EXACT []
xref: ICD10CM:M71.9
xref: MESH:D002062
xref: NCI:C94407
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:297
name: pleomorphic adenoma carcinoma
def: "This is a carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." [NCI:C40410]
synonym: "carcinoma ex pleomorphic adenoma" EXACT [SNOMEDCT_2005_07_31:17264009]
synonym: "carcinoma in pleomorphic adenoma" EXACT [SNOMEDCT_2005_07_31:189811003]
synonym: "Parotid Gland Carcinoma ex Pleomorphic Adenoma" NARROW []
synonym: "Salivary Gland Carcinoma ex Pleomorphic Adenoma" EXACT []
synonym: "saliva-secreting gland carcinoma ex pleomorphic adenoma" EXACT []
xref: EFO:1000461
xref: EFO:1000516
xref: NCI:C40410
xref: NCI:C4397
is_a: DOID:8850 ! salivary gland cancer

[Term]
id: DOID:2972
name: renal artery obstruction
def: "Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)." [MESH:D012078]
synonym: "Renal Artery Obstructions" EXACT []
synonym: "Renal Artery Stenoses" EXACT []
synonym: "Renal Artery Stenosis" EXACT []
xref: EFO:1001150
xref: ICD10CM:N28.0
xref: MESH:D012078
is_a: DOID:2388 ! renal artery disease
is_a: DOID:557 ! kidney disease
is_a: DOID:9006474 ! Arterial Occlusive Diseases

[Term]
id: DOID:2973
name: kidney cortex necrosis
def: "A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury. (DO)" [https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys "DO"]
synonym: "glomerular necrosis" EXACT []
synonym: "renal cortical necrosis" EXACT []
synonym: "renal tubule necrosis" EXACT []
xref: EFO:1001003
xref: ICD10CM:N17.1
xref: MESH:D007673
is_a: DOID:0080616 ! kidney cortex disease

[Term]
id: DOID:2975
name: cystic kidney disease
def: "A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC)." [MESH:D052177]
synonym: "Complex Cyst of Kidney" NARROW []
synonym: "cystic kidney" EXACT []
synonym: "cystic kidney diseases" EXACT []
synonym: "Cystic Kidneys" EXACT []
synonym: "Cystic Renal Disease" EXACT []
synonym: "Cystic Renal Diseases" EXACT []
synonym: "KIDNEY CYST" NARROW [MTH:646]
synonym: "renal cyst" NARROW []
synonym: "Simple Cyst of Kidney" NARROW []
xref: EFO:0008615
xref: EFO:0008616
xref: EFO:0008619
xref: EFO:1000313
xref: MESH:D052177
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:2977
name: primary hyperoxaluria
def: "A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones. (DO)" [https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria "DO", https://www.ncbi.nlm.nih.gov/pubmed/27815184 "DO"]
synonym: "primary hyperoxalurias" EXACT []
synonym: "primary oxaloses" EXACT []
synonym: "primary oxalosis" EXACT []
synonym: "primary oxaluria" EXACT []
synonym: "primary oxalurias" EXACT []
xref: ICD10CM:E72.53
xref: ICD10CM:R82.992
xref: MESH:D006960
xref: MIM:PS259900
xref: NCI:C123158
xref: ORDO:416
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:9004912 ! Hyperoxaluria

[Term]
id: DOID:2978
name: carbohydrate metabolic disorder
def: "An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. (DO)" [http://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism "DO"]
synonym: "abnormality of mucopolysaccharide metabolism" NARROW []
synonym: "carbohydrate metabolism, inborn error" EXACT []
synonym: "carbohydrate metabolism, inborn errors" EXACT []
synonym: "disorder of carbohydrate transport and metabolism" EXACT []
synonym: "inborn carbohydrate metabolism disorder" EXACT []
synonym: "inborn errors of carbohydrate metabolism" EXACT []
xref: HP:0011020
xref: MESH:D002239
xref: MONDO:0019214
xref: NCI:C97089
xref: ORDO:79161
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:298
name: lacrimal gland adenocarcinoma
def: "A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of lacrimal gland" EXACT []
xref: NCI:C4541
is_a: DOID:293 ! lacrimal gland carcinoma
is_a: DOID:299 ! adenocarcinoma
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:2981
name: kidney papillary necrosis
def: "A complication of kidney diseases characterized by cell death involving KIDNEY PAPILLA in the KIDNEY MEDULLA. Damages to this area may hinder the kidney to concentrate urine resulting in POLYURIA. Sloughed off necrotic tissue may block KIDNEY PELVIS or URETER. Necrosis of multiple renal papillae can lead to KIDNEY FAILURE." [MESH:D007681]
synonym: "necrotizing renal papillitides" EXACT []
synonym: "necrotizing renal papillitis" EXACT []
synonym: "papillary necrosis" EXACT []
synonym: "renal medullary necrosis" EXACT []
xref: EFO:1001004
xref: MESH:D007681
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:2982
name: perinephritis
def: "Inflammation of the connective and adipose tissues surrounding the KIDNEY." [MESH:D010501]
synonym: "perinephritides" EXACT []
synonym: "perinephrium inflammation" EXACT []
synonym: "perinephrium inflammations" EXACT []
xref: EFO:1001099
xref: MESH:D010501
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:2983
name: anuria
def: "Absence of urine formation. It is usually associated with complete bilateral ureteral (URETER) obstruction, complete lower urinary tract obstruction, or unilateral ureteral obstruction when a solitary kidney is present." [MESH:D001002]
synonym: "anurias" EXACT []
synonym: "suppression of urinary secretion" EXACT []
xref: EFO:0009530
xref: MESH:D001002
xref: NCI:C114699
is_a: DOID:557 ! kidney disease
is_a: DOID:9003919 ! Urination Disorders

[Term]
id: DOID:2986
name: IgA glomerulonephritis
alt_id: MIM:161950
alt_id: MIM:613944
alt_id: MIM:616818
def: "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. (DO)" [http://en.wikipedia.org/wiki/IgA_nephropathy "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000466.htm "DO"]
synonym: "Berger's disease" EXACT []
synonym: "Berger's IgA or IgG nephropathy" EXACT []
synonym: "Berger disease" EXACT []
synonym: "Bergers Disease" EXACT []
synonym: "focal glomerulonephritis" EXACT []
synonym: "Glomerulonephritides, IGA" EXACT []
synonym: "IGAN" EXACT []
synonym: "IGAN1" EXACT []
synonym: "IGAN2" EXACT []
synonym: "IGAN3" EXACT []
synonym: "IGA Nephropathy" EXACT []
synonym: "Iga Nephropathy 1" EXACT []
synonym: "Iga nephropathy, susceptibility to" RELATED []
synonym: "IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1" EXACT []
synonym: "IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2" EXACT []
synonym: "IGA Type Nephritis" EXACT []
synonym: "immunoglobulin A nephropathy" EXACT []
synonym: "primary IgA nephropathy" EXACT []
synonym: "segmental glomerulonephritis" EXACT []
synonym: "susceptibility to IgA nephropathy-3" EXACT []
synonym: "susceptibility to progression to renal failure in IgA nephropathy" RELATED []
xref: EFO:0004194
xref: GARD:863
xref: MESH:D005922
xref: MIM:PS161950
xref: NCI:C34643
xref: NCI:C35280
is_a: DOID:2921 ! glomerulonephritis
is_a: DOID:417 ! autoimmune disease

[Term]
id: DOID:2987
name: familial Mediterranean fever
alt_id: MIM:249100
alt_id: OMIA:001561
def: "An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin. (DO)" [http://en.wikipedia.org/wiki/Familial_Mediterranean_fever "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract "DO"]
synonym: "benign paroxysmal peritonitides" EXACT []
synonym: "benign paroxysmal peritonitis" EXACT []
synonym: "Familial Mediterranean fever, AR" NARROW []
synonym: "Familial Mediterranean Fever, Autosomal Recessive" NARROW []
synonym: "familial paroxysmal polyserositides" EXACT []
synonym: "Familial Paroxysmal Polyserositis" EXACT []
synonym: "FAMILIAL PERIODIC FEVER" EXACT []
synonym: "FMF" EXACT []
synonym: "MEFV-RELATED CONDITION" BROAD []
synonym: "Periodic Disease" EXACT []
synonym: "periodic diseases" EXACT []
synonym: "periodic fever syndrome" EXACT []
synonym: "periodic peritonitides" EXACT []
synonym: "periodic peritonitis" EXACT []
synonym: "recurrent polyserositides" EXACT []
synonym: "recurrent polyserositis" EXACT []
synonym: "Wolff's periodic disease" EXACT []
synonym: "Wolff periodic disease" EXACT []
synonym: "Wolffs periodic disease" EXACT []
xref: GARD:6421
xref: ICD10CM:M04.1
xref: ICD9CM:277.31
xref: MESH:D010505
xref: NCI:C84707
xref: ORDO:342
is_a: DOID:0050739 ! autosomal genetic disease
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases

[Term]
id: DOID:2988
name: antiphospholipid syndrome
def: "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). (DO)" [http://en.wikipedia.org/wiki/Antiphospholipid_syndrome "DO", https://www.genome.gov/Genetic-Disorders/Antiphospholipid-Syndrome "DO"]
synonym: "Anti Phospholipid Antibody Syndrome" EXACT []
synonym: "Antiphospholipid Antibody Syndrome" EXACT []
synonym: "antiphospholipid antibody syndromes" EXACT []
synonym: "anti phospholipid syndrome" EXACT []
synonym: "APS" EXACT []
synonym: "Hughes syndrome" EXACT []
xref: EFO:0002689
xref: GARD:5824
xref: ICD10CM:D68.61
xref: MESH:D016736
xref: NCI:C61283
is_a: DOID:0060051 ! autoimmune disease of cardiovascular system
is_a: DOID:225 ! syndrome

[Term]
id: DOID:299
name: adenocarcinoma
def: "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinomas" EXACT []
synonym: "basal cell adenocarcinoma" EXACT []
synonym: "basal cell adenocarcinomas" EXACT []
synonym: "cribriform carcinoma" EXACT []
synonym: "cribriform carcinomas" EXACT []
synonym: "oxyphilic adenocarcinoma" EXACT []
synonym: "oxyphilic adenocarcinomas" EXACT []
xref: EFO:0000228
xref: ICDO:8140/3
xref: MESH:D000230
xref: NCI:C2852
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:2992
name: prostate neuroendocrine neoplasm
synonym: "neuroendocrine tumor of the prostate" EXACT []
xref: NCI:C5545
xref: RDO:9001824
is_a: DOID:10283 ! prostate cancer
is_a: DOID:169 ! neuroendocrine tumor
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:2994
name: germ cell cancer
def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [http://en.wikipedia.org/wiki/Germ_cell_tumor "DO"]
synonym: "germ cell cancers" EXACT []
synonym: "malignant tumor of the germ cell" EXACT []
xref: EFO:0000514
xref: EFO:1000352
xref: NCI:C3708
is_a: DOID:0050687 ! cell type cancer
is_a: DOID:9005959 ! Gonadal Tissue Neoplasms
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:2996
name: mixed germ cell-sex cord neoplasm
synonym: "mixed germ cell-sex cord-stromal tumor" EXACT []
synonym: "mixed germ cell-sex cord tumor" EXACT []
xref: NCI:C5241
is_a: DOID:154 ! mixed cell type cancer

[Term]
id: DOID:2997
name: Sertoli-Leydig cell tumor
alt_id: DOID:9000202
alt_id: MESH:C537588
def: "A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles. (DO)" [https://en.wikipedia.org/wiki/Sertoli–Leydig_cell_tumour "DO"]
synonym: "Androblastoma" EXACT []
synonym: "Androblastoma of Ovary" NARROW []
synonym: "Androblastomas" EXACT []
synonym: "Arrhenoblastoma" EXACT []
synonym: "Arrhenoblastomas" EXACT []
synonym: "Ovarian Sertoli-Leydig Cell Tumor" NARROW []
synonym: "Sertoli-leydig cell tumor of the ovary" NARROW []
synonym: "Sertoli-Leydig cell tumors" EXACT []
xref: EFO:1000429
xref: GARD:9967
xref: MESH:D018310
is_a: DOID:192 ! sex cord-gonadal stromal tumor

[Term]
id: DOID:2998
name: testicular cancer
def: "A male reproductive system cancer that is located_in the testicles. (DO)" [http://www.cancer.gov/dictionary?CdrID=445090 "DO"]
synonym: "cancer of testis" EXACT []
synonym: "cancer of the testes" EXACT []
synonym: "childhood neoplasm of the testis" EXACT []
synonym: "malignant tumor of testis" EXACT []
synonym: "pediatric testicular neoplasm" EXACT []
synonym: "testicular cancers" EXACT []
synonym: "testicular tumor" EXACT []
synonym: "testis cancer" EXACT []
synonym: "testis cancers" EXACT []
xref: EFO:0004281
xref: EFO:0005088
xref: GARD:7746
xref: ICD10CM:C62
xref: ICD9CM:186
xref: NCI:C3404
xref: NCI:C5053
xref: NCI:C7251
is_a: DOID:170 ! endocrine gland cancer
is_a: DOID:3856 ! male reproductive organ cancer
is_a: DOID:9004207 ! Testicular Neoplasms
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:2999
name: granulosa cell tumor
def: "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma. (DO)" [https://en.wikipedia.org/wiki/Granulosa_cell_tumour "DO"]
synonym: "Cancer of Granulosa Cells" EXACT []
synonym: "Granulosa Cell Cancer" EXACT []
synonym: "Granulosa Cell Cancers" EXACT []
synonym: "granulosa cell neoplasm" EXACT []
synonym: "Granulosa Cells Cancer" EXACT []
synonym: "Granulosa Cells Cancers" EXACT []
synonym: "granulosa cell tumor, adult type" EXACT []
synonym: "Granulosa Cell Tumors" EXACT []
synonym: "Granulosa cell tumor, somatic" EXACT []
synonym: "granulosa cell tumour, sarcomatoid" EXACT []
synonym: "malignant granulosa cell neoplasm" EXACT []
xref: EFO:1000032
xref: MESH:D006106
xref: NCI:C24000
xref: NCI:C3070
xref: NCI:C4205
is_a: DOID:192 ! sex cord-gonadal stromal tumor
is_a: DOID:2394 ! ovarian cancer

[Term]
id: DOID:3001
name: female reproductive endometrioid cancer
def: "A female reproductive organ cancer that is characterized by a resemblance to endometrium. (DO)" [https://en.wikipedia.org/wiki/Endometrioid_tumor "DO"]
synonym: "endometrioid neoplasm" EXACT []
synonym: "endometrioid tumor" EXACT [SNOMEDCT_2005_07_31:253013001]
synonym: "endometrioid tumor (morphologic abnormality)" EXACT []
synonym: "female reproductive endometrioid neoplasm" RELATED []
xref: EFO:0009118
xref: NCI:C7113
xref: RDO:9002285
is_a: DOID:120 ! female reproductive organ cancer
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:3002
name: ovary neuroendocrine neoplasm
def: "An ovarian cancer that has_material_basis_in nuroendocrine cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26976990 "DO"]
synonym: "neuroendocrine tumor of ovary" EXACT []
xref: NCI:C5237
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:2394 ! ovarian cancer
is_a: DOID:9002762 ! Ovarian Neoplasms
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:3003
name: nipple benign neoplasm
def: "A breast benign neoplasm that is located_in the nipple. (DO)" [https://en.wikipedia.org/wiki/Nipple_adenoma "DO"]
synonym: "tumor of nipple" EXACT []
xref: NCI:C5212
is_a: DOID:0060082 ! breast benign neoplasm

[Term]
id: DOID:3004
name: breast myoepithelial neoplasm
def: "A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439666/ "DO"]
xref: NCI:C40389
xref: RDO:9001790
is_a: DOID:1612 ! breast cancer
is_a: DOID:9008939 ! Breast Neoplasms
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:3007
name: breast ductal carcinoma
def: "A breast carcinoma that derives_from the lining of milk ducts. (DO)" [http://cancergenome.nih.gov/cancersselected/breastductal "DO", http://www.cancer.gov/dictionary?CdrID=45085 "DO"]
synonym: "ductal breast carcinoma" EXACT []
synonym: "duct carcinoma" EXACT []
xref: EFO:0000430
xref: EFO:0000431
xref: EFO:0006318
is_a: DOID:3459 ! breast carcinoma
is_a: DOID:9008138 ! Ductal Carcinoma

[Term]
id: DOID:3008
name: invasive ductal carcinoma
def: "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated. (DO)" [https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25343550 "DO"]
synonym: "ductal adenocarcinoma" EXACT []
synonym: "infiltrating ductal carcinoma of breast" EXACT []
synonym: "infiltrating duct carcinoma" EXACT []
synonym: "infiltrating duct carcinoma of breast" EXACT []
synonym: "infiltrating duct carcinomas" EXACT []
synonym: "invasive breast ductal and lobular carcinoma" NARROW []
synonym: "invasive breast ductal carcinoma" EXACT []
synonym: "invasive ductal breast cancer" EXACT []
synonym: "invasive ductal carcinoma, not otherwise specified" EXACT []
synonym: "invasive ductal carcinoma, NST" EXACT []
synonym: "mammary ductal carcinoma" EXACT []
synonym: "mammary ductal carcinomas" EXACT []
xref: EFO:0000184
xref: EFO:0000186
xref: EFO:0000552
xref: MESH:D018270
xref: NCI:C4017
xref: NCI:C4194
is_a: DOID:3007 ! breast ductal carcinoma

[Term]
id: DOID:3009
name: breast neuroendocrine neoplasm
def: "A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/neuroendocrine-tumor "DO"]
synonym: "neuroendocrine tumor of the breast" EXACT []
xref: NCI:C5169
xref: RDO:9001791
is_a: DOID:0060082 ! breast benign neoplasm
is_a: DOID:169 ! neuroendocrine tumor
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:3010
name: lobular neoplasia
def: "A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/lobular-neoplasia "DO"]
synonym: "Atypical Lobular Breast Hyperplasia" NARROW []
synonym: "LCIS, lobular carcinoma in situ" EXACT []
synonym: "Lobular Breast Carcinoma In Situ" EXACT []
synonym: "lobular carcinoma in situ" EXACT []
synonym: "lobular intraepithelial neoplasia" EXACT []
xref: EFO:1000100
xref: EFO:1000326
xref: NCI:C27939
is_a: DOID:8791 ! breast carcinoma in situ

[Term]
id: DOID:3011
name: breast granular cell tumor
def: "A breast cancer that is believed to arises_from Schwann cells. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/granular-cell-tumor "DO"]
xref: NCI:C40400
xref: RDO:9001792
is_a: DOID:1612 ! breast cancer
is_a: DOID:2411 ! granular cell tumor
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:3012
name: Li-Fraumeni syndrome
def: "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. (DO)" [http://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome "DO", http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome "DO", https://www.lfsassociation.org/what-is-lfs/ "DO"]
synonym: "LFS" EXACT []
synonym: "Li-Fraumeni familiar cancer susceptibility syndrome" EXACT []
synonym: "sarcoma, breast, leukaemia and adrenal gland syndrome" EXACT []
synonym: "sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome" EXACT []
synonym: "sarcoma family syndrome of Li and Fraumeni" EXACT []
synonym: "SBLA syndrome" EXACT []
xref: EFO:0004797
xref: GARD:6902
xref: MESH:D016864
xref: MIM:PS151623
xref: MONDO:0018875
xref: NCI:C3476
xref: ORDO:524
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders

[Term]
id: DOID:3013
name: intraductal breast benign neoplasm
def: "A breast benign neoplasm that is located_in the breast ducts. (DO)" [https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/23025963 "DO"]
xref: NCI:C36083
is_a: DOID:0060082 ! breast benign neoplasm
is_a: DOID:9008490 ! Ductal, Lobular, and Medullary Neoplasms

[Term]
id: DOID:3016
name: breast malignant phyllodes tumor
def: "A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s). (DO)" [https://www.sciencedirect.com/science/article/pii/S2214330016300256 "DO"]
synonym: "breast malignant phyllodes tumour" EXACT []
synonym: "malignant cystosarcoma phyllodes" EXACT [SNOMEDCT_2005_07_31:189826001]
synonym: "malignant mammary phyllodes tumor" EXACT [NCI2004_11_17:C4504]
synonym: "malignant Mammary Phyllodes tumour" EXACT []
synonym: "malignant phyllodes neoplasm" EXACT [NCI2004_11_17:C4275]
synonym: "malignant phyllodes tumor" EXACT [SNOMEDCT_2005_07_31:87913009]
synonym: "malignant phyllodes tumor of breast" EXACT [SNOMEDCT_2005_07_31:254844000]
synonym: "malignant phyllodes tumour" EXACT []
synonym: "malignant phyllodes tumour of breast" EXACT []
synonym: "Phyllodes breast neoplasm" EXACT [NCI2004_11_17:C7575]
synonym: "phyllodes breast tumor" EXACT []
synonym: "phyllodes breast tumour" EXACT []
xref: EFO:0008545
xref: NCI:C4275
xref: NCI:C4504
xref: NCI:C7575
xref: RDO:9003817
is_a: DOID:1612 ! breast cancer
is_a: DOID:9004240 ! Phyllodes Tumor
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3017
name: breast sarcoma
def: "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. (DO)" [http://en.wikipedia.org/wiki/Sarcoma "DO"]
synonym: "sarcoma of breast" EXACT []
xref: NCI:C4670
is_a: DOID:1115 ! sarcoma
is_a: DOID:1612 ! breast cancer
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:302
name: substance abuse
def: "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. (DO)" [http://allpsych.com/disorders/substance/substanceabuse.html "DO", http://en.wikipedia.org/wiki/Substance_abuse "DO"]
synonym: "drug misuse" BROAD []
synonym: "substance abuses" EXACT []
xref: EFO:0011049
xref: MONDO:0002491
xref: NCI:C16522
is_a: DOID:303 ! substance-related disorder
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:3021
name: acute kidney failure
def: "Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions." [MESH:D058186]
synonym: "Acute Kidney Failures" EXACT []
synonym: "Acute Kidney Injuries" EXACT []
synonym: "Acute Kidney Injury" EXACT []
synonym: "Acute Kidney Insufficiencies" EXACT []
synonym: "Acute Kidney Insufficiency" EXACT []
synonym: "Acute Renal Failure" EXACT []
synonym: "Acute Renal Failures" EXACT []
synonym: "Acute Renal Injuries" EXACT []
synonym: "Acute Renal Injury" EXACT []
synonym: "Acute Renal Insufficiencies" EXACT []
synonym: "Acute Renal Insufficiency" EXACT []
synonym: "post-operative acute kidney injury" NARROW []
synonym: "postoperative acute kidney injury" NARROW []
xref: EFO:0009955
xref: MESH:D058186
xref: RDO:0001702
is_a: DOID:1074 ! kidney failure

[Term]
id: DOID:3024
name: prostatic acinar adenocarcinoma
def: "This is an invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants." [NCI:C5596]
synonym: "Acinar Prostate Adenocarcinoma, Foamy Gland Variant" NARROW []
synonym: "Prostate Acinar Adenocarcinoma, Lymphoepithelioma-Like Variant" NARROW []
xref: EFO:1000064
xref: NCI:C5596
is_a: DOID:2526 ! prostate adenocarcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:3025
name: acinar cell carcinoma
def: "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15215543/ "DO"]
synonym: "acinar carcinoma" EXACT []
synonym: "acinar carcinomas" EXACT []
synonym: "Acinar Cell Adenocarcinoma" EXACT []
synonym: "Acinar Cell Adenocarcinomas" EXACT []
synonym: "Acinar Cell Carcinomas" EXACT []
synonym: "Acinic Cell Adenocarcinoma" EXACT []
synonym: "Acinic Cell Adenocarcinomas" EXACT []
synonym: "Acinic Cell Carcinoma" EXACT []
synonym: "Acinic Cell Carcinomas" EXACT []
synonym: "Acinic Cell Tumor" EXACT []
synonym: "acinic cell tumors" EXACT []
synonym: "Parotid Gland Acinic Cell Carcinoma" NARROW []
synonym: "Salivary Gland Acinic Cell Carcinoma" NARROW []
synonym: "serous acinar adenoma" EXACT []
xref: EFO:0000216
xref: EFO:1000458
xref: EFO:1000513
xref: GARD:8568
xref: ICDO:8550/3
xref: MESH:D018267
xref: NCI:C3768
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:60004 ! malignant cystadenoma

[Term]
id: DOID:3029
name: colon mucinous adenocarcinoma
synonym: "colonic mucinous adenocarcinoma" EXACT []
xref: EFO:0000364
xref: NCI:C7966
xref: RDO:9004069
is_a: DOID:234 ! colon adenocarcinoma
is_a: DOID:3030 ! mucinous adenocarcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:303
name: substance-related disorder
alt_id: MIM:606581
def: "A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. (DO)" [https://www.psychologytoday.com/us/conditions/substance-related-disorders "DO"]
synonym: "Dopamine receptor d2, reduced brain density of" RELATED []
synonym: "organic mental disorders, substance induced" EXACT []
synonym: "polysubstance abuse, susceptibility to" EXACT []
synonym: "PSAB" EXACT []
synonym: "psychiatric toxicity" BROAD []
synonym: "substance addiction" EXACT []
synonym: "substance-related disorders" EXACT []
synonym: "substance use disorder" EXACT []
synonym: "substance use disorders" EXACT []
xref: EFO:0011059
xref: MESH:D019966
xref: MONDO:0002494
xref: NCI:C92203
is_a: DOID:150 ! disease of mental health
is_a: DOID:9008261 ! Chemically-Induced Disorders

[Term]
id: DOID:3030
name: mucinous adenocarcinoma
def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. (DO)" [http://coloncancer.about.com/od/typesofcancer/a/Mucinous_Tumor.htm "DO", http://medical-dictionary.thefreedictionary.com/mucinous+carcinoma "DO"]
synonym: "Colloid Carcinoma" EXACT []
synonym: "colloid carcinomas" EXACT []
synonym: "Mucinous Adenocarcinomas" EXACT []
synonym: "Mucinous Carcinoma" EXACT []
synonym: "mucinous carcinomas" EXACT []
synonym: "mucin-producing adenocarcinoma" EXACT []
synonym: "mucin-secreting adenocarcinoma" EXACT []
synonym: "mucin-secreting carcinoma" EXACT []
synonym: "mucous carcinoma" EXACT []
synonym: "pseudomyxoma peritonei with unknown primary site" EXACT []
xref: EFO:0000197
xref: EFO:1000387
xref: ICDO:8480/3
xref: MESH:D002288
xref: NCI:C26712
xref: NCI:C27379
xref: NCI:C27825
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms

[Term]
id: DOID:3033
name: colon signet ring adenocarcinoma
synonym: "Colonic Signet Ring adenocarcinoma" EXACT [NCI2004_11_17:C7967]
xref: RDO:9004262
is_a: DOID:234 ! colon adenocarcinoma
is_a: DOID:3493 ! signet ring cell adenocarcinoma
is_a: DOID:9006678 ! Somatic Colonic Adenocarcinoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3038
name: submucosal invasive colon adenocarcinoma
xref: NCI:C38760
xref: RDO:9004263
is_a: DOID:234 ! colon adenocarcinoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3039
name: cecum adenocarcinoma
def: "A cecum carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of cecum" RELATED []
synonym: "Cecal adenocarcinoma" EXACT [NCI2004_11_17:C5543]
xref: EFO:1000020
xref: EFO:1000153
xref: NCI:C5543
xref: RDO:9004284
is_a: DOID:0050913 ! large intestine adenocarcinoma
is_a: DOID:1519 ! cecum carcinoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3042
name: allergic contact dermatitis
def: "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. (DO)" [http://en.wikipedia.org/wiki/Allergic_contact_dermatitis "DO"]
synonym: "Allergic Contact Dermatitides" EXACT []
synonym: "Allergic Eczematous Dermatitides" EXACT []
synonym: "Allergic Eczematous Dermatitis" EXACT []
xref: EFO:1000668
xref: ICD10CM:L23
xref: ICD10CM:L23.9
xref: MESH:D017449
xref: NCI:C26998
is_a: DOID:2773 ! contact dermatitis
is_a: DOID:9002605 ! Delayed Hypersensitivity

[Term]
id: DOID:3044
name: food allergy
def: "A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. (DO)" [http://www.niaid.nih.gov/topics/foodAllergy/understanding/Pages/whatIsIt.aspx "DO"]
synonym: "food allergies" EXACT []
synonym: "food hypersensitivity" EXACT []
xref: EFO:1001890
xref: MESH:D005512
xref: NCI:C172304
is_a: DOID:0060502 ! gastrointestinal allergy
is_a: DOID:9002850 ! Immediate Hypersensitivity

[Term]
id: DOID:3047
name: Wissler-Fanconi syndrome
def: "A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease. (DO)" [http://en.wikipedia.org/wiki/Wissler%27s_syndrome "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5098720/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/8150635 "DO"]
synonym: "subsepsis allergica" EXACT []
synonym: "subsepsis hyperergica" EXACT []
synonym: "Wissler's subsepsis allergica" EXACT []
synonym: "Wissler's syndrome" EXACT []
synonym: "Wisslers syndrome" EXACT []
synonym: "Wissler syndrome" EXACT []
xref: EFO:0007547
xref: MESH:D014924
is_a: DOID:1205 ! allergic disease
is_a: DOID:1586 ! rheumatic fever
is_a: DOID:225 ! syndrome

[Term]
id: DOID:3049
name: Churg-Strauss syndrome
def: "A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. (DO)" [http://www.hopkinsvasculitis.org/types-vasculitis/churgstrauss-syndrome-css/ "DO", http://www.mayoclinic.com/health/churg-strauss-syndrome/DS00855 "DO"]
synonym: "allergic angiitides" EXACT []
synonym: "Allergic Angiitis" EXACT []
synonym: "Allergic Angiitis and Granulomatosis" EXACT []
synonym: "Allergic Granulomatoses" EXACT []
synonym: "Allergic Granulomatosis" EXACT []
synonym: "allergic granulomatosis angiitis" EXACT []
synonym: "Allergic Granulomatous and Angiitis" EXACT []
synonym: "Allergic Granulomatous Angiitides" EXACT []
synonym: "Allergic Granulomatous Angiitis" EXACT []
synonym: "Churg-Strauss Vasculitis" EXACT []
synonym: "Eosinophilic Granulomatous Vasculitides" EXACT []
synonym: "eosinophilic granulomatous vasculitis" EXACT []
xref: EFO:0007208
xref: ICD10CM:M30.1
xref: MESH:D015267
xref: NCI:C34481
is_a: DOID:9002019 ! Granuloma
is_a: DOID:9003819 ! Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis

[Term]
id: DOID:305
name: carcinoma
def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "anaplastic carcinoma" EXACT []
synonym: "anaplastic carcinomas" EXACT []
synonym: "Carcinomas" EXACT []
synonym: "Carcinomatoses" EXACT []
synonym: "Carcinomatosis" EXACT []
synonym: "epithelial cancer" EXACT []
synonym: "Epithelioma" EXACT []
synonym: "Epitheliomas" EXACT []
synonym: "Malignant Epithelial Neoplasm" EXACT []
synonym: "Malignant Epithelial Neoplasms" EXACT []
synonym: "Malignant Epithelial Tumor" EXACT []
synonym: "Malignant Epithelial Tumors" EXACT []
synonym: "malignant epithelioma" EXACT []
synonym: "undifferentiated carcinoma" EXACT []
synonym: "undifferentiated carcinomas" EXACT []
xref: EFO:0000313
xref: EFO:0006772
xref: ICDO:8010/3
xref: MESH:D002277
xref: NCI:C2916
xref: NCI:C3709
is_a: DOID:0050687 ! cell type cancer
is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms

[Term]
id: DOID:3052
name: Balkan nephropathy
alt_id: MIM:124100
def: "An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. (DO)" [http://en.wikipedia.org/wiki/Danubian_endemic_familial_nephropathy "DO"]
synonym: "Balkan Endemic Nephropathy" EXACT []
synonym: "Danubian Endemic Familial Nephropathy" EXACT []
synonym: "DEFN" EXACT []
synonym: "nephropathia epidemica" EXACT []
xref: EFO:0007164
xref: ICD10CM:N15.0
xref: MESH:D001449
is_a: DOID:1063 ! interstitial nephritis

[Term]
id: DOID:3055
name: paratyphoid fever
def: "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly. (DO)" [http://en.wikipedia.org/wiki/Paratyphoid_fever "DO"]
synonym: "paratyphoid" EXACT []
synonym: "paratyphoid a" EXACT []
synonym: "paratyphoid b" EXACT []
synonym: "paratyphoid c" EXACT []
synonym: "paratyphoid fever A" EXACT []
synonym: "paratyphoid fever B" EXACT []
synonym: "paratyphoid fever C" EXACT []
synonym: "Paratyphoid Fevers" EXACT []
xref: EFO:0007420
xref: ICD10CM:A01.1
xref: ICD10CM:A01.2
xref: ICD10CM:A01.3
xref: ICD10CM:A01.4
xref: ICD9CM:002.1
xref: ICD9CM:002.2
xref: ICD9CM:002.3
xref: ICD9CM:002.9
xref: MESH:D010284
xref: NCI:C34894
xref: NCI:C34895
xref: NCI:C34896
xref: NCI:C34897
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:0060859 ! salmonellosis

[Term]
id: DOID:3068
name: glioblastoma
def: "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes. (DO)" [http://cancergenome.nih.gov/cancersselected/glioblastomamultiforme "DO", http://en.wikipedia.org/wiki/Glioblastoma_multiforme "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"]
synonym: "adult glioblastoma multiforme" EXACT []
synonym: "GBM" EXACT []
synonym: "glioblastoma multiforme" EXACT []
synonym: "glioblastoma multiforme, somatic" NARROW []
synonym: "glioblastomas" EXACT []
synonym: "glioblastoma, somatic" NARROW []
synonym: "grade IV adult astrocytic tumor" EXACT []
synonym: "grade IV astrocytoma" EXACT []
synonym: "grade IV astrocytomas" EXACT []
synonym: "primary glioblastoma multiforme" EXACT []
synonym: "spongioblastoma multiforme" EXACT []
xref: EFO:0000519
xref: GARD:2491
xref: ICDO:9440/3
xref: MESH:D005909
xref: NCI:C129295
xref: NCI:C21938
xref: NCI:C3058
xref: NCI:C9094
is_a: DOID:3069 ! malignant astrocytoma

[Term]
id: DOID:3069
name: malignant astrocytoma
def: "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord. (DO)" [http://en.wikipedia.org/wiki/Astrocytoma "DO", http://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors "DO"]
synonym: "anaplastic oligoastrocytoma" NARROW []
synonym: "astrocytic brain tumor" NARROW []
synonym: "astrocytic glioma" EXACT []
synonym: "astrocytic gliomas" EXACT []
synonym: "astrocytic tumor" EXACT []
synonym: "astrocytoma" EXACT []
synonym: "astrocytoma, no ICD-O subtype" EXACT []
synonym: "astrocytoma of brain" NARROW []
synonym: "astrocytoma of cerebrum" NARROW []
synonym: "astrocytomas" EXACT []
synonym: "astroglioma" EXACT []
synonym: "astrogliomas" EXACT []
synonym: "cerebral astrocytoma" NARROW []
synonym: "cerebral astrocytomas" NARROW []
synonym: "Childhood Cerebral Astrocytoma" NARROW []
synonym: "childhood cerebral astrocytomas" NARROW []
synonym: "grade I astrocytoma" NARROW []
synonym: "grade I astrocytomas" NARROW []
synonym: "grade II astrocytoma" NARROW []
synonym: "grade II astrocytomas" NARROW []
synonym: "intracranial astrocytoma" NARROW []
synonym: "intracranial astrocytomas" NARROW []
synonym: "mixed oligoastrocytoma" NARROW []
synonym: "mixed oligoastrocytomas" NARROW []
xref: EFO:0000271
xref: EFO:0000272
xref: EFO:0002500
xref: MESH:D001254
xref: MONDO:0021636
xref: NCI:C4951
xref: NCI:C60436
xref: NCI:C60781
xref: NCI:C6958
is_a: DOID:3070 ! high grade glioma
is_a: DOID:368 ! cerebrum cancer

[Term]
id: DOID:3070
name: high grade glioma
alt_id: MIM:137800
alt_id: MIM:607248
alt_id: MIM:613028
alt_id: MIM:613029
alt_id: MIM:613030
alt_id: MIM:613031
alt_id: MIM:613032
alt_id: MIM:613033
alt_id: MIM:616568
def: "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine. (DO)" [http://en.wikipedia.org/wiki/Malignant_glioma "DO"]
synonym: "ASTROCYTOMA" NARROW []
synonym: "BRAINSTEM GLIOMA" NARROW []
synonym: "EPENDYMOMA" NARROW []
synonym: "glial cell tumor" EXACT []
synonym: "glial cell tumors" EXACT []
synonym: "glioma" EXACT []
synonym: "gliomas" EXACT []
synonym: "glioma susceptibility 1" RELATED []
synonym: "glioma susceptibility 2" RELATED []
synonym: "glioma susceptibility 3" RELATED []
synonym: "glioma susceptibility 4" RELATED []
synonym: "glioma susceptibility 5" RELATED []
synonym: "glioma susceptibility 6" RELATED []
synonym: "glioma susceptibility 7" RELATED []
synonym: "glioma susceptibility 8" RELATED []
synonym: "glioma susceptibility 9" RELATED []
synonym: "GLM" BROAD []
synonym: "GLM1" RELATED []
synonym: "GLM2" RELATED []
synonym: "GLM3" RELATED []
synonym: "GLM4" RELATED []
synonym: "GLM5" RELATED []
synonym: "GLM6" RELATED []
synonym: "GLM7" RELATED []
synonym: "GLM8" RELATED []
synonym: "GLM9" RELATED []
synonym: "malignant glioma" EXACT []
synonym: "malignant gliomas" EXACT []
synonym: "malignant neuroglial tumor" EXACT []
synonym: "neuroglial tumor" EXACT []
synonym: "oligodendroglioma" NARROW []
synonym: "rosette-forming glioneuronal tumor" NARROW []
synonym: "subependymoma" NARROW []
xref: EFO:0000520
xref: EFO:0005543
xref: ICDO:9380/3
xref: MESH:D005910
xref: MIM:PS137800
xref: NCI:C129297
xref: NCI:C3059
xref: NCI:C4822
xref: NCI:C64069
xref: ORDO:182067
is_a: DOID:0050687 ! cell type cancer
is_a: DOID:0060564 ! spinal disease
is_a: DOID:1319 ! brain cancer
is_a: DOID:184 ! bone cancer

[Term]
id: DOID:3071
name: gliosarcoma
def: "A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation. (DO)" [https://en.wikipedia.org/wiki/Gliosarcoma "DO", https://www.cancer.gov/rare-brain-spine-tumor/tumors/gliosarcoma "DO"]
synonym: "Glioblastoma with Sarcomatous Component" EXACT []
synonym: "Gliosarcomas" EXACT []
synonym: "Sarcomatous Glioma" EXACT []
synonym: "Sarcomatous Gliomas" EXACT []
xref: EFO:1001465
xref: GARD:5653
xref: ICDO:9442/3
xref: MESH:D018316
xref: NCI:C3796
is_a: DOID:3068 ! glioblastoma

[Term]
id: DOID:3073
name: brain glioblastoma multiforme
def: "A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems. (DO)" [https://en.wikipedia.org/wiki/Glioblastoma "DO"]
synonym: "brain glioblastoma" EXACT []
synonym: "glioblastoma multiforme of brain" EXACT []
xref: EFO:0000515
xref: EFO:0006545
xref: NCI:C4642
is_a: DOID:0060108 ! brain glioma
is_a: DOID:3068 ! glioblastoma
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:3074
name: giant cell glioblastoma
def: "A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells. (DO)" [http://en.wikipedia.org/wiki/Giant-cell_glioblastoma "DO", http://neuro-oncology.oxfordjournals.org/content/11/6/833.full "DO"]
synonym: "giant cell glioblastomas" EXACT []
synonym: "monstrocellular sarcoma" EXACT []
xref: ICDO:9441/3
xref: NCI:C4325
is_a: DOID:3068 ! glioblastoma
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:3076
name: adult astrocytic tumor
def: "A malignant astrocytoma that occurs during adulthood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7049 "DO"]
synonym: "adult astrocytic tumour" EXACT []
synonym: "adult astrocytoma" EXACT []
xref: NCI:C7049
is_a: DOID:3069 ! malignant astrocytoma

[Term]
id: DOID:3078
name: anaplastic astrocytoma
def: "A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei. (DO)" [http://en.wikipedia.org/wiki/Anaplastic_astrocytoma "DO", http://www.cancer.gov/dictionary?CdrID=45591 "DO"]
synonym: "anaplastic astrocytomas" EXACT []
synonym: "grade III astrocytic tumor" EXACT []
synonym: "grade III astrocytoma" EXACT []
synonym: "grade III astrocytomas" EXACT []
xref: EFO:0002499
xref: GARD:5860
xref: MONDO:0016684
xref: NCI:C129292
xref: NCI:C9477
xref: ORDO:251589
is_a: DOID:3069 ! malignant astrocytoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:3079
name: childhood astrocytic tumor
synonym: "juvenile astrocytoma" EXACT []
synonym: "pediatric astrocytoma" EXACT []
xref: NCI:C9022
is_a: DOID:3069 ! malignant astrocytoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:308
name: early myoclonic encephalopathy
synonym: "benign infantile myoclonic epilepsy" EXACT []
synonym: "Early Childhood Epilepsy, Myoclonic" EXACT []
synonym: "Epilepsy, generalized myoclonic, with photosensitivity" NARROW []
synonym: "Epileptic seizures, myoclonic" EXACT []
synonym: "Infantile Myoclonic Epilepsies" EXACT []
synonym: "Infantile Myoclonic Epilepsy" EXACT []
synonym: "Infantile Severe Myoclonic Epilepsy" EXACT []
is_a: DOID:0050702 ! neonatal period electroclinical syndrome
is_a: DOID:9005154 ! Myoclonic Epilepsies
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3081
name: cystic lymphangioma
def: "A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin." [MESH:D018191]
synonym: "Cystic Hygroma" EXACT []
synonym: "Cystic Hygroma Colli" EXACT []
synonym: "Cystic Hygromas" EXACT []
synonym: "Cystic Lymphangiomas" EXACT []
synonym: "Hygroma" EXACT []
synonym: "Hygromas" EXACT []
xref: EFO:1000888
xref: GARD:6234
xref: ICDO:9173/0
xref: MESH:D018191
xref: MONDO:0009761
xref: NCI:C3724
xref: ORDO:79486
is_a: DOID:1475 ! lymphangioma

[Term]
id: DOID:3082
name: interstitial lung disease
def: "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215823/ "DO"]
synonym: "alveolitis" EXACT []
synonym: "diffuse parenchymal lung diseases" EXACT []
synonym: "ILD" EXACT []
synonym: "interstitial lung diseases" EXACT []
synonym: "interstitial pneumonia" EXACT []
synonym: "interstitial pneumonias" EXACT []
synonym: "interstitial pneumonitides" EXACT []
synonym: "interstitial pneumonitis" EXACT []
synonym: "pulmonary alveolitis" EXACT []
xref: EFO:0004244
xref: EFO:0009624
xref: GARD:13336
xref: ICD10CM:J84.9
xref: MESH:D017563
xref: MIM:PS619611
xref: NCI:C164315
is_a: DOID:65 ! connective tissue disease
is_a: DOID:850 ! lung disease

[Term]
id: DOID:3083
name: chronic obstructive pulmonary disease
alt_id: DOID:9005540
alt_id: MIM:606963
def: "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28513453/ "DO", https://pubmed.ncbi.nlm.nih.gov/32745458/ "DO", https://pubmed.ncbi.nlm.nih.gov/32800196/ "DO", https://www.nhlbi.nih.gov/health-topics/copd "DO"]
synonym: "ANTICHYMOTRYPSIN BONN 1" RELATED []
synonym: "Chronic Airflow Obstruction" EXACT []
synonym: "Chronic Airflow Obstructions" EXACT []
synonym: "Chronic Obstructive Airway Disease" EXACT []
synonym: "Chronic Obstructive Lung Disease" EXACT []
synonym: "CHRONIC OBSTRUCTIVE PULMONARY DISEASE, BIOMASS RELATED" NARROW []
synonym: "Chronic Obstructive Pulmonary Disease, Severe Early-Onset" NARROW []
synonym: "chronic obstructive pulmonary disease, susceptibility to" RELATED []
synonym: "COAD" EXACT []
synonym: "COLD" EXACT []
synonym: "COPD" EXACT []
synonym: "COPD, severe early-onset" NARROW []
synonym: "HMOX1-RELATED CONDITION" RELATED []
synonym: "PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN" NARROW []
xref: EFO:0000341
xref: ICD10CM:J44.9
xref: MESH:C564641
xref: MESH:D029424
xref: NCI:C3199
is_a: DOID:2320 ! obstructive lung disease

[Term]
id: DOID:3086
name: gingival overgrowth
def: "Excessive growth of the gingiva either by an increase in the size of the constituent cells (GINGIVAL HYPERTROPHY) or by an increase in their number (GINGIVAL HYPERPLASIA). (From Jablonski's Dictionary of Dentistry, 1992, p574)" [MESH:D019214]
synonym: "gingival enlargement" EXACT []
synonym: "gingival overgrowths" EXACT []
xref: ICD10CM:K06.1
xref: MESH:D019214
is_a: DOID:1483 ! gingival disease

[Term]
id: DOID:3087
name: gingivitis
def: "Inflammation of gum tissue (GINGIVA) without loss of connective tissue." [MESH:D005891]
synonym: "acute gingivitis" EXACT []
synonym: "chronic gingivitis" EXACT []
synonym: "Gingivitides" EXACT []
xref: ICD10CM:K05.0
xref: ICD10CM:K05.1
xref: ICD10CM:K05.10
xref: ICD9CM:523.0
xref: ICD9CM:523.1
xref: MESH:D005891
xref: NCI:C34474
xref: NCI:C34636
is_a: DOID:1483 ! gingival disease

[Term]
id: DOID:3089
name: granulomatous orchitis
synonym: "Non-Specific Granulomatous Orchitis" EXACT [NCI2004_11_17:C27162]
xref: NCI:C27162
xref: RDO:9003856
is_a: DOID:2519 ! testicular disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3091
name: Acinetobacter infectious disease
def: "An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter. (DO)" [https://www.cdc.gov/HAI/organisms/acinetobacter.html "DO"]
synonym: "Acinetobacter infection" EXACT []
synonym: "Acinetobacter infections" EXACT []
synonym: "Mimae Infection" EXACT []
synonym: "Mimae Infections" EXACT []
xref: EFO:1000792
xref: MESH:D000151
is_a: DOID:0050340 ! opportunistic bacterial infectious disease
is_a: DOID:9005227 ! Moraxellaceae Infections

[Term]
id: DOID:3093
name: nervous system cancer
def: "An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. (DO)" [http://en.wikipedia.org/wiki/Nervous_system_disease "DO"]
synonym: "malignant neoplasm of nervous system" EXACT []
xref: EFO:0007392
xref: ICD9CM:192.9
xref: NCI:C35562
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:9006557 ! Nervous System Neoplasms

[Term]
id: DOID:3095
name: germ cell and embryonal cancer
def: "A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells. (DO)" [http://en.wikipedia.org/wiki/Germ_cell "DO"]
synonym: "embryonal and mixed cancer" EXACT []
synonym: "embryonal cancer" EXACT []
synonym: "embryonal cancers" EXACT []
is_a: DOID:1115 ! sarcoma
is_a: DOID:2994 ! germ cell cancer
is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:3096
name: stenosis of lacrimal sac
xref: ICD10CM:H04.57
xref: ICD9CM:375.54
is_a: DOID:1400 ! lacrimal apparatus disease
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:3098
name: small cell sarcoma
def: "A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36202860/ "DO", MESH:D018228]
synonym: "small cell sarcomas" EXACT []
xref: EFO:1001184
xref: ICDO:8803/3
xref: MESH:D018228
xref: NCI:C3746
is_a: DOID:1115 ! sarcoma

[Term]
id: DOID:310
name: MERRF Syndrome
alt_id: MIM:545000
def: "A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" [MESH:D017243]
synonym: "Fukuhara Disease" EXACT []
synonym: "Fukuhara Syndrome" EXACT []
synonym: "Merff Syndrome" EXACT []
synonym: "MERRF" EXACT []
synonym: "Myoclonic Epilepsy and Ragged Red Fibers" EXACT []
synonym: "Myoclonic Epilepsy Associated with Ragged Red Fibers" EXACT []
synonym: "myoclonic epilepsy - ragged red fibers" EXACT []
synonym: "Myoclonic Epilepsy with Ragged Red Fibers" EXACT []
synonym: "myoclonus epilepsy and ragged red fibers" EXACT []
synonym: "myoclonus with epilepsy and with ragged red fibers" EXACT []
synonym: "Myoclonus with Epilepsy with Ragged Red Fibers" EXACT []
synonym: "Myoencephalopathy Ragged Red Fiber Disease" EXACT []
xref: ICD10CM:E88.42
xref: MESH:D017243
xref: NCI:C84889
is_a: DOID:225 ! syndrome
is_a: DOID:890 ! mitochondrial encephalomyopathy
is_a: DOID:891 ! progressive myoclonus epilepsy
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn

[Term]
id: DOID:3103
name: thoracic outlet syndrome
def: "A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles. (DO)" [http://en.wikipedia.org/wiki/Thoracic_outlet_syndrome "DO"]
synonym: "aperture syndrome, thoracic outlet" EXACT []
synonym: "arterial thoracic outlet syndrome" EXACT []
synonym: "Costoclavicular Syndrome" EXACT []
synonym: "costoclavicular syndromes" EXACT []
synonym: "Neurogenic Thoracic Outlet Syndrome" EXACT []
synonym: "Scalenus Anticus Syndrome" EXACT []
synonym: "Superior Thoracic Aperture Syndrome" EXACT []
synonym: "Thoracic Outlet Nerve Compression Syndrome" EXACT []
synonym: "Thoracic Outlet Neurologic Syndrome" EXACT []
synonym: "thoracic outlet neurovascular syndrome" EXACT []
synonym: "thoracic outlet syndromes" EXACT []
synonym: "TOS - thoracic outlet syndrome" EXACT []
synonym: "venous thoracic outlet syndrome" EXACT []
xref: EFO:0007507
xref: GARD:7759
xref: MESH:D013901
xref: MONDO:0005979
xref: NCI:C85188
xref: ORDO:97330
is_a: DOID:178 ! vascular disease
is_a: DOID:573 ! nerve compression syndrome

[Term]
id: DOID:3107
name: toxascariasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite. (DO)" [http://en.wikipedia.org/wiki/Toxascaris_leonina "DO"]
synonym: "toxascariases" EXACT []
xref: EFO:0007515
xref: MESH:D017227
xref: MONDO:0005987
is_a: DOID:9000395 ! Ascaridida Infections

[Term]
id: DOID:3108
name: ascaridiasis
def: "A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18367882 "DO"]
synonym: "ascaridiases" EXACT []
xref: EFO:0007155
xref: MESH:D001198
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:9000395 ! Ascaridida Infections

[Term]
id: DOID:3109
name: idiopathic CD4-positive T-lymphocytopenia
def: "A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. (DO)" [http://en.wikipedia.org/wiki/Idiopathic_CD4%2B_lymphocytopenia "DO"]
synonym: "CD4+ T lymphocytopenia" EXACT []
synonym: "CD4+ T-lymphocytopenias" EXACT []
synonym: "ICL" EXACT []
synonym: "idiopathic CD4+ T lymphocytopenia" EXACT []
synonym: "idiopathic CD4 lymphopenia" EXACT []
xref: EFO:0007322
xref: MESH:D018344
xref: NCI:C84780
is_a: DOID:9008671 ! T-Lymphocytopenia

[Term]
id: DOID:3110
name: papillary cystadenocarcinoma
def: "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections. (DO)" [http://www.sciencedirect.com/science/article/pii/S1741940905000841 "DO"]
synonym: "papillary cystadenocarcinomas" EXACT []
xref: EFO:0000639
xref: GARD:10162
xref: ICDO:8450/3
xref: MESH:D018283
xref: NCI:C3777
is_a: DOID:3111 ! cystadenocarcinoma

[Term]
id: DOID:3111
name: cystadenocarcinoma
def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. (DO)" [http://en.wikipedia.org/wiki/Cystadenocarcinoma "DO"]
synonym: "cystadenocarcinomas" EXACT []
xref: EFO:0006387
xref: ICDO:8440/3
xref: MESH:D003536
xref: NCI:C2971
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:60004 ! malignant cystadenoma
is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms

[Term]
id: DOID:3112
name: papillary adenocarcinoma
def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue. (DO)" [http://en.wikipedia.org/wiki/Papillary_adenocarcinoma "DO"]
synonym: "infiltrating and papillary adenocarcinoma" EXACT []
synonym: "infiltrating papillary adenocarcinoma" EXACT []
synonym: "papillary adenocarcinomas" EXACT []
xref: ICDO:8260/3
xref: MESH:D000231
xref: NCI:C2853
xref: NCI:C7438
is_a: DOID:299 ! adenocarcinoma

[Term]
id: DOID:3113
name: papillary carcinoma
def: "A carcinoma that is derives_from epithelial cells with finger like projections. (DO)" [http://breastcancer.about.com/od/types/p/papillary_ca.htm "DO"]
synonym: "papillary carcinomas" EXACT []
xref: EFO:1000646
xref: ICDO:8050/3
xref: MESH:D002291
xref: NCI:C2927
is_a: DOID:305 ! carcinoma
is_a: DOID:3168 ! squamous cell neoplasm

[Term]
id: DOID:3114
name: serous cystadenocarcinoma
def: "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. (DO)" [http://ukpmc.ac.uk/abstract/MED/16025006 "DO"]
synonym: "serous adenocarcinoma" EXACT []
synonym: "serous carcinoma" EXACT []
synonym: "serous cystadenocarcinomas" EXACT []
synonym: "serous papillary cystadenocarcinoma ovary" EXACT []
xref: EFO:0003825
xref: MESH:D018284
xref: NCI:C3778
xref: NCI:C40101
is_a: DOID:3111 ! cystadenocarcinoma

[Term]
id: DOID:3116
name: kidney benign neoplasm
synonym: "Ossifying Renal Tumor of Infancy" NARROW []
synonym: "renal and ureteral tumor" EXACT []
synonym: "Renal Angiomyoadenomatous Tumor" NARROW []
xref: EFO:1000111
xref: EFO:1000409
xref: EFO:1000507
xref: NCI:C7514
is_a: DOID:731 ! urinary system benign neoplasm
is_a: DOID:9002265 ! Kidney Neoplasms
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3117
name: hepatobiliary benign neoplasm
def: "A gastrointestinal system benign neoplasm located_in the hepatobiliary system. (DO)" [http://en.wikipedia.org/wiki/Hepatobiliary_system "DO"]
synonym: "hepatobiliary tumors" EXACT []
xref: EFO:0008550
xref: NCI:C8614
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:3118 ! hepatobiliary disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:3118
name: hepatobiliary disease
def: "A gastrointestinal system disease that is located_in the liver and/or biliary tract. (DO)" [http://en.wikipedia.org/wiki/Hepato-biliary_diseases "DO"]
synonym: "liver and biliary tract disease" EXACT []
xref: EFO:0010284
xref: NCI:C3959
xref: RDO:9003386
is_a: DOID:77 ! gastrointestinal system disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:3119
name: gastrointestinal system cancer
def: "An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. (DO)" [http://en.wikipedia.org/wiki/Human_gastrointestinal_tract "DO"]
synonym: "AERODIGESTIVE TRACT CANCER, SUSCEPTIBILITY TO" RELATED []
synonym: "cancer of digestive system" EXACT []
synonym: "cancer of gastrointestinal tract" EXACT []
synonym: "cancer of the digestive system" EXACT []
synonym: "cancer of the gastrointestinal tract" EXACT []
synonym: "digestive system cancer" EXACT []
synonym: "digestive system cancers" EXACT []
synonym: "gastrointestinal tract cancer" EXACT []
synonym: "gastrointestinal tract cancers" EXACT []
synonym: "GI tumor" EXACT []
xref: ICD10CM:C26.9
xref: ICD9CM:239.0
xref: NCI:C3052
xref: NCI:C4890
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:9006796 ! Gastrointestinal Neoplasms

[Term]
id: DOID:312
name: tenosynovitis of foot and ankle
def: "A tenosynovitis that is located in the foot and ankle. (DO)" [https://medlineplus.gov/ency/article/001242.htm "DO"]
xref: ICD9CM:727.06
is_a: DOID:970 ! tenosynovitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3120
name: gallbladder papillomatosis
def: "A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25351203/ "DO"]
xref: NCI:C7130
is_a: DOID:0080640 ! gallbladder benign neoplasm
is_a: DOID:2615 ! papilloma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3121
name: gallbladder cancer
def: "A biliary tract cancer that is located_in the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Gallbladder "DO"]
synonym: "cancer of gallbladder" EXACT []
synonym: "gallbladder Ca" EXACT []
synonym: "gall bladder cancer" EXACT []
synonym: "gall bladder cancers" EXACT []
synonym: "gallbladder cancers" EXACT []
synonym: "localized malignant gallbladder neoplasm" EXACT []
synonym: "malignant neoplasm of gallbladder" EXACT []
synonym: "malignant tumor of the gallbladder" EXACT []
synonym: "malignant tumour of gallbladder" EXACT []
xref: GARD:9328
xref: ICD10CM:C23
xref: ICD9CM:156.0
xref: NCI:C3048
xref: NCI:C35676
xref: NCI:C7481
is_a: DOID:4607 ! biliary tract cancer
is_a: DOID:9000011 ! Gallbladder Neoplasms
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:3122
name: gastric outlet obstruction
def: "The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING." [MESH:D017219]
synonym: "gastric outflow obstruction" EXACT []
synonym: "gastric outlet obstructions" EXACT []
xref: EFO:0009626
xref: EFO:1000947
xref: MESH:D017219
is_a: DOID:76 ! stomach disease

[Term]
id: DOID:3125
name: multiple endocrine neoplasia
def: "A syndrome that is characterized by tumors in at least two endocrine glands. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO"]
synonym: "familial endocrine adenomatoses" EXACT []
synonym: "familial endocrine adenomatosis" EXACT []
synonym: "multiple endocrine adenomatoses" EXACT []
synonym: "multiple endocrine adenomatosis" EXACT []
synonym: "multiple endocrine adenopathies" EXACT []
synonym: "multiple endocrine adenopathy" EXACT []
synonym: "Multiple endocrine neoplasia syndrome" EXACT []
synonym: "multiple endocrine neoplasia syndromes" EXACT []
synonym: "multiple endocrine neoplasms" EXACT []
xref: MESH:D009377
xref: MIM:PS131100
is_a: DOID:9001030 ! Multiple Primary Neoplasms
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes
is_a: DOID:9007803 ! Endocrine Gland Neoplasms

[Term]
id: DOID:3127
name: proctitis
def: "A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding. (DO)" [http://www.cdc.gov/std/Treatment/2006/proctitis.htm "DO", http://www.merck.com/mmpe/sec02/ch020/ch020i.html#sec02-ch020-ch020g-1361 "DO"]
synonym: "Proctitides" EXACT []
synonym: "ulcerative proctitis" NARROW []
xref: EFO:0005628
xref: ICD10CM:K62.89
xref: MESH:D011349
xref: NCI:C38011
is_a: DOID:1285 ! rectal disease
is_a: DOID:2326 ! gastroenteritis

[Term]
id: DOID:3128
name: anus disease
def: "A rectal disease located_in the anus. (DO)" [https://www.health.harvard.edu/a_to_z/anal-disorders-a-to-z "DO", MESH:D001004]
synonym: "anal disease" EXACT []
synonym: "anal fissure and fistula" EXACT []
synonym: "anus diseases" EXACT []
xref: EFO:0009660
xref: MESH:D001004
xref: NCI:C26695
is_a: DOID:1285 ! rectal disease

[Term]
id: DOID:3132
name: porphyria cutanea tarda
alt_id: MIM:176100
def: "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. (DO)" [http://en.wikipedia.org/wiki/Porphyria_cutanea_tarda "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/321/viewAbstract "DO"]
synonym: "Familial porphyria cutanea tarda" NARROW []
synonym: "HEP" NARROW []
synonym: "PCT" EXACT []
synonym: "PCT, 'FAMILIAL' TYPE" NARROW []
synonym: "PCT, type II" NARROW []
synonym: "PORPHYRIA CUTANEA TARDA, TYPE II" NARROW []
synonym: "PORPHYRIA, HEPATOCUTANEOUS TYPE" NARROW []
synonym: "UROD DEFICIENCY  PORPHYRIA, HEPATOERYTHROPOIETIC" NARROW []
synonym: "UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY" EXACT []
xref: EFO:0009043
xref: GARD:7433
xref: ICD10CM:E80.1
xref: MESH:D017119
xref: NCI:C27725
xref: ORDO:101330
is_a: DOID:3133 ! acute porphyria
is_a: DOID:9005584 ! Hepatic Porphyrias

[Term]
id: DOID:3133
name: acute porphyria
def: "A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. (DO)" [http://en.wikipedia.org/wiki/Porphyria "DO", http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/porphyrias/acute_porphyrias.html "DO"]
synonym: "acute porphyrias" EXACT []
synonym: "hepatic porphyria" EXACT [SNOMEDCT_2005_07_31:55056006]
xref: ORDO:100924
is_a: DOID:13268 ! porphyria

[Term]
id: DOID:3134
name: facial dermatosis
def: "Skin diseases involving the FACE." [MESH:D005148]
synonym: "facial dermatoses" EXACT []
synonym: "Favre Racouchot Syndrome" EXACT []
synonym: "Nodular Elastoidoses" EXACT []
synonym: "Nodular Elastoidosis" EXACT []
synonym: "Nodular Elastoses" EXACT []
synonym: "Nodular Elastosis" EXACT []
xref: EFO:1000698
xref: MESH:D005148
is_a: DOID:37 ! skin disease

[Term]
id: DOID:3136
name: scalp dermatosis
def: "Skin diseases involving the SCALP." [MESH:D012536]
synonym: "dermatosis of scalp" EXACT []
synonym: "scalp dermatoses" EXACT []
xref: EFO:1000761
xref: MESH:D012536
is_a: DOID:37 ! skin disease

[Term]
id: DOID:3138
name: acanthosis nigricans
alt_id: MIM:100600
def: "A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32516476/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK431057/ "DO"]
synonym: "Acanthosis Nigrican" EXACT []
synonym: "keratosis nigricans" EXACT []
xref: EFO:1000660
xref: GARD:8603
xref: ICD10CM:L83
xref: MESH:D000052
xref: NCI:C26687
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9001583 ! Melanosis

[Term]
id: DOID:314
name: tenosynovial giant cell tumor
def: "A tumor arising in the SYNOVIAL MEMBRANE; SYNOVIAL BURSA; or TENDON sheath. It is characterized by OSTEOCLAST-like GIANT CELLS; FOAM CELLS; pigmented HEMOSIDERIN-laden MACROPHAGES and inflammatory infiltrate. It is classified either as diffuse or localized tenosynovitis." [MESH:D000070779]
synonym: "fibrous histiocytoma of tendon sheath" EXACT []
synonym: "giant cell tumor of tendon sheath" EXACT []
synonym: "giant cell tumor of tenosynovium" EXACT []
synonym: "giant cell tumour of tendon sheath" EXACT []
synonym: "Giant cell tumour of Tenosynovium" EXACT []
synonym: "Localized Giant Cell Tumor of the Tendon Sheath" EXACT []
synonym: "Localized Nodular Tenosynovitides" EXACT []
synonym: "Localized Nodular Tenosynovitis" EXACT []
synonym: "Localized Pigmented Villonodular Synovitis" EXACT []
synonym: "Nodular Tenosynovitides" EXACT []
synonym: "nodular tenosynovitis" EXACT []
synonym: "tenosynovial giant cell tumour" EXACT []
xref: EFO:1000562
xref: ICD9CM:727.02
xref: ICDO:9252/0
xref: MESH:D000070779
xref: NCI:C3402
is_a: DOID:200 ! benign giant cell tumor
is_a: DOID:2703 ! synovitis
is_a: DOID:971 ! tendinitis

[Term]
id: DOID:3140
name: scleredema adultorum
def: "A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30128796 "DO"]
synonym: "Buschke's Scleredema" EXACT []
synonym: "Buschke scleredema" EXACT []
synonym: "Buschke Scleredema Adultorum" EXACT []
synonym: "Buschke Scleredema Diabeticorum" EXACT []
synonym: "Buschkes Scleredema" EXACT []
synonym: "Scleredema" EXACT []
synonym: "Scleredema Adultorum of Buschke" EXACT []
synonym: "Scleredema Diabeticorum" EXACT []
synonym: "Scleredema Diabeticorum of Buschke" EXACT []
synonym: "Scleredema Diabeticorums" EXACT []
synonym: "scleredemas" EXACT []
xref: EFO:1000762
xref: GARD:5975
xref: MESH:D012592
xref: NCI:C85057
is_a: DOID:3141 ! mucinoses
is_a: DOID:3488 ! cellulitis

[Term]
id: DOID:3141
name: mucinoses
def: "A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue. (DO)" [https://en.wikipedia.org/wiki/Mucinosis "DO", https://www.dermnetnz.org/topics/cutaneous-mucinoses/ "DO"]
synonym: "mucinosis" EXACT []
xref: MESH:D017520
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:3142
name: leg dermatosis
def: "A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)" [MESH:D007868]
synonym: "leg dermatoses" EXACT []
xref: EFO:1000723
xref: MESH:D007868
is_a: DOID:37 ! skin disease

[Term]
id: DOID:3144
name: cutis laxa
def: "A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity. (DO)" [http://en.wikipedia.org/wiki/Cutis_laxa "DO", http://ghr.nlm.nih.gov/condition/cutis-laxa "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract "DO"]
synonym: "CUTIS LAXA, DOMINANT/RECESSIVE" NARROW []
synonym: "dermatolyses" EXACT []
synonym: "dermatolysis" EXACT []
synonym: "dermatomegaly" EXACT []
synonym: "loose skin" EXACT []
xref: GARD:6227
xref: MESH:D003483
xref: MIM:PS123700
xref: NCI:C84663
xref: ORDO:209
is_a: DOID:37 ! skin disease
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:3145
name: hyperlipoproteinemia type III
alt_id: MIM:617347
def: "A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13. (DO)" [https://omim.org/entry/617347 "DO"]
synonym: "APOE2 isoforms" RELATED []
synonym: "APOE3(-)-KOCHI" RELATED []
synonym: "APOE3-WASHINGTON" RELATED []
synonym: "APOE5 VARIANT" RELATED []
synonym: "apolipoprotein E, deficiency or defect of" EXACT []
synonym: "carbohydrate induced hyperlipemia" EXACT []
synonym: "CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO" RELATED []
synonym: "Dysbetalipoproteinemia" EXACT []
synonym: "DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E-d" EXACT []
synonym: "Familial Dysbetalipoproteinemia" EXACT []
synonym: "familial hypercholesterolaemia with hyperlipaemia" EXACT []
synonym: "familial hypercholesterolemia with hyperlipemia" EXACT []
synonym: "familial type 3 hyperlipoproteinemia" EXACT []
synonym: "FLOATING-BETALIPOPROTEINEMIA" EXACT []
synonym: "hyperlipoproteinemias type III" EXACT []
synonym: "hyperlipoproteinemias type III, due to APOE2" NARROW []
synonym: "HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON)" NARROW []
synonym: "remnant hyperlipidemia" EXACT []
xref: MESH:D006952
xref: NCI:C34710
is_a: DOID:9003468 ! Apolipoprotein E, Deficiency or Defect of
is_a: DOID:9007571 ! Hyperlipoproteinemias

[Term]
id: DOID:3146
name: lipid metabolism disorder
def: "An inherited metabolic disorder that involves the creation and degradation of lipids. (DO)" [http://en.wikipedia.org/wiki/Lipid_metabolism "DO"]
synonym: "fatty acid metabolism disorder" EXACT []
synonym: "lipid metabolism disorders" EXACT []
synonym: "lipid metabolism, inborn error" EXACT []
synonym: "lipid metabolism, inborn errors" EXACT []
xref: MESH:D008052
xref: MESH:D052439
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:3148
name: dermal unilateral segmental cavernous angioma
synonym: "Unilateral segmental cavernous hemangioma" EXACT [SNOMEDCT_2005_07_31:254783008]
synonym: "Unilateral Segmental Cavernous hemangioma of the skin" EXACT [NCI2004_11_17:C4750]
xref: RDO:9004568
is_a: DOID:483 ! cavernous hemangioma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:3149
name: keratoacanthoma
def: "A benign, non-neoplastic, usually self-limiting epithelial lesion closely resembling squamous cell carcinoma clinically and histopathologically. It occurs in solitary, multiple, and eruptive forms. The solitary and multiple forms occur on sunlight exposed areas and are identical histologically; they affect primarily white males. The eruptive form usually involves both sexes and appears as a generalized papular eruption." []
synonym: "Keratoacanthomas" EXACT []
xref: MESH:D007636
xref: NCI:C3146
is_a: DOID:3151 ! skin squamous cell carcinoma

[Term]
id: DOID:315
name: synovium neoplasm
synonym: "synovial neoplasm" EXACT []
synonym: "tumor of synovium" EXACT []
xref: NCI:C8964
is_a: DOID:0060123 ! connective tissue benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:3151
name: skin squamous cell carcinoma
def: "A skin carcinoma that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"]
synonym: "cutaneous squamous cell carcinoma" EXACT []
synonym: "epidermoid skin carcinoma" EXACT []
synonym: "spinous cell carcinoma" EXACT []
synonym: "squamous cell carcinoma of skin" EXACT []
xref: EFO:1001927
xref: NCI:C4819
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:3451 ! skin carcinoma
created_by: rgd
creation_date: 2015-08-21T00:00:00Z

[Term]
id: DOID:3153
name: lipomatosis
def: "A disorder characterized by the accumulation of encapsulated or unencapsulated tumor-like fatty tissue resembling LIPOMA." [MESH:D008068]
synonym: "lipomatoses" EXACT []
xref: EFO:1000728
xref: MESH:D008068
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:37 ! skin disease

[Term]
id: DOID:3156
name: hypomelanosis of Ito
def: "A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). (DO)" [https://rarediseases.org/rare-diseases/hypomelanosis-of-ito/ "DO"]
synonym: "Bloch-Siemans syndrome" EXACT []
synonym: "HMI" EXACT []
synonym: "incontinentia pigmenti achromians" EXACT []
synonym: "incontinentia pigmenti achromians syndrome" EXACT []
synonym: "incontinentia pigmenti syndrome" EXACT []
synonym: "incontinentia pigmenti, type I" EXACT []
synonym: "IP1" EXACT []
synonym: "IPA" EXACT []
synonym: "ITO" EXACT []
synonym: "Ito's nevus" EXACT []
synonym: "ITO hypomelanosis" EXACT []
synonym: "nevus fuscocaeruleus acromiodeltoideus" EXACT []
synonym: "nevus of Ito" EXACT []
xref: EFO:1000395
xref: EFO:1000716
xref: MIM:300337
xref: MONDO:0010631
xref: NCI:C7582
xref: ORDO:263432
is_a: DOID:12305 ! Bloch-Sulzberger syndrome
is_a: DOID:9005660 ! Hypopigmentation
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:3158
name: hand dermatosis
def: "Skin diseases involving the HANDS." [MESH:D006229]
synonym: "Hand Dermatoses" EXACT []
xref: EFO:1000706
xref: MESH:D006229
is_a: DOID:37 ! skin disease

[Term]
id: DOID:3159
name: photosensitivity disease
def: "Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy." [MESH:D010787]
synonym: "Actinic Dermatitides" EXACT []
synonym: "Actinic Dermatitis" EXACT []
synonym: "Actinic Reticuloid Syndrome" EXACT []
synonym: "Actinic Reticuloid Syndromes" EXACT []
synonym: "Chronic Actinic Dermatitides" EXACT []
synonym: "Chronic Actinic Dermatitis" EXACT []
synonym: "Photodermatitides" EXACT []
synonym: "Photodermatitis" EXACT []
synonym: "Photosensitivity Disorder" EXACT []
synonym: "Photosensitivity Disorders" EXACT []
synonym: "Photosensitization" EXACT []
xref: EFO:1000752
xref: MESH:D010787
xref: RDO:0001713
is_a: DOID:2723 ! dermatitis
is_a: DOID:37 ! skin disease

[Term]
id: DOID:3162
name: malignant spindle cell melanoma
def: "A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144801/ "DO"]
synonym: "desmoplastic melanoma" RELATED []
synonym: "spindle cell melanoma" EXACT []
synonym: "Spitzoid malignant melanoma" EXACT []
xref: EFO:1000546
xref: NCI:C4237
is_a: DOID:1909 ! melanoma
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:3165
name: skin benign neoplasm
def: "A benign proliferation in the skin." []
synonym: "benign neoplasm of skin" EXACT []
synonym: "benign tumor of skin" EXACT []
xref: EFO:0004198
xref: NCI:C3372
is_a: DOID:0060121 ! integumentary system benign neoplasm
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:3168
name: squamous cell neoplasm
def: "A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"]
synonym: "epidermoid cell tumor" EXACT []
synonym: "squamous cell neoplasms" EXACT []
synonym: "squamous cell tumor" EXACT []
xref: MESH:D018307
xref: NCI:C3792
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms

[Term]
id: DOID:3172
name: papillary adenoma
synonym: "glandular papilloma" EXACT []
synonym: "papillary adenomas" EXACT []
xref: ICDO:8260/0
xref: NCI:C79951
is_a: DOID:2615 ! papilloma
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:3173
name: fallopian tube serous papilloma
def: "A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth. (DO)" [https://en.wikipedia.org/wiki/Papilloma "DO", https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=true&q=serous "DO"]
xref: NCI:C40112
xref: RDO:9005012
is_a: DOID:0060111 ! fallopian tube benign neoplasm
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:3177
name: verrucous papilloma
xref: ICDO:8051/0
xref: NCI:C4101
is_a: DOID:2615 ! papilloma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3178
name: skin papilloma
def: "A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK560737/ "DO"]
synonym: "cutaneous papilloma" EXACT []
synonym: "papilloma of skin" EXACT []
synonym: "verruca" EXACT []
synonym: "verrucas" EXACT []
synonym: "wart" EXACT []
synonym: "warts" EXACT []
xref: MESH:D014860
xref: NCI:C4614
is_a: DOID:11166 ! papillomavirus infectious disease
is_a: DOID:2615 ! papilloma
is_a: DOID:9000894 ! Benign Skin Neoplasms, Epithelial
is_a: DOID:9001063 ! Viral Skin Diseases

[Term]
id: DOID:3179
name: inverted papilloma
def: "A mucosal tumor of the urinary bladder or nasal cavity in which proliferating epithelium is invaginated beneath the surface and is more smoothly rounded than in other papillomas. (Stedman, 25th ed)" [MESH:D018308]
synonym: "Inverted Papillomas" EXACT []
synonym: "squamous cell inverted papilloma" EXACT []
xref: MESH:D018308
xref: NCI:C3793
is_a: DOID:2615 ! papilloma

[Term]
id: DOID:318
name: progressive muscular atrophy
synonym: "Duchenne-Aran muscular atrophy" EXACT []
synonym: "progressive muscular atrophies" EXACT []
synonym: "progressive spinal muscular atrophy" EXACT []
synonym: "pure progressive muscular atrophy" EXACT []
xref: ICD9CM:335.21
xref: NCI:C85027
is_a: DOID:12377 ! spinal muscular atrophy
is_a: DOID:231 ! motor neuron disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3181
name: oligodendroglioma
def: "A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)" [MESH:D009837]
synonym: "Mixed Oligodendroglioma Astrocytoma" NARROW []
synonym: "mixed oligodendroglioma-astrocytomas" NARROW []
synonym: "Mixed Oligodendroglioma Ependymoma" NARROW []
synonym: "mixed oligodendroglioma-ependymomas" NARROW []
synonym: "oligodendroblastoma" EXACT []
synonym: "oligodendroblastomas" EXACT []
synonym: "oligodendroglial neoplasm" EXACT []
synonym: "oligodendroglial tumor" EXACT []
synonym: "oligodendrogliomas" EXACT []
synonym: "well differentiated oligodendroglioma" EXACT []
synonym: "well-differentiated oligodendrogliomas" EXACT []
xref: EFO:0000631
xref: EFO:0000632
xref: GARD:9953
xref: ICDO:9450/3
xref: MESH:D009837
xref: NCI:C129319
xref: NCI:C3288
xref: NCI:C6960
is_a: DOID:3070 ! high grade glioma

[Term]
id: DOID:3183
name: childhood oligodendroglioma
synonym: "childhood oligodendrogliomas" EXACT []
synonym: "pediatric oligodendroglioma" EXACT []
xref: ICD-O:M9450/3
xref: NCI:C4045
is_a: DOID:3181 ! oligodendroglioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3184
name: spinal cord oligodendroglioma
synonym: "oligodendroglioma of spinal cord" EXACT []
synonym: "well differentiated spinal cord oligodendroglioma" EXACT []
xref: NCI:C4535
is_a: DOID:3181 ! oligodendroglioma
is_a: DOID:3185 ! spinal cord glioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3185
name: spinal cord glioma
def: "A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells. (DO)" [http://www.cancer.gov/dictionary?CdrID=45700 "DO"]
synonym: "glial neoplasm spinal cord" EXACT []
synonym: "glial tumor of spinal cord" EXACT []
synonym: "glioma of spinal cord" EXACT []
xref: NCI:C4534
is_a: DOID:3070 ! high grade glioma
is_a: DOID:5612 ! spinal cancer
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:3186
name: adult oligodendroglioma
synonym: "adult brain oligodendroglioma" EXACT []
synonym: "grade II adult Oligodendroglial tumor" EXACT []
xref: NCI:C4014
xref: NCI:C9376
is_a: DOID:3181 ! oligodendroglioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3187
name: brain oligodendroglioma
def: "A brain glioma that has_material_basis_in oligodendrocytes. (DO)" [http://www.cancer.gov/dictionary?CdrID=46257 "DO"]
synonym: "oligodendroglioma of brain" EXACT []
xref: NCI:C9377
is_a: DOID:0060108 ! brain glioma
is_a: DOID:3181 ! oligodendroglioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:319
name: spinal cord disease
alt_id: OMIA:000263
def: "Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord." [MESH:D013118]
synonym: "Degenerative myelopathy" NARROW []
synonym: "Myelopathies" EXACT []
synonym: "Myelopathy" EXACT []
synonym: "spinal cord diseases" EXACT []
synonym: "Spinal Cord Disorder" EXACT []
synonym: "Spinal Cord Disorders" EXACT []
xref: EFO:0009488
xref: ICD10CM:G95.9
xref: ICD9CM:336.9
xref: MESH:D013118
xref: NCI:C97110
xref: RDO:0002593
is_a: DOID:331 ! central nervous system disease

[Term]
id: DOID:3191
name: nemaline myopathy
def: "A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. (DO)" [http://en.wikipedia.org/wiki/Nemaline_myopathy "DO", http://ghr.nlm.nih.gov/condition/nemaline-myopathy "DO", https://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract "DO"]
synonym: "adult onset nemaline myopathy" EXACT []
synonym: "Childhood Onset Nemaline Myopathy" EXACT []
synonym: "Late Onset Nemaline Myopathy" EXACT []
synonym: "Nemaline Body Disease" EXACT []
synonym: "nemaline myopathies" EXACT []
synonym: "nemaline myopathy, autosomal dominant" NARROW []
synonym: "nemaline myopathy, autosomal recessive" NARROW []
synonym: "nemaline myopathy, dominant" NARROW []
synonym: "nemaline myopathy, recessive" NARROW []
synonym: "Nemaline Rod Disease" EXACT []
synonym: "nemaline rod myopathy" EXACT []
synonym: "Rod Body Disease" EXACT []
synonym: "Rod-Body Myopathies" EXACT []
synonym: "Rod Body Myopathy" EXACT []
synonym: "Rod Myopathies" EXACT []
synonym: "rod myopathy" EXACT []
xref: EFO:0020036
xref: GARD:12033
xref: ICD10CM:G71.21
xref: MESH:D017696
xref: MIM:PS161800
xref: ORDO:607
is_a: DOID:0081337 ! congenital myopathy

[Term]
id: DOID:3192
name: neurilemmoma
alt_id: DOID:955
def: "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells. (DO)" [https://en.wikipedia.org/wiki/Schwannoma "DO"]
synonym: "benign neurilemmoma" EXACT []
synonym: "Malignant Neurilemmoma" EXACT []
synonym: "malignant neurilemmomas" EXACT []
synonym: "Malignant Neurilemoma" EXACT []
synonym: "malignant neurilemomas" EXACT []
synonym: "Malignant Schwannoma" EXACT []
synonym: "malignant schwannomas" EXACT []
synonym: "MPNST" EXACT []
synonym: "Neurilemmomas" EXACT []
synonym: "neurilemmosarcoma" EXACT []
synonym: "Neurilemmosarcomas" EXACT []
synonym: "Neurilemoma" EXACT []
synonym: "Neurilemomas" EXACT []
synonym: "neurinoma" EXACT []
synonym: "neurinomas" EXACT []
synonym: "plexiform schwannomatoses" EXACT []
synonym: "plexiform schwannomatosis" EXACT []
synonym: "psammomatous schwannoma" EXACT []
synonym: "schwannoma" EXACT []
synonym: "schwannomas" EXACT []
xref: EFO:0000693
xref: GARD:4767
xref: ICDO:9560/3
xref: MESH:D009442
xref: NCI:C21997
xref: NCI:C3269
xref: NCI:C60465
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:2001 ! neuroma

[Term]
id: DOID:3193
name: peripheral nerve sheath neoplasm
def: "A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves. (DO)" [http://en.wikipedia.org/wiki/Malignant_peripheral_nerve_sheath_tumor "DO"]
synonym: "neoplasm of the nerve sheath" EXACT []
synonym: "nerve sheath tumour" EXACT []
is_a: DOID:1192 ! peripheral nervous system neoplasm
is_a: DOID:9004217 ! Nerve Sheath Neoplasms
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:3196
name: cellular schwannoma
def: "A neurilemmoma with a predominantly cellular growth but no Verocay bodies. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2400975 "DO"]
synonym: "cellular Neurinoma" EXACT [NCI2004_11_17:C4724]
xref: EFO:0000693
xref: NCI:C4724
xref: RDO:9003537
is_a: DOID:3192 ! neurilemmoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:3197
name: schwannoma of twelfth cranial nerve
def: "A neurilemmoma that is located_in the 12th cranial nerve. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078147/ "DO"]
synonym: "hypoglossal schwannoma" EXACT []
xref: MONDO:0002549
xref: NCI:C5434
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:13814 ! hypoglossal nerve disease
is_a: DOID:2815 ! cranial nerve malignant neoplasm
is_a: DOID:3192 ! neurilemmoma
is_a: DOID:3198 ! hypoglossal nerve neoplasm
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3198
name: hypoglossal nerve neoplasm
synonym: "neoplasm of hypoglossal nerve" EXACT []
synonym: "tumor of hypoglossal nerve" EXACT []
xref: NCI:C5830
is_a: DOID:13814 ! hypoglossal nerve disease
is_a: DOID:2815 ! cranial nerve malignant neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:3199
name: C-P angle neurinoma
synonym: "Cerebellopontine Angle Neurinoma" EXACT [NCI2004_11_17:C5413]
xref: NCI:C5413
xref: RDO:9004057
is_a: DOID:3200 ! cerebellopontine angle tumor
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:320
name: vascular myelopathy
synonym: "vascular myelopathies" EXACT []
xref: ICD10CM:G95.1
xref: ICD9CM:336.1
xref: RDO:9004271
is_a: DOID:319 ! spinal cord disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3200
name: cerebellopontine angle tumor
def: "A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle. (DO)" [https://en.wikipedia.org/wiki/Cerebellopontine_angle_syndrome "DO"]
synonym: "cerebellopontine angle tumour" EXACT []
synonym: "neoplasm of the cerebellopontine angle" EXACT []
xref: NCI:C5414
is_a: DOID:4203 ! brain stem cancer
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:3201
name: sympathetic neurilemmoma
xref: NCI:C5421
is_a: DOID:2621 ! autonomic nervous system neoplasm
is_a: DOID:3192 ! neurilemmoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3202
name: neurilemmoma of the fifth cranial nerve
synonym: "trigeminal neurilemmoma" EXACT []
synonym: "trigeminal schwannoma" EXACT []
xref: NCI:C4655
xref: RDO:9003681
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:1201 ! trigeminal nerve neoplasm
is_a: DOID:3192 ! neurilemmoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3203
name: macrocystic neurilemmoma
xref: NCI:C5321
is_a: DOID:3192 ! neurilemmoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3204
name: schwannomatosis
def: "A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors. (DO)" [https://health.ucdavis.edu/mindinstitute/clinic/genomic-medicine/RASclinic.html "DO", https://pubmed.ncbi.nlm.nih.gov/35674741/ "DO"]
synonym: "congenital cutaneous neurilemmomatosis" EXACT []
synonym: "neurilemmomatosis" EXACT []
synonym: "neurinomatosis" EXACT []
synonym: "schwannomatosis, somatic" NARROW []
synonym: "SWN" EXACT []
xref: ICD10CM:Q85.03
xref: ICD9CM:237.73
xref: ICDO:9560/1
xref: MESH:C536641
xref: MIM:PS162091
xref: MONDO:0008075
xref: NCI:C6557
xref: ORDO:93921
is_a: DOID:0080690 ! RASopathy
is_a: DOID:3192 ! neurilemmoma
is_a: DOID:8712 ! neurofibromatosis

[Term]
id: DOID:3205
name: melanotic neurilemmoma
synonym: "melanotic schwannoma" EXACT []
synonym: "pigmented neurilemmoma" EXACT []
synonym: "pigmented schwannoma" EXACT []
xref: NCI:C6970
is_a: DOID:3192 ! neurilemmoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3206
name: plexiform schwannoma
synonym: "plexiform neurilemmoma" EXACT []
synonym: "plexiform neurinoma" EXACT []
xref: EFO:0000693
xref: NCI:C6969
is_a: DOID:3192 ! neurilemmoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3209
name: junctional epidermolysis bullosa
alt_id: OMIA:001677
def: "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. (DO)" [https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#genes "DO"]
synonym: "congenital junctional epidermolysis bullosa" EXACT []
synonym: "epidermolysis bullosa junctionalis" EXACT []
synonym: "epidermolysis bullosa junctionalis, LAMA3-related" NARROW []
synonym: "epidermolysis bullosa progressiva" EXACT []
synonym: "Herlitz's disease" EXACT []
synonym: "Herlitz disease" EXACT []
synonym: "Herlitzs disease" EXACT []
xref: GARD:2152
xref: MESH:D016109
xref: MIM:PS226650
xref: NCI:C90598
is_a: DOID:2730 ! epidermolysis bullosa

[Term]
id: DOID:321
name: tropical spastic paraparesis
alt_id: MIM:159580
def: "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms. (DO)" [http://en.wikipedia.org/wiki/Tropical_spastic_paraparesis "DO", http://www.merckmanuals.com/professional/sec16/ch224/ch224k.html "DO"]
synonym: "Familial Spastic Paraparesis, Htlv 1 Associated" EXACT []
synonym: "HAM" EXACT []
synonym: "HAM/TSP" EXACT []
synonym: "HTLV-1-associated myelopathies" EXACT []
synonym: "Htlv-1-Associated Myelopathy" EXACT []
synonym: "HTLV-1-associated myelopathy/tropical spastic paraparesis" EXACT []
synonym: "HTLV-associated myelopathy" EXACT []
synonym: "HTLV I associated myelopathies" EXACT []
synonym: "HTLV I Associated Myelopathy" EXACT []
synonym: "HTLV I Associated Myelopathy Tropical Spastic Paraparesis" EXACT []
synonym: "Human T Lymphotropic Virus Type 1 Associated Myelopathy" EXACT []
synonym: "tropical spastic paralysis" EXACT []
synonym: "Tropical Spastic Parapareses" EXACT []
synonym: "tropical spastic paraplegia" EXACT []
synonym: "tropical spastic paraplegias" EXACT []
xref: EFO:0007527
xref: ICD10CM:G04.1
xref: MESH:D015493
xref: NCI:C179058
is_a: DOID:322 ! myelitis
is_a: DOID:9002598 ! Spastic Paraparesis
is_a: DOID:9002670 ! HTLV-I Infections

[Term]
id: DOID:3210
name: Pelizaeus-Merzbacher disease
alt_id: MIM:312080
alt_id: OMIA:000770
def: "A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK560522/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/15627202 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2773936 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3476455 "DO"]
synonym: "adult Pelizaeus Merzbacher disease" EXACT []
synonym: "atypical Pelizaeus Merzbacher disease" EXACT []
synonym: "brain Pelizaeus-Merzbacher sclerosis" EXACT []
synonym: "classic Pelizaeus Merzbacher Disease" EXACT []
synonym: "Cockayne Pelizaeus Merzbacher Disease" EXACT []
synonym: "diffuse familial brain sclerosis" EXACT []
synonym: "HLD1" EXACT []
synonym: "hypomyelinating leukodystrophy 1" EXACT []
synonym: "Pelizaeus-Merzbacher disease, connatal" NARROW []
synonym: "Pelizaeus-Merzbacher disease, mild" NARROW []
synonym: "PMD" EXACT []
synonym: "sudanophilic leukodystrophy" EXACT []
synonym: "sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT []
synonym: "transitional Pelizaeus Merzbacher disease" EXACT []
xref: GARD:4265
xref: MESH:D020371
xref: NCI:C75487
xref: ORDO:702
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
is_a: DOID:0080012 ! X-linked recessive disease

[Term]
id: DOID:3211
name: lysosomal storage disease
def: "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. (DO)" [http://en.wikipedia.org/wiki/Lysosomal_storage_disease "DO"]
synonym: "disorder of lysosomal enzyme" EXACT []
synonym: "inborn lysosomal enzyme disorder" EXACT []
synonym: "lysosomal enzyme disorder" EXACT []
synonym: "lysosomal enzyme disorders" EXACT []
synonym: "lysosomal storage diseases" EXACT []
synonym: "lysosomal storage metabolism disorder" EXACT []
xref: MESH:D016464
xref: NCI:C61250
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:3213
name: demyelinating disease
def: "A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17071802 "DO"]
synonym: "Clinically Isolated CNS Demyelinating Syndrome" EXACT []
synonym: "demyelinating diseases" EXACT []
synonym: "Demyelinating Disorder" EXACT []
synonym: "Demyelinating Disorders" EXACT []
synonym: "Demyelination" EXACT []
synonym: "Demyelinations" EXACT []
xref: MESH:D003711
xref: NCI:C34527
is_a: DOID:1289 ! neurodegenerative disease

[Term]
id: DOID:3216
name: jejunal somatostatinoma
def: "Somatosatinoma of Jejunum" []
synonym: "jejunal delta cell somatostatin producing tumor" EXACT []
synonym: "Somatosatinoma of Jejunum" EXACT [NCI2004_11_17:C5787]
xref: NCI:C5787
is_a: DOID:13499 ! jejunal cancer

[Term]
id: DOID:3218
name: jejunal neoplasm
def: "Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." [MESH:D007580]
synonym: "jejunal neoplasms" EXACT []
synonym: "jejunal tumor" EXACT []
synonym: "neoplasm of jejunum" EXACT []
synonym: "tumor of jejunum" EXACT []
xref: MESH:D007580
xref: NCI:C8401
is_a: DOID:7505 ! small intestine benign neoplasm
is_a: DOID:9002245 ! Intestinal Neoplasms
is_a: DOID:9003144 ! Jejunal Diseases

[Term]
id: DOID:322
name: myelitis
def: "A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord. (DO)" [https://en.wikipedia.org/wiki/Myelitis "DO"]
synonym: "Infectious Myelitis" EXACT []
synonym: "inflammatory myelopathies" EXACT []
synonym: "Inflammatory Myelopathy" EXACT []
synonym: "Myelitides" EXACT []
synonym: "Spinal Cord Inflammation" EXACT []
synonym: "Spinal Cord Inflammations" EXACT []
synonym: "subacute necrotising myelitis" EXACT []
xref: EFO:1001472
xref: GARD:7130
xref: MESH:D009187
xref: NCI:C26832
is_a: DOID:319 ! spinal cord disease
is_a: DOID:9000025 ! Central Nervous System Infections
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:3222
name: causalgia
def: "A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359)" [MESH:D002422]
synonym: "Causalgia Syndrome" EXACT []
synonym: "Causalgia Syndromes" EXACT []
synonym: "Complex Regional Pain Syndrome Type II" EXACT []
synonym: "CRPS Type II" EXACT []
synonym: "Deafferentation Pain" EXACT []
xref: EFO:1000854
xref: MESH:D002422
xref: NCI:C121572
is_a: DOID:3223 ! complex regional pain syndrome
is_a: DOID:9005968 ! Neuralgia

[Term]
id: DOID:3223
name: complex regional pain syndrome
def: "Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)" [MESH:D020918]
synonym: "complex regional pain syndromes" EXACT []
synonym: "CRPS (Complex Regional Pain Syndromes)" EXACT []
xref: EFO:1001998
xref: GARD:4647
xref: MESH:D020918
xref: RDO:0005150
is_a: DOID:11465 ! autonomic nervous system disease
is_a: DOID:225 ! syndrome
is_a: DOID:574 ! peripheral nervous system disease

[Term]
id: DOID:3225
name: tracheal disease
def: "Diseases involving the TRACHEA." [MESH:D014133]
synonym: "tracheal diseases" EXACT []
synonym: "tracheal disorder" EXACT []
xref: MESH:D014133
xref: MONDO:0002567
xref: NCI:C35079
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:3227
name: tracheal stenosis
def: "A pathological narrowing of the TRACHEA." [MESH:D014135]
synonym: "stenosis of trachea" EXACT []
synonym: "Tracheal Stenoses" EXACT []
xref: MESH:D014135
xref: NCI:C78646
is_a: DOID:3225 ! tracheal disease

[Term]
id: DOID:3229
name: gastric dilatation
alt_id: RDO:0006620
def: "Abnormal distention of the STOMACH due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of GASTRIC OUTLET OBSTRUCTION; ILEUS; GASTROPARESIS; or denervation." [MESH:D013271]
synonym: "Gastric Dilation" EXACT []
synonym: "Stomach Dilatation" EXACT []
synonym: "Stomach Dilation" EXACT []
xref: MESH:D013271
is_a: DOID:76 ! stomach disease

[Term]
id: DOID:3230
name: high pressure neurological syndrome
def: "A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and SEIZURES. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium." [MESH:D006610]
synonym: "Experimental High Pressure Neurological Syndrome" EXACT []
synonym: "High Pressure Nervous Syndrome" EXACT []
synonym: "High Pressure Neural Syndrome" EXACT []
synonym: "HPNS" EXACT []
synonym: "HPNSs" EXACT []
xref: MESH:D006610
xref: RDO:0005803
is_a: DOID:225 ! syndrome
is_a: DOID:331 ! central nervous system disease
is_a: DOID:9005463 ! Occupational Diseases

[Term]
id: DOID:3234
name: central nervous system lymphoma
def: "A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. (DO)" [https://www.lls.org/lymphoma/non-hodgkin-lymphoma/treatment/treatment-for-aggressive-nhl-subtypes/central-nervous-system-cns-lymphoma "DO"]
synonym: "microglioma" EXACT []
synonym: "PCNSL" EXACT []
synonym: "primary central nervous system lymphoma" EXACT []
synonym: "primary CNS lymphoma" EXACT []
xref: EFO:1000157
xref: ICD9CM:200.5
xref: NCI:C9301
is_a: DOID:0060058 ! lymphoma
is_a: DOID:5772 ! central nervous system hematologic cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:3240
name: aspiration pneumonitis
def: "A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. (DO)" [http://www.nejm.org/doi/full/10.1056/NEJM200103013440908 "DO"]
synonym: "Chemical pneumonitis" EXACT []
synonym: "Mendelson's Syndrome" EXACT []
xref: EFO:1001399
xref: ICD10CM:J69.0
xref: RDO:9004846
is_a: DOID:552 ! pneumonia
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:3241
name: lipid pneumonia
def: "An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent. (DO)" [http://en.wikipedia.org/wiki/Lipid_pneumonia "DO"]
synonym: "exogenous lipoid pneumonia" EXACT []
synonym: "Lipid Pneumonias" EXACT []
synonym: "lipoid pneumonitis" EXACT []
xref: EFO:0007345
xref: ICD10CM:J69.1
xref: MESH:D011017
is_a: DOID:0050152 ! aspiration pneumonia
is_a: DOID:3240 ! aspiration pneumonitis

[Term]
id: DOID:3246
name: embryonal rhabdomyosarcoma
def: "A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. (DO)" [http://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma "DO", http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/Patient/page1 "DO"]
synonym: "Embryonal Rhabdomyosarcomas" EXACT []
xref: EFO:0000437
xref: GARD:4702
xref: ICDO:8910/3
xref: MESH:D018233
xref: NCI:C8971
xref: ORDO:99757
is_a: DOID:3247 ! rhabdomyosarcoma
is_a: DOID:3308 ! embryonal carcinoma

[Term]
id: DOID:3247
name: rhabdomyosarcoma
def: "A skeletal muscle cancer that arise from skeletal muscle progenitors. (DO)" [http://en.wikipedia.org/wiki/Rhabdomyosarcoma "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9425116/ "DO"]
synonym: "Rhabdomyosarcomas" EXACT []
synonym: "Rhabdomyosarcoma, somatic" NARROW []
xref: EFO:0002918
xref: ICDO:8900/3
xref: MESH:D012208
xref: NCI:C129300
xref: NCI:C24022
xref: NCI:C3359
xref: NCI:C60504
is_a: DOID:4043 ! skeletal muscle cancer

[Term]
id: DOID:3250
name: pleomorphic rhabdomyosarcoma
synonym: "anaplastic rhabdomyosarcoma" EXACT []
xref: NCI:C4258
is_a: DOID:3247 ! rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3251
name: prostate embryonal rhabdomyosarcoma
def: "A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863144/ "DO"]
synonym: "embryonal rhabdomyosarcoma of the prostate" EXACT []
xref: NCI:C5525
is_a: DOID:3246 ! embryonal rhabdomyosarcoma
is_a: DOID:3252 ! prostate rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:3252
name: prostate rhabdomyosarcoma
def: "A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26776454 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29468476 "DO"]
synonym: "rhabdomyosarcoma of the prostate" EXACT []
xref: EFO:1000498
xref: NCI:C5522
is_a: DOID:3247 ! rhabdomyosarcoma
is_a: DOID:4054 ! prostate sarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3253
name: embryonal extrahepatic bile duct rhabdomyosarcoma
xref: NCI:C5847
is_a: DOID:3246 ! embryonal rhabdomyosarcoma
is_a: DOID:3254 ! bile duct rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3254
name: bile duct rhabdomyosarcoma
def: "A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct. (DO)" [http://en.wikipedia.org/wiki/Rhabdomyosarcoma "DO"]
synonym: "rhabdomyosarcoma of the bile duct" EXACT []
xref: NCI:C5860
is_a: DOID:3247 ! rhabdomyosarcoma
is_a: DOID:4064 ! bile duct sarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3255
name: botryoid rhabdomyosarcoma
synonym: "botryoid sarcoma" EXACT []
synonym: "botryoid-type embryonal rhabdomyosarcoma" EXACT []
synonym: "sarcoma botryoides" EXACT []
xref: NCI:C9150
is_a: DOID:3246 ! embryonal rhabdomyosarcoma

[Term]
id: DOID:3258
name: orbit embryonal rhabdomyosarcoma
def: "An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/ "DO"]
synonym: "embryonal rhabdomyosarcoma of the orbit" EXACT []
xref: NCI:C6246
is_a: DOID:3246 ! embryonal rhabdomyosarcoma
is_a: DOID:3259 ! orbit rhabdomyosarcoma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:3259
name: orbit rhabdomyosarcoma
def: "An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children. (DO)" [https://eyewiki.aao.org/Orbital_Rhabdomyosarcoma "DO", https://link.springer.com/chapter/10.1007/978-1-4613-2029-6_14 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/ "DO"]
synonym: "rhabdomyosarcoma of orbit" EXACT []
synonym: "rhabdomyosarcoma of the orbit" EXACT []
xref: MESH:C537605
xref: NCI:C4543
is_a: DOID:4051 ! alveolar rhabdomyosarcoma
is_a: DOID:9987 ! orbit sarcoma

[Term]
id: DOID:326
name: ischemia
def: "A vascular disease that is characterized by a restriction in blood supply to tissues. (DO)" [http://en.wikipedia.org/wiki/Ischemia "DO"]
synonym: "ischemias" EXACT []
xref: EFO:0000556
xref: MESH:D007511
xref: NCI:C34738
is_a: DOID:178 ! vascular disease
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:3260
name: spindle cell rhabdomyosarcoma
def: "A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34958505/ "DO"]
synonym: "rhabdomyosarcoma, spindle cell/sclerosing type" EXACT []
synonym: "sclerosing rhabdomyosarcoma" EXACT []
synonym: "spindle cell/sclerosing rhabdomyosarcoma" EXACT []
synonym: "Synonym Rhabdomyosarcoma, spindle cell/sclerosing type" EXACT []
xref: ICDO:8912/3
xref: NCI:C121654
xref: NCI:C6519
is_a: DOID:3247 ! rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:3261
name: hyper IgE recurrent infection syndrome 1
alt_id: MIM:147060
def: "A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. (DO)" [https://www.niaid.nih.gov/diseases-conditions/hyper-immunoglobulin-e-syndrome-hies "DO"]
synonym: "autosomal dominant HIES" EXACT []
synonym: "Buckley syndrome" EXACT []
synonym: "Buckley syndromes" EXACT []
synonym: "HIES1" EXACT []
synonym: "hyper-IgE recurrent infection syndrome 1, autosomal dominant" EXACT []
synonym: "hyper-IgE recurrent infection syndrome, autosomal dominant" EXACT []
synonym: "hyper-IgE syndrome 1, autosomal dominant, with recurrent infections" EXACT []
synonym: "hyper-IgE syndrome, autosomal dominant" EXACT []
synonym: "hyper Immunoglobulin E syndrome, autosomal dominant" EXACT []
synonym: "Job's syndrome" EXACT []
synonym: "Job-Buckley syndrome" EXACT []
synonym: "Job Buckley syndromes" EXACT []
synonym: "Jobs syndrome" EXACT []
synonym: "Job syndrome" EXACT []
synonym: "Job syndromes" EXACT []
synonym: "STAT3-RELATED CONDITIONS" BROAD []
xref: EFO:0003775
xref: GARD:6800
xref: MESH:C567925
xref: MONDO:0007818
xref: NCI:C126342
xref: NCI:C126343
xref: ORDO:2314
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080545 ! hyper IgE syndrome
creation_date: 2019-08-30T08:12:29Z

[Term]
id: DOID:3262
name: phagocyte bactericidal dysfunction
def: "A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. (DO)" [http://en.wikipedia.org/wiki/Phagocyte_bactericidal_dysfunction "DO"]
synonym: "phagocyte bactericidal dysfunctions" EXACT []
synonym: "phagocytic dysfunction" EXACT []
xref: EFO:0007433
xref: MESH:D010585
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:3263
name: piebaldism
alt_id: MIM:172800
def: "An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32975012/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/15485525 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1717985 "DO"]
comment: DO: This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012).
synonym: "cutaneous albinism" EXACT []
synonym: "partial albinism" EXACT []
synonym: "PBT" EXACT []
synonym: "PIEBALDISM, PROGRESSIVE" NARROW []
synonym: "PIEBALDISM WITH SENSORINEURAL DEAFNESS" NARROW []
synonym: "piebald trait" EXACT []
xref: GARD:4344
xref: ICD10CM:E70.39
xref: MESH:D016116
xref: NCI:C85009
xref: ORDO:2884
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9001386 ! Albinism

[Term]
id: DOID:3264
name: subacute leukemia
def: "A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. (DO)" [http://www.wrongdiagnosis.com/medical/subacute.htm "DO"]
xref: ICD9CM:208.2
is_a: DOID:1240 ! leukemia
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:3265
name: chronic granulomatous disease
def: "A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. (DO)" [http://en.wikipedia.org/wiki/Chronic_granulomatous_disease "DO", https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/ "DO", https://rarediseases.org/rare-diseases/chronic-granulomatous-disease/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK99496/ "DO"]
synonym: "autosomal recessive chronic granulomatous disease" EXACT []
synonym: "Bridges-Good syndrome" EXACT []
synonym: "CGD" EXACT []
synonym: "chronic granulomatous diseases" EXACT []
synonym: "congenital dysphagocytosis" EXACT []
synonym: "Quie syndrome" EXACT []
xref: EFO:0000338
xref: GARD:6100
xref: ICD10CM:D71
xref: MESH:D006105
xref: MIM:PS306400
xref: MONDO:0018305
xref: NCI:C26788
xref: ORDO:379
is_a: DOID:3262 ! phagocyte bactericidal dysfunction

[Term]
id: DOID:3267
name: mucinous ovarian cystadenoma
def: "An ovarian cystadenoma that is characterized by the presence of mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22476372 "DO"]
synonym: "mucinous cystadenoma of ovary" EXACT [SNOMEDCT_2005_07_31:119422004]
xref: NCI:C4512
is_a: DOID:3269 ! ovarian cystadenoma

[Term]
id: DOID:3269
name: ovarian cystadenoma
def: "An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27244785 "DO"]
synonym: "cystoma serosum simplex" EXACT []
synonym: "simple cystoma of ovary" EXACT []
synonym: "simple cystoma of the ovary" EXACT []
xref: EFO:0002511
xref: NCI:C4060
is_a: DOID:0060112 ! ovarian benign neoplasm
is_a: DOID:9002755 ! Benign Ovarian Mucinous Tumor

[Term]
id: DOID:327
name: syringomyelia
def: "Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. The cavities are lined by dense, gliogenous tissue and may be associated with SPINAL CORD NEOPLASMS; spinal cord traumatic injuries; and vascular malformations. Syringomyelia is marked clinically by pain and PARESTHESIA, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). Lower extremity spasticity and incontinence may also develop. (From Adams et al., Principles of Neurology, 6th ed, p1269)" [MESH:D013595]
synonym: "Hydrosyringomyelia" EXACT []
synonym: "hydrosyringomyelias" EXACT []
synonym: "Morvan's Disease" EXACT []
synonym: "Morvan's Diseases" EXACT []
synonym: "Morvan Disease" EXACT []
synonym: "Morvan Diseases" EXACT []
synonym: "Morvans Disease" EXACT []
synonym: "Myelosyringoses" EXACT []
synonym: "Myelosyringosis" EXACT []
synonym: "Syringomyelias" EXACT []
synonym: "syringomyelus" EXACT []
xref: GARD:7725
xref: MESH:D013595
xref: NCI:C85179
xref: ORDO:3280
is_a: DOID:319 ! spinal cord disease

[Term]
id: DOID:3274
name: proliferative type fibrocystic change of breast
def: "A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34967547/ "DO"]
synonym: "fibrocystic change, proliferative type with atypia" EXACT []
synonym: "Fibrocystic disease, Proliferative type with Atypia" EXACT []
synonym: "Proliferating Lesion of breast without Atypia" EXACT []
synonym: "proliferating lesion of the breast without atypia" EXACT []
synonym: "proliferative fibrocystic change" EXACT []
xref: NCI:C8365
is_a: DOID:10354 ! breast fibrocystic disease

[Term]
id: DOID:3275
name: thymoma
def: "A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus. (DO)" [http://cancergenome.nih.gov/cancersselected/Thymoma "DO", http://en.wikipedia.org/wiki/Thymoma "DO", http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1 "DO"]
synonym: "thymomas" EXACT []
xref: EFO:1000581
xref: ICDO:8580/3
xref: MESH:D013945
xref: NCI:C198577
xref: NCI:C3411
is_a: DOID:3277 ! thymus cancer
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:3277
name: thymus cancer
def: "An immune system cancer located_in the thymus. (DO)" [http://en.wikipedia.org/wiki/Thymus "DO"]
synonym: "cancer of the thymus" EXACT []
synonym: "cancer of thymus" EXACT []
synonym: "thymic cancer" EXACT []
synonym: "thymic cancers" EXACT []
synonym: "thymus cancers" EXACT []
xref: ICD10CM:C37
xref: ICD9CM:164.0
xref: NCI:C4962
is_a: DOID:0060073 ! lymphatic system cancer
is_a: DOID:170 ! endocrine gland cancer
is_a: DOID:533 ! thymus gland disease
is_a: DOID:9005161 ! Thymus Neoplasms
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:3278
name: encapsulated thymoma
xref: NCI:C7386
is_a: DOID:3275 ! thymoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3279
name: spindle cell thymoma
synonym: "medullary thymoma" EXACT []
xref: NCI:C6454
is_a: DOID:3275 ! thymoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3280
name: mixed type thymoma
synonym: "type AB thymoma" EXACT []
xref: EFO:1000582
xref: NCI:C6885
is_a: DOID:3275 ! thymoma

[Term]
id: DOID:3281
name: combined thymoma
is_a: DOID:3275 ! thymoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3282
name: thymoma type B
def: "A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/ "DO"]
synonym: "dendritic cell thymoma" EXACT []
synonym: "epithelioid thymoma" EXACT []
xref: NCI:C7114
xref: ORDO:263317
is_a: DOID:3275 ! thymoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3283
name: invasive malignant thymoma
synonym: "infiltrating thymoma" EXACT []
xref: NCI:C6453
xref: NCI:C7904
is_a: DOID:3275 ! thymoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3284
name: thymic carcinoma
def: "A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1 "DO"]
synonym: "malignant thymoma" EXACT []
synonym: "Thymic Undifferentiated Carcinoma" NARROW []
xref: EFO:1000576
xref: EFO:1000580
xref: ICDO:8586/3
xref: NCI:C60470
xref: NCI:C7612
xref: ORDO:99868
is_a: DOID:305 ! carcinoma
is_a: DOID:3277 ! thymus cancer

[Term]
id: DOID:3292
name: mpox
def: "A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus, which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy. (DO)" [http://www.cdc.gov/ncidod/monkeypox/factsheet2.htm "DO", https://www.who.int/news/item/28-11-2022-who-recommends-new-name-for-monkeypox-disease "DO"]
comment: November 2022 WHO name update.
synonym: "monkey pox" EXACT []
synonym: "monkeypox" EXACT []
xref: GARD:10722
xref: ICD10CM:B04
xref: ICD9CM:059.01
xref: MESH:D045908
xref: NCI:C128421
is_a: DOID:8729 ! milker's nodule
is_a: DOID:9001374 ! Primate Diseases
is_a: DOID:9004990 ! Rodent Diseases

[Term]
id: DOID:3298
name: vaccinia
def: "A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches. (DO)" [http://en.wikipedia.org/wiki/Vaccinia "DO", https://www.cdc.gov/smallpox/clinicians/vaccines.html "DO"]
synonym: "vaccinia infection" EXACT []
synonym: "vaccinia infections" EXACT []
synonym: "Vaccinias" EXACT []
synonym: "vaccinia virus infection" EXACT []
synonym: "vaccinia virus infections" EXACT []
xref: MESH:D014615
is_a: DOID:8729 ! milker's nodule

[Term]
id: DOID:3301
name: gonadoblastoma
alt_id: MIM:424500
def: "A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells). (DO)" [http://en.wikipedia.org/wiki/Gonadoblastoma "DO"]
synonym: "gonadoblastomas" EXACT []
xref: ICDO:9073/1
xref: MESH:D018238
xref: NCI:C3754
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:0070003 ! blastoma
is_a: DOID:14448 ! 46,XY sex reversal
is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms
is_a: DOID:9005959 ! Gonadal Tissue Neoplasms

[Term]
id: DOID:3302
name: chordoma
alt_id: MIM:215400
def: "A notochordal cancer that derives_from cellular remnants of the notochord. (DO)" [http://en.wikipedia.org/wiki/Chordoma "DO"]
synonym: "CHDM" EXACT []
synonym: "chordomas" EXACT []
synonym: "chordoma, susceptibility to" RELATED []
synonym: "notochordoma" EXACT []
xref: EFO:0000334
xref: GARD:1303
xref: MESH:D002817
xref: MONDO:0008978
xref: NCI:C2947
xref: ORDO:178
is_a: DOID:3303 ! notochordal cancer
is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms

[Term]
id: DOID:3303
name: notochordal cancer
def: "An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. (DO)" [http://en.wikipedia.org/wiki/Notochord "DO"]
synonym: "notochordal tumor" RELATED []
xref: NCI:C7063
is_a: DOID:184 ! bone cancer

[Term]
id: DOID:3304
name: germinoma
def: "A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. (DO)" [http://en.wikipedia.org/wiki/Germinoma "DO", https://en.wikipedia.org/wiki/Germinoma "DO"]
synonym: "germinomas" EXACT []
xref: ICDO:9064/3
xref: MESH:D018237
xref: NCI:C3753
is_a: DOID:1319 ! brain cancer
is_a: DOID:2994 ! germ cell cancer

[Term]
id: DOID:3305
name: teratocarcinoma
def: "A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. (DO)" [http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed "DO"]
synonym: "mixed embryonal carcinoma and teratoma" EXACT []
synonym: "teratocarcinomas" EXACT []
xref: ICDO:9081/3
xref: MESH:D018243
xref: NCI:C129859
xref: NCI:C3756
is_a: DOID:154 ! mixed cell type cancer
is_a: DOID:3095 ! germ cell and embryonal cancer
is_a: DOID:3306 ! mixed germ cell cancer

[Term]
id: DOID:3306
name: mixed germ cell cancer
def: "A germ cell cancer that occurs in many forms. (DO)" [http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed "DO"]
synonym: "mixed germ cell neoplasm" EXACT []
synonym: "mixed germ cell tumor" EXACT []
synonym: "mixed germ cell tumour" EXACT []
synonym: "mixed teratoma and Seminoma" EXACT []
xref: ICDO:9085/3
xref: NCI:C4290
xref: NCI:C9010
is_a: DOID:2994 ! germ cell cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:3307
name: teratoma
def: "A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. (DO)" [http://en.wikipedia.org/wiki/Teratoma "DO"]
synonym: "dysembryoma" EXACT []
synonym: "dysembryomas" EXACT []
synonym: "teratoid tumor" EXACT []
synonym: "teratoid tumors" EXACT []
synonym: "teratomas" EXACT []
xref: ICDO:9080/3
xref: MESH:D013724
xref: NCI:C3403
is_a: DOID:3095 ! germ cell and embryonal cancer

[Term]
id: DOID:3308
name: embryonal carcinoma
def: "An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. (DO)" [http://en.wikipedia.org/wiki/Embryonal_carcinoma "DO"]
synonym: "embryonal carcinomas" EXACT []
synonym: "primary extragonadal embryonal carcinoma" EXACT []
xref: EFO:0004986
xref: GARD:5140
xref: ICDO:9070/3
xref: MESH:D018236
xref: NCI:C3752
xref: NCI:C8880
is_a: DOID:305 ! carcinoma
is_a: DOID:688 ! embryonal cancer

[Term]
id: DOID:3309
name: neurodermatitis
def: "A dermatitis that is characterized by chronic itching or scaling. (DO)" [https://www.mayoclinic.org/diseases-conditions/neurodermatitis/symptoms-causes/syc-20375634 "DO"]
synonym: "circumscribed neurodermatitides" EXACT []
synonym: "Circumscribed Neurodermatitis" EXACT []
synonym: "Lichen Simplex Chronicus" EXACT []
synonym: "Localized Neurodermatitides" EXACT []
synonym: "Localized Neurodermatitis" EXACT []
synonym: "neurodermatitides" EXACT []
xref: EFO:1000740
xref: MESH:D009450
xref: NCI:C111963
is_a: DOID:2723 ! dermatitis
is_a: DOID:9004383 ! Eczematous Skin Diseases

[Term]
id: DOID:331
name: central nervous system disease
def: "A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. (DO)" [http://en.wikipedia.org/wiki/Central_nervous_system_disease "DO"]
synonym: "central nervous system diseases" EXACT []
synonym: "Central Nervous System Disorders" EXACT []
synonym: "CNS Disease" EXACT []
synonym: "CNS Diseases" EXACT []
synonym: "CNS DISORDER" EXACT []
xref: EFO:0009386
xref: ICD10CM:G96.9
xref: MESH:D002493
xref: NCI:C2934
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:3310
name: atopic dermatitis
def: "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. (DO)" [http://en.wikipedia.org/wiki/Atopic_dermatitis "DO"]
synonym: "allergic dermatitis" EXACT []
synonym: "ATOD" EXACT []
synonym: "atopic dermatitides" EXACT []
synonym: "atopic eczema" EXACT []
synonym: "atopic neurodermatitides" EXACT []
synonym: "atopic neurodermatitis" EXACT []
synonym: "Besnier's prurigo" EXACT []
synonym: "disseminated neurodermatitides" EXACT []
synonym: "disseminated neurodermatitis" EXACT []
synonym: "infantile eczema" NARROW []
synonym: "recalcitrant atopic dermatitis" NARROW []
xref: EFO:0000274
xref: ICD10CM:L20
xref: MESH:D003876
xref: MIM:PS603165
is_a: DOID:3042 ! allergic contact dermatitis
is_a: DOID:9002850 ! Immediate Hypersensitivity
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:3312
name: bipolar disorder
def: "A mood disorder that involves alternating periods of mania and depression. (DO)" [http://en.wikipedia.org/wiki/Mood_disorder "DO"]
synonym: "bipolar affective disorder" EXACT []
synonym: "BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO" RELATED []
synonym: "bipolar affective psychoses" EXACT []
synonym: "bipolar affective psychosis" EXACT []
synonym: "bipolar and related disorders" EXACT []
synonym: "bipolar depression" EXACT []
synonym: "bipolar disorder manic phase" EXACT []
synonym: "bipolar disorders" EXACT []
synonym: "BPAD" EXACT []
synonym: "depressive-manic psych." EXACT []
synonym: "Mania" EXACT []
synonym: "manias" EXACT []
synonym: "manic bipolar affective disorder" EXACT []
synonym: "manic bipolar I disorder" EXACT []
synonym: "manic depression" EXACT []
synonym: "manic depressive disorder" EXACT []
synonym: "manic-depressive psychoses" EXACT []
synonym: "manic depressive psychosis" EXACT []
synonym: "manic disorder" EXACT []
synonym: "manic disorders" EXACT []
synonym: "manic state" EXACT []
synonym: "manic states" EXACT []
synonym: "mixed bipolar disorder" EXACT []
xref: EFO:0000289
xref: GARD:10249
xref: ICD10CM:F31
xref: ICD9CM:296.40
xref: ICD9CM:296.60
xref: ICD9CM:296.80
xref: MESH:D000068105
xref: MESH:D001714
xref: MONDO:0004985
xref: NCI:C34423
xref: NCI:C34424
xref: NCI:C34805
is_a: DOID:3324 ! mood disorder

[Term]
id: DOID:3314
name: angiomyolipoma
def: "A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells. (DO)" [http://en.wikipedia.org/wiki/Angiomyolipoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/9503504 "DO"]
synonym: "angiomyolipomas" EXACT []
xref: ICDO:8860/0
xref: MESH:D018207
xref: NCI:C3734
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:2643 ! perivascular epithelioid cell tumor
is_a: DOID:9008378 ! Adipose Tissue Neoplasms

[Term]
id: DOID:3315
name: lipoma
def: "A cell type benign neoplasm that is composed of lipocytes. (DO)" [http://en.wikipedia.org/wiki/Benign_tumor "DO"]
synonym: "Atypical Lipoma" EXACT []
synonym: "atypical lipomas" EXACT []
synonym: "benign lipomatous tumor" EXACT []
synonym: "benign tumor of adipose tissue" EXACT []
synonym: "Fatty Tumor" EXACT []
synonym: "Fatty Tumors" EXACT []
synonym: "Hibernoma" EXACT []
synonym: "Hibernomas" EXACT []
synonym: "Lipomas" EXACT []
synonym: "Lipoma, somatic" NARROW []
synonym: "lipomata" EXACT []
synonym: "lipomatas" EXACT []
synonym: "LIPOMATOSIS, FAMILIAL MULTIPLE" EXACT []
synonym: "lipomatous neoplasm" EXACT []
synonym: "lipomatous tumor" EXACT []
synonym: "tumor of adipose tissue" EXACT []
xref: EFO:0000759
xref: ICD10CM:D17
xref: ICD10CM:D17.9
xref: ICD9CM:214
xref: ICDO:8850/0
xref: MESH:D008067
xref: NCI:C21634
xref: NCI:C3192
xref: NCI:C3702
xref: NCI:C4248
xref: NCI:C4502
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:0060123 ! connective tissue benign neoplasm
is_a: DOID:9008378 ! Adipose Tissue Neoplasms

[Term]
id: DOID:3316
name: perivascular tumor
synonym: "malignant perivascular cancer" EXACT []
xref: NCI:C6528
xref: NCI:C6530
is_a: DOID:175 ! vascular cancer
is_a: DOID:201 ! connective tissue cancer
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:3317
name: hepatic angiomyolipoma
xref: NCI:C27485
is_a: DOID:3314 ! angiomyolipoma
is_a: DOID:916 ! liver benign neoplasm
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:3318
name: epithelioid type angiomyolipoma
synonym: "epithelioid angiomyolipoma" EXACT []
xref: NCI:C38151
is_a: DOID:3314 ! angiomyolipoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3319
name: lymphangioleiomyomatosis
alt_id: MIM:606690
def: "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31610670/ "DO"]
synonym: "LAM" EXACT []
synonym: "lung lymphangioleiomyomatosis" EXACT []
synonym: "lymphangioleiomyomatoses" EXACT []
synonym: "lymphangiomyomatoses" EXACT []
synonym: "lymphangiomyomatosis" EXACT []
synonym: "pulmonary lymphangioleiomyomatosis" EXACT []
synonym: "somatic lymphangioleiomyomatosis" NARROW []
xref: EFO:1000334
xref: GARD:3319
xref: ICDO:9174/1
xref: MESH:D018192
xref: MONDO:0011705
xref: NCI:C3725
xref: NCI:C38153
xref: ORDO:538
is_a: DOID:2643 ! perivascular epithelioid cell tumor
is_a: DOID:850 ! lung disease
is_a: DOID:9007091 ! Lymphangiomyoma

[Term]
id: DOID:332
name: amyotrophic lateral sclerosis
def: "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm "DO"]
synonym: "ALS" EXACT []
synonym: "AMYOTROPHIC LATERAL SCLEROSIS/FRONTOTEMPORAL DEMENTIA" NARROW []
synonym: "Amyotrophic Lateral Sclerosis In Males, Susceptibility To" RELATED []
synonym: "AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1, SUSCEPTIBILITY TO" RELATED []
synonym: "Amyotrophic Lateral Sclerosis, Susceptibility To" RELATED []
synonym: "AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL" EXACT []
synonym: "amyotrophic lateral sclerosis with dementia" NARROW []
synonym: "bulbar motor neuron disease" EXACT []
synonym: "Charcot disease" EXACT []
synonym: "familial amyotrophic lateral sclerosis" NARROW []
synonym: "Gehrig's Disease" EXACT []
synonym: "Gehrig Disease" EXACT []
synonym: "Gehrigs Disease" EXACT []
synonym: "Lou Gehrig's disease" EXACT []
synonym: "Lou Gehrig disease" EXACT []
synonym: "Lou-Gehrigs disease" EXACT []
synonym: "motor neuron disease, amyotrophic lateral sclerosis" EXACT []
xref: EFO:0000253
xref: EFO:0001356
xref: EFO:0001357
xref: GARD:5786
xref: ICD10CM:G12.21
xref: ICD9CM:335.20
xref: MESH:D000690
xref: MIM:PS105400
xref: MONDO:0004976
xref: NCI:C34373
xref: ORDO:803
is_a: DOID:319 ! spinal cord disease
is_a: DOID:9001897 ! MOTOR NEURON ATROPHY
is_a: DOID:9004479 ! TDP-43 Proteinopathies

[Term]
id: DOID:3320
name: Tay-Sachs disease
alt_id: MIM:272800
alt_id: OMIA:001461
def: "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. (DO)" [https://medlineplus.gov/genetics/condition/tay-sachs-disease/ "DO", https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease "DO", https://www.ncbi.nlm.nih.gov/books/NBK1218/ "DO"]
synonym: "amaurotic familial idiocy" EXACT []
synonym: "B Variant GM2 Gangliosidosis" EXACT []
synonym: "Deficiency Disease Hexosaminidase A" EXACT []
synonym: "Gangliosidosis G(M2), Type I" EXACT []
synonym: "Gangliosidosis, GM2, type I (B variant)" EXACT []
synonym: "GM2-GANGLIOSIDE ACCUMULATION" EXACT []
synonym: "GM2-gangliosidoses, variant B" EXACT []
synonym: "Gm2-Gangliosidosis, Chronic" EXACT []
synonym: "Gm2-Gangliosidosis, Juvenile" EXACT []
synonym: "GM2 Gangliosidosis, Type 1" EXACT []
synonym: "GM2-gangliosidosis type I" EXACT []
synonym: "GM2-GANGLIOSIDOSIS, VARIANT B1" NARROW []
synonym: "HexA Deficiency" EXACT []
synonym: "HEXA DEFICIENCY TAY-SACHS DISEASE, JUVENILE" NARROW []
synonym: "Hexa, dn Allele" RELATED []
synonym: "Hexosaminidase A Deficiency" EXACT []
synonym: "HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE" NARROW []
synonym: "Hexosaminidase alpha Subunit Deficiency (Variant B)" EXACT []
synonym: "pseudodeficiency of beta-hexosaminidase A" EXACT []
synonym: "Tay-Sachs disease, juvenile/adult" NARROW []
synonym: "Tay-Sachs disease, pseudo-AB variant" NARROW []
synonym: "Tay-Sachs disease, variant B" NARROW []
synonym: "Tay-Sachs disease, variant B1" NARROW []
synonym: "Tay-Sachs sphingolipidosis" EXACT []
synonym: "TSD" EXACT []
xref: GARD:7737
xref: ICD10CM:E75.02
xref: MESH:D013661
xref: NCI:C85184
is_a: DOID:3321 ! GM2 gangliosidosis

[Term]
id: DOID:3321
name: GM2 gangliosidosis
def: "A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes. (DO)" [https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant "DO"]
synonym: "G(M2) Gangliosidoses" EXACT []
synonym: "GM2 gangliosidose" EXACT []
synonym: "GM2 gangliosidoses" EXACT []
synonym: "GM2-GANGLIOSIDOSIS, LATE ONSET" NARROW []
synonym: "GM>2< gangliosidosis" EXACT []
xref: ICD10CM:E75.0
xref: MESH:D020143
is_a: DOID:2368 ! gangliosidosis

[Term]
id: DOID:3322
name: GM1 gangliosidosis
alt_id: OMIA:000402
def: "A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside. (DO)" [https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis "DO"]
synonym: "Beta-Galactosidase-1 (GLB1) Deficiency" EXACT []
synonym: "beta galactosidase 1 deficiency" EXACT []
synonym: "Beta Galactosidase 1 Deficiency Disease" EXACT []
synonym: "beta Galactosidase Deficiency" EXACT []
synonym: "Beta Galactosidosis" EXACT []
synonym: "Deficiencies, GLB1" EXACT []
synonym: "deficiency of beta-galactosidase" EXACT []
synonym: "Gangliosidosis G(M1)" EXACT []
synonym: "Generalized Gangliosidosis" EXACT []
synonym: "GLB1 deficiency" EXACT []
synonym: "GM>1< gangliosidosis" EXACT []
synonym: "Landing syndrome" EXACT []
xref: GARD:10891
xref: ICD10CM:E75.19
xref: MESH:D016537
xref: NCI:C129034
xref: NCI:C84739
is_a: DOID:2368 ! gangliosidosis

[Term]
id: DOID:3323
name: Sandhoff disease
alt_id: MIM:268800
alt_id: OMIA:001462
def: "A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13. (DO)" [https://ghr.nlm.nih.gov/condition/sandhoff-disease "DO"]
synonym: "adult Sandhoff disease" EXACT []
synonym: "beta-hexosaminidase-beta-subunit deficiencies" EXACT []
synonym: "beta Hexosaminidase beta Subunit Deficiency" EXACT []
synonym: "gangliosidosis G(M2), type II" EXACT []
synonym: "Gangliosidosis, GM2, type II (Sandhoff or variant 0)" EXACT []
synonym: "GM2 Gangliosidosis, Type 2" EXACT []
synonym: "Hexosaminidase A and B Deficiency Disease" EXACT []
synonym: "HEXOSAMINIDASE B (PARIS)" RELATED []
synonym: "Hexosaminidases A And B Deficiency" EXACT []
synonym: "Juvenile Sandhoff Disease" EXACT []
synonym: "Sandhoff's Disease" EXACT []
synonym: "Sandhoff Disease, Chronic" EXACT []
synonym: "Sandhoff Jatzkewitz disease" EXACT []
synonym: "Sandhoff Jatzkewitz Pilz Disease" EXACT []
synonym: "Sandhoffs Disease" EXACT []
synonym: "Total Hexosaminidase Deficiencies" EXACT []
synonym: "total hexosaminidase deficiency" EXACT []
synonym: "type II GM2-gangliosidoses" EXACT []
synonym: "type II GM2-gangliosidosis" EXACT []
xref: GARD:7604
xref: ICD10CM:E75.01
xref: MESH:D012497
xref: NCI:C85052
xref: ORDO:796
is_a: DOID:3321 ! GM2 gangliosidosis

[Term]
id: DOID:3324
name: mood disorder
def: "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature. (DO)" [https://en.wikipedia.org/wiki/Mood_disorder "DO"]
synonym: "affective disorder" EXACT []
synonym: "affective disorders" EXACT []
synonym: "episodic mood disorder" EXACT []
synonym: "mood disorders" EXACT []
xref: EFO:0004247
xref: ICD10CM:F39
xref: MESH:D019964
xref: NCI:C92200
is_a: DOID:1561 ! cognitive disorder

[Term]
id: DOID:3325
name: hyperglobulinemic purpura
def: "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years." [MESH:D011694]
synonym: "Benign Hyperglobulinemic Purpura of Waldenström" EXACT []
synonym: "Hypergammaglobulinemic Purpura of Waldenstrom" EXACT []
synonym: "Hyperglobulinemic Purpura of Waldenström" EXACT []
synonym: "hyperglobulinemic purpuras" EXACT []
synonym: "Waldenstrom Hypergammaglobulinemic Purpura" EXACT []
synonym: "Waldenstrom hyperglobulinemic purpura" EXACT []
synonym: "Waldenström Hyperglobulinemic Purpura" EXACT []
xref: EFO:1000972
xref: MESH:D011694
is_a: DOID:3326 ! purpura
is_a: DOID:484 ! vascular hemostatic disease

[Term]
id: DOID:3326
name: purpura
def: "Purplish or brownish red discoloration, easily visible through the epidermis, caused by hemorrhage into the tissues. When the size of the discolorization is >2-3 cm it is generally called Ecchymoses (ECCHYMOSIS)." [MESH:D011693]
synonym: "petechiae" EXACT []
synonym: "purpuras" EXACT []
synonym: "purpuric disorder" EXACT []
xref: ICD10CM:D69.2
xref: MESH:D011693
xref: NCI:C78787
is_a: DOID:1247 ! blood coagulation disease
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:9007472 ! Skin Manifestations
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:3327
name: partial motor epilepsy
alt_id: RDO:0007447
def: "A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur." [MESH:D020938]
synonym: "focal clonic seizure" EXACT []
synonym: "Focal Clonic Seizures" EXACT []
synonym: "Focal Motor Epilepsy" EXACT []
synonym: "focal motor seizure" EXACT []
synonym: "Focal Tonic Seizure" EXACT []
synonym: "Focal Tonic Seizures" EXACT []
synonym: "Hemimotor Epilepsies" EXACT []
synonym: "Hemimotor Epilepsy" EXACT []
synonym: "Hemimotor Seizure Disorder" EXACT []
synonym: "Hemimotor Seizure Disorders" EXACT []
synonym: "Motor Partial Seizure Disorder" EXACT []
synonym: "Motor Seizure Disorder" EXACT []
synonym: "Motor Seizure Disorders" EXACT []
synonym: "Versive Seizure" EXACT []
synonym: "versive seizures" EXACT []
xref: EFO:1001089
xref: MESH:D020938
xref: NCI:C50847
is_a: DOID:2234 ! focal epilepsy

[Term]
id: DOID:3328
name: temporal lobe epilepsy
def: "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes. (DO)" [https://en.wikipedia.org/wiki/Temporal_lobe_epilepsy "DO", MESH:D004833]
synonym: "childhood benign psychomotor epilepsy" EXACT []
synonym: "lateral temporal epilepsies" EXACT []
synonym: "lateral temporal epilepsy" EXACT []
synonym: "temporal lobe epilepsies" EXACT []
synonym: "TLE" EXACT []
synonym: "uncinate epilepsies" EXACT []
synonym: "uncinate epilepsy" EXACT []
xref: EFO:0000773
xref: MESH:D004833
xref: MIM:PS600512
xref: NCI:C177244
is_a: DOID:2234 ! focal epilepsy

[Term]
id: DOID:3329
name: benign epilepsy with centrotemporal spikes
alt_id: MIM:117100
def: "A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19172991/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK534845/ "DO"]
synonym: "BCECTS" EXACT []
synonym: "BECTS" EXACT []
synonym: "benign childhood epilepsy with centrotemporal spike" EXACT []
synonym: "Benign Childhood Epilepsy With Centro Temporal Spikes" EXACT []
synonym: "Benign Epilepsy Of Childhood With Centrotemporal Spikes" EXACT []
synonym: "Benign Rolandic Epilepsy" EXACT []
synonym: "Benign Rolandic Epilepsy of Childhood" EXACT []
synonym: "centralopathic epilepsies" EXACT []
synonym: "Centralopathic Epilepsy" EXACT []
synonym: "Centrotemporal Epilepsies" EXACT []
synonym: "Centrotemporal Epilepsy" EXACT []
synonym: "ECT" EXACT []
synonym: "Rolandic Epilepsies" EXACT []
synonym: "Rolandic Epilepsy" EXACT []
synonym: "Rolands Epilepsy" EXACT []
synonym: "sylvan seizures" EXACT []
synonym: "Sylvian Epilepsy" EXACT []
synonym: "temporal-central focal epilepsy" EXACT []
xref: GARD:10287
xref: MESH:D019305
xref: ORDO:1945
is_a: DOID:0050704 ! childhood electroclinical syndrome
is_a: DOID:2234 ! focal epilepsy

[Term]
id: DOID:3330
name: partial sensory epilepsy
def: "A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)." [MESH:D020937]
synonym: "Focal Sensory Seizure" EXACT []
synonym: "Focal Sensory Seizures" EXACT []
synonym: "Gustatory Partial Seizure" EXACT []
synonym: "Gustatory Partial Seizures" EXACT []
synonym: "Olfactory Partial Seizure" EXACT []
synonym: "Olfactory Partial Seizures" EXACT []
synonym: "Partial Sensory Seizure" EXACT []
synonym: "Partial Sensory Seizures" EXACT []
synonym: "Sensory Epilepsy" EXACT []
synonym: "Sensory Focal Seizure Disorder" EXACT []
synonym: "Sensory Partial Seizure Disorder" EXACT []
synonym: "Sensory Seizure Disorder" EXACT []
synonym: "Sensory Seizure Disorders" EXACT []
synonym: "Simple Partial Seizures, Special Sensory Symptoms" EXACT []
synonym: "Vertiginous Partial Seizure" EXACT []
synonym: "Vertiginous Partial Seizures" EXACT []
synonym: "Visual Partial Seizure" EXACT []
synonym: "Visual Partial Seizures" EXACT []
xref: EFO:1001090
xref: MESH:D020937
xref: RDO:0007446
is_a: DOID:2234 ! focal epilepsy

[Term]
id: DOID:3331
name: frontal lobe epilepsy
def: "A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/epilepsy/focal-epilepsy "DO"]
synonym: "anterior fronto-polar epilepsies" EXACT []
synonym: "Anterior Fronto-Polar Epilepsy" EXACT []
synonym: "Benign Frontal Childhood Epilepsy" EXACT []
synonym: "cingulate epilepsies" EXACT []
synonym: "Cingulate Epilepsy" EXACT []
synonym: "Frontal Lobe Epilepsies" EXACT []
synonym: "Opercular Epilepsies" EXACT []
synonym: "Opercular Epilepsy" EXACT []
synonym: "Orbito-Frontal Epilepsies" EXACT []
synonym: "Orbito-Frontal Epilepsy" EXACT []
synonym: "supplementary motor epilepsies" EXACT []
synonym: "supplementary motor epilepsy" EXACT []
xref: MESH:D017034
is_a: DOID:2234 ! focal epilepsy

[Term]
id: DOID:3332
name: haemonchiasis
def: "A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. (DO)" [http://en.wikipedia.org/wiki/Haemonchus_contortus "DO"]
synonym: "haemonchiases" EXACT []
xref: EFO:0007293
xref: MESH:D006188
is_a: DOID:1255 ! trichostrongyloidiasis

[Term]
id: DOID:334
name: histrionic personality disorder
def: "A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood. (DO)" [http://en.wikipedia.org/wiki/Histrionic_personality_disorder "DO"]
synonym: "histrionic personality disorders" EXACT []
synonym: "hysterical personalities" EXACT []
synonym: "Hysterical Personality" EXACT []
xref: ICD10CM:F60.4
xref: ICD9CM:301.5
xref: MESH:D006677
xref: NCI:C92634
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:3341
name: osteitis fibrosa
def: "A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. (DO)" [http://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001252.htm "DO"]
synonym: "hyperparathyroid bone disease" EXACT []
synonym: "osteitis fibrosa cystica" EXACT []
synonym: "osteitis fibrosa cystica generalisata" EXACT []
synonym: "Recklinghausen's disease of bone" EXACT []
synonym: "Recklinghausen Disease, Bone" EXACT []
synonym: "Recklinghausen Disease of Bone" EXACT []
synonym: "Recklinghausens Disease, Bone" EXACT []
synonym: "von Recklinghausen's bone disease" EXACT []
xref: EFO:0007413
xref: MESH:D010002
xref: NCI:C34875
is_a: DOID:0080011 ! bone resorption disease
is_a: DOID:9007819 ! Endocrine Bone Diseases

[Term]
id: DOID:3342
name: bone inflammation disease
def: "A bone disease that results_in inflammation of the located_in bone. (DO)" [http://en.wikipedia.org/wiki/Osteitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Osteitis "DO"]
synonym: "Bone Inflammation" EXACT []
synonym: "bone inflammatory disease" EXACT []
synonym: "inflammatory disorder of bone" EXACT []
synonym: "osteitis" EXACT []
xref: MESH:D010000
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:3343
name: glycoproteinosis
def: "A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). (DO)" [http://en.wikipedia.org/wiki/Sialidosis "DO", https://en.wikipedia.org/wiki/Glycoproteinosis "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract "DO"]
synonym: "cherry red spot myoclonus syndrome" EXACT []
synonym: "ganglioside sialidase deficiency disease" EXACT []
synonym: "glycoprotein neuraminidase deficiencies" EXACT []
synonym: "Glycoprotein Neuraminidase Deficiency" EXACT []
synonym: "Mucolipidosis Type III" EXACT []
synonym: "Pseudo Hurler Polydystrophy" EXACT []
synonym: "Psuedo Hurler Disease" EXACT []
synonym: "psuedo-Hurler diseases" EXACT []
synonym: "Sialidoses" EXACT []
synonym: "Sialidosis" EXACT []
synonym: "sialolipidoses" EXACT []
synonym: "sialolipidosis" EXACT []
synonym: "type III mucolipidoses" EXACT []
xref: GARD:10670
xref: NCI:C61267
is_a: DOID:0080488 ! mucolipidosis
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:9002278 ! Metabolic Bone Diseases
is_a: DOID:9008012 ! Lysosomal Storage Diseases, Nervous System

[Term]
id: DOID:3345
name: xanthomatosis
alt_id: MIM:602247
def: "A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. (DO)" [http://en.wikipedia.org/wiki/Xanthoma "DO"]
synonym: "Xanthelasmas, periorbital" NARROW []
synonym: "xanthelasmatosis" EXACT []
synonym: "Xanthoma" EXACT []
synonym: "xanthomas" EXACT []
synonym: "xanthomatoses" EXACT []
xref: EFO:0003075
xref: MESH:D014973
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:3347
name: osteosarcoma
alt_id: MIM:259500
def: "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). (DO)" [http://en.wikipedia.org/wiki/Osteosarcoma "DO", http://www.cancer.gov/dictionary?cdrid=45395 "DO"]
synonym: "OSRC" EXACT []
synonym: "OSTEOBLASTIC OSTEOSARCOMA" EXACT []
synonym: "osteogenic sarcoma" EXACT []
synonym: "osteogenic sarcomas" EXACT []
synonym: "osteoid sarcoma" EXACT []
synonym: "osteosarcomas" EXACT []
synonym: "osteosarcoma, somatic" NARROW []
synonym: "osteosarcoma tumor" EXACT []
synonym: "osteosarcoma tumors" EXACT []
synonym: "skeletal sarcoma" EXACT []
xref: EFO:0000637
xref: GARD:7284
xref: ICDO:9180/3
xref: MESH:D012516
xref: NCI:C120045
xref: NCI:C24021
xref: NCI:C60487
xref: NCI:C9145
xref: ORDO:668
is_a: DOID:0080639 ! bone sarcoma
is_a: DOID:9007603 ! Bone Tissue Neoplasms

[Term]
id: DOID:3350
name: mesenchymal cell neoplasm
def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. (DO)" [http://en.wikipedia.org/wiki/Mesenchymal_cell "DO", http://www.ncbi.nlm.nih.gov/books/NBK9549/ "DO"]
synonym: "benign miscellaneous mesenchymal tumor" EXACT []
synonym: "mesenchymal tumor" EXACT []
xref: NCI:C6587
xref: NCI:C7059
is_a: DOID:0050687 ! cell type cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:3351
name: bone angioendothelial sarcoma
synonym: "osseous hemangiosarcoma" EXACT []
xref: NCI:C6479
is_a: DOID:0080639 ! bone sarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:3352
name: malignant fibrous histiocytoma of bone
def: "The most commonly diagnosed soft tissue sarcoma. It is a neoplasm with a fibrohistiocytic appearance found chiefly in later adult life, with peak incidence in the 7th decade." []
synonym: "malignant fibrous histiocytoma of the bone" EXACT []
xref: NCI:C8563
is_a: DOID:1907 ! malignant fibrous histiocytoma
is_a: DOID:3347 ! osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:3354
name: fibrosarcoma of bone
def: "A bone sarcoma characterized by a herringbone or fascicular disposition of atypical, monomorphic fibroblasts and is always negative for any specific marker. (DO)" [https://link.springer.com/chapter/10.1007/978-1-4471-6578-1_29 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732833/ "DO", https://www.orthobullets.com/pathology/8031/fibrosarcoma-of-bone "DO"]
synonym: "fibrosarcoma of the bone" EXACT []
is_a: DOID:0080639 ! bone sarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:3355
name: fibrosarcoma
def: "A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. (DO)" [http://en.wikipedia.org/wiki/Fibrosarcoma "DO"]
synonym: "fibrocytic tumor" EXACT []
synonym: "fibrosarcoma of soft tissue" EXACT []
synonym: "fibrosarcomas" EXACT []
xref: EFO:0002087
xref: GARD:2327
xref: ICDO:8810/3
xref: MESH:D005354
xref: NCI:C24017
xref: NCI:C3043
xref: NCI:C60403
xref: NCI:C6605
xref: NCI:C7075
is_a: DOID:1115 ! sarcoma
is_a: DOID:201 ! connective tissue cancer
is_a: DOID:9008446 ! Fibrous Tissue Neoplasms

[Term]
id: DOID:3356
name: localized osteosarcoma
def: "An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites. (DO)" [https://www.cancer.org/cancer/types/osteosarcoma/detection-diagnosis-staging/staging.html "DO"]
synonym: "localised osteogenic sarcoma" EXACT []
synonym: "localised osteosarcoma" EXACT []
synonym: "localized osteogenic sarcoma" EXACT []
xref: NCI:C7780
is_a: DOID:3347 ! osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:3357
name: extraosseous osteosarcoma
def: "An osteosarcoma arising from the soft tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080674/ "DO"]
synonym: "extraskeletal osteogenic sarcoma" EXACT []
synonym: "extraskeletal osteosarcoma" EXACT []
xref: NCI:C8810
is_a: DOID:3347 ! osteosarcoma

[Term]
id: DOID:3360
name: multifocal osteogenic sarcoma
xref: NCI:C6470
is_a: DOID:0080639 ! bone sarcoma

[Term]
id: DOID:3361
name: childhood osteosarcoma
synonym: "pediatric osteosarcoma" EXACT []
xref: NCI:C6585
is_a: DOID:3347 ! osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:3362
name: coronary aneurysm
def: "Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE." [MESH:D003323]
synonym: "Aneurysmal lesion of coronary artery" EXACT []
synonym: "aneurysm of coronary vessels" EXACT []
synonym: "arteriovenous aneurysm of coronary vessels" EXACT []
synonym: "Coronary Aneurysms" EXACT []
xref: EFO:1000881
xref: GARD:6200
xref: ICD10CM:I25.41
xref: ICD9CM:414.11
xref: MESH:D003323
xref: NCI:C168176
is_a: DOID:9000528 ! Coronary Disease
is_a: DOID:9768 ! heart aneurysm

[Term]
id: DOID:3367
name: bone leiomyosarcoma
xref: NCI:C7154
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:3347 ! osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:3368
name: Ewing sarcoma of bone
def: "A peripheral primitive neuroectodermal tumor that is located_in bone. (DO)" [http://en.wikipedia.org/wiki/Ewing%27s_sarcoma "DO"]
synonym: "bone Ewing's sarcoma" EXACT []
synonym: "bone Ewing sarcoma" EXACT []
synonym: "bone localized Ewing's sarcoma" EXACT []
synonym: "bone localized Ewing sarcoma" EXACT []
synonym: "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor" EXACT []
synonym: "Ewing's sarcoma of bone" RELATED []
synonym: "localized skeletal Ewing's sarcoma" EXACT []
synonym: "skeletal Ewing's tumor" RELATED []
xref: NCI:C35871
xref: NCI:C4835
xref: NCI:C6623
is_a: DOID:184 ! bone cancer
is_a: DOID:3369 ! Ewing sarcoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:3369
name: Ewing sarcoma
alt_id: MIM:612219
def: "A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. (DO)" [http://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor "DO", http://www.cancer.gov/dictionary?cdrid=383924 "DO"]
synonym: "ASKIN TUMOR" NARROW []
synonym: "CD99 POSITIVE NEOPLASTIC CELLS PRESENT" RELATED []
synonym: "ES" EXACT []
synonym: "Ewing's family localized tumor" EXACT []
synonym: "Ewing's Sarcoma" EXACT []
synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT []
synonym: "Ewing's Tumor" EXACT []
synonym: "Ewings Sarcoma" EXACT []
synonym: "Ewings sarcoma-primitive neuroectodermal tumor" EXACT []
synonym: "Ewings Tumor" EXACT []
synonym: "Ewing Tumor" EXACT []
synonym: "localized Ewing's sarcoma" NARROW []
synonym: "localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor" NARROW []
synonym: "localized Ewing's tumor" NARROW []
synonym: "localized Ewing sarcoma" NARROW []
synonym: "localized peripheral primitive neuroectodermal tumor" NARROW []
synonym: "NEUROEPITHELIOMA, PERIPHERAL" NARROW []
synonym: "peripheral primitive neuroectodermal tumor" EXACT []
synonym: "PNE" NARROW []
synonym: "PNET of thoracopulmonary region" EXACT []
xref: EFO:0000173
xref: EFO:0000174
xref: GARD:6390
xref: ICDO:9364/3
xref: MESH:D012512
xref: NCI:C27901
xref: NCI:C27903
xref: NCI:C4817
xref: NCI:C7542
xref: NCI:C7806
xref: NCI:C9341
is_a: DOID:1115 ! sarcoma
is_a: DOID:201 ! connective tissue cancer

[Term]
id: DOID:337
name: spinal accessory nerve neoplasm
synonym: "neoplasm of accessory nerve" EXACT []
synonym: "XIth cranial nerve tumors" EXACT []
xref: NCI:C5829
is_a: DOID:2815 ! cranial nerve malignant neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:3371
name: chondrosarcoma
alt_id: MIM:215300
def: "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage. (DO)" [http://en.wikipedia.org/wiki/Chondrosarcoma "DO"]
synonym: "Cartilaginous cancer" EXACT []
synonym: "chondrosarcoma of bone" EXACT []
synonym: "Chondrosarcomas" EXACT []
synonym: "chondrosarcoma, somatic" NARROW []
synonym: "chondrosarcoma, sporadic" NARROW []
synonym: "primary chondrosarcoma of the bone" EXACT []
xref: EFO:0000333
xref: GARD:6004
xref: GARD:6055
xref: ICDO:9220/3
xref: MESH:D002813
xref: NCI:C24018
xref: NCI:C2946
xref: NCI:C60376
xref: NCI:C7155
is_a: DOID:0080639 ! bone sarcoma

[Term]
id: DOID:3372
name: chondroblastic osteosarcoma
synonym: "chondrosarcomatous osteogenic sarcoma" EXACT []
xref: ICDO:9181/3
xref: NCI:C4021
is_a: DOID:3347 ! osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:3373
name: parosteal osteosarcoma
def: "A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" []
synonym: "juxtacortical osteosarcoma" EXACT []
synonym: "juxtacortical osteosarcomas" EXACT []
synonym: "parosteal osteogenic sarcoma" EXACT []
xref: EFO:1001000
xref: ICDO:9192/3
xref: MESH:D018217
xref: MONDO:0006817
xref: NCI:C8969
is_a: DOID:3374 ! peripheral osteosarcoma

[Term]
id: DOID:3374
name: peripheral osteosarcoma
alt_id: RDO:9003221
synonym: "High Grade Surface Osteosarcoma" NARROW []
synonym: "surface osteosarcoma" EXACT []
xref: EFO:1000296
xref: NCI:C7134
is_a: DOID:3376 ! bone osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:3376
name: bone osteosarcoma
alt_id: DOID:8580
def: "An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. (DO)" [https://my.clevelandclinic.org/health/diseases/15041-osteosarcoma "DO"]
synonym: "osteosarcoma of bone" EXACT []
synonym: "primary osteosarcoma of bone" EXACT []
xref: NCI:C53707
is_a: DOID:3347 ! osteosarcoma

[Term]
id: DOID:3377
name: small cell osteogenic sarcoma
synonym: "round cell osteosarcoma" EXACT []
synonym: "small cell osteosarcoma" EXACT []
xref: NCI:C4023
is_a: DOID:7602 ! conventional osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:3379
name: metachronous osteosarcoma of the bone
xref: NCI:C38157
xref: RDO:9003226
is_a: DOID:3347 ! osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:3381
name: liposarcoma of bone
synonym: "liposarcoma of the bone" EXACT []
xref: NCI:C7598
is_a: DOID:3347 ! osteosarcoma
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:3382
name: liposarcoma
alt_id: DOID:3939
def: "A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities. (DO)" [http://en.wikipedia.org/wiki/Liposarcoma "DO"]
synonym: "lipomatous cancer" EXACT []
synonym: "liposarcomas" EXACT []
synonym: "malignant lipomatous tumor" EXACT []
synonym: "malignant tumor of Adipose tissue" EXACT []
xref: EFO:0000569
xref: GARD:6913
xref: ICDO:8850/3
xref: MESH:D008080
xref: NCI:C3194
xref: NCI:C4501
xref: NCI:C60434
xref: ORDO:69078
is_a: DOID:1115 ! sarcoma
is_a: DOID:201 ! connective tissue cancer
is_a: DOID:9008378 ! Adipose Tissue Neoplasms

[Term]
id: DOID:3385
name: bacterial vaginosis
def: "A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bacterial+vaginosis "DO"]
synonym: "Bacterial Vaginitides" EXACT []
synonym: "Bacterial Vaginitis" EXACT []
synonym: "Bacterial Vaginoses" EXACT []
synonym: "Nonspecific Vaginitis" EXACT []
xref: EFO:0003932
xref: MESH:D016585
xref: NCI:C116973
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:2170 ! vaginitis

[Term]
id: DOID:3388
name: periodontal disease
def: "A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth. (DO)" [https://www.nidcr.nih.gov/health-info/gum-disease/more-info "DO"]
synonym: "disease of supporting structures of teeth" EXACT []
synonym: "parodontoses" EXACT []
synonym: "parodontosis" EXACT []
synonym: "periodontal diseases" EXACT []
synonym: "periodontium disorder" EXACT []
synonym: "pyorrhea alveolaris" EXACT []
synonym: "tooth-supporting structures disease" EXACT []
xref: EFO:0010693
xref: ICD10CM:K05.6
xref: MESH:D010510
xref: MONDO:0002635
xref: NCI:C63743
is_a: DOID:1091 ! tooth disease
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:3389
name: Papillon-Lefevre disease
alt_id: MIM:245000
def: "An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14. (DO)" [https://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507741/ "DO"]
synonym: "Haim Monk Syndrome" EXACT []
synonym: "keratosis palmoplantaris with periodontopathia" EXACT []
synonym: "keratosis palmoplantar periodontopathies" EXACT []
synonym: "keratosis palmoplantar periodontopathy" EXACT []
synonym: "palmoplantar keratoderma with periodontitis" EXACT []
synonym: "PALS" EXACT []
synonym: "Papillon Lefevre syndrome" EXACT []
synonym: "Papillon-Lefvre syndrome" EXACT []
synonym: "Papillon-Lefèvre syndrome" EXACT []
synonym: "PLS" EXACT []
xref: GARD:3100
xref: MESH:D010214
xref: NCI:C84992
xref: ORDO:678
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:3388 ! periodontal disease
is_a: DOID:3390 ! palmoplantar keratosis

[Term]
id: DOID:339
name: accessory nerve disease
def: "A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve). (DO)" [https://en.wikipedia.org/wiki/Accessory_nerve_disorder "DO", MESH:D020436]
synonym: "accessory nerve diseases" EXACT []
synonym: "cranial nerve eleven diseases" EXACT []
synonym: "Cranial Nerve Eleven Disorders" EXACT []
synonym: "Cranial Nerve XI Diseases" EXACT []
synonym: "disorder of 11th nerve" EXACT []
synonym: "disorder of accessory [11th] nerve" EXACT []
synonym: "disorder of accessory nerve" EXACT []
synonym: "Eleventh Cranial Nerve Disease" EXACT []
synonym: "eleventh nerve disorder" EXACT []
synonym: "spinal accessory nerve diseases" EXACT []
xref: ICD9CM:352.4
xref: MESH:D020436
xref: NCI:C26953
is_a: DOID:3418 ! glossopharyngeal nerve disease

[Term]
id: DOID:3390
name: palmoplantar keratosis
alt_id: OMIA:001327
def: "A keratosis characterized by abnormal thickening of the palms and the soles. (DO)" [http://en.wikipedia.org/wiki/Palmoplantar_keratoderma "DO"]
synonym: "Hyperkeratosis Palmaris et Plantaris" EXACT []
synonym: "Keratosis Palmaris et Plantaris" EXACT []
synonym: "Palmoplantar Keratoderma" EXACT []
synonym: "Palmoplantar Keratodermas" EXACT []
synonym: "palmo-plantar keratodermas" EXACT []
synonym: "Palmoplantar Keratoses" EXACT []
synonym: "Unna-Thost disease" NARROW []
synonym: "Unna-Thost keratoderma" NARROW []
synonym: "Unna-Thost syndrome" NARROW []
xref: EFO:1000745
xref: GARD:8167
xref: ICD10CM:L85.2
xref: MESH:D007645
xref: NCI:C34748
is_a: DOID:161 ! keratosis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:3393
name: coronary artery disease
def: "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. (DO)" [http://en.wikipedia.org/wiki/Coronary_heart_disease "DO"]
synonym: "Coronary Arterioscleroses" EXACT []
synonym: "Coronary Arteriosclerosis" EXACT []
synonym: "Coronary artery disease, modifier of" RELATED []
synonym: "Coronary Artery Diseases" EXACT []
synonym: "Coronary artery spasm 2, susceptibility to" RELATED []
synonym: "Coronary Atheroscleroses" EXACT []
synonym: "Coronary Atherosclerosis" EXACT []
synonym: "LIPOPROTEIN(A) POLYMORPHISM" RELATED []
synonym: "PREMATURE CORONARY ARTERY ATHEROSCLEROSIS" NARROW []
synonym: "Premature coronary artery disease" NARROW []
xref: EFO:0000378
xref: EFO:0001645
xref: ICD10CM:I20-I25
xref: ICD10CM:I25
xref: ICD10CM:I25.10
xref: ICD9CM:410-414.99
xref: ICD9CM:414.0
xref: ICD9CM:414.9
xref: MESH:D003324
xref: MONDO:0021661
xref: NCI:C26732
xref: NCI:C35505
xref: NCI:C50625
is_a: DOID:0050828 ! artery disease
is_a: DOID:2349 ! arteriosclerosis
is_a: DOID:9000528 ! Coronary Disease

[Term]
id: DOID:3401
name: inappropriate ADH syndrome
def: "A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH). (DO)" [https://medlineplus.gov/ency/article/000314.htm "DO"]
synonym: "Antidiuretic Hormone, Inappropriate Secretion" EXACT []
synonym: "Inappropriate Vasopressin Secretion Syndrome" EXACT []
synonym: "Schwartz Bartter Syndrome" EXACT []
synonym: "SIADH" EXACT []
synonym: "syndrome of inappropriate ADH (SIADH) secretion" EXACT []
synonym: "syndrome of inappropriate antidiuretic hormone secretion" EXACT []
synonym: "syndrome of inappropriate secretion of ADH" EXACT []
synonym: "syndrome of inappropriate secretion of antidiuretic hormone" EXACT []
synonym: "syndrome of inappropriate vasopressin secretion" EXACT []
xref: EFO:1000982
xref: ICD10CM:E22.2
xref: MESH:D007177
xref: NCI:C3988
is_a: DOID:225 ! syndrome
is_a: DOID:53 ! pituitary gland disease
is_a: DOID:9004004 ! Water-Electrolyte Imbalance

[Term]
id: DOID:3405
name: histiocytosis
def: "A lymphatic system disease that is characterized by an excessive number of histiocytes. (DO)" [http://en.wikipedia.org/wiki/Histiocytosis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000068.htm "DO"]
synonym: "chronic histiocytosis X" EXACT []
synonym: "Hand Schuller Christian disease" EXACT []
synonym: "histiocytoses" EXACT []
xref: MESH:D015614
xref: NCI:C3106
is_a: DOID:75 ! lymphatic system disease

[Term]
id: DOID:3407
name: carotid artery disease
def: "Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology." [MESH:D002340]
synonym: "Carotid Arterial Disease" EXACT []
synonym: "Carotid Arterial Diseases" EXACT []
synonym: "carotid artery diseases" EXACT []
synonym: "Carotid Artery Disorder" EXACT []
synonym: "Carotid Artery Disorders" EXACT []
synonym: "Carotid Atherosclerotic Disease" EXACT []
synonym: "Carotid Atherosclerotic Diseases" EXACT []
synonym: "common carotid arterial diseases" EXACT []
synonym: "common carotid artery diseases" EXACT []
synonym: "disorder of carotid artery" EXACT []
synonym: "external carotid arterial diseases" EXACT []
synonym: "external carotid artery diseases" EXACT []
synonym: "internal carotid arterial diseases" EXACT []
synonym: "internal carotid artery diseases" EXACT []
xref: EFO:0003781
xref: MESH:D002340
xref: NCI:C84476
is_a: DOID:0050828 ! artery disease
is_a: DOID:6713 ! cerebrovascular disease

[Term]
id: DOID:341
name: peripheral vascular disease
def: "A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. (DO)" [http://en.wikipedia.org/wiki/Peripheral_vascular_disease "DO"]
synonym: "peripheral angiopathies" EXACT []
synonym: "peripheral angiopathy" EXACT []
synonym: "peripheral vascular diseases" EXACT []
xref: EFO:0003875
xref: ICD9CM:443.81
xref: MESH:D016491
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:3410
name: carotid artery thrombosis
def: "Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX." [MESH:D002341]
synonym: "carotid artery thromboses" EXACT []
synonym: "Carotid Thrombosis" EXACT []
synonym: "Common Carotid Artery Thrombosis" EXACT []
synonym: "External Carotid Artery Thrombosis" EXACT []
synonym: "internal carotid artery thrombosis" EXACT []
xref: EFO:1000853
xref: MESH:D002341
is_a: DOID:3407 ! carotid artery disease
is_a: DOID:4193 ! intracranial thrombosis

[Term]
id: DOID:3413
name: alpha-mannosidosis
def: "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. (DO)" [http://en.wikipedia.org/wiki/Alpha-mannosidosis "DO"]
synonym: "alpha-D-mannosidosis" EXACT []
synonym: "alpha mannosidase B deficiency" EXACT []
synonym: "alpha-Mannosidase Deficiencies" EXACT []
synonym: "alpha Mannosidase Deficiency" EXACT []
synonym: "alpha-Mannosidoses" EXACT []
synonym: "Alpha-Mannosidosis, Type I" EXACT []
synonym: "deficiency of alpha-mannosidase" EXACT []
synonym: "Lysosomal Alpha B Mannosidosis" EXACT []
synonym: "lysosomal alpha-D-mannosidase deficiencies" EXACT []
synonym: "lysosomal alpha D mannosidase deficiency" EXACT []
synonym: "MANSA" EXACT []
xref: GARD:6968
xref: MESH:D008363
xref: MIM:248500
xref: MONDO:0009561
xref: NCI:C84548
is_a: DOID:9003847 ! Mannosidase Deficiency Diseases

[Term]
id: DOID:3417
name: glossopharyngeal nerve neoplasm
synonym: "neoplasm of glossopharyngeal nerve" EXACT []
synonym: "tumor of glossopharyngeal nerve" EXACT []
xref: NCI:C5828
is_a: DOID:2815 ! cranial nerve malignant neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:3418
name: glossopharyngeal nerve disease
def: "A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla. (DO)" [https://www.ncbi.nlm.nih.gov/mesh?Db=mesh&term=Glossopharyngeal+Nerve+Diseases "DO"]
synonym: "cranial nerve IX diseases" EXACT []
synonym: "cranial nerve IX disorders" EXACT []
synonym: "glossopharyngeal nerve diseases" EXACT []
synonym: "Glossopharyngeal Nerve Sensory Neuropathy" EXACT []
synonym: "glossopharyngeal nerve taste disorder" EXACT []
synonym: "ninth cranial nerve disease" EXACT []
synonym: "ninth cranial nerve diseases" EXACT []
xref: ICD10CM:G52
xref: ICD9CM:352
xref: MESH:D020435
is_a: DOID:5656 ! cranial nerve disease

[Term]
id: DOID:3419
name: optic nerve neoplasm
def: "Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." []
synonym: "Benign Optic Nerve Neoplasm" EXACT []
synonym: "benign optic nerve sheath neoplasms" EXACT []
synonym: "benign optic nerve sheath tumors" EXACT []
synonym: "Benign Optic Nerve Tumor" EXACT []
synonym: "Malignant Optic Nerve Neoplasm" EXACT []
synonym: "malignant optic nerve sheath neoplasms" EXACT []
synonym: "malignant optic nerve sheath tumors" EXACT []
synonym: "malignant optic nerve tumor" EXACT []
synonym: "neoplasm of optic nerve" EXACT []
synonym: "optic nerve neoplasms" EXACT []
synonym: "optic nerve sheath neoplasm" EXACT []
synonym: "optic nerve sheath tumors" EXACT []
synonym: "tumor of second cranial nerve" EXACT []
synonym: "tumour of optic nerve" EXACT []
xref: EFO:1001073
xref: MESH:D019574
xref: NCI:C4801
is_a: DOID:1891 ! optic nerve disease
is_a: DOID:2815 ! cranial nerve malignant neoplasm

[Term]
id: DOID:342
name: subclavian artery aneurysm
xref: ICD9CM:442.82
xref: RDO:9002821
is_a: DOID:0050828 ! artery disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3421
name: trochlear nerve neoplasm
synonym: "neoplasm of trochlear nerve" EXACT []
synonym: "tumor of trochlear nerve" EXACT []
xref: NCI:C5825
is_a: DOID:2815 ! cranial nerve malignant neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:3426
name: vestibular disease
def: "An inner ear disease that is located in the vestibular system. (DO)" [https://www.merckmanuals.com/professional/ear\,-nose\,-and-throat-disorders/inner-ear-disorders/introduction-to-inner-ear-disorders "DO"]
synonym: "vertigo, vestibular disorder" EXACT []
synonym: "vestibular diseases" EXACT []
xref: EFO:0009691
xref: ICD10CM:H81.9
xref: MESH:D015837
is_a: DOID:2952 ! inner ear disease

[Term]
id: DOID:3428
name: granulomatous myositis
xref: NCI:C27575
xref: RDO:9003142
is_a: DOID:633 ! myositis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:3429
name: inclusion body myositis
alt_id: MIM:147421
def: "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle. (DO)" [http://en.wikipedia.org/wiki/Inclusion_body_myositis "DO", https://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy "DO"]
synonym: "Hereditary Inclusion Body Myopathy" EXACT []
synonym: "HIBM" EXACT []
synonym: "IBM" EXACT []
synonym: "inclusion body myositides" EXACT []
synonym: "sporadic inclusion body myopathy" EXACT []
synonym: "sporadic inclusion body myositis" EXACT []
xref: EFO:0007323
xref: GARD:3896
xref: ICD10CM:G72.41
xref: ICD9CM:359.71
xref: MESH:D018979
xref: MONDO:0007827
xref: NCI:C84786
xref: ORDO:611
is_a: DOID:633 ! myositis

[Term]
id: DOID:3431
name: cerebritis
def: "A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition. (DO)" [https://en.wikipedia.org/wiki/Cerebritis "DO"]
xref: NCI:C27199
is_a: DOID:936 ! brain disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3436
name: viral laryngitis
def: "A acute laryngitis which is caused by viral infection. (DO)" [http://www.merck.com/mmpe/sec08/ch092/ch092d.html "DO"]
xref: NCI:C27305
is_a: DOID:934 ! viral infectious disease
is_a: DOID:9396 ! acute laryngitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3437
name: laryngitis
def: "A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. (DO)" [http://en.wikipedia.org/wiki/Laryngitis "DO"]
synonym: "laryngitides" EXACT []
xref: MESH:D007827
xref: NCI:C26811
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:3443
name: mammary Paget's disease
def: "A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371672/ "DO"]
synonym: "mammary Paget disease" EXACT []
synonym: "Mammary Pagets Disease" EXACT []
synonym: "Paget's disease" EXACT []
synonym: "Paget's Disease of Breast" EXACT []
synonym: "Paget's Disease of the Breast" EXACT []
synonym: "Paget's Disease of the Nipple" EXACT []
synonym: "Paget's Disease of the Nipple and Areola" EXACT []
synonym: "Paget cell neoplasm" EXACT []
synonym: "Paget Disease, Breast" EXACT []
synonym: "Paget Disease of Breast" EXACT []
synonym: "Pagets Disease, Breast" EXACT []
synonym: "pigmented mammary Paget disease" EXACT []
xref: MESH:D010144
xref: NCI:C7073
is_a: DOID:0060074 ! ductal carcinoma in situ
is_a: DOID:3458 ! breast adenocarcinoma
is_a: DOID:8791 ! breast carcinoma in situ

[Term]
id: DOID:3444
name: scrotum Paget's disease
synonym: "Paget's disease of scrotum" EXACT []
synonym: "scrotum Paget disease" EXACT []
xref: NCI:C7728
is_a: DOID:3445 ! scrotal carcinoma
is_a: DOID:3450 ! cutaneous Paget's disease
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:3445
name: scrotal carcinoma
synonym: "carcinoma of scrotum" EXACT []
xref: NCI:C6389
is_a: DOID:305 ! carcinoma
is_a: DOID:518 ! scrotum neoplasm

[Term]
id: DOID:3446
name: anal Paget's disease
synonym: "anal Paget disease" EXACT []
synonym: "Paget's disease of anus" EXACT []
synonym: "Paget's disease of the anus" EXACT []
xref: NCI:C5598
is_a: DOID:0050922 ! gastrointestinal carcinoma
is_a: DOID:3447 ! anus adenocarcinoma
is_a: DOID:3450 ! cutaneous Paget's disease
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:3447
name: anus adenocarcinoma
def: "An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of anus" EXACT [NCI2004_11_17:C5600]
synonym: "adenocarcinoma of the anus" RELATED []
xref: NCI:C5600
xref: RDO:9004070
is_a: DOID:0050913 ! large intestine adenocarcinoma
is_a: DOID:4908 ! anal carcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:3448
name: penis Paget's disease
synonym: "Paget's disease of penis" EXACT []
synonym: "penis Paget disease" EXACT []
xref: NCI:C27817
is_a: DOID:3449 ! penis carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:3449
name: penis carcinoma
def: "A penile cancer that is located_in the skin or tissues of the penis. (DO)" [http://en.wikipedia.org/wiki/Carcinoma_of_the_penis "DO"]
synonym: "carcinoma of penis" EXACT []
synonym: "penile carcinoma" EXACT []
xref: EFO:0005575
xref: EFO:1000465
xref: MONDO:0006360
xref: NCI:C9061
is_a: DOID:11615 ! penile cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:345
name: uterine disease
def: "A female reproductive system disease that is located_in the uterus. (DO)" [http://www.merriam-webster.com/dictionary/uterus "DO"]
synonym: "uterine diseases" EXACT []
xref: ICD10CM:N85.9
xref: ICD9CM:621.9
xref: MESH:D014591
xref: NCI:C26907
is_a: DOID:229 ! female reproductive system disease

[Term]
id: DOID:3450
name: cutaneous Paget's disease
alt_id: MIM:167300
def: "A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/pages/home.jsf;jsessionid=C48DBFA9A55E2FE31390EDF86D581ABE "DO"]
synonym: "cutaneous Paget disease" EXACT []
synonym: "Extra Mammary Paget's Disease" EXACT []
synonym: "extramammary Paget's disease" EXACT []
synonym: "extra mammary Paget disease" EXACT []
synonym: "extramammary Paget disease" EXACT []
synonym: "extra-mammary Pagets disease" EXACT []
synonym: "extramammary Pagets disease" EXACT []
synonym: "Paget's disease of skin" EXACT []
xref: EFO:1000249
xref: MESH:D010145
xref: MONDO:0002655
xref: NCI:C3302
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:3451 ! skin carcinoma
is_a: DOID:9008490 ! Ductal, Lobular, and Medullary Neoplasms

[Term]
id: DOID:3451
name: skin carcinoma
def: "A skin cancer that is located_in tissues of the skin and develops from epithelial cells. (DO)" [http://www.cancer.gov/cancertopics/types/skin "DO"]
synonym: "carcinoma of skin" EXACT []
synonym: "keratinocyte carcinoma" EXACT []
synonym: "non-melanoma skin carcinoma" EXACT []
xref: EFO:0009259
xref: EFO:0009260
xref: EFO:0010176
xref: NCI:C4914
is_a: DOID:305 ! carcinoma
is_a: DOID:4159 ! skin cancer
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:3454
name: brain infarction
def: "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain. (DO)" [https://meshb.nlm.nih.gov/record/ui?ui=D020520 "DO"]
synonym: "Anterior Cerebral Circulation Infarction" EXACT []
synonym: "Anterior Circulation Brain Infarction" EXACT []
synonym: "brain infarctions" EXACT []
synonym: "Brain Venous Infarction" EXACT []
synonym: "Brain Venous Infarctions" EXACT []
synonym: "MRI defined brain infarct" NARROW []
synonym: "posterior circulation brain infarction" EXACT []
xref: EFO:0004277
xref: EFO:0004715
xref: MESH:D020520
is_a: DOID:2316 ! brain ischemia
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9007096 ! Stroke

[Term]
id: DOID:3456
name: cervix erosion
def: "A cervix disease that is characterized by the presence of enodcervical columnar epithelium on the ectocervix. (DO)" [https://en.wikipedia.org/wiki/Cervical_ectropion "DO"]
synonym: "erosion of cervix" EXACT []
synonym: "Uterine Cervical Erosion" EXACT []
synonym: "Uterine Cervix Erosion" EXACT []
xref: EFO:1000862
xref: MESH:D002579
is_a: DOID:2253 ! cervix disease

[Term]
id: DOID:3457
name: invasive lobular carcinoma
def: "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated. (DO)" [http://www.breastcancer.org/symptoms/types/ilc "DO", https://www.ncbi.nlm.nih.gov/pubmed/25849106 "DO"]
synonym: "infiltrating lobular carcinoma" EXACT []
synonym: "invasive lobular breast carcinoma" EXACT []
xref: EFO:0000185
xref: EFO:0000553
xref: NCI:C7950
is_a: DOID:0050938 ! breast lobular carcinoma

[Term]
id: DOID:3458
name: breast adenocarcinoma
def: "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. (DO)" [http://www.virtualmedicalcentre.com/diseases.asp?did=696 "DO"]
synonym: "adenocarcinoma of breast" EXACT []
synonym: "Adenocarcinoma of the breast" EXACT []
synonym: "basal-like breast carcinoma" NARROW []
synonym: "Breast adenocarcinoma, somatic" EXACT []
synonym: "Mammary adenocarcinoma" EXACT [NCI2004_11_17:C5214]
synonym: "Mixed Lobular and Ductal Breast Carcinoma" BROAD []
synonym: "Normal Breast-Like Subtype of Breast Carcinoma" NARROW []
xref: EFO:0000281
xref: EFO:0000304
xref: EFO:0000592
xref: EFO:1000382
xref: EFO:1000402
xref: NCI:C5214
xref: RDO:9000715
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:3459 ! breast carcinoma

[Term]
id: DOID:3459
name: breast carcinoma
def: "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Breast_cancer "DO"]
synonym: "breast carcinomas" EXACT []
synonym: "carcinoma of breast" EXACT [SNOMEDCT_2005_07_31:254838004]
synonym: "HER2 POSITIVE BREAST CARCINOMA" NARROW []
synonym: "human mammary carcinoma" EXACT []
synonym: "human mammary carcinomas" EXACT []
synonym: "Mammary carcinoma" EXACT [NCI2004_11_17:C4872]
synonym: "MULTIFOCAL BREAST CARCINOMA" NARROW []
synonym: "TP53 Positive Breast Carcinoma" NARROW []
xref: EFO:0000305
xref: EFO:1002010
xref: NCI:C124249
xref: NCI:C4872
xref: RDO:9001794
is_a: DOID:1612 ! breast cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:3463
name: breast disease
def: "A thoracic disease that is located_in the breast. (DO)" [http://www.nlm.nih.gov/medlineplus/breastdiseases.html "DO"]
synonym: "breast diseases" EXACT []
synonym: "endocrine breast disease" EXACT []
synonym: "endocrine breast diseases" EXACT []
xref: EFO:0009483
xref: ICD10CM:N64.9
xref: ICD9CM:610-612.99
xref: MESH:D001941
xref: NCI:C26709
is_a: DOID:0060118 ! thoracic disease
is_a: DOID:37 ! skin disease

[Term]
id: DOID:3478
name: iris cancer
synonym: "malignant neoplasm of the Iris" EXACT [NCI2004_11_17:C4554]
synonym: "malignant tumor of iris" EXACT []
synonym: "tumor of the Iris" EXACT [NCI2004_11_17:C3142]
xref: EFO:1000996
xref: NCI:C3142
xref: NCI:C4554
is_a: DOID:3479 ! uveal cancer
is_a: DOID:9006805 ! Iris Neoplasms

[Term]
id: DOID:3479
name: uveal cancer
def: "An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes. (DO)" [https://www.umkelloggeye.org/conditions-treatments/uveal-melanoma-ocular-melanoma "DO"]
synonym: "malignant neoplasm of uveal tract" EXACT []
synonym: "malignant uveal tumor" EXACT []
synonym: "malignant uvea neoplasm" EXACT []
xref: EFO:1001230
xref: NCI:C6105
is_a: DOID:2174 ! ocular cancer
is_a: DOID:9007031 ! Uveal Neoplasms

[Term]
id: DOID:348
name: blepharochalasis
alt_id: MIM:110000
def: "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. (DO)" [https://en.wikipedia.org/wiki/Blepharochalasis "DO"]
synonym: "superior blepharochalasis" EXACT []
xref: ICD10CM:H02.3
xref: ICD9CM:374.34
xref: MESH:C566223
is_a: DOID:530 ! eyelid disease

[Term]
id: DOID:3480
name: uveal disease
def: "An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26908 "DO"]
synonym: "uveal diseases" EXACT []
xref: GARD:8192
xref: MESH:D014603
xref: NCI:C26908
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:3481
name: septicemic plague
def: "A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs. (DO)" [http://en.wikipedia.org/wiki/Plague_%28disease%29#Septicemic_plague "DO", http://www.cdc.gov/ncidod/dvbid/plague/facts.htm "DO"]
synonym: "septicemic plagues" EXACT []
xref: EFO:0007481
xref: ICD10CM:A20.7
xref: ICD9CM:020.2
is_a: DOID:1287 ! cardiovascular system disease
is_a: DOID:3482 ! plague
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:3482
name: plague
def: "A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29628173 "DO"]
synonym: "Black Plague" EXACT []
synonym: "black plagues" EXACT []
synonym: "Meningeal Plague" EXACT []
synonym: "Meningeal Plagues" EXACT []
synonym: "N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM" RELATED []
synonym: "Pulmonic Plague" EXACT []
synonym: "pulmonic plagues" EXACT []
synonym: "Yersinia pestis infections" EXACT []
synonym: "Yersinia pestis infectious disease" EXACT []
xref: EFO:0009425
xref: ICD10CM:A20
xref: ICD9CM:020
xref: MESH:D010930
xref: NCI:C85015
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9003800 ! Yersinia Infections

[Term]
id: DOID:3486
name: necrobiosis lipoidica
def: "A degenerative disease of the dermal connective tissue characterized by the development of erythematous papules or nodules in the pretibial area. The papules form plaques covered with telangiectatic vessels. More than half of the affected patients have diabetes." [MESH:D009335]
synonym: "Necrobiosis Lipoidica Diabeticorum" EXACT []
xref: EFO:1000738
xref: GARD:13040
xref: MESH:D009335
xref: NCI:C34840
is_a: DOID:37 ! skin disease
is_a: DOID:9002435 ! Metabolic Skin Diseases
is_a: DOID:9005057 ! Necrobiotic Disorders

[Term]
id: DOID:3488
name: cellulitis
def: "A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion. (DO)" [http://en.wikipedia.org/wiki/Cellulitis "DO"]
synonym: "phlegmon" EXACT []
xref: EFO:0003035
xref: ICD10CM:L03.90
xref: MESH:D002481
xref: NCI:C26715
xref: NCI:C34454
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9000859 ! Infectious Skin Diseases
is_a: DOID:9005889 ! Suppuration

[Term]
id: DOID:349
name: systemic mastocytosis
def: "A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis." [MESH:D034721]
synonym: "SMCD - systemic mast cell disease" EXACT []
synonym: "systemic mast cell disease" EXACT []
synonym: "Systemic Mast-Cell Diseases" EXACT []
synonym: "systemic mastocytoses" EXACT []
synonym: "systemic tissue mast cell disease" EXACT []
xref: GARD:8616
xref: MESH:D034721
xref: MONDO:0016586
xref: NCI:C9235
is_a: DOID:350 ! mastocytosis

[Term]
id: DOID:3490
name: Noonan syndrome
def: "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. (DO)" [https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition "DO", https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome "DO", https://research.nhgri.nih.gov/atlas/condition/noonan-syndrome "DO", https://www.genome.gov/Genetic-Disorders/Noonan-Syndrome "DO"]
synonym: "familial Turner syndrome" EXACT []
synonym: "female pseudo Turner syndrome" EXACT []
synonym: "male Turner's syndrome" EXACT []
synonym: "Male Turner Syndrome" EXACT []
synonym: "Noonan's syndrome" EXACT []
synonym: "Noonan Ehmke Syndrome" EXACT []
synonym: "Pseudo Ullrich Turner Syndrome" EXACT []
synonym: "pterygium colli syndrome" NARROW []
synonym: "Turner's phenotype, karyotype normal" EXACT []
synonym: "Turner like syndrome" EXACT []
synonym: "Turner phenotype with normal karyotype" EXACT []
synonym: "Ullrich Noonan syndrome" EXACT []
xref: GARD:10955
xref: ICD10CM:Q87.19
xref: MESH:D009634
xref: MIM:PS163950
xref: MONDO:0018997
xref: NCI:C34854
xref: NCI:C75459
xref: ORDO:648
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:0080690 ! RASopathy
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:3491
name: Turner syndrome
def: "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. (DO)" [https://ghr.nlm.nih.gov/condition/turner-syndrome "DO", https://rarediseases.org/rare-diseases/turner-syndrome/ "DO", https://research.nhgri.nih.gov/atlas/condition/turner-syndrome "DO", https://www.genome.gov/Genetic-Disorders/Turner-Syndrome "DO"]
synonym: "Bonnevie Ullrich syndrome" EXACT []
synonym: "Gonadal Dysgenesis, 45,X" EXACT []
synonym: "gonadal dysgenesis - Turner" EXACT []
synonym: "karyotype 45, X" EXACT []
synonym: "Monosomy X" EXACT []
synonym: "monosomy X syndrome" EXACT []
synonym: "Status Bonnevie Ullrich" EXACT []
synonym: "Turner's Syndrome" EXACT []
synonym: "Turners Syndrome" EXACT []
synonym: "Ullrich Turner Syndrome" EXACT []
synonym: "XO gonadal dysgenesis" EXACT []
synonym: "XO syndrome" EXACT []
xref: GARD:2540
xref: GARD:7831
xref: ICD10CM:Q96
xref: ICD10CM:Q96.0
xref: ICD10CM:Q96.9
xref: MESH:D014424
xref: NCI:C26900
xref: NCI:C34434
xref: NCI:C85210
is_a: DOID:14447 ! gonadal dysgenesis
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9003262 ! Sex Chromosome Disorders of Sex Development

[Term]
id: DOID:3492
name: mixed connective tissue disease
def: "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. (DO)" [http://www.merckmanuals.com/professional/sec04/ch032/ch032c.html "DO"]
synonym: "connective tissue disease overlap syndrome" EXACT []
synonym: "MCTD" EXACT []
synonym: "mixed collagen vascular disease" EXACT []
synonym: "Sharp Syndrome" EXACT []
xref: EFO:0007374
xref: GARD:7051
xref: ICD10CM:M35.1
xref: MESH:D008947
xref: NCI:C84892
is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system
is_a: DOID:225 ! syndrome
is_a: DOID:854 ! collagen disease

[Term]
id: DOID:3493
name: signet ring cell adenocarcinoma
def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance. (DO)" [http://en.wikipedia.org/wiki/Signet_ring_cell_carcinoma "DO"]
synonym: "signet ring carcinoma" EXACT []
synonym: "signet ring cell carcinoma" EXACT []
xref: EFO:0000698
xref: MESH:D018279
xref: NCI:C3774
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms

[Term]
id: DOID:3494
name: bile duct signet ring cell carcinoma
xref: NCI:C5776
is_a: DOID:3493 ! signet ring cell adenocarcinoma
is_a: DOID:4896 ! bile duct adenocarcinoma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:3495
name: extrahepatic bile duct adenocarcinoma
def: "An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of extrahepatic bile duct" EXACT []
synonym: "adenocarcinoma of the extrahepatic bile duct" RELATED []
synonym: "extrahepatic cholangiocarcinoma" EXACT []
synonym: "extrahepatic cholangiocarcinomas" EXACT []
xref: NCI:C7975
is_a: DOID:4682 ! extrahepatic bile duct carcinoma
is_a: DOID:4896 ! bile duct adenocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:3497
name: pancreatic signet ring cell adenocarcinoma
synonym: "pancreatic signet ring cell carcinoma" EXACT []
synonym: "Signet Ring cell carcinoma of pancreas" EXACT [NCI2004_11_17:C5720]
xref: NCI:C5720
xref: RDO:9002822
is_a: DOID:3493 ! signet ring cell adenocarcinoma
is_a: DOID:3498 ! pancreatic ductal adenocarcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3498
name: pancreatic ductal adenocarcinoma
alt_id: RDO:9002823
def: "A pancreatic adenocarcinoma that derives_from pancreatic duct cells. (DO)" [http://cancergenome.nih.gov/cancersselected/PancreaticDuctalAdenocarcinoma "DO", http://en.wikipedia.org/wiki/Pancreatic_cancer "DO"]
synonym: "ductal adenocarcinoma of the pancreas" EXACT [NCI2004_11_17:C9120]
synonym: "pancreatic tubular adenocarcinoma" EXACT []
synonym: "PDAC" EXACT []
synonym: "Undifferentiated Pancreatic Carcinoma" NARROW []
xref: EFO:0002517
xref: EFO:0006471
xref: EFO:1000606
xref: NCI:C34041
xref: NCI:C9120
is_a: DOID:3587 ! pancreatic ductal carcinoma
is_a: DOID:4074 ! pancreatic adenocarcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3499
name: gallbladder signet ring cell adenocarcinoma
synonym: "Signet Ring cell carcinoma of the gallbladder" EXACT [NCI2004_11_17:C5745]
xref: NCI:C5745
xref: RDO:9004660
is_a: DOID:3493 ! signet ring cell adenocarcinoma
is_a: DOID:3500 ! gallbladder adenocarcinoma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:350
name: mastocytosis
alt_id: MIM:154800
def: "A heterogenous group of disorders characterized by the abnormal increase of MAST CELLS in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA)." [MESH:D008415]
synonym: "Mast Cell Disease" EXACT []
synonym: "Mast-Cell Diseases" EXACT []
synonym: "mast cell hyperplasia" EXACT []
synonym: "Mastocytoses" EXACT []
synonym: "Mastocytosis, Adult Sporadic" NARROW []
synonym: "MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET" NARROW []
synonym: "MASTOCYTOSIS  URTICARIA PIGMENTOSA" NARROW []
synonym: "mastocytosis with associated hematologic disorder" NARROW []
xref: EFO:0009001
xref: GARD:6987
xref: ICD10CM:Q82.2
xref: MESH:D008415
xref: NCI:C84269
is_a: DOID:37 ! skin disease
is_a: DOID:9003944 ! Connective Tissue Neoplasms
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:3500
name: gallbladder adenocarcinoma
def: "A gallbladder carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of the gallbladder" EXACT []
xref: EFO:1000262
xref: NCI:C9166
xref: RDO:9002505
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4948 ! gallbladder carcinoma

[Term]
id: DOID:3501
name: ampullary signet ring cell adenocarcinoma
synonym: "ampullary signet ring cell carcinoma" EXACT []
xref: NCI:C6656
is_a: DOID:3493 ! signet ring cell adenocarcinoma
is_a: DOID:3502 ! ampulla of Vater adenocarcinoma
created_by: rgd
creation_date: 2017-09-26T00:00:00Z

[Term]
id: DOID:3502
name: ampulla of Vater adenocarcinoma
def: "An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of ampulla of vater" EXACT []
synonym: "ampullary adenocarcinoma" EXACT []
xref: EFO:0008490
xref: NCI:C6650
is_a: DOID:10816 ! duodenum adenocarcinoma
is_a: DOID:4896 ! bile duct adenocarcinoma
is_a: DOID:4932 ! ampulla of Vater carcinoma
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:3503
name: breast signet ring cell adenocarcinoma
def: "A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751374/ "DO"]
synonym: "mammary signet ring cell carcinoma" EXACT []
synonym: "signet ring cell carcinoma of breast" EXACT []
xref: NCI:C5175
xref: RDO:9004076
is_a: DOID:3458 ! breast adenocarcinoma
is_a: DOID:3493 ! signet ring cell adenocarcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:3504
name: prostate signet ring cell adenocarcinoma
synonym: "prostate signet ring cell carcinoma" EXACT []
synonym: "signet ring cell carcinoma of prostate" EXACT []
xref: NCI:C5535
is_a: DOID:2526 ! prostate adenocarcinoma
is_a: DOID:3493 ! signet ring cell adenocarcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:3507
name: dermatofibrosarcoma protuberans
alt_id: MIM:607907
def: "A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. (DO)" [http://en.wikipedia.org/wiki/Dermatofibrosarcoma_protuberans "DO", http://www.cancer.gov/dictionary?CdrID=44276 "DO"]
synonym: "Bednar's tumor" EXACT []
synonym: "Bednars Tumor" EXACT []
synonym: "Bednar Tumor" EXACT []
synonym: "Darier Ferrand Tumor" EXACT []
synonym: "Darier Hoffmann Tumor" EXACT []
synonym: "dermatofibrosarcoma" EXACT []
synonym: "Dermatofibrosarcoma Protuberan" EXACT []
synonym: "Dermatofibrosarcoma Protuberans, Giant Cell" EXACT []
synonym: "dermatofibrosarcomas" EXACT []
synonym: "DFSP" EXACT []
synonym: "Familial Dermatofibrosarcoma Protuberan" EXACT []
synonym: "Familial Dermatofibrosarcoma Protuberans" EXACT []
synonym: "Fibrosarcomatous Dermatofibrosarcoma Protuberan" EXACT []
synonym: "Fibrosarcomatous Dermatofibrosarcoma Protuberans" EXACT []
synonym: "Fibrosarcomatous DFSP" EXACT []
synonym: "FS-DFSP" EXACT []
synonym: "Giant Cell Fibroblastoma" EXACT []
synonym: "Giant Cell Fibroblastomas" EXACT []
synonym: "Giant Dermatofibrosarcoma Protuberan" EXACT []
synonym: "Giant Dermatofibrosarcoma Protuberans" EXACT []
synonym: "Juvenile DFSP" EXACT []
synonym: "Metastatic Dermatofibrosarcoma Protuberan" EXACT []
synonym: "Metastatic Dermatofibrosarcoma Protuberans" EXACT []
synonym: "Myxoid Dermatofibrosarcoma Protuberan" EXACT []
synonym: "Myxoid Dermatofibrosarcoma Protuberans" EXACT []
synonym: "Myxoid DFSP" EXACT []
synonym: "Pigmented Dermatofibrosarcoma Protuberan" EXACT []
synonym: "Pigmented Dermatofibrosarcoma Protuberans" EXACT []
synonym: "pigmented DFSP" EXACT []
xref: GARD:9569
xref: ICDO:8832/1
xref: MESH:D018223
xref: NCI:C4683
is_a: DOID:3355 ! fibrosarcoma

[Term]
id: DOID:3508
name: stricture or kinking of ureter
xref: ICD9CM:593.3
xref: RDO:9003105
is_a: DOID:557 ! kidney disease
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:3512
name: neurofibrosarcoma
def: "A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with NEUROFIBROMATOSIS 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)" [MESH:D018319]
synonym: "Neurofibrosarcomas" EXACT []
synonym: "Neurogenic Sarcoma" EXACT []
synonym: "Neurogenic Sarcomas" EXACT []
synonym: "Neurosarcoma" EXACT [SNOMEDCT_2005_07_31:19897006]
xref: GARD:8211
xref: MESH:D018319
xref: RDO:0007180
is_a: DOID:3355 ! fibrosarcoma
is_a: DOID:962 ! neurofibroma

[Term]
id: DOID:3516
name: adult fibrosarcoma
xref: NCI:C7809
xref: RDO:9004184
is_a: DOID:3355 ! fibrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3517
name: conventional fibrosarcoma
xref: NCI:C9429
xref: RDO:9004185
is_a: DOID:3355 ! fibrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3520
name: childhood fibrosarcoma
synonym: "pediatric fibrosarcoma" EXACT []
xref: ICD-O:M8810/3
xref: NCI:C8088
is_a: DOID:3355 ! fibrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3522
name: lateral medullary syndrome
def: "A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome. (DO)" [https://en.wikipedia.org/wiki/Lateral_medullary_syndrome "DO"]
synonym: "Dorsolateral Medullary Syndrome" EXACT []
synonym: "Lateral Bulbar Syndrome" EXACT []
synonym: "lateral medullary syndromes" EXACT []
synonym: "Posterior Inferior Cerebellar Artery Syndrome" EXACT []
synonym: "Vieseaux Wallenberg Syndrome" EXACT []
synonym: "Wallenberg's Syndrome" EXACT []
synonym: "Wallenbergs Syndrome" EXACT []
synonym: "Wallenberg syndrome" EXACT []
xref: EFO:1001011
xref: ICD10CM:G46.3
xref: MESH:D014854
xref: NCI:C84807
is_a: DOID:225 ! syndrome
is_a: DOID:3523 ! brain stem infarction

[Term]
id: DOID:3523
name: brain stem infarction
def: "A brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries located_in the brainstem, has_material_basis_in damage to the cranial nerve nuclei and long tracts, has_symptom vertigo, has_symptom imbalance, has_symptom decreased level of arousal. (DO)" [https://en.wikipedia.org/wiki/Brainstem "DO", https://en.wikipedia.org/wiki/Brainstem_stroke_syndrome "DO"]
synonym: "Benedict Syndrome" EXACT []
synonym: "Brainstem Infarction" EXACT []
synonym: "brain stem infarctions" EXACT []
synonym: "brainstem infarctions" EXACT []
synonym: "Brainstem Stroke" EXACT []
synonym: "Claude Syndrome" EXACT []
synonym: "Foville Syndrome" EXACT []
synonym: "Millard Gublar Syndrome" EXACT []
synonym: "Top of the Basilar Syndrome" EXACT []
synonym: "Weber syndrome" EXACT []
xref: EFO:1000847
xref: MESH:D020526
is_a: DOID:3454 ! brain infarction

[Term]
id: DOID:3525
name: middle cerebral artery infarction
def: "NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." [MESH:D020244]
synonym: "cerebral infarction, middle cerebral artery" EXACT []
synonym: "Left Middle Cerebral Artery Infarction" EXACT []
synonym: "MCA Infarction" EXACT []
synonym: "MCAO" EXACT []
synonym: "Middle Cerebral Artery Circulation Infarction" EXACT []
synonym: "Middle Cerebral Artery Embolic Infarction" EXACT []
synonym: "Middle Cerebral Artery Embolus" EXACT []
synonym: "Middle Cerebral Artery Occlusion" EXACT []
synonym: "Middle Cerebral Artery Stroke" EXACT []
synonym: "Middle Cerebral Artery Syndrome" EXACT []
synonym: "Middle Cerebral Artery Thrombosis" EXACT []
synonym: "Middle Cerebral Artery Thrombotic Infarction" EXACT []
synonym: "right middle cerebral artery infarction" EXACT []
synonym: "THROMBOTIC STROKE" BROAD []
xref: EFO:1001045
xref: MESH:D020244
is_a: DOID:3526 ! cerebral infarction
is_a: DOID:3527 ! cerebral arterial disease

[Term]
id: DOID:3526
name: cerebral infarction
alt_id: MIM:601367
def: "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain. (DO)" [https://en.wikipedia.org/wiki/Cerebral_infarction "DO"]
synonym: "acute cerebral infarction" NARROW []
synonym: "AIS" EXACT []
synonym: "anterior choroidal artery infarction" EXACT []
synonym: "arterial ischemic stroke" EXACT []
synonym: "arteriopathy stroke" NARROW []
synonym: "AS" NARROW []
synonym: "Cerebral infarct" EXACT []
synonym: "Cerebral Infarction, Left Hemisphere" EXACT []
synonym: "Cerebral Infarction, Right Hemisphere" EXACT []
synonym: "cerebral infarctions" EXACT []
synonym: "CEREBRAL INFARCTION, SUSCEPTIBILITY TO" RELATED []
synonym: "cerebral ischemic stroke" EXACT []
synonym: "CEREBROVASCULAR ACCIDENT" EXACT []
synonym: "CVA - cerebral infarction" EXACT []
synonym: "ischemic stroke" EXACT []
synonym: "Ischemic Stroke, Susceptibility To" RELATED []
synonym: "Posterior Choroidal Artery Infarction" EXACT []
synonym: "subcortical infarction" EXACT []
synonym: "subcortical infarctions" EXACT []
synonym: "thromboembolic stroke" NARROW []
synonym: "TS" NARROW []
xref: ICD10CM:I63
xref: MESH:D002544
xref: NCI:C3390
xref: NCI:C50486
is_a: DOID:3454 ! brain infarction

[Term]
id: DOID:3527
name: cerebral arterial disease
alt_id: RDO:0005162
def: "Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." [MESH:D002539]
synonym: "cerebral arterial diseases" EXACT []
synonym: "Cerebral Artery Disease" EXACT []
synonym: "Cerebral Artery Diseases" EXACT []
xref: EFO:1000859
xref: MESH:D002539
is_a: DOID:0050828 ! artery disease
is_a: DOID:13089 ! intracranial arterial disease

[Term]
id: DOID:3528
name: anterior cerebral artery infarction
def: "NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." [MESH:D020243]
synonym: "ACA infarction" EXACT []
synonym: "ACA infarctions" EXACT []
synonym: "Anterior Cerebral Artery Stroke" EXACT []
synonym: "Anterior Cerebral Artery Syndrome" EXACT []
synonym: "Heubner's Artery Infarction" EXACT []
synonym: "Heubner Artery Infarction" EXACT []
synonym: "Heubners Artery Infarction" EXACT []
synonym: "Infarction, Anterior Cerebral Artery Circulation" EXACT []
synonym: "Infarction, Anterior Cerebral Artery Distribution" EXACT []
xref: EFO:1000807
xref: MESH:D020243
xref: MONDO:0006647
is_a: DOID:3526 ! cerebral infarction
is_a: DOID:3527 ! cerebral arterial disease

[Term]
id: DOID:3529
name: congenital myopathy 1A
def: "A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe. (DO)" [https://medlineplus.gov/genetics/condition/central-core-disease/ "DO", https://pubmed.ncbi.nlm.nih.gov/23553484/ "DO", https://pubmed.ncbi.nlm.nih.gov/34627702/ "DO"]
synonym: "CCD" EXACT []
synonym: "CCO" EXACT []
synonym: "central core disease" EXACT []
synonym: "Central Core Disease, Autosomal Recessive" NARROW []
synonym: "central core disease of muscle" EXACT []
synonym: "central core diseases" EXACT []
synonym: "central core myopathies" EXACT []
synonym: "central core myopathy" EXACT []
synonym: "CMYO1A" EXACT []
synonym: "CMYP1A" EXACT []
synonym: "CNMDU1" NARROW []
synonym: "congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia" EXACT []
synonym: "congenital myopathy with cores" EXACT []
synonym: "congenital neuromuscular disease with uniform type 1 fiber" NARROW []
synonym: "moderate minicore myopathy with hand involvement" NARROW []
synonym: "Shy Magee syndrome" EXACT []
xref: EFO:1000855
xref: GARD:6014
xref: ICD10CM:G71.29
xref: MESH:D020512
xref: MIM:117000
xref: MONDO:0007294
xref: NCI:C83010
xref: ORDO:597
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081337 ! congenital myopathy

[Term]
id: DOID:3530
name: chronic wasting disease
def: "A transmissible spongiform encephalopathy (prion disease) of DEER and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (PRIONS)." [MESH:D034081]
xref: MESH:D034081
xref: RDO:0007484
is_a: DOID:649 ! prion disease
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:3534
name: Lafora disease
alt_id: OMIA:000690
def: "A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19267391 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19469843 "DO"]
synonym: "epilepsy progressive myoclonic 2" EXACT []
synonym: "EPM2" EXACT []
synonym: "Lafora's disease" EXACT []
synonym: "Lafora body disease" EXACT []
synonym: "Lafora Body Disorder" EXACT []
synonym: "Lafora Myoclonic Epilepsy" EXACT []
synonym: "Lafora Progressive Myoclonic Epilepsy" EXACT []
synonym: "Lafora Progressive Myoclonus Epilepsy" EXACT []
synonym: "Lafora type progressive myoclonic epilepsy" EXACT []
synonym: "late-onset Lafora body disease" EXACT []
synonym: "LBD" EXACT []
synonym: "MELF" EXACT []
synonym: "myoclonic epilepsy of Lafora" EXACT []
synonym: "myoclonus epilepsy of Lafora" EXACT []
synonym: "progressive myoclonic epilepsy type 2" EXACT []
synonym: "progressive myoclonus epilepsy, Lafora type" EXACT []
xref: GARD:8214
xref: MESH:D020192
xref: MIM:PS254780
xref: NCI:C84804
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:891 ! progressive myoclonus epilepsy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:3535
name: Unverricht-Lundborg syndrome
alt_id: MIM:254800
def: "A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19469843 "DO"]
synonym: "Baltic myoclonic epilepsies" EXACT []
synonym: "Baltic myoclonic epilepsy" EXACT []
synonym: "Baltic myoclonus" EXACT []
synonym: "Baltic myoclonus epilepsies" EXACT []
synonym: "Baltic myoclonus epilepsy" EXACT []
synonym: "Epilepsy, Progressive Myoclonic 1" EXACT []
synonym: "Epilepsy, Progressive Myoclonic Type 1" EXACT []
synonym: "EPM1" EXACT []
synonym: "Mediterranean Myoclonic Epilepsy" EXACT []
synonym: "Myoclonic Epilepsy of Unverricht and Lundborg" EXACT []
synonym: "progressive myoclonus epilepsy 1" EXACT []
synonym: "progressive myoclonus epilepsy of Unverricht and Lundborg" EXACT []
synonym: "ULD" EXACT []
synonym: "Unverricht's disease" EXACT []
synonym: "Unverricht disease" EXACT []
synonym: "Unverricht diseases" EXACT []
synonym: "Unverricht Lundborg disease" EXACT []
xref: GARD:3876
xref: MESH:D020194
xref: NCI:C179710
is_a: DOID:891 ! progressive myoclonus epilepsy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:3540
name: choroid plexus cancer
def: "A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain. (DO)" [http://en.wikipedia.org/wiki/Choroid_plexus "DO"]
synonym: "tumor of choroid plexus" EXACT []
synonym: "tumor of the choroid plexus" EXACT []
xref: EFO:0007206
xref: NCI:C3473
is_a: DOID:3541 ! cerebral ventricle cancer
is_a: DOID:9000080 ! Choroid Plexus Neoplasms
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:3541
name: cerebral ventricle cancer
def: "A cerebrum cancer that is located_in the cerebral ventricles. (DO)" [http://en.wikipedia.org/wiki/Ventricular_system "DO"]
synonym: "cerebral ventricle neoplasm" EXACT [CSP2005:2006-2736]
synonym: "Intraventricular tumor of brain" EXACT [NCI2004_11_17:C2937]
xref: EFO:0007201
xref: GARD:6025
xref: ICD10CM:C71.5
xref: ICD9CM:191.5
xref: NCI:C2937
xref: RDO:9004641
is_a: DOID:368 ! cerebrum cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:3542
name: adult choroid plexus cancer
synonym: "adult choroid plexus tumor" BROAD []
synonym: "neoplasm of the adult choroid plexus" BROAD []
xref: NCI:C8568
is_a: DOID:3540 ! choroid plexus cancer
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:3544
name: atypical choroid plexus papilloma
def: "A choroid plexus papilloma characterized by increased mitotic activity. (NCI)" []
xref: ICDO:9390/1
xref: NCI:C53686
is_a: DOID:2626 ! choroid plexus papilloma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:3545
name: childhood choroid plexus cancer
synonym: "childhood choroid plexus neoplasm" RELATED []
xref: ICD-O:M9390/3
xref: NCI:C42080
is_a: DOID:3540 ! choroid plexus cancer
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:355
name: mast-cell sarcoma
def: "A sarcoma that has_material_basis_in mast cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24745684 "DO"]
synonym: "Malignant Mastocytoma" EXACT []
synonym: "Malignant Mastocytomas" EXACT []
synonym: "Mast-Cell Sarcomas" EXACT []
xref: EFO:1000364
xref: ICD10CM:C96.22
xref: ICD9CM:202.6
xref: MESH:D012515
xref: NCI:C9348
is_a: DOID:1115 ! sarcoma
is_a: DOID:350 ! mastocytosis
is_a: DOID:3664 ! mast cell neoplasm

[Term]
id: DOID:3557
name: superior mesenteric artery syndrome
def: "A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery. (DO)" [https://rarediseases.org/rare-diseases/superior-mesenteric-artery-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK482209/ "DO"]
synonym: "Cast Syndrome" EXACT []
synonym: "Mesenteric Duodenal Compression Syndrome" EXACT []
synonym: "Wilkie's syndrome" EXACT []
synonym: "Wilkie Syndrome" EXACT []
xref: EFO:1001201
xref: GARD:7712
xref: MESH:D013478
xref: NCI:C85175
xref: ORDO:622099
is_a: DOID:0050828 ! artery disease
is_a: DOID:225 ! syndrome
is_a: DOID:3558 ! duodenal obstruction

[Term]
id: DOID:3558
name: duodenal obstruction
def: "Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents." [MESH:D004380]
synonym: "Duodenal Obstructions" EXACT []
xref: EFO:1000908
xref: ICD10CM:K31.5
xref: MESH:D004380
xref: NCI:C79548
xref: RDO:0000993
is_a: DOID:4072 ! duodenum disease
is_a: DOID:8437 ! intestinal obstruction

[Term]
id: DOID:3559
name: pseudomyxoma peritonei
def: "An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis. (DO)" [http://en.wikipedia.org/wiki/Pseudomyxoma_peritonei "DO", http://www.cancer.gov/dictionary?CdrID=44256 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/843/viewAbstract "DO", https://www.ncbi.nlm.nih.gov/pubmed/14567019 "DO"]
synonym: "gelatinous ascites" EXACT []
synonym: "mucinous ascites" EXACT []
synonym: "pseudomyxoma peritonei syndrome" EXACT []
synonym: "pseudomyxoma peritonei syndromes" EXACT []
synonym: "syndrome of pseudomyxoma peritonei" EXACT []
xref: EFO:0007456
xref: GARD:7488
xref: ICDO:8480/6
xref: MESH:D011553
xref: NCI:C3345
is_a: DOID:11239 ! appendix cancer
is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms

[Term]
id: DOID:3565
name: meningioma
def: "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. (DO)" [http://en.wikipedia.org/wiki/Meningioma "DO"]
synonym: "meningiomas" EXACT []
synonym: "meningiomatoses" EXACT []
synonym: "meningiomatosis" EXACT []
synonym: "meningothelial cell tumor" EXACT []
synonym: "Metaplastic Meningioma" NARROW []
synonym: "multiple meningioma" EXACT []
synonym: "multiple meningiomas" EXACT []
synonym: "neoplasm of the meninges" EXACT []
synonym: "primary meningeal tumor" EXACT []
xref: EFO:0003098
xref: EFO:1000375
xref: GARD:7015
xref: ICD10CM:D32.9
xref: ICDO:9530/0
xref: MESH:D008579
xref: MONDO:0016642
xref: NCI:C3230
xref: NCI:C6971
xref: ORDO:2495
is_a: DOID:3620 ! central nervous system cancer
is_a: DOID:9002573 ! Nerve Tissue Neoplasms
is_a: DOID:9006948 ! Vascular Tissue Neoplasms
is_a: DOID:9007166 ! Meningeal Neoplasms

[Term]
id: DOID:3571
name: liver cancer
def: "A hepatobiliary system cancer that is located_in the liver. (DO)" [http://en.wikipedia.org/wiki/Liver "DO"]
synonym: "ca liver - primary" EXACT []
synonym: "cancer of liver" EXACT []
synonym: "hepatic cancer" EXACT []
synonym: "malignant hepato-biliary neoplasm" EXACT []
synonym: "malignant neoplasm of liver" EXACT []
synonym: "malignant neoplasm of liver, not specified as primary or secondary" EXACT []
synonym: "malignant tumor of liver" EXACT []
synonym: "non-resectable primary hepatic malignant neoplasm" EXACT []
synonym: "primary liver cancer" EXACT []
synonym: "primary malignant neoplasm of liver" EXACT []
synonym: "resectable malignant neoplasm of liver" EXACT []
synonym: "resectable malignant neoplasm of the liver" EXACT []
xref: ICD10CM:C22.0
xref: ICD10CM:C22.9
xref: ICD9CM:155.0
xref: ICD9CM:155.2
xref: NCI:C34803
xref: NCI:C7692
is_a: DOID:0080355 ! hepatobiliary system cancer
is_a: DOID:170 ! endocrine gland cancer
is_a: DOID:9007188 ! Liver Neoplasms
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:3572
name: intracranial sinus thrombosis
def: "Formation or presence of a blood clot (THROMBUS) in the CRANIAL SINUSES, large endothelium-lined venous channels situated within the SKULL. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe HEADACHE; SEIZURE; and other neurological defects." [MESH:D012851]
synonym: "cerebral sinovenous thrombosis" EXACT []
synonym: "Cranial Sinus Thromboses" EXACT []
synonym: "Cranial Sinus Thrombosis" EXACT []
synonym: "CSVT" EXACT []
synonym: "Intracranial Sinus Thrombophlebitides" EXACT []
synonym: "Intracranial Sinus Thrombophlebitis" EXACT []
synonym: "Intracranial Sinus Thromboses" EXACT []
synonym: "Petrous Sinus Thrombophlebitides" EXACT []
synonym: "Petrous Sinus Thrombophlebitis" EXACT []
synonym: "Petrous Sinus Thromboses" EXACT []
synonym: "Petrous Sinus Thrombosis" EXACT []
synonym: "Sinus Thromboses" EXACT []
synonym: "Sinus Thrombosis" EXACT []
synonym: "Venous Sinus Thrombosis, Cranial" EXACT []
xref: MESH:D012851
xref: RDO:0006580
is_a: DOID:4193 ! intracranial thrombosis

[Term]
id: DOID:3574
name: lateral sinus thrombosis
alt_id: RDO:0007363
def: "Formation or presence of a blood clot (THROMBUS) in the LATERAL SINUSES. This condition is often associated with ear infections (OTITIS MEDIA or MASTOIDITIS) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; NEUROSURGICAL PROCEDURES; THROMBOPHILIA; and other conditions. Clinical features include HEADACHE; VERTIGO; and increased intracranial pressure." [MESH:D020227]
synonym: "lateral sinus thrombophlebitis" EXACT []
synonym: "Lateral Sinus Thromboses" EXACT []
synonym: "Septic Phlebitis, Lateral Sinus" EXACT []
synonym: "thrombosis of lateral venous sinus" EXACT []
synonym: "Transverse Sinus Thromboses" EXACT []
synonym: "transverse sinus thrombosis" EXACT []
xref: MESH:D020227
is_a: DOID:3572 ! intracranial sinus thrombosis

[Term]
id: DOID:3575
name: cavernous sinus thrombosis
def: "Formation or presence of a blood clot (THROMBUS) in the CAVERNOUS SINUS of the brain. Infections of the paranasal sinuses and adjacent structures, CRANIOCEREBRAL TRAUMA, and THROMBOPHILIA are associated conditions. Clinical manifestations include dysfunction of cranial nerves III, IV, V, and VI, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)" [MESH:D020226]
synonym: "Cavernous Sinus Thrombophlebitides" EXACT []
synonym: "Cavernous Sinus Thrombophlebitis" EXACT []
synonym: "Cavernous Sinus Thromboses" EXACT []
synonym: "Caverous Sinus Septic Phlebitis" EXACT []
synonym: "Septic Phlebitis, Cavernous Sinus" EXACT []
synonym: "Thrombosis of cavernous venous sinus" EXACT [SNOMEDCT_2005_07_31:89980009]
xref: MESH:D020226
xref: RDO:0007362
is_a: DOID:3572 ! intracranial sinus thrombosis

[Term]
id: DOID:3576
name: sagittal sinus thrombosis
def: "Formation or presence of a blood clot (THROMBUS) in the SUPERIOR SAGITTAL SINUS or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, CRANIOCEREBRAL TRAUMA; and NEUROSURGICAL PROCEDURES. Clinical features are primarily related to the increased intracranial pressure causing HEADACHE; NAUSEA; and VOMITING. Severe cases can evolve to SEIZURES or COMA." [MESH:D020225]
synonym: "Sagittal Sinus Septic Phlebitis" EXACT []
synonym: "Sagittal Sinus Thrombophlebitis" EXACT []
synonym: "Sagittal Sinus Thromboses" EXACT []
synonym: "Thrombosis of superior longitudinal sinus" EXACT [SNOMEDCT_2005_07_31:192760003]
synonym: "Thrombosis of superior sagittal sinus" EXACT [SNOMEDCT_2005_07_31:70607008]
xref: MESH:D020225
xref: RDO:0007361
is_a: DOID:3572 ! intracranial sinus thrombosis

[Term]
id: DOID:3577
name: Sertoli cell tumor
alt_id: DOID:0050617
def: "A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells. (DO)" [https://en.wikipedia.org/wiki/Sertoli_cell_tumour "DO"]
synonym: "Testicular Large Cell Calcifying Sertoli Cell Tumor" NARROW []
synonym: "Testicular Sclerosing Sertoli Cell Tumor" NARROW []
synonym: "Testicular Sertoli Cell Tumor" NARROW []
synonym: "tubular androblastoma" EXACT []
xref: EFO:1000568
xref: EFO:1000571
xref: EFO:1000572
xref: ICDO:8640/1
xref: MESH:D012707
xref: NCI:C39976
is_a: DOID:192 ! sex cord-gonadal stromal tumor

[Term]
id: DOID:3578
name: ovarian gonadoblastoma
def: "An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21879333 "DO"]
xref: EFO:1000420
xref: NCI:C39985
is_a: DOID:0060112 ! ovarian benign neoplasm
is_a: DOID:3301 ! gonadoblastoma

[Term]
id: DOID:3579
name: testicular gonadoblastoma
xref: NCI:C39911
is_a: DOID:0060087 ! male reproductive organ benign neoplasm
is_a: DOID:2519 ! testicular disease
is_a: DOID:3301 ! gonadoblastoma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:3587
name: pancreatic ductal carcinoma
def: "A pancreatic carcinoma located_in the pancreatic duct. (DO)" [http://en.wikipedia.org/wiki/Pancreatic_cancer "DO", http://en.wikipedia.org/wiki/Pancreatic_duct "DO"]
synonym: "ductal carcinoma of the pancreas" EXACT []
synonym: "Duct Cell Carcinoma of the Pancreas" EXACT []
synonym: "malignant neoplasm of duct of Wirsung" EXACT []
synonym: "Pancreas Duct-Cell Carcinoma" EXACT []
synonym: "Pancreas Duct-Cell Carcinomas" EXACT []
synonym: "Pancreatic Ductal Carcinomas" EXACT []
synonym: "pancreatic duct cancer" EXACT []
synonym: "pancreatic duct cell carcinoma" EXACT []
xref: ICD10CM:C25.3
xref: ICD9CM:157.3
xref: MESH:D021441
is_a: DOID:4905 ! pancreatic carcinoma
is_a: DOID:9008138 ! Ductal Carcinoma

[Term]
id: DOID:3590
name: gestational trophoblastic neoplasm
def: "A group of diseases arising from pregnancy that are commonly associated with hyperplasia of trophoblasts (TROPHOBLAST) and markedly elevated human CHORIONIC GONADOTROPIN. They include HYDATIDIFORM MOLE, invasive mole (HYDATIDIFORM MOLE, INVASIVE), placental-site trophoblastic tumor (TROPHOBLASTIC TUMOR, PLACENTAL SITE), and CHORIOCARCINOMA. These neoplasms have varying propensities for invasion and spread." []
synonym: "gestational trophoblastic disease" EXACT []
synonym: "gestational trophoblastic diseases" EXACT []
synonym: "gestational trophoblastic neoplasia" EXACT []
synonym: "gestational trophoblastic neoplasms" EXACT []
xref: ICD10CM:O01
xref: ICD9CM:630
xref: MESH:D031901
xref: MIM:PS231090
xref: NCI:C3110
xref: NCI:C4699
xref: NCI:C7887
is_a: DOID:1380 ! endometrial cancer
is_a: DOID:4085 ! trophoblastic neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:3593
name: epithelioid trophoblastic tumor
synonym: "epithelioid trophoblastic neoplasm" EXACT []
xref: NCI:C6900
is_a: DOID:1324 ! lung cancer
is_a: DOID:4085 ! trophoblastic neoplasm
is_a: DOID:4362 ! cervical cancer
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:3594
name: choriocarcinoma
def: "A placenta cancer that has_material_basis_in trophoblastic cells. (DO)" [https://en.wikipedia.org/wiki/Choriocarcinoma "DO"]
synonym: "Choriocarcinomas" EXACT []
synonym: "chorioepithelioma" EXACT []
synonym: "Gastric Choriocarcinoma" NARROW []
xref: EFO:0002893
xref: EFO:1000269
xref: GARD:6059
xref: ICD10CM:C58
xref: ICDO:9100/3
xref: MESH:D002822
xref: NCI:C2948
xref: NCI:C60377
is_a: DOID:2021 ! placenta cancer
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4085 ! trophoblastic neoplasm

[Term]
id: DOID:3596
name: placental site trophoblastic tumor
def: "A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14614893 "DO"]
synonym: "placental-site gestational trophoblastic neoplasm" EXACT []
synonym: "placental-site trophoblastic tumors" EXACT []
synonym: "placental site trophoblastic tumour" EXACT []
synonym: "placental trophoblastic tumor" EXACT []
synonym: "placental trophoblastic tumors" EXACT []
xref: EFO:1001111
xref: ICDO:9104/1
xref: MESH:D018245
xref: NCI:C3757
is_a: DOID:3594 ! choriocarcinoma

[Term]
id: DOID:3602
name: toxic encephalopathy
alt_id: OMIA:001402
def: "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521923/ "DO", https://en.wikipedia.org/wiki/Toxic_encephalopathy "DO"]
synonym: "nervous system poisoning" EXACT []
synonym: "neurotoxic disorder" EXACT []
synonym: "neurotoxic disorders" EXACT []
synonym: "Neurotoxicity Syndrome" EXACT []
synonym: "neurotoxicity syndromes" EXACT []
synonym: "Neurotoxin Disease" EXACT []
synonym: "Neurotoxin Diseases" EXACT []
synonym: "Neurotoxin Disorder" EXACT []
synonym: "Neurotoxin Disorders" EXACT []
synonym: "toxic encephalitides" EXACT []
synonym: "toxic encephalitis" EXACT []
synonym: "toxic encephalopathies" EXACT []
xref: EFO:0005595
xref: MESH:D020258
xref: NCI:C27961
is_a: DOID:225 ! syndrome
is_a: DOID:863 ! nervous system disease
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:3603
name: mucinous cystadenocarcinoma
def: "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. (DO)" [https://www.thehealthboard.com/what-is-a-mucinous-cystadenocarcinoma.htm "DO"]
synonym: "mucinous cystadenocarcinomas" EXACT []
synonym: "pseudomucinous cystadenocarcinoma" EXACT []
xref: EFO:0007378
xref: ICDO:8470/3
xref: MESH:D018282
xref: NCI:C3776
is_a: DOID:3111 ! cystadenocarcinoma

[Term]
id: DOID:3604
name: ovarian mucinous cystadenocarcinoma
def: "An ovarian cystadenocarcinoma that is characterized by the presence of mucin. (DO)" [https://en.wikipedia.org/wiki/Ovarian_mucinous_tumor "DO"]
synonym: "mucinous cystadenocarcinoma of ovary" EXACT []
xref: EFO:1001963
xref: NCI:C4026
is_a: DOID:3603 ! mucinous cystadenocarcinoma
is_a: DOID:3605 ! ovarian cystadenocarcinoma
is_a: DOID:6067 ! ovarian mucinous neoplasm
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:3605
name: ovarian cystadenocarcinoma
def: "An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2196390/ "DO"]
synonym: "cystadenocarcinoma of ovary" EXACT []
synonym: "cystadenocarcinoma of the ovary" EXACT []
xref: EFO:1001962
xref: NCI:C5228
is_a: DOID:3111 ! cystadenocarcinoma
is_a: DOID:3713 ! ovary adenocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:3606
name: ovarian mucinous adenocarcinoma
def: "An ovary adenocarcinoma that is characterized by the presence of mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24487473 "DO"]
synonym: "mucinous adenocarcinoma of ovary" EXACT []
synonym: "mucinous carcinoma of ovary" EXACT []
xref: EFO:0006462
xref: NCI:C5243
xref: ORDO:398961
is_a: DOID:3030 ! mucinous adenocarcinoma
is_a: DOID:3713 ! ovary adenocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:3607
name: appendix mucinous cystadenocarcinoma
synonym: "colloidal cystadenocarcinoma of the appendix" EXACT []
xref: NCI:C5511
is_a: DOID:3603 ! mucinous cystadenocarcinoma
is_a: DOID:3608 ! appendix adenocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:3608
name: appendix adenocarcinoma
def: "An appendix carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of appendix" EXACT []
synonym: "appendiceal adenocarcinoma" EXACT []
xref: EFO:1000088
xref: NCI:C7718
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4902 ! appendix carcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:3609
name: breast mucinous cystadenocarcinoma
def: "A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643878/ "DO"]
xref: NCI:C40354
is_a: DOID:3603 ! mucinous cystadenocarcinoma
is_a: DOID:3610 ! breast mucinous carcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:361
name: cervix endometriosis
def: "A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21890095 "DO"]
synonym: "cervical endometriosis" EXACT []
synonym: "endometriosis of cervix" EXACT []
xref: NCI:C27623
is_a: DOID:2253 ! cervix disease

[Term]
id: DOID:3610
name: breast mucinous carcinoma
def: "A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout. (DO)" [http://surgpathcriteria.stanford.edu/breast/mucincabr/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24305754 "DO"]
synonym: "invasive mucinous breast carcinoma" EXACT []
synonym: "mucinous carcinoma of breast" RELATED []
xref: NCI:C9131
is_a: DOID:3458 ! breast adenocarcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:3611
name: acute retinal necrosis syndrome
def: "Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." [MESH:D015882]
synonym: "acute retinal necroses" EXACT []
synonym: "acute retinal necrosis" EXACT []
xref: EFO:1000795
xref: MESH:D015882
is_a: DOID:3612 ! retinitis

[Term]
id: DOID:3612
name: retinitis
def: "Inflammation of the RETINA. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (CHORIORETINITIS) and of the OPTIC DISK (neuroretinitis)." [MESH:D012173]
xref: MESH:D012173
xref: NCI:C115993
is_a: DOID:5679 ! retinal disease

[Term]
id: DOID:3613
name: Canavan disease
alt_id: MIM:271900
def: "A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2512436/ "DO", https://pubmed.ncbi.nlm.nih.gov/3354621/ "DO", MESH:D017825]
synonym: "ACY2 deficiency" EXACT []
synonym: "Aminoacylase 2 Deficiency" EXACT []
synonym: "ASPA Deficiency" EXACT []
synonym: "Aspartoacylase Deficiency" EXACT []
synonym: "Aspartoacylase Deficiency Disease" EXACT []
synonym: "ASP Deficiency" EXACT []
synonym: "Canavan Disease, Familial Form" EXACT []
synonym: "Canavan Disease, Mild" EXACT []
synonym: "Canavan Disease, Sporadic Form" EXACT []
synonym: "Canavan van Bogaert Bertrand Disease" EXACT []
synonym: "familial form of Canavan disease" EXACT []
synonym: "Infantile Canavan Disease" EXACT []
synonym: "Juvenile Canavan Disease" EXACT []
synonym: "Neonatal Canavan Disease" EXACT []
synonym: "Spongiform Leukodystrophy" EXACT []
synonym: "Spongy Degeneration Of Central Nervous System" EXACT []
synonym: "Spongy Degeneration of Infancy" EXACT []
synonym: "Spongy Degeneration of the Brain" EXACT []
synonym: "Spongy Degeneration of the Central Nervous System" EXACT []
synonym: "Spongy Degeneration of White Matter In Infancy" EXACT []
synonym: "Spongy Disease of Central Nervous System" EXACT []
synonym: "Spongy Disease of White Matter" EXACT []
synonym: "sporadic form of Canavan disease" EXACT []
synonym: "Type I Canavan Disease" EXACT []
synonym: "Type II Canavan Disease" EXACT []
synonym: "Type III Canavan Disease" EXACT []
synonym: "Van Bogaert Bertrand Syndrome" EXACT []
synonym: "Von Bogaert Bertrand disease" EXACT []
xref: GARD:5984
xref: MESH:D017825
xref: NCI:C84611
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:3614
name: Kallmann syndrome
def: "A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26194704 "DO"]
synonym: "anosmic hypogonadism" EXACT []
synonym: "anosmic hypogonadisms" EXACT []
synonym: "anosmic idiopathic hypogonadotropic hypogonadism" EXACT []
synonym: "autosomal dominant form of Kallmann syndrome" NARROW []
synonym: "autosomal recessive form of Kallmann syndrome" NARROW []
synonym: "De Morsier-Kallman's syndrome" EXACT []
synonym: "dysplasia olfactogenitalis of De Morsier" EXACT []
synonym: "familial hypogonadism with anosmia" EXACT []
synonym: "HHA" EXACT []
synonym: "hypogonadism with anosmia" EXACT []
synonym: "Hypogonadotropic Hypogonadism and Anosmia" EXACT []
synonym: "hypogonadotropic hypogonadism, anosmia, and midline cranial anomalies (cleft lip, cleft palate and imperfect fusion)" EXACT []
synonym: "hypogonadotropic hypogonadism-anosmia syndrome" EXACT []
synonym: "Kallman's syndrome" EXACT []
synonym: "Kallmann's syndrome" EXACT []
synonym: "Kallmanns syndrome" EXACT []
synonym: "Kallman syndrome" EXACT []
synonym: "KMS" EXACT []
xref: GARD:10771
xref: MESH:D017436
xref: NCI:C75479
xref: ORDO:478
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:630 ! genetic disease
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development

[Term]
id: DOID:3615
name: infiltrating angiolipoma
def: "An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue. (DO)" [https://www.spandidos-publications.com/10.3892/ol.2014.2737 "DO"]
xref: NCI:C7449
is_a: DOID:3616 ! angiolipoma
created_by: rgd
creation_date: 2017-11-15T00:00:00Z

[Term]
id: DOID:3616
name: angiolipoma
def: "A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. (DO)" [http://en.wikipedia.org/wiki/Angiolipoma "DO"]
synonym: "angiolipomas" EXACT []
xref: EFO:1000085
xref: ICDO:8861/0
xref: MESH:D018206
xref: NCI:C3733
is_a: DOID:3315 ! lipoma
is_a: DOID:9008378 ! Adipose Tissue Neoplasms

[Term]
id: DOID:3617
name: epidural spinal canal angiolipoma
synonym: "angiolipoma of extradural spinal canal" EXACT []
xref: NCI:C5424
is_a: DOID:13743 ! spinal cord lipoma
is_a: DOID:3616 ! angiolipoma
created_by: rgd
creation_date: 2017-11-15T00:00:00Z

[Term]
id: DOID:3618
name: epidural spinal canal neoplasm
def: "Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." [MESH:D015174]
synonym: "epidural neoplasm" EXACT []
synonym: "epidural neoplasms" EXACT []
synonym: "Epidural Tumor" EXACT []
synonym: "Epidural Tumors" EXACT []
synonym: "extradural tumor" EXACT []
synonym: "Malignant Epidural Neoplasm" EXACT []
synonym: "Malignant Epidural Neoplasms" EXACT []
xref: EFO:1000923
xref: MESH:D015174
xref: NCI:C3019
is_a: DOID:5612 ! spinal cancer
is_a: DOID:9006391 ! Spinal Cord Neoplasms

[Term]
id: DOID:3620
name: central nervous system cancer
def: "A nervous system cancer that is located_in the central nervous system. (DO)" [http://en.wikipedia.org/wiki/Central_nervous_system "DO"]
synonym: "CNS neoplasm" EXACT []
synonym: "malignant neoplasm of central nervous system" EXACT []
synonym: "malignant tumor of CNS" EXACT []
xref: EFO:0000326
xref: ICD10CM:C72.9
xref: NCI:C4627
is_a: DOID:3093 ! nervous system cancer
is_a: DOID:9007701 ! Central Nervous System Neoplasms

[Term]
id: DOID:3627
name: aortic aneurysm
def: "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. (DO)" [http://en.wikipedia.org/wiki/Aortic_aneurysm "DO"]
synonym: "Aortic Aneurysms" EXACT []
synonym: "AORTIC DILATATION" EXACT []
synonym: "ASCENDING AORTIC DILATION" NARROW []
synonym: "FAMILIAL AORTIC ANEURYSMS" NARROW []
xref: EFO:0001666
xref: ICD10CM:I71.1
xref: ICD10CM:I71.3
xref: ICD10CM:I71.5
xref: ICD10CM:I71.8
xref: ICD10CM:I71.9
xref: ICD9CM:441.1
xref: ICD9CM:441.3
xref: ICD9CM:441.5
xref: ICD9CM:441.6
xref: MESH:D001014
xref: NCI:C26697
xref: NCI:C27046
xref: NCI:C27198
xref: NCI:C27299
is_a: DOID:520 ! aortic disease
is_a: DOID:9001665 ! Aneurysm

[Term]
id: DOID:363
name: uterine cancer
def: "A female reproductive organ cancer that is located_in the uterus. (DO)" [http://www.cancer.gov/dictionary?CdrID=445094 "DO"]
synonym: "CA - cancer of uterus" EXACT [SNOMEDCT_2005_07_31:93718007]
synonym: "cancer of the uterus" EXACT []
synonym: "cancer of uterus" EXACT []
synonym: "malignant neoplasm of body of uterus" EXACT []
synonym: "malignant neoplasm of uterus" EXACT []
synonym: "malignant uterine tumor" EXACT []
synonym: "uterine cancers" EXACT []
synonym: "uterus cancer" EXACT []
synonym: "uterus cancers" EXACT []
xref: EFO:0003859
xref: ICD10CM:C55
xref: ICD9CM:179
xref: NCI:C3435
xref: NCI:C3552
is_a: DOID:120 ! female reproductive organ cancer
is_a: DOID:9004268 ! Uterine Neoplasms
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:3633
name: beta-mannosidosis
alt_id: MESH:C538599
def: "A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. (DO)" [http://en.wikipedia.org/wiki/Beta-mannosidosis "DO"]
synonym: "BETA-D-MANNOSIDOSIS" EXACT []
synonym: "beta-mannosidase deficiencies" EXACT []
synonym: "beta Mannosidase Deficiency" EXACT []
synonym: "beta-Mannosidoses" EXACT []
synonym: "Lysosomal beta A Mannosidosis" EXACT []
synonym: "Lysosomal beta-Mannosidase Deficiencies" EXACT []
synonym: "lysosomal beta-mannosidase deficiency" EXACT []
xref: GARD:869
xref: MESH:D044905
xref: MIM:248510
xref: MONDO:0009562
xref: NCI:C84596
is_a: DOID:3211 ! lysosomal storage disease
is_a: DOID:9003847 ! Mannosidase Deficiency Diseases

[Term]
id: DOID:3635
name: congenital myasthenic syndrome
alt_id: OMIA:000685
def: "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). (DO)" [http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590 "DO"]
synonym: "congenital myasthenia" EXACT []
synonym: "congenital myasthenia gravi" EXACT []
synonym: "congenital myasthenia gravis" EXACT []
synonym: "congenital myasthenic syndrome, CHRNE-related" NARROW []
synonym: "congenital myasthenic syndrome, dominant/recessive" EXACT []
synonym: "congenital myasthenic syndrome, due to CHRNE" NARROW []
synonym: "congenital myasthenic syndrome, recessive" NARROW []
synonym: "congenital myasthenic syndromes" EXACT []
synonym: "congenital slow-channel myasthenic syndrome" EXACT []
synonym: "congenital slow channel myasthenic syndromes" EXACT []
synonym: "familial limb-girdle myasthenia" EXACT []
synonym: "postsynaptic congenital myasthenic syndromes" NARROW []
synonym: "presynaptic congenital myasthenic syndromes" NARROW []
synonym: "SYNAPTIC CONGENITAL MYASTHENIC SYNDROME" EXACT []
synonym: "SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES" EXACT []
xref: EFO:0020041
xref: GARD:11902
xref: MESH:D020294
xref: MIM:PS601462
xref: MIM:PS610542
xref: NCI:C84647
xref: ORDO:590
is_a: DOID:0080015 ! physical disorder
is_a: DOID:439 ! neuromuscular junction disease

[Term]
id: DOID:3637
name: childhood spinal cord tumor
synonym: "childhood spinal cord neoplasm" EXACT []
xref: NCI:C9234
is_a: DOID:5612 ! spinal cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:3639
name: spinal cord intramedullary teratoma
synonym: "Intramedullary Spinal teratoma" EXACT [NCI2004_11_17:C5428]
xref: NCI:C5428
xref: RDO:9004694
is_a: DOID:3640 ! central nervous system teratoma
is_a: DOID:5612 ! spinal cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:3640
name: central nervous system teratoma
def: "A teratoma that is located_in the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21150046 "DO"]
synonym: "CNS teratoma" EXACT []
xref: NCI:C5441
is_a: DOID:3307 ! teratoma
is_a: DOID:4439 ! central nervous system germ cell tumor
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:3641
name: conus medullaris neoplasm
synonym: "tumor of Conus Medullaris" EXACT [NCI2004_11_17:C5443]
xref: NCI:C5443
xref: RDO:9004687
is_a: DOID:5612 ! spinal cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:3642
name: empty sella syndrome
def: "A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." [MESH:D004652]
synonym: "empty sella syndromes" EXACT []
synonym: "Empty Sella Turcica" EXACT []
synonym: "Empty Sella Turcicas" EXACT []
synonym: "Empty Sella Turcica Syndrome" EXACT []
synonym: "Primary Empty Sella Syndrome" EXACT []
synonym: "secondary empty sella syndrome" EXACT []
xref: EFO:1000914
xref: GARD:6331
xref: MESH:D004652
xref: NCI:C84686
is_a: DOID:225 ! syndrome
is_a: DOID:53 ! pituitary gland disease

[Term]
id: DOID:3643
name: sella turcica neoplasm
synonym: "tumor of sella turcica" EXACT []
xref: NCI:C4944
xref: RDO:9004635
is_a: DOID:3842 ! skull base cancer

[Term]
id: DOID:3644
name: hypothalamic neoplasm
def: "Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)" [MESH:D007029]
synonym: "Benign Hypothalamic Neoplasm" EXACT []
synonym: "Benign Hypothalamic Neoplasms" EXACT []
synonym: "Hypothalamic Cancer" EXACT []
synonym: "Hypothalamic Cancers" EXACT []
synonym: "Hypothalamic-Chiasmatic Neoplasm" EXACT []
synonym: "Hypothalamic Chiasmatic Neoplasms" EXACT []
synonym: "hypothalamic neoplasms" EXACT []
synonym: "Hypothalamic-Pituitary Neoplasm" EXACT []
synonym: "Hypothalamic Pituitary Neoplasms" EXACT []
synonym: "Hypothalamic Teratoma" EXACT []
synonym: "Hypothalamic Teratomas" EXACT []
synonym: "Hypothalamic Tumor" EXACT []
synonym: "Hypothalamic Tumors" EXACT []
synonym: "Hypothalamo-Neurohypophysial Region Neoplasm" EXACT []
synonym: "Hypothalamo Neurohypophysial Region Neoplasms" EXACT []
synonym: "Hypothalamus Neoplasm" EXACT []
synonym: "Hypothalamus Neoplasms" EXACT []
synonym: "Hypothalamus Tumor" EXACT []
synonym: "Hypothalamus Tumors" EXACT []
synonym: "Malignant Hypothalamic Neoplasm" EXACT []
synonym: "Malignant Hypothalamic Neoplasms" EXACT []
synonym: "neoplasm of the hypothalamus" EXACT []
synonym: "tumor of hypothalamus" EXACT []
xref: EFO:1000979
xref: MESH:D007029
xref: NCI:C3129
is_a: DOID:1931 ! hypothalamic disease
is_a: DOID:3843 ! diencephalic neoplasm

[Term]
id: DOID:3646
name: necrosis of pituitary
synonym: "pituitary necrosis" EXACT []
xref: NCI:C27066
xref: RDO:9004129
is_a: DOID:53 ! pituitary gland disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3649
name: pyruvate decarboxylase deficiency
alt_id: MIM:312170
alt_id: OMIA:001406
def: "A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. (DO)" [http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency "DO", http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract "DO"]
synonym: "ataxia with lactic acidosis" EXACT []
synonym: "Ataxia with Lactic Acidosis I" EXACT []
synonym: "deficiency of pyruvic dehydrogenase" EXACT []
synonym: "intermittent ataxia with abnormal pyruvate metabolism" EXACT []
synonym: "intermittent ataxia with pyruvate dehydrogenase deficiency" EXACT []
synonym: "intermittent ataxia with pyruvate dehydrogenase, or decarboxylase deficiency" EXACT []
synonym: "Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease" EXACT []
synonym: "LACTIC ACIDEMIA, THIAMINE-RESPONSIVE" NARROW []
synonym: "Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease" EXACT []
synonym: "PDHAD" EXACT []
synonym: "PDHC Deficiency" EXACT []
synonym: "PDHC Deficiency Disease" EXACT []
synonym: "PDH Deficiency" EXACT []
synonym: "pyruvate dehydrogenase complex deficiency" EXACT []
synonym: "pyruvate dehydrogenase complex deficiency disease" EXACT []
synonym: "pyruvate dehydrogenase deficiency" EXACT []
synonym: "type I ataxia with lactic acidosis" EXACT []
xref: EFO:0007459
xref: GARD:4620
xref: GARD:7513
xref: ICD10CM:E74.4
xref: MESH:D015325
xref: MIM:PS312170
xref: NCI:C103968
xref: ORDO:79243
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:365
name: bladder disease
def: "A urinary system disease that is located_in the bladder. (DO)" [http://www.nlm.nih.gov/medlineplus/bladderdiseases.html "DO"]
synonym: "bladder diseases" EXACT []
synonym: "urinary bladder disease" EXACT []
synonym: "urinary bladder diseases" EXACT []
xref: EFO:1000018
xref: ICD10CM:N32.9
xref: ICD9CM:596.9
xref: MESH:D001745
xref: NCI:C2900
is_a: DOID:18 ! urinary system disease

[Term]
id: DOID:3650
name: lactic acidosis
def: "A metabolic acidosis characterized by buildup of lactate. (DO)" [http://en.wikipedia.org/wiki/Lactic_acidosis "DO"]
synonym: "SEIZURES AND LACTIC ACIDOSIS" NARROW []
xref: EFO:1000036
xref: ICD10CM:E87.20
xref: MESH:D000140
xref: NCI:C98969
is_a: DOID:0050758 ! metabolic acidosis

[Term]
id: DOID:3651
name: pyruvate carboxylase deficiency disease
alt_id: MIM:266150
def: "A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. (DO)" [http://omim.org/entry/266150 "DO", https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency "DO"]
synonym: "ataxia with lactic acidosis 2" EXACT []
synonym: "ataxia with lactic acidosis II" EXACT []
synonym: "deficiency of pyruvic carboxylase" EXACT []
synonym: "PC deficiency" EXACT []
synonym: "pyruvate carboxylase deficiency" EXACT []
synonym: "type II ataxia with lactic acidosis" EXACT []
xref: EFO:1001142
xref: MESH:D015324
xref: NCI:C85040
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn

[Term]
id: DOID:3652
name: Leigh disease
def: "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. (DO)" [http://en.wikipedia.org/wiki/Leigh%27s_disease "DO", http://ghr.nlm.nih.gov/condition/leigh-syndrome "DO", https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ "DO", https://rarediseases.org/rare-diseases/leigh-syndrome/ "DO"]
synonym: "infantile Leigh disease" EXACT []
synonym: "infantile necrotizing encephalomyelopathy" EXACT []
synonym: "infantile subacute necrotizing encephalopathy" EXACT []
synonym: "Juvenile Leigh Disease" EXACT []
synonym: "juvenile subacute necrotizing encephalomyelopathy" EXACT []
synonym: "Juvenile Subacute Necrotizing Encephalopathy" EXACT []
synonym: "Leigh's Disease" EXACT []
synonym: "Leighs Disease" EXACT []
synonym: "Leigh Syndrome" EXACT []
synonym: "LS" EXACT []
synonym: "subacute necrotising encephalopathy of Leigh" EXACT []
synonym: "subacute necrotizing encephalomyelitides" EXACT []
synonym: "Subacute Necrotizing Encephalomyelitis" EXACT []
synonym: "Subacute Necrotizing Encephalomyelitis, Infantile" EXACT []
synonym: "Subacute Necrotizing Encephalomyelopathies" EXACT []
synonym: "subacute necrotizing encephalomyelopathy" EXACT []
synonym: "subacute necrotizing encephalopathies" EXACT []
synonym: "subacute necrotizing encephalopathy" EXACT []
xref: GARD:6877
xref: ICD10CM:G31.82
xref: MESH:D007888
xref: MIM:256000
xref: MONDO:0009723
xref: NCI:C84814
xref: OMIA:001097
xref: ORDO:506
is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease
is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn

[Term]
id: DOID:3659
name: sialuria
alt_id: MIM:269921
alt_id: MIM:604369
def: "A lysosomal storage disease characterized by increased sialic acid in the urine. (DO)" [http://en.wikipedia.org/wiki/Sialuria "DO", http://www.ncbi.nlm.nih.gov/books/NBK1164/ "DO", http://www.omim.org/entry/269921 "DO"]
synonym: "Finnish Type Sialuria" EXACT []
synonym: "Finnish type sialurias" EXACT []
synonym: "NSD" EXACT []
synonym: "Salla Disease" EXACT []
synonym: "SD" EXACT []
synonym: "Sialic Acid Storage Disease" EXACT []
synonym: "Sialic Acid Storage Disease, Finnish Type" EXACT []
synonym: "sialurias" EXACT []
xref: MESH:D029461
xref: NCI:C85067
is_a: DOID:9008012 ! Lysosomal Storage Diseases, Nervous System

[Term]
id: DOID:3660
name: wheat allergy
def: "A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis. (DO)" [https://www.mayoclinic.org/diseases-conditions/wheat-allergy/symptoms-causes/syc-20378897 "DO"]
synonym: "allergy to wheat" EXACT []
synonym: "wheat allergic reaction" EXACT []
synonym: "Wheat Allergies" EXACT []
synonym: "wheat hypersensitivities" EXACT []
synonym: "wheat hypersensitivity" EXACT []
xref: EFO:1001243
xref: MESH:D021182
is_a: DOID:3044 ! food allergy

[Term]
id: DOID:3663
name: cutaneous mastocytosis
def: "Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." [MESH:D034701]
synonym: "bullous mastocytoses" EXACT []
synonym: "Bullous Mastocytosis" EXACT []
synonym: "CM" EXACT []
synonym: "Cutaneous Mastocytoses" EXACT []
synonym: "Skin Mastocytoses" EXACT []
synonym: "skin mastocytosis" EXACT []
xref: EFO:1000886
xref: GARD:7842
xref: MESH:D034701
xref: NCI:C7137
is_a: DOID:350 ! mastocytosis

[Term]
id: DOID:3664
name: mast cell neoplasm
def: "A hematologic cancer that has_material_basis_in mast cells. (DO)" [http://en.wikipedia.org/wiki/Mastocytoma "DO", http://www.cancer.gov/dictionary?CdrID=410729 "DO"]
synonym: "mast cell proliferative disease" EXACT []
synonym: "mast cell tumor" EXACT []
synonym: "mastocytoma" EXACT []
xref: EFO:0009000
xref: NCI:C129077
xref: NCI:C21632
xref: NCI:C9295
is_a: DOID:0050687 ! cell type cancer
is_a: DOID:2531 ! hematologic cancer

[Term]
id: DOID:3665
name: diffuse cutaneous mastocytosis
xref: GARD:12686
xref: ICD10CM:D47.01
xref: NCI:C3218
is_a: DOID:3663 ! cutaneous mastocytosis
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:3666
name: solitary mastocytoma of the skin
def: "A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter. (DO)" [https://www.sciencedirect.com/science/article/pii/B9781416030317000127 "DO"]
synonym: "cutaneous solitary mastocytoma" EXACT []
synonym: "skin mastocytoma" EXACT []
synonym: "solitary mastocytoma" EXACT []
synonym: "solitary mastocytoma of skin" EXACT []
xref: EFO:1001844
xref: MESH:D054705
xref: NCI:C7138
is_a: DOID:3663 ! cutaneous mastocytosis
is_a: DOID:4659 ! extracutaneous mastocytoma

[Term]
id: DOID:3669
name: intermittent claudication
def: "A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE." [MESH:D007383]
synonym: "Charcot's syndrome" EXACT []
synonym: "intermittent vascular claudication" EXACT []
xref: EFO:0003876
xref: ICD10CM:I73.9
xref: MESH:D007383
is_a: DOID:2349 ! arteriosclerosis
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:367
name: olfactory nerve disease
def: "A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell. (DO)" [https://en.wikipedia.org/wiki/Olfactory_nerve "DO"]
synonym: "Cranial Nerve I Diseases" EXACT []
synonym: "Cranial Nerve I Disorders" EXACT []
synonym: "disorder of 1st nerve" EXACT []
synonym: "disorder of olfactory [1st] nerve" EXACT []
synonym: "disorder of olfactory nerve" EXACT []
synonym: "First Cranial Nerve Diseases" EXACT []
synonym: "olfactory nerve diseases" EXACT []
xref: ICD10CM:G52.0
xref: ICD9CM:352.0
xref: MESH:D020431
xref: NCI:C27210
is_a: DOID:3418 ! glossopharyngeal nerve disease
is_a: DOID:5656 ! cranial nerve disease

[Term]
id: DOID:3671
name: pericoronitis
def: "Inflammation of the gingiva surrounding the crown of a tooth." [MESH:D010497]
synonym: "Pericoronitides" EXACT []
xref: EFO:1001098
xref: MESH:D010497
is_a: DOID:1483 ! gingival disease

[Term]
id: DOID:3672
name: rhabdoid cancer
def: "A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system. (DO)" [https://rarediseases.info.nih.gov/diseases/7572/rhabdoid-tumor "DO"]
synonym: "malignant rhabdoid tumour" EXACT []
synonym: "Rhabdoid sarcoma" EXACT []
synonym: "rhabdoid tumor" EXACT []
synonym: "rhabdoid tumors" EXACT []
xref: EFO:0005701
xref: GARD:7572
xref: MESH:D018335
xref: MIM:PS609322
xref: NCI:C3808
xref: ORDO:69077
is_a: DOID:3675 ! childhood kidney cancer
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:3674
name: kidney rhabdoid cancer
def: "A embryonal cancer that is located in the kidney. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32853941/ "DO"]
synonym: "kidney rhabdoid tumor" EXACT []
synonym: "renal rhabdoid tumor" EXACT []
synonym: "rhabdoid tumor of the kidney" EXACT []
xref: EFO:1000512
xref: NCI:C8715
is_a: DOID:3672 ! rhabdoid cancer
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:3675
name: childhood kidney cancer
synonym: "pediatric renal tumor" EXACT [NCI2004_11_17:C6563]
xref: ICD-O:M8000/3
xref: NCI:C6563
xref: RDO:9005107
is_a: DOID:263 ! kidney cancer
created_by: rgd
creation_date: 2017-11-15T00:00:00Z

[Term]
id: DOID:3677
name: pulmonary plasma cell granuloma
def: "A lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2336294/ "DO"]
synonym: "Inflammatory Pseudotumor of Lung" EXACT []
synonym: "Inflammatory Pulmonary Pseudotumor" EXACT []
synonym: "Inflammatory Pulmonary Pseudotumors" EXACT []
synonym: "lymphocytic pseudotumor of lung" EXACT []
synonym: "Plasma Cell Granuloma of Lung" EXACT []
synonym: "sclerosing hemangiocytoma of lung" EXACT []
xref: EFO:1001135
xref: MESH:D016726
is_a: DOID:850 ! lung disease

[Term]
id: DOID:368
name: cerebrum cancer
def: "A supratentorial cancer that is located_in the cerebrum. (DO)" [http://en.wikipedia.org/wiki/Cerebrum "DO"]
synonym: "cerebral cancer" EXACT []
synonym: "neoplasm of cerebrum" EXACT []
synonym: "tumor of cerebrum" EXACT []
xref: ICD9CM:191.8
xref: NCI:C4874
is_a: DOID:1659 ! supratentorial cancer
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3683
name: lung benign neoplasm
synonym: "tumor of the lung" EXACT [NCI2004_11_17:C3200]
xref: NCI:C3200
xref: RDO:9001993
is_a: DOID:0050621 ! respiratory system benign neoplasm
is_a: DOID:9005172 ! Lung Neoplasms
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:3687
name: MELAS syndrome
alt_id: MIM:540000
def: "A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. (DO)" [https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes "DO"]
synonym: "JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE" EXACT []
synonym: "MELAS" EXACT []
synonym: "Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes" EXACT []
synonym: "Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes" EXACT []
synonym: "mitochondrial myopathy-encephalopathy-lactic acidosis-stroke" EXACT []
synonym: "Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode" EXACT []
synonym: "PARKINSONISM/MELAS OVERLAP SYNDROME" NARROW []
xref: EFO:0000192
xref: ICD10CM:E88.41
xref: MESH:D017241
xref: MONDO:0010789
xref: NCI:C84885
is_a: DOID:0112313 ! brain small vessel disease
is_a: DOID:225 ! syndrome
is_a: DOID:890 ! mitochondrial encephalomyopathy
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn

[Term]
id: DOID:3688
name: plexopathy
xref: EFO:0009559
xref: NCI:C27744
is_a: DOID:1289 ! neurodegenerative disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:3689
name: brachial plexus neuritis
alt_id: MIM:162100
def: "A brachial plexus neuropathy that affects the chest, shoulder, arm and hand. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/brachial-neuritis "DO"]
synonym: "Amyotrophic Neuralgia" EXACT []
synonym: "amyotrophic neuralgias" EXACT []
synonym: "Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus" EXACT []
synonym: "Brachial Neuralgia" EXACT []
synonym: "brachial neuralgias" EXACT []
synonym: "brachial neuritides" EXACT []
synonym: "Brachial Neuritis" EXACT []
synonym: "Brachial Plexus Neuritides" EXACT []
synonym: "Cervico Brachial Neuralgia" EXACT []
synonym: "Cervicobrachial Neuralgia" EXACT []
synonym: "Cervico-Brachial Neuralgias" EXACT []
synonym: "Cervicobrachial Neuralgias" EXACT []
synonym: "Familial Brachial Plexus Neuritis" EXACT []
synonym: "Hereditary Brachial Plexus Neuropathy" EXACT []
synonym: "Hereditary Neuralgic Amyotrophies" EXACT []
synonym: "Hereditary Neuralgic Amyotrophy" EXACT []
synonym: "HEREDITARY NEURALGIC AMYOTROPHY (HNA)" EXACT []
synonym: "HEREDITARY SODIUM CHANNELOPATHY-RELATED SMALL FIBERS NEUROPATHY" BROAD []
synonym: "Heredofamilial Neuritis with Brachial Plexus Predilection" EXACT []
synonym: "HNA" EXACT []
synonym: "NAPB" EXACT []
synonym: "neuritis with brachial predilection" EXACT []
synonym: "Parsonage Aldren Turner Syndrome" EXACT []
synonym: "Parsonage Turner Syndrome" EXACT []
synonym: "shoulder girdle neuropathies" EXACT []
synonym: "shoulder girdle neuropathy" EXACT []
xref: EFO:1000843
xref: ICD10CM:G54.5
xref: MESH:D020968
xref: NCI:C84600
is_a: DOID:1803 ! neuritis
is_a: DOID:225 ! syndrome
is_a: DOID:3690 ! brachial plexus neuropathy

[Term]
id: DOID:369
name: olfactory neuroblastoma
def: "A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. It is uncommon (3% of nasal tumors) and rarely is associated with the production of excess hormones (e.g., SIADH, Cushing Syndrome). It has a high propensity for multiple local recurrences and bony metastases. (From Holland et al., Cancer Medicine, 3rd ed, p1245; J Laryngol Otol 1998 Jul;112(7):628-33)" [MESH:D018304]
synonym: "Aesthesioneuroblastoma" EXACT []
synonym: "aesthesioneuroblastomas" EXACT []
synonym: "asthesioneuroblastoma" EXACT []
synonym: "Esthesioneuroblastoma" EXACT []
synonym: "Esthesioneuroblastomas" EXACT []
synonym: "esthesioneuroepithelioma" EXACT []
synonym: "olfactory esthesioneuroblastoma" EXACT []
synonym: "Olfactory Esthesioneuroblastomas" EXACT []
synonym: "Olfactory Neuroblastomas" EXACT []
synonym: "paranasal sinus nasal cavity esthesioneuroblastoma" EXACT []
synonym: "paranasal sinus olfactory neuroblastoma" EXACT []
xref: EFO:1000407
xref: GARD:2197
xref: ICDO:9522/3
xref: MESH:D018304
xref: NCI:C3789
xref: NCI:C6016
is_a: DOID:367 ! olfactory nerve disease
is_a: DOID:370 ! malignant olfactory nerve neoplasm
is_a: DOID:769 ! neuroblastoma

[Term]
id: DOID:3690
name: brachial plexus neuropathy
def: "A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30688233/ "DO", https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061 "DO"]
synonym: "brachial plexopathies" EXACT []
synonym: "Brachial Plexopathy" EXACT []
synonym: "Brachial Plexus Disease" EXACT []
synonym: "brachial plexus diseases" EXACT []
synonym: "Brachial Plexus Disorder" EXACT []
synonym: "brachial plexus disorders" EXACT []
synonym: "Brachial Plexus Neuropathies" EXACT []
synonym: "Dejerine Klumpke Palsy" EXACT []
synonym: "Erb's Palsies" EXACT []
synonym: "Erb's Palsy" EXACT []
synonym: "Erb-Duchenne Paralyses" EXACT []
synonym: "Erb Duchenne Paralysis" EXACT []
synonym: "Erb Palsy" EXACT []
synonym: "Erb Paralyses" EXACT []
synonym: "Erb Paralysis" EXACT []
synonym: "Erbs Palsy" EXACT []
synonym: "Klumpke's Palsy" EXACT []
synonym: "Klumpke Palsy" EXACT []
synonym: "Klumpke Paralysis" EXACT []
synonym: "Klumpkes Palsy" EXACT []
synonym: "Lower Brachial Plexus Neuropathy" EXACT []
synonym: "Lower Brachial Plexus Palsy" EXACT []
synonym: "Middle Brachial Plexus Neuropathy" EXACT []
synonym: "Paralysis of the Lower Brachial Plexus" EXACT []
synonym: "upper brachial plexus neuropathy" EXACT []
xref: EFO:1000844
xref: ICD10CM:G54.0
xref: MESH:D020516
xref: NCI:C27194
is_a: DOID:870 ! neuropathy

[Term]
id: DOID:3691
name: anal colloid adenocarcinoma
def: "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "mucinous adenocarcinoma of anus" EXACT [NCI2004_11_17:C5606]
xref: NCI:C5606
xref: RDO:9004071
is_a: DOID:3030 ! mucinous adenocarcinoma
is_a: DOID:3447 ! anus adenocarcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:3692
name: anal canal adenocarcinoma
def: "An anal canal cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of anal canal" EXACT []
synonym: "adenocarcinoma of the anal canal" EXACT []
xref: NCI:C7471
is_a: DOID:0050913 ! large intestine adenocarcinoma
is_a: DOID:6126 ! anal canal carcinoma
created_by: rgd
creation_date: 2017-11-15T00:00:00Z

[Term]
id: DOID:3693
name: ampulla of Vater mucinous adenocarcinoma
xref: NCI:C27416
is_a: DOID:3502 ! ampulla of Vater adenocarcinoma
is_a: DOID:3698 ! bile duct mucinous adenocarcinoma
created_by: rgd
creation_date: 2017-09-26T00:00:00Z

[Term]
id: DOID:3696
name: acute sanguinous otitis media
def: "A acute transudative otitis media which involves bloody effusion. (DO)" [http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false "DO"]
xref: ICD9CM:381.03
xref: RDO:9003857
is_a: DOID:3697 ! acute transudative otitis media

[Term]
id: DOID:3697
name: acute transudative otitis media
def: "A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. (DO)" [http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 "DO"]
synonym: "acute non-suppurative otitis media" EXACT []
synonym: "acute nonsuppurative otitis media" EXACT []
synonym: "acute otitis media with effusion" EXACT []
synonym: "acute secretory otitis media" EXACT []
xref: ICD9CM:381.0
is_a: DOID:11180 ! non-suppurative otitis media
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3698
name: bile duct mucinous adenocarcinoma
synonym: "mucinous carcinoma of the bile duct" EXACT []
xref: NCI:C5846
is_a: DOID:3030 ! mucinous adenocarcinoma
is_a: DOID:4896 ! bile duct adenocarcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:3699
name: uterine ligament mucinous adenocarcinoma
def: "A uterine ligament adenocarcinoma that produces mucin. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf "DO"]
xref: NCI:C40137
is_a: DOID:3030 ! mucinous adenocarcinoma
is_a: DOID:3700 ! uterine ligament adenocarcinoma

[Term]
id: DOID:37
name: skin disease
def: "An integumentary system disease that is located_in skin. (DO)" [http://en.wikipedia.org/wiki/Skin_disease "DO"]
synonym: "dermatoses" EXACT []
synonym: "dermatosis" EXACT []
synonym: "disturbance of skin sensation" NARROW []
synonym: "genodermatosis" EXACT []
synonym: "neonatal erythema toxicum" NARROW []
synonym: "skin and subcutaneous tissue disease" EXACT []
synonym: "skin diseases" EXACT []
synonym: "skin disorder" EXACT []
xref: EFO:0000701
xref: EFO:0009522
xref: EFO:0010687
xref: ICD9CM:702
xref: MESH:D012871
xref: NCI:C156032
xref: NCI:C27554
xref: NCI:C3371
is_a: DOID:0050155 ! sensory system disease
is_a: DOID:16 ! integumentary system disease
is_a: DOID:9003003 ! Skin and Connective Tissue Diseases

[Term]
id: DOID:370
name: malignant olfactory nerve neoplasm
synonym: "malignant olfactory nerve tumor" EXACT []
synonym: "malignant tumor of olfactory nerve" EXACT []
synonym: "primary malignant neoplasm of olfactory nerve" EXACT []
xref: ICD10CM:C72.2
xref: NCI:C4768
is_a: DOID:2815 ! cranial nerve malignant neoplasm
created_by: mtutaj
creation_date: 2021-10-01T11:59:17Z

[Term]
id: DOID:3700
name: uterine ligament adenocarcinoma
def: "A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26699941 "DO"]
xref: NCI:C40135
is_a: DOID:5727 ! uterine ligament cancer

[Term]
id: DOID:3701
name: cervical mucinous adenocarcinoma
def: "A cervical adenocarcinoma that derives_from mucin producing epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24199926 "DO"]
xref: NCI:C36095
is_a: DOID:3030 ! mucinous adenocarcinoma
is_a: DOID:3702 ! cervical adenocarcinoma

[Term]
id: DOID:3702
name: cervical adenocarcinoma
def: "A cervix carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma cervix uteri" EXACT []
synonym: "adenocarcinoma of cervix" EXACT []
synonym: "adenocarcinoma of the uterine cervix" EXACT []
xref: EFO:0001416
xref: NCI:C4029
is_a: DOID:2893 ! cervix carcinoma
is_a: DOID:299 ! adenocarcinoma

[Term]
id: DOID:3703
name: prostate colloid adenocarcinoma
def: "A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11145249 "DO"]
synonym: "acinar colloid prostate adenocarcinoma" EXACT []
synonym: "acinar prostate mucinous adenocarcinoma" EXACT []
synonym: "colloid adenocarcinoma of prostate" EXACT []
synonym: "colloidal adenocarcinoma of prostate" EXACT []
synonym: "mucinous adenocarcinoma of prostate" EXACT []
synonym: "prostate acinar mucinous adenocarcinoma" EXACT []
xref: EFO:1000065
xref: NCI:C5537
is_a: DOID:2526 ! prostate adenocarcinoma
is_a: DOID:3030 ! mucinous adenocarcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:3704
name: fallopian tube mucinous adenocarcinoma
def: "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987967/ "DO"]
xref: NCI:C40103
is_a: DOID:3030 ! mucinous adenocarcinoma
is_a: DOID:3706 ! fallopian tube adenocarcinoma
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:3705
name: fallopian tube mucinous tumor
def: "A fallopian tube benign neoplasm that produces mucin. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26894303/ "DO"]
xref: NCI:C40109
is_a: DOID:0060111 ! fallopian tube benign neoplasm
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:3706
name: fallopian tube adenocarcinoma
def: "A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of the fallopian tube" EXACT [NCI2004_11_17:C6265]
xref: NCI:C6265
xref: RDO:9002515
is_a: DOID:1963 ! fallopian tube carcinoma
is_a: DOID:299 ! adenocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:3707
name: endometrial mucinous adenocarcinoma
def: "An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22569105 "DO"]
synonym: "uterine corpus mucinous adenocarcinoma" EXACT []
xref: EFO:1000236
xref: NCI:C40144
is_a: DOID:2870 ! endometrial adenocarcinoma
is_a: DOID:3030 ! mucinous adenocarcinoma
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:3709
name: rectum mucinous adenocarcinoma
def: "A rectal adenocarcinoma that produces mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110493/ "DO"]
synonym: "colloidal adenocarcinoma of rectum" EXACT []
xref: NCI:C7973
is_a: DOID:1996 ! rectum adenocarcinoma
is_a: DOID:3030 ! mucinous adenocarcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:371
name: extracranial neuroblastoma
xref: NCI:C5437
is_a: DOID:769 ! neuroblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3710
name: bladder colloid adenocarcinoma
xref: NCI:C39837
is_a: DOID:3030 ! mucinous adenocarcinoma
is_a: DOID:3711 ! bladder adenocarcinoma
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:3711
name: bladder adenocarcinoma
def: "A bladder carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of bladder" RELATED []
synonym: "adenocarcinoma of the urinary bladder" RELATED []
synonym: "bladder adenocarcinoma, Not Otherwise Specified" EXACT [NCI2004_11_17:C39836]
xref: EFO:1000125
xref: NCI:C39836
xref: NCI:C4032
xref: RDO:9001956
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4007 ! bladder carcinoma
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:3713
name: ovary adenocarcinoma
def: "An ovarian carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of the ovary" RELATED []
synonym: "ovarian adenoacanthoma" EXACT []
synonym: "ovarian adenocarcinoma" EXACT []
xref: EFO:0006460
xref: NCI:C129858
xref: NCI:C7700
xref: RDO:9002507
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4001 ! ovarian carcinoma

[Term]
id: DOID:3716
name: mucinous stomach adenocarcinoma
synonym: "mucinous adenocarcinoma of the stomach" EXACT []
xref: EFO:1000386
xref: NCI:C5248
is_a: DOID:3030 ! mucinous adenocarcinoma
is_a: DOID:6217 ! gastric diffuse adenocarcinoma
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:3717
name: gastric adenocarcinoma
def: "A stomach carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of stomach" EXACT []
synonym: "cancer of stomach, adenocarcinoma" EXACT []
synonym: "gastric intestinal type adenocarcinoma" NARROW []
synonym: "stomach adenocarcinoma" EXACT []
xref: EFO:0000503
xref: EFO:0000504
xref: NCI:C24227
xref: NCI:C4004
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:5517 ! stomach carcinoma
created_by: rgd
creation_date: 2017-06-09T00:00:00Z

[Term]
id: DOID:3720
name: extramedullary plasmacytoma
synonym: "extraosseous plasmacytoma" EXACT []
xref: ICD10CM:C90.2
xref: NCI:C4002
is_a: DOID:3721 ! plasmacytoma
created_by: rgd
creation_date: 2017-10-10T00:00:00Z

[Term]
id: DOID:3721
name: plasmacytoma
def: "Any discrete, presumably solitary, mass of neoplastic PLASMA CELLS either in BONE MARROW or various extramedullary sites." [MESH:D010954]
synonym: "Plasma Cell Tumor" EXACT []
synonym: "Plasma Cell Tumors" EXACT []
synonym: "Plasmacytomas" EXACT []
synonym: "Plasmocytoma" EXACT []
synonym: "Plasmocytomas" EXACT []
synonym: "solitary myeloma" EXACT []
synonym: "solitary plasmacytoma" EXACT []
xref: EFO:0006738
xref: ICD10CM:C90.3
xref: ICDO:9731/3
xref: MESH:D010954
xref: NCI:C21631
xref: NCI:C6932
xref: NCI:C9349
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:6536 ! plasma cell neoplasm

[Term]
id: DOID:3722
name: solitary osseous plasmacytoma
synonym: "isolated osseous plasmacytoma" EXACT []
synonym: "solitary plasmacytoma of bone" EXACT []
xref: NCI:C7812
is_a: DOID:3721 ! plasmacytoma
created_by: rgd
creation_date: 2017-10-10T00:00:00Z

[Term]
id: DOID:3723
name: solitary plasmacytoma of chest wall
synonym: "solitary plasmacytoma of the chest wall" EXACT []
xref: NCI:C6711
is_a: DOID:3721 ! plasmacytoma
is_a: DOID:6758 ! chest wall lymphoma
created_by: rgd
creation_date: 2017-10-10T00:00:00Z

[Term]
id: DOID:3728
name: acute allergic sanguinous otitis media
def: "A acute sanguinous otitis media caused by an allergen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15301306 "DO"]
xref: ICD9CM:381.06
is_a: DOID:1205 ! allergic disease
is_a: DOID:3696 ! acute sanguinous otitis media
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3733
name: theileriasis
def: "A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks. (DO)" [http://en.wikipedia.org/wiki/East_Coast_fever "DO"]
synonym: "Corridor Disease" EXACT []
synonym: "East Coast Fever" EXACT []
synonym: "infection by Theileria" EXACT []
synonym: "Theileriases" EXACT []
synonym: "Theilerioses" EXACT []
synonym: "Theileriosis" EXACT []
xref: EFO:0007506
xref: MESH:D013801
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9004157 ! Protozoan Infections, Animal
is_a: DOID:9004723 ! Cattle Diseases

[Term]
id: DOID:3737
name: verrucous carcinoma
def: "A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium. (DO)" [http://en.wikipedia.org/wiki/Verrucous_carcinoma "DO"]
synonym: "verrucous carcinomas" EXACT []
synonym: "verrucous squamous carcinoma" EXACT []
synonym: "verrucous squamous cell carcinoma" EXACT []
synonym: "Warty carcinoma" EXACT []
xref: EFO:0007535
xref: ICDO:8051/3
xref: MESH:D018289
xref: NCI:C3781
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:305 ! carcinoma
is_a: DOID:3168 ! squamous cell neoplasm

[Term]
id: DOID:374
name: nutrition disease
def: "An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. (DO)" [http://www.who.int/topics/nutrition_disorders/en/ "DO"]
synonym: "Nutritional Disorder" EXACT []
synonym: "nutritional disorders" EXACT []
synonym: "Nutrition Disorder" EXACT []
synonym: "nutrition disorders" EXACT []
xref: EFO:0001069
xref: MESH:D009748
xref: NCI:C26836
is_a: DOID:0060158 ! acquired metabolic disease
is_a: DOID:9008231 ! Nutritional and Metabolic Diseases

[Term]
id: DOID:3740
name: vulva verrucous carcinoma
def: "A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429114/ "DO"]
synonym: "verrucous carcinoma of vulva" EXACT []
xref: NCI:C6383
is_a: DOID:2101 ! vulva squamous cell carcinoma
is_a: DOID:3737 ! verrucous carcinoma
is_a: DOID:5522 ! basaloid squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:3741
name: bladder verrucous squamous cell carcinoma
xref: NCI:C39832
is_a: DOID:3737 ! verrucous carcinoma
is_a: DOID:3742 ! bladder squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:3742
name: bladder squamous cell carcinoma
def: "A carcinoma of bladder that is manifested in squamous cells of the bladder. (DO)" [http://www.cancer.gov/cancertopics/types/bladder "DO"]
synonym: "epidermoid carcinoma of the urinary bladder" RELATED []
synonym: "squamous cell carcinoma of bladder" RELATED []
xref: EFO:1000130
xref: NCI:C4031
xref: RDO:9001958
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:4007 ! bladder carcinoma
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:3743
name: cervical verrucous carcinoma
def: "A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18214065 "DO"]
xref: NCI:C40190
is_a: DOID:3737 ! verrucous carcinoma
is_a: DOID:3744 ! cervical squamous cell carcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:3744
name: cervical squamous cell carcinoma
def: "A cervix carcinoma that has_material_basis_in squamous cells of the cervix. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO", http://www.cancer.gov/dictionary?CdrID=752829 "DO"]
synonym: "Squamous Cell Carcinoma Of Cervix" EXACT []
synonym: "squamous cell carcinoma of the Cervix Uteri" EXACT [NCI2004_11_17:C4028]
xref: EFO:1000022
xref: EFO:1000172
xref: NCI:C24077
xref: NCI:C4028
xref: RDO:9001097
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:2893 ! cervix carcinoma

[Term]
id: DOID:3747
name: esophagus verrucous carcinoma
synonym: "oesophagus verrucous carcinoma" EXACT []
synonym: "verrucous carcinoma of esophagus" EXACT []
synonym: "verrucous carcinoma of oesophagus" EXACT []
synonym: "verrucous carcinoma of the esophagus" EXACT []
xref: NCI:C27420
is_a: DOID:3737 ! verrucous carcinoma
is_a: DOID:3748 ! esophagus squamous cell carcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3748
name: esophagus squamous cell carcinoma
alt_id: MIM:133239
def: "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. (DO)" [http://www.cancer.gov/cancertopics/types/esophageal "DO"]
synonym: "ESCC, SUSCEPTIBILITY TO" RELATED []
synonym: "esophageal squamous cell carcinoma" EXACT []
synonym: "Esophageal squamous cell carcinoma, somatic" NARROW []
synonym: "LZTS1-RELATED CONDITION" NARROW []
synonym: "oesophagus squamous cell carcinoma" EXACT []
synonym: "SCC of esophagus" EXACT []
synonym: "SCC of oesophagus" EXACT []
synonym: "squamous cell carcinoma of esophagus" EXACT []
xref: EFO:0005922
xref: MESH:D000077277
xref: NCI:C191763
xref: NCI:C4024
is_a: DOID:1107 ! esophageal carcinoma
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma

[Term]
id: DOID:3749
name: urethral verrucous carcinoma
xref: NCI:C39874
is_a: DOID:3737 ! verrucous carcinoma
is_a: DOID:3750 ! urethra squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:3750
name: urethra squamous cell carcinoma
def: "A cancer of urethra that shows squamous cell differentiation. (DO)" [http://en.wikipedia.org/wiki/Squamous_cell_carcinoma "DO"]
synonym: "urethral Epidermoid carcinoma" RELATED []
xref: NCI:C6165
xref: RDO:9002366
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:734 ! urethra cancer
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:3751
name: plantar verrucous skin carcinoma
xref: NCI:C6811
is_a: DOID:3151 ! skin squamous cell carcinoma
is_a: DOID:3737 ! verrucous carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:3752
name: larynx verrucous carcinoma
synonym: "verrucous carcinoma of the larynx" EXACT []
xref: NCI:C8188
is_a: DOID:2876 ! laryngeal squamous cell carcinoma
is_a: DOID:3737 ! verrucous carcinoma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:3753
name: Hermansky-Pudlak syndrome
def: "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. (DO)" [http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome "DO", http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract "DO"]
synonym: "Hermanski-Pudlak syndrome" EXACT []
synonym: "HPS" EXACT []
xref: GARD:6643
xref: ICD10CM:E70.331
xref: MESH:D022861
xref: MIM:PS203300
xref: NCI:C37261
xref: ORDO:231531
xref: ORDO:231537
xref: ORDO:280663
xref: ORDO:79430
is_a: DOID:2223 ! platelet storage pool deficiency
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9006283 ! Syndromic Oculocutaneous Albinism

[Term]
id: DOID:3755
name: antithrombin III deficiency
alt_id: MIM:613118
def: "A thrombophilia that is characterized by the tendency to form clots in the veins. (DO)" [http://en.wikipedia.org/wiki/Antithrombin_III_deficiency "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/99/viewAbstract "DO"]
synonym: "antithrombin 3 deficiencies" EXACT []
synonym: "Antithrombin 3 Deficiency" EXACT []
synonym: "ANTITHROMBIN DEFICIENCY" EXACT []
synonym: "Antithrombin III Deficiencies" EXACT []
synonym: "AT3D" EXACT []
synonym: "AT III deficiency" EXACT []
synonym: "Congenital Antithrombin III Deficiency" EXACT []
synonym: "Hereditary Antithrombin Deficiency" EXACT []
synonym: "hereditary thrombophilia due to congenital antithrombin deficiency" EXACT []
synonym: "REDUCED ANTITHROMBIN III ACTIVITY" EXACT []
synonym: "THPH7" EXACT []
synonym: "thrombophilia due to antithrombin III deficiency" EXACT []
xref: MESH:D020152
xref: NCI:C98815
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2452 ! thrombophilia
is_a: DOID:620 ! blood protein disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:3756
name: protein C deficiency
def: "A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10942114/ "DO"]
synonym: "Hereditary Thrombophilia Due To Protein C Deficiency" EXACT []
synonym: "Protein C Deficiencies" EXACT []
xref: EFO:0009316
xref: GARD:4521
xref: MESH:D020151
xref: NCI:C99025
xref: ORDO:745
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2452 ! thrombophilia
is_a: DOID:620 ! blood protein disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:3762
name: cytochrome-c oxidase deficiency disease
def: "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. (DO)" [https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders "DO", https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/26846578 "DO"]
synonym: "complex IV deficiencies" EXACT []
synonym: "Complex IV Deficiency" EXACT []
synonym: "Cox Deficiencies" EXACT []
synonym: "Cox Deficiency" EXACT []
synonym: "cytochrome-c oxidase deficiencies" EXACT []
synonym: "cytochrome-c oxidase deficiency" EXACT []
synonym: "Cytochrome c Oxidase I Deficiency" EXACT []
synonym: "Cytochrome Oxidase Deficiencies" EXACT []
synonym: "Cytochrome Oxidase Deficiency" EXACT []
synonym: "early-onset hepatic failure and neurologic disorder due to cytochrome c oxidase deficiency" EXACT []
synonym: "lethal neonatal hypertrophic cardiomyopathy due to cytochrome c oxidase deficiency" EXACT []
synonym: "mitochondrial complex IV deficiency" EXACT []
synonym: "mitochondrial cytochrome c oxidase deficiency" EXACT []
synonym: "sensorineural deafness with neurologic features" NARROW []
xref: EFO:0009298
xref: GARD:48
xref: MESH:D030401
xref: MIM:PS220110
xref: NCI:C98910
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:3763
name: hermaphroditism
xref: NCI:C45909
is_a: DOID:1923 ! disorder of sexual development
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3764
name: Denys-Drash syndrome
def: "A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN "DO"]
synonym: "DDS" EXACT []
synonym: "Drash syndrome" EXACT []
synonym: "nephropathy, Wilms tumor, and genital anomalies" EXACT []
synonym: "pseudohermaphroditism, nephron disorder and Wilms' tumor" EXACT []
synonym: "Wilms tumor and pseudohermaphroditism" EXACT []
synonym: "Wilms tumor and pseudo- or true hermaphroditism" EXACT []
xref: GARD:5576
xref: MESH:D030321
xref: MIM:194080
xref: MONDO:0008682
xref: NCI:C84668
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2154 ! nephroblastoma
is_a: DOID:225 ! syndrome
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development

[Term]
id: DOID:3765
name: pseudohermaphroditism
synonym: "indeterminate sex and pseudohermaphroditism" EXACT []
xref: EFO:0005579
xref: ICD10CM:Q56
xref: ICD10CM:Q56.3
xref: ICD9CM:752.7
xref: NCI:C124575
is_a: DOID:1923 ! disorder of sexual development
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3766
name: leukorrhea
def: "A vaginal discharge that is characterized by a whitish or yellow color. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27773511 "DO"]
synonym: "discharge - leukorrhea" EXACT []
synonym: "leukorrhea of vagina" EXACT []
synonym: "Leukorrheas" EXACT []
xref: ICD10CM:N89.8
xref: MESH:D007973
xref: NCI:C34775
is_a: DOID:3767 ! vaginal discharge

[Term]
id: DOID:3767
name: vaginal discharge
def: "A vaginal disease that is characterized by the presence of discharge. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23889917 "DO"]
synonym: "vaginal discharges" EXACT []
xref: EFO:0009365
xref: MESH:D019522
xref: NCI:C50795
is_a: DOID:121 ! vaginal disease

[Term]
id: DOID:3770
name: pulmonary fibrosis
def: "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes. (DO)" [https://www.lung.org/lung-health-diseases/lung-disease-lookup/pulmonary-fibrosis "DO", https://www.sciencedirect.com/science/article/pii/S0954611106004331 "DO"]
synonym: "fibrosing alveolitides" EXACT []
synonym: "Fibrosing Alveolitis" EXACT []
synonym: "fibrosis of lung" EXACT []
synonym: "pulmonary fibroses" EXACT []
xref: EFO:0009448
xref: MESH:D011658
xref: NCI:C26869
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:9000784 ! Fibrosis

[Term]
id: DOID:3772
name: intraventricular meningioma
xref: NCI:C5273
is_a: DOID:3541 ! cerebral ventricle cancer
is_a: DOID:6112 ! cerebral meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:3774
name: chordoid glioma
alt_id: DOID:3773
def: "A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28315998/ "DO", https://www.frontiersin.org/articles/10.3389/fonc.2020.00502/full "DO"]
synonym: "chordoid glioma of 3rd ventricle" EXACT []
synonym: "chordoid glioma of third ventricle" EXACT []
synonym: "third ventricle chordoid glioma" EXACT []
xref: ICDO:9444/1
xref: NCI:C5592
xref: ORDO:251674
is_a: DOID:0060108 ! brain glioma
is_a: DOID:3541 ! cerebral ventricle cancer
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:3777
name: granuloma annulare
def: "Benign granulomatous disease of unknown etiology characterized by a ring of localized or disseminated papules or nodules on the skin and palisading histiocytes surrounding necrobiotic tissue resulting from altered collagen structures." [MESH:D016460]
synonym: "granulome annulare" EXACT []
xref: EFO:1000704
xref: GARD:6546
xref: ICD10CM:L92.0
xref: MESH:D016460
xref: NCI:C3470
is_a: DOID:2723 ! dermatitis
is_a: DOID:9002019 ! Granuloma
is_a: DOID:9005057 ! Necrobiotic Disorders

[Term]
id: DOID:3781
name: anovulation
def: "An ovarian disease that is characterized by the absence of ovulation. (DO)" [https://en.wikipedia.org/wiki/Anovulation "DO"]
synonym: "anovulations" EXACT []
xref: MESH:D000858
xref: NCI:C34388
is_a: DOID:1100 ! ovarian disease

[Term]
id: DOID:3783
name: Coffin-Lowry syndrome
alt_id: MIM:303600
def: "A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. (DO)" [https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance "DO"]
synonym: "CLS" EXACT []
synonym: "Coffin syndrome" EXACT []
synonym: "mental retardation with osteocartilaginous abnormalities" EXACT []
xref: GARD:6123
xref: MESH:D038921
xref: NCI:C84643
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:379
name: external ear disease
def: "An auditory system disease that is located_in the external ear. (DO)" [https://app1.unmc.edu/medicine/heywood/otology/unit3-external-ear-disease-diagnosis.cfm "DO"]
synonym: "preauricular cyst" EXACT []
synonym: "preauricular sinus and fistula" EXACT []
synonym: "preauricular sinus or fistula" EXACT []
xref: EFO:0009668
xref: ICD10CM:H61.9
xref: ICD9CM:380
xref: NCI:C26972
is_a: DOID:2742 ! auditory system disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:3798
name: pleural empyema
def: "A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. (DO)" [http://en.wikipedia.org/wiki/Pleural_empyema "DO", http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=Pleural%20empyema%20&alt=sh "DO"]
synonym: "abscess of pleural cavity" EXACT []
synonym: "abscess of thorax" EXACT []
synonym: "chest empyema" EXACT []
synonym: "empyema of pleura" EXACT []
synonym: "empyema of pleura without fistula" EXACT []
synonym: "empyema with fistula" EXACT []
synonym: "empyema with no fistula" EXACT []
synonym: "empyema without mention of fistula" EXACT []
synonym: "lung empyema" EXACT []
synonym: "pleural empyemas" EXACT []
synonym: "pleural empyema with fistula" EXACT []
synonym: "pleural empyema with no fistula" EXACT []
synonym: "purulent pleurisy" EXACT []
synonym: "purulent pleuritis" EXACT []
synonym: "Pyothorax" EXACT []
synonym: "Thoracic Empyema" EXACT []
synonym: "thoracic empyemas" EXACT []
synonym: "thorax abscess" EXACT []
xref: EFO:0009680
xref: ICD10CM:J86
xref: ICD10CM:J86.9
xref: MESH:D016724
xref: NCI:C45692
is_a: DOID:1532 ! pleural disease
is_a: DOID:9004425 ! Empyema
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:3803
name: Crigler-Najjar syndrome
alt_id: MIM:218800
def: "A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). (DO)" [https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome "DO"]
synonym: "bilirubin UDP glucuronyl transferase deficiency" EXACT []
synonym: "Crigler Najar Syndrome" EXACT []
synonym: "Crigler Najjar Syndrome, Type 1" EXACT []
synonym: "Crigler Najjar Syndrome, Type I" EXACT []
synonym: "Familial Nonhemolytic Unconjugated Hyperbilirubinemia" EXACT []
synonym: "HBLRCN1" EXACT []
synonym: "Hereditary Unconjugated Hyperbilirubinemia" EXACT []
synonym: "hyperbilirubinemia, Crigler-Najjar type I" EXACT []
xref: MESH:D003414
xref: NCI:C84656
xref: ORDO:205
is_a: DOID:225 ! syndrome
is_a: DOID:2741 ! bilirubin metabolic disorder
is_a: DOID:9005094 ! Hereditary Hyperbilirubinemia

[Term]
id: DOID:3805
name: porokeratosis
def: "A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis." [MESH:D017499]
synonym: "disseminated superficial actinic porokeratosis" EXACT []
synonym: "linear porokeratosis" EXACT []
synonym: "palmoplantar porokeratosis" EXACT []
synonym: "punctate porokeratosis" EXACT []
xref: EFO:1000757
xref: GARD:10983
xref: ICD10CM:L56.5
xref: ICD9CM:692.75
xref: MESH:D017499
xref: MIM:PS175800
xref: NCI:C85019
is_a: DOID:161 ! keratosis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:3809
name: epidural spinal canal meningioma
xref: NCI:C5310
is_a: DOID:1140 ! spinal canal and spinal cord meningioma
created_by: rgd
creation_date: 2016-03-11T12:37:40Z

[Term]
id: DOID:381
name: arthropathy
alt_id: DOID:9003266
def: "A bone disease that is located_in the joint. (DO)" [http://en.wikipedia.org/wiki/Arthropathy "DO"]
synonym: "ankylosis of ankle and foot joint" NARROW []
synonym: "ankylosis of forearm joint" NARROW []
synonym: "ankylosis of hand joint" NARROW []
synonym: "ankylosis of joint of ankle and/or foot" NARROW []
synonym: "ankylosis of joint of forearm" NARROW []
synonym: "ankylosis of joint of hand" NARROW []
synonym: "ankylosis of joint of lower leg" NARROW []
synonym: "ankylosis of joint of multiple sites" NARROW []
synonym: "ankylosis of joint of pelvic region and thigh" NARROW []
synonym: "ankylosis of joint of shoulder region" NARROW []
synonym: "ankylosis of joint of upper arm" NARROW []
synonym: "ankylosis of lower leg joint" NARROW []
synonym: "ankylosis of multiple joints" NARROW []
synonym: "ankylosis of upper arm joint" NARROW []
synonym: "arthropathies" EXACT []
synonym: "arthroses" EXACT []
synonym: "Arthrosis" EXACT []
synonym: "Infectious arthropathy" EXACT []
synonym: "joint ankylosis of the ankle and/or foot" NARROW []
synonym: "joint ankylosis of the ankle and foot" NARROW []
synonym: "joint ankylosis of the forearm" NARROW []
synonym: "joint ankylosis of the hand" NARROW []
synonym: "joint ankylosis of the lower leg" NARROW []
synonym: "joint ankylosis of the pelvic region and thigh" NARROW []
synonym: "joint ankylosis of the shoulder region" NARROW []
synonym: "joint ankylosis of the upper arm" NARROW []
synonym: "Joint Disease" EXACT []
synonym: "joint diseases" EXACT []
synonym: "vertebral joint disease" NARROW []
xref: EFO:0009477
xref: EFO:1000999
xref: ICD10CM:M00-M02
xref: ICD10CM:M12.9
xref: ICD9CM:711
xref: ICD9CM:719.90
xref: MESH:D007592
xref: NCI:C35760
xref: NCI:C78402
is_a: DOID:17 ! musculoskeletal system disease
is_a: DOID:3342 ! bone inflammation disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:3813
name: central nervous system chondroma
synonym: "chondroma of the CNS" EXACT []
xref: NCI:C7001
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:2602 ! chondroma
is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:3814
name: soft tissue chondroma
def: "A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification. (DO)" [https://radiopaedia.org/articles/soft-tissue-chondroma "DO"]
synonym: "extraskeletal chondroma" EXACT []
xref: EFO:1000540
xref: NCI:C9482
is_a: DOID:0060123 ! connective tissue benign neoplasm
is_a: DOID:2602 ! chondroma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:3816
name: glossopharyngeal nerve paralysis
xref: NCI:C27335
is_a: DOID:3418 ! glossopharyngeal nerve disease
is_a: DOID:3817 ! cranial nerve palsy
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:3817
name: cranial nerve palsy
def: "A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve. (DO)" [https://aapos.org/glossary/cranial-nerve-palsy "DO"]
synonym: "cranial nerve palsies" EXACT []
synonym: "cranial nerve paralysis" EXACT []
xref: EFO:0009489
xref: NCI:C26941
is_a: DOID:5656 ! cranial nerve disease
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:3818
name: photoallergic dermatitis
def: "An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema. (DO)" [https://en.wikipedia.org/wiki/Photodermatitis "DO", https://www.ncbi.nlm.nih.gov/pubmed/19834430 "DO"]
synonym: "photoallergic contact dermatitides" EXACT []
synonym: "photoallergic contact dermatitis" EXACT []
synonym: "photoallergic dermatitides" EXACT []
synonym: "photoallergic eczema" EXACT []
synonym: "photoallergies" EXACT []
synonym: "Photoallergy" EXACT []
synonym: "photocontact dermatitides" EXACT []
synonym: "photocontact dermatitis" EXACT []
synonym: "photosensitive contact dermatitides" EXACT []
synonym: "photosensitive contact dermatitis" EXACT []
xref: EFO:1000751
xref: EFO:1000753
xref: MESH:D017454
xref: MONDO:0006596
is_a: DOID:3042 ! allergic contact dermatitis
is_a: DOID:3159 ! photosensitivity disease

[Term]
id: DOID:3819
name: toxicodendron dermatitis
def: "An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type IV hypersensitivity reaction. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16805148 "DO"]
synonym: "contact dermatitis due to genus Toxicodendron" EXACT []
synonym: "poison ivy dermatitides" EXACT []
synonym: "Poison Ivy Dermatitis" EXACT []
synonym: "Rhus Dermatitides" EXACT []
synonym: "Rhus Dermatitis" EXACT []
synonym: "toxicodendron dermatitides" EXACT []
xref: EFO:1000773
xref: MESH:D011040
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:3821
name: posterior cerebral artery infarction
def: "NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)." [MESH:D020762]
synonym: "PCA Infarction" EXACT []
synonym: "Posterior Cerebral Artery Embolic Infarction" EXACT []
synonym: "Posterior Cerebral Artery Stroke" EXACT []
synonym: "Posterior Cerebral Artery Syndrome" EXACT []
synonym: "Posterior Cerebral Artery Thrombotic Infarction" EXACT []
synonym: "THROMBOTIC STROKE" BROAD []
xref: EFO:1001118
xref: MESH:D020762
xref: RDO:0007426
is_a: DOID:3526 ! cerebral infarction
is_a: DOID:3527 ! cerebral arterial disease

[Term]
id: DOID:3825
name: Shwartzman phenomenon
def: "Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (ENDOTOXINS) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous THROMBOSIS and NECROSIS. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of IMMUNE SYSTEM, coagulation, FIBRINOLYSIS, and blood flow." [MESH:D012790]
synonym: "Schwartzman Phenomenon" EXACT []
synonym: "Schwartzman Reaction" EXACT []
synonym: "Schwartzman reactions" EXACT []
synonym: "Shwartzman reaction" EXACT []
xref: GARD:7636
xref: MESH:D012790
is_a: DOID:484 ! vascular hemostatic disease
is_a: DOID:865 ! vasculitis

[Term]
id: DOID:3827
name: congenital diaphragmatic hernia
alt_id: MIM:142340
def: "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. (DO)" [http://en.wikipedia.org/wiki/Congenital_diaphragmatic_hernia "DO", http://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia "DO"]
synonym: "agenesis of hemidiaphragm" EXACT []
synonym: "Bochdalek hernias" EXACT []
synonym: "CDH" EXACT []
synonym: "complete agenesis of diaphragm" NARROW []
synonym: "congenital diaphragmatic defect" EXACT []
synonym: "congenital diaphragmatic defects" EXACT []
synonym: "congenital diaphragmatic hernias" EXACT []
synonym: "diaphragm unilateral ageneses" EXACT []
synonym: "diaphragm unilateral agenesis" EXACT []
synonym: "DIH" EXACT []
synonym: "DIH1" NARROW []
synonym: "HCD" EXACT []
synonym: "hemidiaphragm agenesis" EXACT []
synonym: "hemidiaphragm, agenesis of diaphragmatic hernia 1" NARROW []
synonym: "Morgagni's hernias" EXACT []
synonym: "Morgagni hernias" EXACT []
synonym: "Morgagnis hernias" EXACT []
synonym: "unilateral agenesis of diaphragm" EXACT []
xref: EFO:0007216
xref: GARD:1481
xref: ICD10CM:Q79.0
xref: MESH:D065630
xref: MIM:PS142340
xref: NCI:C34687
xref: NCI:C98893
xref: ORDO:2140
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9005835 ! Congenital Abnormalities
is_a: DOID:9009073 ! Diaphragmatic Hernia

[Term]
id: DOID:3828
name: chromophobe adenoma
def: "A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." [MESH:D000238]
synonym: "chromophobe adenoma of the pituitary gland" EXACT []
synonym: "Chromophobe Adenomas" EXACT []
xref: EFO:1000867
xref: ICDO:8270/0
xref: MESH:D000238
xref: NCI:C2857
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:3829 ! pituitary adenoma

[Term]
id: DOID:3829
name: pituitary adenoma
def: "A pituitary gland benign neoplasm that derives_from glandular epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24010395 "DO"]
synonym: "adenoma of the pituitary gland" EXACT []
synonym: "pituitary adenoma, multiple types" BROAD []
synonym: "pituitary adenomas" EXACT []
synonym: "Pituitary Gland Adenoma" EXACT []
xref: EFO:0002619
xref: EFO:1000478
xref: ICDO:8272/0
xref: MIM:PS102200
xref: NCI:C3329
xref: ORDO:99408
is_a: DOID:60009 ! pituitary gland benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:384
name: Wolff-Parkinson-White syndrome
alt_id: MIM:194200
def: "A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase." [MESH:D014927]
synonym: "accessory atrioventricular pathways" NARROW []
synonym: "anomalous atrioventricular excitation" EXACT []
synonym: "Anomalous A-V excitation" EXACT [SNOMEDCT_2005_07_31:266304003]
synonym: "Anomalous Ventricular Excitation Syndrome" EXACT []
synonym: "Auriculoventricular Accessory Pathway Syndrome" EXACT []
synonym: "False Bundle-Branch Block Syndrome" EXACT []
synonym: "FAMILIAL HYPERTROPHIC CARDIOMYOPATHY WITH WOLFF-PARKINSON-WHITE SYNDROME" NARROW []
synonym: "Ventricular Pre-Excitation with Arrhythmia" EXACT []
synonym: "WOLFF-PARKINSON-WHITE PATTERN" RELATED []
synonym: "Wolff-Parkinson-White syndrome, childhood-onset" NARROW []
synonym: "Wolf Parkinson White syndrome" RELATED []
synonym: "WPW syndrome" EXACT []
xref: EFO:1001450
xref: GARD:7897
xref: ICD9CM:426.7
xref: MESH:D014927
xref: NCI:C35132
is_a: DOID:10273 ! heart conduction disease
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9002491 ! Pre-Excitation Syndromes

[Term]
id: DOID:3840
name: craniopharyngioma
def: "A benign pituitary-region neoplasm that originates from Rathke's pouch. The two major histologic and clinical subtypes are adamantinous (or classical) craniopharyngioma and papillary craniopharyngioma. The adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. The cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations. (From Joynt, Clinical Neurology, 1998, Ch14, p50)" [MESH:D003397]
synonym: "Adamantinous Craniopharyngioma" NARROW []
synonym: "Adamantinous Craniopharyngiomas" NARROW []
synonym: "adult craniopharyngioma" EXACT []
synonym: "adult craniopharyngiomas" EXACT []
synonym: "Child Craniopharyngioma" EXACT []
synonym: "Child Craniopharyngiomas" EXACT []
synonym: "Craniopharyngiomas" EXACT []
synonym: "neoplasm of Rathke's pouch" EXACT []
synonym: "Papillary Craniopharyngioma" NARROW []
synonym: "Papillary Craniopharyngiomas" NARROW []
synonym: "Rathke's Cleft Neoplasm" EXACT []
synonym: "Rathke's pouch tumor" EXACT []
synonym: "Rathke Cleft Neoplasm" EXACT []
synonym: "Rathke Pouch Tumor" EXACT []
synonym: "Rathkes Cleft Neoplasm" EXACT []
synonym: "Rathkes pouch tumor" EXACT []
xref: EFO:1000209
xref: GARD:10486
xref: ICDO:9350/1
xref: MESH:D003397
xref: NCI:C2964
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:171 ! neuroectodermal tumor

[Term]
id: DOID:3842
name: skull base cancer
xref: NCI:C4676
is_a: DOID:1863 ! skull cancer
is_a: DOID:9008724 ! Skull Base Neoplasms

[Term]
id: DOID:3843
name: diencephalic neoplasm
synonym: "malignant diencephalic neoplasm" EXACT []
synonym: "malignant diencephalic tumor" EXACT []
synonym: "tumor of diencephalon" EXACT []
xref: NCI:C5125
xref: NCI:C5126
is_a: DOID:1659 ! supratentorial cancer
is_a: DOID:9006537 ! Supratentorial Neoplasms

[Term]
id: DOID:3846
name: adamantinous craniopharyngioma
synonym: "adamantinomatous craniopharyngioma" EXACT []
synonym: "adamantinous Rathke's pouch tumor" EXACT []
xref: EFO:1000069
xref: ICDO:9351/1
xref: NCI:C4726
is_a: DOID:3840 ! craniopharyngioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3847
name: papillary craniopharyngioma
synonym: "papillary Rathke's pouch tumor" EXACT []
xref: EFO:1000447
xref: ICDO:9352/1
xref: NCI:C4725
is_a: DOID:3840 ! craniopharyngioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3850
name: hemangiopericytic tumor
synonym: "hemangiopericytic neoplasm" EXACT []
xref: EFO:1000289
xref: NCI:C7076
is_a: DOID:3316 ! perivascular tumor
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:3852
name: Peutz-Jeghers syndrome
alt_id: MIM:175200
def: "An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10499464/ "DO", https://pubmed.ncbi.nlm.nih.gov/10874301/ "DO"]
synonym: "colonic hamartomatous polyp" NARROW []
synonym: "gastric Peutz-Jeghers polyp" NARROW []
synonym: "hamartomatous intestinal polyposes" NARROW []
synonym: "Hamartomatous Intestinal Polyposis" NARROW []
synonym: "Perioral Lentiginoses" NARROW []
synonym: "Perioral Lentiginosis" NARROW []
synonym: "periorificial lentiginosis syndrome" EXACT []
synonym: "periorificial lentiginosis syndromes" EXACT []
synonym: "Peutz Jegher's Syndrome" EXACT []
synonym: "Peutz Jeghers colon polyp" NARROW []
synonym: "Peutz Jeghers polyp" EXACT []
synonym: "Peutz-Jeghers polyp of small Intestine" NARROW []
synonym: "Peutz-Jeghers Polyp of the Stomach" NARROW []
synonym: "Peutz Jeghers Polyposis" EXACT []
synonym: "peutz-jeghers small bowel hamartoma" NARROW []
synonym: "Peutz-Jegher syndrome" EXACT []
synonym: "PJS" EXACT []
synonym: "polyps and spots syndrome" EXACT []
synonym: "polyps-and-spots syndromes" EXACT []
xref: EFO:1000470
xref: EFO:1000471
xref: GARD:7378
xref: ICD10CM:Q85.89
xref: MESH:D010580
xref: NCI:C3324
xref: NCI:C4733
xref: NCI:C7755
xref: ORDO:2869
is_a: DOID:5295 ! intestinal disease
is_a: DOID:6225 ! Cronkhite-Canada syndrome
is_a: DOID:9000319 ! Lentigo
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:3855
name: seminal vesicle tumor
synonym: "seminal vesicle neoplasm" EXACT []
synonym: "seminal vesicle tumour" EXACT []
synonym: "tumor of seminal vesicle" EXACT []
synonym: "tumour of seminal vesicle" EXACT []
xref: NCI:C39908
is_a: DOID:0060087 ! male reproductive organ benign neoplasm
is_a: DOID:9004207 ! Testicular Neoplasms
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:3856
name: male reproductive organ cancer
def: "A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. (DO)" [http://en.wikipedia.org/wiki/Template\:Male_genital_neoplasia "DO", http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm "DO"]
synonym: "male genital cancer" EXACT []
synonym: "malignant neoplasm of male genital organ" EXACT []
synonym: "malignant neoplasm of male genital organ or tract" EXACT []
synonym: "malignant neoplasm of male genital organs" EXACT []
synonym: "malignant tumor of male genital organ" EXACT []
synonym: "malignant tumor of male reproductive system" EXACT []
xref: EFO:0007355
xref: ICD10CM:C63.9
xref: ICD9CM:187.9
xref: MONDO:0005836
xref: NCI:C3054
xref: NCI:C8561
is_a: DOID:193 ! reproductive organ cancer
is_a: DOID:9003125 ! Male Genital Neoplasms

[Term]
id: DOID:3857
name: large cell medulloblastoma
def: "A medulloblastoma that is characterized by cells that are larger than would be normally expected. (DO)" [http://en.wikipedia.org/wiki/Large_cell "DO"]
synonym: "anaplastic medulloblastoma" EXACT []
xref: EFO:0008508
xref: ICDO:9474/3
xref: NCI:C6904
xref: ORDO:251855
is_a: DOID:0050902 ! medulloblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3860
name: cerebellar vermis medulloblastoma
synonym: "vermis medulloblastoma" EXACT []
xref: NCI:C5401
is_a: DOID:0050902 ! medulloblastoma
is_a: DOID:0060104 ! cerebellar medulloblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3861
name: medullomyoblastoma
synonym: "medullomyoblastomas" EXACT []
xref: EFO:1000368
xref: ICDO:9472/3
xref: NCI:C3706
is_a: DOID:0050902 ! medulloblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3864
name: adult medulloblastoma
synonym: "adult brain medulloblastoma" EXACT []
synonym: "adult medulloblastomas" EXACT []
xref: NCI:C4011
xref: NCI:C9373
is_a: DOID:0050902 ! medulloblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3865
name: adult central nervous system embryonal tumor
def: "A central nervous system embryonal tumor that occurs in adults. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33477185/ "DO"]
synonym: "adult central nervous system primitive neuroectodermal neoplasm" EXACT []
synonym: "adult CNS PNET" EXACT []
xref: NCI:C5411
is_a: DOID:0060103 ! central nervous system embryonal tumor

[Term]
id: DOID:3868
name: melanotic medulloblastoma
xref: NCI:C9497
is_a: DOID:0050902 ! medulloblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3869
name: childhood medulloblastoma
synonym: "childhood medulloblastomas" EXACT []
synonym: "pediatric medulloblastoma" EXACT []
xref: ICD-O:M9470/3
xref: NCI:C3997
is_a: DOID:0050902 ! medulloblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3870
name: childhood central nervous system embryonal tumor
def: "A central nervous system embryonal tumor that occurs in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315657/ "DO"]
synonym: "childhood central nervous system primitive neuroectodermal neoplasm" EXACT []
synonym: "pediatric CNS PNET" EXACT []
xref: ICD-O:M9473/3
xref: NCI:C5961
is_a: DOID:0060103 ! central nervous system embryonal tumor

[Term]
id: DOID:3873
name: desmoplastic/nodular medulloblastoma
def: "A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32304218/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910646/ "DO"]
synonym: "nodular medulloblastoma" EXACT []
xref: NCI:C4956
xref: NCI:C5407
is_a: DOID:0050902 ! medulloblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3875
name: thrombophlebitis
def: "A phlebitis that results from a blood clot in the vessel. (DO)" [http://en.wikipedia.org/wiki/Thrombophlebitis "DO", http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/thrombophlebitis.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001108.htm "DO"]
synonym: "phlebitis and thrombophlebitis of superficial vessels of lower extremities" EXACT []
synonym: "Phlegmasia Alba Dolens" EXACT []
synonym: "Superficial thrombophlebitis of leg" EXACT []
synonym: "Thrombophlebitides" EXACT []
synonym: "thrombophlebitis of a superficial leg vein" EXACT []
synonym: "thrombophlebitis of superficial veins of lower extremity" EXACT []
xref: EFO:0003887
xref: ICD10CM:I80.0
xref: ICD9CM:451.0
xref: MESH:D013924
xref: NCI:C3410
is_a: DOID:864 ! phlebitis
is_a: DOID:9003871 ! Venous Thrombosis

[Term]
id: DOID:3876
name: colonic pseudo-obstruction
def: "Functional obstruction of the COLON leading to MEGACOLON in the absence of obvious COLONIC DISEASES or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome." [MESH:D003112]
synonym: "Colonic Pseudoobstruction" EXACT []
synonym: "Ogilvie's Syndrome" EXACT []
synonym: "Ogilvie Disease" EXACT []
synonym: "Ogilvie Syndrome" EXACT []
synonym: "primary chronic pseudo-obstruction of colon" EXACT [SNOMEDCT_2005_07_31:35065006]
xref: EFO:1000871
xref: MESH:D003112
xref: RDO:0005241
is_a: DOID:0080072 ! intestinal pseudo-obstruction
is_a: DOID:3877 ! functional colonic disease

[Term]
id: DOID:3877
name: functional colonic disease
def: "Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized IRRITABLE BOWEL SYNDROME falls into this category." [MESH:D003109]
synonym: "functional colonic diseases" EXACT []
xref: MESH:D003109
xref: RDO:0005237
is_a: DOID:5353 ! colonic disease

[Term]
id: DOID:3883
name: Lynch syndrome
def: "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. (DO)" [http://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer "DO", http://ghr.nlm.nih.gov/condition/lynch-syndrome "DO"]
synonym: "APC-mutation negative familial colorectal cancer" EXACT []
synonym: "familial nonpolyposis colon cancer" EXACT []
synonym: "hereditary defective mismatch repair syndrome" EXACT []
synonym: "Hereditary non-polyposis colon cancer" EXACT []
synonym: "hereditary nonpolyposis colon cancer" EXACT []
synonym: "Hereditary non-polyposis colon cancer syndrome" EXACT []
synonym: "Hereditary nonpolyposis colon cancer syndrome" EXACT []
synonym: "Hereditary non-polyposis colorectal cancer" EXACT []
synonym: "hereditary nonpolyposis colorectal cancer" EXACT []
synonym: "Hereditary non-polyposis colorectal cancer syndrome" EXACT []
synonym: "hereditary nonpolyposis colorectal cancer syndrome" EXACT []
synonym: "hereditary nonpolyposis colorectal carcinoma" EXACT []
synonym: "hereditary nonpolyposis colorectal neoplasm" EXACT []
synonym: "hereditary nonpolyposis colorectal neoplasms" EXACT []
synonym: "HNPCC" EXACT []
synonym: "HNPCC - hereditary nonpolyposis colon cancer" EXACT []
synonym: "INHERITED MMR DEFICIENCY (LYNCH SYNDROME)" EXACT []
synonym: "non-polyposis colorectal cancer" EXACT []
xref: EFO:0007354
xref: EFO:0009911
xref: GARD:9905
xref: MESH:D003123
xref: MIM:PS120435
xref: MONDO:0005835
xref: NCI:C120083
xref: NCI:C8494
xref: ORDO:144
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes
is_a: DOID:9008443 ! Colorectal Neoplasms
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders

[Term]
id: DOID:3890
name: acute intermittent porphyria
alt_id: MIM:176000
def: "An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine." [MESH:D017118]
synonym: "ABNORMALITY OF THE HEME BIOSYNTHETIC PATHWAY" BROAD []
synonym: "acute intermittent porphyrias" EXACT []
synonym: "AIP" EXACT []
synonym: "AIP - acute intermittent porphyria" EXACT []
synonym: "HMBS-RELATED CONDITION" EXACT []
synonym: "hydroxymethylbilane synthase deficiencies" EXACT []
synonym: "Hydroxymethylbilane Synthase Deficiency" EXACT []
synonym: "PBGD deficiencies" EXACT []
synonym: "PBGD Deficiency" EXACT []
synonym: "PORC" RELATED []
synonym: "porphobilinogen deaminase deficiencies" EXACT []
synonym: "Porphobilinogen Deaminase Deficiency" EXACT []
synonym: "PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT" NARROW []
synonym: "PORPHYRIA, CHESTER TYPE" RELATED []
synonym: "pyrroloporphyria" EXACT []
synonym: "Swedish Type Porphyria" EXACT []
synonym: "Swedish type porphyrias" EXACT []
synonym: "UPS deficiencies" EXACT []
synonym: "UPS deficiency" EXACT []
synonym: "uroporphyrinogen synthase deficiencies" EXACT []
synonym: "uroporphyrinogen synthase deficiency" EXACT []
xref: GARD:5732
xref: MESH:D017118
xref: NCI:C84536
xref: ORDO:79276
is_a: DOID:3133 ! acute porphyria
is_a: DOID:9005584 ! Hepatic Porphyrias

[Term]
id: DOID:3891
name: placental insufficiency
def: "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy. (DO)" [http://en.wikipedia.org/wiki/Placental_insufficiency "DO"]
synonym: "placental dysfunction" EXACT []
synonym: "uteroplacental insufficiency" EXACT []
synonym: "uteroplacental vascular insufficiency" EXACT []
xref: EFO:0007443
xref: MESH:D010927
is_a: DOID:780 ! placenta disease

[Term]
id: DOID:3892
name: insulinoma
alt_id: MIM:606960
def: "A pancreatic cystadenoma that is characterized by the overproduction of insulin. (DO)" [https://en.wikipedia.org/wiki/Insulinoma "DO"]
synonym: "beta-Cell Adenoma" EXACT []
synonym: "beta-cell adenomas" EXACT []
synonym: "beta Cell Tumor" EXACT []
synonym: "beta-cell tumors" EXACT []
synonym: "Insulinomas" EXACT []
synonym: "insulinoma tumor suppressor gene locus" EXACT []
synonym: "insulin-producing tumor of islet cells" EXACT []
synonym: "insuloma" EXACT []
synonym: "insulomas" EXACT []
xref: EFO:0000549
xref: GARD:3010
xref: ICDO:8151/3
xref: MESH:D007340
xref: NCI:C121566
xref: NCI:C3140
xref: NCI:C34053
xref: NCI:C65184
xref: NCI:C95598
xref: ORDO:97279
is_a: DOID:3918 ! pancreatic cystadenoma
is_a: DOID:9000283 ! Islet Cell Adenoma

[Term]
id: DOID:3893
name: hidrocystoma
def: "A cystic form of sweat gland adenoma (ADENOMA, SWEAT GLAND). It is produced by the cystic proliferation of apocrine secretory glands. It is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. The commonest site is around the eye, particularly lateral to the outer canthus. It is cured by surgical removal. (Stedman, 25th ed; Rook et al., Textbook of Dermatology, 4th ed, p2410)" [MESH:D018251]
synonym: "Apocrine cystadenoma" EXACT []
synonym: "eccrine cystadenoma" EXACT []
synonym: "eccrine hidrocystoma of skin" EXACT []
synonym: "Hidrocystomas" EXACT []
xref: EFO:1000967
xref: ICDO:8404/0
xref: MESH:D018251
xref: NCI:C3760
is_a: DOID:5443 ! clear cell hidradenoma
is_a: DOID:5876 ! apocrine sweat gland neoplasm

[Term]
id: DOID:3895
name: apocrine adenoma
synonym: "tubular apocrine adenoma" EXACT []
xref: ICDO:8401/0
xref: NCI:C27527
xref: NCI:C4168
is_a: DOID:5876 ! apocrine sweat gland neoplasm
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:3896
name: hidradenoma
def: "A sweat gland benign neoplasm that is located_in an apical sweat gland. (DO)" [https://en.wikipedia.org/wiki/Hidradenoma "DO"]
synonym: "hidradenoma of skin" EXACT []
synonym: "hidradenomas" EXACT []
synonym: "sweat gland adenoma" EXACT []
synonym: "syringadenoma" EXACT []
synonym: "syringoadenoma" EXACT []
xref: ICDO:8402/0
xref: MESH:D006607
xref: MONDO:0002805
xref: NCI:C7560
xref: NCI:C7563
is_a: DOID:2664 ! sweat gland benign neoplasm
is_a: DOID:657 ! adenoma

[Term]
id: DOID:3901
name: vulvitis
def: "A vulvar disease that is characterized by inflammation of the vulva. (DO)" [https://en.wikipedia.org/wiki/Vulvitis "DO"]
synonym: "vulvitides" EXACT []
xref: EFO:1001239
xref: ICD10CM:N76.2
xref: MESH:D014847
is_a: DOID:2059 ! vulvar disease

[Term]
id: DOID:3904
name: bronchus carcinoma
def: "A bronchus cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "BC - bronchogenic carcinoma" EXACT []
synonym: "Bronchial Carcinoma" EXACT []
synonym: "bronchial carcinomas" EXACT []
synonym: "Bronchogenic Carcinoma" EXACT []
synonym: "bronchogenic carcinomas" EXACT []
xref: EFO:1001942
xref: MESH:D002283
xref: NCI:C35875
is_a: DOID:1325 ! bronchus cancer
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:3905
name: lung carcinoma
def: "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. (DO)" [https://merck.com/mmpe/sec05/ch062/ch062b.html "DO"]
synonym: "carcinoma of lung" EXACT []
xref: EFO:0001071
xref: EFO:1000331
xref: MONDO:0005138
xref: NCI:C4878
is_a: DOID:1324 ! lung cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:3906
name: bronchial benign neoplasm
xref: EFO:1000849
is_a: DOID:0050621 ! respiratory system benign neoplasm
is_a: DOID:9001241 ! Bronchial Neoplasms

[Term]
id: DOID:3907
name: lung squamous cell carcinoma
def: "A non-small cell lung carcinoma that has_material_basis_in the squamous cell. (DO)" [http://cancergenome.nih.gov/cancersselected/lungsquamouscell "DO", http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO", http://en.wikipedia.org/wiki/Squamous_cell_carcinoma_of_the_lung "DO", http://www.cancer.gov/dictionary?CdrID=46595 "DO"]
synonym: "Epidermoid carcinoma of lung" EXACT []
synonym: "Epidermoid cell carcinoma of the lung" EXACT [NCI2004_11_17:C3493]
synonym: "SCC - Squamous cell carcinoma of lung" EXACT []
synonym: "Squamous cell carcinoma of lung" EXACT []
synonym: "Squamous Cell Carcinoma of the Lung" EXACT []
xref: EFO:0000708
xref: NCI:C3493
xref: RDO:9001311
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:3908 ! lung non-small cell carcinoma
created_by: rgd
creation_date: 2017-01-30T00:00:00Z

[Term]
id: DOID:3908
name: lung non-small cell carcinoma
alt_id: DOID:9000424
def: "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma. (DO)" [http://en.wikipedia.org/wiki/Non-small-cell_lung_carcinoma "DO"]
synonym: "non-small cell lung cancer" EXACT []
synonym: "nonsmall cell lung cancer" EXACT []
synonym: "nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in" RELATED []
synonym: "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic" RELATED []
synonym: "NONSMALL CELL LUNG CANCER SUPPRESSOR" RELATED []
synonym: "non-small-cell lung carcinomas" EXACT []
synonym: "NSCLC" EXACT []
xref: EFO:0003060
xref: MESH:D002289
xref: MIM:603040
xref: NCI:C2926
xref: RDO:0008878
is_a: DOID:3904 ! bronchus carcinoma
is_a: DOID:3905 ! lung carcinoma

[Term]
id: DOID:3910
name: lung adenocarcinoma
def: "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://cancergenome.nih.gov/cancersselected/lungadenocarcinoma "DO", http://en.wikipedia.org/wiki/Adenocarcinoma "DO", http://en.wikipedia.org/wiki/Adenocarcinoma_of_the_lung "DO"]
synonym: "adenocarcinoma of lung" EXACT []
synonym: "adenocarcinoma of lung, somatic" RELATED []
synonym: "bronchogenic lung adenocarcinoma" EXACT []
synonym: "LUAD" EXACT []
synonym: "nonsmall cell adenocarcinoma" EXACT []
synonym: "non-small cell lung adenocarcinoma" EXACT []
synonym: "pulmonary adenocarcinoma" EXACT []
xref: EFO:0000571
xref: EFO:0005288
xref: GARD:5742
xref: MESH:D000077192
xref: NCI:C129299
xref: NCI:C27745
xref: NCI:C3512
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:3908 ! lung non-small cell carcinoma

[Term]
id: DOID:3911
name: progeria
alt_id: MIM:176670
def: "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. (DO)" [https://www.genome.gov/Genetic-Disorders/Progeria "DO", https://www.ncbi.nlm.nih.gov/pubmed/12714972 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16838330 "DO"]
synonym: "HGPS" EXACT []
synonym: "Hutchinson-Gilford disease" EXACT []
synonym: "Hutchinson Gilford Progeria Syndrome" EXACT []
synonym: "Hutchinson-Gilford Progeria Syndrome, Atypical" EXACT []
synonym: "Hutchinson-Gilford Progeria Syndromes" EXACT []
synonym: "Hutchinson Gilford Syndrome" EXACT []
xref: EFO:0000671
xref: GARD:7467
xref: ICD10CM:E34.8
xref: MESH:D011371
xref: MONDO:0020732
xref: NCI:C34951
xref: ORDO:740
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0081332 ! progeroid syndrome
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9002644 ! Premature Aging
is_a: DOID:9006138 ! Laminopathies

[Term]
id: DOID:3917
name: pancreatic serous cystadenoma
xref: NCI:C5712
xref: RDO:9004095
is_a: DOID:3918 ! pancreatic cystadenoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:3918
name: pancreatic cystadenoma
xref: NCI:C4374
xref: RDO:9004094
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:9008960 ! Pancreatic Adenoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:3919
name: pancreatic serous cystic neoplasm
xref: NCI:C41248
is_a: DOID:1795 ! malignant exocrine pancreas neoplasm
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:3923
name: diffuse lipomatosis
xref: EFO:1000687
xref: NCI:C6504
is_a: DOID:3153 ! lipomatosis
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3924
name: main bronchus cancer
synonym: "Ca main bronchus" EXACT [SNOMEDCT_2005_07_31:154487009]
synonym: "malignant neoplasm of main bronchus" EXACT [ICD9CM_2006:162.2]
xref: ICD10CM:C34.0
xref: ICD9CM:162.2
xref: RDO:9001994
is_a: DOID:1324 ! lung cancer
is_a: DOID:1325 ! bronchus cancer
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:3925
name: steroid lipomatosis
xref: EFO:1000769
xref: NCI:C27487
is_a: DOID:3153 ! lipomatosis
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3926
name: mediastinal lipomatosis
xref: EFO:1000732
xref: NCI:C27488
xref: RDO:9004118
is_a: DOID:3153 ! lipomatosis
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:3927
name: pelvic lipomatosis
def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males. (NCI)" []
xref: EFO:1000748
xref: GARD:7350
xref: MESH:C535549
xref: MONDO:0006593
xref: NCI:C27486
is_a: DOID:3153 ! lipomatosis
is_a: DOID:365 ! bladder disease

[Term]
id: DOID:3928
name: adiposis dolorosa
alt_id: MIM:103200
def: "A rare disease characterized by multiple tumor-like fatty deposits that press on nerves in various sites causing pain and weakness. Often these lipoma-like structures are located on the trunk and limbs but not on the face and hands." [MESH:D000274]
synonym: "adiposalgia" EXACT []
synonym: "adiposalgias" EXACT []
synonym: "Adipose Tissue Rheumatism" EXACT []
synonym: "Ander's Syndrome" EXACT []
synonym: "Anders Syndrome" EXACT []
synonym: "Anders syndromes" EXACT []
synonym: "Ander Syndrome" EXACT []
synonym: "Decum Vitaut Syndrome" EXACT []
synonym: "Dercum's Disease" EXACT []
synonym: "Dercum Disease" EXACT []
synonym: "Dercums disease" EXACT []
synonym: "Dercum-Vitaut syndrome" EXACT []
synonym: "lipomatosis dolorosa" EXACT []
synonym: "morbus dercum" EXACT []
xref: EFO:1000667
xref: GARD:5750
xref: ICD10CM:E88.2
xref: MESH:D000274
xref: MONDO:0007070
xref: NCI:C84540
is_a: DOID:3153 ! lipomatosis

[Term]
id: DOID:3930
name: otitis interna
def: "An inner ear disease which involves inflammation of the inner ear. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otitis%20interna "DO"]
synonym: "inner ear infection" EXACT []
xref: EFO:0009604
xref: NCI:C27339
is_a: DOID:2952 ! inner ear disease

[Term]
id: DOID:3933
name: anterior compartment syndrome
def: "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION." [MESH:D000868]
synonym: "anterior compartment syndromes" EXACT []
synonym: "Anterior Tibial Syndrome" EXACT []
synonym: "anterior tibial syndromes" EXACT []
xref: EFO:1000808
xref: ICD10CM:M76.81
xref: MESH:D000868
is_a: DOID:682 ! compartment syndrome

[Term]
id: DOID:3944
name: Arenaviridae infectious disease
def: "A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. (DO)" [http://en.wikipedia.org/wiki/Arenaviridae "DO"]
synonym: "Arenaviridae Infection" EXACT []
synonym: "arenaviridae infections" EXACT []
synonym: "Arenavirus Infection" EXACT []
synonym: "arenavirus infections" EXACT []
xref: EFO:0007150
xref: MESH:D001117
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:3946
name: pituitary-dependent Cushing's disease
alt_id: RDO:0000271
def: "A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." [MESH:D047748]
synonym: "Cushing disease" EXACT []
synonym: "inappropriate ACTH secretion syndrome" EXACT []
synonym: "Inappropriate Adrenocorticotropic Hormone Secretion" EXACT []
synonym: "overproduction of ACTH" EXACT []
synonym: "Pituitary ACTH Hypersecretion" EXACT []
synonym: "Pituitary Cushing Disease" EXACT []
synonym: "Pituitary Cushing Diseases" EXACT []
synonym: "Pituitary Cushing Syndrome" EXACT []
synonym: "pituitary-dependent Cushing disease" EXACT []
synonym: "Pituitary Dependent Hypercortisolism" EXACT []
synonym: "pituitary dependent hypercortisolism disorder" EXACT []
synonym: "pituitary-dependent hypercortisolism disorders" EXACT []
xref: EFO:1001110
xref: ICD10CM:E24.0
xref: MESH:D047748
xref: NCI:C113210
is_a: DOID:2444 ! hyperpituitarism

[Term]
id: DOID:3947
name: adrenal gland hyperfunction
def: "Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM." [MESH:D000308]
synonym: "adrenocortical hyperfunction" EXACT []
synonym: "Hyperadrenalism" EXACT []
synonym: "Hyperadrenocorticism" EXACT []
synonym: "hypercorticism" EXACT []
synonym: "hypercortisolism" EXACT []
xref: EFO:1000797
xref: MESH:D000308
xref: NCI:C113208
is_a: DOID:3952 ! adrenal cortex disease

[Term]
id: DOID:3948
name: adrenocortical carcinoma
def: "An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://cancergenome.nih.gov/cancersselected/AdrenocorticalCarcinoma "DO", http://www.cancer.gov/cancertopics/types/adrenocortical "DO"]
synonym: "adrenal cortex carcinoma" EXACT []
synonym: "adrenal cortical carcinoma" EXACT []
synonym: "adrenal cortical carcinomas" EXACT []
synonym: "adrenocortical carcinomas" EXACT []
synonym: "carcinoma of the adrenal cortex" EXACT []
xref: EFO:0003093
xref: EFO:1000796
xref: GARD:558
xref: MESH:D018268
xref: NCI:C22992
xref: NCI:C9325
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:660 ! adrenal cortex cancer

[Term]
id: DOID:3950
name: adrenal carcinoma
def: "An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Adrenocortical_carcinoma "DO"]
synonym: "carcinoma of the adrenal gland" EXACT []
is_a: DOID:305 ! carcinoma
is_a: DOID:3953 ! adrenal gland cancer
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:3951
name: acute myocarditis
xref: ICD10CM:I40
xref: ICD9CM:422
xref: NCI:C35206
is_a: DOID:820 ! myocarditis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3952
name: adrenal cortex disease
def: "An adrenal gland disease that is located_in the adrenal cortex. (DO)" [https://accessmedicine.mhmedical.com/content.aspx?bookid=961&sectionid=53555702 "DO", MESH:D000303]
synonym: "adrenal cortex diseases" EXACT []
xref: MESH:D000303
is_a: DOID:9553 ! adrenal gland disease

[Term]
id: DOID:3953
name: adrenal gland cancer
def: "An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. (DO)" [http://en.wikipedia.org/wiki/Adrenal_gland "DO"]
synonym: "adrenal cancer" EXACT []
synonym: "adrenal cancers" EXACT []
synonym: "adrenal gland cancers" EXACT []
synonym: "cancer of the adrenal gland" EXACT []
synonym: "malignant adrenal tumor" EXACT [NCI2004_11_17:C9338]
synonym: "malignant neoplasm of adrenal gland" EXACT []
xref: EFO:0003850
xref: GARD:5751
xref: ICD10CM:C74
xref: ICD9CM:194.0
xref: NCI:C2859
xref: NCI:C9338
is_a: DOID:170 ! endocrine gland cancer
is_a: DOID:9000362 ! Adrenal Gland Neoplasms
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:3959
name: adrenal cortical adenocarcinoma
def: "An adrenocortical carcinoma that originates in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adrenocortical_carcinoma "DO"]
synonym: "adrenal cortex adenocarcinoma" EXACT []
xref: EFO:1000796
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:3948 ! adrenocortical carcinoma
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:396
name: Loeffler endocarditis
def: "A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. (DO)" [http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_endocarditis "DO"]
synonym: "eosinophilic endomyocardial disease" EXACT []
xref: ICD10CM:I42.3
xref: NCI:C27044
is_a: DOID:397 ! restrictive cardiomyopathy
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:3962
name: follicular thyroid carcinoma
def: "A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells. (DO)" [http://en.wikipedia.org/wiki/Follicular_thyroid_cancer "DO"]
synonym: "follicular adenocarcinoma" EXACT []
synonym: "follicular adenocarcinomas" EXACT []
synonym: "follicular adenocarcinoma, well differentiated" EXACT []
synonym: "follicular carcinoma" EXACT []
synonym: "follicular carcinoma of the thyroid gland" EXACT []
synonym: "follicular thyroid carcinomas" EXACT []
synonym: "poorly differentiated follicular thyroid carcinoma" NARROW []
synonym: "thyroid adenocarcinoma" EXACT []
synonym: "thyroid gland follicular carcinoma" EXACT []
xref: EFO:0000501
xref: EFO:1002016
xref: ICD11:2D10.0
xref: ICDO:8330/3
xref: MESH:D018263
xref: MONDO:0005034
xref: NCI:C132275
xref: NCI:C8054
is_a: DOID:0080525 ! differentiated high-grade thyroid carcinoma

[Term]
id: DOID:3963
name: thyroid gland carcinoma
def: "A thyroid gland cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "thyroid carcinoma" EXACT []
synonym: "thyroid carcinomas" EXACT []
synonym: "Thyroid Gland Squamous Cell Carcinoma" NARROW []
synonym: "thyroid head and neck cancer" EXACT []
xref: EFO:0002892
xref: EFO:1000586
xref: EFO:1000589
xref: EFO:1000594
xref: NCI:C4815
is_a: DOID:1781 ! thyroid cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:3964
name: trabecular follicular adenocarcinoma
synonym: "trabecular follicular carcinoma" EXACT []
xref: NCI:C46095
is_a: DOID:3962 ! follicular thyroid carcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:3965
name: Merkel cell carcinoma
def: "A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)" [MESH:D015266]
synonym: "Merkel Cell Cancer" EXACT []
synonym: "Merkel Cell Tumor" EXACT []
synonym: "Merkle Tumors" EXACT []
synonym: "trabecular adenocarcinoma" EXACT []
synonym: "trabecular carcinoma" EXACT []
xref: EFO:1001471
xref: GARD:9266
xref: ICDO:8247/3
xref: MESH:D015266
xref: NCI:C4068
xref: NCI:C9231
is_a: DOID:1800 ! neuroendocrine carcinoma
is_a: DOID:3451 ! skin carcinoma
is_a: DOID:9000386 ! Polyomavirus Infections
is_a: DOID:9004886 ! Tumor Virus Infections

[Term]
id: DOID:3969
name: papillary thyroid carcinoma
def: "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland. (DO)" [http://cancergenome.nih.gov/cancersselected/thyroid "DO", http://en.wikipedia.org/wiki/Papillary_thyroid_cancer "DO", https://www.ncbi.nlm.nih.gov/pubmed/21455196 "DO"]
synonym: "familial nonmedullary thyroid cancer" EXACT []
synonym: "nonmedullary thyroid carcinoma" EXACT []
synonym: "NONMEDULLARY THYROID CARCINOMA, PAPILLARY" EXACT []
synonym: "PACT" EXACT []
synonym: "papillary carcinoma of the thyroid gland" EXACT []
synonym: "papillary carcinoma of thyroid" EXACT []
synonym: "papillary familial nonmedullary thyroid cancer" EXACT []
synonym: "papillary thyroid cancer" EXACT []
synonym: "PTC" EXACT []
synonym: "thyroid gland papillary carcinoma" EXACT []
synonym: "TPC" EXACT []
xref: EFO:0000641
xref: GARD:12027
xref: ICD11:2D10.1
xref: MESH:D000077273
xref: MIM:PS188550
xref: MONDO:0005075
xref: NCI:C4035
is_a: DOID:0080525 ! differentiated high-grade thyroid carcinoma
is_a: DOID:3112 ! papillary adenocarcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:397
name: restrictive cardiomyopathy
def: "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8995091 "DO"]
synonym: "constrictive cardiomyopathy" EXACT []
synonym: "familial restrictive cardiomyopathy" NARROW []
synonym: "Non-familial restrictive cardiomyopathy" NARROW []
synonym: "primary restrictive cardiomyopathy" EXACT []
synonym: "RCM" EXACT []
synonym: "restrictive cardiomyopathies" EXACT []
xref: EFO:0002630
xref: EFO:1001473
xref: ICD10CM:I42.5
xref: MESH:D002313
xref: MIM:PS115210
xref: NCI:C62798
xref: ORDO:217632
xref: ORDO:75249
is_a: DOID:0060036 ! intrinsic cardiomyopathy

[Term]
id: DOID:3973
name: medullary thyroid carcinoma
def: "A thyroid gland carcinoma that has_material_basis_in parafollicular cells. (DO)" [http://en.wikipedia.org/wiki/Medullary_thyroid_cancer "DO", https://www.ncbi.nlm.nih.gov/books/NBK459354/ "DO"]
synonym: "medullary carcinoma of the thyroid gland" EXACT []
synonym: "medullary thyroid cancer (MTC)" EXACT []
synonym: "Parafollicular cell carcinoma" EXACT []
synonym: "thyroid gland medullary carcinoma" EXACT []
synonym: "thyroid medullary cancer" EXACT []
synonym: "thyroid medullary carcinoma" EXACT []
synonym: "ultimobranchial thyroid tumor" EXACT []
synonym: "ultimobranchial thyroid tumour" EXACT []
xref: ICDO:8345/3
xref: MESH:C536914
xref: MONDO:0015277
xref: NCI:C161006
xref: NCI:C24170
xref: NCI:C3879
is_a: DOID:3963 ! thyroid gland carcinoma
is_a: DOID:9006195 ! Medullary Carcinomas

[Term]
id: DOID:3978
name: extrinsic cardiomyopathy
def: "A cardiomyopathy that is characterized by the pathology occurring outside of the myocardium. (DO)" [http://en.wikipedia.org/wiki/Cardiomyopathy "DO"]
xref: ICD9CM:425.8
is_a: DOID:0050700 ! cardiomyopathy
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:3981
name: pantothenate kinase-associated neurodegeneration
alt_id: DOID:9004936
alt_id: MIM:234200
def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. (DO)" [http://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration "DO"]
synonym: "brain iron accumulation type I syndrome" EXACT []
synonym: "Hallervorden Spatz disease" EXACT []
synonym: "Hallervorden Spatz syndrome" EXACT []
synonym: "Harp Syndrome" EXACT []
synonym: "Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration" EXACT []
synonym: "juvenile-onset neuroaxonal dystrophies" EXACT []
synonym: "juvenile-onset neuroaxonal dystrophy" EXACT []
synonym: "NBIA1" EXACT []
synonym: "Neurodegeneration With Brain Iron Accumulation 1" EXACT []
synonym: "neurodegeneration with brain iron accumulation type 1" EXACT []
synonym: "pigmentary pallidal atrophy" EXACT []
synonym: "pigmentary pallidal degeneration" EXACT []
synonym: "PKAN" EXACT []
synonym: "PKAN neuroaxonal dystrophy, juvenile onset" EXACT []
xref: GARD:6564
xref: MESH:C564603
xref: MESH:D006211
xref: NCI:C84988
xref: NCI:C8967
xref: ORDO:157850
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation
is_a: DOID:480 ! movement disease
is_a: DOID:679 ! basal ganglia disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:3982
name: Meige syndrome
def: "A cranio-facial dystonia that is accompanied by blepharospasm. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"]
synonym: "Blepharospasm Oromandibular Dyskinesia" EXACT []
synonym: "blepharospasm-oromandibular dyskinesias" EXACT []
synonym: "Blepharospasm Oromandibular Dystonia" EXACT []
synonym: "Blepharospasm-Oromandibular Dystonias" EXACT []
synonym: "Blepharospasm Oromandibular Dystonia Syndrome" EXACT []
synonym: "Blepharospasm-Oromandibular Dystonia Syndromes" EXACT []
synonym: "Brueghel Syndrome" EXACT []
synonym: "Idiopathic Blepharospasm Oromandibular Dystonia Syndrome" EXACT []
synonym: "Idiopathic Orofacial Dyskinesia" EXACT []
synonym: "idiopathic orofacial dyskinesias" EXACT []
xref: GARD:7008
xref: MESH:D008538
is_a: DOID:0050845 ! cranio-facial dystonia
is_a: DOID:225 ! syndrome
is_a: DOID:679 ! basal ganglia disease

[Term]
id: DOID:3983
name: oesophagostomiasis
def: "A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Oesophagostomiasis.htm "DO"]
synonym: "infection by Oesophagostomum" EXACT []
synonym: "oesophagostomiases" EXACT []
xref: EFO:0007400
xref: MESH:D009814
is_a: DOID:9003369 ! Strongylida Infections

[Term]
id: DOID:3985
name: ostertagiasis
def: "A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia. (DO)" [http://jvdi.org/cgi/reprint/1/2/195.pdf "DO"]
synonym: "ostertagiases" EXACT []
xref: EFO:0007414
xref: MESH:D010029
is_a: DOID:1255 ! trichostrongyloidiasis

[Term]
id: DOID:399
name: tuberculosis
alt_id: MESH:C536092
alt_id: MIM:300259
alt_id: MIM:607948
alt_id: MIM:607949
alt_id: MIM:611046
alt_id: MIM:612929
def: "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. (DO)" [https://www.merckmanuals.com/home/infections/tuberculosis-and-related-infections/tuberculosis-tb "DO"]
synonym: "Bcg infection, tuberculoid, antibiotic-responsive" EXACT []
synonym: "Koch's disease" EXACT []
synonym: "Koch disease" EXACT []
synonym: "Kochs Disease" EXACT []
synonym: "MTBS1" RELATED []
synonym: "MTBS2" RELATED []
synonym: "MTBS3" RELATED []
synonym: "MTBSX" RELATED []
synonym: "mycobacterium tuberculosis, protection against" RELATED []
synonym: "Mycobacterium Tuberculosis, Susceptibility To" EXACT []
synonym: "Mycobacterium Tuberculosis, Susceptibility To, 1" RELATED []
synonym: "Mycobacterium Tuberculosis, Susceptibility To, 2" RELATED []
synonym: "Mycobacterium Tuberculosis, Susceptibility To, 3" RELATED []
synonym: "Mycobacterium Tuberculosis, Susceptibility To Infection By" RELATED []
synonym: "mycobacterium tuberculosis, susceptibility to, X-linked" RELATED []
synonym: "tuberculoses" EXACT []
synonym: "tuberculosis, susceptibility to" RELATED []
xref: EFO:0000774
xref: GARD:7827
xref: MESH:D014376
xref: MONDO:0018076
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9001415 ! Mycobacterium Infections
is_a: DOID:9002174 ! Disease Susceptibility

[Term]
id: DOID:3996
name: urinary system cancer
def: "An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. (DO)" [http://en.wikipedia.org/wiki/Urinary_system "DO"]
synonym: "cancer of the urinary tract" EXACT []
synonym: "Cancer of Urinary Tract" EXACT []
synonym: "Urinary Tract Cancer" EXACT []
synonym: "urinary tract cancers" EXACT []
synonym: "Urological Cancer" EXACT []
synonym: "urological cancers" EXACT []
synonym: "urologic cancer" EXACT []
synonym: "urologic cancers" EXACT []
synonym: "urothelial cancer" EXACT []
xref: EFO:1000363
xref: ICD10CM:C68.9
xref: ICD9CM:189.9
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:18 ! urinary system disease
is_a: DOID:9004643 ! Urologic Neoplasms
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:3998
name: Bartholin's gland transitional cell carcinoma
def: "A Bartholin's gland carcinoma that derives_from transitional epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4081365/ "DO"]
synonym: "Bartholin gland transitional cell carcinoma" EXACT []
xref: NCI:C40297
is_a: DOID:2671 ! transitional cell carcinoma
is_a: DOID:3999 ! Bartholin's gland carcinoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:3999
name: Bartholin's gland carcinoma
def: "A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. (DO)" [http://en.wikipedia.org/wiki/Bartholin%27s_gland "DO", http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "Bartholin gland carcinoma" EXACT []
synonym: "carcinoma of Bartholin's gland" EXACT []
xref: EFO:1000103
xref: NCI:C9055
is_a: DOID:1294 ! vulva carcinoma
is_a: DOID:60003 ! Bartholin's gland cancer

[Term]
id: DOID:4
name: disease
alt_id: DOID:9007258
def: "A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3041577/ "DO"]
synonym: "diseases" EXACT []
xref: EFO:0000408
xref: EFO:0000411
xref: MESH:C
xref: MESH:D004194
xref: NCI:C2991

[Term]
id: DOID:4000
name: ovary transitional cell carcinoma
alt_id: DOID:4002
def: "An ovarian epithelial cancer that derives_from epithelial transitional cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362466/ "DO"]
synonym: "malignant ovarian transitional cell neoplasm" EXACT []
synonym: "ovarian transitional cell cancer" EXACT []
synonym: "ovarian transitional cell neoplasm" EXACT []
synonym: "transitional cell carcinoma of ovary" EXACT []
xref: EFO:1000435
xref: NCI:C40089
xref: NCI:C5240
xref: NCI:C7280
is_a: DOID:2152 ! ovary epithelial cancer
is_a: DOID:2671 ! transitional cell carcinoma

[Term]
id: DOID:4001
name: ovarian carcinoma
def: "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary. (DO)" [https://www.cancer.gov/types/ovarian "DO"]
synonym: "epithelial ovarian carcinoma" RELATED []
synonym: "undifferentiated ovarian carcinoma" NARROW []
xref: EFO:0001075
xref: EFO:1000605
xref: MESH:D000077216
xref: NCI:C4908
is_a: DOID:2151 ! malignant ovarian surface epithelial-stromal neoplasm
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:4003
name: Schneiderian carcinoma
def: "Rare variant of sinonasal squamous cell carcinoma in sinonasal tract; usually develops de novo, rarely arises from preexisting inverted papilloma." [url:http\://www.pathologyoutlines.com/topic/nasalcylindrical.html "RGD"]
synonym: "cylindrical cell carcinoma" EXACT []
synonym: "Ringertz carcinoma" EXACT []
xref: ICDO:8121/3
xref: NCI:C54287
is_a: DOID:1357 ! maxillary sinus cancer
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:4005
name: endometrial transitional cell carcinoma
def: "An endometrial carcinoma that derives_from transitional epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Transitional_cell_carcinoma "DO"]
xref: NCI:C40154
is_a: DOID:2671 ! transitional cell carcinoma
is_a: DOID:2871 ! endometrial carcinoma
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:4006
name: bladder urothelial carcinoma
def: "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder. (DO)" [http://cancergenome.nih.gov/cancersselected/UrothelialBladderCarcinoma "DO", http://www.cancer.gov/dictionary?cdrid=46629 "DO"]
synonym: "bladder transitional cell carcinoma" RELATED []
synonym: "transitional cell carcinoma of bladder" RELATED []
synonym: "urinary bladder urothelial carcinoma" RELATED []
xref: EFO:0006544
xref: NCI:C39851
is_a: DOID:2671 ! transitional cell carcinoma
is_a: DOID:4007 ! bladder carcinoma
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:4007
name: bladder carcinoma
def: "A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [https://www.mayoclinic.org/diseases-conditions/bladder-cancer/symptoms-causes/syc-20356104 "DO"]
synonym: "carcinoma of bladder" EXACT []
synonym: "carcinoma of urinary bladder" EXACT []
synonym: "URINARY BLADDER CARCINOMA" EXACT []
xref: EFO:0000292
xref: MONDO:0004986
xref: NCI:C4912
xref: RDO:9001955
is_a: DOID:11054 ! urinary bladder cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:4008
name: fallopian tube transitional cell carcinoma
def: "A fallopian tube carcinoma that derives_from epithelial transitional cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26894303/ "DO"]
xref: NCI:C40104
is_a: DOID:1963 ! fallopian tube carcinoma
is_a: DOID:2671 ! transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:401
name: multidrug-resistant tuberculosis
def: "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs. (DO)" [http://en.wikipedia.org/wiki/Multidrug-resistant_tuberculosis "DO"]
synonym: "drug-resistant tuberculosis" EXACT []
synonym: "MDR tuberculosis" EXACT []
synonym: "multi-drug resistant tuberculosis" EXACT []
xref: EFO:0007381
xref: MESH:D018088
xref: NCI:C128415
is_a: DOID:399 ! tuberculosis

[Term]
id: DOID:4011
name: prostate transitional cell carcinoma
def: "A prostate carcinoma that derives_from transitional epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6506393 "DO"]
synonym: "transitional cell carcinoma of prostate" EXACT []
is_a: DOID:10286 ! prostate carcinoma
is_a: DOID:2671 ! transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:4012
name: papillary transitional carcinoma
def: "A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. (DO)" [https://www.healthline.com/health/papillary-urothelial-carcinoma "DO"]
synonym: "papillary transitional cell carcinoma" EXACT []
xref: EFO:1000450
xref: NCI:C4122
is_a: DOID:2671 ! transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:4013
name: urethra transitional cell carcinoma
def: "An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31950597/ "DO", https://pubmed.ncbi.nlm.nih.gov/9730148/ "DO"]
synonym: "urethral transitional cell carcinoma" EXACT []
xref: NCI:C6166
is_a: DOID:2671 ! transitional cell carcinoma
is_a: DOID:734 ! urethra cancer
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:4014
name: sarcomatoid transitional cell carcinoma
def: "A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium. (DO)" [http://www.sciencedirect.com/science/article/pii/S0090429505013439 "DO", https://pubmed.ncbi.nlm.nih.gov/16504263/ "DO"]
synonym: "transitional spindle cell carcinoma" RELATED []
xref: NCI:C4120
is_a: DOID:2671 ! transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:4015
name: sarcomatoid carcinoma
def: "A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27004 "DO"]
synonym: "spindle cell carcinoma" EXACT []
synonym: "spindle cell carcinomas" EXACT []
xref: EFO:1000520
xref: NCI:C27004
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:402
name: oral tuberculosis
def: "A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16900894 "DO"]
synonym: "oral tuberculoses" EXACT []
xref: EFO:0007407
xref: MESH:D014393
is_a: DOID:403 ! mouth disease
is_a: DOID:404 ! gastrointestinal tuberculosis

[Term]
id: DOID:4022
name: ureterocele
alt_id: MIM:191650
def: "A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23969704 "DO"]
synonym: "ureteroceles" EXACT []
xref: EFO:1001227
xref: MESH:D014518
xref: NCI:C123159
is_a: DOID:1426 ! ureteral disease

[Term]
id: DOID:4023
name: linitis plastica
def: "A condition where the stomach wall becomes thickened, rubbery and loses its ability to distend. The stomach assumes a 'leather bottle' shape. It is most often seen in adenocarcinoma of the stomach. The term is often used synonymously with diffuse adenocarcinoma of the stomach." [MESH:D008039]
synonym: "leather-bottle stomach" EXACT []
xref: ICDO:8142/3
xref: MESH:D008039
xref: NCI:C3190
is_a: DOID:4024 ! scirrhous adenocarcinoma
is_a: DOID:6217 ! gastric diffuse adenocarcinoma

[Term]
id: DOID:4024
name: scirrhous adenocarcinoma
def: "An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34084475/ "DO"]
synonym: "adenocarcinoma with productive fibrosis" EXACT []
synonym: "Scirrhous Adenocarcinomas" EXACT []
synonym: "Scirrhous Carcinoma" EXACT []
synonym: "Scirrhous Carcinomas" EXACT []
xref: EFO:0007478
xref: ICDO:8141/3
xref: MESH:D002293
xref: NCI:C2928
is_a: DOID:299 ! adenocarcinoma

[Term]
id: DOID:4028
name: angioma serpiginosum
alt_id: MIM:300652
def: "A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin. (DO)" [http://www.dermnetnz.org/vascular/angioma-serpiginosa.html "DO"]
synonym: "angioma serpiginosum of skin" EXACT []
synonym: "Angioma Serpiginosum, X-Linked" EXACT []
xref: ICD10CM:L81.7
xref: MESH:C536366
xref: NCI:C3926
xref: ORDO:95429
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:471 ! skin hemangioma
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:4029
name: gastritis
def: "A stomach disease that is an inflammation of the lining of the stomach. (DO)" [http://en.wikipedia.org/wiki/Gastritis "DO"]
synonym: "acute gastric mucosal erosion" NARROW []
synonym: "chronic gastritis" NARROW []
synonym: "erosive gastritis" NARROW []
synonym: "erosive gastropathy" NARROW []
synonym: "Gastritides" EXACT []
xref: EFO:0000217
xref: EFO:0000337
xref: ICD10CM:K29.7
xref: MESH:D005756
xref: NCI:C26780
is_a: DOID:2326 ! gastroenteritis
is_a: DOID:76 ! stomach disease

[Term]
id: DOID:403
name: mouth disease
def: "A gastrointestinal system disease that is located_in the mouth. (DO)" [http://en.wikipedia.org/wiki/Oral_and_maxillofacial_pathology "DO"]
synonym: "mouth diseases" EXACT []
xref: EFO:1001047
xref: MESH:D009059
xref: NCI:C27641
xref: NCI:C3240
is_a: DOID:0050155 ! sensory system disease
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9001349 ! Stomatognathic Diseases

[Term]
id: DOID:4030
name: eosinophilic gastritis
xref: ICD9CM:535.7
xref: NCI:C27052
is_a: DOID:4029 ! gastritis
is_a: DOID:9001371 ! Eosinophilia
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:4031
name: eosinophilic gastroenteritis
synonym: "Eosinophilic enteritis" EXACT []
synonym: "Eosinophilic Enteropathy" EXACT []
synonym: "Eosinophilic gastroenteropathy" EXACT []
xref: ICD9CM:558.41
xref: MESH:C535952
xref: NCI:C35330
is_a: DOID:2326 ! gastroenteritis
is_a: DOID:4029 ! gastritis
is_a: DOID:9001371 ! Eosinophilia
is_a: DOID:9007156 ! Enteritis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:4033
name: bacterial gastritis
def: "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting. (DO)" [http://www.merck.com/mmhe/sec09/ch121/ch121b.html "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/gastritis-gastropathy/definition-facts "DO"]
xref: NCI:C27340
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:4029 ! gastritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4034
name: fungal gastritis
def: "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients. (DO)" [http://www.merck.com/mmpe/sec02/ch013/ch013c.html "DO"]
xref: NCI:C27342
is_a: DOID:1564 ! fungal infectious disease
is_a: DOID:4029 ! gastritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4035
name: lymphocytic gastritis
def: "An uncommon chronic gastritis characterized by lymphocytosis of foveolar and surface epithelium." []
xref: NCI:C27051
is_a: DOID:4029 ! gastritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4037
name: necrotizing gastritis
xref: NCI:C27329
is_a: DOID:4029 ! gastritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4038
name: granulomatous gastritis
xref: NCI:C27348
is_a: DOID:4029 ! gastritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:404
name: gastrointestinal tuberculosis
def: "An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom constipation, has_symptom nausea, and has_symptom vomiting. (DO)" [http://smj.sma.org.sg/5006/5006pe1.pdf "DO", https://www.ncbi.nlm.nih.gov/pubmed/12864956 "DO"]
synonym: "tuberculosis of gastrointestinal tract" EXACT []
synonym: "tuberculosis of intestines, peritoneum, and mesenteric glands" EXACT []
xref: EFO:0007280
xref: MESH:D014385
is_a: DOID:0050599 ! abdominal tuberculosis
is_a: DOID:77 ! gastrointestinal system disease

[Term]
id: DOID:4043
name: skeletal muscle cancer
synonym: "malignant tumor of skeletal muscle" EXACT []
xref: NCI:C6516
is_a: DOID:4044 ! skeletal muscle neoplasm
is_a: DOID:4045 ! muscle cancer
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:4044
name: skeletal muscle neoplasm
synonym: "tumor of skeletal muscle" EXACT []
xref: NCI:C6514
is_a: DOID:461 ! muscle benign neoplasm
is_a: DOID:9003582 ! Muscle Tissue Neoplasms
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:4045
name: muscle cancer
alt_id: DOID:9008783
def: "A musculoskeletal system cancer that is located_in muscle. (DO)" [http://en.wikipedia.org/wiki/Muscle "DO"]
synonym: "cancer of muscle" EXACT []
synonym: "malignant neoplasm of muscle" EXACT []
synonym: "malignant tumor of muscle" EXACT []
synonym: "malignant tumor of the muscle" EXACT []
synonym: "muscle cancers" EXACT []
synonym: "myosarcoma" EXACT []
synonym: "myosarcomas" EXACT []
xref: EFO:0007384
xref: ICD10CM:C49
xref: MESH:D009217
xref: NCI:C4883
is_a: DOID:0060100 ! musculoskeletal system cancer
is_a: DOID:1115 ! sarcoma
is_a: DOID:9003582 ! Muscle Tissue Neoplasms
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:4047
name: liver rhabdomyosarcoma
def: "A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional/page6 "DO"]
synonym: "rhabdomyosarcoma of liver" EXACT []
xref: NCI:C5834
is_a: DOID:270 ! liver sarcoma
is_a: DOID:3247 ! rhabdomyosarcoma
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:4048
name: central nervous system rhabdomyosarcoma
synonym: "rhabdomyosarcoma of the CNS" EXACT []
xref: NCI:C5464
is_a: DOID:2133 ! central nervous system sarcoma
is_a: DOID:3247 ! rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4049
name: mediastinum rhabdomyosarcoma
def: "A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28024111/ "DO"]
synonym: "rhabdomyosarcoma of mediastinum" EXACT []
xref: NCI:C6617
is_a: DOID:3247 ! rhabdomyosarcoma
is_a: DOID:4050 ! mediastinum sarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4050
name: mediastinum sarcoma
def: "A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum. (DO)" [https://www.sciencedirect.com/science/article/pii/S1556086415305220 "DO"]
synonym: "sarcoma of mediastinum" EXACT []
xref: NCI:C6606
is_a: DOID:1115 ! sarcoma
is_a: DOID:5559 ! mediastinal cancer
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4051
name: alveolar rhabdomyosarcoma
alt_id: MIM:268220
def: "A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. 'Alveolar' refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188)" [MESH:D018232]
synonym: "alveolar childhood rhabdomyosarcoma" EXACT []
synonym: "alveolar rhabdomyosarcomas" EXACT []
synonym: "pediatric alveolar rhabdomyosarcoma" EXACT []
synonym: "rhabdomyosarcoma 2" EXACT []
synonym: "RMS2" EXACT []
synonym: "RMSA" EXACT []
xref: EFO:0000248
xref: GARD:4701
xref: ICDO:8920/3
xref: MESH:D018232
xref: NCI:C3749
xref: NCI:C7958
is_a: DOID:3247 ! rhabdomyosarcoma

[Term]
id: DOID:4053
name: rectum rhabdomyosarcoma
def: "A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors. (DO)" [http://en.wikipedia.org/wiki/Rhabdomyosarcoma "DO"]
synonym: "rhabdomyosarcoma of rectum" EXACT []
xref: NCI:C5627
is_a: DOID:1995 ! rectum sarcoma
is_a: DOID:3247 ! rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4054
name: prostate sarcoma
def: "A prostate cancer that is located_in the prostate. (DO)" [https://radiopaedia.org/articles/prostate-sarcoma "DO"]
synonym: "sarcoma of the prostate" EXACT []
xref: NCI:C7731
is_a: DOID:10283 ! prostate cancer
is_a: DOID:1115 ! sarcoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:4055
name: ectomesenchymoma
synonym: "rhabdomyosarcoma with ganglionic differentiation" EXACT []
xref: ICDO:8921/3
xref: NCI:C4716
is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor

[Term]
id: DOID:4057
name: gallbladder rhabdomyosarcoma
def: "A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles. (DO)" [http://en.wikipedia.org/wiki/Rhabdomyosarcoma "DO", https://gut.bmj.com/content/35/6/854 "DO"]
synonym: "rhabdomyosarcoma of the gallbladder" EXACT []
xref: NCI:C5839
is_a: DOID:3247 ! rhabdomyosarcoma
is_a: DOID:4058 ! gallbladder sarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4058
name: gallbladder sarcoma
def: "A sarcoma that is located_in the gallbladder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19194282 "DO"]
synonym: "malignant mesenchymal tumor of gallbladder" EXACT [NCI2004_11_17:C5736]
xref: NCI:C5736
xref: RDO:9003176
is_a: DOID:1115 ! sarcoma
is_a: DOID:3121 ! gallbladder cancer
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4059
name: ovary rhabdomyosarcoma
def: "An ovary sarcoma that arises from skeletal muscle progenitors. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9553806 "DO"]
synonym: "rhabdomyosarcoma of ovary" EXACT []
xref: NCI:C5236
is_a: DOID:2146 ! ovary sarcoma
is_a: DOID:3247 ! rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4060
name: breast rhabdomyosarcoma
def: "A breast sarcoma that arises from skeletal muscle cells. (DO)" [https://en.wikipedia.org/wiki/Rhabdomyosarcoma "DO"]
synonym: "Rhabdomyosarcoma of the breast" EXACT [NCI2004_11_17:C5190]
xref: NCI:C5190
xref: RDO:9003895
is_a: DOID:3017 ! breast sarcoma
is_a: DOID:3247 ! rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4061
name: testis rhabdomyosarcoma
def: "A testis sarcoma that arises from mesenchymal cells and is located_in the testis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21470524 "DO"]
synonym: "rhabdomyosarcoma of testis" EXACT []
xref: NCI:C6378
is_a: DOID:3247 ! rhabdomyosarcoma
is_a: DOID:4062 ! testis sarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4062
name: testis sarcoma
def: "A sarcoma and malignant neoplasm of testis that is located_in the testis. (DO)" [https://jamanetwork.com/journals/jama/fullarticle/462919 "DO"]
synonym: "sarcoma of testis" EXACT []
xref: NCI:C6359
is_a: DOID:1115 ! sarcoma
is_a: DOID:2998 ! testicular cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4064
name: bile duct sarcoma
def: "A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. (DO)" [http://en.wikipedia.org/wiki/Sarcoma_botryoides "DO"]
synonym: "sarcoma of the bile duct" EXACT []
xref: NCI:C5029
is_a: DOID:1115 ! sarcoma
is_a: DOID:4606 ! bile duct cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4065
name: mixed type rhabdomyosarcoma
synonym: "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" EXACT []
xref: ICDO:8902/3
is_a: DOID:3247 ! rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4066
name: anus rhabdomyosarcoma
def: "A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422314/ "DO"]
synonym: "rhabdomyosarcoma of anus" EXACT []
xref: NCI:C5610
is_a: DOID:3247 ! rhabdomyosarcoma
is_a: DOID:4067 ! anus sarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4067
name: anus sarcoma
def: "A sarcoma and malignant neoplasm of anus that is located_in the anus. (DO)" [http://en.wikipedia.org/wiki/Sarcoma "DO"]
synonym: "sarcoma of anus" EXACT []
xref: NCI:C5611
is_a: DOID:1115 ! sarcoma
is_a: DOID:14110 ! anus cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:407
name: hepatic tuberculosis
def: "A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425874/ "DO"]
synonym: "hepatic tuberculoses" EXACT []
synonym: "tuberculosis of liver" EXACT []
xref: EFO:0007302
xref: MESH:D014386
is_a: DOID:404 ! gastrointestinal tuberculosis
is_a: DOID:409 ! liver disease

[Term]
id: DOID:4071
name: duodenogastric reflux
def: "Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH." [MESH:D004383]
synonym: "Duodenal Reflux" EXACT []
synonym: "Duodenal Refluxs" EXACT []
synonym: "Duodeno Gastric Reflux" EXACT []
xref: EFO:1000909
xref: MESH:D004383
is_a: DOID:4072 ! duodenum disease
is_a: DOID:76 ! stomach disease

[Term]
id: DOID:4072
name: duodenum disease
def: "An intestinal disease that is located_in the duodenum. (DO)" [https://medlineplus.gov/ency/article/002347.htm "DO", MESH:D004378]
synonym: "duodenal disease" EXACT []
synonym: "duodenal diseases" EXACT []
synonym: "duodenum disorder" EXACT []
xref: MESH:D004378
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:4073
name: pancreatic cystadenocarcinoma
synonym: "cystadenocarcinoma of pancreas" EXACT [SNOMEDCT_2005_07_31:235966007]
xref: NCI:C3874
xref: RDO:9002948
is_a: DOID:3111 ! cystadenocarcinoma
is_a: DOID:4074 ! pancreatic adenocarcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4074
name: pancreatic adenocarcinoma
def: "A pancreatic carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of the pancreas" EXACT []
synonym: "pancreas adenocarcinoma" EXACT []
xref: EFO:1000044
xref: NCI:C8294
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4905 ! pancreatic carcinoma

[Term]
id: DOID:4075
name: bile duct cystadenocarcinoma
synonym: "biliary cystadenocarcinoma" EXACT []
xref: ICDO:8161/3
xref: NCI:C4130
is_a: DOID:3111 ! cystadenocarcinoma
is_a: DOID:4896 ! bile duct adenocarcinoma
created_by: rgd
creation_date: 2017-11-15T00:00:00Z

[Term]
id: DOID:4078
name: tricuspid valve stenosis
def: "A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. (DO)" [http://en.wikipedia.org/wiki/Tricuspid_valve_stenosis "DO"]
synonym: "tricuspid stenosis" EXACT []
synonym: "tricuspid valve stenoses" EXACT []
xref: EFO:0007525
xref: MESH:D014264
xref: NCI:C50783
is_a: DOID:0050826 ! tricuspid valve disease

[Term]
id: DOID:4079
name: heart valve disease
def: "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). (DO)" [http://en.wikipedia.org/wiki/Heart_valve_disease "DO"]
synonym: "heart valve diseases" EXACT []
synonym: "Valvular Heart Disease" EXACT []
synonym: "Valvular Heart Diseases" EXACT []
xref: EFO:0009551
xref: MESH:D006349
xref: NCI:C45525
is_a: DOID:114 ! heart disease

[Term]
id: DOID:4080
name: tricuspid valve insufficiency
def: "A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal. (DO)" [http://en.wikipedia.org/wiki/Tricuspid_insufficiency "DO"]
synonym: "tricuspid incompetence" EXACT []
synonym: "tricuspid regurgitation" EXACT []
synonym: "tricuspid valve incompetence" EXACT []
synonym: "tricuspid valve regurgitation" EXACT []
xref: MESH:D014262
xref: NCI:C50842
xref: NCI:C50843
is_a: DOID:0050826 ! tricuspid valve disease

[Term]
id: DOID:4084
name: testicular trophoblastic tumor
xref: NCI:C39934
is_a: DOID:2998 ! testicular cancer
is_a: DOID:4085 ! trophoblastic neoplasm
is_a: DOID:9004207 ! Testicular Neoplasms
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:4085
name: trophoblastic neoplasm
def: "A germ cell and embryonal cancer that derives_from trophoblastic tissue. (DO)" [http://en.wikipedia.org/wiki/Trophoblastic_neoplasm "DO"]
synonym: "Trophoblast Cancer" EXACT []
synonym: "trophoblast cancers" EXACT []
synonym: "Trophoblastic Cancer" EXACT []
synonym: "Trophoblastic Cancers" EXACT []
synonym: "trophoblastic neoplasms" EXACT []
synonym: "Trophoblastic Tumor" EXACT []
synonym: "Trophoblastic Tumors" EXACT []
synonym: "Trophoblast Neoplasm" EXACT []
synonym: "Trophoblast Neoplasms" EXACT []
synonym: "Trophoblast Tumor" EXACT []
synonym: "trophoblast tumors" EXACT []
xref: MESH:D014328
xref: NCI:C3422
is_a: DOID:3095 ! germ cell and embryonal cancer
is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms
is_a: DOID:9007134 ! Neoplastic Pregnancy Complications

[Term]
id: DOID:4086
name: testicular germ cell tumor non-seminomatous
def: "A testicular germ cell cancer characterized by the absence of a seminomatous component. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24819978/ "DO"]
synonym: "Non-Seminomatous Lesion" NARROW []
xref: EFO:1000401
xref: EFO:1000570
xref: ICDO:9065/3
xref: NCI:C9313
xref: RDO:9003739
is_a: DOID:5557 ! testicular germ cell cancer
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4087
name: testicular pure germ cell tumor
xref: NCI:C39915
xref: RDO:9003740
is_a: DOID:5557 ! testicular germ cell cancer
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:409
name: liver disease
def: "Pathological processes of the LIVER. (DO)" []
synonym: "disorder of liver" EXACT []
synonym: "hepatic disorder" EXACT []
synonym: "liver diseases" EXACT []
synonym: "Liver Dysfunction" EXACT []
synonym: "Liver Dysfunctions" EXACT []
synonym: "PI M(MALTON)" RELATED []
xref: EFO:0001421
xref: ICD10CM:K70-K77
xref: ICD10CM:K76.9
xref: ICD9CM:573.9
xref: MESH:D008107
xref: NCI:C3196
is_a: DOID:28 ! endocrine system disease
is_a: DOID:3118 ! hepatobiliary disease

[Term]
id: DOID:4090
name: agnosia
def: "A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "agnosia for pain" EXACT []
synonym: "agnosia for smell" EXACT []
synonym: "agnosia for taste" EXACT []
synonym: "agnosia for tastes" EXACT []
synonym: "Agnosia for Temperature" EXACT []
synonym: "agnosias" EXACT []
synonym: "Body Image Agnosia" EXACT []
synonym: "body-image agnosias" EXACT []
synonym: "Developmental Agnosia" EXACT []
synonym: "developmental agnosias" EXACT []
synonym: "dyspraxia" EXACT []
synonym: "Dyspraxia syndrome" EXACT []
synonym: "Gustatory Agnosia" EXACT []
synonym: "Ideational Agnosia" EXACT []
synonym: "Ideational Agnosias" EXACT []
synonym: "Olfactory Agnosia" EXACT []
synonym: "Olfactory Agnosias" EXACT []
synonym: "position agnosia" EXACT []
synonym: "position agnosias" EXACT []
synonym: "sensory agnosia" EXACT []
synonym: "sensory agnosias" EXACT []
synonym: "visual disorientation syndrome" EXACT []
synonym: "visual disorientation syndromes" EXACT []
synonym: "visuospatial agnosia" EXACT []
synonym: "visuospatial agnosias" EXACT []
xref: EFO:0007136
xref: GARD:8
xref: ICD10CM:R48.1
xref: MESH:D000377
xref: NCI:C84542
is_a: DOID:2033 ! communication disorder
is_a: DOID:9004523 ! Perceptual Disorders

[Term]
id: DOID:4109
name: tick infestation
def: "A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. (DO)" [http://en.wikipedia.org/wiki/Tick "DO", http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm "DO"]
synonym: "tick infestations" EXACT []
xref: EFO:0007508
xref: MESH:D013984
is_a: DOID:4110 ! parasitic ectoparasitic infectious disease

[Term]
id: DOID:4110
name: parasitic ectoparasitic infectious disease
def: "A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. (DO)" [http://en.wikipedia.org/wiki/Ectoparasitic_infestation "DO"]
synonym: "ectoparasitic infestation" EXACT []
synonym: "ectoparasitic infestations" EXACT []
synonym: "ectoparasitism" EXACT []
xref: MESH:D004478
xref: MONDO:0002875
is_a: DOID:9007630 ! Parasitic Skin Diseases

[Term]
id: DOID:4111
name: cervical adenosarcoma
def: "A cervical carcinosarcoma that is located_in the cervix. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17292949/ "DO"]
synonym: "cervical Muellerian adenosarcoma" RELATED []
synonym: "cervical mullerian adenosarcoma" RELATED []
xref: NCI:C40229
is_a: DOID:4112 ! cervical carcinosarcoma
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:4112
name: cervical carcinosarcoma
alt_id: DOID:6173
def: "A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18357808 "DO"]
synonym: "cervical malignant mixed mesodermal mullerian tumor" EXACT []
synonym: "cervical malignant mixed Mullerian tumor" EXACT []
synonym: "cervical mixed epithelial and mesenchymal neoplasm" EXACT []
xref: NCI:C36097
xref: NCI:C40226
xref: NCI:C40228
is_a: DOID:4362 ! cervical cancer

[Term]
id: DOID:4113
name: uterine corpus adenosarcoma
def: "An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus. (DO)" [http://www.wrongdiagnosis.com/a/adenosarcoma_of_the_uterus/intro.htm "DO"]
synonym: "adenosarcoma of uterine corpus" EXACT []
synonym: "uterine corpus mullerian adenosarcoma" EXACT []
xref: NCI:C6336
is_a: DOID:1974 ! adenosarcoma
is_a: DOID:4114 ! uterine body mixed cancer
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:4114
name: uterine body mixed cancer
def: "A uterine corpus cancer that has_material_basis_in more than one type of cell. (DO)" [http://en.wikipedia.org/wiki/Uterine_cancer "DO"]
synonym: "malignant mixed tumor of corpus uteri" EXACT []
xref: NCI:C6311
is_a: DOID:9460 ! uterine corpus cancer
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:4115
name: ovarian mesodermal adenosarcoma
def: "An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12360039 "DO"]
synonym: "ovarian mullerian adenosarcoma" EXACT []
xref: NCI:C7317
xref: RDO:9001890
is_a: DOID:6170 ! ovarian carcinosarcoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:4117
name: vaginal adenosarcoma
def: "A vaginal carcinosarcoma derives_from the glands that line the uterus. (DO)" [http://www.wrongdiagnosis.com/medical/mullerian_adenosarcoma_of_the_uterus.htm "DO"]
xref: NCI:C40277
is_a: DOID:136 ! vaginal carcinosarcoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:4118
name: colon neuroendocrine neoplasm
alt_id: RDO:9002027
synonym: "colonic neuroendocrine tumor" EXACT []
synonym: "Colon Neuroendocrine Tumor G1" NARROW []
synonym: "Colorectal Neuroendocrine Tumor G1" BROAD []
xref: EFO:1000188
xref: EFO:1000195
xref: NCI:C5697
is_a: DOID:235 ! colonic benign neoplasm
is_a: DOID:4119 ! intestinal neuroendocrine benign tumor
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:4119
name: intestinal neuroendocrine benign tumor
synonym: "Cecum Neuroendocrine Tumor G1" NARROW []
synonym: "intestinal neuroendocrine benign tumour" EXACT []
synonym: "neuroendocrine tumor of Intestine" EXACT [NCI2004_11_17:C5695]
synonym: "neuroendocrine tumour of Intestine" EXACT []
xref: EFO:1000154
xref: NCI:C5695
xref: RDO:9003736
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:4610 ! intestinal benign neoplasm
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4123
name: nail disease
def: "An integumentary system disease that is located_in nail. (DO)" [http://en.wikipedia.org/wiki/Nail_disease "DO"]
synonym: "nail diseases" EXACT []
xref: ICD10CM:L60
xref: ICD9CM:703
xref: MESH:D009260
is_a: DOID:16 ! integumentary system disease
is_a: DOID:37 ! skin disease

[Term]
id: DOID:4131
name: erythrasma
def: "A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum. (DO)" [https://en.wikipedia.org/wiki/Erythrasma "DO", https://www.ncbi.nlm.nih.gov/pubmed/30020724 "DO"]
synonym: "infection due to corynebacterium minutissimum" EXACT []
xref: EFO:1000696
xref: ICD10CM:L08.1
xref: MESH:D004894
is_a: DOID:4223 ! pyoderma
is_a: DOID:9003209 ! Bacterial Skin Diseases
is_a: DOID:9003413 ! Corynebacterium Infections

[Term]
id: DOID:4136
name: myxosarcoma
def: "A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)" [MESH:D009236]
synonym: "Myxosarcomas" EXACT []
xref: EFO:1001056
xref: ICDO:8840/3
xref: MESH:D009236
xref: NCI:C3255
is_a: DOID:1115 ! sarcoma
is_a: DOID:201 ! connective tissue cancer

[Term]
id: DOID:4137
name: common bile duct disease
def: "A bile duct disease that is located_in the common bile duct. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/common-bile-duct "DO", MESH:D003137]
synonym: "common bile duct diseases" EXACT []
synonym: "common bile duct disorder" EXACT []
xref: MESH:D003137
xref: MONDO:0002886
is_a: DOID:4138 ! bile duct disease

[Term]
id: DOID:4138
name: bile duct disease
def: "A biliary tract disease located_in one or more bile ducts. (DO)" [https://medlineplus.gov/bileductdiseases.html "DO", https://www.health.harvard.edu/a_to_z/bile-duct-diseases-a-to-z "DO", https://www.nyp.org/cadc/liver-diseases-and-transplantation/bile-duct-disorders "DO"]
synonym: "bile duct diseases" EXACT []
synonym: "bile duct disorder" EXACT []
synonym: "disorder of bile duct" EXACT []
synonym: "Non-Neoplastic Bile Duct Disorder" NARROW []
xref: EFO:1000400
xref: MESH:D001649
xref: NCI:C96716
is_a: DOID:9741 ! biliary tract disease

[Term]
id: DOID:4140
name: biliary dyskinesia
def: "A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. (DO)" [http://en.wikipedia.org/wiki/Biliary_dyskinesia "DO"]
synonym: "biliary dyskinesias" EXACT []
synonym: "gallbladder dyskinesia" EXACT []
synonym: "gallbladder dyskinesias" EXACT []
xref: EFO:0007169
xref: MESH:D001657
is_a: DOID:0060262 ! gallbladder disease
is_a: DOID:4137 ! common bile duct disease

[Term]
id: DOID:4141
name: intraorbital meningioma
def: "A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance. (DO)" [http://www.mayfieldclinic.com/pe-meni.htm "DO"]
xref: NCI:C6778
is_a: DOID:3565 ! meningioma
is_a: DOID:4143 ! orbital cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4143
name: orbital cancer
def: "A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK13668/ "DO"]
synonym: "malignant neoplasm of orbit" EXACT []
synonym: "neoplasm of orbit proper" EXACT []
synonym: "orbital tumor" EXACT []
synonym: "orbit cancer" EXACT []
xref: EFO:0007408
xref: ICD10CM:C69.6
xref: ICD9CM:190.1
xref: NCI:C3290
xref: NCI:C3562
is_a: DOID:184 ! bone cancer
is_a: DOID:9002262 ! Orbital Neoplasms
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4147
name: gastrointestinal adenoma
synonym: "GI adenoma" EXACT []
xref: EFO:1000217
xref: NCI:C36207
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:657 ! adenoma

[Term]
id: DOID:4148
name: gastrointestinal neuroendocrine benign tumor
xref: NCI:C27721
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:4151
name: skull base chordoma
def: "A chordoma that is located_in the skull base. (DO)" [https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=134&ContentID=85 "DO"]
synonym: "chordoma of the skull base" EXACT []
xref: NCI:C5453
is_a: DOID:3302 ! chordoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:4152
name: chondroid chordoma
def: "A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. (DO)" [http://www.ajnr.org/ajnr-case-collections-diagnosis/chondroid-chordoma "DO", https://my.clevelandclinic.org/health/diseases/17916-chordoma "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/ "DO"]
xref: EFO:1000174
xref: ICDO:9371/3
xref: NCI:C6902
is_a: DOID:3302 ! chordoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:4153
name: spinal chordoma
def: "A chordoma that derives_from the spine. (DO)" [http://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/chordoma.html "DO"]
synonym: "chordoma of spine" EXACT []
xref: EFO:1000543
xref: NCI:C5156
is_a: DOID:0060564 ! spinal disease
is_a: DOID:3302 ! chordoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:4154
name: dentinogenesis imperfecta
alt_id: MIM:125490
def: "A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19021896/ "DO"]
synonym: "capdepont teeth" EXACT []
synonym: "Dentinogenesis Imperfecta 1" EXACT []
synonym: "Dentinogenesis Imperfecta, Shields Type 2" EXACT []
synonym: "Dentinogenesis Imperfecta, Shields Type Ii" EXACT []
synonym: "Dentinogenesis Imperfecta without Osteogenesis Imperfecta" EXACT []
synonym: "DGI1" EXACT []
synonym: "DGI-II" EXACT []
synonym: "Hereditary Opalescent Dentin" EXACT []
synonym: "OPALESCENT DENTIN" EXACT []
synonym: "opalescent teeth without osteogenesis imperfecta" EXACT []
xref: GARD:6258
xref: MESH:D003811
xref: NCI:C84667
xref: ORDO:49042
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1091 ! tooth disease
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:4156
name: primary syphilis
def: "A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=primary+syphilis "DO"]
synonym: "symptomatic early syphilis" EXACT []
xref: ICD9CM:091
xref: MESH:C536772
is_a: DOID:4166 ! syphilis

[Term]
id: DOID:4157
name: secondary syphilis
def: "A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=secondary+syphilis "DO"]
synonym: "secondary syphilis of viscera or bone" EXACT []
xref: ICD9CM:091.9
xref: MESH:C536773
xref: NCI:C128413
is_a: DOID:4166 ! syphilis

[Term]
id: DOID:4159
name: skin cancer
def: "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. (DO)" [https://medlineplus.gov/skincancer.html "DO", https://www.genome.gov/Genetic-Disorders/Skin-Cancer "DO"]
synonym: "cancer of skin" EXACT []
synonym: "cancer of the skin" EXACT []
synonym: "CA - skin cancer" EXACT []
synonym: "malignant neoplasm of skin" EXACT []
synonym: "melanoma and non-melanoma skin cancer" EXACT []
synonym: "skin cancers" EXACT []
xref: EFO:0004198
xref: GARD:10421
xref: NCI:C2920
is_a: DOID:0060122 ! integumentary system cancer
is_a: DOID:9004464 ! Skin Neoplasms
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:4160
name: differentiating neuroblastoma
xref: NCI:C42048
is_a: DOID:769 ! neuroblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:4163
name: ganglioneuroblastoma
def: "A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea." []
synonym: "ganglioneuroblastomas" EXACT []
xref: EFO:0000502
xref: ICDO:9490/3
xref: MESH:D018305
xref: NCI:C3790
xref: ORDO:251877
is_a: DOID:769 ! neuroblastoma

[Term]
id: DOID:4164
name: cerebral neuroblastoma
def: "A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells. (DO)" [https://en.wikipedia.org/wiki/Neuroblastoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/6886755 "DO"]
synonym: "neuroblastoma of brain" EXACT []
synonym: "neuroblastoma of cerebrum" EXACT []
synonym: "neuroblastoma of the cerebral hemisphere" EXACT []
xref: NCI:C4826
is_a: DOID:368 ! cerebrum cancer
is_a: DOID:769 ! neuroblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:4166
name: syphilis
alt_id: MESH:D002601
def: "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years. (DO)" [http://en.wikipedia.org/wiki/Syphilis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syphilis "DO"]
synonym: "chancre" EXACT []
synonym: "chancres" EXACT []
synonym: "great pox" EXACT []
synonym: "syphilitic chancre" EXACT []
xref: EFO:0007504
xref: EFO:1001247
xref: ICD10CM:A51.0
xref: MESH:D013587
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9000746 ! Treponemal Infections
is_a: DOID:9006980 ! Bacterial Sexually Transmitted Diseases

[Term]
id: DOID:417
name: autoimmune disease
alt_id: MIM:109100
alt_id: MIM:613551
def: "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. (DO)" [http://en.wikipedia.org/wiki/Autoimmune_disease "DO"]
synonym: "AIS6" RELATED []
synonym: "autoimmune disease 6" RELATED []
synonym: "autoimmune diseases" EXACT []
synonym: "Autoimmune Disease, Susceptibility To, 6" RELATED []
synonym: "autoimmune hypersensitivity disease" EXACT []
synonym: "hypersensitivity reaction type II disease" EXACT []
synonym: "SIAE-RELATED CONDITION" NARROW []
xref: EFO:0005140
xref: EFO:0005809
xref: ICD9CM:720
xref: MESH:D001327
is_a: DOID:2914 ! immune system disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:4175
name: Rh isoimmunization
alt_id: MIM:619462
synonym: "ANTI-D ISOIMMUNIZATION AFFECTING PREGNANCY" NARROW []
synonym: "HEMOLYTIC DISEASE OF FETUS OR NEWBORN DUE TO RHD ISOIMMUNIZATION" NARROW []
synonym: "maternal alloimmunization" EXACT []
synonym: "pregnancy induced alloimmunization" EXACT []
synonym: "Rh incompatibility affecting management of mother" EXACT []
xref: EFO:0008462
xref: EFO:1001159
xref: MESH:D012203
xref: NCI:C113150
is_a: DOID:4176 ! blood group incompatibility
is_a: DOID:74 ! hematopoietic system disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:4176
name: blood group incompatibility
xref: MESH:D001787
is_a: DOID:74 ! hematopoietic system disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:418
name: systemic scleroderma
def: "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. (DO)" [https://ghr.nlm.nih.gov/condition/systemic-scleroderma "DO"]
synonym: "anti-centromere-antibody-positive systemic scleroderma" NARROW []
synonym: "anti-topoisomerase-I-antibody-positive systemic scleroderma" NARROW []
synonym: "progressive scleroderma" EXACT []
synonym: "progressive systemic sclerosis" EXACT []
synonym: "scleroderma syndrome" EXACT []
synonym: "systemic sclerosis" EXACT []
xref: EFO:0000717
xref: EFO:0008536
xref: EFO:0008537
xref: GARD:9748
xref: ICD10CM:M34.0
xref: ICD9CM:710.1
xref: MESH:D012595
xref: NCI:C72070
is_a: DOID:419 ! scleroderma

[Term]
id: DOID:4183
name: pseudopseudohypoparathyroidism
alt_id: MIM:612463
def: "A form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to hormones such as PARATHYROID HORMONE. It is associated with paternally inherited mutant alleles of the ALPHA CHAIN OF STIMULATORY G PROTEIN." [MESH:D011556]
synonym: "Albright Hereditary Osteodystrophy without Multiple Hormone Resistance" EXACT []
synonym: "normocalcemic pseudohypoparathyroidism" EXACT []
synonym: "PPHP" EXACT []
synonym: "Pseudopseudo Hypoparathyroidism" EXACT []
synonym: "pseudo pseudohypoparathyroidism" EXACT []
synonym: "Pseudo-Pseudohypoparathyroidisms" EXACT []
synonym: "Pseudopseudo-Hypoparathyroidisms" EXACT []
synonym: "pseudopseudohypoparathyroidisms" EXACT []
xref: GARD:7860
xref: MESH:D011556
xref: NCI:C129722
is_a: DOID:4184 ! pseudohypoparathyroidism

[Term]
id: DOID:4184
name: pseudohypoparathyroidism
alt_id: RDO:0004655
def: "A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN." [MESH:D011547]
synonym: "PHD1b" EXACT []
synonym: "PHD Ib" EXACT []
synonym: "Pseudohypoparathyroidisms" EXACT []
xref: GARD:10758
xref: ICD10CM:E20.1
xref: MESH:D011547
xref: NCI:C99027
is_a: DOID:10575 ! calcium metabolism disease
is_a: DOID:896 ! metal metabolism disorder
is_a: DOID:9002278 ! Metabolic Bone Diseases

[Term]
id: DOID:4186
name: articulation disorder
alt_id: MESH:C563928
alt_id: MESH:D066229
alt_id: MIM:608445
def: "A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. (DO)" [https://www.stanfordchildrens.org/en/topic/default?id=speech-sound-disorders-in-children-160-236 "DO"]
synonym: "articulation disorders" EXACT []
synonym: "articulation impairment" EXACT []
synonym: "developmental articulation disorder" EXACT []
synonym: "developmental articulation disorders" EXACT []
synonym: "disarticulation disorder" EXACT []
synonym: "disarticulation disorders" EXACT []
synonym: "Misarticulation" EXACT []
synonym: "phonological disorder" EXACT []
synonym: "phonological disorders" EXACT []
synonym: "Phonological Impairment" EXACT []
synonym: "Phonological Impairments" EXACT []
synonym: "Phonology Impairment" EXACT []
synonym: "Phonology Impairments" EXACT []
synonym: "Speech Articulation Disorder" EXACT []
synonym: "Speech Articulation Disorders" EXACT []
synonym: "speech sound disorder" EXACT []
synonym: "speech-sound disorder, hereditary" EXACT []
synonym: "speech sound disorders" EXACT []
synonym: "SSD" EXACT []
synonym: "unintelligible articulation" EXACT []
synonym: "unintelligible articulations" EXACT []
xref: MESH:D001184
xref: MONDO:0002903
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:4188
name: echolalia
def: "A speech disorder that involves the automatic repetition of vocalizations made by another person. (DO)" [http://en.wikipedia.org/wiki/Echolalia "DO"]
synonym: "echophrasia" EXACT []
synonym: "Echo Reaction" EXACT []
synonym: "echo reactions" EXACT []
synonym: "Echo Speech" EXACT []
xref: MESH:D004454
xref: NCI:C97166
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:4189
name: mutism
def: "A speech disorder that involves a complete inability to speak. (DO)" [http://en.wikipedia.org/wiki/Mutism "DO", http://en.wikipedia.org/wiki/Speech_disorder "DO"]
synonym: "Conversion Mutism" EXACT []
synonym: "conversion mutisms" EXACT []
synonym: "Elective Mutism" EXACT []
synonym: "Elective Mutisms" EXACT []
synonym: "Kussmaul's Aphasia" EXACT []
synonym: "Kussmaul Aphasia" EXACT []
synonym: "Kussmauls Aphasia" EXACT []
synonym: "Mutisms" EXACT []
synonym: "Organic Mutism" EXACT []
synonym: "Organic Mutisms" EXACT []
synonym: "Selective Mutism" EXACT []
synonym: "Voluntary Mutism" EXACT []
synonym: "voluntary mutisms" EXACT []
xref: MESH:D009155
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:419
name: scleroderma
def: "A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. (DO)" [http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp "DO", https://scleroderma.org/ "DO"]
synonym: "dermatosclerosis" EXACT []
xref: EFO:1001361
xref: EFO:1001993
xref: NCI:C26746
is_a: DOID:1575 ! rheumatic disease
is_a: DOID:854 ! collagen disease
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:4193
name: intracranial thrombosis
def: "Formation or presence of a blood clot (THROMBUS) in a blood vessel within the SKULL. Intracranial thrombosis can lead to thrombotic occlusions and BRAIN INFARCTION. The majority of the thrombotic occlusions are associated with ATHEROSCLEROSIS." [MESH:D020767]
synonym: "brain thromboses" EXACT []
synonym: "Brain Thrombosis" EXACT []
synonym: "Brain Thrombus" EXACT []
synonym: "Cerebral Thromboses" EXACT []
synonym: "Cerebral Thrombosis" EXACT []
synonym: "Cerebral Thrombus" EXACT []
synonym: "cerebral venous thrombosis" NARROW []
synonym: "CVT" NARROW []
synonym: "Intracranial Thromboses" EXACT []
synonym: "intracranial thrombus" EXACT []
xref: ICD9CM:434.0
xref: MESH:D020767
xref: MONDO:0002907
is_a: DOID:0060903 ! thrombosis
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9005741 ! Intracranial Embolism and Thrombosis

[Term]
id: DOID:4194
name: glucose metabolism disease
def: "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range. (DO)" [https://empendium.com/mcmtextbook/chapter/B31.II.24.11. "DO", https://pubmed.ncbi.nlm.nih.gov/39067965/ "DO", MESH:D044882]
synonym: "disorder of glucose metabolism" EXACT []
synonym: "glucose metabolic disorder" EXACT []
synonym: "glucose metabolic disorders" EXACT []
synonym: "glucose metabolism disorder" EXACT []
synonym: "glucose metabolism disorders" EXACT []
xref: EFO:0009406
xref: MESH:D044882
xref: MONDO:0002908
xref: NCI:C53655
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:4195
name: hyperglycemia
def: "Abnormally high BLOOD GLUCOSE level." [MESH:D006943]
synonym: "Hyperglycemias" EXACT []
synonym: "Postprandial Hyperglycemia" EXACT []
synonym: "Postprandial Hyperglycemias" EXACT []
xref: ICD10CM:R73.9
xref: MESH:D006943
xref: MONDO:0002909
xref: NCI:C26797
is_a: DOID:4194 ! glucose metabolism disease

[Term]
id: DOID:4196
name: femoral neuropathy
def: "A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve. (DO)" [https://medlineplus.gov/ency/article/000687.htm "DO"]
synonym: "Femoral Mononeuropathies" EXACT []
synonym: "Femoral Mononeuropathy" EXACT []
synonym: "Femoral Nerve Disease" EXACT []
synonym: "Femoral Nerve Diseases" EXACT []
synonym: "femoral nerve dysfunction" EXACT []
synonym: "femoral nerve lesions" EXACT []
synonym: "Femoral Neuritis" EXACT []
synonym: "Femoral Neuropathies" EXACT []
xref: EFO:1000936
xref: ICD10CM:G57.2
xref: MESH:D020428
xref: NCI:C27595
is_a: DOID:1188 ! mononeuropathy

[Term]
id: DOID:420
name: hypertrichosis
def: "A hair disease characterized by hair growth that is abnormal in quantity or location. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18328202 "DO"]
synonym: "hypertrichoses" EXACT []
xref: ICD10CM:L68
xref: MESH:D006983
xref: NCI:C79597
xref: ORDO:79365
is_a: DOID:421 ! hair disease

[Term]
id: DOID:4201
name: peroneal neuropathy
xref: NCI:C27596
is_a: DOID:1188 ! mononeuropathy

[Term]
id: DOID:4202
name: brain stem glioma
def: "A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells. (DO)" [https://en.wikipedia.org/wiki/Brainstem_glioma "DO"]
synonym: "Brain Stem Glioblastoma" NARROW []
synonym: "brainstem neuroglial tumor" EXACT []
xref: EFO:1000141
xref: EFO:1000142
xref: NCI:C8501
is_a: DOID:0060108 ! brain glioma
is_a: DOID:3070 ! high grade glioma
is_a: DOID:4203 ! brain stem cancer

[Term]
id: DOID:4203
name: brain stem cancer
synonym: "malignant neoplasm of brain stem" EXACT []
synonym: "malignant neoplasm of brainstem" EXACT []
synonym: "malignant tumor of brainstem" EXACT []
synonym: "neoplasm of adult brain stem" EXACT []
synonym: "neoplasm of brain stem" EXACT []
synonym: "primary brain stem neoplasm" EXACT []
synonym: "primary brain stem tumor" EXACT []
synonym: "tumor of adult brainstem" EXACT []
synonym: "tumor of the brainstem" EXACT []
xref: GARD:8244
xref: ICD9CM:191.7
xref: NCI:C3570
xref: NCI:C4869
xref: NCI:C4975
xref: NCI:C5967
is_a: DOID:4706 ! infratentorial cancer

[Term]
id: DOID:4205
name: cerebellum cancer
synonym: "cerebellar cancer" EXACT []
synonym: "cerebellar cancers" EXACT []
synonym: "malignant cerebellar neoplasm" EXACT []
synonym: "malignant cerebellar neoplasms" EXACT []
synonym: "malignant tumor of cerebellum" EXACT []
xref: EFO:1000858
xref: ICD10CM:C71.6
xref: ICD9CM:191.6
xref: NCI:C2935
xref: NCI:C3569
is_a: DOID:4706 ! infratentorial cancer
is_a: DOID:9001689 ! Cerebellar Neoplasms

[Term]
id: DOID:4206
name: childhood brain stem neoplasm
def: "A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5969 "DO"]
synonym: "pediatric tumor of brainstem" EXACT []
xref: NCI:C5969
is_a: DOID:4203 ! brain stem cancer

[Term]
id: DOID:4207
name: childhood infratentorial neoplasm
def: "A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5802 "DO"]
synonym: "pediatric infratentorial tumor" EXACT []
xref: NCI:C5802
xref: RDO:9004166
is_a: DOID:4203 ! brain stem cancer
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4209
name: brainstem intraparenchymal clear cell meningioma
synonym: "intraparenchymal clear cell meningioma of the brainstem" EXACT []
xref: NCI:C5295
is_a: DOID:4210 ! clear cell meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:421
name: hair disease
def: "An integumentary system disease that is located_in hair. (DO)" [http://en.wikipedia.org/wiki/Hair_disease "DO"]
synonym: "hair diseases" EXACT []
xref: MESH:D006201
xref: NCI:C34656
is_a: DOID:16 ! integumentary system disease
is_a: DOID:37 ! skin disease

[Term]
id: DOID:4210
name: clear cell meningioma
xref: EFO:1000180
xref: ICDO:9538/1
xref: NCI:C4722
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4211
name: posterior fossa meningioma
def: "A meningioma that affects the posterior cranial fossa. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33814376/ "DO"]
synonym: "meningioma of the posterior cranial fossa" EXACT []
synonym: "posterior cranial fossa meningioma" EXACT []
xref: NCI:C6775
is_a: DOID:4437 ! skull base meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4217
name: malignant ovarian Brenner tumor
def: "A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40026 "DO"]
synonym: "Malignant Brenner Tumor" EXACT []
xref: EFO:1000357
xref: NCI:C4270
is_a: DOID:2151 ! malignant ovarian surface epithelial-stromal neoplasm
is_a: DOID:9003150 ! Brenner Tumor

[Term]
id: DOID:422
name: congenital structural myopathy
alt_id: OMIA:001374
def: "A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23897157/ "DO", MESH:D020914]
synonym: "centronuclear myopathy, autosomal dominant" EXACT []
synonym: "congenital fiber type disproportion myopathy" EXACT []
synonym: "congenital non progressive myopathies" EXACT []
synonym: "congenital non-progressive myopathy" EXACT []
synonym: "congenital structural myopathies" EXACT []
synonym: "MTM1" EXACT []
synonym: "Myotubular Myopathies" EXACT []
synonym: "myotubular myopathy" EXACT []
synonym: "myotubular myopathy 1" EXACT []
xref: MESH:D020914
xref: NCI:C84648
is_a: DOID:0080015 ! physical disorder
is_a: DOID:0081337 ! congenital myopathy
is_a: DOID:9008582 ! Developmental Disease

[Term]
id: DOID:4223
name: pyoderma
def: "A dermatitis that is characterized by a pyogenic infection causing the formation of pus. (DO)" [http://en.wikipedia.org/wiki/Pyoderma "DO", http://en.wikipedia.org/wiki/Pyogenic "DO"]
synonym: "Pyodermas" EXACT []
xref: ICD10CM:L08.0
xref: ICD9CM:686.0
xref: MESH:D011711
is_a: DOID:2723 ! dermatitis

[Term]
id: DOID:4226
name: endometrial stromal sarcoma
def: "An endometrial stromal tumor that has_material_basis_in connective tissue. (DO)" [https://en.wikipedia.org/wiki/Endometrial_stromal_sarcoma "DO"]
synonym: "endometrial stromal sarcoma, high grade" EXACT []
synonym: "endometrial stromal sarcomas" EXACT []
synonym: "ESS" EXACT []
synonym: "undifferentiated endometrial sarcoma" EXACT []
xref: EFO:1000919
xref: GARD:6339
xref: ICDO:8930/3
xref: MESH:D018203
xref: NCI:C60395
xref: NCI:C8973
is_a: DOID:5166 ! endometrial stromal tumor
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:4227
name: uterine corpus endometrial stromal sarcoma
def: "A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining. (DO)" [https://www.cancer.org/cancer/uterine-sarcoma/about/what-is-uterine-sarcoma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/21652246 "DO"]
synonym: "uterine corpus endometrial stromal tumor" EXACT []
xref: NCI:C40219
xref: RDO:9004551
is_a: DOID:4226 ! endometrial stromal sarcoma
is_a: DOID:5165 ! uterine corpus sarcoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:423
name: myopathy
def: "A muscular disease in which the muscle fibers do not function resulting in muscular weakness. (DO)" [http://en.wikipedia.org/wiki/Myopathy "DO"]
synonym: "acute quadriplegic myopathy" NARROW []
synonym: "Myopathic Condition" EXACT []
synonym: "Myopathic Conditions" EXACT []
synonym: "Myopathies" EXACT []
synonym: "skeletal myopathy" NARROW []
synonym: "variable myopathy" NARROW []
xref: EFO:0000225
xref: EFO:0004145
xref: ICD10CM:G72.9
xref: ICD10CM:M60-M63
xref: ICD10CM:M62.9
xref: ICD9CM:359.9
xref: MIM:PS160565
xref: NCI:C101216
is_a: DOID:66 ! muscle tissue disease
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:4230
name: smooth muscle cancer
synonym: "malignant tumor of smooth muscle" EXACT []
xref: NCI:C6511
is_a: DOID:4045 ! muscle cancer
is_a: DOID:4310 ! smooth muscle tumor
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:4231
name: histiocytoma
def: "A neoplasm containing HISTIOCYTES. Important forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA." [MESH:D051642]
synonym: "histiocytomas" EXACT []
xref: EFO:0005561
xref: ICDO:8831/0
xref: MESH:D051642
xref: NCI:C35765
is_a: DOID:0060123 ! connective tissue benign neoplasm
is_a: DOID:9008446 ! Fibrous Tissue Neoplasms

[Term]
id: DOID:4232
name: extraosseous Ewing sarcoma
def: "A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27293 "DO"]
synonym: "Ewing sarcoma of soft tissue" EXACT []
synonym: "extraosseous Ewing's sarcoma" EXACT []
synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT []
synonym: "extraskeletal Ewing sarcom" EXACT []
synonym: "extraskeletal Ewing sarcoma" EXACT []
xref: NCI:C27293
xref: ORDO:370334
is_a: DOID:3369 ! Ewing sarcoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:4233
name: clear cell sarcoma
def: "A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. (DO)" [http://en.wikipedia.org/wiki/Clear-cell_sarcoma "DO"]
synonym: "adult soft part clear cell sarcoma" EXACT []
synonym: "clear cell sarcoma of soft parts" EXACT []
synonym: "clear cell sarcomas" EXACT []
synonym: "malignant melanoma of soft parts" EXACT []
synonym: "malignant melanoma of soft tissues" EXACT []
xref: EFO:0008498
xref: ICDO:9044/3
xref: MESH:D018227
xref: NCI:C27370
xref: NCI:C3745
is_a: DOID:1115 ! sarcoma
is_a: DOID:9003944 ! Connective Tissue Neoplasms

[Term]
id: DOID:4235
name: spindle cell sarcoma
def: "A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy. (DO)" [http://medical-dictionary.thefreedictionary.com/spindle+cell+sarcoma "DO"]
synonym: "spindle cell sarcomas" EXACT []
xref: ICDO:8801/3
xref: NCI:C27005
xref: RDO:9003618
is_a: DOID:1115 ! sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4236
name: carcinosarcoma
def: "A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. (DO)" [http://en.wikipedia.org/wiki/Mixed_M%C3%BCllerian_tumor "DO", http://www.cancer.gov/Common/PopUps/popDefinition.aspx?id=44003&version=Patient&language=English "DO", http://www.cancer.gov/dictionary/?CdrID=44003 "DO"]
synonym: "carcinosarcomas" EXACT []
xref: ICDO:8980/3
xref: MESH:D002296
xref: NCI:C34448
xref: NCI:C3730
xref: NCI:C8975
is_a: DOID:1115 ! sarcoma
is_a: DOID:154 ! mixed cell type cancer

[Term]
id: DOID:4239
name: alveolar soft part sarcoma
alt_id: MIM:606243
def: "A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. (DO)" [http://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma "DO"]
synonym: "adult alveolar soft part sarcoma" EXACT []
synonym: "ASPS" EXACT []
synonym: "childhood alveolar soft part sarcoma" EXACT []
synonym: "pediatric alveolar soft part sarcoma" EXACT []
xref: EFO:0007143
xref: GARD:5654
xref: ICDO:9581/3
xref: MESH:D018234
xref: NCI:C3750
xref: NCI:C7943
xref: NCI:C8092
xref: ORDO:163699
is_a: DOID:1115 ! sarcoma
is_a: DOID:4043 ! skeletal muscle cancer
is_a: DOID:9003582 ! Muscle Tissue Neoplasms

[Term]
id: DOID:424
name: pulmonary immaturity
def: "A lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846321/ "DO"]
synonym: "primary atelectasis, in perinatal period" EXACT []
synonym: "primary atelectasis of newborn" EXACT []
xref: ICD10CM:P28.0
xref: ICD9CM:770.4
is_a: DOID:850 ! lung disease
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:4242
name: kidney sarcoma
def: "A kidney cancer that is located in the kidney's connective tissue. (DO)" [http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_kidney_cancer_22.asp "DO"]
synonym: "renal sarcoma" EXACT []
synonym: "sarcoma of kidney" EXACT []
xref: NCI:C4525
is_a: DOID:1115 ! sarcoma
is_a: DOID:263 ! kidney cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4247
name: coronary restenosis
def: "Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." [MESH:D023903]
synonym: "Coronary Restenoses" EXACT []
xref: EFO:0004224
xref: MESH:D023903
is_a: DOID:4248 ! coronary stenosis

[Term]
id: DOID:4248
name: coronary stenosis
def: "Narrowing or constriction of a coronary artery." [MESH:D023921]
synonym: "coronary artery stenoses" EXACT []
synonym: "coronary artery stenosis" EXACT []
synonym: "coronary stenoses" EXACT []
xref: EFO:1000882
xref: MESH:D023921
xref: MONDO:0006715
xref: NCI:C80427
is_a: DOID:3393 ! coronary artery disease
is_a: DOID:9000528 ! Coronary Disease

[Term]
id: DOID:4249
name: Gerstmann-Straussler-Scheinker syndrome
alt_id: MIM:137440
def: "A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. (DO)" [http://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome "DO", http://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease "DO", http://www.cdc.gov/ncidod/dvrd/prions/ "DO"]
synonym: "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS" EXACT []
synonym: "cerebral amyloid angiopathy, PRNP-related" NARROW []
synonym: "Gerstmann Straussler Disease" EXACT []
synonym: "Gerstmann-Straussler diseases" EXACT []
synonym: "Gerstmann Straussler Inherited Spongiform Encephalopathy" EXACT []
synonym: "Gerstmann-Straussler-Scheinker disease" EXACT []
synonym: "Gerstmann Straussler syndrome" EXACT []
synonym: "GSD" EXACT []
synonym: "GSS" EXACT []
synonym: "subacute spongiform encephalopathy, Gerstmann-Straussler type" EXACT []
xref: GARD:7690
xref: ICD10CM:A81.82
xref: ICD9CM:046.71
xref: MESH:D016098
xref: NCI:C84727
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9006061 ! Cerebral Amyloidosis with Spongiform Encephalopathy

[Term]
id: DOID:4250
name: conjunctivochalasis
def: "A conjunctival disease characterized by the presence of excess folds of the conjunctiva located between the globe of the eye and the eye-lid margin." []
xref: ICD10CM:H11.82
xref: ICD9CM:372.81
is_a: DOID:4251 ! conjunctival disease

[Term]
id: DOID:4251
name: conjunctival disease
def: "An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27605 "DO"]
synonym: "conjunctival diseases" EXACT []
xref: EFO:1000203
xref: ICD10CM:H11.9
xref: ICD9CM:372.9
xref: MESH:D003229
xref: NCI:C27605
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:4252
name: Alexander disease
alt_id: DOID:9002692
alt_id: MESH:C531607
alt_id: MIM:203450
alt_id: OMIA:001208
def: "A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. (DO)" [http://en.wikipedia.org/wiki/Alexander_disease "DO", http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm "DO", http://www.omim.org/entry/203450 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract "DO"]
synonym: "Alexander's disease" EXACT []
synonym: "Alexanders disease" EXACT []
synonym: "Alexanders Leukodystrophy" EXACT []
synonym: "ALXDRD" EXACT []
synonym: "Demyelinogenic Leukodystrophy" EXACT []
synonym: "dysmyelinogenic leukodystrophy" EXACT []
synonym: "fibrinoid degeneration of astrocytes" EXACT []
synonym: "GFAP-RELATED CONDITION" EXACT []
synonym: "leukodystrophy with Rosenthal fibers" EXACT []
xref: GARD:5774
xref: MESH:D038261
xref: NCI:C84545
xref: ORDO:58
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:4253
name: melorheostosis
alt_id: MIM:155950
def: "An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. (DO)" [http://en.wikipedia.org/wiki/Melorheostosis "DO", http://www.melorheostosis.com/ "DO"]
synonym: "MAP2K1-RELATED DISORDER" BROAD []
synonym: "MEL" EXACT []
synonym: "Melorheostoses" EXACT []
synonym: "MELORHEOSTOSIS, ISOLATED" EXACT []
synonym: "MELORHEOSTOSIS, ISOLATED, SOMATIC MOSAIC" EXACT []
synonym: "Melorheostosis of Leri" EXACT []
xref: GARD:9474
xref: MESH:D008557
xref: NCI:C84887
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:4254
name: osteosclerosis
def: "A bone remodeling disease that results_in abnormal elevated bone density or mass. (DO)" [http://en.wikipedia.org/wiki/Osteosclerosis "DO"]
synonym: "osteoscleroses" EXACT []
xref: MESH:D010026
xref: NCI:C41236
is_a: DOID:0080005 ! bone remodeling disease
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:4257
name: Caffey disease
alt_id: MIM:114000
def: "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability. (DO)" [http://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis "DO"]
synonym: "Caffey De Toni Silvermann Syndrome" EXACT []
synonym: "congenital cortical hyperostoses" EXACT []
synonym: "cortical congenital hyperostosis" EXACT []
synonym: "Familial Caffey's Disease" EXACT []
synonym: "Familial Caffey Disease" EXACT []
synonym: "Familial Caffeys Disease" EXACT []
synonym: "Familial Infantile Cortical Hyperostosis" EXACT []
synonym: "Infantile Cortical Hyperostoses" EXACT []
synonym: "infantile cortical hyperostosis" EXACT []
xref: EFO:0004139
xref: GARD:1051
xref: ICD10CM:M89.8
xref: MESH:D006958
xref: MONDO:0007244
xref: NCI:C118423
xref: NCI:C84645
is_a: DOID:205 ! hyperostosis
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:3342 ! bone inflammation disease
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:4258
name: Weissenbacher-Zweymuller syndrome
alt_id: MIM:261800
alt_id: OMIA:001919
def: "An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. (DO)" [http://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome "DO", http://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome "DO", http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=4351 "DO", http://www.healthline.com/galecontent/weissenbacher-zweymuller-syndrome-1 "DO"]
synonym: "cleft palate 1" EXACT []
synonym: "glossoptosis, micrognathia, and cleft palate" EXACT []
synonym: "Piere-Robin syndrome" EXACT []
synonym: "Pierre Robin's Sequence" EXACT []
synonym: "PIERRE ROBIN-LIKE SYNDROME" NARROW []
synonym: "Pierre Robin malformation" EXACT []
synonym: "Pierre Robin Sequence" EXACT []
synonym: "Pierre Robins sequence" EXACT []
synonym: "Pierre Robin syndrome" EXACT []
synonym: "PRBNS" EXACT []
synonym: "Robin sequence" EXACT []
synonym: "Weissenbacher-Zweymüller syndrome" EXACT []
synonym: "WZS" EXACT []
xref: MESH:D010855
xref: NCI:C85010
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9000066 ! Jaw Abnormalities

[Term]
id: DOID:4260
name: gait apraxia
def: "Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER'S DISEASE; and other conditions may be associated with gait apraxia." [MESH:D020235]
synonym: "Apraxia of Gait" EXACT []
synonym: "Bruns' Apraxia of Gait" EXACT []
synonym: "Bruns' gait apraxias" EXACT []
synonym: "Bruns Gait Apraxia" EXACT []
synonym: "Dyspraxia of Gait" EXACT []
synonym: "Frontal Gait Apraxia" EXACT []
synonym: "Frontal Gait Apraxias" EXACT []
synonym: "Gait Apraxias" EXACT []
synonym: "Gait Dyspraxia" EXACT []
synonym: "gait dyspraxias" EXACT []
xref: EFO:1000944
xref: MESH:D020235
is_a: DOID:0060135 ! apraxia
is_a: DOID:9006230 ! Neurologic Gait Disorders

[Term]
id: DOID:4265
name: angiomyoma
def: "A leiomyoma that is located_in the blood vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202094/ "DO"]
synonym: "angioleiomyoma" EXACT []
synonym: "angioleiomyomas" EXACT []
synonym: "angiomyomas" EXACT []
synonym: "vascular leiomyoma" EXACT []
synonym: "vascular leiomyomas" EXACT []
xref: EFO:1000084
xref: EFO:1000806
xref: MESH:D018229
xref: NCI:C3747
is_a: DOID:127 ! leiomyoma
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:4266
name: intravascular angioleiomyoma
xref: NCI:C5355
is_a: DOID:4265 ! angiomyoma

[Term]
id: DOID:4267
name: akinetic mutism
def: "A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. (DO)" [http://en.wikipedia.org/wiki/Akinetic_mutism "DO", https://www.ncbi.nlm.nih.gov/pubmed/14642361 "DO"]
synonym: "Akinetic Autism" EXACT []
synonym: "Akinetic Mutisms" EXACT []
synonym: "Coma Vigil" EXACT []
synonym: "Coma Vigilans" EXACT []
xref: EFO:0007138
xref: MESH:D000405
xref: MONDO:0005640
is_a: DOID:225 ! syndrome
is_a: DOID:936 ! brain disease

[Term]
id: DOID:4270
name: encephalitozoonosis
def: "A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35202528/ "DO"]
synonym: "Encephalitozoonoses" EXACT []
synonym: "infection by Encephalitozoon" EXACT []
xref: EFO:0007250
xref: MESH:D016890
is_a: DOID:4271 ! microsporidiosis

[Term]
id: DOID:4271
name: microsporidiosis
def: "An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Microsporidiosis.htm "DO"]
synonym: "infection by Microspora" EXACT []
synonym: "infection by Microsporea" EXACT []
synonym: "infection by Microsporida" EXACT []
synonym: "Microspora Infection" EXACT []
synonym: "Microspora Infections" EXACT []
synonym: "Microsporidioses" EXACT []
xref: EFO:0007366
xref: GARD:3655
xref: ICD10CM:B60.8
xref: MESH:D016881
xref: NCI:C84891
is_a: DOID:2473 ! opportunistic mycosis

[Term]
id: DOID:4277
name: penis basal cell carcinoma
def: "A basal cell carcinoma that is located_in the penis. (DO)" [https://www.cancer.org/cancer/penile-cancer/about/what-is-penile-cancer.html "DO"]
synonym: "basal cell carcinoma of the penis" EXACT []
xref: NCI:C39961
is_a: DOID:2513 ! basal cell carcinoma
is_a: DOID:3449 ! penis carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:4278
name: scrotum basal cell carcinoma
def: "Basal cell carcinoma of scrotum." []
synonym: "Basal cell carcinoma of scrotum" EXACT [NCI2004_11_17:C6386]
synonym: "basal cell carcinoma of the scrotum" EXACT []
xref: NCI:C6386
is_a: DOID:2513 ! basal cell carcinoma
is_a: DOID:3445 ! scrotal carcinoma
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:4279
name: infundibulocystic basal cell carcinoma
alt_id: MIM:604451
alt_id: RDO:0003532
def: "A variant of basal cell carcinoma characterized by follicular differentiation. (DO)" [https://www.dermnetnz.org/topics/basal-cell-carcinoma-pathology/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/2235986 "DO"]
synonym: "basal cell carcinoma with follicular differentiation" EXACT []
synonym: "skin infundibulocystic basal cell carcinoma" EXACT []
xref: MESH:C537655
is_a: DOID:2513 ! basal cell carcinoma

[Term]
id: DOID:4280
name: nodular basal cell carcinoma
def: "A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573444/ "DO"]
synonym: "circumscribed solid basal cell carcinoma" EXACT []
synonym: "skin nodulo-ulcerative basal cell carcinoma" EXACT []
synonym: "skin solid (nodular) basal cell carcinoma" EXACT []
xref: NCI:C62282
is_a: DOID:2513 ! basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4281
name: metatypical basal cell carcinoma
def: "A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2585560/ "DO"]
synonym: "Basosquamous carcinoma of skin" EXACT []
synonym: "skin metatypical basal cell carcinoma" EXACT []
synonym: "skin Metatypical carcinoma" EXACT [NCI2004_11_17:C2922]
xref: RDO:9003254
is_a: DOID:2513 ! basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4282
name: pigmented basal cell carcinoma
def: "A basal cell carcinoma characterized by brown or black pigmentation. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919288/ "DO"]
synonym: "skin pigmented basal cell carcinoma" EXACT []
xref: RDO:9003256
is_a: DOID:2513 ! basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4283
name: anal margin basal cell carcinoma
def: "A basal cell carcinoma that is located_in the anal margin. (DO)" [https://www.cancer.org/cancer/anal-cancer/about/what-is-anal-cancer.html "DO"]
synonym: "basal cell carcinoma of anal margin" EXACT []
synonym: "basal cell carcinoma of perianal skin" EXACT []
xref: ICD10CM:C44.510
xref: NCI:C7473
xref: RDO:9002344
is_a: DOID:2513 ! basal cell carcinoma
is_a: DOID:4284 ! anal margin carcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:4284
name: anal margin carcinoma
def: "An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). (DO)" [http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp "DO"]
synonym: "carcinoma of anal margin" RELATED []
synonym: "Perianal skin carcinoma" EXACT [NCI2004_11_17:C7472]
xref: NCI:C7472
xref: RDO:9002343
is_a: DOID:3451 ! skin carcinoma
is_a: DOID:4908 ! anal carcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:4286
name: skin nasal cell carcinoma with sebaceous differentiation
def: "A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin. (DO)" [https://journals.lww.com/prsgo/fulltext/2020/12000/basal_cell_carcinoma_with_sebaceous.50.aspx "DO"]
synonym: "sebaceous basal cell carcinoma" EXACT []
synonym: "skin basosebaceous basal cell carcinoma" EXACT []
xref: NCI:C4346
is_a: DOID:2513 ! basal cell carcinoma
is_a: DOID:4840 ! sebaceous carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4287
name: external ear basal cell carcinoma
synonym: "basal cell carcinoma of external ear" EXACT []
synonym: "basal cell carcinoma of the external ear" EXACT []
xref: NCI:C6082
is_a: DOID:2513 ! basal cell carcinoma
is_a: DOID:4288 ! external ear carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:4288
name: external ear carcinoma
def: "An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "carcinoma of external ear" EXACT []
synonym: "carcinoma of the external ear" EXACT []
xref: NCI:C6081
is_a: DOID:305 ! carcinoma
is_a: DOID:5665 ! external ear cancer
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:4289
name: micronodular basal cell carcinoma
def: "A basal cell carcinoma characterized by solid tumor nodules. (DO)" [https://www.dermnetnz.org/topics/basal-cell-carcinoma-pathology/ "DO"]
synonym: "skin micronodular basal cell carcinoma" EXACT []
is_a: DOID:2513 ! basal cell carcinoma
is_a: DOID:4280 ! nodular basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:429
name: gynatresia
def: "A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina. (DO)" [https://fertilitypedia.org/edu/diagnoses/gynatresia "DO", https://www.ncbi.nlm.nih.gov/pubmed/22717415 "DO"]
synonym: "Asherman's Syndrome" EXACT []
synonym: "Ashermans Syndrome" EXACT []
synonym: "Asherman Syndrome" EXACT []
synonym: "Gynatresias" EXACT []
synonym: "Intrauterine Synechiae" EXACT []
synonym: "Uterine Synechiae" EXACT []
xref: EFO:1001335
xref: MESH:D006175
xref: NCI:C84743
is_a: DOID:229 ! female reproductive system disease

[Term]
id: DOID:4290
name: adamantinoid basal cell epithelioma
synonym: "Basal cell carcinoma - adamantinoid" EXACT [SNOMEDCT_2005_07_31:402524007]
synonym: "Melanotic adamantinoma of skin" EXACT [SNOMEDCT_2005_07_31:254728002]
synonym: "skin adamantinoid basal cell epithelioma" EXACT []
xref: NCI:C7585
xref: RDO:9003260
is_a: DOID:2513 ! basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4291
name: fibroepithelial basal cell carcinoma
synonym: "Fibroepithelioma of Pinkus" EXACT [SNOMEDCT_2005_07_31:254703005]
synonym: "Fibroepithelioma of Pinkus type" EXACT [SNOMEDCT_2005_07_31:43369006]
synonym: "Pinkus tumor" EXACT [NCI2004_11_17:C4109]
xref: NCI:C4109
xref: RDO:9003262
is_a: DOID:2513 ! basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4292
name: morpheaform basal cell carcinoma
synonym: "Basal cell carcinoma, morphea" EXACT [SNOMEDCT_2005_07_31:56665009]
synonym: "Cicatricial basal-cell carcinoma" EXACT []
synonym: "Morphea-type (Sclerosing) Basal cell carcinoma" EXACT [NCI2004_11_17:C27182]
xref: NCI:C27182
xref: RDO:9003263
is_a: DOID:2513 ! basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4293
name: clear cell basal cell carcinoma
synonym: "skin clear cell basal cell carcinoma" EXACT []
xref: NCI:C27536
xref: RDO:9003267
is_a: DOID:2513 ! basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4294
name: adenoid basal cell carcinoma
def: "A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4840735/ "DO"]
synonym: "skin adenoid basal cell carcinoma" EXACT []
xref: NCI:C27535
is_a: DOID:2513 ! basal cell carcinoma
is_a: DOID:8858 ! tonsil cancer
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4295
name: follicular basal cell carcinoma
def: "A basal cell carcinoma that is characterized by follicular differentiation. (DO)" [https://link.springer.com/chapter/10.1007/978-3-319-45704-8_57 "DO"]
synonym: "follicular (pilar) basal cell carcinoma" EXACT []
synonym: "Skin Follicular Basal Cell Carcinoma" EXACT []
xref: NCI:C27538
is_a: DOID:2513 ! basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4297
name: scimitar syndrome
alt_id: MIM:106700
def: "A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung. (DO)" [https://en.wikipedia.org/wiki/Scimitar_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/31536209 "DO"]
synonym: "anomalous pulmonary venous return" EXACT []
synonym: "APVR" EXACT []
synonym: "congenital venolobar syndrome" EXACT []
synonym: "Halasz syndrome" EXACT []
synonym: "hypogenetic lung syndrome" EXACT []
synonym: "mirror-image lung syndrome" EXACT []
synonym: "pulmonary venolobar syndrome" EXACT []
synonym: "Pulmonary Venous Return Anomaly" EXACT []
synonym: "Scimitar Anomaly" EXACT []
synonym: "TAPVR" EXACT []
synonym: "TAPVR1" EXACT []
synonym: "Total Anomalous Pulmonary Venous Return" EXACT []
synonym: "total anomalous pulmonary venous return 1" EXACT []
synonym: "vena cava bronchovascular syndrome" EXACT []
xref: EFO:1001167
xref: ICD10CM:Q26.2
xref: ICD10CM:Q26.8
xref: MESH:D012587
xref: NCI:C85056
xref: NCI:C98585
xref: ORDO:185
xref: ORDO:99125
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:178 ! vascular disease
is_a: DOID:225 ! syndrome
is_a: DOID:850 ! lung disease
is_a: DOID:9003191 ! Vascular Malformations
is_a: DOID:9007870 ! Respiratory System Abnormalities

[Term]
id: DOID:4299
name: infiltrative basal cell carcinoma
def: "A basal cell carcinoma that is characterized by the formation of thin, small clusters in an infiltrative growth pattern. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30710602/ "DO"]
synonym: "skin infiltrating basal cell carcinoma" EXACT []
is_a: DOID:2513 ! basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4300
name: superficial basal cell carcinoma
synonym: "multicentric basal cell carcinoma" EXACT []
synonym: "Multifocal superficial basal cell carcinoma" EXACT [SNOMEDCT_2005_07_31:61098004]
synonym: "Multifocal superficial basal cell carcinoma (morphologic abnormality)" EXACT []
synonym: "Superficial multicentric basal-cell carcinoma" EXACT []
xref: ICDO:8091/3
xref: NCI:C4108
xref: RDO:9003275
is_a: DOID:2513 ! basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4301
name: vulva basal cell carcinoma
def: "A vulva carcinoma that has_material_basis_in basal cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22935972 "DO"]
synonym: "basal cell carcinoma of the vulva" RELATED []
synonym: "basal cell carcinoma of vulva" EXACT []
xref: NCI:C6381
is_a: DOID:1294 ! vulva carcinoma
is_a: DOID:2513 ! basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4302
name: cystic basal cell carcinoma
def: "A nodular basal cell carcinoma that is characterized by a homogenous blue/black area. (DO)" [https://www.hindawi.com/journals/jsc/2011/450472/ "DO"]
synonym: "skin cystic basal cell carcinoma" EXACT []
is_a: DOID:4280 ! nodular basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4303
name: sarcomatoid basal cell carcinoma
synonym: "skin sarcomatoid basal cell carcinoma" EXACT []
xref: NCI:C38111
xref: RDO:9003278
is_a: DOID:2513 ! basal cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4304
name: signet ring basal cell carcinoma
synonym: "skin signet ring cell basal cell carcinoma" EXACT []
xref: NCI:C38110
xref: RDO:9003279
is_a: DOID:2513 ! basal cell carcinoma
is_a: DOID:3493 ! signet ring cell adenocarcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4305
name: bone giant cell tumor
def: "A benign giant cell tumor that results_in the presence of multinucleated giant cells. (DO)" [http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone "DO"]
synonym: "bone giant cell tumour" EXACT []
synonym: "giant cell myeloma" RELATED []
synonym: "giant cell neoplasm of bone" EXACT []
synonym: "giant cell tumor of bone" EXACT []
synonym: "giant cell tumour of bone" EXACT []
synonym: "osteoclastoma" RELATED []
xref: EFO:0007176
xref: MESH:D018212
xref: NCI:C121932
is_a: DOID:200 ! benign giant cell tumor
is_a: DOID:9007603 ! Bone Tissue Neoplasms

[Term]
id: DOID:4306
name: radiculopathy
def: "A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling. (DO)" [https://en.wikipedia.org/wiki/Radiculopathy "DO", https://www.hopkinsmedicine.org/health/conditions-and-diseases/radiculopathy "DO"]
synonym: "cervical radiculopathies" EXACT []
synonym: "Cervical Radiculopathy" EXACT []
synonym: "Nerve Root Avulsion" EXACT []
synonym: "nerve root avulsions" EXACT []
synonym: "Nerve Root Compression" EXACT []
synonym: "Nerve Root Compressions" EXACT []
synonym: "Nerve Root Disorder" EXACT []
synonym: "Nerve Root Disorders" EXACT []
synonym: "Nerve Root Inflammation" EXACT []
synonym: "Nerve Root Inflammations" EXACT []
synonym: "pinched nerve" EXACT []
synonym: "Radiculitides" EXACT []
synonym: "radiculitis" EXACT []
synonym: "radiculopathies" EXACT []
xref: ICD10CM:M54.1
xref: MESH:D011843
is_a: DOID:574 ! peripheral nervous system disease

[Term]
id: DOID:4307
name: polyradiculopathy
def: "A radiculopathy that is present in more than one nerve. (DO)" [https://en.wikipedia.org/wiki/Radiculopathy "DO"]
synonym: "abdominal polyradiculopathies" EXACT []
synonym: "abdominal polyradiculopathy" EXACT []
synonym: "polyradiculitides" EXACT []
synonym: "polyradiculitis" EXACT []
synonym: "polyradiculopathies" EXACT []
xref: MESH:D011128
xref: MONDO:0002960
xref: NCI:C34934
is_a: DOID:4306 ! radiculopathy

[Term]
id: DOID:4308
name: polyradiculoneuropathy
def: "A peripheral nervous system disease that is characterized by the co-occurance of polyneuropahty and polyradicuopathy and is located in both the spinal nerve roots and the peripheral nerves. (DO)" [https://en.wikipedia.org/wiki/Polyradiculoneuropathy "DO"]
synonym: "peripheral autoimmune demyelinating disease" EXACT []
synonym: "polyradiculoneuritides" EXACT []
synonym: "polyradiculoneuritis" EXACT []
synonym: "polyradiculoneuropathies" EXACT []
xref: EFO:1001116
xref: MESH:D011129
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:3213 ! demyelinating disease
is_a: DOID:438 ! autoimmune disease of the nervous system

[Term]
id: DOID:431
name: myofascial pain syndrome
def: "Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." [MESH:D009209]
synonym: "myofascial pain syndromes" EXACT []
synonym: "Myofascial Trigger Point Pain" EXACT []
xref: EFO:1001054
xref: MESH:D009209
is_a: DOID:0080000 ! muscular disease
is_a: DOID:225 ! syndrome
is_a: DOID:423 ! myopathy

[Term]
id: DOID:4310
name: smooth muscle tumor
def: "A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." [MESH:D018235]
synonym: "Smooth Muscle Tumors" EXACT []
xref: EFO:1001185
xref: MESH:D018235
xref: NCI:C3751
is_a: DOID:461 ! muscle benign neoplasm

[Term]
id: DOID:4313
name: epidermolysis bullosa acquisita
def: "An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen. (DO)" [https://www.nejm.org/doi/full/10.1056/NEJMicm1204895 "DO"]
synonym: "acquired epidermolysis bullosa" EXACT []
synonym: "acquired form of epidermolysis bullosa" EXACT []
xref: EFO:1000691
xref: ICD10CM:L12.3
xref: MESH:D016107
xref: NCI:C84690
is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue
is_a: DOID:2730 ! epidermolysis bullosa

[Term]
id: DOID:4320
name: non-gestational choriocarcinoma
def: "A choriocarcicoma that develops in the absence of a preceding gestational event. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467297/ "DO"]
synonym: "non-gestational choriocarcinomas" EXACT []
xref: EFO:1001064
xref: MESH:D031954
xref: MONDO:0006871
is_a: DOID:3594 ! choriocarcinoma

[Term]
id: DOID:4321
name: large cell acanthoma
xref: ICDO:8072/0
xref: NCI:C27518
is_a: DOID:174 ! acanthoma

[Term]
id: DOID:4322
name: pilar sheath acanthoma
synonym: "pilar sheath acanthomas" EXACT []
xref: EFO:1001107
xref: ICDO:8104/0
xref: NCI:C4468
is_a: DOID:174 ! acanthoma

[Term]
id: DOID:4323
name: epidermolytic acanthoma
xref: NCI:C27516
is_a: DOID:174 ! acanthoma

[Term]
id: DOID:4324
name: acantholytic acanthoma
xref: NCI:C27517
is_a: DOID:174 ! acanthoma

[Term]
id: DOID:4325
name: Ebola hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. (DO)" [http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/ebola/qa.htm "DO"]
synonym: "Ebola Infection" EXACT []
synonym: "Ebola Virus Disease" EXACT []
synonym: "Ebola Virus Infection" EXACT []
xref: EFO:0007243
xref: GARD:2035
xref: ICD10CM:A98.4
xref: MESH:D019142
xref: NCI:C36171
is_a: DOID:9006715 ! Filoviridae Infections
is_a: DOID:9007401 ! Viral Hemorrhagic Fevers

[Term]
id: DOID:4327
name: Marburg hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthomarburgvirus marburgense, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. (DO)" [http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/marburg/qa.htm "DO"]
synonym: "Marburg disease" EXACT []
synonym: "Marburg virus disease" EXACT []
xref: EFO:0007358
xref: GARD:9444
xref: ICD10CM:A98.3
xref: MESH:D008379
xref: NCI:C84883
is_a: DOID:9001284 ! Monkey Diseases
is_a: DOID:9006715 ! Filoviridae Infections
is_a: DOID:9007401 ! Viral Hemorrhagic Fevers

[Term]
id: DOID:4329
name: Erdheim-Chester disease
def: "A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. (DO)" [https://medlineplus.gov/genetics/condition/erdheim-chester-disease/ "DO", https://rarediseases.org/rare-diseases/erdheim-chester-disease/ "DO", MESH:D031249]
synonym: "Lipid Granulomatosis" EXACT []
xref: EFO:1000926
xref: GARD:6369
xref: MESH:D031249
xref: NCI:C53972
is_a: DOID:4330 ! non-Langerhans-cell histiocytosis

[Term]
id: DOID:4330
name: non-Langerhans-cell histiocytosis
def: "A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15547923/ "DO", MESH:D015616]
synonym: "Xanthoma Disseminatum" EXACT []
xref: GARD:8231
xref: MESH:D015616
is_a: DOID:3405 ! histiocytosis

[Term]
id: DOID:4331
name: burning mouth syndrome
def: "A mouth disease that is characterized by long-lasting burning sensations of the mouth. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30189984/ "DO"]
synonym: "Burning Mouth Syndromes" EXACT []
synonym: "Orodynia" EXACT []
synonym: "Stomatopyrosis" EXACT []
xref: EFO:1000850
xref: GARD:5974
xref: MESH:D002054
xref: NCI:C62545
is_a: DOID:225 ! syndrome
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:4333
name: parovarian cyst
def: "A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary. (DO)" [https://en.wikipedia.org/wiki/Paraovarian_cyst "DO"]
synonym: "embryonic fimbrial cyst" EXACT []
synonym: "fimbrial cyst" EXACT []
synonym: "Hydatid Cyst of Morgagni" EXACT []
synonym: "Hydatid of Morgagni" EXACT []
synonym: "Morgagni Hydatid" EXACT []
synonym: "Morgagni Hydatid Cyst" EXACT []
synonym: "Morgagni Hydatid Cysts" EXACT []
synonym: "Morgagni Hydatids" EXACT []
synonym: "Paratubal Cyst" EXACT []
synonym: "Paratubal Cysts" EXACT []
synonym: "Parovarian Cysts" EXACT []
xref: ICD10CM:Q50.4
xref: ICD10CM:Q50.5
xref: MESH:D010310
is_a: DOID:229 ! female reproductive system disease
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:4334
name: splenic manifestation of prolymphocytic leukemia
xref: NCI:C7297
is_a: DOID:1039 ! prolymphocytic leukemia
is_a: DOID:710 ! splenic manifestation of leukemia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:4336
name: tinea favosa
def: "A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885931/ "DO"]
synonym: "favus" EXACT []
xref: EFO:0007511
xref: MESH:D014007
xref: NCI:C35072
is_a: DOID:4123 ! nail disease
is_a: DOID:4337 ! tinea capitis

[Term]
id: DOID:4337
name: tinea capitis
def: "A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000878.htm "DO", https://drfungus.org/knowledge-base/tinea-capitis/ "DO"]
synonym: "dermatophytosis of scalp" RELATED []
synonym: "dermatophytosis of scalp or beard" EXACT []
synonym: "Kerion Celsi" EXACT []
synonym: "scalp ringworm" EXACT []
synonym: "tinea capitis due to Trichophyton rubrum" EXACT []
synonym: "tinea capitis profunda" EXACT []
synonym: "Trichophytia Profunda Barbae" EXACT []
synonym: "Trichophytia Profunda Capitides" EXACT []
synonym: "trichophytia profunda capitis" EXACT []
synonym: "trichophyton rubrum tinea capitis" EXACT []
xref: ICD9CM:110.0
xref: MESH:D014006
xref: NCI:C34536
is_a: DOID:3136 ! scalp dermatosis
is_a: DOID:421 ! hair disease
is_a: DOID:8913 ! dermatophytosis

[Term]
id: DOID:4346
name: variegate porphyria
alt_id: MIM:176200
def: "An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen." [MESH:D046350]
synonym: "homozygous variegate porphyria" EXACT []
synonym: "porphyria, South African type" EXACT []
synonym: "porphyria variegata" EXACT []
synonym: "Ppox Deficiency" EXACT []
synonym: "protocoproporphyria" EXACT []
synonym: "protoporphyrinogen oxidase deficiencies" EXACT []
synonym: "protoporphyrinogen oxidase deficiency" EXACT []
synonym: "VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT" NARROW []
synonym: "VP" EXACT []
xref: GARD:7848
xref: MESH:D046350
xref: NCI:C85219
is_a: DOID:3133 ! acute porphyria
is_a: DOID:9005584 ! Hepatic Porphyrias

[Term]
id: DOID:4347
name: lymphocele
def: "Cystic mass containing lymph from diseased lymphatic channels or following surgical trauma or other injury." [MESH:D008210]
synonym: "Lymphatic Cyst" EXACT []
synonym: "lymphatic cysts" EXACT []
synonym: "lymph cyst" EXACT []
synonym: "Lymphoceles" EXACT []
synonym: "Lymphocoele" EXACT []
synonym: "lymphocoeles" EXACT []
xref: MESH:D008210
xref: MONDO:0002968
xref: NCI:C78442
is_a: DOID:75 ! lymphatic system disease
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:4352
name: ciliary body cancer
synonym: "malignant neoplasm of ciliary body" EXACT []
synonym: "malignant tumor of ciliary body" EXACT []
synonym: "malignant tumor of the Ciliary body" EXACT [NCI2004_11_17:C4766]
synonym: "neoplasm of ciliary body" EXACT [SNOMEDCT_2005_07_31:126998003]
synonym: "tumor of the Ciliary body" EXACT [NCI2004_11_17:C4364]
xref: ICD10CM:C69.4
xref: NCI:C4364
xref: NCI:C4766
is_a: DOID:3478 ! iris cancer
is_a: DOID:4353 ! ciliary body disease

[Term]
id: DOID:4353
name: ciliary body disease
def: "An iris disease that is located_in the ciliary body. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35695216/ "DO"]
xref: NCI:C35775
is_a: DOID:240 ! iris disease

[Term]
id: DOID:4359
name: amelanotic melanoma
def: "An unpigmented malignant melanoma. It is an anaplastic melanoma consisting of cells derived from melanoblasts but not forming melanin. (Dorland, 27th ed; Stedman, 25th ed)" [MESH:D018328]
synonym: "amelanotic melanomas" EXACT []
xref: EFO:1001937
xref: ICDO:8730/3
xref: MESH:D018328
xref: NCI:C3802
is_a: DOID:1909 ! melanoma

[Term]
id: DOID:436
name: posterior mediastinum cancer
xref: ICD10CM:C38.2
xref: ICD9CM:164.3
xref: RDO:9005080
is_a: DOID:5559 ! mediastinal cancer
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:4360
name: epithelioid cell melanoma
synonym: "epithelioid cell melanoma (morphologic abnormality)" EXACT []
synonym: "epithelioid melanoma" EXACT []
xref: ICDO:8771/3
xref: NCI:C4236
xref: RDO:9001852
is_a: DOID:1909 ! melanoma
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:4362
name: cervical cancer
def: "A female reproductive organ cancer that is located_in the cervix. (DO)" [http://cancergenome.nih.gov/cancersselected/cervicalcancer "DO", http://en.wikipedia.org/wiki/Cervical_cancer "DO", http://www.cancer.gov/dictionary?CdrID=444973 "DO"]
synonym: "cancer of cervix" EXACT []
synonym: "cancer of the cervix" EXACT []
synonym: "cancer of the uterine cervix" EXACT []
synonym: "cervix cancer" EXACT []
synonym: "cervix cancers" EXACT []
synonym: "cervix uteri cancer" EXACT []
synonym: "uterine cervical cancer" EXACT []
synonym: "uterine cervical cancers" EXACT []
xref: ICD10CM:C53
xref: ICD9CM:180
xref: MONDO:0002974
xref: NCI:C2940
xref: NCI:C9311
is_a: DOID:363 ! uterine cancer
is_a: DOID:9003373 ! Uterine Cervical Neoplasms
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:4364
name: malignant breast melanoma
def: "A breast cancer that arises_from melanocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15845569 "DO"]
synonym: "breast melanoma" EXACT []
synonym: "malignant melanoma of breast" EXACT []
xref: NCI:C8410
is_a: DOID:1612 ! breast cancer
is_a: DOID:1909 ! melanoma
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:4367
name: apparent mineralocorticoid excess syndrome
alt_id: DOID:0090121
alt_id: MIM:218030
def: "A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. (DO)" [https://www.omim.org/entry/218030 "DO"]
synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 2" EXACT []
synonym: "AME" EXACT []
synonym: "AME1" EXACT []
synonym: "apparent mineralocorticoid excess" EXACT []
synonym: "apparent mineralocorticoid excess, mild" NARROW []
synonym: "cortisol 11-beta-ketoreductase deficiency" EXACT []
synonym: "syndrome of apparent mineralocorticoid excess" EXACT []
synonym: "Ulick syndrome" EXACT []
xref: EFO:1000817
xref: GARD:433
xref: MESH:D043204
xref: NCI:C123231
xref: ORDO:320
is_a: DOID:1701 ! steroid inherited metabolic disorder
is_a: DOID:225 ! syndrome
is_a: DOID:3947 ! adrenal gland hyperfunction

[Term]
id: DOID:437
name: myasthenia gravis
alt_id: MIM:254200
def: "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath. (DO)" [https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Myasthenia-Gravis-Fact-Sheet "DO"]
synonym: "generalized myasthenia gravis" EXACT []
synonym: "late-onset myasthenia gravis" NARROW []
synonym: "ocular myasthenia gravis" NARROW []
synonym: "REFRACTORY MYASTHENIA GRAVIS" NARROW []
xref: EFO:0004991
xref: EFO:1001490
xref: GARD:7122
xref: ICD10CM:G70.0
xref: ICD10CM:G70.00
xref: ICD9CM:358.0
xref: ICD9CM:358.00
xref: MESH:D009157
xref: NCI:C60989
is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system
is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system
is_a: DOID:439 ! neuromuscular junction disease

[Term]
id: DOID:4370
name: stomach diverticulosis
def: "A pathological condition characterized by the presence of a number of GASTRIC DIVERTICULA in the STOMACH." [MESH:D045724]
synonym: "gastric diverticulosis" EXACT []
xref: MESH:D045724
is_a: DOID:76 ! stomach disease

[Term]
id: DOID:4371
name: Schnitzler syndrome
def: "A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy. (DO)" [https://rarediseases.org/rare-diseases/schnitzler-syndrome/ "DO", https://www.nomidalliance.org/schnitzler.php "DO"]
xref: EFO:1001165
xref: GARD:12390
xref: MESH:D019873
is_a: DOID:2916 ! hypersensitivity reaction type IV disease
is_a: DOID:7442 ! monoclonal gammopathy of uncertain significance

[Term]
id: DOID:4372
name: intracranial embolism
def: "Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." [MESH:D020766]
synonym: "Brain Emboli" EXACT []
synonym: "Brain Embolism" EXACT []
synonym: "Brain Embolus" EXACT []
synonym: "Cerebral Emboli" EXACT []
synonym: "Cerebral Embolism" EXACT []
synonym: "Cerebral embolism with cerebral infarction" EXACT []
synonym: "Cerebral Embolus" EXACT []
xref: EFO:1000991
xref: ICD10CM:I66
xref: ICD9CM:434.1
xref: MESH:D020766
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9005741 ! Intracranial Embolism and Thrombosis

[Term]
id: DOID:4374
name: Silo filler's disease
def: "A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30879430/ "DO", https://wiki.idph.iowa.gov/epimanual/Home/CategoryID/149 "DO"]
synonym: "silo filler disease" EXACT []
synonym: "silo fillers disease" EXACT []
xref: EFO:1001182
xref: MESH:D012832
xref: MONDO:0006972
is_a: DOID:841 ! extrinsic allergic alveolitis
is_a: DOID:9006538 ! Agricultural Workers' Diseases

[Term]
id: DOID:4376
name: milk allergy
def: "A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. (DO)" [http://en.wikipedia.org/wiki/Milk_hypersensitivity "DO"]
synonym: "milk allergic reaction" EXACT []
synonym: "milk allergies" EXACT []
synonym: "Milk Hypersensitivities" EXACT []
synonym: "milk hypersensitivity" EXACT []
xref: EFO:0007369
xref: MESH:D016269
is_a: DOID:3044 ! food allergy

[Term]
id: DOID:4377
name: egg allergy
def: "A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. (DO)" [http://en.wikipedia.org/wiki/Allergy#Foods "DO"]
synonym: "allergy to eggs" EXACT []
synonym: "egg allergies" EXACT []
synonym: "egg hypersensitivities" EXACT []
synonym: "egg hypersensitivity" EXACT []
xref: EFO:0007248
xref: MESH:D021181
xref: NCI:C172313
is_a: DOID:3044 ! food allergy

[Term]
id: DOID:4378
name: peanut allergy
def: "A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms. (DO)" [http://en.wikipedia.org/wiki/Allergy#Foods "DO"]
synonym: "allergy to peanuts" EXACT []
synonym: "groundnut hypersensitivity" EXACT []
synonym: "peanut allergic reaction" EXACT []
synonym: "peanut allergies" EXACT []
synonym: "peanut hypersensitivity" EXACT []
xref: EFO:0007425
xref: MESH:D021183
is_a: DOID:0060904 ! legume allergy

[Term]
id: DOID:4379
name: nut allergy
def: "A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis. (DO)" [https://en.wikipedia.org/wiki/Tree_nut_allergy "DO"]
synonym: "allergy to nuts" EXACT []
synonym: "nut allergic reaction" EXACT []
synonym: "nut allergies" EXACT []
synonym: "Nut Hypersensitivities" EXACT []
synonym: "Nut Hypersensitivity" EXACT []
synonym: "Tree Nut Allergies" EXACT []
synonym: "tree nut allergy" EXACT []
synonym: "tree nut hypersensitivities" EXACT []
synonym: "tree nut hypersensitivity" EXACT []
xref: EFO:1001066
xref: MESH:D021184
xref: NCI:C175521
is_a: DOID:3044 ! food allergy

[Term]
id: DOID:438
name: autoimmune disease of the nervous system
def: "An autoimmune disease affecting the nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1003353/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/21619947 "DO"]
synonym: "autoimmune disorders of the nervous system" EXACT []
synonym: "autoimmune nervous system diseases" EXACT []
synonym: "autoimmune nervous system disorder" EXACT []
synonym: "nervous system autoimmune disorders" EXACT []
synonym: "Nervous System Immune Diseases" EXACT []
synonym: "nervous system immune disorders" EXACT []
synonym: "neurologic autoimmune disease" EXACT []
synonym: "neurologic autoimmune diseases" EXACT []
xref: MESH:D020274
xref: NCI:C99383
is_a: DOID:417 ! autoimmune disease
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:4384
name: orbit alveolar rhabdomyosarcoma
def: "An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31146616/ "DO"]
synonym: "alveolar rhabdomyosarcoma of the orbit" EXACT []
xref: NCI:C6247
is_a: DOID:3259 ! orbit rhabdomyosarcoma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4385
name: papillary squamous carcinoma
def: "A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation. (DO)" [http://www.sciencedirect.com/science/article/pii/S0090825803003299 "DO"]
synonym: "papillary epidermoid carcinoma" EXACT []
xref: NCI:C4102
xref: RDO:9002371
is_a: DOID:1749 ! squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:4386
name: myofibroma
def: "A benign tumor that consists chiefly of fibrous CONNECTIVE TISSUE, with variable numbers of MUSCLE CELLS forming portions of the neoplasm (From Stedman's, 27th ed)." [MESH:D047708]
synonym: "lipoleiomyoma" EXACT []
synonym: "myofibromas" EXACT []
xref: EFO:1000389
xref: ICDO:8824/0
xref: MESH:D047708
xref: NCI:C7052
is_a: DOID:0060123 ! connective tissue benign neoplasm

[Term]
id: DOID:4388
name: bone peripheral neuroepithelioma
synonym: "osseous peripheral neuroepithelioma" EXACT []
xref: NCI:C8776
xref: RDO:9003423
is_a: DOID:3368 ! Ewing sarcoma of bone
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:4389
name: soft tissue peripheral neuroepithelioma
synonym: "peripheral neuroectodermal tumor of soft tissues" EXACT []
xref: NCI:C27471
is_a: DOID:4232 ! extraosseous Ewing sarcoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:439
name: neuromuscular junction disease
def: "A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. (DO)" [http://en.wikipedia.org/wiki/Neuromuscular_junction_disease "DO"]
synonym: "neuromuscular junction diseases" EXACT []
synonym: "Neuromuscular Junction Disorder" EXACT []
synonym: "neuromuscular junction disorders" EXACT []
synonym: "Neuromuscular Junction Toxic Disorders" EXACT []
synonym: "Neuromuscular Transmission Disorder" EXACT []
synonym: "neuromuscular transmission disorders" EXACT []
xref: MESH:D020511
is_a: DOID:440 ! neuromuscular disease

[Term]
id: DOID:4394
name: reticulohistiocytic granuloma
synonym: "reticulohistiocytoma" EXACT []
synonym: "reticulohistiocytomas" EXACT []
synonym: "solitary reticulohistiocytoma" EXACT []
xref: GARD:12967
xref: NCI:C3356
is_a: DOID:4330 ! non-Langerhans-cell histiocytosis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:4397
name: granulomatous dermatitis
xref: EFO:1000705
xref: NCI:C3505
xref: RDO:9004258
is_a: DOID:2723 ! dermatitis
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4398
name: pustulosis of palm and sole
synonym: "acropustulosis" EXACT []
synonym: "palmoplantar pustulosis" EXACT []
synonym: "pustular psoriasis of the palms and/or soles" EXACT []
xref: ICD10CM:L40.3
xref: NCI:C34888
is_a: DOID:2723 ! dermatitis
is_a: DOID:8893 ! psoriasis
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:4399
name: acneiform dermatitis
xref: EFO:1000662
xref: NCI:C35277
is_a: DOID:2723 ! dermatitis
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:440
name: neuromuscular disease
def: "A neuropathy that affect the nerves that control the voluntary muscles. (DO)" [http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html "DO"]
synonym: "Amyotonia Congenita" NARROW []
synonym: "Benign Fasciculation-Cramp Syndrome" NARROW []
synonym: "Benign Fasciculation-Cramp Syndromes" NARROW []
synonym: "Cramp Fasciculation Syndrome" NARROW []
synonym: "Cramp-Fasciculation Syndromes" NARROW []
synonym: "Foley Denny Brown Syndrome" NARROW []
synonym: "neuromuscular diseases" EXACT []
synonym: "NEUROMUSCULAR DISORDER" EXACT []
synonym: "Oppenheim's Disease" NARROW []
synonym: "Oppenheim Disease" NARROW []
synonym: "Oppenheims Disease" NARROW []
xref: EFO:1001902
xref: ICD10CM:G70.9
xref: ICD9CM:358
xref: MESH:D009468
xref: NCI:C189005
is_a: DOID:17 ! musculoskeletal system disease
is_a: DOID:870 ! neuropathy

[Term]
id: DOID:4400
name: dermatosis papulosa nigra
alt_id: MIM:125600
xref: EFO:1000686
xref: ICD10CM:L82
xref: MESH:C562379
xref: NCI:C2984
is_a: DOID:2723 ! dermatitis
is_a: DOID:9008246 ! Papulosquamous Skin Diseases

[Term]
id: DOID:4404
name: occupational dermatitis
def: "A recurrent contact dermatitis caused by substances found in the work place." [MESH:D009783]
synonym: "industrial dermatoses" EXACT []
synonym: "industrial dermatosis" EXACT []
synonym: "occupational allergic contact dermatitis" EXACT []
synonym: "occupational dermatitides" EXACT []
synonym: "occupational eczema" EXACT []
xref: EFO:1000744
xref: MESH:D009783
xref: NCI:C34859
is_a: DOID:2773 ! contact dermatitis
is_a: DOID:9005463 ! Occupational Diseases

[Term]
id: DOID:4406
name: spongiotic dermatitis
xref: EFO:1000768
xref: NCI:C27037
is_a: DOID:2723 ! dermatitis
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4407
name: phototoxic dermatitis
def: "An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. (DO)" [https://dermnetnz.org/cme/dermatitis/photosensitivity-dermatitis "DO"]
synonym: "photosensitisation reaction" EXACT []
synonym: "photosensitive dermatitis" EXACT []
synonym: "photosensitiveness" EXACT []
synonym: "phototoxic contact dermatitides" EXACT []
synonym: "phototoxic contact dermatitis" EXACT []
synonym: "phototoxic dermatitides" EXACT []
synonym: "phototoxicity" EXACT []
xref: EFO:1000753
xref: MESH:D017484
xref: NCI:C4816
is_a: DOID:2772 ! irritant dermatitis
is_a: DOID:3159 ! photosensitivity disease

[Term]
id: DOID:4409
name: folliculitis
def: "Inflammation of follicles, primarily hair follicles." [MESH:D005499]
synonym: "Folliculitides" EXACT []
synonym: "Sycoses" EXACT []
synonym: "Sycosis" EXACT []
xref: EFO:1000702
xref: MESH:D005499
xref: NCI:C94408
is_a: DOID:2723 ! dermatitis
is_a: DOID:421 ! hair disease

[Term]
id: DOID:4411
name: hepatitis E
def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice. (DO)" [http://www.cdc.gov/hepatitis/HEV/HEVfaq.htm#section1 "DO"]
synonym: "enterically transmitted non A, non B hepatitis" EXACT []
synonym: "Epidemic Non A, Non B Hepatitis" EXACT []
synonym: "ET-NANBH" EXACT []
synonym: "Hepatitis, Viral, Non-A, Non-B, Enterically-Transmitted" EXACT []
synonym: "water-borne hepatitis" EXACT []
xref: EFO:0007303
xref: GARD:9541
xref: MESH:D016751
xref: MONDO:0005788
is_a: DOID:9002150 ! RNA Virus Infections
is_a: DOID:9007329 ! Human Viral Hepatitis

[Term]
id: DOID:4413
name: cervix melanoma
def: "A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25046205 "DO"]
xref: NCI:C40239
is_a: DOID:1909 ! melanoma
is_a: DOID:4362 ! cervical cancer
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:4415
name: fibrous histiocytoma
def: "A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)" [MESH:D018219]
synonym: "Benign Fibrous Histiocytomas" EXACT []
synonym: "Cutaneous Histiocytoma" EXACT []
synonym: "Cutaneous Histiocytomas" EXACT []
synonym: "Dermatofibroma" EXACT []
synonym: "Dermatofibromas" EXACT []
synonym: "Fibrous Histiocytomas" EXACT []
synonym: "fibroxanthoma" EXACT []
synonym: "Histiocytoma, Benign Fibrous" EXACT []
xref: MESH:D018219
xref: NCI:C3739
is_a: DOID:4231 ! histiocytoma

[Term]
id: DOID:4418
name: cutaneous fibrous histiocytoma
synonym: "benign cutaneous fibrous histiocytoma" EXACT []
synonym: "dermatofibroma" EXACT []
synonym: "fibrohistiocytic tumor" EXACT []
synonym: "fibrous histiocytoma of skin" EXACT []
synonym: "fibrous xanthoma of skin" EXACT []
synonym: "pleomorphic fibroma" EXACT []
synonym: "sclerosing angioma" EXACT []
synonym: "sclerosing angioma of skin" EXACT []
xref: EFO:1000885
xref: GARD:9807
xref: NCI:C6801
xref: NCI:C7749
xref: NCI:C8402
is_a: DOID:3165 ! skin benign neoplasm
is_a: DOID:4415 ! fibrous histiocytoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:4419
name: benign deep fibrous histiocytoma
xref: NCI:C6492
is_a: DOID:0060092 ! immune system organ benign neoplasm
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:4422
name: malignant adenofibroma
xref: NCI:C40035
xref: RDO:9003283
is_a: DOID:4236 ! carcinosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4423
name: sea-blue histiocytosis
alt_id: MIM:269600
def: "A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids. (DO)" [https://en.wikipedia.org/wiki/Sea-blue_histiocytosis "DO", https://rarediseases.info.nih.gov/diseases/8241/sea-blue-histiocytosis "DO"]
synonym: "APOE2 Isoforms" RELATED []
synonym: "sea-blue histiocyte disease" EXACT []
synonym: "sea-blue histiocyte diseases" EXACT []
synonym: "sea-blue histiocyte syndrome" EXACT []
synonym: "sea-blue histiocyte syndromes" EXACT []
synonym: "sea-blue histiocytoses" EXACT []
xref: EFO:1001170
xref: MESH:D012618
xref: NCI:C85062
xref: ORDO:158029
is_a: DOID:1927 ! sphingolipidosis
is_a: DOID:4330 ! non-Langerhans-cell histiocytosis
is_a: DOID:9003370 ! Dyslipidemias

[Term]
id: DOID:4424
name: juvenile xanthogranuloma
def: "A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk. (DO)" [https://www.nationwidechildrens.org/conditions/juvenile-xanthogranuloma "DO", https://www.ncbi.nlm.nih.gov/books/NBK526103/ "DO", MESH:D014972]
synonym: "juvenile xanthogranulomas" EXACT []
synonym: "Juvenile Xanthoma" EXACT []
synonym: "Juvenile Xanthomas" EXACT []
synonym: "multiple eruptive juvenile xanthogranuloma" EXACT []
synonym: "naevoxanthoendothelioma" EXACT []
synonym: "Nevoxanthoendothelioma" EXACT []
synonym: "Nevoxanthoendotheliomas" EXACT []
synonym: "xanthoma neviforme" EXACT []
xref: EFO:1000311
xref: ICDO:9749/1
xref: MESH:D014972
xref: NCI:C3451
is_a: DOID:37 ! skin disease
is_a: DOID:4330 ! non-Langerhans-cell histiocytosis

[Term]
id: DOID:4428
name: dyslexia
alt_id: MIM:127700
alt_id: MIM:300509
alt_id: MIM:600202
alt_id: MIM:604254
alt_id: MIM:606616
alt_id: MIM:606896
alt_id: MIM:608995
def: "A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. (DO)" [http://en.wikipedia.org/wiki/Dyslexia "DO"]
synonym: "Developmental Dyslexia" EXACT []
synonym: "developmental dyslexias" EXACT []
synonym: "developmental reading disabilities" EXACT []
synonym: "Developmental Reading Disability" EXACT []
synonym: "Developmental Reading Disorder" EXACT []
synonym: "developmental reading disorders" EXACT []
synonym: "DNAAF4-RELATED CONDITION" BROAD []
synonym: "dyslexias" EXACT []
synonym: "dyslexia, susceptibility to, 1" RELATED []
synonym: "dyslexia, susceptibility to, 2" RELATED []
synonym: "dyslexia, susceptibility to, 3" RELATED []
synonym: "dyslexia, susceptibility to, 4" RELATED []
synonym: "dyslexia, susceptibility to, 5" RELATED []
synonym: "dyslexia, susceptibility to, 6" RELATED []
synonym: "dyslexia, susceptibility to, 7" RELATED []
synonym: "dyslexia, susceptibility to, 8" RELATED []
synonym: "dyslexia, susceptibility to, 9" RELATED []
synonym: "DYX1" RELATED []
synonym: "DYX2" RELATED []
synonym: "DYX3" RELATED []
synonym: "DYX4" RELATED []
synonym: "DYX5" RELATED []
synonym: "DYX6" RELATED []
synonym: "DYX7" RELATED []
synonym: "DYX8" RELATED []
synonym: "DYX9" RELATED []
synonym: "specific reading disability, 1" NARROW []
synonym: "specific reading disability, 2" NARROW []
synonym: "word blindness" EXACT []
synonym: "word blindness, congenital" EXACT []
xref: EFO:0005424
xref: ICD10CM:F81.0
xref: MESH:D004410
xref: NCI:C96410
is_a: DOID:13365 ! reading disorder
is_a: DOID:93 ! language disorder

[Term]
id: DOID:4430
name: somatostatinoma
def: "A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS." [MESH:D013005]
synonym: "somatostatin cell neoplasm" EXACT []
synonym: "somatostatin cell tumour" EXACT []
synonym: "somatostatinomas" EXACT []
xref: EFO:1001187
xref: GARD:4900
xref: ICDO:8156/3
xref: MESH:D013005
xref: NCI:C3379
is_a: DOID:1798 ! pancreatic endocrine carcinoma
is_a: DOID:1800 ! neuroendocrine carcinoma

[Term]
id: DOID:4432
name: pancreatic somatostatinoma
synonym: "pancreatic delta cell somatostatin producing neoplasm" EXACT []
synonym: "pancreatic Somatostatin cell tumor" EXACT [NCI2004_11_17:C8006]
xref: EFO:1001964
xref: NCI:C8006
xref: NCI:C95595
xref: RDO:9004588
is_a: DOID:1799 ! islet cell tumor
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:4433
name: pancreatic delta cell neoplasm
synonym: "pancreatic delta cell tumor" EXACT []
xref: NCI:C28396
xref: RDO:9004589
is_a: DOID:1799 ! islet cell tumor
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:4434
name: small intestine neuroendocrine neoplasm
synonym: "grade 1 neuroendocrine neoplasm of jejunum" NARROW []
synonym: "jejunal NET G1" NARROW []
synonym: "Jejunal Neuroendocrine Tumor G1" NARROW []
synonym: "jejunum NET G1" NARROW []
synonym: "jejunum neuroendocrine neoplasm G1" NARROW []
synonym: "small intestine neuroendocrine tumor" EXACT []
xref: EFO:1000308
xref: EFO:1001928
xref: NCI:C5803
is_a: DOID:4119 ! intestinal neuroendocrine benign tumor
is_a: DOID:7505 ! small intestine benign neoplasm
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:4435
name: cavernous sinus meningioma
synonym: "meningioma of the cavernous sinus" EXACT []
xref: NCI:C5268
is_a: DOID:4437 ! skull base meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4436
name: anterior cranial fossa meningioma
synonym: "meningioma of the anterior fossa" EXACT []
xref: NCI:C5286
is_a: DOID:4437 ! skull base meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4437
name: skull base meningioma
synonym: "meningioma of the skull base" EXACT []
xref: NCI:C5272
is_a: DOID:3565 ! meningioma
is_a: DOID:3842 ! skull base cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4438
name: central nervous system germinoma
alt_id: RDO:9003538
synonym: "germinoma of CNS" EXACT []
xref: GARD:2005
xref: NCI:C7009
is_a: DOID:3304 ! germinoma
is_a: DOID:4439 ! central nervous system germ cell tumor

[Term]
id: DOID:4439
name: central nervous system germ cell tumor
def: "A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25233069 "DO"]
synonym: "central nervous system germ cell tumour" EXACT []
synonym: "germ cell tumor of the CNS" EXACT [NCI2004_11_17:C5461]
synonym: "germ cell tumour of the CNS" EXACT []
xref: NCI:C5461
xref: RDO:9003450
is_a: DOID:2994 ! germ cell cancer
is_a: DOID:3620 ! central nervous system cancer

[Term]
id: DOID:4440
name: seminoma
def: "A germinoma that has_material_basis_in cells that make sperm and eggs. (DO)" [http://www.cancer.gov/dictionary?CdrID=46577 "DO"]
synonym: "pure seminoma" EXACT []
synonym: "seminomas" EXACT []
xref: ICDO:9061/3
xref: MESH:D018239
is_a: DOID:2994 ! germ cell cancer
is_a: DOID:3304 ! germinoma

[Term]
id: DOID:4441
name: dysgerminoma
def: "A germ cell cancer that derives_from cells that give rise to egg cells. (DO)" [http://en.wikipedia.org/wiki/Dysgerminoma "DO", http://www.cancer.gov/dictionary?CdrID=672835 "DO"]
synonym: "disgerminoma" EXACT []
synonym: "disgerminomas" EXACT []
synonym: "dysgerminomas" EXACT []
xref: ICDO:9060/3
xref: MESH:D004407
xref: NCI:C2996
is_a: DOID:2394 ! ovarian cancer
is_a: DOID:3304 ! germinoma

[Term]
id: DOID:4442
name: cervical alveolar soft part sarcoma
def: "An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2479947 "DO"]
xref: MONDO:0003003
xref: NCI:C40225
is_a: DOID:4362 ! cervical cancer
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:4447
name: cystoid macular edema
alt_id: MIM:153880
synonym: "CYMD" EXACT []
synonym: "Cystoid Macular Dystrophy" EXACT []
synonym: "DCMD" EXACT []
synonym: "Macular Dystrophy, Dominant Cystoid" EXACT []
synonym: "MDDC" EXACT []
xref: NCI:C34794
xref: RDO:9004418
is_a: DOID:4449 ! macular retinal edema
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:4448
name: macular degeneration
def: "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. (DO)" [http://ghr.nlm.nih.gov/condition/age-related-macular-degeneration "DO", http://rarediseases.info.nih.gov/gard/10260/macular-degeneration/resources/1 "DO"]
synonym: "inherited macular dystrophy" NARROW []
synonym: "macular degeneration of retina" EXACT []
synonym: "macular degenerations" EXACT []
synonym: "macular dystrophies" EXACT []
synonym: "macular dystrophy" EXACT []
synonym: "MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION" EXACT []
synonym: "myopic macular degeneration" NARROW []
xref: EFO:0001365
xref: EFO:0009201
xref: EFO:0009606
xref: EFO:0020937
xref: MESH:D008268
xref: MIM:620762
xref: NCI:C123330
xref: ORDO:279
is_a: DOID:8466 ! retinal degeneration
is_a: DOID:9007801 ! Diseases of the Aged

[Term]
id: DOID:4449
name: macular retinal edema
alt_id: RDO:0006050
def: "Fluid accumulation in the outer layer of the MACULA LUTEA that results from intraocular or systemic insults. It may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. Although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, DIABETIC RETINOPATHY, and posterior segment inflammatory disease. (From Survey of Ophthalmology 2004; 49(5) 470-90)" [MESH:D008269]
synonym: "Central Retinal Edema, Cystoid" EXACT []
synonym: "Cystoid Macular Edema, Postoperative" NARROW []
synonym: "Irvine Gass Syndrome" EXACT []
synonym: "macular edema" EXACT []
synonym: "macular oedema" EXACT []
synonym: "macular retinal oedema" EXACT []
xref: MESH:D008269
xref: NCI:C35468
is_a: DOID:4448 ! macular degeneration
is_a: DOID:6929 ! retinal edema

[Term]
id: DOID:445
name: Bartter disease
def: "A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS." [MESH:D001477]
synonym: "aldosteronism with hyperplasia of the adrenal cortex" EXACT []
synonym: "ANTENATAL BARTTER SYNDROME" NARROW []
synonym: "Bartter's Disease" EXACT []
synonym: "Bartter's syndrome" EXACT []
synonym: "Bartters Disease" EXACT []
synonym: "Bartters syndrome" EXACT []
synonym: "Bartter syndrome" EXACT []
synonym: "juxtaglomerular hyperplasia with secondary aldosteronism" EXACT []
xref: GARD:5893
xref: ICD10CM:E26.81
xref: ICD9CM:255.13
xref: MESH:D001477
xref: MIM:PS601678
xref: NCI:C34412
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:225 ! syndrome
is_a: DOID:446 ! primary hyperaldosteronism
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:4450
name: renal cell carcinoma
alt_id: MIM:144700
def: "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney. (DO)" [http://en.wikipedia.org/wiki/Renal_cell_carcinoma "DO", http://www.cancer.gov/dictionary?CdrID=661352 "DO"]
synonym: "adenocarcinoma of kidney" EXACT []
synonym: "ADENOCARCINOMA OF KIDNEY NONPAPILLARY RENAL CARCINOMA 1 LOCUS" NARROW []
synonym: "chromophil renal cell carcinoma" EXACT []
synonym: "Grawitz tumor" EXACT []
synonym: "hypernephroid carcinoma" EXACT []
synonym: "hypernephroid carcinomas" EXACT []
synonym: "hypernephroma" EXACT []
synonym: "hypernephromas" EXACT []
synonym: "nephroid carcinoma" EXACT []
synonym: "nephroid carcinomas" EXACT []
synonym: "NRC1" NARROW []
synonym: "RCC" EXACT []
synonym: "renal adenocarcinoma" EXACT []
synonym: "renal cell adenocarcinoma" EXACT []
synonym: "renal cell adenocarcinomas" EXACT []
synonym: "renal cell cancer" EXACT []
synonym: "renal cell cancers" EXACT []
synonym: "renal cell carcinomas" EXACT []
synonym: "renal cell carcinoma, somatic" NARROW []
synonym: "renal cell carcinoma with paraneoplastic erythrocytosis" NARROW []
synonym: "Unclassified Renal Cell Carcinoma" NARROW []
xref: EFO:0000681
xref: EFO:0005708
xref: EFO:1000603
xref: GARD:13215
xref: ICDO:8312/3
xref: MESH:D002292
xref: NCI:C9385
xref: ORDO:217071
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4451 ! renal carcinoma

[Term]
id: DOID:4451
name: renal carcinoma
def: "A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). (DO)" [http://en.wikipedia.org/wiki/Renal_cell_carcinoma "DO"]
synonym: "carcinoma of kidney" EXACT []
synonym: "kidney carcinoma" EXACT []
xref: EFO:0002890
xref: NCI:C124802
xref: NCI:C9384
is_a: DOID:263 ! kidney cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:4454
name: childhood kidney cell carcinoma
synonym: "pediatric renal cell carcinoma" EXACT []
xref: ICD-O:M8312/3
xref: NCI:C6568
xref: RDO:9001906
is_a: DOID:4450 ! renal cell carcinoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:4455
name: hereditary renal cell carcinoma
synonym: "familial renal carcinoma" EXACT []
synonym: "familial renal cell carcinoma" EXACT []
xref: GARD:9571
xref: MESH:C536851
is_a: DOID:4450 ! renal cell carcinoma

[Term]
id: DOID:446
name: primary hyperaldosteronism
def: "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. (DO)" [https://en.wikipedia.org/wiki/Primary_aldosteronism "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34510 "DO"]
synonym: "aldosteronism" EXACT []
synonym: "Cushing's syndrome" EXACT []
synonym: "Cushing syndrome" EXACT []
synonym: "hyperaldosteronism" EXACT []
synonym: "primary aldosteronism" EXACT []
xref: EFO:0009452
xref: ICD10CM:E24
xref: ICD10CM:E26
xref: ICD9CM:255.0
xref: ICD9CM:255.1
xref: MESH:D006929
xref: MIM:PS103900
xref: MONDO:0001422
xref: NCI:C113213
xref: NCI:C2969
xref: ORDO:235936
is_a: DOID:3947 ! adrenal gland hyperfunction

[Term]
id: DOID:4463
name: multilocular clear cell renal cell carcinoma
synonym: "cystadenocarcinoma of kidney" EXACT []
synonym: "renal cystadenocarcinoma" EXACT []
xref: NCI:C4524
xref: ORDO:319287
is_a: DOID:4450 ! renal cell carcinoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:4464
name: collecting duct carcinoma
def: "A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material. (DO)" [https://en.wikipedia.org/wiki/Collecting_duct_carcinoma "DO", https://rarediseases.info.nih.gov/diseases/9573/collecting-duct-carcinoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/26684811 "DO"]
synonym: "Bellini duct carcinoma" EXACT []
synonym: "carcinoma of renal collecting duct" EXACT []
synonym: "collecting duct carcinoma (kidney)" EXACT []
synonym: "collecting duct carcinoma of the kidney" EXACT []
synonym: "collecting duct carcinomas" EXACT []
synonym: "renal carcinoma, collecting duct type" EXACT []
synonym: "renal Medullary carcinoma" EXACT []
xref: EFO:0003016
xref: EFO:1000314
xref: GARD:9573
xref: ICDO:8319/3
xref: NCI:C6194
xref: RDO:9001908
is_a: DOID:305 ! carcinoma
is_a: DOID:4450 ! renal cell carcinoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:4465
name: papillary renal cell carcinoma
def: "A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. (DO)" [http://cancergenome.nih.gov/cancersselected/kidneypapillary "DO", http://www.omim.org/entry/605074 "DO"]
synonym: "chromophil carcinoma of kidney" EXACT []
synonym: "papillary kidney carcinoma" EXACT []
synonym: "papillary renal cell carcinoma 1" EXACT []
synonym: "RCCP1" EXACT []
synonym: "sporadic papillary renal cell carcinoma" EXACT []
xref: EFO:0000640
xref: GARD:9572
xref: MIM:605074
xref: NCI:C27890
xref: NCI:C6975
is_a: DOID:3113 ! papillary carcinoma
is_a: DOID:4450 ! renal cell carcinoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:4467
name: clear cell renal cell carcinoma
def: "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. (DO)" [http://www.cancer.gov/dictionary?CdrID=45063 "DO", https://cancergenome.nih.gov/cancersselected/kidneyclearcell "DO"]
synonym: "ccRCC" EXACT []
synonym: "clear cell carcinoma of kidney" EXACT []
synonym: "clear cell kidney carcinoma" EXACT []
synonym: "clear-cell metastatic renal cell carcinoma" RELATED []
synonym: "clear cell RCC" EXACT []
synonym: "conventional (Clear cell) renal cell carcinoma" EXACT []
synonym: "conventional renal cell carcinoma" EXACT []
synonym: "cystic-multilocular variant" EXACT []
synonym: "renal clear cell carcinoma" EXACT []
xref: EFO:0000349
xref: EFO:0000376
xref: EFO:0000682
xref: GARD:9574
xref: MESH:C538445
xref: MONDO:0005005
xref: NCI:C4033
xref: ORDO:319276
is_a: DOID:4450 ! renal cell carcinoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:4468
name: clear cell adenocarcinoma
def: "An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/clear-cell-adenocarcinoma "DO"]
synonym: "clear cell adenocarcinomas" EXACT []
synonym: "malignant mesonephroma" EXACT []
synonym: "mesonephric adenocarcinoma" EXACT []
synonym: "mesonephroid clear cell carcinoma" EXACT []
synonym: "water-clear cell adenocarcinoma" EXACT []
synonym: "water-clear cell carcinoma" EXACT []
synonym: "Wolffian duct neoplasm" EXACT []
xref: EFO:0000348
xref: EFO:0006719
xref: ICDO:8310/3
xref: MESH:D018262
xref: NCI:C36815
xref: NCI:C3766
xref: NCI:C4072
xref: NCI:C4156
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:9006399 ! Mesonephroma

[Term]
id: DOID:447
name: renal tubular transport disease
def: "Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES." [MESH:D015499]
synonym: "inborn renal tubular transport disorder" EXACT []
synonym: "Kidney Tubular Transport, Inborn Error" EXACT []
synonym: "Kidney Tubular Transport, Inborn Errors" EXACT []
synonym: "Renal Tubular Transport Errors" EXACT []
synonym: "renal tubular transport, inborn error" EXACT []
synonym: "renal tubular transport, inborn errors" EXACT []
synonym: "renal tubule disease" EXACT []
xref: EFO:0009566
xref: EFO:1000647
xref: MESH:D015499
is_a: DOID:557 ! kidney disease
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:4471
name: chromophobe renal cell carcinoma
def: "A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells. (DO)" [http://www.cancer.org/acs/groups/cid/documents/webcontent/003107-pdf.pdf "DO", https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma "DO"]
synonym: "chromophobe adenocarcinoma" EXACT []
synonym: "Chromophobe carcinoma of kidney" EXACT []
synonym: "kidney chromophobe" EXACT []
synonym: "renal cell carcinoma, chromophobe cell" EXACT []
xref: EFO:0000335
xref: GARD:6064
xref: NCI:C4146
xref: RDO:9001911
is_a: DOID:4450 ! renal cell carcinoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:4472
name: mucinous tubular and spindle renal cell carcinoma
xref: NCI:C39807
xref: RDO:9001912
is_a: DOID:4450 ! renal cell carcinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:4473
name: sarcomatoid renal cell carcinoma
synonym: "renal cell carcinoma, spindle cell" EXACT []
xref: NCI:C27893
xref: RDO:9001913
is_a: DOID:4450 ! renal cell carcinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:4479
name: pseudohypoaldosteronism
def: "A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION." [MESH:D011546]
synonym: "familial hyperpotassemia and hypertension" EXACT []
synonym: "Familial Hypertensive Hyperkalemia" EXACT []
synonym: "Familial Hypertensive Hyperkalemias" EXACT []
synonym: "Pseudohypoaldosteronisms" EXACT []
synonym: "pseudohypoaldosteronism type 1" NARROW []
synonym: "pseudohypoaldosteronism type 2" NARROW []
synonym: "pseudohypoaldosteronism type I" NARROW []
synonym: "pseudohypoaldosteronism type II" NARROW []
xref: MESH:D011546
xref: MIM:PS145260
xref: MIM:PS177735
xref: NCI:C85034
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:4480
name: achondroplasia
def: "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone. (DO)" [http://en.wikipedia.org/wiki/Achondroplasia "DO", http://ghr.nlm.nih.gov/condition/achondroplasia "DO", http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm "DO", https://www.genome.gov/Genetic-Disorders/Achondroplasia "DO"]
synonym: "ACH" EXACT []
synonym: "achondroplasias" EXACT []
synonym: "achondroplastic physique" EXACT []
synonym: "chondrodystrophia" EXACT []
synonym: "osteosclerosis congenita" EXACT []
synonym: "skeleton-skin-brain syndrome" EXACT []
synonym: "skeleton-skin-brain syndromes" EXACT []
xref: EFO:0004121
xref: GARD:8173
xref: ICD10CM:Q77.4
xref: MESH:D000130
xref: MIM:100800
xref: MONDO:0007037
xref: NCI:C34345
xref: ORDO:15
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:4481
name: allergic rhinitis
alt_id: MIM:607154
def: "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. (DO)" [http://en.wikipedia.org/wiki/Allergic_rhinitis "DO", http://en.wikipedia.org/wiki/Rhinitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=allergic%20rhinitis "DO"]
synonym: "allergic rhinitides" EXACT []
synonym: "ALRH" EXACT []
synonym: "atopic rhinitis" EXACT []
synonym: "hay fever" NARROW []
synonym: "non-seasonal allergic rhinitis" EXACT []
synonym: "perenial allergic rhinitis" EXACT []
synonym: "pollenosis" EXACT []
xref: EFO:0005854
xref: MESH:D065631
xref: NCI:C34987
xref: NCI:C79532
is_a: DOID:0060496 ! respiratory allergy
is_a: DOID:4483 ! rhinitis

[Term]
id: DOID:4483
name: rhinitis
def: "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. (DO)" [http://en.wikipedia.org/wiki/Rhinitis "DO"]
synonym: "nasal catarrh" EXACT []
synonym: "rhinitides" EXACT []
synonym: "runny nose" EXACT []
xref: EFO:0008521
xref: MESH:D012220
xref: NCI:C34986
is_a: DOID:2163 ! nasal cavity disease
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:4486
name: malignant biphasic mesothelioma
synonym: "biphasic mesothelioma" EXACT []
synonym: "mixed mesothelioma" EXACT []
xref: EFO:1000124
xref: MONDO:0006109
xref: NCI:C4282
is_a: DOID:1790 ! malignant mesothelioma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:4488
name: sarcomatoid mesothelioma
synonym: "malignant fibrous mesothelioma" EXACT []
synonym: "spindled mesothelioma" EXACT []
xref: EFO:1000521
xref: NCI:C45655
is_a: DOID:1790 ! malignant mesothelioma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:4489
name: malignant epithelial mesothelioma
synonym: "malignant epithelioid mesothelioma" EXACT []
synonym: "Pleural Epithelioid Mesothelioma" NARROW []
xref: EFO:0006452
xref: EFO:1000351
xref: EFO:1000484
xref: NCI:C7985
is_a: DOID:1790 ! malignant mesothelioma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:4490
name: malignant peritoneal solitary fibrous tumor
def: "A peritoneum cancer that is characterized by the presence of prominent hemangiopericytoma-like vessels and that arises from the peritoneum. (DO)" [https://www.medscimonit.com/abstract/index/idArt/459077/act/3 "DO"]
synonym: "malignant peritoneal solitary fibrous tumour" EXACT []
synonym: "pleural and peritoneal solitary fibrous tumor" EXACT []
synonym: "pleural and peritoneal solitary fibrous tumour" EXACT []
is_a: DOID:1725 ! peritoneum cancer
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:4491
name: persian gulf syndrome
def: "A syndrome affecting returning military veterans and civilian workers of the Gulf War. (DO)" [http://en.wikipedia.org/wiki/Gulf_War_syndrome "DO"]
synonym: "gulf war syndrome" EXACT []
xref: EFO:0007430
xref: MESH:D018923
is_a: DOID:225 ! syndrome
is_a: DOID:9005463 ! Occupational Diseases

[Term]
id: DOID:4492
name: avian influenza
def: "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. (DO)" [http://www.cdc.gov/flu/avian/gen-info/avian-flu-humans.htm "DO", http://www.who.int/mediacentre/factsheets/avian_influenza/en/index.html "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=avian%20influenza "DO"]
synonym: "Avian Flu" EXACT []
synonym: "avian influenzas" EXACT []
synonym: "bird flu" EXACT []
synonym: "Fowl Plague" EXACT []
synonym: "influenza in bird" EXACT []
synonym: "influenza in birds" EXACT []
xref: EFO:0005222
xref: ICD10CM:J09.X
xref: MESH:D005585
is_a: DOID:8469 ! influenza
is_a: DOID:9006114 ! Bird Diseases

[Term]
id: DOID:450
name: myotonic disease
alt_id: MESH:D009223
def: "A muscular dystrophy that is characterized by progressive muscle wasting and weakness. (DO)" [http://en.wikipedia.org/wiki/Myotonic_dystrophy "DO", http://ghr.nlm.nih.gov/condition/myotonic-dystrophy "DO", http://www.genome.gov/25521207 "DO"]
synonym: "myotonic disorder" EXACT []
synonym: "myotonic disorders" EXACT []
synonym: "myotonic myopathies" EXACT []
synonym: "myotonic myopathy" EXACT []
synonym: "PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA" BROAD []
xref: ICD9CM:359.2
xref: MESH:D020967
xref: MIM:PS160900
xref: NCI:C84913
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:4500
name: hypokalemia
def: "Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)" [MESH:D007008]
synonym: "hypokalemias" EXACT []
synonym: "hypopotassemia" EXACT []
synonym: "hypopotassemias" EXACT []
synonym: "potassium deficiency disorder" EXACT []
xref: MESH:D007008
xref: NCI:C34939
is_a: DOID:0050032 ! mineral metabolism disease
is_a: DOID:9004004 ! Water-Electrolyte Imbalance

[Term]
id: DOID:4501
name: orofaciodigital syndrome
def: "A syndrome that is characterized by malformations of the face, oral cavity, and digits. (DO)" [http://en.wikipedia.org/wiki/Orofaciodigital_syndrome "DO", https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance "DO"]
synonym: "dysplasia linguofacialis" EXACT []
synonym: "Gorlin Psaume syndrome" EXACT []
synonym: "oral-facial-digital syndrome" EXACT []
synonym: "orodigitofacial dysostosis" EXACT []
synonym: "orodigitofacial syndrome" EXACT []
synonym: "oro-facio-digital syndrome" EXACT []
synonym: "orofaciodigital syndromes" EXACT []
xref: MESH:D009958
xref: MIM:PS311200
is_a: DOID:1934 ! dysostosis
is_a: DOID:225 ! syndrome
is_a: DOID:9004151 ! Sex Chromosome Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:4504
name: central nervous system angiosarcoma
def: "A central nervous system sarcoma that is located_in the inner lining of blood vessels. (DO)" [http://thejns.org/doi/abs/10.3171/jns.1991.75.1.0073 "DO"]
synonym: "hemangiosarcoma of the CNS" EXACT []
xref: NCI:C5450
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:2133 ! central nervous system sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4505
name: childhood angiosarcoma
def: "An angiosarcoma that affects children. (DO)" [http://findarticles.com/p/articles/mi_qa3725/is_201003/ai_n53080216/ "DO"]
synonym: "paediatric angiosarcoma" EXACT []
synonym: "paediatric hemangiosarcoma" EXACT []
synonym: "pediatric angiosarcoma" EXACT []
synonym: "pediatric hemangiosarcoma" EXACT []
xref: NCI:C9174
is_a: DOID:0001816 ! angiosarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4510
name: aorta angiosarcoma
def: "An angiosarcoma that is located_in the aorta. (DO)" [https://academic.oup.com/icvts/article/6/6/832/649705 "DO", https://pubmed.ncbi.nlm.nih.gov/34238080/ "DO"]
synonym: "aortic hemangiosarcoma" EXACT []
xref: NCI:C5376
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:520 ! aortic disease
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4511
name: breast angiosarcoma
alt_id: RDO:0001929
def: "An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area. (DO)" [http://breastcancer.about.com/od/types/p/angiosarcoma.htm "DO"]
synonym: "angiosarcoma of the breast" EXACT []
synonym: "hemangiosarcoma of the breast" EXACT [NCI2004_11_17:C5184]
xref: MESH:C536368
xref: NCI:C5184
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:3017 ! breast sarcoma

[Term]
id: DOID:4512
name: conventional angiosarcoma
xref: NCI:C9426
xref: RDO:9003654
is_a: DOID:0001816 ! angiosarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4513
name: gallbladder angiosarcoma
def: "An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15861270 "DO"]
synonym: "hemangiosarcoma of gallbladder" EXACT []
xref: NCI:C5840
xref: RDO:9003656
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:4058 ! gallbladder sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4514
name: thyroid angiosarcoma
def: "A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. (DO)" [http://www.pathologyoutlines.com/thyroid.html "DO"]
synonym: "hemangiosarcoma of the Thyroid" EXACT [NCI2004_11_17:C6043]
xref: NCI:C6043
xref: RDO:9003657
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:4515 ! thyroid sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4515
name: thyroid sarcoma
def: "A thyroid gland cancer that is located_in the supporting cells of the thyroid. (DO)" [http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_thyroid_cancer_43.asp "DO"]
synonym: "sarcoma of the thyroid gland" EXACT []
xref: EFO:1001971
xref: NCI:C6041
xref: RDO:9003199
is_a: DOID:1115 ! sarcoma
is_a: DOID:1781 ! thyroid cancer
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4517
name: skin angiosarcoma
def: "An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration. (DO)" [http://ezinearticles.com/?Symptoms-of-Angiosarcoma&id=2101634 "DO"]
synonym: "angiosarcoma of skin" EXACT []
synonym: "hemangiosarcoma of the skin" EXACT []
xref: NCI:C4489
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:2687 ! skin sarcoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:452
name: pleomorphic adenoma
alt_id: DOID:9003620
alt_id: MIM:181030
def: "A gastrointestinal system benign neoplasm that is a located_in the salivary glands. (DO)" [http://en.wikipedia.org/wiki/Pleomorphic_adenoma "DO"]
synonym: "chondroid syringoma" EXACT []
synonym: "chondroid syringomas" EXACT []
synonym: "mixed salivary gland tumor" EXACT []
synonym: "mixed tumor of the salivary gland" EXACT []
synonym: "Parotid Gland Pleomorphic Adenoma" NARROW []
synonym: "PLAG1-RELATED CONDITION" BROAD []
synonym: "pleomorphic adenomas" EXACT []
synonym: "pleomorphic salivary gland adenoma" EXACT []
synonym: "PSA" EXACT []
synonym: "SGPA" EXACT []
xref: EFO:1000384
xref: EFO:1000462
xref: ICDO:8940/0
xref: MESH:C563250
xref: MESH:D008949
xref: NCI:C35691
xref: NCI:C40409
xref: NCI:C8602
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:657 ! adenoma
is_a: DOID:9003216 ! Salivary Gland Neoplasms
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:4520
name: cervical endometrial stromal sarcoma
def: "A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22986788 "DO"]
synonym: "endometrial stromal sarcoma of the cervix" EXACT []
xref: MONDO:0003030
xref: NCI:C40220
is_a: DOID:4521 ! cervix endometrial stromal tumor
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:4521
name: cervix endometrial stromal tumor
def: "A cervical cancer that derives_from the fibrous connective tissue of the endometrium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17619891 "DO"]
xref: NCI:C40218
xref: RDO:9002074
is_a: DOID:1005 ! endometrial disease
is_a: DOID:4362 ! cervical cancer
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:4522
name: superior vena cava angiosarcoma
synonym: "angiosarcoma of the Superior Vena Cava" EXACT [NCI2004_11_17:C5378]
xref: NCI:C5378
xref: RDO:9003658
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:175 ! vascular cancer
is_a: DOID:866 ! vein disease
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4524
name: prostate angiosarcoma
def: "An angiosarcoma and sarcoma of prostate that is located_in the prostate. (DO)" [http://informahealthcare.com/doi/abs/10.3109/00313029009063790?journalCode=pat "DO"]
synonym: "prostatic hemangiosarcoma" EXACT []
xref: NCI:C5528
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:4054 ! prostate sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4525
name: mediastinum angiosarcoma
def: "An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925857/ "DO"]
synonym: "hemangiosarcoma of mediastinum" EXACT []
xref: NCI:C6613
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:4050 ! mediastinum sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4527
name: ovarian angiosarcoma
def: "An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24520828 "DO"]
synonym: "hemangiosarcoma of ovary" EXACT []
xref: NCI:C5232
xref: RDO:9003662
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:2146 ! ovary sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4531
name: mucoepidermoid carcinoma
def: "A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. (DO)" [http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma "DO"]
synonym: "MEC" EXACT []
synonym: "mucoepidermoid carcinomas" EXACT []
xref: GARD:10671
xref: ICDO:8430/3
xref: MESH:D018277
xref: NCI:C3772
is_a: DOID:305 ! carcinoma
is_a: DOID:9006112 ! Mucoepidermoid Tumor

[Term]
id: DOID:4534
name: Hallermann-Streiff syndrome
alt_id: MIM:234100
def: "A syndrome that affects growth, cranial development, hair growth and dental development. (DO)" [http://en.wikipedia.org/wiki/Hallermann-Streiff_syndrome "DO"]
synonym: "Francois Dyscephalic Syndrome" EXACT []
synonym: "Francois dyscephalic syndromes" EXACT []
synonym: "Hallermann's syndrome" EXACT []
synonym: "Hallermanns Syndrome" EXACT []
synonym: "Hallermann-Streiff-Francois syndrome" EXACT []
synonym: "Hallermann syndrome" EXACT []
synonym: "Hallerman-Streiff syndrome" EXACT []
synonym: "HSS" EXACT []
xref: GARD:288
xref: MESH:D006210
xref: NCI:C84746
xref: ORDO:2108
is_a: DOID:225 ! syndrome
is_a: DOID:2339 ! Crouzon syndrome

[Term]
id: DOID:4535
name: hypotrichosis
alt_id: OMIA:001279
def: "A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. (DO)" [http://en.wikipedia.org/wiki/Hypotrichosis "DO", http://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis "DO"]
synonym: "AH" EXACT []
synonym: "ARWH2" NARROW []
synonym: "Hypotrichoses" EXACT []
synonym: "hypotrichosis, autosomal recessive" NARROW []
synonym: "hypotrichosis, recessive" NARROW []
synonym: "HYPOTRICHOSIS WITH WOOLLY HAIR" EXACT []
synonym: "LOCALIZED AR HYPOTRICHOSIS" NARROW []
synonym: "WH/HT" NARROW []
synonym: "Woolly Hair, Autosomal Recessive 2, With Or Without Hypotrichosis" RELATED []
xref: MESH:D007039
xref: MIM:PS605389
xref: NCI:C34720
is_a: DOID:421 ! hair disease

[Term]
id: DOID:4540
name: dysgraphia
def: "A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. (DO)" [http://en.wikipedia.org/wiki/Dysgraphia "DO", http://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm "DO"]
xref: ICD10CM:R48.8
is_a: DOID:0060047 ! writing disorder

[Term]
id: DOID:4541
name: nominal aphasia
def: "An agnosia that involves a severe problem with recalling words or names. (DO)" [http://en.wikipedia.org/wiki/Nominal_aphasia "DO"]
synonym: "Amnesic Aphasia" EXACT []
synonym: "anomia" EXACT []
synonym: "Anomic Aphasia" EXACT []
synonym: "Anomic Dysphasia" EXACT []
synonym: "anomic dysphasias" EXACT []
synonym: "Color Anomia" EXACT []
synonym: "Color Anomias" EXACT []
synonym: "Dysnomia" EXACT []
synonym: "Dysnomias" EXACT []
synonym: "Nominal Dysphasia" EXACT []
synonym: "nominal dysphasias" EXACT []
xref: MESH:D000849
xref: NCI:C34386
is_a: DOID:0060046 ! aphasia
is_a: DOID:93 ! language disorder

[Term]
id: DOID:4542
name: basophil adenoma
def: "A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" [MESH:D000237]
synonym: "Basophil Adenomas" EXACT []
synonym: "Basophilic Adenoma" EXACT []
synonym: "Basophilic Adenomas" EXACT []
synonym: "pituitary gland basophilic adenoma" EXACT []
xref: EFO:1000834
xref: ICDO:8300/0
xref: MESH:D000237
xref: NCI:C2856
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:3829 ! pituitary adenoma
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:4543
name: retrograde amnesia
def: "An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. (DO)" [http://en.wikipedia.org/wiki/Amnesia "DO"]
synonym: "Pre-Ictal Amnesia" EXACT []
synonym: "pre-ictal amnesias" EXACT []
synonym: "Pre Ictal Memory Loss" EXACT []
synonym: "Pre-Ictal Memory Losses" EXACT []
synonym: "Retrograde Amnesias" EXACT []
synonym: "Retrograde Memory Loss" EXACT []
synonym: "retrograde memory losses" EXACT []
xref: ICD10CM:R41.2
xref: MESH:D000648
xref: NCI:C34372
is_a: DOID:10914 ! amnestic disorder

[Term]
id: DOID:4545
name: mesenchymal chondrosarcoma
def: "A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" [MESH:D018211]
synonym: "Mesenchymal Chondrosarcomas" EXACT []
xref: EFO:1001041
xref: ICDO:9240/3
xref: MESH:D018211
xref: NCI:C3737
is_a: DOID:3371 ! chondrosarcoma

[Term]
id: DOID:4546
name: childhood mesenchymal chondrosarcoma
synonym: "pediatric mesenchymal chondrosarcoma" EXACT []
xref: ICD-O:M9240/3
xref: NCI:C27374
is_a: DOID:4545 ! mesenchymal chondrosarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:4547
name: adult mesenchymal chondrosarcoma
def: "An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage. (DO)" [http://sarcomahelp.org/learning_center/mesenchymal_chondrosarcoma.html "DO"]
xref: NCI:C27375
is_a: DOID:4545 ! mesenchymal chondrosarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:4548
name: extraskeletal mesenchymal chondrosarcoma
synonym: "mesenchymal extraosseous chondrosarcoma" EXACT []
xref: NCI:C27481
is_a: DOID:4549 ! extraskeletal myxoid chondrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4549
name: extraskeletal myxoid chondrosarcoma
alt_id: DOID:6496
alt_id: MIM:612237
def: "A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. (DO)" [https://en.wikipedia.org/wiki/Myxoid_chondrosarcoma "DO", https://pubmed.ncbi.nlm.nih.gov/10564384/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/16084955 "DO"]
synonym: "EMC" EXACT []
synonym: "extraosseous chondrosarcoma" EXACT []
synonym: "myxoid extraosseous chondrosarcoma" EXACT []
synonym: "TAF15-RELATED CONDITION" EXACT []
xref: MESH:C563195
xref: NCI:C27502
xref: ORDO:209916
is_a: DOID:3371 ! chondrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4550
name: anal gland neoplasm
def: "Tumors or cancer of the anal gland." [MESH:D000694]
synonym: "anal gland neoplasms" EXACT []
synonym: "Circumanal Gland Neoplasm" EXACT []
synonym: "Circumanal Gland Neoplasms" EXACT []
synonym: "Perianal Gland Neoplasm" EXACT []
synonym: "Perianal Gland Neoplasms" EXACT []
xref: EFO:1000804
xref: MESH:D000694
xref: RDO:0004819
is_a: DOID:4551 ! anus benign neoplasm
is_a: DOID:9004985 ! Animal Diseases
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:4551
name: anus benign neoplasm
def: "Tumors or cancer of the ANAL CANAL." [MESH:D001005]
synonym: "anal neoplasm" EXACT []
synonym: "anal neoplasms" EXACT []
synonym: "anal tumors" EXACT []
synonym: "anus neoplasms" EXACT []
synonym: "neoplasm of anus" EXACT []
xref: EFO:0003835
xref: MESH:D001005
xref: MONDO:0021469
xref: NCI:C2877
is_a: DOID:1984 ! rectal benign neoplasm
is_a: DOID:3128 ! anus disease

[Term]
id: DOID:4552
name: large cell carcinoma
def: "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "large cell carcinomas" EXACT []
xref: ICDO:8012/3
xref: MESH:D018287
xref: NCI:C3780
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:4553
name: thymus large cell carcinoma
synonym: "large cell carcinoma of the thymus" EXACT []
xref: NCI:C6461
xref: RDO:9004827
is_a: DOID:3284 ! thymic carcinoma
is_a: DOID:4552 ! large cell carcinoma
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:4554
name: type C thymoma
xref: EFO:1000576
xref: NCI:C7569
is_a: DOID:3275 ! thymoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4555
name: ovarian large-cell neuroendocrine carcinoma
def: "An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis_in neuroendocrine cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014794/ "DO"]
synonym: "non-small-cell type neuroendocrine carcinoma of ovary" EXACT []
xref: NCI:C5238
is_a: DOID:4001 ! ovarian carcinoma
is_a: DOID:4552 ! large cell carcinoma

[Term]
id: DOID:4556
name: lung large cell carcinoma
synonym: "large cell carcinoma of lung" EXACT []
synonym: "Lymphoepithelioma-Like Lung Carcinoma" NARROW []
xref: EFO:0003050
xref: EFO:1000016
xref: EFO:1000340
xref: NCI:C4450
is_a: DOID:3908 ! lung non-small cell carcinoma
is_a: DOID:4552 ! large cell carcinoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:4557
name: oral leukoedema
def: "A mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (DO)" [https://en.wikipedia.org/wiki/Leukoedema "DO"]
synonym: "leukedema of mouth" EXACT []
synonym: "oral leukoedemas" EXACT []
xref: EFO:1001075
xref: MESH:D007967
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:4558
name: Ludwig's angina
alt_id: RDO:0006028
def: "Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)" [MESH:D008158]
synonym: "cellulitis of floor of mouth" EXACT []
synonym: "Ludwig angina" EXACT []
synonym: "Ludwigs angina" EXACT []
xref: EFO:1000730
xref: MESH:D008158
is_a: DOID:3488 ! cellulitis
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:456
name: ascariasis
alt_id: MIM:604291
def: "A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. (DO)" [http://en.wikipedia.org/wiki/Ascariasis "DO", http://www.dpd.cdc.gov/DPDx/HTML/Ascariasis.htm "DO", http://www.merck.com/mmpe/sec14/ch182/ch182d.html?qt=ascariasis&alt=sh "DO"]
synonym: "ascariases" EXACT []
synonym: "ascariasis - roundworm" EXACT []
synonym: "ascaris lumbricoides infection" EXACT []
xref: EFO:0007154
xref: ICD10CM:B77
xref: ICD9CM:127.0
xref: MESH:D001196
xref: NCI:C128392
is_a: DOID:9000395 ! Ascaridida Infections

[Term]
id: DOID:4560
name: non specific chronic endometritis
def: "An endometritis that is present for weeks or more and does not have an identifiable causative organism. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9653909 "DO"]
xref: NCI:C27625
xref: RDO:9003768
is_a: DOID:1002 ! endometritis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4561
name: granulomatous endometritis
def: "An endometritis that is characterized by the presence of granulomas in the uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1326899 "DO"]
xref: NCI:C27626
xref: RDO:9003772
is_a: DOID:1002 ! endometritis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4562
name: subacute bacterial endocarditis
def: "ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." [MESH:D004698]
synonym: "Endocarditis Lenta" EXACT []
synonym: "SBE - subacute bacterial endocarditis" EXACT []
synonym: "Subacute Bacterial Endocarditides" EXACT []
synonym: "subacute endocarditis lenta" EXACT []
xref: EFO:1001193
xref: MESH:D004698
xref: NCI:C34583
is_a: DOID:0060000 ! infective endocarditis
is_a: DOID:9006552 ! Bacterial Endocarditis
is_a: DOID:9006844 ! Streptococcal Infections

[Term]
id: DOID:4584
name: choroid plexus meningioma
synonym: "choroid meningioma" EXACT []
synonym: "meningioma of the choroid plexus" EXACT []
xref: NCI:C4719
is_a: DOID:3540 ! choroid plexus cancer
is_a: DOID:6112 ! cerebral meningioma
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:4586
name: familial meningioma
alt_id: MIM:607174
synonym: "FAMILIAL MULTIPLE MENINGIOMA" NARROW []
synonym: "MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO" RELATED []
synonym: "MN1-RELATED CONDITION" BROAD []
xref: MESH:C537443
xref: NCI:C5301
is_a: DOID:3565 ! meningioma
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:4587
name: benign meningioma
xref: NCI:C4055
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4588
name: secretory meningioma
xref: EFO:1000522
xref: NCI:C4718
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4591
name: lymphoplasmacyte-rich meningioma
synonym: "lymphoplasmocyte-rich meningioma" EXACT []
xref: EFO:1000342
xref: NCI:C4720
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4593
name: childhood meningioma
synonym: "pediatric meningioma" EXACT []
xref: NCI:C8264
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4594
name: microcystic meningioma
xref: EFO:1000376
xref: NCI:C4721
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4603
name: epidermolytic hyperkeratosis
alt_id: OMIA:001415
def: "An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth. (DO)" [https://dermnetnz.org/topics/epidermolytic-ichthyosis "DO", https://medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis/ "DO", MESH:D017488]
synonym: "BCIE" EXACT []
synonym: "BIE" EXACT []
synonym: "bullous congenital ichthyosiform erythroderma" EXACT []
synonym: "bullous erythroderma ichthyosiforme" EXACT []
synonym: "bullous erythroderma ichthyosiformis congenita of Brocq" EXACT []
synonym: "bullous ichthyosiform erythroderma" EXACT []
synonym: "bullous ichthyosiform erythrodermas" EXACT []
synonym: "EHK" EXACT []
synonym: "epidermolytic hyperkeratoses" EXACT []
synonym: "epidermolytic ichthyosis" EXACT []
synonym: "epidermolytic palmoplantar hyperkeratosis" EXACT []
xref: EFO:0004137
xref: GARD:1039
xref: ICD10CM:Q80.3
xref: MESH:D017488
xref: MIM:PS113800
xref: MIM:PS607602
xref: MONDO:0007239
xref: NCI:C62569
is_a: DOID:1697 ! ichthyosis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:4606
name: bile duct cancer
def: "A biliary tract cancer that is located_in the bile duct. (DO)" [http://www.cancer.gov/dictionary/?CdrID=527370 "DO"]
synonym: "bile duct cancers" EXACT []
synonym: "bile duct tumor" EXACT []
synonym: "Ca extrahepatic bile ducts" EXACT []
synonym: "cancer of bile duct" EXACT []
synonym: "cancer of the bile duct" EXACT []
synonym: "malignant neoplasm of the extrahepatic bile duct" EXACT []
xref: ICD10CM:C24.0
xref: ICD9CM:156.1
xref: NCI:C2898
xref: NCI:C7483
is_a: DOID:4607 ! biliary tract cancer
is_a: DOID:9002936 ! Bile Duct Neoplasms
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:4607
name: biliary tract cancer
def: "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. (DO)" [http://en.wikipedia.org/wiki/Biliary_tract_cancer "DO"]
synonym: "malignant tumour of biliary tract" EXACT [SNOMEDCT_2005_07_31:93688006]
xref: GARD:5924
xref: GARD:9304
xref: ICD10CM:C24.9
xref: ICD9CM:156.9
xref: RDO:9003932
is_a: DOID:0080355 ! hepatobiliary system cancer
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4608
name: common bile duct neoplasm
alt_id: RDO:0005246
def: "Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." [MESH:D003138]
synonym: "common bile duct neoplasms" EXACT []
synonym: "neoplasm of common bile duct" EXACT []
xref: EFO:1000876
xref: MESH:D003138
is_a: DOID:0050625 ! biliary tract benign neoplasm
is_a: DOID:4137 ! common bile duct disease
is_a: DOID:9002936 ! Bile Duct Neoplasms

[Term]
id: DOID:461
name: muscle benign neoplasm
synonym: "myomatous neoplasm" EXACT [SNOMEDCT_2005_07_31:189786009]
synonym: "myomatous tumor" EXACT [NCI2004_11_17:C4063]
synonym: "neoplasm of muscle" EXACT [SNOMEDCT_2005_07_31:126616000]
xref: NCI:C4063
xref: RDO:9005020
is_a: DOID:0060099 ! musculoskeletal system benign neoplasm
is_a: DOID:9003582 ! Muscle Tissue Neoplasms
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:4610
name: intestinal benign neoplasm
def: "A gastrointestinal system benign neoplasm that is located_in the intestine. (DO)" [http://en.wikipedia.org/wiki/Benign_tumor "DO"]
synonym: "intestinal tumors" EXACT []
synonym: "intestine growth" EXACT []
synonym: "neoplasm of intestinal tract" EXACT []
xref: NCI:C3141
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:9002245 ! Intestinal Neoplasms
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4613
name: ulnar neuropathy
def: "Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" [MESH:D020424]
synonym: "Ulnar Nerve Disease" EXACT []
synonym: "ulnar nerve diseases" EXACT []
synonym: "Ulnar Nerve Palsies" EXACT []
synonym: "Ulnar Nerve Palsy" EXACT []
synonym: "Ulnar Neuritides" EXACT []
synonym: "ulnar neuritis" EXACT []
synonym: "ulnar neuropathies" EXACT []
xref: EFO:1001224
xref: MESH:D020424
is_a: DOID:1188 ! mononeuropathy

[Term]
id: DOID:4617
name: periapical granuloma
def: "Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." [MESH:D010484]
synonym: "apical granuloma" EXACT []
synonym: "chronic nonsuppurative apical periodontitis" EXACT []
synonym: "chronic nonsuppurative periapical periodontitis" EXACT []
synonym: "Dental Granuloma" EXACT []
synonym: "Dental Granulomas" EXACT []
synonym: "Periapical Granulomas" EXACT []
xref: EFO:1001096
xref: MESH:D010484
is_a: DOID:823 ! periapical periodontitis

[Term]
id: DOID:4618
name: maxillary cancer
def: "A jaw cancer that effects the maxilla or upper jaw. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654824/ "DO"]
synonym: "upper jaw bone cancer" RELATED []
xref: EFO:0007360
is_a: DOID:1862 ! jaw cancer
is_a: DOID:9002201 ! Maxillary Neoplasms

[Term]
id: DOID:4621
name: holoprosencephaly
def: "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. (DO)" [http://en.wikipedia.org/wiki/Holoprosencephaly "DO", http://www.ncbi.nlm.nih.gov/books/NBK1530/ "DO"]
synonym: "alobar holoprosencephalies" EXACT []
synonym: "alobar holoprosencephaly" EXACT []
synonym: "arhinencephalies" EXACT []
synonym: "Arhinencephaly" EXACT []
synonym: "DeMyer sequence" EXACT []
synonym: "FOXH1-RELATED CONDITION" NARROW []
synonym: "Holoprosencephalies" EXACT []
synonym: "Holoprosencephaly, Familial Alobar" EXACT []
synonym: "holoprosencephaly sequence" EXACT []
synonym: "HOLOPROSENCEPHALY SPECTRUM DISORDER" BROAD []
synonym: "HPEC" EXACT []
synonym: "HPE, familial" EXACT []
synonym: "lobar holoprosencephalies" EXACT []
synonym: "lobar holoprosencephaly" EXACT []
synonym: "microform holoprosencephaly" NARROW []
synonym: "semilobar holoprosencephalies" EXACT []
synonym: "semilobar holoprosencephaly" EXACT []
xref: GARD:6665
xref: ICD10CM:Q04.2
xref: MESH:D016142
xref: MIM:PS236100
xref: NCI:C74988
xref: ORDO:2162
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:2490 ! congenital nervous system abnormality
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:4624
name: Ollier disease
def: "A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. (DO)" [http://en.wikipedia.org/wiki/Ollier_disease "DO", http://rarediseases.info.nih.gov/GARD/Condition/7251/Ollier_disease.aspx "DO"]
synonym: "chondrodysplasia with hemangioma" EXACT []
synonym: "chondroplasia angiomatosis" EXACT []
synonym: "dyschondrodysplasia with hemangiomas" EXACT []
synonym: "dyschondroplasia" EXACT []
synonym: "Dyschondroplasia and Cavernous Hemangioma" EXACT []
synonym: "Enchondromatoses" EXACT []
synonym: "enchondromatosis" EXACT []
synonym: "Enchondromatosis, Multiple" EXACT []
synonym: "ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE" EXACT []
synonym: "enchondromatosis with haemangiomata" EXACT []
synonym: "Enchondromatosis with Hemangiomata" EXACT []
synonym: "Enchondromatosis with Multiple Cavernous Hemangiomas" EXACT []
synonym: "Hemangiomata with Dyschondroplasia" EXACT []
synonym: "Hemangiomatosis Chondrodystrophica" EXACT []
synonym: "Kast's syndrome" EXACT []
synonym: "Kast Syndrome" EXACT []
synonym: "Multiple Angiomas and Endochondromas" EXACT []
synonym: "Multiple Enchondroma" EXACT []
synonym: "Multiple Enchondromas" EXACT []
synonym: "multiple enchondroses" EXACT []
synonym: "multiple enchondrosis" EXACT []
synonym: "Ollier's disease" EXACT []
synonym: "Olliers disease" EXACT []
synonym: "osteochondromatosis" EXACT []
xref: GARD:7251
xref: ICD10CM:Q78.4
xref: MESH:D004687
xref: MIM:166000
xref: MONDO:0008145
xref: NCI:C3008
xref: NCI:C3213
xref: ORDO:296
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:4626
name: hydranencephaly
alt_id: RDO:0003417
def: "A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)" [MESH:D006832]
synonym: "Cerebral Hemispheres, Absence, Congenital" EXACT []
synonym: "Congenital Absence of Cerebral Hemispheres" EXACT []
synonym: "Hemihydranencephalies" EXACT []
synonym: "Hemihydranencephaly" EXACT []
synonym: "Hydranencephalies" EXACT []
synonym: "Hydranencephaly with Proliferative Vasculopathy" EXACT []
xref: GARD:6681
xref: MESH:D006832
xref: NCI:C98949
is_a: DOID:0060668 ! anencephaly

[Term]
id: DOID:4627
name: ideomotor apraxia
def: "A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" [MESH:D020240]
synonym: "Classic Apraxia" EXACT []
synonym: "Classic Apraxias" EXACT []
synonym: "Ideokinetic Apraxia" EXACT []
synonym: "Ideokinetic Apraxias" EXACT []
synonym: "Ideomotor Apraxias" EXACT []
synonym: "Ideomotor Dyspraxia" EXACT []
synonym: "Ideomotor Dyspraxias" EXACT []
synonym: "Limb Kinetic Apraxia" EXACT []
synonym: "Limb Kinetic Apraxias" EXACT []
synonym: "Transcortical Apraxia" EXACT []
synonym: "Transcortical Apraxias" EXACT []
xref: EFO:1000980
xref: MESH:D020240
xref: RDO:0007370
is_a: DOID:0060135 ! apraxia

[Term]
id: DOID:4630
name: inverted transitional papilloma
xref: NCI:C4118
is_a: DOID:2670 ! transitional papilloma
is_a: DOID:3179 ! inverted papilloma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4633
name: nasal cavity inverting papilloma
synonym: "inverting papilloma of the nasal cavity" EXACT []
xref: NCI:C8194
is_a: DOID:9310 ! nasal cavity benign neoplasm

[Term]
id: DOID:4636
name: submandibular adenitis
def: "Inflammation of the submandibular lymph nodes. (NCI)" []
synonym: "submandibular lymphadenitis" EXACT []
xref: NCI:C27016
is_a: DOID:4637 ! cervical adenitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4637
name: cervical adenitis
synonym: "cervical lymphadenitis" EXACT []
xref: NCI:C26937
is_a: DOID:1602 ! lymphadenitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4638
name: postauricular lymphadenitis
xref: NCI:C27332
xref: RDO:9003861
is_a: DOID:1602 ! lymphadenitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4639
name: suppurative lymphadenitis
synonym: "suppurative lymphadenopathy" EXACT []
xref: NCI:C27135
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:1602 ! lymphadenitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4640
name: axillary adenitis
xref: NCI:C27333
is_a: DOID:1602 ! lymphadenitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4644
name: epidermolysis bullosa simplex
alt_id: OMIA:002080
def: "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. (DO)" [https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#genes "DO"]
synonym: "EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE" NARROW []
synonym: "Epidermolysis Bullosa Simplex, Cockayne Touraine Type" EXACT []
synonym: "Epidermolysis bullosa, simplex, PLEC" NARROW []
synonym: "Epidermolysis bullosa, simplex, PLEC-related" NARROW []
xref: GARD:10752
xref: MESH:D016110
xref: MIM:PS131760
xref: NCI:C84692
xref: ORDO:304
is_a: DOID:2730 ! epidermolysis bullosa

[Term]
id: DOID:4645
name: retinal cancer
synonym: "cancer of the retina" EXACT []
synonym: "malignant neoplasm of retina" EXACT []
synonym: "malignant retinal neoplasm" EXACT []
synonym: "malignant tumor of retina" EXACT []
synonym: "retinal cancers" EXACT []
xref: EFO:0005716
xref: ICD10CM:C69.2
xref: ICD9CM:190.5
xref: NCI:C3216
xref: NCI:C4800
is_a: DOID:2174 ! ocular cancer
is_a: DOID:9006483 ! Retinal Neoplasms
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:4647
name: trilateral retinoblastoma
def: "A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10391573 "DO"]
is_a: DOID:768 ! retinoblastoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:4648
name: familial retinoblastoma
synonym: "familial retinoblastomas" EXACT []
synonym: "hereditary retinoblastoma" EXACT []
synonym: "hereditary retinoblastomas" EXACT []
xref: NCI:C8495
xref: ORDO:357027
is_a: DOID:768 ! retinoblastoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:4650
name: bilateral retinoblastoma
def: "A retinoblastoma that develops in both eyes. (DO)" [http://en.wikipedia.org/wiki/Retinoblastoma "DO"]
xref: NCI:C8713
xref: RDO:9003467
is_a: DOID:768 ! retinoblastoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:4651
name: unilateral retinoblastoma
def: "A retinoblastoma that effects only one eye. (DO)" [http://en.wikipedia.org/wiki/Retinoblastoma "DO"]
xref: NCI:C8714
xref: RDO:9003468
is_a: DOID:768 ! retinoblastoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:4653
name: intraocular retinoblastoma
def: "A retinoblastoma that is located_in the eye and has not spread to other parts of the body. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28620731 "DO"]
xref: NCI:C7846
is_a: DOID:768 ! retinoblastoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:4656
name: extraocular retinoblastoma
def: "A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7 "DO"]
xref: NCI:C7848
is_a: DOID:768 ! retinoblastoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:4658
name: benign mastocytoma
xref: NCI:C9303
is_a: DOID:0060084 ! cell type benign neoplasm

[Term]
id: DOID:4659
name: extracutaneous mastocytoma
def: "A solid tumor consisting of a dense infiltration of MAST CELLS. It is generally benign." [MESH:D034801]
synonym: "extracutaneous mastocytomas" EXACT []
xref: EFO:1000932
xref: ICD10CM:D47.09
xref: MESH:D034801
xref: NCI:C7136
is_a: DOID:349 ! systemic mastocytosis
is_a: DOID:3664 ! mast cell neoplasm
is_a: DOID:4658 ! benign mastocytoma

[Term]
id: DOID:4660
name: indolent systemic mastocytosis
synonym: "indolent systemic mastocytoses" EXACT []
synonym: "ISM" EXACT []
xref: ICD10CM:D47.02
xref: ICDO:9741/1
xref: NCI:C9286
is_a: DOID:349 ! systemic mastocytosis
is_a: DOID:3664 ! mast cell neoplasm
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4661
name: multiple chemical sensitivity
def: "A syndrome that is an adverse physical reaction to low levels of many common chemicals. (DO)" [http://en.wikipedia.org/wiki/Multiple_chemical_sensitivity "DO", http://www.osha.gov/SLTC/multiplechemicalsensitivities/index.html "DO"]
synonym: "20th century disease" EXACT []
synonym: "chemical AIDS" EXACT []
synonym: "idiopathic environmental illness" EXACT []
synonym: "idiopathic environmental intolerance" EXACT []
synonym: "idiopathic environmental intolerances" EXACT []
synonym: "multiple chemical sensitivities" EXACT []
synonym: "multiple chemical sensitivity syndrome" EXACT []
synonym: "total allergy syndrome" EXACT []
xref: EFO:0007382
xref: MESH:D018777
is_a: DOID:225 ! syndrome
is_a: DOID:9003858 ! Environmental Illness

[Term]
id: DOID:4662
name: thalamic disease
def: "A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury. (DO)" [https://en.wikipedia.org/wiki/Thalamus "DO"]
synonym: "Dejerine Roussy Syndrome" EXACT []
synonym: "thalamic diseases" EXACT []
synonym: "Thalamic Syndrome" EXACT []
synonym: "Thalamic Syndromes" EXACT []
xref: MESH:D013786
xref: NCI:C85186
is_a: DOID:936 ! brain disease

[Term]
id: DOID:4664
name: filamentary keratitis
xref: ICD10CM:H16.12
xref: ICD9CM:370.23
is_a: DOID:4677 ! keratitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:4667
name: kyphosis
alt_id: DOID:9003358
def: "A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column. (DO)" [http://en.wikipedia.org/wiki/Kyphosis "DO", http://www.mayoclinic.com/health/kyphosis/DS00681 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001240.htm "DO", https://www.hopkinsmedicine.org/health/conditions-and-diseases/kyphosis#\:~\:text=Postural%20kyphosis%3A%20the%20most%20common\,used%20to%20help%20correct%20posture "DO", https://www.ncbi.nlm.nih.gov/books/NBK558945/ "DO"]
synonym: "kyphoses" EXACT []
synonym: "kyphosis deformity of spine" EXACT []
xref: MESH:D007738
is_a: DOID:9002608 ! Spinal Curvatures
created_by: mtutaj
creation_date: 2023-07-21T10:06:56Z

[Term]
id: DOID:4668
name: congenital kyphosis
def: "A kyphosis that results_in abnormal formation located_in body of vertebra. (DO)" [http://en.wikipedia.org/wiki/Kyphosis "DO", http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html "DO", http://www.posna.org/education/StudyGuide/congenitalKyphosis.asp "DO", http://www.wheelessonline.com/ortho/congenital_kyphosis "DO"]
is_a: DOID:4667 ! kyphosis
created_by: mtutaj
creation_date: 2023-07-21T10:10:34Z

[Term]
id: DOID:467
name: venous hemangioma
xref: ICDO:9122/0
xref: NCI:C4296
is_a: DOID:255 ! hemangioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4671
name: freemartinism
def: "A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric 'female'(CHIMERISM)." [MESH:D005611]
xref: EFO:1000939
xref: MESH:D005611
is_a: DOID:9003262 ! Sex Chromosome Disorders of Sex Development
is_a: DOID:9004723 ! Cattle Diseases

[Term]
id: DOID:4674
name: androgen insensitivity syndrome
alt_id: MIM:300068
def: "A disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. (DO)" [http://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome "DO", https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1429/ "DO"]
synonym: "AIS" EXACT []
synonym: "androgen insensitivity syndromes" EXACT []
synonym: "androgen receptor deficiencies" EXACT []
synonym: "Androgen Receptor Deficiency" EXACT []
synonym: "Androgen Resistance Syndrome" EXACT []
synonym: "androgen resistance syndromes" EXACT []
synonym: "AR Deficiencies" EXACT []
synonym: "AR Deficiency" EXACT []
synonym: "DHTR Deficiencies" EXACT []
synonym: "DHTR Deficiency" EXACT []
synonym: "Dihydrotestosterone Receptor Deficiencies" EXACT []
synonym: "Dihydrotestosterone Receptor Deficiency" EXACT []
synonym: "Feminisation - testicular" EXACT []
synonym: "Goldberg-Maxwell syndrome" EXACT []
synonym: "Male Pseudohermaphroditism Due to Androgen Insensitivity" EXACT []
synonym: "Testicular Feminization" EXACT []
synonym: "testicular feminizations" EXACT []
synonym: "testicular feminization syndrome" EXACT []
synonym: "testicular feminization syndromes" EXACT []
synonym: "TFM" EXACT []
xref: GARD:5803
xref: ICD10CM:E34.5
xref: ICD9CM:259.51
xref: MESH:D013734
xref: NCI:C120191
xref: NCI:C27226
xref: ORDO:754
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:1923 ! disorder of sexual development
is_a: DOID:225 ! syndrome
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development

[Term]
id: DOID:4675
name: uremic neuropathy
xref: NCI:C27055
xref: RDO:9003040
is_a: DOID:4676 ! uremia
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4676
name: uremia
def: "A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." [MESH:D014511]
synonym: "UREMIA OF renal ORIGIN" EXACT []
synonym: "Uremias" EXACT []
xref: EFO:1001226
xref: MESH:D014511
xref: RDO:0005752
is_a: DOID:1074 ! kidney failure
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:4677
name: keratitis
def: "A corneal disease that is characterized by inflammation of the cornea. (DO)" [http://www.mayoclinic.org/diseases-conditions/keratitis/basics/definition/con-20035288 "DO"]
synonym: "keratitides" EXACT []
xref: EFO:0009449
xref: ICD10CM:H16
xref: ICD9CM:370
xref: MESH:D007634
xref: NCI:C26805
is_a: DOID:10124 ! corneal disease

[Term]
id: DOID:4678
name: thymus mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma located_in the thymus. (DO)" [https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html "DO"]
synonym: "mucoepidermoid carcinoma of the thymus" EXACT []
xref: NCI:C6457
is_a: DOID:3284 ! thymic carcinoma
is_a: DOID:4531 ! mucoepidermoid carcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:4679
name: breast mucoepidermoid carcinoma
def: "A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758243/ "DO"]
synonym: "mucoepidermoid carcinoma of breast" EXACT []
synonym: "mucoepidermoid carcinoma of the breast" EXACT []
xref: NCI:C5166
xref: RDO:9004466
is_a: DOID:4531 ! mucoepidermoid carcinoma
is_a: DOID:4680 ! breast metaplastic carcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:468
name: intramuscular hemangioma
synonym: "intramuscular angioma" EXACT []
synonym: "intramuscular hemangiomas" EXACT []
xref: ICDO:9132/0
xref: NCI:C3699
is_a: DOID:461 ! muscle benign neoplasm
is_a: DOID:469 ! deep angioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4680
name: breast metaplastic carcinoma
def: "A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types. (DO)" [http://www.archivesofpathology.org/doi/pdf/10.5858/arpa.2013-0358-RS?code=coap-site "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388429/ "DO"]
synonym: "metaplastic carcinoma of breast" EXACT []
synonym: "metaplastic carcinoma of the breast" EXACT []
xref: EFO:1000040
xref: EFO:1000374
xref: GARD:10804
xref: ICDO:8575/3
xref: NCI:C5164
is_a: DOID:3459 ! breast carcinoma
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:4681
name: bile duct mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma located_in a bile duct. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35140960/ "DO", https://pubmed.ncbi.nlm.nih.gov/35697621/ "DO"]
synonym: "mucoepidermoid carcinoma of the bile duct" EXACT []
xref: NCI:C5862
is_a: DOID:4531 ! mucoepidermoid carcinoma
is_a: DOID:4897 ! bile duct carcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:4682
name: extrahepatic bile duct carcinoma
def: "A cholangiocarcinoma that arises from the extrahepatic bile ducts. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer "DO"]
synonym: "carcinoma of extrahepatic bile duct" EXACT []
synonym: "extrahepatic bile duct cancer" EXACT []
xref: MONDO:0003090
xref: NCI:C3860
is_a: DOID:4947 ! cholangiocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:4683
name: cutaneous mucoepidermoid carcinoma
synonym: "mucoepidermoid carcinoma of skin" EXACT []
synonym: "mucoepidermoid skin carcinoma" EXACT []
xref: NCI:C4472
is_a: DOID:3451 ! skin carcinoma
is_a: DOID:4531 ! mucoepidermoid carcinoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:4685
name: lacrimal gland mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma located_in the lacrimal gland. (DO)" [https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html "DO"]
synonym: "mucoepidermoid carcinoma of the lacrimal gland" EXACT []
xref: MONDO:003092
xref: NCI:C6091
is_a: DOID:293 ! lacrimal gland carcinoma
is_a: DOID:4531 ! mucoepidermoid carcinoma
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:4686
name: mucoepidermoid esophageal carcinoma
synonym: "Mucoepidermoid carcinoma of the esophagus" EXACT [NCI2004_11_17:C5343]
xref: NCI:C5343
xref: RDO:9002305
is_a: DOID:1107 ! esophageal carcinoma
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:4687
name: thyroid gland mucoepidermoid carcinoma
def: "A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38762 "DO"]
synonym: "mucoepidermoid thyroid carcinoma" EXACT []
xref: EFO:1000590
xref: NCI:C38762
xref: RDO:9003201
is_a: DOID:3963 ! thyroid gland carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4688
name: laryngeal mucoepidermoid carcinoma
def: "A mucoepidermoid carcinoma located_in the larynx. (DO)" [https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html "DO"]
synonym: "mucoepidermoid carcinoma of larynx" EXACT []
xref: NCI:C9463
is_a: DOID:2600 ! laryngeal carcinoma
is_a: DOID:4531 ! mucoepidermoid carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:469
name: deep angioma
xref: NCI:C6555
is_a: DOID:255 ! hemangioma

[Term]
id: DOID:4690
name: childhood mediastinal neurogenic tumor
synonym: "childhood mediastinal neurogenic tumour" EXACT []
synonym: "paediatric neurogenic tumour of mediastinum" EXACT []
synonym: "pediatric neurogenic tumor of mediastinum" EXACT []
xref: ICD-O:M9540/3
xref: NCI:C5429
is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm

[Term]
id: DOID:4691
name: malignant mediastinal neurogenic neoplasm
def: "A mediastinal cancer that has_material_basis_in neural cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11154721 "DO"]
synonym: "neurogenic tumor of mediastinum" EXACT []
xref: NCI:C6624
xref: RDO:9002768
is_a: DOID:5559 ! mediastinal cancer
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:4692
name: endophthalmitis
def: "A globe disease that is characterized by inflammation of the inside of the eye. (DO)" [http://en.wikipedia.org/wiki/Endophthalmitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=endophthalmitis "DO", https://www.merckmanuals.com/home/eye-disorders/uveitis-and-related-disorders/endophthalmitis "DO"]
synonym: "endophthalmitides" EXACT []
synonym: "Infectious Endophthalmitides" EXACT []
synonym: "Infectious Endophthalmitis" EXACT []
synonym: "Ophthalmia" EXACT []
synonym: "ophthalmias" EXACT []
xref: MESH:D009877
xref: NCI:C34586
is_a: DOID:1242 ! globe disease
is_a: DOID:9008201 ! Eye Infections

[Term]
id: DOID:4693
name: nerve plexus neoplasm
synonym: "neural plexus tumors" EXACT []
xref: NCI:C5822
xref: RDO:9004107
is_a: DOID:1192 ! peripheral nervous system neoplasm

[Term]
id: DOID:4696
name: intraneural perineurioma
xref: GARD:10921
xref: NCI:C6911
is_a: DOID:4697 ! perineurioma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:4697
name: perineurioma
synonym: "perineuriomas" EXACT []
synonym: "soft tissue perineurioma" EXACT []
xref: GARD:12698
xref: ICDO:9571/0
xref: NCI:C4973
xref: NCI:C6912
is_a: DOID:3193 ! peripheral nerve sheath neoplasm
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:4698
name: nerve root neoplasm
synonym: "tumor of nerve root" EXACT []
xref: NCI:C5119
is_a: DOID:1192 ! peripheral nervous system neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:4699
name: epicardium cancer
synonym: "Epicardial tumor" EXACT [NCI2004_11_17:C5347]
synonym: "malignant Epicardial tumor" EXACT [NCI2004_11_17:C4568]
synonym: "malignant neoplasm of epicardium" EXACT []
xref: NCI:C5347
xref: RDO:9005076
is_a: DOID:116 ! pericardium cancer
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:47
name: prostate disease
def: "Pathological processes involving the PROSTATE or its component tissues." [MESH:D011469]
synonym: "Prostatic Disease" EXACT []
synonym: "Prostatic Diseases" EXACT []
xref: EFO:0009602
xref: ICD10CM:N42.9
xref: ICD9CM:602.9
xref: MESH:D011469
xref: NCI:C26865
xref: RDO:0006418
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:470
name: verrucous keratotic hemangioma
def: "This is a skin hemangioma characterized by the presence of epidermal hyperplasia." []
synonym: "verrucous hemangioma" EXACT []
synonym: "VERRUCOUS VENOUS MALFORMATION" EXACT []
xref: ICDO:9142/0
xref: NCI:C4299
xref: ORDO:464318
is_a: DOID:471 ! skin hemangioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4702
name: mongolian spot
alt_id: RDO:0007559
def: "A bluish-gray to gray-brown benign, melanocytic nevus found usually in the LUMBOSACRAL REGION of dark-skinned people, especially those of East Asian ancestry. It is usually congenital or appears shortly after birth, and disappears in childhood." [MESH:D049328]
synonym: "Mongolian Blue Spot" EXACT []
synonym: "Mongolian macula" EXACT []
xref: EFO:1000736
xref: MESH:D049328
xref: NCI:C3945
is_a: DOID:37 ! skin disease
is_a: DOID:9005120 ! Pigmented Nevus

[Term]
id: DOID:4706
name: infratentorial cancer
def: "A brain cancer that is located_in the infratentorial region. (DO)" [http://en.wikipedia.org/wiki/Tentorium_cerebelli "DO", http://www.ncbi.nlm.nih.gov/mesh/68015192 "DO"]
synonym: "infratentorial brain neoplasm" EXACT []
synonym: "infratentorial cancers" EXACT []
synonym: "malignant infratentorial tumors" EXACT []
xref: ICD10CM:C71.7
xref: NCI:C3139
xref: NCI:C4966
is_a: DOID:1319 ! brain cancer
is_a: DOID:9001662 ! Infratentorial Neoplasms

[Term]
id: DOID:4707
name: cervicomedullary junction neoplasm
synonym: "tumor of the cervicomedullary junction" EXACT []
xref: NCI:C5423
is_a: DOID:4706 ! infratentorial cancer

[Term]
id: DOID:4708
name: foramen magnum meningioma
synonym: "meningioma of the foramen magnum" EXACT []
xref: NCI:C5280
is_a: DOID:3565 ! meningioma
is_a: DOID:4437 ! skull base meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:471
name: skin hemangioma
synonym: "angioma of the skin" EXACT []
synonym: "angiomatous naevus of skin" EXACT []
xref: NCI:C4905
is_a: DOID:255 ! hemangioma
is_a: DOID:3165 ! skin benign neoplasm

[Term]
id: DOID:4715
name: gastric neuroendocrine neoplasm
synonym: "Gastric Neuroendocrine Tumor G1" NARROW []
synonym: "neuroendocrine tumor of the stomach" EXACT [NCI2004_11_17:C5696]
xref: EFO:1000275
xref: NCI:C24219
xref: NCI:C5696
xref: RDO:9004100
is_a: DOID:4148 ! gastrointestinal neuroendocrine benign tumor
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:4716
name: malignant gastric germ cell tumor
synonym: "germ cell tumor of the stomach" EXACT []
synonym: "germ cell tumour of the stomach" EXACT []
synonym: "malignant gastric germ cell tumour" EXACT []
xref: MONDO:0003112
xref: NCI:C6448
is_a: DOID:10534 ! stomach cancer
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:4717
name: extragonadal germ cell cancer
def: "A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary. (DO)" [http://tcrc.acor.org/egc.html "DO", http://www.cancer.gov/cancertopics/types/extragonadal-germ-cell "DO"]
synonym: "extragonadal germ cell malignant tumor" EXACT []
synonym: "neoplasm of Extragonadal germ cell" EXACT []
synonym: "tumor of extragonadal germ cell" EXACT []
xref: NCI:C3918
xref: NCI:C8881
xref: RDO:9003433
is_a: DOID:2994 ! germ cell cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:4719
name: bone giant cell sarcoma
def: "A malignant giant cell tumor that is composed_of multinucleated giant cells. (DO)" [http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone "DO"]
synonym: "giant cell sarcoma of the bone" EXACT []
synonym: "malignant giant cell tumor of bone" EXACT []
xref: EFO:1000347
xref: NCI:C4304
is_a: DOID:2705 ! malignant giant cell tumor

[Term]
id: DOID:472
name: subglottic angioma
synonym: "hemangioma of the subglottis" EXACT []
xref: NCI:C6026
is_a: DOID:10069 ! subglottis benign neoplasm
is_a: DOID:255 ! hemangioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4723
name: intracranial hypotension
def: "A brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of CSF into another body cavity; may result in the downward displacement of the cerebellar tonsils through the foramen magnum or Chiari malformation; has_symptom orthostatic headache; other symptoms are related to compression of cranial nerves due to brain sagging. (DO)" [https://en.wikipedia.org/wiki/Cerebrospinal_fluid_leak "DO", https://en.wikipedia.org/wiki/Intracranial_pressure "DO", https://en.wikipedia.org/wiki/Spontaneous_cerebrospinal_fluid_leak "DO"]
synonym: "Cerebrospinal Fluid Hypovolemia" EXACT []
synonym: "Cerebrospinal Fluid Hypovolemias" EXACT []
synonym: "CSF Hypovolemia" EXACT []
synonym: "CSF Hypovolemias" EXACT []
synonym: "Essential Intracranial Hypotension" EXACT []
synonym: "Secondary Intracranial Hypotension" EXACT []
synonym: "Spontaneous Intracranial Hypotension" EXACT []
xref: EFO:1000993
xref: ICD10CM:G96.81
xref: MESH:D019585
is_a: DOID:936 ! brain disease

[Term]
id: DOID:4724
name: brain edema
def: "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma. (DO)" [https://en.wikipedia.org/wiki/Cerebral_edema "DO"]
synonym: "Brain Swelling" EXACT []
synonym: "brain swellings" EXACT []
synonym: "Cerebral Edema" EXACT []
synonym: "Cerebral Edemas, Vasogenic" EXACT []
synonym: "Cytotoxic Brain Edema" EXACT []
synonym: "Cytotoxic Cerebral Edema" EXACT []
synonym: "Intracranial Edema" EXACT []
synonym: "intracranial swelling" EXACT []
synonym: "Vasogenic Brain Edema" EXACT []
synonym: "vasogenic cerebral edema" EXACT []
synonym: "wet brain" EXACT []
xref: EFO:1000845
xref: MESH:D001929
is_a: DOID:9000197 ! Edema
is_a: DOID:936 ! brain disease

[Term]
id: DOID:4730
name: vasomotor rhinitis
def: "A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food. (DO)" [http://en.wikipedia.org/wiki/Rhinitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vasomotor%20rhinitis "DO"]
synonym: "vasomotor rhinitides" EXACT []
xref: EFO:0007533
xref: ICD10CM:J30.0
xref: MESH:D012223
xref: NCI:C34988
is_a: DOID:4483 ! rhinitis

[Term]
id: DOID:4731
name: atrophic rhinitis
def: "A rhinitis which involves inflammation of the nose characterized by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues. (DO)" [http://en.wikipedia.org/wiki/atrophic_rhinitis "DO", http://www.springerlink.com/content/d2712j215h42656g/fulltext.pdf "DO"]
synonym: "atrophic rhinitides" EXACT []
synonym: "dry rhinitis" EXACT []
synonym: "Ozaena" EXACT []
synonym: "Ozena" EXACT []
synonym: "ozenas" EXACT []
synonym: "rhinitis sicca" RELATED []
xref: EFO:0007159
xref: MESH:D012222
is_a: DOID:4483 ! rhinitis

[Term]
id: DOID:4734
name: calciphylaxis
def: "Condition of induced systemic hypersensitivity in which tissues respond to appropriate challenging agents with a sudden local calcification." [MESH:D002115]
synonym: "Calciphylaxes" EXACT []
synonym: "Idiopathic Calciphylaxis" EXACT []
xref: GARD:5980
xref: MESH:D002115
xref: NCI:C84607
xref: RDO:0005093
is_a: DOID:182 ! calcinosis

[Term]
id: DOID:4737
name: somatoform disorder
alt_id: MESH:D011602
def: "A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. (DO)" [http://en.wikipedia.org/wiki/Somatoform_disorder "DO"]
synonym: "Briquet syndrome" EXACT []
synonym: "medically unexplained syndrome" EXACT []
synonym: "medically unexplained syndromes" EXACT []
synonym: "physiological malfunction arising from mental factor" EXACT []
synonym: "psychophysiological disorder" EXACT []
synonym: "psychophysiological disorders" EXACT []
synonym: "psychophysiologic disorder" EXACT []
synonym: "psychophysiologic disorders" EXACT []
synonym: "psychosomatic disorder" EXACT []
synonym: "psychosomatic disorders" EXACT []
synonym: "somatoform disorders" EXACT []
xref: EFO:0009687
xref: ICD10CM:F45
xref: ICD9CM:300.8
xref: MESH:D013001
xref: NCI:C34956
is_a: DOID:150 ! disease of mental health
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:4739
name: testicular Brenner tumor
def: "A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C39953 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245059/ "DO"]
xref: NCI:C39953
is_a: DOID:2998 ! testicular cancer
is_a: DOID:9003150 ! Brenner Tumor
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:474
name: histiocytoid hemangioma
synonym: "angiolymphoid hyperplasia with eosinophilia" EXACT []
synonym: "epithelioid haemangioma" EXACT []
synonym: "epithelioid hemangioma" EXACT []
synonym: "histiocytoid hemangiomas" EXACT []
xref: NCI:C4298
is_a: DOID:255 ! hemangioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4743
name: mixed testicular germ cell tumor
def: "A mixed germ cell cancer that is located_in the testis. (DO)" [http://en.wikipedia.org/wiki/Germ_cell_tumor "DO"]
synonym: "mixed germ cell tumor of testis" EXACT []
synonym: "mixed germ cell tumour of testis" EXACT []
synonym: "mixed testicular germ cell tumour" EXACT []
xref: EFO:0010831
xref: NCI:C6347
is_a: DOID:5556 ! testicular malignant germ cell cancer

[Term]
id: DOID:4744
name: placenta accreta
def: "A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. (DO)" [http://en.wikipedia.org/wiki/Placenta_accreta "DO"]
synonym: "placenta increta" EXACT []
synonym: "placenta percreta" EXACT []
xref: EFO:0007440
xref: ICD10CM:O43.21
xref: MESH:D010921
xref: NCI:C26856
is_a: DOID:780 ! placenta disease
is_a: DOID:9000610 ! Obstetric Labor Complications

[Term]
id: DOID:4749
name: middle cranial fossa meningioma
synonym: "meningioma of the middle cranial fossa" EXACT []
xref: NCI:C5586
xref: RDO:9004622
is_a: DOID:4437 ! skull base meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4751
name: striatonigral degeneration
def: "A sporadic neurodegenerative disease with onset in middle-age characterized clinically by Parkinsonian features (e.g., MUSCLE RIGIDITY; HYPOKINESIA; stooped posture) and HYPOTENSION. This condition is considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Pathologic features include a prominent loss of neurons in the zona compacta of the SUBSTANTIA NIGRA and PUTAMEN. (From Adams et al., Principles of Neurology, 6th ed, p1075-6)" [MESH:D020955]
synonym: "bilateral striatal necrosis with dystonia" NARROW []
synonym: "striatonigral atrophies" EXACT []
synonym: "striatonigral atrophy" EXACT []
synonym: "striatonigral degenerations" EXACT []
xref: ICD10CM:G23.2
xref: MESH:D020955
xref: MIM:PS271930
xref: NCI:C125695
is_a: DOID:4752 ! multiple system atrophy

[Term]
id: DOID:4752
name: multiple system atrophy
def: "A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)" [MESH:D019578]
synonym: "multiple system atrophies" EXACT []
synonym: "MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE" NARROW []
synonym: "multiple system atrophy syndrome" EXACT []
synonym: "multisystem atrophies" EXACT []
synonym: "multisystem atrophy" EXACT []
synonym: "multisystemic atrophies" EXACT []
synonym: "multisystemic atrophy" EXACT []
xref: EFO:0002505
xref: EFO:1001050
xref: GARD:7079
xref: MESH:D019578
xref: NCI:C84909
xref: NCI:C85066
is_a: DOID:0050890 ! synucleinopathy
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:225 ! syndrome
is_a: DOID:480 ! movement disease
is_a: DOID:679 ! basal ganglia disease
is_a: DOID:9003171 ! Primary Dysautonomias

[Term]
id: DOID:4756
name: testicular Leydig cell tumor
alt_id: DOID:6021
synonym: "testicular Leydig cell neoplasm" EXACT []
xref: EFO:1000569
xref: NCI:C39942
xref: NCI:C6356
is_a: DOID:2696 ! Leydig cell tumor
is_a: DOID:4757 ! testicular sex cord-stromal neoplasm
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4757
name: testicular sex cord-stromal neoplasm
def: "A sex cord-gonadal stromal tumor that is located_in the testis. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=18.10e&code=C6358&ns=ncit&type=relationship&key=null&b=1&n=0&vse=null "DO"]
synonym: "sex cord-stromal tumor of testis" EXACT []
xref: NCI:C39948
is_a: DOID:192 ! sex cord-gonadal stromal tumor
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:476
name: breast hemangioma
def: "A breast benign neoplasm that is characterized by a collection of excess blood vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22434703 "DO"]
synonym: "Angioma of the breast" EXACT [NCI2004_11_17:C5353]
synonym: "hemangioma of breast" EXACT []
xref: NCI:C5353
xref: RDO:9004245
is_a: DOID:0060082 ! breast benign neoplasm
is_a: DOID:255 ! hemangioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4762
name: vasculogenic impotence
def: "An impotence that is characterized by an inability to achieve and maintain an erection due to defects in the arterial blood flow to the penis or a defect in venous occlusive function allowing blood drainage from the erectile tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33227246/ "DO"]
synonym: "arteriogenic impotence" EXACT []
synonym: "Penile Venous Leakage" EXACT []
synonym: "venogenic impotence" EXACT []
xref: EFO:1001234
xref: MESH:D018783
is_a: DOID:1875 ! impotence

[Term]
id: DOID:4765
name: pulmonary blastoma
def: "A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children. (DO)" [http://www.cancer.gov/dictionary/?CdrID=446557 "DO"]
synonym: "blastoma of lung" EXACT []
synonym: "pulmonary blastomas" EXACT []
xref: EFO:0007458
xref: ICDO:8972/3
xref: MESH:D018202
xref: NCI:C3732
is_a: DOID:0070003 ! blastoma
is_a: DOID:1324 ! lung cancer
is_a: DOID:1532 ! pleural disease
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:4766
name: embryoma
def: "A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. (DO)" [http://en.wikipedia.org/wiki/Embryoma "DO"]
xref: EFO:0005785
xref: NCI:C8997
xref: RDO:9003437
is_a: DOID:4236 ! carcinosarcoma
is_a: DOID:688 ! embryonal cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:4767
name: classic pulmonary blastoma
synonym: "biphasic pulmonary blastoma" EXACT []
xref: NCI:C36054
is_a: DOID:4765 ! pulmonary blastoma

[Term]
id: DOID:4768
name: epithelial predominant pulmonary blastoma
xref: NCI:C36053
is_a: DOID:4765 ! pulmonary blastoma

[Term]
id: DOID:4769
name: pleuropulmonary blastoma
def: "A pulmonary blastoma that derives_from the lung or pleural cavity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30480950 "DO"]
synonym: "DICER1-RELATED PLEUROPULMONARY BLASTOMA CANCER PREDISPOSITION SYNDROME" EXACT []
synonym: "PPB" EXACT []
synonym: "PPB familial tumor and dysplasia syndrome" EXACT []
synonym: "PPBFTDS" EXACT []
xref: EFO:0009052
xref: GARD:8757
xref: ICDO:8973/3
xref: MESH:C537516
xref: NCI:C5669
xref: ORDO:64742
is_a: DOID:4765 ! pulmonary blastoma

[Term]
id: DOID:4773
name: congenital mesoblastic nephroma
alt_id: DOID:4772
def: "A kidney cancer that is characterized by the presence of fibroblastic cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588847/ "DO"]
synonym: "congenital mesoblastic nephromas" EXACT []
xref: EFO:0007365
xref: GARD:1493
xref: MESH:D018201
xref: NCI:C6569
xref: ORDO:2665
is_a: DOID:0080015 ! physical disorder
is_a: DOID:3675 ! childhood kidney cancer
created_by: rgd
creation_date: 2017-02-20T18:03:48Z

[Term]
id: DOID:4776
name: rapidly progressive glomerulonephritis
xref: ICD10CM:N01
xref: NCI:C35264
is_a: DOID:2921 ! glomerulonephritis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:4777
name: exudative glomerulonephritis
xref: NCI:C35706
is_a: DOID:2921 ! glomerulonephritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4778
name: proliferative glomerulonephritis
xref: NCI:C35281
is_a: DOID:2921 ! glomerulonephritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4779
name: focal embolic glomerulonephritis
xref: NCI:C35707
is_a: DOID:2921 ! glomerulonephritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4780
name: anti-basement membrane glomerulonephritis
def: "A Goodpasture syndrome that is characterized by damage to only kidney capillaries. (DO)" [https://unckidneycenter.org/kidneyhealthlibrary/glomerular-disease/anti-gbm-disease/ "DO"]
synonym: "anti-GBM glomerulonephritis" EXACT []
synonym: "anti-GBM nephritis" EXACT []
synonym: "anti-glomerular basement membrane glomerulonephritis" EXACT []
xref: MESH:D019867
xref: NCI:C35798
is_a: DOID:2921 ! glomerulonephritis
is_a: DOID:9808 ! Goodpasture syndrome

[Term]
id: DOID:4781
name: diffuse glomerulonephritis
xref: NCI:C35799
is_a: DOID:2921 ! glomerulonephritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4782
name: subacute glomerulonephritis
xref: NCI:C35801
is_a: DOID:2921 ! glomerulonephritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4783
name: mesangial proliferative glomerulonephritis
def: "Inflammation of the renal glomeruli characterized histologically by proliferation of MESANGIAL CELLS and increase in the MESANGIAL EXTRACELLULAR MATRIX." []
synonym: "mesangioproliferative glomerulonephritis" EXACT []
xref: GARD:9580
xref: NCI:C35445
is_a: DOID:2921 ! glomerulonephritis

[Term]
id: DOID:4784
name: immune-complex glomerulonephritis
xref: NCI:C35800
is_a: DOID:2921 ! glomerulonephritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4787
name: cerebellopontine angle primitive neuroectodermal tumor
synonym: "cerebellopontine angle PNET" EXACT []
xref: NCI:C5436
is_a: DOID:3200 ! cerebellopontine angle tumor
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:4788
name: intracranial primitive neuroectodermal tumor
synonym: "intracranial PNET" EXACT []
xref: NCI:C5817
is_a: DOID:0060103 ! central nervous system embryonal tumor
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:479
name: angiokeratoma
def: "A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis." [MESH:D000794]
synonym: "angiokeratoma of skin" EXACT []
synonym: "Angiokeratomas" EXACT []
synonym: "cutaneous angiokeratoma" EXACT []
synonym: "skin angiokeratoma" EXACT []
xref: ICDO:9141/0
xref: MESH:D000794
xref: NCI:C2874
xref: NCI:C4488
is_a: DOID:471 ! skin hemangioma
is_a: DOID:9006948 ! Vascular Tissue Neoplasms

[Term]
id: DOID:4790
name: medulloepithelioma
synonym: "central nervous system medulloepithelioma" EXACT []
synonym: "malignant diktyoma" EXACT []
xref: ICDO:9501/3
xref: NCI:C4327
xref: NCI:C66808
is_a: DOID:0060103 ! central nervous system embryonal tumor
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4791
name: supratentorial primitive neuroectodermal tumor
def: "A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region. (MONDO)" []
synonym: "supratentorial PNET" EXACT []
xref: GARD:7366
xref: MONDO:0003145
xref: NCI:C6968
is_a: DOID:1659 ! supratentorial cancer

[Term]
id: DOID:4795
name: GM2 Gangliosidosis, AB variant
alt_id: MIM:272750
def: "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex. (DO)" [https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant "DO"]
synonym: "Activator Deficiency GM2 Gangliosidosis" EXACT []
synonym: "Activator Deficient Tay Sachs Disease" EXACT []
synonym: "Activator-Deficient Tay-Sachs Diseases" EXACT []
synonym: "Gangliosidosis GM2, Type AB" EXACT []
synonym: "GM2 Activator Deficiencies" EXACT []
synonym: "GM2 Activator Deficiency" EXACT []
synonym: "GM2 Activator Deficiency Disease" EXACT []
synonym: "GM2 gangliosidoses, AB variant" EXACT []
synonym: "GM2 Protein Activator Deficiency Disease" EXACT []
synonym: "Hexosaminidase Activator Deficiencies" EXACT []
synonym: "Hexosaminidase Activator Deficiency" EXACT []
synonym: "hexosaminidase activator protein deficiency disease" EXACT []
synonym: "Tay-Sachs disease AB variant" EXACT []
xref: MESH:D049290
xref: NCI:C133084
is_a: DOID:3320 ! Tay-Sachs disease

[Term]
id: DOID:4796
name: space motion sickness
def: "Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" [MESH:D018489]
synonym: "Space Adaptation Syndrome" EXACT []
xref: EFO:1001188
xref: MESH:D018489
is_a: DOID:2951 ! motion sickness

[Term]
id: DOID:4797
name: SM-AHNMD
synonym: "systemic mastocytosis with associated clonal haematological non-mast cell lineage disease" EXACT []
synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease" EXACT []
xref: EFO:1000559
xref: NCI:C9284
is_a: DOID:349 ! systemic mastocytosis
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4798
name: aggressive systemic mastocytosis
synonym: "aggressive systemic mastocytoses" EXACT []
synonym: "ASM" EXACT []
synonym: "lymphadenopathic mastocytosis with eosinophilia" EXACT []
xref: ICD10CM:C96.21
xref: NCI:C9285
is_a: DOID:349 ! systemic mastocytosis
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:48
name: male reproductive system disease
def: "A reproductive system disease that affects male reproductive organs. (DO)" [https://www.dmu.edu/medterms/male-reproductive-system/male-reproductive-system-diseases/ "DO"]
synonym: "male genital disease" EXACT []
synonym: "male genital diseases" EXACT []
xref: EFO:0009555
xref: ICD10CM:N50.9
xref: ICD9CM:608.9
xref: MESH:D005832
is_a: DOID:15 ! reproductive system disease
is_a: DOID:9008348 ! Male Urogenital Diseases

[Term]
id: DOID:480
name: movement disease
def: "A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity. (DO)" [https://en.wikipedia.org/wiki/Movement_disorders "DO"]
synonym: "Dyskinesia Syndrome" EXACT []
synonym: "dyskinesia syndromes" EXACT []
synonym: "Etat Marbre" EXACT []
synonym: "Movement Disorder" EXACT []
synonym: "Movement Disorders" EXACT []
synonym: "Movement Disorder Syndrome" EXACT []
synonym: "Movement Disorder Syndromes" EXACT []
synonym: "Oral Dyskinesia" NARROW []
synonym: "Oral Dyskinesias" NARROW []
synonym: "status marmoratus" EXACT []
xref: EFO:0004280
xref: MESH:D009069
xref: NCI:C116757
is_a: DOID:331 ! central nervous system disease
is_a: DOID:936 ! brain disease

[Term]
id: DOID:4810
name: cerebrotendinous xanthomatosis
def: "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma. (DO)" [http://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis "DO", http://www.ncbi.nlm.nih.gov/books/NBK1409/ "DO"]
synonym: "cerebral cholesterinoses" EXACT []
synonym: "cerebral cholesterinosis" EXACT []
synonym: "cerebrotendinous xanthomatoses" EXACT []
synonym: "cholestanol storage disease" EXACT []
synonym: "CTX" EXACT []
synonym: "Van Bogaert Scherer Epstein disease" EXACT []
xref: GARD:5622
xref: MESH:D019294
xref: MIM:213700
xref: MONDO:0008948
xref: NCI:C84628
xref: ORDO:909
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:3345 ! xanthomatosis

[Term]
id: DOID:4812
name: adult brainstem gliosarcoma
synonym: "adult brain stem gliosarcoma" EXACT []
xref: NCI:C9370
is_a: DOID:4813 ! adult brain stem glioma

[Term]
id: DOID:4813
name: adult brain stem glioma
def: "A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells. (DO)" [https://en.wikipedia.org/wiki/Brainstem_glioma "DO"]
synonym: "adult Brainstem Neuroglial tumor" EXACT []
xref: NCI:C9091
is_a: DOID:4202 ! brain stem glioma

[Term]
id: DOID:4817
name: ganglioneuroma
def: "An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum. (DO)" [https://medlineplus.gov/ency/article/001437.htm "DO"]
synonym: "Gangliocytoma" EXACT []
synonym: "Gangliocytomas" EXACT []
synonym: "Ganglioneuromas" EXACT []
xref: EFO:0000500
xref: ICDO:9490/0
xref: MESH:D005729
xref: NCI:C3049
xref: NCI:C42065
is_a: DOID:0080321 ! autonomic nervous system benign neoplasm

[Term]
id: DOID:482
name: hemangioma of peripheral nerve
xref: MONDO:0003154
xref: NCI:C27507
is_a: DOID:0080320 ! peripheral nervous system benign neoplasm
is_a: DOID:255 ! hemangioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4829
name: adenosquamous lung carcinoma
def: "An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells. (DO)" [https://en.wikipedia.org/wiki/Adenosquamous_lung_carcinoma "DO"]
xref: EFO:0000233
xref: NCI:C9133
is_a: DOID:1324 ! lung cancer
is_a: DOID:4830 ! adenosquamous carcinoma
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:483
name: cavernous hemangioma
def: "A vascular anomaly that is a collection of tortuous BLOOD VESSELS and connective tissue. This tumor-like mass with the large vascular space is filled with blood and usually appears as a strawberry-like lesion in the subcutaneous areas of the face, extremities, or other regions of the body including the central nervous system." [MESH:D006392]
synonym: "cavernoma" EXACT []
synonym: "Cavernous Angioma" EXACT []
synonym: "cavernous haemangioma" EXACT []
synonym: "Cavernous Hemangiomas" EXACT []
synonym: "Skin Cavernous Hemangioma" NARROW []
synonym: "Strawberry Hemangioma" EXACT []
synonym: "Strawberry Hemangiomas" EXACT []
xref: EFO:1000151
xref: EFO:1000530
xref: ICD10CM:D18.0
xref: ICDO:9121/0
xref: MESH:D006392
xref: NCI:C3086
is_a: DOID:255 ! hemangioma
is_a: DOID:484 ! vascular hemostatic disease

[Term]
id: DOID:4830
name: adenosquamous carcinoma
def: "A squamous cell carcinoma that contains squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC476239/ "DO"]
synonym: "adenosquamous carcinomas" EXACT []
synonym: "adenosquamous cell carcinoma" EXACT []
synonym: "mixed adenocarcinoma and squamous carcinoma" EXACT []
xref: EFO:1000073
xref: ICDO:8560/3
xref: MESH:D018196
xref: NCI:C3727
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:4837
name: Gorham's disease
alt_id: MIM:123880
def: "A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. (DO)" [http://en.wikipedia.org/wiki/Gorham%27s_disease "DO", http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gorham%27s%20Disease "DO"]
synonym: "diffuse cystic angiomatosis of bone" EXACT []
synonym: "Disappearing Bone Disease" EXACT []
synonym: "essential osteolyses" EXACT []
synonym: "essential osteolysis" EXACT []
synonym: "Gorham Disease" EXACT []
synonym: "Gorham-Stout Disease" EXACT []
synonym: "Gorham-Stout Syndrome" RELATED []
synonym: "GSD" EXACT []
synonym: "Idiopathic Multicentric Osteolyses" EXACT []
synonym: "Idiopathic Multicentric Osteolysis" EXACT []
synonym: "Massive Osteolyses" EXACT []
synonym: "massive osteolysis" EXACT []
synonym: "phantom bone disease" EXACT []
xref: GARD:6542
xref: MESH:D010015
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006081 ! Osteolysis

[Term]
id: DOID:4838
name: myoepithelial carcinoma
def: "A carcinoma that derives_from myoepithelial cells. (DO)" [http://www.diagnosticpathology.org/content/3/1/7 "DO"]
xref: GARD:10558
xref: ICDO:8982/3
xref: NCI:C7596
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:4839
name: sebaceous adenocarcinoma
def: "A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" [MESH:D018266]
synonym: "adenocarcinoma of the sebaceous gland" EXACT []
synonym: "sebaceous adenocarcinomas" EXACT []
xref: EFO:1001171
xref: MESH:D018266
xref: NCI:C40310
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4840 ! sebaceous carcinoma
is_a: DOID:9008418 ! Adnexal and Skin Appendage Neoplasms

[Term]
id: DOID:484
name: vascular hemostatic disease
def: "Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS." [MESH:D020141]
synonym: "Hemostatic Disorder" EXACT []
synonym: "Hemostatic Disorders" EXACT []
synonym: "Vascular Hemostatic Disorder" EXACT []
synonym: "Vascular Hemostatic Disorders" EXACT []
xref: MESH:D020141
xref: RDO:0005300
is_a: DOID:178 ! vascular disease
is_a: DOID:2213 ! hemorrhagic disease

[Term]
id: DOID:4840
name: sebaceous carcinoma
def: "A skin cancer that arises from the sebaceous glands. (DO)" [https://www.mayoclinic.org/diseases-conditions/sebaceous-carcinoma/cdc-20352957 "DO"]
synonym: "malignant neoplasm of sebaceous gland" EXACT []
synonym: "Malignant Sebaceous Neoplasm" EXACT []
synonym: "malignant sebaceous tumor" EXACT []
synonym: "Ocular Sebaceous Carcinoma" NARROW []
xref: EFO:1000405
xref: EFO:1001171
xref: ICD10CM:C44
xref: ICDO:8410/3
xref: NCI:C8409
is_a: DOID:305 ! carcinoma
is_a: DOID:4159 ! skin cancer
is_a: DOID:5759 ! sebaceous gland neoplasm
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4843
name: subependymal glioma
def: "Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22)" [MESH:D018315]
synonym: "Adult Subependymal Astrocytoma" EXACT []
synonym: "adult subependymal astrocytomas" EXACT []
synonym: "mixed subependymoma-ependymoma" EXACT []
synonym: "Subependymal Astrocytoma" EXACT []
synonym: "Subependymal Astrocytomas" EXACT []
synonym: "Subependymal Gliomas" EXACT []
synonym: "Subependymal Glioses" EXACT []
synonym: "Subependymal Gliosis" EXACT []
synonym: "Subependymoma" EXACT []
synonym: "Subependymomas" EXACT []
synonym: "WHO grade I ependymal tumor" EXACT []
xref: EFO:1000553
xref: EFO:1001197
xref: ICDO:9383/1
xref: MESH:D018315
xref: NCI:C3795
is_a: DOID:4844 ! benign ependymoma
is_a: DOID:9005834 ! Ependymomas

[Term]
id: DOID:4844
name: benign ependymoma
synonym: "epithelial ependymoma" EXACT []
synonym: "WHO grade II ependymal tumor" EXACT []
xref: EFO:1000028
xref: NCI:C3017
is_a: DOID:0080829 ! low grade glioma
is_a: DOID:9005834 ! Ependymomas
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4845
name: pilomyxoid astrocytoma
def: "A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30945015/ "DO", https://radiopaedia.org/articles/pilomyxoid-astrocytoma?lang=us "DO"]
xref: ICDO:9425/3
xref: NCI:C40315
is_a: DOID:4851 ! pilocytic astrocytoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4846
name: cauda equina intradural extramedullary astrocytoma
synonym: "intradural extramedullary astrocytic tumor of the cauda equina" EXACT []
xref: NCI:C5408
is_a: DOID:4847 ! cauda equina neoplasm
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4847
name: cauda equina neoplasm
synonym: "tumor of the cauda equina" EXACT []
xref: NCI:C5479
is_a: DOID:5612 ! spinal cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4848
name: cerebellar astrocytoma
synonym: "astrocytoma of cerebellum" EXACT []
xref: NCI:C9475
is_a: DOID:3069 ! malignant astrocytoma
is_a: DOID:4205 ! cerebellum cancer
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4851
name: pilocytic astrocytoma
def: "A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. (DO)" [http://en.wikipedia.org/wiki/Pilocytic_astrocytoma "DO", http://www.cancer.gov/dictionary?CdrID=44341 "DO"]
synonym: "grade I astrocytic tumor" EXACT []
synonym: "pilocytic astrocytoma, somatic" RELATED []
synonym: "piloid astrocytoma" EXACT []
xref: GARD:9808
xref: NCI:C4047
xref: ORDO:251612
is_a: DOID:0080830 ! childhood low-grade glioma
is_a: DOID:3069 ! malignant astrocytoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4852
name: pleomorphic xanthoastrocytoma
def: "A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. (DO)" [https://www.cancer.gov/rare-brain-spine-tumor/tumors/pleomorphic-xanthroastrocytoma "DO"]
synonym: "Pleomorphic Xantho-astrocytoma" EXACT []
synonym: "PXA" EXACT []
xref: ICDO:9424/3
xref: NCI:C4323
is_a: DOID:0080829 ! low grade glioma
created_by: rgd
creation_date: 2016-12-02T00:00:00Z

[Term]
id: DOID:4853
name: pilocytic astrocytoma of cerebellum
synonym: "cerebellar pilocytic astrocytoma" EXACT []
xref: NCI:C6809
is_a: DOID:4848 ! cerebellar astrocytoma
is_a: DOID:4851 ! pilocytic astrocytoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4855
name: diencephalic astrocytoma
synonym: "astrocytoma of diencephalon" EXACT []
synonym: "diencephalic astrocytomas" EXACT []
xref: NCI:C5128
is_a: DOID:0060108 ! brain glioma
is_a: DOID:3069 ! malignant astrocytoma
is_a: DOID:3843 ! diencephalic neoplasm
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4856
name: gliofibroma
xref: ICDO:9442/1
xref: NCI:C5419
is_a: DOID:3069 ! malignant astrocytoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4857
name: diffuse astrocytoma
def: "A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures. (DO)" [https://braintumorcenter.ucsf.edu/condition/diffuse-astrocytoma-grade-ii "DO"]
synonym: "diffuse astrocytoma, low grade" EXACT []
synonym: "WHO grade II astrocytoma" EXACT []
xref: NCI:C7173
is_a: DOID:0080829 ! low grade glioma
created_by: mtutaj
creation_date: 2021-01-28T22:56:11Z

[Term]
id: DOID:4858
name: pineal gland astrocytoma
synonym: "pineal astrocytic tumor" EXACT []
xref: NCI:C8274
is_a: DOID:3069 ! malignant astrocytoma
is_a: DOID:5032 ! pineal gland cancer
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:486
name: glomeruloid hemangioma
xref: NCI:C27505
is_a: DOID:255 ! hemangioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4860
name: brain stem astrocytic neoplasm
def: "A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes. (DO)" [https://en.wikipedia.org/wiki/Astrocytoma "DO"]
synonym: "brainstem astrocytoma" EXACT []
xref: NCI:C7445
is_a: DOID:3069 ! malignant astrocytoma
is_a: DOID:4202 ! brain stem glioma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4863
name: spinal cord astrocytoma
synonym: "astrocytoma of spinal cord" EXACT [SNOMEDCT_2005_07_31:254948003]
synonym: "Spinal astrocytoma" EXACT [NCI2004_11_17:C4641]
xref: EFO:1000544
xref: NCI:C4641
xref: RDO:9003310
is_a: DOID:3069 ! malignant astrocytoma
is_a: DOID:3185 ! spinal cord glioma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:4866
name: salivary gland adenoid cystic carcinoma
def: "A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. (DO)" [https://oralcancerfoundation.org/facts/rare/adenoid-cystic-carcinoma/ "DO"]
synonym: "adenoid cystic cancer" EXACT []
xref: NCI:C2970
xref: NCI:C8026
is_a: DOID:0050904 ! salivary gland carcinoma
is_a: DOID:0080202 ! adenoid cystic carcinoma
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:4867
name: cervical adenoid cystic carcinoma
def: "A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26090035 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28348909 "DO"]
synonym: "adenoid cystic carcinoma of the cervix uteri" EXACT []
xref: EFO:1000161
xref: NCI:C6346
is_a: DOID:2893 ! cervix carcinoma

[Term]
id: DOID:4868
name: prostate adenoid cystic carcinoma
synonym: "adenoid cystic carcinoma of prostate" EXACT []
synonym: "adenoid cystic carcinoma of the prostate" EXACT []
xref: NCI:C5539
xref: RDO:9001827
is_a: DOID:0080202 ! adenoid cystic carcinoma
is_a: DOID:10286 ! prostate carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:4869
name: laryngeal adenoid cystic carcinoma
synonym: "adenoid cystic carcinoma of larynx" EXACT []
xref: EFO:1000319
xref: NCI:C9462
xref: RDO:9003916
is_a: DOID:0080202 ! adenoid cystic carcinoma
is_a: DOID:2600 ! laryngeal carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:4870
name: lacrimal gland adenoid cystic carcinoma
synonym: "adenoid cystic carcinoma of lacrimal gland" RELATED []
xref: EFO:1000317
xref: NCI:C4540
is_a: DOID:298 ! lacrimal gland adenocarcinoma
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:4871
name: cutaneous adenocystic carcinoma
synonym: "adenoid cystic carcinoma of the skin" RELATED []
synonym: "adenoid cystic eccrine carcinoma" EXACT []
synonym: "adenoid cystic eccrine carcinoma (morphologic abnormality)" RELATED []
synonym: "adenoid cystic eccrine carcinoma of skin" RELATED []
xref: NCI:C4471
is_a: DOID:3451 ! skin carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:4872
name: lung adenoid cystic carcinoma
synonym: "adenoid cystic carcinoma of lung" EXACT []
synonym: "pulmonary adenoid cystic carcinoma" EXACT []
xref: NCI:C5666
xref: RDO:9001996
is_a: DOID:3905 ! lung carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:4873
name: anterior horn cell disease
def: "A motor neuron disease that is characterized by lower motor neuron signs of wasting, weakness, and loss of reflexes and that is located in the anterior horn of the spinal cord that contains the motor neurons responsible for body muscles. (DO)" [https://academic.oup.com/book/25268/chapter-abstract/189870421?redirectedFrom=fulltext "DO", https://aimdrjournal.com/wp-content/uploads/2021/08/PE6_CR_PM.pdf "DO", https://www.neurores.org/index.php/neurores/article/view/407/409 "DO"]
xref: ICD9CM:335
is_a: DOID:231 ! motor neuron disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:4875
name: trachea adenoid cystic carcinoma
synonym: "adenoid cystic carcinoma of trachea" RELATED []
synonym: "Tracheal adenoid cystic carcinoma" EXACT [NCI2004_11_17:C6051]
xref: EFO:1000598
xref: NCI:C6051
xref: RDO:9002269
is_a: DOID:4876 ! trachea carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:4876
name: trachea carcinoma
def: "A tracheal cancer that effects the airway that leads from the larynx to the bronchi. (DO)" [http://nci.nih.gov/dictionary/?CdrID=46623 "DO"]
synonym: "carcinoma of the trachea" EXACT []
synonym: "Pancoast's tumor" EXACT []
xref: EFO:1000599
is_a: DOID:11920 ! tracheal cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:4877
name: breast adenoid cystic carcinoma
def: "A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266822/ "DO"]
synonym: "adenoid cystic breast carcinoma" EXACT []
synonym: "adenoid cystic carcinoma of breast" EXACT []
synonym: "mammary adenocystic carcinoma" EXACT []
xref: EFO:1000071
xref: NCI:C5130
is_a: DOID:3459 ! breast carcinoma
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:4878
name: esophageal adenoid cystic carcinoma
def: "An esophageal carcinoma that derives_from epithelial cells of the salivary gland. (DO)" [http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma "DO"]
synonym: "adenoid cystic carcinoma, esophagus" EXACT [NCI2004_11_17:C5342]
xref: NCI:C5342
xref: RDO:9002301
is_a: DOID:1107 ! esophageal carcinoma
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:4879
name: Bartholin's gland adenoid cystic carcinoma
def: "A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17488169 "DO"]
synonym: "Bartholin gland adenoid cystic carcinoma" EXACT []
xref: NCI:C40295
is_a: DOID:3999 ! Bartholin's gland carcinoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:4880
name: kidney clear cell sarcoma
def: "A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope. (DO)" [http://en.wikipedia.org/wiki/Clear-cell_sarcoma_of_the_kidney "DO", http://www.cancer.gov/dictionary?CdrID=44997 "DO"]
synonym: "childhood kidney clear cell sarcoma" EXACT []
synonym: "clear cell sarcoma of kidney" EXACT []
synonym: "clear cell sarcoma of the kidney" EXACT []
synonym: "pediatric renal clear cell sarcoma" EXACT []
synonym: "renal clear cell sarcoma" EXACT []
xref: EFO:0000350
xref: NCI:C4264
xref: ORDO:457246
is_a: DOID:4233 ! clear cell sarcoma
is_a: DOID:4242 ! kidney sarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:4885
name: Colorado tick fever
def: "A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. (DO)" [https://www.cdc.gov/coloradotickfever/index.html "DO"]
synonym: "tick fever, American mountain" EXACT []
xref: EFO:0007213
xref: ICD10CM:A93.2
xref: MESH:D003121
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9006487 ! Reoviridae Infections

[Term]
id: DOID:4889
name: lymph node tuberculosis
def: "An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25131362/ "DO", https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"]
synonym: "cervical tuberculous lymphadenitis" EXACT []
synonym: "lymph node tuberculoses" EXACT []
synonym: "Mycobacterial Cervical Lymphadenitis" EXACT []
synonym: "Scrofula" EXACT []
synonym: "scrofulas" EXACT []
synonym: "tuberculous adenitis" EXACT []
synonym: "tuberculous lymphadenitis" EXACT []
synonym: "tuberculous lymphadenopathy" EXACT []
xref: EFO:0007350
xref: ICD10CM:A18.2
xref: MESH:D014388
xref: NCI:C26896
is_a: DOID:0050598 ! extrapulmonary tuberculosis
is_a: DOID:9942 ! lymph node disease

[Term]
id: DOID:4890
name: juvenile myoclonic epilepsy
alt_id: MIM:254770
def: "A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. (DO)" [http://en.wikipedia.org/wiki/Juvenile_myoclonic_epilepsy "DO", http://www.epilepsy.com/epilepsy/epilepsy_juvenilemyoclonic "DO", http://www.ilae-epilepsy.org/Visitors/Documents/EngelClassificationRepo "DO"]
synonym: "Adolescent Myoclonic Epilepsies" EXACT []
synonym: "Adolescent Myoclonic Epilepsy" EXACT []
synonym: "EJM" EXACT []
synonym: "EJM1" NARROW []
synonym: "impulsive petit mal" EXACT []
synonym: "Impulsive Petit Mal Epilepsy" EXACT []
synonym: "Janz Impulsive Petit Mal" EXACT []
synonym: "Janz Juvenile Myoclonic Epilepsy" EXACT []
synonym: "Janz Syndrome" EXACT []
synonym: "JANZ SYNDROME MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1" NARROW []
synonym: "JME" EXACT []
synonym: "JME (Juvenile Myoclonic Epilepsy)" EXACT []
synonym: "Juvenile Myoclonic Epilepsies" EXACT []
synonym: "juvenile myoclonic epilepsy 1" NARROW []
synonym: "Juvenile Myoclonic Epilepsy of Janz" EXACT []
xref: GARD:6808
xref: MESH:D020190
xref: MIM:PS254770
xref: MONDO:0009696
xref: NCI:C84796
xref: ORDO:307
xref: ORDO:862
is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome
is_a: DOID:9005154 ! Myoclonic Epilepsies

[Term]
id: DOID:4892
name: middle ear adenocarcinoma
def: "A middle ear carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of middle ear" RELATED []
synonym: "adenocarcinoma of the middle ear" RELATED []
synonym: "Endolymphatic Sac Tumor" NARROW []
xref: EFO:1000230
xref: NCI:C6848
xref: RDO:9002274
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4893 ! middle ear carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:4893
name: middle ear carcinoma
def: "A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "carcinoma of middle ear" EXACT []
synonym: "carcinoma of the middle ear" EXACT []
xref: NCI:C6089
is_a: DOID:305 ! carcinoma
is_a: DOID:5099 ! middle ear cancer
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:4894
name: rete ovarii adenocarcinoma
def: "An ovary adenocarcinoma that arises from the rete ovarii. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21139896 "DO"]
xref: NCI:C40017
is_a: DOID:3713 ! ovary adenocarcinoma

[Term]
id: DOID:4895
name: rete ovarii benign neoplasm
def: "A female reporoductive organ benign neoplasm that is located_in the rete ovarii. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2852648 "DO"]
xref: NCI:C40016
is_a: DOID:0060112 ! ovarian benign neoplasm
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:4896
name: bile duct adenocarcinoma
def: "A bile duct carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
xref: NCI:C27813
xref: RDO:9002500
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4897 ! bile duct carcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:4897
name: bile duct carcinoma
def: "A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_bile_duct_cancer_69.asp "DO"]
xref: EFO:0005540
xref: MONDO:0005496
xref: NCI:C27814
is_a: DOID:305 ! carcinoma
is_a: DOID:4606 ! bile duct cancer

[Term]
id: DOID:490
name: hemangioma of lung
synonym: "lung hemangioma" EXACT []
synonym: "pulmonary hemangioma" EXACT []
xref: MONDO:0003194
is_a: DOID:255 ! hemangioma
is_a: DOID:3683 ! lung benign neoplasm
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:4901
name: peritoneal serous adenocarcinoma
synonym: "primary peritoneal serous adenocarcinoma" EXACT []
xref: EFO:1000494
xref: NCI:C40023
is_a: DOID:1791 ! peritoneal carcinoma

[Term]
id: DOID:4902
name: appendix carcinoma
def: "An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "Ca appendix" EXACT [SNOMEDCT_2005_07_31:154462002]
synonym: "carcinoma of appendix" EXACT [NCI2004_11_17:C9330]
xref: NCI:C9330
xref: RDO:9002277
is_a: DOID:11239 ! appendix cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:4903
name: granular cell carcinoma
def: "A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. (DO)" [http://en.wikipedia.org/wiki/Granular_cell_tumor "DO"]
synonym: "granular cell adenocarcinoma" EXACT [NCI2004_11_17:C3681]
synonym: "granular cell adenocarcinomas" EXACT []
synonym: "granular cell carcinomas" EXACT []
xref: ICDO:8320/3
xref: NCI:C3681
xref: RDO:9002533
is_a: DOID:2411 ! granular cell tumor
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:4905
name: pancreatic carcinoma
def: "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO", http://www.cancer.gov/cancertopics/types/pancreatic "DO"]
synonym: "CARCINOMA OF HEAD OF PANCREAS" NARROW []
synonym: "carcinoma of pancreas" EXACT []
synonym: "exocrine cancer" RELATED []
synonym: "exocrine pancreas carcinoma" EXACT []
synonym: "familial pancreatic carcinoma" NARROW []
synonym: "pancreatic acinar carcinoma" EXACT []
synonym: "Pancreatic Large Cell Neuroendocrine Carcinoma" NARROW []
xref: EFO:0002618
xref: EFO:1000442
xref: NCI:C134944
xref: NCI:C3850
is_a: DOID:1795 ! malignant exocrine pancreas neoplasm
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:4906
name: small intestine adenocarcinoma
def: "A small intestine carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of small Intestine" RELATED []
synonym: "small intestinal adenocarcinoma" EXACT []
xref: EFO:1000532
xref: GARD:13090
xref: NCI:C7888
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4907 ! small intestine carcinoma
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:4907
name: small intestine carcinoma
def: "A small intestine cancer that develops from epithelial cells and is located_in the small intestine. (DO)" [http://en.wikipedia.org/wiki/Small_intestine_cancer "DO"]
synonym: "cancer of the small bowel" RELATED []
synonym: "small bowel cancer" RELATED []
synonym: "small intestinal carcinoma" EXACT []
xref: EFO:0005588
xref: NCI:C7724
is_a: DOID:10154 ! small intestine cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:4908
name: anal carcinoma
def: "A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. (DO)" [http://en.wikipedia.org/wiki/Anal_cancer "DO"]
synonym: "Ca anus" EXACT []
synonym: "carcinoma of anus" EXACT []
xref: NCI:C9291
is_a: DOID:14110 ! anus cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:4910
name: urethra adenocarcinoma
def: "An urethra cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of the urethra" EXACT []
xref: NCI:C6167
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:734 ! urethra cancer
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:4914
name: esophagus adenocarcinoma
def: "An esophageal carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of esophagus" EXACT []
synonym: "esophageal adenocarcinoma" EXACT []
synonym: "oesophageal adenocarcinoma" EXACT []
xref: EFO:0000478
xref: MESH:C562730
xref: NCI:C4025
is_a: DOID:1107 ! esophageal carcinoma
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:9000117 ! Esophageal Neoplasms

[Term]
id: DOID:4915
name: basophilic adenocarcinoma
synonym: "basophil adenocarcinoma" EXACT [NCI2004_11_17:C27392]
synonym: "basophil carcinoma" EXACT [SNOMEDCT_2005_07_31:47107000]
synonym: "basophilic carcinoma" EXACT []
xref: NCI:C4150
xref: RDO:9002536
is_a: DOID:2531 ! hematologic cancer
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4916 ! pituitary carcinoma
is_a: DOID:9500 ! leukocyte disease
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:4916
name: pituitary carcinoma
synonym: "carcinoma of the pituitary gland" EXACT []
synonym: "pituitary carcinomas" EXACT []
xref: ICDO:8272/3
xref: NCI:C4536
is_a: DOID:1785 ! pituitary cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:4917
name: villous adenocarcinoma
def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15489649 "DO"]
xref: ICDO:8262/3
xref: NCI:C4142
is_a: DOID:299 ! adenocarcinoma
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:4918
name: renal pelvis adenocarcinoma
def: "A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of renal pelvis" RELATED []
synonym: "adenocarcinoma of the kidney Pelvis" RELATED []
xref: NCI:C6143
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4919 ! renal pelvis carcinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:4919
name: renal pelvis carcinoma
synonym: "carcinoma of kidney Pelvis" EXACT []
synonym: "malignant neoplasm of renal pelvis" EXACT []
synonym: "malignant renal Pelvis neoplasm" EXACT []
synonym: "malignant tumor of renal pelvis" EXACT []
synonym: "renal pelvis cancer" EXACT []
xref: EFO:0005582
xref: ICD10CM:C65
xref: ICD9CM:189.1
xref: NCI:C6142
xref: NCI:C7525
xref: RDO:9001914
is_a: DOID:4451 ! renal carcinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:492
name: acquired hemangioma
xref: NCI:C27018
is_a: DOID:255 ! hemangioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4920
name: eccrine adenocarcinoma
def: "An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
xref: ICDO:8413/3
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4921 ! eccrine sweat gland cancer
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4921
name: eccrine sweat gland cancer
synonym: "malignant eccrine skin neoplasm" EXACT []
synonym: "malignant eccrine tumor" EXACT []
xref: EFO:0005553
xref: NCI:C5559
is_a: DOID:173 ! eccrine sweat gland neoplasm
is_a: DOID:2095 ! sweat gland cancer

[Term]
id: DOID:4922
name: breast secretory carcinoma
def: "A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm. (DO)" [http://surgpathcriteria.stanford.edu/breast/secretcabr/printable.html "DO"]
synonym: "juvenile breast carcinoma" EXACT []
synonym: "juvenile carcinoma of the breast" EXACT []
synonym: "juvenile secretory carcinoma of breast" EXACT []
xref: MESH:C537535
xref: NCI:C4189
is_a: DOID:305 ! carcinoma
is_a: DOID:3458 ! breast adenocarcinoma

[Term]
id: DOID:4923
name: thymus adenocarcinoma
def: "A thymic carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of the thymus" EXACT []
xref: NCI:C6459
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:3284 ! thymic carcinoma
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:4926
name: bronchiolo-alveolar adenocarcinoma
def: "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. (DO)" [https://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C2923 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15562552 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9498957 "DO"]
synonym: "alveolar adenocarcinoma" EXACT []
synonym: "alveolar adenocarcinomas" EXACT []
synonym: "Alveolar Carcinoma" EXACT []
synonym: "Alveolar Carcinomas" EXACT []
synonym: "Alveolar Cell Carcinoma" EXACT []
synonym: "bronchioalveolar carcinoma" EXACT []
synonym: "bronchioalveolar lung carcinoma" EXACT []
synonym: "Bronchiolar Carcinoma" EXACT []
synonym: "Bronchiolar Carcinomas" EXACT []
synonym: "Bronchiolo-Alveolar Adenocarcinomas" EXACT []
synonym: "Bronchiolo-Alveolar Carcinoma" EXACT []
synonym: "Bronchioloalveolar Carcinoma" EXACT []
synonym: "bronchiolo-alveolar carcinomas" EXACT []
synonym: "bronchioloalveolar carcinomas" EXACT []
synonym: "minimally invasive lung adenocarcinoma" EXACT []
xref: EFO:0000308
xref: EFO:1001941
xref: MESH:D002282
xref: NCI:C2923
is_a: DOID:3910 ! lung adenocarcinoma

[Term]
id: DOID:4927
name: Klatskin's tumor
alt_id: DOID:5246
def: "An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts. (DO)" [https://meshb.nlm.nih.gov/record/ui?ui=D018285 "DO"]
synonym: "hilar cholangiocarcinoma" EXACT []
synonym: "hilar cholangiocarcinomas" EXACT []
synonym: "hilar cholangiocellular carcinoma" EXACT []
synonym: "Klatskin's tumour" EXACT []
synonym: "Klatskins tumor" EXACT []
synonym: "Klatskin tumor" EXACT []
synonym: "Klatskin tumour" EXACT []
synonym: "perihilar cholangiocarcinoma" EXACT []
synonym: "perihilar extrahepatic bile duct carcinoma" EXACT []
xref: EFO:1001005
xref: EFO:1001959
xref: GARD:10175
xref: MESH:D018285
xref: NCI:C36077
xref: ORDO:99978
is_a: DOID:4928 ! intrahepatic cholangiocarcinoma

[Term]
id: DOID:4928
name: intrahepatic cholangiocarcinoma
def: "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. (DO)" [https://www.dana-farber.org/intrahepatic-cholangiocarcinoma/ "DO"]
synonym: "intrahepatic bile duct carcinoma" EXACT []
synonym: "peripheral cholangiocarcinoma" EXACT []
xref: EFO:1001961
xref: GARD:6042
xref: MONDO:0003210
xref: NCI:C35417
is_a: DOID:4947 ! cholangiocarcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:4929
name: tubular adenocarcinoma
def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK553180/ "DO"]
synonym: "tubular adenocarcinomas" EXACT []
synonym: "tubular carcinoma" EXACT []
synonym: "tubular carcinomas" EXACT []
xref: EFO:0006500
xref: ICDO:8211/3
xref: NCI:C65192
is_a: DOID:299 ! adenocarcinoma
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:4930
name: nasal cavity adenocarcinoma
def: "A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of nasal cavity" EXACT []
synonym: "adenocarcinoma of the nasal cavity" EXACT []
xref: NCI:C6015
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4931 ! nasal cavity carcinoma
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:4931
name: nasal cavity carcinoma
def: "A nasal cavity cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "cancer of nasal cavity" RELATED []
synonym: "carcinoma of nasal cavity" RELATED []
xref: NCI:C9336
is_a: DOID:10811 ! nasal cavity cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-26T00:00:00Z

[Term]
id: DOID:4932
name: ampulla of Vater carcinoma
def: "An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
synonym: "ampullary carcinoma" EXACT []
synonym: "ampulloma" EXACT []
synonym: "carcinoma of ampulla of Vater" EXACT []
synonym: "carcinoma of the ampulla of Vater" EXACT []
xref: EFO:1000079
xref: NCI:C3908
xref: ORDO:300557
is_a: DOID:10020 ! ampulla of Vater cancer
is_a: DOID:4608 ! common bile duct neoplasm
is_a: DOID:4897 ! bile duct carcinoma
is_a: DOID:4907 ! small intestine carcinoma
created_by: slaulederkind
creation_date: 2010-03-19T00:00:00Z

[Term]
id: DOID:4933
name: apocrine carcinoma
def: "An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "apocrine adenocarcinoma" EXACT []
synonym: "apocrine gland carcinoma" EXACT []
synonym: "carcinoma of the apocrine gland" EXACT []
xref: GARD:12138
xref: ICDO:8401/3
xref: NCI:C4169
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4934 ! apocrine sweat gland cancer
is_a: DOID:5667 ! sweat gland carcinoma

[Term]
id: DOID:4934
name: apocrine sweat gland cancer
synonym: "malignant apocrine tumor" EXACT []
xref: NCI:C6800
is_a: DOID:2095 ! sweat gland cancer
is_a: DOID:5876 ! apocrine sweat gland neoplasm
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:4938
name: ureter adenocarcinoma
def: "An ureter carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of ureter" EXACT []
synonym: "ureteral adenocarcinoma" EXACT []
xref: NCI:C6155
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4939 ! ureter carcinoma
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:4939
name: ureter carcinoma
def: "An ureter cancer that is located_in the ureter. (DO)" [http://www.mayoclinic.org/ureter-cancer/ "DO"]
synonym: "ureteral carcinoma" EXACT []
xref: EFO:1000609
xref: NCI:C8993
is_a: DOID:11819 ! ureter cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:4943
name: adenocarcinoma in situ
def: "An in situ carcinoma that derives_from epithelial cells of glandular origin. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/adenocarcinoma-in-situ "DO"]
synonym: "Intraepithelial Adenocarcinoma" EXACT []
synonym: "intraepithelial adenocarcinomas" EXACT []
synonym: "Preinvasive Adenocarcinoma" EXACT []
synonym: "preinvasive adenocarcinomas" EXACT []
xref: ICDO:8140/2
xref: MESH:D065311
xref: NCI:C4123
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:8719 ! in situ carcinoma
is_a: DOID:9002760 ! Morphological and Microscopic Findings

[Term]
id: DOID:4944
name: gastroesophageal junction adenocarcinoma
synonym: "adenocarcinoma of cardioesophageal junction" EXACT []
synonym: "adenocarcinoma of gastroesophageal junction" EXACT []
xref: NCI:C9296
xref: RDO:9002540
is_a: DOID:0080375 ! gastroesophageal adenocarcinoma
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:4947
name: cholangiocarcinoma
def: "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells. (DO)" [http://cancergenome.nih.gov/cancersselected/Cholangiocarcinoma "DO", http://en.wikipedia.org/wiki/Cholangiocarcinoma "DO", http://www.cancer.gov/dictionary?CdrID=335064 "DO"]
synonym: "adult primary cholangiocarcinoma" EXACT []
synonym: "adult primary cholangiocellular carcinoma" EXACT []
synonym: "cholangiocarcinomas" EXACT []
synonym: "Cholangiocellular Carcinoma" EXACT []
synonym: "cholangiocellular carcinomas" EXACT []
synonym: "cholangiosarcoma" EXACT []
xref: EFO:0005221
xref: ICD10CM:C22.1
xref: ICDO:8160/3
xref: MESH:D018281
xref: NCI:C38739
xref: NCI:C4436
xref: NCI:C60372
xref: NCI:C8265
is_a: DOID:4896 ! bile duct adenocarcinoma

[Term]
id: DOID:4948
name: gallbladder carcinoma
def: "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [https://www.mayoclinic.org/diseases-conditions/gallbladder-cancer/symptoms-causes/syc-20353370 "DO"]
synonym: "cancer of the gallbladder" EXACT []
synonym: "carcinoma of gallbladder" EXACT []
xref: EFO:1001956
xref: NCI:C3844
is_a: DOID:305 ! carcinoma
is_a: DOID:3121 ! gallbladder cancer

[Term]
id: DOID:495
name: sclerosing hemangioma
synonym: "sclerosing haemangioma" EXACT []
xref: EFO:1000337
is_a: DOID:255 ! hemangioma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:4952
name: postpoliomyelitis syndrome
def: "A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems. (DO)" [http://en.wikipedia.org/wiki/Postpolio_syndrome "DO", http://www.mayoclinic.com/health/post-polio-syndrome/DS00494/DSECTION=symptoms "DO"]
synonym: "post-poliomyelitis muscular atrophies" EXACT []
synonym: "postpoliomyelitis muscular atrophies" EXACT []
synonym: "Postpoliomyelitis Muscular Atrophy" EXACT []
synonym: "post poliomyelitis muscular atrophy" EXACT []
synonym: "post poliomyelitis syndrome" EXACT []
synonym: "post-polio syndrome" EXACT []
synonym: "postpolio syndrome" EXACT []
synonym: "post-polio syndromes" EXACT []
xref: EFO:0007454
xref: GARD:4454
xref: ICD10CM:G14
xref: MESH:D016262
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:225 ! syndrome
is_a: DOID:4953 ! poliomyelitis
is_a: DOID:913 ! atrophic muscular disease

[Term]
id: DOID:4953
name: poliomyelitis
def: "A viral infectious disease that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis. (DO)" [http://en.wikipedia.org/wiki/Poliomyelitis "DO", http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf "DO", http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms "DO"]
synonym: "acute poliomyelitis" EXACT []
synonym: "epidemic acute poliomyelitis" EXACT []
synonym: "infantile paralysis" EXACT []
synonym: "Nonpoliovirus Poliomyelitis" EXACT []
synonym: "polio" EXACT []
synonym: "polio encephalitis" EXACT []
synonym: "polios" EXACT []
synonym: "preparalytic poliomyelitides" EXACT []
synonym: "preparalytic poliomyelitis" EXACT []
xref: EFO:0007450
xref: GARD:7413
xref: ICD10CM:A80
xref: ICD9CM:045
xref: MESH:D011051
xref: NCI:C35550
is_a: DOID:231 ! motor neuron disease
is_a: DOID:322 ! myelitis
is_a: DOID:9006549 ! Enterovirus Infections

[Term]
id: DOID:4955
name: central nervous system melanocytic neoplasm
def: "A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209706/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10403296 "DO"]
synonym: "central nervous system primary melanocytic lesion" EXACT []
synonym: "melanocytic tumor of the CNS" EXACT [NCI2004_11_17:C5504]
synonym: "primary melanocytic lesion of meninges" NARROW [SNOMEDCT_2005_07_31:277523004]
synonym: "primary melanocytic Lesions of the CNS" EXACT [NCI2004_11_17:C4661]
xref: NCI:C4661
xref: NCI:C5504
is_a: DOID:3620 ! central nervous system cancer

[Term]
id: DOID:4957
name: meninges hemangiopericytoma
synonym: "hemangiopericytoma of meninges" EXACT []
synonym: "meningeal hemangiopericytoma" EXACT []
xref: NCI:C4660
is_a: DOID:264 ! hemangiopericytoma
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:4959
name: epidermolysis bullosa dystrophica
alt_id: MIM:226600
alt_id: OMIA:000341
def: "An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. (DO)" [https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes "DO"]
synonym: "Dystrophic Epidermolysis Bullosa" EXACT []
synonym: "dystrophic epidermolysis bullosa, autosomal recessive" EXACT []
synonym: "dystrophic epidermolysis bullosas" EXACT []
synonym: "EBR1" EXACT []
synonym: "Epidermolysis bullosa dystrophica, AR" EXACT []
synonym: "epidermolysis bullosa dystrophica, AR, epidermolysis bullosa dystrophica, AD" NARROW []
synonym: "Epidermolysis Bullosa Dystrophica, Autosomal Recessive" EXACT []
synonym: "EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT" NARROW []
synonym: "Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type" EXACT []
synonym: "EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE" NARROW []
synonym: "epidermolysis bullosa dystrophica, recessive" EXACT []
synonym: "Hallopeau Siemens disease" EXACT []
synonym: "RDEB" EXACT []
xref: EFO:1000692
xref: GARD:2150
xref: MESH:D016108
xref: NCI:C84691
xref: ORDO:303
is_a: DOID:2730 ! epidermolysis bullosa
is_a: DOID:854 ! collagen disease

[Term]
id: DOID:496
name: spindle cell hemangioma
synonym: "SCH" EXACT []
xref: NCI:C4754
is_a: DOID:255 ! hemangioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:4960
name: bone marrow cancer
def: "A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. (DO)" [http://nci.nih.gov/dictionary/?CdrID=430857 "DO"]
synonym: "malignant bone Marrow tumor" EXACT [NCI2004_11_17:C35501]
synonym: "malignant neoplasm of bone marrow" EXACT []
xref: ICD10CM:D47.1
xref: RDO:9004799
is_a: DOID:2531 ! hematologic cancer
is_a: DOID:9002641 ! Bone Marrow Neoplasms
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:4961
name: bone marrow disease
def: "A hematopoietic system disease that is located_in the bone marrow. (DO)" [https://medlineplus.gov/bonemarrowdiseases.html "DO"]
synonym: "bone marrow diseases" EXACT []
synonym: "bone marrow disorder" EXACT []
synonym: "bone marrow hypocellularity" RELATED []
xref: MESH:D001855
xref: NCI:C34433
is_a: DOID:74 ! hematopoietic system disease

[Term]
id: DOID:4962
name: pericardial tuberculosis
def: "An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23843490/ "DO", https://pubmed.ncbi.nlm.nih.gov/26699941/ "DO", https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"]
synonym: "tuberculous pericarditides" EXACT []
synonym: "tuberculous pericarditis" EXACT []
xref: EFO:0007426
xref: ICD10CM:A18.84
xref: MESH:D010495
is_a: DOID:0050598 ! extrapulmonary tuberculosis
is_a: DOID:0060570 ! cardiac tuberculosis
is_a: DOID:1787 ! pericarditis

[Term]
id: DOID:4964
name: neurotic disorder
def: "An anxiety disorder that involves discress but neither delusions nor hallucinations. (DO)" [http://en.wikipedia.org/wiki/Neurosis "DO"]
synonym: "neuroses" EXACT []
synonym: "neurosis" EXACT []
synonym: "neurotic depression" EXACT []
synonym: "neurotic depression reactive type" EXACT []
synonym: "neurotic depressions" EXACT []
synonym: "neurotic depressive state" EXACT []
synonym: "neurotic disorders" EXACT []
synonym: "psychoneuroses" EXACT []
synonym: "psychoneurosis" EXACT []
synonym: "reactive depression" EXACT []
xref: EFO:0004257
xref: ICD10CM:F34.1
xref: ICD10CM:F48.9
xref: MESH:D009497
xref: NCI:C34533
xref: NCI:C34848
xref: NCI:C35369
is_a: DOID:1596 ! depressive disorder
is_a: DOID:2030 ! anxiety disorder

[Term]
id: DOID:4968
name: Nelson syndrome
def: "A syndrome characterized by HYPERPIGMENTATION, enlarging pituitary mass, visual defects secondary to compression of the OPTIC CHIASM, and elevated serum ACTH. It is caused by the expansion of an underlying ACTH-SECRETING PITUITARY ADENOMA that grows in the absence of feedback inhibition by adrenal CORTICOSTEROIDS, usually after ADRENALECTOMY." [MESH:D009347]
synonym: "Nelson's syndrome" EXACT []
xref: GARD:7170
xref: ICD10CM:E24.1
xref: MESH:D009347
xref: NCI:C84917
is_a: DOID:225 ! syndrome
is_a: DOID:3952 ! adrenal cortex disease
is_a: DOID:7004 ! ACTH-secreting pituitary adenoma

[Term]
id: DOID:4969
name: Gerstmann syndrome
def: "A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. (DO)" [http://en.wikipedia.org/wiki/Gerstmann_syndrome "DO", http://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm "DO"]
synonym: "Acquired Gerstmann's Syndrome" EXACT []
synonym: "Acquired Gerstmann Syndrome" EXACT []
synonym: "aphasia-angular gyrus syndrome" EXACT []
synonym: "Developmental Gerstmann's Syndrome" EXACT []
synonym: "Developmental Gerstmanns Syndrome" EXACT []
synonym: "Developmental Gerstmann Syndrome" EXACT []
synonym: "Finger-Agnosia-Left-Right-Confusion-Acalculia-Agraphia" EXACT []
synonym: "finger-agnosia-left-right-confusion-acalculia-agraphias" EXACT []
synonym: "Gerstmann's Syndrome" EXACT []
synonym: "Gerstmann Badal Syndrome" EXACT []
synonym: "Gerstmann Syndrome 2" EXACT []
synonym: "syndrome de Gerstmann" EXACT []
xref: EFO:0007285
xref: GARD:8660
xref: MESH:D005862
xref: ORDO:221117
is_a: DOID:225 ! syndrome
is_a: DOID:4090 ! agnosia
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:4970
name: prosopagnosia
def: "An agnosia that results in the loss of the ability to consciously recognize familiar faces. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"]
synonym: "Acquired Prosopagnosia" EXACT []
synonym: "acquired prosopagnosias" EXACT []
synonym: "Agnosia for Face" EXACT []
synonym: "Agnosia for Faces" EXACT []
synonym: "Developmental Prosopagnosia" EXACT []
synonym: "Developmental Prosopagnosias" EXACT []
synonym: "facial recognition agnosia" EXACT []
synonym: "facial recognition agnosias" EXACT []
synonym: "prosopagnosias" EXACT []
xref: ICD10CM:R48.3
xref: MESH:D020238
xref: NCI:C85031
is_a: DOID:4090 ! agnosia

[Term]
id: DOID:4971
name: myelofibrosis
alt_id: MIM:254450
def: "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue. (DO)" [http://en.wikipedia.org/wiki/Myelofibrosis "DO"]
synonym: "Agnogenic Myeloid Metaplasia" EXACT []
synonym: "agnogenic myeloid metaplasias" EXACT []
synonym: "aleukemic myelosis" EXACT []
synonym: "bone marrow fibroses" EXACT []
synonym: "Bone Marrow Fibrosis" EXACT []
synonym: "Chronic Idiopathic Myelofibrosis" EXACT []
synonym: "CIMF" EXACT []
synonym: "Idiopathic Myelofibrosis" EXACT []
synonym: "megakaryocytic myelosclerosis" EXACT []
synonym: "MMM" NARROW []
synonym: "Myelofibroses" EXACT []
synonym: "MYELOFIBROSIS, SOMATIC" EXACT []
synonym: "MYELOFIBROSIS WITH MYELOID METAPLASIA" NARROW []
synonym: "Myeloid Metaplasia" EXACT []
synonym: "Myeloid Metaplasias" EXACT []
synonym: "Myeloscleroses" EXACT []
synonym: "Myelosclerosis" EXACT []
synonym: "Nonleukemic Myeloses" EXACT []
synonym: "nonleukemic myelosis" EXACT []
synonym: "prefibrotic primary myelofibrosis" NARROW []
synonym: "primary myelofibroses" EXACT []
synonym: "primary myelofibrosis" EXACT []
xref: EFO:0002430
xref: GARD:8618
xref: ICD10CM:D47.4
xref: ICD10CM:D75.81
xref: ICD9CM:238.76
xref: ICD9CM:289.83
xref: MESH:D055728
xref: NCI:C2862
xref: NCI:C3248
xref: ORDO:824
is_a: DOID:0070004 ! myeloid neoplasm

[Term]
id: DOID:4972
name: myelodysplastic/myeloproliferative neoplasm
def: "A myeloid neoplasm that results_in the overproduction of white blood cells. (DO)" [http://www.bloodjournal.org/content/114/5/937.long "DO", http://www.bloodjournal.org/content/127/20/2391 "DO", http://www.bloodjournal.org/content/128/3/462 "DO", https://www.cancer.gov/types/myeloproliferative/patient/mds-mpd-treatment-pdq "DO"]
synonym: "MDS/MPN" EXACT []
synonym: "myelodysplastic myeloproliferative cancer" EXACT []
synonym: "Myelodysplastic-Myeloproliferative Disease" EXACT []
synonym: "Myelodysplastic-Myeloproliferative Diseases" EXACT []
synonym: "myelodysplastic syndrome/myeloproliferative neoplasm" EXACT []
synonym: "myeloproliferative/myelodysplastic syndromes" EXACT []
synonym: "Myeloproliferative-Myelodisplastic Disease" EXACT []
synonym: "Myeloproliferative Myelodisplastic Diseases" EXACT []
xref: EFO:1000388
xref: MESH:D054437
xref: NCI:C27262
is_a: DOID:0070004 ! myeloid neoplasm
is_a: DOID:4961 ! bone marrow disease

[Term]
id: DOID:4974
name: actinobacillosis
def: "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media. (DO)" [http://www.sciencedirect.com/science/article/pii/073646799500066J "DO", https://www.merckvetmanual.com/generalized-conditions/actinobacillosis/actinobacillosis "DO"]
synonym: "Actinobacilloses" EXACT []
xref: EFO:0007127
xref: MESH:D000187
is_a: DOID:0050339 ! commensal bacterial infectious disease
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:9004985 ! Animal Diseases
is_a: DOID:9007041 ! Actinobacillus Infections

[Term]
id: DOID:4976
name: elephantiasis
def: "Hypertrophy and thickening of tissues from causes other than filarial infection, the latter being described as ELEPHANTIASIS, FILARIAL." [MESH:D004604]
synonym: "Bigfoot Disease" EXACT []
synonym: "bigfoot diseases" EXACT []
synonym: "elephantiases" EXACT []
synonym: "Elephantiasis Nostras Verrucosa" EXACT []
synonym: "endemic elephantiases" EXACT []
synonym: "Endemic Elephantiasis" EXACT []
synonym: "Endemic Non-Filarial Elephantiases" EXACT []
synonym: "Endemic Non Filarial Elephantiasis" EXACT []
synonym: "Lymphostatic Verrucoses" EXACT []
synonym: "lymphostatic verrucosis" EXACT []
synonym: "microcrystal disease" EXACT []
synonym: "microcrystal diseases" EXACT []
xref: EFO:0004711
xref: MESH:D004604
xref: NCI:C34569
is_a: DOID:4977 ! lymphedema

[Term]
id: DOID:4977
name: lymphedema
def: "Edema due to obstruction of lymph vessels or disorders of the lymph nodes." [MESH:D008209]
synonym: "Early Onset Lymphedema" EXACT []
synonym: "early onset lymphedemas" EXACT []
synonym: "lymphatic edema" EXACT []
synonym: "Lymphedemas" EXACT []
synonym: "lymphoedema" EXACT []
synonym: "Nonne Milroy Disease" EXACT []
synonym: "Nonne Milroy lymphedema" EXACT []
synonym: "Nonne Milroy Meige disease" EXACT []
synonym: "primary lymphedema" EXACT []
xref: MESH:D008209
xref: NCI:C3207
is_a: DOID:75 ! lymphatic system disease

[Term]
id: DOID:4985
name: extraosseous Ewings sarcoma-primitive neuroepithelial tumor
synonym: "extraosseous Ewing's tumor" EXACT []
synonym: "extraosseous Ewing's tumour" EXACT []
synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumour" EXACT []
synonym: "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT []
xref: EFO:1000250
xref: NCI:C7135
is_a: DOID:4232 ! extraosseous Ewing sarcoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:4986
name: nonparalytic poliomyelitis
def: "A poliomyelitis that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, and has symptom muscle spasms. (DO)" [https://www.mayoclinic.org/diseases-conditions/polio/symptoms-causes/syc-20376512 "DO"]
synonym: "acute nonparalytic poliomyelitis" EXACT []
synonym: "non-paralytic aseptic meningitis" EXACT []
xref: ICD10CM:A80.4
xref: ICD9CM:045.2
xref: RDO:9003483
is_a: DOID:231 ! motor neuron disease
is_a: DOID:4953 ! poliomyelitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:4988
name: alcoholic pancreatitis
def: "Acute or chronic INFLAMMATION of the PANCREAS due to excessive ALCOHOL DRINKING. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." [MESH:D019512]
xref: EFO:1002013
xref: MESH:D019512
is_a: DOID:4989 ! pancreatitis
is_a: DOID:9004354 ! Alcohol-Related Disorders

[Term]
id: DOID:4989
name: pancreatitis
def: "A pancreas disease that is characterized by inflammation of the pancreas. (DO)" [https://medlineplus.gov/pancreatitis.html "DO"]
synonym: "aggressive insulitis" NARROW []
synonym: "benign insulitis" NARROW []
synonym: "non-alcoholic pancreatitis" NARROW []
synonym: "pancreatitides" EXACT []
synonym: "RECURRENT PANCREATITIS" NARROW []
synonym: "thiopurine immunosuppressant-induced pancreatitis" NARROW []
xref: EFO:0000278
xref: EFO:0002498
xref: EFO:0002502
xref: EFO:0006315
xref: EFO:0021524
xref: ICD10CM:K85.9
xref: MESH:D010195
xref: NCI:C3306
is_a: DOID:26 ! pancreas disease
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:4990
name: essential tremor
def: "A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. (DO)" [http://en.wikipedia.org/wiki/Essential_tremor "DO", http://ghr.nlm.nih.gov/condition/essential-tremor "DO"]
synonym: "benign essential tremor" EXACT []
synonym: "benign essential tremors" EXACT []
synonym: "essential tremors" EXACT []
synonym: "ESSENTIAL TREMOR, SUSCEPTIBILITY TO" RELATED []
synonym: "familial tremor" EXACT []
synonym: "familial tremors" EXACT []
synonym: "hereditary essential tremor" EXACT []
synonym: "shaky hand syndrome" EXACT []
xref: EFO:0003108
xref: GARD:5910
xref: ICD10CM:G25.0
xref: MESH:D020329
xref: MIM:PS190300
xref: NCI:C182453
is_a: DOID:9000495 ! Tremor

[Term]
id: DOID:4991
name: optic nerve astrocytoma
synonym: "astrocytic tumor of optic nerve" EXACT []
synonym: "optic tract astrocytoma" EXACT []
xref: NCI:C6769
xref: NCI:C7533
is_a: DOID:3069 ! malignant astrocytoma
is_a: DOID:4992 ! optic nerve glioma

[Term]
id: DOID:4992
name: optic nerve glioma
def: "Glial cell derived tumors arising from the optic nerve, usually presenting in childhood." [MESH:D020339]
synonym: "glioma of the optic nerve" EXACT []
synonym: "Optic Glioma" EXACT []
synonym: "optic gliomas" EXACT []
synonym: "optic nerve gliomas" EXACT []
xref: EFO:0009254
xref: GARD:4107
xref: MESH:D020339
xref: NCI:C4537
is_a: DOID:0060108 ! brain glioma
is_a: DOID:3419 ! optic nerve neoplasm

[Term]
id: DOID:4993
name: atypical polypoid adenomyoma
def: "An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm. (DO)" [http://www.pathologyoutlines.com/topic/uterusapa.html "DO"]
xref: NCI:C6895
is_a: DOID:2609 ! adenomyoma

[Term]
id: DOID:4994
name: adenomyoma of uterine corpus
def: "A uterine benign neoplasm that has_material_basis_in gland and muscle components. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16990713 "DO"]
synonym: "adenomyoma of corpus uteri" EXACT []
synonym: "uterine corpus adenomyoma" EXACT []
xref: MONDO:0003237
xref: NCI:C6338
is_a: DOID:0060095 ! uterine benign neoplasm
is_a: DOID:2609 ! adenomyoma
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:4995
name: cervical adenomyoma
def: "A cervical benign neoplasm that has_material_basis_in gland and muscle components. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24582628 "DO"]
xref: NCI:C40231
is_a: DOID:0060110 ! cervical benign neoplasm
is_a: DOID:2609 ! adenomyoma

[Term]
id: DOID:4997
name: Camurati-Engelmann disease
alt_id: MIM:131300
def: "An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. (DO)" [http://en.wikipedia.org/wiki/Camurati-Engelmann_disease "DO", http://ghr.nlm.nih.gov/condition/camurati-engelmann-disease "DO", http://www.ncbi.nlm.nih.gov/books/NBK1156/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1328 "DO", http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Camurati-Engelmann%20Disease "DO"]
synonym: "CAEND" EXACT []
synonym: "Camurati-Engelmann syndrome" EXACT []
synonym: "CED" EXACT []
synonym: "diaphyseal dysplasia" EXACT []
synonym: "diaphyseal hyperostosis" EXACT []
synonym: "Engelman's disease" EXACT []
synonym: "Engelmann's disease" EXACT []
synonym: "Engelmann disease" EXACT []
synonym: "PDD" EXACT []
synonym: "progressive diaphyseal dysplasia" EXACT []
synonym: "progressive diaphyseal dysplasias" EXACT []
xref: GARD:1072
xref: ICD10CM:Q78.3
xref: MESH:D003966
xref: NCI:C84610
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:4998
name: trichorhinophalangeal syndrome type II
alt_id: MIM:150230
def: "A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. (DO)" [http://en.wikipedia.org/wiki/Langer-Giedion_syndrome "DO", http://ghr.nlm.nih.gov/condition/langer-giedion-syndrome "DO", http://www.healthline.com/galecontent/langer-giedion-syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract "DO"]
synonym: "acrodysplasia V" EXACT []
synonym: "chromosome 8q24.1 deletion syndrome" EXACT []
synonym: "Langer-Giedion syndrome" EXACT []
synonym: "LGS" EXACT []
synonym: "trichorhinophalangeal dysplasia type II" EXACT []
synonym: "trichorhinophalangeal syndrome type 2" EXACT []
synonym: "tricho rhino phalangeal syndrome type II" EXACT []
synonym: "trichorhinophalangeal syndrome with exostoses" EXACT []
synonym: "TRPS2" EXACT []
synonym: "TRPSII" EXACT []
xref: GARD:7801
xref: MESH:D015826
xref: NCI:C75118
xref: ORDO:502
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9005517 ! Trichorhinophalangeal Syndrome

[Term]
id: DOID:50
name: thyroid gland disease
def: "An endocrine system disease that is located_in the thyroid. (DO)" [http://en.wikipedia.org/wiki/Thyroid "DO"]
synonym: "ABNORMAL CIRCULATING THYROID HORMONE CONCENTRATION" RELATED []
synonym: "ABNORMAL THYROID HORMONE LEVEL" RELATED []
synonym: "Thyroid Disease" EXACT []
synonym: "Thyroid Diseases" EXACT []
xref: EFO:1000627
xref: ICD10CM:E07.9
xref: ICD9CM:246.9
xref: MESH:D013959
xref: MIM:PS609698
xref: MP:0005468
xref: NCI:C26893
is_a: DOID:28 ! endocrine system disease

[Term]
id: DOID:5003
name: eunuchism
def: "A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones. (DO)" [http://www.nlm.nih.gov/cgi/mesh/2011/MB_cgi?exact&field=uid&term=D005058 "DO"]
synonym: "eunuchoidism" EXACT []
synonym: "male hypogonadism" EXACT []
xref: EFO:0007266
xref: MESH:D005058
is_a: DOID:1924 ! hypogonadism

[Term]
id: DOID:501
name: central nervous system hemangioma
synonym: "hemangioma of CNS" EXACT []
xref: NCI:C7004
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:255 ! hemangioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5015
name: fibrolamellar carcinoma
def: "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers. (DO)" [http://www.nejm.org/doi/full/10.1056/NEJMra1001683 "DO", https://en.wikipedia.org/wiki/Fibrolamellar_hepatocellular_carcinoma "DO"]
synonym: "Fibrolamellar Hepatocellular Carcinoma" EXACT []
synonym: "fibrolamellar variant of hepatocellular carcinoma" EXACT []
synonym: "hepatocellular carcinoma (fibrolamellar variant)" EXACT []
synonym: "oncocytic hepatocellular tumor" EXACT []
xref: EFO:1000256
xref: MESH:C537258
xref: NCI:C4131
xref: ORDO:401920
is_a: DOID:684 ! hepatocellular carcinoma

[Term]
id: DOID:5016
name: hepatocellular clear cell carcinoma
synonym: "clear cell carcinoma of the liver cells" EXACT []
synonym: "hepatocellular carcinoma, clear cell type" EXACT []
xref: ICDO:8174/3
xref: NCI:C5754
is_a: DOID:684 ! hepatocellular carcinoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:502
name: central nervous system mesenchymal non-meningothelial tumor
def: "A central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1669699 "DO", https://www.sciencedirect.com/science/article/pii/B978032344941000014X "DO"]
synonym: "central nervous system mesenchymal non-meningothelial tumour" EXACT []
synonym: "non-meningothelial mesenchymal tumor" EXACT []
synonym: "non-meningothelial mesenchymal tumour" EXACT []
is_a: DOID:3620 ! central nervous system cancer
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5022
name: aflatoxins-related hepatocellular carcinoma
def: "A hepatocellular carcinoma that develops following exposure to aflatoxin." [NCI:C27922]
xref: NCI:C27922
is_a: DOID:684 ! hepatocellular carcinoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:5026
name: sclerosing hepatic carcinoma
synonym: "sclerosing hepatocellular carcinoma" EXACT []
xref: NCI:C27388
is_a: DOID:684 ! hepatocellular carcinoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:5030
name: pineal parenchymal tumor of intermediate differentiation
synonym: "pineal parenchymal tumour of intermediate differentiation" EXACT []
xref: EFO:1000474
xref: ICDO:9362/3
xref: NCI:C6967
is_a: DOID:0081248 ! pineocytoma
is_a: DOID:1664 ! pineoblastoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5031
name: adult pineal parenchymal tumor
synonym: "adult Pineal Parenchymal neoplasm" EXACT [NCI2004_11_17:C8273]
xref: NCI:C8273
is_a: DOID:5032 ! pineal gland cancer

[Term]
id: DOID:5032
name: pineal gland cancer
def: "An endocrine gland located_in the pineal gland located in the brain. (DO)" [http://en.wikipedia.org/wiki/Pineal_gland "DO"]
synonym: "malignant pineal region tumor" EXACT []
synonym: "malignant tumor of pineal gland" EXACT []
synonym: "neoplasm of pineal gland" EXACT []
synonym: "neoplasm of the pineal region" EXACT []
synonym: "pineal body neoplasm" EXACT []
synonym: "pineocytic tumor" EXACT []
xref: ICD10CM:C75.3
xref: ICD9CM:194.4
xref: NCI:C3328
xref: NCI:C3573
xref: NCI:C6965
is_a: DOID:0081248 ! pineocytoma
is_a: DOID:170 ! endocrine gland cancer

[Term]
id: DOID:5039
name: myoblastoma
synonym: "benign granular cell tumor" EXACT []
synonym: "myoblastomas" EXACT []
xref: NCI:C3252
is_a: DOID:461 ! muscle benign neoplasm
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:5040
name: malignant granular cell esophageal tumor
synonym: "granular cell tumor of esophagus" EXACT []
synonym: "granular cell tumour of oesophagus" EXACT []
synonym: "malignant granular cell esophageal tumour" EXACT []
xref: NCI:C5700
xref: RDO:9002313
is_a: DOID:5041 ! esophageal cancer
is_a: DOID:9008863 ! Malignant Granular Cell Tumor
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:5041
name: esophageal cancer
def: "A gastrointestinal system cancer that is located_in the esophagus. (DO)" [http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer "DO", http://en.wikipedia.org/wiki/Esophagus "DO"]
synonym: "Ca lower third oesophagus" NARROW []
synonym: "Ca middle third oesophagus" NARROW []
synonym: "ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO" RELATED []
synonym: "esophagus cancer" EXACT []
synonym: "malignant neoplasm of distal third of esophagus" EXACT []
synonym: "malignant neoplasm of lower third of oesophagus" EXACT []
synonym: "malignant neoplasm of middle third of oesophagus" EXACT []
synonym: "malignant neoplasm of proximal third of esophagus" EXACT []
synonym: "malignant neoplasm of upper third esophagus" EXACT []
synonym: "malignant tumor of abdominal esophagus" EXACT []
synonym: "malignant tumor of distal third of esophagus" EXACT []
synonym: "malignant tumor of proximal third of esophagus" EXACT []
synonym: "malignant tumor of the middle third of the esophagus" EXACT []
xref: GARD:6383
xref: ICD10CM:C15.3
xref: ICD10CM:C15.4
xref: ICD10CM:C15.5
xref: ICD9CM:150.2
xref: ICD9CM:150.3
xref: ICD9CM:150.4
xref: ICD9CM:150.5
xref: ICD9CM:150.8
xref: NCI:C3028
xref: NCI:C3533
xref: NCI:C3534
xref: NCI:C3535
xref: NCI:C4764
is_a: DOID:3119 ! gastrointestinal system cancer
is_a: DOID:9000117 ! Esophageal Neoplasms
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:5042
name: malignant granular cell myoblastoma
synonym: "malignant granular cell neoplasm" EXACT [NCI2004_11_17:C4336]
xref: NCI:C4336
xref: RDO:9003033
is_a: DOID:4159 ! skin cancer
is_a: DOID:9008863 ! Malignant Granular Cell Tumor
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5043
name: vulvar granular cell tumor
def: "A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei. (DO)" [https://en.wikipedia.org/wiki/Granular_cell_tumor "DO", https://www.ncbi.nlm.nih.gov/pubmed/24303488 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27510686 "DO"]
xref: NCI:C40328
is_a: DOID:0060109 ! vulvar benign neoplasm

[Term]
id: DOID:5044
name: cardiac granular cell neoplasm
synonym: "granular cell tumor of Heart" EXACT [NCI2004_11_17:C5360]
xref: NCI:C5360
xref: RDO:9002670
is_a: DOID:0060091 ! cardiovascular organ benign neoplasm
is_a: DOID:2411 ! granular cell tumor
is_a: DOID:9006547 ! Heart Neoplasms
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:5046
name: mediastinal granular cell myoblastoma
synonym: "granular cell tumor of mediastinum" EXACT []
xref: NCI:C6601
is_a: DOID:2411 ! granular cell tumor
is_a: DOID:4159 ! skin cancer
is_a: DOID:6175 ! mediastinal neurilemmoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5047
name: granular cell tumor of the sellar region
def: "A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32926559/ "DO"]
synonym: "neurohypophysis granular cell tumor" EXACT []
xref: EFO:1000285
xref: NCI:C7017
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:0060094 ! bone benign neoplasm
is_a: DOID:170 ! endocrine gland cancer
is_a: DOID:2411 ! granular cell tumor
is_a: DOID:3488 ! cellulitis
is_a: DOID:4159 ! skin cancer
is_a: DOID:5048 ! posterior pituitary gland neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5048
name: posterior pituitary gland neoplasm
def: "A pituitary gland benign neoplasm that arises from the neurohypophysis. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33709954/ "DO"]
synonym: "posterior pituitary tumor" EXACT []
xref: NCI:C7157
is_a: DOID:3643 ! sella turcica neoplasm
is_a: DOID:60009 ! pituitary gland benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:505
name: hobnail hemangioma
xref: RDO:9004256
is_a: DOID:255 ! hemangioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5050
name: Ehrlich tumor carcinoma
def: "A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." [MESH:D002286]
synonym: "Ehrlich's tumor" EXACT []
synonym: "Ehrlich's tumour" EXACT []
synonym: "Ehrlich Ascites Tumor" EXACT []
synonym: "Ehrlich tumour carcinoma" EXACT []
xref: EFO:1000913
xref: MESH:D002286
is_a: DOID:305 ! carcinoma
is_a: DOID:3459 ! breast carcinoma
is_a: DOID:9002170 ! Experimental Neoplasms

[Term]
id: DOID:5052
name: melioidosis
alt_id: MIM:615557
def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain. (DO)" [http://www.cdc.gov/melioidosis/symptoms/index.html "DO"]
synonym: "acute and fulminating melioidosis" EXACT []
synonym: "melioidoses" EXACT []
synonym: "melioidosis, resistance to" RELATED []
synonym: "melioidosis, susceptibility to" RELATED []
synonym: "Nightcliff gardener's disease" EXACT []
synonym: "pseudoglanders" EXACT []
synonym: "subacute and chronic melioidosis" EXACT []
synonym: "Whitmore's disease" EXACT []
xref: GARD:9546
xref: ICD10CM:A24.9
xref: ICD9CM:025
xref: MESH:D008554
xref: NCI:C128336
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9000739 ! Burkholderia Infections

[Term]
id: DOID:5056
name: adult cerebellar neoplasm
synonym: "tumor of adult Cerebellum" EXACT [NCI2004_11_17:C5968]
xref: NCI:C5968
is_a: DOID:4205 ! cerebellum cancer

[Term]
id: DOID:5057
name: papillary meningioma of the cerebellum
synonym: "papillary meningioma of cerebellum" EXACT []
xref: NCI:C5270
is_a: DOID:0060106 ! brain meningioma
is_a: DOID:4205 ! cerebellum cancer
is_a: DOID:5058 ! rhabdoid meningioma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5058
name: rhabdoid meningioma
synonym: "papillary meningioma" EXACT []
xref: EFO:1000449
xref: EFO:1000511
xref: NCI:C6909
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5059
name: childhood cerebellar neoplasm
synonym: "pediatric tumor of cerebellum" EXACT []
xref: NCI:C5970
is_a: DOID:4205 ! cerebellum cancer

[Term]
id: DOID:5062
name: phencyclidine abuse
def: "A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Phencyclidine "DO"]
synonym: "Angel Dust Abuse" EXACT []
synonym: "PCP abuse" EXACT []
synonym: "phencyclidine abuses" EXACT []
synonym: "phencyclidine-related disorder" EXACT []
synonym: "phencyclidine-related disorders" EXACT []
synonym: "phencyclidine use disorder" EXACT []
xref: EFO:0007436
xref: MESH:D010623
is_a: DOID:302 ! substance abuse
is_a: DOID:303 ! substance-related disorder

[Term]
id: DOID:5063
name: basosquamous carcinoma
def: "A skin carcinoma that histologically exhibits both basal and squamous elements. (From Dorland, 27th ed)" [MESH:D002281]
synonym: "Basisquamous cell carcinoma" EXACT [SNOMEDCT_2005_07_31:37304002]
synonym: "Basosquamous Carcinomas" EXACT []
synonym: "basosquamous cell carcinoma" EXACT [CSP2005:2000-2932]
synonym: "Metatypical carcinoma" EXACT [SNOMEDCT_2005_07_31:6641007]
xref: EFO:1000529
xref: ICDO:8094/3
xref: MESH:D002281
xref: NCI:C2922
xref: RDO:0005116
is_a: DOID:2513 ! basal cell carcinoma
is_a: DOID:305 ! carcinoma
is_a: DOID:9003929 ! Basal Cell Neoplasms

[Term]
id: DOID:507
name: adjustment disorder
def: "A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred. (DO)" [http://en.wikipedia.org/wiki/Adjustment_disorder "DO", http://www.mayoclinic.org/diseases-conditions/adjustment-disorders/basics/definition/con-20031704 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000932.htm "DO"]
synonym: "adjustment disease" EXACT []
synonym: "adjustment disorders" EXACT []
synonym: "adjustment reaction" EXACT []
synonym: "Anniversary Reaction" EXACT []
synonym: "anniversary reactions" EXACT []
synonym: "Reactive Depression" EXACT []
synonym: "Reactive Depressions" EXACT []
synonym: "Reactive Disorder" EXACT []
synonym: "Reactive Disorders" EXACT []
synonym: "Transient Situational Disturbance" EXACT []
synonym: "transient situational disturbances" EXACT []
xref: ICD9CM:309
xref: MESH:D000275
is_a: DOID:150 ! disease of mental health
is_a: DOID:9004763 ! Trauma and Stressor Related Disorders

[Term]
id: DOID:5074
name: high grade ependymoma
def: "A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain. (DO)" [http://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors "DO"]
synonym: "ependymal neoplasm" EXACT []
synonym: "ependymal tumors" EXACT []
synonym: "malignant ependymoma" EXACT []
xref: NCI:C6770
is_a: DOID:305 ! carcinoma
is_a: DOID:3541 ! cerebral ventricle cancer
is_a: DOID:9005834 ! Ependymomas
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:5075
name: myxopapillary ependymoma
xref: GARD:10633
xref: ICDO:9394/1
xref: NCI:C3697
is_a: DOID:4844 ! benign ependymoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5076
name: mixed glioma
synonym: "mixed gliomas" EXACT []
synonym: "mixed neuroglial tumor" EXACT []
xref: NCI:C3903
is_a: DOID:3070 ! high grade glioma
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:5077
name: subependymal giant cell astrocytoma
synonym: "SEGA" EXACT []
xref: GARD:10632
xref: ICDO:9384/1
xref: NCI:C3696
is_a: DOID:4843 ! subependymal glioma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:5078
name: ganglioglioma
def: "A cell type benign neoplasm that has_material_basis_in glial-type cells. (DO)" [http://en.wikipedia.org/wiki/Ganglioglioma "DO", http://www.stjude.org/stjude/v/index.jsp?vgnextoid=7e0d061585f70110VgnVCM1000001e0215acRCRD "DO"]
synonym: "adult ganglioglioma" EXACT []
synonym: "Benign Ganglioglioma" EXACT []
synonym: "benign gangliogliomas" EXACT []
synonym: "childhood ganglioglioma" EXACT []
synonym: "CNS ganglioglioma" EXACT []
synonym: "gangliogliomas" EXACT []
synonym: "Intracranial Ganglioglioma" EXACT []
synonym: "Intracranial Gangliogliomas" EXACT []
synonym: "malignant ganglioglioma" EXACT []
synonym: "malignant gangliogliomas" EXACT []
xref: EFO:0003094
xref: GARD:2430
xref: ICDO:9505/1
xref: MESH:D018303
xref: NCI:C27362
xref: NCI:C27363
xref: NCI:C3788
xref: ORDO:251949
is_a: DOID:0080829 ! low grade glioma

[Term]
id: DOID:5082
name: liver cirrhosis
def: "Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." [MESH:D008103]
synonym: "cirrhosis" EXACT []
synonym: "cirrhosis of liver" EXACT []
synonym: "hepatic cirrhoses" EXACT []
synonym: "Hepatic Cirrhosis" EXACT []
synonym: "Hepatic Fibrosis" EXACT []
synonym: "liver cirrhoses" EXACT []
synonym: "liver fibroses" EXACT []
synonym: "liver fibrosis" EXACT []
xref: EFO:0001422
xref: ICD10CM:K74.60
xref: MESH:D008103
xref: NCI:C2951
is_a: DOID:409 ! liver disease
is_a: DOID:9000784 ! Fibrosis

[Term]
id: DOID:5083
name: iodine hypothyroidism
xref: EFO:0008614
xref: ICD9CM:244.2
is_a: DOID:1459 ! hypothyroidism
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5088
name: mixed epithelial stromal tumour
xref: NCI:C37265
is_a: DOID:154 ! mixed cell type cancer

[Term]
id: DOID:5090
name: sternum cancer
def: "A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum. (DO)" [http://www.cancer.gov/dictionary/?CdrID=482347 "DO"]
synonym: "malignant sternal neoplasm" EXACT []
synonym: "malignant sternal tumor" EXACT []
synonym: "neoplasm of sternum" RELATED []
synonym: "sternal tumor" EXACT []
xref: NCI:C6730
xref: NCI:C8408
is_a: DOID:184 ! bone cancer
is_a: DOID:5093 ! thoracic cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5093
name: thoracic cancer
def: "An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. (DO)" [https://radonc.ucsf.edu/thoracic-cancers "DO"]
synonym: "thorax cancer" EXACT []
xref: ICD10CM:C76.1
xref: ICD9CM:195.1
xref: NCI:C3406
xref: NCI:C3576
is_a: DOID:0050686 ! organ system cancer
is_a: DOID:9007920 ! Thoracic Neoplasms
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5099
name: middle ear cancer
def: "An ear cancer that is located_in the middle ear. (DO)" [http://my.clevelandclinic.org/services/head-neck/diseases-conditions/tumors "DO"]
synonym: "neoplasm of middle ear" EXACT []
synonym: "tumor of the middle ear" EXACT []
xref: NCI:C4412
is_a: DOID:5100 ! middle ear disease
is_a: DOID:5101 ! ear cancer
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:5100
name: middle ear disease
xref: NCI:C27065
is_a: DOID:2742 ! auditory system disease

[Term]
id: DOID:5101
name: ear cancer
synonym: "auricular cancer" EXACT []
synonym: "auricular cancers" EXACT []
synonym: "malignant ear neoplasm" EXACT []
synonym: "malignant tumor of ear" EXACT []
xref: NCI:C9337
is_a: DOID:833 ! auditory system cancer
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:5102
name: inner ear cancer
def: "An ear cancer located_in the inner ear. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C39784&key=1800983797&b=1&n=null "DO"]
xref: NCI:C39784
is_a: DOID:2952 ! inner ear disease
is_a: DOID:5101 ! ear cancer
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:5104
name: testicular infarct
synonym: "infarction of testis" EXACT []
synonym: "testicular infarction" EXACT []
xref: NCI:C27617
is_a: DOID:2519 ! testicular disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5112
name: copper deficiency myelopathy
def: "A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4612215/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/17036563 "DO"]
synonym: "Enzootic Ataxia" EXACT []
synonym: "Enzootic Ataxias" EXACT []
synonym: "human swayback" EXACT []
synonym: "swayback" EXACT []
synonym: "swayback of sheep" EXACT []
xref: MESH:D013540
is_a: DOID:5113 ! nutritional deficiency disease
is_a: DOID:9006097 ! Sheep Diseases

[Term]
id: DOID:5113
name: nutritional deficiency disease
def: "A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. (DO)" [https://medlineplus.gov/malnutrition.html "DO"]
synonym: "deficiency disease" EXACT []
synonym: "deficiency diseases" EXACT []
xref: EFO:1001067
xref: MESH:D003677
is_a: DOID:9005695 ! Malnutrition

[Term]
id: DOID:5117
name: dermoid cyst of ovary
alt_id: MIM:166950
def: "A dermoid cyst that is located_in the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24056662 "DO"]
synonym: "dermoid cyst" EXACT []
synonym: "ovarian dermoid cyst" EXACT []
synonym: "ovarian teratoma" EXACT []
xref: MESH:C562731
xref: NCI:C3856
is_a: DOID:0060112 ! ovarian benign neoplasm
is_a: DOID:2658 ! dermoid cyst

[Term]
id: DOID:5118
name: ovarian cystic teratoma
def: "A cystic teratoma that is located_in the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22902841 "DO"]
xref: NCI:C7283
is_a: DOID:2660 ! cystic teratoma
is_a: DOID:6231 ! mature teratoma of the ovary
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5119
name: ovarian cyst
def: "An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary. (DO)" [https://en.wikipedia.org/wiki/Ovarian_cyst "DO"]
synonym: "ovarian cysts" EXACT []
xref: ICD10CM:N83.2
xref: ICD9CM:620.2
xref: MESH:D010048
is_a: DOID:1100 ! ovarian disease
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:512
name: epididymal neoplasm
synonym: "neoplasm of epididymis" EXACT []
xref: NCI:C39958
is_a: DOID:2998 ! testicular cancer
is_a: DOID:9004207 ! Testicular Neoplasms
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5123
name: mediastinum leiomyoma
def: "A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740108/ "DO"]
synonym: "leiomyoma of mediastinum" EXACT []
xref: NCI:C6598
is_a: DOID:0060097 ! thoracic benign neoplasm
is_a: DOID:127 ! leiomyoma
is_a: DOID:9008299 ! Mediastinal Neoplasms
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5124
name: fallopian tube leiomyoma
def: "A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137476/ "DO"]
xref: NCI:C40127
is_a: DOID:0060111 ! fallopian tube benign neoplasm
is_a: DOID:127 ! leiomyoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5125
name: extrahepatic bile duct leiomyoma
def: "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11896229 "DO"]
synonym: "leiomyoma of the extrahepatic bile duct" EXACT [NCI2004_11_17:C5855]
xref: NCI:C5855
xref: RDO:9003385
is_a: DOID:0050625 ! biliary tract benign neoplasm
is_a: DOID:127 ! leiomyoma
is_a: DOID:9002936 ! Bile Duct Neoplasms
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5126
name: central nervous system leiomyoma
def: "A central nervous system benign neoplasm that derives_from smooth muscle cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30725665/ "DO"]
synonym: "leiomyoma of CNS" EXACT []
xref: NCI:C6998
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:127 ! leiomyoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5127
name: bizarre leiomyoma
def: "A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures. (DO)" [http://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html "DO"]
synonym: "Atypical leiomyoma" EXACT []
synonym: "Pleomorphic leiomyoma" EXACT []
synonym: "Symplastic leiomyoma" EXACT []
xref: ICDO:8893/0
xref: NCI:C4257
is_a: DOID:127 ! leiomyoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5128
name: deep leiomyoma
def: "A leiomyoma that is located_in deep soft tissue. (DO)" [http://surgpathcriteria.stanford.edu/softsmoothmuscle/soft_tissue_leiomyoma/differentialdiagnosis.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/27186256 "DO"]
xref: NCI:C6512
is_a: DOID:127 ! leiomyoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5129
name: simple partial epilepsy
synonym: "simple partial epilepsies" EXACT []
synonym: "simple partial seizures" EXACT []
xref: ICD9CM:345.51
is_a: DOID:2234 ! focal epilepsy
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:5132
name: leiomyoma cutis
synonym: "cutaneous leiomyoma" EXACT []
synonym: "leiomyoma of the skin" EXACT []
synonym: "MULTIPLE CUTANEOUS LEIOMYOMAS" NARROW []
xref: NCI:C4482
is_a: DOID:127 ! leiomyoma
is_a: DOID:2438 ! dermis tumor
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5134
name: anus leiomyoma
def: "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9187805 "DO"]
synonym: "leiomyoma of anus" EXACT []
xref: NCI:C5608
is_a: DOID:127 ! leiomyoma
is_a: DOID:5545 ! anal neuroendocrine tumor
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5136
name: lung leiomyoma
def: "A lung benign neoplasm that derives_from some smooth muscle cell. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26941368 "DO"]
synonym: "pulmonary leiomyoma" EXACT []
xref: NCI:C5660
is_a: DOID:127 ! leiomyoma
is_a: DOID:3683 ! lung benign neoplasm
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:5137
name: pericardium leiomyoma
def: "A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4453980 "DO"]
synonym: "leiomyoma of pericardium" EXACT []
xref: NCI:C6743
is_a: DOID:0050829 ! pericardium disease
is_a: DOID:0060091 ! cardiovascular organ benign neoplasm
is_a: DOID:127 ! leiomyoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5138
name: leiomyomatosis
def: "A leiomyoma that is multiple and diffuse. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cancer "DO"]
synonym: "leiomyomatoses" EXACT []
xref: ICDO:8890/1
xref: MESH:D018231
xref: NCI:C3748
is_a: DOID:127 ! leiomyoma

[Term]
id: DOID:5139
name: cellular leiomyoma
def: "A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures. (DO)" [http://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html "DO"]
xref: ICDO:8892/0
xref: NCI:C4256
is_a: DOID:127 ! leiomyoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5140
name: gallbladder leiomyoma
def: "A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17059154 "DO"]
synonym: "leiomyoma of the gallbladder" EXACT []
xref: NCI:C5747
is_a: DOID:0080640 ! gallbladder benign neoplasm
is_a: DOID:127 ! leiomyoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5142
name: vulvar leiomyoma
def: "A vulvar benign neoplasm that is located_in smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080524/ "DO"]
xref: NCI:C40326
is_a: DOID:0060109 ! vulvar benign neoplasm
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5143
name: large bowel leiomyoma
def: "An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17201349 "DO"]
synonym: "leiomyoma of large intestine" EXACT []
xref: NCI:C5677
xref: RDO:9003317
is_a: DOID:127 ! leiomyoma
is_a: DOID:4610 ! intestinal benign neoplasm
is_a: DOID:9008443 ! Colorectal Neoplasms
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:5146
name: appendix leiomyoma
def: "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7414395 "DO"]
synonym: "appendiceal leiomyoma" EXACT []
xref: NCI:C5514
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:127 ! leiomyoma
is_a: DOID:60000 ! appendix disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5147
name: dartoic leiomyoma
def: "A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4483 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27529047 "DO"]
synonym: "dartoic myoma" EXACT []
xref: NCI:C4483
is_a: DOID:0050622 ! reproductive organ benign neoplasm
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:5149
name: epithelioid neurofibroma
xref: NCI:C6558
is_a: DOID:962 ! neurofibroma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5150
name: neurofibroma of gallbladder
synonym: "neurofibroma of the gallbladder" EXACT []
xref: NCI:C5746
xref: RDO:9003124
is_a: DOID:3121 ! gallbladder cancer
is_a: DOID:962 ! neurofibroma
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:5151
name: plexiform neurofibroma
def: "A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)" [MESH:D018318]
synonym: "Elephantiasis Neuromatoses" EXACT []
synonym: "Elephantiasis Neuromatosis" EXACT []
synonym: "Pachydermatocele" EXACT []
synonym: "Pachydermatoceles" EXACT []
synonym: "Plexiform Neurofibromas" EXACT []
synonym: "Plexiform Neuroma" EXACT []
synonym: "Plexiform Neuromas" EXACT []
synonym: "Tumor Royale" EXACT []
xref: EFO:0000658
xref: ICDO:9550/0
xref: MESH:D018318
xref: NCI:C3797
xref: RDO:0007179
is_a: DOID:962 ! neurofibroma

[Term]
id: DOID:5152
name: cellular neurofibroma
xref: NCI:C41427
is_a: DOID:962 ! neurofibroma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5153
name: atypical neurofibroma
xref: NCI:C41426
is_a: DOID:962 ! neurofibroma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5154
name: borna disease
def: "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. (DO)" [http://www.biomedcentral.com/1471-244X/10/70 "DO"]
synonym: "enzootic encephalomyelitis" EXACT []
xref: EFO:0007178
xref: MESH:D001890
is_a: DOID:9000025 ! Central Nervous System Infections
is_a: DOID:9004985 ! Animal Diseases
is_a: DOID:9007829 ! Mononegavirales Infections

[Term]
id: DOID:5155
name: multiple mucosal neuroma
xref: NCI:C6559
xref: RDO:9004494
is_a: DOID:2001 ! neuroma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5157
name: benign pleural mesothelioma
synonym: "mesothelioma of pleura" EXACT []
xref: EFO:1000485
xref: NCI:C9351
is_a: DOID:0050621 ! respiratory system benign neoplasm
is_a: DOID:1532 ! pleural disease
is_a: DOID:2645 ! benign mesothelioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:5158
name: pleural cancer
def: "A connective tissue cancer that located_in the pleura. (DO)" [http://en.wikipedia.org/wiki/Pleural_cavity "DO"]
synonym: "malignant pleural neoplasm" EXACT []
synonym: "neoplasm of pleura" BROAD []
xref: EFO:1000362
xref: ICD10CM:C38.4
xref: ICD9CM:163
xref: NCI:C3547
is_a: DOID:201 ! connective tissue cancer
is_a: DOID:9000315 ! Pleural Neoplasms
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5160
name: arteriosclerosis obliterans
def: "Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." [MESH:D001162]
xref: EFO:1000820
xref: MESH:D001162
is_a: DOID:2349 ! arteriosclerosis

[Term]
id: DOID:5161
name: Monckeberg arteriosclerosis
def: "Thickening and loss of elasticity of the walls of muscular ARTERIES due to calcification of the TUNICA MEDIA, the concentric layers of helically arranged SMOOTH MUSCLE CELLS." [MESH:D050380]
synonym: "Medial Calcific Scleroses" EXACT []
synonym: "Medial Calcific Sclerosis" EXACT []
synonym: "Monckeberg's Medial Calcific Sclerosis" EXACT []
synonym: "Monckeberg's Sclerosis" EXACT []
synonym: "Monckeberg Medial Calcific Sclerosis" EXACT []
synonym: "Monckeberg Sclerosis" EXACT []
synonym: "Monckebergs Sclerosis" EXACT []
synonym: "Mönckeberg's Medial Calcific Sclerosis" EXACT []
synonym: "Mönckeberg's Sclerosis" EXACT []
synonym: "Mönckeberg Medial Calcific Sclerosis" EXACT []
synonym: "Mönckeberg Sclerosis" EXACT []
synonym: "Mönckebergs Sclerosis" EXACT []
xref: MESH:D050380
xref: RDO:0007570
is_a: DOID:2349 ! arteriosclerosis
is_a: DOID:9006332 ! Vascular Calcification

[Term]
id: DOID:5162
name: arteriolosclerosis
def: "An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia. (DO)" [https://en.wikipedia.org/wiki/Arteriolosclerosis "DO"]
synonym: "Arterioloscleroses" EXACT []
xref: EFO:1000819
xref: MESH:D050379
xref: NCI:C35543
is_a: DOID:2349 ! arteriosclerosis

[Term]
id: DOID:5165
name: uterine corpus sarcoma
def: "An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient "DO"]
synonym: "sarcoma of corpus uteri" EXACT []
synonym: "sarcoma of uterus" EXACT []
synonym: "uterine corpus undifferentiated sarcoma" NARROW []
synonym: "uterine sarcoma" EXACT []
xref: EFO:0002914
xref: EFO:0010833
xref: GARD:9383
xref: NCI:C6339
is_a: DOID:1115 ! sarcoma
is_a: DOID:9460 ! uterine corpus cancer
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:5166
name: endometrial stromal tumor
def: "Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." [MESH:D036821]
synonym: "Endolymphatic Stromal Myoses" EXACT []
synonym: "Endolymphatic Stromal Myosis" EXACT []
synonym: "endometrial stromal neoplasm" EXACT []
synonym: "endometrial stromal tumors" EXACT []
synonym: "Sarcoma, Endometrial Stromal, Low-Grade" EXACT []
xref: EFO:1000920
xref: MESH:D036821
is_a: DOID:1115 ! sarcoma
is_a: DOID:1380 ! endometrial cancer
is_a: DOID:9003944 ! Connective Tissue Neoplasms
is_a: DOID:9007715 ! Endometrial Neoplasms

[Term]
id: DOID:5169
name: ovarian endometrioid stromal sarcoma
def: "An ovary sarcoma that arises from endometrial stromal tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609926/ "DO"]
xref: NCI:C40065
xref: RDO:9001892
is_a: DOID:2146 ! ovary sarcoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:5170
name: vaginal endometrial stromal sarcoma
def: "A vagina sarcoma that has_material_basis_in endometrial stroma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24294390 "DO"]
xref: NCI:C40270
is_a: DOID:1380 ! endometrial cancer
is_a: DOID:1901 ! vagina sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:5171
name: vaginal endometrial stromal tumor
def: "A vaginal cancer that has_material_basis_in endometrial stroma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24294390 "DO"]
xref: NCI:C40269
xref: RDO:9004612
is_a: DOID:119 ! vaginal cancer
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5172
name: endometrium carcinoma in situ
def: "An in situ carcinoma that is located_in the endometrium. (DO)" [https://www.sciencedirect.com/science/article/pii/0002937866903917 "DO"]
synonym: "carcinoma in situ of endometrium" EXACT []
synonym: "endometrial carcinoma in situ" EXACT []
xref: ICD10CM:D07.0
is_a: DOID:2871 ! endometrial carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:5176
name: renal Wilms' tumor
synonym: "nonanaplastic renal Wilm's tumor" EXACT []
synonym: "nonanaplastic renal Wilm's tumour" EXACT []
synonym: "nonanaplastic renal Wilms tumor" EXACT []
synonym: "renal Wilms' tumour" EXACT []
xref: NCI:C6951
is_a: DOID:2154 ! nephroblastoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5178
name: metachronous kidney Wilms' tumor
synonym: "metachronous Wilms tumor of the kidney" EXACT []
xref: NCI:C38158
xref: RDO:9004734
is_a: DOID:2154 ! nephroblastoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5179
name: mixed cell type kidney Wilms' tumor
synonym: "mixed cell type kidney Wilms' tumour" EXACT []
synonym: "mixed cell type renal Wilms tumor" EXACT []
synonym: "mixed cell type renal Wilms tumour" EXACT []
xref: NCI:C9149
xref: RDO:9004735
is_a: DOID:2154 ! nephroblastoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:518
name: scrotum neoplasm
synonym: "malignant scrotal neoplasm" EXACT []
synonym: "malignant tumor of scrotum" EXACT []
synonym: "malignant tumour of scrotum" EXACT []
synonym: "neoplasm of scrotum" EXACT []
synonym: "scrotal Ca" EXACT []
synonym: "scrotal tumor" EXACT []
synonym: "scrotum cancer" EXACT []
xref: ICD10CM:C63.2
xref: ICD9CM:187.7
xref: NCI:C3560
xref: NCI:C4380
is_a: DOID:3856 ! male reproductive organ cancer
is_a: DOID:9003125 ! Male Genital Neoplasms
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:5182
name: blastema predominant kidney Wilms' tumor
synonym: "blastema predominant kidney adenosarcoma" EXACT []
synonym: "blastema predominant kidney Wilms' tumour" EXACT []
synonym: "Blastema Predominant renal Wilms tumor" EXACT []
synonym: "Blastema Predominant renal Wilms tumour" EXACT []
xref: NCI:C9147
xref: RDO:9004736
is_a: DOID:5176 ! renal Wilms' tumor
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5183
name: hereditary Wilms' tumor
def: "A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. (DO)" [http://www.cancerindex.org/geneweb/X210202.htm "DO"]
synonym: "hereditary Wilms' tumour" EXACT []
synonym: "PREDISPOSITION TO WILMS TUMOR, CTR9-RELATED" RELATED []
synonym: "WT1" EXACT []
xref: NCI:C8496
is_a: DOID:2154 ! nephroblastoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5189
name: epithelial predominant Wilms' tumor
synonym: "epithelial predominant kidney adenosarcoma" EXACT []
synonym: "epithelial predominant renal Wilms tumor" EXACT []
synonym: "epithelial predominant renal Wilms tumour" EXACT []
synonym: "epithelial predominant Wilms' tumour" EXACT []
xref: NCI:C9146
is_a: DOID:2154 ! nephroblastoma
is_a: DOID:5176 ! renal Wilms' tumor
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:519
name: aortitis
def: "Inflammation of the wall of the AORTA." [MESH:D001025]
synonym: "aortitides" EXACT []
synonym: "LARGE VESSEL VASCULITIS" BROAD []
xref: EFO:1000816
xref: ICD10CM:I77.6
xref: MESH:D001025
xref: NCI:C97085
is_a: DOID:520 ! aortic disease
is_a: DOID:865 ! vasculitis

[Term]
id: DOID:5190
name: cervical Wilms' tumor
def: "A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10620450 "DO"]
xref: EFO:1000173
xref: NCI:C40236
is_a: DOID:4112 ! cervical carcinosarcoma
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:5191
name: stromal predominant kidney Wilms' tumor
synonym: "stromal predominant kidney Wilms' tumour" EXACT []
synonym: "Stromal Predominant renal Wilms tumor" EXACT [NCI2004_11_17:C9148]
synonym: "Stromal Predominant renal Wilms tumour" EXACT []
xref: EFO:1000551
xref: NCI:C9148
xref: RDO:9004902
is_a: DOID:2154 ! nephroblastoma
is_a: DOID:5176 ! renal Wilms' tumor
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:5193
name: nodular ganglioneuroblastoma
xref: NCI:C42058
is_a: DOID:4163 ! ganglioneuroblastoma

[Term]
id: DOID:5194
name: intermixed schwannian stroma-rich ganglioneuroblastoma
xref: NCI:C42057
is_a: DOID:4163 ! ganglioneuroblastoma

[Term]
id: DOID:5195
name: peripheral nervous system ganglioneuroblastoma
synonym: "PNS ganglioneuroblastoma" EXACT []
xref: NCI:C6594
is_a: DOID:4163 ! ganglioneuroblastoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5196
name: fallopian tube adenomatoid tumor
def: "A fallopian tube benign neoplasm that derives_from mesothelium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13222203 "DO"]
xref: NCI:C40129
xref: RDO:9004999
is_a: DOID:0060111 ! fallopian tube benign neoplasm
is_a: DOID:746 ! adenomatoid tumor
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:5199
name: ureteral obstruction
def: "Blockage in any part of the URETER causing obstruction of urine flow from the kidney to the URINARY BLADDER. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as HYDRONEPHROSIS and obstructive nephropathy." [MESH:D014517]
synonym: "Ureteral Obstructions" EXACT []
xref: ICD9CM:593.4
xref: MESH:D014517
xref: RDO:0003206
is_a: DOID:1426 ! ureteral disease
is_a: DOID:5200 ! urinary tract obstruction

[Term]
id: DOID:520
name: aortic disease
def: "An artery disease that is characterized by degeneration of the cells composing the aortic wall. (DO)" [http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/aorta.html "DO"]
synonym: "aortic diseases" EXACT []
synonym: "aortic disorder" EXACT []
synonym: "Aortopathy" EXACT []
synonym: "disorder of the aorta" EXACT []
synonym: "Familial Aortopathy" EXACT []
xref: EFO:0005775
xref: MESH:D001018
xref: NCI:C101253
is_a: DOID:0050828 ! artery disease

[Term]
id: DOID:5200
name: urinary tract obstruction
synonym: "obstructive uropathy" EXACT []
synonym: "urinary obstruction" EXACT []
xref: EFO:0009571
xref: ICD10CM:N13.9
xref: ICD9CM:599.6
xref: NCI:C3675
xref: NCI:C79805
is_a: DOID:18 ! urinary system disease
created_by: rgd
creation_date: 2017-10-12T00:00:00Z

[Term]
id: DOID:5204
name: fructose-1,6-bisphosphatase deficiency
alt_id: MIM:229700
def: "A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. (DO)" [http://en.wikipedia.org/wiki/Fructose-1\,6-bisphosphatase_deficiency "DO", http://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency "DO"]
synonym: "FBP1D" EXACT []
synonym: "fructose-1,6-bisphosphatase deficiencies" EXACT []
synonym: "fructose-1,6-diphosphatase deficiencies" EXACT []
synonym: "Fructose-1,6-Diphosphatase Deficiency" EXACT []
synonym: "fructose 1 phosphate aldolase deficiency" EXACT []
synonym: "Fructose-Biphosphatase Deficiencies" EXACT []
synonym: "Fructose Biphosphatase Deficiency" EXACT []
synonym: "Fructosediphosphatase Deficiencies" EXACT []
synonym: "Fructosediphosphatase Deficiency" EXACT []
synonym: "hexosediphosphatase deficiencies" EXACT []
synonym: "hexosediphosphatase deficiency" EXACT []
xref: GARD:2400
xref: ICD10CM:E74.19
xref: MESH:D015319
xref: NCI:C128119
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:9000875 ! Fructose Metabolism, Inborn Errors

[Term]
id: DOID:5207
name: monodermal teratoma
def: "An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm). (DO)" [https://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475 "DO"]
synonym: "ovarian monodermal teratoma" EXACT []
xref: NCI:C7286
is_a: DOID:5567 ! ovarian germ cell teratoma
is_a: DOID:6331 ! immature teratoma of ovary
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5208
name: malignant struma ovarii
def: "A struma ovarii that is cancerous. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25640097 "DO"]
xref: NCI:C4291
is_a: DOID:2641 ! ovarian germ cell monodermal and highly specialized teratoma

[Term]
id: DOID:5212
name: congenital disorder of glycosylation
def: "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. (DO)" [http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation "DO"]
synonym: "Abnormal protein O-linked glycosylation" NARROW []
synonym: "carbohydrate-deficient glycoprotein syndrome" EXACT []
synonym: "carbohydrate-deficient glycoprotein syndromes" EXACT []
synonym: "congenital disorders of glycosylation" EXACT []
xref: GARD:10307
xref: HP:0012358
xref: MESH:D018981
xref: NCI:C84615
xref: ORDO:137
is_a: DOID:0080015 ! physical disorder
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:5213
name: chronic inflammatory demyelinating polyradiculoneuropathy
def: "An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. (DO)" [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/ "DO"]
synonym: "chronic inflammatory demyelinating polyneuropathy" EXACT []
synonym: "chronic inflammatory polyradiculoneuropathies" EXACT []
synonym: "Chronic Inflammatory Polyradiculoneuropathy" EXACT []
synonym: "Chronic Inflammatory Polyradiculopathies" EXACT []
synonym: "Chronic Inflammatory Polyradiculopathy" EXACT []
synonym: "CIDP" EXACT []
xref: EFO:0009538
xref: EFO:1000868
xref: GARD:6102
xref: ICD10CM:G61.81
xref: ICD9CM:357.81
xref: MESH:D020277
is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system
is_a: DOID:4308 ! polyradiculoneuropathy
is_a: DOID:5214 ! demyelinating polyneuropathy

[Term]
id: DOID:5214
name: demyelinating polyneuropathy
synonym: "peripheral demyelinating neuropathy" EXACT []
xref: NCI:C27062
xref: RDO:9004833
is_a: DOID:1389 ! polyneuropathy
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:5221
name: chronic polyneuropathy
xref: NCI:C36071
xref: RDO:9004834
is_a: DOID:1389 ! polyneuropathy
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:5222
name: acute necrotizing encephalitis
synonym: "acute necrotizing encephalitides" EXACT []
xref: NCI:C35383
is_a: DOID:9588 ! encephalitis

[Term]
id: DOID:5223
name: infertility
def: "A reduced or absent capacity to reproduce." [MESH:D007246]
synonym: "male and female infertility" EXACT []
synonym: "reproductive sterility" EXACT []
synonym: "sterility" EXACT []
synonym: "sub-fertility" EXACT []
synonym: "subfertility" EXACT []
xref: EFO:0000545
xref: MESH:D007246
xref: MIM:PS616814
xref: NCI:C3836
is_a: DOID:229 ! female reproductive system disease
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:5224
name: acute hemorrhagic encephalitis
xref: NCI:C35796
xref: RDO:9002787
is_a: DOID:9588 ! encephalitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5225
name: von Economo's disease
synonym: "Encephalitis lethargica" EXACT [SNOMEDCT_2005_07_31:186500003]
synonym: "von Economo disease" EXACT []
xref: ICD10CM:A85.8
xref: NCI:C26761
xref: RDO:9002792
is_a: DOID:9588 ! encephalitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5230
name: hepatoerythropoietic porphyria
def: "An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating." [MESH:D017121]
synonym: "Erythrohepatic Porphyria" EXACT []
synonym: "erythrohepatic porphyrias" EXACT []
synonym: "hepatoerythropoietic porphyrias" EXACT []
xref: GARD:6169
xref: MESH:D017121
xref: NCI:C84754
xref: ORDO:95159
is_a: DOID:3133 ! acute porphyria
is_a: DOID:9005584 ! Hepatic Porphyrias

[Term]
id: DOID:5232
name: aortic valve prolapse
def: "The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." [MESH:D001023]
synonym: "aortic valve prolapses" EXACT []
xref: EFO:1000815
xref: MESH:D001023
is_a: DOID:62 ! aortic valve disease
is_a: DOID:9004382 ! Heart Valve Prolapse

[Term]
id: DOID:5233
name: glomangiosarcoma
synonym: "malignant Glomus neoplasm" EXACT []
xref: ICDO:8710/3
xref: NCI:C4221
xref: RDO:9003006
is_a: DOID:2431 ! glomus tumor
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5236
name: subungual glomus tumor
synonym: "subungual glomus tumour" EXACT []
xref: MONDO:0003341
xref: NCI:C36079
is_a: DOID:2431 ! glomus tumor
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5238
name: benign perivascular tumor
xref: NCI:C6529
xref: RDO:9004599
is_a: DOID:0060091 ! cardiovascular organ benign neoplasm

[Term]
id: DOID:5240
name: retinal hemangioblastoma
synonym: "Capillary hemangioma of retina" EXACT []
xref: MONDO:0003343
xref: NCI:C39783
is_a: DOID:0050687 ! cell type cancer
is_a: DOID:0060096 ! sensory organ benign neoplasm
is_a: DOID:305 ! carcinoma
is_a: DOID:4645 ! retinal cancer
is_a: DOID:5241 ! hemangioblastoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5241
name: hemangioblastoma
alt_id: RDO:0007184
def: "A benign tumor of the nervous system that may occur sporadically or in association with VON HIPPEL-LINDAU DISEASE. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with INTRACRANIAL HYPERTENSION, and ataxia. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2071-2)" [MESH:D018325]
synonym: "capillary hemangioblastoma" EXACT []
synonym: "hemangioblastomas" EXACT []
synonym: "Multiple Hemangioblastoma" EXACT []
synonym: "multiple hemangioblastomas" EXACT []
xref: GARD:8232
xref: GARD:8522
xref: ICDO:9161/1
xref: MESH:D018325
xref: NCI:C3801
is_a: DOID:255 ! hemangioma
is_a: DOID:2725 ! capillary hemangioma

[Term]
id: DOID:525
name: central nervous system vasculitis
def: "A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine. (DO)" [https://my.clevelandclinic.org/health/diseases/13205-central-nervous-system-vasculitis "DO"]
synonym: "central nervous system angiitis" EXACT []
synonym: "cerebral angiitis" EXACT []
synonym: "cerebral vasculitis" EXACT []
synonym: "CNS Vasculitis" EXACT []
synonym: "granulomatous arteritis" EXACT []
synonym: "postzoster arteritis" EXACT []
synonym: "primary central nervous system vasculitis" EXACT []
synonym: "primary CNS vasculitis" EXACT []
synonym: "secondary CNS vasculitis" EXACT []
xref: MESH:D020293
xref: NCI:C84622
is_a: DOID:438 ! autoimmune disease of the nervous system
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:865 ! vasculitis

[Term]
id: DOID:5251
name: inflammatory leiomyosarcoma
def: "A leiomyosarcoma that is characterized by a prominent intristic inflammatory component. (DO)" [https://www.nature.com/articles/modpathol2017113 "DO"]
xref: NCI:C27495
xref: RDO:9003935
is_a: DOID:1967 ! leiomyosarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5253
name: conventional leiomyosarcoma
def: "A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma. (DO)" [https://www.mayoclinic.org/diseases-conditions/leiomyosarcoma/cdc-20387733 "DO"]
xref: NCI:C9428
is_a: DOID:1967 ! leiomyosarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5254
name: central nervous system leiomyosarcoma
def: "A leiomyosarcoma that is located_in the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10761660 "DO"]
synonym: "leiomyosarcoma of the CNS" EXACT []
xref: NCI:C6999
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5258
name: granular cell leiomyosarcoma
def: "A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3232754 "DO"]
xref: NCI:C27494
xref: RDO:9003939
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:2411 ! granular cell tumor
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5259
name: colon leiomyosarcoma
def: "A leiomyosarcoma and sarcoma of colon that is located_in the colon. (DO)" [http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm "DO"]
synonym: "colonic leiomyosarcoma" EXACT []
xref: NCI:C5494
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:5260 ! colon sarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:526
name: human immunodeficiency virus infectious disease
alt_id: MIM:609423
def: "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands. (DO)" [http://en.wikipedia.org/wiki/HIV "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000602.htm "DO"]
synonym: "CCR5 PROMOTER POLYMORPHISM" RELATED []
synonym: "Congenital human immunodeficiency virus" NARROW []
synonym: "HIV-1, RESISTANCE TO" NARROW []
synonym: "HIV-1, SUSCEPTIBILITY TO HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO" NARROW []
synonym: "HIV-1 viremia, susceptibility to" NARROW []
synonym: "HIV Infection" EXACT []
synonym: "HIV Infections" EXACT []
synonym: "HTLV-III Infection" EXACT []
synonym: "HTLV III Infections" EXACT []
synonym: "HTLV-III-LAV Infection" EXACT []
synonym: "HTLV III LAV Infections" EXACT []
synonym: "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, DELAYED DISEASE PROGRESSION WITH INFECTION BY" NARROW []
synonym: "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, INCREASED PERINATAL TRANSMISSION OF" NARROW []
synonym: "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID DISEASE PROGRESSION WITH INFECTION BY" NARROW []
synonym: "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS" NARROW []
synonym: "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO" EXACT []
synonym: "T Lymphotropic Virus Type III Infections, Human" EXACT []
xref: EFO:0000180
xref: EFO:0000764
xref: ICD10CM:B20
xref: ICD9CM:042-042.99
xref: MESH:D015658
xref: NCI:C3108
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9003767 ! Viral Sexually Transmitted Diseases
is_a: DOID:9005091 ! Lentivirus Infections

[Term]
id: DOID:5260
name: colon sarcoma
def: "A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31243197/ "DO"]
synonym: "colonic sarcoma" EXACT []
xref: NCI:C5495
is_a: DOID:1115 ! sarcoma
is_a: DOID:219 ! colon cancer
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:5261
name: heart leiomyosarcoma
synonym: "leiomyosarcoma of heart" EXACT []
xref: NCI:C5364
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:5262 ! heart sarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5262
name: heart sarcoma
def: "A sarcoma and malignant neoplasm of heart that is located_in the heart. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/sarcoma/cardiac-sarcoma "DO"]
synonym: "cardiac sarcoma" EXACT []
synonym: "sarcoma of heart" EXACT []
xref: NCI:C7723
is_a: DOID:1115 ! sarcoma
is_a: DOID:117 ! heart cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:5263
name: ovary leiomyosarcoma
def: "An ovary sarcoma that arises from smooth muscle progenitors. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22873115 "DO"]
synonym: "leiomyosarcoma of ovary" EXACT []
xref: EFO:0006718
xref: NCI:C5234
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:2146 ! ovary sarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5264
name: epithelioid leiomyosarcoma
def: "A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28288693 "DO"]
synonym: "epithelioid leiomyosarcomas" EXACT []
xref: ICDO:8891/3
xref: NCI:C3700
xref: RDO:9003933
is_a: DOID:1967 ! leiomyosarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5265
name: lung leiomyosarcoma
def: "A leiomyosarcoma and sarcoma of lung that is located_in the lung. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774417/ "DO"]
synonym: "pulmonary leiomyosarcoma" EXACT []
xref: NCI:C5667
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:2784 ! lung sarcoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:5267
name: anus leiomyosarcoma
def: "A leiomyosarcoma and sarcoma of the anus that is located_in the anus. (DO)" [http://www.springerlink.com/content/t57853114066u8n8/ "DO"]
synonym: "leiomyosarcoma of anus" EXACT []
xref: NCI:C5599
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:4067 ! anus sarcoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5268
name: myxoid leiomyosarcoma
def: "A leiomyosarcoma that is characterized by abundant myxoid stroma. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/leiomyosarcoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/26866354 "DO"]
synonym: "myxoid leiomyosarcomas" EXACT []
xref: ICDO:8896/3
xref: NCI:C3701
is_a: DOID:1967 ! leiomyosarcoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5271
name: small intestine leiomyosarcoma
def: "A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. (DO)" [http://en.wikipedia.org/wiki/Leiomyosarcoma "DO"]
synonym: "leiomyosarcoma of the small bowel" EXACT []
synonym: "smooth muscle connective tissue tumor" EXACT []
xref: NCI:C7085
xref: RDO:9003973
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:5272 ! small intestinal sarcoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5272
name: small intestinal sarcoma
def: "A sarcoma and malignant tumor of small intestine that is located_in the small intestine. (DO)" [http://www.cancer.gov/cancertopics/types/smallintestine "DO"]
synonym: "sarcoma of the small intestine" EXACT []
xref: NCI:C5335
is_a: DOID:10154 ! small intestine cancer
is_a: DOID:1115 ! sarcoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5273
name: cutaneous leiomyosarcoma
synonym: "leiomyosarcoma of the skin" EXACT []
xref: NCI:C4484
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:2687 ! skin sarcoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5274
name: malignant dermis tumor
synonym: "malignant dermis tumour" EXACT []
synonym: "malignant neoplasm of Dermis" EXACT [NCI2004_11_17:C4574]
synonym: "malignant tumor of dermis" EXACT [SNOMEDCT_2005_07_31:255096006]
synonym: "malignant tumour of dermis" EXACT []
xref: NCI:C4574
xref: RDO:9002981
is_a: DOID:4159 ! skin cancer
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5275
name: gallbladder leiomyosarcoma
def: "A gallbladder sarcoma that is located_in the soft tissues of the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Leiomyosarcoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/2278917 "DO"]
synonym: "leiomyosarcoma of the gallbladder" EXACT []
xref: NCI:C5841
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:4058 ! gallbladder sarcoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5276
name: esophagus leiomyosarcoma
synonym: "leiomyosarcoma of esophagus" EXACT []
synonym: "leiomyosarcoma of oesophagus" EXACT []
synonym: "oesophagus leiomyosarcoma" EXACT []
xref: NCI:C5334
is_a: DOID:1114 ! esophagus sarcoma
is_a: DOID:1967 ! leiomyosarcoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:528
name: hydrarthrosis
def: "Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)" [MESH:D006833]
synonym: "hydrarthroses" EXACT []
xref: ICD9CM:719.08
xref: MESH:D006833
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:5280
name: gastric leiomyosarcoma
xref: NCI:C27200
is_a: DOID:10534 ! stomach cancer
is_a: DOID:1967 ! leiomyosarcoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:5282
name: prostate leiomyosarcoma
def: "A prostate sarcoma that is located_in the prostate. (DO)" [http://www3.interscience.wiley.com/journal/112677325/abstract "DO"]
synonym: "leiomyosarcoma of the prostate" EXACT []
xref: NCI:C5526
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:4054 ! prostate sarcoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5283
name: vagina leiomyosarcoma
def: "A vagina sarcoma that has_material_basis_in smooth muscle. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25909129 "DO"]
synonym: "leiomyosarcoma of the vagina" EXACT []
xref: NCI:C6326
is_a: DOID:1901 ! vagina sarcoma
is_a: DOID:1967 ! leiomyosarcoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5284
name: retroperitoneal leiomyosarcoma
xref: NCI:C27904
is_a: DOID:12341 ! retroperitoneal sarcoma

[Term]
id: DOID:5285
name: breast leiomyosarcoma
def: "A breast sarcoma that arises from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/ "DO"]
synonym: "leiomyosarcoma of the breast" EXACT []
xref: NCI:C5186
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:3017 ! breast sarcoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5286
name: vulvar leiomyosarcoma
def: "A vulvar sarcoma that has_material_basis_in smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26010680 "DO"]
xref: EFO:1001975
xref: NCI:C40318
is_a: DOID:2096 ! vulvar sarcoma

[Term]
id: DOID:5287
name: kidney leiomyosarcoma
def: "A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. (DO)" [http://www.sage-hindawi.com/journals/pri/2010/652398.html "DO"]
synonym: "leiomyosarcoma of kidney" EXACT []
xref: NCI:C6183
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:4242 ! kidney sarcoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5288
name: larynx leiomyosarcoma
def: "A leiomyosarcoma located_in the larynx. (DO)" [http://findarticles.com/p/articles/mi_m0BUM/is_7_84/ai_n14920168/ "DO"]
synonym: "leiomyosarcoma of larynx" EXACT []
xref: NCI:C6022
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:2877 ! larynx sarcoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5289
name: uterus leiomyosarcoma
def: "A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus. (DO)" [http://en.wikipedia.org/wiki/Leiomyosarcoma "DO"]
synonym: "leiomyosarcoma of Corpus Uteri" EXACT []
xref: EFO:1001974
xref: NCI:C6340
xref: ORDO:213625
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:5165 ! uterine corpus sarcoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:529
name: blepharospasm
def: "A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"]
synonym: "blepharospasms" EXACT []
xref: GARD:5909
xref: ICD10CM:G24.5
xref: ICD9CM:333.81
xref: MESH:D001764
xref: NCI:C118723
is_a: DOID:0050836 ! focal dystonia
is_a: DOID:530 ! eyelid disease

[Term]
id: DOID:5292
name: mediastinum leiomyosarcoma
def: "A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33776690/ "DO", https://pubmed.ncbi.nlm.nih.gov/34446630/ "DO"]
synonym: "leiomyosarcoma of mediastinum" EXACT []
xref: NCI:C6619
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:4050 ! mediastinum sarcoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5293
name: extrahepatic bile duct leiomyosarcoma
def: "A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver. (DO)" [http://www.cancer.gov/dictionary/?CdrID=44498 "DO", http://www.cancer.gov/dictionary/?CdrID=46027 "DO"]
synonym: "leiomyosarcoma of the bile duct" EXACT []
xref: NCI:C5848
xref: RDO:9004013
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:4064 ! bile duct sarcoma
is_a: DOID:4682 ! extrahepatic bile duct carcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5295
name: intestinal disease
alt_id: OMIA:002031
def: "A gastrointestinal system disease that is located_in the intestine. (DO)" [http://en.wikipedia.org/wiki/Human_gastrointestinal_tract "DO"]
synonym: "intestinal diseases" EXACT []
synonym: "Lundehund syndrome" NARROW []
synonym: "small intestine enteropathy" NARROW []
xref: EFO:0000405
xref: EFO:0009431
xref: EFO:0009705
xref: ICD10CM:K63.9
xref: ICD9CM:569.9
xref: MESH:D007410
xref: NCI:C26801
is_a: DOID:77 ! gastrointestinal system disease

[Term]
id: DOID:5296
name: liver leiomyosarcoma
def: "A leiomyosarcoma and sarcoma of liver that is located_in the liver. (DO)" [http://www.cancer.gov/dictionary/?CdrID=46027 "DO"]
synonym: "leiomyosarcoma of the liver" EXACT []
xref: NCI:C5756
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:270 ! liver sarcoma
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:5297
name: rectum leiomyosarcoma
def: "A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum. (DO)" [http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm "DO"]
synonym: "leiomyosarcoma of rectum" EXACT []
xref: NCI:C5549
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:1995 ! rectum sarcoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5299
name: endometrial clear cell adenocarcinoma
def: "An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24817975 "DO"]
synonym: "clear cell carcinoma of endometrium" EXACT []
xref: EFO:1000231
xref: NCI:C8028
is_a: DOID:2870 ! endometrial adenocarcinoma
is_a: DOID:4468 ! clear cell adenocarcinoma
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:53
name: pituitary gland disease
def: "An endocrine system disease that is located_in the pituitary gland. (DO)" [http://en.wikipedia.org/wiki/Pituitary_disease "DO"]
synonym: "Adenohypophyseal Disease" EXACT []
synonym: "adenohypophyseal diseases" EXACT []
synonym: "Anterior Pituitary Disease" EXACT []
synonym: "anterior pituitary diseases" EXACT []
synonym: "Hypophyseal Disorder" EXACT []
synonym: "hypophyseal disorders" EXACT []
synonym: "Neurohypophyseal Disease" EXACT []
synonym: "Neurohypophyseal Diseases" EXACT []
synonym: "Pituitary Disease" EXACT []
synonym: "Pituitary Diseases" EXACT []
synonym: "Pituitary Disorder" EXACT []
synonym: "Pituitary Disorders" EXACT []
synonym: "pituitary gland diseases" EXACT []
synonym: "pituitary gland disorder" EXACT []
synonym: "posterior pituitary disease" EXACT []
synonym: "posterior pituitary diseases" EXACT []
xref: EFO:0009607
xref: ICD9CM:253.1
xref: MESH:D010900
is_a: DOID:1931 ! hypothalamic disease
is_a: DOID:28 ! endocrine system disease

[Term]
id: DOID:530
name: eyelid disease
def: "An adnexa disease that is located_in the eyelid. (DO)" [http://en.wikipedia.org/wiki/Eye_disease#H00-H06_Disorders_of_eyelid.2C_lacrimal_system_and_orbit "DO"]
synonym: "eyelid diseases" EXACT []
xref: EFO:0009547
xref: ICD10CM:H02.9
xref: ICD9CM:374.9
xref: MESH:D005141
xref: NCI:C26768
is_a: DOID:37 ! skin disease
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:5301
name: fallopian tube clear cell adenocarcinoma
def: "A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)" [https://www.hindawi.com/journals/criog/2015/183243/ "DO"]
synonym: "clear cell carcinoma of the fallopian tube" EXACT []
xref: NCI:C6280
is_a: DOID:3706 ! fallopian tube adenocarcinoma
is_a: DOID:4468 ! clear cell adenocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:5302
name: uterine ligament clear cell adenocarcinoma
def: "A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26699941 "DO"]
xref: NCI:C40139
is_a: DOID:3700 ! uterine ligament adenocarcinoma
is_a: DOID:4468 ! clear cell adenocarcinoma

[Term]
id: DOID:5303
name: cervical clear cell adenocarcinoma
def: "A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23849091 "DO"]
synonym: "clear cell carcinoma of the cervix uteri" EXACT [NCI2004_11_17:C6344]
xref: EFO:1000163
xref: NCI:C6344
is_a: DOID:3702 ! cervical adenocarcinoma
is_a: DOID:4468 ! clear cell adenocarcinoma

[Term]
id: DOID:5304
name: ovarian clear cell adenocarcinoma
def: "A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25398420 "DO"]
synonym: "clear cell adenocarcinoma of ovary" EXACT []
synonym: "clear cell adenocarcinoma of the ovary" EXACT []
xref: EFO:1000042
xref: NCI:C40078
xref: ORDO:398971
is_a: DOID:3713 ! ovary adenocarcinoma
is_a: DOID:4468 ! clear cell adenocarcinoma

[Term]
id: DOID:5306
name: bladder clear cell adenocarcinoma
def: "A clear cell adenocarcinoma that is located_in the bladder. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183708/ "DO"]
synonym: "bladder Mesonephric adenocarcinoma" EXACT []
synonym: "clear cell adenocarcinoma of bladder" EXACT []
xref: NCI:C6179
is_a: DOID:3711 ! bladder adenocarcinoma
is_a: DOID:4468 ! clear cell adenocarcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5307
name: urethra clear cell adenocarcinoma
def: "A clear cell adenocarcinoma that is located_in the urethra. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25685552 "DO"]
synonym: "Clear cell adenocarcinoma of the urethra" EXACT [NCI2004_11_17:C6172]
xref: NCI:C6172
xref: RDO:9004426
is_a: DOID:4468 ! clear cell adenocarcinoma
is_a: DOID:4910 ! urethra adenocarcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5308
name: ampulla of Vater clear cell adenocarcinoma
xref: NCI:C27414
is_a: DOID:3502 ! ampulla of Vater adenocarcinoma
is_a: DOID:7032 ! bile duct clear cell adenocarcinoma
created_by: rgd
creation_date: 2017-09-26T00:00:00Z

[Term]
id: DOID:5309
name: epithelial-myoepithelial carcinoma
xref: ICDO:8562/3
xref: NCI:C4199
is_a: DOID:8850 ! salivary gland cancer

[Term]
id: DOID:5310
name: glycogen-rich clear cell breast carcinoma
def: "A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen. (DO)" [http://surgpathcriteria.stanford.edu/breast/glycogencabr/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24400866 "DO"]
synonym: "glycogen-rich carcinoma of breast" EXACT []
xref: NCI:C40368
is_a: DOID:0081028 ! glycogen-rich carcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5313
name: vulvar alveolar soft part sarcoma
def: "An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7060986 "DO"]
xref: NCI:C40320
is_a: DOID:2096 ! vulvar sarcoma

[Term]
id: DOID:5324
name: fallopian tube germ cell cancer
def: "A fallopian tube cancer that derives_from germ cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10202679 "DO"]
synonym: "fallopian tube germ cell neoplasm" RELATED []
xref: NCI:C40130
is_a: DOID:1964 ! fallopian tube cancer
is_a: DOID:2994 ! germ cell cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5325
name: Roberts syndrome
alt_id: DOID:0050536
alt_id: MIM:268300
def: "A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1. (DO)" [https://ghr.nlm.nih.gov/condition/roberts-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/20101700 "DO"]
comment: GHR reference SC phocomelia syndrome is a mild variant of Roberts syndrome, not a distinct disease (DO)
synonym: "Appelt-Gerken-Lenz syndrome" EXACT []
synonym: "ESCO2-RELATED CONDITION" BROAD []
synonym: "hypomelia hypotrichosis facial hemangioma syndrome" EXACT []
synonym: "long bone deficiencies associated with cleft lip-palate" EXACT []
synonym: "pseudothalidomide syndrome" EXACT []
synonym: "RBS" EXACT []
synonym: "Roberts-SC phocomelia syndrome" EXACT []
synonym: "SC phocomelia syndrome" EXACT []
synonym: "SC pseudothalidomide syndrome" EXACT []
synonym: "SC syndrome" EXACT []
synonym: "tetraphocomelia-cleft palate syndrome" EXACT []
xref: GARD:7387
xref: MESH:C535687
xref: NCI:C126326
xref: NCI:C4681
xref: ORDO:3103
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000545 ! Ectromelia
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:5327
name: retinal detachment
alt_id: MIM:180050
def: "Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12)." [MESH:D012163]
synonym: "Retinal Detachments" EXACT []
synonym: "Retinal Pigment Epithelial Detachment" EXACT []
xref: EFO:0005773
xref: ICD10CM:H33.2
xref: ICD9CM:361.9
xref: MESH:D012163
xref: NCI:C26874
is_a: DOID:5679 ! retinal disease

[Term]
id: DOID:533
name: thymus gland disease
def: "disease of thymus gland" []
synonym: "disease of thymus gland" EXACT []
synonym: "thymus gland disorder" EXACT []
xref: ICD10CM:E32
xref: ICD9CM:254
xref: NCI:C26962
is_a: DOID:28 ! endocrine system disease
is_a: DOID:75 ! lymphatic system disease

[Term]
id: DOID:5330
name: dental pulp disease
def: "A tooth disease located_in dental pulp. (DO)" [https://en.wikipedia.org/wiki/Pulp_%28tooth%29 "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C34530 "DO"]
synonym: "dental pulp diseases" EXACT []
synonym: "dental pulp disorder" EXACT []
synonym: "disorder of pulp of tooth" EXACT []
synonym: "pulp disorder" EXACT []
xref: EFO:0009540
xref: MESH:D003788
xref: NCI:C34530
is_a: DOID:1091 ! tooth disease
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:5331
name: testicular granulosa cell tumor
synonym: "granulosa cell tumor of testis" EXACT []
synonym: "granulosa cell tumour of testis" EXACT []
synonym: "testicular granulosa cell tumour" EXACT []
xref: EFO:1000567
xref: NCI:C6357
is_a: DOID:0060087 ! male reproductive organ benign neoplasm
is_a: DOID:2998 ! testicular cancer
is_a: DOID:2999 ! granulosa cell tumor
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:5334
name: paraphimosis
def: "A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis." [MESH:D010263]
synonym: "paraphimoses" EXACT []
xref: EFO:1001086
xref: ICD10CM:N47.2
xref: MESH:D010263
xref: NCI:C34893
is_a: DOID:2712 ! phimosis

[Term]
id: DOID:5337
name: epulis
synonym: "epulides" EXACT []
synonym: "gingival polyp" EXACT []
synonym: "polyp of gum" EXACT []
xref: NCI:C3948
is_a: DOID:3086 ! gingival overgrowth

[Term]
id: DOID:5338
name: gingival hypertrophy
def: "Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells." [MESH:D005886]
synonym: "Gingival Hypertrophies" EXACT []
synonym: "hypertrophy of gingivae" EXACT []
xref: MESH:D005886
is_a: DOID:3086 ! gingival overgrowth

[Term]
id: DOID:5339
name: cyclic hematopoiesis
alt_id: MIM:162800
alt_id: OMIA:000248
def: "A rare disease characterized by regular 21-day cyclic fluctuations in the number of blood neutrophils, monocytes, eosinophils, lymphocytes, platelets, and reticulocytes. The recurrent severe neutropenia causes patients to experience periodic symptoms of fever, malaise, mucosal ulcers, and, rarely, life-threatening infections. (OMIM)" []
synonym: "cyclic agranulocytosis" EXACT []
synonym: "cyclical neutropenia" EXACT []
synonym: "cyclic leucopenia" EXACT []
synonym: "cyclic neutropenia" EXACT []
synonym: "ELANE-RELATED CONDITION" BROAD []
synonym: "periodic neutropenia" EXACT []
xref: GARD:6229
xref: ICD10CM:D70.4
xref: ICD9CM:288.02
xref: MESH:C536227
xref: NCI:C3820
xref: ORDO:2686
is_a: DOID:1227 ! neutropenia

[Term]
id: DOID:5340
name: anterograde amnesia
def: "An amnestic disorder that involves the impaired or lost ability to memorize new things. (DO)" [http://en.wikipedia.org/wiki/Amnesia "DO"]
synonym: "Anterograde Amnesias" EXACT []
synonym: "Anterograde Memory Loss" EXACT []
synonym: "Post-Ictal Amnesia" EXACT []
synonym: "Post-Ictal Amnesias" EXACT []
synonym: "post-ictal memory loss" EXACT []
xref: ICD10CM:R41.1
xref: MESH:D020324
is_a: DOID:10914 ! amnestic disorder

[Term]
id: DOID:5341
name: pineal region yolk sac tumor
synonym: "Pineal Region Yolk Sac neoplasm" EXACT [NCI2004_11_17:C6752]
xref: NCI:C6752
is_a: DOID:1660 ! malignant pineal area germ cell neoplasm

[Term]
id: DOID:5342
name: childhood endodermal sinus tumor
def: "An endodermal sinus tumor that occurs in children. (DO)" [http://en.wikipedia.org/wiki/Endodermal_sinus_tumor "DO"]
synonym: "childhood endodermal sinus neoplasm" EXACT []
synonym: "childhood endodermal sinus tumour" EXACT []
synonym: "paediatric Yolk Sac tumour" EXACT []
synonym: "pediatric Yolk Sac tumor" RELATED []
xref: NCI:C27364
xref: RDO:9004278
is_a: DOID:1911 ! endodermal sinus tumor
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5343
name: central nervous system endodermal sinus tumor
synonym: "central nervous system endodermal sinus tumour" EXACT []
synonym: "childhood central nervous system endodermal sinus neoplasm" EXACT []
synonym: "paediatric central nervous system Yolk Sac tumour" EXACT []
synonym: "pediatric central nervous system yolk sac tumor" EXACT []
synonym: "yolk sac tumor of the CNS" EXACT []
synonym: "yolk sac tumour of the CNS" EXACT []
xref: NCI:C6209
xref: NCI:C7011
is_a: DOID:1911 ! endodermal sinus tumor
is_a: DOID:4439 ! central nervous system germ cell tumor
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5344
name: testicular yolk sac tumor
synonym: "testicular Yolk Sac neoplasm" EXACT [NCI2004_11_17:C8000]
xref: EFO:1000574
xref: GARD:348
xref: NCI:C8000
is_a: DOID:5345 ! testicular non-seminomatous germ cell cancer

[Term]
id: DOID:5345
name: testicular non-seminomatous germ cell cancer
synonym: "malignant non-seminomatous germ cell tumor of testis" EXACT []
xref: NCI:C5027
is_a: DOID:5556 ! testicular malignant germ cell cancer

[Term]
id: DOID:5348
name: adult endodermal sinus tumor
def: "An endodermal sinus tumor that occurs in adults. (DO)" [http://en.wikipedia.org/wiki/Endodermal_sinus_tumor "DO"]
synonym: "adult endodermal sinus neoplasm" EXACT []
synonym: "adult Yolk Sac neoplasm" EXACT [NCI2004_11_17:C27241]
xref: NCI:C27241
xref: RDO:9004280
is_a: DOID:1911 ! endodermal sinus tumor
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5349
name: central nervous system adult germ cell tumor
synonym: "central nervous system adult germ cell tumour" EXACT []
synonym: "germ cell tumor of the adult CNS" EXACT [NCI2004_11_17:C6285]
synonym: "germ cell tumour of the adult CNS" EXACT []
xref: NCI:C6285
is_a: DOID:4439 ! central nervous system germ cell tumor

[Term]
id: DOID:535
name: sleep disorder
def: "A disease of mental health that involves disruption of sleep patterns. (DO)" [http://en.wikipedia.org/wiki/Sleep_disorder "DO"]
synonym: "long sleeper syndrome" EXACT []
synonym: "non-organic sleep disorder" EXACT []
synonym: "Sleep Disorders" EXACT []
synonym: "SLEEP DISTURBANCE" RELATED []
synonym: "Sleep Related Neurogenic Tachypnea" EXACT []
synonym: "Sleep-Related Neurogenic Tachypneas" EXACT []
synonym: "Sleep Wake Disorder" EXACT []
synonym: "Sleep Wake Disorders" EXACT []
synonym: "subwakefullness syndrome" EXACT []
xref: EFO:0008568
xref: ICD9CM:307.4
xref: MESH:D012893
is_a: DOID:150 ! disease of mental health
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:5350
name: ovarian endodermal sinus tumor
def: "An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo. (DO)" [https://en.wikipedia.org/wiki/Endodermal_sinus_tumor "DO"]
synonym: "Endodermal sinus tumor of ovary" EXACT [SNOMEDCT_2005_07_31:254876005]
synonym: "Endodermal sinus tumour of ovary" EXACT []
synonym: "ovarian endodermal sinus tumour" EXACT []
synonym: "Ovarian Yolk Sac tumor" EXACT [NCI2004_11_17:C8107]
synonym: "Ovarian Yolk Sac tumour" EXACT []
xref: EFO:1000437
xref: NCI:C8107
xref: RDO:9005068
is_a: DOID:5351 ! ovarian primitive germ cell tumor
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:5351
name: ovarian primitive germ cell tumor
def: "A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24576031 "DO"]
xref: MONDO:0003408
xref: NCI:C39986
is_a: DOID:2155 ! malignant ovarian germ cell neoplasm
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5353
name: colonic disease
def: "A intestinal disease located in the colon. (DO)" [https://www.nature.com/subjects/colonic-diseases "DO"]
synonym: "colon disorder" EXACT []
synonym: "Colon Dysplasia" NARROW []
synonym: "colonic diseases" EXACT []
xref: EFO:1000183
xref: MESH:D003108
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:5362
name: focal epithelial hyperplasia
def: "A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity. (DO)" [https://en.wikipedia.org/wiki/Heck%27s_disease "DO"]
synonym: "focal epithelial hyperplasia of the oral mucosa" EXACT []
synonym: "focal epithelial hyperplasia, oral" EXACT []
synonym: "Focal Epithelial Hyperplasias" EXACT []
synonym: "Heck's disease" EXACT []
synonym: "Heck Disease" EXACT []
synonym: "Hecks disease" EXACT []
synonym: "multifocal epithelial hyperplasia" EXACT []
xref: EFO:0007275
xref: MESH:C565008
xref: MESH:D017573
xref: MIM:136400
xref: MIM:229045
xref: MONDO:0009237
xref: NCI:C97083
is_a: DOID:403 ! mouth disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:5363
name: myxoid liposarcoma
alt_id: MIM:613488
def: "A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8913727 "DO"]
synonym: "myxoid/round cell liposarcoma" EXACT []
synonym: "myxoid liposarcomas" EXACT []
xref: EFO:0000613
xref: GARD:7157
xref: ICDO:8852/3
xref: MESH:D018208
xref: ORDO:99967
is_a: DOID:3382 ! liposarcoma

[Term]
id: DOID:5364
name: pulmonary coin lesion
def: "A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." [MESH:D003074]
synonym: "Coin lesion lung" EXACT [MTHICD9_2006:793.1]
synonym: "Coin lesion of lung" EXACT []
synonym: "Pulmonary Coin Lesions" EXACT []
synonym: "Solitary Pulmonary Nodule" EXACT []
synonym: "Solitary Pulmonary Nodules" EXACT []
xref: EFO:1001133
xref: ICD10CM:R91.1
xref: MESH:D003074
xref: RDO:0005231
is_a: DOID:3683 ! lung benign neoplasm

[Term]
id: DOID:5368
name: Wolffian duct adenocarcinoma
def: "A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. (DO)" [https://rarediseases.info.nih.gov/diseases/8680/wolffian-tumor "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4230074/ "DO"]
synonym: "cervical mesonephric adenocarcinoma" EXACT []
xref: NCI:C40254
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:3702 ! cervical adenocarcinoma
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:5370
name: breast hemangiopericytoma
def: "A hemangiopericytoma that is manifested in the breast. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25688313/ "DO"]
synonym: "hemangiopericytoma of the breast" EXACT []
xref: NCI:C40396
is_a: DOID:264 ! hemangiopericytoma
is_a: DOID:3017 ! breast sarcoma
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:5373
name: retroperitoneal hemangiopericytoma
xref: NCI:C5386
is_a: DOID:264 ! hemangiopericytoma
is_a: DOID:9004476 ! Retroperitoneal Neoplasms
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:5374
name: pilomatrixoma
alt_id: MIM:132600
def: "A tumor composed of cells resembling those of the hair matrix, which undergo 'mummification' and may calcify. It is a relatively uncommon tumor, which may occur at any age from infancy. The majority of patients are under 20, and females are affected more than males. The lesion is usually a solitary deep dermal or subcutaneous tumor 3-30 mm in diameter, situated in the head, neck, or upper extremity. (From Rook et al., Textbook of Dermatology, 4th ed, p2401)" [MESH:D018296]
synonym: "benign pilomatricoma" EXACT []
synonym: "benign pilomatrixoma" EXACT []
synonym: "Calcifying Epithelioma of Malherbe" EXACT []
synonym: "Epithelioma Calcificans Of Malherbe" EXACT []
synonym: "Malherbe calcifying epithelioma" EXACT []
synonym: "pilomatricoma" EXACT []
synonym: "PTR" EXACT []
xref: EFO:0009082
xref: GARD:9452
xref: MESH:D018296
xref: NCI:C7368
is_a: DOID:5375 ! hair follicle neoplasm
is_a: DOID:9003929 ! Basal Cell Neoplasms

[Term]
id: DOID:5375
name: hair follicle neoplasm
def: "An uncontrolled autonomous cell-proliferation originating in a hair follicle. (HPO)" []
synonym: "hair matrix neoplasm" EXACT []
synonym: "hair matrix tumour" EXACT []
xref: NCI:C7367
is_a: DOID:3165 ! skin benign neoplasm

[Term]
id: DOID:5376
name: skin pilomatrix carcinoma
synonym: "malignant pilomatricoma" EXACT []
synonym: "pilomatrix carcinoma of skin" EXACT []
xref: NCI:C4114
is_a: DOID:3451 ! skin carcinoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:5378
name: hemoglobin D disease
synonym: "Hb-D disease" EXACT []
synonym: "HEMOGLOBIN D (GRANADA)" RELATED []
xref: ICD10CM:D58.2
xref: NCI:C35344
is_a: DOID:2860 ! hemoglobinopathy
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:5379
name: hemoglobin E disease
synonym: "Hb-E disease" EXACT []
xref: EFO:0004523
xref: GARD:2641
xref: MONDO:0016243
xref: NCI:C35287
is_a: DOID:2860 ! hemoglobinopathy
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:538
name: internuclear ophthalmoplegia
synonym: "internuclear ophthalmoplegias" EXACT []
xref: ICD10CM:H51.2
xref: ICD9CM:378.86
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:540 ! strabismus

[Term]
id: DOID:5381
name: bile duct adenoma
def: "A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. (DO)" [https://www.sciencedirect.com/topics/medicine-and-dentistry/bile-duct-adenoma "DO"]
synonym: "Bile Duct Adenomas" EXACT []
synonym: "cholangioadenoma" EXACT []
synonym: "Cholangioma" EXACT []
synonym: "Cholangiomas" EXACT []
xref: EFO:1000123
xref: ICDO:8160/0
xref: MESH:D002759
xref: NCI:C2942
is_a: DOID:657 ! adenoma
is_a: DOID:9002936 ! Bile Duct Neoplasms

[Term]
id: DOID:5382
name: Bartholin's gland adenoma
def: "A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue. (DO)" [https://en.wikipedia.org/wiki/Adenoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/18152506 "DO"]
synonym: "Bartholin gland adenoma" EXACT []
xref: NCI:C40299
is_a: DOID:2068 ! Bartholin's gland benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5384
name: bile duct cystadenoma
def: "A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106371/ "DO"]
synonym: "cystadenoma of the bile duct" EXACT []
xref: ICDO:8161/0
xref: MONDO:0003420
xref: NCI:C4129
is_a: DOID:2634 ! cystadenoma
is_a: DOID:5381 ! bile duct adenoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5385
name: mixed cell adenoma
def: "An adenoma that has_material_basis_in more than one cell type. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25002356 "DO"]
xref: ICDO:8323/0
xref: NCI:C4157
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5386
name: lung adenoma
def: "A lung benign neoplasm that derives_from glandular epithelial cells. (DO)" [https://www.lungcancer.org/find_information/publications/163-lung_cancer_101/268-types_and_staging "DO"]
synonym: "adenoma of lung" EXACT []
synonym: "pulmonary adenoma" EXACT []
xref: NCI:C4455
is_a: DOID:3683 ! lung benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:5387
name: middle ear adenoma
def: "A sensory organ benign neoplasm that is located_in the middle ear. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25741045 "DO"]
synonym: "adenoma of middle ear" EXACT []
synonym: "adenoma of the middle ear" EXACT []
xref: NCI:C6834
is_a: DOID:0080619 ! auditory system benign neoplasm
is_a: DOID:5100 ! middle ear disease
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5389
name: oxyphilic adenoma
def: "A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." [MESH:D018249]
synonym: "follicular adenoma, oxyphilic cell" EXACT []
synonym: "Huerthle cell tumor" EXACT []
synonym: "Hurthle Cell Tumor" EXACT []
synonym: "oncocytoma" EXACT []
xref: EFO:1001079
xref: MESH:D018249
xref: NCI:C3759
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:657 ! adenoma

[Term]
id: DOID:539
name: ophthalmoplegia
def: "Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles." [MESH:D009886]
synonym: "External Ophthalmoplegia" EXACT []
synonym: "external ophthalmoplegias" EXACT []
synonym: "extraocular muscle paralysis" EXACT []
synonym: "eye movement paralysis" EXACT []
synonym: "Internal Ophthalmoplegia" EXACT []
synonym: "Internal Ophthalmoplegias" EXACT []
synonym: "Oculomotor Paralysis" EXACT []
synonym: "Ophthalmopareses" EXACT []
synonym: "Ophthalmoparesis" EXACT []
synonym: "OPHTHALMOPLEGIA, ISOLATED" NARROW []
synonym: "Ophthalmoplegias" EXACT []
synonym: "total ophthalmoplegia" EXACT []
xref: ICD9CM:378.56
xref: MESH:D009886
xref: NCI:C79697
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:9005246 ! Paralysis

[Term]
id: DOID:5390
name: clear cell adenoma
def: "An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4151 "DO"]
synonym: "Borderline Ovarian Clear Cell Tumor" NARROW []
xref: EFO:1000136
xref: ICDO:8310/0
xref: MONDO:0003426
xref: NCI:C4151
is_a: DOID:0060086 ! female reproductive organ benign neoplasm
is_a: DOID:0060112 ! ovarian benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5391
name: bronchus adenoma
synonym: "adenoma of the bronchus" EXACT []
synonym: "bronchial adenoma" EXACT []
xref: NCI:C3494
is_a: DOID:3906 ! bronchial benign neoplasm
is_a: DOID:5386 ! lung adenoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:5392
name: acidophil adenoma
def: "A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" [MESH:D000239]
synonym: "acidophil adenomas" EXACT []
synonym: "Acidophilic Adenoma" EXACT []
synonym: "Acidophilic Adenomas" EXACT []
synonym: "Eosinophil Adenoma" EXACT []
synonym: "Eosinophil Adenomas" EXACT []
synonym: "Eosinophilic Adenoma" EXACT []
synonym: "eosinophilic adenomas" EXACT []
xref: EFO:1000791
xref: ICDO:8280/0
xref: MESH:D000239
xref: NCI:C6780
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:3829 ! pituitary adenoma
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:5393
name: brain angioma
xref: NCI:C7739
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:2517 ! intracranial structure hemangioma
is_a: DOID:6713 ! cerebrovascular disease

[Term]
id: DOID:5394
name: prolactinoma
def: "A pituitary adenoma which secretes PROLACTIN, leading to HYPERPROLACTINEMIA. Clinical manifestations include AMENORRHEA; GALACTORRHEA; IMPOTENCE; HEADACHE; visual disturbances; and CEREBROSPINAL FLUID RHINORRHEA." [MESH:D015175]
synonym: "lactotroph adenoma" EXACT []
synonym: "lactotroph adenomas" EXACT []
synonym: "Macroprolactinoma" EXACT []
synonym: "macroprolactinomas" EXACT []
synonym: "Microprolactinoma" EXACT []
synonym: "microprolactinomas" EXACT []
synonym: "PRL Secreting Pituitary Adenoma" EXACT []
synonym: "PRL-Secreting Pituitary Adenomas" EXACT []
synonym: "Prolactinoma, Familial" EXACT []
synonym: "prolactinoma of pituitary gland" EXACT []
synonym: "prolactinomas" EXACT []
synonym: "prolactin-producing pituitary adenoma" EXACT []
synonym: "prolactin-producing pituitary adenomas" EXACT []
synonym: "prolactin secreting pituitary adenoma" EXACT []
xref: EFO:1000496
xref: GARD:4508
xref: MESH:D015175
xref: NCI:C3342
is_a: DOID:5395 ! functioning pituitary adenoma

[Term]
id: DOID:5395
name: functioning pituitary adenoma
synonym: "Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma" NARROW []
synonym: "secretory adenoma of the pituitary gland" EXACT []
xref: EFO:1000383
xref: NCI:C8388
is_a: DOID:3829 ! pituitary adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5396
name: prolactin producing pituitary tumor
def: "A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C7910 "DO"]
synonym: "malignant Prolactinoma" EXACT []
synonym: "malignant prolactin producing neoplasm of pituitary gland" EXACT []
synonym: "Prolactin-Producing Pituitary Gland Carcinoma" EXACT []
synonym: "prolactin producing pituitary tumour" EXACT []
synonym: "prolactin secreting tumor of pituitary" EXACT []
synonym: "Prolactin Secreting tumour of Pituitary" EXACT []
xref: EFO:1000497
xref: NCI:C5962
is_a: DOID:4916 ! pituitary carcinoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5398
name: lipoadenoma
def: "An adenoma that is composed_of epithelial cells admixed with adipose tissue cells. (DO)" [http://en.wiktionary.org/wiki/lipoadenoma "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4159 "DO"]
xref: ICDO:8324/0
xref: NCI:C4159
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:0060123 ! connective tissue benign neoplasm
is_a: DOID:3315 ! lipoma
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:540
name: strabismus
alt_id: MIM:185100
def: "A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object. (DO)" [https://en.wikipedia.org/wiki/Strabismus "DO"]
synonym: "Comitant Strabismus" EXACT []
synonym: "CONGENITAL STRABISMUS" NARROW []
synonym: "Convergent Comitant Strabismus" EXACT []
synonym: "Noncomitant Strabismus" EXACT []
synonym: "Phoria" EXACT []
synonym: "phorias" EXACT []
synonym: "squint" EXACT []
synonym: "STBMS1" RELATED []
synonym: "strabismus, susceptibility to" RELATED []
synonym: "strabismus, susceptibility to, 1" RELATED []
xref: ICD10CM:H50.8
xref: ICD9CM:378.7
xref: MESH:D013285
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:9834 ! hyperopia

[Term]
id: DOID:5401
name: water-clear cell adenoma
def: "An adenoma that derives_from epithelial cells which have clear cytoplasm. (DO)" [https://www.pathologyoutlines.com/topic/parathyroidwaterclearadenoma.html "DO"]
xref: ICDO:8322/0
xref: NCI:C4155
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5402
name: vaginal adenoma
def: "A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin. (DO)" [https://en.wikipedia.org/wiki/Adenoma "DO"]
xref: NCI:C40256
is_a: DOID:0060114 ! vaginal benign neoplasm
is_a: DOID:657 ! adenoma

[Term]
id: DOID:5403
name: microcystic adenoma
def: "A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells. (DO)" [http://surgpathcriteria.stanford.edu/pancreas/serous_microcystic_adenoma/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/15559952 "DO"]
synonym: "microcystic adenomas" EXACT []
xref: ICDO:8202/0
xref: NCI:C3685
is_a: DOID:3918 ! pancreatic cystadenoma
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:5408
name: Paget's disease of bone
alt_id: MESH:C538098
def: "A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. (DO)" [http://en.wikipedia.org/wiki/Paget%27s_disease_of_bone "DO", http://orthoinfo.aaos.org/topic.cfm?topic=A00076 "DO", http://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485 "DO", http://www.nlm.nih.gov/medlineplus/pagetsdiseaseofbone.html "DO", https://pubmed.ncbi.nlm.nih.gov/37180975/ "DO"]
synonym: "familial Paget's disease of bone" RELATED []
synonym: "Osseous Paget's Disease" EXACT []
synonym: "Osteitis Deformans" EXACT []
synonym: "Paget's bone disease" EXACT []
synonym: "Paget disease, bone" EXACT []
synonym: "Paget disease of bone" EXACT []
synonym: "Paget disease of bone 1" RELATED []
synonym: "Paget disease of bone, familial" EXACT []
synonym: "Paget disease of bone, type 1" RELATED []
synonym: "Pagets bone disease" EXACT []
xref: EFO:0004261
xref: GARD:8615
xref: ICD10CM:M88
xref: MESH:D010001
xref: MIM:PS167250
xref: NCI:C3292
xref: ORDO:280110
is_a: DOID:205 ! hyperostosis

[Term]
id: DOID:5409
name: lung small cell carcinoma
alt_id: DOID:0050875
def: "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung. (DO)" [http://en.wikipedia.org/wiki/Small-cell_carcinoma "DO"]
synonym: "oat cell carcinoma of lung" EXACT []
synonym: "oat cell lung cancer" EXACT []
synonym: "small cell cancer of the lung" EXACT []
synonym: "small cell carcinoma of lung" EXACT []
synonym: "small cell lung cancer" EXACT []
synonym: "small cell neuroendocrine carcinoma" EXACT []
synonym: "small cell neuroendocrine carcinoma of lung" EXACT []
xref: EFO:0000702
xref: MESH:D055752
xref: NCI:C188988
xref: NCI:C4917
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:1800 ! neuroendocrine carcinoma
is_a: DOID:3904 ! bronchus carcinoma
is_a: DOID:3905 ! lung carcinoma

[Term]
id: DOID:5410
name: pulmonary neuroendocrine tumor
xref: EFO:0005220
xref: NCI:C5670
is_a: DOID:1324 ! lung cancer
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:5411
name: lung oat cell carcinoma
synonym: "poorly differentiated endocrine neoplasm" EXACT []
xref: EFO:0000702
xref: NCI:C3915
is_a: DOID:5409 ! lung small cell carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5414
name: lung occult small cell carcinoma
synonym: "occult small cell carcinoma of lung" EXACT []
synonym: "occult small cell carcinoma of the lung" EXACT []
xref: NCI:C6683
is_a: DOID:5409 ! lung small cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:5418
name: schizoaffective disorder
alt_id: RDO:9003378
def: "A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. (DO)" [http://en.wikipedia.org/wiki/Schizoaffective_disorder "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000930.htm "DO"]
synonym: "schizoaffective disorders" EXACT []
xref: EFO:0005411
xref: ICD10CM:F25
xref: ICD9CM:295.7
xref: NCI:C94378
is_a: DOID:2468 ! psychotic disorder
is_a: DOID:9006501 ! Psychotic Affective Disorders
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5419
name: schizophrenia
def: "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. (DO)" [http://en.wikipedia.org/wiki/Schizophrenia "DO"]
synonym: "CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM" RELATED []
synonym: "dementia praecox" EXACT []
synonym: "schizophrenia-1" EXACT []
synonym: "schizophrenias" EXACT []
synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED" EXACT []
synonym: "Schizophrenia, Susceptibility To" RELATED []
synonym: "schizophrenia with or without an affective disorder" EXACT []
synonym: "schizophrenic disorder" EXACT []
synonym: "schizophrenic disorders" EXACT []
synonym: "SCZD" EXACT []
xref: EFO:0000692
xref: ICD10CM:F20
xref: ICD9CM:295
xref: MESH:D012559
xref: MIM:181500
xref: MONDO:0005090
xref: NCI:C3362
xref: ORDO:3140
is_a: DOID:2468 ! psychotic disorder

[Term]
id: DOID:5421
name: lung combined type small cell carcinoma
def: "A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. (DO)" [http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma "DO"]
synonym: "combined small cell carcinoma of the lung" EXACT []
synonym: "combined type small cell carcinoma of lung" EXACT []
xref: NCI:C9137
is_a: DOID:5409 ! lung small cell carcinoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:5425
name: ovarian hyperstimulation syndrome
alt_id: MIM:276400
alt_id: MIM:608115
def: "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3205536/ "DO"]
synonym: "OHSS" EXACT []
synonym: "ovarian hyperstimulation syndrome, familial gestational spontaneous" EXACT []
synonym: "Ovarian Hyperstimulation Syndromes" EXACT []
synonym: "ovarian response to FSH stimulation" EXACT []
synonym: "secondary Meig's syndrome" EXACT []
xref: MESH:D016471
is_a: DOID:1100 ! ovarian disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:5426
name: primary ovarian insufficiency
def: "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. (DO)" [http://en.wikipedia.org/wiki/Premature_ovarian_failure "DO", https://pubmed.ncbi.nlm.nih.gov/27861765/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477642/ "DO"]
synonym: "fragile X associated primary ovarian insufficiency" NARROW []
synonym: "fragile X premature ovarian failure" NARROW []
synonym: "gonadotropin resistant ovary syndrome" EXACT []
synonym: "POF" EXACT []
synonym: "POFX" NARROW []
synonym: "premature ovarian failure" EXACT []
synonym: "premature ovarian insufficiency" EXACT []
synonym: "resistant ovary syndrome" EXACT []
synonym: "X-linked hypergonadotropic ovarian failure" NARROW []
synonym: "X-linked premature ovarian failure" NARROW []
xref: EFO:0004266
xref: ICD10CM:E28.3
xref: MESH:D016649
xref: MIM:PS311360
xref: NCI:C113352
xref: ORDO:619
is_a: DOID:9006101 ! Primary Ovarian Failure

[Term]
id: DOID:5427
name: urinary bladder villous adenoma
synonym: "villous adenoma of urinary bladder" EXACT []
xref: NCI:C7414
is_a: DOID:0050623 ! bladder benign neoplasm
is_a: DOID:0050869 ! villous adenoma
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:5429
name: bladder flat intraepithelial lesion
synonym: "flat intraepithelial lesion of the urinary bladder" EXACT []
xref: EFO:1000126
xref: NCI:C37266
xref: RDO:9005053
is_a: DOID:0050623 ! bladder benign neoplasm
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:543
name: dystonia
alt_id: MESH:D020821
def: "A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. (DO)" [https://rarediseases.org/rare-diseases/dystonia/ "DO", https://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/syc-20350480 "DO", https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/dystonias-fact-sheet "DO"]
synonym: "adult-onset dystonia" EXACT []
synonym: "adult onset dystonias" EXACT []
synonym: "adult onset idiopathic focal dystonias" EXACT []
synonym: "adult onset idiopathic torsion dystonias" EXACT []
synonym: "autosomal dominant familial dystonia" EXACT []
synonym: "Autosomal Recessive Familial Dystonia" EXACT []
synonym: "Childhood Onset Dystonia" EXACT []
synonym: "childhood onset dystonias" EXACT []
synonym: "diurnal dystonia" EXACT []
synonym: "dystonia 1" NARROW []
synonym: "Dystonia 1, torsion, modifier of" RELATED []
synonym: "Dystonia Disorder" EXACT []
synonym: "dystonia disorders" EXACT []
synonym: "dystonic disease" EXACT []
synonym: "Dystonic Disorder" EXACT []
synonym: "Dystonic Disorders" EXACT []
synonym: "Familial Dystonia" EXACT []
synonym: "Familial Dystonias" EXACT []
synonym: "Hereditary Dystonia" EXACT []
synonym: "Hereditary Dystonias" EXACT []
synonym: "Idiopathic Familial Dystonia" EXACT []
synonym: "Idiopathic Familial Dystonias" EXACT []
synonym: "Limb Dystonia" EXACT []
synonym: "Muscle Dystonia" EXACT []
synonym: "paroxysmal dystonia" EXACT []
synonym: "Primary Dystonia" EXACT []
synonym: "Primary Dystonias" EXACT []
synonym: "Pseudodystonia" EXACT []
synonym: "Pseudodystonias" EXACT []
synonym: "Psychogenic Dystonia" EXACT []
synonym: "Psychogenic Dystonias" EXACT []
synonym: "regression of motor development with severe dystonia and corresponding basal ganglia lesions" NARROW []
synonym: "secondary dystonia" EXACT []
synonym: "secondary dystonias" EXACT []
synonym: "sporadic dystonia" EXACT []
synonym: "sporadic dystonias" EXACT []
synonym: "TSPOAP1-RELATED DYSTONIA" NARROW []
synonym: "writer's cramp" EXACT []
synonym: "writer cramp" EXACT []
synonym: "writers cramp" EXACT []
xref: ICD10CM:G24
xref: MESH:D004421
xref: MIM:PS128100
xref: MIM:PS128200
xref: NCI:C34563
is_a: DOID:480 ! movement disease
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:5432
name: bladder papillary transitional cell neoplasm
synonym: "urinary bladder papillary urothelial neoplasm" EXACT []
xref: NCI:C39857
is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5433
name: urinary tract papillary transitional cell benign neoplasm
synonym: "inverted papilloma of urinary tract" EXACT []
synonym: "papillary transitional cell neoplasm of the urinary tract" EXACT []
synonym: "urinary tract inverted papilloma" EXACT []
synonym: "Urothelial Dysplasia" NARROW []
xref: EFO:1000611
xref: NCI:C27883
xref: NCI:C6192
is_a: DOID:4630 ! inverted transitional papilloma
is_a: DOID:731 ! urinary system benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5434
name: scrapie
def: "A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS." [MESH:D012608]
synonym: "Rida" EXACT []
xref: EFO:1001168
xref: MESH:D012608
is_a: DOID:649 ! prion disease
is_a: DOID:9006097 ! Sheep Diseases

[Term]
id: DOID:5435
name: variant Creutzfeldt-Jakob disease
def: "A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)" [MESH:D016643]
synonym: "Bovine Spongiform Encephalitis" EXACT []
synonym: "bovine spongiform encephalopathy" EXACT []
synonym: "BSE (Bovine Spongiform Encephalopathy)" EXACT []
synonym: "BSEs (Bovine Spongiform Encephalopathy)" EXACT []
synonym: "Mad Cow Disease" EXACT []
synonym: "Mad Cow Diseases" EXACT []
synonym: "variant CREUTZFELDT-JAKOB SYNDROME" EXACT []
xref: EFO:0004597
xref: EFO:1001233
xref: MESH:D016643
is_a: DOID:649 ! prion disease
is_a: DOID:9004723 ! Cattle Diseases

[Term]
id: DOID:5437
name: intrahepatic bile duct adenoma
def: "A bile duct adenoma located_in an intrahepatic bile duct. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26191317/ "DO", https://pubmed.ncbi.nlm.nih.gov/31149539/ "DO", https://pubmed.ncbi.nlm.nih.gov/31798791/ "DO"]
synonym: "adenoma of intrahepatic bile duct" EXACT []
synonym: "adenoma of the intrahepatic bile duct" EXACT []
xref: NCI:C7126
is_a: DOID:5381 ! bile duct adenoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5438
name: extrahepatic bile duct adenoma
def: "A bile duct adenoma that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium. (DO)" [http://www.joplink.net/prev/200803/08.html "DO"]
synonym: "adenoma of extrahepatic bile duct" EXACT []
synonym: "adenoma of the extrahepatic bile duct" EXACT []
xref: NCI:C5857
is_a: DOID:5381 ! bile duct adenoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5439
name: papillary hidradenoma
synonym: "MESH:D000074009" EXACT []
xref: ICDO:8405/0
xref: NCI:C4171
is_a: DOID:3896 ! hidradenoma

[Term]
id: DOID:5442
name: eccrine acrospiroma
def: "A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." [MESH:D018250]
synonym: "acrospiroma" EXACT []
synonym: "acrospiromas" EXACT []
synonym: "clear cell hidradrenoma" EXACT []
synonym: "clear-cell hidradrenomas" EXACT []
synonym: "eccrine acrospiromas" EXACT []
synonym: "eccrine hidradenoma" EXACT []
synonym: "eccrine hidradenoma of skin" EXACT []
synonym: "nodular hidradrenoma" EXACT []
synonym: "nodular hidradrenomas" EXACT []
synonym: "solid cystic hidradenoma" EXACT []
xref: EFO:1000912
xref: MESH:D018250
xref: MONDO:0006738
xref: NCI:C7568
is_a: DOID:173 ! eccrine sweat gland neoplasm
is_a: DOID:5443 ! clear cell hidradenoma

[Term]
id: DOID:5443
name: clear cell hidradenoma
synonym: "clear cell myoepithelioma" EXACT []
xref: NCI:C7567
is_a: DOID:3896 ! hidradenoma

[Term]
id: DOID:5444
name: spiradenoma
synonym: "benign eccrine spiradenoma" EXACT []
synonym: "Eccrine spiradenoma" EXACT [SNOMEDCT_2005_07_31:4977000]
synonym: "Eccrine spiradenoma of skin" EXACT [SNOMEDCT_2005_07_31:403938001]
xref: ICDO:8403/0
xref: NCI:C4170
xref: RDO:9004534
is_a: DOID:5876 ! apocrine sweat gland neoplasm
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5445
name: syringocystadenoma papilliferum
synonym: "papillary syringadenoma" EXACT []
xref: EFO:1000558
xref: GARD:5100
xref: ICDO:8406/0
xref: NCI:C4172
is_a: DOID:5876 ! apocrine sweat gland neoplasm
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5446
name: eccrine papillary adenoma
def: "A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time. (DO)" [http://pubs.sciepub.com/ajmcr/4/9/3/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29582790 "DO"]
synonym: "eccrine papillary adenoma of skin" EXACT []
xref: GARD:10463
xref: ICDO:8408/0
xref: NCI:C4173
is_a: DOID:173 ! eccrine sweat gland neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5453
name: pulmonary venoocclusive disease
def: "A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. (DO)" [https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease/ "DO", https://pubmed.ncbi.nlm.nih.gov/27009171/ "DO", https://pubmed.ncbi.nlm.nih.gov/28118962/ "DO", https://pubmed.ncbi.nlm.nih.gov/32252933/ "DO", MESH:D011668]
comment: OMIM has split this term into two subtypes. (DO)
synonym: "pulmonary veno-occlusive disease" EXACT []
synonym: "pulmonary veno-occlusive diseases" EXACT []
synonym: "pulmonary venoocclusive diseases" EXACT []
synonym: "PVOD" EXACT []
xref: GARD:10153
xref: MESH:D011668
xref: MIM:PS265450
xref: NCI:C85039
xref: ORDO:31837
is_a: DOID:6432 ! pulmonary hypertension

[Term]
id: DOID:5457
name: laryngeal neuroendocrine tumor
synonym: "laryngeal neuroendocrine tumour" EXACT []
synonym: "neuroendocrine tumor of larynx" EXACT []
synonym: "neuroendocrine tumour of larynx" EXACT []
xref: NCI:C6023
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:2596 ! larynx cancer
is_a: DOID:2598 ! laryngeal benign neoplasm
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5463
name: cochlear disease
def: "Pathological processes of the snail-like structure (COCHLEA) of the inner ear (LABYRINTH) which can involve its nervous tissue, blood vessels, or fluid (ENDOLYMPH)." [MESH:D015834]
synonym: "cochlear diseases" EXACT []
xref: MESH:D015834
xref: RDO:0006926
is_a: DOID:2952 ! inner ear disease

[Term]
id: DOID:5465
name: conjunctival intraepithelial neoplasm
def: "A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772848/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/27584160 "DO"]
synonym: "intraepithelial neoplasia of conjunctiva" EXACT []
xref: NCI:C6120
is_a: DOID:0060071 ! pre-malignant neoplasm
is_a: DOID:9008245 ! Conjunctival Neoplasms
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5467
name: conjunctival cancer
synonym: "conjunctival tumor" EXACT []
synonym: "malignant conjunctival tumor" EXACT []
synonym: "malignant neoplasm of conjunctiva" EXACT []
synonym: "malignant tumor of conjunctiva" EXACT []
synonym: "neoplasm of conjunctiva" EXACT []
xref: ICD10CM:C69.0
xref: ICD9CM:190.3
xref: NCI:C2961
xref: NCI:C3564
is_a: DOID:2174 ! ocular cancer
is_a: DOID:9008245 ! Conjunctival Neoplasms
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:5468
name: biliary papillomatosis
def: "A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21988050 "DO"]
synonym: "bile duct papillomatosis" EXACT []
xref: NCI:C65198
is_a: DOID:0050625 ! biliary tract benign neoplasm
is_a: DOID:2615 ! papilloma
is_a: DOID:9002936 ! Bile Duct Neoplasms
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5469
name: biliary tract intraductal papillary mucinous neoplasm
xref: NCI:C37215
xref: RDO:9003853
is_a: DOID:0050625 ! biliary tract benign neoplasm
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5474
name: ovarian serous adenofibroma
def: "An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26881611 "DO"]
xref: EFO:1000428
xref: NCI:C40031
is_a: DOID:0060112 ! ovarian benign neoplasm

[Term]
id: DOID:5475
name: uterine corpus adenofibroma
def: "An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://jcp.bmj.com/content/63/4/377.1.short "DO"]
synonym: "adenofibroma of corpus uteri" EXACT []
synonym: "adenofibroma of uterine corpus" EXACT []
xref: NCI:C6337
xref: RDO:9005003
is_a: DOID:0060095 ! uterine benign neoplasm
is_a: DOID:2683 ! adenofibroma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:5476
name: cervical adenofibroma
def: "A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12410376 "DO"]
xref: NCI:C40230
is_a: DOID:0060110 ! cervical benign neoplasm

[Term]
id: DOID:5477
name: clear cell adenofibroma
def: "An adenofibroma that is characterized by the presence of cells with clear cytoplasm. (DO)" [http://www.jcancer.org/v02p0094.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/24721826 "DO"]
synonym: "clear cell adenofibromas" EXACT []
xref: ICDO:8313/0
is_a: DOID:2683 ! adenofibroma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:5478
name: fallopian tube adenofibroma
def: "A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4246679/ "DO"]
xref: NCI:C40113
xref: RDO:9005005
is_a: DOID:0060111 ! fallopian tube benign neoplasm
is_a: DOID:2683 ! adenofibroma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:5479
name: papillary adenofibroma
def: "An adenofibroma that is characterized by finger-like projections on histology. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1595599 "DO"]
xref: NCI:C8986
is_a: DOID:2683 ! adenofibroma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:5480
name: ovarian endometrioid adenofibroma
def: "An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9631607 "DO"]
xref: NCI:C27287
is_a: DOID:0060112 ! ovarian benign neoplasm

[Term]
id: DOID:5482
name: cystadenofibroma
def: "An ovarian benign neoplasm that is composed_of epithelial ovarian tissue. (DO)" [http://www.ajronline.org/cgi/content/full/182/5/1259 "DO"]
synonym: "benign clear cell adenofibroma" EXACT []
synonym: "benign cystadenofibroma" EXACT []
synonym: "benign cystadenofibromas" EXACT []
synonym: "borderline clear cell adenofibroma" EXACT []
synonym: "borderline cystadenofibroma" EXACT []
synonym: "borderline cystadenofibromas" EXACT []
synonym: "cystadenofibromas" EXACT []
xref: MESH:D062625
xref: NCI:C8985
xref: NCI:C8987
is_a: DOID:0060112 ! ovarian benign neoplasm
is_a: DOID:2683 ! adenofibroma
is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms

[Term]
id: DOID:5484
name: fibrous synovial sarcoma
synonym: "fibrous sarcoma of synovium" EXACT []
xref: NCI:C6533
is_a: DOID:5485 ! synovial sarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5485
name: synovial sarcoma
alt_id: MIM:300813
def: "A synovium cancer which develops in the synovial membrane of the joints. (DO)" [http://en.wikipedia.org/wiki/Synovial_sarcoma "DO", http://www.cancer.gov/dictionary?cdrid=44626 "DO"]
synonym: "primary synovial sarcoma" NARROW []
synonym: "synovial sarcomas" EXACT []
synonym: "Synovioma" EXACT []
synonym: "synoviomas" EXACT []
xref: EFO:0001376
xref: EFO:1000019
xref: GARD:7721
xref: ICDO:9040/3
xref: MESH:D013584
xref: NCI:C3400
is_a: DOID:1115 ! sarcoma
is_a: DOID:2706 ! synovium cancer
is_a: DOID:9003944 ! Connective Tissue Neoplasms

[Term]
id: DOID:5487
name: spindle cell synovial sarcoma
synonym: "monophasic fibrous synovial sarcoma" EXACT []
synonym: "synovial sarcoma with spindle cell components" EXACT []
xref: NCI:C4277
is_a: DOID:4235 ! spindle cell sarcoma
is_a: DOID:5485 ! synovial sarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5488
name: mediastinum synovial sarcoma
def: "A synovial sarcoma that is located_in the mediastinum. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2001131/ "DO"]
synonym: "synovial sarcoma of mediastinum" EXACT []
xref: NCI:C6618
is_a: DOID:4050 ! mediastinum sarcoma
is_a: DOID:5485 ! synovial sarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5492
name: biphasic synovial sarcoma
synonym: "biphasic sarcoma of synovium" EXACT []
xref: NCI:C4279
is_a: DOID:5485 ! synovial sarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5494
name: epithelioid cell synovial sarcoma
synonym: "epithelioid synovial sarcoma" EXACT []
xref: NCI:C4278
is_a: DOID:5485 ! synovial sarcoma
is_a: DOID:6193 ! epithelioid sarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5495
name: monophasic synovial sarcoma
synonym: "monophasic sarcoma of synovium" EXACT []
xref: EFO:0000595
xref: NCI:C6534
is_a: DOID:5485 ! synovial sarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5500
name: cellular ependymoma
xref: NCI:C4713
xref: NCI:C4714
xref: RDO:9004181
is_a: DOID:4844 ! benign ependymoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5501
name: Pediculus humanus capitis infestation
def: "A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability. (DO)" [http://en.wikipedia.org/wiki/Head-louse_infestation "DO", http://www.dpd.cdc.gov/dpdx/HTML/HeadLice.htm "DO"]
synonym: "head louse infestation" EXACT []
synonym: "Pediculosis capitis" EXACT []
synonym: "Pediculus capitis" EXACT []
synonym: "Pediculus capitis infestation" EXACT []
xref: ICD10CM:B85.0
xref: ICD9CM:132.0
is_a: DOID:5502 ! lice infestation
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:5502
name: lice infestation
def: "A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. (DO)" [http://en.wikipedia.org/wiki/Pediculosis "DO"]
synonym: "infestation by Pediculus" EXACT []
synonym: "lice infestations" EXACT []
synonym: "louse infestation" EXACT []
synonym: "mixed pediculosis" EXACT []
synonym: "mixed pediculosis infestation" EXACT []
synonym: "pediculoses" EXACT []
synonym: "pediculosis" EXACT []
synonym: "pediculosis + lice" EXACT []
synonym: "pediculosis and phthirus infection" EXACT []
synonym: "pediculosis and phthirus infections" EXACT []
synonym: "pediculosis and phthirus infestation" EXACT []
xref: ICD10CM:B85.2
xref: ICD9CM:132.9
xref: MESH:D010373
xref: NCI:C128401
is_a: DOID:4110 ! parasitic ectoparasitic infectious disease
is_a: DOID:9007630 ! Parasitic Skin Diseases

[Term]
id: DOID:5503
name: spinal cord ependymoma
def: "A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal. (DO)" [http://www.cancer.gov/dictionary?CdrID=46432 "DO"]
synonym: "ependymal neoplasm of the spinal cord" EXACT []
synonym: "Spinal ependymoma" EXACT []
xref: NCI:C3875
is_a: DOID:3185 ! spinal cord glioma
is_a: DOID:5074 ! high grade ependymoma
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:5504
name: tanycytic ependymoma
xref: NCI:C6903
xref: RDO:9004177
is_a: DOID:4844 ! benign ependymoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5505
name: papillary ependymoma
xref: ICDO:9393/3
xref: NCI:C4319
xref: RDO:9004598
is_a: DOID:4844 ! benign ependymoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5507
name: clear cell ependymoma
xref: RDO:9004183
is_a: DOID:4844 ! benign ependymoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5508
name: brain stem ependymoma
def: "A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells. (DO)" [https://en.wikipedia.org/wiki/Ependyma "DO", https://en.wikipedia.org/wiki/Ependymoma "DO"]
synonym: "ependymoma of the brainstem" EXACT []
xref: NCI:C5098
is_a: DOID:3185 ! spinal cord glioma
is_a: DOID:4202 ! brain stem glioma
is_a: DOID:5074 ! high grade ependymoma

[Term]
id: DOID:5509
name: childhood ependymoma
synonym: "adult intracranial ependymoma" EXACT []
synonym: "familial ependymoma" EXACT []
synonym: "pediatric ependymoma" EXACT []
xref: MESH:C531673
xref: NCI:C8578
is_a: DOID:5074 ! high grade ependymoma

[Term]
id: DOID:551
name: toxic pneumonitis
alt_id: DOID:554
def: "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. (DO)" [https://hazmap.nlm.nih.gov/category-details?id=306&table=tbldiseases "DO"]
synonym: "acute chemical fume pulmonary edema" EXACT []
synonym: "acute chemical pulmonary edema" EXACT []
xref: ICD9CM:506.9
is_a: DOID:552 ! pneumonia

[Term]
id: DOID:5510
name: pineal dysgerminoma
xref: NCI:C7169
is_a: DOID:1660 ! malignant pineal area germ cell neoplasm

[Term]
id: DOID:5511
name: dysgerminoma of ovary
def: "A dysgerminoma that is located_in the ovary. (DO)" [http://en.wikipedia.org/wiki/Dysgerminoma "DO", http://www.cancer.gov/dictionary?CdrID=672835 "DO"]
synonym: "ovarian dysgerminoma" EXACT []
xref: EFO:1000414
xref: NCI:C8106
is_a: DOID:2156 ! ovarian germ cell cancer
is_a: DOID:4441 ! dysgerminoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5513
name: Pediculus humanus corporis infestation
def: "A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000838.htm "DO"]
synonym: "body louse infestation" EXACT []
synonym: "Pediculus corporis" EXACT []
synonym: "Pediculus humanus infestation" EXACT []
xref: ICD10CM:B85.1
xref: ICD9CM:132.1
is_a: DOID:5502 ! lice infestation
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:5514
name: breast squamous cell carcinoma
def: "A breast metaplastic carcinoma that arises from squamous epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931217/ "DO"]
synonym: "breast primary squamous cell carcinoma" EXACT []
synonym: "primary squamous cell carcinoma of breast" RELATED []
synonym: "primary squamous cell carcinoma of the breast" EXACT []
synonym: "SCC of breast" EXACT []
synonym: "squamous cell carcinoma of breast" RELATED []
xref: EFO:1000053
xref: NCI:C5177
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:4680 ! breast metaplastic carcinoma

[Term]
id: DOID:5515
name: nasal cavity squamous cell carcinoma
def: "A nasal cavity carcinoma that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"]
synonym: "squamous cell carcinoma of nasal cavity" EXACT []
synonym: "squamous cell carcinoma of the nasal cavity" EXACT []
xref: EFO:1000057
xref: NCI:C8192
is_a: DOID:4931 ! nasal cavity carcinoma
is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:5516
name: gastric squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the stomach. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21113875 "DO"]
synonym: "squamous cell carcinoma of stomach" EXACT []
xref: EFO:1000278
xref: NCI:C24234
xref: NCI:C5475
is_a: DOID:5517 ! stomach carcinoma
is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:5517
name: stomach carcinoma
def: "A stomach cancer that is located_in the stomach. (DO)" [http://en.wikipedia.org/wiki/Stomach_cancer "DO"]
synonym: "carcinoma of stomach" EXACT []
synonym: "gastric carcinoma" EXACT []
synonym: "gastric non-cardia carcinoma" NARROW []
xref: EFO:0000178
xref: EFO:0008502
xref: NCI:C24225
xref: NCI:C4911
is_a: DOID:10534 ! stomach cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:5518
name: penis squamous cell carcinoma
alt_id: DOID:8008
def: "A penis carcinoma that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"]
synonym: "epidermoid cell carcinoma of penis" EXACT []
synonym: "squamous cell carcinoma of penis" EXACT []
xref: NCI:C6979
xref: NCI:C7729
xref: RDO:9002247
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:3449 ! penis carcinoma

[Term]
id: DOID:5519
name: colon squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the colon. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10211528 "DO"]
synonym: "Colonic Epidermoid carcinoma" EXACT [NCI2004_11_17:C5490]
synonym: "Colorectal Squamous Cell Carcinoma" EXACT []
synonym: "squamous cell carcinoma of colon" EXACT []
xref: EFO:1000198
xref: NCI:C5490
xref: RDO:9002373
is_a: DOID:1520 ! colon carcinoma
is_a: DOID:1749 ! squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:552
name: pneumonia
def: "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. (DO)" [http://en.wikipedia.org/wiki/Pneumonia "DO"]
synonym: "acute pneumonia" EXACT []
synonym: "Experimental Lung Inflammation" EXACT []
synonym: "experimental lung inflammations" EXACT []
synonym: "Lobar Pneumonia" EXACT []
synonym: "Lobar Pneumonias" EXACT []
synonym: "Lung Inflammation" EXACT []
synonym: "Lung Inflammations" EXACT []
synonym: "Pneumonias" EXACT []
synonym: "Pneumonitides" EXACT []
synonym: "Pneumonitis" EXACT []
synonym: "Pulmonary Inflammation" EXACT []
synonym: "pulmonary inflammations" EXACT []
xref: EFO:0003106
xref: EFO:1001991
xref: MESH:D011014
xref: NCI:C3333
is_a: DOID:850 ! lung disease
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:5520
name: head and neck squamous cell carcinoma
alt_id: MIM:275355
def: "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck. (DO)" [http://en.wikipedia.org/wiki/Head_and_neck_cancer#Squamous_cell_carcinoma "DO", http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck "DO", http://www.cancer.gov/dictionary?CdrID=597171 "DO"]
synonym: "carcinoma of the head and neck" EXACT []
synonym: "HNSCC" EXACT []
synonym: "LIP AND ORAL CAVITY CARCINOMA" NARROW []
synonym: "SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC" EXACT []
synonym: "squamous cell carcinoma of the head and neck" EXACT []
synonym: "squamous cell carcinomas of head and neck" EXACT []
xref: EFO:0000181
xref: GARD:8503
xref: MESH:D000077195
xref: NCI:C34447
is_a: DOID:1542 ! head and neck carcinoma
is_a: DOID:1749 ! squamous cell carcinoma

[Term]
id: DOID:5521
name: keratinizing squamous cell carcinoma
def: "A squamous cell carcinoma that presents as single, isolated cells with bizarre cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris. (DO)" [http://books.google.com/books?id=TQju7e__pRIC&pg=PA1132&lpg=PA1132&dq#v=onepage&q&f=false "DO"]
synonym: "keratinizing epidermoid carcinoma" EXACT []
xref: EFO:0000559
xref: NCI:C4105
is_a: DOID:1749 ! squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:5522
name: basaloid squamous cell carcinoma
def: "A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19738459 "DO"]
synonym: "Basaloid carcinoma" EXACT []
xref: EFO:1001940
xref: ICDO:8083/3
xref: NCI:C54244
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:2513 ! basal cell carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:5524
name: adenoid squamous cell carcinoma
def: "A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis. (DO)" [http://en.wikipedia.org/wiki/Adenoid_squamous-cell_carcinoma "DO"]
synonym: "acantholytic squamous cell carcinoma" EXACT []
synonym: "adenoacanthoma" EXACT []
synonym: "adenocarcinoma with squamous metaplasia" EXACT []
synonym: "pseudoglandular squamous carcinoma" EXACT []
xref: NCI:C4106
xref: NCI:C4200
is_a: DOID:0050920 ! tonsil squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:5525
name: anal squamous cell carcinoma
def: "An anal carcinoma that arises near the squamocolumnar junction. (DO)" [http://en.wikipedia.org/wiki/Anal_cancer "DO"]
synonym: "epidermoid anal carcinoma" EXACT []
xref: EFO:1000081
xref: NCI:C9161
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:4908 ! anal carcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:5526
name: middle ear squamous cell carcinoma
def: "A middle ear carcinoma that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"]
synonym: "Epidermoid carcinoma of the middle ear" EXACT []
synonym: "squamous cell carcinoma of middle ear" EXACT []
xref: EFO:1000378
xref: NCI:C6086
xref: RDO:9002275
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:4893 ! middle ear carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:5527
name: ampulla of Vater squamous cell carcinoma
def: "An ampulla of Vater carcinoma that derives_from epithelial squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"]
xref: NCI:C27417
is_a: DOID:4932 ! ampulla of Vater carcinoma
is_a: DOID:5537 ! squamous cell bile duct carcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5528
name: rectum squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the rectum. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25956212 "DO"]
synonym: "squamous carcinoma of rectum" EXACT []
synonym: "squamous cell carcinoma of the rectum" EXACT []
xref: NCI:C5554
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:1993 ! rectum cancer
is_a: DOID:9002533 ! Rectum Carcinoma

[Term]
id: DOID:5529
name: lacrimal gland squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the lacrimal gland. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12724709 "DO"]
synonym: "epidermoid carcinoma of the lacrimal gland" EXACT []
synonym: "squamous cell carcinoma of lacrimal gland" EXACT []
xref: NCI:C6092
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:293 ! lacrimal gland carcinoma
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:5530
name: thymus squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the thymus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23235139 "DO"]
synonym: "epidermoid thymic carcinoma" EXACT []
synonym: "Thymic Squamous Cell Carcinoma" EXACT []
xref: EFO:1000579
xref: NCI:C6455
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:3284 ! thymic carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:5531
name: ovarian squamous cell carcinoma
alt_id: DOID:5532
def: "An ovarian carcinoma that derives_from squamous epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25511544 "DO"]
synonym: "ovarian squamous cell neoplasm" EXACT []
synonym: "squamous cell carcinoma of ovary" EXACT []
xref: EFO:1000432
xref: NCI:C40092
xref: NCI:C40093
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:4001 ! ovarian carcinoma

[Term]
id: DOID:5533
name: endometrial squamous cell carcinoma
def: "An endometrial carcinoma that has_material_basis_in squamous cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24615329 "DO"]
synonym: "squamous cell carcinoma of endometrium" EXACT []
xref: EFO:1000240
xref: NCI:C8719
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:2871 ! endometrial carcinoma
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:5534
name: renal pelvis squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the renal pelvis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24493112 "DO"]
synonym: "epidermoid carcinoma of the kidney pelvis" EXACT []
synonym: "squamous cell carcinoma of renal pelvis" RELATED []
xref: NCI:C7732
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:4919 ! renal pelvis carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:5535
name: gallbladder squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the gallbladder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26236536 "DO"]
synonym: "Epidermoid gallbladder carcinoma" EXACT [NCI2004_11_17:C9170]
synonym: "squamous cell carcinoma of the gallbladder" RELATED []
xref: EFO:1000267
xref: NCI:C9170
xref: RDO:9002387
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:4948 ! gallbladder carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:5536
name: sarcomatoid squamous cell skin carcinoma
synonym: "sarcomatoid squamous cell carcinoma" EXACT []
synonym: "spindle cell (sarcomatoid) squamous cell carcinoma" EXACT []
synonym: "spindle cell (sarcomatoid) squamous cell skin carcinoma" EXACT []
synonym: "spindle cell squamous carcinoma of skin" EXACT []
synonym: "spindle cell squamous cell carcinoma" EXACT []
xref: NCI:C27084
xref: NCI:C4666
is_a: DOID:3151 ! skin squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:5537
name: squamous cell bile duct carcinoma
def: "A squamous cell carcinoma that is located_in the bile duct. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15767732 "DO"]
xref: EFO:1000248
xref: NCI:C5777
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:4897 ! bile duct carcinoma
is_a: DOID:4947 ! cholangiocarcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:5538
name: external ear squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the external ear. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2459330/ "DO"]
synonym: "Epidermoid carcinoma of the External ear" EXACT []
synonym: "squamous cell carcinoma of external ear" EXACT []
xref: NCI:C6083
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:4288 ! external ear carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:5539
name: ureter squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the ureter. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17574059 "DO"]
synonym: "ureteral epidermoid carcinoma" EXACT []
xref: NCI:C6154
xref: RDO:9002390
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:4939 ! ureter carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:5540
name: fallopian tube squamous cell carcinoma
def: "A fallopian tube carcinoma that derives_from squamous epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22707217 "DO"]
synonym: "squamous cell carcinoma of the fallopian tube" EXACT []
xref: NCI:C6282
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:1963 ! fallopian tube carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:5545
name: anal neuroendocrine tumor
synonym: "anal neuroendocrine tumour" EXACT []
synonym: "neuroendocrine tumor of anus" EXACT []
synonym: "neuroendocrine tumour of anus" EXACT []
xref: NCI:C5603
xref: RDO:9004505
is_a: DOID:4119 ! intestinal neuroendocrine benign tumor
is_a: DOID:4551 ! anus benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5546
name: femoral cancer
def: "A bone cancer that is located_in the femur. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35402113/ "DO"]
synonym: "cancer of the femur" EXACT []
xref: EFO:0007270
is_a: DOID:184 ! bone cancer
is_a: DOID:9000805 ! Femoral Neoplasms

[Term]
id: DOID:5547
name: pulmonary artery choriocarcinoma
def: "A choriocarcinoma that is located_in the pulmonary artery. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11834687 "DO"]
synonym: "syncytioma of pulmonary artery" EXACT []
xref: NCI:C5381
is_a: DOID:1324 ! lung cancer
is_a: DOID:175 ! vascular cancer
is_a: DOID:3594 ! choriocarcinoma
is_a: DOID:60001 ! pulmonary artery disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5550
name: choriocarcinoma of ovary
def: "A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129104/ "DO"]
synonym: "ovarian choriocarcinoma" EXACT []
xref: EFO:1000413
xref: NCI:C4515
is_a: DOID:2155 ! malignant ovarian germ cell neoplasm
is_a: DOID:3594 ! choriocarcinoma

[Term]
id: DOID:5551
name: choriocarcinoma of the testis
def: "A choriocarcinoma that is located_in the testis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24949806 "DO"]
synonym: "testicular choriocarcinoma" EXACT []
xref: EFO:1000564
xref: NCI:C7733
is_a: DOID:3594 ! choriocarcinoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5553
name: pineal region choriocarcinoma
synonym: "pineal choriocarcinoma" EXACT []
xref: NCI:C6759
is_a: DOID:1660 ! malignant pineal area germ cell neoplasm

[Term]
id: DOID:5556
name: testicular malignant germ cell cancer
synonym: "malignant germ cell tumor of testis" EXACT []
xref: NCI:C9063
is_a: DOID:5557 ! testicular germ cell cancer

[Term]
id: DOID:5557
name: testicular germ cell cancer
def: "A testicular cancer that has_material_basis_in germ cells. (DO)" [http://cancergenome.nih.gov/cancersselected/TesticularGermCellCancer "DO", http://www.cancer.gov/dictionary?CdrID=445090 "DO", http://www.cancer.gov/dictionary?CdrID=695185 "DO"]
synonym: "germ cell tumor of testis" EXACT []
synonym: "testicular germ cell neoplasm" RELATED []
xref: EFO:0004281
xref: EFO:1000566
xref: NCI:C8591
xref: ORDO:3636504
is_a: DOID:2994 ! germ cell cancer
is_a: DOID:2998 ! testicular cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:5559
name: mediastinal cancer
def: "A thoracic cancer that is located_in the mediastinum. (DO)" [http://en.wikipedia.org/wiki/Mediastinal "DO"]
synonym: "cancer of mediastinum" EXACT []
synonym: "cancer of the mediastinum" EXACT []
synonym: "mediastinal cancers" EXACT []
synonym: "Mediastinal Malignant Germ Cell Tumor" NARROW []
synonym: "mediastinal tumor" EXACT []
synonym: "mediastinum cancer" EXACT []
synonym: "mediastinum cancers" EXACT []
synonym: "neoplasm of mediastinum" EXACT []
synonym: "tumour of mediastinum" EXACT []
xref: EFO:0007362
xref: EFO:1000366
xref: ICD10CM:C38.3
xref: ICD9CM:164.9
xref: NCI:C3221
xref: NCI:C3549
is_a: DOID:5093 ! thoracic cancer
is_a: DOID:9008299 ! Mediastinal Neoplasms
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5560
name: mediastinal mesenchymal tumor
synonym: "mediastinal mesenchymal tumour" EXACT []
synonym: "soft tissue tumor of mediastinum" EXACT []
synonym: "soft tissue tumour of mediastinum" EXACT []
xref: NCI:C6637
xref: RDO:9005081
is_a: DOID:5559 ! mediastinal cancer
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:5561
name: gastric teratoma
def: "A teratoma that is located_in the stomach or other gastric tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26850909 "DO"]
synonym: "teratoma of stomach" EXACT []
xref: NCI:C5259
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:10534 ! stomach cancer
is_a: DOID:3307 ! teratoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:5563
name: malignant teratoma
def: "A teratoma that is cancerous. (DO)" [https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation "DO"]
synonym: "immature teratoma" EXACT [NCI2004_11_17:C4286]
synonym: "immature teratomas" EXACT []
synonym: "malignant extragonadal teratoma" EXACT [NCI2004_11_17:C8884]
synonym: "primary malignant extragonadal teratoma" EXACT []
synonym: "Teratoma, malignant, NOS" EXACT []
synonym: "Teratoma with Malignant Transformation" EXACT []
xref: EFO:1000563
xref: NCI:C4286
xref: NCI:C60468
xref: NCI:C8884
xref: RDO:9004020
is_a: DOID:3307 ! teratoma

[Term]
id: DOID:5564
name: fallopian tube teratoma
def: "A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14127249 "DO"]
xref: NCI:C40131
xref: RDO:9004033
is_a: DOID:3307 ! teratoma
is_a: DOID:5324 ! fallopian tube germ cell cancer
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5565
name: adult teratoma
def: "A benign teratoma that is present in an adult. (DO)" [https://www.sciencedirect.com/science/article/pii/B9780702031311000353 "DO"]
xref: NCI:C9013
is_a: DOID:0080602 ! benign teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5566
name: mature teratoma
def: "A teratoma that is composed exclusively of mature tissues derived from two or three germ layers. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mature-teratoma "DO"]
xref: ICDO:9080/0
xref: NCI:C9015
is_a: DOID:3307 ! teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5567
name: ovarian germ cell teratoma
synonym: "germ cell teratoma of ovary" EXACT []
xref: EFO:0006463
xref: NCI:C8110
is_a: DOID:2156 ! ovarian germ cell cancer
is_a: DOID:5117 ! dermoid cyst of ovary

[Term]
id: DOID:5568
name: mediastinum teratoma
def: "A teratoma that is located_in the mediastinum. (DO)" [https://radiopaedia.org/articles/mediastinal-teratoma "DO", https://www.sciencedirect.com/science/article/pii/S1755001709000323 "DO"]
synonym: "teratoma of mediastinum" EXACT []
xref: NCI:C6438
is_a: DOID:3307 ! teratoma
is_a: DOID:5559 ! mediastinal cancer
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5569
name: malignant syringoma
synonym: "microcystic adnexal carcinoma" EXACT []
synonym: "microcystic adnexal carcinoma of skin" EXACT []
synonym: "syringomatous carcinoma" EXACT []
is_a: DOID:4921 ! eccrine sweat gland cancer

[Term]
id: DOID:557
name: kidney disease
alt_id: DOID:11705
alt_id: MIM:602914
alt_id: OMIA:000710
def: "A urinary system disease that is located_in the kidney. (DO)" [http://www.nlm.nih.gov/medlineplus/kidneydiseases.html "DO"]
synonym: "impaired renal function disease" EXACT []
synonym: "kidney diseases" EXACT []
synonym: "kidney injury" NARROW []
synonym: "nephropathy" EXACT []
synonym: "renal disease" EXACT []
synonym: "RENAL DYSPLASIA" NARROW []
xref: EFO:0003086
xref: EFO:0009833
xref: ICD10CM:N08
xref: MESH:D007674
xref: NCI:C3149
xref: NCI:C34843
is_a: DOID:18 ! urinary system disease

[Term]
id: DOID:5570
name: malignant acrospiroma
synonym: "anaplastic syringoma" EXACT []
synonym: "eccrine ductal carcinoma" EXACT []
synonym: "eccrine ductal carcinoma of skin" EXACT []
xref: NCI:C43345
is_a: DOID:2095 ! sweat gland cancer
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5572
name: Beckwith-Wiedemann syndrome
alt_id: MIM:130650
def: "A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. (DO)" [http://en.wikipedia.org/wiki/Beckwith%E2%80%93Wiedemann_syndrome "DO", http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/52/viewAbstract "DO"]
synonym: "AUTOSOMAL DOMINANT KCNQ1-RELATED DISEASE" EXACT []
synonym: "BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION" NARROW []
synonym: "BWCR" NARROW []
synonym: "BWS" EXACT []
synonym: "EMG Syndrome" EXACT []
synonym: "EMG Syndromes" EXACT []
synonym: "Exomphalos-Macroglossia-Gigantism Syndrome" EXACT []
synonym: "KCNQ1-RELATED CONDITION" EXACT []
synonym: "WBS" EXACT []
synonym: "Wiedemann-Beckwith syndrome (WBS)" EXACT []
synonym: "Wiedemann Beckwith syndromes (WBS)" EXACT []
xref: GARD:3343
xref: MESH:D001506
xref: MONDO:0007534
xref: NCI:C34415
xref: ORDO:116
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:5574
name: vipoma
def: "A tumor that secretes VASOACTIVE INTESTINAL PEPTIDE, a neuropeptide that causes VASODILATION; relaxation of smooth muscles; watery DIARRHEA; HYPOKALEMIA; and HYPOCHLORHYDRIA. Vipomas, derived from the pancreatic ISLET CELLS, generally are malignant and can secrete other hormones. In most cases, Vipomas are located in the PANCREAS but can be found in extrapancreatic sites." [MESH:D003969]
synonym: "Diarrheogenic Islet Cell Tumor" EXACT []
synonym: "Diarrheogenic Tumor" EXACT []
synonym: "diarrheogenic tumors" EXACT []
synonym: "malignant vasoactive intestinal peptide-secreting tumor" EXACT []
synonym: "malignant vipoma" EXACT []
synonym: "Vasoactive Intestinal Peptide (VIP) Tumor" EXACT []
synonym: "Vasoactive Intestinal Peptide Producing Tumor" EXACT []
synonym: "vasoactive intestinal peptide-secreting tumor" EXACT []
synonym: "Vipomas" EXACT []
synonym: "Vipoma Syndrome" EXACT []
synonym: "VIP-secreting tumor" EXACT []
synonym: "VIP Secreting Tumor (VIPoma)" EXACT []
synonym: "VIP-Secreting Tumors (VIPoma)" EXACT []
synonym: "Watery Diarrhea, Hypokalemia, and Achlorhydria Syndrome" EXACT []
synonym: "Watery Diarrhea Syndrome" EXACT []
synonym: "Watery Diarrhea with Hypokalemic Alkalosis" EXACT []
synonym: "WDHA" EXACT []
synonym: "WDHA syndrome" EXACT []
synonym: "WDHA syndromes" EXACT []
synonym: "WDHH" EXACT []
xref: EFO:1000622
xref: GARD:5493
xref: ICDO:8155/3
xref: MESH:D003969
xref: NCI:C26749
is_a: DOID:1798 ! pancreatic endocrine carcinoma
is_a: DOID:1800 ! neuroendocrine carcinoma

[Term]
id: DOID:5576
name: inhibited male orgasm
synonym: "male Orgasmic disorder" EXACT [NCI2004_11_17:C34959]
xref: ICD10CM:F52.32
xref: NCI:C34959
xref: RDO:9004659
is_a: DOID:48 ! male reproductive system disease
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:5577
name: gastrinoma
def: "A neuroendocrine tumor that results_in an overproduction of gastric acid. (DO)" [http://www.cancer.gov/dictionary?CdrID=44239 "DO"]
synonym: "gastrin cell tumour" EXACT []
synonym: "Gastrinomas" EXACT []
synonym: "Gastrin Producing Tumor" EXACT []
synonym: "Gastrin-Producing Tumors" EXACT []
synonym: "gastrin secreting tumor" EXACT []
synonym: "malignant gastrinoma" EXACT []
synonym: "Ulcerogenic Islet Cell Tumor" EXACT []
xref: ICDO:8153/3
xref: MESH:D015408
xref: NCI:C3050
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:1798 ! pancreatic endocrine carcinoma

[Term]
id: DOID:5579
name: gastric gastrinoma
synonym: "gastric G-cell gastrin producing tumor" EXACT []
xref: NCI:C27444
is_a: DOID:10534 ! stomach cancer
is_a: DOID:5577 ! gastrinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:5580
name: pancreatic gastrinoma
synonym: "pancreatic G-cell tumor" EXACT [NCI2004_11_17:C9069]
xref: EFO:1000440
xref: NCI:C9069
xref: NCI:C95596
xref: RDO:9004591
is_a: DOID:1799 ! islet cell tumor
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5583
name: lung giant cell carcinoma
def: "A lung carcinoma that is located_in large undifferentiated cells. (DO)" [http://medical-dictionary.thefreedictionary.com/giant+cell+carcinoma "DO"]
xref: EFO:1000332
xref: NCI:C3779
xref: NCI:C4452
is_a: DOID:4556 ! lung large cell carcinoma
is_a: DOID:9000770 ! Giant Cell Carcinoma

[Term]
id: DOID:5585
name: Ferguson-Smith tumor
alt_id: DOID:9003571
alt_id: MIM:132800
alt_id: RDO:0001611
synonym: "Epithelioma, self-healing squamous, 1" EXACT []
synonym: "ESS1" EXACT []
synonym: "Ferguson-Smith Type epithelioma" EXACT []
synonym: "Keratoacanthoma Familial" EXACT []
synonym: "MSSE" EXACT []
synonym: "multiple self-healing epithelioma of Ferguson-Smith" EXACT []
synonym: "multiple self-healing squamous epithelioma" EXACT []
synonym: "multiple self-healing squamous epithelioma, susceptibility to" EXACT []
xref: MESH:C536150
xref: NCI:C4461
is_a: DOID:3149 ! keratoacanthoma

[Term]
id: DOID:5587
name: Volkmann contracture
def: "A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26815829 "DO"]
synonym: "Ischemic Contracture" EXACT []
synonym: "ischemic contractures" EXACT []
synonym: "Volkmann's Ischemic Contracture" EXACT []
synonym: "Volkmann Contractures" EXACT []
synonym: "Volkmann Ischemic Contracture" EXACT []
synonym: "Volkmanns ischemic contracture" EXACT []
xref: ICD10CM:T79.6
xref: ICD9CM:958.6
xref: MESH:D054061
xref: NCI:C35130
is_a: DOID:65 ! connective tissue disease
is_a: DOID:682 ! compartment syndrome
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:5588
name: lung papillary adenocarcinoma
def: "A papillary adenocarcinoma that is located_in the lung. (DO)" [https://radiopaedia.org/articles/mediastinal-teratoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/26766978 "DO"]
synonym: "papillary adenocarcinoma of the lung" EXACT []
xref: EFO:1000046
xref: NCI:C5650
is_a: DOID:3112 ! papillary adenocarcinoma
is_a: DOID:3910 ! lung adenocarcinoma
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:559
name: acute pyelonephritis
xref: ICD10CM:N10
xref: ICD9CM:590.1
xref: NCI:C123215
is_a: DOID:11400 ! pyelonephritis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5590
name: aggressive digital papillary adenocarcinoma
def: "A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386778/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/28477887 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28495496 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28832985 "DO"]
xref: RDO:9004996
is_a: DOID:3112 ! papillary adenocarcinoma
is_a: DOID:5667 ! sweat gland carcinoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:5591
name: eccrine papillary adenocarcinoma
synonym: "Digital papillary adenocarcinoma" EXACT []
xref: RDO:9003022
is_a: DOID:3112 ! papillary adenocarcinoma
is_a: DOID:4920 ! eccrine adenocarcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5592
name: breast papillary carcinoma
def: "A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244819/ "DO"]
synonym: "breast solid papillary carcinoma" EXACT []
synonym: "papillary carcinoma of breast" EXACT []
synonym: "Papillary carcinoma of the breast" EXACT []
synonym: "solid papillary carcinoma of the breast" EXACT []
xref: NCI:C6870
is_a: DOID:3113 ! papillary carcinoma
is_a: DOID:3459 ! breast carcinoma
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:5593
name: gastric papillary adenocarcinoma
def: "A papillary adenocarcinoma that is located_in the stomach. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11984707 "DO"]
synonym: "Papillary adenocarcinoma of stomach" EXACT []
xref: EFO:1000276
xref: NCI:C5472
xref: RDO:9002471
is_a: DOID:3112 ! papillary adenocarcinoma
is_a: DOID:3717 ! gastric adenocarcinoma
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:5595
name: papillary thymic adenocarcinoma
synonym: "papillary carcinoma of the thymus" EXACT []
xref: NCI:C27937
is_a: DOID:3112 ! papillary adenocarcinoma
is_a: DOID:4923 ! thymus adenocarcinoma
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:5597
name: fallopian tube papillary adenocarcinoma
def: "A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3425272/ "DO"]
synonym: "papillary adenocarcinoma of the fallopian tube" EXACT []
xref: NCI:C6267
is_a: DOID:3112 ! papillary adenocarcinoma
is_a: DOID:3706 ! fallopian tube adenocarcinoma
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:5598
name: fallopian tube serous adenocarcinoma
def: "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25163242 "DO"]
xref: EFO:1000253
xref: NCI:C40099
is_a: DOID:3114 ! serous cystadenocarcinoma
is_a: DOID:3706 ! fallopian tube adenocarcinoma
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:560
name: jaw-winking syndrome
alt_id: MIM:154600
def: "A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16411218/ "DO"]
synonym: "abnormal innervation syndrome of eyelid" EXACT []
synonym: "Familial Marcus Gunn phenomenon" EXACT []
synonym: "jaw-blinking" EXACT []
synonym: "Jaw-winking" EXACT []
synonym: "Marcus Gunn Phenomenon" EXACT []
synonym: "Marcus-Gunn syndrome" EXACT []
synonym: "maxillopalpebral synkinesis" EXACT []
synonym: "pterygoid-levator synkinesis" EXACT []
xref: ICD10CM:Q07.8
xref: ICD9CM:374.43
xref: MESH:C535908
is_a: DOID:0060260 ! ptosis
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:5656 ! cranial nerve disease
is_a: DOID:9000066 ! Jaw Abnormalities
is_a: DOID:9005219 ! Abnormal Reflexes

[Term]
id: DOID:5602
name: T-cell adult acute lymphocytic leukemia
def: "An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9142 "DO"]
synonym: "acute adult T-cell leukemia-lymphoma" EXACT []
synonym: "adult Precursor T Lymphoblastic Leukemia" EXACT []
xref: EFO:1001936
xref: NCI:C9142
is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia
is_a: DOID:5604 ! adult acute lymphocytic leukemia
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:5603
name: T-cell acute lymphoblastic leukemia
alt_id: DOID:5599
alt_id: DOID:715
alt_id: MIM:151440
def: "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/expand/T "DO"]
synonym: "acute T-cell leukemia" EXACT []
synonym: "acute T-cell leukemias" EXACT []
synonym: "acute T-lymphocytic leukemia" EXACT []
synonym: "acute T-lymphocytic leukemias" EXACT []
synonym: "Early T cell progenitor acute lymphoblastic leukemia" EXACT []
synonym: "precursor T-cell lymphoblastic leukemia" EXACT []
synonym: "Precursor T-Cell Lymphoblastic Leukemia-Lymphoma" EXACT []
synonym: "Precursor T Cell Lymphoblastic Lymphoma" EXACT []
synonym: "precursor T lymphoblastic leukemia" EXACT []
synonym: "precursor T-lymphoblastic lymphoma/leukemia" EXACT []
synonym: "T acute lymphoblastic leukemia" EXACT []
synonym: "T-ALL" EXACT []
synonym: "T-cell acute lymphoblastic leukaemia" EXACT []
synonym: "T-cell acute lymphoblastic leukemia, susceptibility to" RELATED []
synonym: "T-cell acute lymphocytic leukaemia" EXACT []
synonym: "T-cell acute lymphocytic leukemia" EXACT []
synonym: "T-cell leukemia" EXACT []
synonym: "T-cell leukemias" EXACT []
synonym: "T-cell lymphoblastic leukemia/lymphoma" EXACT []
synonym: "T-cell lymphocytic leukemia" EXACT []
synonym: "T-cell lymphocytic leukemias" EXACT []
synonym: "T lymphocytic leukemia" EXACT []
synonym: "T lymphocytic leukemias" EXACT []
xref: EFO:0000201
xref: EFO:0000209
xref: EFO:0005592
xref: EFO:1001830
xref: ICDO:9729/3
xref: ICDO:9837/3
xref: MESH:D015458
xref: MESH:D054218
xref: MONDO:0003540
xref: NCI:C21925
xref: NCI:C3183
xref: NCI:C3184
xref: NCI:C8694
is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma
is_a: DOID:9952 ! acute lymphoblastic leukemia
created_by: rgd
creation_date: 2017-10-10T00:00:00Z

[Term]
id: DOID:5604
name: adult acute lymphocytic leukemia
def: "An acute lymphocytic leukemia occurring during adulthood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4967 "DO"]
synonym: "adult acute lymphoid leukemia" EXACT []
synonym: "adult ALL" EXACT []
xref: NCI:C4967
is_a: DOID:9952 ! acute lymphoblastic leukemia
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:5605
name: breast medullary carcinoma
def: "A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology. (DO)" [http://surgpathcriteria.stanford.edu/breast/medcabr/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/24065502 "DO"]
synonym: "medullary breast carcinoma with lymphoid stroma" EXACT []
synonym: "medullary carcinoma of breast" EXACT []
xref: EFO:0000580
xref: NCI:C9119
is_a: DOID:3458 ! breast adenocarcinoma
is_a: DOID:9006195 ! Medullary Carcinomas
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5608
name: dental pulp calcification
alt_id: RDO:0004085
def: "CALCINOSIS of the DENTAL PULP or ROOT CANAL." [MESH:D003784]
synonym: "dental pulp calcifications" EXACT []
synonym: "Dental Pulp Stone" EXACT []
synonym: "Dental Pulp Stones" EXACT []
synonym: "Denticle" EXACT []
synonym: "Denticles" EXACT []
synonym: "Dentin Anomalous Dysplasia" EXACT []
synonym: "Dentin Anomalous Dysplasias" EXACT []
synonym: "pulpal calcifications" EXACT [SNOMEDCT_2005_07_31:57602001]
synonym: "pulpal dysplasia" EXACT []
synonym: "pulpal dysplasias" EXACT []
synonym: "pulp calcification" EXACT [CSP2005:0834-4423]
synonym: "pulp calcifications" EXACT [MTHICD9_2006:522.2]
synonym: "pulp stone" EXACT []
synonym: "pulp stones" EXACT []
xref: MESH:D003784
is_a: DOID:5330 ! dental pulp disease

[Term]
id: DOID:561
name: trigeminal nerve disease
def: "Diseases of the trigeminal nerve or its nuclei, which are located in the pons and medulla. The nerve is composed of three divisions: ophthalmic, maxillary, and mandibular, which provide sensory innervation to structures of the face, sinuses, and portions of the cranial vault. The mandibular nerve also innervates muscles of mastication. Clinical features include loss of facial and intra-oral sensation and weakness of jaw closure. Common conditions affecting the nerve include brain stem ischemia, INFRATENTORIAL NEOPLASMS, and TRIGEMINAL NEURALGIA." [MESH:D020433]
synonym: "Cranial Nerve V Diseases" EXACT []
synonym: "Fifth Cranial Nerve Diseases" EXACT []
synonym: "Idiopathic Trigeminal Neuropathies" EXACT []
synonym: "Idiopathic Trigeminal Neuropathy" EXACT []
synonym: "Raeder Paratrigeminal Syndrome" EXACT []
synonym: "trigeminal nerve diseases" EXACT []
synonym: "Trigeminal Nerve Disorder" EXACT []
synonym: "Trigeminal Nerve Disorders" EXACT []
synonym: "Trigeminal Neuropathies" EXACT []
synonym: "Trigeminal Neuropathy" EXACT []
xref: EFO:0009569
xref: ICD9CM:350.8
xref: MESH:D020433
xref: RDO:0006751
is_a: DOID:13865 ! facial neuralgia
is_a: DOID:5656 ! cranial nerve disease

[Term]
id: DOID:5612
name: spinal cancer
def: "A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). (DO)" [http://en.wikipedia.org/wiki/Spinal_tumor "DO"]
synonym: "intraspinal tumor" EXACT []
synonym: "malignant tumor of the spinal cord" EXACT []
synonym: "spinal cord cancer" EXACT []
synonym: "tumor of the spinal cord" EXACT []
xref: ICD10CM:C72.0
xref: ICD9CM:192.2
xref: NCI:C168693
xref: NCI:C3381
xref: NCI:C3572
is_a: DOID:3620 ! central nervous system cancer
is_a: DOID:9006391 ! Spinal Cord Neoplasms
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5614
name: eye disease
def: "An eye and adnexa disease that is located_in the eye. (DO)" [http://en.wikipedia.org/wiki/Eye_disease "DO"]
subset: RGD_JBrowse_slim
synonym: "eye diseases" EXACT []
xref: EFO:0003966
xref: ICD10CM:H44
xref: ICD9CM:379.90
xref: MESH:D005128
xref: NCI:C26767
is_a: DOID:0050155 ! sensory system disease

[Term]
id: DOID:5615
name: spinal canal intradural extramedullary neoplasm
synonym: "intradural extramedullary spinal tumors" EXACT []
xref: NCI:C5135
xref: RDO:9004690
is_a: DOID:5612 ! spinal cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:562
name: third cranial nerve disease
def: "Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior oblique, or levator palpebrae muscles, or impaired parasympathetic innervation to the pupil. With a complete oculomotor palsy, the eyelid will be paralyzed, the eye will be in an abducted and inferior position, and the pupil will be markedly dilated. Commonly associated conditions include neoplasms, CRANIOCEREBRAL TRAUMA, ischemia (especially in association with DIABETES MELLITUS), and aneurysmal compression. (From Adams et al., Principles of Neurology, 6th ed, p270)" [MESH:D015840]
synonym: "cranial nerve III diseases" EXACT []
synonym: "disorder of oculomotor nerve" EXACT []
synonym: "oculomotor nerve disease" EXACT []
synonym: "Oculomotor Nerve Disorder" EXACT []
synonym: "oculomotor nerve disorders" EXACT []
synonym: "Oculomotor Nerve Palsies" EXACT []
synonym: "Oculomotor Nerve Palsy" EXACT []
synonym: "Oculomotor Neuropathies" EXACT []
synonym: "Oculomotor Neuropathy" EXACT []
synonym: "third cranial nerve diseases" EXACT []
synonym: "third-nerve palsies" EXACT []
synonym: "third nerve palsy" EXACT []
synonym: "third nerve paralysis" EXACT []
xref: MESH:D015840
xref: NCI:C27598
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:5656 ! cranial nerve disease

[Term]
id: DOID:5621
name: histiocytic and dendritic cell cancer
def: "A sarcoma and hematologic cancer that derives_from follicular lymphoma. (DO)" [http://www.springerlink.com/content/h9wrn7p72x26q035/ "DO"]
synonym: "histiocytic and dendritic cell" EXACT []
xref: EFO:1000297
xref: NCI:C9294
is_a: DOID:2531 ! hematologic cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:5623
name: adenosquamous breast carcinoma
def: "A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma. (DO)" [https://www.nature.com/articles/modpathol201082 "DO"]
xref: NCI:C40361
xref: RDO:9001799
is_a: DOID:4680 ! breast metaplastic carcinoma
is_a: DOID:4830 ! adenosquamous carcinoma
created_by: rgd
creation_date: 2017-08-31T00:00:00Z

[Term]
id: DOID:5624
name: adenosquamous bile duct carcinoma
def: "A bile duct carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"]
xref: EFO:1000247
xref: NCI:C5778
xref: RDO:9002881
is_a: DOID:4830 ! adenosquamous carcinoma
is_a: DOID:5537 ! squamous cell bile duct carcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5625
name: esophageal adenosquamous carcinoma
def: "An esophageal carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"]
xref: NCI:C27421
xref: RDO:9002302
is_a: DOID:1107 ! esophageal carcinoma
is_a: DOID:4830 ! adenosquamous carcinoma
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:5626
name: thymus adenosquamous carcinoma
def: "A thymic carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"]
synonym: "adenosquamous carcinoma of the thymus" EXACT []
xref: NCI:C6458
is_a: DOID:4830 ! adenosquamous carcinoma
is_a: DOID:5530 ! thymus squamous cell carcinoma

[Term]
id: DOID:5627
name: adenosquamous gallbladder carcinoma
def: "A gallbladder carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"]
synonym: "adenosquamous carcinoma of gallbladder" EXACT []
synonym: "adenosquamous carcinoma of the gallbladder" EXACT []
xref: EFO:1000264
xref: NCI:C7356
is_a: DOID:4830 ! adenosquamous carcinoma
is_a: DOID:4948 ! gallbladder carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:5628
name: ampulla of Vater adenosquamous carcinoma
def: "An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"]
xref: NCI:C27418
is_a: DOID:5527 ! ampulla of Vater squamous cell carcinoma
is_a: DOID:5624 ! adenosquamous bile duct carcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5629
name: adenosquamous colon carcinoma
def: "A colon carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"]
synonym: "adenosquamous carcinoma of colon" EXACT []
synonym: "colonic adenosquamous carcinoma" EXACT []
synonym: "Colorectal Adenosquamous Carcinoma" NARROW []
xref: EFO:1000190
xref: NCI:C5491
is_a: DOID:1520 ! colon carcinoma
is_a: DOID:4830 ! adenosquamous carcinoma
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:5630
name: Bartholin's gland adenosquamous carcinoma
def: "A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"]
synonym: "Bartholin gland adenosquamous carcinoma" EXACT []
xref: NCI:C40296
is_a: DOID:4830 ! adenosquamous carcinoma
is_a: DOID:6961 ! Bartholin's gland squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-15T00:00:00Z

[Term]
id: DOID:5631
name: endometrial adenosquamous carcinoma
def: "An endometrial carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"]
synonym: "adenosquamous carcinoma of endometrium" EXACT []
xref: EFO:1001952
xref: NCI:C114656
is_a: DOID:4830 ! adenosquamous carcinoma
is_a: DOID:5533 ! endometrial squamous cell carcinoma

[Term]
id: DOID:5632
name: optic nerve sheath meningioma
synonym: "meningioma of optic nerve sheath" EXACT [SNOMEDCT_2005_07_31:254978007]
xref: NCI:C4538
is_a: DOID:3419 ! optic nerve neoplasm

[Term]
id: DOID:5634
name: adenosquamous prostate carcinoma
def: "A prostate carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"]
synonym: "adenosquamous carcinoma of prostate" EXACT []
synonym: "adenosquamous carcinoma of the prostate" EXACT []
xref: NCI:C5538
is_a: DOID:10286 ! prostate carcinoma
is_a: DOID:4830 ! adenosquamous carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:5635
name: gastric adenosquamous carcinoma
synonym: "adenosquamous carcinoma of stomach" EXACT []
xref: EFO:1000029
xref: NCI:C5474
is_a: DOID:4830 ! adenosquamous carcinoma
is_a: DOID:5516 ! gastric squamous cell carcinoma

[Term]
id: DOID:5636
name: cervical adenosquamous carcinoma
def: "A cervical carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"]
synonym: "adenosquamous carcinoma of cervix" EXACT []
synonym: "adenosquamous cell carcinoma of the cervix uteri" EXACT []
xref: EFO:1000162
xref: NCI:C4519
is_a: DOID:3702 ! cervical adenocarcinoma
is_a: DOID:4830 ! adenosquamous carcinoma

[Term]
id: DOID:5637
name: pancreatic adenosquamous carcinoma
def: "A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5721 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24859531 "DO"]
synonym: "Adenosquamous carcinoma of pancreas" EXACT [NCI2004_11_17:C5721]
synonym: "adenosquamous carcinoma of the pancreas" RELATED []
xref: EFO:0006732
xref: NCI:C5721
xref: RDO:9002825
is_a: DOID:3498 ! pancreatic ductal adenocarcinoma
is_a: DOID:4830 ! adenosquamous carcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5638
name: malignant giant cell tumor of soft parts
synonym: "malignant giant cell neoplasm of soft parts" EXACT []
xref: ICDO:9251/3
xref: NCI:C8380
is_a: DOID:2705 ! malignant giant cell tumor
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5639
name: rete testis neoplasm
xref: NCI:C39955
is_a: DOID:3856 ! male reproductive organ cancer
is_a: DOID:9004207 ! Testicular Neoplasms
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:5641
name: diffuse pulmonary fibrosis
def: "A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. (DO)" [https://www.sciencedirect.com/science/article/pii/S0954611106004331 "DO"]
synonym: "DIFFUSE INTERSTITIAL PULMONARY FIBROSIS" EXACT []
xref: NCI:C27216
is_a: DOID:3770 ! pulmonary fibrosis
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:5642
name: localized pulmonary fibrosis
def: "A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. (DO)" [https://www.sciencedirect.com/science/article/pii/S0954611106004331 "DO"]
xref: NCI:C27103
is_a: DOID:3770 ! pulmonary fibrosis
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:5643
name: urethral villous adenoma
xref: NCI:C39872
is_a: DOID:657 ! adenoma
is_a: DOID:730 ! urethral benign neoplasm
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:5644
name: tricuspid valve prolapse
def: "Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus." [MESH:D014263]
synonym: "Tricuspid Valve Prolapses" EXACT []
xref: EFO:1001218
xref: MESH:D014263
is_a: DOID:0050826 ! tricuspid valve disease
is_a: DOID:9004382 ! Heart Valve Prolapse

[Term]
id: DOID:5648
name: choroid plexus carcinoma
def: "A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO", http://en.wikipedia.org/wiki/Choroid_plexus_carcinoma "DO", http://www.cancer.gov/dictionary?CdrID=45963 "DO"]
synonym: "cancer of choroid plexus" EXACT []
synonym: "malignant neoplasm of choroid plexus" EXACT []
synonym: "malignant neoplasm of the choroid plexus" EXACT []
synonym: "malignant tumor of choroid plexus" RELATED []
xref: GARD:8238
xref: ICDO:9390/3
xref: MESH:C562943
xref: NCI:C4533
xref: NCI:C4715
is_a: DOID:305 ! carcinoma
is_a: DOID:3540 ! choroid plexus cancer
is_a: DOID:9000080 ! Choroid Plexus Neoplasms

[Term]
id: DOID:565
name: bilateral hypoactive labyrinth
synonym: "hypoactive bilateral labyrinthine dysfunction" EXACT []
xref: ICD9CM:386.54
is_a: DOID:566 ! labyrinthine dysfunction
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:5655
name: chiasmal syndrome
def: "An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve. (DO)" [https://en.wikipedia.org/wiki/Chiasmal_syndrome "DO"]
synonym: "chiasma syndrome" EXACT []
synonym: "disorder of optic chiasm" EXACT []
xref: ICD10CM:H47.4
xref: ICD9CM:377.5
xref: MONDO:0003568
is_a: DOID:1891 ! optic nerve disease
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5656
name: cranial nerve disease
def: "A neuropathy that is located_in one of the twelve cranial nerves. (DO)" [http://en.wikipedia.org/wiki/Cranial_nerve_disease "DO", http://www.ncbi.nlm.nih.gov/mesh/68003389 "DO"]
synonym: "cranial nerve diseases" EXACT []
synonym: "Cranial Nerve Disorder" EXACT []
synonym: "cranial nerve disorders" EXACT []
synonym: "Cranial Neuropathies" EXACT []
synonym: "Cranial Neuropathy" EXACT []
synonym: "disorder of cranial nerve" EXACT []
synonym: "Multiple Cranial Neuropathies" EXACT []
synonym: "multiple cranial neuropathy" EXACT []
synonym: "nervus cranialis disorder" EXACT []
synonym: "nervus cranialis disorders" EXACT []
xref: ICD10CM:G52.9
xref: ICD9CM:352.9
xref: MESH:D003389
xref: NCI:C26733
is_a: DOID:870 ! neuropathy

[Term]
id: DOID:5658
name: lipid-rich carcinoma
def: "A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. (DO)" [http://www.pathologyoutlines.com/topic/breastmalignantlipidrich.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25789031 "DO"]
xref: ICDO:8314/3
xref: NCI:C4152
is_a: DOID:3459 ! breast carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:566
name: labyrinthine dysfunction
xref: ICD10CM:H83.2
xref: ICD9CM:386.5
is_a: DOID:2952 ! inner ear disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:5660
name: lymphoepithelioma-like carcinoma
def: "A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588446/ "DO"]
synonym: "lymphoepithelial carcinoma" EXACT []
synonym: "nasopharyngeal type undifferentiated carcinoma" EXACT []
xref: NCI:C4107
is_a: DOID:305 ! carcinoma
is_a: DOID:9261 ! nasopharynx carcinoma
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:5662
name: pleomorphic carcinoma
def: "A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35361152/ "DO"]
xref: ICDO:8022/3
xref: NCI:C4094
is_a: DOID:4015 ! sarcomatoid carcinoma
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:5665
name: external ear cancer
def: "An ear cancer that is located_in the external ear. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C4652&key=943007722&b=1&n=null "DO"]
synonym: "malignant neoplasm of the external ear" EXACT []
synonym: "malignant tumor of external ear" EXACT []
xref: NCI:C4653
is_a: DOID:379 ! external ear disease
is_a: DOID:5101 ! ear cancer
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:5667
name: sweat gland carcinoma
synonym: "carcinoma of the sweat gland" EXACT []
xref: EFO:0005591
xref: NCI:C6938
is_a: DOID:2095 ! sweat gland cancer
is_a: DOID:3451 ! skin carcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5670
name: comedo carcinoma
def: "A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells. (DO)" [http://www.cancer.gov/dictionary/?CdrID=44330 "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4188 "DO"]
synonym: "comedocarcinoma" EXACT []
xref: NCI:C4188
is_a: DOID:0060074 ! ductal carcinoma in situ

[Term]
id: DOID:5672
name: large intestine cancer
def: "An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. (DO)" [http://en.wikipedia.org/wiki/Large_intestine "DO"]
is_a: DOID:10155 ! intestinal cancer
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:5675
name: cribriform carcinoma
def: "A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells. (DO)" [http://surgpathcriteria.stanford.edu/breast/cribcabr/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/24938660 "DO"]
synonym: "ductal carcinoma, cribriform type" EXACT []
xref: EFO:1000210
xref: ICDO:8201/3
xref: NCI:C3680
is_a: DOID:3459 ! breast carcinoma
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:5677
name: malignant extragonadal nonseminomatous germ cell tumor
def: "An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen. (DO)" [http://en.wikipedia.org/wiki/Germ_cell_tumor#Nongerminomatous "DO", http://rarediseases.info.nih.gov/gard/10165/nonseminomatous-germ-cell-tumor/resources/1 "DO"]
synonym: "primary malignant extragonadal nonseminoma" EXACT []
xref: NCI:C8885
is_a: DOID:1319 ! brain cancer
is_a: DOID:4717 ! extragonadal germ cell cancer
is_a: DOID:5559 ! mediastinal cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5678
name: nerve fibre bundle defect
synonym: "retinal nerve fiber bundle defects" EXACT []
synonym: "retinal nerve fiber bundle deficiency" EXACT []
xref: ICD9CM:362.85
is_a: DOID:1393 ! visual pathway disease
is_a: DOID:5679 ! retinal disease
is_a: DOID:9000343 ! Vision Disorders
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5679
name: retinal disease
def: "An eye disease that is located_in the retina. (DO)" [http://en.wikipedia.org/wiki/Retina#Diseases_and_disorders "DO"]
synonym: "retinal diseases" EXACT []
xref: EFO:0003839
xref: ICD10CM:H35.9
xref: ICD9CM:362.9
xref: MESH:D012164
xref: NCI:C26875
xref: NCI:C62601
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:5680
name: embryonal testis carcinoma
def: "An embryonal carcinoma that is located_in the testis. (DO)" [http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma "DO"]
synonym: "embryonal carcinoma of testis" EXACT []
synonym: "embryonal carcinoma of the testis" EXACT []
synonym: "testicular embryonal carcinoma" EXACT []
xref: EFO:1000565
xref: NCI:C6341
is_a: DOID:2998 ! testicular cancer
is_a: DOID:3308 ! embryonal carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5681
name: ovarian embryonal carcinoma
def: "An embryonal carcinoma that is located_in the ovary. (DO)" [http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma "DO"]
synonym: "embryonal carcinoma of ovary" EXACT []
synonym: "embryonal carcinoma of the ovary" EXACT []
xref: EFO:1000415
xref: NCI:C8108
is_a: DOID:2394 ! ovarian cancer
is_a: DOID:3308 ! embryonal carcinoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5683
name: hereditary breast ovarian cancer syndrome
alt_id: MIM:604370
alt_id: MIM:612555
alt_id: MIM:613399
alt_id: MIM:614291
alt_id: MIM:620442
def: "A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families. (DO)" [http://en.wikipedia.org/wiki/Hereditary_breast%E2%80%93ovarian_cancer_syndrome "DO", http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1 "DO", https://www.jax.org/education-and-learning/clinical-and-continuing-education/cancer-resources/hereditary-breast-and-ovarian-cancer-syndrome-factsheet "DO", https://www.ncbi.nlm.nih.gov/books/NBK1247/ "DO"]
synonym: "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer" EXACT []
synonym: "breast and/or ovarian cancer" EXACT []
synonym: "breast and ovarian cancer susceptibility" RELATED []
synonym: "Breast and Ovarian Cancer syndrome" EXACT []
synonym: "BREAST CANCER, SUSCEPTIBILITY TO, IN BRCA1 AND BRCA2 CARRIERS" RELATED []
synonym: "BROVCA1" EXACT []
synonym: "BROVCA2" EXACT []
synonym: "BROVCA3" EXACT []
synonym: "BROVCA4" EXACT []
synonym: "BROVCA5" EXACT []
synonym: "DELETERIOUS RAD51D GENE MUTATION" RELATED []
synonym: "familial breast cancer, susceptibility to, 1" RELATED []
synonym: "familial breast cancer, susceptibility to, 2" RELATED []
synonym: "familial breast cancer, susceptibility to, 3" RELATED []
synonym: "familial breast-ovarian cancer, 1" EXACT []
synonym: "familial breast-ovarian cancer, 2" EXACT []
synonym: "familial breast-ovarian cancer, 4" EXACT []
synonym: "familial breast-ovarian cancer, susceptibility to, 1" RELATED []
synonym: "familial breast-ovarian cancer, susceptibility to, 2" RELATED []
synonym: "familial breast-ovarian cancer, susceptibility to, 3" RELATED []
synonym: "familial breast-ovarian cancer, susceptibility to, 4" RELATED []
synonym: "familial breast-ovarian cancer, susceptibility to, 5" RELATED []
synonym: "familial ovarian cancer, susceptibility to, 1" RELATED []
synonym: "familial ovarian cancer, susceptibility to, 2" RELATED []
synonym: "familial ovarian cancer, susceptibility to, 3" RELATED []
synonym: "GENETIC NON-ACQUIRED PREMATURE OVARIAN FAILURE" NARROW []
synonym: "HBOC syndrome" EXACT []
synonym: "HBOC syndromes" EXACT []
synonym: "hereditary breast and ovarian cancer" EXACT []
synonym: "hereditary breast and ovarian cancer syndrome" EXACT []
synonym: "RAD51C-RELATED CONDITION" BROAD []
xref: EFO:0002611
xref: MESH:D061325
xref: MIM:PS604370
xref: MONDO:0003582
xref: NCI:C8493
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1612 ! breast cancer
is_a: DOID:2394 ! ovarian cancer
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:5684
name: spondyloepimetaphyseal dysplasia, Sponastrime type
alt_id: MIM:271510
def: "A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. (DO)" [http://omim.org/entry/271510 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10797420 "DO"]
synonym: "skeletal dysplasia with extra-skeletal manifestations" EXACT []
synonym: "Sponastrime dysplasia" EXACT []
synonym: "Spondylar and nasal Alterations-Striated Metaphyses syndrome" EXACT [NCI2004_11_17:C3034]
synonym: "Spondylar and nasal alterations with striated metaphyses" EXACT []
synonym: "TONSL-RELATED CONDITION" EXACT []
xref: MESH:C535786
xref: NCI:C129031
xref: NCI:C92206
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia

[Term]
id: DOID:5688
name: Werner syndrome
alt_id: MIM:277700
def: "A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8. (DO)" [https://en.wikipedia.org/wiki/Werner_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15946710 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9288107 "DO"]
synonym: "adult premature ageing syndrome" EXACT []
synonym: "adult premature aging syndrome" EXACT []
synonym: "adult progeria" EXACT []
synonym: "Werner's syndrome" EXACT []
synonym: "Werners syndrome" EXACT []
synonym: "WRN" EXACT []
synonym: "WS" EXACT []
xref: GARD:7885
xref: MESH:D014898
xref: NCI:C3447
xref: ORDO:902
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0081332 ! progeroid syndrome
is_a: DOID:9002644 ! Premature Aging
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders

[Term]
id: DOID:5690
name: well-differentiated liposarcoma
def: "A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26645460 "DO"]
synonym: "atypical lipomatous tumor" EXACT []
xref: EFO:0000736
xref: EFO:1000099
xref: NCI:C176979
xref: ORDO:99971
is_a: DOID:3382 ! liposarcoma

[Term]
id: DOID:5691
name: visual cortex disease
synonym: "visual cortex dysfunction" EXACT []
xref: ICD10CM:H47.6
xref: ICD9CM:377.7
xref: NCI:C35275
is_a: DOID:1393 ! visual pathway disease
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5692
name: cellular myxoid liposarcoma
synonym: "Round cell liposarcoma" EXACT [SNOMEDCT_2005_07_31:404070007]
xref: EFO:0003084
xref: NCI:C4252
xref: RDO:9004286
is_a: DOID:5363 ! myxoid liposarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5693
name: adult liposarcoma
xref: NCI:C7811
xref: RDO:9004287
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5694
name: esophagus liposarcoma
synonym: "liposarcoma of esophagus" EXACT []
synonym: "liposarcoma of oesophagus" EXACT []
synonym: "oesophagus liposarcoma" EXACT []
xref: NCI:C5705
is_a: DOID:1114 ! esophagus sarcoma
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:5695
name: childhood liposarcoma
synonym: "pediatric liposarcoma" EXACT []
xref: ICD-O:M8850/3
xref: NCI:C8091
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5696
name: larynx liposarcoma
def: "A liposarcoma that is located_in the larynx. (DO)" [http://www.springerlink.com/content/k571r5t8637pg5p5/ "DO"]
synonym: "liposarcoma of larynx" EXACT []
xref: NCI:C6021
is_a: DOID:2877 ! larynx sarcoma
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5697
name: liposarcoma of the ovary
def: "An ovary sarcoma that arises from fatty tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32656967/ "DO"]
synonym: "liposarcoma of ovary" EXACT []
xref: NCI:C6419
is_a: DOID:2146 ! ovary sarcoma
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5698
name: fibroblastic liposarcoma
xref: ICDO:8857/3
xref: NCI:C6509
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5699
name: kidney liposarcoma
def: "A liposarcoma that is located_in the kidney. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15689251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30050631 "DO"]
synonym: "liposarcoma of kidney" EXACT []
synonym: "renal liposarcoma" EXACT []
xref: MONDO:0003591
xref: NCI:C6185
is_a: DOID:3382 ! liposarcoma
is_a: DOID:4242 ! kidney sarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:57
name: aortic valve insufficiency
def: "An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. (DO)" [http://en.wikipedia.org/wiki/Aortic_insufficiency "DO"]
synonym: "aortic incompetence" EXACT []
synonym: "aortic insufficiency" EXACT []
synonym: "Aortic Regurgitation" EXACT []
synonym: "Aortic Valve Incompetence" EXACT []
synonym: "aortic valve regurgitation" EXACT []
synonym: "Corrigan's disease" EXACT []
synonym: "rheumatic aortic insufficiency" EXACT []
synonym: "rheumatic aortic regurgitation" EXACT []
synonym: "rheumatic aortic valve insufficiency" EXACT []
synonym: "rheumatic aortic valve regurgitation" EXACT []
xref: EFO:0007148
xref: ICD10CM:I06.1
xref: ICD9CM:395.1
xref: MESH:D001022
xref: NCI:C50861
xref: NCI:C51223
is_a: DOID:62 ! aortic valve disease

[Term]
id: DOID:5700
name: gastric liposarcoma
synonym: "liposarcoma of the stomach" EXACT []
xref: NCI:C5488
is_a: DOID:10534 ! stomach cancer
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:5701
name: breast liposarcoma
def: "A breast sarcoma that arises from fat cells. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/liposarcoma "DO"]
synonym: "liposarcoma of the breast" EXACT []
xref: NCI:C5187
xref: RDO:9004331
is_a: DOID:3017 ! breast sarcoma
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5702
name: pleomorphic liposarcoma
xref: EFO:0003083
xref: ICDO:8854/3
xref: NCI:C3705
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5703
name: mixed liposarcoma
xref: ICDO:8855/3
xref: NCI:C4253
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5704
name: sclerosing liposarcoma
xref: NCI:C6507
is_a: DOID:5690 ! well-differentiated liposarcoma

[Term]
id: DOID:5705
name: spindle cell liposarcoma
xref: NCI:C27489
is_a: DOID:5690 ! well-differentiated liposarcoma

[Term]
id: DOID:5709
name: mixed-type liposarcoma
xref: EFO:0000613
xref: NCI:C27781
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:571
name: median neuropathy
def: "Disease involving the median nerve, from its origin at the BRACHIAL PLEXUS to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (CARPAL TUNNEL SYNDROME)." [MESH:D020423]
synonym: "Distal Medial Neuropathies" EXACT []
synonym: "Distal Medial Neuropathy" EXACT []
synonym: "Median Nerve Disease" EXACT []
synonym: "Median Nerve Diseases" EXACT []
synonym: "Median Nerve Neuralgia" EXACT []
synonym: "Median Nerve Neuralgias" EXACT []
synonym: "Median Neuropathies" EXACT []
synonym: "MONONEUROPATHY OF THE MEDIAN NERVE" EXACT []
synonym: "Proximal Median Neuropathies" EXACT []
synonym: "Proximal Median Neuropathy" EXACT []
xref: EFO:0020031
xref: ICD10CM:G56.10
xref: ICD9CM:354.1
xref: MESH:D020423
is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex

[Term]
id: DOID:5711
name: vulvar liposarcoma
def: "A vulvar sarcoma that has_material_basis_in adipocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25469348 "DO"]
xref: NCI:C40321
is_a: DOID:2096 ! vulvar sarcoma
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5712
name: cutaneous liposarcoma
synonym: "liposarcoma of the skin" EXACT []
xref: NCI:C5615
is_a: DOID:2687 ! skin sarcoma
is_a: DOID:3382 ! liposarcoma
is_a: DOID:3488 ! cellulitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5713
name: mediastinum liposarcoma
def: "A liposarcoma that is located_in the mediastinum. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222671/ "DO"]
synonym: "liposarcoma of mediastinum" EXACT []
xref: NCI:C6614
is_a: DOID:3382 ! liposarcoma
is_a: DOID:4050 ! mediastinum sarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5714
name: intracranial liposarcoma
xref: NCI:C6973
xref: RDO:9004342
is_a: DOID:3382 ! liposarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5715
name: functionless pituitary adenoma
synonym: "Non-Functioning neoplasm of the Pituitary" EXACT []
synonym: "Non-Secretory adenoma of the Pituitary gland" EXACT []
xref: EFO:0008516
xref: NCI:C4348
is_a: DOID:3829 ! pituitary adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5716
name: hormone producing pituitary cancer
synonym: "growth hormone producing pituitary tumor" EXACT []
synonym: "hormone producing pituitary tumors" EXACT []
synonym: "somatotropinoma" EXACT []
is_a: DOID:1785 ! pituitary cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:5718
name: adrenal neuroblastoma
def: "An adrenal gland cancer that derives_from immature neuroblastic cells. (DO)" [http://en.wikipedia.org/wiki/Adrenal_tumor#Neuroblastoma "DO", http://www.cancer.gov/cancertopics/types/neuroblastoma "DO"]
synonym: "neuroblastoma of Adrenal gland" EXACT [NCI2004_11_17:C4827]
xref: EFO:1000075
xref: NCI:C4827
xref: RDO:9002795
is_a: DOID:3953 ! adrenal gland cancer
is_a: DOID:769 ! neuroblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5719
name: adrenal medulla cancer
def: "An adrenal gland cancer that is located_in the adrenal medulla. (DO)" [http://en.wikipedia.org/wiki/Adrenal_tumor#Tumors_of_the_Adrenal_Medulla "DO"]
synonym: "adrenal medulla neoplasm" EXACT []
synonym: "adrenal medulla tumor" EXACT []
synonym: "malignant neoplasm of adrenal medulla" EXACT []
synonym: "malignant tumor of the adrenal medulla" EXACT []
xref: GARD:5755
xref: ICD10CM:C74.1
xref: NCI:C4396
xref: NCI:C4856
is_a: DOID:3953 ! adrenal gland cancer
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:572
name: mononeuritis of upper limb and mononeuritis multiplex
xref: ICD9CM:354
is_a: DOID:1802 ! mononeuritis
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5723
name: optic atrophy
def: "An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve. (DO)" [https://eyewiki.aao.org/Optic_Atrophy "DO"]
synonym: "atrophy of optic disc" EXACT []
xref: ICD10CM:H47.2
xref: ICD9CM:377.1
xref: MESH:D009896
xref: MIM:PS165500
xref: MONDO:0003608
xref: NCI:C34863
xref: ORDO:98673
is_a: DOID:1891 ! optic nerve disease
is_a: DOID:9004462 ! Atrophy

[Term]
id: DOID:5724
name: seminal vesicle cystadenoma
def: "A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4996551/ "DO"]
xref: NCI:C39907
is_a: DOID:2634 ! cystadenoma
is_a: DOID:3855 ! seminal vesicle tumor
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5725
name: rete ovarii cystadenoma
def: "A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2852648 "DO"]
xref: MONDO:0003610
xref: NCI:C40019
is_a: DOID:2634 ! cystadenoma
is_a: DOID:3269 ! ovarian cystadenoma
is_a: DOID:6837 ! rete ovarii adenoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:5726
name: uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease
def: "A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22296276 "DO"]
synonym: "uterine ligament papillary cystadenoma" EXACT []
xref: NCI:C40142
is_a: DOID:0060095 ! uterine benign neoplasm

[Term]
id: DOID:5727
name: uterine ligament cancer
def: "A uterine cancer that is located_in the ligaments that support the uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931904/ "DO"]
synonym: "tumor of the uterine ligament" EXACT []
xref: NCI:C40133
is_a: DOID:363 ! uterine cancer

[Term]
id: DOID:5728
name: diffuse peritoneal leiomyomatosis
def: "A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23815223 "DO"]
synonym: "Disseminated Peritoneal Leiomyomatosis" EXACT []
synonym: "leiomyomatosis peritonealis disseminata" EXACT [SNOMEDCT_2005_07_31:62557001]
synonym: "LPD" EXACT []
xref: EFO:1000220
xref: GARD:12843
xref: NCI:C3958
xref: RDO:9004468
is_a: DOID:0060117 ! peritoneal benign neoplasm
is_a: DOID:5138 ! leiomyomatosis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5729
name: intravenous leiomyomatosis
def: "A leiomyomatosis that is located within the blood vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762011/ "DO"]
xref: GARD:10802
xref: NCI:C4518
xref: NCI:C5356
is_a: DOID:178 ! vascular disease
is_a: DOID:5138 ! leiomyomatosis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:573
name: nerve compression syndrome
def: "Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect." [MESH:D009408]
synonym: "entrapment neuropathies" EXACT []
synonym: "entrapment neuropathy" EXACT []
synonym: "External Nerve Compression Syndromes" EXACT []
synonym: "Internal Nerve Compression Syndromes" EXACT []
synonym: "nerve compression syndromes" EXACT []
synonym: "Nerve Entrapment" EXACT []
synonym: "nerve entrapments" EXACT []
synonym: "peripheral nerve entrapment syndrome" EXACT []
xref: EFO:0009487
xref: MESH:D009408
xref: NCI:C27221
is_a: DOID:225 ! syndrome
is_a: DOID:574 ! peripheral nervous system disease

[Term]
id: DOID:5730
name: salpingitis isthmica nodosa
def: "A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation. (DO)" [https://en.wikipedia.org/wiki/Salpingitis_isthmica_nodosa "DO"]
xref: NCI:C40119
xref: RDO:9003157
is_a: DOID:5731 ! chronic salpingitis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:5731
name: chronic salpingitis
xref: ICD10CM:N70.11
xref: NCI:C40118
is_a: DOID:5733 ! salpingitis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:5732
name: pyosalpinx
synonym: "pyosalpingitis" EXACT []
xref: NCI:C34968
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:5733 ! salpingitis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:5733
name: salpingitis
def: "A fallopian tube disease that is characterized by inflammation of the fallopian tube. (DO)" [https://en.wikipedia.org/wiki/Salpingitis "DO"]
synonym: "salpingitides" EXACT []
xref: ICD10CM:N70.91
xref: MESH:D012488
xref: NCI:C26880
is_a: DOID:1003 ! pelvic inflammatory disease
is_a: DOID:1962 ! fallopian tube disease

[Term]
id: DOID:574
name: peripheral nervous system disease
def: "A nervous system disease that affects the peripheral nervous system. (DO)" [http://en.wikipedia.org/w/index.php?title=Peripheral_neuropathy&redirect=no "DO"]
synonym: "Peripheral Nerve Disease" EXACT []
synonym: "peripheral nerve diseases" EXACT []
synonym: "peripheral nervous system diseases" EXACT []
synonym: "Peripheral Nervous System Disorders" EXACT []
synonym: "Peripheral Neuropathies" EXACT []
synonym: "Peripheral Neuropathy" EXACT []
synonym: "PNS (peripheral nervous system) diseases" EXACT []
synonym: "PNS Disease" EXACT []
synonym: "PNS Diseases" EXACT []
xref: EFO:0009387
xref: MESH:D010523
xref: NCI:C119734
xref: NCI:C27580
xref: NCI:C27587
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:5740
name: small intestinal vasoactive intestinal peptide producing tumor
synonym: "small intestinal vasoactive intestinal peptide producing tumour" EXACT []
synonym: "small intestinal VIP producing tumor" EXACT []
synonym: "small intestinal VIP producing tumour" EXACT []
xref: NCI:C27455
is_a: DOID:10154 ! small intestine cancer
is_a: DOID:5574 ! vipoma
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:5741
name: pancreatic vasoactive intestinal peptide producing tumor
synonym: "pancreatic vasoactive intestinal peptide producing tumour" EXACT []
synonym: "pancreatic vipoma" EXACT []
synonym: "pancreatic vipomas" EXACT []
synonym: "pancreatic VIP Producing tumor" EXACT []
synonym: "pancreatic VIP Producing tumour" EXACT []
xref: EFO:1000445
xref: NCI:C27454
xref: NCI:C95599
is_a: DOID:5574 ! vipoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5742
name: pancreatic acinar cell adenocarcinoma
def: "A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase. (DO)" [http://en.wikipedia.org/wiki/Acinar_cell_carcinoma_of_the_pancreas "DO", http://www.pathologyoutlines.com/topic/pancreasacinar.html "DO"]
synonym: "pancreatic acinar cell carcinoma" EXACT []
xref: EFO:1000439
xref: NCI:C7977
xref: RDO:9002952
is_a: DOID:3025 ! acinar cell carcinoma
is_a: DOID:4074 ! pancreatic adenocarcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5743
name: acinic cell breast carcinoma
def: "A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148534/ "DO"]
xref: NCI:C40367
is_a: DOID:3025 ! acinar cell carcinoma
is_a: DOID:3458 ! breast adenocarcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5744
name: ovary serous adenocarcinoma
def: "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity). (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO", http://en.wikipedia.org/wiki/Serous_carcinoma "DO"]
synonym: "high grade ovarian serous adenocarcinoma" NARROW []
synonym: "malignant ovarian serous tumor" EXACT []
synonym: "Ovarian Serous Adenocarcinofibroma" NARROW []
synonym: "OVARIAN SEROUS SURFACE PAPILLARY ADENOCARCINOMA" NARROW []
synonym: "PRIMARY LOW GRADE SEROUS ADENOCARCINOMA OF OVARY" NARROW []
synonym: "serous carcinoma of ovary" EXACT []
xref: EFO:0002917
xref: EFO:1000427
xref: EFO:1001958
xref: NCI:C40025
xref: NCI:C7550
is_a: DOID:3114 ! serous cystadenocarcinoma
is_a: DOID:3713 ! ovary adenocarcinoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5746
name: ovarian serous cystadenocarcinoma
def: "An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed. (DO)" [http://cancergenome.nih.gov/cancersselected/ovarian "DO", http://en.wikipedia.org/wiki/Serous_cystadenocarcinoma "DO"]
synonym: "serous cystadenoma" EXACT []
xref: EFO:1000043
xref: NCI:C7978
is_a: DOID:3605 ! ovarian cystadenocarcinoma
is_a: DOID:5744 ! ovary serous adenocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:5747
name: uterine ligament serous adenocarcinoma
def: "A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. (DO)" [https://journals.sagepub.com/doi/pdf/10.1177/1066896915622690 "DO"]
xref: NCI:C40136
is_a: DOID:3700 ! uterine ligament adenocarcinoma

[Term]
id: DOID:5748
name: rheumatic pulmonary valve disease
synonym: "rheumatic disease of pulmonary valve" EXACT []
synonym: "rheumatic pulmonary incompetence" EXACT []
xref: ICD10CM:I09.89
xref: ICD9CM:397.1
is_a: DOID:0060051 ! autoimmune disease of cardiovascular system
is_a: DOID:1575 ! rheumatic disease
is_a: DOID:5749 ! pulmonary valve disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:5749
name: pulmonary valve disease
synonym: "pulmonary valve disorder" EXACT []
xref: EFO:0009564
xref: ICD9CM:424.3
xref: NCI:C78579
is_a: DOID:4079 ! heart valve disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5750
name: endometrial serous adenocarcinoma
def: "A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia. (DO)" [http://en.wikipedia.org/wiki/Uterine_serous_carcinoma "DO"]
synonym: "PAPILLARY CARCINOMA OF THE CORPUS UTERI" EXACT []
synonym: "type 2 endometrial cancer" EXACT []
synonym: "Type 2 endometrial carcinoma" EXACT []
synonym: "Type II endometrial cancer" EXACT []
synonym: "type II endometrial carcinoma" EXACT []
synonym: "UPSC" EXACT []
synonym: "uterine corpus serous adenocarcinoma" EXACT []
synonym: "uterine papillary serous carcinoma" EXACT []
synonym: "uterine serous carcinoma" EXACT []
xref: EFO:1000238
xref: NCI:C27838
is_a: DOID:2870 ! endometrial adenocarcinoma
is_a: DOID:3114 ! serous cystadenocarcinoma
is_a: DOID:9460 ! uterine corpus cancer
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:5751
name: pancreatic serous cystadenocarcinoma
def: "A serous cystadenocarcinoma that is located_in the pancreas. (DO)" [https://en.wikipedia.org/wiki/Pancreatic_serous_cystadenoma "DO"]
synonym: "serous cystadenocarcinoma of pancreas" EXACT []
xref: NCI:C5724
is_a: DOID:3114 ! serous cystadenocarcinoma
is_a: DOID:4073 ! pancreatic cystadenocarcinoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5752
name: cervical serous adenocarcinoma
def: "A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25370301 "DO"]
xref: NCI:C40201
is_a: DOID:3702 ! cervical adenocarcinoma

[Term]
id: DOID:5757
name: endocervicitis
def: "A cervicitis that is located_in the endocervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23134447 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29370498 "DO"]
xref: NCI:C26762
is_a: DOID:2568 ! cervicitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5758
name: malignant mesenchymoma
alt_id: RDO:0000960
synonym: "Malignant Mesenchymal Tumor" EXACT []
xref: GARD:3369
xref: MESH:C535700
xref: NCI:C4268
is_a: DOID:2668 ! mesenchymoma

[Term]
id: DOID:5759
name: sebaceous gland neoplasm
def: "New abnormal growth of tissue in the SEBACEOUS GLANDS." [MESH:D012626]
synonym: "sebaceous gland neoplasms" EXACT []
synonym: "Sebaceous neoplasm" EXACT [NCI2004_11_17:C3363]
xref: EFO:1001172
xref: MESH:D012626
xref: NCI:C3363
xref: RDO:0006549
is_a: DOID:3165 ! skin benign neoplasm
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:9098 ! sebaceous gland disease

[Term]
id: DOID:576
name: proteinuria
def: "A kidney disease that is characterized by the presence of excess proteins in the urine. (DO)" [https://en.wikipedia.org/wiki/Proteinuria "DO"]
synonym: "proteinurias" EXACT []
xref: ICD10CM:R80
xref: ICD9CM:791.0
xref: MESH:D011507
xref: NCI:C38012
is_a: DOID:557 ! kidney disease
is_a: DOID:9003919 ! Urination Disorders
is_a: DOID:9007629 ! Urological Manifestations

[Term]
id: DOID:5760
name: sebaceous breast carcinoma
def: "A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323417/ "DO"]
xref: NCI:C40369
is_a: DOID:3459 ! breast carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:5761
name: vulvar sebaceous carcinoma
def: "A vulva carcinoma that is characterized by the presence of sebaceous secretions. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10535578 "DO"]
xref: NCI:C40309
is_a: DOID:1294 ! vulva carcinoma
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:5763
name: lung clear cell-sugar-tumor
xref: NCI:C38152
xref: RDO:9002003
is_a: DOID:3683 ! lung benign neoplasm
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:5764
name: lung meningioma
synonym: "lung primary meningioma" EXACT []
synonym: "primary pulmonary meningioma" EXACT []
synonym: "pulmonary meningioma" EXACT []
xref: NCI:C5276
xref: NCI:C5668
is_a: DOID:1324 ! lung cancer
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:5766
name: pulmonary sclerosing hemangioma
def: "A benign neoplasm of pneumocytes, cells of the PULMONARY ALVEOLI. Originally considered to be vascular in origin, it is now classified as an epithelial tumor with several elements, including solid cellular areas, papillary structure, sclerotic regions, and dilated blood-filled spaces resembling HEMANGIOMA." [MESH:D047868]
synonym: "lung sclerosing hemangioma" EXACT []
synonym: "lung sclerosing hemangiomas" EXACT []
synonym: "pneumocytoma" EXACT []
synonym: "pulmonary sclerosing hemangiomas" EXACT []
synonym: "sclerosing hemangioma of the lung" EXACT []
xref: EFO:1000337
xref: EFO:1001136
xref: MESH:D047868
xref: NCI:C5656
is_a: DOID:490 ! hemangioma of lung
is_a: DOID:495 ! sclerosing hemangioma

[Term]
id: DOID:5767
name: hilar lung neoplasm
synonym: "lung Hilum tumor" EXACT []
synonym: "neoplasm of hilus of lung" EXACT []
xref: NCI:C5671
xref: RDO:9002005
is_a: DOID:3683 ! lung benign neoplasm
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:5768
name: Nager acrofacial dysostosis
alt_id: MIM:154400
def: "An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. (DO)" [http://en.wikipedia.org/wiki/Nager_acrofacial_dysostosis "DO", http://ghr.nlm.nih.gov/condition/nager-syndrome "DO", https://www.faces-cranio.org/nager "DO"]
synonym: "Acrofacial Dysostosis 1, Nager Type" EXACT []
synonym: "Acrofacial Dysostosis, Nager Type" EXACT []
synonym: "AFD" EXACT []
synonym: "AFD1" EXACT []
synonym: "AFD, Nager type" EXACT []
synonym: "Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies" EXACT []
synonym: "Nager Acrofacial Dysostosis Syndrome" EXACT []
synonym: "Nager syndrome" EXACT []
synonym: "preaxial acrofacial dysostosis" EXACT []
synonym: "preaxial mandibulofacial dysostosis" EXACT []
synonym: "preaxial manibulofacial dysostosis" EXACT []
xref: GARD:498
xref: MESH:C538184
xref: NCI:C35795
is_a: DOID:0060379 ! acrofacial dysostosis
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:5769
name: verruciform xanthoma of skin
synonym: "cutaneous Verruciform Xanthoma" EXACT []
synonym: "verruciform xanthoma" EXACT []
xref: NCI:C4478
is_a: DOID:3345 ! xanthomatosis
is_a: DOID:37 ! skin disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5772
name: central nervous system hematologic cancer
def: "A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. (DO)" [https://www.merckmanuals.com/professional/ear\,-nose\,-and-throat-disorders/tumors-of-the-head-and-neck/jaw-tumors "DO"]
synonym: "CNS hematopoietic tumor" EXACT []
synonym: "hematopoietic neoplasm of central nervous system" RELATED []
xref: NCI:C5503
is_a: DOID:2531 ! hematologic cancer
is_a: DOID:3620 ! central nervous system cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:5773
name: oral submucous fibrosis
def: "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues. (DO)" [https://en.wikipedia.org/wiki/Oral_submucous_fibrosis "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627879/ "DO"]
synonym: "Oral cavity Submucous Fibrosis" EXACT []
synonym: "oral submucosal fibrosis" EXACT []
synonym: "oral submucosal fibrosis, including of tongue" EXACT []
synonym: "Oral Submucous Fibroses" EXACT []
xref: EFO:1001818
xref: GARD:7264
xref: ICD10CM:K13.5
xref: ICD9CM:528.8
xref: MESH:D009914
xref: NCI:C34866
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:5774
name: giant hemangioma
xref: NCI:C27777
is_a: DOID:483 ! cavernous hemangioma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5775
name: cavernous hemangioma of colon
synonym: "colonic cavernous hemangioma" EXACT []
xref: NCI:C5395
xref: RDO:9004570
is_a: DOID:483 ! cavernous hemangioma
is_a: DOID:5353 ! colonic disease
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5776
name: cavernous hemangioma of face
xref: EFO:1000152
xref: NCI:C7053
xref: RDO:9004571
is_a: DOID:483 ! cavernous hemangioma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5777
name: rectum neuroendocrine neoplasm
synonym: "neuroendocrine tumor of rectum" EXACT []
xref: NCI:C5698
is_a: DOID:1984 ! rectal benign neoplasm
is_a: DOID:1993 ! rectum cancer
is_a: DOID:4119 ! intestinal neuroendocrine benign tumor
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5781
name: atrophic flaccid tympanic membrane
xref: ICD10CM:H73.81
xref: ICD9CM:384.81
is_a: DOID:5782 ! tympanic membrane disease

[Term]
id: DOID:5782
name: tympanic membrane disease
xref: EFO:0009570
xref: ICD10CM:H73.9
xref: ICD9CM:384.9
is_a: DOID:5100 ! middle ear disease

[Term]
id: DOID:5784
name: esophageal neuroendocrine tumor
synonym: "esophageal neuroendocrine tumour" EXACT []
synonym: "neuroendocrine tumor of esophagus" EXACT []
synonym: "neuroendocrine tumour of oesophagus" EXACT []
xref: NCI:C5821
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:5041 ! esophageal cancer
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:5789
name: mixed hepatoblastoma
synonym: "mixed epithelial and mesenchymal hepatoblastoma" EXACT []
xref: NCI:C7097
xref: RDO:9004067
is_a: DOID:687 ! hepatoblastoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:5798
name: macrotrabecular hepatoblastoma
xref: NCI:C7095
xref: RDO:9004068
is_a: DOID:687 ! hepatoblastoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:580
name: uric acid nephrolithiasis
alt_id: MIM:605990
def: "A nephrolithiasis that is characterized by stones composed predominantly uric acid. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1831527/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100778/ "DO"]
synonym: "acute urate nephropathy" EXACT []
synonym: "acute uric acid nephropathy" RELATED []
synonym: "chronic urate nephropathy" RELATED []
synonym: "urate nephropathy" EXACT []
synonym: "uric acid nephrolithiasis, susceptibility to" RELATED []
synonym: "uric acid nephropathy" EXACT []
synonym: "uric acid urolithiasis" EXACT []
synonym: "uric acid urolithiasis, susceptibility to" RELATED []
xref: ICD9CM:274.11
xref: NCI:C123037
xref: NCI:C123245
is_a: DOID:585 ! nephrolithiasis

[Term]
id: DOID:5804
name: discrete subaortic stenosis
def: "A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." [MESH:D021922]
synonym: "Discrete Subaortic Stenoses" EXACT []
xref: EFO:1000901
xref: MESH:D021922
is_a: DOID:5805 ! subvalvular aortic stenosis

[Term]
id: DOID:5805
name: subvalvular aortic stenosis
def: "An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26731888 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29377232 "DO"]
synonym: "aortic subvalvular stenoses" EXACT []
synonym: "subaortic stenosis" EXACT []
xref: EFO:1001199
xref: GARD:5052
xref: MESH:D001020
xref: NCI:C85172
is_a: DOID:1712 ! aortic valve stenosis

[Term]
id: DOID:5806
name: stork bite
alt_id: MIM:163100
alt_id: RDO:0015583
alt_id: RDO:9004510
synonym: "erythema nuchae" EXACT []
synonym: "nevus flammeus of nape and neck" EXACT []
synonym: "salmon patch nevus" EXACT []
synonym: "Unna's nevus" EXACT []
synonym: "Unna Nevus" EXACT []
xref: MESH:C567524
is_a: DOID:2725 ! capillary hemangioma
is_a: DOID:9001616 ! Port-Wine Stain
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5809
name: childhood parosteal osteogenic sarcoma
xref: ICD-O:M9180/3
xref: NCI:C6589
is_a: DOID:3373 ! parosteal osteosarcoma

[Term]
id: DOID:5810
name: adenosine deaminase deficiency
alt_id: MIM:102700
def: "A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. (DO)" [http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency "DO", https://pubmed.ncbi.nlm.nih.gov/2166947/ "DO", https://pubmed.ncbi.nlm.nih.gov/2783588/ "DO"]
synonym: "ADA" EXACT []
synonym: "ADA deficiency" EXACT []
synonym: "ADA-SCID" EXACT []
synonym: "adenosine deaminase deficient severe combined immunodeficiency" EXACT []
synonym: "adenosine deaminase-deficient severe combined immunodeficiency disease" EXACT []
synonym: "agammaglobulinemia, Swiss type" EXACT []
synonym: "Bubble boy disease" EXACT []
synonym: "Delayed-Late-Onset Adenosine Deaminase Deficiency" EXACT []
synonym: "PARTIAL ADA DEFICIENCY" NARROW []
synonym: "partial adenosine deaminase deficiency" NARROW []
synonym: "SCID1" EXACT []
synonym: "SCID due to ADA deficiency" EXACT []
synonym: "SCID Due to ADA Deficiency, Delayed Onset" EXACT []
synonym: "SCID Due to ADA Deficiency, Early-Onset" EXACT []
synonym: "SCID DUE TO ADA DEFICIENCY, EARLY-ONSET  SCID DUE TO ADA DEFICIENCY, DELAYED ONSET" NARROW []
synonym: "SCID DUE TO ADA DEFICIENCY, LATE-ONSET" NARROW []
synonym: "severe combined immunodeficiency, alymphocytotic type" EXACT []
synonym: "severe combined immunodeficiency, autosomal recessive, T-cell-negative, B-cell-negative, NK-cell-negative, due to adenosine deaminase deficiency" EXACT []
synonym: "severe combined immunodeficiency due to ADA deficiency" EXACT []
synonym: "severe combined immunodeficiency due to adenosine deaminase deficiency" EXACT []
xref: EFO:0009147
xref: GARD:5748
xref: ICD10CM:D81.30
xref: MESH:C531816
xref: NCI:C3962
is_a: DOID:2583 ! agammaglobulinemia
is_a: DOID:627 ! severe combined immunodeficiency
is_a: DOID:653 ! purine-pyrimidine metabolic disorder

[Term]
id: DOID:5812
name: MHC class II deficiency
def: "A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes. (DO)" [https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii "DO", https://www.omim.org/entry/209920 "DO"]
synonym: "BLS" EXACT []
xref: ICD10CM:D81.6
xref: MIM:PS209920
xref: NCI:C3895
is_a: DOID:627 ! severe combined immunodeficiency
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:5813
name: purine nucleoside phosphorylase deficiency
def: "A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function. (DO)" [http://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency "DO", https://pubmed.ncbi.nlm.nih.gov/1384322/ "DO", https://pubmed.ncbi.nlm.nih.gov/3029074/ "DO"]
synonym: "deficiency of inosine phosphorylase" EXACT []
synonym: "nucleoside phosphorylase deficiency" EXACT []
synonym: "nucleoside phosphorylase polymorphism" RELATED []
synonym: "PNP deficiency" EXACT []
xref: GARD:4606
xref: ICD10CM:D81.5
xref: MESH:C562587
xref: MIM:613179
xref: MONDO:0013171
xref: NCI:C176817
xref: NCI:C3963
xref: ORDO:760
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
is_a: DOID:653 ! purine-pyrimidine metabolic disorder

[Term]
id: DOID:5815
name: cerebral lymphoma
def: "A cerebrum cancer that affects the lymph cells and derives_from the brain. (DO)" [http://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma "DO", http://www.cancer.gov/cancertopics/pdq/treatment/primary-CNS-lymphoma/Patient/page1 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000734.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/10563426 "DO"]
synonym: "brain primary lymphoma" EXACT []
synonym: "primary cerebral lymphoma" EXACT []
synonym: "primary Lymphoma of Cerebrum" EXACT []
xref: NCI:C7611
is_a: DOID:0060058 ! lymphoma
is_a: DOID:368 ! cerebrum cancer
is_a: DOID:5772 ! central nervous system hematologic cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:582
name: hemoglobinuria
def: "The presence of free HEMOGLOBIN in the URINE, indicating hemolysis of ERYTHROCYTES within the vascular system. After saturating the hemoglobin-binding proteins (HAPTOGLOBINS), free hemoglobin begins to appear in the urine." [MESH:D006456]
xref: ICD10CM:R82.3
xref: ICD9CM:791.2
xref: MESH:D006456
xref: NCI:C34677
is_a: DOID:576 ! proteinuria
is_a: DOID:583 ! hemolytic anemia

[Term]
id: DOID:5820
name: composite lymphoma
def: "A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. (DO)" [http://www.cancer.gov/dictionary/?CdrID=633086 "DO"]
synonym: "composite lymphomas" EXACT []
xref: EFO:0007215
xref: MESH:D058617
xref: NCI:C38661
is_a: DOID:0060058 ! lymphoma
is_a: DOID:707 ! B-cell lymphoma
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:5821
name: methotrexate-associated lymphoproliferation
xref: NCI:C7184
is_a: DOID:0060058 ! lymphoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5822
name: gray zone lymphoma
def: "A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas. (DO)" [http://en.wikipedia.org/wiki/Gray_zone_lymphoma "DO"]
xref: GARD:10897
xref: NCI:C37869
xref: RDO:9004789
is_a: DOID:0060058 ! lymphoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5823
name: childhood lymphoma
synonym: "pediatric lymphoma" EXACT []
xref: ICD-O:M9590/3
xref: MONDO:0003659
xref: NCI:C5165
is_a: DOID:0060058 ! lymphoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5825
name: adult lymphoma
xref: NCI:C7587
is_a: DOID:0060058 ! lymphoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5826
name: breast lymphoma
def: "A breast cancer that arises_from lymphocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26380896 "DO"]
synonym: "lymphoma of breast" EXACT []
synonym: "lymphoma of the breast" EXACT []
synonym: "malignant lymphoma of breast" EXACT []
is_a: DOID:0060058 ! lymphoma
is_a: DOID:1612 ! breast cancer
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:5828
name: endometrioid ovary carcinoma
def: "An ovary adenocarcinoma that has_material_basis_in endometrial tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25120828 "DO"]
synonym: "endometrioid carcinoma of ovary" EXACT []
synonym: "Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation" NARROW []
synonym: "ovarian endometrioid carcinoma" EXACT []
xref: EFO:1000416
xref: EFO:1000417
xref: EFO:1001515
xref: NCI:C7979
is_a: DOID:3713 ! ovary adenocarcinoma
is_a: DOID:9004265 ! Endometrioid Carcinomas
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:5829
name: uterine ligament endometrioid adenocarcinoma
def: "A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. (DO)" [https://journals.sagepub.com/doi/pdf/10.1177/1066896915622690 "DO"]
xref: NCI:C40138
is_a: DOID:3700 ! uterine ligament adenocarcinoma
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:583
name: hemolytic anemia
def: "A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/hemolytic-anemia "DO", MESH:D000743]
synonym: "acquired hemolytic anemia" EXACT []
synonym: "DIEGO BLOOD GROUP ANTIGEN" RELATED []
synonym: "HEMOGLOBIN ABRAHAM LINCOLN" RELATED []
synonym: "Hemoglobin Bucuresti" RELATED []
synonym: "HEMOGLOBIN DRENTHE" RELATED []
synonym: "HEMOGLOBIN GENOVA" RELATED []
synonym: "HEMOGLOBIN HYOGO" RELATED []
synonym: "HEMOGLOBIN ISEHARA" RELATED []
synonym: "HEMOGLOBIN KOBE" RELATED []
synonym: "Hemoglobin Louisville" RELATED []
synonym: "HEMOGLOBIN MANHATTAN" RELATED []
synonym: "HEMOGLOBIN MIZUHO" RELATED []
synonym: "Hemoglobin Nijkerk" RELATED []
synonym: "HEMOGLOBIN OLMSTED" RELATED []
synonym: "HEMOGLOBIN PERTH" RELATED []
synonym: "HEMOGLOBIN REDONDO" RELATED []
synonym: "HEMOGLOBIN SABINE" RELATED []
synonym: "HEMOGLOBIN VOLGA" RELATED []
synonym: "HEMOGLOBIN ZURICH" RELATED []
synonym: "microangiopathic anemia" EXACT []
synonym: "microangiopathic hemolytic anemia" EXACT []
synonym: "severe hemolytic anemia" NARROW []
xref: EFO:0005558
xref: ICD10CM:D55-D59
xref: MESH:D000743
xref: NCI:C34376
is_a: DOID:720 ! normocytic anemia

[Term]
id: DOID:5830
name: cervical endometrioid adenocarcinoma
def: "A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23722512 "DO"]
synonym: "endometrioid carcinoma of the cervix uteri" EXACT []
xref: EFO:1000164
xref: NCI:C6343
is_a: DOID:3702 ! cervical adenocarcinoma

[Term]
id: DOID:5831
name: fallopian tube endometrioid adenocarcinoma
def: "A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8946874 "DO"]
synonym: "endometrioid carcinoma of the fallopian tube" EXACT []
synonym: "fallopian tube endometrioid cancer" EXACT []
synonym: "fallopian tube endometrioid neoplasm" RELATED []
xref: NCI:C40111
xref: NCI:C6279
is_a: DOID:3706 ! fallopian tube adenocarcinoma
is_a: DOID:9004265 ! Endometrioid Carcinomas
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:5834
name: spermatocytoma
synonym: "spermatocytic seminoma" EXACT []
xref: NCI:C39921
is_a: DOID:2998 ! testicular cancer
is_a: DOID:4440 ! seminoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5838
name: extragonadal seminoma
synonym: "primary extragonadal seminoma" EXACT []
xref: NCI:C7327
is_a: DOID:4440 ! seminoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:5842
name: testis seminoma
synonym: "seminoma of testis" EXACT []
synonym: "testicular seminoma pure" EXACT []
xref: EFO:0003101
xref: NCI:C7328
xref: NCI:C9309
is_a: DOID:4440 ! seminoma
is_a: DOID:5556 ! testicular malignant germ cell cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:5843
name: posteroinferior myocardial infarction
xref: NCI:C36068
xref: RDO:9001869
is_a: DOID:5844 ! myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:5844
name: myocardial infarction
alt_id: MIM:608446
alt_id: MIM:608557
def: "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. (DO)" [https://en.wikipedia.org/wiki/Myocardial_infarction "DO", https://www.ncbi.nlm.nih.gov/pubmed/17951287 "DO"]
synonym: "Cardiovascular Stroke" EXACT []
synonym: "cardiovascular strokes" EXACT []
synonym: "F7-RELATED CONDITION" BROAD []
synonym: "heart attack" EXACT []
synonym: "Heart Attacks" EXACT []
synonym: "MCI1" NARROW []
synonym: "MCI2" NARROW []
synonym: "Myocardial Infarct" EXACT []
synonym: "MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO" RELATED []
synonym: "MYOCARDIAL INFARCTION, PROTECTION AGAINST" RELATED []
synonym: "Myocardial Infarctions" EXACT []
synonym: "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO" RELATED []
synonym: "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1" RELATED []
synonym: "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2" RELATED []
synonym: "myocardial infarcts" EXACT []
synonym: "post-operative myocardial infarction" NARROW []
xref: EFO:0000612
xref: EFO:0009953
xref: MESH:D009203
xref: NCI:C27996
is_a: DOID:3393 ! coronary artery disease
is_a: DOID:9007102 ! Myocardial Ischemia

[Term]
id: DOID:5845
name: anterolateral myocardial infarction
def: "MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." [MESH:D056988]
synonym: "acute anterior wall myocardial infarction" EXACT []
synonym: "anterior wall myocardial infarction" EXACT []
synonym: "anterolateral myocardial infarctions" EXACT []
xref: EFO:1000812
xref: MESH:D056988
is_a: DOID:5844 ! myocardial infarction

[Term]
id: DOID:5846
name: septal myocardial infarction
xref: RDO:9001870
is_a: DOID:5844 ! myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:5847
name: posterior myocardial infarction
is_a: DOID:5844 ! myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:5848
name: apical myocardial infarction
xref: NCI:C36073
is_a: DOID:5844 ! myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:5849
name: subendocardial myocardial infarction
xref: NCI:C35305
xref: RDO:9001873
is_a: DOID:5844 ! myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:585
name: nephrolithiasis
def: "A kidney disease characterized by the formation of stoney concentrations in the kidneys. (DO)" [https://ghr.nlm.nih.gov/condition/kidney-stones "DO", https://medlineplus.gov/kidneystones.html "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518455/ "DO"]
synonym: "calcium oxalate urolithiasis" EXACT []
synonym: "calculus of kidney and ureter" EXACT []
synonym: "NEPHROLITHIASIS, CALCIUM OXALATE" EXACT []
synonym: "stone - kidney/ureter" EXACT []
synonym: "UAN" EXACT []
xref: EFO:0004253
xref: ICD10CM:N20
xref: ICD9CM:592
xref: MESH:D053040
is_a: DOID:0080653 ! urolithiasis
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:5850
name: inferior myocardial infarction
def: "MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." [MESH:D056989]
synonym: "Acute Inferior Myocardial Infarction" EXACT []
synonym: "Diaphragmatic Myocardial Infarction" EXACT []
synonym: "diaphragmatic myocardial infarctions" EXACT []
synonym: "Inferior Myocardial Infarctions" EXACT []
synonym: "inferior wall myocardial infarction" EXACT []
xref: EFO:1000983
xref: MESH:D056989
is_a: DOID:5844 ! myocardial infarction

[Term]
id: DOID:5851
name: posterolateral myocardial infarction
xref: NCI:C35672
xref: RDO:9001874
is_a: DOID:5844 ! myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:5852
name: inferolateral myocardial infarct
synonym: "inferolateral myocardial infarction" EXACT []
xref: NCI:C35673
xref: RDO:9001875
is_a: DOID:5844 ! myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:5853
name: lateral myocardial infarction
is_a: DOID:5844 ! myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:5854
name: silent myocardial infarction
xref: NCI:C35400
is_a: DOID:5844 ! myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:5855
name: anteroseptal myocardial infarction
synonym: "anteroseptal myocardial infarctions" EXACT []
is_a: DOID:5845 ! anterolateral myocardial infarction
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5859
name: periosteal chondrosarcoma
xref: ICDO:9221/3
is_a: DOID:3371 ! chondrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5861
name: myxoid chondrosarcoma
xref: ICDO:9231/3
xref: MONDO:0003681
xref: NCI:C4303
is_a: DOID:3371 ! chondrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5862
name: localized chondrosarcoma
xref: NCI:C8778
xref: RDO:9004145
is_a: DOID:3371 ! chondrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5866
name: juxtacortical chondrosarcoma
xref: NCI:C7357
is_a: DOID:3371 ! chondrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5867
name: clear cell chondrosarcoma
xref: ICDO:9242/3
xref: MESH:D000077207
xref: NCI:C6475
is_a: DOID:3371 ! chondrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5870
name: eosinophilic pneumonia
def: "A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. (DO)" [http://en.wikipedia.org/wiki/Eosinophilic_pneumonia "DO"]
xref: EFO:0007257
xref: GARD:107
xref: ICD10CM:J82
xref: NCI:C35150
is_a: DOID:552 ! pneumonia
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:5874
name: retroperitoneal germ cell neoplasm
synonym: "germ cell tumor of Retroperitoneum" EXACT [NCI2004_11_17:C6447]
xref: NCI:C6447
is_a: DOID:5875 ! retroperitoneal cancer

[Term]
id: DOID:5875
name: retroperitoneal cancer
def: "A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum. (DO)" [http://en.wikipedia.org/wiki/Retroperitoneal_space "DO"]
synonym: "malignant neoplasm of retroperitoneum" EXACT []
synonym: "malignant neoplasm of retroperitoneum and peritoneum" EXACT []
synonym: "malignant retroperitoneal cancer" EXACT []
synonym: "malignant tumor of peritoneum and retroperitoneum" EXACT []
xref: EFO:0007466
xref: ICD10CM:C48
xref: ICD10CM:C48.0
xref: ICD9CM:158
xref: ICD9CM:158.0
xref: NCI:C3357
xref: NCI:C3537
is_a: DOID:5093 ! thoracic cancer
is_a: DOID:9004476 ! Retroperitoneal Neoplasms
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:5876
name: apocrine sweat gland neoplasm
synonym: "apocrine tumor" EXACT []
xref: NCI:C6798
is_a: DOID:2664 ! sweat gland benign neoplasm
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:5877
name: endocardium cancer
synonym: "malignant endocardial tumor" EXACT []
synonym: "malignant neoplasm of endocardium" EXACT []
synonym: "malignant tumor of endocardium" EXACT []
xref: NCI:C4570
xref: NCI:C5346
is_a: DOID:0050825 ! endocardium disease
is_a: DOID:117 ! heart cancer
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:5884
name: benign intermediate mesothelioma
synonym: "Well-differentiated Papillary tumor of Mesothelium" EXACT [NCI2004_11_17:C7635]
xref: NCI:C7635
xref: RDO:9004678
is_a: DOID:2645 ! benign mesothelioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:5889
name: anaplastic ependymoma
synonym: "undifferentiated ependymoma" EXACT []
xref: ICDO:9392/3
is_a: DOID:5074 ! high grade ependymoma
created_by: mtutaj
creation_date: 2021-02-24T23:17:11Z

[Term]
id: DOID:589
name: congenital hemolytic anemia
def: "Hemolytic anemia due to various intrinsic defects of the erythrocyte." [MESH:D000745]
synonym: "ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL" EXACT []
synonym: "congenital hemolytic anaemia" EXACT []
synonym: "congenital hemolytic anemias" EXACT []
synonym: "hemoglobin Cheverly" RELATED []
synonym: "HEMOGLOBIN I (TOULOUSE)" RELATED []
synonym: "HEMOGLOBIN ISTANBUL" RELATED []
synonym: "HEMOGLOBIN SAINT ETIENNE" RELATED []
synonym: "HEMOGLOBIN SANTA ANA" RELATED []
synonym: "HEMOGLOBIN TOULOUSE" RELATED []
synonym: "HEMOGLOBIN WASHTENAW" RELATED []
synonym: "hereditary hemolytic anaemia" EXACT []
synonym: "Hereditary Hemolytic Anemia" EXACT []
synonym: "hereditary hemolytic anemias" EXACT []
xref: GARD:6167
xref: ICD10CM:D58.9
xref: ICD9CM:282
xref: MESH:D000745
xref: NCI:C34379
is_a: DOID:0080015 ! physical disorder
is_a: DOID:583 ! hemolytic anemia

[Term]
id: DOID:5890
name: malignant adult ependymoma
xref: NCI:C8269
is_a: DOID:5074 ! high grade ependymoma
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:5893
name: childhood malignant mesenchymoma
xref: ICD-O:M8990/3
xref: NCI:C8097
is_a: DOID:5758 ! malignant mesenchymoma

[Term]
id: DOID:5894
name: adult malignant mesenchymoma
xref: NCI:C7947
is_a: DOID:5758 ! malignant mesenchymoma

[Term]
id: DOID:5895
name: clear cell cystadenofibroma
def: "A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/514560 "DO"]
xref: NCI:C8988
is_a: DOID:5482 ! cystadenofibroma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:5896
name: ovarian clear cell cystadenofibroma
def: "An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6692303 "DO"]
xref: NCI:C40086
is_a: DOID:5897 ! ovarian clear cell adenofibroma

[Term]
id: DOID:5897
name: ovarian clear cell adenofibroma
def: "An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28861185 "DO"]
xref: NCI:C40085
is_a: DOID:0060112 ! ovarian benign neoplasm

[Term]
id: DOID:5900
name: meningeal melanocytoma
def: "A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. (DO)" [https://radiopaedia.org/articles/meningeal-melanocytosis?lang=us "DO"]
synonym: "leptomeningeal melanocytoma" EXACT []
synonym: "melanocytoma of meninges" EXACT []
xref: EFO:1000370
xref: EFO:1000493
xref: ICDO:8728/1
xref: NCI:C4662
xref: ORDO:252046
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:4955 ! central nervous system melanocytic neoplasm

[Term]
id: DOID:5907
name: penis non-invasive verrucous carcinoma
synonym: "non-invasive penile verrucous carcinoma" EXACT []
xref: NCI:C27791
is_a: DOID:5908 ! penis verrucous carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:5908
name: penis verrucous carcinoma
synonym: "verrucous squamous carcinoma of penis" EXACT []
xref: NCI:C6982
is_a: DOID:3737 ! verrucous carcinoma
is_a: DOID:5518 ! penis squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:591
name: phobic disorder
def: "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. (DO)" [http://en.wikipedia.org/wiki/Anxiety_disorder "DO"]
synonym: "Claustrophobia" EXACT []
synonym: "claustrophobias" EXACT []
synonym: "Phobia" EXACT []
synonym: "phobias" EXACT []
synonym: "phobic disorders" EXACT []
synonym: "Phobic Neuroses" EXACT []
synonym: "school phobia" EXACT []
synonym: "school phobias" EXACT []
xref: EFO:1001908
xref: ICD10CM:F40
xref: ICD9CM:300.20
xref: MESH:D010698
xref: NCI:C35420
is_a: DOID:2030 ! anxiety disorder

[Term]
id: DOID:5913
name: brachial plexus neoplasm
synonym: "tumor of the brachial plexus" EXACT []
xref: NCI:C5823
is_a: DOID:4693 ! nerve plexus neoplasm

[Term]
id: DOID:5914
name: diffuse sclerosing papillary thyroid carcinoma
def: "A papillary thyroid carcinoma that is characterized by diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36546348/ "DO", https://pubmed.ncbi.nlm.nih.gov/36995892/ "DO"]
synonym: "diffuse sclerosing papillary carcinoma" EXACT []
synonym: "Diffuse sclerosing papillary thyroid cancer (DSPTC)" EXACT []
synonym: "diffuse sclerosing PTC" EXACT []
synonym: "diffuse sclerosing variant thyroid gland papillary carcinoma" EXACT []
synonym: "nonencapsulated sclerosing carcinoma" EXACT []
synonym: "nonencapsulated sclerosing neoplasm" EXACT []
xref: ICDO:8350/3
xref: MONDO:0003701
xref: NCI:C7427
is_a: DOID:3969 ! papillary thyroid carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:5915
name: uterus intravascular leiomyomatosis
def: "An uterine corpus leiomyomatosis that is located_in the blood vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8950762 "DO"]
synonym: "intravascular leiomyomatosis of uterus" EXACT []
xref: RDO:9004479
is_a: DOID:5916 ! uterine corpus leiomyomatosis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5916
name: uterine corpus leiomyomatosis
def: "An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23383444 "DO", https://www.uptodate.com/contents/variants-of-uterine-leiomyomas-fibroids "DO"]
xref: NCI:C40170
is_a: DOID:0060095 ! uterine benign neoplasm
is_a: DOID:5138 ! leiomyomatosis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5917
name: uterine corpus diffuse leiomyomatosis
def: "An uterine corpus leiomyomatosis that is located throughout the uterine corpus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18754301 "DO"]
xref: RDO:9004486
is_a: DOID:5916 ! uterine corpus leiomyomatosis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5921
name: adult brainstem mixed glioma
synonym: "adult brain stem mixed glioma" EXACT [NCI2004_11_17:C9371]
xref: NCI:C9371
is_a: DOID:4813 ! adult brain stem glioma

[Term]
id: DOID:5922
name: adult brainstem astrocytoma
xref: NCI:C6954
is_a: DOID:4813 ! adult brain stem glioma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:5923
name: distal biliary tract carcinoma
synonym: "carcinoma of the Distal biliary tract" EXACT [NCI2004_11_17:C7109]
xref: NCI:C7109
is_a: DOID:4897 ! bile duct carcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:5926
name: extrahepatic bile duct small cell adenocarcinoma
synonym: "oat cell extrahepatic bile duct carcinoma" EXACT []
xref: NCI:C5845
is_a: DOID:3495 ! extrahepatic bile duct adenocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:593
name: agoraphobia
def: "A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. (DO)" [http://en.wikipedia.org/wiki/Anxiety_disorder "DO"]
synonym: "Agoraphobias" EXACT []
synonym: "fear of open spaces" EXACT []
xref: EFO:1001872
xref: ICD10CM:F40.0
xref: MESH:D000379
xref: NCI:C34362
is_a: DOID:591 ! phobic disorder
relationship: part_of DOID:9000623 ! panic disorder with agoraphobia

[Term]
id: DOID:5936
name: ovarian mixed germ cell neoplasm
def: "An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25366470 "DO"]
synonym: "mixed germ cell tumor of ovary" EXACT []
xref: NCI:C8114
xref: RDO:9003448
is_a: DOID:3306 ! mixed germ cell cancer
is_a: DOID:5351 ! ovarian primitive germ cell tumor
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:594
name: panic disorder
alt_id: MIM:167870
alt_id: MIM:607853
alt_id: MIM:609985
def: "An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. (DO)" [http://www.nimh.nih.gov/health/topics/panic-disorder/index.shtml "DO"]
synonym: "catechol-o-methyltransferase polymorphism" RELATED []
synonym: "PAND1" NARROW []
synonym: "PAND2" NARROW []
synonym: "PAND3" NARROW []
synonym: "panic anxiety syndrome" EXACT []
synonym: "Panic Attack" EXACT []
synonym: "Panic Attacks" EXACT []
synonym: "panic disorder 1" NARROW []
synonym: "panic disorder 2" NARROW []
synonym: "panic disorder 3" NARROW []
synonym: "Panic Disorders" EXACT []
synonym: "PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED" RELATED []
synonym: "PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 4q-RELATED" RELATED []
synonym: "PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 9q-RELATED" RELATED []
synonym: "panic disorder with joint laxity" NARROW []
synonym: "panic disorder without agoraphobia" NARROW []
xref: EFO:0004262
xref: EFO:1001907
xref: ICD10CM:F41.0
xref: MESH:D016584
xref: MIM:PS167870
xref: NCI:C34890
is_a: DOID:2030 ! anxiety disorder

[Term]
id: DOID:5940
name: malignant peripheral nerve sheath tumor
synonym: "malignant neoplasm of the peripheral nerve sheath" EXACT []
synonym: "malignant peripheral nerve sheath tumors" EXACT []
synonym: "Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation" NARROW []
xref: EFO:0000194
xref: EFO:0000760
xref: EFO:1000361
xref: GARD:10872
xref: ICDO:9540/3
xref: NCI:C125415
xref: NCI:C3798
is_a: DOID:3193 ! peripheral nerve sheath neoplasm
is_a: DOID:956 ! peripheral nerve schwannoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:5948
name: angiokeratoma of mibelli
xref: MONDO:0003712
xref: NCI:C3927
is_a: DOID:479 ! angiokeratoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5949
name: angiokeratoma circumscriptum
xref: NCI:C7751
is_a: DOID:479 ! angiokeratoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:5957
name: bladder urachal squamous cell carcinoma
xref: NCI:C39845
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:5958 ! bladder urachal carcinoma
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:5958
name: bladder urachal carcinoma
xref: NCI:C39842
is_a: DOID:11817 ! urachus cancer
is_a: DOID:4007 ! bladder carcinoma
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:5973
name: kidney pelvis papillary carcinoma
def: "A papillary carcinoma that is located_in the kidney pelvis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13056223 "DO"]
synonym: "papillary carcinoma of renal pelvis" EXACT []
xref: NCI:C6148
is_a: DOID:3113 ! papillary carcinoma
is_a: DOID:5974 ! renal pelvis transitional cell carcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5974
name: renal pelvis transitional cell carcinoma
synonym: "urothelial cell carcinoma of renal pelvis" EXACT []
xref: EFO:0003017
xref: NCI:C7355
is_a: DOID:2671 ! transitional cell carcinoma
is_a: DOID:4919 ! renal pelvis carcinoma
is_a: DOID:9000614 ! upper tract urothelial carcinoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:5975
name: renal pelvis papillary tumor
synonym: "papillary neoplasm of renal pelvis" EXACT []
xref: NCI:C8603
is_a: DOID:2615 ! papilloma
is_a: DOID:5977 ! renal pelvis benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5976
name: occlusion precerebral artery
synonym: "Occlusion and stenosis of multiple and bilateral precerebral arteries" RELATED []
synonym: "occlusion and stenosis of precerebral artery" RELATED []
xref: EFO:0009677
xref: ICD10CM:I65.9
xref: ICD9CM:433.9
is_a: DOID:6713 ! cerebrovascular disease
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:5977
name: renal pelvis benign neoplasm
synonym: "neoplasm of renal pelvis" EXACT []
synonym: "tumor of kidney pelvis" EXACT []
synonym: "tumor of renal pelvis" EXACT []
xref: EFO:1000118
xref: NCI:C8404
is_a: DOID:3116 ! kidney benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:5982
name: kidney fibrosarcoma
synonym: "fibrosarcoma of the kidney" EXACT []
xref: NCI:C7726
is_a: DOID:3355 ! fibrosarcoma
is_a: DOID:4242 ! kidney sarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:5983
name: kidney osteogenic sarcoma
def: "A kidney sarcoma that starts in the bones and that is located in the kidney. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1768219 "DO"]
synonym: "renal osteogenic sarcoma" EXACT []
xref: NCI:C6181
is_a: DOID:3347 ! osteosarcoma
is_a: DOID:4242 ! kidney sarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:599
name: specific phobia
alt_id: MIM:608251
def: "A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. (DO)" [http://en.wikipedia.org/wiki/Specific_phobia "DO"]
synonym: "blood-injection-injury phobia" NARROW []
synonym: "simple phobia" EXACT []
xref: EFO:1001878
xref: EFO:1001918
xref: ICD10CM:F40.2
xref: MESH:C562465
xref: NCI:C35284
is_a: DOID:591 ! phobic disorder

[Term]
id: DOID:5990
name: internal auditory canal meningioma
synonym: "meningioma of the internal auditory canal" EXACT []
xref: NCI:C5307
is_a: DOID:3565 ! meningioma
is_a: DOID:5102 ! inner ear cancer
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:5997
name: non-proliferative fibrocystic change of the breast
def: "A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27483712 "DO"]
synonym: "non-proliferative fibrocystic change" EXACT []
xref: NCI:C6943
is_a: DOID:10354 ! breast fibrocystic disease

[Term]
id: DOID:5998
name: microglandular adenosis
def: "A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148517/ "DO"]
synonym: "adenosis of breast" EXACT []
synonym: "adenosis of the breast" EXACT []
synonym: "breast adenosis" EXACT []
synonym: "microglandular adenoses" EXACT []
xref: EFO:0006891
xref: NCI:C3484
is_a: DOID:3463 ! breast disease

[Term]
id: DOID:5999
name: apocrine adenosis of breast
def: "A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20123450 "DO"]
synonym: "apocrine adenosis of the breast" EXACT []
xref: NCI:C5198
is_a: DOID:5997 ! non-proliferative fibrocystic change of the breast

[Term]
id: DOID:600
name: animal phobia
def: "A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all. (DO)" [http://hubpages.com/hub/list-of-animal-phobias "DO"]
synonym: "fear of animals" EXACT []
synonym: "zoophobia" EXACT []
xref: EFO:1001876
xref: MESH:C000719220
xref: NCI:C35273
is_a: DOID:599 ! specific phobia

[Term]
id: DOID:6000
name: congestive heart failure
def: "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. (DO)" [http://en.wikipedia.org/wiki/Heart_disease "DO"]
synonym: "advanced heart failure" NARROW []
synonym: "Beta-2-adrenoreceptor agonist, reduced response to" RELATED []
synonym: "Cardiac Failure" EXACT []
synonym: "CHF" EXACT []
synonym: "Chronic Heart Failure" NARROW []
synonym: "congestive cardiac failure" EXACT []
synonym: "congestive heart disease" EXACT []
synonym: "Congestive heart failure and beta-blocker response, modifier of" RELATED []
synonym: "Congestive heart failure, modifier of" RELATED []
synonym: "Heart Decompensation" EXACT []
synonym: "Heart Failure" EXACT []
synonym: "high output heart failure" NARROW []
synonym: "left sided heart failure" NARROW []
synonym: "moderate heart failure" NARROW []
synonym: "Myocardial Failure" EXACT []
synonym: "right sided heart failure" NARROW []
synonym: "symptomatic heart failure" NARROW []
synonym: "weak heart" EXACT []
xref: EFO:0000373
xref: EFO:0003144
xref: EFO:0003145
xref: EFO:0003146
xref: EFO:0003148
xref: EFO:0003149
xref: ICD10CM:I50
xref: ICD10CM:I50.9
xref: ICD9CM:428
xref: ICD9CM:428.0
xref: MESH:D006333
xref: NCI:C3080
xref: NCI:C50577
is_a: DOID:114 ! heart disease

[Term]
id: DOID:60000
name: appendix disease
def: "A gastrointestinal system disease that is located_in the appendix. (DO)" [https://en.wikipedia.org/wiki/Appendix "DO", https://www.ncbi.nlm.nih.gov/pubmed/15807474 "DO"]
xref: EFO:0009542
is_a: DOID:77 ! gastrointestinal system disease

[Term]
id: DOID:60001
name: pulmonary artery disease
def: "An artery disease that is located in the lungs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23737196 "DO"]
is_a: DOID:0050828 ! artery disease
is_a: DOID:850 ! lung disease

[Term]
id: DOID:60002
name: Bartholin's gland disease
def: "A female reproductive system disease that is located in Bartholin's gland. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26195958 "DO"]
xref: EFO:0009469
is_a: DOID:229 ! female reproductive system disease

[Term]
id: DOID:60003
name: Bartholin's gland cancer
def: "A vulva cancer that is located in Bartholin's gland. (DO)" [https://en.wikipedia.org/wiki/Bartholin_gland_carcinoma "DO"]
xref: EFO:1000103
is_a: DOID:1245 ! vulva cancer
is_a: DOID:60002 ! Bartholin's gland disease

[Term]
id: DOID:60004
name: malignant cystadenoma
is_a: DOID:0080364 ! malignant adenoma
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:60006
name: benign vascular tumor
is_a: DOID:0060091 ! cardiovascular organ benign neoplasm

[Term]
id: DOID:60007
name: cerebrovascular benign neoplasm
def: "A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system. (DO)" [https://en.wikipedia.org/wiki/Cerebral_circulation "DO", https://www.cancer.gov/publications/dictionaries/cancer-terms/def/benign-vascular-tumor "DO"]
is_a: DOID:0060091 ! cardiovascular organ benign neoplasm
is_a: DOID:6713 ! cerebrovascular disease

[Term]
id: DOID:60008
name: parathyroid gland benign neoplasm
def: "An endocrine organ benign neoplasm that is located_in some parathyroid gland. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/parathyroid-tumor "DO"]
synonym: "parathyroid benign neoplasm" EXACT []
xref: NCI:C3630
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:9004331 ! Parathyroid Neoplasms

[Term]
id: DOID:60009
name: pituitary gland benign neoplasm
def: "A benign neoplasm located in the pituitary gland. (DO)" [https://www.mayoclinic.org/diseases-conditions/pituitary-tumors/symptoms-causes/syc-20350548 "DO"]
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:9002234 ! Pituitary Neoplasms

[Term]
id: DOID:6001
name: breast fibrosarcoma
def: "A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. (DO)" [https://en.wikipedia.org/wiki/Fibrosarcoma "DO"]
synonym: "fibrosarcoma of the breast" EXACT []
xref: NCI:C5185
is_a: DOID:3017 ! breast sarcoma
is_a: DOID:3355 ! fibrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:6003
name: aleukemic leukemia cutis
def: "An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf?dictionary=NCI_Thesaurus&version=20.02d&code=C4983&ns=ncit&type=properties&key=null&b=1&n=0&vse=null "DO"]
xref: NCI:C4983
is_a: DOID:6004 ! aleukemic leukemia
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6004
name: aleukemic leukemia
def: "A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood. (DO)" [http://www.merriam-webster.com/medical/aleukemic%20leukemia "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4982 "DO"]
synonym: "aleukemic myelosis" EXACT []
xref: NCI:C4982
is_a: DOID:1240 ! leukemia
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6015
name: adult central nervous system teratoma
synonym: "teratoma of the adult central nervous system" EXACT []
xref: NCI:C5794
xref: RDO:9004036
is_a: DOID:3640 ! central nervous system teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6016
name: adult central nervous system mature teratoma
xref: NCI:C27400
is_a: DOID:6015 ! adult central nervous system teratoma
is_a: DOID:6017 ! central nervous system mature teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6017
name: central nervous system mature teratoma
def: "A mature teratoma that is located_in the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21150046 "DO"]
synonym: "mature teratoma of the CNS" EXACT []
xref: NCI:C7013
is_a: DOID:3640 ! central nervous system teratoma
is_a: DOID:5566 ! mature teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6018
name: adult central nervous system immature teratoma
xref: NCI:C27401
is_a: DOID:6015 ! adult central nervous system teratoma
is_a: DOID:6019 ! central nervous system immature teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6019
name: central nervous system immature teratoma
def: "A malignant teratoma that is located_in the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21150046 "DO"]
synonym: "immature teratoma of the CNS" EXACT []
xref: NCI:C7014
is_a: DOID:3640 ! central nervous system teratoma
is_a: DOID:5563 ! malignant teratoma
is_a: DOID:5566 ! mature teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:602
name: cancerophobia
synonym: "cancer phobia" EXACT []
synonym: "fear of getting cancer" EXACT []
xref: EFO:1001879
xref: NCI:C35492
is_a: DOID:0060048 ! nosophobia

[Term]
id: DOID:6024
name: selective IgE deficiency disease
def: "A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24717782 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28778662 "DO"]
synonym: "Selective IgE Immunodeficiency" EXACT [NCI2004_11_17:C27143]
synonym: "Selective immunoglobulin E deficiency" EXACT [SNOMEDCT_2005_07_31:234540007]
xref: NCI:C27143
xref: RDO:9002612
is_a: DOID:11702 ! dysgammaglobulinemia
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:6025
name: selective immunoglobulin deficiency disease
def: "A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27870 "DO", https://www.ncbi.nlm.nih.gov/books/NBK507905/ "DO"]
xref: NCI:C27870
xref: RDO:9004115
is_a: DOID:2115 ! B cell deficiency
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:603
name: AIDS phobia
xref: EFO:1001873
xref: NCI:C35614
is_a: DOID:0060048 ! nosophobia

[Term]
id: DOID:6032
name: juvenile type testicular granulosa cell tumor
synonym: "juvenile granulosa cell tumor" EXACT []
synonym: "juvenile granulosa cell tumour" EXACT []
synonym: "juvenile type granulosa cell neoplasm" EXACT []
synonym: "Juvenile type granulosa cell tumor" EXACT []
synonym: "Juvenile type Granulosa cell tumour" EXACT []
synonym: "juvenile type testicular granulosa cell tumour" EXACT []
xref: NCI:C39947
xref: NCI:C4207
is_a: DOID:4757 ! testicular sex cord-stromal neoplasm
is_a: DOID:5331 ! testicular granulosa cell tumor
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6033
name: heart fibrosarcoma
synonym: "cardiac fibrosarcoma" EXACT []
synonym: "fibrosarcoma of the heart" EXACT []
xref: NCI:C5361
is_a: DOID:3355 ! fibrosarcoma
is_a: DOID:5262 ! heart sarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:6034
name: heart malignant hemangiopericytoma
def: "A heart sarcoma that is a soft tissue sarcoma located in the heart. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16434949 "DO"]
synonym: "malignant hemangiopericytoma of heart" EXACT []
xref: NCI:C5365
is_a: DOID:5262 ! heart sarcoma
is_a: DOID:9000235 ! Malignant Hemangiopericytoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6037
name: spindle cell intraocular melanoma
def: "An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page3 "DO"]
synonym: "uveal spindle cell melanoma" EXACT []
xref: NCI:C7986
is_a: DOID:1752 ! ocular melanoma
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:6039
name: uveal melanoma
alt_id: MIM:155720
alt_id: MIM:606660
alt_id: MIM:606661
def: "A uveal cancer that has_material_basis_in uvea pigment cells. (DO)" [http://cancergenome.nih.gov/cancersselected/UvealMelanoma "DO", http://en.wikipedia.org/wiki/Uveal_melanoma "DO"]
synonym: "CHOROIDAL MELANOMA" NARROW []
synonym: "melanoma of the uvea" EXACT []
synonym: "melanoma of uvea" EXACT []
synonym: "uveal melanoma, susceptibility to, 1" NARROW []
synonym: "uveal melanoma, susceptibility to, 2" NARROW []
synonym: "UVM1" NARROW []
synonym: "UVM2" NARROW []
xref: EFO:1000616
xref: HP:0012054
xref: MESH:C536494
xref: NCI:C7712
xref: ORDO:39044
is_a: DOID:1909 ! melanoma
is_a: DOID:3479 ! uveal cancer

[Term]
id: DOID:6041
name: choroid spindle cell melanoma
def: "A malignant choroid melanoma that is located_in the choroid. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/allpages/print "DO"]
synonym: "spindle cell melanoma of the choroid" EXACT []
xref: NCI:C6099
is_a: DOID:1752 ! ocular melanoma
is_a: DOID:3162 ! malignant spindle cell melanoma
is_a: DOID:6039 ! uveal melanoma
is_a: DOID:6438 ! malignant choroid melanoma
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:6043
name: ciliary body spindle cell melanoma
def: "A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968473/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/17545559/ "DO"]
synonym: "spindle cell melanoma of the Ciliary body" EXACT [NCI2004_11_17:C6117]
xref: NCI:C6117
is_a: DOID:4352 ! ciliary body cancer
is_a: DOID:7328 ! iris spindle cell melanoma

[Term]
id: DOID:6048
name: telangiectatic glomangioma
xref: NCI:C5345
xref: RDO:9004602
is_a: DOID:2435 ! skin glomangioma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:605
name: flying phobia
def: "A specific phobia that is characterized by a fear of flying. (DO)" [http://en.wikipedia.org/wiki/Fear_of_flying "DO"]
synonym: "aerophobia" EXACT []
xref: EFO:1001889
xref: ICD10CM:F40.243
xref: MESH:C000719189
xref: NCI:C35413
is_a: DOID:599 ! specific phobia

[Term]
id: DOID:6050
name: esophageal disease
def: "A gastrointestinal system disease that is located_in the esophagus. (DO)" [http://en.wikipedia.org/wiki/Esophageal_disease "DO"]
synonym: "esophageal diseases" EXACT []
synonym: "esophageal ulcer" NARROW []
xref: EFO:0009544
xref: ICD10CM:K22.9
xref: ICD9CM:530.9
xref: MESH:D004935
xref: NCI:C3027
is_a: DOID:77 ! gastrointestinal system disease

[Term]
id: DOID:6052
name: central nervous system childhood germ cell tumor
synonym: "central nervous system childhood germ cell tumour" EXACT []
synonym: "paediatric germ cell neoplasm of CNS" EXACT []
synonym: "pediatric germ cell neoplasm of CNS" EXACT []
xref: ICD-O:M9064/3
xref: MONDO:0003750
xref: NCI:C6205
is_a: DOID:4439 ! central nervous system germ cell tumor
is_a: DOID:6053 ! childhood germ cell cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:6053
name: childhood germ cell cancer
def: "A germ cell cancer that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23559398 "DO"]
synonym: "paediatric germ cell cancer" EXACT []
synonym: "paediatric germ cell neoplasm" EXACT []
synonym: "pediatric germ cell cancer" EXACT []
synonym: "pediatric germ cell neoplasm" EXACT []
synonym: "pediatric germ cell tumor" EXACT []
xref: NCI:C7928
is_a: DOID:2994 ! germ cell cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:6054
name: frontal sinus Schneiderian papilloma
synonym: "Schneiderian papilloma of the frontal sinus" EXACT []
xref: NCI:C6837
is_a: DOID:1361 ! frontal sinus benign neoplasm
is_a: DOID:2615 ! papilloma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6059
name: nasal vestibule papilloma
synonym: "papilloma of nasal vestibule" EXACT [SNOMEDCT_2005_07_31:232364006]
synonym: "squamous papilloma of the nasal Vestibule" EXACT [NCI2004_11_17:C4369]
xref: NCI:C4369
xref: RDO:9003786
is_a: DOID:0050621 ! respiratory system benign neoplasm
is_a: DOID:2615 ! papilloma
is_a: DOID:9007971 ! Nose Neoplasms
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:606
name: Brown-Sequard syndrome
def: "A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)." [MESH:D018437]
synonym: "Brown Sequard's Disease" EXACT []
synonym: "Brown Sequard's Paralysis" EXACT []
synonym: "Brown Sequard's Syndrome" EXACT []
synonym: "Brown Sequard Disease" EXACT []
synonym: "Brown-Sequard Paralysis" EXACT []
synonym: "Brown-Sequards Disease" EXACT []
synonym: "Brown-Sequards Paralysis" EXACT []
synonym: "Brown-Sequards Syndrome" EXACT []
synonym: "Brown-Squard syndrome" EXACT []
synonym: "Hemicord Syndrome" EXACT []
synonym: "hemicord syndromes" EXACT []
synonym: "Hemiparaplegic Syndrome" EXACT []
synonym: "Hemiparaplegic Syndromes" EXACT []
synonym: "Hemispinal Cord Syndrome" EXACT []
synonym: "Hemispinal Cord Syndromes" EXACT []
synonym: "spastic spinal monoplegia syndrome" EXACT []
xref: EFO:1001279
xref: GARD:5964
xref: ICD10CM:G83.81
xref: MESH:D018437
xref: NCI:C84601
is_a: DOID:225 ! syndrome
is_a: DOID:607 ! paraplegia

[Term]
id: DOID:6065
name: urinary tract non-invasive transitional cell neoplasm
xref: NCI:C39854
is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6067
name: ovarian mucinous neoplasm
def: "An ovary epithelial cancer that is characterized by the presence of mucin. (DO)" [https://en.wikipedia.org/wiki/Ovarian_mucinous_tumor "DO"]
synonym: "Borderline Ovarian Mucinous Tumor" NARROW []
synonym: "malignant ovarian mucinous neoplasm" EXACT []
synonym: "mucinous tumor of ovary" EXACT []
synonym: "ovarian mucinous tumor" EXACT []
xref: EFO:1000138
xref: NCI:C40033
xref: NCI:C5242
is_a: DOID:2152 ! ovary epithelial cancer
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:607
name: paraplegia
def: "Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness." [MESH:D010264]
synonym: "Ataxic Paraplegia" EXACT []
synonym: "ataxic paraplegias" EXACT []
synonym: "Cerebral Paraplegia" EXACT []
synonym: "Cerebral Paraplegias" EXACT []
synonym: "Flaccid Paraplegia" EXACT []
synonym: "Flaccid Paraplegias" EXACT []
synonym: "lower paraplegia" EXACT []
synonym: "Paralysis, Legs" EXACT []
synonym: "Paralysis, Lower Extremities" EXACT []
synonym: "Paralysis, Lower Limbs" EXACT []
synonym: "Paraplegias" EXACT []
synonym: "Spastic Paraplegia" EXACT []
synonym: "Spastic Paraplegias" EXACT []
synonym: "Spinal Paraplegia" EXACT []
synonym: "spinal paraplegias" EXACT []
xref: EFO:0009679
xref: GARD:7327
xref: ICD10CM:G82.2
xref: ICD9CM:344.1
xref: MESH:D010264
xref: NCI:C50687
is_a: DOID:331 ! central nervous system disease
is_a: DOID:9005246 ! Paralysis

[Term]
id: DOID:6082
name: childhood testicular germ cell tumor
synonym: "paediatric testicular germ cell neoplasm" EXACT []
synonym: "paediatric testicular germ cell tumour" EXACT []
synonym: "pediatric testicular germ cell neoplasm" EXACT []
synonym: "pediatric testicular germ cell tumor" EXACT []
xref: NCI:C6552
is_a: DOID:5557 ! testicular germ cell cancer
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6083
name: childhood ovarian endodermal sinus tumor
def: "An ovarian endodermal sinus tumor that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8649322 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9949591 "DO"]
synonym: "childhood ovarian endodermal sinus neoplasm" EXACT []
synonym: "childhood ovarian endodermal sinus tumour" EXACT []
synonym: "childhood ovarian yolk sac tumor" EXACT []
synonym: "childhood ovarian yolk sac tumour" EXACT []
synonym: "paediatric Ovarian Yolk Sac tumour" EXACT []
synonym: "pediatric ovarian yolk sac tumor" EXACT []
xref: ICD-O:M9071/3
xref: NCI:C6551
xref: RDO:9005069
is_a: DOID:5350 ! ovarian endodermal sinus tumor
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:6084
name: childhood ovarian germ cell tumor
def: "An ovarian germ cell cancer that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24395845 "DO"]
synonym: "paediatric ovarian germ cell neoplasm" EXACT []
synonym: "paediatric ovarian germ cell tumour" EXACT []
synonym: "pediatric ovarian germ cell neoplasm" EXACT []
synonym: "pediatric ovarian germ cell tumor" EXACT []
xref: NCI:C8588
is_a: DOID:2156 ! ovarian germ cell cancer
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:6085
name: meningeal melanoma
synonym: "melanoma of the leptomeninges" EXACT []
xref: ICDO:8720/3
xref: NCI:C5317
is_a: DOID:6086 ! malignant leptomeningeal neoplasm
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:6086
name: malignant leptomeningeal neoplasm
synonym: "leptomeningeal cancer" EXACT []
synonym: "malignant leptomeningeal tumor" EXACT []
synonym: "malignant leptomeningeal tumour" EXACT []
synonym: "malignant tumor of leptomeninges" EXACT []
synonym: "malignant tumour of leptomeninges" EXACT []
xref: NCI:C8506
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:6088
name: acute stress disorder
def: "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. (DO)" [http://ptsd.about.com/od/causesanddevelopment/a/acutestress.htm "DO"]
synonym: "acute stress reaction" EXACT []
synonym: "traumatic stress disorder" EXACT []
synonym: "traumatic stress disorders" EXACT []
xref: EFO:0005223
xref: ICD9CM:308.3
xref: MESH:D040921
is_a: DOID:2030 ! anxiety disorder
is_a: DOID:9004763 ! Trauma and Stressor Related Disorders

[Term]
id: DOID:6089
name: childhood leptomeningeal melanoma
synonym: "pediatric leptomeningeal melanoma" EXACT []
xref: ICD-O:M8720/3
xref: NCI:C5318
is_a: DOID:6085 ! meningeal melanoma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:6090
name: adult leptomeningeal melanoma
synonym: "melanoma of adult Leptomeninges" EXACT [NCI2004_11_17:C5319]
xref: NCI:C5319
xref: RDO:9004628
is_a: DOID:6085 ! meningeal melanoma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:6098
name: thalamic neoplasm
synonym: "malignant neoplasm of thalamus" EXACT []
synonym: "malignant tumor of thalamus" EXACT []
synonym: "tumor of thalamus" EXACT []
xref: NCI:C4576
xref: NCI:C6221
is_a: DOID:3843 ! diencephalic neoplasm
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:61
name: mitral valve disease
synonym: "chronic rheumatic mitral valve" EXACT []
synonym: "disease of mitral valve" EXACT []
synonym: "Mitral RH valve dis." EXACT []
synonym: "rheumatic disease of mitral valve" EXACT []
synonym: "Rheumatic mitral insufficiency" EXACT []
synonym: "rheumatic mitral valve changes" EXACT []
synonym: "rheumatic mitral valve incompetence" EXACT []
synonym: "rheumatic mitral valve regurgitation" EXACT []
xref: EFO:0009557
xref: ICD10CM:I05
xref: ICD10CM:I05.1
xref: ICD9CM:394
xref: ICD9CM:394.1
xref: ICD9CM:424.0
xref: NCI:C78446
is_a: DOID:4079 ! heart valve disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:6101
name: signet ring cell variant cervical mucinous adenocarcinoma
def: "A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802128/ "DO"]
xref: NCI:C40205
is_a: DOID:3701 ! cervical mucinous adenocarcinoma

[Term]
id: DOID:6102
name: herpetic gastritis
def: "A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1063088 "DO"]
xref: NCI:C27341
is_a: DOID:2327 ! viral gastritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:6103
name: thoracic spinal canal and spinal cord meningioma
synonym: "meningioma of the thoracic spinal canal and spinal cord" EXACT []
xref: NCI:C5297
is_a: DOID:1140 ! spinal canal and spinal cord meningioma

[Term]
id: DOID:6110
name: jugular foramen meningioma
synonym: "meningioma of the jugular foramen" EXACT []
xref: NCI:C5293
xref: RDO:9004629
is_a: DOID:4437 ! skull base meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:6112
name: cerebral meningioma
synonym: "meningioma of cerebrum" EXACT []
xref: NCI:C4807
is_a: DOID:0060106 ! brain meningioma
is_a: DOID:368 ! cerebrum cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:6113
name: intracerebral cystic meningioma
xref: NCI:C5269
is_a: DOID:6112 ! cerebral meningioma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6114
name: cerebral convexity meningioma
synonym: "cerebral hemispheric convexity meningioma" EXACT []
xref: NCI:C4959
xref: RDO:9004707
is_a: DOID:6112 ! cerebral meningioma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6115
name: lateral ventricle meningioma
synonym: "meningioma of the lateral ventricle" EXACT []
xref: NCI:C5302
is_a: DOID:3772 ! intraventricular meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:6118
name: renal pelvis inverted papilloma
synonym: "Inverted papilloma of the kidney Pelvis" EXACT [NCI2004_11_17:C6187]
xref: NCI:C6187
xref: RDO:9004448
is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm
is_a: DOID:6119 ! renal pelvis urothelial papilloma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6119
name: renal pelvis urothelial papilloma
xref: NCI:C4528
xref: RDO:9004447
is_a: DOID:5975 ! renal pelvis papillary tumor
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:612
name: primary immunodeficiency disease
alt_id: MESH:D007153
alt_id: MIM:242850
def: "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. (DO)" [http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases "DO"]
synonym: "antibody deficiency syndrome" EXACT []
synonym: "antibody deficiency syndromes" EXACT []
synonym: "hypoimmunity" EXACT []
synonym: "immune deficiency disorder" EXACT []
synonym: "immunodeficiency syndrome" EXACT []
synonym: "immunological deficiency syndrome" EXACT []
synonym: "immunological deficiency syndromes" EXACT []
synonym: "immunologic deficiency syndrome" EXACT []
synonym: "immunologic deficiency syndromes" EXACT []
synonym: "inherited immunodeficiency diseases" EXACT []
synonym: "PRIMARY IMMUNE DEFICIENCY" EXACT []
synonym: "primary immunodeficiency diseases" EXACT []
synonym: "primary immunodeficiency disorder" EXACT []
xref: ICD10CM:D84.9
xref: ICD9CM:279.3
xref: MESH:D000081207
xref: MIM:PS300755
xref: NCI:C3131
xref: NCI:C39725
is_a: DOID:225 ! syndrome
is_a: DOID:2914 ! immune system disease

[Term]
id: DOID:6126
name: anal canal carcinoma
alt_id: MIM:105580
def: "An anal canal cancer that derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO", http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp "DO"]
synonym: "anal canal and perianal gland carcinoma" EXACT []
synonym: "carcinoma of anal canal" EXACT []
xref: MESH:C563020
xref: NCI:C7489
is_a: DOID:0050688 ! anal canal cancer
is_a: DOID:4908 ! anal carcinoma

[Term]
id: DOID:6128
name: gliomatosis cerebri
def: "A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells. (DO)" [https://en.wikipedia.org/wiki/Gliomatosis_cerebri "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5545748/ "DO"]
synonym: "astrocytosis cerebri" EXACT []
xref: GARD:6514
xref: ICDO:9381/3
xref: NCI:C4318
is_a: DOID:1319 ! brain cancer

[Term]
id: DOID:6132
name: bronchitis
def: "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. (DO)" [http://www.nhlbi.nih.gov/health/dci/Diseases/brnchi/brnchi_whatis.html "DO", http://www.nlm.nih.gov/medlineplus/bronchitis.html "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchitis "DO"]
synonym: "acute bronchitis" EXACT []
synonym: "acute bronchitis and bronchiolitis" RELATED []
synonym: "Bronchitides" EXACT []
synonym: "chest cold" EXACT []
synonym: "chest infection" EXACT []
synonym: "chronic bronchitis" EXACT []
synonym: "CI - chest infection" EXACT []
synonym: "RECURRENT BRONCHITIS" NARROW []
synonym: "recurrent wheezy bronchitis" EXACT []
xref: EFO:0009661
xref: ICD10CM:J20
xref: ICD10CM:J40
xref: ICD10CM:J42
xref: ICD9CM:466.0
xref: ICD9CM:490
xref: ICD9CM:491
xref: MESH:D001991
xref: NCI:C26722
xref: NCI:C26932
xref: NCI:C2911
is_a: DOID:1176 ! bronchial disease
is_a: DOID:2320 ! obstructive lung disease
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:6139
name: uterine corpus epithelioid leiomyosarcoma
def: "A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339182/ "DO"]
xref: NCI:C40174
xref: RDO:9005037
is_a: DOID:5264 ! epithelioid leiomyosarcoma
is_a: DOID:5289 ! uterus leiomyosarcoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:614
name: lymphopenia
def: "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. (DO)" [http://en.wikipedia.org/wiki/Lymphopenia "DO"]
synonym: "lymphocytopenia" EXACT []
synonym: "lymphocytopenias" EXACT []
synonym: "lymphopenias" EXACT []
xref: ICD10CM:D72.810
xref: ICD9CM:288.51
xref: MESH:D008231
xref: MONDO:0003783
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:615 ! leukopenia

[Term]
id: DOID:6148
name: nasal cavity carcinoma in situ
def: "An in situ carcinoma that is located_in the nasal cavity. (DO)" [http://www.cancerresearchuk.org/about-cancer/nasal-sinus-cancer/stages-grades/nasal-cavity-number-stages "DO"]
synonym: "carcinoma in situ of nasal cavities" EXACT []
synonym: "carcinoma in situ of nasal cavity" EXACT []
synonym: "stage 0 carcinoma of the nasal cavity" EXACT []
xref: ICD10CM:D02.3
is_a: DOID:4931 ! nasal cavity carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:615
name: leukopenia
def: "A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. (DO)" [http://en.wikipedia.org/wiki/Leukopenia "DO"]
synonym: "leucopenia" EXACT []
synonym: "leukocytopenia" EXACT []
synonym: "leukocytopenias" EXACT []
synonym: "leukopenias" EXACT []
xref: EFO:0004233
xref: ICD10CM:D72.819
xref: ICD9CM:288.50
xref: MESH:D007970
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:6160
name: childhood choriocarcinoma of the testis
def: "A choriocarcinoma of the testis that is present during childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204242/ "DO"]
synonym: "pediatric testicular choriocarcinoma" EXACT []
xref: NCI:C6544
is_a: DOID:5551 ! choriocarcinoma of the testis
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:6161
name: childhood testicular mixed germ cell tumor
synonym: "childhood testicular mixed germ cell tumour" EXACT []
synonym: "paediatric testicular mixed germ cell tumour" EXACT []
synonym: "pediatric testicular mixed germ cell tumor" EXACT []
xref: NCI:C6542
is_a: DOID:4743 ! mixed testicular germ cell tumor

[Term]
id: DOID:6162
name: childhood embryonal testis carcinoma
def: "An embryonal testis carcinoma that occurs in children. (DO)" [http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma "DO"]
synonym: "childhood embryonal carcinoma of the testis" RELATED []
synonym: "pediatric testicular Embryonal carcinoma" EXACT []
xref: ICD-O:M9070/3
xref: NCI:C6545
xref: RDO:9003728
is_a: DOID:5680 ! embryonal testis carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6163
name: familial renal papillary carcinoma
synonym: "hereditary papillary renal carcinoma" EXACT []
xref: NCI:C9222
is_a: DOID:3113 ! papillary carcinoma
is_a: DOID:4455 ! hereditary renal cell carcinoma

[Term]
id: DOID:6166
name: prostatic urethra urothelial carcinoma
def: "An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra. (NCI)" []
xref: NCI:C39900
is_a: DOID:6167 ! prostatic urethral cancer

[Term]
id: DOID:6167
name: prostatic urethral cancer
xref: NCI:C39870
is_a: DOID:736 ! male urethral cancer

[Term]
id: DOID:6170
name: ovarian carcinosarcoma
def: "A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938474/ "DO"]
synonym: "malignant mixed Müllerian tumor of the ovary" EXACT []
synonym: "ovarian malignant mesodermal (mullerian) mixed tumor" EXACT []
synonym: "ovarian malignant mixed epithelial mesenchymal tumor" EXACT []
synonym: "ovarian malignant mixed Mullerian tumor" EXACT []
synonym: "ovarian malignant mixed Müllerian tumor" EXACT []
synonym: "ovarian MMMT" EXACT []
xref: EFO:1000412
xref: GARD:7296
xref: NCI:C9192
xref: ORDO:213512
is_a: DOID:2151 ! malignant ovarian surface epithelial-stromal neoplasm
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:6171
name: uterine carcinosarcoma
def: "A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma. (DO)" [http://cancergenome.nih.gov/cancersselected/UterineCarcinosarcoma "DO", http://en.wikipedia.org/wiki/Carcinosarcoma "DO"]
synonym: "Carcinosarcoma of uterus" EXACT []
synonym: "malignant mixed mesodermal (Mullerian) tumor" EXACT []
synonym: "malignant mixed Mullerian tumor" EXACT []
synonym: "Malignant mixed Mullerian tumour of uterus" EXACT []
synonym: "mixed mesodermal (Mullerian) tumor" EXACT []
synonym: "mixed mullerian sarcoma of uterus" EXACT []
synonym: "MMMT" EXACT []
synonym: "Mullerian mixed tumor" EXACT []
xref: EFO:1000613
xref: GARD:12335
xref: MESH:D018200
xref: NCI:C42700
xref: ORDO:213610
is_a: DOID:4114 ! uterine body mixed cancer
is_a: DOID:4236 ! carcinosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:6175
name: mediastinal neurilemmoma
alt_id: DOID:7922
def: "A neurilemmoma located_in the mediastinum. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25992358 "DO"]
synonym: "benign mediastinal neurilemmoma" EXACT []
synonym: "benign schwannoma of mediastinum" EXACT []
synonym: "schwannoma of mediastinum" EXACT []
xref: NCI:C6625
xref: NCI:C6643
is_a: DOID:3192 ! neurilemmoma
is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm
is_a: DOID:956 ! peripheral nerve schwannoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6179
name: ovarian small cell carcinoma
def: "An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3858994/ "DO"]
synonym: "small cell carcinoma of the ovary, hypercalcemic type" RELATED []
xref: EFO:1000431
xref: GARD:10411
xref: NCI:C27390
is_a: DOID:4001 ! ovarian carcinoma

[Term]
id: DOID:6190
name: rectum Kaposi's sarcoma
def: "A sarcoma of the rectum that results_in lesions that are located_in the rectum. (DO)" [http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp "DO"]
synonym: "Kaposi's sarcoma of rectum" EXACT []
synonym: "rectum Kaposi sarcoma" EXACT []
xref: NCI:C5550
is_a: DOID:1995 ! rectum sarcoma
is_a: DOID:8632 ! Kaposi's sarcoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6192
name: malignant inflammatory fibrous histiocytoma
synonym: "inflammatory MFH" EXACT []
synonym: "xanthosarcoma" EXACT []
xref: EFO:1000608
xref: NCI:C6497
is_a: DOID:1907 ! malignant fibrous histiocytoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:6193
name: epithelioid sarcoma
def: "A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue. (DO)" [https://en.wikipedia.org/wiki/Epithelioid_sarcoma "DO", https://www.mayoclinic.org/diseases-conditions/epithelioid-sarcoma/cdc-20392420 "DO"]
synonym: "epithelioid cell sarcoma" EXACT []
synonym: "epithelioid sarcomas" EXACT []
xref: GARD:10181
xref: ICDO:8804/3
xref: NCI:C3714
is_a: DOID:1115 ! sarcoma
is_a: DOID:201 ! connective tissue cancer
is_a: DOID:3350 ! mesenchymal cell neoplasm
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6195
name: conjunctivitis
def: "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. (DO)" [http://en.wikipedia.org/wiki/Conjunctivitis "DO"]
synonym: "conjunctivitides" EXACT []
synonym: "Madras eye" RELATED []
xref: EFO:0009450
xref: ICD10CM:H10
xref: ICD9CM:372.30
xref: MESH:D003231
xref: NCI:C34504
is_a: DOID:4251 ! conjunctival disease

[Term]
id: DOID:6196
name: reactive arthritis
def: "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body. (DO)" [http://en.wikipedia.org/wiki/Reactive_arthritis "DO", http://www.about-reactive-arthritis.com/ "DO", http://www.mayoclinic.com/health/reactive-arthritis/DS00486/DSECTION=causes "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000440.htm "DO"]
synonym: "Fiessinger Leroy Reiter syndrome" EXACT []
synonym: "post-bacterial arthropathy" EXACT []
synonym: "postdysenteric arthropathy" EXACT []
synonym: "Post-Infectious Arthritides" EXACT []
synonym: "Postinfectious Arthritides" EXACT []
synonym: "Post Infectious Arthritis" EXACT []
synonym: "Postinfectious Arthritis" EXACT []
synonym: "Reactive Arthritides" EXACT []
synonym: "Reiter's Disease" EXACT []
synonym: "Reiter Disease" EXACT []
synonym: "Reiters Disease" EXACT []
synonym: "Reiter Syndrome" EXACT []
xref: EFO:0007460
xref: GARD:5693
xref: ICD10CM:M02.10
xref: ICD10CM:M02.3
xref: ICD9CM:099.3
xref: ICD9CM:711.30
xref: MESH:D016918
xref: NCI:C34975
is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system
is_a: DOID:1123 ! spondyloarthropathy
is_a: DOID:813 ! septic arthritis

[Term]
id: DOID:6197
name: conventional malignant hemangiopericytoma
xref: NCI:C9425
is_a: DOID:9000235 ! Malignant Hemangiopericytoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6198
name: corneal intraepithelial neoplasm
xref: NCI:C6093
is_a: DOID:10124 ! corneal disease
is_a: DOID:5465 ! conjunctival intraepithelial neoplasm
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6199
name: cornea cancer
synonym: "corneal tumor" EXACT []
synonym: "malignant corneal tumor" EXACT []
synonym: "malignant neoplasm of cornea" EXACT []
synonym: "malignant tumor of cornea" EXACT []
synonym: "neoplasm of cornea" EXACT []
xref: ICD10CM:C69.1
xref: ICD9CM:190.4
xref: NCI:C3565
xref: NCI:C4361
is_a: DOID:10124 ! corneal disease
is_a: DOID:2174 ! ocular cancer

[Term]
id: DOID:62
name: aortic valve disease
def: "A heart valve disease that is located_in the aortic valve. (DO)" [https://www.mayoclinic.org/diseases-conditions/aortic-valve-disease/symptoms-causes/syc-20355117 "DO"]
synonym: "aortic heart disease" EXACT []
synonym: "aortic valve disorder" EXACT []
synonym: "aortic valvular heart disease" EXACT []
synonym: "aortic valvular heart disorder" EXACT []
xref: EFO:0009531
xref: ICD9CM:424.1
xref: MESH:D000082862
xref: NCI:C78650
is_a: DOID:4079 ! heart valve disease
is_a: DOID:520 ! aortic disease

[Term]
id: DOID:620
name: blood protein disease
def: "Hematologic diseases caused by structural or functional defects of BLOOD PROTEINS." [MESH:D001796]
synonym: "blood protein disorder" EXACT []
synonym: "blood protein disorders" EXACT []
xref: MESH:D001796
is_a: DOID:74 ! hematopoietic system disease

[Term]
id: DOID:6201
name: pericardial mesothelioma
synonym: "malignant mesothelioma of pericardium" EXACT [SNOMEDCT_2005_07_31:187885008]
synonym: "malignant Pericardial Mesothelioma" EXACT [NCI2004_11_17:C7631]
xref: ICD10CM:C45.2
xref: NCI:C7631
xref: NCI:C7632
xref: NCI:C8703
xref: RDO:9002748
is_a: DOID:116 ! pericardium cancer
is_a: DOID:1790 ! malignant mesothelioma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:6203
name: thyroid hyalinizing trabecular adenoma
synonym: "PLAT" EXACT []
xref: EFO:1000588
xref: NCI:C6846
is_a: DOID:6204 ! follicular adenoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6204
name: follicular adenoma
synonym: "follicular adenoma of the thyroid gland" EXACT []
synonym: "follicular adenomas" EXACT []
synonym: "follicular thyroid adenoma" EXACT []
synonym: "thyroid gland follicular adenoma" EXACT []
xref: EFO:0000499
xref: ICDO:8330/0
is_a: DOID:2891 ! thyroid adenoma

[Term]
id: DOID:6208
name: mediastinal osteogenic sarcoma
synonym: "osteosarcoma of mediastinum" EXACT []
xref: NCI:C6615
is_a: DOID:3357 ! extraosseous osteosarcoma
is_a: DOID:4050 ! mediastinum sarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:6209
name: malignant mediastinum hemangiopericytoma
def: "A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7967247/ "DO"]
synonym: "malignant hemangiopericytoma of mediastinum" EXACT []
xref: NCI:C6608
is_a: DOID:4050 ! mediastinum sarcoma
is_a: DOID:9000235 ! Malignant Hemangiopericytoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6210
name: bladder diffuse clear cell adenocarcinoma
xref: NCI:C39849
is_a: DOID:5306 ! bladder clear cell adenocarcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6211
name: mixed epithelial tumor of ovary
def: "An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957347/ "DO"]
synonym: "mixed epithelial tumour of ovary" EXACT []
synonym: "Ovarian mixed epithelial tumor" EXACT [NCI2004_11_17:C4508]
synonym: "Ovarian mixed epithelial tumour" EXACT []
xref: EFO:1000114
xref: EFO:1000425
xref: NCI:C4508
is_a: DOID:0060112 ! ovarian benign neoplasm

[Term]
id: DOID:6212
name: ovarian endometrial cancer
def: "An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary. (DO)" [http://en.wikipedia.org/wiki/Endometrial_cancer "DO"]
synonym: "endometrioid neoplasm of ovary" EXACT []
synonym: "malignant ovarian endometrioid tumor" EXACT []
synonym: "ovarian endometrioid neoplasm" EXACT []
xref: NCI:C40051
xref: NCI:C6257
xref: RDO:9001895
is_a: DOID:2152 ! ovary epithelial cancer
is_a: DOID:3001 ! female reproductive endometrioid cancer
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:6214
name: ovarian papillary neoplasm
def: "An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology. (DO)" [https://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171 "DO"]
synonym: "ovarian papillary tumor" EXACT []
synonym: "ovarian papillary tumour" EXACT []
synonym: "papillary tumor of ovary" EXACT []
xref: NCI:C8430
is_a: DOID:2152 ! ovary epithelial cancer
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:6217
name: gastric diffuse adenocarcinoma
def: "A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9159 "DO"]
synonym: "adenocarcinoma of linitis plastica type" EXACT []
synonym: "diffuse type adenocarcinoma" EXACT []
synonym: "diffuse type carcinoma" EXACT []
xref: EFO:0000402
xref: NCI:C4127
xref: NCI:C9159
is_a: DOID:3717 ! gastric adenocarcinoma
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:6225
name: Cronkhite-Canada syndrome
alt_id: MIM:175500
def: "A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21881972/ "DO"]
synonym: "gastric Cronkhite Canada polyposis" EXACT []
synonym: "Gastrointestinal Polyposis" EXACT []
synonym: "Intestinal Polyposis" EXACT []
synonym: "polyposis, skin pigmentation, alopecia, and fingernail changes" EXACT []
xref: MESH:D044483
xref: NCI:C7035
is_a: DOID:5295 ! intestinal disease
is_a: DOID:76 ! stomach disease

[Term]
id: DOID:6227
name: articular cartilage disease
def: "A cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones. (DO)" [https://medlineplus.gov/cartilagedisorders.html "DO"]
xref: ICD9CM:718.0
is_a: DOID:1222 ! cartilage disease
is_a: DOID:381 ! arthropathy
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:6228
name: peritoneal serous papillary adenocarcinoma
synonym: "primary serous papillary carcinoma of peritoneum" EXACT []
xref: NCI:C7695
is_a: DOID:3112 ! papillary adenocarcinoma
is_a: DOID:4901 ! peritoneal serous adenocarcinoma

[Term]
id: DOID:6229
name: childhood mature teratoma of the ovary
def: "A mature teratoma of the ovary that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30165903 "DO"]
synonym: "pediatric mature teratoma of ovary" EXACT []
xref: NCI:C6548
is_a: DOID:6231 ! mature teratoma of the ovary
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6230
name: childhood teratoma of the ovary
def: "An ovarian germ cell teratoma that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/682093 "DO"]
synonym: "pediatric teratoma of Ovary" EXACT []
xref: NCI:C6554
is_a: DOID:5567 ! ovarian germ cell teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6231
name: mature teratoma of the ovary
def: "An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20212374 "DO"]
synonym: "mature teratoma of ovary" EXACT []
xref: NCI:C8112
is_a: DOID:5566 ! mature teratoma
is_a: DOID:6232 ! ovarian biphasic or triphasic teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6232
name: ovarian biphasic or triphasic teratoma
def: "An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. (DO)" [https://www.tandfonline.com/doi/abs/10.1586/eog.10.80 "DO"]
xref: NCI:C39992
xref: RDO:9004029
is_a: DOID:5567 ! ovarian germ cell teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6239
name: non-invasive bladder papillary urothelial neoplasm
synonym: "bladder papillary neoplasm of low malignant potential" EXACT []
synonym: "bladder PUNLMP" EXACT [NCI2004_11_17:C27884]
synonym: "Papillary urothelial neoplasm of low malignant potential" EXACT [SNOMEDCT_2005_07_31:128625004]
xref: NCI:C27884
xref: NCI:C39831
xref: RDO:9004449
is_a: DOID:5432 ! bladder papillary transitional cell neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:624
name: transient hypogammaglobulinemia of infancy
xref: ICD10CM:D80.7
xref: NCI:C27071
is_a: DOID:625 ! transient hypogammaglobulinemia
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:6244
name: familial renal oncocytoma
xref: NCI:C8960
is_a: DOID:6245 ! renal oncocytoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6245
name: renal oncocytoma
alt_id: MIM:553000
def: "Benign oxyphilic adenomas which occur in the kidney. They consist mostly of abnormal epithelial cells that are larger than renal carcinoma cells. [MESH]" []
synonym: "kidney oncocytoma" EXACT []
synonym: "oncocytoma of kidney" EXACT []
synonym: "renal epithelial Oncocytic tumor" EXACT []
xref: EFO:1000315
xref: GARD:8477
xref: MESH:C537750
xref: MONDO:0003825
xref: NCI:C4526
is_a: DOID:3116 ! kidney benign neoplasm
is_a: DOID:5389 ! oxyphilic adenoma

[Term]
id: DOID:6249
name: mediastinum seminoma
synonym: "seminoma of mediastinum" EXACT []
xref: NCI:C6812
is_a: DOID:4440 ! seminoma
is_a: DOID:5559 ! mediastinal cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:625
name: transient hypogammaglobulinemia
xref: NCI:C27319
xref: RDO:9002595
is_a: DOID:2583 ! agammaglobulinemia
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:6255
name: growth hormone secreting pituitary adenoma
def: "A pituitary tumor that secretes GROWTH HORMONE. In humans, excess HUMAN GROWTH HORMONE leads to ACROMEGALY." [MESH:D049912]
synonym: "acromegaly due to pituitary adenoma" EXACT []
synonym: "ACROMEGALY DUE TO PITUITARY ADENOMA 1" EXACT []
synonym: "familial somatotrophinoma" EXACT []
synonym: "FIPA" NARROW []
synonym: "FIS" EXACT []
synonym: "GH Secreting Pituitary Adenoma" EXACT []
synonym: "GH-Secreting Pituitary Adenomas" EXACT []
synonym: "growth hormone producing adenoma of the pituitary" EXACT []
synonym: "growth hormone secreting adenoma of pituitary" EXACT []
synonym: "IFS" EXACT []
synonym: "Isolated Familial Somatotropinoma" EXACT []
synonym: "PAGH1 PITUITARY ADENOMA PREDISPOSITION" NARROW []
synonym: "PAP" NARROW []
synonym: "PITUITARY ADENOMA, FAMILIAL ISOLATED" NARROW []
synonym: "Somatotroph Adenoma" EXACT []
synonym: "Somatotroph Adenomas" EXACT []
xref: EFO:0004125
xref: EFO:1000287
xref: MESH:D049912
xref: NCI:C7461
is_a: DOID:5395 ! functioning pituitary adenoma

[Term]
id: DOID:6256
name: malignant growth hormone secreting neoplasm of pituitary
synonym: "malignant somatotropinoma" EXACT []
xref: NCI:C5963
is_a: DOID:5716 ! hormone producing pituitary cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:6257
name: chromophil adenoma of the kidney
synonym: "Papillary adenoma of the kidney" EXACT [NCI2004_11_17:C3687]
xref: NCI:C3687
is_a: DOID:2697 ! renal adenoma

[Term]
id: DOID:6258
name: type 1 papillary adenoma of the kidney
xref: NCI:C39809
is_a: DOID:6257 ! chromophil adenoma of the kidney

[Term]
id: DOID:6259
name: type 2 papillary adenoma of the kidney
xref: NCI:C39810
is_a: DOID:6257 ! chromophil adenoma of the kidney

[Term]
id: DOID:626
name: complement deficiency
def: "A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. (DO)" [http://en.wikipedia.org/wiki/Complement_deficiency "DO"]
synonym: "complement deficiency disease" EXACT []
synonym: "hereditary complement deficiency disease" EXACT []
synonym: "hereditary complement deficiency diseases" EXACT []
synonym: "immunodeficiency due to a late component of complement deficiency" NARROW []
synonym: "inherited complement deficiency disease" EXACT []
synonym: "inherited complement deficiency diseases" EXACT []
xref: MESH:D000081208
xref: NCI:C4691
is_a: DOID:612 ! primary immunodeficiency disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:6262
name: follicular dendritic cell sarcoma
alt_id: DOID:7849
alt_id: RDO:0007686
def: "A dendritic cell sarcoma cancer that effects the follicular dendritic cells. (DO)" [http://en.wikipedia.org/wiki/Follicular_dendritic_cell_sarcoma "DO"]
synonym: "EBV-POSITIVE INFLAMMATORY FOLLICULAR DENDRITIC CELL SARCOMA" NARROW []
synonym: "follicular dendritic cell tumour" EXACT []
xref: EFO:0007276
xref: ICDO:9758/3
xref: MESH:D054740
xref: NCI:C9281
is_a: DOID:2570 ! malignant histiocytic disease
is_a: DOID:7849 ! dendritic cell sarcoma

[Term]
id: DOID:6263
name: inflammatory breast carcinoma
def: "A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852616/ "DO"]
synonym: "inflammatory breast carcinomas" EXACT []
synonym: "Inflammatory carcinoma of breast" EXACT [SNOMEDCT_2005_07_31:254840009]
synonym: "Mastitis carcinomatosa" EXACT [NCI2004_11_17:C4001]
xref: EFO:1000984
xref: NCI:C4001
is_a: DOID:3458 ! breast adenocarcinoma
is_a: DOID:9006684 ! Inflammatory Breast Neoplasms

[Term]
id: DOID:627
name: severe combined immunodeficiency
alt_id: OMIA:000220
def: "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems. (DO)" [http://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency "DO", http://www.scid.net/ "DO", https://www.genome.gov/Genetic-Disorders/Severe-Combined-Immunodeficiency "DO"]
synonym: "Bare Lymphocyte Syndrome" EXACT []
synonym: "bare lymphocyte syndromes" EXACT []
synonym: "combined T and B cell inborn immunodeficiency" EXACT []
synonym: "familial reticuloendothelioses" EXACT []
synonym: "Familial Reticuloendotheliosis" EXACT []
synonym: "SCID" EXACT []
synonym: "Severe Combined Immune Deficiency" EXACT []
synonym: "Severe Combined Immunodeficiencies" EXACT []
synonym: "severe combined immunodeficiency disease" EXACT []
synonym: "Severe combined immunodeficiency disease, autosomal" NARROW []
synonym: "severe combined immunodeficiency syndrome" EXACT []
synonym: "severe combined immunologic deficiency" EXACT []
xref: GARD:7628
xref: MESH:D016511
xref: MIM:PS601457
xref: NCI:C3472
is_a: DOID:0111962 ! combined immunodeficiency
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders

[Term]
id: DOID:6270
name: gastric cardia carcinoma
synonym: "carcinoma of cardia of stomach" EXACT []
xref: EFO:1001252
xref: NCI:C6794
is_a: DOID:10548 ! cardia cancer
is_a: DOID:5517 ! stomach carcinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:6271
name: gastric cardia adenocarcinoma
synonym: "adenocarcinoma of Cardia of stomach" EXACT []
synonym: "adenocarcinoma of gastric cardia" EXACT []
xref: NCI:C5247
xref: RDO:9001923
is_a: DOID:3717 ! gastric adenocarcinoma
is_a: DOID:6270 ! gastric cardia carcinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:6274
name: malignant thyroid stimulating hormone producing neoplasm of pituitary gland
synonym: "malignant thyrotropinoma" EXACT []
xref: NCI:C5965
is_a: DOID:5716 ! hormone producing pituitary cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:6275
name: TSH producing pituitary tumor
synonym: "thyrotroph adenoma" EXACT []
synonym: "TSH producing pituitary tumour" EXACT []
synonym: "TSH secreting adenoma of the pituitary" EXACT []
synonym: "TSH secreting tumor of pituitary" EXACT []
synonym: "TSH Secreting tumour of Pituitary" EXACT []
xref: NCI:C7915
is_a: DOID:5395 ! functioning pituitary adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:6276
name: malignant ACTH producing neoplasm of pituitary gland
synonym: "ACTH-producing pituitary gland carcinoma" EXACT []
synonym: "malignant corticotropinoma of the pituitary" EXACT []
xref: EFO:1000067
xref: NCI:C5964
is_a: DOID:5716 ! hormone producing pituitary cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:6278
name: ovarian mucinous malignant adenofibroma
def: "An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23297622 "DO"]
synonym: "ovarian mucinous adenocarcinofibroma" EXACT []
xref: NCI:C40034
is_a: DOID:4422 ! malignant adenofibroma
is_a: DOID:6067 ! ovarian mucinous neoplasm
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:628
name: combined T cell and B cell immunodeficiency
alt_id: MIM:312863
alt_id: OMIA:000899
def: "A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. (DO)" [http://en.wikipedia.org/wiki/Combined_immunodeficiencies "DO", http://rarediseases.info.nih.gov/gard/7628/severe-combined-immunodeficiency/resources/1 "DO", https://link.springer.com/chapter/10.1007/978-3-662-52909-6_2 "DO"]
synonym: "CIDX" EXACT []
synonym: "Combined immunodeficiency, X-linked, moderate" NARROW []
synonym: "COMBINED T AND B CELL IMMUNODEFICIENCY" EXACT []
synonym: "congenital combined immunodeficiency" EXACT []
synonym: "IMD6" EXACT []
synonym: "immunodeficiency 6" EXACT []
synonym: "XCID" EXACT []
synonym: "X-linked combined immunodeficiencies" EXACT []
synonym: "X-linked combined immunodeficiency" EXACT []
synonym: "X-Linked Combined Immunodeficiency Diseases" EXACT []
synonym: "X-linked immunodeficiency disease" EXACT []
synonym: "X-linked immunodeficiency diseases" EXACT []
synonym: "X-linked immunodeficiency syndrome" EXACT []
synonym: "X-linked immunodeficiency syndromes" EXACT []
xref: ICD10CM:D81
xref: ICD9CM:279.2
xref: MESH:D053632
xref: NCI:C27871
xref: ORDO:101972
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0111962 ! combined immunodeficiency

[Term]
id: DOID:6284
name: epicardium lipoma
def: "A heart lipoma that is located_in the epicardium and derives_from fat cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23438624 "DO"]
synonym: "lipoma of epicardium" EXACT []
xref: NCI:C6742
is_a: DOID:6285 ! heart lipoma
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:6285
name: heart lipoma
synonym: "lipoma of heart" EXACT []
xref: NCI:C6741
is_a: DOID:0060091 ! cardiovascular organ benign neoplasm
is_a: DOID:114 ! heart disease
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:6286
name: childhood cerebellar astrocytic neoplasm
synonym: "pediatric astrocytoma of cerebellum" EXACT []
xref: NCI:C6286
is_a: DOID:3079 ! childhood astrocytic tumor
is_a: DOID:4848 ! cerebellar astrocytoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6291
name: cerebral hemisphere lipoma
synonym: "Lipoma of the Cerebral Hemisphere" EXACT [NCI2004_11_17:C6220]
xref: NCI:C6220
xref: RDO:9004700
is_a: DOID:368 ! cerebrum cancer
is_a: DOID:6293 ! central nervous system lipoma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:6293
name: central nervous system lipoma
def: "A central nervous system benign neoplasm that derives_from fat cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12597248 "DO"]
synonym: "lipoma of the CNS" EXACT []
xref: NCI:C5451
xref: RDO:9004396
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6294
name: corpus callosum lipoma
synonym: "LIPOMA OF CORPUS CALLOSUM" EXACT []
synonym: "lipoma of the corpus callosum" EXACT []
xref: NCI:C5438
xref: RDO:9004701
is_a: DOID:6291 ! cerebral hemisphere lipoma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:6297
name: viral esophagitis
xref: NCI:C27108
is_a: DOID:11963 ! esophagitis
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:630
name: genetic disease
def: "A disease that has_material_basis_in genetic variations in the human genome. (DO)" [http://ghr.nlm.nih.gov/ "DO"]
synonym: "genetic diseases" EXACT []
synonym: "Genetic Disorder" EXACT []
synonym: "Genetic Disorders" EXACT []
synonym: "Hereditary Disease" EXACT []
synonym: "Hereditary Diseases" EXACT []
synonym: "HEREDITARY DISORDER" EXACT []
synonym: "hereditary genetic disorder" EXACT []
synonym: "Inborn Genetic Disease" EXACT []
synonym: "inborn genetic diseases" EXACT []
synonym: "single-gene defect" NARROW []
synonym: "single gene defects" NARROW []
xref: EFO:0000508
xref: EFO:0004904
xref: MESH:D030342
xref: NCI:C3101
is_a: DOID:9004324 ! Congenital, Hereditary, and Neonatal Diseases and Abnormalities

[Term]
id: DOID:6307
name: ectopic thymus
xref: MONDO:0003848
xref: NCI:C27804
is_a: DOID:533 ! thymus gland disease

[Term]
id: DOID:631
name: fibromyalgia
def: "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30486733/ "DO", https://pubmed.ncbi.nlm.nih.gov/32120395/ "DO", https://pubmed.ncbi.nlm.nih.gov/33024295/ "DO", https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7660651/ "DO"]
synonym: "Diffuse Myofascial Pain Syndrome" EXACT []
synonym: "Fibromyalgia Fibromyositis Syndrome" EXACT []
synonym: "fibromyalgia-fibromyositis syndromes" EXACT []
synonym: "Fibromyalgias" EXACT []
synonym: "Fibrositides" EXACT []
synonym: "Fibrositis" EXACT []
synonym: "Muscular Rheumatism" EXACT []
synonym: "Primary Fibromyalgia" EXACT []
synonym: "Primary Fibromyalgias" EXACT []
synonym: "Secondary Fibromyalgia" EXACT []
synonym: "secondary fibromyalgias" EXACT []
xref: EFO:0005687
xref: ICD10CM:M79.7
xref: MESH:D005356
xref: NCI:C50566
xref: NCI:C87497
is_a: DOID:0080000 ! muscular disease
is_a: DOID:1575 ! rheumatic disease
is_a: DOID:633 ! myositis

[Term]
id: DOID:6312
name: clivus chordoma
def: "A chordoma of skull base that is located in the clivus. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1656331/ "DO"]
synonym: "chordoma of clivus" EXACT []
xref: NCI:C5412
is_a: DOID:4151 ! skull base chordoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:6313
name: clivus chondroid chordoma
def: "A chondroid chordoma and chordoma of the clivus that is located_in the clivus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/ "DO"]
synonym: "chondroid chordoma of the clivus" EXACT []
xref: NCI:C5426
is_a: DOID:4152 ! chondroid chordoma
is_a: DOID:6312 ! clivus chordoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:6314
name: ovarian fetiform teratoma
def: "A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28446797 "DO"]
xref: NCI:C39996
is_a: DOID:6231 ! mature teratoma of the ovary
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6315
name: ovarian solid teratoma
def: "A mature teratoma of the ovary that is predominantly solid with interspersed cysts. (DO)" [https://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27636886 "DO"]
xref: NCI:C7285
is_a: DOID:6231 ! mature teratoma of the ovary
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6316
name: Bartholin's gland adenocarcinoma
def: "A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue. (DO)" [https://en.wikipedia.org/wiki/Adenocarcinoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/7272963 "DO"]
synonym: "adenocarcinoma of Bartholin's gland" EXACT []
synonym: "adenocarcinoma of the Bartholin's gland" EXACT []
synonym: "Bartholin gland adenocarcinoma" EXACT []
xref: NCI:C7719
is_a: DOID:2098 ! vulva adenocarcinoma
is_a: DOID:3999 ! Bartholin's gland carcinoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6322
name: tibial adamantinoma
def: "An adamantinoma of long bone that is located_in the tibia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30210255 "DO"]
synonym: "tibial adamantinoma morphology" EXACT []
xref: EFO:1000596
xref: NCI:C8461
is_a: DOID:2775 ! long bone adamantinoma

[Term]
id: DOID:633
name: myositis
def: "A myopathy characterized by muscle inflammation. (DO)" [http://www.nlm.nih.gov/medlineplus/myositis.html "DO", https://en.wikipedia.org/wiki/Myositis "DO"]
synonym: "focal myositides" EXACT []
synonym: "Focal Myositis" EXACT []
synonym: "Idiopathic Inflammatory Myopathies" EXACT []
synonym: "Idiopathic Inflammatory Myopathy" EXACT []
synonym: "Idiopathic Inflammatory Myositis" EXACT []
synonym: "Infectious Myositides" EXACT []
synonym: "Infectious Myositis" EXACT []
synonym: "inflammatory disorder of muscle" EXACT []
synonym: "Inflammatory Muscle Disease" EXACT []
synonym: "Inflammatory Muscle Diseases" EXACT []
synonym: "Inflammatory Myopathies" EXACT []
synonym: "Inflammatory Myopathy" EXACT []
synonym: "Myositides" EXACT []
synonym: "Proliferative Myositides" EXACT []
synonym: "proliferative myositis" EXACT []
xref: EFO:0000783
xref: ICD10CM:M60
xref: ICD10CM:M60.9
xref: MESH:D009220
xref: NCI:C27578
is_a: DOID:423 ! myopathy
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:6331
name: immature teratoma of ovary
def: "A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26142911 "DO"]
synonym: "malignant teratoma of ovary" EXACT []
synonym: "ovarian immature teratoma" EXACT []
synonym: "ovarian malignant teratoma" EXACT []
xref: NCI:C39995
xref: NCI:C8111
xref: ORDO:398987
is_a: DOID:2155 ! malignant ovarian germ cell neoplasm
is_a: DOID:5563 ! malignant teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6332
name: adult malignant hemangiopericytoma
xref: NCI:C7946
is_a: DOID:9000235 ! Malignant Hemangiopericytoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6333
name: adult intracranial malignant hemangiopericytoma
xref: NCI:C9183
is_a: DOID:201 ! connective tissue cancer
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:6334
name: anterior optic tract meningioma
xref: NCI:C7538
is_a: DOID:3419 ! optic nerve neoplasm
is_a: DOID:3565 ! meningioma

[Term]
id: DOID:6335
name: bilateral meningioma of optic nerve
synonym: "bilateral meningioma of the optic nerve" EXACT []
xref: MESH:C000608854
xref: NCI:C5304
is_a: DOID:3419 ! optic nerve neoplasm
is_a: DOID:3565 ! meningioma

[Term]
id: DOID:6337
name: cerebellopontine angle meningioma
synonym: "cerebellar pontine angle meningioma" EXACT []
synonym: "meningioma of C-P angle" EXACT []
synonym: "meningioma of the cerebellar pontine angle" EXACT []
xref: NCI:C5300
is_a: DOID:0060106 ! brain meningioma
is_a: DOID:3200 ! cerebellopontine angle tumor
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6339
name: vulvar eccrine adenocarcinoma
def: "A vulva adenocarcinoma that has_material_basis_in eccrine glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27832810 "DO"]
xref: NCI:C40305
is_a: DOID:2098 ! vulva adenocarcinoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6344
name: melanotic psammomatous malignant peripheral nerve sheath tumor
synonym: "melanocytic psammomatous MPNST" EXACT []
xref: NCI:C6910
is_a: DOID:6345 ! malignant melanocytic neoplasm of the peripheral nerve sheath
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6345
name: malignant melanocytic neoplasm of the peripheral nerve sheath
synonym: "melanocytic MPNST" EXACT []
synonym: "melanotic malignant nerve sheath tumor" EXACT []
synonym: "melanotic malignant peripheral nerve sheath tumor" EXACT []
synonym: "melanotic malignant peripheral nerve sheath tumour" EXACT []
xref: NCI:C4748
is_a: DOID:5940 ! malignant peripheral nerve sheath tumor
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:635
name: acquired immunodeficiency syndrome
def: "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. (DO)" [http://en.wikipedia.org/wiki/AIDS "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aids "DO"]
synonym: "acquired immune deficiency" EXACT []
synonym: "Acquired Immune Deficiency Syndrome" EXACT []
synonym: "Acquired Immuno Deficiency Syndrome" EXACT []
synonym: "acquired immunodeficiency syndrome, delayed progression to" NARROW []
synonym: "acquired immunodeficiency syndrome, rapid progression to" NARROW []
synonym: "Acquired Immunodeficiency Syndromes" EXACT []
synonym: "acquired immuno-deficiency syndromes" EXACT []
synonym: "acquired immunodeficiency syndrome, slow progression to" NARROW []
synonym: "acquired immunologic deficiency syndrome" EXACT []
synonym: "AIDS" EXACT []
synonym: "AIDS-related disease" NARROW []
xref: EFO:0000765
xref: EFO:0009528
xref: MESH:D000163
xref: NCI:C2851
is_a: DOID:526 ! human immunodeficiency virus infectious disease
is_a: DOID:9004448 ! Slow Virus Diseases

[Term]
id: DOID:6354
name: chronic lymphocytic leukemia/small lymphocytic lymphoma
def: "A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes. (DO)" [http://www.cancer.gov/dictionary?CdrID=641291 "DO", https://lymphoma.org/aboutlymphoma/cll/ "DO"]
synonym: "B-cell lymphocytic leukemia/small lymphocytic lymphoma" EXACT []
synonym: "CLL/SLL" EXACT []
xref: ICDO:9823/3
xref: NCI:C27911
is_a: DOID:1040 ! chronic lymphocytic leukemia
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:636
name: central pontine myelinolysis
def: "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria. (DO)" [https://en.wikipedia.org/wiki/Central_pontine_myelinolysis "DO", https://pubmed.ncbi.nlm.nih.gov/25220878/ "DO"]
synonym: "Central Pontine Myelinoclasis" EXACT []
synonym: "extrapontine myelinoclases" EXACT []
synonym: "Extrapontine Myelinoclasis" EXACT []
synonym: "Extrapontine Myelinolyses" EXACT []
synonym: "extrapontine myelinolysis" EXACT []
synonym: "osmotic demyelination syndrome" EXACT []
xref: EFO:1000857
xref: GARD:8749
xref: ICD10CM:G37.2
xref: MESH:D017590
xref: NCI:C84623
is_a: DOID:3213 ! demyelinating disease
is_a: DOID:9005627 ! Metabolic Brain Diseases

[Term]
id: DOID:6364
name: migraine
alt_id: MIM:157300
alt_id: MIM:300125
alt_id: MIM:607498
alt_id: MIM:607508
alt_id: MIM:609570
alt_id: MIM:610208
alt_id: MIM:610209
alt_id: MIM:611706
alt_id: MIM:613656
def: "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. (DO)" [http://en.wikipedia.org/wiki/Migraine "DO", http://www.mayoclinic.com/health/migraine-headache/DS00120 "DO"]
synonym: "abdominal migraine" EXACT []
synonym: "abdominal migraines" EXACT []
synonym: "acute confusional migraine" EXACT []
synonym: "acute confusional migraines" EXACT []
synonym: "cervical migraine syndrome" EXACT []
synonym: "cervical migraine syndromes" EXACT []
synonym: "hemicrania migraine" EXACT []
synonym: "hemicrania migraines" EXACT []
synonym: "MA" EXACT []
synonym: "MFTS" EXACT []
synonym: "MGAU" EXACT []
synonym: "MGR1" RELATED []
synonym: "MGR10" RELATED []
synonym: "MGR11" RELATED []
synonym: "MGR12" RELATED []
synonym: "MGR2" RELATED []
synonym: "MGR3" RELATED []
synonym: "MGR5" RELATED []
synonym: "MGR8" RELATED []
synonym: "migraine disorder" EXACT []
synonym: "migraine disorders" EXACT []
synonym: "migraine headache" EXACT []
synonym: "migraine headaches" EXACT []
synonym: "migraine, resistance to" RELATED []
synonym: "migraines" EXACT []
synonym: "migraine variant" EXACT []
synonym: "migraine variants" EXACT []
synonym: "migraine with or without aura" EXACT []
synonym: "migraine with or without aura, susceptibility to" RELATED []
synonym: "migraine with or without aura, susceptibility to, 1" RELATED []
synonym: "migraine with or without aura, susceptibility to, 10" RELATED []
synonym: "migraine with or without aura, susceptibility to, 11" RELATED []
synonym: "migraine with or without aura, susceptibility to, 12" RELATED []
synonym: "migraine with or without aura, susceptibility to, 13" RELATED []
synonym: "migraine with or without aura, susceptibility to, 2" RELATED []
synonym: "migraine with or without aura, susceptibility to, 3" RELATED []
synonym: "migraine with or without aura, susceptibility to, 5" RELATED []
synonym: "migraine with or without aura, susceptibility to, 8" RELATED []
synonym: "sick headache" EXACT []
synonym: "sick headaches" EXACT []
synonym: "status migrainosus" EXACT []
xref: EFO:0003821
xref: ICD10CM:G43
xref: ICD9CM:346
xref: MESH:D008881
xref: MIM:PS157300
xref: MONDO:0005277
xref: NCI:C89715
is_a: DOID:9001144 ! Primary Headache Disorders

[Term]
id: DOID:6367
name: acral lentiginous melanoma
def: "A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes. (DO)" [http://en.wikipedia.org/wiki/Acral_lentiginous_melanoma "DO", http://en.wikipedia.org/wiki/Lentigo "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1352575/ "DO"]
synonym: "malignant acral lentiginous melanoma" EXACT []
xref: GARD:9570
xref: NCI:C4022
is_a: DOID:8923 ! skin melanoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:6370
name: hepatic osteogenic sarcoma
synonym: "osteosarcoma of liver" EXACT []
xref: NCI:C5833
is_a: DOID:268 ! liver angiosarcoma
is_a: DOID:270 ! liver sarcoma
is_a: DOID:3357 ! extraosseous osteosarcoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:6376
name: hypersplenism
def: "Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." [MESH:D006971]
synonym: "hypersplenia" EXACT []
synonym: "splenic anemia" EXACT []
synonym: "splenic anemias" EXACT []
xref: EFO:1000975
xref: ICD10CM:D73.1
xref: ICD9CM:289.4
xref: MESH:D006971
xref: MONDO:0006795
xref: NCI:C34714
is_a: DOID:2529 ! splenic disease

[Term]
id: DOID:6379
name: diffuse meningeal melanocytosis
def: "A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. (DO)" [https://radiopaedia.org/articles/meningeal-melanocytosis?lang=us "DO"]
synonym: "diffuse melanocytosis" EXACT []
synonym: "diffuse melanosis" EXACT []
synonym: "Meningeal melanocytosis" EXACT []
xref: EFO:1000216
xref: ICDO:8728/0
xref: NCI:C6890
xref: ORDO:252031
is_a: DOID:4955 ! central nervous system melanocytic neoplasm

[Term]
id: DOID:6381
name: anterior foramen magnum meningioma
synonym: "meningioma of the anterior foramen magnum" EXACT []
xref: NCI:C5281
is_a: DOID:4708 ! foramen magnum meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:6383
name: childhood brain stem glioma
synonym: "pediatric glioma of the Brainstem" EXACT [NCI2004_11_17:C9042]
xref: GARD:9306
xref: NCI:C9042
is_a: DOID:4206 ! childhood brain stem neoplasm

[Term]
id: DOID:6386
name: childhood brainstem astrocytoma
xref: ICD-O:M9400/3
xref: NCI:C6216
is_a: DOID:6383 ! childhood brain stem glioma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:639
name: acute disseminated encephalomyelitis
def: "An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. (DO)" [http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis "DO", http://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm "DO"]
synonym: "acute disseminated encephalitis" EXACT []
synonym: "acute disseminated encephalomyelitides" EXACT []
synonym: "ADEM" EXACT []
synonym: "postexanthem encephalomyelitis" EXACT []
synonym: "postinfectious encephalomyelitis" EXACT []
xref: EFO:0007130
xref: GARD:8639
xref: MESH:D004673
xref: NCI:C34578
is_a: DOID:640 ! encephalomyelitis
is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:640
name: encephalomyelitis
def: "A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." [MESH:D004679]
synonym: "encephalitis &/or myelitis" EXACT []
synonym: "inflammatory encephalomyelitis" EXACT []
synonym: "myeloencephalitides" EXACT []
synonym: "myeloencephalitis" EXACT []
xref: EFO:0001423
xref: MESH:D004679
xref: NCI:C34580
is_a: DOID:331 ! central nervous system disease
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:6404
name: metanephric adenoma
xref: EFO:1000373
xref: ICDO:8325/0
xref: NCI:C27253
is_a: DOID:2697 ! renal adenoma

[Term]
id: DOID:6405
name: ovarian papillary cystadenoma
def: "An ovarian cystadenoma that is characterized by the presence of finger-like projections. (DO)" [https://www.sciencedirect.com/science/article/pii/S0002961041905159 "DO"]
xref: NCI:C7278
is_a: DOID:3269 ! ovarian cystadenoma
is_a: DOID:6214 ! ovarian papillary neoplasm
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:6406
name: double outlet right ventricle
def: "Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted." [MESH:D004310]
synonym: "dextrotransposition of aorta" EXACT []
synonym: "Double Outlet Right Ventricle, Noncommitted VSD" EXACT []
synonym: "Double Outlet Right Ventricle, Subaortic VSD" EXACT []
synonym: "Double Outlet Right Ventricle, Subpulmonary VSD" EXACT []
synonym: "double outlet right ventricle with subpulmonary ventricular septal defect" EXACT []
synonym: "Taussig Bing Anomaly" EXACT []
synonym: "Taussig-Bing syndrome or defect" EXACT []
xref: GARD:1908
xref: ICD10CM:Q20.1
xref: ICD9CM:745.11
xref: MESH:D004310
xref: NCI:C98916
xref: ORDO:3426
is_a: DOID:0060770 ! dextro-looped transposition of the great arteries
is_a: DOID:1657 ! ventricular septal defect

[Term]
id: DOID:6407
name: ovarian surface papilloma
def: "An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/439088 "DO"]
xref: NCI:C7279
is_a: DOID:6214 ! ovarian papillary neoplasm
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:6408
name: ovary papillary carcinoma
def: "An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells. (DO)" [https://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7185762 "DO"]
synonym: "serous surface papillary carcinoma of ovary" EXACT []
xref: NCI:C6256
is_a: DOID:3113 ! papillary carcinoma
is_a: DOID:4001 ! ovarian carcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6419
name: tetralogy of Fallot
alt_id: MIM:187500
def: "A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS." [MESH:D013771]
synonym: "Fallot's tetralogy" EXACT []
synonym: "Fallots Tetralogy" EXACT []
synonym: "Fallot tetralogy" EXACT []
synonym: "TOF" EXACT []
synonym: "Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" EXACT []
xref: EFO:0004894
xref: GARD:2245
xref: ICD10CM:Q21.3
xref: ICD9CM:745.2
xref: MESH:D013771
xref: NCI:C84505
xref: ORDO:3303
is_a: DOID:1657 ! ventricular septal defect
is_a: DOID:6420 ! pulmonary valve stenosis
is_a: DOID:9006102 ! Right Ventricular Hypertrophy
is_a: DOID:9006735 ! Overriding Aorta

[Term]
id: DOID:6420
name: pulmonary valve stenosis
alt_id: MIM:265500
def: "The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." [MESH:D011666]
synonym: "Pulmonary Stenose" EXACT []
synonym: "pulmonary stenoses" EXACT []
synonym: "Pulmonary Stenosis" EXACT []
synonym: "Pulmonary Valve Stenoses" EXACT []
synonym: "Pulmonic Stenoses" EXACT []
synonym: "pulmonic stenosis" EXACT []
synonym: "valvular pulmonic stenoses" EXACT []
synonym: "valvular pulmonic stenosis" EXACT []
xref: EFO:1001138
xref: GARD:4596
xref: MESH:D011666
xref: NCI:C50715
is_a: DOID:5749 ! pulmonary valve disease
is_a: DOID:9004319 ! Ventricular Outflow Obstruction

[Term]
id: DOID:6423
name: childhood central nervous system mature teratoma
xref: NCI:C27404
is_a: DOID:6017 ! central nervous system mature teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6425
name: eyelid carcinoma
synonym: "carcinoma of the eyelid" EXACT []
xref: NCI:C6078
is_a: DOID:0060116 ! sensory system cancer
is_a: DOID:3451 ! skin carcinoma
is_a: DOID:530 ! eyelid disease
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6428
name: cervical adenoid basal carcinoma
def: "A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small,\nwell differentiated, rounded nests of basaloid cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10872669 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25207054 "DO"]
xref: EFO:1000160
xref: NCI:C40213
is_a: DOID:2893 ! cervix carcinoma

[Term]
id: DOID:643
name: progressive multifocal leukoencephalopathy
def: "A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma. (DO)" [http://www.merck.com/mmpe/sec16/ch217/ch217f.html "DO", http://www.merriam-webster.com/medical/progressive%20multifocal%20leukoencephalopathy "DO", http://www.ninds.nih.gov/disorders/pml/pml.htm "DO"]
synonym: "JC polyomavirus encephalitis" EXACT []
synonym: "JC polyomavirus encephalopathies" EXACT []
synonym: "JC polyomavirus encephalopathy" EXACT []
synonym: "PML" EXACT []
synonym: "progressive multifocal leukoencephalopathies" EXACT []
xref: EFO:0007455
xref: GARD:7468
xref: ICD10CM:A81.2
xref: ICD9CM:046.3
xref: MESH:D007968
xref: NCI:C26815
is_a: DOID:3213 ! demyelinating disease
is_a: DOID:646 ! viral encephalitis
is_a: DOID:9000386 ! Polyomavirus Infections
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9004448 ! Slow Virus Diseases

[Term]
id: DOID:6432
name: pulmonary hypertension
def: "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. (DO)" [https://en.wikipedia.org/wiki/Pulmonary_hypertension "DO", https://www.ncbi.nlm.nih.gov/pubmed/19555858 "DO"]
synonym: "PHT" EXACT []
synonym: "primary pulmonary hypertension, fenfluramine-associated" NARROW []
synonym: "PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED" NARROW []
xref: EFO:0001361
xref: ICD10CM:I27.20
xref: MESH:D006976
xref: NCI:C3120
is_a: DOID:10763 ! hypertension
is_a: DOID:850 ! lung disease

[Term]
id: DOID:6438
name: malignant choroid melanoma
synonym: "choroidal melanoma" EXACT []
synonym: "malignant melanoma of choroid" EXACT [SNOMEDCT_2005_07_31:255021005]
synonym: "melanoma of the Choroid" EXACT [NCI2004_11_17:C4561]
xref: EFO:0009093
xref: NCI:C4561
is_a: DOID:12759 ! choroid cancer

[Term]
id: DOID:6445
name: ovarian endometrioid malignant adenofibroma
xref: NCI:C40060
xref: RDO:9001891
is_a: DOID:6170 ! ovarian carcinosarcoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:6446
name: ceruminous adenocarcinoma
xref: ICDO:8420/3
xref: NCI:C4176
is_a: DOID:4933 ! apocrine carcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6448
name: vulvar apocrine adenocarcinoma
def: "A vulva adenocarcinoma that has_material_basis_in apocrine glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24179652 "DO"]
xref: NCI:C40308
is_a: DOID:2098 ! vulva adenocarcinoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6451
name: central nervous system fibrosarcoma
synonym: "fibrosarcoma of the CNS" EXACT []
xref: NCI:C5465
is_a: DOID:2133 ! central nervous system sarcoma
is_a: DOID:3355 ! fibrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:6457
name: Cowden syndrome
def: "A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. (DO)" [http://en.wikipedia.org/wiki/Cowden_syndrome "DO", http://ghr.nlm.nih.gov/condition/cowden-syndrome "DO", http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/1 "DO"]
synonym: "CD" EXACT []
synonym: "cerebellum dysplastic gangliocytoma" EXACT []
synonym: "cerebellum dysplastic gangliocytomas" EXACT []
synonym: "Cowden's disease" EXACT []
synonym: "Cowden's syndrome" EXACT []
synonym: "Cowden disease" EXACT []
synonym: "Cowden disease 3" RELATED []
synonym: "Cowdens disease" EXACT []
synonym: "Cowdens syndrome" EXACT []
synonym: "dysplastic gangliocytoma of cerebellum" EXACT []
synonym: "dysplastic gangliocytoma of the cerebellum" EXACT []
synonym: "LDD" EXACT []
synonym: "Lhermitte-Duclos disease" EXACT []
xref: GARD:6202
xref: ICDO:9493/0
xref: MIM:PS158350
xref: NCI:C3076
xref: NCI:C8419
xref: ORDO:201
is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:6458
name: cerebellar liponeurocytoma
def: "A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33964714/ "DO"]
synonym: "lipomatous medulloblastoma" EXACT []
xref: EFO:1000159
xref: GARD:10642
xref: NCI:C6905
is_a: DOID:4205 ! cerebellum cancer
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:6459
name: rectal lipoma
def: "A rectal benign neoplasm that has_material_basis_in fat tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22084744/ "DO"]
synonym: "lipoma of rectum" EXACT []
synonym: "lipoma of the rectum" EXACT []
xref: NCI:C5551
is_a: DOID:1984 ! rectal benign neoplasm
is_a: DOID:6460 ! large intestine lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:646
name: viral encephalitis
def: "An encephalitis that involves inflammation of the brain caused by viral infection. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/14978145 "DO"]
synonym: "epidemic encephalitides" EXACT []
synonym: "epidemic encephalitis" EXACT []
synonym: "viral infectious encephalomyelitis" EXACT []
xref: EFO:0007538
xref: MESH:D018792
xref: NCI:C34576
is_a: DOID:9003736 ! Central Nervous System Viral Diseases
is_a: DOID:9003824 ! Infectious Encephalitis

[Term]
id: DOID:6460
name: large intestine lipoma
def: "An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24950559 "DO"]
synonym: "lipoma of large intestine" EXACT []
xref: NCI:C5678
is_a: DOID:3315 ! lipoma
is_a: DOID:4610 ! intestinal benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6468
name: mucinous cystadenofibroma
def: "A cystadenofibroma that is characterized by the presence of mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23297622 "DO"]
xref: NCI:C8979
is_a: DOID:5482 ! cystadenofibroma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6469
name: ovarian mucinous adenofibroma
def: "An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1996729 "DO"]
xref: NCI:C40040
is_a: DOID:0060112 ! ovarian benign neoplasm
is_a: DOID:9002755 ! Benign Ovarian Mucinous Tumor

[Term]
id: DOID:6474
name: childhood teratocarcinoma of the testis
synonym: "pediatric testicular teratocarcinoma" EXACT []
xref: ICD-O:M9081/3
xref: NCI:C6539
is_a: DOID:6161 ! childhood testicular mixed germ cell tumor

[Term]
id: DOID:6476
name: clear cell variant infiltrating bladder urothelial carcinoma
xref: NCI:C39827
is_a: DOID:6477 ! invasive bladder transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:6477
name: invasive bladder transitional cell carcinoma
synonym: "invasive bladder urothelial carcinoma" EXACT []
xref: NCI:C27885
is_a: DOID:4006 ! bladder urothelial carcinoma
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:648
name: kuru
alt_id: MIM:245300
def: "A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" [MESH:D007729]
synonym: "kuru encephalopathy" EXACT []
synonym: "kuru, protection against" RELATED []
synonym: "kuru, susceptibility to" RELATED []
xref: EFO:1001008
xref: GARD:7617
xref: ICD10CM:A81.81
xref: ICD9CM:046.0
xref: MESH:D007729
is_a: DOID:649 ! prion disease

[Term]
id: DOID:6481
name: bladder signet ring cell adenocarcinoma
synonym: "signet ring cell adenocarcinoma of bladder" RELATED []
synonym: "urinary bladder signet ring adenocarcinoma" EXACT []
xref: NCI:C6163
is_a: DOID:3493 ! signet ring cell adenocarcinoma
is_a: DOID:3711 ! bladder adenocarcinoma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:6482
name: lung acinar adenocarcinoma
synonym: "acinar adenocarcinoma of the lung" EXACT []
xref: NCI:C5649
is_a: DOID:3910 ! lung adenocarcinoma
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:6483
name: rete testis adenoma
def: "A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10320920 "DO"]
xref: NCI:C39956
is_a: DOID:0060087 ! male reproductive organ benign neoplasm
is_a: DOID:5639 ! rete testis neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:6484
name: mediastinal melanocytic neurilemmoma
synonym: "mediastinal melanotic schwannoma" EXACT []
synonym: "melanocytic schwannoma of mediastinum" EXACT []
xref: NCI:C6635
is_a: DOID:3205 ! melanotic neurilemmoma
is_a: DOID:6175 ! mediastinal neurilemmoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6489
name: periosteal osteogenic sarcoma
synonym: "periosteal osteosarcoma" EXACT []
xref: NCI:C8970
is_a: DOID:3374 ! peripheral osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:649
name: prion disease
def: "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. (DO)" [http://en.wikipedia.org/wiki/Prion "DO", http://www.cdc.gov/ncidod/dvrd/prions/ "DO"]
synonym: "genetic prion disease" NARROW []
synonym: "Genetic Prion Diseases" NARROW []
synonym: "Inherited Human Transmissible Spongiform Encephalopathies" NARROW []
synonym: "INHERITED PRION DISEASE" NARROW []
synonym: "Prion-Associated Disorders" EXACT []
synonym: "prion disease pathway" EXACT []
synonym: "prion diseases" EXACT []
synonym: "Prion Disease, Susceptibility To" RELATED []
synonym: "Prion Induced Disorder" EXACT []
synonym: "Prion-Induced Disorders" EXACT []
synonym: "Prion Protein Disease" EXACT []
synonym: "Prion Protein Diseases" EXACT []
synonym: "spongiform encephalopathy" EXACT []
synonym: "Transmissible Dementia" NARROW []
synonym: "Transmissible Dementias" NARROW []
synonym: "Transmissible Spongiform Encephalopathies" NARROW []
synonym: "transmissible spongiform encephalopathy" NARROW []
xref: EFO:0004720
xref: ICD10CM:A81.9
xref: MESH:D017096
xref: NCI:C128346
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:9000025 ! Central Nervous System Infections
is_a: DOID:936 ! brain disease

[Term]
id: DOID:6491
name: breast capillary hemangioma
def: "A breast hemangioma that is characterized by capillary-sized vessels. (DO)" [http://www.pathologyoutlines.com/topic/breasthemangioma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/26687640 "DO"]
synonym: "capillary angioma of breast" EXACT []
xref: NCI:C5210
is_a: DOID:1637 ! breast angiomatosis
is_a: DOID:2725 ! capillary hemangioma
is_a: DOID:476 ! breast hemangioma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6492
name: breast epithelioid hemangioma
def: "A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351506/ "DO"]
synonym: "breast histiocytoid hemangioma" EXACT []
xref: NCI:C5211
is_a: DOID:474 ! histiocytoid hemangioma
is_a: DOID:476 ! breast hemangioma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6494
name: childhood myxoid chondrosarcoma
synonym: "pediatric myxoid chondrosarcoma" EXACT []
xref: ICD-O:M9231/3
xref: MONDO:0003898
xref: NCI:C27377
is_a: DOID:5861 ! myxoid chondrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:6498
name: seborrheic keratosis
alt_id: MIM:182000
def: "Benign eccrine poromas that present as multiple oval, brown-to-black plaques, located mostly on the chest and back. The age of onset is usually in the fourth or fifth decade." [MESH:D017492]
synonym: "Keratosis Seborrheica" EXACT []
synonym: "Seborrheic Keratoses" EXACT []
xref: EFO:0005584
xref: GARD:3108
xref: ICD10CM:L82.1
xref: ICD9CM:702.1
xref: MESH:D017492
xref: NCI:C9006
is_a: DOID:161 ! keratosis
is_a: DOID:174 ! acanthoma
is_a: DOID:3165 ! skin benign neoplasm

[Term]
id: DOID:65
name: connective tissue disease
def: "A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. (DO)" [http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp "DO"]
synonym: "connective tissue diseases" EXACT []
synonym: "connective tissue disorder" EXACT []
synonym: "disorder of connective tissue" EXACT []
synonym: "fibroblastic disorder" NARROW []
xref: EFO:0009432
xref: EFO:1001986
xref: MESH:D003240
xref: NCI:C26729
is_a: DOID:17 ! musculoskeletal system disease
is_a: DOID:9003003 ! Skin and Connective Tissue Diseases

[Term]
id: DOID:6500
name: cerebellar angioblastoma
def: "A hemangioma of the cerebellum that tends to be associated with von Hippel-Lindau disease. (Merriam-Webster)" []
synonym: "cerebellar hemangioblastoma" EXACT []
synonym: "hemangioblastoma of cerebellum" EXACT []
synonym: "sporadic cerebellar hemangioblastoma" NARROW []
xref: MONDO:0003901
xref: NCI:C5146
is_a: DOID:305 ! carcinoma
is_a: DOID:4205 ! cerebellum cancer
is_a: DOID:501 ! central nervous system hemangioma
is_a: DOID:5241 ! hemangioblastoma
created_by: rgd
creation_date: 2016-09-09T00:00:00Z

[Term]
id: DOID:6501
name: brain stem angioblastoma
def: "A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells. (DO)" [https://en.wikipedia.org/wiki/Hemangioblastoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/19787293 "DO"]
synonym: "hemangioblastoma of brainstem" EXACT []
xref: MONDO:0003902
xref: NCI:C5147
is_a: DOID:305 ! carcinoma
is_a: DOID:4203 ! brain stem cancer
is_a: DOID:501 ! central nervous system hemangioma
is_a: DOID:5241 ! hemangioblastoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:6505
name: vaginal spindle cell epithelioma
def: "A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782956/ "DO"]
xref: NCI:C40280
is_a: DOID:135 ! benign vaginal carcinosarcoma

[Term]
id: DOID:6510
name: lung occult squamous cell carcinoma
synonym: "occult squamous cell carcinoma of lung" RELATED []
synonym: "Occult squamous cell carcinoma of the lung" EXACT [NCI2004_11_17:C6686]
xref: NCI:C6686
xref: RDO:9002963
is_a: DOID:3907 ! lung squamous cell carcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:6511
name: glandular pattern ovarian yolk sac tumor
def: "An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25395492 "DO"]
xref: NCI:C39988
xref: RDO:9005070
is_a: DOID:5350 ! ovarian endodermal sinus tumor
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:6512
name: hepatoid pattern ovarian yolk sac tumor
def: "An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile. (DO)" [http://www.pathologyoutlines.com/topic/ovarytumoryolksac.html "DO"]
xref: NCI:C39989
xref: RDO:9005071
is_a: DOID:5350 ! ovarian endodermal sinus tumor
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:6514
name: polyvesicular vitelline pattern ovarian yolk sac tumor
def: "An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma. (DO)" [http://www.pathologyoutlines.com/topic/ovarytumoryolksac.html "DO"]
xref: NCI:C39987
xref: RDO:9005072
is_a: DOID:5350 ! ovarian endodermal sinus tumor
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:6517
name: clivus meningioma
synonym: "meningioma of the clivus" EXACT []
xref: NCI:C5289
is_a: DOID:4211 ! posterior fossa meningioma
is_a: DOID:4437 ! skull base meningioma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6518
name: Bartholin's gland adenomyoma
def: "A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9785128 "DO"]
synonym: "Bartholin gland adenomyoma" EXACT []
xref: NCI:C40300
is_a: DOID:2068 ! Bartholin's gland benign neoplasm
is_a: DOID:2609 ! adenomyoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:6522
name: mixed cell uveal melanoma
xref: EFO:1000380
xref: NCI:C35781
xref: RDO:9003801
is_a: DOID:6039 ! uveal melanoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6523
name: ciliary body mixed cell melanoma
xref: NCI:C35783
is_a: DOID:1752 ! ocular melanoma
is_a: DOID:6522 ! mixed cell uveal melanoma
is_a: DOID:6524 ! malignant ciliary body melanoma
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:6524
name: malignant ciliary body melanoma
synonym: "malignant melanoma of ciliary body" EXACT []
synonym: "melanoma of the ciliary body" EXACT []
xref: NCI:C4558
is_a: DOID:4352 ! ciliary body cancer

[Term]
id: DOID:6525
name: choroid mixed cell melanoma
xref: NCI:C35782
is_a: DOID:6438 ! malignant choroid melanoma

[Term]
id: DOID:653
name: purine-pyrimidine metabolic disorder
def: "An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. (DO)" [http://en.wikipedia.org/wiki/Inborn_errors_of_purine-pyrimidine_metabolism "DO"]
synonym: "inborn errors of purine-pyrimidine metabolism" EXACT []
synonym: "purine-pyrimidine metabolism, inborn errors" EXACT []
xref: ICD10CM:E79.8
xref: ICD9CM:277.2
xref: MESH:D011686
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:6530
name: thymoma type B2
def: "A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/ "DO"]
synonym: "cortical thymoma" EXACT []
synonym: "polygonal cell thymoma" EXACT []
xref: NCI:C6888
is_a: DOID:3282 ! thymoma type B
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6536
name: plasma cell neoplasm
def: "A mature B-cell neoplasm that is composed of plasma cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4665 "DO"]
synonym: "plasma cell dyscrasia" EXACT []
synonym: "plasma cell neoplasms" EXACT []
synonym: "plasma cell tumour" EXACT []
synonym: "plasmacytic tumor" EXACT []
xref: EFO:0000200
xref: MESH:D054219
xref: NCI:C4665
is_a: DOID:706 ! mature B-cell neoplasm

[Term]
id: DOID:654
name: overnutrition
def: "A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. (DO)" [https://en.wikipedia.org/wiki/Overnutrition "DO"]
synonym: "hypernutrition" EXACT []
xref: MESH:D044343
is_a: DOID:374 ! nutrition disease

[Term]
id: DOID:6543
name: acne
def: "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. (DO)" [http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance "DO"]
synonym: "acne varioliformis" EXACT []
synonym: "acne vulgaris" EXACT []
synonym: "frontalis acne" EXACT []
xref: EFO:0003894
xref: ICD10CM:L70
xref: ICD10CM:L70.2
xref: ICD9CM:706.0
xref: MESH:D000152
is_a: DOID:9001519 ! Acneiform Eruptions
is_a: DOID:9098 ! sebaceous gland disease

[Term]
id: DOID:6547
name: heart lymphoma
synonym: "lymphoma of heart" EXACT []
xref: NCI:C5368
is_a: DOID:0060058 ! lymphoma
is_a: DOID:117 ! heart cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6548
name: angiomatous meningioma
xref: EFO:1000086
xref: ICDO:9534/0
xref: NCI:C4332
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:655
name: inherited metabolic disorder
def: "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. (DO)" [http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism "DO", http://www.ncbi.nlm.nih.gov/mesh/68008659 "DO"]
synonym: "Carbonic anhydrase I deficiency" RELATED []
synonym: "Carbonic anhydrase I, Guam" RELATED []
synonym: "DISORDERS OF INTRACELLULAR COBALAMIN METABOLISM" NARROW []
synonym: "Inborn Errors of Metabolism" EXACT []
synonym: "inborn metabolism disorder" EXACT []
synonym: "Inborn Metabolism Error" EXACT []
synonym: "metabolic hereditary disorder" EXACT []
synonym: "Metabolism, Inborn Errors" EXACT []
xref: MESH:D008661
xref: MIM:PS249270
xref: NCI:C34816
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:6552
name: gastric small cell carcinoma
def: "This is an aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." [NCI:C6764]
synonym: "gastric oat cell carcinoma" EXACT []
synonym: "gastric small cell neuroendocrine carcinoma" EXACT []
synonym: "oat cell carcinoma of the stomach" EXACT []
synonym: "small cell carcinoma of stomach" EXACT []
synonym: "small cell carcinoma of the stomach" EXACT []
xref: EFO:1000277
xref: NCI:C6764
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:5517 ! stomach carcinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:6553
name: posterior foramen magnum meningioma
synonym: "meningioma of the posterior foramen magnum" EXACT []
xref: NCI:C5282
is_a: DOID:4708 ! foramen magnum meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:6554
name: ovarian clear cell malignant adenofibroma
def: "An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6692303 "DO"]
synonym: "ovarian clear cell adenocarcinofibroma" EXACT []
xref: NCI:C40079
xref: RDO:9001899
is_a: DOID:2394 ! ovarian cancer
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:6559
name: ethmoid sinus Schneiderian papilloma
synonym: "Schneiderian papilloma of the ethmoid sinus" EXACT []
xref: NCI:C6836
is_a: DOID:1364 ! ethmoidal sinus benign neoplasm
is_a: DOID:2615 ! papilloma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:656
name: adrenal adenoma
def: "An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. (DO)" [http://en.wikipedia.org/wiki/Adrenal_adenoma "DO"]
synonym: "adenoma of the adrenal gland" EXACT []
xref: EFO:0003104
xref: GARD:5745
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:657 ! adenoma
is_a: DOID:9005582 ! Adrenal Cortex Neoplasms
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:6562
name: ethmoid sinus inverted papilloma
synonym: "inverted papilloma of the ethmoid sinus" EXACT []
xref: NCI:C6843
is_a: DOID:1364 ! ethmoidal sinus benign neoplasm
is_a: DOID:3179 ! inverted papilloma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6564
name: neurilemmoma of the pleura
synonym: "schwannoma of pleura" EXACT []
xref: NCI:C5418
is_a: DOID:0050621 ! respiratory system benign neoplasm
is_a: DOID:1532 ! pleural disease
is_a: DOID:956 ! peripheral nerve schwannoma

[Term]
id: DOID:6566
name: posterior uveal melanoma
synonym: "medium/large size posterior uveal melanoma" EXACT []
synonym: "small size posterior uveal melanoma" EXACT []
xref: NCI:C9089
xref: NCI:C9090
xref: RDO:9003802
is_a: DOID:6039 ! uveal melanoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6567
name: uterine corpus myxoid leiomyosarcoma
def: "A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26866354 "DO"]
xref: NCI:C40175
xref: RDO:9005038
is_a: DOID:5268 ! myxoid leiomyosarcoma
is_a: DOID:5289 ! uterus leiomyosarcoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6569
name: micropapillomatosis labialis
xref: NCI:C40290
is_a: DOID:2071 ! vulvar squamous papilloma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:657
name: adenoma
def: "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. (DO)" [http://coloncancer.about.com/od/glossaries/g/Adenoma.htm "DO", http://en.wikipedia.org/wiki/Adenoma "DO"]
synonym: "acinar cell adenoma" EXACT []
synonym: "acinic cell adenoma" EXACT []
synonym: "adenomas" EXACT []
synonym: "basal cell adenoma" EXACT []
synonym: "Basal Cell Adenomas" EXACT []
synonym: "Monomorphic Adenoma" EXACT []
synonym: "Monomorphic Adenomas" EXACT []
synonym: "trabecular adenoma" EXACT []
synonym: "trabecular adenomas" EXACT []
xref: EFO:0000232
xref: ICDO:8140/0
xref: MESH:D000236
xref: NCI:C2855
xref: NCI:C4196
is_a: DOID:0060084 ! cell type benign neoplasm
is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms

[Term]
id: DOID:6571
name: non-invasive bladder urothelial carcinoma
is_a: DOID:4006 ! bladder urothelial carcinoma
created_by: rgd
creation_date: 2017-09-11T00:00:00Z

[Term]
id: DOID:6575
name: childhood optic tract astrocytoma
synonym: "pediatric visual pathway astrocytoma" EXACT []
xref: NCI:C7534
is_a: DOID:4991 ! optic nerve astrocytoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:6576
name: childhood optic nerve glioma
synonym: "glioma of the pediatric visual pathway" EXACT [NCI2004_11_17:C7535]
xref: ICD-O:M9380/3
xref: NCI:C7535
xref: RDO:9004495
is_a: DOID:4992 ! optic nerve glioma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6579
name: chest wall bone cancer
def: "A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10451260 "DO"]
synonym: "malignant bone neoplasm of chest wall" EXACT []
synonym: "malignant bone tumor of the chest wall" EXACT []
xref: NCI:C6724
is_a: DOID:184 ! bone cancer
is_a: DOID:6758 ! chest wall lymphoma

[Term]
id: DOID:6581
name: breast apocrine carcinoma
def: "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders. (DO)" [http://surgpathcriteria.stanford.edu/breast/apocrinecabr/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23771415 "DO"]
synonym: "apocrine carcinoma of breast" EXACT []
xref: NCI:C5141
is_a: DOID:3458 ! breast adenocarcinoma
is_a: DOID:4933 ! apocrine carcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6585
name: breast oncocytic carcinoma
def: "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria. (DO)" [http://surgpathcriteria.stanford.edu/breast/oncocyticcabr/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/21111455 "DO"]
xref: ICDO:8290/3
xref: NCI:C40366
is_a: DOID:3458 ! breast adenocarcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6587
name: breast tubular carcinoma
def: "A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893342/ "DO"]
synonym: "invasive tubular breast carcinoma" EXACT []
synonym: "invasive tubular carcinoma of breast" EXACT []
synonym: "tubular carcinoma of breast" EXACT []
xref: NCI:C9135
is_a: DOID:3458 ! breast adenocarcinoma
is_a: DOID:4929 ! tubular adenocarcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6590
name: spondylitis
def: "Inflammation of the SPINE. This includes both arthritic and non-arthritic conditions." [MESH:D013166]
synonym: "spondylitides" EXACT []
xref: ICD10CM:M46
xref: ICD9CM:720.8
xref: MESH:D013166
is_a: DOID:0060564 ! spinal disease
is_a: DOID:1123 ! spondyloarthropathy
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9007047 ! Infectious Bone Diseases

[Term]
id: DOID:6594
name: bladder colonic type adenocarcinoma
xref: NCI:C39835
is_a: DOID:3711 ! bladder adenocarcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:6595
name: gastric tubular adenocarcinoma
synonym: "tubular adenocarcinoma of stomach" EXACT [NCI2004_11_17:C5473]
xref: EFO:1000030
xref: EFO:1000279
xref: NCI:C5473
xref: RDO:9002473
is_a: DOID:3717 ! gastric adenocarcinoma
is_a: DOID:4929 ! tubular adenocarcinoma
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:66
name: muscle tissue disease
def: "A muscular disease located in the muscle tissue. (DO)" [https://medlineplus.gov/muscledisorders.html "DO"]
synonym: "muscle tissue disorder" EXACT []
xref: MONDO:0003939
is_a: DOID:0080000 ! muscular disease
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:660
name: adrenal cortex cancer
synonym: "adrenal cortex cancers" EXACT []
synonym: "adrenocortical cancer" EXACT []
synonym: "adrenocortical cancers" EXACT []
synonym: "cancer of adrenal cortex" EXACT []
synonym: "cancer of the adrenal cortex" EXACT []
synonym: "malignant adrenocortical tumor" EXACT []
synonym: "malignant neoplasm of adrenal cortex" EXACT []
synonym: "malignant tumour of adrenal cortex" EXACT []
xref: EFO:1000796
xref: ICD10CM:C74.0
xref: NCI:C2858
xref: NCI:C9327
is_a: DOID:3953 ! adrenal gland cancer
is_a: DOID:9005582 ! Adrenal Cortex Neoplasms
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:6603
name: Kummell's disease
synonym: "Kummell's spondylitis" EXACT []
synonym: "Kummell disease" EXACT []
synonym: "traumatic spondylopathy" EXACT []
xref: ICD10CM:M48.3
xref: ICD9CM:721.7
is_a: DOID:1123 ! spondyloarthropathy
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6605
name: classic variant of chromophobe renal cell carcinoma
xref: NCI:C27888
xref: RDO:9004806
is_a: DOID:4471 ! chromophobe renal cell carcinoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6606
name: eosinophilic variant of chromophobe renal cell carcinoma
xref: NCI:C27889
xref: RDO:9004807
is_a: DOID:4471 ! chromophobe renal cell carcinoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6607
name: nervous system hibernoma
synonym: "hibernoma of nervous system" EXACT []
xref: NCI:C6997
is_a: DOID:6293 ! central nervous system lipoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:6608
name: endobronchial leiomyoma
xref: NCI:C5661
is_a: DOID:5136 ! lung leiomyoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:6610
name: bone epithelioid hemangioma
synonym: "bone hemangioma" EXACT []
synonym: "hemangioma of bone" EXACT []
synonym: "osseous epithelioid hemangioma" EXACT [NCI2004_11_17:C5396]
synonym: "osseous hemangioma" EXACT [NCI2004_11_17:C6477]
xref: EFO:1000132
xref: NCI:C5396
xref: NCI:C6477
is_a: DOID:0060094 ! bone benign neoplasm

[Term]
id: DOID:6612
name: leukocyte adhesion deficiency
def: "A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system. (DO)" [https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK539770/ "DO"]
synonym: "congenital leukocyte adherence deficiency" EXACT []
synonym: "Leukocyte-Adhesion Deficiency Syndrome" EXACT []
synonym: "Leukocyte-Adhesion Deficiency Syndromes" EXACT []
xref: EFO:1001359
xref: GARD:9544
xref: MESH:D018370
xref: NCI:C27874
xref: ORDO:2968
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:628 ! combined T cell and B cell immunodeficiency
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:6613
name: vaginal villous adenoma
def: "A vaginal adenoma that is a polyp that resembles colorectal villous adenoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18603704 "DO"]
xref: NCI:C40259
is_a: DOID:5402 ! vaginal adenoma

[Term]
id: DOID:6620
name: X-linked hyper IgM syndrome
def: "A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome "DO"]
synonym: "hyper-IgM immunodeficiency syndrome type 1" EXACT []
synonym: "hyper-IgM syndrome 1" EXACT []
synonym: "hyper-IgM syndrome type 1" EXACT []
synonym: "hyperimmunoglobulin M syndrome" EXACT []
synonym: "immunodeficiency with hyper IgM type 1" EXACT []
xref: GARD:73
xref: NCI:C158531
xref: NCI:C3990
xref: ORDO:101088
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0080544 ! hyper IgM syndrome

[Term]
id: DOID:6621
name: cerebral angioma
def: "A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen. (DO)" [https://en.wikipedia.org/wiki/Cavernous_hemangioma "DO"]
synonym: "hemangioma of cerebrum" EXACT []
xref: NCI:C5433
is_a: DOID:5393 ! brain angioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:6627
name: cervical adenoma malignum
def: "A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma. (DO)" [http://www.pathologyoutlines.com/topic/cervixadenomamalignum.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/23936961 "DO"]
synonym: "Cervical Mucinous Adenocarcinoma, Gastric Type" EXACT []
synonym: "cervical mucinous adenocarcinoma, minimal deviation type" EXACT []
synonym: "Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant" EXACT []
synonym: "HPV-Independent Cervical Adenocarcinoma, Gastric-Type" EXACT []
synonym: "Human Papillomavirus-Independent Cervical Adenocarcinoma, Gastric-Type" EXACT []
xref: EFO:1000169
xref: NCI:C40206
is_a: DOID:3701 ! cervical mucinous adenocarcinoma

[Term]
id: DOID:6629
name: nipple carcinoma
def: "A breast carcinoma that is located_in the nipple. (DO)" [http://www.cancer.gov/dictionary?CdrID=45963 "DO"]
xref: NCI:C28432
is_a: DOID:3459 ! breast carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:663
name: scrotal angioma
synonym: "angioma of scrotum" EXACT []
synonym: "hemangioma of scrotum" EXACT []
synonym: "scrotal hemangioma" EXACT []
synonym: "scrotum hemangioma" EXACT []
xref: MONDO:0003951
xref: NCI:C6387
is_a: DOID:471 ! skin hemangioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:6634
name: adult central nervous system choriocarcinoma
def: "A choriocarcinoma that is located in the central nervous system of an adult. (DO)" [https://en.wikipedia.org/wiki/Choriocarcinoma "DO"]
synonym: "choriocarcinoma of the adult central nervous system" EXACT []
xref: NCI:C5793
is_a: DOID:3594 ! choriocarcinoma
is_a: DOID:3620 ! central nervous system cancer
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:6639
name: childhood CNS choriocarcinoma
def: "A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells. (DO)" [http://www.ajnr.org/content/31/10/1994 "DO"]
synonym: "choriocarcinoma of the paediatric central nervous system" EXACT []
synonym: "choriocarcinoma of the pediatric central nervous system" EXACT []
synonym: "paediatric CNS choriocarcinoma" EXACT []
synonym: "pediatric CNS choriocarcinoma" EXACT []
xref: ICD-O:M9100/3
xref: NCI:C6206
is_a: DOID:3594 ! choriocarcinoma
is_a: DOID:6052 ! central nervous system childhood germ cell tumor
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:664
name: angiokeratoma of Fordyce
synonym: "Fordyce's spot" EXACT []
synonym: "Fordyce angiokeratoma" EXACT []
synonym: "Fordyce-type angiokeratoma of scrotum" EXACT []
xref: NCI:C7752
is_a: DOID:3165 ! skin benign neoplasm
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6641
name: breast juvenile papillomatosis
def: "A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years. (DO)" [http://surgpathcriteria.stanford.edu/breast/juvpapillomatosis/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/7074576 "DO"]
synonym: "juvenile papillomatosis of the breast" EXACT []
xref: NCI:C9503
is_a: DOID:0060082 ! breast benign neoplasm
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6643
name: Baastrup's syndrome
synonym: "Baastrup syndrome" EXACT []
synonym: "Kissing spine" EXACT [ICD9CM_2006:721.5]
xref: ICD10CM:M48.2
xref: ICD10CM:M48.20
xref: ICD9CM:721.5
xref: RDO:9003746
is_a: DOID:1123 ! spondyloarthropathy
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6648
name: adult pineoblastoma
xref: NCI:C8292
is_a: DOID:5031 ! adult pineal parenchymal tumor

[Term]
id: DOID:6652
name: diffuse idiopathic skeletal hyperostosis
alt_id: MIM:106400
def: "A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine. (DO)" [http://www.mayoclinic.com/health/diffuse-idiopathic-skeletal-hyperostosis/DS00740 "DO"]
synonym: "ankylosing vertebral hyperostosis with tylosis" EXACT []
synonym: "DISH" EXACT []
synonym: "disseminated idiopathic skeletal hyperostosis" EXACT []
synonym: "Forestier's Disease" EXACT []
synonym: "Forestier disease" EXACT []
synonym: "Forestier Rotes disease" EXACT []
synonym: "Forestiers disease" EXACT []
synonym: "vertebral ankylosing hyperostoses" EXACT []
synonym: "vertebral ankylosing hyperostosis" EXACT []
xref: EFO:0007236
xref: GARD:6460
xref: ICD10CM:M48.1
xref: ICD9CM:721.6
xref: MESH:D004057
xref: NCI:C84671
is_a: DOID:182 ! calcinosis
is_a: DOID:205 ! hyperostosis
is_a: DOID:9003439 ! Spinal Osteophytosis

[Term]
id: DOID:6654
name: childhood central nervous system immature teratoma
xref: NCI:C27405
xref: RDO:9004046
is_a: DOID:6019 ! central nervous system immature teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6657
name: breast large cell neuroendocrine carcinoma
def: "A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin). (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608661/ "DO"]
xref: NCI:C40356
is_a: DOID:1800 ! neuroendocrine carcinoma
is_a: DOID:3459 ! breast carcinoma
is_a: DOID:4552 ! large cell carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:6658
name: pulmonary large cell neuroendocrine carcinoma
xref: NCI:C5672
xref: NCI:C6875
is_a: DOID:0050872 ! large cell neuroendocrine carcinoma
is_a: DOID:4556 ! lung large cell carcinoma
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:6659
name: cervical large cell neuroendocrine carcinoma
def: "A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characterized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30642849 "DO"]
xref: EFO:1000167
xref: NCI:C40214
is_a: DOID:2893 ! cervix carcinoma
is_a: DOID:4552 ! large cell carcinoma

[Term]
id: DOID:6676
name: Froelich syndrome
def: "A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity. (DO)" [https://en.wikipedia.org/wiki/Adiposogenital_dystrophy "DO"]
synonym: "adiposogenital syndrome" EXACT []
synonym: "Babinski-Froelich syndrome" EXACT []
synonym: "Froehlich's syndrome" EXACT []
synonym: "Froehlichs Syndrome" EXACT []
synonym: "Froehlich syndrome" EXACT []
synonym: "Froelich's syndrome" EXACT []
xref: GARD:6463
xref: NCI:C34625
is_a: DOID:9001888 ! Hypothalamic Obesity

[Term]
id: DOID:6677
name: diffuse infiltrative lymphocytosis syndrome
def: "A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells. (DO)" [http://en.wikipedia.org/wiki/Diffuse_infiltrative_lymphocytosis_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21295898 "DO"]
xref: NCI:C35699
xref: RDO:9004856
is_a: DOID:225 ! syndrome
is_a: DOID:526 ! human immunodeficiency virus infectious disease
is_a: DOID:9001779 ! Lymphocytosis
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:6678
name: tooth and nail syndrome
alt_id: MIM:189500
def: "A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails. (DO)" [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tooth%20and%20Nail%20Syndrome "DO"]
synonym: "dysplasia of nails with hypodontia" EXACT []
synonym: "ECTD3" EXACT []
synonym: "ECTODERMAL DYSPLASIA 3, TOOTH/NAIL TYPE" EXACT []
synonym: "ECTODERMAL DYSPLASIA 3, WITKOP TYPE" EXACT []
synonym: "hypoplastic enamel-onycholysis-hypohidrosis syndrome" EXACT []
synonym: "nail dysplasia with hypodontia" EXACT []
synonym: "TNS" EXACT []
synonym: "Witkop's syndrome" EXACT []
synonym: "Witkop syndrome" EXACT []
xref: MESH:C536736
xref: NCI:C40553
is_a: DOID:13714 ! anodontia
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:668
name: myositis ossificans
def: "A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. (DO)" [http://en.wikipedia.org/wiki/Myositis_ossificans "DO", http://www.merriam-webster.com/medlineplus/myositis "DO"]
synonym: "myisitis ossificans" EXACT []
synonym: "ossification - muscle" EXACT []
xref: MESH:D009221
xref: NCI:C3253
is_a: DOID:633 ! myositis

[Term]
id: DOID:6680
name: Capgras syndrome
def: "A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. (DO)" [http://en.wikipedia.org/wiki/Capgras_delusion "DO"]
synonym: "Capgras delusion theory" EXACT []
xref: MESH:D002194
xref: NCI:C34446
is_a: DOID:225 ! syndrome
is_a: DOID:778 ! delusional disorder

[Term]
id: DOID:6682
name: spondylolisthesis
alt_id: MIM:184200
def: "A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. (DO)" [http://en.wikipedia.org/wiki/Spondylolisthesis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001260.htm "DO", http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm "DO"]
synonym: "Spondylistheses" EXACT []
synonym: "Spondylisthesis" EXACT []
synonym: "Spondylolistheses" EXACT []
xref: EFO:0007493
xref: ICD10CM:M43.1
xref: ICD10CM:M43.10
xref: MESH:D013168
xref: NCI:C35033
is_a: DOID:0080010 ! bone structure disease
is_a: DOID:2300 ! spondylolysis

[Term]
id: DOID:6683
name: X-linked Aarskog syndrome
alt_id: MIM:227330
alt_id: MIM:305400
def: "A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm "DO"]
synonym: "Aarskog-like syndrome" EXACT []
synonym: "Faciodigitogenital Syndrome, Recessive" EXACT []
synonym: "FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER" NARROW []
synonym: "FGD1-RELATED CONDITION" EXACT []
synonym: "FGD1-RELATED DISORDERS" EXACT []
synonym: "Greig's syndrome" EXACT []
synonym: "Kuwait Type faciodigitogenital syndrome" EXACT []
synonym: "MRXS16" NARROW []
synonym: "syndromic X-linked mental retardation 16" NARROW []
xref: GARD:4775
xref: NCI:C129720
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:0111824 ! Aarskog syndrome

[Term]
id: DOID:6686
name: Achard syndrome
alt_id: MIM:100700
def: "A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. (DO)" [http://en.wikipedia.org/wiki/Achard_syndrome "DO"]
synonym: "arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet" EXACT []
synonym: "dysostoses and increased ligament laxity" EXACT []
xref: GARD:8176
xref: MESH:C536012
xref: NCI:C35809
is_a: DOID:1934 ! dysostosis
is_a: DOID:225 ! syndrome
is_a: DOID:9005077 ! Joint Instability
is_a: DOID:9005367 ! Arachnodactyly

[Term]
id: DOID:6687
name: Achenbach syndrome
synonym: "paroxysmal hematoma of the finger" EXACT []
xref: EFO:1000661
xref: NCI:C35467
is_a: DOID:225 ! syndrome
is_a: DOID:37 ! skin disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6688
name: autoimmune lymphoproliferative syndrome
alt_id: MIM:601859
def: "A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. (DO)" [http://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome "DO"]
synonym: "ALPS" EXACT []
synonym: "ALPS1A" NARROW []
synonym: "ALPS1B" NARROW []
synonym: "autoimmune lymphoproliferative syndromes" EXACT []
synonym: "Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant" EXACT []
synonym: "Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant" EXACT []
synonym: "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA" NARROW []
synonym: "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE" NARROW []
synonym: "autoimmune lymphoproliferative syndrome, type IB" NARROW []
synonym: "Canale-Smith syndrome" EXACT []
synonym: "Canale Smith syndromes" EXACT []
xref: GARD:8686
xref: ICD10CM:D89.82
xref: ICD9CM:279.41
xref: MESH:D056735
xref: NCI:C37864
xref: ORDO:3261
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:2916 ! hypersensitivity reaction type IV disease
is_a: DOID:417 ! autoimmune disease
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:6691
name: Aagenaes syndrome
alt_id: MIM:214900
def: "A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. (DO)" [http://en.wikipedia.org/wiki/Aagenaes_syndrome "DO"]
synonym: "CHLS" EXACT []
synonym: "cholestasis-edema syndrome, Norwegian type" EXACT []
synonym: "Cholestasis lymphedema syndrome" EXACT []
synonym: "LCS" EXACT []
synonym: "LCS1" EXACT []
xref: GARD:370
xref: MESH:C535330
xref: NCI:C35709
xref: ORDO:1414
is_a: DOID:13580 ! cholestasis
is_a: DOID:225 ! syndrome
is_a: DOID:4977 ! lymphedema

[Term]
id: DOID:6692
name: Barre-Lieou syndrome
def: "A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738935/ "DO"]
synonym: "cervicocranial syndrome" EXACT []
synonym: "posterior cervical sympathetic syndrome" EXACT []
synonym: "syndrome of Barre Lieou" EXACT []
xref: EFO:0007165
xref: ICD10CM:M53.0
xref: MESH:D055010
xref: NCI:C34411
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:6693
name: testicular monophasic choriocarcinoma
def: "A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9060597/ "DO"]
xref: NCI:C39935
is_a: DOID:5551 ! choriocarcinoma of the testis
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:6696
name: synchronous multifocal osteogenic sarcoma
xref: NCI:C6471
is_a: DOID:3360 ! multifocal osteogenic sarcoma

[Term]
id: DOID:6697
name: asynchronous multifocal osteogenic sarcoma
xref: NCI:C6472
is_a: DOID:3360 ! multifocal osteogenic sarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:670
name: amphetamine abuse
def: "A substance abuse that involves the recurring use of amphetamines despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Amphetamine_Abuse "DO"]
synonym: "Amphetamine Addiction" NARROW []
synonym: "Amphetamine Dependence" NARROW []
synonym: "amphetamine-related disorder" EXACT []
synonym: "amphetamine-related disorders" EXACT []
synonym: "amphetamine use disorder" EXACT []
synonym: "methamphetamine dependence" NARROW []
synonym: "METHAMPHETAMINE USE DISORDER" NARROW []
xref: EFO:0004701
xref: ICD9CM:305.7
xref: MESH:D019969
is_a: DOID:302 ! substance abuse

[Term]
id: DOID:6700
name: gastric fundus carcinoma
synonym: "cancer of fundus of stomach" RELATED []
synonym: "carcinoma of fundus of stomach" RELATED []
xref: NCI:C8398
is_a: DOID:10538 ! gastric fundus cancer
is_a: DOID:5517 ! stomach carcinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:6703
name: gastric pylorus carcinoma
synonym: "carcinoma of pylorus of stomach" EXACT []
xref: MONDO:0003971
xref: NCI:C6795
is_a: DOID:10544 ! pylorus cancer
is_a: DOID:5517 ! stomach carcinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:6705
name: gastric body carcinoma
synonym: "cancer of body of stomach" EXACT []
synonym: "carcinoma of body of stomach" EXACT []
xref: NCI:C8399
xref: RDO:9001934
is_a: DOID:5517 ! stomach carcinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:6706
name: tubular variant testicular seminoma
xref: NCI:C40959
is_a: DOID:5842 ! testis seminoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6707
name: malignant triton tumor
synonym: "malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma" EXACT []
synonym: "malignant triton tumour" EXACT []
synonym: "MPNST with rhabdomyoblastic differentiation" EXACT []
synonym: "MPNST with rhabdomyosarcoma" EXACT []
xref: NCI:C4335
is_a: DOID:5940 ! malignant peripheral nerve sheath tumor
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6712
name: anterior spinal artery syndrome
def: "A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery. (DO)" [https://en.wikipedia.org/wiki/Anterior_spinal_artery_syndrome "DO"]
synonym: "Anterior Spinal Artery Dissection" EXACT []
synonym: "Anterior spinal artery occlusion syndrome" EXACT []
xref: EFO:1000810
xref: GARD:9653
xref: ICD10CM:G83.82
xref: MESH:D020759
is_a: DOID:0050828 ! artery disease
is_a: DOID:225 ! syndrome
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9004922 ! Spinal Cord Ischemia

[Term]
id: DOID:6713
name: cerebrovascular disease
def: "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain. (DO)" [http://en.wikipedia.org/wiki/Cerebrovascular_disease "DO", http://www.ncbi.nlm.nih.gov/books/NBK378/ "DO"]
synonym: "brain vascular disorder" EXACT []
synonym: "brain vascular disorders" EXACT []
synonym: "cerebrovascular diseases" EXACT []
synonym: "cerebrovascular disorder" EXACT []
synonym: "cerebrovascular disorders" EXACT []
synonym: "cerebrovascular insufficiencies" EXACT []
synonym: "Cerebrovascular Insufficiency" EXACT []
synonym: "cerebrovascular occlusion" EXACT []
synonym: "cerebrovascular occlusions" EXACT []
synonym: "intracranial vascular disease" EXACT []
synonym: "intracranial vascular diseases" EXACT []
synonym: "intracranial vascular disorder" EXACT []
synonym: "intracranial vascular disorders" EXACT []
xref: EFO:0003763
xref: ICD10CM:I67.9
xref: ICD9CM:437.9
xref: MESH:D002561
xref: NCI:C2938
is_a: DOID:178 ! vascular disease
is_a: DOID:936 ! brain disease

[Term]
id: DOID:672
name: spleen cancer
def: "A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614769/ "DO"]
synonym: "cancer of spleen" EXACT []
synonym: "malignant Splenic tumor" EXACT [NCI2004_11_17:C3539]
synonym: "malignant tumour of spleen" EXACT [SNOMEDCT_2005_07_31:254616004]
synonym: "spleen cancers" EXACT []
synonym: "splenic cancer" EXACT []
synonym: "splenic cancers" EXACT []
xref: EFO:0007491
xref: GARD:7683
xref: ICD10CM:C26.1
xref: NCI:C3383
xref: NCI:C3539
xref: RDO:9003650
is_a: DOID:0060073 ! lymphatic system cancer
is_a: DOID:9005343 ! Splenic Neoplasms
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6721
name: Littre gland carcinoma
def: "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands. (DO)" [http://en.wikipedia.org/wiki/Urethral_gland "DO"]
xref: NCI:C39865
is_a: DOID:305 ! carcinoma
is_a: DOID:3856 ! male reproductive organ cancer

[Term]
id: DOID:6723
name: malignant type AB thymoma
synonym: "Thymoma, mixed type, malignant" EXACT [SNOMEDCT_2005_07_31:128710005]
xref: NCI:C6886
is_a: DOID:3280 ! mixed type thymoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6725
name: spinal stenosis
def: "A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord. (DO)" [http://en.wikipedia.org/wiki/Spinal_stenosis "DO", http://www.mayoclinic.com/health/spinal-stenosis/DS00515 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000441.htm "DO"]
synonym: "cervical spinal stenosis" EXACT []
synonym: "lumbar spinal stenosis" EXACT []
synonym: "spinal stenoses" EXACT []
synonym: "spinal stenosis of lumbar region" EXACT []
xref: EFO:0007490
xref: ICD10CM:M48.0
xref: ICD10CM:M48.02
xref: ICD10CM:M48.061
xref: ICD9CM:723.0
xref: ICD9CM:724.00
xref: MESH:D013130
xref: NCI:C177444
xref: NCI:C177445
is_a: DOID:0080007 ! bone deterioration disease

[Term]
id: DOID:6726
name: fibrillary astrocytoma
def: "A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. (DO)" [http://en.wikipedia.org/wiki/Fibrillary_astrocytoma "DO", http://www.cancer.gov/dictionary?CdrID=45602 "DO"]
synonym: "fibrillary astrocytic tumors" EXACT []
synonym: "fibrillary astrocytomas" EXACT []
synonym: "fibrous astrocytoma" EXACT []
xref: ICDO:9420/3
xref: NCI:C4322
is_a: DOID:3069 ! malignant astrocytoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:6727
name: colon small cell carcinoma
synonym: "Colonic small cell carcinoma" EXACT [NCI2004_11_17:C6761]
xref: NCI:C6761
xref: RDO:9003834
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:1520 ! colon carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6733
name: intrahepatic bile duct cystadenoma
def: "A bile duct cystadenoma located_in an intrahepatic bile duct. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19630118/ "DO"]
synonym: "cystadenoma of the intrahepatic bile duct" EXACT []
xref: NCI:C96835
is_a: DOID:5384 ! bile duct cystadenoma
is_a: DOID:5437 ! intrahepatic bile duct adenoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:6735
name: schwannoma of jugular foramen
synonym: "neurilemmoma of jugular foramen" EXACT []
xref: NCI:C5323
is_a: DOID:956 ! peripheral nerve schwannoma

[Term]
id: DOID:674
name: cleft palate
alt_id: MIM:119540
def: "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. (DO)" [http://en.wikipedia.org/wiki/Cleft_lip_and_palate#Cleft_palate "DO", http://ghr.nlm.nih.gov/glossary=cleftpalate "DO"]
synonym: "cleft palates" EXACT []
synonym: "CP" EXACT []
synonym: "CPI" EXACT []
synonym: "NONSYNDROMIC CLEFT PALATE" NARROW []
synonym: "palatoschisis" EXACT []
synonym: "uranostaphyloschisis" EXACT []
xref: EFO:0003920
xref: ICD10CM:Q35
xref: ICD9CM:749.0
xref: MESH:D002972
xref: MONDO:0016064
xref: NCI:C87069
is_a: DOID:0050567 ! orofacial cleft
is_a: DOID:9000066 ! Jaw Abnormalities
is_a: DOID:9001018 ! Mouth Abnormalities

[Term]
id: DOID:6740
name: cervix small cell carcinoma
synonym: "small cell carcinoma of the cervix" RELATED []
synonym: "small cell carcinoma of the Cervix Uteri" EXACT [NCI2004_11_17:C7982]
xref: EFO:1000171
xref: NCI:C7982
is_a: DOID:2893 ! cervix carcinoma
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:6741
name: bilateral breast cancer
def: "A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. (DO)" [http://www.ehow.com/facts_5923640_treatments-bilateral-breast-cancer_.html "DO"]
synonym: "bilateral breast carcinoma" EXACT []
xref: NCI:C8287
xref: RDO:9001805
is_a: DOID:3459 ! breast carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:6742
name: synchronous bilateral breast carcinoma
xref: NCI:C40370
xref: RDO:9001806
is_a: DOID:6741 ! bilateral breast cancer
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:6752
name: internal auditory canal lipoma
def: "An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19813171 "DO"]
synonym: "lipoma of the internal auditory canal" EXACT []
xref: NCI:C5452
is_a: DOID:0080619 ! auditory system benign neoplasm
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6755
name: amyloid tumor
synonym: "amyloid neoplasm" EXACT []
synonym: "amyloid tumour" EXACT []
is_a: DOID:3350 ! mesenchymal cell neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:6758
name: chest wall lymphoma
def: "A thoracic cancer that is located_in the chest wall. (DO)" [http://en.wikipedia.org/wiki/Chest_wall "DO"]
synonym: "chest wall cancer" EXACT []
synonym: "lymphoma of chest wall" EXACT []
synonym: "lymphoma of the chest wall" EXACT []
synonym: "malignant neoplasm of chest wall" EXACT []
synonym: "malignant tumor of chest wall" EXACT []
xref: NCI:C4580
xref: NCI:C6712
is_a: DOID:0060058 ! lymphoma
is_a: DOID:5093 ! thoracic cancer
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:6759
name: bone lymphoma
def: "A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. (DO)" [http://lymphoma.about.com/od/nonhodgkinlymphoma/qt/bonelymphoma.htm "DO", https://orthoinfo.aaos.org/en/diseases--conditions/primary-lymphoma-of-bone "DO"]
synonym: "lymphoma of bone" EXACT []
synonym: "lymphoma of the bone" EXACT []
xref: NCI:C6620
is_a: DOID:0060058 ! lymphoma
is_a: DOID:184 ! bone cancer

[Term]
id: DOID:676
name: juvenile rheumatoid arthritis
alt_id: MIM:618795
def: "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. (DO)" [http://www.mayoclinic.com/health/juvenile-rheumatoid-arthritis/DS00018 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000451.htm "DO", http://www.umm.edu/ency/article/000451.htm "DO"]
synonym: "acute juvenile rheumatoid arthritis" NARROW []
synonym: "enthesitis-related juvenile idiopathic arthritis" NARROW []
synonym: "extended oligoarticular juvenile idiopathic arthritis" NARROW []
synonym: "juvenile arthritis" EXACT []
synonym: "juvenile chronic arthritis" NARROW []
synonym: "juvenile chronic polyarthritis" NARROW []
synonym: "juvenile enthesitis-related arthritis" NARROW []
synonym: "juvenile idiopathic arthritis" NARROW []
synonym: "juvenile oligoarthritis" NARROW []
synonym: "Juvenile-Onset Still's Disease" EXACT []
synonym: "Juvenile Onset Still Disease" EXACT []
synonym: "Juvenile Onset Stills Disease" EXACT []
synonym: "juvenile polyarthritis, rheumatoid factor negative" NARROW []
synonym: "juvenile polyarthritis, rheumatoid factor positive" NARROW []
synonym: "juvenile psoriatic arthritis" NARROW []
synonym: "juvenile systemic arthritis" NARROW []
synonym: "monarticular juvenile rheumatoid arthritis" NARROW []
synonym: "pauciarticular juvenile arthritis" NARROW []
synonym: "pauciarticular onset juvenile chronic arthritis" NARROW []
synonym: "polyarticular juvenile idiopathic arthritis" NARROW []
synonym: "polyarticular juvenile idiopathic arthritis, rheumatoid factor negative" NARROW []
synonym: "polyarticular juvenile idiopathic arthritis, rheumatoid factor positive" NARROW []
synonym: "psoriasis-related juvenile idiopathic arthritis" NARROW []
synonym: "Still's disease" EXACT []
synonym: "unspecified juvenile idiopathic arthritis" NARROW []
xref: EFO:0002609
xref: EFO:0009730
xref: EFO:0009731
xref: EFO:0009732
xref: EFO:0009733
xref: EFO:0009734
xref: EFO:0009746
xref: EFO:1002007
xref: EFO:1002020
xref: GARD:3067
xref: ICD10CM:M08.4
xref: ICD9CM:714.3
xref: ICD9CM:714.31
xref: ICD9CM:714.32
xref: ICD9CM:714.33
xref: MESH:D001171
xref: NCI:C26979
xref: NCI:C61279
xref: ORDO:92
is_a: DOID:7148 ! rheumatoid arthritis

[Term]
id: DOID:6760
name: lung lymphoma
synonym: "lymphoma of lung" EXACT []
synonym: "pulmonary lymphoma" EXACT []
is_a: DOID:0060058 ! lymphoma
is_a: DOID:1324 ! lung cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6762
name: sternum lymphoma
synonym: "lymphoma of sternum" EXACT []
synonym: "lymphoma of the sternum" EXACT []
xref: NCI:C6716
is_a: DOID:0060058 ! lymphoma
is_a: DOID:5090 ! sternum cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6774
name: polyembryoma of the ovary
def: "An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies. (DO)" [https://en.wikipedia.org/wiki/Polyembryoma "DO"]
xref: NCI:C39990
xref: RDO:9005073
is_a: DOID:5351 ! ovarian primitive germ cell tumor
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:6776
name: breast myoepithelial carcinoma
def: "A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840516/ "DO"]
xref: NCI:C40395
is_a: DOID:3004 ! breast myoepithelial neoplasm
is_a: DOID:3459 ! breast carcinoma
is_a: DOID:4838 ! myoepithelial carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:6777
name: villoglandular endometrial endometrioid adenocarcinoma
def: "An endometrial adenocarcinoma that is characterized by papillary differentiation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8179072 "DO"]
xref: NCI:C27846
xref: RDO:9002082
is_a: DOID:2870 ! endometrial adenocarcinoma
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:678
name: progressive supranuclear palsy
alt_id: MIM:601104
def: "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. (DO)" [http://en.wikipedia.org/wiki/Progressive_supranuclear_palsy "DO", http://www.ninds.nih.gov/disorders/psp/psp.htm "DO"]
synonym: "Progressive Supranuclear Ophthalmoplegia" EXACT []
synonym: "progressive supranuclear palsies" EXACT []
synonym: "progressive supranuclear palsy 1" EXACT []
synonym: "PSNP1" EXACT []
synonym: "PSP" EXACT []
synonym: "Richardson's Syndrome" EXACT []
synonym: "Richardson Syndrome" EXACT []
synonym: "Steele Richardson Olszewski Disease" EXACT []
synonym: "Steele Richardson Olszewski Syndrome" EXACT []
xref: EFO:0002512
xref: GARD:7471
xref: ICD10CM:G23.1
xref: MESH:D013494
xref: MONDO:0019037
xref: NCI:C85028
xref: ORDO:683
is_a: DOID:480 ! movement disease
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:679 ! basal ganglia disease
is_a: DOID:680 ! tauopathy

[Term]
id: DOID:6785
name: desmoplastic small round cell tumor
def: "A small cell sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass. (DO)" [https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor "DO", https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/desmoplastic-small-round-cell-tumors "DO"]
synonym: "desmoplastic small cell tumor" EXACT []
synonym: "desmoplastic small-cell tumors" EXACT []
synonym: "desmoplastic small round-cell neoplasm" EXACT []
xref: EFO:1000895
xref: GARD:6265
xref: ICDO:8806/3
xref: MESH:D058405
xref: MONDO:0019373
xref: NCI:C8300
is_a: DOID:3098 ! small cell sarcoma
created_by: mtutaj
creation_date: 2020-08-23T00:00:00Z

[Term]
id: DOID:6786
name: childhood botryoid rhabdomyosarcoma
def: "A botryoid rhabdomyosarcoma that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8088765 "DO"]
synonym: "childhood sarcoma botryoides" EXACT []
xref: ICD-O:M8910/3
xref: NCI:C35574
is_a: DOID:3255 ! botryoid rhabdomyosarcoma

[Term]
id: DOID:6787
name: childhood vagina botryoid rhabdomyosarcoma
def: "A vagina botryoid rhabdomyosarcoma that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27870705 "DO"]
synonym: "vaginal childhood sarcoma Botryoides" EXACT []
xref: NCI:C35556
is_a: DOID:6788 ! vagina botryoid rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6788
name: vagina botryoid rhabdomyosarcoma
def: "A botryoid rhabdomyosarcoma that is located_in the vagina. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15887839 "DO"]
xref: NCI:C40268
is_a: DOID:1901 ! vagina sarcoma
is_a: DOID:3255 ! botryoid rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6789
name: vulvar childhood botryoid-type embryonal rhabdomyosarcoma
synonym: "childhood sarcoma Botryoides of the Vulva" EXACT []
xref: NCI:C36098
is_a: DOID:2096 ! vulvar sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:679
name: basal ganglia disease
def: "A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits. (DO)" [https://en.wikipedia.org/wiki/Basal_ganglia_disease "DO"]
synonym: "basal ganglia diseases" EXACT []
synonym: "Basal Ganglia Disorder" EXACT []
synonym: "basal ganglia disorders" EXACT []
synonym: "Extrapyramidal Disorder" EXACT []
synonym: "Extrapyramidal Disorders" EXACT []
synonym: "Lenticulostriate Disorder" EXACT []
synonym: "lenticulostriate disorders" EXACT []
xref: EFO:0009533
xref: MESH:D001480
is_a: DOID:936 ! brain disease

[Term]
id: DOID:680
name: tauopathy
def: "A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. (DO)" [http://en.wikipedia.org/wiki/Tauopathy "DO"]
synonym: "tauopathies" EXACT []
xref: EFO:0005815
xref: MESH:D024801
is_a: DOID:1289 ! neurodegenerative disease

[Term]
id: DOID:6804
name: colon Kaposi sarcoma
def: "A sarcoma of colon that is located_in the colon. (DO)" [http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp "DO"]
synonym: "Colonic Kaposi's sarcoma" EXACT []
xref: NCI:C5516
xref: RDO:9002030
is_a: DOID:5260 ! colon sarcoma
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:681
name: progressive bulbar palsy
def: "A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" [MESH:D010244]
synonym: "bulbar palsies" EXACT []
synonym: "Bulbar Palsy" EXACT []
synonym: "bulbar paralyses" EXACT []
synonym: "Bulbar Paralysis" EXACT []
synonym: "progressive bulbar palsies" EXACT []
xref: EFO:0003783
xref: GARD:10928
xref: ICD10CM:G12.22
xref: ICD9CM:335.22
xref: MESH:D010244
xref: MONDO:0008890
xref: NCI:C85026
is_a: DOID:231 ! motor neuron disease

[Term]
id: DOID:6811
name: juvenile pilocytic astrocytoma
def: "A pilocytic astrocytoma that occurs during adolescence. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27081 "DO"]
synonym: "juvenile pilocytic astrocytomas" EXACT []
xref: NCI:C27081
is_a: DOID:4851 ! pilocytic astrocytoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:6812
name: childhood pilocytic astrocytoma
def: "A pilocytic astrocytoma that occurs during childhood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4048 "DO"]
synonym: "pediatric pilocytic astrocytoma" EXACT []
xref: ICD-O:M9421/1
xref: NCI:C4048
is_a: DOID:4851 ! pilocytic astrocytoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:682
name: compartment syndrome
def: "Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE." [MESH:D003161]
synonym: "compartmental syndrome" EXACT []
synonym: "compartment syndromes" EXACT []
xref: GARD:6141
xref: ICD10CM:T79.A0
xref: ICD9CM:958.90
xref: MESH:D003161
xref: NCI:C118422
is_a: DOID:0080000 ! muscular disease
is_a: DOID:178 ! vascular disease
is_a: DOID:225 ! syndrome
is_a: DOID:326 ! ischemia

[Term]
id: DOID:6823
name: pancreatoblastoma
xref: EFO:1000446
xref: GARD:4210
xref: ICDO:8971/3
xref: MESH:C537162
xref: NCI:C4265
is_a: DOID:4905 ! pancreatic carcinoma

[Term]
id: DOID:6827
name: pancreatic solid pseudopapillary carcinoma
def: "A pancreatic carcinoma that is characterized by its papillary architecture. (DO)" [http://en.wikipedia.org/wiki/Solid_pseudopapillary_tumour "DO", https://www.ncbi.nlm.nih.gov/pubmed/19268906 "DO"]
xref: NCI:C5728
is_a: DOID:4905 ! pancreatic carcinoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:683
name: motor neuritis
synonym: "motor neuritides" EXACT []
synonym: "peripheral motor neuropathy" EXACT []
xref: NCI:C3500
is_a: DOID:1803 ! neuritis
is_a: DOID:231 ! motor neuron disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:6837
name: rete ovarii adenoma
def: "A rete ovarii benign neoplasm that derives_from glandular epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9416702 "DO"]
xref: NCI:C40018
is_a: DOID:4895 ! rete ovarii benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6838
name: rete ovarii cystadenofibroma
def: "A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21139896 "DO"]
xref: NCI:C40020
is_a: DOID:4895 ! rete ovarii benign neoplasm
is_a: DOID:5482 ! cystadenofibroma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:6839
name: breast intraductal proliferative lesion
def: "An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation. (DO)" [https://www.hindawi.com/journals/ijso/2012/501904/ "DO"]
synonym: "intraductal proliferative lesion" EXACT []
xref: NCI:C27942
is_a: DOID:3013 ! intraductal breast benign neoplasm

[Term]
id: DOID:684
name: hepatocellular carcinoma
alt_id: MIM:114550
def: "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver. (DO)" [http://cancergenome.nih.gov/cancersselected/LiverHepatocellularCarcinoma "DO", http://en.wikipedia.org/wiki/Hepatocellular_carcinoma "DO", http://www.omim.org/entry/114550 "DO"]
synonym: "adult liver cancer" EXACT []
synonym: "adult liver cancers" EXACT []
synonym: "Childhood Hepatocellular Carcinoma" EXACT []
synonym: "HCC" EXACT []
synonym: "hepatitis B virus induced hepatocellular carcinoma" NARROW []
synonym: "hepatitis C virus induced hepatocellular carcinoma" NARROW []
synonym: "hepatitis virus-related hepatocellular carcinoma" NARROW []
synonym: "HEPATOBLASTOMA" NARROW []
synonym: "HEPATOBLASTOMA CAUSED BY SOMATIC MUTATION" NARROW []
synonym: "Hepatocellular Cancer" EXACT []
synonym: "hepatocellular cancers" EXACT []
synonym: "Hepatocellular Carcinoma, Childhood Type, Somatic" EXACT []
synonym: "hepatocellular carcinomas" EXACT []
synonym: "hepatoma" EXACT []
synonym: "hepatomas" EXACT []
synonym: "LCC" EXACT []
synonym: "liver cell carcinoma" EXACT []
synonym: "liver cell carcinomas" EXACT []
xref: EFO:0000182
xref: EFO:0000189
xref: EFO:0008503
xref: EFO:0008504
xref: EFO:0008505
xref: ICDO:8170/3
xref: ICD-O:M8170/3
xref: MESH:D006528
xref: NCI:C129298
xref: NCI:C24029
xref: NCI:C3099
xref: NCI:C38756
xref: NCI:C60416
xref: ORDO:88673
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:686 ! liver carcinoma

[Term]
id: DOID:6841
name: flat ductal epithelial atypia
def: "A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424157/ "DO"]
xref: NCI:C36086
is_a: DOID:6839 ! breast intraductal proliferative lesion

[Term]
id: DOID:6844
name: kidney pelvis sarcomatoid transitional cell carcinoma
synonym: "sarcomatoid transitional cell carcinoma of renal pelvis" EXACT []
xref: NCI:C6186
is_a: DOID:0050620 ! infiltrating renal pelvis transitional cell carcinoma
is_a: DOID:4014 ! sarcomatoid transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:6845
name: infiltrating ureter transitional cell carcinoma
xref: NCI:C39879
xref: RDO:9002113
is_a: DOID:6888 ! ureter transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:6846
name: familial melanoma
alt_id: DOID:9000881
alt_id: MIM:608035
alt_id: MIM:609048
alt_id: MIM:612263
alt_id: MIM:613099
alt_id: MIM:613972
alt_id: MIM:614456
alt_id: MIM:615134
alt_id: MIM:615848
synonym: "CMM" EXACT []
synonym: "CMM1" NARROW []
synonym: "CMM10" NARROW []
synonym: "CMM2" NARROW []
synonym: "CMM3" NARROW []
synonym: "CMM4" NARROW []
synonym: "CMM5" NARROW []
synonym: "CMM6" NARROW []
synonym: "CMM7" NARROW []
synonym: "CMM8" NARROW []
synonym: "CMM9" NARROW []
synonym: "cutaneous malignant melanoma 10" NARROW []
synonym: "cutaneous malignant melanoma 5" NARROW []
synonym: "cutaneous malignant melanoma 6" NARROW []
synonym: "cutaneous malignant melanoma 9" NARROW []
synonym: "cutaneous malignant melanoma, dominant" NARROW []
synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 1" RELATED []
synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 10" RELATED []
synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 2" RELATED []
synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 3" RELATED []
synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 4" RELATED []
synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 5" RELATED []
synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 6" RELATED []
synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 7" RELATED []
synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 8" RELATED []
synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 9" RELATED []
synonym: "DNS" EXACT []
synonym: "hereditary cutaneous melanoma" EXACT []
synonym: "hereditary dysplastic nevus syndrome" EXACT []
synonym: "melanoma and renal cell carcinoma, susceptibility to" RELATED []
synonym: "MLM" EXACT []
synonym: "TYR-RELATED CONDITION" BROAD []
xref: MIM:155600
xref: MIM:155601
xref: MIM:PS155600
xref: NCI:C8498
is_a: DOID:1909 ! melanoma
is_a: DOID:8923 ! skin melanoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:6847
name: adult botryoid rhabdomyosarcoma
def: "A botryoid rhabdomyosarcoma that is present in an adult. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17955586 "DO"]
xref: NCI:C36099
is_a: DOID:3255 ! botryoid rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6848
name: adult vagina botryoid rhabdomyosarcoma
def: "A vagina botryoid rhabdomyosarcoma that presents in adulthood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2190875 "DO"]
xref: NCI:C40267
is_a: DOID:6788 ! vagina botryoid rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6854
name: ethmoid sinus ectopic meningioma
synonym: "primary ectopic meningioma of ethmoidal sinus" EXACT []
xref: NCI:C5309
is_a: DOID:1364 ! ethmoidal sinus benign neoplasm
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6856
name: pineal region teratoma
alt_id: MIM:273120
synonym: "pineal teratoma" EXACT []
synonym: "teratoma of pineal area" EXACT []
xref: MESH:C537401
xref: NCI:C6753
is_a: DOID:1660 ! malignant pineal area germ cell neoplasm
is_a: DOID:3307 ! teratoma

[Term]
id: DOID:6857
name: pineal region mature teratoma
def: "A mature teratoma that is located_in the pineal region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28236067 "DO"]
synonym: "mature teratoma of the pineal area" EXACT []
xref: NCI:C6754
is_a: DOID:5566 ! mature teratoma
is_a: DOID:6856 ! pineal region teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:6858
name: pineal region immature teratoma
synonym: "atypical pineal teratoma" EXACT []
xref: NCI:C6755
is_a: DOID:6856 ! pineal region teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:686
name: liver carcinoma
def: "A liver cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO", http://en.wikipedia.org/wiki/Liver_cancer "DO"]
synonym: "Calcifying Nested Epithelial Stromal Tumor of the Liver" NARROW []
synonym: "liver and intrahepatic bile duct carcinoma" BROAD []
xref: EFO:0000182
xref: EFO:0000188
xref: EFO:1000149
xref: NCI:C7927
is_a: DOID:305 ! carcinoma
is_a: DOID:3571 ! liver cancer
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:6865
name: oxyphilic endometrial endometrioid adenocarcinoma
def: "An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells. (DO)" [https://www.researchgate.net/publication/15385398_Endometrioid_Carcinoma_of_the_Ovary_and_Endometrium_Oxyphilic_Cell_Type "DO"]
xref: NCI:C27849
xref: RDO:9002083
is_a: DOID:2870 ! endometrial adenocarcinoma
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:6867
name: mediastinal gray zone lymphoma
xref: NCI:C37870
xref: RDO:9004797
is_a: DOID:5822 ! gray zone lymphoma
is_a: DOID:6868 ! mediastinal malignant lymphoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6868
name: mediastinal malignant lymphoma
synonym: "Lymphoma of mediastinum" EXACT [NCI2004_11_17:C6633]
xref: NCI:C6633
xref: RDO:9004798
is_a: DOID:0060058 ! lymphoma
is_a: DOID:5559 ! mediastinal cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6869
name: parasagittal meningioma
xref: NCI:C4960
xref: RDO:9004710
is_a: DOID:6114 ! cerebral convexity meningioma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:687
name: hepatoblastoma
def: "A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed)" [MESH:D018197]
synonym: "embryonal hepatoblastoma" NARROW []
synonym: "HBL" EXACT []
synonym: "hepatoblastomas" EXACT []
xref: EFO:1000292
xref: GARD:2657
xref: ICD10CM:C22.2
xref: ICDO:8970/3
xref: MESH:D018197
xref: NCI:C3728
is_a: DOID:3571 ! liver cancer
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:6871
name: spinal cord neuroblastoma
synonym: "neuroblastoma of the spinal cord" EXACT []
xref: NCI:C5155
is_a: DOID:6872 ! spinal cord primitive neuroectodermal neoplasm
is_a: DOID:769 ! neuroblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:6872
name: spinal cord primitive neuroectodermal neoplasm
synonym: "spinal cord PNET" EXACT []
xref: EFO:1000545
xref: NCI:C5406
is_a: DOID:0060103 ! central nervous system embryonal tumor
is_a: DOID:5612 ! spinal cancer
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:6873
name: skin tag
def: "A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease. (DO)" [https://en.wikipedia.org/wiki/Skin_tag "DO"]
synonym: "cutaneous tag" EXACT []
synonym: "fibroepithelial polyp" EXACT []
synonym: "fibroepithelial polyp of skin" EXACT []
synonym: "soft fibroma" EXACT []
xref: NCI:C3337
xref: NCI:C3374
is_a: DOID:2053 ! reactive cutaneous fibrous lesion
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:688
name: embryonal cancer
def: "A germ cell cancer that is associated with an embryo. (DO)" [http://www.cancer.gov/dictionary/?CdrID=44250 "DO"]
xref: EFO:0005784
xref: NCI:C3264
is_a: DOID:2994 ! germ cell cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:6880
name: small bowel fibrosarcoma
def: "A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel. (DO)" [http://en.wikipedia.org/wiki/Fibrosarcoma "DO"]
synonym: "Fibrosarcoma, small Intestine" EXACT [NCI2004_11_17:C5336]
xref: NCI:C5336
xref: RDO:9004195
is_a: DOID:3355 ! fibrosarcoma
is_a: DOID:5272 ! small intestinal sarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:6886
name: ureter small cell carcinoma
synonym: "ureteral small cell carcinoma" EXACT []
xref: EFO:1000610
xref: NCI:C6176
xref: RDO:9003836
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:4939 ! ureter carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6888
name: ureter transitional cell carcinoma
synonym: "transitional cell carcinoma of ureter" EXACT []
synonym: "ureteral urothelial cell carcinoma" EXACT []
xref: EFO:1001973
xref: NCI:C4830
xref: RDO:9002112
is_a: DOID:2671 ! transitional cell carcinoma
is_a: DOID:4939 ! ureter carcinoma
is_a: DOID:9000614 ! upper tract urothelial carcinoma
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:6898
name: ovarian seromucinous carcinoma
alt_id: DOID:6899
def: "An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24643255 "DO"]
synonym: "malignant ovarian mixed epithelial neoplasm" EXACT []
synonym: "mixed epithelial carcinoma of ovary" EXACT []
synonym: "ovary mixed epithelial carcinoma" EXACT []
xref: EFO:1000358
xref: NCI:C40090
is_a: DOID:4001 ! ovarian carcinoma
is_a: DOID:6211 ! mixed epithelial tumor of ovary

[Term]
id: DOID:6901
name: familiar ovarian carcinoma
synonym: "familial ovarian carcinoma" EXACT []
xref: NCI:C36102
xref: RDO:9001900
is_a: DOID:4001 ! ovarian carcinoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:6903
name: eye lymphoma
def: "A lymphoma by site that is manifested in immune system cells called lymphocytes. (DO)" [http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_eye_cancer_74.asp "DO"]
synonym: "malignant lymphoma of eye" EXACT []
xref: NCI:C35690
is_a: DOID:0060058 ! lymphoma
is_a: DOID:2174 ! ocular cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6906
name: glomangiomatosis
def: "A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28656356 "DO"]
xref: ICDO:8711/1
xref: NCI:C27496
is_a: DOID:5238 ! benign perivascular tumor

[Term]
id: DOID:6917
name: predominantly cortical thymoma
synonym: "Lymphocyte-Predominant Thymoma" EXACT []
synonym: "Thymoma, organoid" EXACT []
synonym: "Thymoma Type B1" EXACT []
xref: EFO:1000584
xref: NCI:C6887
is_a: DOID:3282 ! thymoma type B
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:6925
name: peroneal nerve paralysis
def: "Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" [MESH:D020427]
synonym: "common peroneal neuropathies" EXACT []
synonym: "Common Peroneal Neuropathy" EXACT []
synonym: "Deep Peroneal Neuropathies" EXACT []
synonym: "Deep Peroneal Neuropathy" EXACT []
synonym: "External Popliteal Neuropathies" EXACT []
synonym: "External Popliteal Neuropathy" EXACT []
synonym: "Fibular Nerve Disease" EXACT []
synonym: "Fibular Nerve Diseases" EXACT []
synonym: "Fibular Neuropathies" EXACT []
synonym: "Fibular Neuropathy" EXACT []
synonym: "Lateral Popliteal Neuropathies" EXACT []
synonym: "Lateral Popliteal Neuropathy" EXACT []
synonym: "Peroneal Nerve Disease" EXACT []
synonym: "Peroneal Nerve Diseases" EXACT []
synonym: "Peroneal nerve palsy" EXACT []
synonym: "Peroneal Nerve Paralyses" EXACT []
synonym: "Peroneal Neuropathies" EXACT []
synonym: "Peroneal Neuropathy" EXACT []
synonym: "Superficial Peroneal Neuropathies" EXACT []
synonym: "superficial peroneal neuropathy" EXACT []
xref: EFO:1001102
xref: MESH:D020427
xref: NCI:C27061
is_a: DOID:1188 ! mononeuropathy

[Term]
id: DOID:6929
name: retinal edema
synonym: "retinal edemas" EXACT []
is_a: DOID:1210 ! optic neuritis
is_a: DOID:5679 ! retinal disease

[Term]
id: DOID:693
name: dental enamel hypoplasia
def: "An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors." [MESH:D003744]
synonym: "enamel ageneses" EXACT []
synonym: "Enamel Agenesis" EXACT []
synonym: "Enamel Hypoplasia" EXACT []
synonym: "Enamel Hypoplasias" EXACT []
synonym: "Hypoplastic Enamel" EXACT []
synonym: "molar incisor hypomineralization" EXACT []
xref: EFO:0005321
xref: EFO:1001304
xref: MESH:D003744
xref: NCI:C34529
is_a: DOID:214 ! teeth hard tissue disease
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:6931
name: papillary extrahepatic bile duct adenocarcinoma
is_a: DOID:3112 ! papillary adenocarcinoma
is_a: DOID:3495 ! extrahepatic bile duct adenocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:6932
name: urinary bladder inverted papilloma
xref: NCI:C39859
is_a: DOID:0050623 ! bladder benign neoplasm
is_a: DOID:6933 ! bladder transitional cell papilloma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:6933
name: bladder transitional cell papilloma
synonym: "bladder papilloma" EXACT []
synonym: "transitional cell papilloma of bladder" EXACT []
synonym: "urinary bladder urothelial papilloma" EXACT []
synonym: "urothelial papilloma" EXACT []
xref: NCI:C3842
xref: NCI:C39858
is_a: DOID:5432 ! bladder papillary transitional cell neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6934
name: urethra inverted papilloma
synonym: "inverted papilloma of the urethra" EXACT []
xref: NCI:C6173
is_a: DOID:2140 ! urethral urothelial papilloma
is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:6935
name: ureter inverted papilloma
synonym: "ureteral inverted papilloma" EXACT []
xref: NCI:C6174
is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm
is_a: DOID:6936 ! ureter urothelial papilloma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6936
name: ureter urothelial papilloma
xref: NCI:C6160
is_a: DOID:11885 ! ureteral benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6938
name: childhood intraocular retinoblastoma
def: "An intraocular retinoblastoma that effects children. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29737052 "DO"]
synonym: "pediatric intraocular retinoblastoma" EXACT []
xref: NCI:C9047
is_a: DOID:4653 ! intraocular retinoblastoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:6939
name: childhood brain meningioma
def: "A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. (DO)" [https://en.wikipedia.org/wiki/Meningioma "DO", https://www.ncbi.nlm.nih.gov/pubmed/15886506 "DO"]
synonym: "pediatric meningioma of brain" EXACT []
xref: NCI:C6253
xref: RDO:9003546
is_a: DOID:0060106 ! brain meningioma
is_a: DOID:4593 ! childhood meningioma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6943
name: vulvar inverted follicular keratosis
def: "An inverted follicular keratosis that is located_in the vulva. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11109167 "DO"]
xref: EFO:1000778
xref: NCI:C40291
xref: RDO:9003564
is_a: DOID:6944 ! vulvar seborrheic keratosis
is_a: DOID:6945 ! inverted follicular keratosis
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6944
name: vulvar seborrheic keratosis
synonym: "seborrheic keratosis of vulva" EXACT []
xref: EFO:1000779
xref: NCI:C6375
is_a: DOID:0060109 ! vulvar benign neoplasm
is_a: DOID:6498 ! seborrheic keratosis
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6945
name: inverted follicular keratosis
synonym: "inverted folicular keratosis" EXACT []
xref: EFO:1000717
xref: NCI:C9007
is_a: DOID:6498 ! seborrheic keratosis
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:6947
name: sphenoidal sinus benign neoplasm
synonym: "neoplasm of sphenoidal sinus" EXACT []
synonym: "tumor of sphenoidal sinus" EXACT []
xref: NCI:C6792
is_a: DOID:1350 ! paranasal sinus benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:6948
name: malignant gastric teratoma
def: "A malignant teratoma that has_material_basis_in gastric tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2067992 "DO"]
synonym: "malignant teratoma of stomach" EXACT []
xref: NCI:C5256
xref: RDO:9001925
is_a: DOID:4716 ! malignant gastric germ cell tumor
is_a: DOID:5561 ! gastric teratoma
is_a: DOID:5563 ! malignant teratoma
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:6950
name: combat disorder
def: "An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress. (DO)" [http://neurolex.org/wiki/Category\:Combat_Disorder "DO"]
synonym: "combat disorders" EXACT []
synonym: "combat neuroses" EXACT []
synonym: "Combat Neurosis" EXACT []
synonym: "Combat Stress Disorder" EXACT []
synonym: "Combat Stress Disorders" EXACT []
synonym: "Shell Shock" EXACT []
synonym: "Shell Shocks" EXACT []
synonym: "War Neuroses" EXACT []
synonym: "war neurosis" EXACT []
xref: MESH:D003130
is_a: DOID:6088 ! acute stress disorder

[Term]
id: DOID:6951
name: telangiectatic osteogenic sarcoma
synonym: "telangiectatic osteosarcoma" EXACT []
xref: NCI:C3902
is_a: DOID:7602 ! conventional osteosarcoma

[Term]
id: DOID:6958
name: aleukemic monocytic leukemia cutis
def: "An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C5630 "DO"]
xref: NCI:C5630
is_a: DOID:6003 ! aleukemic leukemia cutis
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6959
name: rectal cloacogenic carcinoma
synonym: "transitional zone carcinoma of rectum" EXACT []
xref: NCI:C5555
is_a: DOID:5528 ! rectum squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:6961
name: Bartholin's gland squamous cell carcinoma
def: "A Bartholin's gland carcinoma that derives_from squamous epithelial cells. (DO)" [https://en.wikipedia.org/wiki/Bartholin_gland_carcinoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/22369423 "DO"]
synonym: "Bartholin gland squamous cell carcinoma" EXACT []
xref: EFO:1000104
xref: NCI:C40293
is_a: DOID:2101 ! vulva squamous cell carcinoma
is_a: DOID:3999 ! Bartholin's gland carcinoma
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:6969
name: acute canaliculitis
def: "An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal caniculi, has_symptom epiphora, has_symptom conjunctivitis, has_symptom eyelid mattering and has_symptom purulent discharge. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16845316 "DO"]
synonym: "acute lacrimal canaliculitis" EXACT []
xref: ICD10CM:H04.33
xref: ICD9CM:375.31
is_a: DOID:6970 ! acute inflammation of lacrimal passage
is_a: DOID:9003523 ! Canaliculitis
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6970
name: acute inflammation of lacrimal passage
xref: ICD10CM:H04.3
xref: ICD9CM:375.3
is_a: DOID:1400 ! lacrimal apparatus disease
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:6975
name: bladder urothelial papillary carcinoma
synonym: "urothelial papillary carcinoma of the bladder" EXACT []
xref: NCI:C7383
is_a: DOID:3113 ! papillary carcinoma
is_a: DOID:4006 ! bladder urothelial carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:6976
name: micropapillary variant infiltrating bladder urothelial carcinoma
xref: EFO:0008512
xref: NCI:C27202
is_a: DOID:6477 ! invasive bladder transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:6977
name: pancreatic cholera
synonym: "excessive vasoactive intestinal peptide secretion" EXACT []
synonym: "pancreatic WDHA syndrome" EXACT []
synonym: "Verner-Morrison syndrome" EXACT []
xref: NCI:C3488
is_a: DOID:1428 ! endocrine pancreas disease
is_a: DOID:5574 ! vipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:698
name: dentin sensitivity
alt_id: RDO:0005340
def: "Pain associated with exposed DENTIN surfaces of the teeth." [MESH:D003807]
synonym: "Dentine Hypersensitivities" EXACT []
synonym: "Dentine Hypersensitivity" EXACT []
synonym: "Dentine Sensitivities" EXACT []
synonym: "Dentine Sensitivity" EXACT []
synonym: "Dentin Hypersensitivities" EXACT []
synonym: "Dentin Hypersensitivity" EXACT []
synonym: "Dentin Sensitivities" EXACT []
synonym: "sensitive dentin" EXACT []
synonym: "Tooth Sensitivities" EXACT []
synonym: "Tooth Sensitivity" EXACT []
xref: MESH:D003807
xref: NCI:C50778
is_a: DOID:1091 ! tooth disease
is_a: DOID:214 ! teeth hard tissue disease

[Term]
id: DOID:6988
name: peripheral epithelioid sarcoma
xref: NCI:C27473
is_a: DOID:6193 ! epithelioid sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:699
name: mitochondrial myopathy
alt_id: MIM:251900
def: "A myopathy that is characterized by mitochondrial dysfunction. (DO)" [http://en.wikipedia.org/wiki/Mitochondrial_myopathies "DO", http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm "DO"]
synonym: "Luft's Disease" EXACT []
synonym: "Luft disease" EXACT []
synonym: "Lufts Disease" EXACT []
synonym: "megaconial myopathies" EXACT []
synonym: "Megaconial Myopathy" EXACT []
synonym: "Mitochondrial Myopathies" EXACT []
synonym: "MITOCHONDRIAL MYOPATHY, ISOLATED" NARROW []
synonym: "MYOPATHY, MITOCHONDRIAL, LATE-ONSET" NARROW []
synonym: "MYOTONIC DYSTROPHY-LIKE MYOPATHY" NARROW []
synonym: "Pleoconial Myopathies" EXACT []
synonym: "pleoconial myopathy" EXACT []
synonym: "skeletal myopathy, responsive to riboflavin" NARROW []
xref: MESH:D017240
xref: NCI:C101328
is_a: DOID:423 ! myopathy
is_a: DOID:9003594 ! Mitochondrial Cytopathy

[Term]
id: DOID:6992
name: intraocular mixed cell type melanoma
synonym: "mixed cell type Uveal melanoma" EXACT []
xref: NCI:C7989
xref: RDO:9001856
is_a: DOID:1752 ! ocular melanoma

[Term]
id: DOID:6993
name: iris mixed cell melanoma
xref: NCI:C6101
is_a: DOID:6992 ! intraocular mixed cell type melanoma
is_a: DOID:6994 ! malignant iris melanoma

[Term]
id: DOID:6994
name: malignant iris melanoma
synonym: "malignant melanoma of iris" EXACT []
synonym: "melanoma of the iris" EXACT []
xref: NCI:C9088
is_a: DOID:3478 ! iris cancer

[Term]
id: DOID:6996
name: intermediate cell type choroid melanoma
synonym: "mixed cell melanoma of Choroid" EXACT []
xref: NCI:C6100
is_a: DOID:6438 ! malignant choroid melanoma
is_a: DOID:6992 ! intraocular mixed cell type melanoma
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:6997
name: intermediate cell type ciliary body melanoma
xref: NCI:C6118
is_a: DOID:6524 ! malignant ciliary body melanoma
is_a: DOID:6992 ! intraocular mixed cell type melanoma
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:6998
name: gallbladder mucinous carcinoma
synonym: "Colloidal carcinoma of the gallbladder" EXACT [NCI2004_11_17:C5744]
xref: NCI:C5744
is_a: DOID:3500 ! gallbladder adenocarcinoma

[Term]
id: DOID:7
name: disease of anatomical entity
alt_id: DOID:1
alt_id: DOID:2
alt_id: DOID:5
alt_id: DOID:71
alt_id: DOID:72
alt_id: DOID:8
def: "A disease that manifests in a defined anatomical structure. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=anatomic "DO"]
synonym: "head and neck disorder" NARROW []
synonym: "perineum disease" NARROW []
xref: EFO:0000524
xref: EFO:0010689
is_a: DOID:4 ! disease

[Term]
id: DOID:700
name: mitochondrial metabolism disease
def: "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. (DO)" [http://en.wikipedia.org/wiki/Mitochondrial_disease "DO"]
synonym: "ABNORMALITY OF THE MITOCHONDRION" BROAD []
synonym: "EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC" NARROW []
synonym: "Mitochondrial Disease" EXACT []
synonym: "mitochondrial diseases" EXACT []
synonym: "Mitochondrial Disorder" EXACT []
synonym: "MITOCHONDRIAL DISORDER DUE TO A DEFECT IN ASSEMBLY OR MATURATION OF THE RESPIRATORY CHAIN COMPLEXES" NARROW []
synonym: "Mitochondrial Disorders" EXACT []
synonym: "Mitochondrial Electron Transport Chain Deficiencies" EXACT []
synonym: "Mitochondrial Respiratory Chain Deficiencies" EXACT []
synonym: "Oxidative Phosphorylation Deficiencies" EXACT []
synonym: "Oxidative Phosphorylation Deficiency" EXACT []
synonym: "respiratory chain deficiencies" EXACT []
synonym: "respiratory chain deficiency" EXACT []
xref: EFO:0000591
xref: GARD:7048
xref: MESH:D028361
xref: MONDO:0004069
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:7004
name: ACTH-secreting pituitary adenoma
alt_id: MIM:219090
def: "A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. (DO)" [http://en.wikipedia.org/wiki/Cushing%27s_syndrome "DO"]
synonym: "ACTH Producing Pituitary Adenoma" EXACT []
synonym: "ACTH-producing pituitary adenomas" EXACT []
synonym: "ACTH-Secreting Pituitary Adenomas" EXACT []
synonym: "Corticotroph Adenoma" EXACT []
synonym: "Corticotroph Adenomas" EXACT []
synonym: "corticotropinoma" EXACT []
synonym: "CUSHING DISEASE, PITUITARY" EXACT []
synonym: "PITA4" EXACT []
synonym: "PITUITARY ADENOMA 4, ACTH-SECRETING" EXACT []
synonym: "PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC" EXACT []
synonym: "Pituitary Corticotropin Secreting Adenoma" EXACT []
synonym: "pituitary corticotropin-secreting adenomas" EXACT []
xref: EFO:1000066
xref: GARD:12867
xref: MESH:D049913
xref: NCI:C7462
is_a: DOID:5395 ! functioning pituitary adenoma

[Term]
id: DOID:7005
name: gemistocytic astrocytoma
synonym: "gemistocytic astrocytic tumor" EXACT []
synonym: "gemistocytic astrocytomas" EXACT []
xref: ICDO:9411/3
xref: NCI:C4321
is_a: DOID:3069 ! malignant astrocytoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:7007
name: childhood cerebral astrocytoma
synonym: "pediatric astrocytoma of cerebrum" EXACT []
xref: NCI:C4347
is_a: DOID:0060108 ! brain glioma
is_a: DOID:3079 ! childhood astrocytic tumor
is_a: DOID:368 ! cerebrum cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:7008
name: protoplasmic astrocytoma
synonym: "protoplasmic astrocytic tumor" EXACT []
synonym: "protoplasmic astrocytomas" EXACT []
xref: ICDO:9410/3
xref: NCI:C4320
is_a: DOID:3069 ! malignant astrocytoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:701
name: dentin dysplasia
def: "A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. (DO)" [http://en.wikipedia.org/wiki/Dentin_dysplasia "DO"]
synonym: "anomalous dysplasia of dentin" EXACT []
synonym: "dentinal dysplasia" EXACT []
synonym: "dentin dysplasias" EXACT []
xref: MESH:D003805
xref: ORDO:1635
is_a: DOID:214 ! teeth hard tissue disease
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:7013
name: ovarian mucinous cystadenofibroma
def: "An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24772358 "DO"]
xref: NCI:C40041
is_a: DOID:6469 ! ovarian mucinous adenofibroma

[Term]
id: DOID:7014
name: infiltrating lipoma
synonym: "intramuscular lipoma" EXACT []
xref: NCI:C7450
xref: NCI:C7451
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:7016
name: tendon sheath lipoma
def: "A synovium neoplasm that is located_in the tendon sheath. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26665243 "DO"]
synonym: "lipoma of the tendon sheath" EXACT []
xref: NCI:C6499
xref: RDO:9004403
is_a: DOID:315 ! synovium neoplasm
is_a: DOID:3315 ! lipoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:7017
name: lumbosacral lipoma
xref: NCI:C6500
is_a: DOID:0060094 ! bone benign neoplasm
is_a: DOID:3315 ! lipoma

[Term]
id: DOID:7024
name: mucinous intrahepatic cholangiocarcinoma
xref: NCI:C41618
xref: RDO:9002873
is_a: DOID:4928 ! intrahepatic cholangiocarcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:7030
name: bronchial mucus gland adenoma
synonym: "adenoma of bronchial mucus gland" EXACT []
synonym: "adenoma of the Bronchial Mucus gland" EXACT []
xref: NCI:C5664
xref: RDO:9002008
is_a: DOID:5391 ! bronchus adenoma
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:7031
name: glottis squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the glottis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24760498 "DO"]
synonym: "epidermoid carcinoma of the glottis" EXACT []
synonym: "squamous cell carcinoma of glottis" EXACT []
xref: MONDO:0004080
xref: NCI:C8186
is_a: DOID:2599 ! glottis carcinoma
is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:7032
name: bile duct clear cell adenocarcinoma
def: "A clear cell adenocarcinoma that is located_in the bile duct. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19144165 "DO"]
synonym: "bile duct clear cell carcinoma" EXACT [NCI2004_11_17:C5775]
xref: NCI:C5775
xref: RDO:9004431
is_a: DOID:4468 ! clear cell adenocarcinoma
is_a: DOID:4896 ! bile duct adenocarcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:7033
name: anisakiasis
def: "A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung. (DO)" [http://www.dpd.cdc.gov/DPDx/HTML/Anisakiasis.htm "DO", http://www.merck.com/mmpe/sec14/ch182/ch182c.html?qt=Anisakiasis&alt=sh "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC358121/pdf/cmr00053-0060.pdf "DO"]
synonym: "Anisakiases" EXACT []
synonym: "infection by Anisakis larva" EXACT []
xref: EFO:0007146
xref: GARD:693
xref: ICD10CM:B81.0
xref: ICD9CM:127.1
xref: MESH:D017129
xref: NCI:C128393
is_a: DOID:9000395 ! Ascaridida Infections
is_a: DOID:9002892 ! Parasitic Intestinal Diseases

[Term]
id: DOID:7037
name: childhood immature teratoma of ovary
def: "An immature teratoma of overy that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3983017 "DO"]
synonym: "pediatric immature teratoma of ovary" EXACT []
xref: ICD-O:M9080/3
xref: NCI:C6547
xref: RDO:9005087
is_a: DOID:6331 ! immature teratoma of ovary
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:7039
name: Borst-Jadassohn intraepidermal carcinoma
synonym: "Bowen's disease, clonal" EXACT [SNOMEDCT_2005_07_31:403886007]
synonym: "Intraepidermal Epithelioma of Jadassohn" EXACT [NCI2004_11_17:C4110]
xref: RDO:9004997
is_a: DOID:3451 ! skin carcinoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:7040
name: uveal epithelioid cell melanoma
xref: EFO:1000244
xref: NCI:C35780
xref: RDO:9003803
is_a: DOID:4360 ! epithelioid cell melanoma
is_a: DOID:6039 ! uveal melanoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7041
name: choroid epithelioid cell melanoma
synonym: "choroidal epithelioid cell melanoma" EXACT []
xref: NCI:C6102
is_a: DOID:1752 ! ocular melanoma
is_a: DOID:4360 ! epithelioid cell melanoma
is_a: DOID:6039 ! uveal melanoma
is_a: DOID:6438 ! malignant choroid melanoma
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:7042
name: ciliary body epithelioid cell melanoma
xref: NCI:C6119
is_a: DOID:1752 ! ocular melanoma
is_a: DOID:6524 ! malignant ciliary body melanoma
is_a: DOID:7040 ! uveal epithelioid cell melanoma
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:7045
name: basaloid lung carcinoma
xref: NCI:C7266
xref: RDO:9002964
is_a: DOID:3907 ! lung squamous cell carcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:7046
name: cervical basaloid squamous cell carcinoma
def: "A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30695899 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31393622 "DO"]
xref: NCI:C40189
is_a: DOID:3744 ! cervical squamous cell carcinoma
is_a: DOID:5522 ! basaloid squamous cell carcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:7047
name: penis basaloid carcinoma
synonym: "squamous cell carcinoma of penis, Basaloid type" EXACT []
xref: NCI:C6980
xref: RDO:9002248
is_a: DOID:5518 ! penis squamous cell carcinoma
is_a: DOID:5522 ! basaloid squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:7048
name: vulvar basaloid squamous cell carcinoma
def: "A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm. (DO)" [https://www.hindawi.com/journals/jsc/2011/951250/ "DO"]
synonym: "vulvar basaloid carcinoma" EXACT []
xref: NCI:C40286
is_a: DOID:2101 ! vulva squamous cell carcinoma
is_a: DOID:5522 ! basaloid squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-15T00:00:00Z

[Term]
id: DOID:7049
name: basaloid squamous cell skin carcinoma
xref: NCI:C27543
is_a: DOID:3151 ! skin squamous cell carcinoma
is_a: DOID:5522 ! basaloid squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:705
name: Leber hereditary optic neuropathy
alt_id: MIM:535000
def: "A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))" [MESH:D029242]
synonym: "hereditary optic neuroretinopathies" EXACT []
synonym: "hereditary optic neuroretinopathy" EXACT []
synonym: "Leber's Disease" EXACT []
synonym: "Leber's Diseases" EXACT []
synonym: "Leber's Hereditary Optic Atrophy" EXACT []
synonym: "Leber's Hereditary Optic Neuropathy" EXACT []
synonym: "Leber's Optic Atrophy" EXACT []
synonym: "Leber's optic neuropathy" EXACT []
synonym: "Leber disease" EXACT []
synonym: "Leber hereditary optic atrophy" EXACT []
synonym: "Leber Optic Atrophy" EXACT []
synonym: "Leber Optic Atrophy and Dystonia" EXACT []
synonym: "Leber Optic Neuropathy" EXACT []
synonym: "Lebers Disease" EXACT []
synonym: "Lebers optic neuropathy" EXACT []
synonym: "LHON" EXACT []
synonym: "optic atrophy, Leber type" EXACT []
xref: GARD:6870
xref: ICD10CM:H47.22
xref: MESH:D029242
xref: NCI:C84808
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:7050
name: thymus basaloid carcinoma
synonym: "basaloid carcinoma of the thymus" EXACT []
xref: NCI:C6456
is_a: DOID:5522 ! basaloid squamous cell carcinoma
is_a: DOID:5530 ! thymus squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:7051
name: esophageal basaloid squamous cell carcinoma
synonym: "basaloid squamous carcinoma of esophagus" EXACT []
xref: NCI:C7032
is_a: DOID:3748 ! esophagus squamous cell carcinoma
is_a: DOID:5522 ! basaloid squamous cell carcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:7054
name: multiple skull base meningioma
xref: MONDO:0004094
xref: NCI:C5279
is_a: DOID:4437 ! skull base meningioma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:706
name: mature B-cell neoplasm
synonym: "mature B-cell lymphocytic neoplasm" EXACT []
xref: EFO:0000096
xref: NCI:C27910
is_a: DOID:707 ! B-cell lymphoma
created_by: rgd
creation_date: 2017-10-10T00:00:00Z

[Term]
id: DOID:707
name: B-cell lymphoma
def: "A non-Hodgkin lymphoma that has_material_basis_in B cells. (DO)" [http://en.wikipedia.org/wiki/B-cell_lymphoma "DO"]
synonym: "B-cell lymphocytic neoplasm" EXACT []
synonym: "B-cell lymphomas" EXACT []
synonym: "B-Cell Non-Hodgkin Lymphoma, Somatic" EXACT []
synonym: "B-cell non-Hodgkins lymphoma" EXACT []
xref: EFO:1001938
xref: GARD:5877
xref: MESH:D016393
xref: NCI:C27907
xref: NCI:C3457
is_a: DOID:0060060 ! non-Hodgkin lymphoma
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:7071
name: spinal cord dermoid cyst
def: "A dermoid cyst that is located_in the spinal cord. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23772254 "DO"]
synonym: "spinal cord dermoid" EXACT []
xref: NCI:C6808
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:2658 ! dermoid cyst
is_a: DOID:5612 ! spinal cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:7076
name: breast lipid-rich carcinoma
def: "A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40365 "DO"]
xref: NCI:C40365
is_a: DOID:5658 ! lipid-rich carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:7077
name: malignant melanocytic peripheral nerve sheath tumor of mediastinum
synonym: "mediastinal melanocytic MPNST" EXACT []
xref: NCI:C6630
is_a: DOID:5559 ! mediastinal cancer
is_a: DOID:5940 ! malignant peripheral nerve sheath tumor
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:7079
name: adult cystic teratoma
def: "A cystic teratoma that is present in an adult. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27038684 "DO"]
xref: NCI:C9012
is_a: DOID:2660 ! cystic teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:7081
name: lung mixed small cell and squamous cell carcinoma
synonym: "combined small and large cell lung cancer" EXACT []
synonym: "mixed small cell and squamous cell carcinoma of lung" EXACT []
synonym: "small cell and large cell carcinoma of the lung" EXACT []
synonym: "small cell and squamous cell carcinoma of the lung" EXACT []
xref: NCI:C9423
is_a: DOID:5410 ! pulmonary neuroendocrine tumor
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:7086
name: multicentric papillary thyroid carcinoma
def: "A papillary thyroid carcinoma arising in the thyroid gland from multiple foci. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30884463/ "DO"]
synonym: "Multifocal papillary thyroid carcinoma (PTC)" EXACT []
xref: NCI:C37304
xref: RDO:9003807
is_a: DOID:3969 ! papillary thyroid carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7088
name: columnar cell papillary thyroid carcinoma
def: "A papillary thyroid carcinoma that is characterized by the presence of pseudostratified malignant follicular cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33783022/ "DO"]
synonym: "Columnar cell PTC" EXACT []
synonym: "Columnar cell variant (CCV)" EXACT []
synonym: "columnar cell variant papillary carcinoma" EXACT []
xref: ICDO:8344/3
xref: MONDO:0004102
xref: NCI:C35830
is_a: DOID:3969 ! papillary thyroid carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7089
name: tall cell papillary thyroid carcinoma
def: "A papillary thyroid carcinoma that is characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32701516/ "DO"]
synonym: "Tall cell PTC" EXACT []
synonym: "tall cell variant papillary carcinoma" EXACT []
synonym: "Tall Cell Variant Thyroid Gland Papillary Carcinoma" EXACT []
xref: MONDO:0004103
xref: NCI:C35558
is_a: DOID:3969 ! papillary thyroid carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:709
name: splenic manifestation of hairy cell leukemia
synonym: "hairy cell leukaemia of spleen" EXACT []
synonym: "hairy cell leukemia of spleen" EXACT []
synonym: "splenic manifestation of hairy cell leukaemia" EXACT []
xref: ICD9CM:202.47
xref: NCI:C7301
is_a: DOID:285 ! hairy cell leukemia
is_a: DOID:710 ! splenic manifestation of leukemia
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:7095
name: childhood epithelioid sarcoma
synonym: "pediatric epithelioid sarcoma" EXACT []
xref: ICD-O:M8804/3
xref: NCI:C8095
is_a: DOID:6193 ! epithelioid sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:7097
name: macrocystic pattern testicular yolk sac tumor
xref: NCI:C39924
is_a: DOID:5344 ! testicular yolk sac tumor

[Term]
id: DOID:710
name: splenic manifestation of leukemia
def: "A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1492871/ "DO"]
synonym: "splenic leukemia" RELATED []
xref: NCI:C7296
is_a: DOID:672 ! spleen cancer
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:7103
name: diaphragma sellae meningioma
synonym: "meningioma of diaphragm sellae" EXACT []
xref: NCI:C5283
is_a: DOID:3643 ! sella turcica neoplasm
is_a: DOID:4437 ! skull base meningioma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:7105
name: epiglottis neoplasm
synonym: "epiglottic tumor" EXACT []
synonym: "neoplasm of epiglottis" EXACT []
xref: NCI:C4933
is_a: DOID:8002 ! supraglottis neoplasm

[Term]
id: DOID:711
name: refractory hairy cell leukemia
def: "A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment. (DO)" [http://en.wikipedia.org/wiki/Hairy_cell_leukemia "DO", http://www.medterms.com/script/main/art.asp?articlekey=5274 "DO"]
xref: ICD10CM:C91.42
xref: NCI:C142882
xref: NCI:C8030
is_a: DOID:285 ! hairy cell leukemia
is_a: DOID:712 ! refractory hematologic cancer
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:712
name: refractory hematologic cancer
def: "A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment. (DO)" [http://www.cancer.gov/dictionary/?CdrID=45708 "DO", http://www.cancer.gov/templates/db_alpha.aspx?CdrID=45863 "DO"]
xref: NCI:C27357
is_a: DOID:2531 ! hematologic cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:7127
name: radiation cystitis
synonym: "irradiation cystitis" EXACT []
xref: ICD10CM:N30.4
xref: ICD9CM:595.82
xref: NCI:C123174
is_a: DOID:1679 ! cystitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:713
name: HCL-V
synonym: "hairy cell leukaemia variant" EXACT []
synonym: "hairy cell leukemia variant" EXACT []
xref: NCI:C7401
is_a: DOID:285 ! hairy cell leukemia
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:7132
name: urinary bladder small cell neuroendocrine carcinoma
synonym: "small cell/neuroendocrine carcinoma of urinary bladder" EXACT []
synonym: "small cell neuroendocrine carcinoma of the urinary bladder" EXACT []
xref: EFO:1000129
xref: NCI:C9461
is_a: DOID:4007 ! bladder carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:7133
name: gallbladder small cell carcinoma
synonym: "Gallbladder Oat Cell Carcinoma" EXACT []
synonym: "Gallbladder Small Cell NEC" EXACT []
synonym: "Gallbladder Small Cell Neuroendocrine Carcinoma" EXACT []
synonym: "oat cell carcinoma of the gallbladder" EXACT []
xref: EFO:1000266
xref: NCI:C6763
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:4948 ! gallbladder carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7134
name: esophagus small cell carcinoma
synonym: "oat cell carcinoma of esophagus" EXACT []
synonym: "Oat cell carcinoma of oesophagus" EXACT []
synonym: "oesophagus small cell carcinoma" EXACT []
xref: NCI:C6762
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:1107 ! esophageal carcinoma
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:7136
name: ampulla of Vater small cell carcinoma
synonym: "ampullary small cell carcinoma" EXACT []
xref: NCI:C6655
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:4932 ! ampulla of Vater carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7138
name: cystitis cystica
def: "A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28466074 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29552345 "DO"]
xref: ICD9CM:595.81
xref: NCI:C96230
is_a: DOID:1679 ! cystitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:7139
name: endometrial small cell carcinoma
def: "An small cell carcinoma that has_material_basis_in small cells and located_in the endometrium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24615329 "DO"]
xref: EFO:1000239
xref: NCI:C40155
xref: RDO:9002084
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:2871 ! endometrial carcinoma
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:7140
name: Bartholin's gland small cell carcinoma
def: "A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland. (DO)" [https://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "Bartholin gland small cell carcinoma" EXACT []
xref: NCI:C40298
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:3999 ! Bartholin's gland carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7141
name: prostate small cell carcinoma
synonym: "METASTATIC PROSTATE SMALL CELL CARCINOMA" NARROW []
synonym: "prostate oat cell carcinoma" EXACT []
synonym: "small cell carcinoma of prostate" EXACT []
xref: EFO:1000499
xref: NCI:C6766
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:10286 ! prostate carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:7142
name: thymus small cell carcinoma
synonym: "small cell carcinoma of the Thymus" EXACT [NCI2004_11_17:C6460]
xref: EFO:1000578
xref: NCI:C6460
xref: RDO:9003847
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:3284 ! thymic carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7144
name: laryngeal small cell carcinoma
synonym: "small cell carcinoma of larynx" EXACT []
xref: EFO:1000320
xref: NCI:C6025
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:2600 ! laryngeal carcinoma
is_a: DOID:5469 ! biliary tract intraductal papillary mucinous neoplasm
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7146
name: Langerhans cell sarcoma
def: "A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones. (DO)" [http://en.wikipedia.org/wiki/Langerhans_cell_sarcoma "DO", https://pubmed.ncbi.nlm.nih.gov/25805533/ "DO"]
synonym: "Langerhans cell sarcomas" EXACT []
xref: EFO:0007336
xref: GARD:10491
xref: ICD10CM:C96.4
xref: ICDO:9756/3
xref: MESH:D054752
xref: NCI:C6921
xref: ORDO:86897
is_a: DOID:2570 ! malignant histiocytic disease
is_a: DOID:7849 ! dendritic cell sarcoma

[Term]
id: DOID:7147
name: ankylosing spondylitis
def: "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. (DO)" [http://en.wikipedia.org/wiki/Ankylosing_spondylitis "DO", http://www.mayoclinic.com/health/ankylosing-spondylitis/DS00483 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000420.htm "DO", http://www.spondylitis.org/about/as.aspx "DO"]
synonym: "ankylosing spondylarthritides" EXACT []
synonym: "ankylosing spondylarthritis" EXACT []
synonym: "ankylosing spondylitis, susceptibility to" RELATED []
synonym: "ankylosing spondyloarthritides" EXACT []
synonym: "ankylosing spondyloarthritis" EXACT []
synonym: "Bechterew's disease" EXACT []
synonym: "Bechterew Disease" EXACT []
synonym: "Bechterews disease" EXACT []
synonym: "Bechterew syndrome" EXACT []
synonym: "Bekhterev's disease" EXACT []
synonym: "Bekhterev syndrome" EXACT []
synonym: "Marie Struempell disease" EXACT []
synonym: "Marie-Strumpell disease" EXACT []
synonym: "Marie Strumpell spondylitis" EXACT []
synonym: "rheumatoid spondylitis" EXACT []
synonym: "spondylarthritis ankylopoietica" EXACT []
synonym: "spondylitis ankylopoietica" EXACT []
synonym: "spondyloarthritis ankylopoietica" EXACT []
xref: EFO:0003898
xref: GARD:9518
xref: ICD10CM:M45
xref: ICD9CM:720.0
xref: MESH:D013167
xref: MIM:PS106300
xref: NCI:C84564
xref: ORDO:825
is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system
is_a: DOID:227 ! ankylosis
is_a: DOID:6590 ! spondylitis
is_a: DOID:848 ! arthritis

[Term]
id: DOID:7148
name: rheumatoid arthritis
alt_id: MIM:180300
def: "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. (DO)" [http://en.wikipedia.org/wiki/Rheumatoid_arthritis "DO", http://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/home/ovc-20197388 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000431.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rheumatoid%20arthritis "DO"]
synonym: "ACPA-negative rheumatoid arthritis" NARROW []
synonym: "ACPA-positive rheumatoid arthritis" NARROW []
synonym: "atrophic arthritis" EXACT []
synonym: "RA" EXACT []
synonym: "rheumatic arthritis or polyarthritis" EXACT []
synonym: "RHEUMATOID ARTHRITIS, PROGRESSION OF" NARROW []
synonym: "rheumatoid arthritis, susceptibility to" RELATED []
synonym: "SLC22A4-RELATED CONDITION" NARROW []
xref: EFO:0000685
xref: EFO:0009459
xref: EFO:0009460
xref: ICD10CM:M06.9
xref: ICD9CM:714.0
xref: MESH:D001172
xref: NCI:C2884
is_a: DOID:1575 ! rheumatic disease
is_a: DOID:848 ! arthritis

[Term]
id: DOID:7152
name: prostate stromal sarcoma
def: "A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. (DO)" [http://www.pathologyoutlines.com/topic/prostatestromalsarcoma.html "DO"]
synonym: "stromal sarcoma of the prostate" EXACT []
xref: NCI:C5524
xref: RDO:9001831
is_a: DOID:4054 ! prostate sarcoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:7154
name: anaplastic oligodendroglioma
def: "An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). (DO)" [https://en.wikipedia.org/wiki/Anaplastic_oligodendroglioma "DO", https://my.clevelandclinic.org/health/diseases/21191-oligodendroglioma "DO", https://www.cancer.gov/rare-brain-spine-tumor/tumors/oligodendroglioma "DO"]
synonym: "anaplastic oligodendrogliomas" EXACT []
xref: EFO:0002501
xref: NCI:C4326
is_a: DOID:3181 ! oligodendroglioma
created_by: mtutaj
creation_date: 2021-01-28T23:10:11Z

[Term]
id: DOID:7160
name: rectal leiomyoma
def: "A rectal benign neoplasm that has_material_basis_in smooth muscle tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29657702 "DO"]
synonym: "leiomyoma of rectum" EXACT []
synonym: "rectum leiomyoma" EXACT []
xref: NCI:C5552
is_a: DOID:1984 ! rectal benign neoplasm
is_a: DOID:5143 ! large bowel leiomyoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:7165
name: subacute thyroiditis
def: "Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection." [MESH:D013968]
synonym: "de Quervain's thyroiditis" EXACT []
synonym: "De Quervain Thyroiditis" EXACT []
synonym: "giant cell thyroiditides" EXACT []
synonym: "Giant Cell Thyroiditis" EXACT []
synonym: "Granulomatous Thyroiditides" EXACT []
synonym: "Granulomatous Thyroiditis" EXACT []
synonym: "Subacute Granulomatous Thyroiditis" EXACT [NCI2004_11_17:C35828]
synonym: "Subacute Nonsuppurative Thyroiditides" EXACT []
synonym: "Subacute Nonsuppurative Thyroiditis" EXACT []
synonym: "Subacute Painful Thyroiditides" EXACT []
synonym: "Subacute Painful Thyroiditis" EXACT []
synonym: "subacute thyroiditides" EXACT []
xref: EFO:1001194
xref: ICD10CM:E06.1
xref: ICD9CM:245.1
xref: MESH:D013968
xref: NCI:C35071
xref: NCI:C35828
is_a: DOID:7166 ! thyroiditis

[Term]
id: DOID:7166
name: thyroiditis
def: "Inflammatory diseases of the THYROID GLAND. Thyroiditis can be classified into acute (THYROIDITIS, SUPPURATIVE), subacute (granulomatous and lymphocytic), chronic fibrous (Riedel's), chronic lymphocytic (HASHIMOTO DISEASE), transient (POSTPARTUM THYROIDITIS), and other AUTOIMMUNE THYROIDITIS subtypes." [MESH:D013966]
synonym: "Thyroiditides" EXACT []
xref: ICD10CM:E06
xref: ICD9CM:245
xref: MESH:D013966
xref: NCI:C26894
is_a: DOID:50 ! thyroid gland disease
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:7168
name: lung occult adenocarcinoma
synonym: "occult adenocarcinoma of lung" EXACT []
synonym: "occult adenocarcinoma of the lung" EXACT []
xref: NCI:C6699
is_a: DOID:3910 ! lung adenocarcinoma
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:7169
name: lung occult large cell carcinoma
synonym: "Occult large cell carcinoma of the lung" RELATED []
xref: MONDO:0004128
xref: NCI:C6685
is_a: DOID:4556 ! lung large cell carcinoma
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:7173
name: cloacogenic carcinoma
synonym: "cloacogenic anal carcinoma" EXACT []
xref: ICDO:8124/3
xref: NCI:C8255
is_a: DOID:5525 ! anal squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-15T00:00:00Z

[Term]
id: DOID:7174
name: anus basaloid carcinoma
synonym: "anal basaloid carcinoma" EXACT []
synonym: "basaloid carcinoma of the anus" EXACT []
xref: NCI:C8256
is_a: DOID:5522 ! basaloid squamous cell carcinoma
is_a: DOID:5525 ! anal squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:7175
name: anal Buschke-Lowenstein tumor
synonym: "anal giant (malignant) condyloma" EXACT []
xref: NCI:C7470
is_a: DOID:5525 ! anal squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:7177
name: anal canal squamous cell carcinoma
def: "An anal canal cancer that derives_from epithelial squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"]
xref: NCI:C7469
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:6126 ! anal canal carcinoma
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:7179
name: mixed eosinophil-basophil adenoma
synonym: "mixed acidophil-basophil adenoma" EXACT []
xref: NCI:C4148
is_a: DOID:5395 ! functioning pituitary adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:718
name: autoimmune hemolytic anemia
alt_id: MIM:205700
def: "A hemolytic anemia that is characterized by deficient red blood cells caused by auto-antibodies. (DO)" [http://en.wikipedia.org/wiki/Autoimmune_hemolytic_anemia "DO"]
synonym: "acquired autoimmune hemolytic anemia" EXACT []
synonym: "acquired idiopathic hemolytic anemia" EXACT []
synonym: "AIHA" EXACT []
synonym: "autoimmune haemolytic anaemia" EXACT []
synonym: "autoimmune hemolytic anaemia" EXACT []
synonym: "Autoimmune Hemolytic Anemias" EXACT []
synonym: "Cold Agglutinin Disease" EXACT []
synonym: "Cold Agglutinin Diseases" EXACT []
synonym: "Cold Antibody Disease" EXACT []
synonym: "Cold Antibody Diseases" EXACT []
synonym: "Cold Antibody Hemolytic Anemia" EXACT []
synonym: "idiopathic autoimmune hemolytic anemia" EXACT []
xref: EFO:1001264
xref: GARD:5870
xref: ICD9CM:283.0
xref: MESH:D000744
xref: NCI:C34378
is_a: DOID:0060050 ! autoimmune disease of blood
is_a: DOID:583 ! hemolytic anemia

[Term]
id: DOID:7181
name: benign dermal neurilemmoma
synonym: "benign schwannoma of the skin" EXACT []
xref: NCI:C5569
is_a: DOID:3165 ! skin benign neoplasm
is_a: DOID:3192 ! neurilemmoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:7187
name: subacute lymphocytic thyroiditis
xref: NCI:C35829
is_a: DOID:7165 ! subacute thyroiditis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7188
name: autoimmune thyroiditis
alt_id: MIM:608173
alt_id: MIM:608174
alt_id: MIM:608175
alt_id: MIM:608176
def: "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. (DO)" [https://en.wikipedia.org/wiki/Autoimmune_thyroiditis "DO"]
synonym: "AITD1" RELATED []
synonym: "AITD2" RELATED []
synonym: "AITD3" RELATED []
synonym: "AITD4" RELATED []
synonym: "atrophic thyroiditis" NARROW []
synonym: "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1" RELATED []
synonym: "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2" RELATED []
synonym: "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3" RELATED []
synonym: "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4" RELATED []
synonym: "autoimmune thyroiditides" EXACT []
synonym: "chronic lymphocytic thyroiditis" NARROW []
synonym: "Hashimoto's thyroiditis" NARROW []
synonym: "Hashimoto thyroiditis" NARROW []
synonym: "lymphocytic thyroiditides" EXACT []
synonym: "lymphocytic thyroiditis" EXACT []
synonym: "lymphomatous thyroiditides" EXACT []
synonym: "lymphomatous thyroiditis" EXACT []
synonym: "TG-RELATED CONDITION" BROAD []
xref: EFO:0003779
xref: EFO:0006812
xref: EFO:0006813
xref: ICD10CM:E06.3
xref: MESH:D013967
xref: NCI:C38766
is_a: DOID:0060005 ! autoimmune disease of endocrine system
is_a: DOID:7166 ! thyroiditis

[Term]
id: DOID:7191
name: ovarian endometrioid cystadenoma
def: "An ovarian cystadenoma that is characterized by the presence of endometrial tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30725635/ "DO"]
xref: NCI:C40075
is_a: DOID:3269 ! ovarian cystadenoma

[Term]
id: DOID:7192
name: hereditary conventional renal cell carcinoma
xref: NCI:C36260
is_a: DOID:4455 ! hereditary renal cell carcinoma
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:7198
name: maxillary sinus adenoid cystic carcinoma
synonym: "adenoid cystic carcinoma of maxillary sinus" EXACT []
synonym: "adenoid cystic carcinoma of the maxillary sinus" EXACT []
xref: EFO:1000365
xref: NCI:C6239
is_a: DOID:1357 ! maxillary sinus cancer

[Term]
id: DOID:720
name: normocytic anemia
def: "An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK565880 "DO"]
synonym: "Normocytic normochromic anemia" EXACT []
xref: MONDO:0004139
xref: NCI:C35142
is_a: DOID:2355 ! anemia
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:7202
name: intermediate malignant teratoma
def: "A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues. (DO)" [http://codes.iarc.fr/code/3630 "DO"]
synonym: "intermediate immature teratoma" EXACT []
xref: NCI:C4288
is_a: DOID:5563 ! malignant teratoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:7206
name: melanomatosis
xref: NCI:C9499
is_a: DOID:1909 ! melanoma
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:7207
name: lung combined large cell neuroendocrine carcinoma
synonym: "combined large cell neuroendocrine carcinoma of lung" EXACT []
synonym: "pulmonary combined large cell neuroendocrine carcinoma" EXACT []
xref: NCI:C7267
is_a: DOID:6658 ! pulmonary large cell neuroendocrine carcinoma
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:7210
name: psammomatous meningioma
xref: EFO:1000500
xref: ICDO:9533/0
xref: NCI:C4331
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:7211
name: fibrous meningioma
synonym: "Fibroblastic meningioma" EXACT []
xref: EFO:1000258
xref: ICDO:9532/0
xref: NCI:C4330
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:7212
name: meningothelial meningioma
synonym: "meningotheliomatous meningioma" EXACT []
xref: EFO:1000372
xref: ICDO:9531/0
xref: NCI:C4329
xref: RDO:9004715
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:7213
name: transitional meningioma
synonym: "transitional (mixed) meningioma" EXACT []
xref: EFO:1000602
xref: ICDO:9537/0
xref: NCI:C4333
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:7214
name: noninvasive malignant thymoma
xref: NCI:C9080
is_a: DOID:3275 ! thymoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7221
name: gallbladder papillary carcinoma
def: "A papillary carcioma that is located_in the gallbladder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15974814 "DO"]
synonym: "papillary carcinoma of the gallbladder" EXACT []
xref: NCI:C5743
is_a: DOID:3113 ! papillary carcinoma
is_a: DOID:3500 ! gallbladder adenocarcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:7222
name: gallbladder pleomorphic giant cell adenocarcinoma
def: "Pleomorphic Giant cell adenocarcinoma of the gallbladder." []
synonym: "Pleomorphic Giant cell adenocarcinoma of the gallbladder" EXACT [NCI2004_11_17:C5838]
is_a: DOID:3500 ! gallbladder adenocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:7223
name: breast giant fibroadenoma
def: "A breast fibroadenoma that is larger than 5 cm. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596698/ "DO"]
synonym: "Giant Fibroadenoma" EXACT [NCI2004_11_17:C4273]
synonym: "Giant fibroadenoma of breast" EXACT [SNOMEDCT_2005_07_31:254846003]
xref: NCI:C4273
xref: RDO:9004272
is_a: DOID:1618 ! breast fibroadenoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:7224
name: spinal meninges cancer
synonym: "malignant neoplasm of spinal meninges" EXACT []
xref: ICD10CM:C70.1
xref: ICD9CM:192.3
is_a: DOID:5612 ! spinal cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:7230
name: postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
synonym: "CLL/SLL with IGVH SHM" EXACT []
xref: NCI:C37201
is_a: DOID:6354 ! chronic lymphocytic leukemia/small lymphocytic lymphoma
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:7231
name: childhood CNS embryonal cell carcinoma
def: "A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq "DO", https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq "DO"]
synonym: "embryonal carcinoma of paediatric CNS" EXACT []
synonym: "embryonal carcinoma of pediatric CNS" EXACT []
synonym: "paediatric CNS embryonal cell carcinoma" EXACT []
synonym: "pediatric CNS embryonal cell carcinoma" EXACT []
xref: NCI:C6208
is_a: DOID:1319 ! brain cancer
is_a: DOID:6052 ! central nervous system childhood germ cell tumor
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:7232
name: central nervous system embryonal carcinoma
synonym: "Embryonal carcinoma of CNS" EXACT [NCI2004_11_17:C7010]
synonym: "embryonal carcinoma of the central nervous system" RELATED []
xref: NCI:C7010
xref: RDO:9004157
is_a: DOID:3308 ! embryonal carcinoma
is_a: DOID:4439 ! central nervous system germ cell tumor
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:7233
name: adult central nervous system embryonal carcinoma
def: "A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq "DO", https://www.ncbi.nlm.nih.gov/pubmed/17997317 "DO"]
synonym: "Embryonal carcinoma of the adult central nervous system" EXACT [NCI2004_11_17:C5790]
xref: NCI:C5790
is_a: DOID:5349 ! central nervous system adult germ cell tumor

[Term]
id: DOID:7234
name: mucinous cystadenocarcinoma of pancreas
def: "A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK448105/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959310/ "DO"]
synonym: "pancreatic colloid cystadenocarcinoma" EXACT []
synonym: "pancreatic mucinous cystadenocarcinoma" EXACT []
xref: NCI:C5713
is_a: DOID:3603 ! mucinous cystadenocarcinoma
is_a: DOID:4073 ! pancreatic cystadenocarcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:7235
name: pancreatic mucinous cystadenoma
synonym: "pancreatic mucinous cystic neoplasm" EXACT []
xref: NCI:C41247
xref: RDO:9004096
is_a: DOID:3918 ! pancreatic cystadenoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:7236
name: pancreatic invasive mucinous cystadenocarcinoma
xref: NCI:C41246
is_a: DOID:7234 ! mucinous cystadenocarcinoma of pancreas
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:7237
name: pancreatic non-invasive mucinous cystadenocarcinoma
xref: NCI:C41245
is_a: DOID:7234 ! mucinous cystadenocarcinoma of pancreas
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:724
name: female stress incontinence
synonym: "female urinary stress incontinence" EXACT []
xref: ICD9CM:625.6
xref: NCI:C35042
xref: RDO:9003074
is_a: DOID:365 ! bladder disease
is_a: DOID:9001330 ! Urinary Incontinence, Stress
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:7241
name: uterine corpus apoplectic leiomyoma
def: "An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle. (DO)" [http://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html "DO"]
xref: NCI:C40165
is_a: DOID:7242 ! uterine corpus cellular leiomyoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:7242
name: uterine corpus cellular leiomyoma
def: "An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus. (DO)" [http://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25490906 "DO"]
xref: NCI:C40163
is_a: DOID:0060095 ! uterine benign neoplasm
is_a: DOID:5139 ! cellular leiomyoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:7244
name: bladder urachal urothelial carcinoma
xref: NCI:C39844
is_a: DOID:4006 ! bladder urothelial carcinoma
is_a: DOID:5958 ! bladder urachal carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:7246
name: lymphoepithelioma-like acinar prostate adenocarcinoma
synonym: "Acinar Prostate Adenocarcinoma, Lymphoepithelioma-Like Variant" EXACT []
xref: NCI:C39885
is_a: DOID:2526 ! prostate adenocarcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:7263
name: selective IgD deficiency disease
def: "A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27144 "DO"]
synonym: "selective IgD immunodeficiency" EXACT []
synonym: "selective immunoglobulin D deficiency" EXACT []
xref: NCI:C27144
is_a: DOID:6025 ! selective immunoglobulin deficiency disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:7266
name: familiar fallopian tube carcinoma
xref: NCI:C40455
is_a: DOID:1963 ! fallopian tube carcinoma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:7267
name: lung clear cell carcinoma
is_a: DOID:3910 ! lung adenocarcinoma
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:7269
name: cribriform variant testicular seminoma
xref: NCI:C40957
is_a: DOID:5842 ! testis seminoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:727
name: premenstrual tension
def: "A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses." [MESH:D011293]
synonym: "Premenstrual Syndrome" EXACT []
synonym: "Premenstrual Syndromes" EXACT []
synonym: "Premenstrual Tensions" EXACT []
xref: ICD10CM:N94.3
xref: ICD9CM:625.4
xref: MESH:D011293
is_a: DOID:229 ! female reproductive system disease
is_a: DOID:9004918 ! Menstruation Disturbances

[Term]
id: DOID:728
name: nodular episcleritis
def: "A scleral disease that is characterized by painful inflammation with surface nodule formation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular episcleritis is typically self-limited and may be caused by vascular congestion within the superficial episcleral plexus. (DO)" [https://eyewiki.aao.org/Episcleritis "DO"]
xref: ICD10CM:H15.12
xref: ICD9CM:379.02
is_a: DOID:11343 ! scleral disease

[Term]
id: DOID:7280
name: congenital epulis
synonym: "congenital epulides" EXACT []
xref: NCI:C4675
is_a: DOID:0080015 ! physical disorder
is_a: DOID:5337 ! epulis

[Term]
id: DOID:7281
name: uterine corpus adenocarcinofibroma
def: "A uterine body mixed cancer that derives_from epithelial cells which originate in glandular tissue and connective tissue. (DO)" [http://www.cancernetwork.com/cancer-management/uterine-corpus-tumors "DO"]
is_a: DOID:4114 ! uterine body mixed cancer
is_a: DOID:4422 ! malignant adenofibroma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:7284
name: Skene gland carcinoma
synonym: "carcinoma of the Paraurethral gland" EXACT []
synonym: "paraurethral gland carcinoma" EXACT []
xref: NCI:C39863
xref: NCI:C7371
is_a: DOID:14059 ! paraurethral gland cancer
is_a: DOID:305 ! carcinoma
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:7289
name: endometrial endometrioid adenocarcinoma, secretory variant
def: "An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium. (DO)" [http://www.pathologyoutlines.com/topic/uterussecretory.html "DO"]
synonym: "secretory uterine corpus endometrioid adenocarcinoma" EXACT []
xref: NCI:C27839
is_a: DOID:2870 ! endometrial adenocarcinoma
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:7293
name: mucin-rich endometrial endometrioid adenocarcinoma
def: "An endometrial adenocarcinoma that is characterized by the presence of abundant mucin. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28421274/ "DO"]
xref: NCI:C8717
is_a: DOID:2870 ! endometrial adenocarcinoma
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:7297
name: childhood extraosseous osteosarcoma
def: "An extraosseous osteosarcoma that arises from the soft tissue and occurs during childhood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18214458/ "DO"]
synonym: "Childhood Extraskeletal Osteosarcoma" EXACT []
synonym: "pediatric extraskeletal osteosarcoma" EXACT []
xref: NCI:C27376
is_a: DOID:3357 ! extraosseous osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:730
name: urethral benign neoplasm
synonym: "neoplasm. urethra" EXACT [NCI2004_11_17:C3428]
synonym: "neoplasm of urethra" EXACT [SNOMEDCT_2005_07_31:126883004]
xref: NCI:C3428
xref: RDO:9003376
is_a: DOID:731 ! urinary system benign neoplasm
is_a: DOID:9002378 ! Urethral Neoplasms
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:7302
name: endodermal sinus pattern testicular yolk sac tumor
xref: NCI:C39927
is_a: DOID:5344 ! testicular yolk sac tumor

[Term]
id: DOID:7305
name: astroblastoma
def: "A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly. (DO)" [https://www.futuremedicine.com/doi/full/10.2217/cns-2018-0012 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910607/ "DO"]
synonym: "astroblastomas" EXACT []
synonym: "ependymoastrocytoma" EXACT []
synonym: "ependymoastrocytomas" EXACT []
synonym: "neuroepithelial neoplasm" EXACT []
synonym: "neuroepithelial neoplasms" EXACT []
synonym: "neuroepithelial tumor" EXACT []
synonym: "neuroepithelial tumors" EXACT []
synonym: "polar spongioblastoma" RELATED []
xref: EFO:1000488
xref: GARD:10635
xref: ICDO:9430/3
xref: MESH:D018302
xref: NCI:C4324
is_a: DOID:171 ! neuroectodermal tumor
is_a: DOID:3069 ! malignant astrocytoma
is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms

[Term]
id: DOID:731
name: urinary system benign neoplasm
def: "An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. (DO)" [http://en.wikipedia.org/wiki/Urinary_system "DO"]
xref: NCI:C3431
is_a: DOID:0060085 ! organ system benign neoplasm
is_a: DOID:18 ! urinary system disease
is_a: DOID:9004643 ! Urologic Neoplasms
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:7312
name: breast adenomyoepithelial adenosis
xref: NCI:C40391
is_a: DOID:5998 ! microglandular adenosis

[Term]
id: DOID:7315
name: Jewett-Marshall bladder cancer
synonym: "Jewett-Marshall stage D1 bladder cancer" RELATED []
synonym: "Jewett-Marshall stage D2 bladder cancer" RELATED []
synonym: "stage IVB urinary bladder carcinoma" EXACT []
xref: NCI:C9368
is_a: DOID:4007 ! bladder carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:7319
name: axonal neuropathy
synonym: "MOTOR AXONAL NEUROPATHY" NARROW []
synonym: "PERIPHERAL AXONAL NEUROPATHY" RELATED []
synonym: "SENSORY AXONAL NEUROPATHY" NARROW []
xref: NCI:C27301
xref: RDO:9002728
is_a: DOID:870 ! neuropathy
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:732
name: urethral disease
def: "A urinary system disease that is located_in the urethra. (DO)" [http://www.nlm.nih.gov/medlineplus/urethraldisorders.html "DO"]
synonym: "urethra disease" EXACT []
synonym: "urethral diseases" EXACT []
xref: EFO:0009689
xref: ICD10CM:N36.9
xref: MESH:D014522
xref: NCI:C26903
is_a: DOID:18 ! urinary system disease

[Term]
id: DOID:7320
name: ovarian serous cystadenofibroma
def: "An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces. (DO)" [https://en.wikipedia.org/wiki/Ovarian_serous_cystadenoma "DO"]
xref: NCI:C40032
is_a: DOID:5474 ! ovarian serous adenofibroma

[Term]
id: DOID:7326
name: cranial pseudosarcomatous fasciitis
xref: NCI:C27248
xref: RDO:9003832
is_a: DOID:7327 ! pseudosarcomatous fibromatosis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7327
name: pseudosarcomatous fibromatosis
synonym: "nodular fasciitis" EXACT []
synonym: "pseudosarcomatous fasciitis" EXACT []
xref: ICD10CM:M72.4
xref: NCI:C3827
is_a: DOID:9598 ! fasciitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7328
name: iris spindle cell melanoma
def: "A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5 "DO"]
xref: NCI:C6098
is_a: DOID:3162 ! malignant spindle cell melanoma
is_a: DOID:6037 ! spindle cell intraocular melanoma
is_a: DOID:6039 ! uveal melanoma
is_a: DOID:6994 ! malignant iris melanoma
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:7332
name: esophageal tuberculosis
def: "A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss. (DO)" [http://www.springerlink.com/content/53763553187824h3/fulltext.pdf "DO"]
synonym: "tuberculosis of esophagus" EXACT []
xref: ICD9CM:017.8
xref: RDO:9004489
is_a: DOID:404 ! gastrointestinal tuberculosis
is_a: DOID:6050 ! esophageal disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:7333
name: nephrogenic adenoma of urinary bladder
synonym: "nephrogenic adenoma of the urinary bladder" EXACT []
xref: NCI:C7415
is_a: DOID:0050623 ! bladder benign neoplasm
is_a: DOID:7334 ! nephrogenic adenoma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:7334
name: nephrogenic adenoma
xref: NCI:C7413
xref: NCI:C97097
is_a: DOID:3116 ! kidney benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:734
name: urethra cancer
def: "An urinary tract cancer that derives_from the tissues of the urethra. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient "DO"]
synonym: "cancer of urethra" EXACT []
synonym: "malignant tumour of urethra" EXACT []
synonym: "malignant urethral neoplasm" EXACT []
synonym: "urethra cancers" EXACT []
synonym: "urethral Ca" EXACT []
synonym: "urethral cancer" EXACT []
synonym: "urethral cancers" EXACT []
xref: EFO:0003846
xref: GARD:9390
xref: ICD10CM:C68.0
xref: ICD9CM:189.3
xref: NCI:C7507
xref: NCI:C9106
xref: RDO:9002106
is_a: DOID:3996 ! urinary system cancer
is_a: DOID:9002378 ! Urethral Neoplasms

[Term]
id: DOID:7340
name: childhood ovarian dysgerminoma
def: "A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells. (DO)" [http://en.wikipedia.org/wiki/Dysgerminoma "DO", http://www.cancer.gov/dictionary?CdrID=672835 "DO"]
synonym: "pediatric ovarian dysgerminoma" EXACT []
xref: ICD-O:M9060/3
xref: NCI:C6550
is_a: DOID:5511 ! dysgerminoma of ovary
is_a: DOID:6084 ! childhood ovarian germ cell tumor
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:7347
name: ovarian stromal hyperthecosis
def: "An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization. (DO)" [https://en.wikipedia.org/wiki/Hyperthecosis "DO"]
xref: NCI:C40446
is_a: DOID:1100 ! ovarian disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7350
name: thymic dysplasia
def: "This is the developmental arrest and architectural distortion of the thymus that results in immunodeficiency." [NCI:C27802]
synonym: "thymus atrophy" BROAD []
xref: EFO:0009875
xref: NCI:C27802
is_a: DOID:533 ! thymus gland disease

[Term]
id: DOID:7356
name: rectum sarcomatoid carcinoma
synonym: "sarcomatoid carcinoma of rectum" EXACT []
xref: NCI:C5556
is_a: DOID:4015 ! sarcomatoid carcinoma
is_a: DOID:5528 ! rectum squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:736
name: male urethral cancer
xref: NCI:C39867
is_a: DOID:734 ! urethra cancer

[Term]
id: DOID:7360
name: solid pattern testicular yolk sac tumor
xref: NCI:C39925
is_a: DOID:5344 ! testicular yolk sac tumor

[Term]
id: DOID:7363
name: vulvar keratinizing squamous cell carcinoma
def: "A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16032717 "DO"]
xref: NCI:C40284
is_a: DOID:2101 ! vulva squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-15T00:00:00Z

[Term]
id: DOID:7365
name: Kimura disease
def: "A chronic inflammatory disease characterized by benign enlargement of cervical LYMPH NODE and SALIVARY GLANDS with increased levels of IMMUNOGLOBULIN E. Unlike ANGIOLYMPHOID HYPERPLASIA WITH EOSINOPHILIA it involves eosinophil infiltrates in lymph node and salivary glands and mostly found in Asian males. (MESH)" []
synonym: "Eosinophilic Granuloma of Soft Tissue" EXACT []
synonym: "Eosinophilic Hyperplastic Lymphogranuloma" EXACT []
synonym: "eosinophilic hyperplastic lymphogranulomas" EXACT []
synonym: "Eosinophilic Lymphofollicular Granuloma" EXACT []
synonym: "Eosinophilic Lymphofollicular Granulomas" EXACT []
synonym: "Eosinophilic Lymphofolliculoses" EXACT []
synonym: "eosinophilic lymphofolliculosis" EXACT []
synonym: "Kimura's disease" EXACT []
xref: EFO:1000722
xref: GARD:6835
xref: MESH:D000082242
xref: NCI:C26867
is_a: DOID:10854 ! salivary gland disease
is_a: DOID:1602 ! lymphadenitis
is_a: DOID:37 ! skin disease
is_a: DOID:9001371 ! Eosinophilia
is_a: DOID:9002019 ! Granuloma

[Term]
id: DOID:7371
name: superficial urinary bladder cancer
def: "A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area. (DO)" [http://www.malecare.com/new_page_91.htm "DO"]
synonym: "superficial urinary bladder carcinoma" EXACT []
xref: NCI:C27474
is_a: DOID:4007 ! bladder carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:7378
name: pituitary hypoplasia
xref: NCI:C27343
xref: RDO:9004130
is_a: DOID:53 ! pituitary gland disease
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:7379
name: adrenal medulla carcinoma
def: "An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"]
xref: NCI:C9276
is_a: DOID:305 ! carcinoma
is_a: DOID:5719 ! adrenal medulla cancer
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:738
name: female urethral cancer
xref: NCI:C39866
is_a: DOID:734 ! urethra cancer

[Term]
id: DOID:7380
name: squamous cell papilloma of skin
synonym: "parakeratotic skin papilloma" EXACT []
xref: NCI:C4462
is_a: DOID:139 ! squamous cell papilloma
is_a: DOID:3178 ! skin papilloma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7381
name: lymphohistiocytoid mesothelioma
xref: NCI:C27779
xref: RDO:9002754
is_a: DOID:7474 ! malignant pleural mesothelioma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:7388
name: pulmonary vein leiomyosarcoma
def: "A leiomyosarcoma that is located_in the pulmonary vein. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11107057 "DO"]
synonym: "leiomyosarcoma of the pulmonary vein" EXACT []
xref: NCI:C5374
is_a: DOID:175 ! vascular cancer
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:866 ! vein disease
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:7389
name: pulmonary artery leiomyosarcoma
def: "A leiomyosarcoma that is located_in the pulmonary artery. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22214627 "DO"]
synonym: "leiomyosarcoma of the pulmonary artery" EXACT []
xref: NCI:C5373
is_a: DOID:1324 ! lung cancer
is_a: DOID:175 ! vascular cancer
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:60001 ! pulmonary artery disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:7390
name: superior vena cava leiomyosarcoma
def: "A leiomyosarcoma that is located_in the superior vena cava. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2733032/ "DO"]
synonym: "leiomyosarcoma of the superior vena cava" EXACT []
xref: NCI:C6745
is_a: DOID:175 ! vascular cancer
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:866 ! vein disease
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:7398
name: cerebral primitive neuroectodermal tumor
synonym: "PNET of cerebrum" EXACT []
xref: NCI:C4970
xref: RDO:9004164
is_a: DOID:0060103 ! central nervous system embryonal tumor
is_a: DOID:368 ! cerebrum cancer
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:74
name: hematopoietic system disease
def: "A disease of anatomical entity that has_material_basis_in hematopoietic cells. (DO)" [http://en.wikipedia.org/wiki/Hematopathology "DO", https://www.ncbi.nlm.nih.gov/books/NBK1741/ "DO"]
synonym: "Blood Disease" EXACT []
synonym: "blood diseases" EXACT []
synonym: "blood disorder" EXACT []
synonym: "blood dyscrasia" EXACT []
synonym: "disease of haematopoietic system" EXACT []
synonym: "disease of hematopoietic system" EXACT []
synonym: "disease of the blood and blood-forming organs" EXACT []
synonym: "haematopoietic system disease" EXACT []
synonym: "Hematological Disease" EXACT []
synonym: "hematological diseases" EXACT []
synonym: "hematologic disease" EXACT []
synonym: "hematologic diseases" EXACT []
xref: EFO:0005803
xref: EFO:0010283
xref: ICD10CM:D75.9
xref: ICD9CM:289.9
xref: MESH:D006402
xref: NCI:C26323
is_a: DOID:7 ! disease of anatomical entity
is_a: DOID:9008080 ! Hemic and Lymphatic Diseases

[Term]
id: DOID:7400
name: Nijmegen breakage syndrome
alt_id: MIM:251260
def: "A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3277755 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9042920 "DO"]
synonym: "ataxia-telangiectasia variant 1" EXACT []
synonym: "ataxia-telangiectasia variant V1" EXACT []
synonym: "ATAXIA-TELANGIECTASIA VARIANT V2" NARROW []
synonym: "At-V1" EXACT []
synonym: "AT-V2" NARROW []
synonym: "autosomal recessive nonsyndromal microcephaly with normal intelligence" EXACT []
synonym: "BBS" NARROW []
synonym: "Berlin Breakage Syndrome" EXACT []
synonym: "Immunodeficiency, Microcephaly, And Chromosomal Instability" EXACT []
synonym: "IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY  BERLIN BREAKAGE SYNDROME" NARROW []
synonym: "immunodeficiency-microcephaly-chromosomal instability syndrome" EXACT []
synonym: "microcephaly-immunodeficiency-lymphoreticuloma syndrome" EXACT []
synonym: "MICROCEPHALY, NORMAL INTELLIGENCE AND IMMUNODEFICIENCY" EXACT []
synonym: "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies" EXACT []
synonym: "NBS" EXACT []
synonym: "Seemanova syndrome" EXACT []
synonym: "Seemanova syndrome 2" EXACT []
synonym: "Seemanova syndrome II" EXACT []
synonym: "Seemanova syndrome type 2" EXACT []
xref: GARD:3904
xref: MESH:D049932
xref: NCI:C4692
xref: ORDO:647
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders

[Term]
id: DOID:7401
name: colonic L-cell glucagon-like peptide producing tumor
xref: NCI:C27447
xref: RDO:9002031
is_a: DOID:219 ! colon cancer
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:7402
name: L-cell glucagon-like peptide producing tumor
xref: NCI:C27448
xref: RDO:9004101
is_a: DOID:4148 ! gastrointestinal neuroendocrine benign tumor
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:7408
name: vulvar keratoacanthoma
def: "A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C40288 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24719870 "DO"]
comment: DO: NCI retired concept, vulvar keratoacanthoma-like carcinoma.
synonym: "vulvar keratoacanthoma-like carcinoma" EXACT []
xref: NCI:C128167
is_a: DOID:2101 ! vulva squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-15T00:00:00Z

[Term]
id: DOID:7409
name: vulvar non-keratinizing squamous cell carcinoma
def: "A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374790/ "DO"]
xref: NCI:C40285
is_a: DOID:2101 ! vulva squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-15T00:00:00Z

[Term]
id: DOID:7411
name: ovarian endometrioid cystadenofibroma
def: "An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/514560 "DO"]
xref: NCI:C27288
is_a: DOID:5480 ! ovarian endometrioid adenofibroma

[Term]
id: DOID:7426
name: cutaneous anthrax
def: "An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center. (DO)" [https://en.wikipedia.org/wiki/Anthrax#Skin "DO"]
synonym: "anthrax, skin type" EXACT []
synonym: "skin anthrax" EXACT []
xref: GARD:8158
xref: ICD10CM:A22.0
xref: ICD9CM:022.0
xref: MESH:C531621
is_a: DOID:13778 ! chancroid
is_a: DOID:7427 ! anthrax disease
is_a: DOID:9003209 ! Bacterial Skin Diseases

[Term]
id: DOID:7427
name: anthrax disease
def: "A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. (DO)" [https://en.wikipedia.org/wiki/Anthrax "DO", https://medlineplus.gov/ency/article/001325.htm "DO", https://www.cdc.gov/anthrax/basics/index.html "DO", https://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/anthrax "DO"]
synonym: "anthrax" EXACT []
xref: EFO:0000778
xref: GARD:8157
xref: ICD10CM:A22
xref: ICD9CM:022
xref: MESH:D000881
xref: NCI:C84565
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9004154 ! Bacillaceae Infections

[Term]
id: DOID:7428
name: pineal region germinoma
xref: NCI:C8712
is_a: DOID:1660 ! malignant pineal area germ cell neoplasm
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:7429
name: childhood brain germinoma
def: "A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area. (DO)" [https://en.wikipedia.org/wiki/Germinoma "DO"]
synonym: "germinoma of the pediatric brain" EXACT []
xref: NCI:C6207
is_a: DOID:2127 ! brain germinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:743
name: dermatographia
alt_id: MIM:125635
def: "A physical urticaria induced by stroking of the skin. (DO)" [http://en.wikipedia.org/wiki/Dermatographic_urticaria "DO", http://www.dermnetnz.org/reactions/urticaria.html "DO"]
synonym: "DDU" EXACT []
synonym: "dermatographic urticaria" EXACT []
synonym: "dermo-distortive urticaria" EXACT []
synonym: "dermodistortive urticaria" EXACT []
synonym: "dermographism" EXACT []
synonym: "familial dermatographism" EXACT []
synonym: "familial dermographism" EXACT []
xref: EFO:1000685
xref: ICD10CM:L50.3
xref: ICD9CM:708.3
xref: MESH:C536612
xref: NCI:C111885
is_a: DOID:0060220 ! physical urticaria
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:7430
name: childhood germ cell brain tumor
def: "A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq "DO"]
synonym: "childhood germ cell brain tumour" EXACT []
synonym: "germ cell neoplasm of the paediatric brain" EXACT []
synonym: "germ cell neoplasm of the pediatric brain" EXACT []
xref: NCI:C5795
is_a: DOID:1319 ! brain cancer
is_a: DOID:6052 ! central nervous system childhood germ cell tumor
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:7435
name: polyvesicular vitelline pattern testicular yolk sac tumor
xref: NCI:C39930
is_a: DOID:5344 ! testicular yolk sac tumor

[Term]
id: DOID:7436
name: sarcomatoid uterine corpus endometrioid adenocarcinoma
def: "An endometrial adenocarcinoma that has_material_basis_in mesenchymal elements. (DO)" [https://en.wikipedia.org/wiki/Sarcomatoid_carcinoma "DO"]
xref: NCI:C27850
xref: RDO:9002087
is_a: DOID:2870 ! endometrial adenocarcinoma
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:7437
name: uterus perivascular epithelioid cell tumor
def: "A perivascular epithelioid cell tumor that is located_in the uterus. (DO)" [http://www.pathologyoutlines.com/topic/uterusPEComa.html "DO", https://en.wikipedia.org/wiki/Perivascular_epithelioid_cell_tumour "DO", https://www.ncbi.nlm.nih.gov/pubmed/24698426 "DO"]
synonym: "uterine corpus PEComa" EXACT []
xref: NCI:C40180
is_a: DOID:2643 ! perivascular epithelioid cell tumor
is_a: DOID:9460 ! uterine corpus cancer
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:7438
name: ovarian clear cell cystadenocarcinoma
def: "An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22747504 "DO"]
xref: NCI:C7980
xref: RDO:9002510
is_a: DOID:3605 ! ovarian cystadenocarcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:7439
name: polyp of middle ear
synonym: "middle ear polyp" EXACT []
synonym: "polyp of the middle ear" EXACT []
xref: ICD10CM:H74.4
xref: MONDO:0004223
xref: NCI:C6933
is_a: DOID:5100 ! middle ear disease
is_a: DOID:9003896 ! Polyps
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:7441
name: chronic metabolic polyneuropathy
xref: NCI:C35602
xref: RDO:9004835
is_a: DOID:5221 ! chronic polyneuropathy
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:7442
name: monoclonal gammopathy of uncertain significance
def: "A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood. (DO)" [https://rarediseases.info.nih.gov/diseases/7034/monoclonal-gammopathy-of-undetermined-significance "DO", https://www.mayoclinic.org/diseases-conditions/mgus/symptoms-causes/syc-20352362 "DO"]
synonym: "Benign Monoclonal Gammopathies" EXACT []
synonym: "Benign Monoclonal Gammopathy" EXACT []
synonym: "MGUS" EXACT []
synonym: "monoclonal gammopathy" EXACT []
synonym: "monoclonal gammopathy of undetermined significance" EXACT []
xref: EFO:0000203
xref: EFO:1000836
xref: GARD:7034
xref: MESH:D008998
xref: NCI:C3996
is_a: DOID:6536 ! plasma cell neoplasm
is_a: DOID:9003571 ! Paraproteinemias
is_a: DOID:9005358 ! Hypergammaglobulinemia

[Term]
id: DOID:745
name: epididymis adenomatoid tumor
def: "A male reproductive organ benign neoplasm that is located_in the epididymis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19893140 "DO"]
synonym: "adenomatoid neoplasm of the epididymis" RELATED []
synonym: "benign epididymal epithelial mesothelioma" EXACT []
xref: NCI:C6382
is_a: DOID:0060087 ! male reproductive organ benign neoplasm
is_a: DOID:0080373 ! epididymis disease
is_a: DOID:746 ! adenomatoid tumor
is_a: DOID:9402 ! epididymitis
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:7457
name: enterobiasis
def: "A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching. (DO)" [http://www.dpd.cdc.gov/DPDx/HTML/Enterobiasis.htm "DO", http://www.merck.com/mmpe/sec14/ch182/ch182h.html?qt=enterobiasis&alt=sh "DO"]
synonym: "Enterobiases" EXACT []
synonym: "Enterobius vermicularis Infection" EXACT []
synonym: "Enterobius vermicularis Infections" EXACT []
synonym: "oxyuris vermicularis infection" EXACT []
synonym: "Pinworm infection" RELATED []
synonym: "threadworm infection" EXACT []
xref: EFO:0007254
xref: ICD10CM:B80
xref: MESH:D017229
is_a: DOID:9005087 ! Oxyuriasis

[Term]
id: DOID:7459
name: acantholytic variant squamous cell breast carcinoma
def: "A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223956/ "DO"]
xref: EFO:1001969
xref: NCI:C40359
is_a: DOID:5514 ! breast squamous cell carcinoma

[Term]
id: DOID:746
name: adenomatoid tumor
def: "A small, circumscribed, benign tumor of the genital tract, composed of small glandlike spaces lined by flattened or cuboidal mesothelium-like cells. (From Dorland, 27th ed)" [MESH:D018254]
synonym: "adenomatoid tumors" EXACT []
synonym: "adenomatoid tumour" EXACT []
synonym: "benign localised epithelial mesothelioma" EXACT []
synonym: "benign localized epithelial mesothelioma" EXACT []
xref: ICD10CM:D19.9
xref: ICDO:9054/0
xref: MESH:D018254
xref: NCI:C3762
is_a: DOID:2645 ! benign mesothelioma
is_a: DOID:657 ! adenoma

[Term]
id: DOID:7460
name: spindle cell variant squamous cell breast carcinoma
def: "A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25822766 "DO"]
xref: NCI:C40358
is_a: DOID:5514 ! breast squamous cell carcinoma

[Term]
id: DOID:7461
name: large cell keratinizing variant squamous cell breast carcinoma
def: "A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin. (DO)" [https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C1519486 "DO"]
xref: NCI:C40357
is_a: DOID:5514 ! breast squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:7463
name: childhood pleomorphic rhabdomyosarcoma
synonym: "childhood anaplastic rhabdomyosarcoma" EXACT []
xref: ICD-O:M8901/3
xref: NCI:C7959
xref: RDO:9003904
is_a: DOID:3250 ! pleomorphic rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7465
name: chronic NK-cell lymphocytosis
def: "A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8624463 "DO"]
synonym: "NK-cell large granular Lymphocyte Lymphocytosis" EXACT []
xref: NCI:C39591
is_a: DOID:2916 ! hypersensitivity reaction type IV disease

[Term]
id: DOID:7474
name: malignant pleural mesothelioma
def: "A pleural cancer that has_material_basis_in mesothelium cells. (DO)" [http://en.wikipedia.org/wiki/Mesothelioma "DO"]
synonym: "malignant mesothelioma of pleura" EXACT []
synonym: "Pleural Sarcomatoid Mesothelioma" NARROW []
xref: EFO:0000770
xref: EFO:1000486
xref: ICD10CM:C45.0
xref: NCI:C7376
is_a: DOID:0050615 ! respiratory system cancer
is_a: DOID:1790 ! malignant mesothelioma
is_a: DOID:5158 ! pleural cancer
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:7475
name: diverticulitis
def: "An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. (DO)" [https://en.wikipedia.org/wiki/Diverticulitis "DO"]
synonym: "diverticulitides" EXACT []
xref: EFO:1001460
xref: MESH:D004238
xref: NCI:C26752
is_a: DOID:2326 ! gastroenteritis
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9002654 ! Intraabdominal Infections

[Term]
id: DOID:7479
name: duodenal somatostatinoma
synonym: "duodenal delta cell somatostatin producing tumor" EXACT []
xref: NCI:C27407
is_a: DOID:10021 ! duodenum cancer
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:7480
name: large cell carcinoma with rhabdoid phenotype
synonym: "large cell lung carcinoma with rhabdoid phenotype" EXACT []
xref: ICDO:8014/3
xref: NCI:C6876
is_a: DOID:4552 ! large cell carcinoma
is_a: DOID:4556 ! lung large cell carcinoma
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:7482
name: petrous apex meningioma
synonym: "meningioma of the Petrous Ridge" EXACT [NCI2004_11_17:C5271]
xref: NCI:C5271
xref: RDO:9004630
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:7483
name: cervical keratinizing squamous cell carcinoma
def: "A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11688467 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31651557 "DO"]
xref: NCI:C40187
is_a: DOID:3744 ! cervical squamous cell carcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:7488
name: posterior urethra cancer
def: "A female urethral cancer located_in the posterior urethra. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/posterior-urethral-cancer "DO"]
synonym: "Posterior urethral malignant tumor" EXACT [NCI2004_11_17:C7640]
xref: NCI:C7640
is_a: DOID:738 ! female urethral cancer

[Term]
id: DOID:7489
name: Osgood-Schlatter's disease
def: "A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. (DO)" [http://en.wikipedia.org/wiki/Osgood%E2%80%93Schlatter_disease "DO", http://www.mayoclinic.com/health/osgood-schlatter-disease/DS00392 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001258.htm "DO"]
synonym: "juvenile osteochondrosis of tibial tubercle" EXACT []
synonym: "Osgood-Schlatter disease" EXACT []
synonym: "osteochondritis of tibial tubercle" EXACT []
synonym: "osteochondrosis of proximal tibia" EXACT []
xref: ICD10CM:M92.52
xref: NCI:C34874
is_a: DOID:3342 ! bone inflammation disease
is_a: DOID:8125 ! osteochondrosis

[Term]
id: DOID:749
name: active peptic ulcer disease
synonym: "GI Bleeding" EXACT []
is_a: DOID:750 ! peptic ulcer disease
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:7491
name: vulvar proximal-type epithelioid sarcoma
xref: NCI:C40319
is_a: DOID:2096 ! vulvar sarcoma
is_a: DOID:7492 ! central epithelioid sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:7492
name: central epithelioid sarcoma
xref: NCI:C27472
is_a: DOID:6193 ! epithelioid sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:7497
name: brain ependymoma
def: "A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children. (DO)" [https://en.wikipedia.org/wiki/Ependyma "DO", https://en.wikipedia.org/wiki/Ependymoma "DO"]
synonym: "ependymal tumor of brain" EXACT []
synonym: "ependymoma of brain" EXACT []
xref: NCI:C3861
is_a: DOID:0060108 ! brain glioma
is_a: DOID:5612 ! spinal cancer
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:75
name: lymphatic system disease
def: "An immune system disease that is located_in the lymphatic system. (DO)" [http://en.wikipedia.org/wiki/Lymphatic_disease "DO", http://www.nlm.nih.gov/medlineplus/lymphaticdiseases.html "DO"]
synonym: "disease of lympoid system" EXACT []
synonym: "disorder of lymphatic system" EXACT []
synonym: "disorder of lymph node and lymphatics" EXACT []
synonym: "disorder of lymphoid system" EXACT []
synonym: "lymphangiopathy" EXACT []
synonym: "lymphatic disease" EXACT []
synonym: "lymphatic diseases" EXACT []
synonym: "lymphatic disorder" EXACT []
synonym: "lymphatism" EXACT []
synonym: "lympoid system disease" EXACT []
synonym: "status lymphaticus" EXACT []
xref: EFO:0007352
xref: MESH:D008206
is_a: DOID:2914 ! immune system disease
is_a: DOID:9008080 ! Hemic and Lymphatic Diseases

[Term]
id: DOID:750
name: peptic ulcer disease
def: "Ulcer that occurs in the regions of the GASTROINTESTINAL TRACT which come into contact with GASTRIC JUICE containing PEPSIN and GASTRIC ACID. It occurs when there are defects in the MUCOSA barrier. The common forms of peptic ulcers are associated with HELICOBACTER PYLORI and the consumption of nonsteroidal anti-inflammatory drugs (NSAIDS)." [MESH:D010437]
synonym: "acute peptic ulcer with hemorrhage" EXACT []
synonym: "acute peptic ulcer with hemorrhage and perforation" EXACT []
synonym: "acute peptic ulcer without hemorrhage and without perforation" EXACT []
synonym: "Gastroduodenal Ulcer" EXACT []
synonym: "gastroduodenal ulcers" EXACT []
synonym: "Marginal Ulcer" EXACT []
synonym: "Marginal Ulcers" EXACT []
synonym: "peptic ulcer" EXACT []
synonym: "peptic ulcers" EXACT []
synonym: "PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF" RELATED []
xref: ICD10CM:K27
xref: ICD9CM:533
xref: MESH:D010437
xref: MONDO:0004247
xref: NCI:C3318
is_a: DOID:4072 ! duodenum disease
is_a: DOID:76 ! stomach disease
is_a: DOID:9005175 ! Ulcer

[Term]
id: DOID:7501
name: childhood infratentorial ependymoma
synonym: "pediatric infratentorial ependymoma" EXACT []
xref: NCI:C9041
is_a: DOID:4706 ! infratentorial cancer
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:7502
name: childhood supratentorial ependymoma
synonym: "paediatric cerebral ependymoma" EXACT []
synonym: "paediatric supratentorial ependymoblastoma" EXACT []
synonym: "paediatric supratentorial ependymoma" EXACT []
synonym: "pediatric cerebral ependymoma" EXACT []
synonym: "pediatric supratentorial ependymoblastoma" EXACT []
synonym: "pediatric supratentorial ependymoma" EXACT []
xref: EFO:0008495
xref: NCI:C9043
is_a: DOID:1659 ! supratentorial cancer
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:7503
name: extrahepatic bile duct papillary adenoma
def: "An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20690568 "DO"]
synonym: "papillary adenoma of the extrahepatic bile duct" EXACT []
xref: NCI:C5849
is_a: DOID:3172 ! papillary adenoma
is_a: DOID:5438 ! extrahepatic bile duct adenoma
is_a: DOID:5468 ! biliary papillomatosis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:7505
name: small intestine benign neoplasm
synonym: "neoplasm of small intestine" EXACT []
synonym: "small intestinal neoplasm" EXACT []
synonym: "Small Intestinal Tubular Adenoma" NARROW []
synonym: "Small Intestinal Tubulovillous Adenoma" NARROW []
xref: EFO:1000538
xref: EFO:1000539
xref: NCI:C3600
xref: NCI:C4432
is_a: DOID:4610 ! intestinal benign neoplasm
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:7506
name: small intestinal L-cell glucagon-like peptide producing tumor
xref: NCI:C27452
is_a: DOID:10154 ! small intestine cancer
created_by: rgd
creation_date: 2017-11-09T00:00:00Z

[Term]
id: DOID:7511
name: breast intraductal papillomatosis
alt_id: DOID:1634
def: "A benign breast neoplasm characterized by the presence of multiple intraductal papillomas. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23640929 "DO"]
synonym: "breast papillomatosis" EXACT []
synonym: "intraductal papillomatosis of the breast" EXACT []
synonym: "papillomatosis of the breast" EXACT []
xref: NCI:C5201
is_a: DOID:0060082 ! breast benign neoplasm
is_a: DOID:2615 ! papilloma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7514
name: Wolffian adnexal neoplasm
synonym: "Female adnexal tumor of probable Wolffian origin" EXACT []
synonym: "Wolffian adenoma" EXACT []
synonym: "Wolffian adnexal tumor" EXACT []
synonym: "Wolffian tumor" EXACT []
xref: MESH:C536741
xref: NCI:C40141
is_a: DOID:5727 ! uterine ligament cancer
is_a: DOID:657 ! adenoma
is_a: DOID:9003261 ! Adnexal Diseases

[Term]
id: DOID:7515
name: lumbar spinal canal and spinal cord meningioma
synonym: "meningioma of Lumbar Spinal canal and Spinal Cord" EXACT [NCI2004_11_17:C5298]
xref: NCI:C5298
is_a: DOID:1140 ! spinal canal and spinal cord meningioma

[Term]
id: DOID:7516
name: childhood central nervous system mixed germ cell tumor
def: "A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq "DO"]
xref: ICD-O:M9085/3
xref: NCI:C27403
xref: RDO:9003460
is_a: DOID:1319 ! brain cancer
is_a: DOID:6052 ! central nervous system childhood germ cell tumor
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:7518
name: inhibited female orgasm
synonym: "female orgasmic disorder" EXACT []
xref: ICD10CM:F52.31
xref: ICD9CM:302.73
xref: NCI:C34958
is_a: DOID:229 ! female reproductive system disease
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:7519
name: endocervical carcinoma
def: "A cervix carcinoma that is located_in the endocervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2067992 "DO"]
synonym: "carcinoma of endocervix" EXACT []
synonym: "carcinoma of the endocervix" EXACT []
is_a: DOID:2893 ! cervix carcinoma
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:752
name: peptic ulcer perforation
def: "Penetration of a PEPTIC ULCER through the wall of DUODENUM or STOMACH allowing the leakage of luminal contents into the PERITONEAL CAVITY." [MESH:D010439]
synonym: "acute peptic ulcer with perforation" EXACT []
synonym: "peptic ulcer perforations" EXACT []
synonym: "peptic ulcer with perforation" EXACT []
synonym: "perforated peptic ulcer" EXACT []
xref: EFO:1001389
xref: MESH:D010439
xref: MONDO:0004260
is_a: DOID:750 ! peptic ulcer disease

[Term]
id: DOID:7520
name: periductal breast myoepitheliosis
def: "A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23533258 "DO"]
xref: NCI:C40388
is_a: DOID:7521 ! breast myoepitheliosis
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:7521
name: breast myoepitheliosis
def: "A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts. (DO)" [http://www.pathologyoutlines.com/topic/breastmyoepithelioma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/1709559 "DO"]
xref: NCI:C40385
is_a: DOID:3004 ! breast myoepithelial neoplasm
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:7522
name: childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered
def: "A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6773 "DO"]
synonym: "childhood infratentorial ependymoblastoma" EXACT []
synonym: "pediatric infratentorial ependymoblastoma" EXACT []
xref: NCI:C6773
is_a: DOID:4207 ! childhood infratentorial neoplasm
is_a: DOID:7841 ! childhood embryonal tumor with multilayered rosettes, C19MC-altered
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:7527
name: acute gonococcal endometritis
def: "An acute endometritis that is caused by gonorrhea. (DO)" [https://en.wikipedia.org/wiki/Endometritis "DO"]
synonym: "acute gonorrhea of uterus" EXACT []
synonym: "gonococcal endometritis" EXACT []
synonym: "uterus - acute gonorrhoea" EXACT []
xref: ICD9CM:098.16
is_a: DOID:7528 ! acute endometritis
is_a: DOID:9008538 ! Neisseriaceae Infections
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7528
name: acute endometritis
def: "An endometritis that is characterized by onset within the past 1 - 3 days. (DO)" [https://librepathology.org/wiki/Endometritis "DO", https://www.ncbi.nlm.nih.gov/pubmed/23537790 "DO"]
xref: NCI:C27022
is_a: DOID:1002 ! endometritis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7531
name: anal gland adenocarcinoma
def: "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"]
synonym: "adenocarcinoma of anal ducts" EXACT [SNOMEDCT_2005_07_31:128655006]
synonym: "adenocarcinoma of anal gland" RELATED []
synonym: "anal glands adenocarcinoma" EXACT [NCI2004_11_17:C5609]
xref: NCI:C5609
xref: RDO:9004686
is_a: DOID:3447 ! anus adenocarcinoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:7532
name: squamous papillomatosis
xref: ICDO:8060/0
xref: NCI:C9009
xref: RDO:9004103
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:2615 ! papilloma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:7533
name: subareolar duct papillomatosis
xref: NCI:C9008
is_a: DOID:3003 ! nipple benign neoplasm

[Term]
id: DOID:7537
name: breast cystic hypersecretory carcinoma
def: "A breast secretory carcinoma that is characterized by numerous cysts of varying sizes containing gelatinous material on gross examination, microscopically dilated ducts containing eosinophilic secretion and the absence of micropapillary pattern and cytological atypia in the lining epithelium. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535374/ "DO"]
synonym: "cystic hypersecretory carcinoma of the breast" RELATED []
synonym: "cystic hypersecretory duct carcinoma of the breast" EXACT [NCI2004_11_17:C6869]
is_a: DOID:4922 ! breast secretory carcinoma

[Term]
id: DOID:7538
name: breast ductal adenoma
def: "A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component. (DO)" [http://surgpathcriteria.stanford.edu/breast/ductaladenomabr/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25862065 "DO"]
xref: NCI:C40384
is_a: DOID:1625 ! breast adenoma

[Term]
id: DOID:7539
name: pregnancy adenoma
def: "A breast adenoma that occurs during pregnancy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25835417 "DO"]
synonym: "lactating adenoma" EXACT []
xref: NCI:C9473
is_a: DOID:1625 ! breast adenoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:754
name: bladder tuberculosis
def: "An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles. (DO)" [https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"]
synonym: "tuberculosis of bladder" EXACT []
synonym: "tuberculous cystitis" EXACT []
xref: ICD10CM:A18.12
xref: ICD9CM:016.1
is_a: DOID:2149 ! urogenital tuberculosis
is_a: DOID:365 ! bladder disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:7540
name: breast apocrine adenoma
def: "A breast adenoma that is characterized by apocine differentiation. (DO)" [http://surgpathcriteria.stanford.edu/breast/apocrineadenomabr/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/17936522 "DO"]
xref: NCI:C40383
is_a: DOID:1625 ! breast adenoma
is_a: DOID:3895 ! apocrine adenoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:7541
name: mixed epithelial/mesenchymal metaplastic breast carcinoma
def: "A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976087/ "DO"]
xref: NCI:C40364
xref: RDO:9001812
is_a: DOID:4680 ! breast metaplastic carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:7542
name: osteosarcoma arising in bone Paget's disease
synonym: "osteosarcoma arising in bone Paget disease" EXACT []
synonym: "osteosarcoma arising in osseous Paget's disease" EXACT []
xref: NCI:C6469
is_a: DOID:3376 ! bone osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:7549
name: ceruminoma
synonym: "ceruminous adenoma" EXACT []
xref: NCI:C6088
is_a: DOID:5876 ! apocrine sweat gland neoplasm
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:7551
name: gonorrhea
def: "A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. (DO)" [http://www.cdc.gov/std/gonorrhea/STDFact-gonorrhea.htm "DO"]
synonym: "chronic gonococcal infectious disease of lower genitourinary tract" EXACT []
synonym: "chronic gonococcal infectious disease of upper genitourinary tract" EXACT []
synonym: "gonorrheas" EXACT []
xref: ICD10CM:A54
xref: ICD9CM:098
xref: MESH:D006069
xref: NCI:C35730
xref: NCI:C92950
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:1962 ! fallopian tube disease
is_a: DOID:3128 ! anus disease
is_a: DOID:345 ! uterine disease
is_a: DOID:5614 ! eye disease
is_a: DOID:732 ! urethral disease
is_a: DOID:9006980 ! Bacterial Sexually Transmitted Diseases
is_a: DOID:9008538 ! Neisseriaceae Infections

[Term]
id: DOID:7553
name: infiltrating bladder urothelial carcinoma sarcomatoid variant
synonym: "Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements" EXACT []
synonym: "Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements" EXACT []
xref: EFO:1000303
xref: NCI:C39824
is_a: DOID:6477 ! invasive bladder transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:7558
name: glossopharyngeal motor neuropathy
synonym: "glossopharyngeal motor neuropathies" EXACT []
xref: NCI:C27212
is_a: DOID:3418 ! glossopharyngeal nerve disease
is_a: DOID:683 ! motor neuritis
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:7559
name: asymmetric motor neuropathy
xref: NCI:C27953
xref: RDO:9003097
is_a: DOID:683 ! motor neuritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:7565
name: vulvar eccrine porocarcinoma
def: "A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105286/ "DO"]
xref: NCI:C40306
is_a: DOID:1294 ! vulva carcinoma
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:7566
name: eccrine porocarcinoma
alt_id: RDO:0007777
def: "A rare malignant neoplasm of the sweat glands. It most often develops as a form of degenerative progression from a benign ECCRINE POROMA." [MESH:D057090]
synonym: "Eccrine porocarcinoma of skin" EXACT [SNOMEDCT_2005_07_31:254708001]
synonym: "Eccrine Porocarcinomas" EXACT []
synonym: "Malignant Eccrine Poroma" EXACT []
synonym: "Malignant Eccrine Poromas" EXACT []
synonym: "Porocarcinoma" EXACT [SNOMEDCT_2005_07_31:128685001]
xref: EFO:1000229
xref: GARD:7431
xref: MESH:D057090
xref: NCI:C5560
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:4921 ! eccrine sweat gland cancer

[Term]
id: DOID:7567
name: vulvar clear cell hidradenocarcinoma
def: "A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8428700/ "DO"]
xref: NCI:C40307
is_a: DOID:1294 ! vulva carcinoma
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:7571
name: malignant cystic nephroma
synonym: "malignant multilocular cystic nephroma" EXACT []
xref: ICDO:8959/3
is_a: DOID:0080616 ! kidney cortex disease
is_a: DOID:263 ! kidney cancer
created_by: rgd
creation_date: 2017-11-15T00:00:00Z

[Term]
id: DOID:7574
name: pancreatic intraductal papillary-colloid carcinoma
synonym: "intraductal papillary-mucinous carcinoma of pancreas" EXACT []
synonym: "pancreatic intraductal papillary-mucinous carcinoma" EXACT []
xref: MONDO:0004285
xref: NCI:C5725
xref: ORDO:424058
is_a: DOID:4074 ! pancreatic adenocarcinoma
is_a: DOID:7575 ! pancreatic intraductal papillary-mucinous neoplasm
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:7575
name: pancreatic intraductal papillary-mucinous neoplasm
def: "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38342 "DO"]
synonym: "pancreatic intraductal neoplasms" BROAD []
xref: NCI:C38342
is_a: DOID:1795 ! malignant exocrine pancreas neoplasm
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:7577
name: pancreatic foamy gland adenocarcinoma
xref: NCI:C37256
xref: RDO:9002960
is_a: DOID:4074 ! pancreatic adenocarcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:7578
name: breast scirrhous carcinoma
def: "A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132957/ "DO"]
synonym: "infiltrating carcinoma of breast with fibrotic stroma" EXACT []
synonym: "scirrhous carcinoma of breast" RELATED []
xref: NCI:C7362
is_a: DOID:3459 ! breast carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:758
name: situs inversus
def: "A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs. (DO)" [https://en.wikipedia.org/wiki/Situs_inversus "DO", https://rarediseases.info.nih.gov/diseases/4883/situs-inversus "DO"]
synonym: "complete transposition" EXACT []
synonym: "laterality sequence" EXACT []
synonym: "situs inversus totalis" EXACT []
synonym: "situs inversus viscerum" EXACT []
xref: GARD:4883
xref: ICD10CM:Q89.3
xref: ICD9CM:759.3
xref: MESH:D012857
xref: NCI:C87121
is_a: DOID:0050545 ! visceral heterotaxy
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:7583
name: glottis verrucous carcinoma
synonym: "glottic verrucous carcinoma" EXACT []
synonym: "verrucous carcinoma of glottis" EXACT []
xref: NCI:C8189
is_a: DOID:3752 ! larynx verrucous carcinoma
is_a: DOID:7031 ! glottis squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:7584
name: subglottis verrucous carcinoma
synonym: "verrucous carcinoma of subglottis" EXACT []
synonym: "verrucous carcinoma of the subglottis" EXACT []
xref: NCI:C8190
is_a: DOID:3737 ! verrucous carcinoma
is_a: DOID:7585 ! subglottis squamous cell carcinoma

[Term]
id: DOID:7585
name: subglottis squamous cell carcinoma
def: "Epidermoid carcinoma of the Subglottis." []
synonym: "epidermoid carcinoma of the subglottis" EXACT []
xref: NCI:C8187
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:7764 ! subglottis carcinoma

[Term]
id: DOID:7586
name: supraglottis verrucous carcinoma
synonym: "verrucous carcinoma of Supraglottis" EXACT [NCI2004_11_17:C8191]
synonym: "verrucous carcinoma of the supraglottis" EXACT []
xref: NCI:C8191
is_a: DOID:3737 ! verrucous carcinoma
is_a: DOID:7587 ! supraglottis squamous cell carcinoma

[Term]
id: DOID:7587
name: supraglottis squamous cell carcinoma
synonym: "Epidermoid carcinoma of the Supraglottis" EXACT [NCI2004_11_17:C4945]
xref: NCI:C4945
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:7763 ! carcinoma of supraglottis

[Term]
id: DOID:7591
name: gestational ovarian choriocarcinoma
def: "A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520233/ "DO"]
xref: NCI:C40442
is_a: DOID:5550 ! choriocarcinoma of ovary

[Term]
id: DOID:7596
name: asbestos-related lung carcinoma
xref: NCI:C27925
xref: RDO:9002009
is_a: DOID:3905 ! lung carcinoma
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:7598
name: cervical lymphoepithelioma-like carcinoma
def: "A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28217683 "DO"]
xref: NCI:C40193
is_a: DOID:3744 ! cervical squamous cell carcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:7599
name: lymphoepithelioma-like thymic carcinoma
synonym: "lymphoepithelioma-like carcinoma of the thymus" EXACT []
xref: NCI:C7998
is_a: DOID:3284 ! thymic carcinoma

[Term]
id: DOID:76
name: stomach disease
def: "A gastrointestinal system disease that is located_in the stomach. (DO)" [http://en.wikipedia.org/wiki/Stomach_disease "DO"]
synonym: "Gastric Disease" EXACT []
synonym: "Gastric Diseases" EXACT []
synonym: "gastropathy" EXACT []
synonym: "stomach diseases" EXACT []
synonym: "stomach disorder" EXACT []
xref: EFO:0009608
xref: MESH:D013272
xref: NCI:C26886
is_a: DOID:77 ! gastrointestinal system disease

[Term]
id: DOID:7600
name: infiltrating bladder lymphoepithelioma-like carcinoma
xref: EFO:1000302
xref: NCI:C39821
is_a: DOID:6477 ! invasive bladder transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:7602
name: conventional osteosarcoma
alt_id: DOID:3378
def: "A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. (DO)" [https://radiopaedia.org/articles/osteosarcoma "DO"]
synonym: "conventional central osteosarcoma" EXACT []
synonym: "COS" EXACT []
synonym: "intracortical osteogenic sarcoma" EXACT []
synonym: "intracortical osteosarcoma" EXACT []
synonym: "Low Grade Central Osteosarcoma" NARROW []
synonym: "medullary osteosarcoma" EXACT []
xref: EFO:1000327
xref: ICDO:9195/3
xref: NCI:C35870
is_a: DOID:3376 ! bone osteosarcoma

[Term]
id: DOID:7603
name: fibrosarcomatous osteosarcoma
synonym: "fibroblastic osteosarcoma" EXACT []
synonym: "fibrosarcomatous osteogenic sarcoma" EXACT []
xref: NCI:C4020
is_a: DOID:7602 ! conventional osteosarcoma

[Term]
id: DOID:7607
name: chief cell adenoma
synonym: "Chief cell adenoma of Parathyroid gland" EXACT [NCI2004_11_17:C4154]
xref: ICDO:8321/0
xref: NCI:C4154
xref: RDO:9003924
is_a: DOID:7608 ! parathyroid adenoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7608
name: parathyroid adenoma
def: "A parathyroid gland benign neoplam that is located_in the parathyroid. (DO)" [https://en.wikipedia.org/wiki/Parathyroid_adenoma "DO"]
synonym: "adenoma of parathyroid" EXACT []
synonym: "adenoma of the parathyroid gland" EXACT []
synonym: "parathyroid adenomas" EXACT []
synonym: "parathyroid adenoma, somatic" NARROW []
xref: EFO:1001087
xref: NCI:C156757
is_a: DOID:60008 ! parathyroid gland benign neoplasm
is_a: DOID:657 ! adenoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7609
name: parathyroid transitional clear cell adenoma
synonym: "Clear cell adenoma of the Parathyroid" EXACT [NCI2004_11_17:C7993]
xref: NCI:C7993
xref: RDO:9003926
is_a: DOID:7608 ! parathyroid adenoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7610
name: mixed cell type adenoma of parathyroid
synonym: "mixed cell type adenoma of the Parathyroid gland" EXACT [NCI2004_11_17:C7994]
xref: NCI:C7994
xref: RDO:9003927
is_a: DOID:7608 ! parathyroid adenoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7611
name: parathyroid oncocytic adenoma
xref: NCI:C27393
xref: RDO:9003929
is_a: DOID:7608 ! parathyroid adenoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7612
name: childhood intracortical osteosarcoma
xref: ICD-O:M9195/3
xref: NCI:C6590
is_a: DOID:7602 ! conventional osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:7613
name: sarcomatosis of the meninges
synonym: "meningeal sarcomatosis" EXACT []
synonym: "sarcomatosis of meninges" EXACT []
xref: NCI:C4334
is_a: DOID:7614 ! meninges sarcoma
is_a: DOID:7615 ! sarcomatosis
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:7614
name: meninges sarcoma
synonym: "meningeal sarcoma" EXACT []
synonym: "sarcoma of meninges" EXACT []
xref: NCI:C4073
is_a: DOID:2133 ! central nervous system sarcoma
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:7615
name: sarcomatosis
def: "A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. (DO)" [https://www.merriam-webster.com/dictionary/sarcomatosis "DO"]
xref: ICDO:8800/9
xref: NCI:C4243
is_a: DOID:1115 ! sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:7631
name: adult embryonal tumor with multilayered rosettes, C19MC-altered
def: "An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/ "DO"]
synonym: "adult ependymoblastoma" EXACT []
xref: NCI:C8290
is_a: DOID:0080903 ! embryonal tumor with multilayered rosettes, C19MC-altered
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:7632
name: Cowper gland carcinoma
def: "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland. (DO)" [http://en.wikipedia.org/wiki/Cowper_gland "DO"]
xref: NCI:C39864
is_a: DOID:305 ! carcinoma
is_a: DOID:3856 ! male reproductive organ cancer
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:7633
name: macular holes
synonym: "macular hole" EXACT []
xref: EFO:1001028
xref: NCI:C34795
is_a: DOID:12514 ! retinal perforation

[Term]
id: DOID:7634
name: suprasellar meningioma
xref: NCI:C6776
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:7635
name: Gasserian ganglion meningioma
synonym: "meningioma of Gasserian ganglion" EXACT []
xref: NCI:C6779
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:7639
name: malignant granular cell skin tumor
synonym: "malignant granular cell skin neoplasm" EXACT []
synonym: "malignant granular cell skin tumour" EXACT []
synonym: "malignant granular cell tumor of skin" EXACT []
synonym: "malignant granular cell tumour of skin" EXACT []
xref: NCI:C5614
xref: RDO:9002985
is_a: DOID:5274 ! malignant dermis tumor
is_a: DOID:9008863 ! Malignant Granular Cell Tumor
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:7642
name: cholangiolocellular carcinoma
xref: NCI:C41617
xref: RDO:9002874
is_a: DOID:4928 ! intrahepatic cholangiocarcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:7643
name: acantholytic squamous cell skin carcinoma
synonym: "acantholytic squamous cell carcinoma of skin" EXACT []
xref: NCI:C4460
is_a: DOID:3151 ! skin squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:7646
name: multiple spinal canal and spinal cord meningioma
synonym: "Multiple meningiomas of the Spinal canal and Spinal Cord" EXACT [NCI2004_11_17:C5275]
xref: NCI:C5275
is_a: DOID:1140 ! spinal canal and spinal cord meningioma

[Term]
id: DOID:7650
name: pulmonary type ovarian small cell carcinoma
def: "An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23896708 "DO"]
xref: NCI:C40440
is_a: DOID:6179 ! ovarian small cell carcinoma

[Term]
id: DOID:7651
name: small-cell carcinoma of the ovary of hypercalcemic type
def: "An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939673/ "DO"]
synonym: "hypercalcemic type ovarian small cell carcinoma" EXACT []
xref: NCI:C40439
is_a: DOID:6179 ! ovarian small cell carcinoma
created_by: rgd
creation_date: 2017-10-04T00:00:00Z

[Term]
id: DOID:7656
name: adult infiltrating astrocytic neoplasm
synonym: "adult infiltrating astrocytic tumor" EXACT []
synonym: "adult infiltrating astrocytoma" EXACT []
xref: NCI:C8289
is_a: DOID:3076 ! adult astrocytic tumor
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:7664
name: endometrial mixed adenocarcinoma
def: "An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component. (DO)" [http://www.pathologyoutlines.com/topic/uterusmixedcarcinoma.html "DO"]
xref: NCI:C40153
is_a: DOID:2870 ! endometrial adenocarcinoma
created_by: rgd
creation_date: 2017-09-15T00:00:00Z

[Term]
id: DOID:7665
name: non-gestational ovarian choriocarcinoma
def: "An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20090265 "DO"]
xref: NCI:C39991
xref: RDO:9005067
is_a: DOID:5351 ! ovarian primitive germ cell tumor
is_a: DOID:5550 ! choriocarcinoma of ovary
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:767
name: muscular atrophy
def: "Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation." [MESH:D009133]
synonym: "Amyotrophia" EXACT [MTHICD9_2006:728.2]
synonym: "Muscle Atrophies" EXACT []
synonym: "Muscle Atrophy" EXACT []
synonym: "muscle wasting" EXACT []
synonym: "Muscular Atrophies" EXACT []
synonym: "Neurogenic Muscular Atrophies" EXACT []
synonym: "Neurogenic Muscular Atrophy" EXACT []
synonym: "Neurotrophic Muscular Atrophies" EXACT []
synonym: "Neurotrophic Muscular Atrophy" EXACT []
xref: EFO:0009851
xref: EFO:0009912
xref: MESH:D009133
xref: NCI:C94834
is_a: DOID:423 ! myopathy
is_a: DOID:9000165 ! Neuromuscular Manifestations
is_a: DOID:9004462 ! Atrophy

[Term]
id: DOID:7675
name: testicular fibroma
xref: NCI:C39951
is_a: DOID:0060087 ! male reproductive organ benign neoplasm
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7676
name: testicular thecoma
xref: NCI:C39952
is_a: DOID:0060087 ! male reproductive organ benign neoplasm
is_a: DOID:9008813 ! Thecoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7678
name: sphenoid sinus inverted papilloma
synonym: "Inverted papilloma of the sphenoid sinus" EXACT []
xref: NCI:C6841
is_a: DOID:3179 ! inverted papilloma
is_a: DOID:6947 ! sphenoidal sinus benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:7679
name: sphenoid sinus Schneiderian papilloma
synonym: "Schneiderian papilloma of the sphenoid sinus" EXACT []
xref: NCI:C6838
is_a: DOID:2615 ! papilloma
is_a: DOID:6947 ! sphenoidal sinus benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:768
name: retinoblastoma
alt_id: MIM:180200
def: "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. (DO)" [http://www.cancer.gov/cancertopics/types/retinoblastoma "DO"]
synonym: "eye cancer, retinoblastoma" EXACT []
synonym: "neuroblastoma of retina" EXACT []
synonym: "RB" EXACT []
synonym: "RB1" EXACT []
synonym: "RB - retinoblastoma" EXACT []
synonym: "Retinal Glioblastoma" EXACT []
synonym: "Retinal Glioblastomas" EXACT []
synonym: "Retinal Glioma" EXACT []
synonym: "Retinal Gliomas" EXACT []
synonym: "Retinal Neuroblastoma" EXACT []
synonym: "Retinal Neuroblastomas" EXACT []
synonym: "retinoblastomas" EXACT []
synonym: "sporadic retinoblastoma" EXACT []
synonym: "sporadic retinoblastomas" EXACT []
xref: EFO:0002923
xref: EFO:0005717
xref: GARD:7563
xref: ICDO:9510/3
xref: MESH:D012175
xref: NCI:C42596
xref: NCI:C6956
xref: NCI:C7541
xref: ORDO:790
is_a: DOID:7305 ! astroblastoma
is_a: DOID:771 ! retinal cell cancer

[Term]
id: DOID:7684
name: maxillary sinus adenocarcinoma
synonym: "adenocarcinoma of maxillary sinus" EXACT []
synonym: "adenocarcinoma of the maxillary sinus" EXACT []
xref: NCI:C6240
is_a: DOID:1357 ! maxillary sinus cancer
is_a: DOID:299 ! adenocarcinoma
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:7685
name: pancreatic non-invasive intraductal papillary-mucinous carcinoma
xref: NCI:C41251
is_a: DOID:7574 ! pancreatic intraductal papillary-colloid carcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:7689
name: leptomeninges sarcoma
synonym: "Leptomeningeal sarcoma" EXACT [SNOMEDCT_2005_07_31:78303004]
synonym: "sarcoma of Leptomeninges" EXACT [NCI2004_11_17:C8312]
xref: NCI:C8312
xref: RDO:9004626
is_a: DOID:2133 ! central nervous system sarcoma
is_a: DOID:6086 ! malignant leptomeningeal neoplasm
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:769
name: neuroblastoma
alt_id: MIM:256700
alt_id: MIM:613015
alt_id: MIM:613016
alt_id: MIM:613017
alt_id: MIM:616792
def: "An autonomic nervous system neoplasm that derives_from immature nerve cells. (DO)" [http://www.cancer.gov/cancertopics/types/neuroblastoma "DO"]
synonym: "LIM DOMAIN ONLY-1 POLYMORPHISM" RELATED []
synonym: "NBLST1" RELATED []
synonym: "NBLST4" RELATED []
synonym: "NBLST5" RELATED []
synonym: "NBLST6" RELATED []
synonym: "NBLST7" RELATED []
synonym: "neuroblastomas" EXACT []
synonym: "neuroblastoma susceptibility" RELATED []
synonym: "neuroblastoma, susceptibility to" RELATED []
synonym: "neuroblastoma, susceptibility to, 1" RELATED []
synonym: "neuroblastoma, susceptibility to, 4" RELATED []
synonym: "neuroblastoma, susceptibility to, 5" RELATED []
synonym: "neuroblastoma, susceptibility to, 6" RELATED []
synonym: "neuroblastoma, susceptibility to, 7" RELATED []
xref: EFO:0000621
xref: GARD:7185
xref: ICD-O:M9500/3
xref: MESH:D009447
xref: NCI:C121567
xref: NCI:C21993
xref: NCI:C3270
xref: ORDO:635
is_a: DOID:2621 ! autonomic nervous system neoplasm
is_a: DOID:9007058 ! Primitive Peripheral Neuroectodermal Tumors
is_a: DOID:9008058 ! Neuroblastic Tumor

[Term]
id: DOID:7693
name: abdominal aortic aneurysm
def: "An aortic aneurysm that is located_in the abdominal aorta. (DO)" [http://en.wikipedia.org/wiki/Aortic_aneurysm "DO"]
synonym: "AAA" EXACT []
synonym: "Abdominal Aortic Aneurysms" EXACT []
synonym: "familial abdominal aortic aneurysm" RELATED []
synonym: "sporadic abdominal aortic aneurysm" NARROW []
xref: EFO:0004214
xref: GARD:9181
xref: MESH:D017544
xref: MIM:PS100070
xref: NCI:C27000
is_a: DOID:3627 ! aortic aneurysm

[Term]
id: DOID:7694
name: bladder urachal adenocarcinoma
xref: NCI:C39843
is_a: DOID:3711 ! bladder adenocarcinoma
is_a: DOID:5958 ! bladder urachal carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:7696
name: lung hilum cancer
synonym: "malignant tumor of lung hilum" EXACT []
synonym: "primary malignant neoplasm of hilus of lung" EXACT []
is_a: DOID:1324 ! lung cancer
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:7697
name: pancreatic ACTH hormone producing tumor
synonym: "pancreatic ACTH hormone producing tumour" EXACT []
synonym: "pancreatic Adrenocorticotropic Hormone Producing tumor" EXACT [NCI2004_11_17:C27466]
synonym: "pancreatic Adrenocorticotropic Hormone Producing tumour" EXACT []
xref: NCI:C27466
xref: RDO:9004597
is_a: DOID:1799 ! islet cell tumor
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:7698
name: non-functioning pancreatic endocrine tumor
synonym: "Non-functioning endocrine pancreatic tumors" EXACT []
xref: MESH:C536126
xref: NCI:C45837
xref: RDO:0001571
is_a: DOID:1793 ! pancreatic cancer
is_a: DOID:1799 ! islet cell tumor

[Term]
id: DOID:77
name: gastrointestinal system disease
alt_id: DOID:9005183
def: "A disease of anatomical entity that is located_in the gastrointestinal tract. (DO)" [http://en.wikipedia.org/wiki/Human_gastrointestinal_tract "DO"]
subset: RGD_JBrowse_slim
synonym: "alimentary system disease" EXACT []
synonym: "Cholera Infantum" EXACT []
synonym: "digestive system disease" EXACT []
synonym: "digestive system diseases" EXACT []
synonym: "digestive system disorder" EXACT []
synonym: "Functional Gastrointestinal Disorder" EXACT []
synonym: "functional gastrointestinal disorders" EXACT []
synonym: "gastroenteropathy" EXACT []
synonym: "gastrointestinal disease" EXACT []
synonym: "Gastrointestinal Diseases" EXACT []
synonym: "gastrointestinal disorder" EXACT []
synonym: "GIT disease" EXACT []
xref: EFO:0000405
xref: EFO:0010282
xref: ICD10CM:K92.9
xref: ICD9CM:520-579.99
xref: MESH:D004066
xref: MESH:D005767
is_a: DOID:7 ! disease of anatomical entity

[Term]
id: DOID:7707
name: rectum signet ring adenocarcinoma
synonym: "Signet Ring cell adenocarcinoma of rectum" EXACT [NCI2004_11_17:C9168]
xref: NCI:C9168
xref: RDO:9004663
is_a: DOID:1996 ! rectum adenocarcinoma
is_a: DOID:3493 ! signet ring cell adenocarcinoma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:7708
name: perianal skin Paget's disease
synonym: "perianal skin Paget disease" EXACT []
xref: NCI:C7476
is_a: DOID:3446 ! anal Paget's disease
is_a: DOID:3450 ! cutaneous Paget's disease
is_a: DOID:4284 ! anal margin carcinoma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:771
name: retinal cell cancer
def: "A malignant neoplasm that derives_from the retina. (DO)" [http://www.wrongdiagnosis.com/medical/retinal_cancer.htm "DO"]
xref: NCI:C7061
is_a: DOID:4645 ! retinal cancer
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:7713
name: tuberculum sellae meningioma
def: "meningioma of the Tuberculum Sellae" []
synonym: "meningioma of the Tuberculum Sellae" EXACT [NCI2004_11_17:C5284]
xref: NCI:C5284
is_a: DOID:3643 ! sella turcica neoplasm
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:7716
name: mixed ductal-endocrine carcinoma
xref: NCI:C6879
is_a: DOID:3498 ! pancreatic ductal adenocarcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:7717
name: colloid carcinoma of the pancreas
xref: NCI:C37214
xref: RDO:9002827
is_a: DOID:3498 ! pancreatic ductal adenocarcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:7718
name: osteoclast-like giant cell neoplasm of the pancreas
synonym: "osteoclast-like giant cell neoplasm of pancreas" EXACT []
xref: EFO:1000607
xref: RDO:9002828
is_a: DOID:3498 ! pancreatic ductal adenocarcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:7725
name: epilepsy with generalized tonic-clonic seizures
def: "An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28276060 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28842445 "DO"]
synonym: "cryptogenic tonic-clonic epilepsies" EXACT []
synonym: "Cryptogenic Tonic Clonic Epilepsy" EXACT []
synonym: "Epilepsy, Tonic-Clonic" EXACT []
synonym: "Familial Tonic-Clonic Epilepsies" EXACT []
synonym: "Familial Tonic Clonic Epilepsy" EXACT []
synonym: "GENERALIZED TONIC-CLONIC SEIZURES" EXACT []
synonym: "Grand Mal Convulsion" EXACT []
synonym: "Grand Mal Convulsions" EXACT []
synonym: "Grand Mal Epilepsy" EXACT []
synonym: "Grand Mal Seizure Disorder" EXACT []
synonym: "Major Epilepsies" EXACT []
synonym: "Major Epilepsy" EXACT []
synonym: "Major Motor Seizure Disorder" EXACT []
synonym: "Symptomatic Tonic-Clonic Epilepsies" EXACT []
synonym: "Symptomatic Tonic Clonic Epilepsy" EXACT []
synonym: "Tonic Clonic Convulsion" EXACT []
synonym: "Tonic Clonic Convulsion Disorder" EXACT []
synonym: "Tonic-Clonic Convulsion Disorders" EXACT []
synonym: "Tonic Clonic Convulsions" EXACT []
synonym: "Tonic Clonic Convulsion Syndrome" EXACT []
synonym: "Tonic-Clonic Convulsion Syndromes" EXACT []
synonym: "Tonic-Clonic Epilepsies" EXACT []
synonym: "tonic-clonic epileptic seizures" EXACT []
synonym: "Tonic Clonic Seizure Disorder" EXACT []
synonym: "Tonic-Clonic Seizure Disorders" EXACT []
synonym: "Tonic Clonic Seizure Syndrome" EXACT []
synonym: "tonic-clonic seizure syndromes" EXACT []
xref: EFO:0007262
xref: MESH:D004830
xref: NCI:C3022
is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome
is_a: DOID:9001793 ! Generalized Epilepsy

[Term]
id: DOID:7729
name: acinar cell cystadenocarcinoma
synonym: "pancreatic acinar cell cystadenocarcinoma" EXACT []
xref: ICDO:8551/3
xref: NCI:C5727
is_a: DOID:4073 ! pancreatic cystadenocarcinoma
is_a: DOID:5742 ! pancreatic acinar cell adenocarcinoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:7731
name: childhood malignant hemangiopericytoma
synonym: "malignant pediatric hemangiopericytoma" EXACT []
xref: ICD-O:M9150/3
xref: NCI:C8090
is_a: DOID:9000235 ! Malignant Hemangiopericytoma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:7732
name: childhood malignant schwannoma
synonym: "pediatric MPNST" EXACT []
xref: ICD-O:M9560/3
xref: NCI:C8094
is_a: DOID:5940 ! malignant peripheral nerve sheath tumor
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7733
name: signet ring cell intrahepatic cholangiocarcinoma
xref: NCI:C41619
is_a: DOID:3493 ! signet ring cell adenocarcinoma
is_a: DOID:4928 ! intrahepatic cholangiocarcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:7735
name: pancreatic colloid cystadenoma
synonym: "mucinous cystadenoma of pancreas" EXACT []
xref: NCI:C5718
xref: RDO:9004097
is_a: DOID:3918 ! pancreatic cystadenoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:7736
name: retinal telangiectasia
alt_id: MIM:300216
def: "A group of rare, idiopathic, congenital retinal vascular anomalies affecting the retinal capillaries. It is characterized by dilation and tortuosity of retinal vessels and formation of multiple aneurysms, with different degrees of leakage and exudates emanating from the blood vessels." [MESH:D058456]
synonym: "retinal telangiectases" EXACT []
synonym: "retinal telangiectasis" EXACT []
xref: ICD9CM:362.15
xref: MESH:D058456
is_a: DOID:1272 ! telangiectasis
is_a: DOID:2462 ! retinal vascular disease

[Term]
id: DOID:774
name: retina lymphoma
synonym: "lymphoma of retina" EXACT []
synonym: "retinal lymphoma" EXACT []
xref: NCI:C4365
is_a: DOID:4645 ! retinal cancer
is_a: DOID:6903 ! eye lymphoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:7747
name: childhood extraocular retinoblastoma
def: "An extraocular retinoblastoma that effects children. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7 "DO"]
synonym: "pediatric extraocular retinoblastoma" EXACT []
xref: ICD-O:M9510/3
xref: NCI:C9048
is_a: DOID:4656 ! extraocular retinoblastoma
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:775
name: intraocular lymphoma
def: "A form of malignant cancer which occurs within the eyeball." [MESH:D064090]
synonym: "intraocular lymphomas" EXACT []
synonym: "primary intraocular lymphoma" EXACT []
xref: MESH:D064090
xref: NCI:C9184
is_a: DOID:0060058 ! lymphoma
is_a: DOID:6903 ! eye lymphoma

[Term]
id: DOID:7750
name: adult brain ependymoma
def: "A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells. (DO)" [https://en.wikipedia.org/wiki/Ependyma "DO", https://en.wikipedia.org/wiki/Ependymoma "DO"]
xref: NCI:C9372
xref: RDO:9002180
is_a: DOID:7497 ! brain ependymoma
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:7752
name: extrahepatic biliary papillomatosis
def: "A biliary papillomatosis located_in an extrahepatic bile duct. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21988050/ "DO"]
xref: NCI:C7124
is_a: DOID:5468 ! biliary papillomatosis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7756
name: neonatal leukemia
def: "A childhood leukemia that occurs during the neonatal period. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3845 "DO"]
xref: NCI:C3845
is_a: DOID:7757 ! childhood leukemia
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:7757
name: childhood leukemia
def: "A leukemia that occurs in children. (DO)" [http://www.nlm.nih.gov/medlineplus/leukemiachildhood.html "DO"]
xref: ICD-O:M9800/3
xref: NCI:C4989
is_a: DOID:1240 ! leukemia
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:7762
name: childhood multilocular cystic kidney neoplasm
def: "A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma. (DO)" [http://radiographics.rsna.org/content/15/3/653.abstract "DO"]
synonym: "benign Multilocular cystic renal tumor" RELATED []
synonym: "childhood renal Wilms cancer" EXACT []
synonym: "pediatric Multilocular cystic renal tumor" EXACT [NCI2004_11_17:C6566]
xref: NCI:C6566
xref: RDO:9005136
is_a: DOID:3116 ! kidney benign neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:7763
name: carcinoma of supraglottis
synonym: "Supraglottic carcinoma" EXACT [NCI2004_11_17:C5973]
xref: NCI:C5973
is_a: DOID:13476 ! supraglottis cancer

[Term]
id: DOID:7764
name: subglottis carcinoma
synonym: "carcinoma of subglottis" EXACT [SNOMEDCT_2005_07_31:372104008]
synonym: "subglottic carcinoma" EXACT []
xref: NCI:C5972
is_a: DOID:11472 ! subglottis cancer

[Term]
id: DOID:7765
name: Coats disease
synonym: "Coats' disease" EXACT []
synonym: "Coats' syndrome" EXACT []
synonym: "exudative retinopathy" EXACT []
xref: GARD:6121
xref: ICD10CM:H35.02
xref: ICD9CM:362.12
is_a: DOID:7736 ! retinal telangiectasia
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:778
name: delusional disorder
def: "A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect. (DO)" [http://en.wikipedia.org/wiki/Delusional_disorder "DO"]
synonym: "delusional disorders" EXACT []
xref: ICD10CM:F22
xref: ICD9CM:297.1
xref: NCI:C94379
is_a: DOID:2468 ! psychotic disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:7787
name: breast osteosarcoma
def: "A breast sarcoma that arises from bone. (DO)" [https://en.wikipedia.org/wiki/Osteosarcoma "DO"]
synonym: "osteogenic sarcoma of breast" EXACT []
xref: NCI:C5189
is_a: DOID:3017 ! breast sarcoma
is_a: DOID:3347 ! osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:7788
name: adult spinal cord ependymoma
xref: NCI:C27399
is_a: DOID:4907 ! small intestine carcinoma
is_a: DOID:5503 ! spinal cord ependymoma
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:780
name: placenta disease
def: "A uterine disease that is located_in the placenta. (DO)" [http://en.wikipedia.org/wiki/Placenta_disease "DO"]
synonym: "placenta diseases" EXACT []
synonym: "Placenta Disorder" EXACT []
synonym: "placenta disorders" EXACT []
synonym: "Placental Disease" EXACT []
synonym: "placental diseases" EXACT []
xref: EFO:0007441
xref: GARD:7402
xref: ICD10CM:O43
xref: ICD9CM:646.9
xref: MESH:D010922
xref: NCI:C26857
xref: NCI:C27619
xref: NCI:C34941
xref: NCI:C35169
is_a: DOID:345 ! uterine disease
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:7806
name: adult spinal cord glioblastoma multiforme
synonym: "adult Spinal Cord Glioblastoma" EXACT [NCI2004_11_17:C27183]
synonym: "Glioblastoma multiforme of spinal cord" EXACT [SNOMEDCT_2005_07_31:276829003]
xref: NCI:C27183
xref: RDO:9002183
is_a: DOID:3185 ! spinal cord glioma
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:7807
name: choroid necrotic melanoma
xref: NCI:C6865
is_a: DOID:1752 ! ocular melanoma
is_a: DOID:6438 ! malignant choroid melanoma
is_a: DOID:7808 ! necrotic uveal melanoma
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:7808
name: necrotic uveal melanoma
def: "An uveal melanoma characterized by the presence of tumor cell necrosis. (DO)" [https://www.nature.com/articles/eye2016275 "DO"]
xref: NCI:C7990
is_a: DOID:6039 ! uveal melanoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7817
name: mixed astrocytoma-ependymoma-oligodendroglioma
xref: NCI:C8272
xref: RDO:9002184
is_a: DOID:5076 ! mixed glioma
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:7818
name: petroclival meningioma
xref: NCI:C5278
xref: RDO:9005047
is_a: DOID:4437 ! skull base meningioma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:7819
name: sphenoorbital meningioma
xref: NCI:C5285
xref: RDO:9005048
is_a: DOID:4437 ! skull base meningioma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:782
name: renal infectious disease
xref: ICD10CM:N15.9
xref: ICD9CM:590
xref: RDO:9003106
is_a: DOID:557 ! kidney disease
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:7820
name: sphenocavernous meningioma
xref: NCI:C5313
xref: RDO:9005049
is_a: DOID:4437 ! skull base meningioma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:7824
name: spinal multifocal clear cell meningioma
def: "Multifocal Clear cell meningioma of Spine." []
synonym: "Multifocal Clear cell meningioma of Spine" EXACT [NCI2004_11_17:C5287]
xref: NCI:C5287
is_a: DOID:1140 ! spinal canal and spinal cord meningioma

[Term]
id: DOID:7825
name: chronic toxic polyneuropathy
xref: NCI:C35603
xref: RDO:9004836
is_a: DOID:5221 ! chronic polyneuropathy
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:7826
name: adult papillary meningioma
xref: NCI:C8293
xref: RDO:9004718
is_a: DOID:5058 ! rhabdoid meningioma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:7827
name: adult extraosseous osteosarcoma
def: "An extraosseous osteosarcoma that is located_in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11786582/ "DO"]
xref: NCI:C7925
is_a: DOID:3357 ! extraosseous osteosarcoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:783
name: end stage renal disease
def: "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK499861/ "DO"]
synonym: "chronic kidney failure" EXACT []
synonym: "end stage kidney disease" EXACT []
synonym: "end stage renal failure" EXACT []
synonym: "ESRD" EXACT []
synonym: "STAGE 5 CHRONIC KIDNEY DISEASE" EXACT []
xref: EFO:0009909
xref: ICD9CM:585.6
xref: MESH:D007676
is_a: DOID:784 ! chronic kidney disease

[Term]
id: DOID:7839
name: infiltrating nipple syringomatous adenoma
def: "A nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple. (DO)" [https://www.pathologyoutlines.com/topic/breastsyringomatousadenomanipple.html "DO"]
xref: NCI:C40363
is_a: DOID:3003 ! nipple benign neoplasm
is_a: DOID:657 ! adenoma

[Term]
id: DOID:784
name: chronic kidney disease
def: "A kidney failure that is characterized by the gradual loss of kidney function. (DO)" [https://www.mayoclinic.org/diseases-conditions/chronic-kidney-disease/symptoms-causes/syc-20354521 "DO", https://www.ncbi.nlm.nih.gov/books/NBK499861/ "DO"]
synonym: "chronic kidney diseases" EXACT []
synonym: "chronic kidney insufficiencies" EXACT []
synonym: "chronic kidney insufficiency" EXACT []
synonym: "chronic renal disease" EXACT []
synonym: "chronic renal diseases" EXACT []
synonym: "chronic renal failure" EXACT []
synonym: "chronic renal failure syndrome" EXACT []
synonym: "chronic renal insufficiencies" EXACT []
synonym: "chronic renal insufficiency" EXACT []
synonym: "CKD" EXACT []
synonym: "congenital chronic kidney disease" NARROW []
synonym: "CRF" EXACT []
xref: EFO:0003884
xref: EFO:0021433
xref: ICD10CM:N18.9
xref: MESH:D051436
xref: NCI:C9438
is_a: DOID:1074 ! kidney failure

[Term]
id: DOID:7840
name: pancreatic non-functioning delta cell tumor
xref: NCI:C28333
is_a: DOID:4433 ! pancreatic delta cell neoplasm
is_a: DOID:7698 ! non-functioning pancreatic endocrine tumor
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:7841
name: childhood embryonal tumor with multilayered rosettes, C19MC-altered
def: "An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C115203 "DO"]
synonym: "childhood cerebral ependymoblastoma" EXACT []
synonym: "pediatric cerebral ependymoblastoma" EXACT []
xref: ICD-O:M9392/3
xref: NCI:C115203
is_a: DOID:0080903 ! embryonal tumor with multilayered rosettes, C19MC-altered
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:7843
name: female breast carcinoma
def: "A breast carcinoma that is manifested in the female breast. (DO)" [http://en.wikipedia.org/wiki/Breast_cancer "DO"]
synonym: "carcinoma of female breast" EXACT []
synonym: "mammary carcinoma of female breast" EXACT []
xref: NCI:C2918
is_a: DOID:0050671 ! female breast cancer
is_a: DOID:3459 ! breast carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:7848
name: interdigitating dendritic cell sarcoma
def: "A histiocytic and dendritic cell cancer that effect dendritic cells. (DO)" [http://en.wikipedia.org/wiki/Interdigitating_dendritic_cell_sarcoma "DO"]
synonym: "interdigitating cell sarcoma" EXACT []
synonym: "interdigitating cell sarcomas" EXACT []
xref: EFO:0007329
xref: ICDO:9757/3
xref: MESH:D054739
xref: NCI:C9282
is_a: DOID:2570 ! malignant histiocytic disease
is_a: DOID:5621 ! histiocytic and dendritic cell cancer

[Term]
id: DOID:7849
name: dendritic cell sarcoma
def: "A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes. (DO)" [http://findarticles.com/p/articles/mi_m0BUM/is_12_83/ai_n8704912/ "DO"]
xref: NCI:C27260
is_a: DOID:1115 ! sarcoma
is_a: DOID:5621 ! histiocytic and dendritic cell cancer
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:7851
name: pancreatic intraductal papillary-mucinous adenoma
xref: NCI:C41249
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:657 ! adenoma
is_a: DOID:7575 ! pancreatic intraductal papillary-mucinous neoplasm
created_by: rgd
creation_date: 2017-09-08T00:00:00Z

[Term]
id: DOID:786
name: laryngeal disease
def: "Pathological processes involving any part of the LARYNX which coordinates many functions such as voice production, breathing, swallowing, and coughing." [MESH:D007818]
synonym: "Dysplasia of Larynx" NARROW []
synonym: "laryngeal diseases" EXACT []
synonym: "laryngeal perichondritides" NARROW []
synonym: "Laryngeal Perichondritis" NARROW []
synonym: "Larynx Disease" EXACT []
synonym: "larynx diseases" EXACT []
xref: EFO:0009673
xref: EFO:1000227
xref: ICD10CM:J38.7
xref: ICD10CM:S12.8
xref: ICD9CM:478.70
xref: MESH:D007818
xref: NCI:C26810
is_a: DOID:9007241 ! Otorhinolaryngologic Diseases
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:7867
name: adult central nervous system germinoma
synonym: "germinoma of the adult central nervous system" EXACT [NCI2004_11_17:C5792]
xref: NCI:C5792
is_a: DOID:4438 ! central nervous system germinoma

[Term]
id: DOID:7868
name: maxillary sinus inverted papilloma
synonym: "inverted papilloma of the maxillary sinus" EXACT []
xref: NCI:C6840
is_a: DOID:1358 ! maxillary sinus benign neoplasm
is_a: DOID:3179 ! inverted papilloma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:7875
name: adult xanthogranuloma
xref: NCI:C27514
xref: RDO:9004432
is_a: DOID:4330 ! non-Langerhans-cell histiocytosis
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:7878
name: uterine corpus atypical polypoid adenomyoma
def: "An atypical polypoid adenomyoma that is located_in the uterine corpus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23590013 "DO"]
xref: NCI:C40235
xref: RDO:9002566
is_a: DOID:4993 ! atypical polypoid adenomyoma
is_a: DOID:4994 ! adenomyoma of uterine corpus
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:7880
name: luteoma
def: "An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641443/ "DO"]
synonym: "Gestational Luteoma" EXACT []
synonym: "gestational luteomas" EXACT []
synonym: "leuteoma of pregnancy" EXACT []
synonym: "Luteinoma" EXACT []
synonym: "Luteoma of Pregnancy" EXACT []
synonym: "luteomas" EXACT []
synonym: "pregnancy luteoma" EXACT []
synonym: "pregnancy luteomas" EXACT []
xref: EFO:1000434
xref: ICDO:8610/0
xref: MESH:D018311
xref: NCI:C40445
is_a: DOID:0060112 ! ovarian benign neoplasm
is_a: DOID:192 ! sex cord-gonadal stromal tumor
is_a: DOID:9002762 ! Ovarian Neoplasms

[Term]
id: DOID:7891
name: testicular spermatocytic seminoma
is_a: DOID:5834 ! spermatocytoma
is_a: DOID:5842 ! testis seminoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:7894
name: mite infestation
def: "A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae. (DO)" [http://en.wikipedia.org/wiki/Mite "DO"]
synonym: "acariasis" EXACT []
synonym: "mange" EXACT []
synonym: "mite infestations" EXACT []
xref: ICD10CM:B88.9
xref: ICD9CM:133
xref: MESH:D008924
xref: MONDO:0004389
is_a: DOID:4110 ! parasitic ectoparasitic infectious disease

[Term]
id: DOID:790
name: ocular hypotension
def: "Abnormally low intraocular pressure often related to chronic inflammation (uveitis)." [MESH:D015814]
synonym: "hypotony of eye" EXACT []
synonym: "ocular hypotony" EXACT []
xref: ICD10CM:H44.4
xref: ICD9CM:360.3
xref: MESH:D015814
xref: NCI:C172147
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:7902
name: adult extraskeletal myxoid chondrosarcoma
alt_id: DOID:6495
def: "An extraskeletal myxoid chondrosarcoma occurring in adults. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35144048/ "DO"]
comment: DO: adult myxoid chondrosarcoma Retired NCI concept.
synonym: "adult extraosseous chondrosarcoma" EXACT []
synonym: "adult myxoid chondrosarcoma" EXACT []
xref: NCI:C7924
is_a: DOID:4549 ! extraskeletal myxoid chondrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:7903
name: intracranial chondrosarcoma
xref: NCI:C5462
xref: RDO:9004151
is_a: DOID:4549 ! extraskeletal myxoid chondrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:7907
name: mixed astrocytoma-ependymoma
xref: NCI:C8271
xref: RDO:9002185
is_a: DOID:5076 ! mixed glioma
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:7910
name: maxillary sinus squamous cell carcinoma
def: "A squamous cell carcinoma that is located_in the maxillary sinus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25674251 "DO"]
synonym: "epidermoid carcinoma of the maxillofacial sinus" EXACT []
xref: NCI:C6064
is_a: DOID:1357 ! maxillary sinus cancer
is_a: DOID:1749 ! squamous cell carcinoma
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:7912
name: mixed oligodendroglioma-astrocytoma
synonym: "oligoastrocytoma" EXACT []
synonym: "WHO grade II mixed glioma" EXACT [NCI2004_11_17:C4050]
xref: EFO:0000630
xref: NCI:C129323
xref: NCI:C4050
xref: RDO:9004137
is_a: DOID:5076 ! mixed glioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:7915
name: cervical spinal canal and spinal cord meningioma
synonym: "meningioma of the cervical Spinal canal and Spinal Cord" EXACT []
xref: NCI:C5296
is_a: DOID:1140 ! spinal canal and spinal cord meningioma

[Term]
id: DOID:7921
name: mediastinal psammomatous neurilemmoma
def: "A mediastinal neurilemmoma characterized by the presence of psammoma bodies. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6636 "DO"]
synonym: "benign mediastinal psammomatous neurilemmoma" EXACT []
synonym: "benign psammomatous schwannoma of mediastinum" EXACT []
xref: NCI:C6636
is_a: DOID:6175 ! mediastinal neurilemmoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7926
name: epithelial malignant thymoma
synonym: "epithelial thymoma" EXACT []
synonym: "squamoid thymoma" EXACT []
synonym: "well differentiated thymic carcinoma" EXACT []
xref: EFO:1000583
xref: NCI:C7997
is_a: DOID:3282 ! thymoma type B
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7927
name: malignant type A thymoma
synonym: "Thymoma, medullary, malignant" EXACT []
xref: NCI:C7999
xref: RDO:9003749
is_a: DOID:3279 ! spindle cell thymoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:7928
name: testis refractory cancer
synonym: "Refractory testicular carcinoma" EXACT [NCI2004_11_17:C9077]
xref: NCI:C9077
is_a: DOID:5556 ! testicular malignant germ cell cancer

[Term]
id: DOID:7930
name: glandular-alveolar pattern testicular yolk sac tumor
xref: NCI:C39926
is_a: DOID:5344 ! testicular yolk sac tumor

[Term]
id: DOID:7936
name: refractory T lymphoblastic leukemia/lymphoma
synonym: "precursor T-lymphoblastic lymphoma/leukemia refractory" EXACT []
xref: NCI:C8696
is_a: DOID:712 ! refractory hematologic cancer
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:7941
name: Barrett's adenocarcinoma
synonym: "adenocarcinoma Arising in Barrett's Mucosa" EXACT []
synonym: "Barrett adenocarcinoma" EXACT []
xref: EFO:1001939
xref: NCI:C7027
xref: RDO:9002303
is_a: DOID:4914 ! esophagus adenocarcinoma
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:7945
name: adult central nervous system mixed germ cell tumor
def: "A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq "DO"]
xref: NCI:C27402
is_a: DOID:5349 ! central nervous system adult germ cell tumor
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:7949
name: stroma-dominant and stroma-poor composite ganglioneuroblastoma
xref: NCI:C42060
is_a: DOID:5193 ! nodular ganglioneuroblastoma

[Term]
id: DOID:7951
name: Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma
xref: NCI:C42059
is_a: DOID:5193 ! nodular ganglioneuroblastoma

[Term]
id: DOID:7953
name: nipple duct carcinoma
def: "A nipple carcinoma that is located_in the nipple duct. (DO)" [http://www.cancer.gov/dictionary?CdrID=45963 "DO"]
xref: NCI:C27234
xref: RDO:9001815
is_a: DOID:6629 ! nipple carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:7958
name: sarcomatoid penile squamous cell carcinoma
synonym: "sarcomatous carcinoma of the penis" EXACT []
xref: NCI:C6984
is_a: DOID:5518 ! penis squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:7959
name: duodenal gastrinoma
synonym: "Duodenal Gastrin-Producing Neuroendocrine Tumor" EXACT []
synonym: "duodenal G-cell gastrin producing tumor" EXACT []
synonym: "gastrinoma of duodenum" EXACT []
synonym: "malignant duodenal gastrinoma" EXACT []
xref: EFO:1000224
xref: NCI:C5731
is_a: DOID:10021 ! duodenum cancer
is_a: DOID:4434 ! small intestine neuroendocrine neoplasm
is_a: DOID:5577 ! gastrinoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:7960
name: malignant spiradenoma
synonym: "malignant eccrine spiradenoma" EXACT []
xref: NCI:C5117
is_a: DOID:4921 ! eccrine sweat gland cancer
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:7961
name: cervical non-keratinizing squamous cell carcinoma
def: "A cervical squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3702072/ "DO"]
xref: NCI:C40188
is_a: DOID:3744 ! cervical squamous cell carcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:7962
name: tamoxifen-related endometrial lesion
def: "An endometrial disease that is caused by tamoxifen exposure. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC494940/ "DO"]
xref: NCI:C40159
is_a: DOID:1005 ! endometrial disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:7967
name: lipid-cell variant infiltrating bladder urothelial carcinoma
xref: NCI:C39828
is_a: DOID:6477 ! invasive bladder transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:7968
name: plasmacytoid variant infiltrating bladder urothelial carcinoma
xref: NCI:C39823
is_a: DOID:6477 ! invasive bladder transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:7969
name: nested variant infiltrating bladder urothelial carcinoma
xref: NCI:C39819
is_a: DOID:6477 ! invasive bladder transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:7971
name: microcystic variant infiltrating bladder urothelial carcinoma
xref: NCI:C39820
is_a: DOID:6477 ! invasive bladder transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:7972
name: lymphoma-like variant infiltrating bladder urothelial carcinoma
xref: NCI:C39822
is_a: DOID:6477 ! invasive bladder transitional cell carcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:7983
name: breast malignant eccrine spiradenoma
def: "A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601958/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10770427 "DO"]
synonym: "malignant Eccrine Spiradenoma of the breast" EXACT [NCI2004_11_17:C5180]
xref: NCI:C5180
xref: RDO:9001816
is_a: DOID:1612 ! breast cancer
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:7984
name: sclerosing breast papilloma
def: "A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct. (DO)" [http://www.archivesofpathology.org/doi/full/10.5858/arpa.2015-0525-RA?code=coap-site#_i51 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25650849 "DO"]
xref: NCI:C27944
is_a: DOID:1626 ! breast duct papilloma

[Term]
id: DOID:7986
name: cerebral falx meningioma
synonym: "falcine meningioma" EXACT []
xref: NCI:C5267
is_a: DOID:4436 ! anterior cranial fossa meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:799
name: varicose veins
alt_id: MIM:192200
def: "A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. (DO)" [http://www.nlm.nih.gov/medlineplus/varicoseveins.html "DO", https://www.nhlbi.nih.gov/health/health-topics/topics/vv/ "DO"]
synonym: "Varices" EXACT []
synonym: "Varicose Vein" EXACT []
synonym: "Varix" EXACT []
synonym: "venous ectasia" EXACT []
synonym: "venous varices" EXACT []
xref: ICD10CM:I83.90
xref: MESH:D014648
xref: NCI:C35114
is_a: DOID:178 ! vascular disease
is_a: DOID:866 ! vein disease

[Term]
id: DOID:7994
name: central nervous system osteosarcoma
xref: NCI:C7002
is_a: DOID:2133 ! central nervous system sarcoma
is_a: DOID:3347 ! osteosarcoma
is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:7996
name: familial glomangioma
xref: NCI:C5350
is_a: DOID:2436 ! glomangioma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:7997
name: thyrotoxicosis
def: "A thyroid gland disease that is characterized by excess thyroid hormone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22394559 "DO"]
synonym: "thyrotoxicoses" EXACT []
xref: EFO:0009190
xref: ICD10CM:E05.9
xref: ICD9CM:242
xref: MESH:D013971
xref: NCI:C61469
is_a: DOID:7998 ! hyperthyroidism

[Term]
id: DOID:7998
name: hyperthyroidism
def: "A thyroid gland disease that involves an over production of thyroid hormone. (DO)" [https://www.niddk.nih.gov/health-information/endocrine-diseases/hyperthyroidism "DO"]
synonym: "hyperthyroid" EXACT []
synonym: "hyperthyroids" EXACT []
synonym: "overactive thyroid" EXACT []
synonym: "primary hyperthyroidism" EXACT []
xref: EFO:0009189
xref: MESH:D006980
xref: NCI:C113145
xref: NCI:C3123
xref: ORDO:99819
is_a: DOID:50 ! thyroid gland disease

[Term]
id: DOID:8000
name: frontal convexity meningioma
xref: NCI:C5292
xref: RDO:9004708
is_a: DOID:6114 ! cerebral convexity meningioma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:8002
name: supraglottis neoplasm
synonym: "neoplasm of supraglottis" EXACT []
synonym: "supraglottic tumor" EXACT []
xref: NCI:C6793
is_a: DOID:2598 ! laryngeal benign neoplasm
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:8003
name: alveoli adenoma
synonym: "adenoma of alveoli" EXACT []
synonym: "adenoma of the alveoli" EXACT []
synonym: "alveolar adenoma" EXACT []
synonym: "alveolar adenoma (morphologic abnormality)" EXACT []
xref: NCI:C4140
is_a: DOID:3906 ! bronchial benign neoplasm
is_a: DOID:5386 ! lung adenoma
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:8006
name: skin meningioma
synonym: "primary meningioma of the skin" EXACT []
xref: NCI:C5277
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:3165 ! skin benign neoplasm
is_a: DOID:3565 ! meningioma
is_a: DOID:4159 ! skin cancer
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:8007
name: Pancoast tumor
def: "A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." []
synonym: "malignant superior sulcus tumor" EXACT []
synonym: "malignant Superior Sulcus tumour" EXACT []
synonym: "Pancoast's syndrome" EXACT []
synonym: "Pancoast's tumour" EXACT []
synonym: "Pancoasts Syndrome" EXACT []
synonym: "Pancoast syndrome" EXACT []
synonym: "Pancoast tumour" EXACT []
synonym: "pulmonary sulcus tumor" EXACT []
synonym: "pulmonary sulcus tumour" EXACT []
synonym: "superior pulmonary sulcus syndrome" EXACT []
xref: EFO:1001080
xref: MESH:D010178
xref: NCI:C27710
xref: NCI:C55815
xref: NCI:C7527
is_a: DOID:1324 ! lung cancer
is_a: DOID:225 ! syndrome
is_a: DOID:9005172 ! Lung Neoplasms

[Term]
id: DOID:8009
name: penis mixed squamous cell carcinoma
xref: NCI:C39959
xref: RDO:9002249
is_a: DOID:5518 ! penis squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:801
name: hemarthrosis
def: "Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." [MESH:D006395]
synonym: "haemarthrosis of shoulder joint" NARROW []
synonym: "haemarthrosis of the ankle and foot" NARROW []
synonym: "haemarthrosis of the pelvic region and thigh" NARROW []
synonym: "Hemarthroses" EXACT []
synonym: "hemarthrosis involving ankle and foot" NARROW []
synonym: "hemarthrosis involving forearm" NARROW []
synonym: "hemarthrosis involving hand" NARROW []
synonym: "hemarthrosis involving lower leg" NARROW []
synonym: "hemarthrosis involving pelvic region and thigh" NARROW []
synonym: "hemarthrosis involving shoulder region" NARROW []
synonym: "hemarthrosis involving upper arm" NARROW []
synonym: "hemarthrosis of ankle and/or foot" NARROW []
synonym: "hemarthrosis of forearm" NARROW []
synonym: "hemarthrosis of hand" NARROW []
synonym: "hemarthrosis of lower leg" NARROW []
synonym: "hemarthrosis of shoulder" NARROW []
synonym: "hemarthrosis of shoulder region" NARROW []
synonym: "hemarthrosis of the ankle and/or foot" NARROW []
synonym: "hemarthrosis of the ankle and foot" NARROW []
synonym: "hemarthrosis of the forearm" NARROW []
synonym: "hemarthrosis of the hand" NARROW []
synonym: "hemarthrosis of the lower leg" NARROW []
synonym: "hemarthrosis of the pelvic region and thigh" NARROW []
synonym: "hemarthrosis of the shoulder region" NARROW []
synonym: "hemarthrosis of the upper arm" NARROW []
synonym: "hemarthrosis of upper arm" NARROW []
xref: EFO:1001344
xref: ICD10CM:M25.0
xref: ICD9CM:719.1
xref: MESH:D006395
is_a: DOID:381 ! arthropathy
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:8012
name: benign pericardial teratoma
synonym: "mature teratoma of pericardium" EXACT []
xref: NCI:C6744
xref: RDO:9005075
is_a: DOID:0050829 ! pericardium disease
is_a: DOID:0060091 ! cardiovascular organ benign neoplasm
is_a: DOID:5566 ! mature teratoma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:8013
name: penis papillary carcinoma
def: "A papillary carcinoma that is located_in the penis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22367299 "DO"]
synonym: "squamous carcinoma of penis, papillary type" EXACT []
xref: NCI:C6983
is_a: DOID:3113 ! papillary carcinoma
is_a: DOID:5518 ! penis squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:8020
name: glomangiomyoma
xref: ICDO:8713/0
xref: NCI:C4223
is_a: DOID:5238 ! benign perivascular tumor
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:8022
name: liver fibrosarcoma
def: "A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver. (DO)" [http://en.wikipedia.org/wiki/Fibrosarcoma "DO"]
xref: NCI:C5832
is_a: DOID:270 ! liver sarcoma
is_a: DOID:3355 ! fibrosarcoma
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:8023
name: myxoid liposarcoma of the ovary
def: "A myxoid liposarcoma that is located_in the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20407326 "DO"]
synonym: "Myxoid Liposarcoma of Ovary" EXACT [NCI2004_11_17:C5235]
xref: NCI:C5235
xref: RDO:9004291
is_a: DOID:5363 ! myxoid liposarcoma
is_a: DOID:5697 ! liposarcoma of the ovary
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:8025
name: gastric signet ring cell adenocarcinoma
synonym: "Signet Ring cell adenocarcinoma of the stomach" EXACT []
xref: EFO:1000524
xref: NCI:C5250
xref: RDO:9002474
is_a: DOID:3493 ! signet ring cell adenocarcinoma
is_a: DOID:6217 ! gastric diffuse adenocarcinoma
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:8029
name: sporadic breast cancer
def: "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/sporadic-cancer "DO"]
xref: NCI:C7566
is_a: DOID:3459 ! breast carcinoma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:8030
name: periocular meningioma
def: "A meningioma that affects the periocular region. (NCI)" []
xref: MONDO:0004439
xref: NCI:C6777
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:8031
name: pineal region meningioma
synonym: "pineal meningioma" EXACT []
xref: NCI:C6756
is_a: DOID:3565 ! meningioma
is_a: DOID:5032 ! pineal gland cancer
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:8036
name: childhood ovarian embryonal carcinoma
def: "An ovarian embryonal carcinoma that occurs in childhood. (DO)" [http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma "DO"]
synonym: "childhood embryonal carcinoma of the ovary" EXACT []
synonym: "pediatric embryonal carcinoma of ovary" EXACT []
xref: NCI:C6546
xref: RDO:9004158
is_a: DOID:5681 ! ovarian embryonal carcinoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:8042
name: testis polyembryoma
synonym: "Polyembryoma of testis" EXACT [NCI2004_11_17:C40962]
xref: NCI:C40962
is_a: DOID:5556 ! testicular malignant germ cell cancer

[Term]
id: DOID:8043
name: chest wall parachordoma
def: "A parachordoma arising from the chest wall. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24135242/ "DO"]
synonym: "parachordoma of the chest wall" EXACT []
xref: NCI:C6720
is_a: DOID:2647 ! parachordoma
is_a: DOID:6758 ! chest wall lymphoma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:8050
name: bladder tubulo-cystic clear cell adenocarcinoma
xref: NCI:C39847
is_a: DOID:5306 ! bladder clear cell adenocarcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:8051
name: bladder papillary clear cell adenocarcinoma
xref: NCI:C39848
is_a: DOID:3112 ! papillary adenocarcinoma
is_a: DOID:5306 ! bladder clear cell adenocarcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:8057
name: olfactory groove meningioma
synonym: "meningioma of the olfactory groove" EXACT []
xref: NCI:C6771
is_a: DOID:4436 ! anterior cranial fossa meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:8058
name: pituitary stalk meningioma
synonym: "meningioma of the pituitary stalk" EXACT []
xref: NCI:C5311
is_a: DOID:3565 ! meningioma
is_a: DOID:3643 ! sella turcica neoplasm
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:8060
name: frontal sinus inverted papilloma
synonym: "inverted papilloma of the frontal sinus" EXACT []
xref: NCI:C6842
is_a: DOID:1361 ! frontal sinus benign neoplasm
is_a: DOID:3179 ! inverted papilloma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:8068
name: intraductal breast myoepitheliosis
def: "A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1709559 "DO"]
xref: NCI:C40387
is_a: DOID:7521 ! breast myoepitheliosis
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:807
name: carotid artery occlusion
synonym: "Occlusion and stenosis of carotid artery" EXACT []
xref: ICD9CM:433.10
xref: RDO:9002143
is_a: DOID:3407 ! carotid artery disease
is_a: DOID:5976 ! occlusion precerebral artery
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:8072
name: sarcomatous intrahepatic cholangiocarcinoma
xref: NCI:C41620
xref: RDO:9002878
is_a: DOID:4928 ! intrahepatic cholangiocarcinoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:8078
name: childhood central nervous system germinoma
xref: NCI:C27406
is_a: DOID:4438 ! central nervous system germinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:8081
name: myxomatous pattern testicular yolk sac tumor
xref: NCI:C39929
is_a: DOID:5344 ! testicular yolk sac tumor

[Term]
id: DOID:8082
name: cellular congenital mesoblastic nephroma
xref: NCI:C39815
is_a: DOID:4773 ! congenital mesoblastic nephroma

[Term]
id: DOID:8083
name: classic congenital mesoblastic nephroma
xref: NCI:C39814
is_a: DOID:4773 ! congenital mesoblastic nephroma

[Term]
id: DOID:809
name: cocaine abuse
def: "A substance abuse that involves the recurring use of cocaine despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Cocaine_Abuse "DO"]
synonym: "cocaine use disorder" EXACT []
xref: ICD10CM:F14.1
xref: ICD9CM:305.6
is_a: DOID:302 ! substance abuse
is_a: DOID:9005632 ! Cocaine-Related Disorders
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:8093
name: maxillary sinus Schneiderian papilloma
synonym: "Schneiderian papilloma of the maxillary sinus" EXACT []
xref: NCI:C6839
is_a: DOID:1358 ! maxillary sinus benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:8096
name: bladder mixed adenocarcinoma
xref: NCI:C39839
is_a: DOID:3711 ! bladder adenocarcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:8097
name: bladder hepatoid adenocarcinoma
xref: NCI:C39838
is_a: DOID:0060534 ! hepatoid adenocarcinoma
is_a: DOID:3711 ! bladder adenocarcinoma
created_by: rgd
creation_date: 2017-09-12T00:00:00Z

[Term]
id: DOID:8102
name: fetal adenoma
synonym: "Microfollicular adenoma" EXACT []
xref: NCI:C4160
is_a: DOID:6204 ! follicular adenoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:8104
name: vaginal tubulovillous adenoma
alt_id: DOID:6809
def: "A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23202776 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25672089 "DO"]
synonym: "vaginal tubular adenoma" EXACT []
xref: NCI:C40258
is_a: DOID:5402 ! vaginal adenoma
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:8105
name: extrahepatic bile duct cystadenoma
def: "A bile duct cystadenoma located_in an extrahepatic bile duct. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25830005/ "DO"]
synonym: "cystadenoma of the extrahepatic bile duct" EXACT []
xref: NCI:C5851
is_a: DOID:5384 ! bile duct cystadenoma
is_a: DOID:5438 ! extrahepatic bile duct adenoma
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:8106
name: cellular phase chronic idiopathic myelofibrosis
xref: NCI:C41237
is_a: DOID:4971 ! myelofibrosis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:8108
name: fibroepithelial polyp of urethra
synonym: "urethral Fibroepithelial polyp" EXACT [NCI2004_11_17:C6170]
xref: EFO:1000700
xref: NCI:C6170
xref: RDO:9003692
is_a: DOID:6873 ! skin tag
is_a: DOID:732 ! urethral disease
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:8109
name: nephrogenic adenoma of the urethra
synonym: "nephrogenic adenoma of urethra" EXACT []
xref: NCI:C7416
is_a: DOID:730 ! urethral benign neoplasm
is_a: DOID:7334 ! nephrogenic adenoma
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:811
name: lipodystrophy
def: "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25690482 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25833179 "DO"]
synonym: "lipodystrophies" EXACT []
xref: EFO:1000727
xref: ICD9CM:272.6
xref: MESH:D008060
xref: NCI:C97093
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9002435 ! Metabolic Skin Diseases

[Term]
id: DOID:8110
name: periampullary adenocarcinoma
def: "Periampullary adenocarcinoma is a cancer that forms near the ampulla of Vater." []
xref: NCI:C27322
xref: RDO:9000002
is_a: DOID:3502 ! ampulla of Vater adenocarcinoma
created_by: slaulederkind
creation_date: 2010-03-19T00:00:00Z

[Term]
id: DOID:8117
name: neuronitis
def: "A central nervous system disease that is characterized by neuron inflammation. (DO)" [https://en.wikipedia.org/wiki/Neuroinflammation "DO"]
xref: NCI:C34847
is_a: DOID:331 ! central nervous system disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:8118
name: mature gastric teratoma
def: "A mature teratoma that has_material_basis_in gastric tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22953284 "DO"]
synonym: "mature teratoma of stomach" EXACT []
xref: NCI:C5260
is_a: DOID:5561 ! gastric teratoma
is_a: DOID:5566 ! mature teratoma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:8119
name: anal canal Paget's disease
synonym: "anal canal Paget disease" EXACT []
synonym: "Paget's disease of anal canal" EXACT []
synonym: "Paget's disease of the anal canal" EXACT []
xref: NCI:C7477
is_a: DOID:3450 ! cutaneous Paget's disease
is_a: DOID:3692 ! anal canal adenocarcinoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:8122
name: pseudovascular skin squamous cell carcinoma
xref: NCI:C27542
is_a: DOID:3151 ! skin squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:8125
name: osteochondrosis
def: "An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. (DO)" [http://medical-dictionary.thefreedictionary.com/osteochondrosis "DO"]
synonym: "apophysitis" EXACT []
synonym: "epiphyseal necrosis" EXACT []
synonym: "epiphysitis" EXACT []
synonym: "Juvenile Osteochondrosis" EXACT []
synonym: "Koehler's Disease" EXACT []
synonym: "Koehler disease" EXACT []
synonym: "Koehlers Disease" EXACT []
synonym: "navicular osteochondroses" EXACT []
synonym: "Navicular Osteochondrosis" EXACT []
synonym: "osteochondritis juvenilis" EXACT []
synonym: "osteochondroses" EXACT []
xref: EFO:0008575
xref: EFO:0008577
xref: ICD10CM:M92
xref: ICD10CM:M93.9
xref: ICD9CM:732.6
xref: MESH:D055034
xref: NCI:C34879
is_a: DOID:0080001 ! bone disease
is_a: DOID:0080008 ! ischemic bone disease

[Term]
id: DOID:813
name: septic arthritis
def: "An arthritis that involves infection by a pathogen located_in joint. (DO)" [http://en.wikipedia.org/wiki/Septic_arthritis "DO", http://www.hmc.psu.edu/healthinfo/s/septicarthritis.htm "DO", http://www.mayoclinic.com/health/bone-and-joint-infections/DS00545 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000430.htm "DO"]
synonym: "Bacterial Arthritides" EXACT []
synonym: "Bacterial Arthritis" EXACT []
synonym: "infectious arthritis" EXACT []
synonym: "Suppurative Arthritis" EXACT []
synonym: "viral arthritis" EXACT []
xref: EFO:1001351
xref: GARD:6781
xref: ICD10CM:M00
xref: ICD9CM:711.90
xref: ICD9CM:711.91
xref: ICD9CM:711.92
xref: ICD9CM:711.93
xref: ICD9CM:711.94
xref: ICD9CM:711.95
xref: ICD9CM:711.96
xref: ICD9CM:711.97
xref: MESH:D001170
xref: NCI:C26700
is_a: DOID:848 ! arthritis

[Term]
id: DOID:8130
name: breast columnar cell mucinous carcinoma
alt_id: DOID:5996
def: "A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid. (DO)" [http://www.pathologyoutlines.com/topic/breastmalignantmucinouscystadenocarcinoma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/29658333 "DO"]
synonym: "blunt duct adenosis of breast" EXACT []
synonym: "Columnar Cell Change of the Breast" EXACT []
xref: NCI:C40355
is_a: DOID:3610 ! breast mucinous carcinoma
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:8133
name: epiglottis cancer
synonym: "epiglottic cancer" EXACT []
synonym: "malignant neoplasm of epiglottis" EXACT []
synonym: "malignant tumor of epiglottis" EXACT []
xref: ICD10CM:C10.1
xref: ICD9CM:146.4
xref: NCI:C35697
xref: NCI:C4836
is_a: DOID:13476 ! supraglottis cancer
created_by: rgd
creation_date: 2017-09-22T00:00:00Z

[Term]
id: DOID:8135
name: gallbladder lymphoma
synonym: "lymphoma of the gallbladder" EXACT []
xref: NCI:C5734
xref: RDO:9003185
is_a: DOID:0060058 ! lymphoma
is_a: DOID:3121 ! gallbladder cancer
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:8137
name: thymus clear cell carcinoma
def: "Clear cell carcinoma of the Thymus" []
synonym: "Clear cell carcinoma of the Thymus" EXACT [NCI2004_11_17:C6462]
xref: NCI:C6462
is_a: DOID:3284 ! thymic carcinoma
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:8138
name: thymus sarcomatoid carcinoma
synonym: "thymic carcinosarcoma" EXACT []
xref: EFO:1000577
xref: NCI:C6463
is_a: DOID:4015 ! sarcomatoid carcinoma
is_a: DOID:5530 ! thymus squamous cell carcinoma
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:8140
name: adrenal gland ganglioneuroblastoma
xref: NCI:C7646
is_a: DOID:4163 ! ganglioneuroblastoma
is_a: DOID:5718 ! adrenal neuroblastoma
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:8144
name: pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma
synonym: "CLL/SLL with Unmutated IGVH" EXACT []
xref: NCI:C37204
is_a: DOID:6354 ! chronic lymphocytic leukemia/small lymphocytic lymphoma
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:8149
name: malignant childhood germ cell neoplasm
synonym: "malignant pediatric germ cell tumor" EXACT []
xref: NCI:C6541
is_a: DOID:6053 ! childhood germ cell cancer
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:8150
name: pancreatic invasive intraductal papillary-mucinous carcinoma
xref: NCI:C5726
is_a: DOID:7574 ! pancreatic intraductal papillary-colloid carcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:8151
name: appendiceal L-cell glucagon-like peptide producing tumor
synonym: "appendiceal L-cell glucagon-like peptide producing tumour" EXACT []
synonym: "malignant appendiceal glucagonoma" EXACT []
synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumor" EXACT []
synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumour" EXACT []
xref: NCI:C27445
is_a: DOID:11239 ! appendix cancer
created_by: rgd
creation_date: 2017-09-25T00:00:00Z

[Term]
id: DOID:8153
name: fibroosseous pseudotumor of digits
synonym: "Fibroosseous Digital Pseudotumor" EXACT []
xref: NCI:C6573
is_a: DOID:0060094 ! bone benign neoplasm
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:8158
name: complement component 5 deficiency
alt_id: MIM:609536
def: "A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system. (DO)" [http://omim.org/entry/609536 "DO", https://ghr.nlm.nih.gov/gene/C5 "DO"]
synonym: "C5D" EXACT []
synonym: "C5 deficiency" EXACT []
synonym: "C5-RELATED CONDITION" BROAD []
synonym: "dysfunction of the fifth component of complement (C5)" EXACT []
synonym: "Leiner disease" EXACT []
xref: MESH:C537005
xref: NCI:C9469
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:8161
name: oncocytic carcinoma of the thyroid
def: "A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4946 "DO"]
synonym: "follicular thyroid cancer, Hurthle cell type" EXACT []
synonym: "Hurthle cell carcinoma of the thyroid" EXACT []
synonym: "Hurthle cell thyroid neoplasia" EXACT []
synonym: "Oncocytic (Hurthle-cell) carcinoma" EXACT []
synonym: "thyroid gland Hurthle cell carcinoma" EXACT []
synonym: "thyroid gland oncocytic carcinoma" EXACT []
synonym: "thyroid Hurthle cell carcinoma" EXACT []
xref: EFO:1000592
xref: MESH:C536913
xref: MIM:607464
xref: MONDO:0006465
xref: NCI:C4946
is_a: DOID:3962 ! follicular thyroid carcinoma
is_a: DOID:5389 ! oxyphilic adenoma

[Term]
id: DOID:8162
name: thyroid Hurthle cell adenoma
synonym: "benign oncocytoma of the thyroid" EXACT []
xref: NCI:C6042
is_a: DOID:6204 ! follicular adenoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:8167
name: gallbladder melanoma
synonym: "malignant melanoma of gallbladder" EXACT []
xref: NCI:C5735
xref: RDO:9001863
is_a: DOID:1909 ! melanoma
is_a: DOID:3121 ! gallbladder cancer
created_by: rgd
creation_date: 2017-09-05T00:00:00Z

[Term]
id: DOID:817
name: interstitial myocarditis
xref: NCI:C35786
is_a: DOID:820 ! myocarditis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:8170
name: fibroepithelial polyp of the anus
synonym: "Fibroepithelial polyp of anus" EXACT [NCI2004_11_17:C5604]
xref: EFO:1000699
xref: NCI:C5604
xref: RDO:9003691
is_a: DOID:3128 ! anus disease
is_a: DOID:6873 ! skin tag
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:8177
name: endocervical type cervical adenomyoma
def: "A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle. (DO)" [http://www.pathologyoutlines.com/topic/cervixadenomyoma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/23805464 "DO"]
xref: NCI:C40232
is_a: DOID:4995 ! cervical adenomyoma

[Term]
id: DOID:8178
name: endometrial type cervical adenomyoma
def: "A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8685218 "DO"]
xref: NCI:C40233
is_a: DOID:4995 ! cervical adenomyoma

[Term]
id: DOID:8179
name: cervical atypical polypoid adenomyoma
def: "A cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23805464 "DO"]
xref: NCI:C40234
is_a: DOID:4995 ! cervical adenomyoma

[Term]
id: DOID:8186
name: fallopian tube gestational choriocarcinoma
def: "A gestational choriocarcinoma that is located_in the fallopian tube. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24219747 "DO"]
synonym: "Gestational Choriocarcinoma of the fallopian tube" EXACT [NCI2004_11_17:C6278]
xref: NCI:C6278
xref: RDO:9005088
is_a: DOID:1963 ! fallopian tube carcinoma
is_a: DOID:2025 ! gestational choriocarcinoma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:8187
name: gestational uterine corpus choriocarcinoma
def: "A gestational choriocarcinoma that is located_in the uterine corpus. (DO)" [https://radiopaedia.org/articles/gestational-choriocarcinoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/16114202 "DO"]
is_a: DOID:2025 ! gestational choriocarcinoma
is_a: DOID:8188 ! uterine corpus choriocarcinoma
created_by: rgd
creation_date: 2017-11-14T00:00:00Z

[Term]
id: DOID:8188
name: uterine corpus choriocarcinoma
def: "A choriocarcinoma that is located_in the uterine corpus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16720931 "DO"]
xref: NCI:C27246
is_a: DOID:3594 ! choriocarcinoma
is_a: DOID:9460 ! uterine corpus cancer
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:819
name: mediastinitis
def: "A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities. (DO)" [http://www.clinicalradiologyonline.net/article/S0009-9260(04)00002-9/fulltext "DO"]
synonym: "mediastinitides" EXACT []
synonym: "mediastinum inflammation" EXACT []
synonym: "mediastinum inflammations" EXACT []
xref: ICD10CM:J98.51
xref: ICD9CM:519.2
xref: MESH:D008480
xref: NCI:C26827
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9007003 ! Mediastinal Diseases

[Term]
id: DOID:8193
name: papillary pattern testicular yolk sac tumor
xref: NCI:C39928
is_a: DOID:5344 ! testicular yolk sac tumor

[Term]
id: DOID:8195
name: hepatoid pattern testicular yolk sac tumor
xref: NCI:C39931
is_a: DOID:5344 ! testicular yolk sac tumor

[Term]
id: DOID:82
name: myotonic cataract
def: "A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy. (DO)" [https://www.nature.com/articles/s41433-018-0161-9 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25037086 "DO"]
xref: ICD9CM:366.43
xref: NCI:C34833
xref: RDO:9002188
is_a: DOID:83 ! cataract
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:820
name: myocarditis
def: "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. (DO)" [http://en.wikipedia.org/wiki/Myocarditis "DO"]
synonym: "Carditis" EXACT []
synonym: "Myocardial Inflammation" EXACT []
synonym: "Myocarditides" EXACT []
xref: EFO:0009609
xref: GARD:7137
xref: ICD10CM:I51.4
xref: ICD9CM:429.0
xref: MESH:D009205
xref: NCI:C34831
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:3978 ! extrinsic cardiomyopathy

[Term]
id: DOID:8200
name: tertiary syphilis
def: "A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tertiary+syphilis "DO"]
synonym: "Late syphilis" EXACT []
xref: ICD10CM:A52
xref: ICD9CM:097.0
xref: MESH:C536774
xref: NCI:C128414
is_a: DOID:4166 ! syphilis

[Term]
id: DOID:8203
name: sacral spinal canal and spinal cord meningioma
def: "meningioma of the Sacral Spinal canal and Spinal Cord" []
synonym: "meningioma of the Sacral Spinal canal and Spinal Cord" EXACT [NCI2004_11_17:C5299]
xref: NCI:C5299
is_a: DOID:1140 ! spinal canal and spinal cord meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:8207
name: hilar lung carcinoma
synonym: "lung hilum carcinoma" EXACT []
xref: NCI:C7454
is_a: DOID:3905 ! lung carcinoma
is_a: DOID:7696 ! lung hilum cancer
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:8208
name: lung superior sulcus carcinoma
synonym: "superior sulcus carcinoma of lung" EXACT []
synonym: "superior sulcus carcinoma of the lung" EXACT []
xref: NCI:C7779
is_a: DOID:8007 ! Pancoast tumor

[Term]
id: DOID:8211
name: fallopian tube cystadenofibroma
def: "A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces. (DO)" [http://atlasgeneticsoncology.org/Tumors/FallopTubTumID5279.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549083 "DO"]
xref: NCI:C40114
is_a: DOID:5478 ! fallopian tube adenofibroma
is_a: DOID:5482 ! cystadenofibroma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:8216
name: parapharyngeal meningioma
synonym: "Primary Parapharyngeal Meningioma" EXACT []
xref: NCI:C5303
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:8221
name: upper clivus meningioma
synonym: "meningioma of the Upper Clivus" EXACT [NCI2004_11_17:C5290]
xref: NCI:C5290
xref: RDO:9005051
is_a: DOID:6517 ! clivus meningioma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:8223
name: penile urethral cancer
xref: NCI:C39868
is_a: DOID:736 ! male urethral cancer

[Term]
id: DOID:8224
name: central breast papilloma
def: "A breast duct papilloma that is located_in a major duct. (DO)" [https://radiopaedia.org/articles/intraductal-papilloma-of-breast "DO", https://www.ncbi.nlm.nih.gov/pubmed/21310798 "DO"]
synonym: "large duct breast papilloma" EXACT [NCI2004_11_17:C36087]
synonym: "solitary intraductal breast papilloma" EXACT []
xref: NCI:C36087
is_a: DOID:1626 ! breast duct papilloma

[Term]
id: DOID:8225
name: microscopic breast papilloma
xref: NCI:C36088
is_a: DOID:1626 ! breast duct papilloma

[Term]
id: DOID:8227
name: atypical breast papilloma
def: "A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20407326 "DO"]
xref: NCI:C36089
is_a: DOID:1626 ! breast duct papilloma

[Term]
id: DOID:823
name: periapical periodontitis
def: "Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS." [MESH:D010485]
synonym: "Acute Nonsuppurative Periodontitides" EXACT []
synonym: "Acute Nonsuppurative Periodontitis" EXACT []
synonym: "Apical Periodontitides" EXACT []
synonym: "Apical Periodontitis" EXACT []
synonym: "Periapical Periodontitides" EXACT []
xref: EFO:1001391
xref: ICD10CM:K04.5
xref: MESH:D010485
xref: RDO:0006315
is_a: DOID:824 ! periodontitis
is_a: DOID:9002699 ! Periapical Diseases

[Term]
id: DOID:8230
name: intrahepatic biliary papillomatosis
def: "A biliary papillomatosis located_in an intrahepatic bile duct. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26885145/ "DO"]
xref: NCI:C7125
is_a: DOID:5468 ! biliary papillomatosis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:8233
name: inflammatory liposarcoma
xref: NCI:C6508
is_a: DOID:5690 ! well-differentiated liposarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:8239
name: lower clivus meningioma
synonym: "meningioma of the lower Clivus" EXACT [NCI2004_11_17:C5288]
xref: NCI:C5288
xref: RDO:9005050
is_a: DOID:6517 ! clivus meningioma
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:824
name: periodontitis
def: "Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" [MESH:D010518]
synonym: "chronic pericementitis" EXACT []
synonym: "pericementitides" EXACT []
synonym: "pericementitis" EXACT []
synonym: "periodontitides" EXACT []
xref: EFO:0000649
xref: ICD10CM:K05.3
xref: MESH:D010518
xref: NCI:C34918
is_a: DOID:3388 ! periodontal disease

[Term]
id: DOID:8243
name: meningeal melanomatosis
def: "A central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents). (DO)" [https://neurosurgery.directory/2020/10/04/diffuse-leptomeningeal-melanocytosis/ "DO"]
synonym: "leptomeningeal melanomatosis" EXACT []
xref: ICDO:8728/3
xref: NCI:C6891
is_a: DOID:4955 ! central nervous system melanocytic neoplasm
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:8251
name: adult pleomorphic rhabdomyosarcoma
synonym: "pleomorphic rhabdomyosarcoma, adult type" EXACT []
xref: ICDO:8901/3
xref: NCI:C27369
is_a: DOID:3250 ! pleomorphic rhabdomyosarcoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:8252
name: chronic rhinitis
def: "A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. (DO)" [http://www.merck.com/mmhe/sec19/ch221/ch221g.html?qt=chronic%20rhinitis&alt=sh "DO"]
xref: ICD10CM:J31.0
xref: ICD9CM:472.0
xref: NCI:C34479
is_a: DOID:4483 ! rhinitis

[Term]
id: DOID:8255
name: vulva fibroepithelial polyp
synonym: "Vulval Fibroepithelial polyp" EXACT [NCI2004_11_17:C6857]
xref: EFO:1000777
xref: NCI:C6857
xref: RDO:9003693
is_a: DOID:2059 ! vulvar disease
is_a: DOID:6873 ! skin tag
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:8256
name: olfactory neural tumor
is_a: DOID:370 ! malignant olfactory nerve neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:8259
name: bulbomembranous urethral cancer
xref: NCI:C39869
is_a: DOID:736 ! male urethral cancer

[Term]
id: DOID:827
name: ureter tuberculosis
def: "An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28087922 "DO"]
synonym: "tuberculosis of ureter" EXACT []
xref: ICD9CM:016.2
xref: MONDO:0004517
is_a: DOID:1426 ! ureteral disease
is_a: DOID:2149 ! urogenital tuberculosis

[Term]
id: DOID:8272
name: anterior urethra cancer
def: "A female urethral cancer located_in the anterior urethra. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/anterior-urethral-cancer "DO"]
synonym: "anterior urethral malignant tumor" EXACT []
xref: MONDO:0004518
xref: NCI:C7641
is_a: DOID:738 ! female urethral cancer
created_by: rgd
creation_date: 2017-09-18T00:00:00Z

[Term]
id: DOID:8274
name: synovial angioma
synonym: "hemangioma of Synovium" EXACT [NCI2004_11_17:C6525]
xref: NCI:C6525
is_a: DOID:0060123 ! connective tissue benign neoplasm
is_a: DOID:469 ! deep angioma

[Term]
id: DOID:8275
name: intratubular embryonal carcinoma
def: "An embryonal testis carcinoma that is located within a tubule. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11900581 "DO"]
xref: NCI:C7325
xref: RDO:9003732
is_a: DOID:5680 ! embryonal testis carcinoma
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:8282
name: adult epithelioid sarcoma
xref: NCI:C7944
is_a: DOID:6193 ! epithelioid sarcoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:8283
name: peritonitis
def: "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. (DO)" [http://www.merck.com/mmpe/sec02/ch011/ch011b.html#sec02-ch011-ch011b-402 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001335.htm "DO"]
synonym: "acute generalized peritonitis" EXACT []
synonym: "primary bacterial peritonitis" EXACT []
synonym: "Primary Peritonitis" EXACT []
synonym: "Retractile mesenteritis" EXACT []
synonym: "sclerosing mesenteritis" EXACT []
synonym: "Secondary Peritonitis" EXACT []
xref: EFO:0008588
xref: ICD9CM:567.8
xref: MESH:D010538
is_a: DOID:9002654 ! Intraabdominal Infections
is_a: DOID:9006175 ! Peritoneal Diseases

[Term]
id: DOID:8288
name: clear cell squamous cell skin carcinoma
synonym: "clear cell squamous cell carcinoma of skin" EXACT []
xref: NCI:C4459
is_a: DOID:3151 ! skin squamous cell carcinoma
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:8292
name: atypical follicular adenoma
xref: ICDO:8330/1
xref: NCI:C27729
is_a: DOID:6204 ! follicular adenoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:8295
name: scabies
def: "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm "DO"]
synonym: "infestation by Sarcoptes scabiei" EXACT []
synonym: "infestation by Sarcoptes scabiei var hominis" EXACT []
synonym: "sarcoptic itch" EXACT []
synonym: "Sarcoptic Mange" EXACT []
xref: ICD10CM:B86
xref: ICD9CM:133.0
xref: MESH:D012532
xref: NCI:C34998
is_a: DOID:7894 ! mite infestation
is_a: DOID:9007630 ! Parasitic Skin Diseases

[Term]
id: DOID:83
name: cataract
def: "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. (DO)" [http://en.wikipedia.org/wiki/Cataract "DO", https://www.ncbi.nlm.nih.gov/pubmed/10414631 "DO"]
synonym: "cataracts" EXACT []
synonym: "congenital cataract" NARROW []
synonym: "CONGENITAL NUCLEAR CATARACT" NARROW []
synonym: "CORTICAL PULVERULENT CATARACT" NARROW []
synonym: "Lens Opacification" EXACT []
synonym: "lens opacities" EXACT []
synonym: "lens opacity" EXACT []
synonym: "membranous cataract" EXACT []
synonym: "membranous cataracts" EXACT []
synonym: "pseudoaphakia" EXACT []
synonym: "pseudoaphakias" EXACT []
xref: EFO:0001059
xref: ICD10CM:H26
xref: ICD9CM:366.8
xref: MESH:D002386
xref: MIM:PS116200
xref: MONDO:0005129
is_a: DOID:0050177 ! monogenic disease
is_a: DOID:110 ! lens disease

[Term]
id: DOID:8302
name: mixed endometrial stromal and smooth muscle tumor
def: "A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25755804 "DO"]
synonym: "stromomyoma" EXACT []
xref: NCI:C40178
is_a: DOID:1005 ! endometrial disease
is_a: DOID:9460 ! uterine corpus cancer
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:8303
name: congenital granular cell tumor
is_a: DOID:0080015 ! physical disorder
is_a: DOID:3350 ! mesenchymal cell neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:8304
name: lymph node palisaded myofibroblastoma
def: "A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers. (DO)" [http://www.pathologyoutlines.com/topic/softtissueintranodalpalisaded.html "DO"]
synonym: "palisaded myofibroblastoma of the lymph node" EXACT []
xref: NCI:C6584
is_a: DOID:0080617 ! lymph node benign neoplasm
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:8305
name: nonossifying fibromyxoid tumor
synonym: "Nonossifying Fibromyxoma" EXACT [NCI2004_11_17:C6583]
xref: NCI:C6583
xref: RDO:9005124
is_a: DOID:3350 ! mesenchymal cell neoplasm
created_by: rgd
creation_date: 2017-11-16T00:00:00Z

[Term]
id: DOID:8307
name: early invasive cervical adenocarcinoma
def: "A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and microscopic findings that suggest invasion. (DO)" [https://www.uptodate.com/contents/invasive-cervical-adenocarcinoma "DO"]
xref: NCI:C36096
is_a: DOID:3702 ! cervical adenocarcinoma

[Term]
id: DOID:8310
name: sclerosing adenosis of breast
def: "A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue. (DO)" [https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/adenosis-of-the-breast.html "DO"]
synonym: "Sclerosing breast Adenosis" EXACT [NCI2004_11_17:C5205]
xref: NCI:C5205
is_a: DOID:3274 ! proliferative type fibrocystic change of breast
is_a: DOID:5998 ! microglandular adenosis

[Term]
id: DOID:833
name: auditory system cancer
def: "An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. (DO)" [http://en.wikipedia.org/wiki/Ear "DO"]
xref: NCI:C3000
is_a: DOID:0060116 ! sensory system cancer
is_a: DOID:9001296 ! Ear Neoplasms
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:8331
name: perineural angioma
xref: NCI:C6526
is_a: DOID:0060090 ! central nervous system benign neoplasm
is_a: DOID:469 ! deep angioma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:8335
name: microglandular adenosis of breast
xref: NCI:C5199
is_a: DOID:5998 ! microglandular adenosis

[Term]
id: DOID:8336
name: childhood choriocarcinoma of the ovary
def: "A choriocarcinoma of the ovary that is present during childhood. (DO)" [https://www.sciencedirect.com/science/article/pii/S1875957211000349 "DO"]
synonym: "childhood ovarian choriocarcinoma" EXACT []
synonym: "hildhood choriocarcinoma of ovary" EXACT []
synonym: "pediatric choriocarcinoma of ovary" EXACT []
xref: NCI:C6549
xref: RDO:9004208
is_a: DOID:5550 ! choriocarcinoma of ovary
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:8337
name: appendicitis
alt_id: MIM:107700
def: "A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. (DO)" [http://www.merck.com/mmhe/sec09/ch132/ch132e.html#sec09-ch132-ch132e-1018 "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/appendicitis "DO"]
synonym: "acute appendicitis" EXACT []
synonym: "acute appendicitis with generalized peritonitis" EXACT []
synonym: "acute appendicitis with peritoneal abscess" EXACT []
synonym: "Perforated Appendicitis" EXACT []
synonym: "ruptured appendicitis" EXACT []
xref: EFO:0007149
xref: ICD10CM:K37
xref: ICD9CM:540-543.99
xref: MESH:D001064
xref: NCI:C35145
is_a: DOID:1518 ! cecal disease
is_a: DOID:2326 ! gastroenteritis
is_a: DOID:9002654 ! Intraabdominal Infections

[Term]
id: DOID:8338
name: villoglandular variant cervical mucinous adenocarcinoma
def: "A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores. (DO)" [http://www.pathologyoutlines.com/topic/uterusvilloglandular.html "DO"]
xref: EFO:1000170
xref: NCI:C40208
is_a: DOID:3701 ! cervical mucinous adenocarcinoma

[Term]
id: DOID:8339
name: intestinal variant cervical mucinous adenocarcinoma
def: "A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780314/ "DO"]
xref: NCI:C40203
is_a: DOID:3701 ! cervical mucinous adenocarcinoma

[Term]
id: DOID:8340
name: endocervical type cervical mucinous adenocarcinoma
def: "A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22990556/ "DO"]
synonym: "Mucinous adenocarcinoma, endocervical type" EXACT []
xref: ICDO:8482/3
is_a: DOID:3701 ! cervical mucinous adenocarcinoma
created_by: rgd
creation_date: 2016-08-09T00:00:00Z

[Term]
id: DOID:8352
name: aortic malignant tumor
def: "A vascular cancer that is located_in the aorta. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14681654 "DO"]
synonym: "aortic malignant neoplasm" EXACT []
xref: NCI:C5375
is_a: DOID:175 ! vascular cancer
is_a: DOID:520 ! aortic disease

[Term]
id: DOID:8353
name: epithelioid malignant peripheral nerve sheath tumor
synonym: "epithelioid MPNST" EXACT []
synonym: "malignant epithelioid neoplasm of the peripheral nerve sheath" EXACT []
xref: EFO:1000245
xref: NCI:C6561
is_a: DOID:5940 ! malignant peripheral nerve sheath tumor
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:8354
name: complement component 3 deficiency
alt_id: MIM:613779
alt_id: OMIA:000155
def: "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections. (DO)" [https://www.omim.org/entry/613779 "DO"]
synonym: "C3D" EXACT []
synonym: "C3 deficiency" EXACT []
synonym: "C3 deficiency, autosomal recessive" EXACT []
synonym: "complement component 3 deficiency, autosomal recessive" EXACT []
xref: MESH:C565169
xref: NCI:C9468
xref: ORDO:280133
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:8358
name: pseudoglandular variant testicular seminoma
xref: NCI:C40958
is_a: DOID:5842 ! testis seminoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:8361
name: glassy cell variant cervical adenosquamous carcinoma
def: "A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm. (DO)" [http://en.wikipedia.org/wiki/Glassy_cell_carcinoma_of_the_cervix "DO", https://www.ncbi.nlm.nih.gov/pubmed/14749637 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15318016 "DO"]
xref: NCI:C40212
is_a: DOID:5636 ! cervical adenosquamous carcinoma
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:8362
name: enteric pattern testicular yolk sac tumor
xref: NCI:C39932
is_a: DOID:5344 ! testicular yolk sac tumor

[Term]
id: DOID:8368
name: chordoid meningioma
def: "A meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36692061/ "DO"]
xref: EFO:1000176
xref: NCI:C6908
is_a: DOID:3565 ! meningioma
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:8369
name: adult malignant schwannoma
synonym: "adult MPNST" EXACT []
xref: NCI:C7814
is_a: DOID:5940 ! malignant peripheral nerve sheath tumor
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:8389
name: lumbar plexus neoplasm
synonym: "tumor of lumbar plexus" EXACT []
xref: NCI:C5824
is_a: DOID:4693 ! nerve plexus neoplasm
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:8392
name: reticular pattern testicular yolk sac tumor
xref: NCI:C39923
is_a: DOID:5344 ! testicular yolk sac tumor
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:8394
name: adult type testicular granulosa cell tumor
xref: NCI:C39946
xref: RDO:9003645
is_a: DOID:4757 ! testicular sex cord-stromal neoplasm
is_a: DOID:5331 ! testicular granulosa cell tumor
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:8398
name: osteoarthritis
alt_id: MIM:140600
alt_id: MIM:165720
alt_id: MIM:607850
alt_id: MIM:610839
alt_id: MIM:612400
alt_id: MIM:612401
def: "An arthritis that has_material_basis_in worn out cartilage located_in joint. (DO)" [http://en.wikipedia.org/wiki/Osteoarthritis "DO", http://www.mayoclinic.com/health/osteoarthritis/DS00019 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000423.htm "DO"]
synonym: "degenerative arthritides" EXACT []
synonym: "Degenerative Arthritis" EXACT []
synonym: "degenerative joint disease" EXACT []
synonym: "DIPOA" EXACT []
synonym: "GOA1" EXACT []
synonym: "HAND OSTEOARTHRITIS" NARROW []
synonym: "HOA  HEBERDEN NODES" NARROW []
synonym: "hypertrophic arthritis" EXACT []
synonym: "OA" EXACT []
synonym: "OADIP" EXACT []
synonym: "OS1" RELATED []
synonym: "OS2" RELATED []
synonym: "OS3" RELATED []
synonym: "OS4" RELATED []
synonym: "OS5" RELATED []
synonym: "OS6" RELATED []
synonym: "osteoarthritides" EXACT []
synonym: "OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA" EXACT []
synonym: "OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS" EXACT []
synonym: "OSTEOARTHRITIS OF KNEE/HIP" EXACT []
synonym: "osteoarthritis susceptibility 1" RELATED []
synonym: "osteoarthritis susceptibility 2" RELATED []
synonym: "osteoarthritis susceptibility 3" RELATED []
synonym: "osteoarthritis susceptibility 4" RELATED []
synonym: "osteoarthritis susceptibility 5" RELATED []
synonym: "osteoarthritis susceptibility 6" RELATED []
synonym: "osteoarthritis, toe" NARROW []
synonym: "Osteoarthroses" EXACT []
synonym: "Osteoarthrosis" EXACT []
synonym: "osteoarthrosis and allied disorder" EXACT []
synonym: "osteoarthrosis deformans" EXACT []
xref: EFO:0002506
xref: EFO:1000788
xref: ICD9CM:715.3
xref: MESH:D010003
xref: MONDO:0005178
xref: NCI:C3293
is_a: DOID:1575 ! rheumatic disease
is_a: DOID:848 ! arthritis
is_a: DOID:9007801 ! Diseases of the Aged

[Term]
id: DOID:8399
name: trombiculiasis
def: "A mite infestation that involves rash caused by Leptotrombidium deliense. (DO)" [http://en.wikipedia.org/wiki/Trombiculosis "DO"]
synonym: "trombiculiases" EXACT []
xref: EFO:0007526
xref: MESH:D014323
is_a: DOID:7894 ! mite infestation

[Term]
id: DOID:84
name: osteochondritis dissecans
def: "An ischemic bone disease that results_in necrosis located_in epiphysis. (DO)" [http://en.wikipedia.org/wiki/Osteochondritis_dissecans "DO", http://www.mayoclinic.com/health/osteochondritis-dissecans/DS00741 "DO"]
synonym: "OCD" EXACT []
xref: GARD:12703
xref: ICD10CM:M93.2
xref: ICD9CM:732.7
xref: MESH:D010008
xref: NCI:C34877
xref: NCI:C34878
is_a: DOID:0080008 ! ischemic bone disease
is_a: DOID:9006161 ! Osteochondritis

[Term]
id: DOID:840
name: cork-handlers' disease
def: "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470051/pdf/thorax00130-0009.pdf "DO"]
synonym: "cork-handlers' disease or lung" EXACT []
synonym: "cork-handlers' lung" EXACT []
synonym: "suberosis" EXACT []
xref: ICD10CM:J67.3
xref: ICD9CM:495.3
is_a: DOID:841 ! extrinsic allergic alveolitis
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:8400
name: malignant cornea melanoma
synonym: "malignant corneal melanoma" EXACT []
synonym: "malignant melanoma of cornea" EXACT []
xref: NCI:C4553
is_a: DOID:6199 ! cornea cancer
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:8408
name: Meckel's diverticulitis
def: "A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth. (DO)" [https://en.wikipedia.org/wiki/Meckel's_diverticulum#Diverticulitis "DO", https://www.ncbi.nlm.nih.gov/pubmed/17021300 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17579156 "DO"]
synonym: "Meckel diverticulitis" EXACT []
xref: NCI:C27300
xref: RDO:9003928
is_a: DOID:7475 ! diverticulitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:8409
name: microinvasive cervical squamous cell carcinoma
def: "A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter. (DO)" [http://www.pathologyoutlines.com/topic/cervixmicroinvasivescc.html "DO"]
synonym: "early invasive cervical squamous cell carcinoma" EXACT []
xref: NCI:C36094
is_a: DOID:3744 ! cervical squamous cell carcinoma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:841
name: extrinsic allergic alveolitis
def: "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. (DO)" [http://www.merck.com/mmhe/sec04/ch051/ch051b.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000109.htm "DO"]
synonym: "extrinsic allergic alveolitides" EXACT []
synonym: "hypersensitivity pneumonitides" EXACT []
synonym: "hypersensitivity pneumonitis" EXACT []
xref: EFO:1001321
xref: GARD:12
xref: ICD10CM:J67.9
xref: ICD9CM:495
xref: MESH:D000542
xref: NCI:C34369
is_a: DOID:0060496 ! respiratory allergy
is_a: DOID:3082 ! interstitial lung disease

[Term]
id: DOID:8410
name: childhood kidney angiomyolipoma
synonym: "pediatric renal angiomyolipoma" EXACT []
xref: ICD-O:M8860/0
xref: NCI:C6565
is_a: DOID:8411 ! kidney angiomyolipoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:8411
name: kidney angiomyolipoma
alt_id: DOID:9000764
alt_id: MESH:C567682
synonym: "angiomyolipoma of kidney" EXACT []
synonym: "renal angiomyolipoma" EXACT []
synonym: "Renal TSC2 Angiomyolipomas, Modifier of" RELATED []
xref: EFO:1000312
xref: NCI:C3888
is_a: DOID:3116 ! kidney benign neoplasm
is_a: DOID:3314 ! angiomyolipoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:8415
name: carcinoma arising in nasal papillomatosis
xref: NCI:C27389
is_a: DOID:4931 ! nasal cavity carcinoma
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:8418
name: congenital fibrosarcoma
synonym: "infantile fibrosarcoma" EXACT []
xref: NCI:C4244
is_a: DOID:0080015 ! physical disorder
is_a: DOID:3520 ! childhood fibrosarcoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:8419
name: colloid adenoma
synonym: "macrofollicular adenoma" EXACT []
xref: NCI:C4161
is_a: DOID:6204 ! follicular adenoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:8420
name: malignant glandular tumor of peripheral nerve sheath
synonym: "glandular MPNST" EXACT []
xref: NCI:C6560
is_a: DOID:5940 ! malignant peripheral nerve sheath tumor
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:8426
name: follicular infundibulum tumor
synonym: "follicular infundibulum tumour" EXACT []
synonym: "neoplasm of the Follicular Infundibulum" EXACT [NCI2004_11_17:C4469]
synonym: "tumor of follicular infundibulum" EXACT [SNOMEDCT_2005_07_31:254694002]
synonym: "tumour of follicular infundibulum" EXACT []
xref: NCI:C4469
is_a: DOID:5375 ! hair follicle neoplasm
created_by: rgd
creation_date: 2017-02-03T00:00:00Z

[Term]
id: DOID:8427
name: retinal melanoma
synonym: "malignant retinal melanoma" EXACT []
xref: NCI:C8601
is_a: DOID:4645 ! retinal cancer
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:8428
name: breast apocrine carcinoma in situ
def: "A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast. (DO)" [http://surgpathcriteria.stanford.edu/breast/dcis/apocrinedcis.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/23771415 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25374127 "DO"]
synonym: "Apocrine carcinoma in situ of the breast" EXACT [NCI2004_11_17:C5140]
xref: NCI:C5140
is_a: DOID:8791 ! breast carcinoma in situ

[Term]
id: DOID:8431
name: physiological polycythemia
xref: NCI:C27311
xref: RDO:9002588
is_a: DOID:8432 ! polycythemia
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:8432
name: polycythemia
alt_id: OMIA:000809
def: "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow. (DO)" [https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera "DO", https://www.nhlbi.nih.gov/health-topics/polycythemia-vera "DO"]
synonym: "erythrocythemia" EXACT []
synonym: "erythrocytoses" EXACT []
synonym: "Erythrocytosis" EXACT []
synonym: "ERYTHROCYTOSIS, SOMATIC" NARROW []
synonym: "HEMOGLOBIN G (Pest)" RELATED []
synonym: "HEMOGLOBIN INKSTER" RELATED []
synonym: "HEMOGLOBIN J (Buda)" RELATED []
synonym: "HEMOGLOBIN PUTTELANGE" RELATED []
synonym: "HEMOGLOBIN SAN DIEGO" RELATED []
synonym: "HEMOGLOBIN SHERWOOD FOREST" RELATED []
synonym: "HEMOGLOBIN SOUTH MILWAUKEE" RELATED []
synonym: "hemoglobin TAK" RELATED []
synonym: "polycythemias" EXACT []
xref: EFO:0005804
xref: MESH:D011086
xref: NCI:C26863
is_a: DOID:4961 ! bone marrow disease
is_a: DOID:74 ! hematopoietic system disease

[Term]
id: DOID:8433
name: thyroid malformation
def: "Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM." [MESH:D050033]
synonym: "Ectopic Thyroid" EXACT []
synonym: "ectopic thyroids" EXACT []
synonym: "Thyroid Agenesis" EXACT []
synonym: "Thyroid Dysgenesis" EXACT []
synonym: "thyroid hypoplasia" EXACT []
xref: MESH:D050033
xref: NCI:C27331
is_a: DOID:50 ! thyroid gland disease
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:8437
name: intestinal obstruction
def: "Any impairment, arrest, or reversal of the normal flow of INTESTINAL CONTENTS toward the ANAL CANAL." [MESH:D007415]
synonym: "Intestinal Obstructions" EXACT []
xref: ICD10CM:K56.60
xref: ICD10CM:K56.609
xref: ICD10CM:K56.69
xref: ICD9CM:560.9
xref: MESH:D007415
xref: NCI:C9175
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:8438
name: afferent loop syndrome
def: "A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32638230/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK546609/ "DO", https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=134&contentid=157 "DO"]
synonym: "afferent limb syndrome" EXACT []
synonym: "afferent loop syndromes" EXACT []
xref: EFO:1000799
xref: MESH:D000343
is_a: DOID:8437 ! intestinal obstruction
is_a: DOID:8439 ! postgastrectomy syndrome
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:8439
name: postgastrectomy syndrome
def: "Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (DUMPING SYNDROME and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies." [MESH:D011178]
synonym: "postgastrectomy syndromes" EXACT []
synonym: "postgastric surgery syndrome" EXACT []
xref: ICD9CM:564.2
xref: MESH:D011178
is_a: DOID:1159 ! functional gastric disease
is_a: DOID:225 ! syndrome
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:8440
name: ileus
def: "A condition caused by the lack of intestinal PERISTALSIS or INTESTINAL MOTILITY without any mechanical obstruction. This interference of the flow of INTESTINAL CONTENTS often leads to INTESTINAL OBSTRUCTION. Ileus may be classified into postoperative, inflammatory, metabolic, neurogenic, and drug-induced." [MESH:D045823]
synonym: "ileus of intestine" EXACT []
xref: MESH:D045823
xref: NCI:C37979
is_a: DOID:8437 ! intestinal obstruction

[Term]
id: DOID:8442
name: paralytic ileus
xref: ICD10CM:K56.0
xref: ICD9CM:560.1
xref: NCI:C93045
is_a: DOID:8440 ! ileus
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:8443
name: brachial plexus lesion
def: "A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. (DO)" [http://en.wikipedia.org/wiki/Brachial_plexus_injury "DO", http://www.nlm.nih.gov/medlineplus/brachialplexusinjuries.html "DO"]
synonym: "brachial plexus lesions" EXACT []
xref: ICD9CM:353.0
is_a: DOID:3690 ! brachial plexus neuropathy

[Term]
id: DOID:8445
name: intestinal volvulus
alt_id: MIM:193250
def: "An intestinal obstruction characterized by abnormal rotation of the intestines. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20549505 "DO"]
synonym: "familial intestinal malrotation" EXACT []
synonym: "intestine volvulus" EXACT []
synonym: "twist of intestine, bowel, or colon" EXACT []
synonym: "Volvulus" EXACT []
xref: EFO:1000989
xref: ICD10CM:K56.2
xref: ICD9CM:560.2
xref: MESH:D045822
xref: NCI:C98963
is_a: DOID:8437 ! intestinal obstruction
is_a: DOID:9000314 ! Torsion Abnormality

[Term]
id: DOID:8446
name: intussusception
alt_id: MIM:147710
def: "A form of intestinal obstruction caused by the PROLAPSE of a part of the intestine into the adjoining intestinal lumen. There are four types: colic, involving segments of the LARGE INTESTINE; enteric, involving only the SMALL INTESTINE; ileocecal, in which the ILEOCECAL VALVE prolapses into the CECUM, drawing the ILEUM along with it; and ileocolic, in which the ileum prolapses through the ileocecal valve into the COLON." [MESH:D007443]
synonym: "Intestinal Invagination" EXACT []
synonym: "intestinal invaginations" EXACT []
synonym: "intussusception of intestine" EXACT []
synonym: "Intussusceptions" EXACT []
synonym: "Intususception" EXACT []
synonym: "intususceptions" EXACT []
synonym: "invagination of intestine or colon" EXACT []
xref: ICD10CM:K56.1
xref: ICD9CM:560.0
xref: MESH:D007443
xref: NCI:C113484
is_a: DOID:8437 ! intestinal obstruction

[Term]
id: DOID:8448
name: intestinal impaction
xref: ICD10CM:K56.4
xref: ICD10CM:K56.49
xref: ICD9CM:560.39
is_a: DOID:8437 ! intestinal obstruction
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:845
name: cyclothymic disorder
def: "A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes. (DO)" [http://en.wikipedia.org/wiki/Mood_disorder "DO"]
synonym: "affective personality disorder" EXACT []
synonym: "cycloid personality" EXACT []
synonym: "cyclothymia" EXACT []
synonym: "Cyclothymic Disorders" EXACT []
synonym: "Cyclothymic Personalities" EXACT []
synonym: "Cyclothymic Personality" EXACT []
xref: ICD10CM:F34.0
xref: ICD9CM:301.13
xref: MESH:D003527
is_a: DOID:3312 ! bipolar disorder

[Term]
id: DOID:8454
name: riboflavin deficiency
alt_id: MIM:615026
def: "A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK470460/ "DO"]
synonym: "ariboflavinosis" EXACT []
synonym: "MATERNAL RIBOFLAVIN DEFICIENCY" NARROW []
synonym: "RBFVD" EXACT []
synonym: "riboflavin deficiencies" EXACT []
synonym: "riboflavin transporter deficiency type 1" EXACT []
synonym: "RTD1" EXACT []
synonym: "vitamin B2 deficiency" EXACT []
xref: ICD10CM:E53.0
xref: ICD9CM:266.0
xref: MESH:D012257
is_a: DOID:5113 ! nutritional deficiency disease
is_a: DOID:9002785 ! Vitamin B Deficiency

[Term]
id: DOID:8455
name: pyridoxine deficiency anemia
def: "A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid). (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK470579/ "DO"]
synonym: "pyridoxine deficiency" EXACT []
synonym: "vitamin B6 deficiencies" EXACT []
synonym: "vitamin B6 deficiency" EXACT []
synonym: "vitamin B6 deficiency syndrome" EXACT []
xref: ICD10CM:E53.1
xref: ICD9CM:266.1
xref: MESH:D026681
xref: NCI:C85221
is_a: DOID:2355 ! anemia
is_a: DOID:9002785 ! Vitamin B Deficiency

[Term]
id: DOID:8456
name: choline deficiency disease
def: "A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319504/ "DO"]
synonym: "choline deficiencies" EXACT []
synonym: "choline deficiency" EXACT []
xref: MESH:D002796
is_a: DOID:9002785 ! Vitamin B Deficiency

[Term]
id: DOID:8457
name: pellagra
def: "A nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), has_symptom gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific skin changes, and has_material_basis_in deficiency of niacin, often from inadequate diet, malabsorption, or medication side effects. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16207585 "DO"]
synonym: "niacin deficiency" EXACT []
synonym: "niacin-tryptophan deficiency" EXACT []
synonym: "Pellagras" EXACT []
xref: EFO:0008570
xref: GARD:10014
xref: ICD9CM:265.2
xref: MESH:D010383
is_a: DOID:9002785 ! Vitamin B Deficiency

[Term]
id: DOID:8461
name: Aicardi syndrome
alt_id: MIM:304050
def: "A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. (DO)" [http://en.wikipedia.org/wiki/Aicardi_syndrome "DO", http://ghr.nlm.nih.gov/condition/aicardi-syndrome "DO"]
synonym: "Agenesis of Corpus Callosum with Chorioretinal Abnormality" EXACT []
synonym: "Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities" EXACT []
synonym: "AIC" EXACT []
synonym: "Aicardi's Syndrome" EXACT []
synonym: "Callosal Agenesis and Ocular Abnormalities" EXACT []
synonym: "chorioretinal anomalies with ACC" EXACT []
xref: EFO:0000247
xref: GARD:5764
xref: MESH:D058540
xref: MONDO:0010568
xref: NCI:C35256
xref: ORDO:50
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:8463
name: corneal ulcer
def: "Loss of epithelial tissue from the surface of the cornea due to progressive erosion and necrosis of the tissue; usually caused by bacterial, fungal, or viral infection." [MESH:D003320]
synonym: "Ulcerative Keratitides" EXACT []
synonym: "Ulcerative Keratitis" EXACT []
xref: ICD10CM:H16.0
xref: ICD9CM:370.0
xref: MESH:D003320
xref: NCI:C50515
is_a: DOID:4677 ! keratitis
is_a: DOID:9005175 ! Ulcer
is_a: DOID:9008201 ! Eye Infections

[Term]
id: DOID:8464
name: flat retinoschisis
xref: ICD9CM:361.11
is_a: DOID:8465 ! retinoschisis
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:8465
name: retinoschisis
def: "A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis." [MESH:D041441]
synonym: "Degenerative Retinoschises" EXACT []
synonym: "Degenerative Retinoschisis" EXACT []
synonym: "Juvenile Retinoschises" EXACT []
synonym: "Juvenile Retinoschisis" EXACT []
synonym: "Retinoschises" EXACT []
synonym: "RS" EXACT []
xref: ICD10CM:H33.10
xref: ICD9CM:361.10
xref: MESH:D041441
xref: NCI:C85046
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:8466
name: retinal degeneration
alt_id: OMIA:001297
alt_id: OMIA:001346
alt_id: OMIA:001521
alt_id: OMIA:001572
alt_id: OMIA:001984
def: "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. (DO)" [https://en.wikipedia.org/wiki/Retinal_degeneration_(rhodopsin_mutation) "DO"]
synonym: "autosomal dominant PRA" NARROW []
synonym: "degeneration of retina" EXACT []
synonym: "early retinal degeneration" NARROW []
synonym: "generalized PRA" NARROW []
synonym: "PRA" NARROW []
synonym: "PRA 1" NARROW []
synonym: "PRA 2" NARROW []
synonym: "progressive retinal atrophy" NARROW []
synonym: "retina degeneration" EXACT []
synonym: "retinal degenerations" EXACT []
xref: MESH:D012162
xref: NCI:C34979
is_a: DOID:5679 ! retinal disease
is_a: DOID:9799 ! eye degenerative disease

[Term]
id: DOID:8469
name: influenza
def: "A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. (DO)" [http://www.merck.com/mmhe/sec17/ch198/ch198d.html "DO", http://www.who.int/mediacentre/factsheets/2003/fs211/en/ "DO"]
synonym: "flu" EXACT []
synonym: "Grippe" EXACT []
synonym: "influenza with non-respiratory manifestation" EXACT []
synonym: "Influenza with other manifestations" EXACT []
xref: EFO:0007328
xref: ICD10CM:J11.1
xref: ICD9CM:487
xref: NCI:C53482
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:9001499 ! Orthomyxoviridae Infections
created_by: rgd
creation_date: 2016-08-18T00:00:00Z

[Term]
id: DOID:8472
name: localized scleroderma
def: "A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." [MESH:D012594]
synonym: "circumscribed or localised scleroderma" EXACT []
synonym: "circumscribed or localized scleroderma" EXACT []
synonym: "Circumscribed Scleroderma" EXACT []
synonym: "Frontal Linear Scleroderma en Coup de Sabre" EXACT []
synonym: "Linear Scleroderma" EXACT []
synonym: "localised morphea" EXACT []
synonym: "localised morphoea" EXACT []
synonym: "localised scleroderma" EXACT []
synonym: "localized morphea" EXACT []
synonym: "localized sclerodermas" EXACT []
synonym: "Morphea" EXACT []
synonym: "Morpheas" EXACT []
xref: EFO:1001361
xref: GARD:7058
xref: ICD10CM:L94.0
xref: ICD9CM:701.0
xref: MESH:D012594
xref: NCI:C72069
is_a: DOID:37 ! skin disease
is_a: DOID:419 ! scleroderma

[Term]
id: DOID:8476
name: Whipple disease
def: "A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." [MESH:D008061]
synonym: "Intestinal Lipodystrophy" EXACT []
synonym: "Whipple's disease" EXACT []
synonym: "Whipples disease" EXACT []
xref: EFO:0000775
xref: GARD:7889
xref: ICD10CM:K90.81
xref: ICD9CM:040.2
xref: MESH:D008061
xref: NCI:C85228
is_a: DOID:5295 ! intestinal disease
is_a: DOID:8478 ! actinomycosis
is_a: DOID:9002984 ! Malabsorption Syndromes

[Term]
id: DOID:8478
name: actinomycosis
def: "A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures. (DO)" [http://en.wikipedia.org/wiki/Actinomycosis "DO"]
synonym: "Actinomyces Infection" EXACT []
synonym: "Actinomyces Infections" EXACT []
synonym: "actinomycetoma" RELATED []
synonym: "Actinomycoses" EXACT []
synonym: "actinomycotic infection" EXACT []
synonym: "actinomycotic madura foot" EXACT []
synonym: "actinomycotic mycetema" EXACT []
synonym: "actinomycotic mycetoma of foot" EXACT []
synonym: "boil" RELATED []
synonym: "Madura foot due to Actinomadura" EXACT []
xref: EFO:0007128
xref: GARD:5728
xref: ICD10CM:A42
xref: ICD9CM:039.9
xref: MESH:D000196
xref: NCI:C34350
is_a: DOID:0050339 ! commensal bacterial infectious disease
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:9000673 ! Actinomycetales Infections

[Term]
id: DOID:848
name: arthritis
def: "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint. (DO)" [http://en.wikipedia.org/wiki/Arthritis "DO", http://www.arthritis.org/ "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001243.htm "DO", https://www.cdc.gov/arthritis/index.htm "DO"]
synonym: "Arthritides" EXACT []
synonym: "inflammatory disorder of joint" EXACT []
synonym: "Polyarthritides" EXACT []
synonym: "Polyarthritis" EXACT []
xref: EFO:0005856
xref: ICD10CM:M19.90
xref: MESH:D001168
xref: NCI:C2883
is_a: DOID:3342 ! bone inflammation disease
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:8481
name: rheumatic myocarditis
synonym: "active rheumatic fever with myocarditis" EXACT []
synonym: "acute rheumatic carditis" EXACT []
synonym: "acute rheumatic myocarditis" EXACT []
synonym: "Rheumatic degeneration of myocardium" EXACT []
synonym: "rheumatic fever with myocarditis" EXACT []
synonym: "rheumatoid myocarditis" EXACT []
xref: ICD10CM:I01.9
xref: ICD10CM:M05.3
xref: ICD9CM:391.9
xref: ICD9CM:398.0
xref: NCI:C34985
is_a: DOID:0050827 ! rheumatic heart disease
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:820 ! myocarditis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:8482
name: transient retinal arterial occlusion
xref: ICD10CM:H34.0
xref: ICD9CM:362.34
xref: NCI:C35193
is_a: DOID:8483 ! retinal artery occlusion
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:8483
name: retinal artery occlusion
def: "Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye." [MESH:D015356]
synonym: "Retinal Artery Occlusions" EXACT []
xref: EFO:1001154
xref: MESH:D015356
xref: NCI:C34978
is_a: DOID:0050828 ! artery disease
is_a: DOID:1729 ! retinal vascular occlusion
is_a: DOID:5679 ! retinal disease
is_a: DOID:9006474 ! Arterial Occlusive Diseases

[Term]
id: DOID:8484
name: maple bark strippers' lung
def: "An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2735559 "DO"]
synonym: "alveolitis due to cryptostroma corticale" EXACT []
synonym: "maple bark disease" EXACT []
synonym: "maple bark stripper's disease" EXACT []
synonym: "maple bark stripper's lung" EXACT []
xref: ICD10CM:J67.6
xref: ICD9CM:495.6
is_a: DOID:2473 ! opportunistic mycosis
is_a: DOID:850 ! lung disease
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:8485
name: mucormycosis
def: "An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000649.htm "DO"]
synonym: "disseminated mucormycosis" EXACT []
synonym: "mucormycoses" EXACT []
xref: EFO:0007380
xref: MESH:D009091
is_a: DOID:2473 ! opportunistic mycosis
is_a: DOID:9003117 ! Zygomycosis

[Term]
id: DOID:8488
name: polyhydramnios
def: "A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. (DO)" [http://en.wikipedia.org/wiki/Polyhydramnios "DO"]
synonym: "Hydramnios" EXACT []
xref: ICD10CM:O40
xref: ICD9CM:657.0
xref: MESH:D006831
xref: NCI:C92848
is_a: DOID:780 ! placenta disease
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:849
name: rheumatoid arthritis interstitial lung disease
def: "An interstitial lung disease that is characterized by the development of pleuroparenchymal disease secondary to rheumatoid arthritis, including pleural effusions, pleural fibrosis, pulmonary vascular disease, and airway complications. (DO)" [https://err.ersjournals.com/content/30/160/210011 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647595/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29119259 "DO"]
synonym: "rheumatoid lung" EXACT []
synonym: "rheumatoid lung disease" EXACT []
xref: ICD9CM:714.81
is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system
is_a: DOID:3082 ! interstitial lung disease
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:8498
name: hereditary night blindness
alt_id: OMIA:001876
synonym: "congenital night blindness" EXACT []
synonym: "Oguchi's disease" EXACT []
synonym: "Oguchi disease" EXACT []
synonym: "Stationary night blindness, Oguchi type" EXACT []
xref: ICD10CM:H53.63
xref: ICD9CM:368.61
xref: MESH:C537743
is_a: DOID:8499 ! night blindness
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:8499
name: night blindness
def: "A retinal disease that is characterized by difficulty or the inability to see in relatively low light. (DO)" [https://en.wikipedia.org/wiki/Nyctalopia "DO"]
synonym: "nyctalopia" EXACT []
synonym: "NYX-RELATED CONDITION" BROAD []
xref: ICD10CM:H53.6
xref: ICD9CM:368.6
xref: MESH:D009755
xref: MIM:310500
xref: NCI:C34850
xref: NCI:C37997
is_a: DOID:5679 ! retinal disease
is_a: DOID:9000343 ! Vision Disorders

[Term]
id: DOID:850
name: lung disease
def: "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. (DO)" [http://www.niehs.nih.gov/health/topics/conditions/lung-disease/index.cfm "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000066.htm "DO"]
synonym: "CHRONIC LUNG DISEASE" NARROW []
synonym: "LUNG DISEASE, NON-SPECIFIC" EXACT []
synonym: "lung diseases" EXACT []
synonym: "Pulmonary Disease" EXACT []
synonym: "Pulmonary Diseases" EXACT []
xref: EFO:0003818
xref: EFO:0009910
xref: EFO:1001362
xref: ICD10CM:J98.4
xref: MESH:D008171
xref: NCI:C3198
is_a: DOID:0050161 ! lower respiratory tract disease

[Term]
id: DOID:8500
name: hereditary retinal dystrophy
xref: ICD9CM:362.7
xref: NCI:C35194
is_a: DOID:8501 ! fundus dystrophy
is_a: DOID:9002525 ! Hereditary Eye Diseases
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:8501
name: fundus dystrophy
def: "A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues." [MESH:D058499]
synonym: "retinal dystrophies" EXACT []
synonym: "Retinal Dystrophy" EXACT []
xref: MESH:D058499
xref: NCI:C35625
is_a: DOID:5614 ! eye disease
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:8502
name: bullous skin disease
def: "A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. (DO)" [http://en.wikipedia.org/wiki/Dermatitis_herpetiformis "DO"]
synonym: "autoimmune bullous skin disease" NARROW []
synonym: "bullous dermatoses" EXACT []
synonym: "bullous skin diseases" EXACT []
xref: EFO:0008598
xref: EFO:1000673
is_a: DOID:2723 ! dermatitis
is_a: DOID:65 ! connective tissue disease
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:8503
name: impetigo herpetiformis
def: "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. (DO)" [http://en.wikipedia.org/wiki/Impetigo_herpetiformis "DO"]
xref: EFO:1000715
xref: ICD10CM:L40.1
xref: ICD9CM:694.3
is_a: DOID:8504 ! impetigo

[Term]
id: DOID:8504
name: impetigo
def: "A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. (DO)" [https://www.mayoclinic.org/diseases-conditions/impetigo/symptoms-causes/syc-20352352 "DO"]
synonym: "impetigo contagiosa" EXACT []
xref: EFO:1000714
xref: ICD10CM:L01.0
xref: ICD9CM:684
xref: MESH:D007169
xref: NCI:C99088
is_a: DOID:4223 ! pyoderma
is_a: DOID:9005966 ! Staphylococcal Skin Infections
is_a: DOID:9006844 ! Streptococcal Infections

[Term]
id: DOID:8505
name: dermatitis herpetiformis
def: "Rare, chronic, papulo-vesicular disease characterized by an intensely pruritic eruption consisting of various combinations of symmetrical, erythematous, papular, vesicular, or bullous lesions. The disease is strongly associated with the presence of HLA-B8 and HLA-DR3 antigens. A variety of different autoantibodies has been detected in small numbers in patients with dermatitis herpetiformis." [MESH:D003874]
synonym: "Dermatosis herpetiformis" EXACT [MTHICD9_2006:694.0]
synonym: "Duhring's Disease" EXACT []
synonym: "Duhring Disease" EXACT []
synonym: "Duhrings Disease" EXACT []
xref: EFO:1000684
xref: GARD:1917
xref: ICD10CM:L13.0
xref: ICD9CM:694.0
xref: MESH:D003874
xref: NCI:C26742
is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue
is_a: DOID:2731 ! vesiculobullous skin disease

[Term]
id: DOID:8506
name: bullous pemphigoid
def: "A pemphigoid that is characterized by large blisters. (DO)" [https://rarediseases.org/rare-diseases/bullous-pemphigoid/ "DO"]
synonym: "anti-p200 pemphigoid" NARROW []
synonym: "autoimmune bullous skin disease" EXACT []
xref: EFO:0007187
xref: EFO:0008597
xref: EFO:0008598
xref: GARD:5972
xref: ICD10CM:L12
xref: ICD10CM:L12.0
xref: ICD10CM:L12.9
xref: ICD9CM:694.5
xref: MESH:D010391
xref: NCI:C84389
is_a: DOID:0080841 ! pemphigoid

[Term]
id: DOID:8507
name: juvenile dermatitis herpetiformis
xref: EFO:1000719
xref: ICD10CM:L12.2
xref: ICD9CM:694.2
is_a: DOID:8505 ! dermatitis herpetiformis
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:8508
name: subcorneal pustular dermatosis
synonym: "Sneddon Wilkinson Disease" EXACT []
synonym: "Sneddon-Wilkinson disease or syndrome" EXACT []
synonym: "Subcorneal Pustular Dermatoses" EXACT []
xref: EFO:1000771
xref: ICD10CM:L13.1
xref: ICD9CM:694.1
is_a: DOID:8502 ! bullous skin disease
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:851
name: Bartholin's duct cyst
def: "A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12887119 "DO"]
synonym: "Bartholin's cyst" EXACT [SNOMEDCT_2005_07_31:57044006]
synonym: "Bartholin duct cyst" EXACT []
synonym: "Cyst of Bartholin's gland" EXACT [SNOMEDCT_2005_07_31:155982004]
synonym: "cyst of Bartholin's gland duct" EXACT [NCI2004_11_17:C26706]
xref: ICD10CM:N75.0
xref: ICD9CM:616.2
xref: NCI:C26706
xref: RDO:9004595
is_a: DOID:60002 ! Bartholin's gland disease
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:8512
name: puerperal pulmonary embolism
xref: ICD10CM:O88.21
xref: ICD9CM:673
is_a: DOID:9477 ! pulmonary embolism
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:8514
name: acute pulmonary heart disease
xref: ICD9CM:415
is_a: DOID:8515 ! Cor pulmonale
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:8515
name: Cor pulmonale
def: "A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. (DO)" [http://en.wikipedia.org/wiki/Cor_pulmonale "DO", http://en.wikipedia.org/wiki/Heart_disease "DO"]
synonym: "cardiopulmonary disease" EXACT []
synonym: "pulmonary heart disease" EXACT []
synonym: "pulmonary heart diseases" EXACT []
xref: ICD10CM:I27.81
xref: MESH:D011660
is_a: DOID:6000 ! congestive heart failure

[Term]
id: DOID:8516
name: pulmonary embolism and infarction
def: "NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung." [MESH:D054060]
synonym: "Pulmonary Infarction" EXACT []
synonym: "Pulmonary Infarctions" EXACT []
xref: EFO:1001408
xref: ICD9CM:415.1
xref: MESH:D054060
is_a: DOID:8514 ! acute pulmonary heart disease
is_a: DOID:9477 ! pulmonary embolism

[Term]
id: DOID:8517
name: acute cor pulmonale
xref: ICD10CM:I26.09
xref: ICD9CM:415
is_a: DOID:8514 ! acute pulmonary heart disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:8519
name: barbiturate abuse
def: "A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Barbiturate "DO"]
synonym: "barbiturate use disorder" EXACT []
xref: ICD10CM:F13.11
xref: ICD9CM:305.43
is_a: DOID:302 ! substance abuse
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:8527
name: monocytic leukemia
def: "A myeloid leukemia that is characterized by a dominance of monocytes in the marrow. (DO)" [https://en.wikipedia.org/wiki/Monocytic_leukemia "DO"]
synonym: "monocytic leukaemia" EXACT []
synonym: "Schilling's leukaemia" EXACT []
synonym: "Schilling's leukemia" EXACT [CSP2005:2004-2820]
xref: ICD10CM:C93.Z
xref: ICD9CM:206.8
xref: NCI:C21894
xref: RDO:9002322
is_a: DOID:8692 ! myeloid leukemia
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:8529
name: ulcer of lower limbs
def: "A chronic ulcer of skin where the ulcer is not a decubitus ulcer. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ulcer "DO"]
synonym: "Ulcer of ankle" EXACT []
synonym: "Ulcer of calf" EXACT []
synonym: "Ulcer of heel and midfoot" EXACT []
synonym: "Ulcer of thigh" EXACT []
xref: EFO:0007068
is_a: DOID:8549 ! chronic ulcer of skin

[Term]
id: DOID:853
name: polymyalgia rheumatica
def: "A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. (DO)" [https://medlineplus.gov/polymyalgiarheumatica.html "DO"]
synonym: "Forestier Certonciny Syndrome" EXACT []
synonym: "Peri-Extra-Articular Rheumatism" EXACT []
synonym: "Rhizomelic Pseudopolyarthritides" EXACT []
synonym: "Rhizomelic Pseudopolyarthritis" EXACT []
xref: EFO:0008518
xref: ICD10CM:M35.3
xref: ICD9CM:725
xref: MESH:D011111
xref: NCI:C85018
is_a: DOID:1575 ! rheumatic disease
is_a: DOID:423 ! myopathy
is_a: DOID:854 ! collagen disease

[Term]
id: DOID:8533
name: hypopharynx cancer
def: "A pharynx cancer that is located_in the hypopharynx. (DO)" [http://en.wikipedia.org/wiki/Hypopharynx "DO"]
synonym: "hypopharyngeal cancer" EXACT []
synonym: "hypopharyngeal cancers" EXACT []
synonym: "malignant hypopharyngeal tumor" EXACT []
synonym: "malignant neoplasm of hypopharynx" EXACT []
synonym: "malignant tumor of hypopharynx" EXACT []
synonym: "malignant tumour of hypopharynx" EXACT []
xref: EFO:0002938
xref: EFO:0007321
xref: GARD:9334
xref: ICD10CM:C13
xref: ICD10CM:C13.2
xref: ICD9CM:148
xref: ICD9CM:148.3
xref: NCI:C7190
is_a: DOID:0060119 ! pharynx cancer
is_a: DOID:184 ! bone cancer
is_a: DOID:9001607 ! Hypopharyngeal Neoplasms
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:8534
name: gastroesophageal reflux disease
alt_id: MIM:109350
def: "Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER." [MESH:D005764]
synonym: "acid reflux" EXACT []
synonym: "Esophageal Reflux" EXACT []
synonym: "gastresophageal reflux" EXACT []
synonym: "Gastric Acid Reflux" EXACT []
synonym: "Gastric Acid Reflux Disease" EXACT []
synonym: "Gastro Esophageal Reflux" EXACT []
synonym: "gastroesophageal reflux" EXACT []
synonym: "GASTROESOPHAGEAL REFLUX, PEDIATRIC" EXACT []
synonym: "gastro-oesophageal reflux" EXACT []
synonym: "GER" EXACT []
synonym: "GERD" EXACT []
synonym: "GERD - gastro-esophageal reflux disease" EXACT []
xref: EFO:0003948
xref: ICD10CM:K21
xref: ICD10CM:K21.9
xref: ICD9CM:530.81
xref: MESH:D005764
xref: NCI:C26781
is_a: DOID:9192 ! dyskinesia of esophagus

[Term]
id: DOID:8536
name: herpes zoster
def: "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. (DO)" [http://en.wikipedia.org/wiki/Herpes_zoster "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000858.htm "DO"]
synonym: "herpes zona" EXACT []
synonym: "shingles" EXACT []
synonym: "zona" EXACT []
synonym: "zoster" EXACT []
xref: EFO:0006510
xref: ICD10CM:B02
xref: ICD9CM:053
xref: MESH:D006562
xref: NCI:C71079
is_a: DOID:863 ! nervous system disease
is_a: DOID:9004668 ! Varicella Zoster infection

[Term]
id: DOID:8538
name: reticulosarcoma
synonym: "histiocytic lymphoma" EXACT []
synonym: "large-cell lymphoma" EXACT []
synonym: "large-cell lymphomas" EXACT []
synonym: "reticulosarcomas" EXACT []
synonym: "reticulum cell sarcoma" EXACT []
synonym: "reticulum-cell sarcomas" EXACT []
xref: EFO:0005287
xref: ICD9CM:200.0
xref: MIM:267730
xref: NCI:C134780
xref: NCI:C27824
is_a: DOID:0060060 ! non-Hodgkin lymphoma
is_a: DOID:0060073 ! lymphatic system cancer
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:854
name: collagen disease
def: "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen. (DO)" [https://en.wikipedia.org/wiki/Connective_tissue_disease "DO"]
synonym: "collagen diseases" EXACT []
synonym: "collagen disorder" EXACT []
xref: MESH:D003095
xref: NCI:C27204
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:8541
name: Sezary's disease
def: "A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." [MESH:D012751]
synonym: "Sezary's Lymphoma" EXACT []
synonym: "Sezary disease" EXACT []
synonym: "Sezary Erythroderma" EXACT []
synonym: "Sezary Lymphoma" EXACT []
synonym: "Sezarys Lymphoma" EXACT []
synonym: "Sezary syndrome" EXACT []
synonym: "SEZARY SYNDROME, SOMATIC" NARROW []
xref: EFO:1000785
xref: GARD:7629
xref: ICD10CM:C84.1
xref: ICD9CM:202.2
xref: MESH:D012751
xref: NCI:C3366
is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma
is_a: DOID:0060704 ! lymphoproliferative syndrome

[Term]
id: DOID:8543
name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance
synonym: "Hodgkin's disease, lymphocyte predominance" EXACT [SNOMEDCT_2005_07_31:128799007]
synonym: "Hodgkin lymphoma, lymphocyte-rich" EXACT []
synonym: "Hodgkin lymphoma, lymphocytic-histiocytic predominance" EXACT []
synonym: "Lymphocyte Rich Hodgkin's disease" EXACT []
xref: ICD10CM:C81.4
xref: ICD9CM:201.4
xref: NCI:C6913
xref: RDO:9004173
is_a: DOID:8567 ! Hodgkin's lymphoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:8544
name: chronic fatigue syndrome
def: "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. (DO)" [http://en.wikipedia.org/wiki/Chronic_fatigue_syndrome "DO"]
synonym: "CFS" EXACT []
synonym: "chronic fatigue and immune dysfunction syndrome" EXACT []
synonym: "Chronic Fatigue Disorder" EXACT []
synonym: "chronic fatigue disorders" EXACT []
synonym: "Chronic Fatigue Fibromyalgia Syndrome" EXACT []
synonym: "chronic fatigue-fibromyalgia syndromes" EXACT []
synonym: "Chronic Fatigue Syndromes" EXACT []
synonym: "Infectious Mononucleosis Like Syndrome, Chronic" EXACT []
synonym: "myalgic encephalitis" EXACT []
synonym: "Myalgic Encephalomyelitis" EXACT []
synonym: "myalgic encephalomyelitis/chronic fatigue syndrome" EXACT []
synonym: "postviral fatigue syndrome" EXACT []
synonym: "postviral fatigue syndromes" EXACT []
synonym: "royal free disease" EXACT []
xref: EFO:0004540
xref: GARD:7121
xref: ICD10CM:G93.32
xref: ICD10CM:R53.82
xref: ICD9CM:780.71
xref: MESH:D015673
xref: MONDO:0005404
xref: NCI:C3037
xref: ORDO:1983
is_a: DOID:0080000 ! muscular disease
is_a: DOID:225 ! syndrome
is_a: DOID:440 ! neuromuscular disease
is_a: DOID:640 ! encephalomyelitis
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:8545
name: malignant hyperthermia
alt_id: MESH:C535694
alt_id: MESH:C535695
alt_id: MESH:C535696
alt_id: MESH:C535697
alt_id: MESH:C535698
alt_id: MESH:C535699
alt_id: MIM:145600
alt_id: MIM:154275
alt_id: MIM:154276
alt_id: MIM:600467
alt_id: MIM:601887
alt_id: MIM:601888
alt_id: OMIA:000621
def: "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). (DO)" [http://en.wikipedia.org/wiki/Malignant_hyperthermia "DO"]
synonym: "anesthesia hyperthermia" EXACT []
synonym: "anesthesia hyperthermias" EXACT []
synonym: "anesthesia related hyperthermia" EXACT []
synonym: "anesthesia related hyperthermias" EXACT []
synonym: "EXERCISE-INDUCED MALIGNANT HYPERTHERMIA" NARROW []
synonym: "hyperthermia of anesthesia" NARROW []
synonym: "KING-DENBOROUGH SYNDROME" NARROW []
synonym: "malignant hyperpyrexia" EXACT []
synonym: "malignant hyperpyrexia due to anesthesia" EXACT []
synonym: "malignant hyperpyrexias" EXACT []
synonym: "malignant hyperpyrexia susceptibility type 2" RELATED []
synonym: "malignant hyperpyrexia susceptibility type 3" RELATED []
synonym: "malignant hyperpyrexia susceptibility type 4" RELATED []
synonym: "malignant hyperpyrexia susceptibility type 5" RELATED []
synonym: "malignant hyperpyrexia susceptibility type 6" RELATED []
synonym: "Malignant hyperthermia and exertional rhabdomyolosis" NARROW []
synonym: "malignant hyperthermia equivocal with halothane" EXACT []
synonym: "MALIGNANT HYPERTHERMIA OF ANESTHESIA" EXACT []
synonym: "malignant hyperthermias" EXACT []
synonym: "malignant hyperthermia susceptibility" RELATED []
synonym: "malignant hyperthermia, susceptibility to, 1" RELATED []
synonym: "malignant hyperthermia, susceptibility to, 2" RELATED []
synonym: "malignant hyperthermia, susceptibility to, 3" RELATED []
synonym: "malignant hyperthermia, susceptibility to, 4" RELATED []
synonym: "malignant hyperthermia, susceptibility to, 5" RELATED []
synonym: "malignant hyperthermia, susceptibility to, 6" RELATED []
synonym: "malignant hyperthermia susceptibility type 1" RELATED []
synonym: "malignant hyperthermia susceptibility type 2" RELATED []
synonym: "malignant hyperthermia susceptibility type 3" RELATED []
synonym: "malignant hyperthermia susceptibility type 4" RELATED []
synonym: "malignant hyperthermia susceptibility type 5" RELATED []
synonym: "malignant hyperthermia susceptibility type 6" RELATED []
synonym: "MH King syndrome" NARROW []
synonym: "MHS" EXACT []
synonym: "MHS1" RELATED []
synonym: "MHS2" RELATED []
synonym: "MHS3" RELATED []
synonym: "MHS4" RELATED []
synonym: "MHS5" RELATED []
synonym: "MHS6" RELATED []
xref: GARD:6964
xref: ICD10CM:T88.3
xref: ICD9CM:995.86
xref: MESH:D008305
xref: MIM:PS145600
xref: NCI:C84869
xref: ORDO:423
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:66 ! muscle tissue disease
is_a: DOID:9000790 ! Postoperative Complications
is_a: DOID:9006553 ! Hyperthermia
is_a: DOID:9007171 ! Intraoperative Complications

[Term]
id: DOID:8549
name: chronic ulcer of skin
def: "An ULCER of the skin and underlying tissues." [MESH:D012883]
synonym: "callous ulcer" EXACT []
synonym: "indolent ulcer" EXACT []
synonym: "skin ulcer" EXACT []
synonym: "skin ulcers" EXACT []
xref: EFO:0007066
xref: ICD10CM:L98.4
xref: ICD9CM:707
xref: MESH:D012883
is_a: DOID:37 ! skin disease
is_a: DOID:9005175 ! Ulcer

[Term]
id: DOID:8552
name: chronic myeloid leukemia
alt_id: MIM:608232
def: "A myeloid leukemia that is characterized by over production of white blood cells. (DO)" [http://www.cancer.gov/dictionary?CdrID=46755 "DO"]
synonym: "ABL1-RELATED CONDITION" BROAD []
synonym: "ABL1-RELATED DISORDER" BROAD []
synonym: "chronic granulocytic leukaemia" EXACT []
synonym: "chronic granulocytic leukemia" EXACT []
synonym: "chronic granulocytic leukemias" EXACT []
synonym: "chronic myelocytic leukemia" EXACT []
synonym: "chronic myelocytic leukemias" EXACT []
synonym: "chronic myelogenous leukaemia" EXACT []
synonym: "chronic myelogenous leukemia" EXACT []
synonym: "chronic myelogenous leukemia, BCR-ABL positive" EXACT []
synonym: "chronic myelogenous leukemias" EXACT []
synonym: "chronic myeloid leukaemia" EXACT []
synonym: "CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB" NARROW []
synonym: "Chronic Myeloid Leukemias" EXACT []
synonym: "CML" EXACT []
synonym: "CML - chronic myelogenous leukemia" EXACT []
synonym: "Ph1-positive myelogenous leukemia" EXACT []
synonym: "Ph1-positive myelogenous leukemias" EXACT []
synonym: "PH1-positive myeloid leukemia" EXACT []
synonym: "PH1-positive myeloid leukemias" EXACT []
synonym: "Philadelphia chromosome-positive leukemia, resistant to imatinib" NARROW []
synonym: "Philadelphia-positive myeloid leukemia" EXACT []
xref: EFO:0000339
xref: EFO:0000340
xref: GARD:6105
xref: ICD9CM:205.1
xref: ICDO:9863/3
xref: MESH:D015464
xref: NCI:C3174
xref: ORDO:521
is_a: DOID:0070004 ! myeloid neoplasm
is_a: DOID:8692 ! myeloid leukemia

[Term]
id: DOID:8553
name: pyoderma gangrenosum
def: "An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown." [MESH:D017511]
synonym: "PASH syndrome" NARROW []
synonym: "Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome" NARROW []
xref: EFO:0006835
xref: EFO:0009009
xref: GARD:7510
xref: ICD10CM:L88
xref: ICD9CM:686.01
xref: MESH:D017511
is_a: DOID:4223 ! pyoderma
is_a: DOID:8549 ! chronic ulcer of skin
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:8556
name: vallecula cancer
synonym: "malignant tumor of vallecula" EXACT [SNOMEDCT_2005_07_31:363395000]
xref: ICD10CM:C10.0
xref: ICD9CM:146.3
is_a: DOID:8557 ! oropharynx cancer

[Term]
id: DOID:8557
name: oropharynx cancer
def: "A pharynx cancer that is located_in the oropharynx. (DO)" [http://www.cancer.gov/dictionary?CdrID=446523 "DO"]
synonym: "cancer of oropharnyx" EXACT []
synonym: "cancer of the oropharynx" EXACT []
synonym: "malignant neoplasm of oropharynx" EXACT []
synonym: "malignant oropharyngeal tumor" EXACT []
synonym: "malignant tumor of oropharynx" EXACT []
synonym: "malignant tumour of mesopharynx" EXACT []
synonym: "Oropharnyx Cancer" EXACT []
synonym: "Oropharnyx Cancers" EXACT []
synonym: "oropharyngeal cancer" EXACT []
synonym: "Oropharyngeal Cancers" EXACT []
synonym: "oropharyngeal carcinoma" EXACT []
synonym: "oropharynx cancers" EXACT []
xref: EFO:1001931
xref: ICD10CM:C10
xref: ICD10CM:C10.2
xref: ICD10CM:C10.3
xref: ICD10CM:C10.8
xref: ICD9CM:146
xref: ICD9CM:146.5
xref: ICD9CM:146.6
xref: ICD9CM:146.7
xref: NCI:C7398
is_a: DOID:0060119 ! pharynx cancer
is_a: DOID:9000906 ! Oropharyngeal Neoplasms

[Term]
id: DOID:856
name: biotinidase deficiency
def: "A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25. (DO)" [http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241 "DO"]
synonym: "biotinidase deficiencies" EXACT []
synonym: "BTD deficiencies" EXACT []
synonym: "BTD deficiency" EXACT []
synonym: "deficiency of biotinidase" EXACT []
synonym: "juvenile-onset multiple carboxylase deficiency" EXACT []
synonym: "late onset biotin responsive multiple carboxylase deficiency" EXACT []
synonym: "late onset multiple carboxylase deficiency" EXACT []
xref: GARD:894
xref: ICD10CM:D81.810
xref: MESH:C565365
xref: MESH:D028921
xref: MIM:253260
xref: MONDO:0009665
xref: NCI:C84598
xref: ORDO:79241
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:857 ! multiple carboxylase deficiency

[Term]
id: DOID:8564
name: lip cancer
synonym: "malignant neoplasm of commissure of lip" EXACT []
synonym: "malignant neoplasm of external lip, not specified as upper or lower" EXACT []
synonym: "malignant neoplasm of labial commissure of lip" EXACT []
synonym: "malignant neoplasm of lip" EXACT []
synonym: "malignant neoplasm of lip, external" EXACT []
synonym: "malignant neoplasm of lip, inner aspect" EXACT []
synonym: "malignant neoplasm of lip, vermilion border" EXACT []
synonym: "malignant neoplasm of lower lip, buccal aspect" EXACT []
synonym: "malignant neoplasm of lower lip, inner aspect" EXACT []
synonym: "malignant neoplasm of lower lip, mucosa" EXACT []
synonym: "malignant neoplasm of lower lip, oral aspect" EXACT []
synonym: "malignant neoplasm of oral aspect of lip, not specified whether upper or lower" EXACT []
synonym: "malignant neoplasm of other sites of lip" EXACT []
synonym: "malignant neoplasm of vermilion border of lip" EXACT []
synonym: "malignant tumor of commissure of lip" EXACT []
synonym: "malignant tumor of labial mucosa" EXACT []
synonym: "malignant tumor of lip" EXACT []
synonym: "malignant tumor of lower labial mucosa" EXACT []
synonym: "malignant tumor of the lip" EXACT []
synonym: "malignant tumour of labial commissure" EXACT []
synonym: "malignant tumour of lip" EXACT []
xref: EFO:1001019
xref: ICD10CM:C00
xref: ICD9CM:140
xref: ICD9CM:140.6
xref: ICD9CM:140.8
xref: NCI:C7485
is_a: DOID:8618 ! oral cavity cancer
is_a: DOID:9007400 ! Lip Neoplasms
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:8566
name: herpes simplex
def: "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. (DO)" [http://en.wikipedia.org/wiki/Herpes_simplex "DO", https://www.aad.org/public/diseases/a-z/herpes-simplex-overview "DO"]
synonym: "Herpes simplex virus 2 seropositivity" RELATED []
synonym: "Herpesvirus hominis disease" EXACT []
xref: EFO:0009339
xref: EFO:1002022
xref: ICD10CM:B00.9
xref: ICD9CM:054
xref: MESH:D006561
xref: NCI:C155871
is_a: DOID:9001063 ! Viral Skin Diseases
is_a: DOID:9002834 ! Herpesviridae Infections

[Term]
id: DOID:8567
name: Hodgkin's lymphoma
alt_id: MIM:236000
def: "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. (DO)" [https://en.wikipedia.org/wiki/Hodgkin%27s_lymphoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/22835602 "DO"]
synonym: "adult Hodgkin lymphoma" EXACT []
synonym: "CHL" EXACT []
synonym: "classical Hodgkin's lymphoma" NARROW []
synonym: "HL" EXACT []
synonym: "Hodgkin's Disease" EXACT []
synonym: "Hodgkin's sarcoma" EXACT []
synonym: "Hodgkin disease" EXACT []
synonym: "Hodgkin lymphoma" EXACT []
synonym: "Hodgkins Disease" EXACT []
synonym: "Hodgkins Lymphoma" EXACT []
synonym: "Lymphocyte Depletion Hodgkin's Lymphoma" EXACT []
synonym: "Lymphocyte Rich Classical Hodgkin's Lymphoma" EXACT []
synonym: "LYMPHOMA, HODGKIN, CLASSIC" EXACT []
synonym: "Malignant Granuloma" EXACT []
synonym: "Malignant Granulomas" EXACT []
synonym: "malignant lymphogranuloma" EXACT []
synonym: "malignant lymphogranulomas" EXACT []
synonym: "nodular lymphocyte predominant Hodgkin's lymphoma" EXACT []
synonym: "nodular sclerosing Hodgkin's lymphoma" EXACT []
synonym: "Splenic Hodgkin Lymphoma" NARROW []
synonym: "stage II subdiaphragmatic Hodgkin lymphoma" EXACT []
synonym: "stage I subdiaphragmatic Hodgkin lymphoma" EXACT []
xref: EFO:0000183
xref: EFO:0000346
xref: EFO:1000548
xref: GARD:2714
xref: ICD10CM:C81
xref: ICD9CM:201
xref: MESH:D006689
xref: NCI:C9357
xref: ORDO:98293
is_a: DOID:0060058 ! lymphoma

[Term]
id: DOID:8568
name: infectious mononucleosis
def: "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly. (DO)" [http://en.wikipedia.org/wiki/Infectious_mononucleosis "DO", http://www.cdc.gov/ncidod/diseases/ebv.htm "DO"]
synonym: "Filatov's disease" EXACT []
synonym: "gammaherpesviral mononucleosis" EXACT []
synonym: "Glandular Fever" EXACT []
synonym: "monocytic angina" EXACT []
synonym: "mononucleosis" EXACT []
synonym: "Pfeiffer's disease" EXACT []
xref: EFO:0007326
xref: ICD10CM:B27
xref: ICD9CM:075
xref: MESH:D007244
xref: NCI:C34726
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:2938 ! Epstein-Barr virus infectious disease
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:857
name: multiple carboxylase deficiency
def: "An amino acid metabolic disorder that involves failures of carboxylation enzymes. (DO)" [http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=148 "DO"]
synonym: "combined carboxylase deficiencies" EXACT []
synonym: "Combined Carboxylase Deficiency" EXACT []
synonym: "multiple carboxylase deficiencies" EXACT []
xref: GARD:3824
xref: ICD10CM:D81.81
xref: MESH:D009100
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:8573
name: lichen nitidus
def: "A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses." [MESH:D017513]
synonym: "Pinkus' disease" EXACT [MTHICD9_2006:697.1]
xref: EFO:1000725
xref: ICD10CM:L44.1
xref: ICD9CM:697.1
xref: MESH:D017513
xref: RDO:0007048
is_a: DOID:8574 ! lichen disease

[Term]
id: DOID:8574
name: lichen disease
def: "Conditions in which there is histological damage to the lower epidermis along with a grouped chronic inflammatory infiltrate in the papillary dermis disturbing the interface between the epidermis and dermis. LICHEN PLANUS is the prototype of all lichenoid eruptions. (From Rook et al., Textbook of Dermatology, 4th ed, p398)" [MESH:D017512]
synonym: "Licheniform Eruption" EXACT []
synonym: "licheniform eruptions" EXACT []
synonym: "Lichenoid Eruption" EXACT []
synonym: "lichenoid eruptions" EXACT []
xref: EFO:1000724
xref: ICD10CM:L28.0
xref: ICD9CM:697.9
xref: MESH:D017512
is_a: DOID:9008246 ! Papulosquamous Skin Diseases

[Term]
id: DOID:8577
name: ulcerative colitis
def: "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. (DO)" [http://en.wikipedia.org/wiki/Ulcerative_colitis "DO", https://meshb.nlm.nih.gov/record/ui?ui=D003093 "DO"]
synonym: "colitis gravis" EXACT []
synonym: "distal colitis" NARROW []
synonym: "Idiopathic Proctocolitis" EXACT []
synonym: "inflammatory bowel disease, ulcerative colitis type" EXACT []
synonym: "left-sided ulcerative colitis" NARROW []
xref: EFO:0000729
xref: EFO:0005623
xref: ICD10CM:K51
xref: ICD9CM:556
xref: ICD9CM:556.5
xref: MESH:D003093
xref: NCI:C2952
is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract
is_a: DOID:0060180 ! colitis

[Term]
id: DOID:8578
name: soft palate cancer
synonym: "malignant tumor of soft palate" EXACT [SNOMEDCT_2005_07_31:363388009]
synonym: "malignant tumor of the soft Palate" EXACT [NCI2004_11_17:C3529]
xref: ICD10CM:C05.1
xref: ICD9CM:145.3
xref: NCI:C3529
is_a: DOID:8618 ! oral cavity cancer
is_a: DOID:9005313 ! Palatal Neoplasms

[Term]
id: DOID:8584
name: Burkitt lymphoma
alt_id: MIM:113970
def: "A mature B-cell neoplasm of B-cells found in the germinal center. (DO)" [http://en.wikipedia.org/wiki/Burkitt%27s_lymphoma "DO", http://www.cancer.gov/dictionary?CdrID=45203 "DO"]
synonym: "African lymphoma" EXACT []
synonym: "BL" EXACT []
synonym: "Burkitt's Leukemia" EXACT []
synonym: "Burkitt's Lymphoma" EXACT []
synonym: "Burkitt's Tumor" EXACT []
synonym: "Burkitt's tumor or lymphoma" EXACT []
synonym: "Burkitt Cell Leukemia" EXACT []
synonym: "Burkitt Leukemia" EXACT []
synonym: "Burkitt lymphoma/leukaemia" EXACT []
synonym: "Burkitts Leukemia" EXACT []
synonym: "Burkitts Lymphoma" EXACT []
synonym: "Burkitts Tumor" EXACT []
synonym: "Burkitt Tumor" EXACT []
synonym: "Colon Burkitt Lymphoma" NARROW []
synonym: "Epstein-Barr virus-related Burkitts lymphoma" NARROW []
synonym: "L3 Lymphocytic Leukemia" EXACT []
synonym: "L3 lymphocytic leukemias" EXACT []
synonym: "lymphoblastic leukemia, Burkitt-type" EXACT []
synonym: "malignant lymphoma, Burkitt's type" EXACT []
synonym: "Small Intestinal Burkitt Lymphoma" NARROW []
synonym: "small non-cleaved cell lymphoma, Burkitt's type" EXACT []
xref: EFO:0000309
xref: EFO:1000182
xref: EFO:1000533
xref: EFO:1001954
xref: GARD:5973
xref: ICD10CM:C83.7
xref: ICD9CM:200.2
xref: ICDO:9687/3
xref: MESH:D002051
xref: NCI:C2912
xref: NCI:C7400
xref: ORDO:543
is_a: DOID:2938 ! Epstein-Barr virus infectious disease
is_a: DOID:706 ! mature B-cell neoplasm

[Term]
id: DOID:859
name: holocarboxylase synthetase deficiency
alt_id: MIM:253270
def: "A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. (DO)" [http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency "DO"]
synonym: "biotin-(propionyl-CoA-carboxylase) ligase deficiency" EXACT []
synonym: "Early Onset Biotin Responsive Multiple Carboxylase Deficiency" EXACT []
synonym: "Early Onset Combined Carboxylase Deficiency" EXACT []
synonym: "HLCS Deficiencies" EXACT []
synonym: "HLCS Deficiency" EXACT []
synonym: "Holocarboxylase Synthetase Deficiencies" EXACT []
synonym: "Infantile Multiple Carboxylase Deficiency" EXACT []
synonym: "Multiple Carboxylase Deficiency, Early Onset" EXACT []
synonym: "Multiple Carboxylase Deficiency, Neonatal Form" EXACT []
synonym: "multiple carboxylase deficiency - neonatal onset" EXACT []
xref: GARD:2721
xref: ICD10CM:D81.818
xref: MESH:D028922
xref: NCI:C98842
xref: NCI:C99247
is_a: DOID:857 ! multiple carboxylase deficiency

[Term]
id: DOID:8590
name: acute vascular insufficiency of intestine
synonym: "acute gastrointestinal tract vascular insuffic." EXACT [SNOMEDCT_2005_07_31:266519001]
synonym: "acute GIT vascular insuffic." EXACT [SNOMEDCT_2005_07_31:155766009]
synonym: "acute intestinal Ischemia" EXACT [NCI2004_11_17:C34356]
synonym: "acute intestinal vascular insufficiency" EXACT [SNOMEDCT_2005_07_31:196998009]
xref: ICD9CM:557.0
xref: NCI:C34356
xref: RDO:9004392
is_a: DOID:5295 ! intestinal disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:8593
name: chronic monocytic leukemia
synonym: "chronic monocytic leukemias" EXACT []
xref: ICD10CM:C93.1
xref: ICD9CM:206.1
xref: NCI:C34774
xref: RDO:9002325
is_a: DOID:8527 ! monocytic leukemia
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:8596
name: scarlet fever
def: "An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash. (DO)" [https://www.merriam-webster.com/dictionary/scarlet%20fever#medicalDictionary "DO"]
synonym: "scarlatina" EXACT []
synonym: "scarlet fevers" EXACT []
xref: EFO:0007477
xref: ICD10CM:A38
xref: ICD9CM:034
xref: ICD9CM:034.1
xref: MESH:D012541
xref: MONDO:0005952
xref: NCI:C94575
is_a: DOID:9006844 ! Streptococcal Infections
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:8601
name: upper gum cancer
synonym: "malignant tumor of upper gingiva" EXACT []
synonym: "malignant tumour of upper gum" EXACT [SNOMEDCT_2005_07_31:94114005]
xref: ICD10CM:C03.0
xref: ICD9CM:143.0
is_a: DOID:8602 ! gum cancer

[Term]
id: DOID:8602
name: gum cancer
synonym: "malignant Gingival tumor" EXACT [NCI2004_11_17:C9317]
synonym: "malignant neoplasm of gum" EXACT []
synonym: "malignant neoplasm of other sites of gum" EXACT [SNOMEDCT_2005_07_31:187650006]
synonym: "malignant tumor of gum" EXACT [SNOMEDCT_2005_07_31:363382005]
synonym: "malignant tumour of gingiva" EXACT [SNOMEDCT_2005_07_31:93819009]
xref: EFO:0005557
xref: ICD10CM:C03
xref: ICD9CM:143
xref: NCI:C9317
is_a: DOID:8618 ! oral cavity cancer

[Term]
id: DOID:8607
name: herpetic whitlow
def: "A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes. (DO)" [http://en.wikipedia.org/wiki/Herpetic_whitlow "DO"]
synonym: "Herpetic felon" EXACT [MTHICD9_2006:054.6]
xref: ICD9CM:054.6
xref: NCI:C128402
xref: RDO:9002365
is_a: DOID:8566 ! herpes simplex
created_by: rgd
creation_date: 2017-09-29T00:00:00Z

[Term]
id: DOID:8616
name: Peyronie's disease
alt_id: MIM:171000
def: "A condition characterized by hardening of the PENIS due to the formation of fibrous plaques on the dorsolateral aspect of the PENIS, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both." [MESH:D010411]
synonym: "fibrous cavernitides" EXACT []
synonym: "fibrous cavernitis" EXACT []
synonym: "induratio penis plastica" EXACT []
synonym: "Penile Fibromatosis" EXACT []
synonym: "penile induration" EXACT []
synonym: "Peyronie's fibromatosis" EXACT []
synonym: "Peyronie Disease" EXACT []
synonym: "Peyronies disease" EXACT []
synonym: "plastic induration of the penis" EXACT []
xref: EFO:1000466
xref: GARD:7379
xref: ICD10CM:N48.6
xref: ICD9CM:607.85
xref: MESH:D010411
xref: NCI:C3316
is_a: DOID:1529 ! penile disease
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:8618
name: oral cavity cancer
def: "A gastrointestinal system cancer that is located_in the oral cavity. (DO)" [http://en.wikipedia.org/wiki/Oral_cancer "DO"]
synonym: "malignant neoplasm of floor of mouth" EXACT []
xref: EFO:0005570
xref: GARD:9360
xref: ICD10CM:C04
xref: ICD10CM:C04.0
xref: ICD10CM:C04.1
xref: ICD9CM:144
xref: ICD9CM:144.0
xref: ICD9CM:144.1
xref: NCI:C9318
is_a: DOID:3119 ! gastrointestinal system cancer
is_a: DOID:9007364 ! Mouth Neoplasms

[Term]
id: DOID:8619
name: recurrent hypersomnia
def: "A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. (DO)" [http://en.wikipedia.org/wiki/Hypersomnia "DO"]
synonym: "disorders of excessive somnolence" EXACT []
synonym: "DOES (Disorders of Excessive Somnolence)" EXACT []
synonym: "Excessive Somnolence Disorder" EXACT []
synonym: "excessive somnolence disorders" EXACT []
synonym: "Hypersomnia" EXACT []
synonym: "Hypersomnias" EXACT []
synonym: "Hypersomnolence" EXACT []
synonym: "Hypersomnolence Disorder" EXACT []
synonym: "Hypersomnolence Disorders" EXACT []
synonym: "Primary Hypersomnolence Disorder" EXACT []
synonym: "Primary Hypersomnolence Disorders" EXACT []
synonym: "primary recurrent hypersomnia" EXACT []
synonym: "Recurrent Hypersomnias" EXACT []
synonym: "secondary hypersomnolence disorder" EXACT []
xref: EFO:0005246
xref: ICD10CM:G47.13
xref: ICD9CM:327.13
xref: MESH:D006970
is_a: DOID:9000166 ! Intrinsic Sleep Disorders

[Term]
id: DOID:862
name: diplegia of upper limb
synonym: "Diplegia of upper limbs" EXACT [SNOMEDCT_2005_07_31:54099005]
synonym: "Diplegia, upper" EXACT [MTHICD9_2006:344.2]
xref: ICD10CM:G83.0
xref: ICD9CM:344.2
is_a: DOID:863 ! nervous system disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:8622
name: measles
def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. (DO)" [http://en.wikipedia.org/wiki/Measles "DO"]
synonym: "morbilli" EXACT []
synonym: "rubeola" EXACT []
xref: EFO:1002025
xref: GARD:3434
xref: ICD10CM:B05
xref: ICD9CM:055
xref: MESH:D008457
xref: NCI:C96406
is_a: DOID:9003860 ! Morbillivirus Infections

[Term]
id: DOID:8628
name: Hodgkin's lymphoma, lymphocytic depletion
synonym: "Hodgkin's disease, lymphocytic depletion" EXACT [SNOMEDCT_2005_07_31:118610003]
synonym: "Hodgkin's lymphocytic depletion of unspecified site" EXACT [SNOMEDCT_2005_07_31:188584004]
synonym: "Hodgkin lymphoma, lymphocyte depletion" EXACT [SNOMEDCT_2005_07_31:112687003]
synonym: "Lymphocyte-Depleted Classical Hodgkin Lymphoma" EXACT [NCI2004_11_17:C9283]
xref: ICD10CM:C81.3
xref: ICD9CM:201.7
xref: NCI:C9283
xref: RDO:9004175
is_a: DOID:8567 ! Hodgkin's lymphoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:863
name: nervous system disease
def: "A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. (DO)" [http://en.wikipedia.org/wiki/Nervous_system "DO"]
subset: RGD_JBrowse_slim
synonym: "nervous system diseases" EXACT []
synonym: "nervous system disorder" EXACT []
synonym: "nervous system disorders" EXACT []
synonym: "neurological disorder" EXACT []
synonym: "neurological disorders" EXACT []
synonym: "neurologic disorder" EXACT []
synonym: "neurologic disorders" EXACT []
xref: EFO:0000618
xref: ICD9CM:349.9
xref: MESH:D009422
xref: NCI:C26835
is_a: DOID:7 ! disease of anatomical entity

[Term]
id: DOID:8630
name: upper lip cancer
xref: ICD10CM:C00.0
xref: ICD10CM:C00.3
xref: ICD9CM:140.0
xref: ICD9CM:140.3
is_a: DOID:8564 ! lip cancer
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:8632
name: Kaposi's sarcoma
alt_id: MIM:148000
def: "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8). (DO)" [http://cancerres.aacrjournals.org/content/58/8/1599.full.pdf "DO", http://en.wikipedia.org/wiki/Kaposi%27s_sarcoma "DO"]
synonym: "African lymphadenopathic Kaposi's sarcoma" NARROW []
synonym: "anal Kaposi's sarcoma" NARROW []
synonym: "cardiac Kaposi's sarcoma" NARROW []
synonym: "central nervous system Kaposi's sarcoma" NARROW []
synonym: "conjunctival Kaposi's sarcoma" NARROW []
synonym: "corneal Kaposi's sarcoma" NARROW []
synonym: "cutaneous Kaposi's sarcoma" NARROW []
synonym: "esophageal Kaposi's sarcoma" NARROW []
synonym: "gallbladder Kaposi's sarcoma" NARROW []
synonym: "gastric Kaposi's sarcoma" NARROW []
synonym: "iatrogenic Kaposi's sarcoma" NARROW []
synonym: "intestinal Kaposi's sarcoma" NARROW []
synonym: "Kaposi's sarcoma-associated herpesvirus (KSHV)" RELATED []
synonym: "Kaposi's sarcoma, lung" NARROW []
synonym: "Kaposi's sarcoma of anus" NARROW []
synonym: "Kaposi's sarcoma of central nervous system" NARROW []
synonym: "Kaposi's sarcoma of conjunctiva" NARROW []
synonym: "Kaposi's sarcoma of cornea" NARROW []
synonym: "Kaposi's sarcoma of esophagus" NARROW []
synonym: "Kaposi's sarcoma of gastrointestinal sites" NARROW []
synonym: "Kaposi's sarcoma of heart" NARROW []
synonym: "Kaposi's sarcoma of lung" NARROW []
synonym: "Kaposi's sarcoma of lymph nodes" NARROW []
synonym: "Kaposi's sarcoma of palate" NARROW []
synonym: "Kaposi's sarcoma of penis" NARROW []
synonym: "Kaposi's sarcoma of skin" NARROW []
synonym: "Kaposi's sarcoma of soft tissue" NARROW []
synonym: "Kaposi's sarcoma of soft tissues" NARROW []
synonym: "Kaposi's sarcoma of the CNS" NARROW []
synonym: "Kaposi's sarcoma of the gallbladder" NARROW []
synonym: "Kaposi's sarcoma of the prostate" NARROW []
synonym: "Kaposi's sarcoma, skin" NARROW []
synonym: "Kaposi sarcoma" EXACT []
synonym: "Kaposi sarcoma, susceptibility to" RELATED []
synonym: "Kaposis sarcoma" EXACT []
synonym: "lymphadenopathic Kaposi's sarcoma" NARROW []
synonym: "lymph node Kaposi's sarcoma" NARROW []
synonym: "MCD" NARROW []
synonym: "multiple idiopathic pigmented hemangiosarcoma" EXACT []
synonym: "MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA, SUSCEPTIBILITY TO MULTICENTRIC CASTLEMAN DISEASE, SUSCEPTIBILITY TO" RELATED []
synonym: "palate Kaposi's sarcoma" NARROW []
synonym: "penis Kaposi's sarcoma" NARROW []
synonym: "prostate Kaposi's sarcoma" NARROW []
synonym: "pulmonary Kaposi's sarcoma" NARROW []
synonym: "soft tissue Kaposi's sarcoma" NARROW []
xref: EFO:0000558
xref: EFO:0002613
xref: GARD:6814
xref: ICD10CM:C46
xref: ICD10CM:C46.0
xref: ICD10CM:C46.1
xref: ICD10CM:C46.2
xref: ICD10CM:C46.3
xref: ICD10CM:C46.4
xref: ICD10CM:C46.5
xref: ICD9CM:176
xref: ICD9CM:176.0
xref: ICD9CM:176.1
xref: ICD9CM:176.2
xref: ICD9CM:176.3
xref: ICD9CM:176.4
xref: ICD9CM:176.5
xref: MESH:D012514
xref: MONDO:0005055
xref: NCI:C27500
xref: NCI:C3550
xref: NCI:C3551
xref: NCI:C4578
xref: NCI:C4579
xref: NCI:C5363
xref: NCI:C5523
xref: NCI:C5529
xref: NCI:C5602
xref: NCI:C5706
xref: NCI:C5842
xref: NCI:C6377
xref: NCI:C6749
xref: NCI:C7006
xref: NCI:C9087
is_a: DOID:1115 ! sarcoma
is_a: DOID:201 ! connective tissue cancer
is_a: DOID:9002834 ! Herpesviridae Infections
is_a: DOID:9006948 ! Vascular Tissue Neoplasms

[Term]
id: DOID:8633
name: chronic intestinal vascular insufficiency
synonym: "chronic mesenteric ischemia" EXACT []
synonym: "CMI - chronic mesenteric ischaemia" EXACT []
xref: ICD9CM:557.1
is_a: DOID:5295 ! intestinal disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:8634
name: prostate carcinoma in situ
def: "An in situ carcinoma that is located_in the prostate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25046199 "DO"]
synonym: "carcinoma in situ of prostate" EXACT []
synonym: "grade III PIN" NARROW []
synonym: "Grade III Prostatic Intraepithelial Neoplasia" NARROW []
synonym: "Intraepithelial Prostatic Neoplasias" EXACT []
synonym: "PIN III" NARROW []
synonym: "Prostatic Intraepithelial Neoplasia" EXACT []
synonym: "Prostatic Intraepithelial Neoplasm" EXACT []
synonym: "Prostatic Intraepithelial Neoplasms" EXACT []
xref: EFO:0002621
xref: EFO:1000283
xref: ICD10CM:D07.5
xref: ICD9CM:233.4
xref: MESH:D019048
xref: NCI:C3642
is_a: DOID:10286 ! prostate carcinoma
is_a: DOID:8719 ! in situ carcinoma

[Term]
id: DOID:8635
name: uvula cancer
synonym: "malignant tumor of uvula" EXACT [SNOMEDCT_2005_07_31:363389001]
synonym: "malignant Uvular tumor" EXACT [NCI2004_11_17:C35177]
xref: ICD10CM:C05.2
xref: ICD9CM:145.4
xref: NCI:C35177
is_a: DOID:8578 ! soft palate cancer

[Term]
id: DOID:864
name: phlebitis
def: "A vein disease that is characterized by inflammation of a vein. (DO)" [http://en.wikipedia.org/wiki/Phlebitis "DO"]
synonym: "periphlebitides" EXACT []
synonym: "periphlebitis" EXACT []
synonym: "phlebitides" EXACT []
xref: EFO:1001395
xref: ICD10CM:I80
xref: MESH:D010689
xref: NCI:C38003
is_a: DOID:341 ! peripheral vascular disease
is_a: DOID:865 ! vasculitis
is_a: DOID:866 ! vein disease

[Term]
id: DOID:8642
name: Hodgkin's paragranuloma
synonym: "Hodgkin paragranuloma" EXACT []
xref: RDO:9004176
is_a: DOID:8567 ! Hodgkin's lymphoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:8643
name: duodenitis
def: "Inflammation of the DUODENUM section of the small intestine (INTESTINE, SMALL). Erosive duodenitis may cause bleeding in the UPPER GI TRACT and PEPTIC ULCER." [MESH:D004382]
synonym: "Erosive Duodenitis" EXACT []
synonym: "hemorrhagic duodenitis" EXACT []
xref: ICD10CM:K29.8
xref: ICD9CM:535.6
xref: MESH:D004382
xref: NCI:C94409
is_a: DOID:4072 ! duodenum disease
is_a: DOID:9007156 ! Enteritis

[Term]
id: DOID:8644
name: gastroduodenitis
xref: ICD9CM:535.4
is_a: DOID:750 ! peptic ulcer disease
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:8645
name: subacute delirium
def: "A disorder characterized by CONFUSION; inattentiveness; disorientation; ILLUSIONS; HALLUCINATIONS; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)" [MESH:D003693]
synonym: "delirium" EXACT []
synonym: "Delirium of Mixed Origin" EXACT []
synonym: "Mixed Origin Delirium" EXACT []
synonym: "mixed origin deliriums" EXACT []
synonym: "subacute deliriums" EXACT []
xref: EFO:0009267
xref: ICD9CM:293.1
xref: MESH:D003693
is_a: DOID:1561 ! cognitive disorder
is_a: DOID:8646 ! substance-induced psychosis
is_a: DOID:9000348 ! Confusion

[Term]
id: DOID:8646
name: substance-induced psychosis
def: "Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." [MESH:D011605]
synonym: "Drug Psychoses" EXACT []
synonym: "substance-induced psychoses" EXACT []
synonym: "Toxic Psychoses" EXACT []
xref: ICD9CM:293.89
xref: MESH:D011605
xref: RDO:0006434
is_a: DOID:2468 ! psychotic disorder
is_a: DOID:303 ! substance-related disorder
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:8649
name: tongue cancer
def: "Tumors or cancer of the TONGUE." [MESH:D014062]
synonym: "cancer of tongue" EXACT []
synonym: "malignant neoplasm of tongue" EXACT []
synonym: "malignant tongue neoplasm" EXACT []
synonym: "malignant tumor of tongue" EXACT []
synonym: "tongue cancers" EXACT []
xref: EFO:0003871
xref: GARD:7779
xref: ICD10CM:C01
xref: ICD10CM:C02.0
xref: ICD10CM:C02.1
xref: ICD10CM:C02.2
xref: ICD10CM:C02.4
xref: ICD10CM:C02.9
xref: ICD9CM:141
xref: ICD9CM:141.0
xref: ICD9CM:141.1
xref: ICD9CM:141.2
xref: ICD9CM:141.3
xref: ICD9CM:141.5
xref: ICD9CM:141.6
xref: NCI:C3524
xref: NCI:C9345
is_a: DOID:8618 ! oral cavity cancer
is_a: DOID:9005873 ! Tongue Neoplasms

[Term]
id: DOID:865
name: vasculitis
def: "A vascular disease that is characterized by inflammation of the blood vessels. (DO)" [http://en.wikipedia.org/wiki/Vasculitis "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/vas/ "DO", http://www.nlm.nih.gov/medlineplus/vasculitis.html "DO"]
synonym: "Angiitides" EXACT []
synonym: "Angiitis" EXACT []
synonym: "Vasculitides" EXACT []
xref: EFO:0006803
xref: GARD:9565
xref: MESH:D014657
xref: NCI:C26912
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:8651
name: Hodgkin's granuloma
synonym: "Hodgkin granuloma" EXACT []
synonym: "Hodgkins granuloma" EXACT []
is_a: DOID:8567 ! Hodgkin's lymphoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:8654
name: Hodgkin's lymphoma, mixed cellularity
synonym: "Hodgkin's disease, mixed cellularity" RELATED []
synonym: "Hodgkin lymphoma, mixed cellularity" EXACT [SNOMEDCT_2005_07_31:41529000]
synonym: "MCHL" EXACT [NCI2004_11_17:C3517]
xref: EFO:1002031
xref: ICD10CM:C81.2
xref: ICD9CM:201.6
xref: NCI:C3517
xref: RDO:9004180
is_a: DOID:8567 ! Hodgkin's lymphoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:8659
name: chickenpox
def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. (DO)" [http://www.nlm.nih.gov/medlineplus/chickenpox.html "DO"]
synonym: "chicken pox" EXACT []
synonym: "varicella" EXACT []
xref: EFO:0007204
xref: ICD10CM:B01.9
xref: ICD9CM:052
xref: MESH:D002644
xref: NCI:C97132
is_a: DOID:9004668 ! Varicella Zoster infection

[Term]
id: DOID:866
name: vein disease
def: "A vascular disease that is located_in a vein. (DO)" [http://en.wikipedia.org/wiki/Vein#Venous_diseases "DO"]
xref: ICD10CM:I82
xref: ICD9CM:453
is_a: DOID:178 ! vascular disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:8660
name: postcricoid region cancer
synonym: "malignant postcricoid tumor" EXACT []
synonym: "malignant tumor of pharyngoesophageal junction" EXACT []
xref: ICD10CM:C13.0
xref: ICD9CM:148.0
xref: NCI:C9323
is_a: DOID:8533 ! hypopharynx cancer
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:8661
name: lip carcinoma in situ
def: "An oral cavity carcinoma in situ that is located_in the lip. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1465369/ "DO"]
xref: ICD10CM:D00.0
xref: ICD9CM:230.0
is_a: DOID:0050610 ! oral cavity carcinoma in situ
is_a: DOID:9007400 ! Lip Neoplasms
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:8663
name: aryepiglottic fold cancer
synonym: "malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold" EXACT []
synonym: "malignant tumor aryepiglottic fold - hypopharyngeal aspect" EXACT []
xref: ICD10CM:C13.1
xref: ICD9CM:148.2
is_a: DOID:8533 ! hypopharynx cancer
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:867
name: maxillary sinus cholesteatoma
def: "A cholesteatoma located_in paranasal sinus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1503726 "DO"]
xref: EFO:1000731
xref: NCI:C35868
xref: RDO:9003151
is_a: DOID:1352 ! paranasal sinus disease
is_a: DOID:869 ! cholesteatoma
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:8670
name: eating disorder
def: "A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. (DO)" [http://en.wikipedia.org/wiki/Eating_disorder "DO"]
synonym: "Appetite Disorder" EXACT []
synonym: "appetite disorders" EXACT []
synonym: "Eating Disorders" EXACT []
synonym: "Feeding and Eating Disorders" EXACT []
synonym: "Feeding Disorder" EXACT []
synonym: "feeding disorders" EXACT []
xref: EFO:0005203
xref: ICD10CM:F50
xref: ICD9CM:307.50
xref: MESH:D001068
xref: NCI:C89332
is_a: DOID:0060038 ! specific developmental disorder
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:8672
name: viral exanthem
xref: EFO:1000776
xref: ICD9CM:057.8
is_a: DOID:0050486 ! exanthem
is_a: DOID:934 ! viral infectious disease
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:8677
name: perinatal necrotizing enterocolitis
def: "ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT." [MESH:D020345]
synonym: "NEC" EXACT []
synonym: "necrotizing enterocolitis" EXACT []
synonym: "necrotizing enterocolitis in fetus or newborn" EXACT []
synonym: "perinatal necrotising enterocolitis" EXACT []
synonym: "pseudomembranous enterocolitis in newborn" EXACT []
xref: EFO:0003928
xref: ICD10CM:K55.3
xref: ICD10CM:K55.30
xref: MESH:D020345
is_a: DOID:9002805 ! Enterocolitis

[Term]
id: DOID:8680
name: alcoholic gastritis
synonym: "Alcoholic gastritis, with hemorrhage" EXACT []
synonym: "Alcoholic gastritis, without mention of hemorrhage" EXACT []
xref: ICD10CM:K29.2
xref: ICD9CM:535.3
xref: NCI:C26977
is_a: DOID:4029 ! gastritis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:8681
name: paraneoplastic polyneuropathy
alt_id: RDO:9002725
def: "A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" [MESH:D020364]
synonym: "Paraneoplastic Neuropathies" EXACT []
synonym: "Paraneoplastic Neuropathy" EXACT []
synonym: "Paraneoplastic Peripheral Neuropathies" EXACT []
synonym: "Paraneoplastic Peripheral Neuropathy" EXACT []
synonym: "Paraneoplastic Polyneuropathies" EXACT []
xref: EFO:1001085
xref: ICD9CM:357.3
xref: MESH:D020364
xref: NCI:C3981
xref: RDO:0007402
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:2537 ! inflammatory and toxic neuropathy
is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes

[Term]
id: DOID:8683
name: myeloid sarcoma
def: "An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." [MESH:D023981]
synonym: "Chloroma" EXACT []
synonym: "chloromas" EXACT []
synonym: "Extramedullary Myeloid Cell Tumor" EXACT []
synonym: "extramedullary myeloid tumor" EXACT []
synonym: "Granulocytic Sarcoma" EXACT []
synonym: "Granulocytic Sarcomas" EXACT []
synonym: "myeloid sarcomas" EXACT []
xref: EFO:1001052
xref: GARD:12763
xref: ICD10CM:C92.3
xref: ICDO:9930/3
xref: MESH:D023981
xref: NCI:C3520
xref: NCI:C35815
is_a: DOID:1115 ! sarcoma
is_a: DOID:2531 ! hematologic cancer
is_a: DOID:8692 ! myeloid leukemia

[Term]
id: DOID:8687
name: skin carcinoma in situ
def: "A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues. (DO)" [http://en.wikipedia.org/wiki/Carcinoma_in_situ "DO"]
synonym: "carcinoma in situ of skin" EXACT []
synonym: "cutaneous carcinoma in situ" EXACT []
xref: ICD10CM:D04
xref: ICD10CM:D04.0
xref: ICD10CM:D04.2
xref: ICD10CM:D04.3
xref: ICD10CM:D04.4
xref: ICD10CM:D04.6
xref: ICD10CM:D04.7
xref: ICD9CM:232
xref: ICD9CM:232.0
xref: ICD9CM:232.2
xref: ICD9CM:232.3
xref: ICD9CM:232.4
xref: ICD9CM:232.5
xref: ICD9CM:232.6
xref: ICD9CM:232.7
xref: MONDO:0004641
xref: NCI:C3640
is_a: DOID:3451 ! skin carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:8688
name: tonsillar pillar cancer
synonym: "malignant neoplasm of tonsillar pillar" EXACT [SNOMEDCT_2005_07_31:94103007]
synonym: "malignant neoplasm of tonsillar pillars, posterior" EXACT [MTHICD9_2006:146.2]
synonym: "malignant tumor of tonsillar pillar" EXACT [SNOMEDCT_2005_07_31:187675005]
synonym: "malignant tumour of tonsillar pillar" EXACT []
xref: ICD10CM:C09.1
xref: ICD9CM:146.2
is_a: DOID:8557 ! oropharynx cancer

[Term]
id: DOID:8689
name: anorexia nervosa
alt_id: MIM:606788
def: "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. (DO)" [http://en.wikipedia.org/wiki/Anorexia_nervosa "DO"]
synonym: "AN" EXACT []
synonym: "ANON" EXACT []
synonym: "ANON1" EXACT []
synonym: "Anorexia Nervosas" EXACT []
synonym: "ANOREXIA NERVOSA, SUSCEPTIBILITY TO" RELATED []
synonym: "ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1" RELATED []
xref: EFO:0004215
xref: ICD10CM:F50.0
xref: ICD9CM:307.1
xref: MESH:D000856
xref: MONDO:0005351
xref: NCI:C34387
is_a: DOID:8670 ! eating disorder

[Term]
id: DOID:869
name: cholesteatoma
def: "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction. (DO)" [https://en.wikipedia.org/wiki/Cholesteatoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/26223725 "DO"]
synonym: "cholesteatomas" EXACT []
xref: EFO:1000675
xref: GARD:10422
xref: ICD10CM:H71.9
xref: ICD9CM:385.30
xref: MESH:D002781
xref: NCI:C2944
is_a: DOID:161 ! keratosis

[Term]
id: DOID:8691
name: mycosis fungoides
alt_id: MIM:254400
def: "A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." [MESH:D009182]
synonym: "MF" EXACT []
synonym: "mycosis fungoides lymphoma" EXACT []
xref: EFO:1001051
xref: GARD:3863
xref: ICD10CM:C84.0
xref: ICD9CM:202.1
xref: ICDO:9700/3
xref: MESH:D009182
xref: NCI:C3246
is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma

[Term]
id: DOID:8692
name: myeloid leukemia
alt_id: OMIA:001573
def: "A leukemia that is located_in myeloid tissue. (DO)" [http://en.wikipedia.org/wiki/Myeloid_leukemia "DO"]
synonym: "chronic myeloid leukemia" NARROW []
synonym: "Granulocytic Leukemia" EXACT []
synonym: "granulocytic leukemias" EXACT []
synonym: "leukaemia myelogenous" EXACT []
synonym: "Myelocytic Leukemia" EXACT []
synonym: "Myelocytic Leukemias" EXACT []
synonym: "Myelogenous Leukemia" EXACT []
synonym: "myelogenous leukemias" EXACT []
synonym: "myeloid granulocytic leukaemia" EXACT []
synonym: "myeloid granulocytic leukemia" EXACT []
synonym: "myeloid leukaemia" EXACT []
synonym: "myeloid leukemias" EXACT []
synonym: "non-lymphocytic leukemia" EXACT []
xref: GARD:8226
xref: ICD10CM:C92
xref: ICD9CM:205
xref: ICDO:9860/3
xref: MESH:D007951
xref: NCI:C21889
xref: NCI:C3172
is_a: DOID:1240 ! leukemia

[Term]
id: DOID:8696
name: subacute monocytic leukemia
xref: ICD9CM:206.2
xref: RDO:9002326
is_a: DOID:8527 ! monocytic leukemia
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:870
name: neuropathy
def: "A nervous system disease that is located_in nerves or nerve cells. (DO)" [http://en.wikipedia.org/wiki/Neuropathy_%28disambiguation%29 "DO"]
synonym: "AUTOSOMAL RECESSIVE AXONAL HEREDITARY MOTOR AND SENSORY NEUROPATHY" NARROW []
synonym: "peripheral neuropathy" EXACT []
xref: EFO:0003100
xref: EFO:0004149
xref: ICD10CM:G62.9
xref: NCI:C4731
is_a: DOID:574 ! peripheral nervous system disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:8702
name: cheek mucosa cancer
synonym: "malignant neoplasm of buccal mucosa" EXACT [SNOMEDCT_2005_07_31:93735006]
synonym: "malignant neoplasm of cheek, inner aspect" EXACT [MTHICD9_2006:145.0]
synonym: "malignant neoplasm of the Buccal Mucosa" EXACT [NCI2004_11_17:C9320]
synonym: "malignant tumor of buccal mucosa" EXACT [SNOMEDCT_2005_07_31:363386008]
xref: ICD10CM:C06.0
xref: ICD9CM:145.0
xref: NCI:C9320
is_a: DOID:8618 ! oral cavity cancer

[Term]
id: DOID:8704
name: genital herpes
def: "A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. (DO)" [http://www.cdc.gov/std/herpes/stdfact-herpes.htm "DO"]
synonym: "Genital Herpes Simplex" EXACT []
synonym: "herpes genitalia" EXACT []
synonym: "Herpes Genitalis" EXACT []
synonym: "Herpes Simplex Virus Genital Infection" EXACT []
synonym: "venereal herpes" EXACT []
synonym: "virus-genital herpes" EXACT []
xref: EFO:0007282
xref: ICD9CM:054.1
xref: MESH:D006558
xref: NCI:C14364
is_a: DOID:8566 ! herpes simplex
is_a: DOID:9003767 ! Viral Sexually Transmitted Diseases

[Term]
id: DOID:8712
name: neurofibromatosis
def: "A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)" [MESH:D017253]
synonym: "Multiple Neurofibroma" EXACT []
synonym: "multiple neurofibromas" EXACT []
synonym: "neurofibromatoses" EXACT []
synonym: "neurofibromatosis 3" NARROW []
synonym: "neurofibromatosis syndrome" EXACT []
synonym: "neurofibromatosis syndromes" EXACT []
synonym: "neurofibromatosis type 3" NARROW []
synonym: "neurofibromatosis type 4" NARROW []
synonym: "NEUROFIBROMATOSIS TYPE 6" NARROW []
synonym: "neurofibromatosis type IV" NARROW []
synonym: "type IV neurofibromatosis of Riccardi" NARROW []
xref: EFO:0003092
xref: EFO:0008514
xref: GARD:10420
xref: ICD10CM:Q85.0
xref: ICD9CM:237.7
xref: MESH:D017253
xref: NCI:C6727
xref: ORDO:634518
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080690 ! RASopathy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9001734 ! Neurocutaneous Syndromes
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes
is_a: DOID:962 ! neurofibroma

[Term]
id: DOID:8717
name: decubitus ulcer
def: "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37590857/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK553107/ "DO"]
synonym: "Bed Sore" EXACT []
synonym: "Bedsore" EXACT []
synonym: "Bedsores" EXACT []
synonym: "bed sores" EXACT []
synonym: "decubitus (pressure) ulcer" EXACT []
synonym: "decubitus ulcer any site" EXACT []
synonym: "Decubitus Ulcers" EXACT []
synonym: "Pressure Sore" EXACT []
synonym: "Pressure Sores" EXACT []
synonym: "Pressure Ulcer" EXACT []
synonym: "pressure ulcers" EXACT []
xref: EFO:0007067
xref: ICD10CM:L89
xref: ICD9CM:707.0
xref: MESH:D003668
xref: NCI:C50706
is_a: DOID:8549 ! chronic ulcer of skin

[Term]
id: DOID:8719
name: in situ carcinoma
def: "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. (DO)" [http://en.wikipedia.org/wiki/Carcinoma_in_situ "DO"]
synonym: "Intraepithelial Carcinoma" EXACT []
synonym: "Intraepithelial Neoplasm" EXACT []
synonym: "Intraepithelial Neoplasms" EXACT []
synonym: "Preinvasive Carcinoma" EXACT []
xref: ICD10CM:D09.9
xref: ICD9CM:230-234.99
xref: MESH:D002278
xref: NCI:C2917
is_a: DOID:0060071 ! pre-malignant neoplasm
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:8725
name: vascular dementia
def: "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. (DO)" [http://www.mayoclinic.com/health/vascular-dementia/DS00934 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm "DO"]
synonym: "acute onset vascular dementia" EXACT []
synonym: "Arteriosclerotic Dementia" EXACT []
synonym: "arteriosclerotic dementias" EXACT []
synonym: "Binswanger's Disease" EXACT []
synonym: "Binswanger's Encephalopathy" EXACT []
synonym: "Binswanger Disease" EXACT []
synonym: "Binswanger Encephalopathy" EXACT []
synonym: "Binswangers Disease" EXACT []
synonym: "Chronic Progressive Subcortical Encephalopathy" EXACT []
synonym: "Encephalopathy, Binswangers" EXACT []
synonym: "multifocal dementia" EXACT []
synonym: "Multi Infarct Dementia" EXACT []
synonym: "Subcortical Arteriosclerotic Encephalopathies" EXACT []
synonym: "Subcortical Arteriosclerotic Encephalopathy" EXACT []
synonym: "Subcortical Leukoencephalopathies" EXACT []
synonym: "Subcortical Leukoencephalopathy" EXACT []
synonym: "Subcortical Vascular Dementia" EXACT []
synonym: "subcortical vascular dementias" EXACT []
synonym: "vascular dementias" EXACT []
xref: EFO:0004718
xref: ICD10CM:F01
xref: ICD9CM:290.4
xref: MESH:D015140
xref: NCI:C34522
xref: NCI:C34525
is_a: DOID:1307 ! dementia
is_a: DOID:13097 ! intracranial arteriosclerosis
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9002704 ! Leukoencephalopathies

[Term]
id: DOID:8729
name: milker's nodule
def: "A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy. (DO)" [http://www.cfsph.iastate.edu/FastFacts/pdfs/pseudocowpox_F.pdf "DO"]
synonym: "Milker's Node" EXACT []
synonym: "Milker's Nodes" EXACT []
synonym: "Milker Nodes" EXACT []
synonym: "milker nodule" EXACT []
synonym: "milkers' node" EXACT []
synonym: "Milkers Nodes" EXACT []
synonym: "paravaccinia" EXACT []
synonym: "Poxviridae Infection" EXACT []
synonym: "Poxviridae Infections" EXACT []
synonym: "Poxvirus Infection" EXACT []
synonym: "Poxvirus Infections" EXACT []
synonym: "pseudocowpox" RELATED []
xref: EFO:0007370
xref: ICD10CM:B08.04
xref: ICD9CM:051.9
xref: MESH:D011213
is_a: DOID:9000251 ! DNA Virus Infections

[Term]
id: DOID:873
name: anaerobic pneumonia
def: "An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease. (DO)" [http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg "DO"]
synonym: "pneumonia due to anaerobes" EXACT []
xref: ICD9CM:482.81
xref: RDO:9003298
is_a: DOID:0050152 ! aspiration pneumonia
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:8731
name: carotid body cancer
def: "A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. (DO)" [http://www.wrongdiagnosis.com/medical/carotid_body_tumor.htm "DO"]
synonym: "cancer of carotid body" RELATED []
synonym: "malignant Carotid body Paraganglioma" EXACT [NCI2004_11_17:C3574]
synonym: "malignant carotid body tumor" EXACT [SNOMEDCT_2005_07_31:16822006]
xref: ICD10CM:C75.4
xref: ICD9CM:194.5
xref: NCI:C3574
is_a: DOID:175 ! vascular cancer
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:8736
name: smallpox
def: "A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus, which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk. (DO)" [http://www.who.int/csr/disease/smallpox/en/ "DO"]
synonym: "ordinary smallpox" EXACT []
synonym: "variola" EXACT []
synonym: "variolas" EXACT []
xref: GARD:7444
xref: ICD10CM:B03
xref: ICD9CM:050
xref: MESH:D012899
xref: NCI:C35027
is_a: DOID:8729 ! milker's nodule
is_a: DOID:9001063 ! Viral Skin Diseases

[Term]
id: DOID:8738
name: leukoplakia of penis
synonym: "kraurosis of penis" EXACT []
synonym: "penile leukoplakia" EXACT []
xref: EFO:1001015
xref: ICD10CM:N48.0
xref: ICD9CM:607.0
xref: NCI:C3151
is_a: DOID:1529 ! penile disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:874
name: bacterial pneumonia
def: "A pneumonia involving inflammation of the lungs caused by bacteria. (DO)" [http://en.wikipedia.org/wiki/Bacterial_pneumonia "DO"]
synonym: "Bacterial Pneumonias" EXACT []
synonym: "gram-negative pneumonia" EXACT []
synonym: "pneumonia due to other gram-negative bacteria" EXACT []
xref: EFO:1001272
xref: ICD10CM:J15.9
xref: ICD9CM:482.9
xref: MESH:D018410
xref: NCI:C26704
is_a: DOID:552 ! pneumonia
is_a: DOID:9008559 ! Bacterial Lung Diseases

[Term]
id: DOID:8741
name: seborrheic dermatitis
def: "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm "DO"]
synonym: "Dermatitis Seborrheica" EXACT []
synonym: "Seborrhea" EXACT []
synonym: "Seborrheic Dermatitides" EXACT []
synonym: "Seborrhoeic dermatitis" EXACT []
synonym: "Seborrhoeic eczema" EXACT []
synonym: "skin seborrheic" EXACT []
xref: EFO:1000764
xref: ICD10CM:L21
xref: ICD9CM:690.1
xref: MESH:D012628
xref: NCI:C111888
is_a: DOID:2723 ! dermatitis
is_a: DOID:9004383 ! Eczematous Skin Diseases
is_a: DOID:9008246 ! Papulosquamous Skin Diseases
is_a: DOID:9098 ! sebaceous gland disease

[Term]
id: DOID:8743
name: erythema infectiosum
def: "Contagious infection with human B19 Parvovirus most commonly seen in school age children and characterized by fever, headache, and rashes of the face, trunk, and extremities. It is often confused with rubella." [MESH:D016731]
synonym: "Fifth Disease" EXACT []
xref: EFO:1000693
xref: ICD10CM:B08.3
xref: ICD9CM:057.0
xref: MESH:D016731
xref: NCI:C84695
is_a: DOID:8672 ! viral exanthem
is_a: DOID:9000331 ! Parvoviridae Infections
is_a: DOID:9006976 ! Erythema

[Term]
id: DOID:8757
name: gastric mucosal hypertrophy
alt_id: MIM:137280
alt_id: RDO:0005652
def: "GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS." [MESH:D005758]
synonym: "familial giant hypertrophic gastritis" EXACT []
synonym: "Gastritis, Hypertrophic" EXACT []
synonym: "Giant Hypertrophic Gastritis" EXACT []
synonym: "giant rugal hypertrophy of stomach" EXACT [SNOMEDCT_2005_07_31:235665008]
synonym: "hypertrophic gastropathy" EXACT [SNOMEDCT_2005_07_31:413219009]
synonym: "Menetrier's Disease" EXACT []
synonym: "Menetrier Disease" EXACT []
synonym: "Menetriers disease" EXACT []
xref: EFO:1000946
xref: ICD10CM:K29.6
xref: ICD9CM:535.2
xref: MESH:D005758
xref: NCI:C67277
is_a: DOID:4029 ! gastritis

[Term]
id: DOID:876
name: pyomyositis
def: "An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS." [MESH:D052880]
synonym: "Tropical Myositis" EXACT []
synonym: "tropical pyomyositis" EXACT []
xref: EFO:1001409
xref: GARD:4614
xref: ICD10CM:M60.0
xref: ICD9CM:040.81
xref: MESH:D052880
xref: NCI:C128382
is_a: DOID:633 ! myositis
is_a: DOID:9005889 ! Suppuration

[Term]
id: DOID:8761
name: acute megakaryocytic leukemia
def: "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. (DO)" [https://en.wikipedia.org/wiki/Acute_megakaryoblastic_leukemia "DO", https://pubmed.ncbi.nlm.nih.gov/26228843/ "DO", https://www.orpha.net/data/patho/GB/uk-AMLM7.pdf "DO"]
synonym: "acute megakaryoblastic leukaemia, FAB M7" EXACT []
synonym: "acute megakaryoblastic leukemia" EXACT []
synonym: "acute megakaryoblastic leukemia, FAB M7" EXACT []
synonym: "acute megakaryoblastic leukemias" EXACT []
synonym: "Acute Megakaryocytic Leukemias" EXACT []
synonym: "acute myeloid leukemia, M7" EXACT []
synonym: "adult acute megakaryoblastic leukemia" NARROW []
synonym: "megakaryocytic leukemia" EXACT []
synonym: "megakaryocytic leukemias" EXACT []
synonym: "megakaryocytic myelosis" EXACT []
synonym: "thrombocytic leukaemia" EXACT []
xref: EFO:0003025
xref: EFO:1001932
xref: GARD:524
xref: ICD10CM:C94.2
xref: ICD9CM:207.2
xref: ICDO:9910/3
xref: MESH:D007947
xref: NCI:C3170
is_a: DOID:9119 ! acute myeloid leukemia

[Term]
id: DOID:8771
name: contagious pustular dermatitis
def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis. (DO)" [http://en.wikipedia.org/wiki/Orf_%28disease%29 "DO", http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5503a1.htm "DO"]
synonym: "contagious ecthyma" EXACT []
synonym: "contagious pustular dermatitides" EXACT []
synonym: "ecthyma contagiosum" EXACT []
synonym: "Orf" EXACT []
synonym: "Orf virus infection" EXACT []
synonym: "scabby mouth" EXACT []
synonym: "sheep pox" EXACT []
synonym: "thistle disease" EXACT []
xref: EFO:0007222
xref: ICD10CM:B08.02
xref: ICD9CM:051.2
xref: MESH:D004474
is_a: DOID:37 ! skin disease
is_a: DOID:8729 ! milker's nodule
is_a: DOID:9006097 ! Sheep Diseases

[Term]
id: DOID:8778
name: Crohn's disease
alt_id: MIM:266600
def: "An intestinal disease that involves inflammation located_in intestine. (DO)" [http://en.wikipedia.org/wiki/Chron%27s_disease "DO", https://www.genome.gov/Genetic-Disorders/Crohns-Disease "DO"]
synonym: "Crohn's disease of colon" EXACT []
synonym: "Crohn's disease of large bowel" EXACT []
synonym: "Crohn's enteritis" EXACT []
synonym: "Crohn disease" EXACT []
synonym: "CROHN DISEASE, ASSOCIATION WITH" RELATED []
synonym: "Crohns disease" EXACT []
synonym: "granulomatous colitis" EXACT []
synonym: "granulomatous enteritis" EXACT []
synonym: "inflammatory bowel disease 1" EXACT []
synonym: "INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO" RELATED []
synonym: "oral Crohn's disease" NARROW []
synonym: "regional enteritis" EXACT []
synonym: "regional ileitides" EXACT []
synonym: "regional ileitis" EXACT []
synonym: "terminal ileitis" EXACT []
xref: EFO:0000384
xref: EFO:0005625
xref: GARD:10232
xref: MESH:D003424
xref: NCI:C2965
is_a: DOID:0050589 ! inflammatory bowel disease

[Term]
id: DOID:8781
name: rubella
def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. (DO)" [http://en.wikipedia.org/wiki/Rubella "DO"]
synonym: "German Measles" EXACT []
synonym: "Rubellas" EXACT []
synonym: "Three Day Measle" EXACT []
synonym: "Three Day Measles" EXACT []
xref: EFO:1002026
xref: GARD:4742
xref: ICD10CM:B06.9
xref: ICD9CM:056
xref: MESH:D012409
xref: NCI:C85051
is_a: DOID:2365 ! West Nile encephalitis
is_a: DOID:9003691 ! Rubivirus Infections

[Term]
id: DOID:8787
name: disseminated chorioretinitis
xref: ICD10CM:H30.1
xref: ICD9CM:363.1
xref: RDO:9003513
is_a: DOID:8886 ! chorioretinitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:8791
name: breast carcinoma in situ
def: "An in situ carcinoma that is located_in the breast. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26431342 "DO"]
synonym: "carcinoma in situ of breast" EXACT []
synonym: "Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ" NARROW []
synonym: "non-infiltrating carcinoma of breast" EXACT []
xref: EFO:1000221
xref: ICD10CM:D05
xref: ICD9CM:233.0
xref: MESH:D000071960
is_a: DOID:3459 ! breast carcinoma
is_a: DOID:8719 ! in situ carcinoma

[Term]
id: DOID:8792
name: eye carcinoma in situ
def: "A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues. (DO)" [http://en.wikipedia.org/wiki/Carcinoma_in_situ "DO"]
synonym: "carcinoma in situ of eye" EXACT []
xref: ICD10CM:D09.2
xref: ICD9CM:234.0
is_a: DOID:295 ! eye carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:8800
name: lung carcinoma in situ
def: "An in situ carcinoma that is located_in the lung. (DO)" [https://www.cancer.org/treatment/understanding-your-diagnosis/tests/understanding-your-pathology-report/lung-pathology/lung-cancer-in-situ-pathology.html "DO"]
xref: ICD10CM:D02.2
xref: ICD9CM:231.2
is_a: DOID:3905 ! lung carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:8802
name: trachea carcinoma in situ
def: "An in situ carcinoma that is located_in the trachea. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076722/ "DO"]
synonym: "carcinoma in situ of trachea" EXACT [SNOMEDCT_2005_07_31:92772005]
synonym: "Tracheal carcinoma In situ" EXACT [NCI2004_11_17:C3639]
xref: ICD10CM:D02.1
xref: ICD9CM:231.1
xref: NCI:C3639
xref: RDO:9003583
is_a: DOID:4876 ! trachea carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:8805
name: intermediate coronary syndrome
def: "Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." [MESH:D000789]
synonym: "angina at rest" EXACT []
synonym: "anginal chest pain at rest" EXACT []
synonym: "impending infarction" EXACT []
synonym: "Myocardial Preinfarction Syndrome" EXACT []
synonym: "myocardial preinfarction syndromes" EXACT []
synonym: "Preinfarction Angina" EXACT []
synonym: "Preinfarction Anginas" EXACT []
synonym: "unstable angina" EXACT []
synonym: "Unstable Angina Pectori" EXACT []
synonym: "Unstable Angina Pectoris" EXACT []
synonym: "unstable anginas" EXACT []
synonym: "worsening angina" EXACT []
xref: EFO:0020925
xref: EFO:1000985
xref: ICD10CM:I20.0
xref: ICD9CM:411.1
xref: MESH:D000789
xref: MONDO:0006805
xref: NCI:C66911
is_a: DOID:3393 ! coronary artery disease
is_a: DOID:9000483 ! Angina Pectoris

[Term]
id: DOID:882
name: heterophyiasis
def: "A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Heterophyiasis.htm "DO"]
synonym: "heterophyes infectious disease" EXACT []
xref: ICD10CM:B66.8
xref: ICD9CM:121.6
xref: NCI:C128389
is_a: DOID:114 ! heart disease
is_a: DOID:888 ! fasciolopsiasis
is_a: DOID:936 ! brain disease
created_by: rgd
creation_date: 2017-10-05T00:00:00Z

[Term]
id: DOID:8826
name: colon carcinoma in situ
def: "An intestine carcinoma in situ that is located_in the colon. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/622667 "DO"]
synonym: "carcinoma in situ of colon" EXACT []
synonym: "stage 0 colonic carcinoma" EXACT []
xref: ICD10CM:D01.0
xref: ICD9CM:230.3
is_a: DOID:1520 ! colon carcinoma
is_a: DOID:9024 ! intestine carcinoma in situ
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:883
name: parasitic helminthiasis infectious disease
def: "A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. (DO)" [http://en.wikipedia.org/wiki/Helminth "DO", http://en.wikipedia.org/wiki/Helminthiasis "DO"]
synonym: "helminthiases" EXACT []
synonym: "helminthiasis" EXACT []
synonym: "helminth infection" EXACT []
synonym: "helminthosis" EXACT []
synonym: "nematomorpha infection" EXACT []
synonym: "nematomorpha infections" EXACT []
synonym: "worm infection" EXACT []
xref: EFO:1001342
xref: ICD10CM:B83.9
xref: ICD9CM:120-129.99
xref: MESH:D006373
xref: NCI:C84751
is_a: DOID:1398 ! parasitic infectious disease

[Term]
id: DOID:8838
name: Hodgkin's lymphoma, nodular sclerosis
synonym: "Classical Hodgkin lymphoma, nodular sclerosis" EXACT []
synonym: "Hodgkin's disease, nodular sclerosis" RELATED []
synonym: "Hodgkin's disease, nodular sclerosis of unspecified site" EXACT [SNOMEDCT_2005_07_31:188564003]
synonym: "Hodgkin lymphoma, nodular sclerosis" EXACT []
synonym: "NSHL" EXACT [NCI2004_11_17:C3518]
xref: EFO:0004708
xref: ICD10CM:C81.1
xref: ICD9CM:201.5
xref: NCI:C3518
xref: RDO:9004182
is_a: DOID:8567 ! Hodgkin's lymphoma
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:884
name: metagonimiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Metagonimiasis.htm "DO"]
synonym: "infection by metagonimus yokogawai" EXACT []
synonym: "metagonimiases" EXACT []
xref: EFO:1001438
xref: ICD9CM:121.5
xref: NCI:C128390
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:9002892 ! Parasitic Intestinal Diseases
is_a: DOID:9004459 ! Trematode Infections

[Term]
id: DOID:8849
name: sublingual gland cancer
def: "A salivary gland cancer that is located_in the sublingual gland. (DO)" [http://en.wikipedia.org/wiki/Sublingual_gland "DO"]
synonym: "malignant tumor of sublingual gland" EXACT []
synonym: "malignant tumor of the sublingual gland" EXACT []
xref: ICD10CM:C08.1
xref: ICD9CM:142.2
xref: NCI:C3527
is_a: DOID:8850 ! salivary gland cancer

[Term]
id: DOID:885
name: fascioliasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Fascioliasis.htm "DO"]
synonym: "Fasciola hepatica infection" EXACT []
synonym: "Fascioliases" EXACT []
synonym: "infection by Fasciola" EXACT []
synonym: "liver flukes" EXACT []
synonym: "sheep liver fluke infection" EXACT []
xref: EFO:1001324
xref: GARD:6428
xref: ICD10CM:B66.3
xref: ICD9CM:121.3
xref: MESH:D005211
xref: NCI:C128387
is_a: DOID:4138 ! bile duct disease
is_a: DOID:888 ! fasciolopsiasis
is_a: DOID:9003155 ! Parasitic Liver Diseases

[Term]
id: DOID:8850
name: salivary gland cancer
def: "An oral cavity cancer that is located_in the salivary gland. (DO)" [http://www.cancer.gov/dictionary?CdrID=446528 "DO"]
synonym: "cancer of salivary gland" EXACT []
synonym: "malignant neoplasm of salivary gland" EXACT []
synonym: "malignant tumor of the salivary gland" EXACT []
xref: EFO:0003826
xref: ICD10CM:C08
xref: ICD9CM:142.8
is_a: DOID:8618 ! oral cavity cancer
is_a: DOID:9003216 ! Salivary Gland Neoplasms
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:8857
name: lupus erythematosus
def: "An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29366725 "DO"]
synonym: "lupus" EXACT []
xref: ICD10CM:L93
xref: ICD9CM:695.4
xref: NCI:C27153
is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:8858
name: tonsil cancer
synonym: "cancer of tonsil" EXACT []
synonym: "malignant neoplasm of palatine tonsil" EXACT []
synonym: "malignant neoplasm of tonsil, faucial" EXACT []
synonym: "malignant tonsillar tumor" EXACT []
synonym: "malignant tumor of tonsil" EXACT []
synonym: "tonsil cancers" EXACT []
synonym: "tonsillar cancer" EXACT []
synonym: "tonsillar cancers" EXACT []
xref: EFO:1001214
xref: ICD10CM:C09
xref: ICD9CM:146.0
xref: NCI:C7404
is_a: DOID:0060073 ! lymphatic system cancer
is_a: DOID:8557 ! oropharynx cancer
is_a: DOID:9008384 ! Tonsillar Neoplasms
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:8861
name: pulmonary subvalvular stenosis
def: "Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort." [MESH:D011662]
synonym: "Congenital Infundibular Stenosis" EXACT [NCI2004_11_17:C34961]
synonym: "Infundibular pulmonic stenosis" EXACT [SNOMEDCT_2005_07_31:3192005]
synonym: "Infundibular pulmonic stenosis, congenital" EXACT [ICD9CM_2006:746.83]
synonym: "Obstructive Subaortic Conus" EXACT []
synonym: "Pulmonary Infundibular Stenoses" EXACT []
synonym: "Pulmonary Infundibular Stenosis" EXACT []
synonym: "Pulmonary Subvalvular Stenoses" EXACT []
synonym: "Subvalvular pulmonic stenosis" EXACT [MTHICD9_2006:746.83]
xref: EFO:1001137
xref: ICD10CM:Q24.3
xref: ICD9CM:746.83
xref: MESH:D011662
xref: NCI:C34961
xref: RDO:0006440
is_a: DOID:6420 ! pulmonary valve stenosis

[Term]
id: DOID:8864
name: acute monocytic leukemia
alt_id: MIM:151380
def: "A monocytic leukemia where the majority of monocytic cells are promonocytes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=18.09d&ns=ncit&code=C4861 "DO"]
synonym: "acute monoblastic leukemia" EXACT []
synonym: "acute monoblastic leukemia and acute monocytic leukemia" EXACT []
synonym: "Acute Monoblastic Leukemias" EXACT []
synonym: "acute monocytic leukaemia" EXACT []
synonym: "acute monocytic leukaemia without mention of remission" EXACT []
synonym: "acute monocytic leukemia, FAB M5" EXACT []
synonym: "acute monocytic leukemia, morphology" EXACT []
synonym: "acute monocytic leukemias" EXACT []
synonym: "acute monocytic leukemia without mention of remission" EXACT []
synonym: "childhood acute monocytic leukemia" NARROW []
synonym: "Myeloid Leukemia, Acute, M5" EXACT []
synonym: "Schilling-type myeloid leukemia" EXACT []
xref: EFO:0000221
xref: EFO:1001944
xref: GARD:525
xref: ICD9CM:206.0
xref: ICDO:9891/3
xref: MESH:D007948
xref: NCI:C7171
is_a: DOID:8527 ! monocytic leukemia
is_a: DOID:9119 ! acute myeloid leukemia

[Term]
id: DOID:8866
name: actinic keratosis
def: "White or pink lesions on the arms, hands, face, or scalp that arise from sun-induced DNA DAMAGE to KERATINOCYTES in exposed areas. They are considered precursor lesions to superficial SQUAMOUS CELL CARCINOMA." [MESH:D055623]
synonym: "actinic (Solar) Keratosis" EXACT [NCI2004_11_17:C3148]
synonym: "Actinic Keratoses" EXACT []
synonym: "senile hyperkeratosis" EXACT []
synonym: "SK - solar keratosis" EXACT []
synonym: "Solar Keratosis" EXACT []
xref: EFO:0002496
xref: ICD10CM:L57.0
xref: ICD9CM:702.0
xref: ICDO:8070/0
xref: MESH:D055623
xref: NCI:C3148
is_a: DOID:0060071 ! pre-malignant neoplasm
is_a: DOID:161 ! keratosis

[Term]
id: DOID:8867
name: molluscum contagiosum
def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. (DO)" [http://en.wikipedia.org/wiki/Molluscum_contagiosum "DO", http://www.cdc.gov/ncidod/dvrd/molluscum/overview.htm "DO"]
xref: EFO:0007375
xref: ICD10CM:B08.1
xref: ICD9CM:078.0
xref: MESH:D008976
xref: NCI:C155872
is_a: DOID:8729 ! milker's nodule
is_a: DOID:9001063 ! Viral Skin Diseases

[Term]
id: DOID:8869
name: neuromyelitis optica
def: "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). (DO)" [http://en.wikipedia.org/wiki/Neuromyelitis_optica "DO", http://rarediseases.org/rare-diseases/neuromyelitis-optica/ "DO"]
synonym: "AQP4-IgG-negative neuromyelitis optica" NARROW []
synonym: "AQP4-IgG-positive neuromyelitis optica" NARROW []
synonym: "Devic's disease" EXACT []
synonym: "Devic's neuromyelitis optica" EXACT []
synonym: "Devic's syndrome" EXACT []
synonym: "Devic disease" EXACT []
synonym: "Devic neuromyelitis optica" EXACT []
synonym: "Devic neuromyelitis opticas" EXACT []
synonym: "Devics disease" EXACT []
synonym: "Devics Neuromyelitis Optica" EXACT []
synonym: "Devics syndrome" EXACT []
synonym: "Devic syndrome" EXACT []
synonym: "neuromyelitis optica (NMO) spectrum disorder" EXACT []
synonym: "neuromyelitis optica spectrum disorder" EXACT []
synonym: "NMO spectrum disorder" EXACT []
xref: EFO:0004256
xref: EFO:0009584
xref: EFO:0009585
xref: GARD:6267
xref: ICD10CM:G36.0
xref: ICD9CM:341.0
xref: MESH:D009471
xref: NCI:C84934
xref: ORDO:71211
is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system
is_a: DOID:0080743 ! transverse myelitis
is_a: DOID:1210 ! optic neuritis

[Term]
id: DOID:8872
name: penis carcinoma in situ
def: "An in situ carcinoma that is located_in the penis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8126803 "DO"]
synonym: "Bowen's disease of penis" EXACT []
synonym: "carcinoma in situ of penis" EXACT []
synonym: "grade III squamous Intraepithelial lesion of penis" EXACT []
synonym: "penile intraepithelial neoplasia grade III" EXACT []
synonym: "Queyrat's erythroplasia" EXACT []
xref: ICD10CM:D07.4
xref: ICD9CM:233.5
xref: NCI:C27790
is_a: DOID:3449 ! penis carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:888
name: fasciolopsiasis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Fasciolopsiasis.htm "DO"]
synonym: "fasciolopsiases" EXACT []
synonym: "infection by Fasciolopsis buski" EXACT []
synonym: "infectious disease by Fasciolopsis" EXACT []
synonym: "Trematode Infection" BROAD []
synonym: "Trematode Infections" BROAD []
xref: ICD10CM:B66.5
xref: ICD9CM:121.4
xref: MESH:D014201
xref: NCI:C128388
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:9004459 ! Trematode Infections

[Term]
id: DOID:8881
name: rosacea
def: "A cutaneous disorder primarily of convexities of the central part of the FACE, such as FOREHEAD; CHEEK; NOSE; and CHIN. It is characterized by FLUSHING; ERYTHEMA; EDEMA; RHINOPHYMA; papules; and ocular symptoms. It may occur at any age but typically after age 30. There are various subtypes of rosacea: erythematotelangiectatic, papulopustular, phymatous, and ocular (National Rosacea Society's Expert Committee on the Classification and Staging of Rosacea, J Am Acad Dermatol 2002; 46:584-7)." [MESH:D012393]
synonym: "acne erythematosa" EXACT []
synonym: "Acne Rosacea" EXACT []
synonym: "acne roscea" EXACT []
synonym: "Erythematotelangiectatic Rosacea" EXACT []
synonym: "Granulomatous Rosacea" EXACT []
synonym: "Ocular Rosacea" EXACT []
synonym: "Papulopustular Rosacea" EXACT []
synonym: "Phymatous Rosacea" EXACT []
xref: EFO:1000760
xref: ICD10CM:L71
xref: ICD10CM:L71.9
xref: ICD9CM:695.3
xref: MESH:D012393
xref: NCI:C97136
is_a: DOID:37 ! skin disease

[Term]
id: DOID:8883
name: lower lip cancer
xref: ICD10CM:C00.1
xref: ICD9CM:140.1
is_a: DOID:8564 ! lip cancer
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:8886
name: chorioretinitis
def: "Inflammation of the choroid in which the sensory retina becomes edematous and opaque. The inflammatory cells and exudate may burst through the sensory retina to cloud the vitreous body." [MESH:D002825]
synonym: "Chorioretinitides" EXACT []
synonym: "Choroidoretinitis" EXACT []
synonym: "Retinochoroiditis" EXACT []
xref: GARD:6060
xref: ICD9CM:363.20
xref: MESH:D002825
xref: NCI:C110923
is_a: DOID:11406 ! choroiditis
is_a: DOID:3612 ! retinitis

[Term]
id: DOID:8892
name: pityriasis rosea
def: "A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. (DO)" [https://www.mayoclinic.org/diseases-conditions/pityriasis-rosea/symptoms-causes/syc-20376405 "DO"]
synonym: "pityriasis circinata" EXACT []
xref: EFO:1000756
xref: ICD10CM:L42
xref: ICD9CM:696.3
xref: MESH:D017515
xref: NCI:C26855
is_a: DOID:2723 ! dermatitis
is_a: DOID:9007287 ! Pityriasis

[Term]
id: DOID:8893
name: psoriasis
def: "A skin disease that is characterized by patches of thick red skin and silvery scales. (DO)" [https://www.cdc.gov/psoriasis/index.htm "DO"]
synonym: "palmoplantaris pustulosis" EXACT []
synonym: "PALMOPLANTAR PUSTULOSIS" EXACT []
synonym: "Psoriases" EXACT []
synonym: "PSORIASIS, PROTECTION AGAINST" RELATED []
synonym: "pustular psoriasis 2" EXACT []
synonym: "pustular psoriasis of palms and soles" EXACT []
synonym: "pustulosis of palms and soles" EXACT []
synonym: "pustulosis palmaris et plantaris" EXACT []
xref: EFO:0000676
xref: GARD:10262
xref: ICD10CM:L40
xref: MESH:D011565
xref: MIM:PS177900
xref: NCI:C3346
is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue
is_a: DOID:9008246 ! Papulosquamous Skin Diseases

[Term]
id: DOID:890
name: mitochondrial encephalomyopathy
def: "A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)" [MESH:D017237]
synonym: "ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL" NARROW []
synonym: "mitochondrial encephalomyopathies" EXACT []
xref: MESH:D017237
xref: RDO:0003323
is_a: DOID:699 ! mitochondrial myopathy
is_a: DOID:9005627 ! Metabolic Brain Diseases

[Term]
id: DOID:891
name: progressive myoclonus epilepsy
alt_id: MIM:310370
def: "A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death. (DO)" [http://pn.bmj.com/content/15/3/164.long "DO"]
synonym: "atypical inclusion body disease" EXACT []
synonym: "atypical inclusion-body diseases" EXACT []
synonym: "Biotin-Responsive Encephalopathies" EXACT []
synonym: "Biotin Responsive Encephalopathy" EXACT []
synonym: "Familial Progressive Myoclonic Epilepsy" EXACT []
synonym: "May White syndrome" EXACT []
synonym: "neuronal ceroid-lipofuscinosis, dominant/recessive" NARROW []
synonym: "neuronal ceroid-lipofuscinosis, recessive" NARROW []
synonym: "NOD" EXACT []
synonym: "PME" EXACT []
synonym: "progressive myoclonic epilepsies" EXACT []
synonym: "progressive myoclonic epilepsy" EXACT []
synonym: "progressive myoclonic epilepsy, X-linked" NARROW []
synonym: "progressive myoclonus epilepsies" EXACT []
xref: EFO:0020039
xref: GARD:7140
xref: MESH:D020191
xref: MIM:PS254800
xref: NCI:C7636
is_a: DOID:0050706 ! variable age at onset electroclinical syndrome
is_a: DOID:9005154 ! Myoclonic Epilepsies

[Term]
id: DOID:8912
name: tinea nigra
def: "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. (DO)" [http://www.mycology.adelaide.edu.au/Mycoses/Superficial/Tinea_nigra/index.html "DO"]
synonym: "infection by cladosporium werneckii" EXACT []
synonym: "keratomycosis nigricans" EXACT []
synonym: "microsporosis nigra" RELATED []
synonym: "tinea palmaris nigra" EXACT []
xref: ICD10CM:B36.1
xref: ICD9CM:111.1
xref: MESH:C000656904
is_a: DOID:0050133 ! superficial mycosis

[Term]
id: DOID:8913
name: dermatophytosis
def: "A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. (DO)" [http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/index.html "DO"]
synonym: "dermatophytoses" EXACT []
synonym: "Epidermophytoses" EXACT []
synonym: "Epidermophytosis" EXACT []
synonym: "Ringworm" EXACT []
synonym: "tinea" EXACT []
synonym: "Tineas" EXACT []
synonym: "Trichophytoses" EXACT []
synonym: "trichophytosis" EXACT []
xref: EFO:0007510
xref: ICD10CM:B35
xref: ICD9CM:110
xref: MESH:D014005
xref: NCI:C26745
is_a: DOID:0050134 ! cutaneous mycosis
is_a: DOID:1563 ! dermatomycosis

[Term]
id: DOID:8920
name: leukoplakia of vagina
def: "A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin. (DO)" [https://en.wikipedia.org/wiki/Leukoplakia "DO"]
synonym: "vaginal leukoplakia" EXACT []
xref: ICD10CM:N89.4
xref: ICD9CM:623.1
xref: NCI:C3663
is_a: DOID:121 ! vaginal disease

[Term]
id: DOID:8923
name: skin melanoma
def: "A skin cancer that has_material_basis_in melanocytes. (DO)" [http://cancergenome.nih.gov/cancersselected/melanoma "DO", http://en.wikipedia.org/wiki/Melanoma "DO", http://www.cancer.gov/dictionary?CdrID=45135 "DO"]
synonym: "cutaneous malignant melanoma" EXACT []
synonym: "cutaneous melanoma" EXACT []
synonym: "hereditary dysplastic nevus syndrome" EXACT []
synonym: "malignant ear melanoma" EXACT []
synonym: "malignant lip melanoma" EXACT []
synonym: "malignant lower limb melanoma" EXACT []
synonym: "malignant melanoma of ear and/or external auricular canal" EXACT []
synonym: "malignant melanoma of skin" EXACT []
synonym: "malignant melanoma of skin of lower limb" NARROW []
synonym: "malignant melanoma of skin of trunk except scrotum" NARROW []
synonym: "malignant melanoma of skin of upper limb" NARROW []
synonym: "malignant neck melanoma" EXACT []
synonym: "malignant scalp melanoma" EXACT []
synonym: "malignant trunk melanoma" EXACT []
synonym: "malignant upper limb melanoma" NARROW []
xref: EFO:0000389
xref: ICD10CM:C43.9
xref: ICD9CM:172.9
xref: NCI:C3510
is_a: DOID:1909 ! melanoma
is_a: DOID:4159 ! skin cancer

[Term]
id: DOID:8924
name: autoimmune thrombocytopenic purpura
alt_id: MIM:188030
def: "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. (DO)" [https://rarediseases.org/rare-diseases/immune-thrombocytopenia/ "DO"]
synonym: "AITP" EXACT []
synonym: "Autoimmune Thrombocytopenia" EXACT []
synonym: "autoimmune thrombocytopenias" EXACT []
synonym: "autoimmune thrombocytopenic purpuras" EXACT []
synonym: "chronic idiopathic thrombocytopenic purpura" NARROW []
synonym: "ideopath thrombocytopenic pur" RELATED []
synonym: "idiopathic purpura" RELATED []
synonym: "idiopathic thrombocytopenic purpura" EXACT []
synonym: "Idiopathic Thrombocytopenic Purpuras" EXACT []
synonym: "Immune Thrombocytopenia" EXACT []
synonym: "Immune Thrombocytopenias" EXACT []
synonym: "Immune Thrombocytopenic Purpura" EXACT []
synonym: "immune thrombocytopenic purpuras" EXACT []
synonym: "ITP" EXACT []
synonym: "primary thrombocytopenic purpura" EXACT []
synonym: "Werlhof's disease" EXACT []
synonym: "Werlhof disease" EXACT []
synonym: "Werlhofs disease" EXACT []
xref: EFO:0007160
xref: ICD10CM:D69.3
xref: ICD9CM:287.31
xref: MESH:D016553
xref: NCI:C3446
xref: ORDO:3002
is_a: DOID:8925 ! primary thrombocytopenia
is_a: DOID:9005876 ! Thrombocytopenic Purpura

[Term]
id: DOID:8925
name: primary thrombocytopenia
xref: ICD9CM:287.39
xref: RDO:9003715
is_a: DOID:0060050 ! autoimmune disease of blood
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:8927
name: learning disability
def: "A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. (DO)" [http://en.wikipedia.org/wiki/Learning_disability "DO", http://www.ldonline.org/ldbasics/whatisld "DO"]
synonym: "academic skill disorder" EXACT []
synonym: "adult learning disorder" EXACT []
synonym: "adult learning disorders" EXACT []
synonym: "Developmental Academic Disorder" EXACT []
synonym: "Developmental Academic Disorders" EXACT []
synonym: "Developmental Disorders of Scholastic Skills" EXACT []
synonym: "Learning Disabilities" EXACT []
synonym: "Learning Disorder" EXACT []
synonym: "Learning Disorders" EXACT []
synonym: "Learning Disturbance" EXACT []
synonym: "Learning Disturbances" EXACT []
synonym: "scholastic skills development disorders" EXACT []
synonym: "specific learning disability" NARROW []
xref: ICD10CM:F81.9
xref: MESH:D007859
xref: NCI:C89334
is_a: DOID:0060038 ! specific developmental disorder
is_a: DOID:2033 ! communication disorder
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:8929
name: atrophic gastritis
def: "GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis." [MESH:D005757]
synonym: "atrophic gastritides" EXACT []
synonym: "gastric atrophy" EXACT []
xref: EFO:1000826
xref: ICD10CM:K29.4
xref: ICD9CM:535.1
xref: MESH:D005757
xref: NCI:C7405
is_a: DOID:4029 ! gastritis

[Term]
id: DOID:893
name: Wilson disease
alt_id: MIM:277900
alt_id: OMIA:001071
alt_id: OMIA:001988
def: "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32279718/ "DO", https://www.genome.gov/Genetic-Disorders/Wilson-Disease "DO"]
synonym: "cerebral pseudoscleroses" EXACT []
synonym: "cerebral pseudosclerosis" EXACT []
synonym: "copper storage disease" EXACT []
synonym: "hepatic form of Wilson disease" EXACT []
synonym: "Hepatocerebral Degeneration" EXACT []
synonym: "hepatocerebral degenerations" EXACT []
synonym: "hepatolenticular degeneration" EXACT []
synonym: "Hepatolenticular Degeneration Syndrome" EXACT []
synonym: "Hepato Neurologic Wilson Disease" EXACT []
synonym: "hepato-neurologic Wilson diseases" EXACT []
synonym: "Kinnier Wilson Disease" EXACT []
synonym: "Kinnier-Wilson Diseases" EXACT []
synonym: "Neurohepatic Degeneration" EXACT []
synonym: "neurohepatic degenerations" EXACT []
synonym: "progressive lenticular degeneration" EXACT []
synonym: "pseudosclerosis" EXACT []
synonym: "WD" EXACT []
synonym: "Westphal pseudosclerosis" EXACT []
synonym: "Westphal Strumpell syndrome" EXACT []
synonym: "Wilson's disease" EXACT []
synonym: "Wilson disease, COMMD1 type" NARROW []
synonym: "Wilson disease, hepatic form" NARROW []
synonym: "Wilsons disease" EXACT []
synonym: "WND" EXACT []
xref: GARD:7893
xref: ICD10CM:E83.01
xref: MESH:D006527
xref: NCI:C84756
is_a: DOID:409 ! liver disease
is_a: DOID:480 ! movement disease
is_a: DOID:679 ! basal ganglia disease
is_a: DOID:896 ! metal metabolism disorder
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn

[Term]
id: DOID:8930
name: retromolar area cancer
synonym: "malignant tumor of retromolar area" EXACT [SNOMEDCT_2005_07_31:363391009]
xref: ICD10CM:C06.2
xref: ICD9CM:145.6
is_a: DOID:8618 ! oral cavity cancer

[Term]
id: DOID:8931
name: Evans' syndrome
synonym: "Autoimmune hemolytic anemia and autoimmune thrombocytopenia" EXACT []
xref: GARD:6389
xref: ICD10CM:D69.41
xref: ICD9CM:287.32
xref: MESH:C536380
xref: NCI:C61284
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:225 ! syndrome
is_a: DOID:718 ! autoimmune hemolytic anemia
is_a: DOID:8925 ! primary thrombocytopenia

[Term]
id: DOID:8936
name: plantar fascial fibromatosis
def: "A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture. (DO)" [https://en.wikipedia.org/wiki/Plantar_fibromatosis "DO"]
synonym: "Dupuytren's contracture of foot" EXACT []
synonym: "Ledderhose's Disease" EXACT []
synonym: "Ledderhose Disease" EXACT []
synonym: "plantar fibromatosis" EXACT []
xref: EFO:1000481
xref: ICD10CM:M72.2
xref: ICD9CM:728.71
xref: MESH:D000071380
xref: NCI:C4680
is_a: DOID:0050871 ! fibroma
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007310 ! Foot Diseases

[Term]
id: DOID:8937
name: Waldeyer's ring cancer
synonym: "malignant neoplasm of Waldeyer's ring" EXACT []
synonym: "malignant tumor of Waldeyer's ring" EXACT []
synonym: "Waldeyer ring cancer" EXACT []
xref: ICD10CM:C14.2
xref: ICD9CM:149.1
is_a: DOID:0060073 ! lymphatic system cancer
is_a: DOID:8557 ! oropharynx cancer

[Term]
id: DOID:8941
name: seborrheic infantile dermatitis
def: "A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp. (DO)" [http://en.wikipedia.org/wiki/Cradle_cap "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm "DO"]
synonym: "complement 5 dysfunction" EXACT []
synonym: "cradle cap" EXACT []
synonym: "generalized seborrheic dermatitis of infants" EXACT []
synonym: "infantile seborrhoeic dermatitis" EXACT []
synonym: "pityriasis capitis" EXACT []
synonym: "seborrhea capitis" EXACT []
synonym: "seborrhea sicca" EXACT []
synonym: "seborrhoea capitis" EXACT []
synonym: "seborrhoeic dermatitis of scalp" EXACT []
synonym: "seborrhoeic eczema of scalp" EXACT []
xref: EFO:1000765
xref: ICD10CM:L21.0
xref: ICD9CM:690.11
is_a: DOID:8741 ! seborrheic dermatitis

[Term]
id: DOID:8943
name: lattice corneal dystrophy
def: "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface. (DO)" [https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm "DO", https://www.omim.org/entry/122200 "DO"]
synonym: "familial amyloid neuropathy, Finnish type" RELATED []
synonym: "LCD" EXACT []
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy
is_a: DOID:9001512 ! Familial Amyloid Polyneuropathies

[Term]
id: DOID:8946
name: severe nonproliferative diabetic retinopathy
synonym: "High risk non proliferative diabetic retinopathy" EXACT [SNOMEDCT_2005_07_31:390720006]
synonym: "Severe NPDR" EXACT [SNOMEDCT_2005_07_31:312905005]
xref: ICD9CM:362.06
xref: RDO:9002151
is_a: DOID:13208 ! background diabetic retinopathy
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:8947
name: diabetic retinopathy
def: "Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." [MESH:D003930]
synonym: "diabetic eye disease" BROAD []
synonym: "diabetic retinopathies" EXACT []
synonym: "retinal abnormality - diabetes-related" EXACT []
xref: EFO:0003770
xref: EFO:0009486
xref: ICD9CM:362.0
xref: MESH:D003930
xref: NCI:C34538
is_a: DOID:11713 ! diabetic angiopathy
is_a: DOID:2462 ! retinal vascular disease

[Term]
id: DOID:8955
name: sideroblastic anemia
def: "A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). (DO)" [http://en.wikipedia.org/wiki/Sideroblastic_anemia "DO"]
synonym: "hypochromic anemia with iron loading" EXACT []
synonym: "RARS" NARROW []
synonym: "RARS-T" NARROW []
synonym: "refractory anaemia with ringed sideroblasts" NARROW []
synonym: "refractory anaemia with sideroblasts" NARROW []
synonym: "refractory anemia with ring sideroblasts and thrombocytosis" NARROW []
synonym: "SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC" NARROW []
synonym: "sideroblastic anemias" EXACT []
xref: EFO:0003812
xref: GARD:667
xref: ICD10CM:D64.3
xref: ICD9CM:285.0
xref: MESH:D000756
xref: MIM:PS300751
xref: NCI:C36078
is_a: DOID:11252 ! microcytic anemia
is_a: DOID:12449 ! aplastic anemia
is_a: DOID:9000300 ! Refractory Anemia

[Term]
id: DOID:8956
name: cowpox
def: "A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face. (DO)" [https://www.nejm.org/doi/10.1056/NEJMicm1702548?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dwww.ncbi.nlm.nih.gov "DO"]
synonym: "cow pox" EXACT []
synonym: "yaba" EXACT []
xref: EFO:0007225
xref: ICD10CM:B08.010
xref: ICD9CM:051.01
xref: MESH:D015605
is_a: DOID:8729 ! milker's nodule

[Term]
id: DOID:896
name: metal metabolism disorder
def: "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. (DO)" [http://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism "DO"]
synonym: "inborn metal metabolism disorder" EXACT [CSP2005:4000-0215]
synonym: "Metal Metabolism, Inborn Error" EXACT []
synonym: "Metal Metabolism, Inborn Errors" EXACT []
xref: MESH:D008664
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:8969
name: tonsillar fossa cancer
synonym: "malignant neoplasm of tonsillar fossa" EXACT []
synonym: "malignant tumor of tonsillar fossa" EXACT []
xref: ICD10CM:C09.0
xref: ICD9CM:146.1
is_a: DOID:8557 ! oropharynx cancer
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:8970
name: subacute sclerosing panencephalitis
alt_id: MIM:260470
def: "A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant. (DO)" [http://en.wikipedia.org/wiki/Subacute_sclerosing_panencephalitis "DO"]
synonym: "immunosuppressive measles encephalitis" EXACT []
synonym: "inclusion body encephalitis, measles" EXACT []
synonym: "SSPE" EXACT []
synonym: "subacute sclerosing leukoencephalitides" EXACT []
synonym: "subacute sclerosing leukoencephalitis" EXACT []
synonym: "subacute sclerosing leukoencephalopathy" EXACT []
synonym: "subacute sclerosing panencephalitides" EXACT []
synonym: "Van Bogaert's leukoencephalitis" EXACT []
synonym: "Van Bogaert's sclerosing leukoencephalitis" EXACT []
synonym: "Van Bogaert leukoencephalitis" EXACT []
synonym: "Van Bogaerts leukoencephalitis" EXACT []
xref: EFO:0007502
xref: GARD:7708
xref: ICD10CM:A81.1
xref: ICD9CM:046.2
xref: MESH:D013344
xref: NCI:C85171
is_a: DOID:646 ! viral encephalitis
is_a: DOID:8622 ! measles
is_a: DOID:9004448 ! Slow Virus Diseases
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:898
name: autosomal dominant polycystic kidney disease
def: "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. (DO)" [https://en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4 "DO", https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease "DO", https://www.genome.gov/Genetic-Disorders/Autosomal-Polycystic-Kidney-Disease "DO"]
synonym: "ADPKD" EXACT []
synonym: "adult polycystic kidney disease" EXACT []
synonym: "congenital biliary ectasias" EXACT []
synonym: "POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1" EXACT []
xref: EFO:1001496
xref: GARD:10413
xref: ICD10CM:Q61.3
xref: ICD9CM:753.12
xref: MESH:D016891
xref: NCI:C84578
xref: ORDO:730
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:0080322 ! polycystic kidney disease

[Term]
id: DOID:8986
name: narcolepsy
alt_id: MIM:605841
alt_id: MIM:609039
alt_id: MIM:612417
alt_id: MIM:612851
alt_id: MIM:614223
alt_id: OMIA:000703
def: "A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. (DO)" [http://en.wikipedia.org/wiki/Narcolepsy "DO"]
synonym: "Gelineau's Syndrome" EXACT []
synonym: "Gelineau's syndromes" EXACT []
synonym: "Gelineaus Syndrome" EXACT []
synonym: "Gelineau Syndrome" EXACT []
synonym: "NARCOLEPSY 2, SUSCEPTIBILITY TO" NARROW []
synonym: "NARCOLEPSY 3" NARROW []
synonym: "NARCOLEPSY 4, SUSCEPTIBILITY TO" RELATED []
synonym: "NARCOLEPSY 5, SUSCEPTIBILITY TO" RELATED []
synonym: "NARCOLEPSY 6, SUSCEPTIBILITY TO" RELATED []
synonym: "Narcolepsy, without cataplexy" NARROW []
synonym: "Narcoleptic Syndrome" EXACT []
synonym: "Narcoleptic Syndromes" EXACT []
synonym: "NRCLP2" NARROW []
synonym: "NRCLP3" NARROW []
synonym: "NRCLP4" NARROW []
synonym: "NRCLP5" NARROW []
synonym: "NRCLP6" NARROW []
synonym: "paroxysmal sleep" EXACT []
xref: EFO:0005855
xref: GARD:7162
xref: ICD10CM:G47.41
xref: ICD9CM:347.0
xref: MESH:D009290
xref: MIM:PS161400
xref: NCI:C84489
xref: ORDO:2073
is_a: DOID:8619 ! recurrent hypersomnia

[Term]
id: DOID:899
name: choledochal cyst
alt_id: MIM:603003
def: "A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35212316/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK557762/ "DO"]
synonym: "Bile Duct Cyst" EXACT []
synonym: "bile duct cysts" EXACT []
synonym: "biliary cyst" EXACT []
synonym: "Choledochal Cysts" EXACT []
synonym: "Choledochal Cyst, Type I" EXACT []
synonym: "Choledochal Cyst, Type II" EXACT []
synonym: "Choledochal Cyst, Type III" EXACT []
synonym: "Choledochal Cyst, Type IV" EXACT []
synonym: "Choledochal Cyst, Type V" EXACT []
synonym: "Choledochal Diverticulum" EXACT []
synonym: "Choledochal Diverticulums" EXACT []
synonym: "Choledochocele" EXACT []
synonym: "Choledochoceles" EXACT []
synonym: "Common Bile Duct Cyst" EXACT []
synonym: "Congenital Choledochal Cyst" EXACT []
synonym: "Congenital Choledochal Cysts" EXACT []
synonym: "Cysts, Common Bile Duct" EXACT []
synonym: "Diverticulum Choledochal Cyst" EXACT []
synonym: "Diverticulum Choledochal Cysts" EXACT []
synonym: "Intrahepatic Choledochal Cyst" EXACT []
synonym: "Intrahepatic Choledochal Cysts" EXACT []
synonym: "Multiple Choledochal Cyst" EXACT []
synonym: "multiple choledochal cysts" EXACT []
xref: GARD:9229
xref: ICD10CM:Q44.4
xref: MESH:D015529
xref: NCI:C2943
xref: ORDO:480501
is_a: DOID:4138 ! bile duct disease
is_a: DOID:9001683 ! Digestive System Abnormalities
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:8991
name: cervix uteri carcinoma in situ
def: "An uterus carcinoma in situ that is located_in the uterine cervix. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1503328/ "DO"]
synonym: "carcinoma in situ of cervix" EXACT []
synonym: "carcinoma in situ of uterine cervix" EXACT []
synonym: "carcinoma of cervix stage 0" EXACT []
synonym: "cervical intraepithelial neoplasia" EXACT []
synonym: "Cervical Intraepithelial Neoplasia, Grade III" EXACT []
synonym: "cervical intraepithelial neoplasia grade III with severe dysplasia" EXACT []
synonym: "Cervical Intraepithelial Neoplasm" EXACT []
synonym: "Cervical Intraepithelial Neoplasms" EXACT []
synonym: "cervix Ca in situ" EXACT []
synonym: "CIN III" EXACT []
synonym: "CIN III - carcinoma in situ of cervix" EXACT []
synonym: "CIN III - severe dyskaryosis" EXACT []
synonym: "severe dysplasia of cervix" EXACT []
synonym: "severe dysplasia of the cervix uteri" EXACT []
synonym: "squamous intraepithelial neoplasia, grade III" EXACT []
xref: ICD10CM:D06
xref: ICD9CM:233.1
xref: MESH:D002578
xref: NCI:C3782
xref: NCI:C4000
is_a: DOID:9003373 ! Uterine Cervical Neoplasms
is_a: DOID:9108 ! uterus carcinoma in situ

[Term]
id: DOID:8997
name: polycythemia vera
alt_id: DOID:11868
alt_id: MIM:263300
def: "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly. (DO)" [https://en.wikipedia.org/wiki/Polycythemia_vera "DO", https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera "DO", https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/symptoms-causes/syc-20355850 "DO"]
synonym: "chronic erythremia" EXACT []
synonym: "erythremia" EXACT []
synonym: "erythremias" EXACT []
synonym: "HEMOGLOBIN VILLEJUIF" RELATED []
synonym: "Osler-Vaquez disease" EXACT []
synonym: "Osler-Vaquez syndrome" EXACT []
synonym: "polycythaemia rubra vera" EXACT []
synonym: "polycythemia ruba vera" EXACT []
synonym: "polycythemia ruba veras" EXACT []
synonym: "polycythemia rubra vera" EXACT []
synonym: "polycythemia rubra veras" EXACT []
synonym: "proliferative polycythaemia" EXACT []
synonym: "PRV" EXACT []
synonym: "PV" EXACT []
xref: EFO:0002429
xref: GARD:7422
xref: ICD10CM:D45
xref: ICD9CM:207.1
xref: ICD9CM:238.4
xref: ICDO:9950/3
xref: MESH:D011087
xref: NCI:C3336
is_a: DOID:10780 ! primary polycythemia
is_a: DOID:1240 ! leukemia
is_a: DOID:2226 ! myeloproliferative neoplasm

[Term]
id: DOID:90
name: degenerative disc disease
def: "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. (DO)" [http://en.wikipedia.org/wiki/Degenerative_disc_disease "DO", http://www.cedars-sinai.edu/Patients/Health-Conditions/Degenerative-Disc-Disease.aspx "DO"]
synonym: "cervical disc degenerative disease" NARROW []
synonym: "Degenerative Intervertebral Disc" EXACT []
synonym: "degenerative intervertebral discs" EXACT []
synonym: "Degenerative Intervertebral Disk" EXACT []
synonym: "degenerative intervertebral disks" EXACT []
synonym: "Disc Degeneration" EXACT []
synonym: "Disc Degenerations" EXACT []
synonym: "Disc Degradation" EXACT []
synonym: "Disc Degradations" EXACT []
synonym: "Disk Degeneration" EXACT []
synonym: "Disk Degenerations" EXACT []
synonym: "Disk Degradation" EXACT []
synonym: "Disk Degradations" EXACT []
synonym: "Intervertebral Disc Degeneration" EXACT []
synonym: "Intervertebral Disc Degenerations" EXACT []
synonym: "intervertebral disc degradation" EXACT []
synonym: "intervertebral disk degeneration" EXACT []
synonym: "intervertebral disk degenerations" EXACT []
synonym: "lumbar disc degeneration" NARROW []
synonym: "vertebral disc disease" EXACT []
xref: EFO:0004994
xref: EFO:0009537
xref: MESH:D055959
xref: NCI:C27156
is_a: DOID:0080007 ! bone deterioration disease

[Term]
id: DOID:900
name: hepatopulmonary syndrome
def: "A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)." [MESH:D020065]
synonym: "Hepato Pulmonary Syndrome" EXACT []
synonym: "Hepato-Pulmonary Syndromes" EXACT []
synonym: "Hepatopulmonary Syndromes" EXACT []
xref: EFO:1001346
xref: ICD10CM:K76.81
xref: ICD9CM:573.5
xref: MESH:D020065
is_a: DOID:225 ! syndrome
is_a: DOID:409 ! liver disease
is_a: DOID:850 ! lung disease

[Term]
id: DOID:9000002
name: Leukemia L1210
def: "An experimental LYMPHOCYTIC LEUKEMIA of mice." [MESH:D007939]
synonym: "Leukemia L 1210" EXACT []
xref: MESH:D007939
is_a: DOID:9004441 ! Experimental Leukemia

[Term]
id: DOID:9000004
name: Optic Atrophy with Demyelinating Disease of CNS
xref: MESH:C563496
xref: RDO:0012738
is_a: DOID:9005850 ! Hereditary Optic Atrophies
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases

[Term]
id: DOID:9000006
name: Supraventricular Tachycardia
def: "A generic expression for any tachycardia that originates above the BUNDLE OF HIS." [MESH:D013617]
synonym: "Supraventricular Tachycardias" EXACT []
xref: MESH:D013617
is_a: DOID:9002554 ! Tachycardia

[Term]
id: DOID:9000009
name: Chromosome 1, Monosomy 1p32
synonym: "Deletion 1p32" EXACT []
synonym: "Monosomy 1p32" EXACT []
xref: MESH:C535594
xref: RDO:0000812
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9000011
name: Gallbladder Neoplasms
def: "Tumors or cancer of the gallbladder." [MESH:D005706]
synonym: "gallbladder neoplasm" EXACT []
synonym: "tumor of the gallbladder" EXACT []
xref: EFO:0004606
xref: MESH:D005706
is_a: DOID:0060262 ! gallbladder disease
is_a: DOID:9006796 ! Gastrointestinal Neoplasms

[Term]
id: DOID:9000012
name: Fracture Dislocation
def: "Fracture of a bone near an articulation with concomitant dislocation of that joint." [MESH:D000072039]
synonym: "Dislocation Fractures" EXACT []
synonym: "Fracture Dislocations" EXACT []
xref: MESH:D000072039
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9003279 ! Joint Dislocations

[Term]
id: DOID:9000016
name: Peritoneal Carcinomatosis
def: "This neoplastic disease most often develops when other abdominal epithelial tumors spread to the peritoneum, leading to multiple new tumors on the surface of this membrane. Peritoneal carcinomatosis generally means that abdominal cancer is in an advanced stage. There are also very rare cases of primary peritoneal carcinomatosis, which begins in the peritoneum itself." [https://www.webmd.com, ISBN-13:978-0781733908]
synonym: "Carcinomatosis of peritoneum" EXACT []
xref: PMID:28439450
is_a: DOID:1791 ! peritoneal carcinoma
created_by: slaulede
creation_date: 2020-12-21T18:13:26Z

[Term]
id: DOID:9000017
name: Devriendt syndrome
alt_id: MIM:610136
xref: MESH:C535947
xref: RDO:0001326
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000018
name: Coronary Vessel Anomalies
def: "Malformations of CORONARY VESSELS, either arteries or veins. Included are anomalous origins of coronary arteries; ARTERIOVENOUS FISTULA; CORONARY ANEURYSM; MYOCARDIAL BRIDGING; and others." [MESH:D003330]
synonym: "Coronary Vessel Anomaly" EXACT []
xref: MESH:D003330
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9000019
name: Attention Deficit-Hyperactivity Disorder 8
synonym: "ADHD8" EXACT []
xref: MIM:619957
is_a: DOID:1094 ! attention deficit hyperactivity disorder
created_by: mtutaj
creation_date: 2022-07-18T11:35:37Z

[Term]
id: DOID:9000020
name: Fabry Disease, Cardiac Variant
def: "A form of Fabry Disease characterized by LEFT VENTRICULAR HYPERTROPHY that occurs in the sixth decade of life. It is associated with specific mutations, including Q279E and R301Q, in the GLA (ALPHA-GALACTOSIDASE) gene. OMIM: 300644.0008" [MESH:C567062]
xref: MESH:C567062
is_a: DOID:14499 ! Fabry disease
is_a: DOID:9004616 ! Left Ventricular Hypertrophy

[Term]
id: DOID:9000021
name: Familial Plantar Fibromatosis
alt_id: RDO:0013822
synonym: "Ledderhose disease" RELATED []
synonym: "Plantar fibromas" EXACT []
xref: MESH:C565084
is_a: DOID:0050871 ! fibroma
is_a: DOID:9007310 ! Foot Diseases

[Term]
id: DOID:9000022
name: Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals
alt_id: MIM:609655
xref: MESH:C536894
is_a: DOID:2703 ! synovitis
is_a: DOID:9006081 ! Osteolysis

[Term]
id: DOID:9000023
name: Camurati Engelmann Disease, Type 2
alt_id: MIM:606631
alt_id: RDO:0003906
alt_id: RDO:0013562
synonym: "Camurati-Engelmann Disease, Type II" EXACT []
synonym: "Progressive diaphyseal dysplasia with striations of the bones" EXACT []
xref: MESH:C537978
xref: MESH:C564689
is_a: DOID:4997 ! Camurati-Engelmann disease

[Term]
id: DOID:9000024
name: Norwalk Virus Infections
synonym: "Norwalk virus infection, resistance to" RELATED []
synonym: "SECRETOR/NONSECRETOR POLYMORPHISM" RELATED []
is_a: DOID:9006923 ! Caliciviridae Infections

[Term]
id: DOID:9000025
name: Central Nervous System Infections
def: "Pathogenic infections of the brain, spinal cord, and meninges. DNA VIRUS INFECTIONS; RNA VIRUS INFECTIONS; BACTERIAL INFECTIONS; MYCOPLASMA INFECTIONS; SPIROCHAETALES INFECTIONS; fungal infections; PROTOZOAN INFECTIONS; HELMINTHIASIS; and PRION DISEASES may involve the central nervous system as a primary or secondary process." []
synonym: "Central Nervous System Infection" EXACT []
xref: EFO:1001456
xref: MESH:D002494
is_a: DOID:331 ! central nervous system disease
is_a: DOID:9004384 ! Bacterial Infections and Mycoses

[Term]
id: DOID:9000027
name: Microsatellite Instability
def: "The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR." [MESH:D053842]
synonym: "Replication Error Phenotype" EXACT []
synonym: "Replication Error Phenotypes" EXACT []
xref: MESH:D053842
xref: RDO:0007641
is_a: DOID:9002981 ! Genomic Instability

[Term]
id: DOID:9000028
name: Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
alt_id: MIM:251240
xref: MESH:C565381
is_a: DOID:10907 ! microcephaly
is_a: DOID:2583 ! agammaglobulinemia
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9000029
name: Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation
alt_id: MIM:204850
synonym: "amyloidosis of gingiva and conjunctiva with impaired intellectual development" EXACT []
xref: MESH:C565958
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1483 ! gingival disease
is_a: DOID:4251 ! conjunctival disease
is_a: DOID:9004492 ! Familial Amyloidosis

[Term]
id: DOID:9000030
name: Radial Ray Hypoplasia Choanal Atresia
alt_id: MIM:179270
synonym: "Radial Ray Hypoplasia with Choanal Atresia" EXACT []
xref: MESH:C536263
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9574 ! choanal atresia

[Term]
id: DOID:9000032
name: Graham-Boyle-Troxell Syndrome
synonym: "Cystic hamartoma of lung and kidney" EXACT []
synonym: "Cystic hamartomata of lung and kidney" EXACT []
xref: GARD:2557
xref: MESH:C537292
xref: MONDO:0023275
xref: ORDO:2111
is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome
is_a: DOID:9002265 ! Kidney Neoplasms
is_a: DOID:9005172 ! Lung Neoplasms

[Term]
id: DOID:9000033
name: Sakoda Complex
alt_id: MIM:610871
synonym: "Sakoda Spectrum" EXACT []
synonym: "Sphenoethmoidal Encephalomeningocele, Agenesis of the Corpus Callosum, and Cleft Lip-Palate" EXACT []
xref: MESH:C567055
is_a: DOID:1088 ! meningocele
is_a: DOID:674 ! cleft palate
is_a: DOID:9000983 ! Encephalocele
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9000034
name: Chromosome 10q Duplication Syndrome
synonym: "10q duplication syndrome" EXACT []
synonym: "10q Partial trisomy" EXACT []
synonym: "Trisomy 10q" EXACT []
xref: MESH:C537804
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9000035
name: Primary Effusion Lymphoma
def: "A rare neoplasm of large B-cells usually presenting as serious effusions without detectable tumor masses. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. It is associated with HUMAN HERPESVIRUS 8, most often occurring in the setting of immunodeficiency." [MESH:D054685]
synonym: "Primary Effusion Lymphomas" EXACT []
xref: EFO:1000491
xref: MESH:D054685
xref: NCI:C6915
is_a: DOID:707 ! B-cell lymphoma

[Term]
id: DOID:9000036
name: Cornual Pregnancy
def: "A type of pregnancy in which the EMBRYO IMPLANTATION occurs in the horn of the UTERUS instead of in the uterine cavity, i.e. at the junction of the uterus and one of the FALLOPIAN TUBES." [MESH:D065173]
synonym: "Cornual Pregnancies" EXACT []
xref: MESH:D065173
is_a: DOID:0060329 ! ectopic pregnancy

[Term]
id: DOID:9000037
name: Lymphatic Malformation 10
def: "An autosomal dominant disorder characterized by onset of lymphedema within the first year of life, primarily involving the lower extremities although it also may appear in the neck, upper extremities, and scrotum or labia majora. Caused by heterozygous mutation in the ANGPT2 gene on chromosome 8p23. (OMIM)" []
synonym: "LMPHM10" EXACT []
xref: MIM:619369
is_a: DOID:0050580 ! hereditary lymphedema
created_by: mtutaj
creation_date: 2021-06-04T11:50:05Z

[Term]
id: DOID:9000038
name: Urban Schosser Spohn Syndrome
alt_id: MIM:158310
synonym: "Hereditary mucoepithelial dysplasia" EXACT []
synonym: "HMD" EXACT []
xref: MESH:C536476
is_a: DOID:161 ! keratosis
is_a: DOID:225 ! syndrome
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9000039
name: Spinal Cord Injuries
def: "Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.)." [MESH:D013119]
synonym: "acute spinal cord injury" NARROW []
synonym: "Post-Traumatic Myelopathies" EXACT []
synonym: "Post Traumatic Myelopathy" EXACT []
synonym: "Spinal Cord Contusion" EXACT []
synonym: "Spinal Cord Contusions" EXACT []
synonym: "Spinal Cord Injury" EXACT []
synonym: "Spinal Cord Laceration" EXACT []
synonym: "Spinal Cord Lacerations" EXACT []
synonym: "Spinal Cord Transection" EXACT []
synonym: "Spinal Cord Transections" EXACT []
synonym: "Spinal Cord Trauma" EXACT []
synonym: "Spinal Cord Traumas" EXACT []
synonym: "Traumatic Myelopathies" EXACT []
synonym: "Traumatic Myelopathy" EXACT []
xref: EFO:1001919
xref: MESH:D013119
xref: RDO:0006597
is_a: DOID:319 ! spinal cord disease
is_a: DOID:9001600 ! Wounds and Injuries
is_a: DOID:9006062 ! Nervous System Trauma

[Term]
id: DOID:9000040
name: Hypertrophy
def: "General increase in bulk of a part or organ due to CELL ENLARGEMENT and accumulation of FLUIDS AND SECRETIONS, not due to tumor formation, nor to an increase in the number of cells (HYPERPLASIA)." [MESH:D006984]
synonym: "Hypertrophies" EXACT []
xref: EFO:0002460
xref: MESH:D006984
xref: RDO:0001544
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9000041
name: Fetal Weight
def: "The weight of the FETUS in utero. It is usually estimated by various formulas based on measurements made during PRENATAL ULTRASONOGRAPHY." [MESH:D020567]
synonym: "Fetal Body Weight" EXACT []
synonym: "Fetal Body Weights" EXACT []
synonym: "Fetal Weights" EXACT []
xref: MESH:D020567
xref: RDO:0007421
is_a: DOID:9007633 ! Body Weight

[Term]
id: DOID:9000043
name: Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas
alt_id: MIM:600419
xref: MESH:C563940
is_a: DOID:14499 ! Fabry disease
is_a: DOID:9005605 ! Arteriovenous Fistula

[Term]
id: DOID:9000044
name: Al Gazali Hirschsprung Syndrome
alt_id: MIM:235760
synonym: "Al Gazali Donnai Mueller syndrome" EXACT []
synonym: "Hirschsprung's disease, hypoplastic nails, and dysmorphic facial features" EXACT []
synonym: "Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features" EXACT []
synonym: "Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features" EXACT []
xref: MESH:C535615
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:225 ! syndrome
is_a: DOID:4123 ! nail disease
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9000045
name: De Hauwere syndrome
alt_id: MIM:109120
synonym: "Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities" EXACT []
synonym: "Iris Dysplasia with Ocular Hypertelorism, Psychomotor Retardation, and Sensorineural Deafness" EXACT []
xref: MESH:C566234
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9005077 ! Joint Instability
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9000046
name: Poisoning
def: "A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent." [MESH:D011041]
synonym: "Benzene toxicity, susceptibility to" RELATED []
synonym: "Poisonings" EXACT []
xref: EFO:0008546
xref: MESH:D011041
is_a: DOID:9008261 ! Chemically-Induced Disorders

[Term]
id: DOID:9000047
name: Dystonia with Ringbinden
alt_id: MIM:224550
xref: MESH:C565608
is_a: DOID:543 ! dystonia
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:9000048
name: Thymic Epithelial Tumor
synonym: "Epithelial tumor of thymus" EXACT []
synonym: "Thymoma, adult" EXACT []
xref: MESH:C536905
is_a: DOID:9005161 ! Thymus Neoplasms
is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms

[Term]
id: DOID:9000049
name: Deoxyribose-5-Phosphate Aldolase Deficiency
alt_id: MIM:125460
xref: MESH:C565112
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9000050
name: Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency
alt_id: MIM:602199
synonym: "MCKAT deficiency" EXACT []
xref: MESH:C566566
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9000051
name: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
def: "This disease is an autosomal recessive disorder characterized by multiple congenital anomalies and early neonatal death." [MIM:619859]
synonym: "PAICSD" EXACT []
xref: MIM:619859
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2022-07-07T10:30:35Z

[Term]
id: DOID:9000052
name: Breech Presentation
def: "A malpresentation of the FETUS at near term or during OBSTETRIC LABOR with the fetal cephalic pole in the fundus of the UTERUS. There are three types of breech: the complete breech with flexed hips and knees; the incomplete breech with one or both hips partially or fully extended; the frank breech with flexed hips and extended knees." [MESH:D001946]
synonym: "Breech Fetal Presentation" EXACT []
synonym: "Breech Labor Presentation" EXACT []
synonym: "Complete Breech" EXACT []
synonym: "Frank Breech Presentation" EXACT []
synonym: "Incomplete Breech" EXACT []
xref: MESH:D001946
xref: RDO:0005062
is_a: DOID:9000610 ! Obstetric Labor Complications

[Term]
id: DOID:9000053
name: Headache
def: "The symptom of PAIN in the cranial region. It may be an isolated benign occurrence or manifestation of a wide variety of HEADACHE DISORDERS." [MESH:D006261]
synonym: "Bilateral Headache" EXACT []
synonym: "Bilateral Headaches" EXACT []
synonym: "Cephalalgia" EXACT []
synonym: "Cephalalgias" EXACT []
synonym: "Cephalgia" EXACT []
synonym: "Cephalgias" EXACT []
synonym: "Cephalodynia" EXACT []
synonym: "Cephalodynias" EXACT []
synonym: "Cranial Pain" EXACT []
synonym: "Cranial Pains" EXACT []
synonym: "Generalized Headache" EXACT []
synonym: "Generalized Headaches" EXACT []
synonym: "Headaches" EXACT []
synonym: "Head Pain" EXACT []
synonym: "Head Pains" EXACT []
synonym: "Hemicrania" EXACT []
synonym: "Ocular Headache" EXACT []
synonym: "Ocular Headaches" EXACT []
synonym: "Orthostatic Headache" EXACT []
synonym: "Orthostatic Headaches" EXACT []
synonym: "Periorbital Headache" EXACT []
synonym: "Periorbital Headaches" EXACT []
synonym: "Retro Ocular Headache" EXACT []
synonym: "Retro-Ocular Headaches" EXACT []
synonym: "Sharp Headache" EXACT []
synonym: "Sharp Headaches" EXACT []
synonym: "Throbbing Headache" EXACT []
synonym: "Throbbing Headaches" EXACT []
synonym: "Unilateral Headache" EXACT []
synonym: "Unilateral Headaches" EXACT []
synonym: "Vertex Headache" EXACT []
synonym: "Vertex Headaches" EXACT []
xref: MESH:D006261
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9000054
name: Drug-Induced Akathisia
def: "A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move." [MESH:D017109]
synonym: "Drug-Induced Acathisia" EXACT []
synonym: "Pseudoakathisia" EXACT []
synonym: "Tardive Akathisia" EXACT []
xref: EFO:1000903
xref: MESH:D017109
is_a: DOID:3602 ! toxic encephalopathy
is_a: DOID:480 ! movement disease
is_a: DOID:9001366 ! Psychomotor Agitation
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions

[Term]
id: DOID:9000055
name: Myelolipoma
def: "A rare benign tumor of the adrenal gland, several centimeters in diameter, composed in varying proportions of adipose tissue, lymphocytes, and primitive myeloid cells, probably a developmental abnormality. (Dorland, 27th ed)" [MESH:D018209]
synonym: "Myelolipomas" EXACT []
xref: EFO:1000074
xref: MESH:D018209
is_a: DOID:9008378 ! Adipose Tissue Neoplasms

[Term]
id: DOID:9000056
name: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
alt_id: MIM:260570
synonym: "CEBPE-RELATED CONDITION" BROAD []
synonym: "IMD108" EXACT []
synonym: "immunodeficiency-108 with autoinflammation" EXACT []
synonym: "Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain" EXACT []
xref: MESH:C564899
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9000972 ! Fever
is_a: DOID:9005734 ! Abdominal Pain
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9000057
name: Pseudohypoaldosteronism Type IB2, Autosomal Recessive
def: "A pseudohypoaldosteronism characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. Caused by homozygous mutation in the beta subunit of the epithelial sodium channel (ENaC), SCNN1B, on chromosome 16p12." [MIM:620125]
synonym: "PHA1B2" EXACT []
xref: MIM:620125
is_a: DOID:0060854 ! autosomal recessive pseudohypoaldosteronism type 1
created_by: mtutaj
creation_date: 2022-12-05T08:43:34Z

[Term]
id: DOID:9000058
name: Keloid
alt_id: MIM:148100
def: "A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar (CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues." [MESH:D007627]
synonym: "keloid formation" RELATED []
synonym: "Keloids" EXACT []
synonym: "KLDF" EXACT []
xref: EFO:0004212
xref: MESH:D007627
is_a: DOID:854 ! collagen disease
is_a: DOID:9004739 ! Cicatrix

[Term]
id: DOID:9000059
name: Long QT Syndrome 2/5
alt_id: RDO:0015022
synonym: "LONG QT SYNDROME 2/5, DIGENIC" EXACT []
synonym: "LQT2/5, DIGENIC" EXACT []
xref: MESH:C566765
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:9000060
name: Cardiac Conduction Defect, Nonspecific
alt_id: RDO:0015606
xref: MESH:C567557
is_a: DOID:9001836 ! Cardiac Conduction Defect

[Term]
id: DOID:9000061
name: Cote Katsantoni Syndrome
xref: MESH:C536449
xref: RDO:0002043
is_a: DOID:225 ! syndrome
is_a: DOID:2339 ! Crouzon syndrome
is_a: DOID:9000123 ! Deglutition Disorders
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9000062
name: Retinal Hemorrhage
def: "Bleeding from the vessels of the retina." [MESH:D012166]
synonym: "Retinal Hemorrhages" EXACT []
xref: MESH:D012166
is_a: DOID:5679 ! retinal disease
is_a: DOID:9004938 ! Eye Hemorrhage

[Term]
id: DOID:9000063
name: Primary Granulocytic Sarcoma
xref: EFO:1000286
xref: MESH:C536413
is_a: DOID:8683 ! myeloid sarcoma

[Term]
id: DOID:9000064
name: Cardiac Arrhythmias
alt_id: MIM:115000
def: "Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." [MESH:D001145]
synonym: "Arrhythmia" EXACT []
synonym: "Arrythmia" EXACT []
synonym: "Cardiac Arrhythmia" EXACT []
synonym: "Cardiac Dysrhythmia" EXACT []
synonym: "RYR2-RELATED CONDITION" BROAD []
synonym: "VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME" NARROW []
xref: EFO:0004269
xref: MESH:D001145
is_a: DOID:114 ! heart disease
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9000065
name: Myopia 25, Autosomal Dominant
synonym: "myopia-25" RELATED []
synonym: "MYP25" RELATED []
xref: MIM:617238
xref: RDO:9001499
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9000066
name: Jaw Abnormalities
def: "Congenital absence of or defects in structures of the jaw." [MESH:D007569]
synonym: "Jaw Abnormality" EXACT []
xref: MESH:D007569
is_a: DOID:9003876 ! Jaw Diseases
is_a: DOID:9004563 ! Maxillofacial Abnormalities

[Term]
id: DOID:9000067
name: Congenital Foot Deformities
def: "Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth." [MESH:D005532]
synonym: "congenital foot deformity" EXACT []
xref: MESH:D005532
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9003938 ! Foot Deformities
is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital

[Term]
id: DOID:9000068
name: X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy
alt_id: MIM:300232
synonym: "leukoencephalopathy with metaphyseal chondrodysplasia" EXACT []
synonym: "LKMCD" EXACT []
synonym: "SEMDHL" EXACT []
synonym: "X-linked SEMD with mental deterioration" EXACT []
synonym: "X-linked spondyloepimetaphyseal dysplasia with mental deterioration" EXACT []
xref: MESH:C567065
is_a: DOID:0112150 ! X-linked spondyloepimetaphyseal dysplasia
is_a: DOID:9002704 ! Leukoencephalopathies

[Term]
id: DOID:9000069
name: Prostatic Stromal Proliferation of Uncertain Malignant Potential
xref: MESH:C537245
is_a: DOID:11132 ! prostatic hypertrophy

[Term]
id: DOID:9000070
name: Progressive Renal Failure with Hypertension
alt_id: MIM:161900
alt_id: RDO:0012415
synonym: "AORF" EXACT []
synonym: "Nephritis, Familial, without Deafness or Ocular Defect" EXACT []
synonym: "Nephropathy, Familial" EXACT []
synonym: "Renal Failure, Adult-Onset" EXACT []
synonym: "RFH1" EXACT []
xref: MESH:C562889
is_a: DOID:9003234 ! Hypertensive Nephropathy

[Term]
id: DOID:9000071
name: Signs and Symptoms
def: "Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient." [MESH:D012816]
xref: EFO:0003765
xref: MESH:D012816
is_a: DOID:9000298 ! Pathological Conditions, Signs and Symptoms

[Term]
id: DOID:9000073
name: Metaphyseal Chondrodysplasia
is_a: DOID:2256 ! osteochondrodysplasia
creation_date: 2018-02-15T00:00:00Z

[Term]
id: DOID:9000074
name: Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
alt_id: MIM:602556
xref: MESH:C566524
is_a: DOID:674 ! cleft palate
is_a: DOID:9003113 ! Hearing Loss, Mixed Conductive-Sensorineural
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000075
name: Pancreatic Lipomatosis Duodenal Stenosis
synonym: "Pancreatic lipomatosis and duodenal atresia" EXACT []
xref: MESH:C535839
xref: RDO:0001169
is_a: DOID:26 ! pancreas disease
is_a: DOID:3153 ! lipomatosis
is_a: DOID:3558 ! duodenal obstruction

[Term]
id: DOID:9000076
name: Closed Fractures
def: "Fractures in which the break in bone is not accompanied by an external wound." [MESH:D005596]
synonym: "Closed Fracture" EXACT []
synonym: "Occult Fracture" EXACT []
synonym: "Occult Fractures" EXACT []
xref: MESH:D005596
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9000077
name: GOMBO Syndrome
alt_id: MIM:233270
synonym: "Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia" EXACT []
xref: MESH:C537284
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:10629 ! microphthalmia
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9003483 ! Conductive Hearing Loss
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9000078
name: Black Hairy Tongue
synonym: "Black tongue" EXACT []
synonym: "Lingua Nigra" EXACT []
synonym: "Lingua Villosa Nigra" EXACT []
xref: MESH:C538420
is_a: DOID:13500 ! hairy tongue

[Term]
id: DOID:9000079
name: Ancylostoma Duodenale Infection
xref: MESH:C538433
is_a: DOID:12841 ! ancylostomiasis

[Term]
id: DOID:9000080
name: Choroid Plexus Neoplasms
def: "Benign or malignant tumors which arise from the choroid plexus of the ventricles of the brain. Papillomas (see PAPILLOMA, CHOROID PLEXUS) and carcinomas are the most common histologic subtypes, and tend to seed throughout the ventricular and subarachnoid spaces. Clinical features include headaches, ataxia and alterations of consciousness, primarily resulting from associated HYDROCEPHALUS. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072; J Neurosurg 1998 Mar;88(3):521-8)" [MESH:D016545]
synonym: "choroid plexus neoplasm" EXACT []
synonym: "Choroid Plexus Tumor" EXACT []
synonym: "Choroid Plexus Tumors" EXACT []
synonym: "primary choroid plexus neoplasms" EXACT []
xref: MESH:D016545
is_a: DOID:9002898 ! Cerebral Ventricle Neoplasms

[Term]
id: DOID:9000081
name: Lymphatic Metastasis
def: "Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system." [MESH:D008207]
synonym: "Lymphatic Metastases" EXACT []
synonym: "lymph node metastatic carcinoma" NARROW []
xref: EFO:0004906
xref: EFO:1001364
xref: MESH:D008207
xref: RDO:0006041
is_a: DOID:75 ! lymphatic system disease
is_a: DOID:9000965 ! Neoplasm Metastasis

[Term]
id: DOID:9000083
name: Foot Deformities, Acquired
def: "Distortion or disfigurement of the foot, or a part of the foot, acquired through disease or injury after birth." [MESH:D005531]
synonym: "Acquired Foot Deformity" EXACT []
xref: MESH:D005531
xref: RDO:0005519
is_a: DOID:9003938 ! Foot Deformities

[Term]
id: DOID:9000084
name: Childhood-Onset Neurodegeneration with Cerebellar Atrophy
synonym: "CONDCA" EXACT []
xref: EFO:0010256
xref: MIM:618276
is_a: DOID:1289 ! neurodegenerative disease
created_by: mtutaj
creation_date: 2019-04-30T00:00:00Z

[Term]
id: DOID:9000085
name: Book Syndrome
alt_id: MIM:112300
synonym: "PHC Syndrome" EXACT []
xref: MESH:C562993
is_a: DOID:225 ! syndrome
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9004062 ! Hyperhidrosis
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9000086
name: Rhiny
alt_id: MIM:180360
xref: MESH:C566708
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9000087
name: Catastrophic Illness
def: "An acute or prolonged illness usually considered to be life-threatening or with the threat of serious residual disability. Treatment may be radical and is frequently costly." [MESH:D002388]
synonym: "Catastrophic Illnesses" EXACT []
xref: MESH:D002388
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9000090
name: Chromosome 3, Trisomy 3q
synonym: "Duplication 3q" EXACT []
synonym: "Trisomy 3q" EXACT []
xref: MESH:C536813
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9000092
name: Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male
alt_id: MIM:300233
xref: MESH:C564557
is_a: DOID:9827 ! radioulnar synostosis

[Term]
id: DOID:9000093
name: Arakawa Syndrome 2
synonym: "Arakawa's syndrome 2" EXACT []
synonym: "Arakawa's syndrome II" EXACT []
synonym: "Methionine synthase deficiency" EXACT []
synonym: "N5-methylhomocysteine transferase deficiency" EXACT []
synonym: "Tetrahydrofolate-methyltransferase deficiency syndrome" EXACT []
xref: MESH:C537426
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9000094
name: Pterygium Of Conjunctiva And Cornea
alt_id: MIM:178000
xref: MESH:C566740
xref: RDO:0015009
is_a: DOID:0002116 ! pterygium

[Term]
id: DOID:9000096
name: Lung Agenesis
alt_id: MIM:265430
synonym: "congenital lung agenesis" EXACT []
synonym: "experimental pulmonary hypoplasia" NARROW []
synonym: "primary pulmonary hypoplasia" EXACT []
synonym: "Pulmonary agenesis" EXACT []
synonym: "pulmonary hypoplasia" EXACT []
synonym: "Unilateral lobar pulmonary agenesis" EXACT []
synonym: "unilateral lung agenesis" EXACT []
xref: MESH:C562992
is_a: DOID:850 ! lung disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000097
name: Skin/Hair/Eye Pigmentation, Variation In, 10
alt_id: MIM:612267
synonym: "SHEP10" EXACT []
synonym: "Skin-Hair-Eye Pigmentation 10, Blond-Brown Hair" EXACT []
xref: MESH:C567376
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9000098
name: Mucus Inspissation of Respiratory Tract
alt_id: MIM:253240
xref: MESH:C565366
is_a: DOID:3083 ! chronic obstructive pulmonary disease

[Term]
id: DOID:9000099
name: Experimental Colitis
def: "Colitis induced experimentally in laboratory animals by administration of various agents such as dextran sulfate sodium (DSS), 2,4,6-trinitrobenzene sulfonic acid (TNBS), or acetic acid. Experimental colitis can also be induced by a procedure like colon diversion or radiation treatment." [PMID:20877947, PMID:30878575, PMID:32036253]
is_a: DOID:0060180 ! colitis
is_a: DOID:9006205 ! Animal Disease Models

[Term]
id: DOID:9000100
name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA
def: "This disease is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia." [MIM:619651]
synonym: "NEDHYD" EXACT []
xref: MIM:619651
is_a: DOID:9002362 ! Hyperkinesis
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2022-02-10T18:08:28Z

[Term]
id: DOID:9000101
name: Rectovaginal Fistula
def: "An abnormal anatomical passage between the RECTUM and the VAGINA." [MESH:D012006]
synonym: "Rectovaginal Fistulas" EXACT []
xref: MESH:D012006
is_a: DOID:0060328 ! anal fistula
is_a: DOID:9002824 ! Vaginal Fistula

[Term]
id: DOID:9000103
name: Aprosencephaly and Cerebellar Dysgenesis
alt_id: MIM:601374
xref: MESH:C563331
is_a: DOID:0060668 ! anencephaly

[Term]
id: DOID:9000104
name: Glomerular Diseases
def: "A set of diseases affecting the glomeruli of the nephron, that may or may not be inflammatory." []
synonym: "Glomerulopathy" EXACT []
xref: EFO:1002049
xref: RDO:9000066
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9000105
name: Glaucoma with Elevated Episcleral Venous Pressure
alt_id: MIM:137700
xref: MESH:C564235
is_a: DOID:1067 ! open-angle glaucoma

[Term]
id: DOID:9000106
name: Oculomotor Nerve Injuries
def: "Traumatic injuries to the OCULOMOTOR NERVE. This may result in various eye movement dysfunction." [MESH:D061220]
synonym: "Cranial Nerve III Injury" EXACT []
synonym: "Oculomotor Nerve Avulsion" EXACT []
synonym: "Oculomotor Nerve Avulsions" EXACT []
synonym: "Oculomotor Nerve Contusion" EXACT []
synonym: "Oculomotor Nerve Contusions" EXACT []
synonym: "Oculomotor Nerve Injury" EXACT []
synonym: "Oculomotor Nerve Transection" EXACT []
synonym: "Oculomotor Nerve Transections" EXACT []
synonym: "Oculomotor Nerve Trauma" EXACT []
synonym: "Oculomotor Nerve Traumas" EXACT []
synonym: "Third Cranial Nerve Injuries" EXACT []
synonym: "Third Cranial Nerve Injury" EXACT []
synonym: "Third Nerve Trauma" EXACT []
synonym: "Third-Nerve Traumas" EXACT []
synonym: "Traumatic Oculomotor Neuropathies" EXACT []
synonym: "Traumatic Oculomotor Neuropathy" EXACT []
synonym: "Traumatic Third-Nerve Palsies" EXACT []
synonym: "Traumatic Third Nerve Palsy" EXACT []
xref: MESH:D061220
is_a: DOID:562 ! third cranial nerve disease
is_a: DOID:9000598 ! Cranial Nerve Injuries

[Term]
id: DOID:9000107
name: Hall Riggs Mental Retardation Syndrome
alt_id: MIM:234250
xref: MESH:C535623
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000108
name: Dermochondrocorneal Dystrophy of François
alt_id: MIM:221800
synonym: "Dermochondrocorneal dystrophy" EXACT []
synonym: "Francois syndrome" EXACT []
xref: MESH:C535375
is_a: DOID:206 ! hereditary multiple exostoses
is_a: DOID:2566 ! corneal dystrophy

[Term]
id: DOID:9000109
name: Haemophilus Infections
def: "Infections with bacteria of the genus HAEMOPHILUS." [MESH:D006192]
synonym: "Haemophilus Infection" EXACT []
synonym: "Hemophilus Infection" EXACT []
synonym: "Hemophilus Infections" EXACT []
synonym: "primary Haemophilus infectious disease" EXACT []
xref: EFO:1001127
xref: MESH:D006192
xref: RDO:0001648
is_a: DOID:9008746 ! Pasteurellaceae Infections

[Term]
id: DOID:9000110
name: Congenital Chylous Ascites
alt_id: MIM:208300
xref: MESH:C531654
is_a: DOID:9005107 ! Chylous Ascites

[Term]
id: DOID:9000111
name: Radiation Injuries
def: "Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES." [MESH:D011832]
synonym: "Radiation-induced nausea and vomiting" EXACT []
synonym: "Radiation Injury" EXACT []
synonym: "Radiation Sickness" EXACT []
synonym: "Radiation Sicknesses" EXACT []
synonym: "Radiation Syndrome" EXACT []
synonym: "Radiation Syndromes" EXACT []
xref: EFO:0006912
xref: EFO:0009566
xref: MESH:D011832
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9000112
name: Alopecia Contractures Dwarfism Mental Retardation
alt_id: MIM:203550
synonym: "ACD Mental Retardation Syndrome" EXACT []
synonym: "Alopecia-contractures-dwarfism mental retardation syndrome" EXACT []
xref: MESH:C537051
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9000113
name: Pneumococcal Meningitis
def: "An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" [MESH:D008586]
synonym: "Experimental Pneumococcal Meningitides" EXACT []
synonym: "Experimental Pneumococcal Meningitis" EXACT []
synonym: "Meningitis, Pneumococcal, Penicillin-Resistant" EXACT []
synonym: "Pneumococcal Meningitides" EXACT []
synonym: "recurrent pneumococcal meningitis" EXACT []
synonym: "Streptococcus pneumoniae Meningitides" EXACT []
synonym: "streptococcus pneumoniae meningitis" EXACT []
xref: EFO:1001114
xref: MESH:D008586
is_a: DOID:9000989 ! Pneumococcal Infections
is_a: DOID:9470 ! bacterial meningitis

[Term]
id: DOID:9000114
name: Bone Anteversion
def: "Malalignment of a bone in which its head and neck is rotated excessively forward or inward." [MESH:D060750]
synonym: "Bone Antetorsion" EXACT []
synonym: "Bone Antetorsions" EXACT []
synonym: "Bone Anteversions" EXACT []
xref: EFO:1001274
xref: MESH:D060750
is_a: DOID:9000314 ! Torsion Abnormality
is_a: DOID:9001456 ! Bone Malalignment

[Term]
id: DOID:9000115
name: Posthemorrhagic Hydrocephalus
def: "Posthemorrhagic Hydrocephalus is an abnormal expansion of cavities (ventricles) within the brain that is caused by the accumulation of cerebrospinal fluid, secondary to hemorrhage into the ventricles or the subarachnoid space." []
synonym: "PHH" EXACT []
xref: RDO:9000079
is_a: DOID:10908 ! hydrocephalus

[Term]
id: DOID:9000116
name: Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss
alt_id: MIM:609466
synonym: "Unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss" EXACT []
xref: MESH:C536427
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:674 ! cleft palate
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000117
name: Esophageal Neoplasms
def: "Tumors or cancer of the ESOPHAGUS." [MESH:D004938]
synonym: "Esophageal Neoplasm" EXACT []
synonym: "Esophagus Neoplasm" EXACT []
synonym: "Esophagus Neoplasms" EXACT []
xref: MESH:D004938
is_a: DOID:6050 ! esophageal disease
is_a: DOID:9006169 ! Head and Neck Neoplasms
is_a: DOID:9006796 ! Gastrointestinal Neoplasms

[Term]
id: DOID:9000118
name: Paranasal Sinus Neoplasms
def: "Tumors or cancer of the PARANASAL SINUSES." [MESH:D010255]
synonym: "neoplasm of accessory sinus" EXACT []
synonym: "paranasal sinus neoplasms" EXACT []
synonym: "tumor of accessory sinus" EXACT []
xref: MESH:D010255
xref: NCI:C7488
is_a: DOID:1352 ! paranasal sinus disease
is_a: DOID:9007971 ! Nose Neoplasms
created_by: mtutaj
creation_date: 2020-04-21T07:38:16Z

[Term]
id: DOID:9000119
name: Left-Sided Gallbladder
alt_id: RDO:0002739
xref: MESH:C537001
is_a: DOID:0060262 ! gallbladder disease

[Term]
id: DOID:9000120
name: Deafness Hyperuricemia Neurologic Ataxia
xref: MESH:C535995
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9000121
name: Malocclusion
alt_id: MIM:154300
def: "Such malposition and contact of the maxillary and mandibular teeth as to interfere with the highest efficiency during the excursive movements of the jaw that are essential for mastication. (Jablonski, Illustrated Dictionary of Dentistry, 1982)" [MESH:D008310]
synonym: "Angle's Classification" EXACT []
synonym: "Angle Classification" EXACT []
synonym: "Angles Classification" EXACT []
synonym: "Cross Bite" EXACT []
synonym: "Crossbite" EXACT []
synonym: "Cross Bites" EXACT []
synonym: "Crossbites" EXACT []
synonym: "Crowdings, Tooth" EXACT []
synonym: "Malocclusions" EXACT []
synonym: "Tooth Crowding" EXACT []
xref: MESH:D008310
is_a: DOID:1091 ! tooth disease

[Term]
id: DOID:9000122
name: Pulmonary Surfactant Metabolism Dysfunction 3
alt_id: MIM:610921
synonym: "congenital pulmonary alveolar proteinosis 3" EXACT []
synonym: "Interstitial Lung Disease Due To ABCA3 Deficiency" EXACT []
synonym: "PRIMARY INTERSTITIAL LUNG DISEASE SPECIFIC TO CHILDHOOD DUE TO PULMONARY SURFACTANT PROTEIN ANOMALIES" EXACT []
synonym: "SMDP3" EXACT []
xref: MESH:C567046
xref: NCI:C99070
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:9006807 ! Congenital Pulmonary Alveolar Proteinosis

[Term]
id: DOID:9000123
name: Deglutition Disorders
def: "Difficulty in SWALLOWING which may result from neuromuscular disorder or mechanical obstruction. Dysphagia is classified into two distinct types: oropharyngeal dysphagia due to malfunction of the PHARYNX and UPPER ESOPHAGEAL SPHINCTER; and esophageal dysphagia due to malfunction of the ESOPHAGUS." [MESH:D003680]
synonym: "Deglutition Disorder" EXACT []
synonym: "Dysphagia" EXACT []
synonym: "Esophageal Dysphagia" EXACT []
synonym: "Oropharyngeal Dysphagia" EXACT []
synonym: "Swallowing Disorder" EXACT []
synonym: "Swallowing Disorders" EXACT []
xref: MESH:D003680
is_a: DOID:6050 ! esophageal disease
is_a: DOID:9004130 ! Pharyngeal Diseases

[Term]
id: DOID:9000124
name: Perrault Syndrome 5
synonym: "PRLTS5" EXACT []
xref: MIM:616138
is_a: DOID:0050857 ! Perrault syndrome

[Term]
id: DOID:9000125
name: Orofacial Granulomatosis
def: "A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease." [MESH:D051261]
synonym: "Orofacial Granulomatoses" EXACT []
xref: EFO:1001820
xref: MESH:D051261
is_a: DOID:403 ! mouth disease
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9000127
name: Knobloch Syndrome Type II
alt_id: MIM:618458
synonym: "KNO2" EXACT []
synonym: "Knobloch Syndrome 2" EXACT []
xref: MESH:C548030
is_a: DOID:9002033 ! Knobloch Syndrome

[Term]
id: DOID:9000128
name: Galactorrhea-Hyperprolactinemia
synonym: "Galactorrhoea-Hyperprolactinaemia" EXACT []
xref: GARD:8400
xref: MESH:C535402
is_a: DOID:12700 ! hyperprolactinemia
is_a: DOID:9002090 ! Galactorrhea

[Term]
id: DOID:9000129
name: Pelvic Infection
def: "Infection involving the tissues or organs in the PELVIS." [MESH:D034161]
synonym: "Pelvic Infections" EXACT []
xref: MESH:D034161
is_a: DOID:0050117 ! disease by infectious agent
is_a: DOID:9009146 ! Urogenital Diseases

[Term]
id: DOID:9000131
name: Emerging Communicable Diseases
def: "Infectious diseases that are novel in their outbreak ranges (geographic and host) or transmission mode." [MESH:D021821]
synonym: "Emerging Communicable Disease" EXACT []
synonym: "Emerging Infectious Disease" EXACT []
synonym: "Emerging Infectious Diseases" EXACT []
synonym: "Re-Emerging Communicable Disease" EXACT []
synonym: "Reemerging Communicable Disease" EXACT []
synonym: "Re-Emerging Communicable Diseases" EXACT []
synonym: "Reemerging Communicable Diseases" EXACT []
synonym: "Re-Emerging Infectious Disease" EXACT []
synonym: "Reemerging Infectious Disease" EXACT []
synonym: "Re-Emerging Infectious Diseases" EXACT []
synonym: "Reemerging Infectious Diseases" EXACT []
xref: MESH:D021821
is_a: DOID:0050117 ! disease by infectious agent

[Term]
id: DOID:9000132
name: Ayazi Syndrome
synonym: "choroideremia deafness obesity" EXACT []
synonym: "choroideremia, obesity, and congenital deafness" EXACT []
synonym: "choroideremia with deafness and obesity" EXACT []
xref: MESH:C537793
is_a: DOID:225 ! syndrome
is_a: DOID:9008681 ! Deafness
is_a: DOID:9821 ! Choroideremia
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9000133
name: Sneezing
def: "The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT." [MESH:D012912]
synonym: "Sneezings" EXACT []
xref: EFO:0004290
xref: MESH:D012912
is_a: DOID:9000575 ! Respiratory Signs and Symptoms

[Term]
id: DOID:9000134
name: Chromosome 10, Monosomy 10q
synonym: "Deletion 10q" EXACT []
synonym: "Monosomy 10q" EXACT []
synonym: "Terminal deletion of chromosome 10q" EXACT []
xref: MESH:C538289
xref: RDO:0004251
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9000136
name: Osteoma of Middle Ear
alt_id: MIM:259650
xref: MESH:C564917
is_a: DOID:9004412 ! Osteoma

[Term]
id: DOID:9000137
name: Corneal Dystrophy, Fuchs' Endothelial, 1
alt_id: MIM:136800
synonym: "Corneal Dystrophy, Fuchs Endothelial 1" EXACT []
synonym: "Corneal Dystrophy, Fuchs Endothelial, Early-Onset" EXACT []
synonym: "Dystrophia epithelialis corneae" EXACT []
synonym: "FECD1" EXACT []
synonym: "Fuchs' dystrophy" EXACT []
xref: MESH:C535478
is_a: DOID:11555 ! Fuchs' endothelial dystrophy

[Term]
id: DOID:9000138
name: Whyte Murphy Syndrome
synonym: "Osteopathia striata associated with familial dermopathy and white forelock" EXACT []
xref: MESH:C536054
is_a: DOID:0080001 ! bone disease
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:225 ! syndrome
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:9000139
name: Superior Vena Cava Syndrome
def: "A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms." [MESH:D013479]
synonym: "superior vena cava obstruction" EXACT []
synonym: "superior vena cava thrombosis" EXACT []
xref: EFO:1001855
xref: MESH:D013479
is_a: DOID:178 ! vascular disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9000140
name: Supraglottitis
def: "Inflammation of the EPIGLOTTIS and supraglottic structures including the PHARYNX; UVULA; base of tongue; and aryepiglottic folds. It is usually caused by HAEMOPHILUS INFLUENZAE in children but often by different organisms in adults." [MESH:D059525]
synonym: "Supraglottitides" EXACT []
xref: MESH:D059525
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:9000141
name: Autosomal Dominant Intellectual Developmental Disorder 58
synonym: "Autosomal Dominant Mental Retardation 58" EXACT []
synonym: "MRD58" EXACT []
xref: MIM:618106
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: slaulede
creation_date: 2018-10-11T11:54:35Z

[Term]
id: DOID:9000142
name: Dental Calculus
def: "Abnormal concretion or calcified deposit that forms around the teeth or dental prostheses." [MESH:D003728]
synonym: "Tartar" EXACT []
xref: MESH:D003728
is_a: DOID:9005602 ! Calculi
is_a: DOID:9007861 ! Dental Deposits

[Term]
id: DOID:9000143
name: Deafness, Progressive High-Tone Neural
xref: MESH:C562423
is_a: DOID:10003 ! sensorineural hearing loss

[Term]
id: DOID:9000144
name: Chronic Disease
def: "Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed)" [MESH:D002908]
synonym: "Chronically Ill" EXACT []
synonym: "Chronic Diseases" EXACT []
synonym: "Chronic Illness" EXACT []
synonym: "Chronic Illnesses" EXACT []
xref: EFO:0009714
xref: MESH:D002908
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9000145
name: IGF1R-RELATED DISORDER
alt_id: MIM:270450
alt_id: RDO:0013649
synonym: "IGF1R-RELATED CONDITION" EXACT []
synonym: "IGF-I Resistance" EXACT []
synonym: "IGF-I RESISTANCE  INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN" RELATED []
synonym: "INSULIN-LIKE GROWTH FACTOR 1 RESISTANCE TO" RELATED []
synonym: "INSULIN-LIKE GROWTH FACTOR I RESISTANCE" EXACT []
synonym: "Insulin-Like Growth Factor I, Resistance To" RELATED []
synonym: "Somatomedin C, Resistance To" EXACT []
synonym: "Somatomedin, End-Organ Insensitivity To" EXACT []
xref: MESH:C564816
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000146
name: Plaque, Atherosclerotic
def: "Lesions formed within the walls of ARTERIES." [MESH:D058226]
synonym: "Arterial Fatty Streak" EXACT []
synonym: "Arterial Fatty Streaks" EXACT []
synonym: "Atheroma" EXACT []
synonym: "Atheromas" EXACT []
synonym: "Atheromatous Plaques" EXACT []
synonym: "Atherosclerotic Plaques" EXACT []
synonym: "Fibroatheroma" EXACT []
synonym: "Fibroatheromas" EXACT []
synonym: "Fibroatheromatous Plaque" EXACT []
synonym: "Fibroatheromatous Plaques" EXACT []
xref: MESH:D058226
xref: RDO:0007814
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9000147
name: Acute Febrile Encephalopathy
def: "Acute onset of fever accompanied by seizures, cerebral inflammation and a change in mental status (e.g., confusion, disorientation, and coma)." [MESH:D000071072]
synonym: "Acute Encephalitis Syndrome" EXACT []
synonym: "Acute Encephalitis Syndromes" EXACT []
synonym: "Acute Febrile Encephalopathies" EXACT []
synonym: "Febrile Encephalopathies" EXACT []
synonym: "Febrile Encephalopathy" EXACT []
xref: MESH:D000071072
xref: RDO:0016074
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9000148
name: Familial Hypersecretion of Adrenal Androgens
alt_id: MIM:145295
xref: MESH:C536845
is_a: DOID:3947 ! adrenal gland hyperfunction

[Term]
id: DOID:9000149
name: Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive
def: "A disease characterized by severe palmoplantar keratoderma, mild generalized ichthyosis, and progressive sensorineural deafness. Caused by homozygous or compound heterozygous mutation in the VPS33B gene on chromosome 15q26." [MIM:620009]
synonym: "KDIDAR" EXACT []
xref: MIM:620009
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1697 ! ichthyosis
is_a: DOID:3390 ! palmoplantar keratosis
created_by: mtutaj
creation_date: 2022-08-22T09:36:45Z

[Term]
id: DOID:9000150
name: Glycogen Storage Disease IIIA
alt_id: OMIA:001577
synonym: "GSD IIIA" EXACT []
xref: MESH:C566889
is_a: DOID:2748 ! glycogen storage disease III

[Term]
id: DOID:9000151
name: Parietal Foramina 3
alt_id: MIM:609566
synonym: "PFM3" EXACT []
xref: MESH:C563697
is_a: DOID:0060285 ! parietal foramina

[Term]
id: DOID:9000152
name: Braddock-Carey Syndrome 2
def: "Characterized by congenital thrombocytopenia, microcephaly, and facial dysmorphisms including Pierre-Robin sequence. Caused by homozygous mutation in the KIF15 gene on chromosome 3p21." [MIM:619981]
synonym: "BRDCS2" EXACT []
xref: MIM:619981
is_a: DOID:9008270 ! Braddock Carey Syndrome
created_by: mtutaj
creation_date: 2022-08-01T08:52:27Z

[Term]
id: DOID:9000153
name: Non-AIDS-Related Kaposi Sarcoma
xref: MESH:C554497
is_a: DOID:8632 ! Kaposi's sarcoma

[Term]
id: DOID:9000154
name: Major Affective Disorder 6
alt_id: MIM:611536
synonym: "MAFD6" EXACT []
xref: MESH:C567075
is_a: DOID:3312 ! bipolar disorder

[Term]
id: DOID:9000155
name: Burning Mouth Syndrome- Type 3
xref: MESH:C537413
xref: RDO:0003254
is_a: DOID:4331 ! burning mouth syndrome

[Term]
id: DOID:9000156
name: Metaplasia
def: "A condition in which there is a change of one adult cell type to another similar adult cell type." [MESH:D008679]
synonym: "Cervical Metaplasia" NARROW []
xref: EFO:1000168
xref: MESH:D008679
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9000157
name: Striae Distensae, Familial
alt_id: MIM:185200
xref: MESH:C566104
is_a: DOID:9001224 ! Striae Distensae

[Term]
id: DOID:9000158
name: Spinal Epidural Hematoma
def: "A rare epidural hematoma in the spinal epidural space, usually due to a vascular malformation (CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS) or TRAUMA. Spontaneous spinal epidural hematoma is a neurologic emergency due to a rapidly evolving compressive MYELOPATHY." [MESH:D046748]
synonym: "Spinal Epidural Hematomas" EXACT []
synonym: "Spinal Epidural Hemorrhage" EXACT []
synonym: "Spinal Epidural Hemorrhages" EXACT []
xref: MESH:D046748
is_a: DOID:9006013 ! Hematoma

[Term]
id: DOID:9000159
name: Thumb Deformity and Alopecia
alt_id: MIM:188150
xref: MESH:C566054
is_a: DOID:9003748 ! Thumb Deformity
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9000161
name: Autosomal Recessive Nonsyndromic Deafness 120
def: "A disease characterized by congenital or prelingual onset of severe to profound sensorineural hearing loss. Caused by homozygous mutation in the MINAR2 gene on chromosome 5q23." [MIM:620238]
synonym: "autosomal recessive deafness 120" EXACT []
synonym: "DFNB120" EXACT []
xref: MIM:620238
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
created_by: mtutaj
creation_date: 2023-02-06T13:38:25Z

[Term]
id: DOID:9000163
name: Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
alt_id: MIM:242530
xref: MESH:C536274
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1697 ! ichthyosis
is_a: DOID:557 ! kidney disease
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9000164
name: Axial Osteosclerosis
alt_id: MIM:166450
synonym: "osteomesopyknosis" EXACT []
xref: MESH:C537792
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:9000165
name: Neuromuscular Manifestations
def: "Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves." [MESH:D020879]
synonym: "Muscle Disease Manifestation" EXACT []
synonym: "Muscle Disease Manifestations" EXACT []
synonym: "Neuromuscular Manifestation" EXACT []
synonym: "Neuromuscular Signs and Symptoms" EXACT []
xref: MESH:D020879
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9000166
name: Intrinsic Sleep Disorders
def: "Dyssomnias (i.e., insomnias or hypersomnias) associated with dysfunction of internal sleep mechanisms or secondary to a sleep-related medical disorder (e.g., sleep apnea, post-traumatic sleep disorders, etc.). (From Thorpy, Sleep Disorders Medicine, 1994, p187)" [MESH:D020919]
synonym: "Intrinsic Sleep Disorder" EXACT []
synonym: "Post-Traumatic Hypersomnia" EXACT []
synonym: "Posttraumatic Hypersomnia" EXACT []
synonym: "Posttraumatic Hypersomnias" EXACT []
synonym: "post-traumatic hypersomnias" EXACT []
synonym: "Sleep State Misperception" EXACT []
synonym: "sleep state misperceptions" EXACT []
xref: MESH:D020919
is_a: DOID:9002111 ! Dyssomnias

[Term]
id: DOID:9000169
name: Systemic Inflammatory Response Syndrome
def: "A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA <36 degrees C; (2) TACHYCARDIA >90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS." [MESH:D018746]
synonym: "Sepsis Syndrome" EXACT []
synonym: "Sepsis Syndromes" EXACT []
xref: EFO:1001478
xref: MESH:D018746
is_a: DOID:225 ! syndrome
is_a: DOID:9002549 ! Shock
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:9000170
name: Ragweed Sensitivity
xref: MESH:C566725
xref: MIM:179450
xref: MONDO:0008362
is_a: DOID:9002850 ! Immediate Hypersensitivity

[Term]
id: DOID:9000171
name: Yersinia enterocolitica infections
def: "These are infections with bacteria of the species Yersinia enterocolitica." [EFO:0009424]
synonym: "Yersinia enterocolitica infectious disease" EXACT []
xref: EFO:0009424
is_a: DOID:9003800 ! Yersinia Infections
created_by: slaulede
creation_date: 2022-10-06T10:15:30Z

[Term]
id: DOID:9000172
name: 17,20-Lyase Deficiency, Isolated
def: "This disease involves decreased or absent activity of the enzyme 17-alpha-hydroxylase/17,20 lyase due to loss-of-function mutation(s) in the CYP17A1 gene. The clinical manifestations of the deficiency are dependent on whether one or both activities of the enzyme are affected, and may include hypertension due to reduced 17-hydroxylase activity and incomplete genital masculinization in 46,XY infants due to reduced 17,20 lyase activity." []
synonym: "17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Complete" NARROW []
synonym: "17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Partial" NARROW []
synonym: "combined partial 17-alpha-hydroxylase/17,20-lyase deficiency" NARROW []
xref: EFO:0009067
xref: MESH:C567076
is_a: DOID:9006683 ! Congenital Adrenal Hyperplasia, Type 5

[Term]
id: DOID:9000173
name: Eye Burns
def: "Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation." [MESH:D005126]
synonym: "Eye Burn" EXACT []
xref: EFO:1001788
xref: MESH:D005126
xref: RDO:0005554
is_a: DOID:9006447 ! Eye Injuries
is_a: DOID:9007730 ! Burns

[Term]
id: DOID:9000174
name: Becker Nevus Syndrome
alt_id: MIM:604919
synonym: "BECKER NEVUS, ISOLATED" RELATED []
synonym: "BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC" EXACT []
synonym: "BN" RELATED []
xref: MESH:C565735
is_a: DOID:225 ! syndrome
is_a: DOID:9002969 ! Nevus
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:9000175
name: Thoracomelic Dysplasia
alt_id: MIM:273740
synonym: "thoraco-limb dysplasia" EXACT []
xref: MESH:C564773
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9000176
name: INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME
def: "This disease is an autosomal recessive developmental disorder characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and white matter abnormalities on brain imaging." [MIM:619719]
synonym: "IDMYS" EXACT []
xref: MIM:619719
xref: MONDO:0859224
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2022-03-18T17:04:01Z

[Term]
id: DOID:9000177
name: Chudley-Mccullough syndrome
alt_id: MIM:604213
synonym: "CMCS" EXACT []
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 82" EXACT []
synonym: "Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction" EXACT []
synonym: "Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts" EXACT []
synonym: "DFNB82" EXACT []
synonym: "GPSM2-RELATED DISORDERS" EXACT []
xref: MESH:C535459
xref: RDO:0000582
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9007612 ! Arachnoid Cysts

[Term]
id: DOID:9000178
name: Cystic Medial Necrosis of Aorta
synonym: "Erdheim Cystic medial necrosis of aorta" EXACT []
xref: MESH:C536230
is_a: DOID:14004 ! thoracic aortic aneurysm
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9000179
name: Infantile Hypertrophic Pyloric Stenosis 5
alt_id: MIM:612525
synonym: "IHPS5" EXACT []
xref: MESH:C567283
is_a: DOID:12638 ! hypertrophic pyloric stenosis

[Term]
id: DOID:9000180
name: Compassion Fatigue
def: "Stress response that occurs in individuals working in care giving professions." [MESH:D000068376]
synonym: "Secondary Trauma" EXACT []
synonym: "Secondary Traumas" EXACT []
synonym: "Secondary Traumatic Stress" EXACT []
synonym: "Secondary Traumatization" EXACT []
synonym: "Secondary Traumatizations" EXACT []
synonym: "Stresses, Secondary Traumatic" EXACT []
synonym: "Vicarious Trauma" EXACT []
synonym: "Vicarious Traumas" EXACT []
synonym: "Vicarious Traumatization" EXACT []
xref: MESH:D000068376
is_a: DOID:9000601 ! Mental Fatigue

[Term]
id: DOID:9000183
name: Familial Eosinophilia
alt_id: MIM:131400
alt_id: RDO:0012312
synonym: "EOS" EXACT []
xref: MESH:C562722
is_a: DOID:9001371 ! Eosinophilia

[Term]
id: DOID:9000184
name: Ventricular Fibrillation
alt_id: MIM:613601
def: "A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness (SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST." [MESH:D014693]
synonym: "Early repolarization associated with ventricular fibrillation" RELATED []
synonym: "Ventricular Fibrillations" EXACT []
xref: EFO:0004287
xref: MESH:D014693
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:9000185
name: Coumarin Sensitivity
xref: MESH:C567276
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9000186
name: Ossified Ear Cartilages
alt_id: MIM:165670
xref: MESH:C563488
is_a: DOID:182 ! calcinosis

[Term]
id: DOID:9000187
name: Spastic Ataxia 9, Autosomal Recessive
synonym: "SPAX9" EXACT []
xref: MIM:618438
is_a: DOID:0050952 ! spastic ataxia
created_by: mtutaj
creation_date: 2019-06-25T13:09:08Z

[Term]
id: DOID:9000188
name: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2
def: "A disease characterized by failure to thrive apparent in infancy despite adequate caloric intake. Caused by heterozygous mutation in the ATP5F1B gene on chromosome 12q13." []
synonym: "HUMOP2" EXACT []
synonym: "HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIAL COUPLING" BROAD []
xref: MIM:620085
is_a: DOID:700 ! mitochondrial metabolism disease
created_by: mtutaj
creation_date: 2022-11-14T11:54:04Z

[Term]
id: DOID:9000189
name: Fallopian Tube Neoplasms
alt_id: RDO:0002829
def: "Benign or malignant neoplasms of the FALLOPIAN TUBES. They are uncommon. If they develop, they may be located in the wall or within the lumen as a growth attached to the wall by a stalk." [MESH:D005185]
synonym: "Fallopian Tube Neoplasm" EXACT []
xref: MESH:D005185
is_a: DOID:1962 ! fallopian tube disease
is_a: DOID:9007399 ! Female Genital Neoplasms

[Term]
id: DOID:9000190
name: Hypophosphatemic Bone Disease
alt_id: MIM:146350
synonym: "HBD" EXACT []
xref: MESH:C564145
xref: RDO:0013199
is_a: DOID:0050336 ! hypophosphatemia
is_a: DOID:9002278 ! Metabolic Bone Diseases

[Term]
id: DOID:9000191
name: Pseudophakia
def: "Presence of an intraocular lens after cataract extraction." [MESH:D019591]
xref: MESH:D019591
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9000192
name: infectious colitis
def: "This disease is a viral or bacterial infectious process affecting the large intestine." [NCI:C78359]
xref: EFO:1000035
is_a: DOID:0060180 ! colitis
created_by: slaulede
creation_date: 2022-10-25T14:04:08Z

[Term]
id: DOID:9000193
name: Short Stature and Facioauriculothoracic Malformations
alt_id: MIM:609654
xref: MESH:C566457
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000194
name: Cold Hypersensitivity
xref: MESH:C569627
is_a: DOID:9008464 ! Cryopyrin-Associated Periodic Syndromes

[Term]
id: DOID:9000195
name: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
alt_id: MIM:601552
def: "Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera. FDLAB is caused by homozygous mutation in the ASPH gene on chromosome 8q12. (OMIM)" []
synonym: "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" EXACT []
synonym: "FDLAB" EXACT []
synonym: "SHAWAF-TRABOULSI SYNDROME" EXACT []
synonym: "Traboulsi syndrome" EXACT []
xref: MESH:C563293
is_a: DOID:9004201 ! Ectopia Lentis
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000196
name: Fibular Aplasia Ectrodactyly
alt_id: MIM:113310
synonym: "Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia" EXACT []
xref: MESH:C537930
is_a: DOID:0050581 ! brachydactyly

[Term]
id: DOID:9000197
name: Edema
def: "Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE." [MESH:D004487]
synonym: "Anasarca" EXACT []
synonym: "Dropsy" EXACT []
synonym: "Hydrops" EXACT []
xref: EFO:0009373
xref: MESH:D004487
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9000198
name: Erythrokeratodermia Variabilis et Progressiva 7
def: "A palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions, caused by homozygous mutation in the PERP gene on chromosome 6q23. (OMIM)" []
synonym: "EKVP7" EXACT []
xref: MIM:619209
is_a: DOID:0050467 ! erythrokeratodermia variabilis
created_by: mtutaj
creation_date: 2021-03-01T14:36:35Z

[Term]
id: DOID:9000200
name: Leber Hereditary Optic Neuropathy, Autosomal Recessive  2
def: "A disease characterized by subacute bilateral or asymmetrical visual loss, optic nerve pseudoedema and peripapillary telangiectasia in the early phase of the disease, and eventual partial recovery in some patients. Caused by compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23." [MIM:620569]
synonym: "LHONAR2" EXACT []
xref: MIM:620569
is_a: DOID:705 ! Leber hereditary optic neuropathy
created_by: tutajm
creation_date: 2023-11-10T14:47:25Z

[Term]
id: DOID:9000201
name: Yim Ebbin Syndrome
alt_id: MIM:601357
synonym: "ACLH" EXACT []
synonym: "Amelia, cleft lip, palate, hydrocephalus, iris coloboma" EXACT []
synonym: "brachial amelia, cleft lip, and holoprosencephaly" EXACT []
synonym: "Brachial amelia, forebrain defects and facial clefts" EXACT []
xref: MESH:C536713
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:12270 ! coloboma
is_a: DOID:674 ! cleft palate
is_a: DOID:9000545 ! Ectromelia
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9000203
name: Wyburn Mason's Syndrome
synonym: "Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes" EXACT []
synonym: "Wyburn Mason syndrome" EXACT []
xref: MESH:C536752
xref: RDO:0002431
is_a: DOID:225 ! syndrome
is_a: DOID:9001734 ! Neurocutaneous Syndromes
is_a: DOID:9005605 ! Arteriovenous Fistula

[Term]
id: DOID:9000204
name: Platelet-Activating Factor Acetylhydrolase Deficiency
alt_id: MIM:614278
synonym: "PAFAD" EXACT []
xref: MESH:C566640
xref: RDO:0014946
is_a: DOID:2841 ! asthma

[Term]
id: DOID:9000206
name: Subcutaneous Emphysema
def: "Presence of air or gas in the subcutaneous tissues of the body." [MESH:D013352]
synonym: "Subcutaneous Emphysemas" EXACT []
xref: MESH:D013352
xref: RDO:0006636
is_a: DOID:9002884 ! Emphysema

[Term]
id: DOID:9000207
name: Pelvic Floor Disorders
def: "Injury, weakening, or PROLAPSE of the pelvic muscles, surrounding connective tissues or ligaments (PELVIC FLOOR)." [MESH:D059952]
synonym: "Pelvic Floor Disease" EXACT []
synonym: "Pelvic Floor Diseases" EXACT []
synonym: "Pelvic Floor Disorder" EXACT []
xref: MESH:D059952
is_a: DOID:9004702 ! Pregnancy Complications
is_a: DOID:9009146 ! Urogenital Diseases

[Term]
id: DOID:9000208
name: Auriculocondylar Syndrome
synonym: "auriculo-condylar syndrome" EXACT []
synonym: "ears prominent and constricted" EXACT []
synonym: "Question mark ear" EXACT []
synonym: "Question Mark Ears Syndrome" EXACT []
synonym: "Question-Mark Ear Syndrome" EXACT []
xref: MESH:C538270
xref: MIM:PS602483
is_a: DOID:225 ! syndrome
is_a: DOID:2742 ! auditory system disease
created_by: mtutaj
creation_date: 2019-03-21T00:00:00Z

[Term]
id: DOID:9000209
name: frontal fibrosing alopecia
def: "This disease is a lichenoid and scarring inflammatory skin disorder associated with widespread cutaneous inflammation and irreversible hair loss, which occurs predominantly in women of post-menopausal age." [EFO:0009855]
xref: EFO:0009855
is_a: DOID:9006744 ! Familial Lichen Planus
is_a: DOID:987 ! alopecia
created_by: slaulede
creation_date: 2022-12-08T14:02:17Z

[Term]
id: DOID:9000210
name: Neurofibromatosis Type 5
synonym: "Neurofibromatosis type V" EXACT []
synonym: "Segmental neurofibromatosis" EXACT []
xref: MESH:C537390
xref: RDO:0003228
is_a: DOID:8712 ! neurofibromatosis

[Term]
id: DOID:9000211
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
synonym: "HECW2-RELATED CONDITION" EXACT []
synonym: "HECW2-RELATED DISORDER" EXACT []
synonym: "NDHSAL" EXACT []
xref: MIM:617268
xref: RDO:9001505
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005466 ! Language Development Disorders
is_a: DOID:9005603 ! Muscle Hypotonia

[Term]
id: DOID:9000212
name: Hereditary Pyropoikilocytosis
synonym: "HPP" EXACT []
xref: GARD:4619
xref: MESH:C563004
xref: MIM:266140
xref: MONDO:0009948
xref: ORDO:98867
is_a: DOID:2373 ! hereditary elliptocytosis

[Term]
id: DOID:9000213
name: Chromosome 15q14 Deletion Syndrome
xref: MIM:616898
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: mtutaj
creation_date: 2020-07-09T11:02:44Z

[Term]
id: DOID:9000214
name: Myopia 7
alt_id: MIM:609256
synonym: "MYP7" EXACT []
xref: MESH:C563761
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9000216
name: Chromosome 12p Deletion
synonym: "Deletion 12p" EXACT []
synonym: "Monosomy 12p" EXACT []
xref: MESH:C538301
xref: MONDO:0022174
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9000217
name: Stomach Neoplasms
def: "Tumors or cancer of the STOMACH." []
synonym: "Gastric Metaplasia" NARROW []
synonym: "gastric neoplasm" EXACT []
synonym: "gastric neoplasms" EXACT []
synonym: "HDGC" NARROW []
synonym: "neoplasm of stomach" EXACT []
synonym: "stomach neoplasm" EXACT []
xref: EFO:0003897
xref: EFO:1000273
xref: MESH:D013274
is_a: DOID:76 ! stomach disease
is_a: DOID:9006796 ! Gastrointestinal Neoplasms

[Term]
id: DOID:9000218
name: Craniosynostosis with Ectopia Lentis
alt_id: MIM:603595
xref: MESH:C566357
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9004201 ! Ectopia Lentis

[Term]
id: DOID:9000219
name: Carney Complex Variant
alt_id: MIM:608837
alt_id: RDO:0012999
synonym: "MYH8-RELATED CONDITION" BROAD []
xref: MESH:C563845
is_a: DOID:0050471 ! Carney complex

[Term]
id: DOID:9000220
name: Coxsackievirus Infections
alt_id: MIM:120050
def: "A heterogeneous group of infections produced by coxsackieviruses, including HERPANGINA, aseptic meningitis (MENINGITIS, ASEPTIC), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (PLEURODYNIA, EPIDEMIC) and a serious MYOCARDITIS." [MESH:D003384]
synonym: "CB3S" RELATED []
synonym: "Coxsackievirus B3 Susceptibility" RELATED []
synonym: "Coxsackie Virus Infection" EXACT []
synonym: "Coxsackievirus Infection" EXACT []
synonym: "Coxsackie Virus Infections" EXACT []
synonym: "CXB3S" RELATED []
xref: EFO:0007226
xref: MESH:D003384
is_a: DOID:9006549 ! Enterovirus Infections

[Term]
id: DOID:9000221
name: Epiblepharon of Upper Lid
alt_id: MIM:131450
alt_id: MIM:131460
synonym: "Epiblepharon of Lower Lid" EXACT []
xref: MESH:C565051
is_a: DOID:530 ! eyelid disease

[Term]
id: DOID:9000222
name: Cerebellar Degeneration-Related Autoantigen 3
synonym: "CDR3" EXACT []
xref: MIM:602197
xref: RDO:0008857
is_a: DOID:2786 ! cerebellar disease

[Term]
id: DOID:9000223
name: Beta-Ureidopropionase Deficiency
alt_id: MIM:613161
synonym: "UPB1D" EXACT []
xref: MESH:C563210
is_a: DOID:480 ! movement disease
is_a: DOID:653 ! purine-pyrimidine metabolic disorder
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9000224
name: Laboratory Infection
def: "Accidentally acquired infection in laboratory workers." [MESH:D007757]
synonym: "Laboratory Infections" EXACT []
xref: MESH:D007757
is_a: DOID:9005463 ! Occupational Diseases

[Term]
id: DOID:9000225
name: Hypotrichosis and Recurrent Skin Vesicles
alt_id: MIM:613102
synonym: "HYPTSV" EXACT []
xref: MESH:C567751
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:9008110 ! Blister

[Term]
id: DOID:9000226
name: Periodontal Cyst
def: "An epithelium-lined sac containing fluid; usually found at the apex of a pulp-involved tooth. The lateral type occurs less frequently along the side of the root." [MESH:D010509]
synonym: "Dental Root Cyst" EXACT []
synonym: "Dental Root Cysts" EXACT []
synonym: "Dentoalveolar Cyst" EXACT []
synonym: "Dentoalveolar Cysts" EXACT []
synonym: "Lateral Cyst" EXACT []
synonym: "Lateral Cysts" EXACT []
synonym: "Periodontal Cysts" EXACT []
xref: MESH:D010509
is_a: DOID:3388 ! periodontal disease
is_a: DOID:9002504 ! Odontogenic Cysts

[Term]
id: DOID:9000227
name: Hypogonadism and Testicular Atrophy
synonym: "TESTICULAR ATROPHY" NARROW []
xref: MESH:C567108
is_a: DOID:1924 ! hypogonadism

[Term]
id: DOID:9000229
name: Leigh Syndrome due to Mitochondrial Complex V Deficiency
xref: MESH:C564964
is_a: DOID:3652 ! Leigh disease

[Term]
id: DOID:9000230
name: Hyper-IgE Recurrent Infection Syndrome 5
def: "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6R gene on chromosome 1q21. (OMIM)" []
synonym: "autosomal recessive hyper-IgE recurrent infection syndrome-5" EXACT []
synonym: "HIES5" EXACT []
synonym: "Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections" EXACT []
xref: MIM:618944
is_a: DOID:0080545 ! hyper IgE syndrome
created_by: mtutaj
creation_date: 2020-07-22T09:23:14Z

[Term]
id: DOID:9000231
name: plaque psoriasis
def: "This is is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." [EFO:1001494]
synonym: "psoriasis vulgaris" EXACT []
is_a: DOID:8893 ! psoriasis
created_by: slaulede
creation_date: 2023-02-03T15:54:10Z

[Term]
id: DOID:9000232
name: Conjugated Hyperbilirubinemia Type III
alt_id: MIM:237550
xref: MESH:C562885
is_a: DOID:9005094 ! Hereditary Hyperbilirubinemia

[Term]
id: DOID:9000233
name: PARKINSONISM WITH POLYNEUROPATHY
def: "This disease is an autosomal dominant disorder characterized by asymmetrical tremor-dependent parkinsonism. The age of onset ranges from the late forties to mid-sixties, and patients have a good response to levodopa." [MIM:619279]
synonym: "PKNPY" EXACT []
xref: MIM:619279
xref: NCI:C201521
is_a: DOID:0080855 ! Parkinsonism
is_a: DOID:1389 ! polyneuropathy
created_by: slaulede
creation_date: 2021-05-14T11:08:58Z

[Term]
id: DOID:9000234
name: Familial Atrial Fibrillation 15
synonym: "ATFB15" EXACT []
synonym: "ATRIAL FIBRILLATION 15" EXACT []
xref: MIM:615770
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9000235
name: Malignant Hemangiopericytoma
alt_id: MIM:234820
xref: MESH:C562740
is_a: DOID:264 ! hemangiopericytoma

[Term]
id: DOID:9000236
name: Persistent Hyperplastic Primary Vitreous, Autosomal Dominant
synonym: "PHPVAD" EXACT []
xref: MIM:611308
is_a: DOID:0060282 ! persistent hyperplastic primary vitreous
is_a: DOID:9002525 ! Hereditary Eye Diseases
created_by: mtutaj
creation_date: 2019-03-19T00:00:00Z

[Term]
id: DOID:9000238
name: Acute-On-Chronic Liver Failure
def: "Sudden liver failure in the presence of underlying compensated chronic LIVER DISEASE (e.g., LIVER CIRRHOSIS; HEPATITIS; and liver injury and failure) due to a precipitating acute hepatic insult." [MESH:D065290]
synonym: "Acute On Chronic Liver Failure (ACLF)" EXACT []
synonym: "Acute-On-Chronic Liver Failures" EXACT []
synonym: "Acute-On-Chronic Liver Failures (ACLF)" EXACT []
xref: EFO:0007949
xref: MESH:D065290
xref: RDO:0015968
is_a: DOID:9004590 ! Acute Liver Failure

[Term]
id: DOID:9000239
name: Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements
def: "Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate. NEDISHM is caused by homozygous or compound heterozygous mutation in the ZNF142 gene on chromosome 2q35. (OMIM)" []
synonym: "NEDISHM" EXACT []
xref: MIM:618425
is_a: DOID:9002362 ! Hyperkinesis
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:92 ! speech disorder
created_by: gthayman
creation_date: 2019-06-11T16:02:53Z

[Term]
id: DOID:9000240
name: T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations
synonym: "MST1 DEFICIENCY" EXACT []
synonym: "STK4 DEFICIENCY" EXACT []
synonym: "TIIAC" EXACT []
xref: MIM:614868
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:9000241
name: Contrecoup Injury
def: "An injury in which the damage is located on the opposite side of the primary impact site. A blow to the back of head which results in contrecoup injury to the frontal lobes of the brain is the most common type." [MESH:D056886]
synonym: "Contre-coup Injuries" EXACT []
synonym: "Contrecoup Injuries" EXACT []
synonym: "Contre coup Injury" EXACT []
xref: MESH:D056886
xref: RDO:0007766
is_a: DOID:9001600 ! Wounds and Injuries
is_a: DOID:9008967 ! Brain Concussion

[Term]
id: DOID:9000242
name: Lymphoma, AIDS-Related
def: "B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." [MESH:D016483]
synonym: "AIDS Associated Lymphoma" EXACT []
synonym: "AIDS-Associated Lymphomas" EXACT []
synonym: "AIDS-Related Lymphomas" EXACT []
synonym: "AIDS-Related Primary Central Nervous System Lymphoma" NARROW []
synonym: "HIV Related Lymphoma" EXACT []
synonym: "HIV-Related Lymphomas" EXACT []
xref: EFO:1000077
xref: EFO:1001365
xref: MESH:D016483
xref: RDO:0006960
is_a: DOID:707 ! B-cell lymphoma

[Term]
id: DOID:9000243
name: cardioembolic stroke
def: "This is a pathological condition caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain." [EFO:1001976]
xref: EFO:1001976
is_a: DOID:9007096 ! Stroke
created_by: slaulede
creation_date: 2023-01-06T10:54:24Z

[Term]
id: DOID:9000244
name: Ectodermal Dysplasia-Syndactyly Syndrome
xref: MIM:PS613573
is_a: DOID:11193 ! syndactyly
is_a: DOID:2121 ! ectodermal dysplasia
created_by: mtutaj
creation_date: 2019-03-26T12:35:29Z

[Term]
id: DOID:9000245
name: Systolic Murmurs
def: "Heart murmurs which are systolic in timing. They occur between the first and the second HEART SOUNDS, between the closure of MITRAL VALVE and TRICUSPID VALVE and the closure of semilunar aortic and pulmonary valves. Systolic murmurs include ejection murmurs and regurgitant murmurs." [MESH:D054160]
synonym: "Ejection Murmur" EXACT []
synonym: "Ejection Murmurs" EXACT []
synonym: "Systolic Murmur" EXACT []
synonym: "Systolic Regurgitant Murmur" EXACT []
synonym: "Systolic Regurgitant Murmurs" EXACT []
xref: MESH:D054160
is_a: DOID:9002134 ! Heart Murmurs

[Term]
id: DOID:9000246
name: Joint Loose Bodies
def: "Fibrous, bony, cartilaginous and osteocartilaginous fragments in a synovial joint. Major causes are osteochondritis dissecans, synovial chondromatosis, osteophytes, fractured articular surfaces and damaged menisci." [MESH:D007594]
synonym: "Joint Loose Body" EXACT []
xref: MESH:D007594
xref: RDO:0005925
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:9000247
name: Panic Disorder with Joint Laxity
xref: MESH:C566835
is_a: DOID:594 ! panic disorder
is_a: DOID:9005077 ! Joint Instability

[Term]
id: DOID:9000248
name: Nephropathy, Deafness, and Hyperparathyroidism
alt_id: MIM:256120
synonym: "Nephropathy-Deafness-Hyperparathyroidism" EXACT []
xref: MESH:C536401
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:13543 ! hyperparathyroidism
is_a: DOID:783 ! end stage renal disease

[Term]
id: DOID:9000249
name: Oculorenocerebellar Syndrome
alt_id: MIM:257970
xref: MESH:C537739
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9000250
name: Cardioacrofacial Dysplasia
xref: MIM:PS619142
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2021-01-04T16:52:35Z

[Term]
id: DOID:9000251
name: DNA Virus Infections
def: "Diseases caused by DNA VIRUSES." [MESH:D004266]
synonym: "DNA Virus Infection" EXACT []
xref: MESH:D004266
xref: RDO:0004744
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9000252
name: Allergic Rhinoconjunctivitis
def: "Conjunctivitis and rhinitis due to hypersensitivity to various allergens." []
is_a: DOID:11204 ! allergic conjunctivitis
is_a: DOID:4481 ! allergic rhinitis

[Term]
id: DOID:9000253
name: Bazopoulou Kyrkanidou Syndrome
xref: MESH:C537664
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
is_a: DOID:2339 ! Crouzon syndrome
is_a: DOID:9001788 ! Gingival Hemorrhage

[Term]
id: DOID:9000254
name: Distal Hereditary Motor Neuropathy, Type II
alt_id: RDO:0015879
xref: MESH:C580044
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:9000255
name: Chromosomes 1 and 2, Monosomy 2q Duplication 1p
synonym: "Deletion 2q duplication 1p" EXACT []
synonym: "Monosomy 2q duplication 1p" EXACT []
xref: MESH:C535455
xref: RDO:0000576
is_a: DOID:9007973 ! Genetic Translocation

[Term]
id: DOID:9000256
name: Duodenal Neoplasms
alt_id: RDO:0005399
def: "Tumors or cancer of the DUODENUM." [MESH:D004379]
synonym: "duodenal neoplasm" EXACT []
xref: MESH:D004379
is_a: DOID:4072 ! duodenum disease
is_a: DOID:9002245 ! Intestinal Neoplasms

[Term]
id: DOID:9000257
name: Chromosome 8, Monosomy 8p23 1
synonym: "Deletion 8p23 1" EXACT []
synonym: "Monosomy 8p23 1" EXACT []
xref: MESH:C537827
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9000258
name: Aicardi-Goutieres Syndrome 4
synonym: "AGS4" EXACT []
synonym: "RNASEH2A-RELATED CONDITION" EXACT []
xref: MESH:C563681
xref: MIM:610333
xref: MONDO:0012472
is_a: DOID:0050629 ! Aicardi-Goutieres syndrome

[Term]
id: DOID:9000260
name: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE
def: "A disease displaying severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly. (OMIM)" []
synonym: "OCLSBG" EXACT []
synonym: "Symoens-Barnes-Gistelinck type of complex lethal osteochondrodysplasia" EXACT []
xref: MIM:616897
xref: RDO:9001172
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9000261
name: Pseudodiastrophic Dysplasia
alt_id: MIM:264180
synonym: "pseudodiastrophic dwarfism" EXACT []
xref: MESH:C535826
is_a: DOID:0060321 ! umbilical hernia
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9000262
name: Distal Arthrogryposis, with Mental Retardation and Characteristic Facies
alt_id: MIM:208081
xref: MESH:C565940
is_a: DOID:0050646 ! distal arthrogryposis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9000263
name: Mental Retardation Spasticity Ectrodactyly
synonym: "Ectrodactyly, spastic paraplegia and mental retardation" EXACT []
synonym: "Jancar syndrome" EXACT []
synonym: "Mental retardation, spasticity and transverse limb defects" EXACT []
xref: MESH:C537446
xref: RDO:0003289
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9000264
name: Hypercalcemia, Infantile, 2
synonym: "HCINF2" EXACT []
xref: MIM:616963
is_a: DOID:9005216 ! Infantile Hypercalcemia
created_by: rgd
creation_date: 2016-06-13T00:00:00Z

[Term]
id: DOID:9000265
name: Specific Granule Deficiency
synonym: "Lactoferrin-Deficient Neutrophils" EXACT []
synonym: "Neutrophil Lactoferrin Deficiency" EXACT []
xref: MESH:C562873
xref: MIM:PS245480
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9000266
name: Lutz Richner Landolt Syndrome
alt_id: MIM:210550
synonym: "Biliary malformation with renal tubular insufficiency" EXACT []
synonym: "Cholestatic jaundice and renal tubular insufficiency" EXACT []
synonym: "Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies" EXACT []
xref: MESH:C537726
is_a: DOID:1074 ! kidney failure
is_a: DOID:13580 ! cholestasis
is_a: DOID:225 ! syndrome
is_a: DOID:9004898 ! Jaundice
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000267
name: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
synonym: "LADCI" EXACT []
xref: MIM:617182
is_a: DOID:1094 ! attention deficit hyperactivity disorder
is_a: DOID:1561 ! cognitive disorder
is_a: DOID:9000064 ! Cardiac Arrhythmias
is_a: DOID:9005466 ! Language Development Disorders

[Term]
id: DOID:9000268
name: Robinson Miller Bensimon Syndrome
synonym: "Deafness and onychodystrophy, dominant form" EXACT []
xref: MESH:C535864
xref: RDO:0001205
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9000269
name: Epithelioid Hemangioendothelioma
alt_id: RDO:0007183
def: "A tumor of medium-to-large veins, composed of plump-to-spindled endothelial cells that bulge into vascular spaces in a tombstone-like fashion. These tumors are thought to have 'borderline' aggression, where one-third develop local recurrences, but only rarely metastasize. It is unclear whether the epithelioid hemangioendothelioma is truly neoplastic or an exuberant tissue reaction, nor is it clear if this is equivalent to Kimura's disease (see ANGIOLYMPHOID HYPERPLASIA WITH EOSINOPHILIA). (Segen, Dictionary of Modern Medicine, 1992)" [MESH:D018323]
synonym: "Epithelioid Hemangioendotheliomas" EXACT []
xref: MESH:D018323
is_a: DOID:9000293 ! Hemangioendothelioma

[Term]
id: DOID:9000270
name: Congenital Central Hypoventilation Syndrome 1
synonym: "CCHS1" EXACT []
synonym: "CCHS with Hirschsprung disease" NARROW []
synonym: "congenital central hypoventilation syndrome 1 with or without Hirschsprung disease" EXACT []
synonym: "congenital central hypoventilation syndrome with Hirschsprung disease" NARROW []
synonym: "HADDAD SYNDROME" NARROW []
xref: MIM:209880
is_a: DOID:0060731 ! congenital central hypoventilation syndrome
created_by: mtutaj
creation_date: 2022-04-11T16:02:13Z

[Term]
id: DOID:9000271
name: Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
def: "An autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay." [MIM:617011]
synonym: "MDFPMR" EXACT []
xref: MIM:617011
is_a: DOID:9001487 ! Facies
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9000272
name: Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia
alt_id: RDO:0013590
xref: MESH:C564725
is_a: DOID:0050454 ! periventricular nodular heterotopia
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9000273
name: Carnevale Hernandez Castillo Syndrome
synonym: "Triphalyngeal thumbs and brachyectrodactyly" EXACT []
xref: MESH:C535585
xref: RDO:0000797
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9000274
name: Familial Acute Myeloid Leukemia with Mutated Cebpa
synonym: "Cebpa-Dependent Familial Acute Myeloid Leukemia" EXACT []
synonym: "Familial Acute Myeloid Leukaemia" EXACT []
xref: MESH:C580075
xref: RDO:0015886
is_a: DOID:9119 ! acute myeloid leukemia

[Term]
id: DOID:9000275
name: Acute Radiation Syndrome
def: "A condition caused by a brief whole body exposure to more than one sievert dose equivalent of radiation. Acute radiation syndrome is initially characterized by ANOREXIA; NAUSEA; VOMITING; but can progress to hematological, gastrointestinal, neurological, pulmonary, and other major organ dysfunction." [MESH:D054508]
synonym: "Acute Radiation Syndromes" EXACT []
xref: MESH:D054508
xref: RDO:0007678
is_a: DOID:225 ! syndrome
is_a: DOID:9000111 ! Radiation Injuries

[Term]
id: DOID:9000276
name: Juvenile Amyotrophic Lateral Sclerosis
def: "A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually before the age of 25. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts." [ISBN13:9780070005143]
synonym: "ALSJ" EXACT []
synonym: "JALS" EXACT []
synonym: "juvenile ALS" EXACT []
is_a: DOID:332 ! amyotrophic lateral sclerosis
created_by: slaulede
creation_date: 2020-07-23T15:09:21Z

[Term]
id: DOID:9000277
name: Radiation-Induced Neoplasms
def: "Tumors, cancer or other neoplasms produced by exposure to ionizing or non-ionizing radiation." [MESH:D009381]
synonym: "Radiation Induced Cancer" EXACT []
synonym: "Radiation-Induced Cancers" EXACT []
synonym: "Radiation-Induced Neoplasm" EXACT []
xref: MESH:D009381
is_a: DOID:14566 ! disease of cellular proliferation
is_a: DOID:9000111 ! Radiation Injuries

[Term]
id: DOID:9000278
name: Adult Parathyroid Cancer
alt_id: RDO:0002958
synonym: "parathyroid carcinoma, adult" EXACT []
synonym: "parathyroid neoplasm, adult" EXACT []
xref: MESH:C537173
is_a: DOID:9007696 ! Parathyroid Cancer

[Term]
id: DOID:9000279
name: Congenital Progeroid Syndrome, Petty Type
alt_id: MIM:612289
synonym: "CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA, DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL INTELLIGENCE" EXACT []
synonym: "Fontaine progeroid syndrome" EXACT []
synonym: "FPS" EXACT []
synonym: "Gorlin-Chaudhry-Moss syndrome" EXACT []
xref: MESH:C567360
is_a: DOID:3911 ! progeria
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9000280
name: Ataxia-Telangiectasia Variant V2
xref: MESH:C565380
xref: RDO:0014031
is_a: DOID:12704 ! ataxia telangiectasia

[Term]
id: DOID:9000281
name: Parkinson's Disease 16
alt_id: MIM:613164
synonym: "PARK16" EXACT []
synonym: "Parkinson Disease 16" EXACT []
xref: MESH:C567726
is_a: DOID:14330 ! Parkinson's disease

[Term]
id: DOID:9000282
name: IMAGEI Syndrome
synonym: "IMAGEI" EXACT []
synonym: "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency" EXACT []
xref: MIM:618336
is_a: DOID:0050811 ! congenital adrenal hyperplasia
is_a: DOID:0080019 ! metaphyseal dysplasia
is_a: DOID:2914 ! immune system disease
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9002231 ! Fetal Growth Retardation
created_by: mtutaj
creation_date: 2019-02-22T00:00:00Z

[Term]
id: DOID:9000283
name: Islet Cell Adenoma
def: "A benign tumor of the pancreatic ISLET CELLS. Usually it involves the INSULIN-producing PANCREATIC BETA CELLS, as in INSULINOMA, resulting in HYPERINSULINISM." [MESH:D007516]
synonym: "islet cell adenomas" EXACT []
synonym: "nesidioblastoma" EXACT []
xref: MESH:D007516
xref: NCI:C34051
is_a: DOID:657 ! adenoma
is_a: DOID:9009186 ! Pancreatic Benign Neoplasm

[Term]
id: DOID:9000284
name: X-linked Microhydranencephaly
alt_id: MIM:306990
synonym: "Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence" EXACT []
synonym: "MHACX" EXACT []
xref: MESH:C564409
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:4621 ! holoprosencephaly
is_a: DOID:9002231 ! Fetal Growth Retardation

[Term]
id: DOID:9000285
name: Mucopolysaccharidosis VIII
synonym: "Diferrante Syndrome" EXACT []
synonym: "Glucosamine-6-Sulfate Sulfatase Deficiency" EXACT []
synonym: "MPS VIII" EXACT []
synonym: "mucopolysaccharidosis type VIII" EXACT []
xref: MESH:C563094
is_a: DOID:12798 ! mucopolysaccharidosis

[Term]
id: DOID:9000286
name: Myopia 13
alt_id: MIM:300613
synonym: "MYOPIA 13, X-LINKED" EXACT []
synonym: "MYP13" EXACT []
xref: MESH:C564473
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9000287
name: Progressive Muscular Dystrophy, Pectorodorsal
alt_id: MIM:310095
alt_id: RDO:0013168
synonym: "Muscular Dystrophy, Progressive, Involving Shoulder Girdle and Back" EXACT []
xref: MESH:C564095
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9000288
name: Chronic Intermittent Hypoxia
def: "This condition involves repetitive cycles of hypoxia and normoxia, which resembles the fluctuation of oxygen saturation in obstructive sleep apnea." []
synonym: "CIH" EXACT []
is_a: DOID:9004756 ! Brain Hypoxia

[Term]
id: DOID:9000289
name: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES
def: "A disease characterized by generally mild global developmental delay with variably impaired intellectual development, walking by 2 to 3 years, and slow language acquisition." [MIM:619228]
synonym: "DEFDA" EXACT []
synonym: "SATB1-RELATED CONDITION" BROAD []
xref: MIM:619228
is_a: DOID:9001487 ! Facies
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9009007 ! Tooth Abnormalities
created_by: slaulede
creation_date: 2021-04-08T11:14:32Z

[Term]
id: DOID:9000290
name: Stargardt Disease 3
alt_id: MIM:600110
synonym: "Macular dystrophy, autosomal dominant, chromosome 6-linked," EXACT []
synonym: "Macular dystrophy with flecks, type 3" EXACT []
synonym: "STARGARDT DISEASE, DOMINANT" BROAD []
synonym: "Stargardt-Like Macular Dystrophy, Autosomal Dominant" EXACT []
synonym: "STGD3" EXACT []
xref: MESH:C535805
is_a: DOID:0050817 ! Stargardt disease

[Term]
id: DOID:9000291
name: Athletic Injuries
def: "Injuries incurred during participation in competitive or non-competitive sports." [MESH:D001265]
synonym: "Athletic Injury" EXACT []
synonym: "Sports Injuries" EXACT []
synonym: "Sports Injury" EXACT []
xref: MESH:D001265
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9000292
name: Respiratory Paralysis
def: "Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders." [MESH:D012133]
synonym: "Diaphragmatic Paralysis" EXACT []
synonym: "Muscle Paralyses, Respiratory" EXACT []
synonym: "Respiratory Muscle Paralysis" EXACT []
xref: EFO:1001840
xref: MESH:D012133
is_a: DOID:11162 ! respiratory failure
is_a: DOID:9005246 ! Paralysis

[Term]
id: DOID:9000293
name: Hemangioendothelioma
def: "A neoplasm derived from blood vessels, characterized by numerous prominent endothelial cells that occur singly, in aggregates, and as the lining of congeries of vascular tubes or channels. Hemangioendotheliomas are relatively rare and are of intermediate malignancy (between benign hemangiomas and conventional angiosarcomas). They affect men and women about equally and rarely develop in childhood. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1866)" [MESH:D006390]
synonym: "Hemangio Endothelioma" EXACT []
synonym: "Hemangio-Endotheliomas" EXACT []
synonym: "Hemangioendotheliomas" EXACT []
synonym: "Vascular Endothelioma" EXACT []
synonym: "Vascular Endotheliomas" EXACT []
xref: MESH:D006390
xref: RDO:0000320
is_a: DOID:255 ! hemangioma

[Term]
id: DOID:9000294
name: Trichilemmoma
def: "A benign tumour originating from the outer root sheath of the hair follicle. (HPO)" []
synonym: "Tricholemmoma" EXACT []
xref: NCI:C4113
is_a: DOID:5375 ! hair follicle neoplasm
created_by: rgd
creation_date: 2017-02-03T00:00:00Z

[Term]
id: DOID:9000295
name: Ring Chromosome 14 Syndrome
alt_id: MIM:616606
synonym: "Chromosome 14 ring" EXACT []
synonym: "Ring 14" EXACT []
synonym: "Ring 14 Syndrome" EXACT []
xref: MESH:C535487
xref: NCI:C185638
is_a: DOID:225 ! syndrome
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9000296
name: Immunodeficiency 96
def: "An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13." [MIM:619774]
synonym: "IMD96" EXACT []
xref: MIM:619774
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2022-03-08T11:24:31Z

[Term]
id: DOID:9000297
name: Jequier Kozlowski Skeletal Dysplasia
synonym: "Cloverleaf skull and bone dysplasias" EXACT []
synonym: "Facies unusual arthrogryposis advanced skeletal maturation" EXACT []
synonym: "Round face, short small nose, advanced bone age, enlarged diaphysis" EXACT []
xref: MESH:C537569
xref: RDO:0003432
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000298
name: Pathological Conditions, Signs and Symptoms
def: "Abnormal anatomical or physiological conditions and objective or subjective manifestations of disease, not classified as disease or syndrome." [MESH:D013568]
subset: RGD_JBrowse_slim
synonym: "symptoms and general pathology" EXACT []
xref: MESH:D013568
is_a: DOID:4 ! disease

[Term]
id: DOID:9000299
name: cardiac amyloidosis
def: "This is a disease in which cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension." [PMID:28279425]
synonym: "amyloid cardiomyopathy" EXACT []
synonym: "amyloid heart disease" EXACT []
synonym: "amyloid heart muscle disease" EXACT []
synonym: "amyloidosis of heart" EXACT []
synonym: "senile cardiac amyloidosis" EXACT []
xref: EFO:1001984
xref: HP:0030843
xref: MP:0021148
is_a: DOID:9120 ! amyloidosis
created_by: slaulede
creation_date: 2022-12-05T15:38:46Z

[Term]
id: DOID:9000300
name: Refractory Anemia
alt_id: RDO:0004835
def: "A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy." [MESH:D000753]
synonym: "Refractory Anemias" EXACT []
xref: EFO:0003802
xref: MESH:D000753
xref: NCI:C2872
is_a: DOID:0050908 ! myelodysplastic syndrome
is_a: DOID:2355 ! anemia

[Term]
id: DOID:9000301
name: Myotubular Myopathy with Abnormal Genital Development
alt_id: MIM:300219
xref: MESH:C564561
is_a: DOID:422 ! congenital structural myopathy
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:9000303
name: Familial Restrictive Cardiomyopathy 6
def: "Characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death. Caused by compound heterozygous mutation in the KIF20A gene on chromosome 5q31. (OMIM)" []
synonym: "RCM6" EXACT []
xref: MIM:619433
is_a: DOID:397 ! restrictive cardiomyopathy
created_by: mtutaj
creation_date: 2021-07-16T16:16:52Z

[Term]
id: DOID:9000304
name: Manganese Poisoning
def: "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON'S DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" [MESH:D020149]
synonym: "Manganese Neurotoxicity Syndrome" EXACT []
synonym: "Manganese Neurotoxicity Syndromes" EXACT []
synonym: "Nervous System Diseases, Manganese Induced" EXACT []
synonym: "Nervous System Poisoning, Manganese" EXACT []
xref: EFO:1001808
xref: MESH:D020149
xref: RDO:0007318
is_a: DOID:9000046 ! Poisoning
is_a: DOID:9001363 ! Heavy Metal Poisoning, Nervous System

[Term]
id: DOID:9000305
name: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS
def: "This disease is an autosomal recessive complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Brain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy. Laboratory studies show increased serum lactate and deficiencies of mitochondrial respiratory chain complexes, consistent with global mitochondrial dysfunction." [MIM:619147]
synonym: "LEPID" EXACT []
synonym: "LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS" NARROW []
xref: MIM:619147
xref: MONDO:0030893
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9008681 ! Deafness
created_by: slaulede
creation_date: 2021-04-09T10:23:34Z

[Term]
id: DOID:9000307
name: Presbycusis
def: "Gradual bilateral hearing loss associated with aging that is due to progressive degeneration of cochlear structures and central auditory pathways. Hearing loss usually begins with the high frequencies then progresses to sounds of middle and low frequencies." [MESH:D011304]
synonym: "age-related hearing impairment" EXACT []
synonym: "Age-related hearing loss" EXACT []
synonym: "ARHL" EXACT []
synonym: "Presbyacusia" EXACT []
synonym: "Presbycuses" EXACT []
synonym: "Senile deafness" EXACT []
xref: EFO:0005782
xref: MESH:D011304
xref: MONDO:0043765
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9007801 ! Diseases of the Aged

[Term]
id: DOID:9000308
name: Bone Retroversion
def: "Attachment of a bone in which its head and neck is rotated excessively backward." [MESH:D060751]
synonym: "Bone Retrotorsion" EXACT []
synonym: "Bone Retrotorsions" EXACT []
synonym: "Bone Retroversions" EXACT []
xref: MESH:D060751
is_a: DOID:9000314 ! Torsion Abnormality
is_a: DOID:9001456 ! Bone Malalignment

[Term]
id: DOID:9000309
name: Growth Hormone Insensitivity with Immune Dysregulation
synonym: "growth hormone insensitivity syndrome with immune dysregulation" EXACT []
xref: MIM:PS245590
is_a: DOID:225 ! syndrome
is_a: DOID:2914 ! immune system disease
is_a: DOID:9007661 ! Dwarfism
created_by: mtutaj
creation_date: 2020-10-09T12:58:24Z

[Term]
id: DOID:9000310
name: Lung Injury
def: "Damage to any compartment of the lung caused by physical, chemical, or biological agents which characteristically elicit inflammatory reaction. These inflammatory reactions can either be acute and dominated by NEUTROPHILS, or chronic and dominated by LYMPHOCYTES and MACROPHAGES." [MESH:D055370]
synonym: "Chronic Lung Injuries" NARROW []
synonym: "Chronic Lung Injury" NARROW []
synonym: "Lung Injuries" EXACT []
synonym: "Pulmonary Injuries" EXACT []
synonym: "Pulmonary Injury" EXACT []
xref: MESH:D055370
is_a: DOID:850 ! lung disease
is_a: DOID:9001954 ! Thoracic Injuries

[Term]
id: DOID:9000311
name: Lichtenstein Syndrome
alt_id: MIM:246550
xref: MESH:C535894
is_a: DOID:1227 ! neutropenia
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9008267 ! Fibrous Dysplasia of Bone

[Term]
id: DOID:9000312
name: Decerebrate State
def: "A condition characterized by abnormal posturing of the limbs that is associated with injury to the brainstem. This may occur as a clinical manifestation or induced experimentally in animals. The extensor reflexes are exaggerated leading to rigid extension of the limbs accompanied by hyperreflexia and opisthotonus. This condition is usually caused by lesions which occur in the region of the brainstem that lies between the red nuclei and the vestibular nuclei. In contrast, decorticate rigidity is characterized by flexion of the elbows and wrists with extension of the legs and feet. The causative lesion for this condition is located above the red nuclei and usually consists of diffuse cerebral damage. (From Adams et al., Principles of Neurology, 6th ed, p358)" [MESH:D003655]
synonym: "Decerebrate Posturing" EXACT []
synonym: "Decerebrate Posturings" EXACT []
synonym: "Decerebrate Rigidity" EXACT []
synonym: "Decerebrate States" EXACT []
synonym: "Decorticate Rigidities" EXACT []
synonym: "Decorticate Rigidity" EXACT []
synonym: "Decorticate State" EXACT []
synonym: "Decorticate States" EXACT []
xref: MESH:D003655
xref: RDO:0005312
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9000313
name: Phosphaturic Mesenchymal Tumor
def: "This is an extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." [NCI:C67237]
synonym: "Phosphaturic Mesenchymal Tumor, Mixed Connective Tissue Type" EXACT []
synonym: "Phosphaturic Mesenchymal Tumor, Mixed Connective Tissue Variant" EXACT []
synonym: "PMT" EXACT []
xref: EFO:1000473
is_a: DOID:9003944 ! Connective Tissue Neoplasms
is_a: DOID:9004389 ! Bone Neoplasms
created_by: slaulede
creation_date: 2023-02-27T15:39:15Z

[Term]
id: DOID:9000314
name: Torsion Abnormality
def: "An abnormal twisting or rotation of a bodily part or member on its axis." [MESH:D014102]
synonym: "Torsion Abnormalities" EXACT []
xref: MESH:D014102
xref: RDO:0006725
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9000315
name: Pleural Neoplasms
def: "Neoplasms of the thin serous membrane that envelopes the lungs and lines the thoracic cavity. Pleural neoplasms are exceedingly rare and are usually not diagnosed until they are advanced because in the early stages they produce no symptoms." [MESH:D010997]
synonym: "pleural cavity neoplasm" EXACT []
synonym: "pleural cavity tumor" EXACT []
synonym: "Pleural Neoplasm" EXACT []
synonym: "pleural tumor" EXACT []
synonym: "pleura tumor" EXACT []
xref: MESH:D010997
xref: MONDO:0021065
xref: NCI:C3332
is_a: DOID:1532 ! pleural disease
is_a: DOID:9003744 ! Respiratory Tract Neoplasms

[Term]
id: DOID:9000316
name: UV-Sensitive Syndrome 2
synonym: "ERCC8-RELATED CONDITION" BROAD []
synonym: "UVSS2" EXACT []
xref: MIM:614621
xref: NCI:C173110
is_a: DOID:0060240 ! UV-sensitive syndrome

[Term]
id: DOID:9000318
name: Dieterich's Disease
synonym: "avascular necrosis of the metacarpal head" EXACT []
synonym: "Dieterich disease" EXACT []
xref: MESH:C536172
is_a: DOID:10159 ! osteonecrosis

[Term]
id: DOID:9000319
name: Lentigo
alt_id: MIM:150900
def: "Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome)." [MESH:D007911]
synonym: "Lentigines" EXACT []
synonym: "Lentiginoses" EXACT []
synonym: "Lentiginosis" EXACT []
synonym: "Lentigos" EXACT []
xref: MESH:D007911
is_a: DOID:9001583 ! Melanosis

[Term]
id: DOID:9000321
name: Autosomal Recessive Nonsyndromic Deafness 117
def: "Nonsyndromic bilateral moderate-to-profound sensorineural deafness, with onset in early childhood, caused by homozygous mutation in the CLRN2 gene on chromosome 4p15. (OMIM)" []
synonym: "CLRN2-RELATED CONDITION" EXACT []
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 117" EXACT []
synonym: "DFNB117" EXACT []
xref: MIM:619174
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
created_by: mtutaj
creation_date: 2021-02-03T10:35:49Z

[Term]
id: DOID:9000322
name: Fitz-Hugh-Curtis Syndrome
synonym: "Gonococcal Perihepatitis" EXACT []
synonym: "Perihepatitis Syndrome" EXACT []
xref: MESH:C537936
is_a: DOID:1003 ! pelvic inflammatory disease
is_a: DOID:11263 ! chlamydia
is_a: DOID:2237 ! hepatitis
is_a: DOID:225 ! syndrome
is_a: DOID:8283 ! peritonitis

[Term]
id: DOID:9000323
name: Biventricular Hypertrophy
def: "Enlargement of the heart, usually indicated by a cardiothoracic ratio above 0.50, involving both heart ventricles." []
synonym: "BVH" EXACT []
is_a: DOID:9003936 ! Cardiomegaly
created_by: rgd
creation_date: 2017-06-21T00:00:00Z

[Term]
id: DOID:9000324
name: Autoimmune Limb-Girdle Myasthenia
alt_id: MIM:159400
synonym: "limb-girdle myasthenia gravis" EXACT []
xref: MESH:C563552
is_a: DOID:3635 ! congenital myasthenic syndrome
is_a: DOID:437 ! myasthenia gravis

[Term]
id: DOID:9000325
name: Abscess
def: "Accumulation of purulent material in tissues, organs, or circumscribed spaces, usually associated with signs of infection." [MESH:D000038]
synonym: "Abscesses" EXACT []
xref: EFO:0003030
xref: MESH:D000038
is_a: DOID:9005889 ! Suppuration

[Term]
id: DOID:9000326
name: Thrombotic Microangiopathies
def: "Diseases that result in THROMBOSIS in MICROVASCULATURE. The two most prominent diseases are PURPURA, THROMBOTIC THROMBOCYTOPENIC; and HEMOLYTIC-UREMIC SYNDROME. Multiple etiological factors include VASCULAR ENDOTHELIAL CELL damage due to SHIGA TOXIN; FACTOR H deficiency; and aberrant VON WILLEBRAND FACTOR formation." [MESH:D057049]
synonym: "thrombotic microangiopathy" EXACT []
xref: MESH:D057049
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:9000327
name: Acute Myelocytic Leukemia with Polyposis Coli and Colon Cancer
alt_id: MIM:246470
xref: MESH:C565441
is_a: DOID:0050424 ! familial adenomatous polyposis
is_a: DOID:9119 ! acute myeloid leukemia

[Term]
id: DOID:9000329
name: Uterine Retroversion
def: "A condition in which the UTERUS is found tilted backward toward the spine. The uterus is more commonly found in a straight vertical or anteverted (tipped forward) position. Although retroverted uterus is a normal variant position without symptoms, it is sometimes associated with pain, discomfort and other pregnancy complications." [MESH:D060725]
synonym: "Incarcerated Retroverted Uterus" EXACT []
synonym: "Retroflexed Uterus" EXACT []
synonym: "Retroverted Gravid Uterus" EXACT []
synonym: "Retroverted Uterus" EXACT []
synonym: "Tipped Uterus" EXACT []
synonym: "Uterine Retroflexion" EXACT []
synonym: "Uterine Retroflexions" EXACT []
synonym: "Uterine Retroversions" EXACT []
xref: MESH:D060725
is_a: DOID:345 ! uterine disease
is_a: DOID:9000314 ! Torsion Abnormality

[Term]
id: DOID:9000330
name: Kahn-Kahn-Katsanis Syndrome
synonym: "3KS" EXACT []
synonym: "3K syndrome" EXACT []
xref: MIM:618460
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2019-06-25T13:42:43Z

[Term]
id: DOID:9000331
name: Parvoviridae Infections
def: "Virus infections caused by the PARVOVIRIDAE." [MESH:D010322]
synonym: "Parvoviridae Infection" EXACT []
synonym: "Parvovirus Infection" EXACT []
synonym: "Parvovirus Infections" EXACT []
xref: MESH:D010322
xref: RDO:0004800
is_a: DOID:9000251 ! DNA Virus Infections

[Term]
id: DOID:9000332
name: Hypovolemia
def: "An abnormally low volume of blood circulating through the body. It may result in hypovolemic shock (see SHOCK)." [MESH:D020896]
synonym: "Hypovolemias" EXACT []
synonym: "Hypovolemic" EXACT []
synonym: "Hypovolemics" EXACT []
xref: MESH:D020896
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9000333
name: Progressive Vestibulocochlear Dysfunction
alt_id: MIM:193005
synonym: "Familial progressive vestibulo-cochlear dysfunction" EXACT []
synonym: "Familial progressive vestibulocochlear dysfunction" EXACT []
xref: MESH:C536346
is_a: DOID:12657 ! vestibulocochlear nerve disease

[Term]
id: DOID:9000334
name: Metaphyseal Dysplasia, Braun-Tinschert Type
alt_id: MIM:605946
xref: MESH:C565271
is_a: DOID:0080019 ! metaphyseal dysplasia

[Term]
id: DOID:9000335
name: Keratoconus 8
synonym: "KTCN8" EXACT []
xref: MIM:614628
is_a: DOID:10126 ! keratoconus

[Term]
id: DOID:9000336
name: Epispadias
def: "A birth defect due to malformation of the URETHRA in which the urethral opening is above its normal location. In the male, the malformed urethra generally opens on the top or the side of the PENIS, but the urethra can also be open the entire length of the penis. In the female, the malformed urethral opening is often between the CLITORIS and the labia, or in the ABDOMEN." [MESH:D004842]
synonym: "Epispadia" EXACT []
xref: MESH:D004842
is_a: DOID:732 ! urethral disease
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:9000337
name: Parental Death
def: "The death of the father or mother or another person in this role." [MESH:D063129]
synonym: "Parental Deaths" EXACT []
synonym: "Paternal Death" EXACT []
synonym: "Paternal Deaths" EXACT []
xref: MESH:D063129
xref: RDO:0012111
is_a: DOID:9000543 ! Death

[Term]
id: DOID:9000339
name: Immunodeficiency 102
def: "An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Caused by hemizygous mutation in the SASH3 gene on chromosome Xq26." [MIM:301082]
synonym: "IMD102" EXACT []
xref: MIM:301082
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2022-06-02T12:29:40Z

[Term]
id: DOID:9000341
name: Concentric Annular Macular Dystrophy
alt_id: MIM:153870
synonym: "BCAMD" EXACT []
synonym: "benign concentric annular macular dystrophy" EXACT []
synonym: "bull's eye maculopathy" EXACT []
synonym: "IMPG1-RELATED CONDITION" BROAD []
synonym: "MCDCA" EXACT []
synonym: "retinitis pigmentosa 91" EXACT []
synonym: "RP91" EXACT []
xref: MESH:C537833
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:4448 ! macular degeneration

[Term]
id: DOID:9000343
name: Vision Disorders
def: "Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132)." [MESH:D014786]
synonym: "Day Blindness" EXACT []
synonym: "Hemeralopia" EXACT []
synonym: "hemeralopias" EXACT []
synonym: "Macropsia" EXACT []
synonym: "macropsias" EXACT []
synonym: "Metamorphopsia" EXACT []
synonym: "Metamorphopsias" EXACT []
synonym: "Micropsia" EXACT []
synonym: "Micropsias" EXACT []
synonym: "Vision Disabilities" EXACT []
synonym: "Vision Disability" EXACT []
synonym: "Vision Disorder" EXACT []
synonym: "visual disorder" EXACT []
synonym: "visual disorders" EXACT []
synonym: "visual impairment" EXACT []
synonym: "visual impairments" EXACT []
xref: MESH:D014786
xref: MONDO:0021084
is_a: DOID:0050155 ! sensory system disease
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:9000345
name: Periventricular Laminar Heterotopia
alt_id: RDO:0004674
xref: MESH:C548481
is_a: DOID:2490 ! congenital nervous system abnormality
is_a: DOID:9004667 ! Malformations of Cortical Development, Group II

[Term]
id: DOID:9000346
name: Congenital Disorder of Glycosylation Type IIt
synonym: "CDG2T" EXACT []
synonym: "CDG IIt" EXACT []
synonym: "CDGIIt" EXACT []
xref: MIM:618885
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
created_by: mtutaj
creation_date: 2020-05-21T12:14:24Z

[Term]
id: DOID:9000347
name: Multisystem Autoimmune Disease, Infantile-Onset, 1
def: "A disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. (OMIM)" []
synonym: "ADMIO1" EXACT []
synonym: "STAT3-RELATED CONDITIONS" BROAD []
synonym: "STAT3-related early-onset multisystem autoimmune disease" EXACT []
xref: MIM:615952
xref: NCI:C157123
xref: ORDO:438159
is_a: DOID:9002419 ! Multisystem Autoimmune Disease, Infantile-Onset

[Term]
id: DOID:9000348
name: Confusion
def: "A mental state characterized by bewilderment, emotional disturbance, lack of clear thinking, and perceptual disorientation." [MESH:D003221]
synonym: "Bewilderment" EXACT []
synonym: "Confusional State" EXACT []
synonym: "Confusional States" EXACT []
synonym: "Disorientation" EXACT []
synonym: "Post-Ictal Confusion" EXACT []
synonym: "Reactive Confusion" EXACT []
xref: EFO:0020914
xref: MESH:D003221
is_a: DOID:9002320 ! Neurobehavioral Manifestations

[Term]
id: DOID:9000349
name: Spastic Paraplegia with Kallmann Syndrome
alt_id: MIM:308750
synonym: "Familial spastic paraplegia with Kallmann's syndrome" EXACT []
synonym: "Spastic Paraplegia-Kallmann Syndrome" EXACT []
xref: MESH:C536873
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:3614 ! Kallmann syndrome

[Term]
id: DOID:9000350
name: Toxocara Canis Infection (Canine Roundworms)
synonym: "Human infection with the larvae of canine or feline roundworms" EXACT []
synonym: "Toxocara catis infection (feline roundworms)" EXACT []
xref: MESH:C531834
xref: RDO:0000227
is_a: DOID:9790 ! toxocariasis

[Term]
id: DOID:9000351
name: Diarrhea 9
def: "A form of neonatal-onset chronic diarrhea characterized by an osmotic diarrhea that is not substrate specific." [MIM:618168]
synonym: "CHRONIC DIARRHEA" BROAD []
synonym: "DIAR9" EXACT []
xref: MIM:618168
is_a: DOID:9007847 ! Infantile Diarrhea
created_by: slaulede
creation_date: 2018-12-06T14:44:13Z

[Term]
id: DOID:9000352
name: Vascular System Injuries
def: "Injuries to blood vessels caused by laceration, contusion, puncture, or crush and other types of injuries. Symptoms vary by site and mode of injuries and may include bleeding, bruising, swelling, pain, and numbness. It does not include injuries secondary to pathologic function or diseases such as ATHEROSCLEROSIS." [MESH:D057772]
synonym: "Vascular Injuries" EXACT []
synonym: "Vascular Injury" EXACT []
synonym: "Vascular System Injury" EXACT []
xref: MESH:D057772
xref: RDO:0007794
is_a: DOID:178 ! vascular disease
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9000353
name: Callosities
def: "Localized hyperplasia of the horny layer of the epidermis due to pressure or friction. (Dorland, 27th ed)" [MESH:D002145]
synonym: "Callosity" EXACT []
synonym: "Corns" EXACT []
xref: MESH:D002145
is_a: DOID:161 ! keratosis

[Term]
id: DOID:9000354
name: Fish Diseases
def: "Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates)." [MESH:D005393]
synonym: "Fish Disease" EXACT []
xref: MESH:D005393
xref: RDO:0005610
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9000355
name: Neurodevelopmental Disorder with Microcephaly and Gray Sclerae
def: "MRT55 is caused by homozygous mutation in the PUS3 gene on chromosome 11q24." []
synonym: "Mental Retardation, Autosomal Recessive 55" EXACT []
synonym: "MRT55" EXACT []
synonym: "NEDMIGS" EXACT []
xref: MIM:617051
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder

[Term]
id: DOID:9000356
name: Transaldolase Deficiency
alt_id: MIM:606003
def: "Transaldolase deficiency is a rare inborn error of pentose metabolism. Typical features include intrauterine growth restriction, triangular vase, loose wrinkly skin at birth, and development of progressive liver failure. Transaldolase deficiency is caused by homozygous or compound heterozygous mutation in the TALDO1 gene on chromosome 11p15. (OMIM)" []
synonym: "Eyaid syndrome" EXACT []
synonym: "TALDO deficiency" EXACT []
xref: MESH:C563207
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:9000357
name: Male Breast Neoplasms
alt_id: RDO:0007219
def: "Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females." []
synonym: "Male Breast Neoplasm" EXACT []
synonym: "Male Breast Tumor" EXACT []
synonym: "Male Breast Tumors" EXACT []
xref: MESH:D018567
is_a: DOID:9008939 ! Breast Neoplasms

[Term]
id: DOID:9000359
name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY
def: "This disease is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from infancy. The phenotype is highly variable." [MIM:619847]
synonym: "childhood-onset neurodegeneration with progressive microcephaly" EXACT []
synonym: "CONPM" EXACT []
xref: MIM:619847
is_a: DOID:10907 ! microcephaly
is_a: DOID:1289 ! neurodegenerative disease
created_by: slaulede
creation_date: 2022-06-28T10:21:16Z

[Term]
id: DOID:9000361
name: Nonspherocytic Hemolytic Anemia, associated with Abnormality of Red Cell Membrane
alt_id: MIM:206300
alt_id: RDO:0014453
xref: MESH:C565953
is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia

[Term]
id: DOID:9000362
name: Adrenal Gland Neoplasms
alt_id: RDO:0001990
def: "Tumors or cancer of the ADRENAL GLANDS." [MESH:D000310]
synonym: "adrenal gland neoplasm" EXACT []
synonym: "adrenal neoplasm" EXACT []
synonym: "adrenal neoplasms" EXACT []
synonym: "neoplasm of adrenal gland" EXACT []
synonym: "tumor of the adrenal gland" EXACT []
xref: EFO:0003850
xref: MESH:D000310
is_a: DOID:9007803 ! Endocrine Gland Neoplasms
is_a: DOID:9553 ! adrenal gland disease

[Term]
id: DOID:9000363
name: Hematuria
def: "Presence of blood in the urine." [MESH:D006417]
synonym: "Hematurias" EXACT []
synonym: "MACROSCOPIC HEMATURIA" NARROW []
xref: MESH:D006417
is_a: DOID:9003919 ! Urination Disorders
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9000365
name: Immunodeficiency 92
def: "An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Caused by homozygous mutation in the REL gene on chromosome 2p16." [MIM:619652]
synonym: "IMD92" EXACT []
xref: MIM:619652
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2021-12-14T10:19:35Z

[Term]
id: DOID:9000366
name: Isolated Thyrotropin Deficiency
alt_id: RDO:0016057
xref: MESH:C000610012
is_a: DOID:7998 ! hyperthyroidism

[Term]
id: DOID:9000367
name: Multiple Trauma
def: "Multiple physical insults or injuries occurring simultaneously." [MESH:D009104]
synonym: "Multiple Injuries" EXACT []
synonym: "Multiple Injury" EXACT []
synonym: "Multiple Traumas" EXACT []
synonym: "Multiple Wound" EXACT []
synonym: "Multiple Wounds" EXACT []
synonym: "Polytrauma" EXACT []
synonym: "Polytraumas" EXACT []
xref: MESH:D009104
xref: RDO:0006151
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9000368
name: Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets
def: "Recurrent gastrointestinal ulceration with dysfunctional platelets (GURDP) is an autosomal recessive disorder characterized by onset of severe gastrointestinal mucosal ulceration in early childhood. Affected individuals may have secondary iron deficiency anemia or malnourishment. Studies of platelet aggregation show a functional defect associated with decreased thromboxane-A2 production and decreased eicosanoid biosynthesis. The gastrointestinal disease is believed to result from decreased or absent production of prostaglandins that protect the gut mucosa. GURDP is caused by homozygous or compound heterozygous mutation in the PLA2G4A gene on chromosome 1q31." [MIM:618372]
synonym: "GURDP" EXACT []
synonym: "Phospholipase A2, Group IVA, Deficiency of" EXACT []
xref: EFO:0010263
xref: MIM:618372
xref: RDO:9001198
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:77 ! gastrointestinal system disease
created_by: rgd
creation_date: 2016-06-13T00:00:00Z

[Term]
id: DOID:9000369
name: Talonavicular Coalition
alt_id: MIM:186750
xref: MESH:C536895
is_a: DOID:9000067 ! Congenital Foot Deformities

[Term]
id: DOID:9000370
name: streptococcal pharyngitis
def: "This is inflammation of the throat due to Streptococcus pyogenes." [NCI:C116003]
xref: EFO:1002024
is_a: DOID:2275 ! pharyngitis
is_a: DOID:9006844 ! Streptococcal Infections
created_by: slaulede
creation_date: 2023-02-02T15:38:35Z

[Term]
id: DOID:9000371
name: influenza A
def: "A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenza virus A, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. Because type A influenza viruses mutate quickly, creating new strains from one flu season to the next., past flu vaccinations will not prevent infection from a new strain." [https://www.healthline.com, https://www.merriam-webster.com/]
synonym: "Influenza caused by Influenza A virus" EXACT []
synonym: "Influenza due to Influenza A virus" EXACT []
xref: PMID:27438481
is_a: DOID:9001488 ! Human Influenza
created_by: slaulede
creation_date: 2020-12-21T18:43:42Z

[Term]
id: DOID:9000372
name: Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly
synonym: "autosomal dominant mental retardation 63 with macrocephaly" EXACT []
synonym: "MRD63" EXACT []
synonym: "TRIO-RELATED CONDITION" BROAD []
xref: MIM:618825
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:9003816 ! Macrocephaly
created_by: mtutaj
creation_date: 2020-04-01T12:08:25Z

[Term]
id: DOID:9000373
name: Muscle Cramp
def: "A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease process (e.g., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398)" [MESH:D009120]
synonym: "Cramp" EXACT []
synonym: "Cramps" EXACT []
synonym: "Limb Cramp" EXACT []
synonym: "Limb Cramps" EXACT []
synonym: "Muscle Cramps" EXACT []
synonym: "Muscular Cramp" EXACT []
synonym: "Muscular Cramps" EXACT []
xref: EFO:0009846
xref: MESH:D009120
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9000165 ! Neuromuscular Manifestations

[Term]
id: DOID:9000375
name: Drowning
def: "Death that occurs as a result of anoxia or heart arrest, associated with immersion in liquid." [MESH:D004332]
synonym: "Drownings" EXACT []
xref: MESH:D004332
is_a: DOID:9000543 ! Death
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9000376
name: Cone-Rod Dystrophy and Hearing Loss 1
def: "CRDHL1 is characterized by cone-rod dystrophy and sensorineural hearing loss, with relatively late onset of both ocular and hearing impairment. The funduscopic findings are characteristic, showing ring-shaped atrophy along the major vascular arcades that manifests on fundus autofluorescence as a hypoautofluorescent band along the vascular arcades surrounded by hyperautofluorescent borders." [MIM:617236]
synonym: "CRDHL1" EXACT []
xref: MIM:617236
xref: MONDO:0020778
is_a: DOID:9000732 ! Cone-Rod Dystrophy and Hearing Loss
created_by: mtutaj
creation_date: 2022-01-04T11:40:22Z

[Term]
id: DOID:9000377
name: Liberfarb Syndrome
def: "A progressive disorder involving connective tissue, bone, retina, ear, and brain. Caused by homozygous mutation in the PISD gene on chromosome 22q12. (OMIM)" []
synonym: "LIBF" EXACT []
synonym: "PISD-RELATED MITOCHONDRIAL DISEASE" EXACT []
synonym: "SEMDLIBF" EXACT []
synonym: "spondyloepimetaphyseal dysplasia, Liberfarb type" EXACT []
xref: MIM:618889
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
is_a: DOID:225 ! syndrome
created_by: mtutaj
creation_date: 2020-07-02T12:49:37Z

[Term]
id: DOID:9000378
name: Congenital Anosmia
alt_id: MIM:107200
alt_id: MIM:301700
synonym: "ANIC" EXACT []
synonym: "Isolated congenital anosmia" EXACT []
xref: MESH:C535983
is_a: DOID:9004147 ! Anosmia

[Term]
id: DOID:9000379
name: Isolated Syringomyelia
alt_id: MIM:186700
xref: MESH:C566084
xref: RDO:0014546
is_a: DOID:327 ! syringomyelia

[Term]
id: DOID:9000380
name: Spondylarthritis
def: "Inflammation of the joints of the SPINE, the intervertebral articulations." [MESH:D025241]
synonym: "Spinal Arthritides" EXACT []
synonym: "Spinal Arthritis" EXACT []
synonym: "Spondylarthritides" EXACT []
xref: MESH:D025241
is_a: DOID:6590 ! spondylitis
is_a: DOID:848 ! arthritis

[Term]
id: DOID:9000381
name: Chromosome 12p Partial Deletion
synonym: "12p monosomy, partial" EXACT []
synonym: "Deletion 12p12 p11" EXACT []
synonym: "Deletion 12p13" EXACT []
synonym: "Monosomy 12p11" EXACT []
synonym: "Monosomy 12p13" EXACT []
xref: MESH:C538302
xref: RDO:0004264
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9000382
name: Myopia 27
synonym: "MYP27" EXACT []
xref: MIM:618827
is_a: DOID:11830 ! myopia
created_by: mtutaj
creation_date: 2020-03-30T10:36:12Z

[Term]
id: DOID:9000383
name: Galloway-Mowat Syndrome 6
def: "Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with Galloway-Mowat syndrome-6 (GAMOS6) also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported. GAMOS6 is caused by homozygous or compound heterozygous mutation in the WDR4 gene on chromosome 21q22." [MIM:618347]
synonym: "GAMOS6" EXACT []
synonym: "WDR4-RELATED CONDITION" BROAD []
xref: MIM:618347
is_a: DOID:0080694 ! Galloway-Mowat syndrome
created_by: gthayman
creation_date: 2019-03-12T11:44:41Z

[Term]
id: DOID:9000384
name: Asymptomatic Infections
def: "Infections that do not exhibit symptoms." [MESH:D058345]
synonym: "Asymptomatic Infection" EXACT []
synonym: "Subclinical Infection" EXACT []
synonym: "Subclinical Infections" EXACT []
xref: MESH:D058345
is_a: DOID:9003924 ! Asymptomatic Diseases

[Term]
id: DOID:9000385
name: Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation
xref: MESH:C566519
xref: MIM:602564
xref: MONDO:0011256
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9002884 ! Emphysema
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9000386
name: Polyomavirus Infections
def: "Infections with POLYOMAVIRUS, which are often cultured from the urine of kidney transplant patients. Excretion of BK VIRUS is associated with ureteral strictures and CYSTITIS, and that of JC VIRUS with progressive multifocal leukoencephalopathy (LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL)." [MESH:D027601]
synonym: "Polyomavirus Infection" EXACT []
synonym: "Polyomavirus infectious disease" EXACT []
xref: EFO:0007451
xref: MESH:D027601
xref: MONDO:0005927
is_a: DOID:9000251 ! DNA Virus Infections

[Term]
id: DOID:9000387
name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS
def: "This disease is an autosomal recessive disorder characterized by severely impaired global development apparent from infancy, progressive microcephaly, and neonatal cholestasis. Affected individuals show feeding difficulties, failure to thrive, hypotonia, seizures, hyperkinetic movements, irritability, and poor eye contact or vision, and achieve almost no motor or cognitive developmental milestones. Brain imaging demonstrates agenesis or hypoplasia of the corpus callosum." [MIM:619685]
synonym: "NEDMSC" EXACT []
xref: MIM:619685
is_a: DOID:10907 ! microcephaly
is_a: DOID:13580 ! cholestasis
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2022-03-22T15:47:13Z

[Term]
id: DOID:9000388
name: BOCKENHEIMER SYNDROME
def: "This is a very rare condition characterized by extensive, circumscribed venous malformations (phlebectasias) involving all veins, including the smallest ones, on the arms and legs. It is present at birth (congenital) and is progressive during life. The venous dilatation can be seen beneath the skin on the arms and legs. It may occur on one or both sides." [https://rarediseases.info.nih.gov/diseases/13063/genuine-diffuse-phlebectasia, ORPHA:217008]
synonym: "genuine diffuse phlebectasia" EXACT []
xref: ORPHA:217008
is_a: DOID:37 ! skin disease
is_a: DOID:630 ! genetic disease
is_a: DOID:74 ! hematopoietic system disease
created_by: slaulede
creation_date: 2022-02-03T11:35:08Z

[Term]
id: DOID:9000389
name: Blepharophimosis with Facial and Genital Anomalies and Mental Retardation
alt_id: MIM:604314
synonym: "BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, VERLOES TYPE" EXACT []
xref: MESH:C565797
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000390
name: Ophthalmoplegia Totalis with Ptosis and Miosis
alt_id: MIM:258400
xref: MESH:C564927
is_a: DOID:0060260 ! ptosis
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:9003165 ! Miosis

[Term]
id: DOID:9000391
name: Calcific Aortic Disease with Immunologic Abnormalities, Familial
alt_id: MIM:114065
xref: MESH:C566182
is_a: DOID:182 ! calcinosis
is_a: DOID:520 ! aortic disease

[Term]
id: DOID:9000392
name: Fluoride Poisoning
def: "Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of FLUORIDE compounds." [MESH:D005458]
synonym: "Fluoride Poisonings" EXACT []
xref: EFO:1001328
xref: MESH:D005458
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:9000393
name: Platelet Alpha/Delta Storage Pool Deficiency
xref: MESH:C566794
xref: RDO:0015040
is_a: DOID:2223 ! platelet storage pool deficiency

[Term]
id: DOID:9000394
name: Adenomyoepithelioma
def: "A mixed epithelial and myoepithelial neoplasm usually encountered within the breast. It is a multinodular lesion presenting with a bicellular pattern of proliferating epithelial and myoepithelial cells, which are regularly distributed in the glandular structures." []
synonym: "Adenomyoepitheliomas" EXACT []
xref: MESH:D055331
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:9000395
name: Ascaridida Infections
def: "Infections with nematodes of the order ASCARIDIDA." [MESH:D017191]
synonym: "Ascaridida Infection" EXACT []
synonym: "Ascaridida infectious disease" EXACT []
xref: EFO:0007156
xref: MESH:D017191
is_a: DOID:9004401 ! Secernentea Infections

[Term]
id: DOID:9000396
name: Tetramelic Postaxial Oligodactyly
alt_id: MIM:176240
xref: MESH:C566767
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9000397
name: Genetic Predisposition to Disease
def: "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions." [MESH:D020022]
synonym: "Genetic Predisposition" EXACT []
synonym: "Genetic Predispositions" EXACT []
synonym: "Genetic Susceptibilities" EXACT []
synonym: "Genetic Susceptibility" EXACT []
xref: MESH:D020022
is_a: DOID:9002174 ! Disease Susceptibility

[Term]
id: DOID:9000398
name: Powell Chandra Saal Syndrome
alt_id: MIM:261575
synonym: "PHAVER syndrome" EXACT []
synonym: "Vertebral, radial, congenital heart, and ear defects" EXACT []
xref: MESH:C538357
is_a: DOID:0002116 ! pterygium
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000399
name: Baraitser Rodeck Garner syndrome
xref: MESH:C537906
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:12270 ! coloboma
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:674 ! cleft palate
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9000400
name: Beardwell Syndrome
synonym: "Familial ankylosing vertebral hyperostosis with tylosis" EXACT []
xref: MESH:C537665
is_a: DOID:225 ! syndrome
is_a: DOID:6652 ! diffuse idiopathic skeletal hyperostosis
is_a: DOID:9002223 ! Diffuse Palmoplantar Keratoderma

[Term]
id: DOID:9000401
name: Alternariosis
def: "Opportunistic fungal infection by a member of ALTERNARIA genus." [MESH:D060487]
synonym: "alternarioses" EXACT []
synonym: "cutaneous alternarioses" EXACT []
synonym: "Cutaneous Alternariosis" EXACT []
synonym: "Dermal Alternarioses" EXACT []
synonym: "Dermal Alternariosis" EXACT []
synonym: "subcutaneous alternarioses" EXACT []
synonym: "subcutaneous alternariosis" EXACT []
xref: EFO:1001262
xref: MESH:D060487
xref: MONDO:0044083
is_a: DOID:9007316 ! Hyalohyphomycosis

[Term]
id: DOID:9000402
name: Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
def: "A highly variable phenotype characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones. Caused by heterozygous mutation in the H3F3B gene on chromosome 17q25." [MIM:619721]
synonym: "BRYLIB2" EXACT []
synonym: "H3-3B-RELATED CONDITION" EXACT []
xref: MIM:619721
is_a: DOID:9002771 ! Bryant-Li-Bhoj Neurodevelopmental Syndrome
created_by: mtutaj
creation_date: 2022-02-10T13:36:16Z

[Term]
id: DOID:9000403
name: Animal Mammary Neoplasms
def: "Tumors or cancer of the MAMMARY GLAND in animals (MAMMARY GLANDS, ANIMAL)." [MESH:D015674]
synonym: "animal mammary carcinoma" NARROW []
synonym: "animal mammary carcinomas" NARROW []
synonym: "animal mammary neoplasm" EXACT []
synonym: "mammary neoplasm" EXACT []
synonym: "mammary neoplasms" EXACT []
xref: MESH:D015674
is_a: DOID:9004985 ! Animal Diseases
is_a: DOID:9008939 ! Breast Neoplasms

[Term]
id: DOID:9000404
name: Hemobilia
def: "Hemorrhage in or through the BILIARY TRACT due to trauma, inflammation, CHOLELITHIASIS, vascular disease, or neoplasms." [MESH:D006431]
synonym: "Biliary Tract Hemorrhage" EXACT []
synonym: "Biliary Tract Hemorrhages" EXACT []
synonym: "Hemobilias" EXACT []
xref: MESH:D006431
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9000405
name: Echo Virus 11 Sensitivity
alt_id: MIM:129150
synonym: "E11S" EXACT []
xref: MESH:C565071
xref: RDO:0013812
is_a: DOID:9002174 ! Disease Susceptibility
is_a: DOID:9006823 ! Echovirus Infections

[Term]
id: DOID:9000406
name: Eosinophilic Asthma
def: "A severe type of asthma featuring elevated sputum and/or blood eosinophils." []
xref: RDO:9001237
is_a: DOID:2841 ! asthma
created_by: rgd
creation_date: 2016-08-18T00:00:00Z

[Term]
id: DOID:9000407
name: Wegener-Like Granulomatosis
xref: MESH:C566810
xref: RDO:0015052
is_a: DOID:12132 ! granulomatosis with polyangiitis

[Term]
id: DOID:9000408
name: Porokeratosis 3, Multiple Types
alt_id: MIM:175900
def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Multiple types of porokeratosis (POROK3) are caused by heterozygous mutation in the MVK gene on chromosome 12q24. (OMIM)" []
synonym: "disseminated superficial actinic porokeratosis 1" EXACT []
synonym: "DSAP1" EXACT []
synonym: "POROK3" EXACT []
xref: MESH:C536339
is_a: DOID:3805 ! porokeratosis

[Term]
id: DOID:9000409
name: Lopes-Maciel-Rodan Syndrome
alt_id: RDO:9001710
synonym: "LOMARS" EXACT []
xref: EFO:0009904
xref: MIM:617435
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2017-06-16T00:00:00Z

[Term]
id: DOID:9000410
name: Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula
alt_id: MIM:609345
xref: MESH:C563731
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:9000983 ! Encephalocele
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9000411
name: Porokeratosis 7, Multiple Types
def: "A rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Multiple types of porokeratosis (POROK7) are caused by heterozygous mutation in the MVD gene on chromosome 16q24. (OMIM)" []
synonym: "multiple types of porokeratosis 7" EXACT []
synonym: "POROK7" EXACT []
xref: MIM:614714
is_a: DOID:3805 ! porokeratosis

[Term]
id: DOID:9000412
name: Presenile and Senile Dementia
xref: MESH:C563254
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:9000413
name: Junctional Epidermolysis Bullosa 4, Intermediate
def: "An autosomal recessive, nonlethal skin disorder characterized by blistering and erosions at birth or shortly afterward. Caused by homozygous or compound heterozygous mutation in the COL17A1 gene on chromosome 10q25." [MIM:619787]
synonym: "COL17A1-RELATED CONDITION" BROAD []
synonym: "GABEB" EXACT []
synonym: "generalized atrophic benign epidermolysis bullosa" EXACT []
synonym: "JEB4" EXACT []
synonym: "Junctional Epidermolysis Bullosa 4, Non-Herlitz Type" EXACT []
synonym: "junctional epidermolysis bullosa, localisata variant" EXACT []
xref: MIM:619787
is_a: DOID:0060738 ! junctional epidermolysis bullosa non-Herlitz type
created_by: mtutaj
creation_date: 2022-06-07T11:25:02Z

[Term]
id: DOID:9000414
name: Horner Syndrome, Congenital
xref: MESH:C564178
xref: RDO:0013222
is_a: DOID:11486 ! Horner's syndrome

[Term]
id: DOID:9000415
name: Hemothorax
def: "Hemorrhage within the pleural cavity." [MESH:D006491]
xref: MESH:D006491
is_a: DOID:1532 ! pleural disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9000416
name: Ectodermal Dysplasia-Syndactyly Syndrome 2
synonym: "EDSS2" EXACT []
xref: MIM:613576
is_a: DOID:9000244 ! Ectodermal Dysplasia-Syndactyly Syndrome

[Term]
id: DOID:9000417
name: Glaucoma 1, Open Angle, P
def: "A hereditary, autosomal dominant form of glaucoma that is characterized by cupping of the optic nerve head and visual field defects but no increase in intraocular pressure. It primarily affects younger patients and is associated with a 300 kb duplication in the q region of chromosome 12 (12q14) (MESH)" []
synonym: "GLC1P" EXACT []
synonym: "pseudoglaucoma" EXACT []
xref: MESH:C566748
xref: MIM:177700
xref: MONDO:0008328
is_a: DOID:1070 ! primary open angle glaucoma
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9000418
name: heart-hand syndrome type 3
synonym: "atriodigital dysplasia type 3" EXACT []
synonym: "brachydactyly and intraventricular conduction defect" EXACT []
synonym: "cardiomelic syndrome type 3" EXACT []
synonym: "heart-hand syndrome, Spanish Type" EXACT []
synonym: "heart-limb syndrome type 3" EXACT []
synonym: "upper limb malformations and congenital cardiac anomalies" EXACT []
xref: GARD:2614
xref: MESH:C535853
xref: MIM:140450
xref: MONDO:0007702
xref: ORDO:1342
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0060468 ! Holt-Oram syndrome

[Term]
id: DOID:9000419
name: Benign Familial Neonatal Seizures, 1
alt_id: MIM:121200
alt_id: RDO:0015728
alt_id: RDO:0015787
synonym: "Benign Familial Neonatal Convulsions 1, and/or Myokymia" RELATED []
synonym: "benign familial neonatal seizures 1, and/or myokymia" RELATED []
synonym: "BFNS1" EXACT []
synonym: "CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME" RELATED []
synonym: "EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA" RELATED []
synonym: "KCNQ2-RELATED CONDITION" BROAD []
synonym: "SEIZURES, BENIGN FAMILIAL NEONATAL, 1" EXACT []
xref: MESH:C567744
is_a: DOID:14264 ! benign neonatal seizures
is_a: DOID:14777 ! benign familial neonatal epilepsy
is_a: DOID:9003935 ! Myokymia

[Term]
id: DOID:9000420
name: Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis
def: "Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development. SSASKS is caused by homozygous or compound heterozygous mutation in the SLC10A7 gene (611459) on chromosome 4q31. (OMIM)" []
synonym: "SSASKS" EXACT []
xref: MIM:618363
is_a: DOID:0060249 ! scoliosis
is_a: DOID:2187 ! amelogenesis imperfecta
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006257 ! Growth Disorders
created_by: gthayman
creation_date: 2019-03-20T00:00:00Z

[Term]
id: DOID:9000421
name: Erosive Arthropathy
alt_id: MIM:605935
xref: MESH:C565273
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9006836 ! Contracture
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000422
name: Chronic Hepatitis D
def: "INFLAMMATION of the LIVER in humans caused by HEPATITIS DELTA VIRUS in conjunction with HEPATITIS B VIRUS and lasting six months or more." [MESH:D019701]
synonym: "chronic delta hepatitides" EXACT []
synonym: "chronic delta hepatitis" EXACT []
xref: MESH:D019701
is_a: DOID:2047 ! hepatitis D
is_a: DOID:9008510 ! Chronic Hepatitis

[Term]
id: DOID:9000423
name: Aspermia
def: "A condition characterized by the complete absence of SEMEN. This disorder should be differentiated from AZOOSPERMIA, absence of sperm in the semen." [MESH:D053714]
xref: MESH:D053714
is_a: DOID:12336 ! male infertility

[Term]
id: DOID:9000425
name: Fronto-Facio-Nasal Dysplasia
alt_id: MIM:229400
synonym: "Fronto-facio-nasal dysostosis" EXACT []
synonym: "Frontofacionasal Dysostosis" EXACT []
synonym: "Frontofacionasal Dysplasia" EXACT []
xref: MESH:C538063
is_a: DOID:1934 ! dysostosis
is_a: DOID:9000983 ! Encephalocele
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:9008797 ! Facial Asymmetry

[Term]
id: DOID:9000426
name: XYY Karyotype
def: "Abnormal genetic constitution in males characterized by an extra Y chromosome." [MESH:D014997]
synonym: "XYY Karyotypes" EXACT []
xref: MESH:D014997
is_a: DOID:9003307 ! Sex Chromosome Aberrations
is_a: DOID:9003389 ! Abnormal Karyotype

[Term]
id: DOID:9000427
name: Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation
xref: MESH:C537424
is_a: DOID:1059 ! intellectual disability
is_a: DOID:83 ! cataract
is_a: DOID:9005367 ! Arachnodactyly

[Term]
id: DOID:9000428
name: Prostate Cancer, Hereditary, 7
alt_id: MIM:610321
synonym: "HPC7" EXACT []
synonym: "Prostate Cancer Aggressiveness" EXACT []
xref: MESH:C565201
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9000429
name: Nuclear Type Mitochondrial Complex I Deficiency 37
synonym: "MC1DN37" EXACT []
xref: MIM:619272
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2021-04-16T13:14:00Z

[Term]
id: DOID:9000430
name: Platelet-Type Bleeding Disorder 24
def: "An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. Caused by heterozygous mutation in the ITGA3 gene, which encodes platelet glycoprotein alpha-III, on chromosome 17q21.32." [MIM:619271]
synonym: "BDPLT24" EXACT []
synonym: "Glanzmann thrombasthenia-like with macrothrombocytopenia 2" EXACT []
xref: MIM:619271
is_a: DOID:2218 ! blood platelet disease
created_by: mtutaj
creation_date: 2021-04-14T14:31:01Z

[Term]
id: DOID:9000431
name: Mannose-Binding Protein Deficiency
alt_id: MIM:614372
synonym: "LCAPD1" EXACT []
synonym: "LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 1" EXACT []
synonym: "Mannose-Binding Lectin Deficiency" EXACT []
synonym: "Mannose-Binding Lectin Protein Deficiency" EXACT []
synonym: "MBL2 Deficiency" EXACT []
synonym: "MBLD" EXACT []
synonym: "MBL Deficiency" EXACT []
synonym: "MBP Deficiency" EXACT []
xref: MESH:C563602
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9002118 ! Lectin Complement Activation Pathway Defects

[Term]
id: DOID:9000432
name: Geniospasm
alt_id: MIM:190100
synonym: "Geniospasm 1" EXACT []
synonym: "GSM1" EXACT []
synonym: "Hereditary geniospasm" EXACT []
synonym: "Trembling chin" EXACT []
xref: MESH:C537682
is_a: DOID:9000495 ! Tremor
is_a: DOID:9003876 ! Jaw Diseases

[Term]
id: DOID:9000433
name: Idiopathic Copper Toxicosis
xref: MESH:C565846
is_a: DOID:5082 ! liver cirrhosis
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:9000434
name: Ray Peterson Scott Syndrome
synonym: "Pelvic dysplasia associated with arthrogrypotic changes in the lower extremities" EXACT []
synonym: "Pelvic hypoplasia, and arthrogrypotic changes in the lower limbs" EXACT []
xref: MESH:C535292
xref: RDO:0000315
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9002231 ! Fetal Growth Retardation

[Term]
id: DOID:9000435
name: Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears
alt_id: MIM:278200
synonym: "Salamon Syndrome" EXACT []
xref: MESH:C536746
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9000436
name: Urofacial Syndrome 2
synonym: "UFS2" EXACT []
xref: MIM:615112
is_a: DOID:0050816 ! urofacial syndrome

[Term]
id: DOID:9000437
name: Astley-Kendall Syndrome
synonym: "Astley-Kendall dysplasia" EXACT []
synonym: "Short limbed dwarfism with extensive stippling" EXACT []
xref: MESH:C535392
xref: RDO:0000488
is_a: DOID:12347 ! osteogenesis imperfecta
is_a: DOID:225 ! syndrome
is_a: DOID:2581 ! chondrodysplasia punctata
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9000438
name: Subarachnoid Hemorrhage
def: "Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status." [MESH:D013345]
synonym: "Aneurysmal Subarachnoid Hemorrhage" EXACT []
synonym: "Aneurysmal Subarachnoid Hemorrhages" EXACT []
synonym: "Intracranial Subarachnoid Hemorrhage" EXACT []
synonym: "Intracranial Subarachnoid Hemorrhages" EXACT []
synonym: "Perinatal Subarachnoid Hemorrhage" EXACT []
synonym: "Perinatal Subarachnoid Hemorrhages" EXACT []
synonym: "SAH (Subarachnoid Hemorrhage)" EXACT []
synonym: "SAHs (Subarachnoid Hemorrhage)" EXACT []
synonym: "Spontaneous Subarachnoid Hemorrhage" EXACT []
synonym: "Spontaneous Subarachnoid Hemorrhages" EXACT []
synonym: "Subarachnoid Hemorrhages" EXACT []
xref: EFO:0000713
xref: MESH:D013345
xref: NCI:C50757
is_a: DOID:9003104 ! Intracranial Hemorrhages

[Term]
id: DOID:9000439
name: Schizophrenia Spectrum and Other Psychotic Disorders
def: "Marked disorders of thought (delusions, hallucinations, or other thought disorder accompanied by disordered affect or behavior), and deterioration from a previous level of functioning. Individuals have one o more of the following symptoms: delusions, hallucinations, and disorganized speech. (from DSM-5)" [MESH:D019967]
synonym: "Schizophrenia and Disorders with Psychotic Features" EXACT []
xref: MESH:D019967
xref: RDO:0005104
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:9000440
name: Dens in Dente
def: "Anomaly of the tooth, found chiefly in upper lateral incisors. It is characterized by invagination of the enamel at the incisal edge." [MESH:D003719]
synonym: "Dens in Dentes" EXACT []
xref: MESH:D003719
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9000441
name: Butyrylcholinesterase Deficiency
alt_id: MIM:617936
synonym: "acylcholine acylhydrolase deficiency" EXACT []
synonym: "BCHE*FS126" RELATED []
synonym: "BCHE, Dibucaine-Resistant I" RELATED []
synonym: "BCHE, H VARIANT" RELATED []
synonym: "BCHE, J VARIANT" RELATED []
synonym: "BCHE QUANTITATIVE H VARIANT" RELATED []
synonym: "BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE 1" NARROW []
synonym: "Cholinesterase 2 Deficiency" EXACT []
synonym: "DEFICIENCY OF BUTYRYLCHOLINE ESTERASE" EXACT []
synonym: "postanesthetic apnea" EXACT []
synonym: "Pseudocholinesterase deficiency" EXACT []
synonym: "Pseudocholinesterase E1 deficiency" EXACT []
synonym: "succinylcholine sensitivity" EXACT []
synonym: "suxamethonium sensitivity" EXACT []
xref: MESH:C537417
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9004992 ! Apnea

[Term]
id: DOID:9000442
name: Familial Thoracic Aortic Aneurysm 10
synonym: "AAT10" EXACT []
synonym: "AORTIC ANEURYSM, FAMILIAL THORACIC 10" EXACT []
synonym: "LOX-RELATED CONDITION" EXACT []
synonym: "LOX-RELATED DISORDER" EXACT []
synonym: "LOX-RELATED DISORDERS" EXACT []
synonym: "thoracic aortic aneurysm-10" EXACT []
synonym: "thoracic aortic aneurysm with or without aortic dissection" EXACT []
xref: MIM:617168
is_a: DOID:14004 ! thoracic aortic aneurysm

[Term]
id: DOID:9000443
name: Intellectual Developmental Disorder with Autism and Macrocephaly
def: "Characterized by impaired intellectual development, a highly penetrant autism spectrum phenotype, and macrocephaly. Caused by heterozygous mutation in the CHD8 gene on chromosome 14q11." [MIM:615032]
synonym: "autism, susceptibility to, 18" RELATED []
synonym: "AUTS18" EXACT []
synonym: "CHD8-RELATED CONDITION" EXACT []
synonym: "IDDAM" EXACT []
xref: MIM:615032
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12849 ! autistic disorder
is_a: DOID:9003816 ! Macrocephaly
created_by: mtutaj
creation_date: 2022-05-11T16:09:15Z

[Term]
id: DOID:9000445
name: Azotemia
def: "A biochemical abnormality referring to an elevation of BLOOD UREA NITROGEN and CREATININE. Azotemia can be produced by KIDNEY DISEASES or other extrarenal disorders. When azotemia becomes associated with a constellation of clinical signs, it is termed UREMIA." [MESH:D053099]
xref: MESH:D053099
is_a: DOID:4676 ! uremia
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9000447
name: Systemic Autoinflammatory Disease with Vasculitis
def: "An autosomal dominant disorder that manifests soon after birth with features such as purpuric skin rash, fever, hepatosplenomegaly, and elevated C-reactive protein (CRP). Caused by heterozygous mutation in the LYN gene on chromosome 8q13." [MIM:620376]
synonym: "LAVLI syndrome" EXACT []
synonym: "LYN-RELATED CONDITION" EXACT []
synonym: "SAIDV" EXACT []
xref: MIM:620376
is_a: DOID:865 ! vasculitis
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: mtutaj
creation_date: 2023-05-30T14:58:18Z

[Term]
id: DOID:9000448
name: Hyperlipidemia, Combined, 2
alt_id: MIM:604499
synonym: "FCHL2" EXACT []
synonym: "Hyperlipidemia, Familial Combined, 2" EXACT []
synonym: "HYPLIP2" EXACT []
xref: MESH:C565766
is_a: DOID:13809 ! familial combined hyperlipidemia

[Term]
id: DOID:9000449
name: Foix-Chavany-Marie Syndrome
synonym: "anterior opercular syndrome" EXACT []
synonym: "bilateral anterior opercular syndrome" EXACT []
synonym: "congenital Foix-Chavany-Marie syndrome" EXACT []
synonym: "Facio-Labio-Pharyngo-Glosso-Laryngo-Brachial Paralysis" EXACT []
synonym: "Facio-Pharyngo-Glossal Diplegia with Automatic-Voluntary Movement Dissociation" EXACT []
synonym: "pseudobulbar paralysis, cortical type" EXACT []
xref: GARD:2351
xref: MESH:C537069
xref: MONDO:0023171
xref: ORDO:2048
is_a: DOID:13866 ! multiple cranial nerve palsy
is_a: DOID:13934 ! facial paralysis
is_a: DOID:225 ! syndrome
is_a: DOID:9000123 ! Deglutition Disorders
is_a: DOID:9001722 ! Dysarthria

[Term]
id: DOID:9000450
name: Daish Hardman Lamont Syndrome
alt_id: MIM:236660
synonym: "Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis" EXACT []
xref: MESH:C535770
is_a: DOID:0060249 ! scoliosis
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome
is_a: DOID:4667 ! kyphosis
is_a: DOID:9005077 ! Joint Instability
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9000451
name: Body Remains
def: "The physical entity of a deceased human or animal." [MESH:D000071298]
synonym: "Animal Remains" EXACT []
synonym: "Human Remains" EXACT []
synonym: "Skeletal Remains" EXACT []
xref: MESH:D000071298
is_a: DOID:9000543 ! Death

[Term]
id: DOID:9000452
name: Piriformis Muscle Syndrome
def: "A chronic PELVIC PAIN characterized by pain deep in the buttock that may radiate to posterior aspects of the leg. It is caused by the piriformis muscle compressing or irritating the SCIATIC NERVE due to trauma, hypertrophy, inflammation or anatomic variations." [MESH:D055958]
synonym: "Piriformis Muscle Syndromes" EXACT []
synonym: "Piriformis syndrome" EXACT []
synonym: "Piriformis syndromes" EXACT []
xref: MESH:D055958
is_a: DOID:11446 ! sciatic neuropathy
is_a: DOID:225 ! syndrome
is_a: DOID:573 ! nerve compression syndrome
is_a: DOID:9005968 ! Neuralgia
is_a: DOID:9008450 ! Pelvic Pain

[Term]
id: DOID:9000453
name: Chromosome 3 Duplication Syndrome
xref: MESH:C536803
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9000454
name: Methylmalonyl-CoA Epimerase Deficiency
alt_id: MIM:251120
synonym: "METHYLMALONIC ACIDURIA III" NARROW []
synonym: "METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY" NARROW []
synonym: "Methylmalonyl-CoA Racemase Deficiency" EXACT []
xref: MESH:C565386
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9000455
name: Mousa Al din Al Nassar Syndrome
alt_id: MIM:271320
synonym: "Bedouin spastic ataxia syndrome" EXACT []
synonym: "SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA" EXACT []
xref: MESH:C536989
is_a: DOID:11830 ! myopia
is_a: DOID:225 ! syndrome
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:83 ! cataract
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9277 ! primary cerebellar degeneration

[Term]
id: DOID:9000456
name: Dysgeusia
def: "A condition characterized by alterations of the sense of taste which may range from mild to severe, including gross distortions of taste quality." [MESH:D004408]
synonym: "Altered Taste" EXACT []
synonym: "Distorted Taste" EXACT []
synonym: "Dysgeusias" EXACT []
synonym: "Parageusia" EXACT []
synonym: "Parageusias" EXACT []
xref: MESH:D004408
is_a: DOID:9001661 ! Taste Disorders

[Term]
id: DOID:9000457
name: Germ Cell and Embryonal Neoplasms
def: "Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." [MESH:D009373]
synonym: "embryonal neoplasm" NARROW []
synonym: "Embryonal Neoplasms" NARROW []
synonym: "embryo neoplasm" NARROW []
synonym: "germ cell and embryonal neoplasm" EXACT []
synonym: "Germ Cell and Embryonic Neoplasms" EXACT []
synonym: "germ cell neoplasm" NARROW [CSP2005:2016-0850]
synonym: "Germ Cell Neoplasms" NARROW []
synonym: "Germ Cell Tumor" NARROW []
synonym: "Germ Cell Tumors" NARROW []
synonym: "germ cell tumour" NARROW [SNOMEDCT_2005_07_31:28307001]
synonym: "Neoplasms, Embryonal and Mixed" EXACT []
xref: MESH:D009373
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:9000458
name: Rickettsiaceae Infections
def: "Infections with bacteria of the family RICKETTSIACEAE." [MESH:D012288]
synonym: "Rickettsiaceae Infection" EXACT []
synonym: "Rickettsialpox" EXACT []
xref: EFO:1001128
xref: MESH:D012288
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9000459
name: Acholinesterasemia
xref: MESH:C566750
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9000460
name: Diaphragmatic Hernia 3
alt_id: MIM:610187
synonym: "DIH3" EXACT []
xref: MESH:C565710
is_a: DOID:3827 ! congenital diaphragmatic hernia

[Term]
id: DOID:9000461
name: Hutchinson's Melanotic Freckle
def: "A cellular subtype of malignant melanoma. It is a pigmented lesion composed of melanocytes occurring on sun-exposed skin, usually the face and neck. The melanocytes are commonly multinucleated with a 'starburst' appearance. It is considered by many to be the in situ phase of lentigo maligna melanoma." [MESH:D018327]
synonym: "Hutchinson Melanotic Freckle" EXACT []
synonym: "Hutchinsons Melanotic Freckle" EXACT []
synonym: "Lentigo Maligna" EXACT []
synonym: "Malignant Lentigo" EXACT []
synonym: "Malignant Lentigos" EXACT []
synonym: "Melanotic Freckle" EXACT []
synonym: "Melanotic Freckles" EXACT []
xref: MESH:D018327
xref: RDO:0007185
is_a: DOID:1909 ! melanoma

[Term]
id: DOID:9000462
name: Giant Axonal Neuropathy
alt_id: RDO:0007756
def: "Rare disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS)." [MESH:D056768]
synonym: "GAN" EXACT []
synonym: "Giant Axonal Neuropathy (GAN)" EXACT []
xref: MESH:D056768
xref: MIM:PS256850
xref: NCI:C84728
is_a: DOID:2477 ! motor peripheral neuropathy
is_a: DOID:7319 ! axonal neuropathy

[Term]
id: DOID:9000463
name: Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment
def: "An autosomal recessive disorder with onset in infancy. Patients show global developmental delay, particularly of speech acquisition, as well as walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Other features include seizures, mild dysmorphic features, and variable short stature." [MIM:618480]
synonym: "DHPS-RELATED CONDITION" EXACT []
synonym: "NEDSSWI" EXACT []
xref: MIM:618480
is_a: DOID:1826 ! epilepsy
is_a: DOID:9002563 ! Gait Ataxia
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005466 ! Language Development Disorders
created_by: slaulede
creation_date: 2019-08-06T10:12:19Z

[Term]
id: DOID:9000464
name: Desulfovibrionaceae Infections
def: "Infections with bacteria of the family Desulfovibrionaceae." [MESH:D045824]
synonym: "Bilophila Infection" EXACT []
synonym: "Bilophila Infections" EXACT []
synonym: "Desulfovibrio Infection" EXACT []
synonym: "Desulfovibrio Infections" EXACT []
synonym: "Desulfovibrionaceae Infection" EXACT []
synonym: "Lawsonia Infection" EXACT []
synonym: "Lawsonia Infections" EXACT []
xref: EFO:1000875
xref: MESH:D045824
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9000465
name: Coinfection
def: "Simultaneous infection of a host organism by two or more pathogens. In virology, coinfection commonly refers to simultaneous infection of a single cell by two or more different viruses." [MESH:D060085]
synonym: "Co infection" EXACT []
synonym: "Coinfections" EXACT []
synonym: "co-infections" EXACT []
synonym: "Mixed Infection" EXACT []
synonym: "Mixed Infections" EXACT []
synonym: "Polymicrobial Infection" EXACT []
synonym: "Polymicrobial Infections" EXACT []
synonym: "Secondary Infection" EXACT []
synonym: "secondary infections" EXACT []
xref: EFO:0010716
xref: MESH:D060085
is_a: DOID:1398 ! parasitic infectious disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9000466
name: Prostate Cancer, Somatic
def: "Tumors or cancer of the prostate caused by somatic mutations." []
xref: RDO:9000712
is_a: DOID:10283 ! prostate cancer

[Term]
id: DOID:9000467
name: Marden-Walker Syndrome
alt_id: MIM:248700
synonym: "Blepharophimosis, micrognathia, immobile facies, kyphoscoliosis, limb contractures, pigeon breast, and arachnodactyly" EXACT []
synonym: "Connective Tissue Disorder, Marden-Walker Type" EXACT []
synonym: "Generalized connective tissue syndrome" EXACT []
synonym: "MWKS" EXACT []
synonym: "MWS" EXACT []
xref: MESH:C535910
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:225 ! syndrome
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9005367 ! Arachnodactyly
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000468
name: Sucrosuria, Hiatus Hernia and Mental Retardation
alt_id: MIM:272000
synonym: "SUCROSURIA, HIATUS HERNIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT" EXACT []
xref: MESH:C564792
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12642 ! hiatus hernia

[Term]
id: DOID:9000469
name: Viral Myocarditis
def: "An uncommon inflammatory disorder of the myocardium caused by a virus." []
synonym: "chronic viral myocarditis" NARROW []
synonym: "CVMC" NARROW []
synonym: "VMC" EXACT []
is_a: DOID:820 ! myocarditis
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9000470
name: Echogenic Bowel
def: "A PRENATAL ULTRASONOGRAPHY finding of excessively dense fetal bowel due to MECONIUM buildup." [MESH:D058535]
synonym: "Echogenic Bowels" EXACT []
synonym: "Hyperechogenic Bowel" EXACT []
synonym: "Hyperechogenic Bowels" EXACT []
xref: MESH:D058535
is_a: DOID:9001984 ! Fetal Diseases

[Term]
id: DOID:9000471
name: Vibrio Vulnificus Infection
xref: MESH:C536348
is_a: DOID:9001564 ! Vibrio Infections

[Term]
id: DOID:9000472
name: Disproportionate Short Stature with Ptosis and Valvular Heart Lesions
alt_id: MIM:126190
xref: MESH:C565094
is_a: DOID:0060260 ! ptosis
is_a: DOID:4079 ! heart valve disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9000473
name: Familial Visceral Neuropathy
xref: MIM:PS243180
is_a: DOID:870 ! neuropathy
created_by: mtutaj
creation_date: 2022-10-11T07:50:51Z

[Term]
id: DOID:9000474
name: Hashimoto's Encephalitis
synonym: "Autoimmune encephalitis" EXACT []
synonym: "Hashimoto's encephalopathy" EXACT []
synonym: "Steroid-responsive encephalopathy associated with autoimmune thyroiditis" EXACT []
xref: MESH:C535841
is_a: DOID:9007355 ! Hashimoto Disease
is_a: DOID:9588 ! encephalitis

[Term]
id: DOID:9000475
name: REM Sleep Parasomnias
def: "Abnormal behavioral or physiologic events that are associated with REM sleep, including REM SLEEP BEHAVIOR DISORDER." [MESH:D020923]
synonym: "Rapid Eye Movement Sleep Parasomnias" EXACT []
synonym: "REM Sleep Parasomnia" EXACT []
synonym: "REM Sleep Related Sinus Arrest" EXACT []
synonym: "Sleep-Related Painful Erection" EXACT []
synonym: "Sleep Related Painful Erections" EXACT []
xref: MESH:D020923
is_a: DOID:9004040 ! Parasomnias

[Term]
id: DOID:9000476
name: Acrootoocular Syndrome
synonym: "pseudopapilledema-blepharophimosis-hand anomalies syndrome" EXACT []
synonym: "Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies" EXACT []
xref: GARD:4559
xref: MESH:C564866
xref: MIM:264475
xref: MONDO:0009920
xref: ORDO:2980
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9000477
name: Endocrine Tuberculosis
alt_id: RDO:0006761
def: "Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." [MESH:D014383]
synonym: "Endocrine Tuberculoses" EXACT []
xref: EFO:1000917
xref: MESH:D014383
is_a: DOID:28 ! endocrine system disease
is_a: DOID:399 ! tuberculosis

[Term]
id: DOID:9000478
name: Glaucoma 1, Open Angle, C
alt_id: MIM:601682
synonym: "GLC1C" EXACT []
synonym: "primary open angle glaucoma 1, C" EXACT []
xref: MESH:C566641
is_a: DOID:1070 ! primary open angle glaucoma

[Term]
id: DOID:9000481
name: Spinal Muscular Atrophy with Microcephaly and Mental Subnormality
alt_id: MIM:271110
xref: MESH:C564806
is_a: DOID:0060160 ! childhood spinal muscular atrophy
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly

[Term]
id: DOID:9000482
name: Tarlov Cysts
def: "Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself." [MESH:D052958]
synonym: "Perineural Cyst" EXACT []
synonym: "Perineural Cysts" EXACT []
synonym: "Perineurial Cyst" EXACT []
synonym: "Perineurial Cysts" EXACT []
synonym: "Sacral Perineural Cyst" EXACT []
synonym: "Sacral Perineural Cysts" EXACT []
synonym: "Sacral Tarlov Cysts" EXACT []
xref: EFO:1001858
xref: MESH:D052958
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9000483
name: Angina Pectoris
def: "The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION." [MESH:D000787]
synonym: "Angor Pectoris" EXACT []
synonym: "Stenocardia" EXACT []
synonym: "Stenocardias" EXACT []
xref: EFO:0003913
xref: MESH:D000787
is_a: DOID:9003674 ! Chest Pain
is_a: DOID:9007102 ! Myocardial Ischemia

[Term]
id: DOID:9000484
name: Consciousness Disorders
def: "Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition." [MESH:D003244]
synonym: "Altered Level of Consciousness" EXACT []
synonym: "Consciousness Disorder" EXACT []
synonym: "Consciousness, Level Altered" EXACT []
synonym: "Consciousness, Level Depressed" EXACT []
synonym: "Depressed Level of Consciousness" EXACT []
synonym: "Semiconsciousness" EXACT []
xref: MESH:D003244
is_a: DOID:1561 ! cognitive disorder
is_a: DOID:9002320 ! Neurobehavioral Manifestations

[Term]
id: DOID:9000485
name: Chromosome Xq21 Deletion Syndrome
synonym: "choroideremia, deafness, and mental retardation" EXACT []
synonym: "Xq21 deletion syndrome" EXACT []
xref: MIM:303110
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: mtutaj
creation_date: 2021-08-25T13:27:20Z

[Term]
id: DOID:9000486
name: Nanophthalmos 1
alt_id: MIM:600165
synonym: "Microphthalmos, Simple, Autosomal Dominant" EXACT []
synonym: "Nanophthalmia 1" EXACT []
synonym: "Nanophthalmos, Autosomal Dominant" EXACT []
synonym: "Nanophthalmos with High Hyperopia and Angle-Closure Glaucoma" EXACT []
synonym: "NNO1" EXACT []
xref: MESH:C563983
is_a: DOID:0080634 ! nanophthalmos
is_a: DOID:13550 ! angle-closure glaucoma
is_a: DOID:9834 ! hyperopia

[Term]
id: DOID:9000487
name: Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age
alt_id: MIM:602472
xref: MESH:C566543
is_a: DOID:9001487 ! Facies
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9000488
name: Progeria Syndrome, Childhood-Onset
synonym: "Hutchinson-Gilford progeria syndrome, childhood-onset" EXACT []
xref: MESH:C567661
is_a: DOID:3911 ! progeria

[Term]
id: DOID:9000489
name: Diffuse Axonal Injury
def: "A relatively common sequela of blunt head injury, characterized by a global disruption of axons throughout the brain. Associated clinical features may include NEUROBEHAVIORAL MANIFESTATIONS; PERSISTENT VEGETATIVE STATE; DEMENTIA; and other disorders." [MESH:D020833]
synonym: "DAI (Diffuse Axonal Injury)" EXACT []
synonym: "Diffuse Axonal Injuries" EXACT []
xref: MESH:D020833
is_a: DOID:9004442 ! Diffuse Brain Injuries

[Term]
id: DOID:9000490
name: Chromosome 18, Trisomy 18p
synonym: "Duplication 18p" EXACT []
synonym: "Trisomy 18p" EXACT []
xref: MESH:C538307
xref: MONDO:0015740
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9000492
name: Familial Isolated Hypoparathyroidism 1
synonym: "FIH1" EXACT []
xref: MIM:146200
is_a: DOID:0111387 ! familial isolated hypoparathyroidism
created_by: mtutaj
creation_date: 2020-05-15T11:15:51Z

[Term]
id: DOID:9000493
name: Menke-Hennekam Syndrome 2
def: "Menke-Hennekam syndrome-2 (MKHK2) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, and hearing impairment are also frequently seen. (OMIM)" []
synonym: "MKHK2" EXACT []
xref: EFO:0010253
xref: MIM:618333
is_a: DOID:9008706 ! Menke-Hennekam Syndrome
created_by: mtutaj
creation_date: 2019-02-25T12:23:39Z

[Term]
id: DOID:9000494
name: Santos Mateus Leal Syndrome
synonym: "Hirschsprung disease, deafness and polydactyly" EXACT []
xref: MESH:C537235
is_a: DOID:0060140 ! cortical deafness
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:1148 ! polydactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9003133 ! Hypertelorism

[Term]
id: DOID:9000495
name: Tremor
def: "Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE." [MESH:D014202]
synonym: "Action Tremor" EXACT []
synonym: "Action Tremors" EXACT []
synonym: "Coarse Tremor" EXACT []
synonym: "Coarse Tremors" EXACT []
synonym: "Continuous Tremor" EXACT []
synonym: "Continuous Tremors" EXACT []
synonym: "Darkness Tremor" EXACT []
synonym: "Darkness Tremors" EXACT []
synonym: "Fine Tremor" EXACT []
synonym: "Fine Tremors" EXACT []
synonym: "Intention Tremor" EXACT []
synonym: "Intention Tremors" EXACT []
synonym: "Intermittent Tremor" EXACT []
synonym: "Intermittent Tremors" EXACT []
synonym: "Involuntary Quiver" EXACT []
synonym: "Involuntary Quivers" EXACT []
synonym: "Limb Tremor" EXACT []
synonym: "Limb Tremors" EXACT []
synonym: "Massive Tremor" EXACT []
synonym: "Massive Tremors" EXACT []
synonym: "Muscle Tremor" EXACT []
synonym: "Muscle Tremors" EXACT []
synonym: "Neonatal Tremor" EXACT []
synonym: "Neonatal Tremors" EXACT []
synonym: "Nerve Tremor" EXACT []
synonym: "Nerve Tremors" EXACT []
synonym: "Passive Tremor" EXACT []
synonym: "Passive Tremors" EXACT []
synonym: "Perioral Tremor" EXACT []
synonym: "Perioral Tremors" EXACT []
synonym: "Persistent Tremor" EXACT []
synonym: "Persistent Tremors" EXACT []
synonym: "Pill Rolling Tremor" EXACT []
synonym: "Pill Rolling Tremors" EXACT []
synonym: "Resting Tremor" EXACT []
synonym: "Resting Tremors" EXACT []
synonym: "Rest Tremor" EXACT []
synonym: "Rest Tremors" EXACT []
synonym: "Saturnine Tremor" EXACT []
synonym: "Saturnine Tremors" EXACT []
synonym: "Semirhythmic Tremor" EXACT []
synonym: "Semirhythmic Tremors" EXACT []
synonym: "Senile Tremor" EXACT []
synonym: "Senile Tremors" EXACT []
synonym: "Static Tremor" EXACT []
synonym: "Static Tremors" EXACT []
synonym: "Tremors" EXACT []
xref: MESH:D014202
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9000496
name: Illusions
def: "The misinterpretation of a real external, sensory experience." [MESH:D007088]
synonym: "Auditory Illusion" EXACT []
synonym: "Auditory Illusions" EXACT []
synonym: "Autokinetic Effect" EXACT []
synonym: "Autokinetic Effects" EXACT []
synonym: "Autokinetic Illusion" EXACT []
synonym: "Autokinetic Illusions" EXACT []
synonym: "Illusion" EXACT []
synonym: "Kinesthetic Illusion" EXACT []
synonym: "Kinesthetic Illusions" EXACT []
synonym: "Tactile Illusion" EXACT []
synonym: "Tactile Illusions" EXACT []
synonym: "Visual Illusion" EXACT []
synonym: "Visual Illusions" EXACT []
xref: MESH:D007088
is_a: DOID:9004523 ! Perceptual Disorders

[Term]
id: DOID:9000497
name: Dilated Cardiomyopathy with Left Ventricular Noncompaction
synonym: "Left ventricular noncompaction cardiomyopathy" EXACT []
xref: MESH:C565277
is_a: DOID:0060480 ! left ventricular noncompaction
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:9000498
name: Emaciation
def: "Clinical manifestation of excessive LEANNESS usually caused by disease or a lack of nutrition (MALNUTRITION)." [MESH:D004614]
synonym: "Emaciations" EXACT []
xref: MESH:D004614
is_a: DOID:9001981 ! Weight Loss

[Term]
id: DOID:9000499
name: Alcoholic Intoxication
def: "An acute brain syndrome which results from the excessive ingestion of ETHANOL or ALCOHOLIC BEVERAGES." [MESH:D000435]
synonym: "Drunkenness" EXACT []
synonym: "Drunkennesses" EXACT []
xref: MESH:D000435
is_a: DOID:9004354 ! Alcohol-Related Disorders

[Term]
id: DOID:9000501
name: Torovirus Infections
def: "Infections with viruses of the genus TOROVIRUS, family CORONAVIRIDAE." [MESH:D018176]
synonym: "Torovirus Infection" EXACT []
synonym: "Torovirus infectious disease" EXACT []
xref: EFO:0007514
xref: MESH:D018176
is_a: DOID:9001645 ! Coronaviridae Infections

[Term]
id: DOID:9000502
name: DK Phocomelia Syndrome
alt_id: MIM:223340
synonym: "Phocomelia, Thrombocytopenia, Encephalocele, Urogenital Malformations" EXACT []
synonym: "Von Voss-Cherstvoy Syndrome" EXACT []
xref: MESH:C565618
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:225 ! syndrome
is_a: DOID:9000545 ! Ectromelia
is_a: DOID:9000983 ! Encephalocele
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000503
name: Nasal Obstruction
def: "Any hindrance to the passage of air into and out of the nose. The obstruction may be unilateral or bilateral, and may involve any part of the NASAL CAVITY." [MESH:D015508]
synonym: "Bilateral Nasal Obstruction" EXACT []
synonym: "Nasal Airway Obstruction" EXACT []
synonym: "Nasal Blockage" EXACT []
synonym: "Nasal Blockages" EXACT []
synonym: "Nasal Obstructions" EXACT []
synonym: "Unilateral Nasal Obstruction" EXACT []
xref: MESH:D015508
is_a: DOID:2825 ! nose disease
is_a: DOID:9005700 ! Airway Obstruction

[Term]
id: DOID:9000504
name: Beta-Amino Acids, Renal Transport of
synonym: "AABT" EXACT []
synonym: "TAURINE RENAL REABSORPTION" EXACT []
xref: MIM:109660
xref: RDO:0007892
is_a: DOID:14250 ! Down syndrome
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:9000505
name: Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies
def: "An autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. (OMIM)" []
synonym: "IDDFSDA" EXACT []
synonym: "OTUD6B-RELATED CONDITION" EXACT []
xref: MIM:617452
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:9001487 ! Facies
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000506
name: Lactate Dehydrogenase Deficiency
synonym: "ABNORMAL LACTATE DEHYDROGENASE LEVEL" BROAD []
synonym: "Deficiency of Lactate Dehydrogenase" EXACT []
synonym: "Lactate Dehydrogenase Subunit Deficiencies" EXACT []
synonym: "Ldh Deficiency" EXACT []
xref: MESH:C580233
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:9000507
name: Sacral Hemangiomas Multiple Congenital Abnormalities
xref: MESH:C537222
xref: RDO:0003012
is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome

[Term]
id: DOID:9000508
name: Isolated Microphthalmia with Cataract 3
synonym: "congenital cataract with microcornea and microphthalmia" EXACT []
synonym: "MCOPCT3" EXACT []
synonym: "microphthalmia and cataract 3" EXACT []
xref: MESH:C564452
is_a: DOID:0080637 ! isolated microphthalmia
is_a: DOID:83 ! cataract

[Term]
id: DOID:9000510
name: Leigh Syndrome due to Mitochondrial Complex II Deficiency
xref: MESH:C564961
is_a: DOID:3652 ! Leigh disease

[Term]
id: DOID:9000511
name: Senior-Loken Syndrome 4
synonym: "SLSN4" EXACT []
xref: MESH:C537581
xref: MIM:606996
xref: MONDO:0011756
is_a: DOID:0050576 ! Senior-Loken syndrome
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:9000512
name: Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination
def: "NEDMEHM is caused by compound heterozygous mutation in the MTHFS gene on chromosome 15q25. (OMIM)" []
synonym: "MTHFS-RELATED CONDITION" EXACT []
synonym: "NEDMEHM" EXACT []
xref: MIM:618367
xref: MONDO:0032705
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases
created_by: gthayman
creation_date: 2019-03-28T15:19:30Z

[Term]
id: DOID:9000514
name: Atrial Premature Complexes
def: "A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. The ectopic signals may or may not conduct to the HEART VENTRICLES. Atrial premature complexes are characterized by premature P waves on ECG which are different in configuration from the P waves generated by the normal pacemaker complex in the SINOATRIAL NODE." [MESH:D018880]
synonym: "Atrial Ectopic Beat" EXACT []
synonym: "Atrial Ectopic Beats" EXACT []
synonym: "Atrial Extrasystole" EXACT []
synonym: "Atrial Extrasystoles" EXACT []
synonym: "Atrial Premature Complex" EXACT []
synonym: "Atrial Premature Complices" EXACT []
synonym: "Premature Atrial Beat" EXACT []
synonym: "Premature Atrial Beats" EXACT []
synonym: "Premature Atrial Contraction" EXACT []
synonym: "Premature Atrial Contractions" EXACT []
synonym: "Premature Supraventricular Beat" EXACT []
synonym: "Premature Supraventricular Beats" EXACT []
synonym: "supraventricular ectopy" EXACT []
xref: EFO:0009277
xref: MESH:D018880
xref: RDO:0007240
is_a: DOID:9002737 ! Premature Cardiac Complexes

[Term]
id: DOID:9000515
name: Ichthyosis, Spastic Quadriplegia, and Mental Retardation
synonym: "Ichthyosis, spastic quadriplegia, and impaired intellectual development" EXACT []
synonym: "ISQMR" EXACT []
xref: MIM:614457
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12835 ! quadriplegia
is_a: DOID:1697 ! ichthyosis

[Term]
id: DOID:9000516
name: Lachiewicz Sibley Syndrome
synonym: "Hereditary renal disease and preauricular pits" EXACT []
xref: MESH:C538131
is_a: DOID:225 ! syndrome
is_a: DOID:2742 ! auditory system disease
is_a: DOID:557 ! kidney disease
is_a: DOID:9007343 ! Fistula

[Term]
id: DOID:9000517
name: Proteus Infections
def: "Infections with bacteria of the genus PROTEUS." [MESH:D011512]
synonym: "Proteus Infection" EXACT []
synonym: "Proteus infectious disease" EXACT []
xref: EFO:1001130
xref: MESH:D011512
is_a: DOID:9003491 ! Enterobacteriaceae Infections

[Term]
id: DOID:9000518
name: Parasitemia
def: "The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)" [MESH:D018512]
synonym: "parasitemias" EXACT []
xref: MESH:D018512
is_a: DOID:1398 ! parasitic infectious disease
is_a: DOID:9004484 ! Sepsis

[Term]
id: DOID:9000519
name: Chromosome 6, Trisomy 6q
synonym: "Duplication 6q" EXACT []
synonym: "Trisomy 6q" EXACT []
xref: MESH:C537812
xref: RDO:0003716
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9000520
name: Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
alt_id: MIM:261650
synonym: "PCK2 deficiency" EXACT []
synonym: "PCK2-RELATED CONDITION" EXACT []
synonym: "PCK2-RELATED NEUROPATHY" NARROW []
synonym: "PEPCK2 deficiency" EXACT []
synonym: "Phosphoenolpyruvate Carboxykinase 2 Deficiency" EXACT []
xref: MESH:C564890
is_a: DOID:3649 ! pyruvate decarboxylase deficiency
is_a: DOID:9003263 ! Phosphoenolpyruvate Carboxykinase Deficiency

[Term]
id: DOID:9000522
name: Invasive Candidiasis
def: "An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement." [MESH:D058365]
synonym: "Invasive Candidiases" EXACT []
xref: EFO:1001283
xref: MESH:D058365
is_a: DOID:1508 ! candidiasis
is_a: DOID:9006058 ! Invasive Fungal Infections

[Term]
id: DOID:9000523
name: Generalized Epidermolysis Bullosa Simplex 1B
synonym: "EBS1B" EXACT []
synonym: "Epidermolysis Bullosa Simplex Kobner" EXACT []
synonym: "Epidermolysis Bullosa Simplex, Koebner Type" EXACT []
synonym: "generalized intermediate epidermolysis bullosa simplex 1B" EXACT []
xref: MIM:131900
is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type
created_by: mtutaj
creation_date: 2021-10-27T16:14:38Z

[Term]
id: DOID:9000524
name: Generalized Arterial Calcification of Infancy, 2
synonym: "GACI2" EXACT []
xref: MIM:614473
xref: MONDO:0013768
is_a: DOID:0050644 ! arterial calcification of infancy

[Term]
id: DOID:9000525
name: Congenital Myopathy 11
def: "An autosomal recessive skeletal muscle disorder characterized clinically by severe hypotonia apparent at birth, resulting in early feeding problems, motor delay, and walking difficulties. Caused by homozygous or compound heterozygous mutation in the HACD1 gene on chromosome 10p12." [MIM:619967]
synonym: "CMYO11" EXACT []
synonym: "CMYP11" EXACT []
synonym: "MYONP" EXACT []
synonym: "Nonprogressive Congenital Myopathy" EXACT []
xref: MIM:619967
xref: MONDO:0859264
is_a: DOID:0081337 ! congenital myopathy
created_by: mtutaj
creation_date: 2022-07-27T14:16:51Z

[Term]
id: DOID:9000526
name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
def: "This disease is characterized by global developmental delay apparent from early childhood with intellectual disability." [MIM:619475]
synonym: "DDISBA" EXACT []
synonym: "SPTBN1-RELATED CONDITION" EXACT []
xref: MIM:619475
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:92 ! speech disorder
created_by: slaulede
creation_date: 2021-10-18T14:18:18Z

[Term]
id: DOID:9000527
name: Tracheal Agenesis
synonym: "Congenital tracheal agenesis" EXACT []
synonym: "Congenital tracheal stenosis" EXACT []
xref: MESH:C536975
is_a: DOID:9001627 ! Pathologic Constriction

[Term]
id: DOID:9000528
name: Coronary Disease
alt_id: MIM:300464
alt_id: MIM:607339
alt_id: MIM:608316
alt_id: MIM:608318
alt_id: MIM:608901
alt_id: MIM:610938
alt_id: MIM:611139
alt_id: MIM:612030
alt_id: MIM:614466
def: "An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels." [MESH:D003327]
synonym: "CHD" EXACT []
synonym: "CHDS1" RELATED []
synonym: "CHDS2" RELATED []
synonym: "CHDS3" RELATED []
synonym: "CHDS4" RELATED []
synonym: "CHDS5" RELATED []
synonym: "CHDS6" RELATED []
synonym: "CHDS7" RELATED []
synonym: "CHDS8" RELATED []
synonym: "CHDS9" RELATED []
synonym: "chronic coronary heart disease" NARROW []
synonym: "CORONARY ARTERY DISEASE, EARLY-ONSET" NARROW []
synonym: "Coronary artery disease, susceptibility to" RELATED []
synonym: "Coronary Diseases" EXACT []
synonym: "coronary heart disease" EXACT []
synonym: "Coronary heart disease in familial hypercholesterolemia, protection against" RELATED []
synonym: "coronary heart diseases" EXACT []
synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1" RELATED []
synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2" RELATED []
synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3" RELATED []
synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4" RELATED []
synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5" RELATED []
synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6" RELATED []
synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7" RELATED []
synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8" RELATED []
synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9" RELATED []
synonym: "THREE VESSEL CORONARY DISEASE" NARROW []
xref: MESH:D003327
is_a: DOID:9007102 ! Myocardial Ischemia

[Term]
id: DOID:9000529
name: Humeral Fractures
def: "Fractures of the HUMERUS." [MESH:D006810]
synonym: "Humeral Fracture" EXACT []
xref: EFO:0003943
xref: MESH:D006810
xref: RDO:0005818
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9003309 ! Arm Injuries

[Term]
id: DOID:9000530
name: ENDOVE SYNDROME, LIMB-BRAIN TYPE
def: "This is a disease characterized by marked mesomelic shortening of the lower limbs due to severe hypoplasia of the tibia and fibula. The talus is absent and foot bones are rudimentary. Hands have four short, malformed fingers, and nails are absent on some fingers. In addition, there is cerebellar aplasia with hypoplasia of the brain stem." [MIM:619218]
synonym: "EN1 SYNDROME" EXACT []
synonym: "ENDOVESLB" EXACT []
synonym: "Limb-brain ENDOVE syndrome" EXACT []
synonym: "MESOMELIA OF LOWER EXTREMITIES WITH HAND, FOOT, AND BRAIN ANOMALIES" EXACT []
synonym: "MLEHFB" EXACT []
xref: MIM:619218
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006294 ! Congenital Limb Deformities
created_by: slaulede
creation_date: 2021-04-08T12:01:30Z

[Term]
id: DOID:9000531
name: Chromosome 18, Trisomy 18q
def: "Duplication of the long (q) arm of chromosome 18. Affected children may have various abnormalities that include intra-uterine growth retardation, craniofacial abnormalities, heart malformations; and psychomotor delay." [MESH:C538308]
synonym: "Duplication 18q" EXACT []
synonym: "Trisomy 18q" EXACT []
xref: MESH:C538308
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9000533
name: Chronic Motor Tics
xref: MESH:C563241
is_a: DOID:11119 ! Gilles de la Tourette syndrome

[Term]
id: DOID:9000535
name: Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2
synonym: "HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2/ENTEROPATHY SYNDROME" EXACT []
synonym: "PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE" EXACT []
synonym: "PDP, AUTOSOMAL RECESSIVE" EXACT []
synonym: "PHOAR2" EXACT []
synonym: "PHOAR2E" EXACT []
synonym: "PHOAR2-ENTEROPATHY SYNDROME" EXACT []
xref: MIM:614441
is_a: DOID:14283 ! primary hypertrophic osteoarthropathy

[Term]
id: DOID:9000538
name: EPSTEIN-BARR VIRUS INSERTION SITE 1
synonym: "EBVS1" EXACT []
synonym: "EPSTEIN-BARR VIRUS INTEGRATION SITE" EXACT []
xref: MIM:132850
xref: RDO:0007978

[Term]
id: DOID:9000539
name: Cleft Palate, Proliferative Retinopathy, and Developmental Delay
synonym: "CPPRDD" EXACT []
xref: MIM:619074
is_a: DOID:13207 ! proliferative diabetic retinopathy
is_a: DOID:674 ! cleft palate
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2020-11-02T09:37:00Z

[Term]
id: DOID:9000540
name: HIV Wasting Syndrome
def: "Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than HIV infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611)." [MESH:D019247]
synonym: "AIDS Wasting Syndrome" EXACT []
synonym: "HIV Wasting Disease" EXACT []
synonym: "Slim Disease" EXACT []
xref: EFO:0007312
xref: MESH:D019247
is_a: DOID:225 ! syndrome
is_a: DOID:526 ! human immunodeficiency virus infectious disease
is_a: DOID:9001726 ! Wasting Syndrome

[Term]
id: DOID:9000541
name: Chondrodysplasia Calcificans Metaphysealis
alt_id: MIM:215050
xref: MESH:C565855
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9000542
name: Animal Lameness
def: "A departure from the normal gait in animals." [MESH:D007794]
synonym: "Animal gait disorder" EXACT []
synonym: "Animal gait disorders" EXACT []
synonym: "Animal lamenesses" EXACT []
xref: MESH:D007794
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9000543
name: Death
def: "Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions." [MESH:D003643]
synonym: "Cardiac Death" NARROW []
synonym: "death by undetermined cause" NARROW []
synonym: "death from disease" NARROW []
synonym: "DEATH IN EARLY ADULTHOOD" NARROW []
synonym: "Determination of Death" RELATED []
synonym: "Near-Death Experience" RELATED []
xref: EFO:0009434
xref: EFO:0030050
xref: EFO:0030051
xref: MESH:D003643
xref: RDO:0004928
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9000544
name: Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis
alt_id: MIM:600907
xref: MESH:C563430
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:693 ! dental enamel hypoplasia
is_a: DOID:83 ! cataract

[Term]
id: DOID:9000545
name: Ectromelia
def: "Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia." [MESH:D004480]
synonym: "Amelia" EXACT []
synonym: "Fused Legs and Feet" EXACT []
synonym: "Hemimelia" EXACT []
synonym: "Mermaid Malformation" EXACT []
synonym: "Mermaid Syndrome" EXACT []
synonym: "Phocomelia" EXACT []
synonym: "Sirenomelia" EXACT []
synonym: "Sirenomelia Sequence" EXACT []
synonym: "sirenomelia sequences" EXACT []
synonym: "sirenomelus" EXACT []
xref: MESH:D004480
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9000547
name: CEBALID Syndrome
def: "A complex developmental disorder characterized by global developmental delay, variably impaired intellectual development, and craniofacial and structural brain abnormalities. Brain imaging shows crowding of the posterior fossa, including rhombencephalosynapsis (partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres), as well as perisylvian polymicrogyria and cerebellar hypoplasia/dysplasia." [MIM:618774]
synonym: "CEBALID" EXACT []
synonym: "craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development" EXACT []
synonym: "MCTT" EXACT []
synonym: "MN1 C-terminal truncation syndrome" EXACT []
synonym: "MN1-RELATED CONDITION" BROAD []
xref: MIM:618774
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: slaulede
creation_date: 2020-03-12T17:37:30Z

[Term]
id: DOID:9000548
name: Drug-induced Anemia
def: "A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin caused by the ingestion of some medication." []
synonym: "Anemia caused by medication" EXACT []
synonym: "Anemia due to medication" EXACT []
is_a: DOID:2355 ! anemia
created_by: rgd
creation_date: 2016-08-15T00:00:00Z

[Term]
id: DOID:9000549
name: Tetraploidy
def: "The presence of four sets of chromosomes. It is associated with ABNORMALITIES, MULTIPLE; and MISCARRAGES." [MESH:D057891]
synonym: "Tetraploid" EXACT []
synonym: "Tetraploidies" EXACT []
synonym: "Tetraploids" EXACT []
xref: MESH:D057891
is_a: DOID:9005779 ! Polyploidy

[Term]
id: DOID:9000550
name: Epidermolytic Hyperkeratosis, Late-Onset
xref: MESH:C566187
is_a: DOID:4603 ! epidermolytic hyperkeratosis

[Term]
id: DOID:9000551
name: Atrial Septal Defect Sinus Venosus
xref: MESH:C548009
is_a: DOID:1882 ! atrial heart septal defect

[Term]
id: DOID:9000552
name: Cap Myopathy
synonym: "Cap Disease" EXACT []
synonym: "Congenital Myopathy with Caps" EXACT []
xref: MESH:C579969
is_a: DOID:422 ! congenital structural myopathy

[Term]
id: DOID:9000554
name: Acute Cholinergic Dysautonomia
xref: MESH:C535672
xref: RDO:0000924
is_a: DOID:9003171 ! Primary Dysautonomias

[Term]
id: DOID:9000555
name: Vulvar Lichen Sclerosus
def: "Atrophy and shriveling of the SKIN of the VULVA that is characterized by the whitish LICHEN SCLEROSUS appearance, inflammation, and PRURITUS." [MESH:D007724]
synonym: "Kraurosis Vulvae" EXACT []
synonym: "Lichen Sclerosus of Vulva" EXACT []
synonym: "Vulva Lichen Sclerosus" EXACT []
xref: EFO:1000623
xref: MESH:D007724
xref: NCI:C27723
xref: RDO:0005941
is_a: DOID:2059 ! vulvar disease

[Term]
id: DOID:9000556
name: White Platelet Syndrome
xref: MESH:C536702
xref: RDO:0002358
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9000557
name: Thrombocytopenia 1
alt_id: MIM:313900
synonym: "THC" EXACT []
synonym: "THC1" EXACT []
synonym: "X-Linked Thrombocytopenia" EXACT []
synonym: "X-linked thrombocytopenia 1" EXACT []
synonym: "X-linked thrombocytopenia, intermittent" NARROW []
synonym: "XLT" EXACT []
xref: MESH:C564052
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:9000558
name: Mucinous Cystadenoma
def: "A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential." [MESH:D018291]
synonym: "Mucinous Cystadenomas" EXACT []
xref: EFO:1001048
xref: MESH:D018291
is_a: DOID:2634 ! cystadenoma

[Term]
id: DOID:9000559
name: Glyoxalase II Deficiency
alt_id: MIM:614033
synonym: "hydroxyacyl glutathione hydrolase deficiency" EXACT []
xref: MESH:C564215
is_a: DOID:2373 ! hereditary elliptocytosis
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9000562
name: Male Pseudohermaphroditism due to Defective LH Molecule
alt_id: MIM:152780
synonym: "Male Pseudohermaphroditism due to Defective LH" EXACT []
xref: MESH:C535692
xref: RDO:0000951
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development

[Term]
id: DOID:9000563
name: FLOTCH Syndrome
synonym: "Friedel Heid Grosshans syndrome" EXACT []
xref: MESH:C537065
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:225 ! syndrome
is_a: DOID:4123 ! nail disease
is_a: DOID:421 ! hair disease
is_a: DOID:5679 ! retinal disease
is_a: DOID:9005841 ! Epidermal Cyst
is_a: DOID:9423 ! blepharitis

[Term]
id: DOID:9000564
name: Prehypertension
def: "Blood pressure levels that are between normotension and hypertension. Individuals with prehypertension are at a higher risk for developing cardiovascular diseases. Generally, prehypertension is defined as SYSTOLIC PRESSURE of 131-139 mm Hg and/or DIASTOLIC PRESSURE of 81-89 when the optimal is 120/80 mm Hg. For diabetics and other metabolism diseases the prehypertension is around 110-129/70-79 mm Hg." [MESH:D058246]
synonym: "Pre Hypertension" EXACT []
synonym: "Pre-Hypertensions" EXACT []
synonym: "Prehypertensions" EXACT []
xref: MESH:D058246
is_a: DOID:0050828 ! artery disease

[Term]
id: DOID:9000565
name: Stargardt Disease 4
alt_id: MIM:603786
synonym: "Stargardt disease, dominant" BROAD []
synonym: "STGD4" EXACT []
xref: MESH:C535521
is_a: DOID:0050817 ! Stargardt disease

[Term]
id: DOID:9000566
name: Bifid Nose with or without Anorectal and Renal Anomalies
alt_id: MIM:608980
synonym: "BNAR" EXACT []
xref: MESH:C567672
is_a: DOID:1285 ! rectal disease
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9000567
name: Hypercalciuric Hypercalcemia
xref: MESH:C563373
xref: RDO:0012647
is_a: DOID:12678 ! hypercalcemia

[Term]
id: DOID:9000568
name: Analbuminemia
def: "A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin." []
synonym: "ANALBA" EXACT []
synonym: "analbuminemia, American Indian type" NARROW []
synonym: "analbuminemia Baghdad" NARROW []
synonym: "analbuminemia Roma" NARROW []
xref: MIM:616000
xref: NCI:C124851
is_a: DOID:9007271 ! Hypoalbuminemia
created_by: rgd
creation_date: 2016-06-08T00:00:00Z

[Term]
id: DOID:9000569
name: Neonatal Self-Limited Primary Hyperparathyroidism with Hypercalciuria
alt_id: MIM:239199
xref: MESH:C565496
is_a: DOID:11202 ! primary hyperparathyroidism

[Term]
id: DOID:9000570
name: Skin/Hair/Eye Pigmentation, Variation In, 3
synonym: "EYCL1" EXACT []
synonym: "EYE COLOR 1" EXACT []
synonym: "EYE COLOR, GREEN/BLUE" EXACT []
synonym: "GEY" EXACT []
synonym: "Melanoma, cutaneous malignant, susceptibility to, 8" NARROW []
synonym: "SHEP3" EXACT []
synonym: "SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYE COLOR" EXACT []
synonym: "SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING" EXACT []
synonym: "SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN" EXACT []
xref: MIM:601800
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:1909 ! melanoma
is_a: DOID:9001946 ! Skin Abnormalities
created_by: mtutaj
creation_date: 2022-12-06T10:10:45Z

[Term]
id: DOID:9000571
name: AIDS-Related Opportunistic Infections
def: "Opportunistic infections found in patients who test positive for human immunodeficiency virus (HIV). The most common include PNEUMOCYSTIS PNEUMONIA, Kaposi's sarcoma, cryptosporidiosis, herpes simplex, toxoplasmosis, cryptococcosis, and infections with Mycobacterium avium complex, Microsporidium, and Cytomegalovirus." [MESH:D017088]
synonym: "AIDS-Related Opportunistic Infection" EXACT []
synonym: "HIV-Related Opportunistic Infection" EXACT []
synonym: "HIV Related Opportunistic Infections" EXACT []
xref: MESH:D017088
xref: RDO:0007023
is_a: DOID:635 ! acquired immunodeficiency syndrome
is_a: DOID:9002002 ! Opportunistic Infections

[Term]
id: DOID:9000572
name: Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive
xref: MESH:C564948
xref: MIM:256840
xref: MONDO:0009748
is_a: DOID:2477 ! motor peripheral neuropathy

[Term]
id: DOID:9000574
name: Sao Paulo MCA/MR Syndrome
xref: MESH:C563119
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000575
name: Respiratory Signs and Symptoms
def: "Respiratory system manifestations of diseases of the respiratory tract or of other organs." [MESH:D012818]
xref: MESH:D012818
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9000576
name: Imperforate Hymen
alt_id: MIM:237100
xref: MESH:C562397
is_a: DOID:9004918 ! Menstruation Disturbances

[Term]
id: DOID:9000577
name: Bronchopulmonary Sequestration
def: "A developmental anomaly in which a mass of nonfunctioning lung tissue lacks normal connection with the tracheobroncheal tree and receives an anomalous blood supply originating from the descending thoracic or abdominal aorta. The mass may be extralobar, i.e., completely separated from normally connected lung, or intralobar, i.e., partly surrounded by normal lung." [MESH:D001998]
synonym: "Bronchopulmonary Sequestrations" EXACT []
synonym: "Pulmonary Sequestration" EXACT []
synonym: "Pulmonary Sequestrations" EXACT []
xref: MESH:D001998
xref: RDO:0005075
is_a: DOID:9007870 ! Respiratory System Abnormalities

[Term]
id: DOID:9000578
name: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE
def: "An autosomal recessive neurologic disorder characterized by onset of severe and progressive motor dysfunction in the first year of life. Affected individuals have severe axial hypotonia combined with spastic tetraplegia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement." [MIM:618598]
synonym: "progressive spastic tetraplegia and axial hypotonia" EXACT []
synonym: "SOD1 DEFICIENCY, AUTOSOMAL RECESSIVE" EXACT []
synonym: "STAHP" EXACT []
xref: EFO:0010567
xref: MIM:618598
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2019-10-11T11:40:28Z

[Term]
id: DOID:9000579
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY
def: "This disease is an autosomal recessive neurologic disorder characterized by global developmental delay with mildly impaired intellectual development apparent from infancy or early childhood. Affected individuals have hypotonia and delayed walking with an unsteady gait and frequent falls." [MIM:619844]
synonym: "IDDPN" EXACT []
xref: MIM:619844
is_a: DOID:1059 ! intellectual disability
is_a: DOID:574 ! peripheral nervous system disease
created_by: slaulede
creation_date: 2022-06-27T13:59:45Z

[Term]
id: DOID:9000580
name: Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
alt_id: MIM:203600
synonym: "Moynahan alopecia syndrome" EXACT []
xref: MESH:C537052
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9000581
name: Cantalamessa Baldini Ambrosi Syndrome
synonym: "Primary gonadal failure, short stature, mitral valve prolapse, and mental retardation" EXACT []
xref: MESH:C537981
xref: RDO:0003910
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:988 ! mitral valve prolapse

[Term]
id: DOID:9000582
name: Reticulocytosis
def: "An increase in circulating RETICULOCYTES, which is among the simplest and most reliable signs of accelerated ERYTHROCYTE production. Reticulocytosis occurs during active BLOOD regeneration (stimulation of red bone marrow) and in certain types of ANEMIA, particularly CONGENITAL HEMOLYTIC ANEMIA." [MESH:D045262]
synonym: "HEMOGLOBIN LAS PALMAS" RELATED []
synonym: "Reticulocytoses" EXACT []
xref: MESH:D045262
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9000583
name: Trigger Finger Disorder
alt_id: MIM:190410
def: "A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58)." [MESH:D052582]
synonym: "Flexor Tendon Entrapment" EXACT []
synonym: "flexor tendon entrapments" EXACT []
synonym: "Snapping Finger" EXACT []
synonym: "Snapping Fingers" EXACT []
synonym: "Trigger Digit" EXACT []
synonym: "Trigger Digits" EXACT []
synonym: "Trigger Thumb" EXACT []
synonym: "trigger thumbs" EXACT []
xref: MESH:D052582
is_a: DOID:9004608 ! Tendon Entrapment

[Term]
id: DOID:9000584
name: Onycholysis
def: "Separation of nail plate from the underlying nail bed. It can be a sign of skin disease, infection (such as ONYCHOMYCOSIS) or tissue injury." [MESH:D054039]
synonym: "Onycholyses" EXACT []
synonym: "Photo-onycholyses" EXACT []
synonym: "Photo onycholysis" EXACT []
xref: MESH:D054039
xref: RDO:0007644
is_a: DOID:4123 ! nail disease

[Term]
id: DOID:9000585
name: Intervertebral Disc Disease
alt_id: MIM:603932
synonym: "IDD" EXACT []
synonym: "intervertebral disc disease, susceptibility to" RELATED []
synonym: "LDD" NARROW []
synonym: "lumbar disc degeneration, susceptibility to" NARROW []
synonym: "LUMBAR DISC DISEASE" NARROW []
synonym: "lumbar disc herniation, susceptibility to" NARROW []
xref: EFO:1002005
xref: MESH:C535531
is_a: DOID:90 ! degenerative disc disease

[Term]
id: DOID:9000586
name: Vocal Cord Paralysis
def: "Congenital or acquired paralysis of one or both VOCAL CORDS. This condition is caused by defects in the CENTRAL NERVOUS SYSTEM, the VAGUS NERVE and branches of LARYNGEAL NERVES. Common symptoms are VOICE DISORDERS including HOARSENESS or APHONIA." [MESH:D014826]
synonym: "Acquired Vocal Cord Palsy" EXACT []
synonym: "Bilateral Vocal Cord Paresis" EXACT []
synonym: "Congenital Vocal Cord Palsy" EXACT []
synonym: "Laryngeal Paralyses" EXACT []
synonym: "Laryngeal Paralysis" EXACT []
synonym: "Partial Paralysis (Paresis) Vocal Cords" EXACT []
synonym: "Recurrent Laryngeal Nerve Palsy" EXACT []
synonym: "Total Vocal Cord Paralysis" EXACT []
synonym: "Unilateral Vocal Cord Paralysis" EXACT []
synonym: "Unilateral Vocal Cord Paresis" EXACT []
synonym: "Vocal Cord Palsies" EXACT []
synonym: "Vocal Cord Palsy" EXACT []
synonym: "Vocal Cord Paralyses" EXACT []
synonym: "Vocal Cord Pareses" EXACT []
synonym: "Vocal Cord Paresis" EXACT []
synonym: "Vocal Fold Palsies" EXACT []
synonym: "Vocal Fold Palsy" EXACT []
xref: MESH:D014826
is_a: DOID:12491 ! Vagus nerve disease
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9005246 ! Paralysis

[Term]
id: DOID:9000587
name: Microphthalmia Associated with Colobomatous Cyst
synonym: "Microphthalmos bilateral, colobomatous orbital cyst" EXACT []
xref: MESH:C537463
is_a: DOID:10629 ! microphthalmia
is_a: DOID:12270 ! coloboma
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9000588
name: Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy
xref: MIM:PS607250
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia
is_a: DOID:7319 ! axonal neuropathy
created_by: mtutaj
creation_date: 2019-05-01T12:26:04Z

[Term]
id: DOID:9000589
name: Immotile Cilia Syndrome, due to Defective Radial Spokes
alt_id: MIM:242670
synonym: "Ciliary Dyskinesia With Defective Radial Spokes" EXACT []
synonym: "Cilia with defective radial spokes" EXACT []
xref: MESH:C536286
is_a: DOID:9001591 ! Ciliary Motility Disorders

[Term]
id: DOID:9000590
name: Dyspnea
def: "Difficult or labored breathing." [MESH:D004417]
synonym: "Breathlessness" EXACT []
synonym: "Breathlessnesses" EXACT []
synonym: "Breath Shortness" EXACT []
synonym: "Breath Shortnesses" EXACT []
synonym: "Dyspneas" EXACT []
synonym: "Shortness of Breath" EXACT []
xref: EFO:0009727
xref: MESH:D004417
is_a: DOID:9000575 ! Respiratory Signs and Symptoms
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:9000591
name: Congenital Nongoitrous Hypothyroidism
synonym: "congenital hypothyroidism due to TSH resistance" EXACT []
synonym: "hypothyroidism due to unresponsiveness to thyrotropin" EXACT []
synonym: "resistance to thyroid-stimulating hormone" EXACT []
synonym: "resistance to thyrotropin" EXACT []
synonym: "RTSH" EXACT []
synonym: "thyrotropin resistance" EXACT []
synonym: "TSH resistance" EXACT []
xref: MESH:C000603735
is_a: DOID:0050328 ! congenital hypothyroidism

[Term]
id: DOID:9000594
name: Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1
def: "An X-linked syndromic disorder that is phenotypically more severe in males than females. Caused by hemizygous or heterozygous mutation in the DKC1 gene on chromosome Xq28." [MIM:301108]
synonym: "CHINE1" EXACT []
synonym: "DKC1-RELATED CONDITION" BROAD []
xref: MIM:301108
is_a: DOID:9007299 ! Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis
created_by: mtutaj
creation_date: 2023-07-07T12:33:21Z

[Term]
id: DOID:9000595
name: Lacerations
def: "Torn, ragged, mangled wounds." [MESH:D022125]
synonym: "Laceration" EXACT []
xref: MESH:D022125
xref: RDO:0007464
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9000596
name: Isolated Noncompaction of the Ventricular Myocardium
def: "Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." [MESH:D056830]
synonym: "Isolated Noncompaction of the Left Ventricular Myocardium, X-Linked" EXACT []
synonym: "Isolated Non-compaction of the Ventricular Myocardium" EXACT []
synonym: "Noncompaction of the Left Ventricular Myocardium, Autosomal Dominant" EXACT []
xref: EFO:1001802
xref: MESH:D056830
xref: RDO:0007762
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:12929 ! endocardial fibroelastosis
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000597
name: Hemolytic Poikilocytic Anemia due to Reduced Ankyrin Binding Sites
alt_id: MIM:141700
xref: MESH:C564197
is_a: DOID:583 ! hemolytic anemia

[Term]
id: DOID:9000598
name: Cranial Nerve Injuries
def: "Dysfunction of one or more cranial nerves causally related to a traumatic injury. Penetrating and nonpenetrating CRANIOCEREBRAL TRAUMA; NECK INJURIES; and trauma to the facial region are conditions associated with cranial nerve injuries." [MESH:D020209]
synonym: "Cranial Nerve Injury" EXACT []
synonym: "Traumatic Cranial Neuropathies" EXACT []
synonym: "Traumatic Cranial Neuropathy" EXACT []
xref: MESH:D020209
is_a: DOID:5656 ! cranial nerve disease
is_a: DOID:9007621 ! Craniocerebral Trauma

[Term]
id: DOID:9000599
name: Hyperbilirubinemia, Transient Familial Neonatal
alt_id: MIM:237900
synonym: "HBLRTFN" EXACT []
synonym: "LUCEY-DRISCOLL SYNDROME  BREAST MILK JAUNDICE" NARROW []
xref: MESH:C562692
xref: RDO:0012294
is_a: DOID:9002532 ! Neonatal Hyperbilirubinemia
is_a: DOID:9005094 ! Hereditary Hyperbilirubinemia

[Term]
id: DOID:9000600
name: Atresia of Small Intestine
synonym: "Congenital atresia of the small intestine" EXACT []
synonym: "Small intestine atresia" EXACT []
xref: MESH:C538260
is_a: DOID:10486 ! intestinal atresia

[Term]
id: DOID:9000601
name: Mental Fatigue
def: "A condition of low alertness or cognitive impairment, usually associated with prolonged mental activities or stress." [MESH:D005222]
xref: MESH:D005222
is_a: DOID:9006617 ! Fatigue

[Term]
id: DOID:9000602
name: Oocyte Maturation Defect 4
synonym: "Oocyte/zygote/embryo maturation arrest 4" EXACT []
synonym: "OOMD4" EXACT []
synonym: "OZEMA4" EXACT []
xref: MIM:617743
xref: NCI:C188145
is_a: DOID:9007456 ! Female Infertility
created_by: rgd
creation_date: 2017-12-06T00:00:00Z

[Term]
id: DOID:9000603
name: Cardiomyopathy Associated with Myopathy and Sudden Death
alt_id: MIM:212130
xref: MESH:C565881
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:9007820 ! Sudden Death

[Term]
id: DOID:9000604
name: Moderate Minicore Myopathy, with Hand Involvement
alt_id: RDO:0014591
synonym: "moderate multicore myopathy, with hand involvement" EXACT []
synonym: "moderate multiminicore disease, with hand involvement" EXACT []
xref: MESH:C566147
is_a: DOID:3529 ! congenital myopathy 1A

[Term]
id: DOID:9000605
name: Preleukemias
def: "Conditions in which the abnormalities in the peripheral blood or bone marrow represent the early manifestations of acute leukemia, but in which the changes are not of sufficient magnitude or specificity to permit a diagnosis of acute leukemia by the usual clinical criteria." [MESH:D011289]
synonym: "preleukemia" EXACT []
xref: MESH:D011289
is_a: DOID:0060071 ! pre-malignant neoplasm
is_a: DOID:74 ! hematopoietic system disease

[Term]
id: DOID:9000606
name: Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities
alt_id: MIM:608814
xref: MESH:C537879
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000607
name: Chromosome 1, Monosomy 1p31 p22
synonym: "Deletion 1p31 p22" EXACT []
synonym: "Monosomy 1p31 p22" EXACT []
xref: MESH:C535593
xref: RDO:0000811
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9000608
name: Viral Conjunctivitis
def: "Inflammation, often mild, of the conjunctiva caused by a variety of viral agents. Conjunctival involvement may be part of a systemic infection." [MESH:D003236]
synonym: "Viral Conjunctivitides" EXACT []
xref: EFO:0008571
xref: MESH:D003236
is_a: DOID:6195 ! conjunctivitis
is_a: DOID:9005295 ! Viral Eye Infections

[Term]
id: DOID:9000609
name: Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus
synonym: "ACPHD" EXACT []
xref: MIM:616192
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9000610
name: Obstetric Labor Complications
def: "Medical problems associated with OBSTETRIC LABOR, such as BREECH PRESENTATION; PREMATURE OBSTETRIC LABOR; HEMORRHAGE; or others. These complications can affect the well-being of the mother, the FETUS, or both." [MESH:D007744]
synonym: "Labor Complication" EXACT []
synonym: "Labor Complications" EXACT []
synonym: "Obstetric Labor Complication" EXACT []
xref: MESH:D007744
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9000612
name: Cardiac Allograft Vasculopathy
def: "Development of coronary artery disease in the arteries of the transplanted heart." []
synonym: "cardiac transplant vasculopathy" EXACT []
synonym: "CAV" EXACT []
synonym: "transplant coronary artery disease" EXACT []
is_a: DOID:3393 ! coronary artery disease
is_a: DOID:9002153 ! Chronic Allograft Dysfunction

[Term]
id: DOID:9000613
name: Hyaline Membrane Disease
alt_id: MESH:C566881
alt_id: MIM:267450
alt_id: RDO:0000286
alt_id: RDO:0015097
def: "A respiratory distress syndrome in newborn infants, usually premature infants with insufficient PULMONARY SURFACTANTS. The disease is characterized by the formation of a HYALINE-like membrane lining the terminal respiratory airspaces (PULMONARY ALVEOLI) and subsequent collapse of the lung (PULMONARY ATELECTASIS)." [MESH:D006819]
synonym: "Hyaline Membrane Diseases" EXACT []
synonym: "RDS of prematurity" EXACT []
synonym: "RESPIRATORY DISTRESS ASSOCIATED WITH PREMATURITY" EXACT []
synonym: "respiratory distress syndrome in premature infants" EXACT []
xref: MESH:D006819
is_a: DOID:12716 ! newborn respiratory distress syndrome

[Term]
id: DOID:9000614
name: upper tract urothelial carcinoma
def: "This is carcinoma that derives from transitional epithelial cells (urothelium) in the renal pelvis or ureters." [https://www.merriam-webster.com, UBERON:0000365]
synonym: "upper tract transitional cell carcinoma" EXACT []
synonym: "upper urinary tract urothelial carcinoma" EXACT []
is_a: DOID:2671 ! transitional cell carcinoma
is_a: DOID:3996 ! urinary system cancer
created_by: slaulede
creation_date: 2021-09-23T11:30:10Z

[Term]
id: DOID:9000615
name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES
def: "A syndromic disorder with multisystemic involvement. Affected individuals have severe global developmental delay with severely impaired intellectual development, poor or absent language, behavioral abnormalities, seizures, and sleep disturbances. Brain imaging shows dysgenesis of the corpus callosum and progressive cerebellar atrophy." [MIM:619103]
synonym: "NEDFASB" EXACT []
xref: MIM:619103
is_a: DOID:535 ! sleep disorder
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:936 ! brain disease
created_by: slaulede
creation_date: 2021-01-18T13:22:55Z

[Term]
id: DOID:9000616
name: Metaphyseal Anadysplasia 1
synonym: "MANDP1" EXACT []
synonym: "METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT" NARROW []
synonym: "Metaphyseal anadysplasia 1, autosomal recessive" NARROW []
xref: MESH:C567545
is_a: DOID:9001193 ! Metaphyseal Anadysplasia

[Term]
id: DOID:9000617
name: Myelocerebellar Disorder
alt_id: MIM:159550
synonym: "Ataxia-Pancytopenia Syndrome" EXACT []
synonym: "ATXPC" EXACT []
xref: MESH:C563233
xref: NCI:C176909
xref: RDO:0012567
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:12450 ! pancytopenia

[Term]
id: DOID:9000618
name: Surgical Shock
def: "A type of shock that occurs as a result of a surgical procedure." [MESH:D012773]
synonym: "Surgical Shocks" EXACT []
xref: EFO:0007686
xref: MESH:D012773
is_a: DOID:9000790 ! Postoperative Complications
is_a: DOID:9002549 ! Shock

[Term]
id: DOID:9000619
name: Uncombable Hair Syndrome 1
def: "Characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. caused by homozygous or compound heterozygous mutation in the PADI3 gene on chromosome 1p36." [MIM:191480]
synonym: "PADI3-RELATED CONDITION" EXACT []
synonym: "UHS1" EXACT []
xref: MIM:191480
is_a: DOID:9005997 ! Uncombable Hair Syndrome
created_by: mtutaj
creation_date: 2022-05-31T07:52:13Z

[Term]
id: DOID:9000620
name: Bleeding Disorder Due To P2rx1 Defect
xref: MESH:C576084
xref: RDO:0015782
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9000621
name: Generalized Epidermolysis Bullosa Simplex 2D
def: "This disease is characterized by widespread intraepidermal skin blistering and erosions from birth." [MIM:619599]
synonym: "autosomal recessive generalized intermediate or severe epidermolysis bullosa simplex 2D" EXACT []
synonym: "EBS2D" EXACT []
synonym: "EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE" NARROW []
xref: MIM:619599
is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type
created_by: mtutaj
creation_date: 2021-11-03T12:32:16Z

[Term]
id: DOID:9000622
name: Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1
synonym: "CRANIOOSTEOARTHROPATHY" RELATED []
synonym: "CURRARINO IDIOPATHIC OSTEOARTHROPATHY" RELATED []
synonym: "FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD" RELATED []
synonym: "PDP, Autosomal Recessive" EXACT []
synonym: "PHOAR1" EXACT []
synonym: "PHO, Autosomal Recessive" EXACT []
xref: MIM:259100
is_a: DOID:14283 ! primary hypertrophic osteoarthropathy

[Term]
id: DOID:9000623
name: panic disorder with agoraphobia
def: "This is a disorder in which an individual experiences recurrent, unexpected panic attacks, persistent concern about having additional panic attacks, and agoraphobia." [NCI:C97194]
xref: EFO:0009509
is_a: DOID:594 ! panic disorder
created_by: slaulede
creation_date: 2023-01-13T11:00:50Z

[Term]
id: DOID:9000624
name: Charcot-Marie-Tooth Disease Type 1I
def: "A neurologic disorder characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. Caused by heterozygous mutation in the POLR3B gene on chromosome 12q23." [MIM:619742]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1I" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, type 1I" EXACT []
synonym: "CMT1I" EXACT []
xref: MIM:619742
is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1
created_by: mtutaj
creation_date: 2022-02-15T16:15:57Z

[Term]
id: DOID:9000625
name: Nonseminomatous Germ Cell Tumor
synonym: "Non-seminomatous germ-cell tumors" EXACT []
xref: MESH:C537844
is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms
is_a: DOID:9004207 ! Testicular Neoplasms

[Term]
id: DOID:9000626
name: Familial Laryngeal Web
alt_id: MIM:150360
synonym: "Congenital Anterior Glottic Web" EXACT []
synonym: "Subglottic Bar" EXACT []
synonym: "Subglottic Web" EXACT []
xref: MESH:C563636
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9000627
name: hemorrhagic stroke
def: "This is an acute episode of focal or global cerebral or spinal dysfunction caused by intraparenchymal, intraventricular, or subarachnoid hemorrhage." [NCI:C95803]
synonym: "Hemorrhagic Cerebrovascular Accident" EXACT []
xref: EFO:0020921
is_a: DOID:9007096 ! Stroke
created_by: slaulede
creation_date: 2023-02-24T16:14:23Z

[Term]
id: DOID:9000628
name: Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities
def: "An autosomal recessive neurodevelopmental disorder characterized by growth retardation, dysmorphic facies, and corpus callosum abnormalities, apparent from infancy. Caused by homozygous mutation in the FRA10AC1 gene on chromosome 10q23." [MIM:620113]
synonym: "NEDGFC" EXACT []
xref: MIM:620113
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006257 ! Growth Disorders
created_by: mtutaj
creation_date: 2022-11-07T07:51:57Z

[Term]
id: DOID:9000629
name: Preauricular Tag, Isolated, Autosomal Dominant, 1
alt_id: DOID:9002696
alt_id: MIM:610420
def: "A preauricular tag is a small excrescence of skin that contains elastic cartilage most commonly located anterior to the tragus, although it can be located on different regions of the ear helix and/or face." []
synonym: "accessory auricle" EXACT []
synonym: "accessory tragus" EXACT []
synonym: "preauricular appendage" EXACT []
synonym: "PREAURICULAR SKIN TAG" EXACT []
xref: MESH:C566904
is_a: DOID:2742 ! auditory system disease
is_a: DOID:6873 ! skin tag

[Term]
id: DOID:9000630
name: Lymphoblastic Transformation, Intrinsic Defect in
alt_id: MIM:247450
xref: MESH:C565431
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9000631
name: Hyper-Beta-Alaninemia
alt_id: MIM:237400
synonym: "Hyperalaninemia" EXACT []
xref: MESH:C562684
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:8619 ! recurrent hypersomnia

[Term]
id: DOID:9000632
name: Lowry Wood Syndrome
alt_id: MIM:226960
synonym: "epiphyseal dysplasia, microcephaly and nystagmus" EXACT []
synonym: "LWS" EXACT []
synonym: "multiple epiphyseal dysplasia with microcephaly and retinal dystrophy" EXACT []
xref: MESH:C537038
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9000633
name: Interstitial Pregnancy
def: "A type of ectopic pregnancy in which the extrauterine EMBRYO IMPLANTATION occurs in the portion of the FALLOPIAN TUBE that traverses the muscular wall of the uterus." [MESH:D065167]
synonym: "Interstitial Pregnancies" EXACT []
xref: MESH:D065167
is_a: DOID:9000960 ! Tubal Pregnancy

[Term]
id: DOID:9000634
name: Amelogenesis Imperfecta Hypomaturation Type
xref: MESH:C536606
xref: RDO:0002236
is_a: DOID:2187 ! amelogenesis imperfecta

[Term]
id: DOID:9000635
name: Platelet Signal Processing Defect
alt_id: MIM:173590
xref: MESH:C566796
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:9000636
name: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT
def: "This disease is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities, most commonly aggressive behavior." [MIM:619467]
synonym: "autosomal dominant Usmani-Riazzudin syndrome" EXACT []
synonym: "USRISD" EXACT []
xref: MIM:619467
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2021-12-14T14:41:44Z

[Term]
id: DOID:9000637
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
def: "A disease characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles." [MIM:618603]
synonym: "NEDHIB" EXACT []
synonym: "POLR2A-RELATED CONDITION" EXACT []
xref: EFO:0010568
xref: MIM:618603
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9005835 ! Congenital Abnormalities
created_by: slaulede
creation_date: 2019-10-10T17:21:53Z

[Term]
id: DOID:9000638
name: Chromosome 8, Partial Trisomy
synonym: "Partial trisomy 8" EXACT []
xref: MESH:C537941
xref: RDO:0003863
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9000639
name: COACH Syndrome 1
synonym: "COACH1" EXACT []
xref: MIM:216360
is_a: DOID:0111589 ! COACH syndrome
created_by: mtutaj
creation_date: 2020-12-02T10:41:20Z

[Term]
id: DOID:9000640
name: Giant Cell Granuloma
def: "A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw." []
synonym: "giant cell epulides" EXACT []
synonym: "Giant Cell Epulis" EXACT []
synonym: "Giant Cell Granulomas" EXACT []
synonym: "peripheral giant cell granuloma" EXACT []
xref: MESH:D006101
is_a: DOID:1483 ! gingival disease
is_a: DOID:9002019 ! Granuloma
is_a: DOID:9003876 ! Jaw Diseases

[Term]
id: DOID:9000641
name: Pain
def: "An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." [MESH:D010146]
synonym: "Ache" EXACT []
synonym: "aches" EXACT []
synonym: "Burning Pain" EXACT []
synonym: "burning pains" EXACT []
synonym: "Crushing Pain" EXACT []
synonym: "Crushing Pains" EXACT []
synonym: "Migratory Pain" EXACT []
synonym: "Migratory Pains" EXACT []
synonym: "Physical Suffering" EXACT []
synonym: "Physical Sufferings" EXACT []
synonym: "Radiating Pain" EXACT []
synonym: "Radiating Pains" EXACT []
synonym: "splitting pain" EXACT []
synonym: "splitting pains" EXACT []
xref: EFO:0003843
xref: MESH:D010146
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9000642
name: Lymphedema and Cerebral Arteriovenous Anomaly
alt_id: MIM:152900
xref: MESH:C563612
is_a: DOID:0060688 ! arteriovenous malformations of the brain
is_a: DOID:4977 ! lymphedema

[Term]
id: DOID:9000644
name: Familial Hyperaldosteronism, Type III
synonym: "familial hyperaldosteronism type 3" EXACT []
synonym: "FH3" EXACT []
synonym: "FH III" EXACT []
synonym: "HALD3" EXACT []
xref: GARD:12362
xref: MIM:613677
xref: MONDO:0013359
xref: ORDO:251274
is_a: DOID:446 ! primary hyperaldosteronism

[Term]
id: DOID:9000645
name: Rotavirus Infections
alt_id: RDO:0006509
def: "Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice." [MESH:D012400]
synonym: "Rotavirus Infection" EXACT []
synonym: "Rotavirus infectious disease" EXACT []
xref: EFO:0002622
xref: MESH:D012400
is_a: DOID:9006487 ! Reoviridae Infections

[Term]
id: DOID:9000646
name: Spinocerebellar Ataxia 49
def: "An autosomal dominant neurologic disorder characterized initially by gait abnormalities, gaze-evoked nystagmus, and hyperreflexia. Caused by heterozygous mutation in the SAMD9L gene on chromosome 7q21." [MIM:619806]
synonym: "SCA49" EXACT []
xref: MIM:619806
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
created_by: mtutaj
creation_date: 2022-04-11T12:08:51Z

[Term]
id: DOID:9000647
name: Acute Erythroleukemia
synonym: "Acute erythroleukemia - M6a subtype" EXACT []
synonym: "Acute erythroleukemia - M6b subtype" EXACT []
synonym: "Acute myeloid leukemia FAB-M6" EXACT []
xref: EFO:0000218
xref: MESH:C535673
xref: RDO:0000926
is_a: DOID:0080916 ! erythroleukemia

[Term]
id: DOID:9000648
name: Malformed Nails
def: "Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails." [MESH:D009264]
synonym: "Abnormal Nail" EXACT []
synonym: "abnormal nails" EXACT []
synonym: "Malformed Nail" EXACT []
synonym: "Nail Abnormalities" EXACT []
synonym: "Nail Abnormality" EXACT []
synonym: "pachyonychia" EXACT []
xref: MESH:D009264
is_a: DOID:4123 ! nail disease
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9000651
name: Abnormal Thyroid Hormone Metabolism 2
def: "Characterized by elevated serum reverse triiodothyronine (rT3) levels and rT3/T3 ratios. Caused by heterozygous mutation in the DIO1 gene on chromosome 1p32." [MIM:619855]
synonym: "THMA2" EXACT []
xref: MIM:619855
is_a: DOID:50 ! thyroid gland disease
created_by: mtutaj
creation_date: 2022-04-26T10:47:11Z

[Term]
id: DOID:9000652
name: Cardiac Conduction Disease with or without Dilated Cardiomyopathy
def: "CCDD is caused by heterozygous mutation in the TNNI3K gene (613932) on chromosome 1p31. (OMIM)" []
synonym: "CCDD" EXACT []
synonym: "TNNI3K-RELATED CONDITION" EXACT []
xref: MIM:616117
xref: RDO:9000809
is_a: DOID:12930 ! dilated cardiomyopathy
is_a: DOID:9000064 ! Cardiac Arrhythmias
is_a: DOID:9001836 ! Cardiac Conduction Defect

[Term]
id: DOID:9000653
name: Lactic Aciduria due to D-Lactic Acid
alt_id: MIM:245450
def: "DLACD is caused by homozygous mutation in the LDHD gene on chromosome 16q23. (OMIM)" []
synonym: "DLACD" EXACT []
synonym: "D-LACTIC ACIDURIA" EXACT []
synonym: "D-lactic aciduria with gout" EXACT []
xref: MESH:C565446
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9000654
name: Aortic Aneurysm, Familial Abdominal 1
alt_id: MIM:100070
alt_id: RDO:0007862
alt_id: RDO:0013932
synonym: "AAA1" EXACT []
xref: MESH:C565230
is_a: DOID:7693 ! abdominal aortic aneurysm

[Term]
id: DOID:9000656
name: Penetrating Wounds
def: "Wounds caused by objects penetrating the skin." [MESH:D014950]
synonym: "Penetrating Wound" EXACT []
xref: MESH:D014950
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9000657
name: Glassy Cell Carcinoma of the Cervix
synonym: "Glassy cell adenocarcinoma of the uterine cervix" EXACT []
xref: MESH:C536823
xref: RDO:0002516
is_a: DOID:9003373 ! Uterine Cervical Neoplasms

[Term]
id: DOID:9000658
name: Leigh Syndrome due to Mitochondrial Complex IV Deficiency
xref: EFO:0009135
xref: MESH:C564963
is_a: DOID:3652 ! Leigh disease

[Term]
id: DOID:9000659
name: Heavy Metal Toxicity
def: "Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of HEAVY METALS. Acute and chronic exposures can cause ANEMIA; KIDNEY and LIVER damage; PULMONARY EDEMA; MEMORY LOSS and behavioral changes; bone deformities in children; and MISCARRIAGE or PREMATURE LABOR in pregnant women. (MESH)" []
synonym: "chronic heavy metal poisoning" EXACT []
synonym: "heavy metal poisoning" EXACT []
xref: EFO:1001518
xref: MESH:D000075322
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:9000660
name: Choristoma
def: "A mass of histologically normal tissue present in an abnormal location." [MESH:D002828]
synonym: "Aberrant Tissue" EXACT []
synonym: "Aberrant Tissues" EXACT []
synonym: "Choristomas" EXACT []
synonym: "Ectopic Tissue" EXACT []
synonym: "Ectopic Tissues" EXACT []
synonym: "Heterotopic Tissue" EXACT []
synonym: "Heterotopic Tissues" EXACT []
xref: MESH:D002828
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9000661
name: Le Marec Bracq Picaud Syndrome
def: "A very rare syndrome characterized mainly by a large head, short arms and clubfoot." []
synonym: "Complex malformation syndrome with brachymesomelia" EXACT []
xref: MESH:C536997
xref: RDO:0002734
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000662
name: Warburg-Cinotti Syndrome
def: "A disease characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis." [MIM:618175]
synonym: "WRCN" EXACT []
xref: EFO:0010166
xref: MIM:618175
is_a: DOID:11382 ! corneal neovascularization
is_a: DOID:9000058 ! Keloid
is_a: DOID:9001402 ! Acro-Osteolysis
is_a: DOID:9006836 ! Contracture
created_by: slaulede
creation_date: 2020-02-17T18:43:56Z

[Term]
id: DOID:9000664
name: Familial Thoracic Aortic Aneurysm 4
alt_id: MIM:132900
synonym: "AAT4" EXACT []
synonym: "Aortic aneurysm-aortic dissection and patent ductus arteriosus" EXACT []
synonym: "FAA4" EXACT []
xref: MESH:C537784
is_a: DOID:13832 ! patent ductus arteriosus
is_a: DOID:14004 ! thoracic aortic aneurysm

[Term]
id: DOID:9000666
name: Raine Syndrome
alt_id: DOID:9002952
alt_id: MESH:C564916
alt_id: MIM:259775
synonym: "CSOCC" EXACT []
synonym: "FAM20C-RELATED CONDITION" EXACT []
synonym: "Lethal osteosclerotic bone dysplasia" EXACT []
synonym: "RNS" EXACT []
synonym: "sclerosing osteomalacia with cerebral calcification" EXACT []
xref: MESH:C535282
is_a: DOID:10573 ! osteomalacia
is_a: DOID:10907 ! microcephaly
is_a: DOID:182 ! calcinosis
is_a: DOID:4254 ! osteosclerosis
is_a: DOID:674 ! cleft palate
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:9000667
name: Congenital Plasminogen Deficiency
synonym: "Hypoplasminogenemia" EXACT []
xref: MESH:C580017
xref: RDO:0015877
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:9000668
name: Nizon-Isidor Syndrome
synonym: "MED12L-RELATED CONDITION" EXACT []
synonym: "NIZIDS" EXACT []
xref: MIM:618872
is_a: DOID:225 ! syndrome
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2020-06-15T16:04:37Z

[Term]
id: DOID:9000669
name: Ventricular Dysfunction, Right
def: "A condition in which the RIGHT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE or MYOCARDIAL INFARCTION, and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the right ventricular wall." [MESH:D018497]
synonym: "Right Ventricular Dysfunctions" EXACT []
xref: MESH:D018497
xref: RDO:0007214
is_a: DOID:9007039 ! Ventricular Dysfunction

[Term]
id: DOID:9000670
name: Ileal Neoplasms
def: "Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL)." [MESH:D007078]
synonym: "ileal neoplasm" EXACT []
synonym: "ileal tumor" EXACT []
xref: EFO:1000981
xref: MESH:D007078
xref: NCI:C3130
is_a: DOID:9001261 ! Ileal Diseases
is_a: DOID:9002245 ! Intestinal Neoplasms
created_by: mtutaj
creation_date: 2021-12-16T06:22:01Z

[Term]
id: DOID:9000671
name: Thakker Donnai Syndrome
synonym: "Dysmorphic facial features and multiple structural abnormalities" EXACT []
synonym: "Dysmorphism multiple structural anomalies" EXACT []
xref: MESH:C536503
is_a: DOID:225 ! syndrome
is_a: DOID:767 ! muscular atrophy
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000672
name: Immunoblastic Large-Cell Lymphoma
def: "Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan." [MESH:D016400]
synonym: "Diffuse Immunoblastic Lymphosarcoma" EXACT []
synonym: "Diffuse Immunoblastic Lymphosarcomas" EXACT []
synonym: "Immunoblastic Large-Cell Lymphomas" EXACT []
synonym: "Immunoblastic Sarcoma" EXACT []
synonym: "Immunoblastic Sarcomas" EXACT []
synonym: "Immunoblastoma" EXACT []
synonym: "Immunoblastomas" EXACT []
xref: MESH:D016400
is_a: DOID:0060060 ! non-Hodgkin lymphoma

[Term]
id: DOID:9000673
name: Actinomycetales Infections
def: "Infections with bacteria of the order ACTINOMYCETALES." [MESH:D000193]
synonym: "Actinomycetales Infection" EXACT []
synonym: "Actinomycete Infection" EXACT []
synonym: "Actinomycete Infections" EXACT []
xref: EFO:1001122
xref: MESH:D000193
xref: RDO:0004726
is_a: DOID:9002823 ! Gram-Positive Bacterial Infections

[Term]
id: DOID:9000674
name: Agenesis of Gallbladder
alt_id: MIM:137040
xref: MESH:C562564
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9000675
name: Microcephaly Sparse Hair Mental Retardation Seizures
xref: MESH:C537545
xref: MONDO:0043139
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9000676
name: Tumor Predisposition Syndrome 2
def: "An autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. Caused by homozygous or compound heterozygous germline mutation in the MBD4 gene on chromosome 3q21." [MIM:619975]
synonym: "MANS" EXACT []
synonym: "MBD4-ASSOCIATED NEOPLASIA SYNDROME" EXACT []
synonym: "TPDS2" EXACT []
xref: MIM:619975
is_a: DOID:9001329 ! Tumor Predisposition Syndrome
created_by: mtutaj
creation_date: 2022-08-08T11:22:37Z

[Term]
id: DOID:9000677
name: Ehlers-Danlos Syndrome, Beasley Cohen Type
alt_id: MIM:608763
synonym: "Ehlers-Danlos syndrome with mental retardation, deafness, and cataract" EXACT []
xref: MESH:C536199
is_a: DOID:13359 ! Ehlers-Danlos syndrome

[Term]
id: DOID:9000678
name: Duker Weiss Siber syndrome
alt_id: RDO:0000991
xref: MESH:C535719
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10629 ! microphthalmia
is_a: DOID:225 ! syndrome
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9001999 ! Agenesis of Corpus Callosum

[Term]
id: DOID:9000679
name: Leigh Syndrome due to Mitochondrial Complex III Deficiency
xref: MESH:C564962
is_a: DOID:3652 ! Leigh disease

[Term]
id: DOID:9000680
name: Subacute Necrotizing Encephalopathy of Leigh, Infantile
synonym: "Leigh's necrotizing encephalopathy" EXACT []
xref: MESH:C538590
xref: RDO:0004518
is_a: DOID:3652 ! Leigh disease

[Term]
id: DOID:9000681
name: Elimination Disorders
def: "Excretory-related psychiatric disorders usually diagnosed in infancy or childhood." [MESH:D019960]
synonym: "Elimination Disorder" EXACT []
xref: MESH:D019960
xref: RDO:0005480
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:9000682
name: Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome
synonym: "CAASDS" EXACT []
synonym: "VSX1-RELATED CONDITION" BROAD []
xref: MIM:614195
xref: RDO:9000256
is_a: DOID:0060648 ! anterior segment dysgenesis
is_a: DOID:225 ! syndrome
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000683
name: Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness
alt_id: MIM:267300
synonym: "distal renal tubular acidosis with progressive deafness" EXACT []
synonym: "distal renal tubular acidosis with progressive nerve deafness" EXACT []
synonym: "distal renal tubular acidosis with progressive sensorineural hearing loss" EXACT []
synonym: "DRTA2" EXACT []
synonym: "renal tubular acidosis, autosomal recessive, with progressive nerve deafness" EXACT []
synonym: "Renal Tubular Acidosis with Progressive Nerve Deafness" EXACT []
synonym: "RTA with progressive deafness" EXACT []
xref: MESH:C562897
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9007406 ! Distal Renal Tubular Acidosis

[Term]
id: DOID:9000684
name: Porcine Reproductive and Respiratory Syndrome
def: "A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)" [MESH:D019318]
synonym: "Blue Eared Pig Disease" EXACT []
synonym: "Mystery Swine Disease" EXACT []
synonym: "Porcine Epidemic Abortion and Respiratory Syndrome" EXACT []
synonym: "PRRS" EXACT []
synonym: "Swine Infertility and Respiratory Syndrome" EXACT []
xref: MESH:D019318
xref: RDO:0007269
is_a: DOID:225 ! syndrome
is_a: DOID:9001975 ! Arterivirus Infections
is_a: DOID:9008435 ! Swine Diseases

[Term]
id: DOID:9000685
name: Chondromatosis
def: "Multiple formation of chondromas. (Dorland, 27th ed)" [MESH:D018210]
synonym: "Chondromatoses" EXACT []
xref: MESH:D018210
is_a: DOID:2602 ! chondroma

[Term]
id: DOID:9000686
name: Striatonigral Degeneration, Childhood-Onset
synonym: "LENK-PLOSKI SYNDROME" EXACT []
synonym: "SNDC" EXACT []
xref: MIM:617054
is_a: DOID:4751 ! striatonigral degeneration
created_by: rgd
creation_date: 2016-09-13T00:00:00Z

[Term]
id: DOID:9000687
name: Torticollis Keloids Cryptorchidism Renal Dysplasia
alt_id: MIM:314300
synonym: "Goeminne syndrome" EXACT []
synonym: "TKC" EXACT []
synonym: "TKCR" EXACT []
synonym: "TKCR SYNDROME" EXACT []
synonym: "Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia" EXACT []
xref: MESH:C536970
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0050840 ! cervical dystonia
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:9000058 ! Keloid

[Term]
id: DOID:9000691
name: Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia
alt_id: MIM:605040
xref: MESH:C565729
is_a: DOID:9005616 ! Micrognathism

[Term]
id: DOID:9000692
name: Megarbane Syndrome
alt_id: MIM:606527
xref: MESH:C536145
is_a: DOID:1283 ! enterocele
is_a: DOID:225 ! syndrome
is_a: DOID:9005077 ! Joint Instability
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9000693
name: Mitochondrial Complex III Deficiency Nuclear Type 10
synonym: "MC3DN10" EXACT []
xref: MIM:618775
is_a: DOID:0111139 ! mitochondrial complex III deficiency
created_by: mtutaj
creation_date: 2020-02-17T11:06:05Z

[Term]
id: DOID:9000694
name: Brain Stem Hemorrhage, Traumatic
def: "Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." [MESH:D020203]
synonym: "Post Traumatic Brain Stem Hemorrhage" EXACT []
synonym: "Post Traumatic Brainstem Hemorrhage" EXACT []
synonym: "Traumatic Brain Stem Hematoma" EXACT []
synonym: "Traumatic Brainstem Hematoma" EXACT []
synonym: "Traumatic Brainstem Hematomas" EXACT []
synonym: "Traumatic Brainstem Hemorrhage" EXACT []
synonym: "Traumatic Bulbar Hemorrhage" EXACT []
synonym: "Traumatic Medullary Hemorrhage" EXACT []
synonym: "Traumatic Midbrain Hemorrhage" EXACT []
synonym: "Traumatic Pontine Hemorrhage" EXACT []
xref: EFO:1001276
xref: MESH:D020203
xref: RDO:0007343
is_a: DOID:9004208 ! Traumatic Brain Hemorrhage

[Term]
id: DOID:9000695
name: Sharma Kapoor Ramji Syndrome
xref: MESH:C537595
xref: RDO:0003466
is_a: DOID:225 ! syndrome
is_a: DOID:9002231 ! Fetal Growth Retardation
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000696
name: Citrulline Transport Defect
alt_id: MIM:215720
xref: MESH:C536207
is_a: DOID:9267 ! urea cycle disorder

[Term]
id: DOID:9000698
name: Oculopalatocerebral Syndrome
alt_id: MIM:257910
synonym: "Oculopalatocerebral Dwarfism" EXACT []
synonym: "OPC DWARFISM" EXACT []
xref: MESH:C564935
xref: RDO:0013727
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9000699
name: Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B
alt_id: RDO:0001510
synonym: "apolipoprotein B 100, familial defective" EXACT []
synonym: "Apolipoprotein B 100, Familial Ligand Defective" EXACT []
synonym: "hypercholesterolemia due to arg3500 mutation of Apo B-100" EXACT []
xref: MESH:C536083
is_a: DOID:13810 ! familial hypercholesterolemia

[Term]
id: DOID:9000700
name: Feline Leukemia
def: "A neoplastic disease of cats frequently associated with feline leukemia virus infection." [MESH:D016582]
synonym: "Feline Leukemias" EXACT []
xref: MESH:D016582
is_a: DOID:1240 ! leukemia
is_a: DOID:9005924 ! Cat Diseases
is_a: DOID:9006644 ! Retroviridae Infections

[Term]
id: DOID:9000701
name: Acetyl-Coa Carboxylase Deficiency
alt_id: MIM:613933
synonym: "ACACAD" EXACT []
synonym: "ACACA Deficiency" EXACT []
synonym: "ACC1 Deficiency" EXACT []
synonym: "acetyl-CoA carboxylase-alpha deficiency" EXACT []
xref: MESH:C562678
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:9000702
name: Stuve-Wiedemann Syndrome 2
def: "This disease is an autosomal recessive lethal skeletal dysplasia characterized by short stature, small chest, bowing of the long bones, and neonatal cardiopulmonary and autonomous dysfunction." [MIM:619751]
synonym: "STWS2" EXACT []
synonym: "STÜVE-WIEDEMANN SYNDROME 2" EXACT []
xref: MIM:619751
is_a: DOID:9004577 ! Stuve-Wiedemann Syndrome
created_by: slaulede
creation_date: 2022-03-28T16:42:55Z

[Term]
id: DOID:9000703
name: Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification
alt_id: MIM:210050
synonym: "Cerebral Aneurysm-Cirrhosis Syndrome" EXACT []
xref: MESH:C565905
is_a: DOID:0060228 ! intracranial berry aneurysm
is_a: DOID:182 ! calcinosis
is_a: DOID:9675 ! pulmonary emphysema

[Term]
id: DOID:9000704
name: Lingual Thyroids
def: "A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM." [MESH:D046151]
synonym: "lingual thyroid" EXACT []
xref: EFO:1001803
xref: MESH:D046151
is_a: DOID:8433 ! thyroid malformation

[Term]
id: DOID:9000706
name: Nonfunctional L-Gulonolactone Oxidase
synonym: "nonfunctional gulo" EXACT []
xref: MESH:C565486
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9003737 ! Ascorbic Acid Deficiency

[Term]
id: DOID:9000708
name: Oocyte/Zygote/Embryo Maturation Arrest 16
synonym: "OZEMA16" EXACT []
synonym: "Preimplantation Embryonic Lethality 2" EXACT []
synonym: "PREMBL2" EXACT []
xref: MIM:617234
is_a: DOID:9004994 ! Embryo Loss
is_a: DOID:9007456 ! Female Infertility

[Term]
id: DOID:9000709
name: Hereditary Ochronosis
xref: MESH:C537862
is_a: DOID:14223 ! ochronosis

[Term]
id: DOID:9000710
name: Chromosome 7 Ring Syndrome
synonym: "Ring chromosome 7" EXACT []
xref: MESH:C537813
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9000711
name: Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave
xref: RDO:9001249
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11723 ! Duchenne muscular dystrophy
is_a: DOID:8499 ! night blindness
created_by: rgd
creation_date: 2016-09-07T00:00:00Z

[Term]
id: DOID:9000712
name: Trochlea of the Humerus, Aplasia of
alt_id: MIM:191000
xref: MESH:C566022
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:9000713
name: Surgical Wound
def: "An incision made during a surgical procedure." [MESH:D000072836]
synonym: "Surgical Incision" EXACT []
synonym: "Surgical Incisions" EXACT []
synonym: "Surgical Wounds" EXACT []
xref: MESH:D000072836
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9000714
name: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS
synonym: "COMMAD" EXACT []
xref: MIM:617306
is_a: DOID:10629 ! microphthalmia
is_a: DOID:12270 ! coloboma
is_a: DOID:13533 ! osteopetrosis
is_a: DOID:9001386 ! Albinism
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9000715
name: Suppressor of Tumorigenicity 3
alt_id: RDO:0008191
synonym: "CCTS" EXACT []
synonym: "CERVICAL CARCINOMA, TUMOR-SUPPRESSOR GENE INVOLVED IN" EXACT []
synonym: "ST3" EXACT []
synonym: "TSHL" EXACT []
synonym: "TUMOR-SUPPRESSOR GENE, HELA CELL TYPE" EXACT []
xref: MIM:191181
is_a: DOID:9003373 ! Uterine Cervical Neoplasms

[Term]
id: DOID:9000716
name: Immersion Foot
def: "A condition of the feet produced by prolonged exposure of the feet to water. Exposure for 48 hours or more to warm water causes tropical immersion foot or warm-water immersion foot common in Vietnam where troops were exposed to prolonged or repeated wading in paddy fields or streams. Trench foot results from prolonged exposure to cold, without actual freezing. It was common in trench warfare during World War I, when soldiers stood, sometimes for hours, in trenches with a few inches of cold water in them. (Andrews' Diseases of the Skin, 8th ed, p27)" [MESH:D007102]
synonym: "Immersion Feet" EXACT []
synonym: "Trench Feet" EXACT []
synonym: "Trench Foot" EXACT []
xref: MESH:D007102
is_a: DOID:9007310 ! Foot Diseases

[Term]
id: DOID:9000717
name: Familial Multiple Coagulation Factor Deficiency I
alt_id: MIM:227300
alt_id: MIM:227310
synonym: "F5F8D" EXACT []
synonym: "F5F8D1" EXACT []
synonym: "Factor V And Factor VIII, Combined Deficiency Of" EXACT []
synonym: "Factor V And Factor VIII, Combined Deficiency Of, With Normal Protein C And Protein C Inhibitor" EXACT []
synonym: "FMFD1" EXACT []
synonym: "FMFD I" EXACT []
synonym: "MCFD1" EXACT []
synonym: "multiple coagulation factor deficiency I" EXACT []
xref: MESH:C565577
is_a: DOID:12134 ! factor VIII deficiency
is_a: DOID:2216 ! factor V deficiency

[Term]
id: DOID:9000718
name: Ovalocytosis, Hereditary Hemolytic
xref: MESH:C563480
xref: RDO:0012725
is_a: DOID:2373 ! hereditary elliptocytosis

[Term]
id: DOID:9000719
name: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
synonym: "MMIHS1" EXACT []
xref: MIM:249210
is_a: DOID:0060610 ! megacystis-microcolon-intestinal hypoperistalsis syndrome
created_by: mtutaj
creation_date: 2021-05-28T13:25:32Z

[Term]
id: DOID:9000720
name: Tetramelic Monodactyly
alt_id: MIM:187510
synonym: "Sommer-Hines syndrome" EXACT []
xref: GARD:3707
xref: MESH:C566066
xref: MONDO:0008544
xref: ORDO:2564
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9000721
name: Chromosome 2, Trisomy 2p13 p21
synonym: "Duplication 2p13 p21" EXACT []
synonym: "Trisomy 2p13 p21" EXACT []
xref: MESH:C535365
xref: RDO:0000447
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9000722
name: Animal Hepatitis
def: "INFLAMMATION of the LIVER in non-human animals." [MESH:D006520]
synonym: "animal hepatitides" EXACT []
xref: MESH:D006520
is_a: DOID:2237 ! hepatitis
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9000723
name: Female Urogenital Diseases and Pregnancy Complications
def: "Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY." [MESH:D005261]
subset: RGD_JBrowse_slim
xref: MESH:D005261
is_a: DOID:9009146 ! Urogenital Diseases

[Term]
id: DOID:9000724
name: Corneodermatoosseous Syndrome
alt_id: MIM:122440
synonym: "CDO syndrome" EXACT []
synonym: "Epithelial corneal dystrophy and short stature" EXACT []
synonym: "Epithelial corneal dystrophy with skin and skeletal changes" EXACT []
xref: MESH:C536444
is_a: DOID:0060440 ! epithelial and subepithelial dystrophy
is_a: DOID:225 ! syndrome
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital

[Term]
id: DOID:9000725
name: Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies
synonym: "Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies" EXACT []
synonym: "RHFCA" EXACT []
xref: MIM:614416
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000726
name: Bardet-Biedl Syndrome 2/6, Digenic
xref: RDO:9001190
is_a: DOID:0110124 ! Bardet-Biedl syndrome 2
is_a: DOID:0110128 ! Bardet-Biedl syndrome 6
created_by: rgd
creation_date: 2016-06-08T00:00:00Z

[Term]
id: DOID:9000727
name: Syncope
def: "A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope. (From Adams et al., Principles of Neurology, 6th ed, pp367-9)" [MESH:D013575]
synonym: "Cardiogenic Syncope" EXACT []
synonym: "Cardiogenic Syncopes" EXACT []
synonym: "Carotid Sinus Syncope" EXACT []
synonym: "Carotid Sinus Syncopes" EXACT []
synonym: "Convulsive Syncope" EXACT []
synonym: "Convulsive Syncopes" EXACT []
synonym: "Deglutitional Syncope" EXACT []
synonym: "Deglutitional Syncopes" EXACT []
synonym: "Drop Attack" EXACT []
synonym: "Drop Attacks" EXACT []
synonym: "Effort Syncope" EXACT []
synonym: "Effort Syncopes" EXACT []
synonym: "Fainting" EXACT []
synonym: "Hyperventilation Syncope" EXACT []
synonym: "Hyperventilation Syncopes" EXACT []
synonym: "Micturition Syncope" EXACT []
synonym: "Micturition Syncopes" EXACT []
synonym: "Postural Syncope" EXACT []
synonym: "Postural Syncopes" EXACT []
synonym: "Presyncope" EXACT []
synonym: "Presyncopes" EXACT []
synonym: "Situational Syncope" EXACT []
synonym: "Situational Syncopes" EXACT []
synonym: "Stokes-Adams Syncope" EXACT []
synonym: "Stokes-Adams Syncopes" EXACT []
synonym: "Syncopal Episode" EXACT []
synonym: "Syncopal Episodes" EXACT []
synonym: "Syncopal Vertigo" EXACT []
synonym: "Syncopes" EXACT []
synonym: "Tussive Syncope" EXACT []
synonym: "Tussive Syncopes" EXACT []
synonym: "Vertigos, Syncopal" EXACT []
xref: MESH:D013575
is_a: DOID:9007650 ! Unconsciousness

[Term]
id: DOID:9000728
name: Traumatic Shock
def: "Shock produced as a result of trauma." [MESH:D012774]
xref: MESH:D012774
is_a: DOID:9001600 ! Wounds and Injuries
is_a: DOID:9002549 ! Shock

[Term]
id: DOID:9000729
name: OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME
xref: ClinVar:VCV000983267
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9006079 ! Inherited Peripheral Neuropathy
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2020-12-15T14:24:00Z

[Term]
id: DOID:9000730
name: Al-Gazali Syndrome
alt_id: MIM:609465
synonym: "ALGAZ" EXACT []
xref: MESH:C536817
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000732
name: Cone-Rod Dystrophy and Hearing Loss
synonym: "CRDHL" EXACT []
xref: EFO:0009151
xref: MIM:PS617236
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9000733
name: Joubert Syndrome 40
def: "An autosomal recessive neurodevelopmental disorder characterized by developmental delay, postaxial polydactyly, subtle midline notching or clefting of the upper lip, hypotonia, and the 'molar tooth sign' on brain imaging. Caused by compound heterozygous mutation in the IFT74 gene on chromosome 9p21. (OMIM)" []
synonym: "JBTS40" EXACT []
xref: MIM:619582
is_a: DOID:0050777 ! Joubert syndrome
created_by: mtutaj
creation_date: 2021-10-27T16:47:15Z

[Term]
id: DOID:9000734
name: Oligomenorrhea
def: "Abnormally infrequent menstruation." [MESH:D009839]
synonym: "Oligomenorrheas" EXACT []
xref: MESH:D009839
is_a: DOID:9004918 ! Menstruation Disturbances

[Term]
id: DOID:9000736
name: Chromosome 4q- Syndrome
synonym: "Chromosome 4 Long Arm Deletion" EXACT []
synonym: "Chromosome 4, monosomy 4q" EXACT []
synonym: "Deletion 4q" EXACT []
synonym: "Monosomy 4q" EXACT []
xref: MESH:C537639
is_a: DOID:225 ! syndrome
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9000737
name: X-Linked Anemia without Thrombocytopenia
alt_id: RDO:0013397
xref: MESH:C564429
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:2355 ! anemia

[Term]
id: DOID:9000738
name: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY
def: "This is a disease characterized by marked short stature, oligodontia, mild facial dysmorphism, and motor delay." [MIM:619234]
synonym: "POLR3GL-RELATED CONDITION" EXACT []
synonym: "SOFM" EXACT []
xref: MIM:619234
is_a: DOID:13714 ! anodontia
is_a: DOID:9001487 ! Facies
is_a: DOID:9007661 ! Dwarfism
created_by: slaulede
creation_date: 2021-04-15T12:31:02Z

[Term]
id: DOID:9000739
name: Burkholderia Infections
def: "Infections with bacteria of the genus BURKHOLDERIA." [MESH:D019121]
synonym: "Burkholderia Infection" EXACT []
xref: EFO:1001280
xref: MESH:D019121
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9000740
name: ST Elevation Myocardial Infarction
def: "A clinical syndrome defined by MYOCARDIAL ISCHEMIA symptoms; persistent elevation in the ST segments of the ELECTROCARDIOGRAM; and release of BIOMARKERS of myocardial NECROSIS (e.g., elevated TROPONIN levels). ST segment elevation in the ECG is often used in determining the treatment protocol (see also NON-ST ELEVATION MYOCARDIAL INFARCTION)." [MESH:D000072657]
synonym: "ST Elevated Myocardial Infarction" EXACT []
synonym: "STEMI" EXACT []
synonym: "ST Segment Elevation Myocardial Infarction" EXACT []
xref: EFO:0008585
xref: MESH:D000072657
xref: RDO:0016116
is_a: DOID:5844 ! myocardial infarction

[Term]
id: DOID:9000741
name: Chromate Resistance
alt_id: MIM:118840
xref: MESH:C566125
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9000742
name: Free Sialic Acid Storage Disease
synonym: "N-acetylneuraminic acid (NANA) storage disease (NSD)" EXACT []
xref: MESH:C538523
is_a: DOID:3659 ! sialuria

[Term]
id: DOID:9000743
name: Microphthalmia/Coloboma 10
alt_id: OMIA:002151
synonym: "isolated microphthalmia and/or coloboma 10" EXACT []
synonym: "isolated microphthalmia with coloboma 10" EXACT []
synonym: "MCOPCB10" EXACT []
xref: MIM:616428
is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma

[Term]
id: DOID:9000744
name: Congenital Disorder of Glycosylation Type IIr
synonym: "CDG2R" EXACT []
synonym: "CDG IIr" EXACT []
synonym: "CDGIIR" EXACT []
xref: MIM:301045
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
created_by: mtutaj
creation_date: 2020-04-22T08:44:21Z

[Term]
id: DOID:9000745
name: Focal Facial Dermal Dysplasia
def: "A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. Location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. Focal facial dermal dysplasia (FFDD) is generally divided into four subtypes according to the location of the lesions and inheritance pattern." [MESH:D000090303]
synonym: "Facial Ectodermal Dysplasia" EXACT []
synonym: "Facial Ectodermal Dysplasias" EXACT []
synonym: "Focal Facial Dermal Dysplasias" EXACT []
xref: MESH:D000090303
xref: MIM:PS136500
is_a: DOID:2121 ! ectodermal dysplasia
created_by: mtutaj
creation_date: 2021-12-08T14:24:39Z

[Term]
id: DOID:9000746
name: Treponemal Infections
alt_id: RDO:0004382
def: "Infections with bacteria of the genus TREPONEMA." []
synonym: "Treponemal Infection" EXACT []
xref: EFO:1001217
xref: MESH:D014211
is_a: DOID:9002423 ! Spirochaetales Infections

[Term]
id: DOID:9000747
name: Pneumorrhachis
def: "Presence of air or gas within the spinal canal cavity (EPIDURAL SPACE; or SUBARACHNOID SPACE). It may result from traumatic injuries, emphysema, infection and other conditions. It can also develop as a complication of various SURGICAL PROCEDURES (e.g., MYELOGRAPHY)." [MESH:D063205]
synonym: "Epidural Pneumorrhachi" EXACT []
synonym: "Epidural Pneumorrhachis" EXACT []
synonym: "Pneumorrhachi" EXACT []
synonym: "Subarachnoid Pneumorrhachi" EXACT []
synonym: "Subarachnoid Pneumorrhachis" EXACT []
xref: MESH:D063205
xref: RDO:0012115
is_a: DOID:319 ! spinal cord disease

[Term]
id: DOID:9000749
name: Cloverleaf Skull Micromelia Thoracic Dysplasia
alt_id: MIM:156830
synonym: "Micromelic bone dysplasia with cloverleaf skull" EXACT []
xref: MESH:C536429
is_a: DOID:0080001 ! bone disease
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9000750
name: Waardenburg Syndrome Type 2F
def: "Waardenburg Syndrome characterized by congenital or neonatal-onset sensorineural hearing loss and altered pigmentation of the iris, hair, and skin. Caused by homozygous mutation in the KITLG gene on chromosome 12q21." [MIM:619947]
synonym: "WS2F" EXACT []
xref: MIM:619947
is_a: DOID:9002843 ! Waardenburg Syndrome Type 2
created_by: mtutaj
creation_date: 2022-07-06T10:40:27Z

[Term]
id: DOID:9000751
name: Absence of Tibia
alt_id: MIM:275220
synonym: "Bilateral absence of the tibia" EXACT []
synonym: "THM" EXACT []
synonym: "Tibial hemimelia" EXACT []
xref: MESH:C535563
xref: RDO:0000758
is_a: DOID:9000545 ! Ectromelia

[Term]
id: DOID:9000752
name: Skin/Hair/Eye Pigmentation, Variation In, 1
synonym: "BEY2" EXACT []
synonym: "BROWN EYE COLOR 2" EXACT []
synonym: "EYCL3" EXACT []
synonym: "EYE COLOR 3" EXACT []
synonym: "EYE COLOR, BLUE/NONBLUE" EXACT []
synonym: "EYE COLOR, BROWN/BLUE" EXACT []
synonym: "HAIR COLOR 3" EXACT []
synonym: "HCL3" EXACT []
synonym: "SHEP1" EXACT []
synonym: "SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR" EXACT []
synonym: "SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES" EXACT []
synonym: "SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES" EXACT []
xref: MIM:227220
xref: RDO:9001117
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9001946 ! Skin Abnormalities
created_by: rgd
creation_date: 2015-07-16T00:00:00Z

[Term]
id: DOID:9000754
name: Infantile Hypertrophic Pyloric Stenosis 3
alt_id: MIM:612017
synonym: "IHPS3" EXACT []
xref: MESH:C567435
is_a: DOID:12638 ! hypertrophic pyloric stenosis

[Term]
id: DOID:9000755
name: Asrar Facharzt Haque Syndrome
xref: MESH:C535391
xref: RDO:0000484
is_a: DOID:225 ! syndrome
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9001904 ! Sinus Histiocytosis
is_a: DOID:9008513 ! Hoarseness

[Term]
id: DOID:9000756
name: Persistent Polyclonal B-Cell Lymphocytosis
alt_id: MIM:606445
synonym: "PPBL" EXACT []
xref: MESH:C564707
is_a: DOID:9001779 ! Lymphocytosis

[Term]
id: DOID:9000757
name: Chromosome 20, Deletion 20p
synonym: "Deletion 20p" EXACT []
synonym: "Monosomy 20p" EXACT []
xref: MESH:C535370
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9000758
name: Myopathy, Cataract, Hypogonadism Syndrome
alt_id: RDO:0012801
synonym: "Ocular Myopathy with Hypogonadism" EXACT []
xref: MESH:C563578
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:423 ! myopathy
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:9000759
name: Avian Tuberculosis
def: "A variety of TUBERCULOSIS affecting various birds, including chickens and ducks. It is caused by MYCOBACTERIUM AVIUM and characterized by tubercles consisting principally of epithelioid cells." [MESH:D014379]
synonym: "Avian Tuberculoses" EXACT []
xref: EFO:1001440
xref: MESH:D014379
is_a: DOID:399 ! tuberculosis
is_a: DOID:9006114 ! Bird Diseases

[Term]
id: DOID:9000760
name: Ovarian Dysgenesis 9
def: "Characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age. Caused by homozygous mutation in the SPIDR gene on chromosome 8q11." [MIM:619665]
synonym: "ODG9" EXACT []
xref: MIM:619665
is_a: DOID:14450 ! 46 XX gonadal dysgenesis
created_by: mtutaj
creation_date: 2021-12-22T09:30:15Z

[Term]
id: DOID:9000761
name: Deoxyguanosine Kinase Deficiency
synonym: "Dguok-Related Mitochondrial Dna Depletion Syndrome" EXACT []
synonym: "Hepatocerebral Mitochondrial Dna Depletion Syndrome" EXACT []
synonym: "Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form" EXACT []
xref: MESH:C580039
xref: RDO:0015878
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9000762
name: Immunodeficiency 88
def: "An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. Caused by homozygous mutation in the TBX21 gene on chromosome 17q21." [MIM:619630]
synonym: "IMD88" EXACT []
synonym: "immunodeficiency 88, mycobacteriosis, autosomal recessive" EXACT []
xref: MIM:619630
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9001415 ! Mycobacterium Infections
created_by: mtutaj
creation_date: 2021-11-30T10:50:21Z

[Term]
id: DOID:9000763
name: Focal Facial Dermal Dysplasia 4
synonym: "FFDD4" EXACT []
xref: MIM:614974
is_a: DOID:9000745 ! Focal Facial Dermal Dysplasia

[Term]
id: DOID:9000765
name: Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy
alt_id: MIM:606183
xref: MESH:C565252
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:9000586 ! Vocal Cord Paralysis
is_a: DOID:9006178 ! Dysphonia

[Term]
id: DOID:9000766
name: Incisional Hernia
def: "Protrusion of tissue at or near the site of an incision from a previous surgery." [MESH:D000069290]
synonym: "Incisional Hernias" EXACT []
synonym: "Postoperative Hernia" EXACT []
synonym: "Postoperative Hernias" EXACT []
xref: MESH:D000069290
is_a: DOID:1283 ! enterocele
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9000767
name: Chromosome 8, Trisomy 8q
synonym: "Duplication 8q" EXACT []
synonym: "Trisomy 8q" EXACT []
xref: MESH:C538020
xref: RDO:0003954
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9000768
name: Ruptured Aneurysm
def: "The tearing or bursting of the weakened wall of the aneurysmal sac, usually heralded by sudden worsening pain. The great danger of a ruptured aneurysm is the large amount of blood spilling into the surrounding tissues and cavities, causing HEMORRHAGIC SHOCK." [MESH:D017542]
synonym: "Ruptured Aneurysms" EXACT []
xref: MESH:D017542
is_a: DOID:9001665 ! Aneurysm

[Term]
id: DOID:9000769
name: Parotid Neoplasms
def: "Tumors or cancer of the PAROTID GLAND." []
synonym: "parotid neoplasm" EXACT []
xref: EFO:0003873
xref: MESH:D010307
is_a: DOID:10302 ! parotid disease
is_a: DOID:9003216 ! Salivary Gland Neoplasms

[Term]
id: DOID:9000770
name: Giant Cell Carcinoma
alt_id: RDO:0007162
def: "An epithelial neoplasm characterized by unusually large anaplastic cells. It is highly malignant with fulminant clinical course, bizarre histologic appearance and poor prognosis. It is most common in the lung and thyroid. (From Stedman, 25th ed & Segen, Dictionary of Modern Medicine, 1992)" []
synonym: "giant cell carcinomas" EXACT []
xref: MESH:D018286
is_a: DOID:4552 ! large cell carcinoma

[Term]
id: DOID:9000771
name: Diverticulosis of Bowel, Hernia, and Retinal Detachment
alt_id: MIM:223330
xref: MESH:C565619
is_a: DOID:5327 ! retinal detachment
is_a: DOID:9004681 ! Abdominal Hernia
is_a: DOID:9007768 ! Colonic Diverticulosis

[Term]
id: DOID:9000772
name: Bronchial Hyperreactivity
def: "Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory." [MESH:D016535]
synonym: "Bronchial Hyperreactivities" EXACT []
xref: MESH:D016535
is_a: DOID:1176 ! bronchial disease

[Term]
id: DOID:9000773
name: Congenital Facial Linear Porokeratosis
alt_id: RDO:0004563
xref: MESH:C538641
is_a: DOID:3134 ! facial dermatosis
is_a: DOID:3805 ! porokeratosis

[Term]
id: DOID:9000774
name: Brain Death
def: "A state of prolonged irreversible cessation of all brain activity, including lower brain stem function with the complete absence of voluntary movements, responses to stimuli, brain stem reflexes, and spontaneous respirations. Reversible conditions which mimic this clinical state (e.g., sedative overdose, hypothermia, etc.) are excluded prior to making the determination of brain death. (From Adams et al., Principles of Neurology, 6th ed, pp348-9)" [MESH:D001926]
synonym: "Brain Dead" EXACT []
synonym: "Brain Deads" EXACT []
synonym: "Coma Depasse" EXACT []
synonym: "Irreversible Coma" EXACT []
xref: MESH:D001926
is_a: DOID:9000543 ! Death
is_a: DOID:9006462 ! Coma
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9000775
name: Conduction Aphasia
def: "A type of fluent aphasia characterized by an impaired ability to repeat one and two word phrases, despite retained comprehension. This condition is associated with dominant hemisphere lesions involving the arcuate fasciculus (a white matter projection between Broca's and Wernicke's areas) and adjacent structures. Like patients with Wernicke aphasia (APHASIA, WERNICKE), patients with conduction aphasia are fluent but commit paraphasic errors during attempts at written and oral forms of communication. (From Adams et al., Principles of Neurology, 6th ed, p482; Brain & Bannister, Clinical Neurology, 7th ed, p142; Kandel et al., Principles of Neural Science, 3d ed, p848)" [MESH:D018886]
synonym: "Associative Aphasia" EXACT []
synonym: "Associative Aphasias" EXACT []
synonym: "Associative Dysphasia" EXACT []
synonym: "Associative Dysphasias" EXACT []
synonym: "Conduction Aphasias" EXACT []
synonym: "Conduction Dysphasia" EXACT []
synonym: "Conduction Dysphasias" EXACT []
xref: MESH:D018886
is_a: DOID:0060046 ! aphasia

[Term]
id: DOID:9000776
name: Hyperglycinemia, Lactic Acidosis, and Seizures
synonym: "HGCLAS" EXACT []
synonym: "PDHLD" EXACT []
synonym: "PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY" EXACT []
xref: MIM:614462
is_a: DOID:1826 ! epilepsy
is_a: DOID:3650 ! lactic acidosis
is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors

[Term]
id: DOID:9000777
name: Mitochondrial Cardiomyopathy
def: "A group of diseases in which the dominant feature is the involvement of the cardiac muscle, associated with abnormal mitochondria function." []
synonym: "EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA" NARROW []
synonym: "Mitochondrial cardiomyopathies" EXACT []
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9000778
name: Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects
alt_id: MIM:603642
xref: MESH:C566351
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:9000064 ! Cardiac Arrhythmias
is_a: DOID:9001510 ! Funnel Chest
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9000779
name: Hypospadias 1, X-Linked
alt_id: MIM:300633
synonym: "Hysp1" EXACT []
xref: MESH:C567482
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10892 ! hypospadias

[Term]
id: DOID:9000780
name: Hexokinase Deficiency Hemolytic Anemia
xref: MESH:C562995
xref: RDO:0012464
is_a: DOID:583 ! hemolytic anemia

[Term]
id: DOID:9000781
name: Cyanosis
def: "A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule." [MESH:D003490]
synonym: "Cyanoses" EXACT []
synonym: "HEMOGLOBIN DENVER" RELATED []
synonym: "HEMOGLOBIN FREIBURG" RELATED []
synonym: "Hemoglobin Kansas" RELATED []
synonym: "HEMOGLOBIN M (FREIBURG)" RELATED []
synonym: "HEMOGLOBIN REISSMANN ET AL." RELATED []
xref: MESH:D003490
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9000782
name: Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism
xref: MESH:C538079
xref: MIM:118301
xref: MONDO:0007312
is_a: DOID:0060260 ! ptosis
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
is_a: DOID:13548 ! secondary Parkinson disease

[Term]
id: DOID:9000783
name: Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities
alt_id: MIM:600461
xref: MESH:C563935
is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000784
name: Fibrosis
def: "Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury." [MESH:D005355]
synonym: "fibroses" EXACT []
xref: EFO:0006890
xref: MESH:D005355
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9000785
name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2
synonym: "PFBMFT2" EXACT []
synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2" EXACT []
xref: MIM:614743
is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related

[Term]
id: DOID:9000786
name: Cleft Palate with Ankyloglossia
xref: MESH:C564442
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10944 ! tongue disease
is_a: DOID:674 ! cleft palate

[Term]
id: DOID:9000787
name: Tachycardia, Atrioventricular Nodal Reentry
def: "Abnormally rapid heartbeats caused by reentry of atrial impulse into the dual (fast and slow) pathways of ATRIOVENTRICULAR NODE. The common type involves a blocked atrial impulse in the slow pathway which reenters the fast pathway in a retrograde direction and simultaneously conducts to the atria and the ventricles leading to rapid HEART RATE of 150-250 beats per minute." [MESH:D013611]
synonym: "Atrioventricular Nodal Reentrant Tachycardia" EXACT []
synonym: "AV Nodal Reentrant Tachycardia" EXACT []
xref: MESH:D013611
is_a: DOID:9007178 ! Reciprocating Tachycardia

[Term]
id: DOID:9000788
name: Preauricular Fistulae, Congenital
alt_id: MIM:128700
synonym: "Ear Pits" EXACT []
synonym: "PAFC" EXACT []
xref: MESH:C563015
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000789
name: Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus
synonym: "ADAMTS18-RELATED CONDITION" EXACT []
synonym: "MMCAT" EXACT []
xref: MIM:615458
is_a: DOID:10629 ! microphthalmia
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:9003591 ! Telecanthus
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9000790
name: Postoperative Complications
def: "Pathologic processes that affect patients after a surgical procedure. They may or may not be related to the disease for which the surgery was done, and they may or may not be direct results of the surgery." [MESH:D011183]
synonym: "Postoperative Complication" EXACT []
xref: MESH:D011183
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9000791
name: Mouth Breathing
def: "Abnormal breathing through the mouth, usually associated with obstructive disorders of the nasal passages." [MESH:D009058]
synonym: "Mouth Breathings" EXACT []
xref: MESH:D009058
is_a: DOID:9000575 ! Respiratory Signs and Symptoms
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:9000792
name: Methemoglobinemia, Beta-Globin Type
alt_id: MIM:617971
synonym: "erythremia, beta-globin type" EXACT []
synonym: "hemoglobin Athens-Georgia" RELATED []
synonym: "hemoglobin Birmingham (USA)" RELATED []
synonym: "hemoglobin D (Granada)" RELATED []
synonym: "HEMOGLOBIN DEACONESS" RELATED []
synonym: "HEMOGLOBIN M (AKITA)" RELATED []
synonym: "HEMOGLOBIN M (HYDE PARK)" RELATED []
synonym: "HEMOGLOBIN M (MILWAUKEE 1)" RELATED []
synonym: "HEMOGLOBIN M (MILWAUKEE 2)" RELATED []
synonym: "hemoglobin M (Radom)" RELATED []
synonym: "hemoglobin Sendagi" RELATED []
synonym: "hemoglobin Warsaw" RELATED []
synonym: "methemoglobinemia, beta type" EXACT []
xref: MESH:C564192
is_a: DOID:10783 ! methemoglobinemia

[Term]
id: DOID:9000793
name: Fine-Lubinsky Syndrome
alt_id: MIM:601353
synonym: "Brachycephaly, deafness, cataract and mental retardation" EXACT []
synonym: "Brachycephaly, deafness, cataract, microstomia, and impaired intellectual development" EXACT []
synonym: "Brachycephaly, deafness, cataract, microstomia, and mental retardation" EXACT []
xref: MESH:C537933
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:83 ! cataract
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9000794
name: Sporadic Creutzfeldt-Jakob Disease
xref: EFO:1000656
xref: MESH:C565143
is_a: DOID:11949 ! Creutzfeldt-Jakob disease

[Term]
id: DOID:9000795
name: Immunodeficiency 104
def: "An autosomal recessive disorder characterized by the onset of recurrent infections in early infancy. Caused by homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13." [MIM:608971]
synonym: "IL7R-RELATED CONDITION" EXACT []
synonym: "IMD104" EXACT []
synonym: "Immunodeficiency 104, severe combined" EXACT []
synonym: "severe combined immunodeficiency 104" EXACT []
xref: MIM:608971
xref: MONDO:0012163
is_a: DOID:0090014 ! severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
created_by: mtutaj
creation_date: 2022-07-05T12:21:07Z

[Term]
id: DOID:9000796
name: Autosomal Dominant Nonsyndromic Deafness 84
def: "This disease is characterized by slowly progressive nonsyndromic sensorineural hearing loss." [MIM:619810]
synonym: "autosomal dominant deafness-84" EXACT []
synonym: "DEAFNESS, AUTOSOMAL DOMINANT 84" EXACT []
synonym: "DFNA84" EXACT []
xref: MIM:619810
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: slaulede
creation_date: 2022-06-13T14:53:48Z

[Term]
id: DOID:9000798
name: High Serum Cholesterol, Familial
synonym: "Hyperlipidema, Familial" EXACT []
synonym: "Hyperlipoproteinemia, type 2 A" EXACT []
xref: MESH:C538646
is_a: DOID:9005519 ! Hyperlipoproteinemia Type II

[Term]
id: DOID:9000799
name: Nodular Lymphocytic Vasculitis
xref: MESH:C566008
xref: MIM:192310
xref: MONDO:0008640
is_a: DOID:75 ! lymphatic system disease
is_a: DOID:865 ! vasculitis

[Term]
id: DOID:9000800
name: Iris Dysplasia Hypertelorism Deafness
xref: MESH:C535537
xref: RDO:0000710
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:9001487 ! Facies
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000801
name: Chromosome 21, Tetrasomy 21q
synonym: "Tetrasomy 21q" EXACT []
xref: MESH:C536793
xref: RDO:0002484
is_a: DOID:9008692 ! Aneuploidy

[Term]
id: DOID:9000802
name: Lingual Nerve Injuries
def: "Traumatic injuries to the LINGUAL NERVE. It may be a complication following dental treatments." [MESH:D061222]
synonym: "Lingual Nerve Contusion" EXACT []
synonym: "Lingual Nerve Contusions" EXACT []
synonym: "Lingual Nerve Injury" EXACT []
synonym: "Lingual Nerve Transection" EXACT []
synonym: "Lingual Nerve Transections" EXACT []
synonym: "Lingual Neuropathy, Traumatic" EXACT []
xref: MESH:D061222
xref: RDO:0010059
is_a: DOID:9006864 ! Trigeminal Nerve Injuries

[Term]
id: DOID:9000803
name: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
def: "A form of visceral myopathy characterized by significant inter- and intrafamilial variability, with the most severely affected patients exhibiting prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization. Caused by heterozygous mutation in the ACTG2 gene on chromosome 2p13. (OMIM)" []
synonym: "MMIHS5" EXACT []
xref: EFO:0020038
xref: MIM:619431
is_a: DOID:0060610 ! megacystis-microcolon-intestinal hypoperistalsis syndrome
created_by: mtutaj
creation_date: 2021-07-16T16:19:50Z

[Term]
id: DOID:9000804
name: Intellectual Developmental Disorder with Seizures and Language Delay
def: "This disease is characterized by global developmental delay with speech and language impairment and onset of seizures usually in the first few years of life." [MIM:619000]
synonym: "IDDSELD" EXACT []
synonym: "SETD1B-ASSOCIATED DISORDER" EXACT []
synonym: "SETD1B-RELATED CONDITION" EXACT []
xref: MIM:619000
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:9005466 ! Language Development Disorders
created_by: mtutaj
creation_date: 2020-09-18T10:13:51Z

[Term]
id: DOID:9000805
name: Femoral Neoplasms
alt_id: RDO:0005591
def: "New abnormal growth of tissue in the FEMUR." []
synonym: "femoral neoplasm" EXACT []
synonym: "neoplasm of femur" EXACT []
xref: MESH:D005266
is_a: DOID:9004389 ! Bone Neoplasms

[Term]
id: DOID:9000806
name: Metaphyseal Anadysplasia 2
alt_id: MIM:613073
synonym: "MANDP2" EXACT []
synonym: "METAPHYSEAL ANADYSPLASIA 2, AUTOSOMAL RECESSIVE" NARROW []
xref: MESH:C567771
is_a: DOID:9001193 ! Metaphyseal Anadysplasia

[Term]
id: DOID:9000807
name: Megaduodenum
synonym: "Fetal megacystis" EXACT []
synonym: "Megacystis" EXACT []
xref: MESH:C536139
xref: RDO:0001591
is_a: DOID:9001984 ! Fetal Diseases

[Term]
id: DOID:9000808
name: Hypercholesterolemia
def: "A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population." [MESH:D006937]
synonym: "elevated cholesterol" EXACT []
synonym: "Elevated Cholesterols" EXACT []
synonym: "High Cholesterol Level" EXACT []
synonym: "High Cholesterol Levels" EXACT []
synonym: "Hypercholesteremia" EXACT []
synonym: "Hypercholesteremias" EXACT []
synonym: "hypercholesterolaemia" EXACT []
synonym: "hypercholesterolemias" EXACT []
synonym: "HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO" RELATED []
xref: MESH:D006937
is_a: DOID:1168 ! familial hyperlipidemia

[Term]
id: DOID:9000810
name: HYPERTRIGLYCERIDEMIA 1
synonym: "Familial Hypertriglyceridemia" EXACT []
synonym: "HYPERTRIGLYCERIDEMIA, FAMILIAL" EXACT []
synonym: "HYTG1" EXACT []
xref: MIM:145750
is_a: DOID:9006599 ! Hypertriglyceridemia
created_by: slaulede
creation_date: 2021-08-13T13:04:54Z

[Term]
id: DOID:9000812
name: Acroosteolysis Dominant Type
xref: MESH:C535663
is_a: DOID:9001402 ! Acro-Osteolysis

[Term]
id: DOID:9000813
name: Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation
alt_id: MIM:270950
xref: MESH:C564808
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12835 ! quadriplegia

[Term]
id: DOID:9000814
name: Mucopolysaccharidosis X
def: "An autosomal recessive childhood-onset disorder associated with disproportionate short-trunk short stature, and skeletal, cardiac and ophthalmologic abnormalities. Caused by homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15." [MIM:619698]
synonym: "ARSK deficiency" EXACT []
synonym: "arylsulfatase K deficiency" EXACT []
synonym: "MPS10" EXACT []
synonym: "mucopolysaccharidosis type X" EXACT []
xref: MIM:619698
is_a: DOID:12798 ! mucopolysaccharidosis
created_by: mtutaj
creation_date: 2022-01-10T10:20:27Z

[Term]
id: DOID:9000815
name: Aortic Calcification
def: "Calcification of the aorta involves early deposition of calcium in the formation of an atherosclerotic plaque." []
synonym: "AAC" RELATED []
synonym: "abdominal aortic artery calcification" NARROW []
synonym: "abdominal aortic calcification" NARROW []
synonym: "aorta calcification" EXACT []
synonym: "aortic artery calcification" EXACT []
synonym: "thoracic aortic artery calcification" NARROW []
synonym: "thoracic aortic calcification" NARROW []
xref: EFO:0004859
xref: EFO:0010274
is_a: DOID:0111582 ! hereditary arterial and articular multiple calcification syndrome
is_a: DOID:9006332 ! Vascular Calcification

[Term]
id: DOID:9000816
name: Chronic Pericardial Effusion
alt_id: MIM:260900
synonym: "cholesterol pericarditis" EXACT []
xref: MESH:C564895
is_a: DOID:118 ! pericardial effusion
is_a: DOID:1787 ! pericarditis

[Term]
id: DOID:9000817
name: Disease Attributes
def: "Clinical characteristics of disease or illness." [MESH:D020969]
synonym: "Disease Attribute" EXACT []
xref: MESH:D020969
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9000818
name: vitreous prolapse
def: "This disease involves prolapse of the vitreous material through a defect in the zonule around the lens and into the anterior chamber." [EFO:0008625]
synonym: "intraocular content prolapse" EXACT []
synonym: "prolapse of the intraocular contents" EXACT []
synonym: "prolapse of vitreous body" EXACT []
xref: EFO:0008625
is_a: DOID:9720 ! vitreous disease
created_by: slaulede
creation_date: 2022-12-13T17:05:03Z

[Term]
id: DOID:9000819
name: Stickler Syndrome, Type VI
def: "A disease characterized by early-onset progressive hearing loss and progressive myopia, with variable manifestation of facial dysmorphism and skeletal anomalies. Caused by homozygous or compound heterozygous mutation in the COL9A3 gene on chromosome 20q13." [MIM:620022]
synonym: "STL6" EXACT []
xref: MIM:620022
is_a: DOID:0080046 ! Stickler syndrome
created_by: mtutaj
creation_date: 2022-09-06T08:42:23Z

[Term]
id: DOID:9000820
name: GSD IV, Classic Hepatic
xref: MESH:C565539
xref: RDO:0014147
is_a: DOID:2750 ! glycogen storage disease IV

[Term]
id: DOID:9000821
name: Myocardial Bridging
def: "A malformation that is characterized by a muscle bridge over a segment of the CORONARY ARTERIES. Systolic contractions of the muscle bridge can lead to narrowing of coronary artery; coronary compression; MYOCARDIAL ISCHEMIA; MYOCARDIAL INFARCTION; and SUDDEN CARDIAC DEATH." [MESH:D054084]
synonym: "Myocardial Bridgings" EXACT []
xref: MESH:D054084
xref: RDO:0007656
is_a: DOID:9000018 ! Coronary Vessel Anomalies

[Term]
id: DOID:9000823
name: Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull
alt_id: MIM:601163
synonym: "Froster syndrome" EXACT []
xref: MESH:C563380
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9000824
name: Dysautonomia Like Disorder
alt_id: MIM:224000
xref: MESH:C535728
is_a: DOID:9003171 ! Primary Dysautonomias

[Term]
id: DOID:9000825
name: Neurothekeoma
def: "A benign myxoma of cutaneous nerve sheath origin. Theke is from the Greek theke, sheath. (From Stedman, 25th ed)" [MESH:D018321]
synonym: "Nerve Sheath Myxoma" EXACT []
synonym: "Nerve Sheath Myxomas" EXACT []
synonym: "Neurotheceoma" EXACT []
synonym: "Neurotheceomas" EXACT []
synonym: "Neurothecoma" EXACT []
synonym: "Neurothecomas" EXACT []
synonym: "Neurothekeomas" EXACT []
xref: EFO:1000394
xref: MESH:D018321
is_a: DOID:9003253 ! Myxoma
is_a: DOID:9004217 ! Nerve Sheath Neoplasms

[Term]
id: DOID:9000826
name: Sternocostoclavicular Hyperostosis
alt_id: RDO:0006854
def: "A rare, benign rheumatologic disorder or syndrome characterized by hyperostosis and soft tissue ossification between the clavicles and the anterior part of the upper ribs. It is often associated with the dermatologic disorder palmoplantar pustulosis, particularly in Japan. Careful diagnosis is required to distinguish it from psoriatic arthritis, OSTEITIS DEFORMANS, and other diseases. Spondylitis of pustulosis palmaris et plantaris is one of the possible causes; also, evidence suggests one origin may be bone infection. Bone imaging is especially useful for diagnosis. It was originally described by Sonozaki in 1974." [MESH:D015218]
synonym: "Sternocostoclavicular Hyperostoses" EXACT []
xref: MESH:D015218
is_a: DOID:1575 ! rheumatic disease
is_a: DOID:205 ! hyperostosis

[Term]
id: DOID:9000827
name: Primary Retinal Dysplasia
synonym: "PRD" EXACT []
xref: MIM:312550
xref: RDO:0008712
is_a: DOID:9006597 ! Retinal Dysplasia

[Term]
id: DOID:9000828
name: Human Spumaretrovirus Infection
synonym: "Human spumaretroviridae infection" EXACT []
xref: MESH:C536069
xref: RDO:0001492
is_a: DOID:9006644 ! Retroviridae Infections

[Term]
id: DOID:9000829
name: Acute Rheumatism
xref: MESH:C538407
xref: RDO:0004385
is_a: DOID:1575 ! rheumatic disease

[Term]
id: DOID:9000831
name: Hypokinesia
def: "Slow or diminished movement of body musculature. It may be associated with BASAL GANGLIA DISEASES; MENTAL DISORDERS; prolonged inactivity due to illness; and other conditions." [MESH:D018476]
synonym: "Antiorthostatic Hypokinesia" EXACT []
synonym: "Antiorthostatic Hypokinesias" EXACT []
synonym: "Bradykinesia" EXACT []
synonym: "Bradykinesias" EXACT []
synonym: "Hypodynamia" EXACT []
xref: MESH:D018476
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9000832
name: Congenital Neuropathy with Arthrogryposis Multiplex
alt_id: MIM:162370
synonym: "Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex" EXACT []
xref: MESH:C535714
is_a: DOID:0080954 ! arthrogryposis multiplex congenita

[Term]
id: DOID:9000833
name: X Chromosome, Trisomy Xp3
synonym: "Duplication Xp3" EXACT []
synonym: "Trisomy Xp3" EXACT []
xref: MESH:C536756
xref: RDO:0002436
is_a: DOID:9003307 ! Sex Chromosome Aberrations
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9000834
name: Chitty Hall Baraitser Syndrome
alt_id: MIM:601351
synonym: "Deafness, femoral epiphyseal dysplasia, short stature and developmental delay" EXACT []
synonym: "Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction" EXACT []
xref: MESH:C535928
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:13929 ! lacrimal duct obstruction
is_a: DOID:225 ! syndrome
is_a: DOID:9002278 ! Metabolic Bone Diseases
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9000835
name: Anterior Diaphragmatic Hernia
alt_id: MIM:306950
synonym: "Diaphragmatic hernia 5, X-linked" EXACT []
synonym: "DIH5" EXACT []
xref: MESH:C564413
is_a: DOID:3827 ! congenital diaphragmatic hernia

[Term]
id: DOID:9000836
name: Diaphanospondylodysostosis
alt_id: MIM:608022
synonym: "defect in vertebral ossification with nephrogenic rests" EXACT []
xref: MESH:C564305
is_a: DOID:1934 ! dysostosis
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000837
name: Esophageal Stenosis
def: "A stricture of the ESOPHAGUS. Most are acquired but can be congenital." [MESH:D004940]
synonym: "Esophageal Stenoses" EXACT []
synonym: "Esophageal Stricture" EXACT []
xref: MESH:D004940
is_a: DOID:6050 ! esophageal disease

[Term]
id: DOID:9000838
name: Growth Mental Deficiency Syndrome of Myhre
alt_id: MIM:139210
synonym: "HERITABLE THORACIC AORTIC DISEASE" NARROW []
synonym: "HERITABLE THORACIC AORTIC DISEASE WITHOUT JUVENILE POLYPOSIS AND HEREDITARY HEMORRHAGIC TELANGIECTASIA" NARROW []
synonym: "LAPS" EXACT []
synonym: "Laps Syndrome" EXACT []
synonym: "Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature" EXACT []
synonym: "Myhre syndrome" EXACT []
synonym: "MYHRS" EXACT []
xref: MESH:C537620
xref: NCI:C123815
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:9001487 ! Facies
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9000839
name: Ichthyosis Hystrix Gravior
alt_id: MIM:146600
synonym: "IHL" EXACT []
synonym: "Lambert type ichthyosis" EXACT []
synonym: "Lambert type ichthyosis hystrix" EXACT []
synonym: "Lambert type of ichthyosis hystrix" EXACT []
synonym: "Porcupine man" EXACT []
xref: MESH:C536087
is_a: DOID:2615 ! papilloma
is_a: DOID:9000971 ! Ichthyosis Hystrix

[Term]
id: DOID:9000840
name: Herpes Simplex Encephalitis 7
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7" RELATED []
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 7" RELATED []
synonym: "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 5" RELATED []
synonym: "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7" RELATED []
synonym: "IIAE7" EXACT []
xref: MIM:616532
is_a: DOID:9003870 ! Herpes Simplex Encephalitis
created_by: rgd
creation_date: 2017-07-11T00:00:00Z

[Term]
id: DOID:9000841
name: Community-Acquired Infections
def: "Any infection acquired in the community, that is, contrasted with those acquired in a health care facility (CROSS INFECTION). An infection would be classified as community-acquired if the patient had not recently been in a health care facility or been in contact with someone who had been recently in a health care facility." [MESH:D017714]
synonym: "Community-Acquired Infection" EXACT []
xref: MESH:D017714
xref: RDO:0007072
is_a: DOID:0050117 ! disease by infectious agent

[Term]
id: DOID:9000842
name: Proteostasis Deficiencies
def: "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins." [MESH:D057165]
synonym: "Protein Folding Disease" EXACT []
synonym: "protein folding diseases" EXACT []
synonym: "Protein Folding Disorder" EXACT []
synonym: "Protein Folding Disorders" EXACT []
synonym: "Protein Misfolding Disease" EXACT []
synonym: "Protein Misfolding Diseases" EXACT []
synonym: "Protein Misfolding Disorder" EXACT []
synonym: "Protein Misfolding Disorders" EXACT []
synonym: "Proteostasis Deficiency" EXACT []
synonym: "Proteostasis Dysfunction" EXACT []
synonym: "proteostasis dysfunctions" EXACT []
xref: MESH:D057165
is_a: DOID:0014667 ! disease of metabolism

[Term]
id: DOID:9000843
name: Acne Conglobata
def: "Severe and chronic form of acne characterized by large, burrowing abscesses associated with disfigurement." [MESH:D000069316]
synonym: "Acne Conglobatas" EXACT []
xref: MESH:D000069316
is_a: DOID:6543 ! acne

[Term]
id: DOID:9000844
name: Oculopharyngeal Muscular Dystrophy 2
def: "An autosomal dominant muscle disorder characterized by early-onset ptosis, ophthalmoplegia, dysphagia, variable respiratory insufficiency, and proximal limb muscle weakness. Caused by heterozygous mutation in the HNRNPA2B1 gene on chromosome 7p15." [MIM:620460]
synonym: "OPMD2" EXACT []
xref: MIM:620460
is_a: DOID:929 ! myopathy of extraocular muscle
is_a: DOID:9884 ! muscular dystrophy
created_by: mtutaj
creation_date: 2023-08-04T10:00:38Z

[Term]
id: DOID:9000846
name: Say Syndrome
alt_id: MIM:181180
synonym: "cleft palate large ears small head" EXACT []
synonym: "cleft palate, microcephaly, large ears, and short stature" EXACT []
synonym: "Say Barber Hobbs syndrome" EXACT []
xref: MESH:C536621
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000847
name: Burnett Schwartz Berberian Syndrome
synonym: "Amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2" EXACT []
synonym: "Atrophodermia reticulata" EXACT []
synonym: "Atrophodermia Reticulata Symmetrica Faciei" EXACT []
synonym: "Atrophodermia vermiculata" EXACT []
synonym: "Folliculitis ulerythematosa" EXACT []
synonym: "Folliculitis ulerythematosa reticulata" EXACT []
synonym: "Honeycomb atrophy" EXACT []
synonym: "Keratosis pilaris" EXACT []
synonym: "Keratosis Pilaris Atrophicans Facies" EXACT []
synonym: "Ulerythema ophryogenes" EXACT []
synonym: "Ulerythema ophryogenesis" EXACT []
synonym: "Ulerythema ophryogenes with multiple congenital anomalies" EXACT []
xref: MESH:C537412
xref: RDO:0003253
is_a: DOID:0110059 ! X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
is_a: DOID:225 ! syndrome
is_a: DOID:2734 ! keratosis follicularis
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000848
name: Charcot-Marie-Tooth Disease Type 1H
def: "An autosomal dominant peripheral sensorimotor neuropathy with onset usually in adulthood (third to fifth decades). Affected individuals present with foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Caused by heterozygous mutation in the gene encoding fibulin-5 (FBLN5) on chromosome 14q32." [MIM:619764]
synonym: "Charcot-Marie-Tooth neuropathy type 1H" EXACT []
synonym: "CMT1H" EXACT []
synonym: "demyelinating Charcot-Marie-Tooth disease type 1H" EXACT []
synonym: "hereditary motor and sensory neuropathy, IH" EXACT []
synonym: "hereditary neuropathy with or without age-related macular degeneration" EXACT []
synonym: "HNARMD" EXACT []
xref: MIM:619764
is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1
created_by: mtutaj
creation_date: 2022-03-07T10:19:50Z

[Term]
id: DOID:9000849
name: Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
xref: MIM:616108
xref: RDO:9001211
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:8501 ! fundus dystrophy
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9000850
name: Junctional Epidermolysis Bullosa 1A, Intermediate
synonym: "JEB1A" EXACT []
synonym: "junctional epidermolysis bullosa 1A, generalized intermediate" EXACT []
synonym: "junctional epidermolysis bullosa 1A, non-Herlitz type" EXACT []
xref: MIM:226650
is_a: DOID:0060738 ! junctional epidermolysis bullosa non-Herlitz type
created_by: mtutaj
creation_date: 2022-06-07T11:18:59Z

[Term]
id: DOID:9000851
name: Congenital Cerebral Granulomas
alt_id: MIM:306300
xref: MESH:C537294
is_a: DOID:9002019 ! Granuloma
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9000852
name: Severe Congenital Neutropenia 9, Autosomal Dominant
def: "Characterized by onset of neutropenia in the first years of life. Caused by heterozygous mutation in the CLPB gene on chromosome 11q13." [MIM:619813]
synonym: "SCN9" EXACT []
xref: MIM:619813
is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia
created_by: mtutaj
creation_date: 2022-04-12T14:34:15Z

[Term]
id: DOID:9000853
name: Acropectoral Syndrome
alt_id: MIM:605967
synonym: "ACRPS" EXACT []
synonym: "ACRP SYNDROME" EXACT []
synonym: "DUNDAR ACROPECTORAL SYNDROME" EXACT []
synonym: "Syndactyly, preaxial polydactyly, and sternal deformity" EXACT []
xref: MESH:C535664
xref: RDO:0000913
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9000854
name: Lethal Congenital Contracture Syndrome 7
alt_id: RDO:9001627
def: "An axoglial form of arthrogryposis multiplex congenita, that is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. (OMIM)" []
synonym: "LCCS7" EXACT []
xref: MIM:616286
is_a: DOID:0060558 ! lethal congenital contracture syndrome

[Term]
id: DOID:9000855
name: Experimental Radiation Injuries
def: "Experimentally produced harmful effects of ionizing or non-ionizing RADIATION in CHORDATA animals." [MESH:D011833]
synonym: "Experimental Radiation Injury" EXACT []
xref: MESH:D011833
is_a: DOID:9000111 ! Radiation Injuries
is_a: DOID:9006205 ! Animal Disease Models

[Term]
id: DOID:9000856
name: FG Syndrome 5
alt_id: MIM:300581
synonym: "FGS5" EXACT []
xref: MESH:C564480
is_a: DOID:14711 ! FG syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000857
name: Chromosome 17 Trisomy
synonym: "Chromosome 17 duplication" EXACT []
synonym: "Trisomy 17" EXACT []
synonym: "Trisomy 17 mosaicism" EXACT []
xref: MESH:C538044
xref: NCI:C37865
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9000858
name: Idiopathic Basal Ganglia Calcification 4
alt_id: RDO:9000194
synonym: "IBGC4" EXACT []
xref: MIM:615007
is_a: DOID:0060230 ! basal ganglia calcification

[Term]
id: DOID:9000859
name: Infectious Skin Diseases
alt_id: RDO:0005153
def: "Skin diseases caused by bacteria, fungi, parasites, or viruses." [MESH:D012874]
synonym: "Infectious Skin Disease" EXACT []
xref: MESH:D012874
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9000860
name: Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency
alt_id: MIM:125890
xref: MESH:C565099
is_a: DOID:0050129 ! secretory diarrhea
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9000862
name: Glaucoma 1, Open Angle, N
alt_id: MIM:611274
synonym: "GLC1N" EXACT []
xref: MESH:C566977
is_a: DOID:1070 ! primary open angle glaucoma

[Term]
id: DOID:9000863
name: Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression
xref: MESH:C567267
is_a: DOID:0070112 ! Niemann-Pick disease type B

[Term]
id: DOID:9000864
name: Lymphokine Deficiency
alt_id: MIM:247650
xref: MESH:C565428
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9000865
name: Amastia
synonym: "absent breasts and nipples" EXACT []
synonym: "amazia" RELATED []
synonym: "athelia" RELATED []
synonym: "complete absence of breasts" EXACT []
xref: MESH:C562989
xref: MIM:PS113700
is_a: DOID:3463 ! breast disease
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9000866
name: Mauriac Syndrome
synonym: "Dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome" EXACT []
synonym: "Mauriac's syndrome" EXACT []
is_a: DOID:9002661 ! Diabetes Complications
is_a: DOID:9744 ! type 1 diabetes mellitus
created_by: rgd
creation_date: 2016-11-09T00:00:00Z

[Term]
id: DOID:9000868
name: Immunodeficiency 86
def: "An autosomal recessive immunologic disorder characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine. Caused by homozygous mutation in the SPPL2A gene on chromosome 15q21. (OMIM)" []
synonym: "IMD86" EXACT []
synonym: "immunodeficiency 86, mycobacteriosis" EXACT []
xref: MIM:619549
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9001415 ! Mycobacterium Infections
created_by: mtutaj
creation_date: 2021-10-15T14:31:16Z

[Term]
id: DOID:9000869
name: Cole Disease
synonym: "COLED" EXACT []
synonym: "GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION" EXACT []
xref: MIM:615522
is_a: DOID:182 ! calcinosis
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:9005660 ! Hypopigmentation

[Term]
id: DOID:9000871
name: Glossopharyngeal Nerve Injuries
alt_id: RDO:0010068
def: "Traumatic injuries to the GLOSSOPHARYNGEAL NERVE." [MESH:D061287]
synonym: "Cranial Nerve IX Injury" EXACT []
synonym: "Glossopharyngeal Nerve Avulsion" EXACT []
synonym: "Glossopharyngeal Nerve Avulsions" EXACT []
synonym: "Glossopharyngeal Nerve Contusion" EXACT []
synonym: "Glossopharyngeal Nerve Contusions" EXACT []
synonym: "Glossopharyngeal Nerve Injury" EXACT []
synonym: "Glossopharyngeal Nerve Transection" EXACT []
synonym: "Glossopharyngeal Nerve Transections" EXACT []
synonym: "Glossopharyngeal Nerve Trauma" EXACT []
synonym: "Glossopharyngeal Nerve Traumas" EXACT []
synonym: "Ninth Cranial Nerve Injuries" EXACT []
synonym: "Ninth Cranial Nerve Injury" EXACT []
synonym: "Ninth Nerve Trauma" EXACT []
synonym: "Ninth-Nerve Traumas" EXACT []
synonym: "Traumatic Glossopharyngeal Neuropathies" EXACT []
synonym: "Traumatic Glossopharyngeal Neuropathy" EXACT []
synonym: "Traumatic Ninth-Nerve Palsies" EXACT []
synonym: "Traumatic Ninth Nerve Palsy" EXACT []
xref: MESH:D061287
is_a: DOID:3418 ! glossopharyngeal nerve disease
is_a: DOID:9000598 ! Cranial Nerve Injuries

[Term]
id: DOID:9000872
name: Charcot-Marie-Tooth Disease Type 6C
synonym: "CMT6C" EXACT []
synonym: "hereditary motor and sensory neuropathy type VIC" EXACT []
synonym: "hereditary motor and sensory neuropathy type VIC, with optic atrophy" EXACT []
synonym: "HMSN6C" EXACT []
synonym: "HMSN VIC" EXACT []
xref: MIM:618511
is_a: DOID:0080068 ! Charcot-Marie-Tooth disease type 6
created_by: mtutaj
creation_date: 2019-09-09T09:47:33Z

[Term]
id: DOID:9000873
name: Adenoviridae Infections
def: "Virus diseases caused by the ADENOVIRIDAE." [MESH:D000257]
synonym: "Adenoviridae Infection" EXACT []
synonym: "Adenovirus Infection" EXACT []
synonym: "Adenovirus Infections" EXACT []
xref: EFO:1001259
xref: MESH:D000257
xref: RDO:0004743
is_a: DOID:9000251 ! DNA Virus Infections

[Term]
id: DOID:9000874
name: Hyperparathyroidism, Neonatal Severe Primary
alt_id: MIM:239200
synonym: "HYPERPARATHYROIDISM, NEONATAL SEVERE" EXACT []
synonym: "NHPT" EXACT []
synonym: "NSHPT" EXACT []
synonym: "NSPH" EXACT []
xref: MESH:C563375
xref: NCI:C131853
is_a: DOID:11202 ! primary hyperparathyroidism
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9000875
name: Fructose Metabolism, Inborn Errors
def: "Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test." [MESH:D015318]
xref: MESH:D015318
xref: RDO:0004002
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:9000876
name: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME
def: "This disease is an autosomal recessive disorder characterized mainly by global developmental delay and mildly impaired intellectual development (IQ range 77 to 85), often with behavioral abnormalities, including autism spectrum disorder and hyperactivity." [MIM:619955]
synonym: "DWOPNED" EXACT []
synonym: "PLXNA1-RELATED CONDITION" EXACT []
synonym: "PLXNA1-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
xref: MIM:619955
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2022-12-06T11:54:16Z

[Term]
id: DOID:9000877
name: Rhinosinusitis, Allergic Fungal
def: "Inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES due to an allergic reaction to aerosolized environmental fungi, usually of the dematiaceous species, in an immunocompetent host." []
synonym: "AFRS" EXACT []
synonym: "AFS" RELATED []
synonym: "Allergic Fungal Sinusitis" RELATED []
is_a: DOID:9004198 ! Allergic Rhinosinusitis

[Term]
id: DOID:9000879
name: Negative Rheumatoid Factor Polyarthritis
synonym: "RF-ve CP" EXACT []
synonym: "Rheumatoid factor negative erosive chronic polyarthritis" EXACT []
xref: MESH:C538347
xref: RDO:0004314
is_a: DOID:848 ! arthritis

[Term]
id: DOID:9000880
name: Cataract Ataxia Deafness
alt_id: MIM:212710
synonym: "Begeer syndrome" EXACT []
synonym: "Cataract-ataxia-deafness-retardation syndrome" EXACT []
synonym: "Cataract ataxia deafness syndrome" EXACT []
synonym: "Polyneuropathy-Cataract-Deafness Syndrome" EXACT []
xref: MESH:C538283
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:83 ! cataract
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9000882
name: Pseudohypoparathyroidism Type IC
alt_id: MIM:612462
alt_id: RDO:0004656
synonym: "PHP1C" EXACT []
synonym: "PHP IC" EXACT []
synonym: "Pseudohypoparathyroidism Type 1C" EXACT []
xref: MESH:C548076
is_a: DOID:4184 ! pseudohypoparathyroidism

[Term]
id: DOID:9000883
name: Familial Reactive Perforating Collagenosis
alt_id: MIM:216700
xref: MESH:C565687
is_a: DOID:854 ! collagen disease
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9000884
name: Rhabdomyolysis
alt_id: MIM:620235
def: "Necrosis or disintegration of skeletal muscle often followed by myoglobinuria." [MESH:D012206]
synonym: "OBSCN-RELATED CONDITION" EXACT []
synonym: "RHABDO1" RELATED []
synonym: "Rhabdomyolyses" EXACT []
synonym: "Rhabdomyolysis, susceptibility to, 1" RELATED []
xref: EFO:0003867
xref: MESH:D012206
is_a: DOID:0080000 ! muscular disease

[Term]
id: DOID:9000885
name: Macrosomia with Lethal Microphthalmia
alt_id: MIM:248110
synonym: "Macrosomia microphthalmia cleft palate" EXACT []
synonym: "Teebi Al-Saleh Hassoon syndrome" EXACT []
xref: MESH:C537830
is_a: DOID:10629 ! microphthalmia
is_a: DOID:674 ! cleft palate
is_a: DOID:9002427 ! Fetal Macrosomia
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000886
name: Roifman-Chitayat Syndrome
alt_id: MIM:613328
def: "Thios disease is an autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures, ataxia, and optic atrophy, dysmorphic facial features, distal skeletal anomalies, and combined immunodeficiency manifest as recurrent infections." []
synonym: "combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay" EXACT []
synonym: "ROCHIS" EXACT []
synonym: "ROIFMAN-CHITAYAT SYNDROME, DIGENIC" EXACT []
xref: MESH:C567641
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1891 ! optic nerve disease
is_a: DOID:225 ! syndrome
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9000887
name: Muscular Dystrophy, Animal
def: "MUSCULAR DYSTROPHY that occurs in VERTEBRATE animals." [MESH:D009137]
synonym: "Animal Muscular Dystrophies" EXACT []
xref: MESH:D009137
xref: RDO:0006157
is_a: DOID:9004985 ! Animal Diseases
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9000888
name: Pregnancy in Diabetics
def: "The state of PREGNANCY in women with DIABETES MELLITUS. This does not include either symptomatic diabetes or GLUCOSE INTOLERANCE induced by pregnancy (DIABETES, GESTATIONAL) which resolves at the end of pregnancy." [MESH:D011254]
synonym: "Pregnancy in Diabete" EXACT []
synonym: "Pregnancy in Diabetes" EXACT []
synonym: "Pregnancy in Diabetic" EXACT []
xref: MESH:D011254
xref: RDO:0002156
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9000889
name: Escherichia Coli Meningitis
def: "A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" [MESH:D020814]
synonym: "Escherichia coli Meningitides" EXACT []
xref: EFO:1000929
xref: MESH:D020814
is_a: DOID:9002953 ! Escherichia Coli Infections
is_a: DOID:9470 ! bacterial meningitis

[Term]
id: DOID:9000890
name: Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones
alt_id: MIM:157800
synonym: "CARDIOSPONDYLOCARPOFACIAL SYNDROME" EXACT []
synonym: "CSCF" EXACT []
xref: MESH:C563572
xref: NCI:C188216
is_a: DOID:11502 ! mitral valve insufficiency
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9000891
name: Hereditary Bilateral Parotidomegaly
alt_id: MIM:168800
xref: MESH:C566821
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9000892
name: Fetal Distress
def: "A nonreassuring fetal status (NRFS) indicating that the FETUS is compromised (American College of Obstetricians and Gynecologists 1988). It can be identified by sub-optimal values in FETAL HEART RATE; oxygenation of FETAL BLOOD; and other parameters." [MESH:D005316]
synonym: "Nonreassuring Fetal Status" EXACT []
xref: MESH:D005316
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9000893
name: High-Frequency Deafness, Sensorineural, X-Linked
xref: MESH:C564432
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9008455 ! High-Frequency Hearing Loss

[Term]
id: DOID:9000894
name: Benign Skin Neoplasms, Epithelial
def: "A benign proliferation or tumor of epithelial origin in the skin." []
synonym: "Benign epithelial neoplasm of skin" EXACT []
synonym: "Benign tumor of surface epithelium" EXACT []
xref: RDO:9000114
is_a: DOID:3165 ! skin benign neoplasm

[Term]
id: DOID:9000895
name: Preterm Intraventricular Hemorrhage
synonym: "GRADE 1 PRETERM INTRAVENTRICULAR HEMORRHAGE" NARROW []
synonym: "GRADE I PRETERM INTRAVENTRICULAR HEMORRHAGE" NARROW []
xref: ClinVar:VCV001077148.1
is_a: DOID:9000610 ! Obstetric Labor Complications
is_a: DOID:9001585 ! Intraventricular Hemorrhage
created_by: slaulede
creation_date: 2019-07-09T11:27:14Z

[Term]
id: DOID:9000896
name: Larsen-Like Syndromes
alt_id: MIM:608545
alt_id: RDO:0013043
synonym: "Larsen-Like Syndrome" EXACT []
synonym: "LRSL" EXACT []
xref: MESH:C563914
is_a: DOID:9001487 ! Facies
is_a: DOID:9003279 ! Joint Dislocations
is_a: DOID:9004353 ! Larsen Syndromes
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000897
name: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME
def: "A neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development with language delay, and mild dysmorphic features." [MIM:618974]
synonym: "LIGOWS" EXACT []
xref: MIM:618974
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005466 ! Language Development Disorders
created_by: slaulede
creation_date: 2020-12-14T17:26:44Z

[Term]
id: DOID:9000898
name: Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism
alt_id: MIM:601217
xref: MESH:C563370
is_a: DOID:0080627 ! alopecia-mental retardation syndrome
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:1924 ! hypogonadism

[Term]
id: DOID:9000899
name: Charcot-Marie-Tooth Disease Axonal Type 2II
def: "An autosomal dominant neurologic disorder characterized by a slowly progressive sensorimotor peripheral neuropathy affecting mainly the lower limbs, resulting in distal muscle weakness and atrophy and subsequent walking difficulties. Caused by heterozygous mutation in the SLC12A6 gene on chromosome 15q13." [MIM:620068]
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II" EXACT []
synonym: "CMT2II" EXACT []
synonym: "SLC12A6-RELATED CONDITION" EXACT []
xref: MIM:620068
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
created_by: mtutaj
creation_date: 2022-10-10T15:29:52Z

[Term]
id: DOID:9000900
name: Delusional Parasitosis
def: "A delusional disorder of belief in infestation by insects or other parasites. This FORMICATION is typically accompanied by dermatological manifestation such as PRURITUS that may lead to self-mutilation in order to remove the perceived parasites. It can be either primary or secondary to a somatic or psychiatric condition." [MESH:D063726]
synonym: "Delusional Parasitoses" EXACT []
synonym: "Delusory Parasitoses" EXACT []
synonym: "Delusory Parasitosis" EXACT []
synonym: "Dermatozoic Delusion" EXACT []
synonym: "Dermatozoic Delusions" EXACT []
synonym: "Ekbom Delusional Parasitoses" EXACT []
synonym: "Ekbom Delusional Parasitosis" EXACT []
synonym: "Ekbom Delusory Parasitoses" EXACT []
synonym: "Ekbom Delusory Parasitosis" EXACT []
synonym: "Ekbom Dermatozoic Delusion" EXACT []
synonym: "Ekbom Dermatozoic Delusions" EXACT []
synonym: "Ekbom Psychogenic Parasitoses" EXACT []
synonym: "Ekbom Psychogenic Parasitosis" EXACT []
synonym: "Psychogenic Parasitoses" EXACT []
synonym: "Psychogenic Parasitosis" EXACT []
xref: MESH:D063726
is_a: DOID:9000439 ! Schizophrenia Spectrum and Other Psychotic Disorders

[Term]
id: DOID:9000901
name: Inert Gas Narcosis
def: "Progressive mental disturbances and unconsciousness due to breathing mixtures of oxygen and inert gases (argon, helium, xenon, krypton, and atmospheric nitrogen) at high pressure." [MESH:D007222]
synonym: "Depth Intoxication" EXACT []
synonym: "Depth Intoxications" EXACT []
synonym: "Inert Gas Narcoses" EXACT []
synonym: "Nitrogen Narcoses" EXACT []
synonym: "Nitrogen Narcosis" EXACT []
xref: MESH:D007222
is_a: DOID:9004169 ! Gas Poisoning
is_a: DOID:9005463 ! Occupational Diseases

[Term]
id: DOID:9000902
name: Surgical Blood Loss
def: "Loss of blood during a surgical procedure." [MESH:D016063]
synonym: "surgical blood losses" EXACT []
synonym: "Surgical Hemorrhage" EXACT []
synonym: "surgical hemorrhages" EXACT []
xref: MESH:D016063
is_a: DOID:9007171 ! Intraoperative Complications
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9000903
name: Methemoglobin Reductase Deficiency
alt_id: MIM:250700
synonym: "NADPH-dependent methemoglobin reductase deficiency" EXACT []
synonym: "TPNH-methemoglobin reductase deficiency" EXACT []
xref: MESH:C563171
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9000904
name: Yemenite Deaf-Blind Hypopigmentation Syndrome
alt_id: MIM:601706
synonym: "Warburg Thomsen syndrome" EXACT []
synonym: "Yemenite (Warburg) deaf-blind hypopigmentation syndrome" EXACT []
xref: MESH:C536771
xref: RDO:0002453
is_a: DOID:1432 ! blindness
is_a: DOID:225 ! syndrome
is_a: DOID:9005660 ! Hypopigmentation
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9000905
name: Tenorio Syndrome
def: "A syndrome characterized by overgrowth, macrocephaly, and intellectual disability. (OMIM)" []
synonym: "OVERGROWTH, MACROCEPHALY, AND INTELLECTUAL DISABILITY SYNDROME" EXACT []
synonym: "RNF125-RELATED CONDITION" EXACT []
synonym: "TNORS" EXACT []
xref: MIM:616260
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9006084 ! Gigantism
created_by: rgd
creation_date: 2017-04-19T00:00:00Z

[Term]
id: DOID:9000906
name: Oropharyngeal Neoplasms
alt_id: RDO:0006247
def: "Tumors or cancer of the OROPHARYNX." [MESH:D009959]
synonym: "Oropharyngeal Neoplasm" EXACT []
synonym: "oropharynx neoplasm" EXACT []
synonym: "oropharynx neoplasms" EXACT []
xref: MESH:D009959
is_a: DOID:9002346 ! Pharyngeal Neoplasms

[Term]
id: DOID:9000908
name: Gastric Fistula
def: "Abnormal passage communicating with the STOMACH." [MESH:D005747]
synonym: "Stomach Fistula" EXACT []
xref: MESH:D005747
is_a: DOID:9008038 ! Digestive System Fistula

[Term]
id: DOID:9000910
name: Elliptocytosis, Atypical
xref: MESH:C565598
is_a: DOID:2373 ! hereditary elliptocytosis

[Term]
id: DOID:9000911
name: Autosomal Dominant Intellectual Developmental Disorder 60
synonym: "Autosomal Dominant Mental Retardation 60" EXACT []
synonym: "autosomal dominant mental retardation 60 with seizures" EXACT []
synonym: "intellectual developmental disorder 60 with seizures" EXACT []
synonym: "MRD60" EXACT []
xref: EFO:0010566
xref: MIM:618587
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
is_a: DOID:1826 ! epilepsy
created_by: mtutaj
creation_date: 2019-09-18T09:02:08Z

[Term]
id: DOID:9000912
name: Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate
def: "An autosomal recessive disorder characterized by acute reversible neurologic deterioration in the context of a febrile illness. The disorder is associated with transient leukoencephalopathy on brain imaging concurrent with the acute episode, as well as persistently increased excretion of dicarboxylic acids, particularly alpha-ketoglutarate." [MIM:618384]
synonym: "ARLIAK" EXACT []
xref: EFO:0010262
xref: MIM:618384
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9002704 ! Leukoencephalopathies
created_by: slaulede
creation_date: 2019-09-13T13:31:43Z

[Term]
id: DOID:9000913
name: Chromosome 18 Ring
xref: MESH:C538304
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9000914
name: Pachyonychia Congenita 3
synonym: "PC3" EXACT []
xref: MIM:615726
is_a: DOID:0050449 ! pachyonychia congenita
created_by: mtutaj
creation_date: 2019-03-26T00:00:00Z

[Term]
id: DOID:9000915
name: Angiofibroma
def: "A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)" [MESH:D018322]
synonym: "Angiofibromas" EXACT []
synonym: "ANGIOFIBROMA, SOMATIC" NARROW []
xref: EFO:1001761
xref: MESH:D018322
is_a: DOID:9006948 ! Vascular Tissue Neoplasms

[Term]
id: DOID:9000916
name: Peroxisome Biogenesis Disorder, Complementation Group D
xref: MESH:C566388
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9000917
name: Amoebic Dysentery due to Entamoeba Histolytica
xref: MESH:C539067
xref: RDO:0004603
is_a: DOID:9006038 ! Amebic Dysentery

[Term]
id: DOID:9000918
name: Disease Progression
def: "The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis." [MESH:D018450]
synonym: "Disease Exacerbation" EXACT []
synonym: "Disease Progressions" EXACT []
xref: MESH:D018450
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9000919
name: Tranebjaerg Svejgaard syndrome
alt_id: RDO:0002715
synonym: "mental retardation X-linked, Tranebjaerg type seizures and psoriasis" EXACT []
synonym: "X-linked mental retardation associated with psoriasis" EXACT []
xref: MESH:C536978
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:8893 ! psoriasis
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9000920
name: Anterior Cruciate Ligament Injuries
def: "Sprain or tear injuries to the ANTERIOR CRUCIATE LIGAMENT of the knee." [MESH:D000070598]
synonym: "ACL Injuries" EXACT []
synonym: "ACL Injury" EXACT []
synonym: "ACL Tear" EXACT []
synonym: "ACL Tears" EXACT []
synonym: "Anterior Cruciate Ligament Injury" EXACT []
synonym: "Anterior Cruciate Ligament Tear" EXACT []
synonym: "Anterior Cruciate Ligament Tears" EXACT []
xref: MESH:D000070598
xref: RDO:0016061
is_a: DOID:9008290 ! Knee Injuries

[Term]
id: DOID:9000921
name: Crush Syndrome
def: "Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia." [MESH:D003444]
synonym: "Crush Syndromes" EXACT []
xref: EFO:1001299
xref: MESH:D003444
xref: RDO:0005298
is_a: DOID:225 ! syndrome
is_a: DOID:9000728 ! Traumatic Shock
is_a: DOID:9001281 ! Crush Injuries

[Term]
id: DOID:9000922
name: Chromosome 5, Trisomy 5pter p13 3
synonym: "Duplication 5pter p13.3" EXACT []
synonym: "Trisomy 5pter p13 3" EXACT []
xref: MESH:C537649
xref: RDO:0003526
is_a: DOID:12580 ! Cri-du-Chat syndrome
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9000923
name: Joubert Syndrome 12
synonym: "JBTS12" EXACT []
xref: RDO:9000721
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:9250 ! acrocallosal syndrome

[Term]
id: DOID:9000924
name: Gastrointestinal Motility Disorders
def: "Disorders affecting the motor function of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." []
synonym: "ESOPHAGEAL AND COLONIC DYSMOTILITY" NARROW []
is_a: DOID:77 ! gastrointestinal system disease
created_by: rgd
creation_date: 2017-09-14T00:00:00Z

[Term]
id: DOID:9000925
name: McPherson Robertson Cammarano Syndrome
synonym: "Dominantly inherited ptosis, strabismus and ectopic pupils" EXACT []
xref: MESH:C538161
xref: RDO:0004101
is_a: DOID:0060260 ! ptosis
is_a: DOID:225 ! syndrome
is_a: DOID:238 ! pupil disease
is_a: DOID:540 ! strabismus

[Term]
id: DOID:9000926
name: Visceroatrial Heterotaxy, Autosomal Recessive
xref: MESH:C566864
is_a: DOID:0050545 ! visceral heterotaxy

[Term]
id: DOID:9000927
name: Alveolar Bone Loss
def: "Resorption or wasting of the tooth-supporting bone (ALVEOLAR PROCESS) in the MAXILLA or MANDIBLE." [MESH:D016301]
synonym: "Alveolar Bone Atrophies" EXACT []
synonym: "Alveolar Bone Atrophy" EXACT []
synonym: "Alveolar Bone Losses" EXACT []
synonym: "Alveolar Process Atrophies" EXACT []
synonym: "Alveolar Process Atrophy" EXACT []
synonym: "Alveolar Resorption" EXACT []
synonym: "Alveolar Resorptions" EXACT []
synonym: "Periodontal Bone Loss" EXACT []
synonym: "Periodontal Bone Losses" EXACT []
synonym: "Periodontal Resorption" EXACT []
synonym: "Periodontal Resorptions" EXACT []
xref: MESH:D016301
xref: RDO:0006950
is_a: DOID:0080011 ! bone resorption disease
is_a: DOID:9005858 ! Periodontal Atrophy

[Term]
id: DOID:9000928
name: Central Nervous System Helminthiasis
alt_id: RDO:0007306
def: "Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms)." [MESH:D020809]
synonym: "Cerebral Helminthiasis" EXACT []
xref: EFO:1001773
xref: MESH:D020809
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:9004805 ! Central Nervous System Parasitic Infections

[Term]
id: DOID:9000929
name: Hallux Rigidus
def: "A condition caused by degenerative arthritis (see OSTEOARTHRITIS) of the METATARSOPHALANGEAL JOINT of the great toe and characterized by pain and limited dorsiflexion, but relatively unrestricted plantar flexion." [MESH:D020859]
xref: MESH:D020859
is_a: DOID:381 ! arthropathy
is_a: DOID:9000083 ! Foot Deformities, Acquired

[Term]
id: DOID:9000930
name: Dental Pulp Exposure
def: "The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." [MESH:D003789]
xref: EFO:1001782
xref: MESH:D003789
is_a: DOID:5330 ! dental pulp disease

[Term]
id: DOID:9000931
name: Ophthalmoplegic Migraine
alt_id: RDO:0010040
def: "Childhood-onset of recurrent headaches with an oculomotor cranial nerve palsy. Typically, ABDUCENS NERVE; OCULOMOTOR NERVE; and TROCHLEAR NERVE are involved with DIPLOPIA and BLEPHAROPTOSIS." [MESH:D060486]
synonym: "Ophthalmoplegic Migraines" EXACT []
synonym: "Ophthalmoplegic Migraine Syndrome" EXACT []
synonym: "Ophthalmoplegic Migraine Syndromes" EXACT []
xref: MESH:D060486
is_a: DOID:3213 ! demyelinating disease
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:5656 ! cranial nerve disease
is_a: DOID:6364 ! migraine

[Term]
id: DOID:9000932
name: African Horse Sickness
def: "An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck." [MESH:D000355]
synonym: "African Horsesickness" EXACT []
synonym: "African Horse Sicknesses" EXACT []
synonym: "African Horsesicknesses" EXACT []
synonym: "Equine Plague" EXACT []
synonym: "Equine Plagues" EXACT []
xref: MESH:D000355
xref: RDO:0004769
is_a: DOID:9001187 ! Horse Diseases
is_a: DOID:9006487 ! Reoviridae Infections
is_a: DOID:9007579 ! Arbovirus Infections

[Term]
id: DOID:9000933
name: Leukemoid Reaction
def: "A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" [MESH:D007955]
synonym: "Leukemoid Reactions" EXACT []
xref: EFO:1001014
xref: MESH:D007955
is_a: DOID:0070004 ! myeloid neoplasm
is_a: DOID:9001039 ! Leukocytosis

[Term]
id: DOID:9000934
name: Sprains and Strains
def: "A collective term for muscle and ligament injuries without dislocation or fracture. A sprain is a joint injury in which some of the fibers of a supporting ligament are ruptured but the continuity of the ligament remains intact. A strain is an overstretching or overexertion of some part of the musculature." [MESH:D013180]
synonym: "Sprain" EXACT []
synonym: "sprains" EXACT []
synonym: "Strain" EXACT []
synonym: "strains" EXACT []
xref: EFO:0005135
xref: EFO:0009582
xref: MESH:D013180
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9000936
name: Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d
alt_id: RDO:0014663
synonym: "DYSBETALIPOPROTEINEMIA DUE TO APOE2" NARROW []
xref: MESH:C566261
is_a: DOID:9003370 ! Dyslipidemias

[Term]
id: DOID:9000937
name: breast hyperplasia
def: "This refers to hyperplastic proliferations of the epithelial cells in the breast parenchyma." [EFO:0008492]
synonym: "mammary hyperplasia" EXACT []
xref: EFO:0008492
is_a: DOID:0060082 ! breast benign neoplasm
created_by: slaulede
creation_date: 2022-10-27T10:55:33Z

[Term]
id: DOID:9000938
name: Sudden Infant Death with Dysgenesis of the Testes Syndrome
alt_id: MIM:608800
synonym: "SIDDT" EXACT []
xref: MESH:C563856
is_a: DOID:9007 ! sudden infant death syndrome

[Term]
id: DOID:9000939
name: Split Hand, Split Foot, Nystagmus
alt_id: MIM:183800
synonym: "Karsch-Neugebauer syndrome" EXACT []
synonym: "Nystagmus-Split Hand Syndrome" EXACT []
synonym: "Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts" EXACT []
xref: MESH:C537319
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9650 ! pathologic nystagmus

[Term]
id: DOID:9000940
name: Thrombocytosis, Benign Familial Microcytic
xref: MESH:C566596
xref: RDO:0014909
is_a: DOID:2228 ! thrombocytosis

[Term]
id: DOID:9000941
name: Elliptocytosis 2
alt_id: MIM:130600
synonym: "EL2" EXACT []
synonym: "Elliptocytosis, Rhesus-Unlinked Type" EXACT []
xref: MESH:C565058
is_a: DOID:2373 ! hereditary elliptocytosis

[Term]
id: DOID:9000942
name: Actinic Prurigo
alt_id: MIM:174770
synonym: "Polymorphic Light Eruption, Hereditary" EXACT []
xref: MESH:C566780
is_a: DOID:3159 ! photosensitivity disease
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9000943
name: Lethal Congenital Contracture Syndrome 11
alt_id: RDO:9001625
synonym: "GLDN-RELATED CONDITION" EXACT []
synonym: "LCCS11" EXACT []
synonym: "lethal congenital contracture arthrogryposis-11" EXACT []
xref: MIM:617194
is_a: DOID:0060558 ! lethal congenital contracture syndrome

[Term]
id: DOID:9000944
name: Primary Congenital Glaucoma 3, C
synonym: "GLC3C" EXACT []
xref: MIM:613085
is_a: DOID:0050593 ! primary congenital glaucoma

[Term]
id: DOID:9000945
name: Ventilator-Induced Lung Injury
def: "Lung damage that is caused by the adverse effects of PULMONARY VENTILATOR usage. The high frequency and tidal volumes produced by a mechanical ventilator can cause alveolar disruption and PULMONARY EDEMA." [MESH:D055397]
synonym: "Ventilator-Induced Lung Injuries" EXACT []
xref: MESH:D055397
xref: RDO:0005074
is_a: DOID:9000310 ! Lung Injury

[Term]
id: DOID:9000946
name: Schilbach-Rott Syndrome
alt_id: MIM:164220
synonym: "blepharofacioskeletal syndrome" EXACT []
synonym: "cleft palate, hypotelorism, and hypospadias" EXACT []
synonym: "ocular hypotelorism, submucosal cleft palate, and hypospadias" EXACT []
synonym: "SBRS" EXACT []
xref: MESH:C563509
is_a: DOID:10892 ! hypospadias
is_a: DOID:674 ! cleft palate
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9000947
name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM
alt_id: MIM:300123
synonym: "INTELLECTUAL DISABILITY, X-LINKED, WITH PANHYPOPITUITARISM" EXACT []
synonym: "MRGH" NARROW []
synonym: "X-linked intellectual developmental disorder with isolated growth hormone deficiency" EXACT []
synonym: "X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY" EXACT []
synonym: "X-linked mental retardation with isolated growth hormone deficiency" EXACT []
synonym: "X-Linked Mental Retardation with Panhypopituitarism" EXACT []
xref: MESH:C567485
is_a: DOID:0111779 ! X-linked panhypopituitarism
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9000948
name: central nervous system toxicity
def: "This disease state involves injury to the central nervous system or damage to its function. The damage can include stroke, multiple sclerosis, encephalopathy, dementia, Alzheimer's disease, dyskinesia, tremor, convulsions and Parkinson's disease." [EFO:0011047]
synonym: "CNS toxicity" EXACT []
xref: EFO:0011047
is_a: DOID:9007553 ! neurotoxicity
created_by: slaulede
creation_date: 2022-12-12T15:52:52Z

[Term]
id: DOID:9000949
name: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES
def: "A disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity." [MIM:617991]
synonym: "DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM" EXACT []
synonym: "DIDOD" EXACT []
synonym: "PHIP-RELATED CONDITION" EXACT []
synonym: "PHIP-RELATED DISORDER" EXACT []
xref: MIM:617991
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9970 ! obesity
created_by: slaulede
creation_date: 2018-06-18T16:29:29Z

[Term]
id: DOID:9000950
name: Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome
def: "An autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures." [MIM:618343]
synonym: "COL3A1-RELATED CONDITION" BROAD []
synonym: "PMGEDSV" EXACT []
synonym: "Polymicrogyria with or without vascular-type EDS" EXACT []
synonym: "POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME" NARROW []
xref: MIM:618343
is_a: DOID:0080918 ! polymicrogyria
is_a: DOID:14756 ! vascular type Ehlers-Danlos syndrome
created_by: mtutaj
creation_date: 2019-03-06T08:08:14Z

[Term]
id: DOID:9000951
name: Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis
synonym: "RAMSVPS" EXACT []
synonym: "retinal arterial macroaneurysm with supravascular pulmonic stenosis" RELATED []
xref: MIM:614224
is_a: DOID:6420 ! pulmonary valve stenosis
is_a: DOID:9002280 ! Retinal Arterial Macroaneurysm

[Term]
id: DOID:9000953
name: Glycine Encephalopathy 2
def: "A glycine encephalopathy caused by homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21." [MIM:620398]
synonym: "GCE2" EXACT []
xref: MIM:620398
is_a: DOID:9268 ! glycine encephalopathy
created_by: mtutaj
creation_date: 2023-06-14T14:37:11Z

[Term]
id: DOID:9000954
name: Parakeratosis
alt_id: OMIA:001373
def: "Persistence of the nuclei of the keratinocytes into the stratum corneum of the skin. This is a normal state only in the epithelium of true mucous membranes in the mouth and vagina. (Dorland, 27th ed)" [MESH:D010241]
synonym: "Nasal parakeratosis" NARROW []
synonym: "Parakeratoses" EXACT []
xref: MESH:D010241
is_a: DOID:161 ! keratosis

[Term]
id: DOID:9000955
name: Acute Otitis Media
def: "Acute inflammation of the MIDDLE EAR including the AUDITORY OSSICLES and the EUSTACHIAN TUBE." []
xref: RDO:9000526
is_a: DOID:10754 ! otitis media

[Term]
id: DOID:9000956
name: Hyperlipoproteinemia Type II, and Deafness
alt_id: MIM:144300
xref: MESH:C564170
is_a: DOID:9005519 ! Hyperlipoproteinemia Type II
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9000957
name: lymphatic malformation 6
def: "A form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. (OMIM)" []
synonym: "DIFFUSE LYMPHATIC MALFORMATION" EXACT []
synonym: "GENERALIZED LYMPHATIC DYSPLASIA OF FOTIOU" EXACT []
synonym: "Hereditary Lymphedema III" EXACT []
synonym: "LMPH3" EXACT []
synonym: "LMPHM6" EXACT []
synonym: "PIEZO1-RELATED CONDITION" BROAD []
xref: EFO:0009153
xref: MIM:616843
is_a: DOID:0050580 ! hereditary lymphedema

[Term]
id: DOID:9000958
name: Popliteal Cyst
alt_id: MIM:175750
def: "A SYNOVIAL CYST located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint." [MESH:D011151]
synonym: "Baker's Cyst" EXACT []
synonym: "Baker Cyst" EXACT []
synonym: "Baker cysts" EXACT []
synonym: "popliteal cysts" EXACT []
xref: MESH:D011151
is_a: DOID:9001669 ! Synovial Cyst

[Term]
id: DOID:9000960
name: Tubal Pregnancy
def: "The most common (>96%) type of ectopic pregnancy in which the extrauterine EMBRYO IMPLANTATION occurs in the FALLOPIAN TUBE, usually in the ampullary region where FERTILIZATION takes place." [MESH:D011274]
synonym: "Tubal Pregnancies" EXACT []
xref: MESH:D011274
is_a: DOID:0060329 ! ectopic pregnancy

[Term]
id: DOID:9000961
name: Pseudoachondroplastic Dysplasia 2
synonym: "Recessive pseudoachondroplasia" EXACT []
synonym: "Spondyloepiphyseal dysplasia pseudoachondroplastic 2" EXACT []
xref: MESH:C535820
xref: RDO:0001138
is_a: DOID:4480 ! achondroplasia

[Term]
id: DOID:9000962
name: Snoring
def: "Rough, noisy breathing during sleep, due to vibration of the uvula and soft palate." [MESH:D012913]
synonym: "Snorings" EXACT []
xref: MESH:D012913
is_a: DOID:9003157 ! Respiratory Sounds

[Term]
id: DOID:9000963
name: Hereditary Epistaxis
alt_id: MIM:132500
xref: MESH:C562751
is_a: DOID:630 ! genetic disease
is_a: DOID:9008421 ! Epistaxis

[Term]
id: DOID:9000964
name: Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin
alt_id: MIM:601039
xref: MESH:C563402
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1697 ! ichthyosis
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9000965
name: Neoplasm Metastasis
def: "The transfer of a neoplasm from one organ or part of the body to another remote from the primary site." [MESH:D009362]
synonym: "Metastases" EXACT []
synonym: "Metastasis" EXACT []
synonym: "Neoplasm Metastases" EXACT []
xref: EFO:0009708
xref: EFO:0009709
xref: EFO:0010941
xref: MESH:D009362
is_a: DOID:9008192 ! Neoplastic Processes

[Term]
id: DOID:9000966
name: Night Terrors
def: "A disorder characterized by incomplete arousals from sleep associated with behavior suggesting extreme fright. This condition primarily affects children and young adults and the individual generally has no recall of the event. Episodes tend to occur during stage III or IV. SOMNAMBULISM is frequently associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p391)" [MESH:D020184]
synonym: "Adult Night Terror" EXACT []
synonym: "Adult Night Terrors" EXACT []
synonym: "Adult Pavor Nocturnus" EXACT []
synonym: "Childhood Night Terror" EXACT []
synonym: "Childhood Night Terrors" EXACT []
synonym: "Childhood Pavor Nocturnus" EXACT []
synonym: "Pavor Nocturnus" EXACT []
synonym: "Primary Night Terror" EXACT []
synonym: "Primary Night Terrors" EXACT []
synonym: "Secondary Night Terror" EXACT []
synonym: "Secondary Night Terrors" EXACT []
synonym: "Sleep Terror" EXACT []
synonym: "Sleep Terror Disorder" EXACT []
synonym: "Sleep Terrors" EXACT []
xref: MESH:D020184
xref: RDO:0007330
is_a: DOID:9007411 ! Sleep Arousal Disorders

[Term]
id: DOID:9000967
name: Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development
alt_id: MIM:609579
synonym: "Scaphocephaly, Maxillary Retrusion, and Mental Retardation" EXACT []
xref: MESH:C566511
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9001031 ! Retrognathia

[Term]
id: DOID:9000968
name: Familial Thymoma
alt_id: MIM:274230
synonym: "Thymic Neoplasia" EXACT []
xref: MESH:C564767
is_a: DOID:3275 ! thymoma

[Term]
id: DOID:9000970
name: Focal Nodular Hyperplasia
def: "Solitary or multiple benign hepatic vascular tumors, usually occurring in women of 20-50 years of age. The nodule, poorly encapsulated, consists of a central stellate fibrous scar and normal liver elements such as HEPATOCYTES, small BILE DUCTS, and KUPFFER CELLS among the intervening fibrous septa. The pale colored central scar represents large blood vessels with hyperplastic fibromuscular layer and narrowing lumen." [MESH:D020518]
synonym: "Focal Nodular Hyperplasias" EXACT []
xref: MESH:D020518
xref: RDO:0007416
is_a: DOID:409 ! liver disease

[Term]
id: DOID:9000971
name: Ichthyosis Hystrix
is_a: DOID:1697 ! ichthyosis
created_by: mtutaj
creation_date: 2023-07-28T09:57:49Z

[Term]
id: DOID:9000972
name: Fever
def: "An abnormal elevation of body temperature, usually as a result of a pathologic process." [MESH:D005334]
synonym: "EPISODIC FEVER" NARROW []
synonym: "Fevers" EXACT []
synonym: "Hyperthermia" EXACT []
synonym: "Hyperthermias" EXACT []
synonym: "Pyrexia" EXACT []
synonym: "Pyrexias" EXACT []
xref: MESH:D005334
is_a: DOID:9008809 ! Body Temperature Changes

[Term]
id: DOID:9000973
name: Maternally Inherited Leigh Syndrome
synonym: "Leigh disease, maternally inherited" EXACT []
synonym: "Subacute necrotizing encephalomyelopathy maternally inherited" EXACT []
xref: MESH:C536035
xref: RDO:0001449
is_a: DOID:225 ! syndrome
is_a: DOID:3652 ! Leigh disease

[Term]
id: DOID:9000974
name: Acute Generalized Exanthematous Pustulosis
def: "Rare skin eruption characterized by acute formation of pustules filled with NEUTROPHILS, fever, and peripheral blood LEUKOCYTOSIS. Most cases are associated with the use of antibiotics (e.g., BETA-LACTAMS)." [MESH:D056150]
synonym: "Acute Localized Exanthematous Pustulosis" EXACT []
xref: MESH:D056150
xref: RDO:0007737
is_a: DOID:9005236 ! Drug Eruptions

[Term]
id: DOID:9000975
name: Spondyloepimetaphyseal Dysplasia, Krakow Type
synonym: "IMMUNOOSSEOUS DYSPLASIA, KRAKOW TYPE" EXACT []
synonym: "SEMDK" EXACT []
xref: MIM:618162
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
created_by: mtutaj
creation_date: 2019-02-08T15:23:43Z

[Term]
id: DOID:9000976
name: Trichoscyphodysplasia
alt_id: RDO:0002175
synonym: "Cupped metaphyses and cone-shaped epiphyses with alopecia" EXACT []
synonym: "metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia" EXACT []
synonym: "metaphyseal chondrodysplasia with ectodermal dysplasia" EXACT []
xref: MESH:C536557
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9000977
name: Halitosis
def: "An offensive, foul breath odor resulting from a variety of causes such as poor oral hygiene, dental or oral infections, or the ingestion of certain foods." [MESH:D006209]
synonym: "Halitoses" EXACT []
xref: MESH:D006209
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:9000979
name: 49,XXXXX Syndrome
synonym: "Chromosome X pentasomy" EXACT []
synonym: "Chromosome XXXXX syndrome" EXACT []
synonym: "Pentasomy X" EXACT []
synonym: "Pentasomy X syndrome" EXACT []
synonym: "Penta-X syndrome" EXACT []
xref: MESH:C535319
xref: NCI:C89802
is_a: DOID:225 ! syndrome
is_a: DOID:9003307 ! Sex Chromosome Aberrations
is_a: DOID:9004151 ! Sex Chromosome Disorders
is_a: DOID:9008692 ! Aneuploidy

[Term]
id: DOID:9000980
name: Martsolf Syndrome 2
def: "An autosomal recessive disorder with the main features of congenital cataracts, mildly to severely impaired intellectual development, and facial dysmorphism. Caused by homozygous mutation in the gene encoding the catalytic subunit of RAB3 GTPase-activating protein (RAB3GAP1) on chromosome 2q21. (OMIM)" []
synonym: "MARTS2" EXACT []
synonym: "RAB3GAP1-RELATED CONDITION" BROAD []
synonym: "RAB3GAP1-RELATED DISORDER" BROAD []
xref: MIM:619420
is_a: DOID:9001487 ! Facies
is_a: DOID:9006949 ! Martsolf Syndrome
created_by: mtutaj
creation_date: 2021-07-08T15:08:14Z

[Term]
id: DOID:9000981
name: Autosomal Dominant Dyskeratosis Congenita
xref: MESH:C565079
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2729 ! dyskeratosis congenita

[Term]
id: DOID:9000982
name: Pyruvate Dehydrogenase E1 Alpha Deficiency
synonym: "Lactic Acidemia, Thiamine Responsive" EXACT []
synonym: "pyruvate decarboxylase" EXACT []
xref: MESH:C564071
is_a: DOID:3649 ! pyruvate decarboxylase deficiency
is_a: DOID:3650 ! lactic acidosis

[Term]
id: DOID:9000983
name: Encephalocele
def: "Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur." [MESH:D004677]
synonym: "Acquired Encephalocele" EXACT []
synonym: "Acquired Encephaloceles" EXACT []
synonym: "Bifid Cranium" EXACT []
synonym: "Bifid Craniums" EXACT []
synonym: "Cephalocele" EXACT []
synonym: "Cephaloceles" EXACT []
synonym: "Cerebellar Hernia" EXACT []
synonym: "Cerebellar Hernias" EXACT []
synonym: "Cerebellar Herniation" EXACT []
synonym: "Cerebellar Herniations" EXACT []
synonym: "Cerebral Hernia" EXACT []
synonym: "Cerebral Hernias" EXACT []
synonym: "Cranial Meningoencephalocele" EXACT []
synonym: "Cranial Meningoencephaloceles" EXACT []
synonym: "Craniocele" EXACT []
synonym: "Cranioceles" EXACT []
synonym: "Cranium Bifidum" EXACT []
synonym: "Cranium Bifidums" EXACT []
synonym: "Encephaloceles" EXACT []
synonym: "Frontal Encephalocele" EXACT []
synonym: "Frontal Encephaloceles" EXACT []
synonym: "Notoencephalocele" EXACT []
synonym: "Notoencephaloceles" EXACT []
synonym: "Occipital Encephalocele" EXACT []
synonym: "Occipital Encephaloceles" EXACT []
synonym: "Sincipital Encephalocele" EXACT []
synonym: "Sincipital Encephaloceles" EXACT []
synonym: "Tonsillar Hernia" EXACT []
synonym: "Tonsillar Hernias" EXACT []
synonym: "Tonsillar Herniation" EXACT []
synonym: "Tonsillar Herniations" EXACT []
xref: MESH:D004677
is_a: DOID:0080074 ! neural tube defect
is_a: DOID:1283 ! enterocele

[Term]
id: DOID:9000984
name: Ventricular Flutter
def: "A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance. If untreated, ventricular flutter typically progresses to VENTRICULAR FIBRILLATION." [MESH:D054141]
synonym: "Ventricular Flutters" EXACT []
xref: MESH:D054141
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:9000986
name: Selective Tooth Agenesis, X-Linked, 1
alt_id: MIM:313500
alt_id: RDO:0015238
synonym: "Hypodontia-Oligodontia, X-Linked, 1" EXACT []
synonym: "STHAGX1" EXACT []
xref: MESH:C567060
is_a: DOID:0050591 ! tooth agenesis
is_a: DOID:0050735 ! X-linked monogenic disease

[Term]
id: DOID:9000987
name: Cerebroretinal Microangiopathy with Calcifications and Cysts 3
def: "An autosomal recessive disorder characterized by intrauterine growth retardation, retinal exudates, intracranial calcifications, and leukoencephalopathy. Caused by homozygous mutation in the POT1 gene on chromosome 7q31." [MIM:620368]
synonym: "CRMCC3" EXACT []
xref: MIM:620368
is_a: DOID:9003025 ! Cerebroretinal Microangiopathy with Calcifications and Cysts
created_by: mtutaj
creation_date: 2023-05-12T09:17:05Z

[Term]
id: DOID:9000988
name: Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2
def: "An autosomal recessive multisystemic disorder characterized by cholestatic hepatitis, poor feeding associated with poor overall growth, and hypoglycemia apparent from infancy. Caused by homozygous or compound heterozygous mutation in the YARS1 gene on chromosome 1p35. (OMIM)" []
synonym: "IMNEPD2" EXACT []
xref: MIM:619418
is_a: DOID:9006461 ! Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease
created_by: mtutaj
creation_date: 2021-07-09T10:59:29Z

[Term]
id: DOID:9000989
name: Pneumococcal Infections
def: "Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE." [MESH:D011008]
synonym: "Pneumococcal Infection" EXACT []
synonym: "Streptococcus pneumoniae Infection" EXACT []
synonym: "Streptococcus pneumoniae Infections" EXACT []
xref: EFO:0000772
xref: MESH:D011008
is_a: DOID:9006844 ! Streptococcal Infections

[Term]
id: DOID:9000990
name: Experimental Nervous System Autoimmune Disease
def: "Experimental animal models for human AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM. They include GUILLAIN-BARRE SYNDROME (see NEURITIS, AUTOIMMUNE, EXPERIMENTAL); MYASTHENIA GRAVIS (see MYASTHENIA GRAVIS, AUTOIMMUNE, EXPERIMENTAL); and MULTIPLE SCLEROSIS (see ENCEPHALOMYELITIS, AUTOIMMUNE, EXPERIMENTAL)." [MESH:D020721]
synonym: "Autoimmune Experimental Myositis" EXACT []
synonym: "Nervous System Autoimmune Disease Models" EXACT []
xref: MESH:D020721
is_a: DOID:438 ! autoimmune disease of the nervous system
is_a: DOID:9006205 ! Animal Disease Models

[Term]
id: DOID:9000991
name: SULEIMAN-EL-HATTAB SYNDROME
def: "This is an autosomal recessive multisystem developmental disorder characterized by hypotonia and feeding difficulties soon after birth, global developmental delay with impaired intellectual development and poor expressive speech, and a general happy demeanor. There is a distinctive facial appearance with microcephaly, thick arched eyebrows with synophrys, hypertelorism, epicanthal folds, low-set ears, broad nasal bridge, and thin upper lip." [MIM:618950]
synonym: "SULEHS" EXACT []
xref: MIM:618950
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2020-11-13T10:48:28Z

[Term]
id: DOID:9000992
name: necrotizing soft tissue infection
def: "A bacterial infection of any layer within the soft tissue compartments associated with necrosis. The condition is often accompanied by septic shock, and the extensive inflammatory response is thought to be a primary cause of mortality." [PMID:26880104]
synonym: "NSTI" EXACT []
xref: PMID:26880104
is_a: DOID:9004165 ! Soft Tissue Infections
created_by: slaulede
creation_date: 2020-08-18T17:29:45Z

[Term]
id: DOID:9000994
name: Choroid Neoplasms
def: "Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)." []
synonym: "choroidal neoplasm" EXACT []
synonym: "choroidal neoplasms" EXACT []
synonym: "choroidal tumor" EXACT []
synonym: "choroid neoplasm" EXACT []
synonym: "neoplasm of choroid" EXACT []
xref: MESH:D002830
is_a: DOID:1417 ! choroid disease
is_a: DOID:9007031 ! Uveal Neoplasms

[Term]
id: DOID:9000995
name: Undritz Anomaly
alt_id: MIM:191500
synonym: "Hypersegmentation of Nuclei of Polymorphonuclear Leukocytes" EXACT []
xref: MESH:C566014
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9000996
name: Chest Trauma
def: "An injury of the chest due to physical damage caused by an extrinsic agent." []
synonym: "Blunt injury to chest" RELATED []
synonym: "Blunt injury to thorax" RELATED []
synonym: "Traumatic injury to chest" EXACT []
is_a: DOID:9001954 ! Thoracic Injuries

[Term]
id: DOID:9000997
name: Tsukahara Syndrome
alt_id: MIM:603438
synonym: "Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation" EXACT []
xref: MESH:C566376
is_a: DOID:0060249 ! scoliosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:11971 ! synostosis
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9000998
name: Brain Injuries
def: "Acute and chronic (see also BRAIN INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and BRAIN STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits." [MESH:D001930]
synonym: "Acute Brain Injuries" EXACT []
synonym: "Acute Brain Injury" EXACT []
synonym: "Brain Injury" EXACT []
synonym: "Brain Laceration" EXACT []
synonym: "Brain Lacerations" EXACT []
synonym: "Focal Brain Injuries" EXACT []
synonym: "Focal Brain Injury" EXACT []
xref: MESH:D001930
is_a: DOID:9007621 ! Craniocerebral Trauma
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9000999
name: Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2
def: "A severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy." [MIM:616801]
synonym: "HYPOTONIA-SPEECH IMPAIRMENT-SEVERE COGNITIVE DELAY SYNDROME" EXACT []
synonym: "IHPRF2" EXACT []
synonym: "UNC80-RELATED CONDITION" EXACT []
synonym: "UNC80-RELATED DISORDER" EXACT []
xref: MIM:616801
is_a: DOID:9006603 ! Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies

[Term]
id: DOID:9001000
name: Panniculitis, Lupus Erythematosus
def: "A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45." [MESH:D015435]
synonym: "Lupus Erythematosus Panniculitides" EXACT []
synonym: "Lupus Erythematosus Profundus" EXACT []
synonym: "Lupus Panniculitides" EXACT []
synonym: "Lupus Panniculitis" EXACT []
synonym: "Lupus Profundus" EXACT []
xref: MESH:D015435
xref: RDO:0006869
is_a: DOID:1526 ! panniculitis
is_a: DOID:9006779 ! Discoid Lupus Erythematosus

[Term]
id: DOID:9001001
name: Davis Lafer Syndrome
synonym: "Mental retardation unusual facies Davis Lafer type" EXACT []
xref: MESH:C535989
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9001002
name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES
alt_id: MIM:618659
def: "A global neurodevelopmental disorder with highly variable features. Common features include dysmorphic facial features with notable eye anomalies, joint hypermobility, and mild skeletal anomalies of the hands and feet." [MIM:618659]
synonym: "NEDDFSA" EXACT []
synonym: "ZMIZ1-RELATED CONDITION" EXACT []
xref: EFO:0010659
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006294 ! Congenital Limb Deformities
created_by: slaulede
creation_date: 2020-01-14T16:17:48Z

[Term]
id: DOID:9001003
name: Distal Renal Tubular Acidosis, with Normal Red Cell Morphology
xref: MESH:C566911
is_a: DOID:9007406 ! Distal Renal Tubular Acidosis

[Term]
id: DOID:9001004
name: Chronic Periodontitis
alt_id: MIM:260950
def: "Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people." [MESH:D055113]
synonym: "adult periodontitides" EXACT []
synonym: "adult periodontitis" EXACT []
synonym: "chronic periodontitides" EXACT []
xref: EFO:0006343
xref: MESH:D055113
is_a: DOID:824 ! periodontitis

[Term]
id: DOID:9001005
name: Complex Cortical Dysplasia with Other Brain Malformations 9
def: "A severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum." [MIM:618174]
synonym: "CDCBM9" EXACT []
synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9" EXACT []
xref: MIM:618174
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
created_by: slaulede
creation_date: 2019-01-11T17:59:21Z

[Term]
id: DOID:9001006
name: Necrotizing Pneumonia
def: "Severe complication of pneumonia characterized by liquefaction of lung tissue." [MESH:D000071067]
synonym: "Necrotizing Pneumonias" EXACT []
xref: MESH:D000071067
is_a: DOID:552 ! pneumonia

[Term]
id: DOID:9001007
name: X-Linked Macular Dystrophy
alt_id: MIM:309100
xref: MESH:C564110
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:4448 ! macular degeneration
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9001008
name: Diverticulum
def: "A pouch or sac developed from a tubular or saccular organ, such as the GASTROINTESTINAL TRACT." [MESH:D004240]
synonym: "Diverticula" EXACT []
synonym: "Diverticulosis" EXACT []
xref: MESH:D004240
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9001009
name: Adult Pancreatic Cancer
xref: MESH:C535836
is_a: DOID:1793 ! pancreatic cancer
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:9001010
name: eye adnexa disease
def: "This encompasses disorders of the eyelids, tear drainage and orbital tissues." [https://www.mrverity.com/adnexal-disorders/what-is-adnexal-disease/]
synonym: "disorder of ocular adnexa" EXACT []
synonym: "eye adnexa disorder" EXACT []
synonym: "ocular adnexa disease" EXACT []
xref: EFO:0009546
is_a: DOID:5614 ! eye disease
created_by: slaulede
creation_date: 2022-10-25T16:14:33Z

[Term]
id: DOID:9001011
name: Bovine Tuberculosis
def: "An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals." [MESH:D014380]
synonym: "Bovine Tuberculoses" EXACT []
xref: EFO:1001441
xref: MESH:D014380
is_a: DOID:399 ! tuberculosis
is_a: DOID:9004723 ! Cattle Diseases

[Term]
id: DOID:9001012
name: Therapy-Related Myeloid Neoplasm
def: "This term covers acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." [NCI:C27912]
synonym: "acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related" EXACT []
synonym: "therapy-related acute myeloid leukemia and myelodysplastic syndrome" EXACT []
synonym: "therapy-related AML and MDS" EXACT []
xref: EFO:1000575
xref: NCI:C27912
is_a: DOID:0050908 ! myelodysplastic syndrome
is_a: DOID:0070004 ! myeloid neoplasm
created_by: slaulede
creation_date: 2022-09-29T15:21:42Z

[Term]
id: DOID:9001013
name: Diurnal Enuresis
def: "Involuntary discharge of URINE during the daytime while one is awake." [MESH:D053207]
synonym: "Daytime Urinary Incontinence" EXACT []
synonym: "Daytime Wetting" EXACT []
xref: MESH:D053207
xref: RDO:0007613
is_a: DOID:9008268 ! Enuresis

[Term]
id: DOID:9001014
name: Midline Granulomatosis
xref: MESH:C538667
xref: RDO:0004586
is_a: DOID:12132 ! granulomatosis with polyangiitis

[Term]
id: DOID:9001015
name: Intestinal Fistula
def: "An abnormal anatomical passage between the INTESTINE, and another segment of the intestine or other organs. External intestinal fistula is connected to the SKIN (enterocutaneous fistula). Internal intestinal fistula can be connected to a number of organs, such as STOMACH (gastrocolic fistula), the BILIARY TRACT (cholecystoduodenal fistula), or the URINARY BLADDER of the URINARY TRACT (colovesical fistula). Risk factors include inflammatory processes, cancer, radiation treatment, and surgical misadventures (MEDICAL ERRORS)." [MESH:D007412]
synonym: "Cholecystoduodenal Fistula" EXACT []
synonym: "Colovesical Fistula" EXACT []
synonym: "Enterocutaneous Fistula" EXACT []
xref: MESH:D007412
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9008038 ! Digestive System Fistula

[Term]
id: DOID:9001016
name: Acquired Ichthyosis
synonym: "Fish scale disease, acquired" EXACT []
synonym: "Ichthyosis acquisita" EXACT []
xref: MESH:C538175
is_a: DOID:1697 ! ichthyosis

[Term]
id: DOID:9001017
name: Pemphigus and Fogo Selvagem
synonym: "Brazilian pemphigus" EXACT []
synonym: "Brazilian pemphigus foliaceus" EXACT []
synonym: "Endemic pemphigus foliaceus" EXACT []
synonym: "South American pemphigus" EXACT []
xref: MESH:C535551
xref: RDO:0000733
is_a: DOID:9182 ! pemphigus

[Term]
id: DOID:9001018
name: Mouth Abnormalities
def: "Congenital absence of or defects in structures of the mouth." [MESH:D009056]
synonym: "Mouth Abnormality" EXACT []
xref: MESH:D009056
is_a: DOID:403 ! mouth disease
is_a: DOID:9006733 ! Stomatognathic System Abnormalities

[Term]
id: DOID:9001019
name: Typhlitis
def: "Necrotizing inflammation of the CECUM ('typhlon' in Greek), sometimes spreading to the APPENDIX and/or the ILEUM. Symptoms include ABDOMINAL PAIN and DIARRHEA. Its pathogenesis is multifactorial. Typhlitis is often associated with NEUTROPENIA and chemotherapy in immunocompromised individuals (IMMUNOCOMPROMISED HOST)." [MESH:D053706]
synonym: "Cecitis" EXACT []
synonym: "Neutropenic Typhlitis" EXACT []
xref: MESH:D053706
is_a: DOID:1518 ! cecal disease
is_a: DOID:2326 ! gastroenteritis
is_a: DOID:9002654 ! Intraabdominal Infections

[Term]
id: DOID:9001020
name: Eye Manifestations
def: "Ocular disorders attendant upon non-ocular disease or injury." [MESH:D005132]
synonym: "Eye Manifestation" EXACT []
xref: MESH:D005132
is_a: DOID:5614 ! eye disease
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9001022
name: Congenital Disorder of Glycosylation with Defective Fucosylation
def: "An autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability." []
synonym: "CDGF" EXACT []
xref: MIM:PS618005
is_a: DOID:5212 ! congenital disorder of glycosylation
created_by: slaulede
creation_date: 2019-01-11T13:49:39Z

[Term]
id: DOID:9001023
name: Absence of Septum Pellucidum
xref: MESH:C535562
xref: RDO:0000757
is_a: DOID:0060857 ! septooptic dysplasia

[Term]
id: DOID:9001024
name: Calabro Syndrome
xref: MESH:C537960
is_a: DOID:10426 ! Klippel-Feil syndrome
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9001018 ! Mouth Abnormalities
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9001627 ! Pathologic Constriction
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9001025
name: Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency
alt_id: MIM:165150
xref: MESH:C563498
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11514 ! fissured tongue
is_a: DOID:539 ! ophthalmoplegia

[Term]
id: DOID:9001026
name: Pulmonary Surfactant Metabolism Dysfunction 1
alt_id: MIM:265120
synonym: "congenital pulmonary alveolar proteinosis 1" EXACT []
synonym: "Interstitial Lung Disease Due To Surfactant Protein B Deficiency" EXACT []
synonym: "nonspecific interstitial lung disease due to surfactant protein B deficiency" EXACT []
synonym: "RAB5B-ASSOCIATED SURFACTANT DYSFUNCTION DISORDER" NARROW []
synonym: "SMDP1" EXACT []
xref: MESH:C566882
xref: NCI:C99068
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:9006807 ! Congenital Pulmonary Alveolar Proteinosis

[Term]
id: DOID:9001027
name: Tropical Calcific Pancreatitis
alt_id: MIM:608189
synonym: "TCP" EXACT []
xref: MESH:C564276
xref: RDO:0013298
is_a: DOID:182 ! calcinosis
is_a: DOID:9006190 ! Chronic Pancreatitis

[Term]
id: DOID:9001028
name: Scalp Defects, Postaxial Polydactyly
alt_id: MIM:181250
synonym: "congenital scalp defects associated with postaxial polydactyly" EXACT []
synonym: "scalp defects and postaxial polydactyly" EXACT []
xref: MESH:C536622
is_a: DOID:9003071 ! Postaxial Polydactyly

[Term]
id: DOID:9001029
name: Essential Athrombia
alt_id: MIM:209050
xref: MESH:C565927
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:9001030
name: Multiple Primary Neoplasms
alt_id: RDO:0005711
def: "Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites." [MESH:D009378]
synonym: "multiple primary neoplasm" EXACT []
synonym: "Synchronous Multiple Primary Neoplasms" EXACT []
synonym: "Synchronous Neoplasm" EXACT []
synonym: "synchronous neoplasms" EXACT []
xref: MESH:D009378
is_a: DOID:14566 ! disease of cellular proliferation

[Term]
id: DOID:9001031
name: Retrognathia
def: "A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead." [MESH:D063173]
synonym: "Mandibular Retroposition" EXACT []
synonym: "Mandibular Retropositions" EXACT []
synonym: "Mandibular Retrusion" EXACT []
synonym: "Mandibular Retrusions" EXACT []
synonym: "Maxillary Retroposition" EXACT []
synonym: "Maxillary Retropositions" EXACT []
synonym: "Maxillary Retrusion" EXACT []
synonym: "Maxillary Retrusions" EXACT []
synonym: "Retrognathias" EXACT []
synonym: "Retrognathism" EXACT []
synonym: "Retrognathisms" EXACT []
xref: MESH:D063173
is_a: DOID:9000066 ! Jaw Abnormalities
is_a: DOID:9006309 ! Mandibular Diseases

[Term]
id: DOID:9001033
name: Friedreich Ataxia Congenital Glaucoma
alt_id: MIM:229310
synonym: "Congenital glaucoma and Friedreich ataxia" EXACT []
xref: MESH:C538061
is_a: DOID:12705 ! Friedreich ataxia
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:9001034
name: Odontodysplasia
def: "A localized arrested tooth development which appears to involve most commonly the anterior teeth, usually on one side of the midline, most often the maxillary central and lateral incisors. Roentgenographically, the teeth have a ghostlike appearance. Calcification and bits of prismatic enamel may be found in the pulp and the enamel is thin and absent in part. (Jablonski, Illustrated Dictionary of Dentistry, 1982)" [MESH:D018126]
synonym: "Ghost Teeth" EXACT []
synonym: "Ghost Tooth" EXACT []
synonym: "odontodysplasias" EXACT []
synonym: "Odontogenesis Imperfecta" EXACT []
synonym: "Odontogenic Dysplasia" EXACT []
synonym: "odontogenic dysplasias" EXACT []
xref: MESH:D018126
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9001035
name: Hypercalciuria, Childhood Idiopathic
xref: MESH:C536082
xref: RDO:0001508
is_a: DOID:9001738 ! Hypercalciuria

[Term]
id: DOID:9001036
name: Penetrating Head Injuries
def: "Head injuries which feature compromise of the skull and dura mater. These may result from gunshot wounds (WOUNDS, GUNSHOT), stab wounds (WOUNDS, STAB), and other forms of trauma." [MESH:D020197]
synonym: "cortical stab injury" NARROW []
synonym: "Penetrating Brain Injuries" EXACT []
synonym: "Penetrating Brain Injury" EXACT []
synonym: "Penetrating Cranial Trauma" EXACT []
synonym: "Penetrating Cranial Traumas" EXACT []
synonym: "Penetrating Craniocerebral Trauma" EXACT []
synonym: "Penetrating Craniocerebral Traumas" EXACT []
synonym: "Penetrating Head Injury" EXACT []
synonym: "Penetrating Head Trauma" EXACT []
synonym: "Penetrating Head Traumas" EXACT []
synonym: "Penetrating Missile Injuries, Head" EXACT []
xref: MESH:D020197
is_a: DOID:9000656 ! Penetrating Wounds
is_a: DOID:9007621 ! Craniocerebral Trauma

[Term]
id: DOID:9001038
name: GSD IV, Neuromuscular Form, Congenital
xref: MESH:C565542
xref: RDO:0014150
is_a: DOID:2750 ! glycogen storage disease IV
is_a: DOID:440 ! neuromuscular disease

[Term]
id: DOID:9001039
name: Leukocytosis
def: "A transient increase in the number of leukocytes in a body fluid." [MESH:D007964]
synonym: "Leukocytoses" EXACT []
synonym: "Pleocytoses" EXACT []
synonym: "Pleocytosis" EXACT []
xref: MESH:D007964
is_a: DOID:9004611 ! Pathologic Processes
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9001040
name: Sinus Node Disease and Myopia
alt_id: MIM:182190
synonym: "Sick Sinus Syndrome and Myopia" EXACT []
synonym: "SSS-Myopia Syndrome" EXACT []
xref: MESH:C566690
is_a: DOID:11830 ! myopia
is_a: DOID:13884 ! sick sinus syndrome

[Term]
id: DOID:9001041
name: Asphyxia
def: "A pathological condition caused by lack of oxygen, manifested in impending or actual cessation of life." [MESH:D001237]
synonym: "Asphyxias" EXACT []
synonym: "Suffocation" EXACT []
synonym: "Suffocations" EXACT []
xref: EFO:0009446
xref: MESH:D001237
is_a: DOID:9000543 ! Death
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9001042
name: Neurodevelopmental Disorder with Seizures and Brain Abnormalities
def: "An autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life associated with structural brain defects on brain imaging. Caused by homozygous mutation in the CLCN3 gene on chromosome 4q33." [MIM:619517]
synonym: "NEDSBA" EXACT []
xref: MIM:619517
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006534 ! Nervous System Malformations
created_by: mtutaj
creation_date: 2022-11-21T16:11:15Z

[Term]
id: DOID:9001043
name: Medically Unexplained Symptoms
def: "Persistent health symptoms which remain unexplained after a complete medical evaluation. A cluster of symptoms that consistently appear together but without a known cause are referred to as a MEDICALLY UNEXPLAINED SYNDROME (MUS)." [MESH:D000071896]
synonym: "Medically Unexplained Symptom" EXACT []
synonym: "Somatic Symptom" EXACT []
synonym: "Somatic Symptoms" EXACT []
xref: MESH:D000071896
xref: RDO:0016110
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9001044
name: Choroidal Neovascularization
def: "A pathological process consisting of the formation of new blood vessels in the CHOROID." [MESH:D020256]
synonym: "Choroidal Neovascularizations" EXACT []
synonym: "Choroid Neovascularization" EXACT []
synonym: "Choroid Neovascularizations" EXACT []
xref: MESH:D020256
xref: RDO:0007376
is_a: DOID:1417 ! choroid disease
is_a: DOID:9002493 ! Ocular Neovascularization
is_a: DOID:9003204 ! Neovascularization, Pathologic

[Term]
id: DOID:9001045
name: Chromosome 3, Monosomy 3p2
synonym: "Chromosome 3, deletion of distal 3p" EXACT []
synonym: "Chromosome 3, distal 3p monosomy" EXACT []
synonym: "Chromosome 3 distal deletion" EXACT []
synonym: "Monosomy 3p2" EXACT []
xref: MESH:C536806
xref: RDO:0002498
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9001046
name: Desbuquois Dysplasia 2
def: "Desbuquois dysplasia-2 (DBQD2) is caused by homozygous or compound heterozygous mutation in the XYLT1 gene on chromosome 16p12." []
synonym: "Baratela-Scott syndrome" EXACT []
synonym: "DBQD2" EXACT []
xref: MIM:615777
is_a: DOID:0060462 ! Desbuquois dysplasia
created_by: rgd
creation_date: 2017-03-03T00:00:00Z

[Term]
id: DOID:9001047
name: Slipped Capital Femoral Epiphyses
alt_id: MIM:182260
def: "A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip." [MESH:D060048]
synonym: "Adolescent Coxa Vara" EXACT []
synonym: "adolescent coxa varas" EXACT []
synonym: "Bilateral Slipped Capital Femoral Epiphyses" EXACT []
synonym: "Bilateral Slipped Capital Femoral Epiphysis" EXACT []
synonym: "Epiphysiolysis Capitis Femoris" EXACT []
synonym: "Slipped Capital Femoral Epiphysis" EXACT []
synonym: "Unilateral Slipped Capital Femoral Epiphyses" EXACT []
synonym: "unilateral slipped capital femoral epiphysis" EXACT []
xref: MESH:D060048
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007203 ! Slipped Epiphyses

[Term]
id: DOID:9001048
name: Nociceptive Pain
def: "Dull or sharp aching pain caused by stimulated NOCICEPTORS due to tissue injury, inflammation or diseases. It can be divided into somatic or tissue pain and VISCERAL PAIN." [MESH:D059226]
synonym: "Nociceptive Pains" EXACT []
synonym: "Somatic Pain" EXACT []
synonym: "Somatic Pains" EXACT []
synonym: "Tissue Pain" EXACT []
synonym: "Tissue Pains" EXACT []
xref: MESH:D059226
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9001049
name: Staphylococcal Pneumonia
def: "Pneumonia caused by infections with bacteria of the genus STAPHYLOCOCCUS, usually with STAPHYLOCOCCUS AUREUS." [MESH:D011023]
synonym: "Methicillin-Resistant Staphylococcus Aureus Pneumonia" NARROW []
synonym: "Staphylococcal Pneumonias" EXACT []
synonym: "Staphylococcus Aureus Pneumonia" EXACT []
synonym: "Staphylococcus Aureus Pneumonias" EXACT []
xref: EFO:0007496
xref: EFO:0008556
xref: MESH:D011023
is_a: DOID:874 ! bacterial pneumonia
is_a: DOID:9008885 ! Staphylococcal Infections

[Term]
id: DOID:9001050
name: Short QT Syndrome 2
alt_id: MIM:609621
synonym: "KCNQ1-related short QT syndrome" EXACT []
synonym: "SHORT QT SYNDROME TYPE 2" EXACT []
synonym: "SQT2" EXACT []
xref: MESH:C566505
is_a: DOID:0050793 ! short QT syndrome
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9001051
name: Seroma
def: "Tumor-like sterile accumulation of serum in a tissue, organ, or cavity. It results from a tissue insult and is the product of tissue inflammation. It most commonly occurs following MASTECTOMY." [MESH:D049291]
synonym: "Seromas" EXACT []
xref: MESH:D049291
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:9001052
name: Spondylospinal Thoracic Dysostosis
alt_id: MIM:601809
xref: MESH:C566622
is_a: DOID:1934 ! dysostosis
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:9001053
name: Facial Injuries
def: "General or unspecified injuries to the soft tissue or bony portions of the face." [MESH:D005151]
synonym: "Facial Injury" EXACT []
xref: MESH:D005151
xref: RDO:0005558
is_a: DOID:9007621 ! Craniocerebral Trauma

[Term]
id: DOID:9001054
name: Chromosome 2, Monosomy 2q24
synonym: "Deletion 2q24" EXACT []
synonym: "Monosomy 2q24" EXACT []
xref: MESH:C538316
xref: RDO:0004278
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9001055
name: Oculoauriculofrontonasal Syndrome
alt_id: MIM:601452
synonym: "oculoauriculofrontonasal dysplasia" EXACT []
xref: MESH:C537865
is_a: DOID:225 ! syndrome
is_a: DOID:9007870 ! Respiratory System Abnormalities
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9001056
name: Holoprosencephaly 14
def: "An autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum. Caused by homozygous mutation in PLCH1 gene on chromosome 3q25." [MIM:619895]
synonym: "HPE14" EXACT []
xref: MIM:619895
is_a: DOID:4621 ! holoprosencephaly
created_by: mtutaj
creation_date: 2022-05-31T08:12:18Z

[Term]
id: DOID:9001057
name: Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related
synonym: "Arcii" EXACT []
xref: MESH:C567370
xref: RDO:0015458
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:9001058
name: Solar Urticaria
def: "Chromophore-dependent photodermatosis triggered by UV and visible light." []
xref: MESH:D000092130
is_a: DOID:1555 ! urticaria
created_by: mtutaj
creation_date: 2022-12-12T14:12:55Z

[Term]
id: DOID:9001059
name: Inhibition of Lymphoblastic Transformation
alt_id: MIM:247430
xref: MESH:C565433
is_a: DOID:2914 ! immune system disease

[Term]
id: DOID:9001060
name: JOUBERT SYNDROME 35
synonym: "JBTS35" EXACT []
xref: MIM:618161
is_a: DOID:0050777 ! Joubert syndrome
created_by: slaulede
creation_date: 2018-12-06T15:50:34Z

[Term]
id: DOID:9001061
name: Atypical Krabbe Disease due to Saposin A Deficiency
alt_id: MIM:611722
synonym: "KRBSAPA" EXACT []
synonym: "Saposin A Deficiency" EXACT []
xref: MESH:C567097
is_a: DOID:10587 ! Krabbe disease

[Term]
id: DOID:9001062
name: Normal Tension Glaucoma
alt_id: RDO:0009042
synonym: "Normal Pressure Glaucoma, Susceptibility To" RELATED []
synonym: "Normal Tension Glaucomas" EXACT []
synonym: "Normal Tension Glaucoma, Susceptibility To" RELATED []
synonym: "NPG" EXACT []
synonym: "NTG" EXACT []
xref: MIM:606657
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:9001063
name: Viral Skin Diseases
def: "Skin diseases caused by viruses." [MESH:D017193]
synonym: "Viral Skin Disease" EXACT []
xref: MESH:D017193
xref: RDO:0005546
is_a: DOID:9000859 ! Infectious Skin Diseases
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9001064
name: Hao-Fountain Syndrome
def: "This disease is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies." []
synonym: "chromosome 16p13.2 deletion syndrome" RELATED []
synonym: "HAFOUS" EXACT []
synonym: "HAO-FOUNTAIN SYNDROME DUE TO USP7 MUTATION" EXACT []
synonym: "intellectual developmental disorder with impaired speech, behavioral abnormalities, and dysmorphic facies" EXACT []
synonym: "USP7-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
xref: MIM:616863
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2020-06-16T12:25:58Z

[Term]
id: DOID:9001065
name: Noncirrhotic Portal Hypertension 1
def: "An autosomal recessive disorder characterized by onset of portal hypertension associated with hepatosplenomegaly in the first or second decades of life, in the absence of cirrhosis, known extrahepatic diseases, or splanchnic venous thrombosis. Caused by homozygous mutation in the DGUOK gene on chromosome 2p13. (OMIM)" []
synonym: "NCPH1" EXACT []
xref: MIM:617068
is_a: DOID:10762 ! portal hypertension
created_by: mtutaj
creation_date: 2021-08-06T16:09:45Z

[Term]
id: DOID:9001066
name: Laryngocele
def: "Congenital anomalous dilitation of the laryngeal saccule that may extend internally into the airway or externally through the thyrohyoid membrane." [MESH:D059608]
synonym: "Laryngoceles" EXACT []
xref: MESH:D059608
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9007870 ! Respiratory System Abnormalities

[Term]
id: DOID:9001067
name: Familial Macrocytosis
alt_id: MIM:600084
alt_id: RDO:0013107
xref: MESH:C564004
is_a: DOID:74 ! hematopoietic system disease

[Term]
id: DOID:9001069
name: Bardet-Biedl Syndrome 6/10, Digenic
xref: RDO:9001091
is_a: DOID:0110128 ! Bardet-Biedl syndrome 6
is_a: DOID:0110132 ! Bardet-Biedl syndrome 10

[Term]
id: DOID:9001070
name: Schofer Beetz Bohl Syndrome
xref: MESH:C535949
is_a: DOID:1059 ! intellectual disability
is_a: DOID:182 ! calcinosis
is_a: DOID:225 ! syndrome
is_a: DOID:9005627 ! Metabolic Brain Diseases
is_a: DOID:9409 ! diabetes insipidus

[Term]
id: DOID:9001072
name: Abducens Nerve Injury
def: "Traumatic injury to the abducens, or sixth, cranial nerve. Injury to this nerve results in lateral rectus muscle weakness or paralysis. The nerve may be damaged by closed or penetrating CRANIOCEREBRAL TRAUMA or by facial trauma involving the orbit." [MESH:D020222]
synonym: "Abducens Nerve Injuries" EXACT []
synonym: "Abducens Nerve Trauma" EXACT []
synonym: "Abducens Nerve Traumas" EXACT []
synonym: "Cranial Nerve VI Injury" EXACT []
synonym: "Sixth Cranial Nerve Injuries" EXACT []
synonym: "Sixth Cranial Nerve Injury" EXACT []
synonym: "Sixth Nerve Trauma" EXACT []
synonym: "Sixth-Nerve Traumas" EXACT []
synonym: "Traumatic Abducens Neuropathies" EXACT []
synonym: "Traumatic Abducens Neuropathy" EXACT []
synonym: "Traumatic Sixth-Nerve Palsies" EXACT []
synonym: "Traumatic Sixth Nerve Palsy" EXACT []
xref: MESH:D020222
is_a: DOID:10865 ! abducens nerve palsy
is_a: DOID:9000598 ! Cranial Nerve Injuries

[Term]
id: DOID:9001073
name: Precocious Graying of Hair
alt_id: MIM:139100
synonym: "premature white hair" EXACT []
xref: MESH:C564209
is_a: DOID:10123 ! pigmentation disease

[Term]
id: DOID:9001074
name: Posterior Leukoencephalopathy Syndrome
def: "A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies)." [MESH:D054038]
synonym: "Posterior leukoencephalopathy syndromes" EXACT []
synonym: "Posterior reversible encephalopathy syndrome" EXACT []
synonym: "Posterior reversible leukoencephalopathy syndrome" EXACT []
xref: EFO:1001829
xref: MESH:D054038
is_a: DOID:225 ! syndrome
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9427 ! hypertensive encephalopathy

[Term]
id: DOID:9001075
name: Cerebelloparenchymal Disorder VI
xref: MESH:C563564
xref: RDO:0012789
is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome
is_a: DOID:2786 ! cerebellar disease

[Term]
id: DOID:9001077
name: Spinal Injuries
def: "Injuries involving the vertebral column." [MESH:D013124]
synonym: "Spinal Injury" EXACT []
xref: MESH:D013124
is_a: DOID:9002683 ! Back Injuries

[Term]
id: DOID:9001078
name: Fibrocartilaginous Embolism
synonym: "Nucleus pulposus embolism" EXACT []
xref: MESH:C537927
is_a: DOID:1222 ! cartilage disease
is_a: DOID:9002522 ! Embolism

[Term]
id: DOID:9001079
name: Rinderpest
def: "A viral disease of cloven-hoofed animals caused by MORBILLIVIRUS. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010." [MESH:D012301]
synonym: "Cattle Plague" EXACT []
xref: MESH:D012301
is_a: DOID:9003860 ! Morbillivirus Infections
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9001080
name: Robinow Sorauf Syndrome
alt_id: MIM:180750
synonym: "acrocephalosyndactyly, Robinow-Sorauf type" EXACT []
synonym: "craniosynostosis-bifid hallux syndrome" EXACT []
xref: MESH:C537183
is_a: DOID:12960 ! acrocephalosyndactylia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9001081
name: Erythema Chronicum Migrans
def: "A deep type of gyrate erythema that follows a bite by an ixodid tick; it is a stage-1 manifestation of LYME DISEASE. The site of the bite is characterized by a red papule that expands peripherally as a nonscaling, palpable band that clears centrally. This condition is often associated with systemic symptoms such as chills, fever, headache, malaise, nausea, vomiting, fatigue, backache, and stiff neck." [MESH:D015787]
xref: MESH:D015787
is_a: DOID:11729 ! Lyme disease
is_a: DOID:9003209 ! Bacterial Skin Diseases
is_a: DOID:9006976 ! Erythema

[Term]
id: DOID:9001082
name: Ectodermal Dysplasia with Natal Teeth, Turnpenny Type
alt_id: MIM:601345
synonym: "ECTODERMAL DYSPLASIA, HAIR/TOOTH TYPE" EXACT []
xref: MESH:C563347
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:9001083
name: Autosomal Recessive Woolly Hair
synonym: "autosomal recessive woolly hair 1, with or without hypotrichosis" RELATED []
xref: MESH:C564735
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0111572 ! familial woolly hair syndrome

[Term]
id: DOID:9001084
name: Progressive Supranuclear Palsy 2
alt_id: MIM:609454
synonym: "PSNP2" EXACT []
xref: MESH:C563717
is_a: DOID:678 ! progressive supranuclear palsy

[Term]
id: DOID:9001085
name: wrist fractures
synonym: "carpal fractures" EXACT []
synonym: "wrist fracture" EXACT []
xref: EFO:0009515
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9007634 ! Wrist Injuries
created_by: slaulede
creation_date: 2023-01-20T12:33:53Z

[Term]
id: DOID:9001086
name: Cerebellar Ataxia and Neurosensory Deafness
alt_id: MIM:212850
xref: MESH:C565869
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:10003 ! sensorineural hearing loss

[Term]
id: DOID:9001087
name: Opsoclonus-Myoclonus Syndrome
def: "A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system." [MESH:D053578]
synonym: "Dancing Eyes Dancing Feet Syndrome" EXACT []
synonym: "Infants Myoclonic Encephalopathies" EXACT []
synonym: "Infants Myoclonic Encephalopathy" EXACT []
synonym: "Kinsbourne Syndrome" EXACT []
synonym: "Myoclonic Encephalopathy of Infants" EXACT []
synonym: "Opsoclonus Myoclonus" EXACT []
synonym: "Opsoclonus Myoclonus Ataxia" EXACT []
synonym: "Paraneoplastic Opsoclonus Myoclonus Ataxia" EXACT []
xref: EFO:1001383
xref: MESH:D053578
xref: RDO:0000685
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:225 ! syndrome
is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes
is_a: DOID:9007722 ! Myoclonus

[Term]
id: DOID:9001088
name: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
alt_id: MIM:612813
synonym: "SEMDAG" EXACT []
synonym: "SEMD, Aggrecan Type" EXACT []
xref: MESH:C567558
xref: RDO:0015607
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9001089
name: Cerebellar Ataxia and Hypergonadotropic Hypogonadism
alt_id: MIM:605672
xref: MESH:C565308
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1924 ! hypogonadism

[Term]
id: DOID:9001090
name: Question Mark Ears, Isolated
synonym: "AURICULAR CLEFT, CONGENITAL" EXACT []
synonym: "COSMAN DEFORMITY OF THE AURICLE" EXACT []
synonym: "EARS, PROMINENT AND CONSTRICTED" EXACT []
synonym: "QME" EXACT []
xref: MIM:612798
is_a: DOID:2742 ! auditory system disease

[Term]
id: DOID:9001091
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES
alt_id: MIM:618653
def: "An autosomal dominant disorder characterized by global developmental delay apparent from infancy, impaired language development, and dysmorphic facial features, including hypertelorism, epicanthal folds, and abnormal palpebral fissures." [MIM:618653]
synonym: "IDDILF" EXACT []
xref: EFO:0010651
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
created_by: slaulede
creation_date: 2020-01-09T18:27:09Z

[Term]
id: DOID:9001094
name: Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities
synonym: "ISDNA" EXACT []
xref: MIM:617425
is_a: DOID:0080001 ! bone disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:2914 ! immune system disease
is_a: DOID:627 ! severe combined immunodeficiency
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9001095
name: Koone Rizzo Elias Syndrome
synonym: "Ichthyosis, mental retardation and asymptomatic spasticity" EXACT []
xref: MESH:C537023
xref: RDO:0002775
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:9007428 ! Muscle Spasticity

[Term]
id: DOID:9001096
name: Gorlin Chaudhry Moss Syndrome
synonym: "Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies" EXACT []
synonym: "GCM syndrome" EXACT []
xref: MESH:C537290
is_a: DOID:13832 ! patent ductus arteriosus
is_a: DOID:225 ! syndrome
is_a: DOID:420 ! hypertrichosis
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9001097
name: Absence of Tibia with Congenital Deafness
alt_id: MIM:275230
xref: MESH:C564764
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9001098
name: Optic Nerve Aplasia, Bilateral
xref: MESH:C563493
xref: RDO:0012736
is_a: DOID:1891 ! optic nerve disease

[Term]
id: DOID:9001099
name: Hydranencephaly with Renal Aplasia-Dysplasia
xref: MESH:C565507
xref: RDO:0014123
is_a: DOID:4626 ! hydranencephaly
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9001101
name: Gemignani Syndrome
synonym: "Spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis" EXACT []
xref: MESH:C537678
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:9002121 ! Spinocerebellar Ataxias
is_a: DOID:9002598 ! Spastic Paraparesis

[Term]
id: DOID:9001102
name: Radiodermatitis
def: "A cutaneous inflammatory reaction occurring as a result of exposure to ionizing radiation." [MESH:D011855]
synonym: "Radiation-Induced Dermatitides" EXACT []
synonym: "Radiation Induced Dermatitis" EXACT []
synonym: "Radiation Recall Dermatitides" EXACT []
synonym: "Radiation Recall Dermatitis" EXACT []
synonym: "Radiation Recall Reaction" EXACT []
synonym: "Radiation Recall Reactions" EXACT []
synonym: "Radiodermatitides" EXACT []
xref: MESH:D011855
is_a: DOID:2723 ! dermatitis
is_a: DOID:9000111 ! Radiation Injuries

[Term]
id: DOID:9001103
name: Heat Stress Disorders
def: "A group of conditions that develop due to overexposure or overexertion in excessive environmental heat." [MESH:D018882]
synonym: "Heat Cramp" EXACT []
synonym: "Heat Cramps" EXACT []
synonym: "Heat Stress Disorder" EXACT []
synonym: "Heat Stress Syndrome" EXACT []
synonym: "Heat Stress Syndromes" EXACT []
xref: MESH:D018882
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9001104
name: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
def: "Characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. Caused by homozygous or compound heterozygous mutation in the MYH11 gene on chromosome 16p13. (OMIM)" []
synonym: "MMIHS2" EXACT []
xref: MIM:619351
is_a: DOID:0060610 ! megacystis-microcolon-intestinal hypoperistalsis syndrome
created_by: mtutaj
creation_date: 2021-05-28T13:28:27Z

[Term]
id: DOID:9001105
name: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE
def: "An autosomal recessive disorder characterized by onset of developmental regression with loss of early motor and cognitive milestones in the first year of life. Affected individuals show growth retardation with decreasing head circumference and poor feeding. Brain imaging shows cerebral, cerebellar, and brainstem atrophy and thin corpus callosum." [MIM:618973]
synonym: "infantile-onset biotin-responsive neurodegeneration" EXACT []
synonym: "NERIB" EXACT []
synonym: "SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER DEFICIENCY SMVT DEFICIENCY" EXACT []
xref: MIM:618973
is_a: DOID:1289 ! neurodegenerative disease
created_by: slaulede
creation_date: 2020-12-15T13:00:54Z

[Term]
id: DOID:9001106
name: Congenital Muscular Dystrophy plus Mental Retardation
alt_id: RDO:0014121
xref: MESH:C565505
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:1059 ! intellectual disability

[Term]
id: DOID:9001107
name: Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death
alt_id: MIM:208910
xref: MESH:C565930
is_a: DOID:12704 ! ataxia telangiectasia
is_a: DOID:9003984 ! Hyperpigmentation

[Term]
id: DOID:9001109
name: Anorexia
def: "The lack or loss of APPETITE accompanied by an aversion to food and the inability to eat. It is the defining characteristic of the disorder ANOREXIA NERVOSA." [MESH:D000855]
synonym: "Anorexias" EXACT []
xref: MESH:D000855
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:9001110
name: Hermansky-Pudlak Syndrome 11
synonym: "HPS11" EXACT []
xref: MIM:619172
is_a: DOID:3753 ! Hermansky-Pudlak syndrome
created_by: mtutaj
creation_date: 2021-02-01T18:19:20Z

[Term]
id: DOID:9001111
name: Blast Injuries
def: "Injuries resulting when a person is struck by particles impelled with violent force from an explosion. Blast causes pulmonary concussion and hemorrhage, laceration of other thoracic and abdominal viscera, ruptured ear drums, and minor effects in the central nervous system. (From Dorland, 27th ed)" [MESH:D001753]
synonym: "Blast Injury" EXACT []
xref: MESH:D001753
is_a: DOID:9002160 ! Barotrauma

[Term]
id: DOID:9001112
name: Nievergelt Syndrome
alt_id: MIM:163400
synonym: "Mesomelic dwarfism Nievergelt type" EXACT []
synonym: "Mesomelic Dysplasia, Nievergelt Type" EXACT []
xref: MESH:C536120
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9009006 ! Mesomelic Dysplasia

[Term]
id: DOID:9001113
name: Stab Wounds
def: "Penetrating wounds caused by a pointed object." [MESH:D014951]
synonym: "Stab Wound" EXACT []
xref: MESH:D014951
is_a: DOID:9000656 ! Penetrating Wounds

[Term]
id: DOID:9001114
name: Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies
def: "A systemic immunologic disorder with onset in early infancy. Primary features include lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. caused by heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11." [MIM:619750]
synonym: "IMD94" EXACT []
xref: MIM:619750
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9004150 ! Lymphadenopathy
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: mtutaj
creation_date: 2022-02-24T09:53:37Z

[Term]
id: DOID:9001115
name: Orbital Fractures
def: "Fractures of the bones in the orbit, which include parts of the frontal, ethmoidal, lacrimal, and sphenoid bones and the maxilla and zygoma." [MESH:D009917]
synonym: "Blow-Out Fracture" EXACT []
synonym: "Blow Out Fractures" EXACT []
synonym: "Orbital Fracture" EXACT []
xref: EFO:0009611
xref: MESH:D009917
is_a: DOID:9002209 ! Skull Fractures
is_a: DOID:9004460 ! Maxillofacial Injuries

[Term]
id: DOID:9001116
name: Mental Retardation with Spastic Paraplegia
alt_id: MIM:309640
xref: MESH:C564099
is_a: DOID:1059 ! intellectual disability
is_a: DOID:607 ! paraplegia

[Term]
id: DOID:9001117
name: Aicardi-Goutieres Syndrome 8
def: "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Caused by homozygous or compound heterozygous mutation in the LSM11 gene on chromosome 5q33. (OMIM)" []
synonym: "AGS8" EXACT []
xref: MIM:619486
is_a: DOID:0050629 ! Aicardi-Goutieres syndrome
created_by: mtutaj
creation_date: 2021-08-25T10:47:23Z

[Term]
id: DOID:9001118
name: Equinus Deformity
def: "Plantar declination of the foot." [MESH:D004863]
synonym: "Equinus Contracture" EXACT []
synonym: "Equinus Contractures" EXACT []
synonym: "Equinus Deformities" EXACT []
synonym: "Talipes Equinovalgus" EXACT []
synonym: "Talipes Equinus" EXACT []
xref: MESH:D004863
is_a: DOID:9007152 ! Talipes

[Term]
id: DOID:9001119
name: chondromyxoid fibroma
def: "This tumor is an uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." [NCI:C3830]
xref: EFO:0000332
is_a: DOID:0050871 ! fibroma
is_a: DOID:0060094 ! bone benign neoplasm
created_by: slaulede
creation_date: 2023-01-10T18:08:06Z

[Term]
id: DOID:9001121
name: Platybasia
def: "A developmental deformity of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward. (Dorland, 27th ed)" [MESH:D010985]
synonym: "Basilar Impression" EXACT []
synonym: "Basilar Impressions" EXACT []
synonym: "Platybasias" EXACT []
xref: MESH:D010985
is_a: DOID:0060564 ! spinal disease
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9001122
name: Onat Syndrome
alt_id: MIM:271960
synonym: "Subaortic stenosis short stature syndrome" EXACT []
xref: MESH:C537749
is_a: DOID:1712 ! aortic valve stenosis
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001123
name: Preeclampsia/Eclampsia 2
alt_id: MIM:609402
synonym: "PEE2" EXACT []
xref: MESH:C563726
is_a: DOID:10591 ! pre-eclampsia

[Term]
id: DOID:9001124
name: Chromosome 4 Short Arm Deletion
synonym: "Chromosome 4p deletion" EXACT []
synonym: "Deletion 4p" EXACT []
synonym: "Monosomy 4p" EXACT []
xref: MESH:C537637
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9001125
name: Vohwinkel Syndrome, Variant Form
alt_id: MIM:604117
synonym: "LORICRIN KERATODERMA" EXACT []
synonym: "Mutilating Keratoderma with Ichthyosis" EXACT []
synonym: "Vohwinkel Syndrome with Ichthyosis" EXACT []
xref: MESH:C565826
xref: RDO:0014364
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9001127
name: Porokeratosis 2, Palmar, Plantar, and Disseminated Type
alt_id: MIM:175850
def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Porokeratosis palmaris plantaris et disseminata (PPPD) is a subtype in which lesions initially develop on the palms and soles, but later involve other parts of the body, including the trunk and limbs. POROK2 maps to chromosome 12q24. (OMIM)" []
synonym: "POROK2" EXACT []
synonym: "porokeratosis palmaris et plantaris disseminata" EXACT []
synonym: "porokeratosis, palmar, plantar, and disseminated" EXACT []
synonym: "porokeratosis, palmar, plantar, and disseminated 1" EXACT []
synonym: "Porokeratosis Punctata Palmaris et Plantaris" EXACT []
synonym: "PPPD" EXACT []
synonym: "PPPD1" EXACT []
xref: MESH:C536338
is_a: DOID:0060361 ! punctate palmoplantar keratoderma
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:3805 ! porokeratosis

[Term]
id: DOID:9001128
name: Usher Syndrome, Type 2B
synonym: "USHER SYNDROME, TYPE IIB" EXACT []
xref: MESH:C536491
xref: RDO:0002093
is_a: DOID:0110827 ! Usher syndrome type 2

[Term]
id: DOID:9001129
name: Alcohol Withdrawal Delirium
def: "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" [MESH:D000430]
synonym: "Alcohol Withdrawal Associated Autonomic Hyperactivity" EXACT []
synonym: "Alcohol Withdrawal Hallucinosis" EXACT []
synonym: "Alcohol Withdrawal Induced Delirium Tremens" EXACT []
synonym: "Delirium Tremens" EXACT []
xref: EFO:1000800
xref: MESH:D000430
is_a: DOID:9002735 ! alcohol withdrawal syndrome
is_a: DOID:9007727 ! Alcohol-Induced Disorders, Nervous System

[Term]
id: DOID:9001130
name: Limb-Girdle Myasthenia, with Tubular Aggregates
alt_id: RDO:0014787
xref: MESH:C566434
is_a: DOID:3635 ! congenital myasthenic syndrome

[Term]
id: DOID:9001131
name: stress-related disorder
def: "This is a mental health disorder that is the result of an atypical response to both short and long-term anxiety due to physical, mental, or emotional stress." [EFO:0010098]
synonym: "stress-related disorders" EXACT []
xref: EFO:0010098
is_a: DOID:9004763 ! Trauma and Stressor Related Disorders
created_by: slaulede
creation_date: 2023-01-27T10:18:20Z

[Term]
id: DOID:9001133
name: Autosomal Dominant Nonsyndromic Deafness 82
def: "Characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade, although later onset may rarely occur. Caused by heterozygous mutation in the ATP2B2 gene on chromosome 3p26." [MIM:619804]
synonym: "ATP2B2-RELATED DISORDER" BROAD []
synonym: "ATP2B2-RELATED PROGRESSIVE HEARING IMPAIRMENT" EXACT []
synonym: "autosomal dominant deafness 82" EXACT []
synonym: "DFNA82" EXACT []
xref: MIM:619804
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2022-03-25T12:19:34Z

[Term]
id: DOID:9001134
name: Cryptomicrotia Brachydactyly Syndrome
alt_id: MIM:123560
synonym: "Cryptomicrotia brachydactyly syndrome excess fingertip arch" EXACT []
synonym: "Tonoki Ohura Niikawa syndrome" EXACT []
xref: MESH:C536219
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001135
name: Systemic Necrotizing Angiitis
synonym: "Systemic necrotizing angitis" EXACT []
xref: MESH:C536779
is_a: DOID:9810 ! polyarteritis nodosa

[Term]
id: DOID:9001136
name: Familial Cerebral Cavernous Malformation
synonym: "Familial cavernous hemangioma" EXACT []
synonym: "Familial cerebral cavernous angioma" EXACT []
xref: GARD:13641
xref: MESH:C536610
xref: MONDO:0031037
is_a: DOID:0060669 ! cerebral cavernous malformation

[Term]
id: DOID:9001137
name: Mesomelic Dysplasia, Camera Type
alt_id: MIM:611886
xref: MESH:C567503
is_a: DOID:9009006 ! Mesomelic Dysplasia

[Term]
id: DOID:9001138
name: Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract
alt_id: MIM:226985
xref: MESH:C565584
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001139
name: Androgenetic Alopecia 2
alt_id: MIM:300710
alt_id: RDO:0015536
synonym: "AGA2" EXACT []
xref: MESH:C567473
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9001140
name: Familial Partial Lipodystrophy Type 7
alt_id: MIM:606721
synonym: "FPLD7" EXACT []
synonym: "LCCNS" EXACT []
synonym: "Lipodystrophy with Congenital Cataracts and Neurodegeneration" EXACT []
synonym: "PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME" EXACT []
xref: MESH:C564669
is_a: DOID:0050440 ! familial partial lipodystrophy
is_a: DOID:83 ! cataract
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:9001141
name: Autosomal Dominant Intellectual Developmental Disorder 66
def: "Characterized by global developmental delay with mild to moderately impaired intellectual development and mild speech delay. Caused by heterozygous mutation in the ATP2B1 gene on chromosome 12q21." [MIM:619910]
synonym: "autosomal dominant mental retardation 66" EXACT []
synonym: "MRD66" EXACT []
xref: MIM:619910
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-06-13T11:22:27Z

[Term]
id: DOID:9001142
name: Drug-Induced Agranulocytosis
def: "Agranulocytosis related to ingestion of a specific medication (e.g.:clozapine). " []
synonym: "clozapine-induced agranulocytosis" NARROW []
xref: RDO:9001180
is_a: DOID:9004289 ! Drug-Induced Leukopenia
is_a: DOID:9007038 ! Acquired Agranulocytosis
created_by: rgd
creation_date: 2016-06-01T00:00:00Z

[Term]
id: DOID:9001143
name: Intertrigo
def: "A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation." [MESH:D007402]
xref: MESH:D007402
is_a: DOID:2723 ! dermatitis
is_a: DOID:9004383 ! Eczematous Skin Diseases

[Term]
id: DOID:9001144
name: Primary Headache Disorders
alt_id: RDO:0006127
def: "Conditions in which the primary symptom is HEADACHE and the headache cannot be attributed to any known causes." [MESH:D051270]
synonym: "Alarm Clock Headache" EXACT []
synonym: "alarm clock headaches" EXACT []
synonym: "Benign Cough Headache" EXACT []
synonym: "Benign Cough Headaches" EXACT []
synonym: "Benign Exertional Headache" EXACT []
synonym: "Benign Exertional Headaches" EXACT []
synonym: "Cough Headache" EXACT []
synonym: "Hypnic Headache" EXACT []
synonym: "Hypnic Headache Syndrome" EXACT []
synonym: "Hypnic Headache Syndromes" EXACT []
synonym: "Ice Pick Headache" EXACT []
synonym: "Ice-Pick Headaches" EXACT []
synonym: "Primary Cough Headache" EXACT []
synonym: "Primary Exertional Headache" EXACT []
synonym: "Primary Headache Disorder" EXACT []
synonym: "Primary Stabbing Headache" EXACT []
synonym: "Primary Thunderclap Headache" EXACT []
synonym: "Stabbing Headache" EXACT []
synonym: "thunderclap headache" EXACT []
xref: MESH:D051270
is_a: DOID:9007953 ! Headache Disorders

[Term]
id: DOID:9001145
name: Junctional Epidermolysis Bullosa 1B, Severe
synonym: "JEB1B" EXACT []
xref: MIM:226700
is_a: DOID:0060737 ! junctional epidermolysis bullosa Herlitz type
created_by: mtutaj
creation_date: 2022-06-07T11:14:07Z

[Term]
id: DOID:9001146
name: Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures
synonym: "glycosylphosphatidylinositol biosynthesis defect 22" EXACT []
synonym: "GPIBD22" EXACT []
synonym: "NEDHCAS" EXACT []
xref: MIM:618879
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
created_by: mtutaj
creation_date: 2020-07-13T12:27:18Z

[Term]
id: DOID:9001147
name: Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy
alt_id: MIM:600142
synonym: "CARASIL" EXACT []
synonym: "CARASIL SYNDROME" EXACT []
synonym: "Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease" EXACT []
synonym: "Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago without Arterial Hypertension" EXACT []
synonym: "HTRA1-RELATED CEREBRAL SMALL VESSEL DISEASE" EXACT []
synonym: "MAEDA Syndrome" EXACT []
synonym: "Nemoto Disease" EXACT []
synonym: "progressive subcortical vascular encephalopathy" EXACT []
xref: MESH:C563990
xref: NCI:C202018
is_a: DOID:0060564 ! spinal disease
is_a: DOID:13945 ! CADASIL
is_a: DOID:3526 ! cerebral infarction
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9001148
name: Esophageal Perforation
def: "An opening or hole in the ESOPHAGUS that is caused by TRAUMA, injury, or pathological process." [MESH:D004939]
synonym: "Esophageal Perforations" EXACT []
xref: MESH:D004939
is_a: DOID:6050 ! esophageal disease
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9001150
name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES
def: "An autosomal recessive disorder characterized by severe global developmental delay." [MIM:618622]
synonym: "ABNORMALITY OF THE CEREBRUM" NARROW []
synonym: "NEDMABA" EXACT []
xref: EFO:0010631
xref: MIM:618622
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:10907 ! microcephaly
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2019-11-12T14:56:34Z

[Term]
id: DOID:9001151
name: Pili Torti Onychodysplasia
synonym: "Twisted hair with nail dysplasias" EXACT []
xref: MESH:C537399
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9001511 ! Pili Torti

[Term]
id: DOID:9001152
name: Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block
alt_id: MIM:609438
xref: MESH:C537452
is_a: DOID:10126 ! keratoconus
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9003846 ! Sinoatrial Block

[Term]
id: DOID:9001153
name: FG Syndrome 4
def: "This disease is an X-linked recessive intellectual developmental disorder characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features." []
synonym: "CASK-related disorder" BROAD []
synonym: "FGS4" EXACT []
synonym: "INTELLECTUAL DISABILITY, CASK-RELATED, X-LINKED" BROAD []
synonym: "X-linked intellectual developmental disorder, with or without nystagmus" RELATED []
synonym: "X-linked mental retardation, CASK-related" BROAD []
synonym: "X-linked mental retardation, with nystagmus" RELATED []
synonym: "X-linked mental retardation, with or without nystagmus" RELATED []
xref: EFO:0010954
xref: MIM:300422
is_a: DOID:14711 ! FG syndrome
created_by: mtutaj
creation_date: 2020-02-17T12:57:19Z

[Term]
id: DOID:9001154
name: Flat Umbilicus Familial
alt_id: MIM:609164
synonym: "Flat umbilicus autosomal dominant" EXACT []
xref: MESH:C537059
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001155
name: Myasthenia Gravis with Thymus Hyperplasia
alt_id: MIM:607085
synonym: "MYAS1" EXACT []
xref: MESH:C564628
xref: RDO:0013523
is_a: DOID:437 ! myasthenia gravis

[Term]
id: DOID:9001156
name: Oculootofacial Dysplasia
xref: MESH:C563682
xref: RDO:0012877
is_a: DOID:10488 ! imperforate anus
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9001158
name: Saito Kuba Tsuruta Syndrome
alt_id: MIM:228940
synonym: "Fibuloulnar aplasia or hypoplasia with renal abnormalities" EXACT []
synonym: "Fibulo ulnar hypoplasia renal anomalies" EXACT []
xref: MESH:C537226
is_a: DOID:225 ! syndrome
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9001159
name: Familial Dyskeratotic Comedones
alt_id: MIM:120450
xref: MESH:C562838
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9008246 ! Papulosquamous Skin Diseases

[Term]
id: DOID:9001160
name: Pulmonary Bullae Causing Pneumothorax
alt_id: MIM:265200
xref: MESH:C564863
is_a: DOID:1673 ! pneumothorax
is_a: DOID:9008110 ! Blister

[Term]
id: DOID:9001161
name: Autoinflammatory Disease, Familial, Behcet-Like-3
synonym: "AIFBL3" EXACT []
synonym: "chronic mucocutaneous ulceration" EXACT []
synonym: "chronic mucocutaneous ulcerations" EXACT []
synonym: "CMCU" EXACT []
synonym: "RELA-RELATED CONDITION" EXACT []
xref: MIM:618287
is_a: DOID:2058 ! chronic mucocutaneous candidiasis
is_a: DOID:9005986 ! Familial Behcet-Like Autoinflammatory Syndrome
created_by: slaulede
creation_date: 2019-07-15T12:46:03Z

[Term]
id: DOID:9001162
name: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
xref: MESH:C565306
xref: RDO:0013981
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:3136 ! scalp dermatosis

[Term]
id: DOID:9001163
name: Parkinsonism-Dystonia, Childhood-Onset, 3
def: "An autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the WARS2 gene on chromosome 1p12." [MIM:619738]
synonym: "PKDYS3" EXACT []
synonym: "WARS2-RELATED CONDITION" BROAD []
synonym: "WARS2-RELATED DISORDER" BROAD []
xref: MIM:619738
is_a: DOID:0070487 ! dopamine transporter deficiency syndrome
created_by: mtutaj
creation_date: 2022-02-21T13:02:56Z

[Term]
id: DOID:9001164
name: Proctocolitis
def: "Inflammation of the RECTUM and the distal portion of the COLON." [MESH:D011350]
synonym: "Hemorrhagic Proctocolitis" EXACT []
synonym: "Hemorrhagic Rectocolitis" EXACT []
synonym: "Proctosigmoiditis" EXACT []
synonym: "Rectocolitis" EXACT []
synonym: "Rectosigmoiditis" EXACT []
synonym: "Ulcerative Proctocolitides" EXACT []
synonym: "Ulcerative Proctocolitis" EXACT []
synonym: "Ulcerative Rectocolitides" EXACT []
synonym: "Ulcerative Rectocolitis" EXACT []
xref: EFO:1001223
xref: MESH:D011350
is_a: DOID:0060180 ! colitis
is_a: DOID:1897 ! sigmoid disease
is_a: DOID:3127 ! proctitis

[Term]
id: DOID:9001165
name: pemphigus herpetiformis
def: "This is a rare autoimmune bullous skin disorder that is considered a clinical variant of pemphigus. Classically, it combines the clinical features of dermatitis herpetiformis with the immunopathologic features of pemphigus." [EFO:0008606]
synonym: "PH" EXACT []
xref: EFO:0008606
is_a: DOID:9182 ! pemphigus
created_by: slaulede
creation_date: 2023-01-16T17:46:54Z

[Term]
id: DOID:9001166
name: atypical femoral fracture
def: "This is a stress or insufficency fracture occurring in the femoral shaft, typically in response to long-term antiresorptive treatment. The term 'atypical' refers to the deviant transverse pattern on the fracture-line on radiographs of the affected femur." [EFO:0009960]
synonym: "bisphosphonate-related proximal femoral fracture" EXACT []
xref: EFO:0009960
is_a: DOID:9008763 ! Femoral Fractures
created_by: slaulede
creation_date: 2023-01-13T10:18:53Z

[Term]
id: DOID:9001167
name: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM
def: "This disease is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern." [MIM:619244]
synonym: "NEDCAFD" EXACT []
xref: MIM:619244
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9004462 ! Atrophy
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: slaulede
creation_date: 2021-05-14T10:49:24Z

[Term]
id: DOID:9001169
name: Ridges-off-the-end Syndrome
alt_id: MIM:125550
synonym: "Dermal Ridges-Off-The-End" EXACT []
xref: MESH:C531754
is_a: DOID:225 ! syndrome
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9001170
name: Stoll Alembik Dott Syndrome
synonym: "Ventricular extrasystoles with syncope, perodactyly, and robin sequence" EXACT []
xref: MESH:C537497
is_a: DOID:225 ! syndrome
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9000727 ! Syncope
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007033 ! Ventricular Premature Complexes

[Term]
id: DOID:9001171
name: Acrorenal Syndrome Recessive
alt_id: MIM:201310
alt_id: RDO:0000916
synonym: "Acrorenal syndrome autosomal recessive" EXACT []
synonym: "Curran syndrome" EXACT []
xref: MESH:C535666
is_a: DOID:0060347 ! acrorenal syndrome
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:9001172
name: FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19
synonym: "cardiomyopathy familial hypertrophic 19" EXACT []
synonym: "CMH19" EXACT []
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy
created_by: slaulede
creation_date: 2019-10-08T17:29:07Z

[Term]
id: DOID:9001173
name: ACTH Syndrome, Ectopic
def: "Symptom complex due to ACTH production by non-pituitary neoplasms." [MESH:D000182]
synonym: "Ectopic ACTH Syndromes" EXACT []
xref: EFO:1001256
xref: MESH:D000182
xref: RDO:0004721
is_a: DOID:9006730 ! Paraneoplastic Endocrine Syndromes

[Term]
id: DOID:9001174
name: Nakajo Syndrome
synonym: "Nodular erythema digital changes" EXACT []
synonym: "Nodular Erythema With Digital Changes" EXACT []
xref: MESH:C538334
is_a: DOID:0080750 ! erythema nodosum
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9001175
name: Ganglioneuromatosis of the Alimentary Tract
xref: MESH:C563519
is_a: DOID:10016 ! multiple endocrine neoplasia type 2B
is_a: DOID:4817 ! ganglioneuroma
is_a: DOID:9004351 ! Digestive System Neoplasms

[Term]
id: DOID:9001176
name: Hyperamylasemia
def: "A condition with abnormally elevated level of AMYLASES in the serum. Hyperamylasemia due to PANCREATITIS or other causes may be differentiated by identifying the amylase isoenzymes." [MESH:D034321]
synonym: "Macroamylasemia" EXACT []
xref: EFO:1000969
xref: MESH:D034321
xref: RDO:0007485
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9001177
name: Central Nervous System Fungal Infections
def: "MYCOSES of the brain, spinal cord, and meninges which may result in ENCEPHALITIS; MENINGITIS, FUNGAL; MYELITIS; BRAIN ABSCESS; and EPIDURAL ABSCESS. Certain types of fungi may produce disease in immunologically normal hosts, while others are classified as opportunistic pathogens, causing illness primarily in immunocompromised individuals (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME)." [MESH:D020314]
synonym: "Central Nervous System Mycoses" EXACT []
xref: MESH:D020314
xref: RDO:0007016
is_a: DOID:1564 ! fungal infectious disease
is_a: DOID:9000025 ! Central Nervous System Infections

[Term]
id: DOID:9001178
name: Carcinoma 256, Walker
def: "A transplantable carcinoma of the rat that originally appeared spontaneously in the mammary gland of a pregnant albino rat, and which now resembles a carcinoma in young transplants and a sarcoma in older transplants. (Stedman, 25th ed)" [MESH:D002279]
synonym: "Walker Carcinosarcoma 256" EXACT []
xref: MESH:D002279
is_a: DOID:4236 ! carcinosarcoma
is_a: DOID:9002170 ! Experimental Neoplasms

[Term]
id: DOID:9001179
name: Isotretinoin Embryopathy Like Syndrome
alt_id: MIM:243440
synonym: "Isotretinoin teratogen syndrome" EXACT []
synonym: "Microtia aortic arch syndrome" EXACT []
synonym: "Syndrome of microtia and aortic arch anomalies" EXACT []
xref: MESH:C535542
is_a: DOID:225 ! syndrome
is_a: DOID:9001502 ! Congenital Microtia
is_a: DOID:9007828 ! Abnormalities, Drug-Induced

[Term]
id: DOID:9001180
name: Duodenal Ulcer, Hyperpepsinogenemic I
alt_id: MIM:126850
xref: MESH:C565086
is_a: DOID:1724 ! duodenal ulcer

[Term]
id: DOID:9001181
name: Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism
synonym: "CHROMOSOME XQ28 DELETION SYNDROME" EXACT []
synonym: "CHROMOSOME Xq28 DELETION SYNDROME, 3.4-KB" EXACT []
synonym: "MYMY4" EXACT []
synonym: "syndromic Moyamoya disease" EXACT []
xref: MIM:300845
is_a: DOID:13099 ! Moyamoya disease
is_a: DOID:1924 ! hypogonadism
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9001182
name: Junctional Epidermolysis Bullosa Inversa
synonym: "Epidermolysis Bullosa Inversa Dystrophica" EXACT []
synonym: "JEB-I" EXACT []
synonym: "JEB inversa" EXACT []
xref: MESH:C535958
xref: MONDO:0019308
xref: ORDO:79405
is_a: DOID:0060738 ! junctional epidermolysis bullosa non-Herlitz type
is_a: DOID:4959 ! epidermolysis bullosa dystrophica

[Term]
id: DOID:9001183
name: Bhaskar Jagannathan Syndrome
xref: MESH:C535437
xref: RDO:0000547
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9005367 ! Arachnodactyly
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001184
name: Widow's Peak Syndrome
alt_id: MIM:314570
synonym: "Widow's Peak, Ptosis, and Skeletal Anomalies" EXACT []
xref: MESH:C564040
is_a: DOID:0060260 ! ptosis
is_a: DOID:225 ! syndrome
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9001185
name: Coloboma of Macula with Type B Brachydactyly
alt_id: MIM:120400
synonym: "Apical dystrophy" EXACT []
synonym: "Coloboma of Macula - Type B Brachydactyly" EXACT []
synonym: "Sorsby syndrome" EXACT []
xref: MESH:C535969
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:12270 ! coloboma

[Term]
id: DOID:9001186
name: Retinitis Pigmentosa 93
def: "Characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Caused by compound heterozygous mutation in the CC2D2A gene on chromosome 4p15." [MIM:619845]
synonym: "RP93" EXACT []
xref: MIM:619845
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2022-04-21T15:06:20Z

[Term]
id: DOID:9001187
name: Horse Diseases
def: "Diseases of domestic and wild horses of the species Equus caballus." [MESH:D006734]
synonym: "Equine Disease" EXACT []
synonym: "Equine Diseases" EXACT []
synonym: "Horse Disease" EXACT []
xref: MESH:D006734
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9001189
name: Drug Overdose
alt_id: RDO:0012108
def: "Accidental or deliberate use of a medication or street drug in excess of normal dosage." [MESH:D062787]
synonym: "Drug Overdoses" EXACT []
synonym: "intentional overdose" NARROW []
xref: EFO:0020911
xref: EFO:0020924
xref: MESH:D062787
is_a: DOID:9974 ! drug dependence

[Term]
id: DOID:9001190
name: Macrodactyly of the Hand
synonym: "Megalodactylism of the hand" EXACT []
synonym: "Megalodactyly of the hand" EXACT []
xref: MESH:C537720
xref: RDO:0003609
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9001191
name: Cadmium Poisoning
def: "Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." [MESH:D002105]
synonym: "Cadmium Poisonings" EXACT []
synonym: "Itai Itai" EXACT []
xref: EFO:1001768
xref: MESH:D002105
xref: RDO:0005092
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:9001192
name: Alpha-2-Deficient Collagen Disease
alt_id: MIM:203760
synonym: "Meigel Disease" EXACT []
xref: MESH:C565963
is_a: DOID:630 ! genetic disease
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:9001193
name: Metaphyseal Anadysplasia
synonym: "Early-onset regressive form of metaphyseal dysplasia" EXACT []
xref: MESH:C537351
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9001195
name: Teebi Kaurah Syndrome
xref: MESH:C536948
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9001196
name: Nervous System Heredodegenerative Disorders
def: "Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems." [MESH:D020271]
synonym: "Degenerative Disease, Nervous System, Hereditary" EXACT []
synonym: "Degenerative Hereditary Disorders, Nervous System" EXACT []
synonym: "Hereditary Neurodegenerative Disease" EXACT []
synonym: "Hereditary Neurodegenerative Diseases" EXACT []
synonym: "INHERITED NEURODEGENERATIVE DISORDER" EXACT []
synonym: "Nervous System Degenerative Hereditary Diseases" EXACT []
xref: MESH:D020271
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9001197
name: Unilateral Deafness with Delayed Endolymphatic Hydrops
alt_id: MIM:612097
xref: MESH:C567420
is_a: DOID:9001767 ! Unilateral Hearing Loss

[Term]
id: DOID:9001198
name: Hypophosphatemic Rickets, Autosomal Recessive, 2
alt_id: MIM:613312
synonym: "ARHR2" EXACT []
xref: MESH:C567647
is_a: DOID:0050949 ! autosomal recessive hypophosphatemic rickets

[Term]
id: DOID:9001199
name: Galloway-Mowat Syndrome 7
def: "Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome. GAMOS7 is caused by homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15." [MIM:618348]
synonym: "GAMOS7" EXACT []
xref: MIM:618348
is_a: DOID:0080694 ! Galloway-Mowat syndrome
created_by: gthayman
creation_date: 2019-03-12T12:03:52Z

[Term]
id: DOID:9001200
name: Xylosidase Deficiency
alt_id: MIM:278900
xref: MESH:C564730
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:9001201
name: Methemoglobinemia, Alpha-Globin Type
alt_id: MIM:617973
synonym: "ERYTHREMIA, ALPHA-GLOBIN TYPE" EXACT []
synonym: "HEMOGLOBIN M (IWATE)" RELATED []
synonym: "HEMOGLOBIN M (KANKAKEE)" RELATED []
synonym: "HEMOGLOBIN M (OLDENBURG)" RELATED []
synonym: "HEMOGLOBIN M (SENDAI)" RELATED []
synonym: "methemoglobinemia, alpha type" EXACT []
xref: MESH:C564194
is_a: DOID:10783 ! methemoglobinemia

[Term]
id: DOID:9001202
name: Aryl Hydrocarbon Hydroxylase Inducibility
alt_id: MIM:108340
synonym: "AHH Inducibility" EXACT []
xref: MESH:C566250
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9001203
name: Turnpenny-Fry Syndrome
def: "Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations. TPFS is caused by heterozygous mutation in the PCGF2 gene on chromosome 17q12." [MIM:618371]
synonym: "NEUROCARDIOSKELETAL SYNDROME" EXACT []
synonym: "PCGF2-RELATED CONDITION" EXACT []
xref: MIM:618371
is_a: DOID:0050888 ! syndromic intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008086 ! Developmental Disabilities
created_by: gthayman
creation_date: 2019-03-29T12:30:47Z

[Term]
id: DOID:9001204
name: Dyspepsia
alt_id: DOID:2321
def: "Impaired digestion, especially after eating." []
synonym: "Dyspepsia, indigestion" EXACT []
synonym: "dyspepsias" EXACT []
synonym: "Indigestion" EXACT []
synonym: "indigestions" EXACT []
xref: EFO:0008533
xref: MESH:D004415
xref: NCI:C26756
is_a: DOID:1159 ! functional gastric disease
is_a: DOID:9003977 ! Digestive Signs and Symptoms
created_by: mtutaj
creation_date: 2019-11-21T08:01:43Z

[Term]
id: DOID:9001205
name: Experimental Autoimmune Orchitis
synonym: "autoimmune aspermatogenic orchitis" EXACT []
synonym: "EAO" EXACT []
is_a: DOID:2518 ! orchitis
is_a: DOID:9006205 ! Animal Disease Models

[Term]
id: DOID:9001206
name: CoQ-Responsive OXPHOS Deficiency
alt_id: MIM:608158
xref: MESH:C535470
is_a: DOID:14701 ! propionic acidemia
is_a: DOID:3652 ! Leigh disease

[Term]
id: DOID:9001207
name: Disseminated Hemangiomatosis
xref: MESH:C566283
xref: RDO:0014679
is_a: DOID:255 ! hemangioma

[Term]
id: DOID:9001209
name: Cohen-Gibson Syndrome
def: "An overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. (OMIM)" []
synonym: "COGIS" EXACT []
xref: MIM:617561
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
created_by: rgd
creation_date: 2017-08-08T00:00:00Z

[Term]
id: DOID:9001210
name: Osteoarthritis with Mild Chondrodysplasia
alt_id: MIM:604864
synonym: "NAMAQUALAND HIP DYSPLASIA" EXACT []
synonym: "NHD" EXACT []
synonym: "OSCDP" EXACT []
xref: MESH:C565740
xref: NCI:C202115
xref: RDO:0014298
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:8398 ! osteoarthritis

[Term]
id: DOID:9001211
name: cerebral venous thrombosis
def: "This disease involves formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow." [HP:0005305]
synonym: "cerebral vein thrombosis" EXACT []
synonym: "CVT" EXACT []
synonym: "thrombosis of cerebral vein" EXACT []
is_a: DOID:4193 ! intracranial thrombosis
is_a: DOID:9003871 ! Venous Thrombosis
created_by: slaulede
creation_date: 2023-09-26T13:03:09Z

[Term]
id: DOID:9001212
name: 46,XX Gonadal Dysgenesis Epibulbar Dermoid
xref: MESH:C535316
xref: RDO:0000363
is_a: DOID:14450 ! 46 XX gonadal dysgenesis
is_a: DOID:2658 ! dermoid cyst

[Term]
id: DOID:9001213
name: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT
def: "An autosomal recessive neurogenic disorder with onset in utero or early childhood. Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys." [MIM:191800]
synonym: "ACONTRACTILE DETRUSOR" EXACT []
synonym: "BAIPRCK" EXACT []
synonym: "CHRNA3-RELATED CONDITION" BROAD []
synonym: "URINARY BLADDER, ATONY OF" EXACT []
xref: MIM:191800
is_a: DOID:0080205 ! CAKUT
is_a: DOID:11504 ! autonomic neuropathy
is_a: DOID:11518 ! abnormal pupillary function
is_a: DOID:12143 ! neurogenic bladder
created_by: slaulede
creation_date: 2020-02-11T10:28:54Z

[Term]
id: DOID:9001215
name: Sick Sinus Syndrome 3
synonym: "SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO" EXACT []
synonym: "SSS3" EXACT []
xref: MIM:614090
is_a: DOID:13884 ! sick sinus syndrome
created_by: mtutaj
creation_date: 2021-08-06T15:47:04Z

[Term]
id: DOID:9001216
name: Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia
xref: MESH:C564704
is_a: DOID:0110197 ! Charcot-Marie-Tooth disease dominant intermediate B
is_a: DOID:1227 ! neutropenia

[Term]
id: DOID:9001218
name: Apudoma
def: "A general term collectively applied to tumors associated with the APUD CELLS series, irrespective of their specific identification." [MESH:D001079]
synonym: "Apudomas" EXACT []
xref: MESH:D001079
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:657 ! adenoma

[Term]
id: DOID:9001219
name: respiratory toxicity
def: "This is toxicity that impairs the respiratory system or damages its function. It is a poisonous effect of some substances, both toxic chemicals and medications." [EFO:0011060]
synonym: "lung toxicity" EXACT []
xref: EFO:0011060
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:9004611 ! Pathologic Processes
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions
created_by: slaulede
creation_date: 2022-10-20T15:06:19Z

[Term]
id: DOID:9001220
name: X Chromosome, Trisomy Xpter Xq13
synonym: "Duplication Xpter Xq13" EXACT []
synonym: "Trisomy Xpter Xq13" EXACT []
xref: MESH:C536731
xref: RDO:0002397
is_a: DOID:9003307 ! Sex Chromosome Aberrations
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9001221
name: Thrombocytopenia Paris-Trousseau Type
alt_id: MIM:188025
synonym: "CHROMOSOME 11q23 DELETION SYNDROME" EXACT []
synonym: "TCPT" EXACT []
xref: MESH:C538617
xref: RDO:0004544
is_a: DOID:0111723 ! Jacobsen Syndrome

[Term]
id: DOID:9001222
name: Renal-Hepatic-Pancreatic Dysplasia 2
synonym: "RHPD2" EXACT []
xref: MIM:615415
is_a: DOID:0060259 ! renal-hepatic-pancreatic dysplasia

[Term]
id: DOID:9001223
name: Chromosome 10, Uniparental Disomy of
synonym: "Mosaic trisomy 10" EXACT []
synonym: "Uniparental disomy of 10" EXACT []
xref: MESH:C538292
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:9001224
name: Striae Distensae
def: "Linear dermal scars accompanied by epidermal atrophy that affects skin that is subjected to continuous stretching. They usually do not cause any significant medical problems, only cosmetic problems." [MESH:D057896]
synonym: "Stretch Mark" EXACT []
synonym: "Stretch Marks" EXACT []
xref: MESH:D057896
is_a: DOID:9007472 ! Skin Manifestations

[Term]
id: DOID:9001225
name: Sclerotylosis
alt_id: RDO:0003383
def: "Huriez syndrome (HRZ) is characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nail changes. The development of aggressive squamous cell carcinoma (SCC) in areas of affected skin is a distinctive feature of the syndrome, occurring in approximately 15% of patients. HRZ-associated SCC shows early onset, mostly in the third to fourth decades of life, and early metastasis formation. HRZ is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22. (OMIM)" []
synonym: "HRZ" EXACT []
synonym: "Huriez syndrome" EXACT []
synonym: "KERATODERMA WITH SCLEROATROPHY OF THE EXTREMITIES" EXACT []
synonym: "Scleroatrophic and keratotic dermatosis of limbs" EXACT []
synonym: "TYS" EXACT []
xref: MESH:C537526
xref: MIM:181600
is_a: DOID:161 ! keratosis
is_a: DOID:8472 ! localized scleroderma
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:9001227
name: Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related
alt_id: RDO:0012638
synonym: "DOID:9001820" EXACT []
xref: MESH:C563358
is_a: DOID:1272 ! telangiectasis
is_a: DOID:9001820 ! Pulmonary Arterial Hypertension

[Term]
id: DOID:9001228
name: Fungemia
def: "The presence of fungi circulating in the blood. Opportunistic fungal sepsis is seen most often in immunosuppressed patients with severe neutropenia or in postoperative patients with intravenous catheters and usually follows prolonged antibiotic therapy." [MESH:D016469]
synonym: "Fungemias" EXACT []
xref: MESH:D016469
xref: RDO:0006958
is_a: DOID:0050136 ! systemic mycosis
is_a: DOID:9004484 ! Sepsis
is_a: DOID:9006058 ! Invasive Fungal Infections

[Term]
id: DOID:9001229
name: Arthrogryposis Epileptic Seizures Migrational Brain Disorder
synonym: "Arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder" EXACT []
xref: MESH:C537442
xref: RDO:0003285
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:1826 ! epilepsy
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001230
name: Universal Melanosis
xref: MESH:C563594
is_a: DOID:9001583 ! Melanosis

[Term]
id: DOID:9001231
name: Sessile Serrated Polyposis Cancer Syndrome
def: "A rare disorder characterized by the presence of multiple serrated polyps in the colon and an increased personal and familial risk of colorectal cancer. (OMIM)" []
synonym: "RNF43-RELATED CONDITION" EXACT []
synonym: "SSPCS" EXACT []
xref: MIM:617108
xref: MONDO:0014919
is_a: DOID:0050424 ! familial adenomatous polyposis
is_a: DOID:225 ! syndrome
created_by: rgd
creation_date: 2016-10-18T00:00:00Z

[Term]
id: DOID:9001232
name: Pili Annulati
alt_id: MIM:180600
synonym: "Ringed hair" EXACT []
xref: MESH:C537187
is_a: DOID:421 ! hair disease

[Term]
id: DOID:9001234
name: Prenatal Exposure Delayed Effects
def: "The consequences of exposing the FETUS in utero to certain factors, such as NUTRITION PHYSIOLOGICAL PHENOMENA; PHYSIOLOGICAL STRESS; DRUGS; RADIATION; and other physical or chemical factors. These consequences are observed later in the offspring after BIRTH." [MESH:D011297]
synonym: "Late Effects, Prenatal Exposure" EXACT []
xref: MESH:D011297
xref: RDO:0006410
is_a: DOID:9007023 ! Prenatal Injuries

[Term]
id: DOID:9001235
name: Pruritus Ani
def: "Intense chronic itching in the anal area." [MESH:D011538]
xref: MESH:D011538
is_a: DOID:3128 ! anus disease
is_a: DOID:9006202 ! Pruritus

[Term]
id: DOID:9001236
name: Endarteritis
def: "Inflammation of the inner endothelial lining (TUNICA INTIMA) of an artery." [MESH:D004692]
synonym: "Endarteritides" EXACT []
xref: EFO:0009084
xref: MESH:D004692
xref: RDO:0005481
is_a: DOID:9002564 ! Arteritis

[Term]
id: DOID:9001237
name: Malignant Atrophic Papulosis
alt_id: MIM:602248
def: "Variously described as a vasculopathy, endovasculitis, or occlusive arteriopathy, this condition occurs in a benign cutaneous form and a lethal multiorgan systemic variant. It is characterized by a narrowing and occlusion of the lumen of small to medium-sized blood vessels, leading to ischemia and infarction in the involved organ systems. The etiology and pathophysiology are unknown." [MESH:D054853]
synonym: "Degos's Malignant Atrophic Papulosis" EXACT []
synonym: "Degos Disease" EXACT []
synonym: "Degos Syndrome" EXACT []
synonym: "Erythrokeratoderma en cocardes" EXACT []
synonym: "Kohlmeier-Degos Disease" EXACT []
synonym: "Malignant Atrophic Papuloses" EXACT []
xref: MESH:D054853
is_a: DOID:865 ! vasculitis
is_a: DOID:9006474 ! Arterial Occlusive Diseases
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:9001238
name: Growth Hormone Excess
xref: MESH:C531600
is_a: DOID:2449 ! acromegaly

[Term]
id: DOID:9001239
name: Delayed Puberty
def: "The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not." [MESH:D011628]
xref: MESH:D011628
is_a: DOID:2277 ! gonadal disease

[Term]
id: DOID:9001240
name: Peripheral Nerve Injuries
def: "Injuries to the PERIPHERAL NERVES." [MESH:D059348]
synonym: "Peripheral Nerve Injury" EXACT []
xref: EFO:0009510
xref: MESH:D059348
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9003740 ! Nerve Injuries
is_a: DOID:9006062 ! Nervous System Trauma

[Term]
id: DOID:9001241
name: Bronchial Neoplasms
def: "Tumors or cancer of the BRONCHI." [MESH:D001984]
synonym: "bronchial neoplasm" EXACT []
synonym: "bronchial neoplasms" EXACT []
synonym: "bronchus neoplasm" EXACT []
synonym: "neoplasm of bronchus" EXACT []
xref: EFO:1000849
xref: MESH:D001984
is_a: DOID:1176 ! bronchial disease
is_a: DOID:9005172 ! Lung Neoplasms
created_by: mtutaj
creation_date: 2020-04-21T09:15:38Z

[Term]
id: DOID:9001242
name: Alopecia, Hypogonadism, Extrapyramidal Disorder
synonym: "Progressive extrapyramidal disorder with primary hypogonadism and alopecia" EXACT []
xref: MESH:C537053
is_a: DOID:1924 ! hypogonadism
is_a: DOID:679 ! basal ganglia disease
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9001243
name: Pulmonary Arteriovenous Fistulas
alt_id: MIM:265140
xref: MESH:C562404
is_a: DOID:9005605 ! Arteriovenous Fistula

[Term]
id: DOID:9001244
name: Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis
def: "An autosomal recessive disorder of skeletal muscle characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the MLIP gene on chromosome 6p12." [MIM:620138]
synonym: "MMCKR" EXACT []
xref: MIM:620138
is_a: DOID:423 ! myopathy
is_a: DOID:9003760 ! Myalgia
created_by: mtutaj
creation_date: 2022-12-05T08:37:33Z

[Term]
id: DOID:9001245
name: Junctional Epidermolysis Bullosa 2A, Intermediate
synonym: "intermediate junctional epidermolysis bullosa 2A" EXACT []
synonym: "JEB2A" EXACT []
synonym: "Junctional Epidermolysis Bullosa 2A, Generalized Intermediate" EXACT []
synonym: "Junctional Epidermolysis Bullosa 2A, Non-Herlitz Type" EXACT []
xref: MIM:619783
is_a: DOID:0060738 ! junctional epidermolysis bullosa non-Herlitz type
created_by: mtutaj
creation_date: 2022-06-07T11:38:49Z

[Term]
id: DOID:9001246
name: Non-Filarial Lymphedema
def: "A form of elephantiasis caused by soil particles which penetrate the skin of the foot. It is limited to tropical regions with soils of high volcanic content." [MESH:D062846]
synonym: "Non-Filarial Lymphedemas" EXACT []
xref: MESH:D062846
xref: RDO:0012110
is_a: DOID:4977 ! lymphedema

[Term]
id: DOID:9001247
name: Galloway-Mowat Syndrome 9
def: "An autosomal recessive disorder characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood. Caused by homozygous mutation in the GON7 gene on chromosome 14q32." [MIM:619603]
synonym: "GAMOS9" EXACT []
xref: MIM:619603
is_a: DOID:0080694 ! Galloway-Mowat syndrome
created_by: mtutaj
creation_date: 2021-11-10T13:43:35Z

[Term]
id: DOID:9001248
name: Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency
synonym: "EBS3" EXACT []
synonym: "EBSB2" RELATED []
synonym: "epidermolysis bullosa simplex, autosomal recessive 2" RELATED []
xref: MIM:615425
is_a: DOID:4644 ! epidermolysis bullosa simplex

[Term]
id: DOID:9001249
name: Bernard-Soulier Syndrome Type A1
synonym: "Bernard-Soulier syndrome type A" EXACT []
xref: MESH:C565548
is_a: DOID:2217 ! Bernard-Soulier syndrome

[Term]
id: DOID:9001250
name: Transient Neonatal Diabetes Mellitus, 3
alt_id: MIM:610582
synonym: "TNDM3" EXACT []
xref: MESH:C566432
is_a: DOID:0060334 ! transient neonatal diabetes mellitus

[Term]
id: DOID:9001251
name: Microspherophakia
xref: MESH:C563255
is_a: DOID:10124 ! corneal disease
is_a: DOID:1686 ! glaucoma
is_a: DOID:9004201 ! Ectopia Lentis

[Term]
id: DOID:9001253
name: Glutaric Aciduria 2
synonym: "Glutaric acidemia 2 A" EXACT []
synonym: "GLUTARIC ACIDEMIA TYPE 2A" EXACT []
xref: MESH:C536834
is_a: DOID:0060358 ! multiple acyl-CoA dehydrogenase deficiency
is_a: DOID:9009132 ! Glutaric Aciduria

[Term]
id: DOID:9001254
name: Epidermolysis Bullosa Simplex 5D with Nail Dystrophy
synonym: "autosomal recessive generalized intermediate epidermolysis bullosa simplex 5D" EXACT []
synonym: "EBS5D" EXACT []
synonym: "EBSND" EXACT []
synonym: "epidermolysis bullosa simplex with nail dystrophy" EXACT []
xref: MIM:616487
is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type
is_a: DOID:4123 ! nail disease

[Term]
id: DOID:9001255
name: Kabuki Syndrome 1
synonym: "KABUK1" EXACT []
synonym: "KMT2D-RELATED CONDITION" BROAD []
synonym: "KMT2D-RELATED DISORDERS" BROAD []
xref: MIM:147920
is_a: DOID:0060473 ! Kabuki syndrome
created_by: mtutaj
creation_date: 2019-12-19T15:17:15Z

[Term]
id: DOID:9001256
name: Nabais Sa-de Vries Syndrome, Type 1
synonym: "NEDMIDF" EXACT []
synonym: "neurodevelopmental disorder with microcephaly and dysmorphic facies" EXACT []
synonym: "NSDVS1" EXACT []
xref: MIM:618828
is_a: DOID:10907 ! microcephaly
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2020-05-15T14:42:29Z

[Term]
id: DOID:9001258
name: Bent Bone Dysplasia Syndrome 1
synonym: "BBDS1" EXACT []
synonym: "DISTINCT BENT BONE DYSPLASIA" NARROW []
synonym: "FGFR2-related bent bone dysplasia" EXACT []
synonym: "perinatal lethal bent bone dysplasia" EXACT []
xref: GARD:10965
xref: MIM:614592
xref: MONDO:0013815
xref: ORDO:313855
is_a: DOID:9006314 ! Bent Bone Dysplasia Syndrome

[Term]
id: DOID:9001259
name: Blepharophimosis with Ptosis, Syndactyly, and Short Stature
alt_id: MIM:210745
xref: MESH:C536235
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:11193 ! syndactyly
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001260
name: CHITAYAT SYNDROME
def: "A rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose. (OMIM)" []
synonym: "CHYTS" EXACT []
xref: MIM:617180
is_a: DOID:1148 ! polydactyly
is_a: DOID:12716 ! newborn respiratory distress syndrome
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008589 ! Hallux Valgus
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:9008965 ! Bronchomalacia

[Term]
id: DOID:9001261
name: Ileal Diseases
def: "Pathological development in the ILEUM including the ILEOCECAL VALVE." [MESH:D007077]
synonym: "Ileal Disease" EXACT []
xref: MESH:D007077
xref: RDO:0005874
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:9001262
name: Deletion 13q Syndrome, Partial
synonym: "13q- syndrome, partial" EXACT []
synonym: "Chromosome 13, partial monosomy 13q" EXACT []
synonym: "Monosomy 13q, partial" EXACT []
synonym: "Partial monosomy of the long arm of chromosome 13" EXACT []
xref: MESH:C535449
xref: RDO:0000569
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9001263
name: Mitochondrial DNA Depletion Syndrome, MNGIE Type
synonym: "MEPOP" EXACT []
synonym: "mitochondrial neurogastrointestinal encephalopathy" EXACT []
synonym: "MNGIE" EXACT []
synonym: "MNGIE phenotype" EXACT []
synonym: "MNGIE syndrome" EXACT []
synonym: "myoneurogastrointestinal encephalopathy syndrome" EXACT []
synonym: "POLIP" EXACT []
synonym: "POLIP syndrome" EXACT []
synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction" EXACT []
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
created_by: mtutaj
creation_date: 2019-12-19T13:34:59Z

[Term]
id: DOID:9001264
name: Respiratory Aspiration
def: "Inhaling liquid or solids, such as stomach contents, into the RESPIRATORY TRACT. When this causes severe lung damage, it is called ASPIRATION PNEUMONIA." [MESH:D053120]
xref: EFO:1001839
xref: MESH:D053120
xref: RDO:0007607
is_a: DOID:9004611 ! Pathologic Processes
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:9001265
name: Aneurysm of Interventricular Septum
alt_id: MIM:105805
synonym: "interventricular septum aneurysm" EXACT []
xref: MESH:C563239
xref: MONDO:0007112
xref: ORDO:99092
is_a: DOID:1657 ! ventricular septal defect

[Term]
id: DOID:9001266
name: Benign Non-Infected Urachal Cyst
synonym: "Giant urachal cyst" EXACT []
synonym: "Infected urachal cyst" EXACT []
synonym: "Inflamed urachal cyst" EXACT []
xref: MESH:C531841
is_a: DOID:9008957 ! Urachal Cyst

[Term]
id: DOID:9001267
name: Junctional Epidermolysis Bullosa 3A, Intermediate
synonym: "intermediate junctional epidermolysis bullosa 3A" EXACT []
synonym: "JEB3A" EXACT []
synonym: "Junctional Epidermolysis Bullosa 3A, Generalized Intermediate" EXACT []
synonym: "Junctional Epidermolysis Bullosa 3A, Non-Herlitz Type" EXACT []
xref: MIM:619785
is_a: DOID:0060738 ! junctional epidermolysis bullosa non-Herlitz type
created_by: mtutaj
creation_date: 2022-06-07T11:10:08Z

[Term]
id: DOID:9001268
name: Embolism and Thrombosis
def: "A collective term for pathological conditions which are caused by the formation of a blood clot (THROMBUS) in a blood vessel, or by blocking of a blood vessel with an EMBOLUS, undissolved materials in the blood stream." [MESH:D016769]
xref: MESH:D016769
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:9001269
name: Double Inguinal Hernia
alt_id: MIM:142350
xref: MESH:C563164
is_a: DOID:0060320 ! inguinal hernia

[Term]
id: DOID:9001270
name: Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet
alt_id: MIM:129540
xref: MESH:C565067
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9001487 ! Facies
is_a: DOID:9005329 ! Preaxial Polydactyly
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9001271
name: Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth
alt_id: MIM:243185
synonym: "Natal teeth, intestinal pseudoobstruction and patent ductus" EXACT []
xref: MESH:C538341
is_a: DOID:0080072 ! intestinal pseudo-obstruction
is_a: DOID:13832 ! patent ductus arteriosus

[Term]
id: DOID:9001272
name: Hoyeraal Hreidarsson Syndrome
alt_id: RDO:0001490
synonym: "cerebellar hypoplasia with pancytopenia" EXACT []
synonym: "HHS" EXACT []
synonym: "prenatal growth retardation with progressive pancytopenia and cerebellar hypoplasia" EXACT []
xref: MESH:C536068
is_a: DOID:0070025 ! X-linked dyskeratosis congenita
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9002231 ! Fetal Growth Retardation

[Term]
id: DOID:9001273
name: Efavirenz, Poor Metabolism of
alt_id: RDO:0016153
synonym: "Efavirenz central nervous system toxicity, susceptibility to" EXACT []
xref: MIM:614546
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions

[Term]
id: DOID:9001274
name: Diabetes Mellitus, Congenital Autoimmune
alt_id: MIM:605026
xref: MESH:C565730
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9001275
name: Familial Atrial Fibrillation 7
alt_id: MIM:612240
synonym: "ALTERED POTASSIUM CHANNEL FUNCTION" RELATED []
synonym: "ATFB7" EXACT []
synonym: "Atrial fibrillation, familial, 7" EXACT []
synonym: "KCNA5-RELATED CONDITION" EXACT []
xref: MESH:C567389
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9001276
name: Failure to Thrive
def: "A condition of substandard growth or diminished capacity to maintain normal function." [MESH:D005183]
xref: MESH:D005183
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9001277
name: Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly
xref: MESH:C565563
is_a: DOID:13359 ! Ehlers-Danlos syndrome
is_a: DOID:9003816 ! Macrocephaly

[Term]
id: DOID:9001278
name: Hashimoto-Pritzker Syndrome
synonym: "Hashimoto-Pritzker disease" EXACT []
synonym: "Hashimoto-Pritzker histiocytosis" EXACT []
xref: MESH:C535843
is_a: DOID:225 ! syndrome
is_a: DOID:2571 ! Langerhans-cell histiocytosis

[Term]
id: DOID:9001280
name: 47, XYY Syndrome
synonym: "Jacob's syndrome" EXACT []
synonym: "XYY syndrome" EXACT []
synonym: "YY syndrome" EXACT []
xref: MESH:C535317
xref: NCI:C85237
is_a: DOID:225 ! syndrome
is_a: DOID:9000426 ! XYY Karyotype
is_a: DOID:9004151 ! Sex Chromosome Disorders

[Term]
id: DOID:9001281
name: Crush Injuries
def: "Excessive compression of parts of the body that causes muscle swelling, fracture, and/or neurological disturbances in the affected areas. Crush injury with systemic manifestations is referred to as CRUSH SYNDROME." [MESH:D000071576]
synonym: "Crush Fracture" EXACT []
synonym: "Crush Fractures" EXACT []
synonym: "Crush Injury" EXACT []
xref: EFO:0009504
xref: MESH:D000071576
xref: RDO:0016109
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9001282
name: Cerebral Cavernous Malformation 4
def: "Cerebral cavernous malformations caused by somatic mutation in the PIK3CA gene on chromosome 3q26. (OMIM)" []
synonym: "CCM4" EXACT []
synonym: "cerebral cavernous malformations 4" EXACT []
xref: MIM:619538
is_a: DOID:9001136 ! Familial Cerebral Cavernous Malformation
created_by: mtutaj
creation_date: 2021-10-15T14:16:31Z

[Term]
id: DOID:9001283
name: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT
synonym: "RDICC" EXACT []
xref: MIM:616722
xref: RDO:9000402
is_a: DOID:12270 ! coloboma
is_a: DOID:83 ! cataract
is_a: DOID:8501 ! fundus dystrophy

[Term]
id: DOID:9001284
name: Monkey Diseases
def: "Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= APE DISEASES)." [MESH:D008992]
synonym: "Monkey Disease" EXACT []
xref: MESH:D008992
is_a: DOID:9001374 ! Primate Diseases

[Term]
id: DOID:9001285
name: Alcoholic Liver Diseases
def: "Liver diseases associated with ALCOHOLISM. It usually refers to the coexistence of two or more subentities, i.e., ALCOHOLIC FATTY LIVER; ALCOHOLIC HEPATITIS; and ALCOHOLIC CIRRHOSIS." [MESH:D008108]
synonym: "alcoholic liver disease" EXACT []
xref: EFO:0008573
xref: MESH:D008108
is_a: DOID:409 ! liver disease
is_a: DOID:9004354 ! Alcohol-Related Disorders

[Term]
id: DOID:9001286
name: Congenital Contractures, Torticollis, and Malignant Hyperthermia
alt_id: MIM:217150
xref: MESH:C565679
is_a: DOID:0050840 ! cervical dystonia
is_a: DOID:8545 ! malignant hyperthermia
is_a: DOID:9001018 ! Mouth Abnormalities
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:9001287
name: Ehlers-Danlos Syndrome Type 4
synonym: "EDS4" EXACT []
synonym: "EDS IV" EXACT []
synonym: "Ehlers-Danlos syndrome, Type 4 Variant" EXACT []
synonym: "Ehlers Danlos Syndrome, Type IV" EXACT []
is_a: DOID:13359 ! Ehlers-Danlos syndrome

[Term]
id: DOID:9001288
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
alt_id: DOID:9000697
def: "This disease is characterized by global developmental delay and hypotonia apparent from birth." [MIM:619503]
synonym: "GNB2-RELATED CONDITION" BROAD []
synonym: "NEDHYDF" EXACT []
xref: MIM:619503
xref: MONDO:0859185
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2021-10-21T13:24:55Z

[Term]
id: DOID:9001289
name: Trehalase Deficiency
alt_id: MIM:612119
synonym: "ALPHA, ALPHA-TREHALASE DEFICIENCY" EXACT []
synonym: "Trehalose Intolerance" EXACT []
xref: MESH:C562603
xref: RDO:0012247
is_a: DOID:13250 ! diarrhea
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:9001290
name: Prolactin Deficiency with Obesity and Enlarged Testes
alt_id: MIM:264120
xref: MESH:C564870
is_a: DOID:9406 ! hypopituitarism
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9001291
name: Cranial Epidural Hematoma
def: "Accumulation of blood in the EPIDURAL SPACE between the SKULL and the DURA MATER, often as a result of bleeding from the MENINGEAL ARTERIES associated with a temporal or parietal bone fracture. Epidural hematoma tends to expand rapidly, compressing the dura and underlying brain. Clinical features may include HEADACHE; VOMITING; HEMIPARESIS; and impaired mental function." [MESH:D006407]
synonym: "Cranial Epidural Hematomas" EXACT []
synonym: "Cranial Epidural Hemorrhage" EXACT []
synonym: "Cranial Epidural Hemorrhages" EXACT []
synonym: "Cranial Extradural Hematoma" EXACT []
synonym: "Cranial Extradural Hematomas" EXACT []
synonym: "Cranial Extradural Hemorrhage" EXACT []
synonym: "Cranial Extradural Hemorrhages" EXACT []
synonym: "Intracranial Epidural Hematoma" EXACT []
synonym: "Intracranial Epidural Hematomas" EXACT []
xref: MESH:D006407
is_a: DOID:9003104 ! Intracranial Hemorrhages
is_a: DOID:9006013 ! Hematoma
is_a: DOID:9008598 ! Traumatic Intracranial Hemorrhage

[Term]
id: DOID:9001292
name: Odontohypophosphatasia
synonym: "low alkaline phosphatase" RELATED []
xref: MESH:C564146
is_a: DOID:14213 ! hypophosphatasia
is_a: DOID:9004003 ! Tooth Demineralization

[Term]
id: DOID:9001294
name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES
def: "This disease is a multisystemic developmental disorder characterized by feeding difficulties, poor overall growth, and global developmental delay with moderate to severely impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facial features and skeletal defects, mainly affecting the distal extremities." [MIM:620073]
synonym: "NEDDFSB" EXACT []
xref: MIM:620073
is_a: DOID:0080001 ! bone disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:936 ! brain disease
created_by: slaulede
creation_date: 2022-12-13T12:11:58Z

[Term]
id: DOID:9001295
name: Achlorhydria
def: "A lack of HYDROCHLORIC ACID in GASTRIC JUICE despite stimulation of gastric secretion." [MESH:D000126]
synonym: "Achylia Gastrica" EXACT []
synonym: "Hypochlorhydria" EXACT []
xref: MESH:D000126
is_a: DOID:76 ! stomach disease
is_a: DOID:9006795 ! Acid-Base Imbalance

[Term]
id: DOID:9001296
name: Ear Neoplasms
alt_id: RDO:0005423
def: "Tumors or cancer of any part of the hearing and equilibrium system of the body (the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR)." [MESH:D004428]
synonym: "Auricular Neoplasms" EXACT []
synonym: "Cancer of Ear" EXACT []
synonym: "Cancer of Ear Auricle" EXACT []
synonym: "Cancer of the Ear" EXACT []
synonym: "Ear Auricle Cancer" EXACT []
synonym: "Ear Auricle Cancers" EXACT []
synonym: "Ear Auricle Neoplasm" EXACT []
synonym: "Ear Auricle Neoplasms" EXACT []
synonym: "Ear Cancer" EXACT []
synonym: "Ear Neoplasm" EXACT []
synonym: "Neoplasms of Ear Auricle" EXACT []
xref: MESH:D004428
is_a: DOID:2742 ! auditory system disease
is_a: DOID:9006815 ! Otorhinolaryngologic Neoplasms

[Term]
id: DOID:9001297
name: 46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal
synonym: "Xx Male Syndrome, Sry-Negative" EXACT []
xref: MESH:C567597
is_a: DOID:14450 ! 46 XX gonadal dysgenesis

[Term]
id: DOID:9001298
name: pneumococcal bacteremia
def: "This disease is caused by the presence of pneumococcus bacteria in the blood." [EFO:1001925]
xref: EFO:1001925
is_a: DOID:9000989 ! Pneumococcal Infections
is_a: DOID:9005036 ! Bacteremia
created_by: slaulede
creation_date: 2022-10-06T13:41:27Z

[Term]
id: DOID:9001299
name: Retained Placenta
def: "A placenta that fails to be expelled after BIRTH of the FETUS. A PLACENTA is retained when the UTERUS fails to contract after the delivery of its content, or when the placenta is abnormally attached to the MYOMETRIUM." [MESH:D018457]
synonym: "Retained Placentas" EXACT []
xref: MESH:D018457
is_a: DOID:780 ! placenta disease

[Term]
id: DOID:9001300
name: Alternating Hemiplegia of Childhood 2
def: "Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi- or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment. Alternating hemiplegia of childhood-2 (AHC2) is caused by heterozygous mutation in the ATP1A3 gene on chromosome 19q13. (OMIM)" []
synonym: "AHC2" EXACT []
xref: MIM:614820
is_a: DOID:0050635 ! alternating hemiplegia of childhood

[Term]
id: DOID:9001301
name: Ketoadipicaciduria
xref: MESH:C565453
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis
is_a: DOID:9000197 ! Edema
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9001302
name: Myokymia 1
xref: MESH:C567174
xref: RDO:0015321
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9001303
name: Hydroa Vacciniforme, Familial
alt_id: MIM:603794
xref: MESH:C536077
is_a: DOID:9001317 ! Hydroa Vacciniforme

[Term]
id: DOID:9001304
name: Immunodeficiency 85
def: "An autosomal dominant immunologic disorder characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life. Caused by heterozygous mutation in the TOM1 gene on chromosome 22q12. (OMIM)" []
synonym: "IMD85" EXACT []
synonym: "immunodeficiency 85 and autoimmunity" EXACT []
xref: MIM:619510
is_a: DOID:417 ! autoimmune disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2021-09-03T12:03:10Z

[Term]
id: DOID:9001305
name: Neuroblastoma 2
synonym: "NBLST2" EXACT []
synonym: "neuroblastoma, susceptibility to, 2" RELATED []
synonym: "neuroblastoma with Hirschsprung disease" NARROW []
xref: MIM:613013
is_a: DOID:769 ! neuroblastoma
created_by: mtutaj
creation_date: 2019-10-11T11:29:38Z

[Term]
id: DOID:9001306
name: Gillessen-Kaesbach-Nishimura Dysplasia
alt_id: MIM:263210
alt_id: RDO:0013697
alt_id: RDO:9000745
synonym: "autosomal recessive polycystic kidney disease, with microbrachycephaly, hypertelorism, and brachymelia" EXACT []
synonym: "GIKANIS" EXACT []
synonym: "Gillessen-Kaesbach-Nishimura skeletal dysplasia" EXACT []
synonym: "Gillessen-Kaesbach-Nishimura syndrome" EXACT []
synonym: "polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia" EXACT []
xref: MESH:C564881
is_a: DOID:0110861 ! autosomal recessive polycystic kidney disease
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:5212 ! congenital disorder of glycosylation
is_a: DOID:9000545 ! Ectromelia
is_a: DOID:9003133 ! Hypertelorism
created_by: rgd
creation_date: 2015-06-18T00:00:00Z

[Term]
id: DOID:9001307
name: Karandikar Maria Kamble Syndrome
synonym: "Cataract mental retardation anal atresia urinary defects" EXACT []
synonym: "Congenital cataract with multiple congenital anomalies in a sibship" EXACT []
xref: MESH:C537009
is_a: DOID:10488 ! imperforate anus
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract

[Term]
id: DOID:9001308
name: Wittwer Syndrome
synonym: "X-linked mental retardation syndrome, Wittwer type" EXACT []
synonym: "X-Linked Mental Retardation Type Wittwer" EXACT []
xref: MESH:C536737
xref: MESH:C536760
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9005165 ! Deaf-Blind Disorders
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001309
name: Ichthyosis Prematurity Syndrome
alt_id: MIM:608649
alt_id: OMIA:001973
synonym: "Ichthyosis congenita IV" EXACT []
synonym: "Ichthyosis, SLC27A4-related" EXACT []
synonym: "IPS" EXACT []
xref: MESH:C536271
xref: RDO:0001786
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:9004676 ! Premature Infant Diseases

[Term]
id: DOID:9001310
name: Tobacco Use Disorder
def: "Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included." [MESH:D014029]
synonym: "Nicotine Use Disorder" EXACT []
synonym: "Nicotine Use Disorders" EXACT []
synonym: "Tobacco Dependence" EXACT []
synonym: "Tobacco Dependences" EXACT []
synonym: "Tobacco Use Disorders" EXACT []
xref: MESH:D014029
is_a: DOID:303 ! substance-related disorder

[Term]
id: DOID:9001311
name: Lichen Planus Follicularis
synonym: "Follicular lichen planus tumidus" EXACT []
synonym: "Lichen planus follicularis tumidus" EXACT []
xref: EFO:0009856
xref: MESH:C535892
xref: RDO:0001255
is_a: DOID:9201 ! lichen planus

[Term]
id: DOID:9001312
name: Tardive Dyskinesia
alt_id: MIM:272620
def: "Drug-related movement disorder characterized by uncontrollable movements in certain muscles. It is associated with a long-term exposure to certain neuroleptic medications (e.g., METOCLOPRAMIDE)." [MESH:D000071057]
synonym: "Tardive Dyskinesias" EXACT []
synonym: "Tardive Dystonia" EXACT []
synonym: "Tardive Dystonias" EXACT []
xref: MESH:D000071057
is_a: DOID:9008394 ! Drug-Induced Dyskinesia

[Term]
id: DOID:9001313
name: Gm2-Gangliosidosis, Adult Chronic Type
synonym: "Gm2-Gangliosidosis, Adult" RELATED []
synonym: "Gm2-Gangliosidosis, Adult-Onset" RELATED []
xref: MESH:C564784
is_a: DOID:3320 ! Tay-Sachs disease

[Term]
id: DOID:9001314
name: Systemic Lupus Erythematosus 17
def: "An X-linked dominant autoimmune disorder characterized by onset of systemic autoinflammatory symptoms in the first decades of life. Caused by heterozygous mutation in the TLR7 gene on chromosome Xp22." [MIM:301080]
synonym: "SLEB17" EXACT []
xref: MIM:301080
xref: MONDO:0859083
is_a: DOID:9074 ! systemic lupus erythematosus
created_by: mtutaj
creation_date: 2022-05-11T16:39:54Z

[Term]
id: DOID:9001315
name: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY
def: "This disease is characterized by hearing loss, global developmental delay/impaired intellectual development, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly." [MIM:619616]
synonym: "NEDHLS" EXACT []
synonym: "SPATA5L1-ASSOCIATED DISORDER" BROAD []
xref: MIM:619616
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9007428 ! Muscle Spasticity
created_by: slaulede
creation_date: 2022-02-10T17:53:34Z

[Term]
id: DOID:9001316
name: Bernard-Soulier Syndrome, Type C
xref: MESH:C565550
is_a: DOID:2217 ! Bernard-Soulier syndrome

[Term]
id: DOID:9001317
name: Hydroa Vacciniforme
def: "A vesicular and bullous eruption having a tendency to recur in summer during childhood and commonly appearing on sun-exposed skin. The lesions are surrounded by an erythematous zone and resemble a vaccination. (From Dorland, 27th ed)" [MESH:D006837]
xref: MESH:D006837
xref: RDO:0001503
is_a: DOID:2731 ! vesiculobullous skin disease
is_a: DOID:3159 ! photosensitivity disease

[Term]
id: DOID:9001318
name: Nasal Alar Collapse, Bilateral
alt_id: MIM:161470
xref: MESH:C563533
is_a: DOID:2825 ! nose disease

[Term]
id: DOID:9001319
name: Branchial Arch Syndrome X-Linked
alt_id: MIM:301950
synonym: "Mandibulofacial Dysostosis, Toriello Type" EXACT []
xref: MESH:C537102
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10907 ! microcephaly
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:9001320
name: Corneal Dystrophy, Fuchs Endothelial, 7
alt_id: MIM:613271
synonym: "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET" EXACT []
synonym: "FCD4 LOCUS" EXACT []
synonym: "FECD7" EXACT []
xref: MESH:C567674
is_a: DOID:11555 ! Fuchs' endothelial dystrophy

[Term]
id: DOID:9001321
name: Der Kaloustian Mcintosh Silver Syndrome
xref: MESH:C538217
xref: RDO:0004164
is_a: DOID:11971 ! synostosis
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9001322
name: Sclerocornea, Autosomal Dominant
alt_id: MIM:181700
alt_id: RDO:0014977
xref: MESH:C566692
is_a: DOID:0060252 ! sclerocornea

[Term]
id: DOID:9001323
name: Arrhenoblastoma--Thyroid Adenoma
xref: MESH:C566256
xref: RDO:0011978
is_a: DOID:13197 ! nodular goiter
is_a: DOID:2997 ! Sertoli-Leydig cell tumor

[Term]
id: DOID:9001324
name: Powell Venencie Gordon syndrome
synonym: "Keratoderma and spastic paralysis" EXACT []
synonym: "Punctate keratoderma and spastic paralysis" EXACT []
xref: MESH:C538358
is_a: DOID:225 ! syndrome
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:9007428 ! Muscle Spasticity

[Term]
id: DOID:9001325
name: Rett Syndrome, Atypical
xref: MESH:C567576
is_a: DOID:1206 ! Rett syndrome

[Term]
id: DOID:9001326
name: Nevus, Epithelioid and Spindle Cell
def: "A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" [MESH:D018332]
synonym: "Spitz Nevus" EXACT []
xref: EFO:1000925
xref: MESH:D018332
is_a: DOID:9007860 ! Spindle Cell Nevus

[Term]
id: DOID:9001328
name: Familial Gigantiform Cementoma
alt_id: MIM:137575
synonym: "familial multiple cementomas" EXACT []
synonym: "periapical cemental dysplasia" EXACT []
xref: MESH:C563017
is_a: DOID:9004594 ! Jaw Neoplasms
is_a: DOID:9004740 ! Cementoma

[Term]
id: DOID:9001329
name: Tumor Predisposition Syndrome
synonym: "TPDS" EXACT []
is_a: DOID:14566 ! disease of cellular proliferation
is_a: DOID:225 ! syndrome
is_a: DOID:9000397 ! Genetic Predisposition to Disease
created_by: mtutaj
creation_date: 2022-08-08T10:59:09Z

[Term]
id: DOID:9001330
name: Urinary Incontinence, Stress
def: "Involuntary discharge of URINE as a result of physical activities that increase abdominal pressure on the URINARY BLADDER without detrusor contraction or overdistended bladder. The subtypes are classified by the degree of leakage, descent and opening of the bladder neck and URETHRA without bladder contraction, and sphincter deficiency." [MESH:D014550]
xref: MESH:D014550
xref: RDO:0006792
is_a: DOID:9006880 ! Urinary Incontinence

[Term]
id: DOID:9001331
name: Skull Neoplasms
def: "Neoplasms of the bony part of the skull." []
synonym: "Skull Neoplasm" EXACT []
xref: MESH:D012888
is_a: DOID:9004389 ! Bone Neoplasms

[Term]
id: DOID:9001332
name: Earache
def: "Pain in the ear." [MESH:D004433]
synonym: "Earaches" EXACT []
synonym: "Otalgia" EXACT []
synonym: "Otalgias" EXACT []
xref: MESH:D004433
is_a: DOID:2742 ! auditory system disease
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9001333
name: Hypokalemic Periodic Paralysis, Type 2
alt_id: MIM:613345
synonym: "HOKPP2" EXACT []
xref: MESH:C567635
is_a: DOID:14452 ! hypokalemic periodic paralysis

[Term]
id: DOID:9001334
name: Huntington's Disease-Like 3
alt_id: MIM:604802
synonym: "HDL3" EXACT []
synonym: "Huntington Disease-Like 3" EXACT []
synonym: "Huntington Disease-Like Neurodegenerative Disorder, Autosomal Recessive" EXACT []
xref: MESH:C565747
xref: RDO:0014303
is_a: DOID:12858 ! Huntington's disease

[Term]
id: DOID:9001335
name: Chromosome 17, Trisomy 17p
synonym: "Duplication 17p" EXACT []
synonym: "Trisomy 17p" EXACT []
xref: MESH:C538048
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9001337
name: Childhood-Onset Spasticity with Hyperglycinemia
def: "An autosomal recessive disorder characterized by 'variant' nonketotic hyperglycinemia and onset of slowly progressive spasticity that results in impaired gait in the first decade of life. (OMIM)" []
synonym: "SPAHGC" EXACT []
xref: MIM:616859
is_a: DOID:4195 ! hyperglycemia
is_a: DOID:9007428 ! Muscle Spasticity
created_by: rgd
creation_date: 2016-04-14T00:00:00Z

[Term]
id: DOID:9001338
name: Vulvodynia
def: "Complex pain syndrome with unknown etiology, characterized by constant or intermittent generalized vulva pain (Generalized vulvodynia) or localized burning sensations in the VESTIBULE area when pressure is applied (Vestibulodynia, or Vulvar Vestibulitis Syndrome). Typically, vulvar tissue with vulvodynia appears normal without infection or skin disease. Vulvodynia impacts negatively on a woman's quality of life as it interferes with sexual and daily activities." [MESH:D056650]
synonym: "Generalized Vulvodynia" EXACT []
synonym: "generalized vulvodynias" EXACT []
synonym: "Vestibulodynia" EXACT []
synonym: "Vestibulodynias" EXACT []
synonym: "vulvodynias" EXACT []
xref: MESH:D056650
is_a: DOID:2059 ! vulvar disease

[Term]
id: DOID:9001340
name: Mesomelia-Synostoses Syndrome
alt_id: MIM:600383
synonym: "CHROMOSOME 8q13 DELETION SYNDROME" EXACT []
synonym: "Mesomelia synostoses" EXACT []
synonym: "MESOMELIC DYSPLASIA, SYNDROMIC" EXACT []
synonym: "MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFER TYPE" EXACT []
synonym: "Verloes-David syndrome" EXACT []
xref: MESH:C537348
xref: RDO:0003178
is_a: DOID:11971 ! synostosis
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001341
name: Chloracne
def: "ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants." [MESH:D054506]
synonym: "Chloracnes" EXACT []
synonym: "Chlorine Acne" EXACT []
synonym: "Chlorine Acnes" EXACT []
xref: EFO:1001777
xref: MESH:D054506
is_a: DOID:9001519 ! Acneiform Eruptions

[Term]
id: DOID:9001343
name: Infantile Hypotonia with Psychomotor Retardation
synonym: "IHPMR" EXACT []
xref: MIM:616816
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9001344
name: Pigmented Purpuric Eruption
alt_id: MIM:172900
synonym: "Familial pigmented purpuric eruption" EXACT []
synonym: "Familial Schamberg's disease" EXACT []
synonym: "Schamberg purpura" EXACT []
xref: MESH:C537186
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:3326 ! purpura

[Term]
id: DOID:9001345
name: Okur-Chung Neurodevelopmental Syndrome
def: "An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. (OMIM)" []
synonym: "CSNK2A1-RELATED CONDITION" EXACT []
synonym: "CSNK2A1- RELATED DISORDERS" RELATED []
synonym: "OCNDS" EXACT []
xref: MIM:617062
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:9001346
name: Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis
synonym: "Poikiloderma, Hereditary Sclerosing, with Tendon and Pulmonary Involvement" EXACT []
synonym: "POIKTMP" EXACT []
xref: MIM:615704
is_a: DOID:0080000 ! muscular disease
is_a: DOID:3770 ! pulmonary fibrosis
is_a: DOID:9005023 ! Hereditary Sclerosing Poikiloderma
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:9001347
name: Leg Ulcer
def: "Ulceration of the skin and underlying structures of the lower extremity. About 90% of the cases are due to venous insufficiency (VARICOSE ULCER), 5% to arterial disease, and the remaining 5% to other causes." [MESH:D007871]
synonym: "Leg Ulcers" EXACT []
xref: MESH:D007871
is_a: DOID:8529 ! ulcer of lower limbs

[Term]
id: DOID:9001349
name: Stomatognathic Diseases
def: "General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx." [MESH:D009057]
subset: RGD_JBrowse_slim
synonym: "dental disease" EXACT []
synonym: "dental diseases" EXACT []
synonym: "mouth and tooth diseases" EXACT []
synonym: "stomatognathic disease" EXACT []
xref: MESH:D009057
is_a: DOID:4 ! disease

[Term]
id: DOID:9001350
name: Aicardi-Goutieres Syndrome 1
synonym: "AGS1" EXACT []
synonym: "Aicardi-Goutieres Syndrome 1, Autosomal Dominant" EXACT []
xref: MIM:225750
xref: NCI:C165501
is_a: DOID:0050629 ! Aicardi-Goutieres syndrome

[Term]
id: DOID:9001351
name: Rubella Syndrome, Congenital
def: "Transplacental infection of the fetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abnormalities in the newborn infant. They include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalized growth retardation. (From Dorland, 27th ed)" [MESH:D012410]
synonym: "Congenital Rubella Syndromes" EXACT []
xref: EFO:0007218
xref: MESH:D012410
xref: RDO:0006512
is_a: DOID:8781 ! rubella
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001352
name: Periodontal Pocket
def: "An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption." [MESH:D010514]
synonym: "Periodontal Pockets" EXACT []
xref: EFO:1001393
xref: MESH:D010514
is_a: DOID:824 ! periodontitis

[Term]
id: DOID:9001353
name: Peroxisome Biogenesis Disorder, Complementation Group 11
xref: MESH:C566634
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9001354
name: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY
def: "A complex neurologic disorder characterized by impaired motor and intellectual development, hypotonia, poor overall growth, usually with short stature and microcephaly, and subtly dysmorphic facial features. Affected individuals have distal muscle weakness and muscle atrophy resulting in delayed acquisition of motor skills and persistent gait abnormalities." [MIM:619090]
synonym: "DIGFAN" EXACT []
synonym: "MORC2-RELATED NEURODEVELOPMENTAL DISORDER" BROAD []
xref: MIM:619090
is_a: DOID:7319 ! axonal neuropathy
is_a: DOID:9001487 ! Facies
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2021-02-12T11:17:36Z

[Term]
id: DOID:9001355
name: Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome
alt_id: RDO:0013944
xref: MESH:C565249
is_a: DOID:0050545 ! visceral heterotaxy
is_a: DOID:0050651 ! atrioventricular septal defect
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9001356
name: Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
alt_id: MIM:601347
xref: MESH:C563345
is_a: DOID:0050908 ! myelodysplastic syndrome
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9001358
name: Rotator Cuff Tear Arthropathy
def: "Rapidly destructive shoulder joint and bone disease found mainly in elderly, and predominantly in women. It is characterized by SHOULDER PAIN; JOINT INSTABILITY; and the presence of crystalline CALCIUM PHOSPHATES in the SYNOVIAL FLUID. It is associated with ROTATOR CUFF INJURIES." [MESH:D000070656]
synonym: "Cuff Tear Arthropathy" EXACT []
synonym: "Milwaukee Shoulder" EXACT []
synonym: "Milwaukee Shoulder Syndrome" EXACT []
xref: MESH:D000070656
is_a: DOID:1156 ! chondrocalcinosis
is_a: DOID:9005593 ! Crystal Arthropathies

[Term]
id: DOID:9001360
name: Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal
alt_id: MIM:610644
alt_id: RDO:0009447
alt_id: RDO:0014259
synonym: "PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM" NARROW []
synonym: "PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL" EXACT []
xref: MESH:C565693
is_a: DOID:0111760 ! 46,XX sex reversal
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:9001361
name: Pancreatic Fistula
def: "Abnormal passage communicating with the PANCREAS." [MESH:D010185]
synonym: "Pancreatic Fistulas" EXACT []
xref: MESH:D010185
is_a: DOID:26 ! pancreas disease
is_a: DOID:9008038 ! Digestive System Fistula

[Term]
id: DOID:9001362
name: Malignant Teratocarcinosarcoma
synonym: "Paranasal sinus teratocarcinosarcoma" EXACT []
synonym: "Paranasal sinus teratocarcinosarcoma (type)" EXACT []
synonym: "Sinonasal teratocarcinosarcoma" EXACT []
synonym: "Sinonasal teratocarcinosarcoma (type)" EXACT []
xref: MESH:C535701
xref: RDO:0000962
is_a: DOID:3307 ! teratoma
is_a: DOID:4236 ! carcinosarcoma
is_a: DOID:9007971 ! Nose Neoplasms

[Term]
id: DOID:9001363
name: Heavy Metal Poisoning, Nervous System
def: "Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries." [MESH:D020260]
synonym: "Poisoning, Heavy Metals, Nervous System" EXACT []
xref: EFO:1001815
xref: MESH:D020260
xref: RDO:0007319
is_a: DOID:3602 ! toxic encephalopathy

[Term]
id: DOID:9001364
name: Aortic Arch Syndromes
def: "Conditions resulting from abnormalities in the arteries branching from the ASCENDING AORTA, the curved portion of the aorta. These syndromes are results of occlusion or abnormal blood flow to the head-neck or arm region leading to neurological defects and weakness in an arm. These syndromes are associated with vascular malformations; ATHEROSCLEROSIS; TRAUMA; and blood clots." [MESH:D001015]
synonym: "Aortic Arch Syndrome" EXACT []
xref: MESH:D001015
is_a: DOID:225 ! syndrome
is_a: DOID:520 ! aortic disease

[Term]
id: DOID:9001365
name: Amebic Liver Abscess
def: "Single or multiple areas of PUS due to infection by any ameboid protozoa (AMEBIASIS). A common form is caused by the ingestion of ENTAMOEBA HISTOLYTICA." [MESH:D008101]
synonym: "Abscess, Amebic, Hepatic" EXACT []
synonym: "amebic liver abscesses" EXACT []
synonym: "Amoebic Hepatic Abscess" EXACT []
synonym: "Amoebic Hepatic Abscesses" EXACT []
synonym: "Amoebic Liver Abscess" EXACT []
synonym: "Amoebic Liver Abscesses" EXACT []
synonym: "Hepatic Amebiasis" EXACT []
synonym: "Hepatic Amoebiasis" EXACT []
synonym: "Hepatic Entamoebiases" EXACT []
synonym: "hepatic entamoebiasis" EXACT []
xref: MESH:D008101
is_a: DOID:9002668 ! Liver Abscess
is_a: DOID:9003155 ! Parasitic Liver Diseases
is_a: DOID:9181 ! amebiasis

[Term]
id: DOID:9001366
name: Psychomotor Agitation
def: "A feeling of restlessness associated with increased motor activity. This may occur as a manifestation of nervous system drug toxicity or other conditions." [MESH:D011595]
synonym: "Akathisia" EXACT []
synonym: "Psychomotor Excitement" EXACT []
synonym: "Psychomotor Hyperactivity" EXACT []
synonym: "Psychomotor Restlessness" EXACT []
synonym: "Restlessness" EXACT []
xref: MESH:D011595
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9001367
name: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES
synonym: "ITO-RAYMOND SYNDROME" EXACT []
synonym: "NEDALVS" EXACT []
synonym: "WASF1-RELATED CONDITION" EXACT []
synonym: "WASF1-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
xref: EFO:0010657
xref: MIM:618707
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:93 ! language disorder
created_by: slaulede
creation_date: 2022-03-22T15:38:52Z

[Term]
id: DOID:9001368
name: Uncombable Hair Syndrome 2
def: "A condition characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. (OMIM)" []
synonym: "UHS2" EXACT []
xref: MIM:617251
is_a: DOID:9005997 ! Uncombable Hair Syndrome
created_by: rgd
creation_date: 2017-07-12T00:00:00Z

[Term]
id: DOID:9001369
name: Multiple Epiphyseal Dysplasia with Robin Phenotype
alt_id: MIM:601560
xref: MESH:C563291
is_a: DOID:12721 ! multiple epiphyseal dysplasia
is_a: DOID:674 ! cleft palate
is_a: DOID:9005616 ! Micrognathism
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9001371
name: Eosinophilia
def: "Abnormal increase of EOSINOPHILS in the blood, tissues or organs." [MESH:D004802]
synonym: "Eosinophilias" EXACT []
synonym: "Tropical Eosinophilia" EXACT []
synonym: "Tropical Eosinophilias" EXACT []
xref: MESH:D004802
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9001372
name: Immunodeficiency 114
def: "An autosomal recessive immunologic disorder characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy. Caused by homozygous mutation in the SLC19A1 gene on chromosome 21q22." [MIM:620603]
synonym: "IMD114" EXACT []
synonym: "Immunodeficiency 114, folate-responsive" EXACT []
xref: MIM:620603
is_a: DOID:612 ! primary immunodeficiency disease
created_by: tutajm
creation_date: 2023-12-04T12:21:27Z

[Term]
id: DOID:9001373
name: Sonoda Syndrome
alt_id: MIM:270460
synonym: "congenital heart defect-round face-developmental delay syndrome" EXACT []
synonym: "congenital heart defect with round face and developmental delay syndrome" EXACT []
synonym: "ROUND FACE WITH DEPRESSED NASAL BRIDGE AND SMALL MOUTH, CONGENITAL HEART DEFECT, AND RETARDED DEVELOPMENT" EXACT []
xref: GARD:4905
xref: MESH:C536680
xref: MONDO:0010039
xref: ORDO:1355
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9001374
name: Primate Diseases
def: "Diseases of animals within the order PRIMATES. This term includes diseases of Haplorhini and Strepsirhini." [MESH:D018419]
synonym: "Primate Disease" EXACT []
xref: MESH:D018419
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9001376
name: Papillary Cystadenoma
def: "A benign neoplasm of the ovary." [MESH:D018292]
synonym: "Papillary Cystadenomas" EXACT []
xref: MESH:D018292
is_a: DOID:2634 ! cystadenoma

[Term]
id: DOID:9001377
name: Bridged Sella Turcica
alt_id: MIM:182200
xref: MESH:C566689
is_a: DOID:53 ! pituitary gland disease

[Term]
id: DOID:9001378
name: Nuclear Type Mitochondrial Complex I Deficiency 36
synonym: "MC1DN36" EXACT []
xref: MIM:619170
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2021-02-01T18:23:04Z

[Term]
id: DOID:9001379
name: Lissencephaly and Agenesis of Corpus Callosum
synonym: "Subcortical laminar heterotopia, X-linked" EXACT []
xref: MESH:C531731
xref: RDO:0000150
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9008500 ! Classical Lissencephalies and Subcortical Band Heterotopias

[Term]
id: DOID:9001380
name: Absent Eyebrows and Eyelashes with Mental Retardation
alt_id: MIM:200130
synonym: "Pseudoprogeria Syndrome" EXACT []
xref: MESH:C563111
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:12835 ! quadriplegia
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:9001382
name: Combined Congenital Deficiency of Intrinsic Factor and R Binder
alt_id: MIM:243320
xref: MESH:C565461
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9001383
name: Atelosteogenesis Type 1
alt_id: MIM:108720
synonym: "AO1" EXACT []
synonym: "AOI" EXACT []
synonym: "atelosteogenesis type I" EXACT []
synonym: "FLNB-related spectrum disorder" BROAD []
synonym: "giant cell chondrodysplasia" EXACT []
synonym: "spondylohumerofemoral hypoplasia" EXACT []
xref: MESH:C535396
is_a: DOID:0050648 ! atelosteogenesis

[Term]
id: DOID:9001384
name: Kaposiform Hemangioendothelioma
synonym: "Congenital cutaneous multifocal kaposiform hemangioendothelioma" EXACT []
synonym: "Kaposiform hemangio-endothelioma" EXACT []
xref: MESH:C537007
is_a: DOID:8632 ! Kaposi's sarcoma
is_a: DOID:9000293 ! Hemangioendothelioma
is_a: DOID:9007438 ! Kasabach-Merritt Syndrome

[Term]
id: DOID:9001385
name: Complement Factor D Deficiency
alt_id: MIM:613912
synonym: "CFDD" EXACT []
synonym: "CFD-RELATED CONDITION" EXACT []
synonym: "Factor D Deficiency" EXACT []
xref: MESH:C565027
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:9001386
name: Albinism
def: "General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair." [MESH:D000417]
xref: MESH:D000417
xref: NCI:C84543
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9005660 ! Hypopigmentation
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9001387
name: Rhabditida Infections
def: "Infections with nematodes of the order RHABDITIDA." [MESH:D017196]
synonym: "Rhabditida Infection" EXACT []
synonym: "Rhabditida infectious disease" EXACT []
xref: EFO:0007468
xref: MESH:D017196
is_a: DOID:9004401 ! Secernentea Infections

[Term]
id: DOID:9001388
name: CHROMOSOME 2p16.3 DELETION SYNDROME
xref: MIM:614332
xref: RDO:9001543
is_a: DOID:225 ! syndrome
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9001390
name: Testis Reperfusion Injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the testes, including swelling; hemorrhage; necrosis; and damage from free radicals." []
synonym: "Testicular Ischemia-Reperfusion Injury" EXACT []
synonym: "Testicular Reperfusion Injury" EXACT []
synonym: "Testis Ischemia-Reperfusion Injury" EXACT []
is_a: DOID:2519 ! testicular disease
is_a: DOID:9004009 ! Reperfusion Injury

[Term]
id: DOID:9001391
name: Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
def: "A highly variable phenotype characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones. Caused by heterozygous mutation in the H3F3A gene on chromosome 1q42." [MIM:619720]
synonym: "BRYLIB1" EXACT []
synonym: "H3-3A-RELATED CONDITION" BROAD []
synonym: "H3F3A-RELATED DISORDERS" BROAD []
xref: MIM:619720
is_a: DOID:9002771 ! Bryant-Li-Bhoj Neurodevelopmental Syndrome
created_by: mtutaj
creation_date: 2022-02-10T13:41:56Z

[Term]
id: DOID:9001392
name: Herpes Simplex Encephalitis 3
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5" RELATED []
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 5" RELATED []
synonym: "Herpes Simplex Encephalitis, Susceptibility To, 3" RELATED []
synonym: "IIAE5" EXACT []
synonym: "TRAF3 HAPLOINSUFFICIENCY" EXACT []
synonym: "TRAF3-RELATED CONDITION" EXACT []
xref: MIM:614849
is_a: DOID:9003870 ! Herpes Simplex Encephalitis
created_by: rgd
creation_date: 2015-06-08T00:00:00Z

[Term]
id: DOID:9001393
name: Patternless Dermal Ridges
alt_id: MIM:125540
xref: MESH:C565109
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9001395
name: Walker Dyson Syndrome
synonym: "Aniridia associated with mental retardation and other eye abnormalities" EXACT []
xref: MESH:C536568
xref: RDO:0002188
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12271 ! aniridia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9001396
name: Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis
alt_id: MIM:605756
synonym: "hypergonadotropic gonadal dysgenesis, XX type, with short stature and recurrent metabolic acidosis" EXACT []
synonym: "hypergonadotropic ovarian dysgenesis with short stature and recurrent metabolic acidosis" EXACT []
xref: MESH:C565295
is_a: DOID:14450 ! 46 XX gonadal dysgenesis
is_a: DOID:9002802 ! Acidoses
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001397
name: 5-Hydroxytryptamine Oxygenase Regulator
synonym: "HTOR" EXACT []
xref: MIM:143460
xref: RDO:0008008
is_a: DOID:14250 ! Down syndrome

[Term]
id: DOID:9001398
name: Hirschsprung Disease Polydactyly Heart Disease
xref: MESH:C538120
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:1148 ! polydactyly

[Term]
id: DOID:9001399
name: Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies
synonym: "IDDCDF" EXACT []
synonym: "TMEM94-RELATED CONDITION" EXACT []
xref: MIM:618316
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9001487 ! Facies
created_by: mtutaj
creation_date: 2019-04-16T09:21:20Z

[Term]
id: DOID:9001400
name: Aliivibrio Infections
def: "Infections with bacteria of the genus ALIIVIBRIO." [MESH:D059707]
synonym: "Aliivibrio Infection" EXACT []
xref: MESH:D059707
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9001401
name: Periventricular Nodular Heterotopia 9
def: "An autosomal dominant neurologic disorder characterized as a malformation of cortical development caused by heterozygous mutation in the MAP1B gene on chromosome 5q13. (OMIM)" []
synonym: "MAP1B-RELATED CONDITION" BROAD []
synonym: "PVNH9" EXACT []
xref: MIM:618918
is_a: DOID:0050454 ! periventricular nodular heterotopia
created_by: mtutaj
creation_date: 2020-06-30T07:52:46Z

[Term]
id: DOID:9001402
name: Acro-Osteolysis
alt_id: MIM:102400
def: "A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME." [MESH:D030981]
synonym: "acroosteolysis" EXACT []
synonym: "acro-osteolysis syndrome" EXACT []
synonym: "acroosteolysis syndrome" EXACT []
synonym: "acro-osteolysis syndromes" EXACT []
xref: MESH:D030981
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9006081 ! Osteolysis

[Term]
id: DOID:9001404
name: Aphalangia Syndactyly Microcephaly
xref: MESH:C537787
is_a: DOID:10907 ! microcephaly
is_a: DOID:11193 ! syndactyly
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001406
name: Henipavirus Infections
def: "Infections with viruses of the genus HENIPAVIRUS, family PARAMYXOVIRIDAE." [MESH:D045464]
synonym: "Henipavirus Infection" EXACT []
xref: EFO:0007300
xref: MESH:D045464
xref: RDO:0007514
is_a: DOID:9007244 ! Paramyxoviridae Infections

[Term]
id: DOID:9001407
name: Microcephaly Microphthalmos Blindness
xref: MESH:C537541
xref: RDO:0003400
is_a: DOID:10629 ! microphthalmia
is_a: DOID:10907 ! microcephaly
is_a: DOID:1432 ! blindness

[Term]
id: DOID:9001408
name: Dilated Cardiomyopathy 2J
def: "A disease characterized by onset of heart failure within the first year of life, with severely reduced left ventricular ejection fractions. Caused by homozygous or compound heterozygous mutation in the FLII gene on chromosome 17p11." [MIM:620635]
synonym: "CMD2J" EXACT []
xref: MIM:620635
is_a: DOID:12930 ! dilated cardiomyopathy
created_by: tutajm
creation_date: 2023-12-04T12:54:57Z

[Term]
id: DOID:9001409
name: Female Genital Tuberculosis
def: "MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE)." [MESH:D014384]
synonym: "Female genital tuberculoses" EXACT []
xref: EFO:1000935
xref: MESH:D014384
is_a: DOID:2149 ! urogenital tuberculosis
is_a: DOID:229 ! female reproductive system disease

[Term]
id: DOID:9001410
name: Acquired CJD
synonym: "Sporadic CJD" EXACT []
xref: MESH:C538481
is_a: DOID:11949 ! Creutzfeldt-Jakob disease
is_a: DOID:5435 ! variant Creutzfeldt-Jakob disease

[Term]
id: DOID:9001411
name: Genetic Anticipation
def: "The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)" [MESH:D020132]
xref: MESH:D020132
is_a: DOID:9000397 ! Genetic Predisposition to Disease

[Term]
id: DOID:9001412
name: Glaucoma 1, Open Angle, F
alt_id: MIM:603383
synonym: "GLC1F" EXACT []
synonym: "primary open angle glaucoma, adult-onset" BROAD []
xref: MESH:C566383
is_a: DOID:1070 ! primary open angle glaucoma

[Term]
id: DOID:9001413
name: Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness
alt_id: MIM:264140
xref: MESH:C562894
is_a: DOID:0060889 ! prune belly syndrome
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1059 ! intellectual disability
is_a: DOID:6420 ! pulmonary valve stenosis

[Term]
id: DOID:9001414
name: Neurosyphilis
def: "Infections of the central nervous system caused by TREPONEMA PALLIDUM which present with a variety of clinical syndromes. The initial phase of infection usually causes a mild or asymptomatic meningeal reaction. The meningovascular form may present acutely as BRAIN INFARCTION. The infection may also remain subclinical for several years. Late syndromes include general paresis; TABES DORSALIS; meningeal syphilis; syphilitic OPTIC ATROPHY; and spinal syphilis. General paresis is characterized by progressive DEMENTIA; DYSARTHRIA; TREMOR; MYOCLONUS; SEIZURES; and Argyll-Robertson pupils. (Adams et al., Principles of Neurology, 6th ed, pp722-8)" [MESH:D009494]
synonym: "central nervous system syphilis" EXACT []
synonym: "General Paralyses" EXACT []
synonym: "General Paralysis" EXACT []
synonym: "General Pareses" EXACT []
synonym: "General Paresis" EXACT []
synonym: "General Paresis of the Insane" EXACT []
synonym: "Gummatous Neurosyphilis" EXACT []
synonym: "Juvenile Neurosyphilis" EXACT []
synonym: "Juvenile Pareses" EXACT []
synonym: "Juvenile Paresis" EXACT []
synonym: "Neurosyphilis, Symptomatic" EXACT []
synonym: "Paretic Neurosyphilis" EXACT []
synonym: "Secondary Neurosyphilis" EXACT []
synonym: "syphilis, CNS" EXACT []
xref: MESH:D009494
is_a: DOID:4166 ! syphilis
is_a: DOID:9002742 ! Central Nervous System Bacterial Infections

[Term]
id: DOID:9001415
name: Mycobacterium Infections
def: "Infections with bacteria of the genus MYCOBACTERIUM." [MESH:D009164]
synonym: "Mycobacterial Disease" EXACT []
synonym: "Mycobacterial Disease, Mendelian Susceptibility to" RELATED []
synonym: "mycobacterium infection" EXACT []
synonym: "RECURRENT MYCOBACTERIAL INFECTIONS" NARROW []
xref: EFO:0009429
xref: MESH:D009164
is_a: DOID:9000673 ! Actinomycetales Infections

[Term]
id: DOID:9001416
name: Juvenile-Onset Scleroderma
synonym: "juvenile scleroderma" EXACT []
xref: MESH:C543759
is_a: DOID:418 ! systemic scleroderma
is_a: DOID:8472 ! localized scleroderma

[Term]
id: DOID:9001417
name: Femoral Neck Fractures
def: "Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." [MESH:D005265]
synonym: "femoral neck fracture" EXACT []
synonym: "femur neck fracture" EXACT []
synonym: "femur neck fractures" EXACT []
xref: EFO:1001792
xref: MESH:D005265
is_a: DOID:9007265 ! Hip Fractures

[Term]
id: DOID:9001418
name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES
def: "This disease is characterized by a phenotypic triad of severe developmental delay, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. The disorder affects both males and females." [MIM:301066]
synonym: "MRXSPF" EXACT []
synonym: "X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies" EXACT []
xref: MIM:301066
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
created_by: slaulede
creation_date: 2022-02-08T14:20:40Z

[Term]
id: DOID:9001419
name: Fructose and Galactose Intolerance
xref: MESH:C565558
xref: MIM:229500
xref: MONDO:0009248
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:9001420
name: Cutaneous Hemangiomatosis with Associated Features
alt_id: MIM:234800
xref: MESH:C562438
is_a: DOID:255 ! hemangioma
is_a: DOID:2712 ! phimosis
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9005077 ! Joint Instability

[Term]
id: DOID:9001421
name: Diaphragmatic Hernia, Traumatic
alt_id: RDO:0005787
def: "The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." [MESH:D006549]
synonym: "Traumatic Diaphragmatic Hernias" EXACT []
xref: EFO:1001861
xref: MESH:D006549
is_a: DOID:9001932 ! Abdominal Injuries
is_a: DOID:9009073 ! Diaphragmatic Hernia

[Term]
id: DOID:9001422
name: Radial Heads, Posterior Dislocation Of
alt_id: MIM:179200
synonym: "Congenital Posterior Dislocation of the Radial Head" EXACT []
xref: MESH:C566728
is_a: DOID:9001456 ! Bone Malalignment

[Term]
id: DOID:9001423
name: Combined Exocrine Pancreatic Insufficiency
alt_id: RDO:0013711
xref: MESH:C564907
is_a: DOID:13316 ! exocrine pancreatic insufficiency
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9001424
name: Hyperleucine-Isoleucinemia
alt_id: MIM:238340
xref: MESH:C562674
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9001425
name: Triphalangeal Thumb
xref: MESH:C573898
xref: RDO:0015779
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9001427
name: Geographic Atrophy
def: "A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates." [MESH:D057092]
synonym: "Dry Macular Degeneration" EXACT []
synonym: "Dry Macular Degenerations" EXACT []
synonym: "Geographic Atrophies" EXACT []
xref: EFO:1001492
xref: MESH:D057092
is_a: DOID:4448 ! macular degeneration

[Term]
id: DOID:9001429
name: Primary Cortisol Resistance
alt_id: RDO:0000270
xref: MESH:C535280
is_a: DOID:3946 ! pituitary-dependent Cushing's disease

[Term]
id: DOID:9001430
name: Maroteaux Fonfria Syndrome
synonym: "Apert syndrome with polydactyly of hands and feet" EXACT []
synonym: "Apparent Apert syndrome with polydactyly" EXACT []
xref: MESH:C536023
xref: RDO:0001434
is_a: DOID:1148 ! polydactyly
is_a: DOID:12960 ! acrocephalosyndactylia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9001431
name: internalizing disorder
def: "This disease is a type of mental or behavioral disorder, typically in children and young adults, with symptoms including depression, anxiety and withdrawal." [EFO:0020971]
synonym: "internalizing behavior" EXACT []
synonym: "internalizing symptoms" EXACT []
xref: EFO:0020971
is_a: DOID:150 ! disease of mental health
created_by: slaulede
creation_date: 2023-01-05T11:26:10Z

[Term]
id: DOID:9001432
name: Oculocutaneous Albinism Type VIII
synonym: "OCA8" EXACT []
xref: MIM:619165
is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism
created_by: mtutaj
creation_date: 2021-01-29T14:16:28Z

[Term]
id: DOID:9001433
name: Multiple Eruptive Milia
alt_id: MIM:157400
xref: MESH:C562823
is_a: DOID:161 ! keratosis

[Term]
id: DOID:9001434
name: Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome
def: "Characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Caused by heterozygous mutation in the TRIM8 gene on chromosome 10q24. (OMIM)" []
synonym: "FSGSNEDS" EXACT []
synonym: "TRIM8-RELATED CONDITION" EXACT []
xref: MIM:619428
is_a: DOID:1312 ! focal segmental glomerulosclerosis
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2021-08-06T16:53:38Z

[Term]
id: DOID:9001435
name: Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant
alt_id: RDO:0014213
xref: MESH:C565626
is_a: DOID:14687 ! diastrophic dysplasia

[Term]
id: DOID:9001436
name: Immunodeficiency 68
alt_id: MIM:612260
def: "An autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. (OMIM)" []
synonym: "MYD88D" EXACT []
synonym: "MYD88 deficiency" EXACT []
synonym: "Recurrent Pyogenic Bacterial Infections Due To MYD88 Deficiency" EXACT []
xref: MESH:C567379
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9001437
name: Aplasia or Hypoplasia of Breasts and/or Nipples 2
synonym: "aplasia or hypoplasia of the breasts and/or nipples-2" EXACT []
synonym: "BNAH2" EXACT []
xref: MIM:616001
is_a: DOID:9000865 ! Amastia

[Term]
id: DOID:9001438
name: Pseudoatrophoderma Colli
alt_id: MIM:177350
xref: MESH:C562909
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9001440
name: Oculopharyngeal Myopathy with Leukoencephalopathy 1
synonym: "OPML1" EXACT []
xref: MIM:618637
is_a: DOID:423 ! myopathy
is_a: DOID:9002704 ! Leukoencephalopathies
created_by: mtutaj
creation_date: 2020-11-23T12:37:17Z

[Term]
id: DOID:9001441
name: Adenomatous Polyps
def: "Benign neoplasms derived from glandular epithelium. (From Stedman, 25th ed)" [MESH:D018256]
synonym: "Adenomatous Polyp" EXACT []
xref: MESH:D018256
is_a: DOID:657 ! adenoma
is_a: DOID:9003896 ! Polyps

[Term]
id: DOID:9001442
name: Ho Kaufman Mcalister Syndrome
xref: MESH:C538325
is_a: DOID:0080001 ! bone disease
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9005560 ! Congenital Hip Dislocation
is_a: DOID:9005616 ! Micrognathism
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007828 ! Abnormalities, Drug-Induced

[Term]
id: DOID:9001443
name: Hypercapnia
def: "A clinical manifestation of abnormal increase in the amount of carbon dioxide in arterial blood." [MESH:D006935]
xref: MESH:D006935
is_a: DOID:9000575 ! Respiratory Signs and Symptoms

[Term]
id: DOID:9001444
name: Moyamoya Disease 5
synonym: "MYMY5" EXACT []
xref: MIM:614042
is_a: DOID:13099 ! Moyamoya disease

[Term]
id: DOID:9001445
name: Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
synonym: "CPRF" EXACT []
synonym: "neurodevelopmental and congenital anomalies" BROAD []
xref: MIM:616728
is_a: DOID:674 ! cleft palate
is_a: DOID:9001487 ! Facies
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9001446
name: Mesial Movement of Teeth
def: "Migration of the teeth toward the midline or forward in the DENTAL ARCH. (From Boucher's Clinical Dental Terminology, 4th ed)" [MESH:D008644]
synonym: "Mesial Drift of Teeth" EXACT []
synonym: "Mesial Migration of Teeth" EXACT []
synonym: "Teeth Mesial Drift" EXACT []
synonym: "Teeth Mesial Migration" EXACT []
synonym: "Teeth Mesial Movement" EXACT []
xref: MESH:D008644
xref: RDO:0006118
is_a: DOID:9004828 ! Tooth Migration

[Term]
id: DOID:9001447
name: Spondyloepimetaphyseal Dysplasia with Hypotrichosis
alt_id: MIM:183849
synonym: "Whyte Petersen McAlister syndrome" EXACT []
synonym: "Whyte syndrome" EXACT []
xref: MESH:C535783
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:9001448
name: Familial Thrombomodulin Anomalies
xref: MESH:C536900
is_a: DOID:2452 ! thrombophilia

[Term]
id: DOID:9001449
name: Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction
def: "This disease is an autosomal recessive disorder characterized by shallow breathing and apneic spells apparent in the neonatal period. Affected infants require mechanical ventilation due to impaired ventilatory response to hypercapnia, as well as tube feeding due to poor swallowing, aspiration, and gastrointestinal dysmotility." [MIM:619482]
synonym: "CCHS2" EXACT []
xref: MIM:619482
is_a: DOID:0060731 ! congenital central hypoventilation syndrome
created_by: slaulede
creation_date: 2021-10-15T13:30:54Z

[Term]
id: DOID:9001450
name: Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy
alt_id: MIM:239840
xref: MESH:C565492
is_a: DOID:2477 ! motor peripheral neuropathy
is_a: DOID:420 ! hypertrichosis

[Term]
id: DOID:9001451
name: Acrodysostosis 1, with or without Hormone Resistance
synonym: "ACRDYS1" EXACT []
synonym: "ADOHR" EXACT []
xref: MIM:101800
is_a: DOID:14669 ! acrodysostosis

[Term]
id: DOID:9001452
name: Chromosome 8, Monosomy 8p
synonym: "Deletion 8p" EXACT []
synonym: "Monosomy 8p" EXACT []
xref: MESH:C537825
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9001454
name: Partial Trisomy 3q Syndrome
synonym: "Chromosome 3, Distal 3q2 Trisomy" EXACT []
synonym: "Chromosome 3, Trisomy 3q2" EXACT []
synonym: "Partial Duplication 3q Syndrome" EXACT []
xref: MESH:C537635
xref: RDO:0003511
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9001455
name: Intestinal Helminthiasis
xref: MESH:C531698
xref: RDO:0000118
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:9002892 ! Parasitic Intestinal Diseases

[Term]
id: DOID:9001456
name: Bone Malalignment
def: "Displacement of bones out of line in relation to joints. It may be congenital or traumatic in origin." [MESH:D017760]
synonym: "Bone Malalignments" EXACT []
synonym: "Bone Malposition" EXACT []
synonym: "Bone Malpositions" EXACT []
synonym: "Bone Misalignment" EXACT []
synonym: "Bone Misalignments" EXACT []
xref: MESH:D017760
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:9001457
name: Dyssegmental Dysplasia, Rolland-Desbuquois Type
alt_id: MIM:224400
synonym: "Anisospondylic camptomicromelic dwarfism, Rolland-Desbuquois type" EXACT []
synonym: "Dyssegmental dwarfism, Rolland-Desbuquois type" EXACT []
xref: MESH:C537999
is_a: DOID:0050463 ! campomelic dysplasia
is_a: DOID:4480 ! achondroplasia
is_a: DOID:674 ! cleft palate

[Term]
id: DOID:9001458
name: Hypophosphatemic Rickets
def: "A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism." [MESH:D063730]
synonym: "Acquired Vitamin D Resistant Rickets" EXACT []
synonym: "Hypocalcemic Vitamin D Resistant Rickets" EXACT []
synonym: "Hypophosphatemia, Vitamin D-Resistant Rickets" EXACT []
synonym: "Hypophosphatemic Ricket" EXACT []
synonym: "Hypophosphatemic Vitamin D Resistant Rickets" EXACT []
synonym: "Vitamin D-Resistant Rickets" EXACT []
xref: MESH:D063730
is_a: DOID:0050336 ! hypophosphatemia
is_a: DOID:10609 ! rickets

[Term]
id: DOID:9001459
name: Mental Retardation Associated with Psoriasis
alt_id: MIM:309480
synonym: "Mental Retardation and Psoriasis" EXACT []
xref: MESH:C564107
is_a: DOID:1059 ! intellectual disability
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:9001460
name: 22q11 Deletion Syndrome
def: "Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome." [MESH:D058165]
synonym: "22q11 Deletion Syndromes" EXACT []
xref: MESH:D058165
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:11199 ! hypoparathyroidism
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9002213 ! Lymphatic Abnormalities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9001461
name: Autonomic Dysreflexia
def: "A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" [MESH:D020211]
synonym: "Autonomic Dysreflexias" EXACT []
synonym: "Autonomic Hyperreflexia" EXACT []
synonym: "Autonomic Hyperreflexias" EXACT []
synonym: "Spinal Autonomic Dysreflexia" EXACT []
synonym: "Spinal Autonomic Dysreflexias" EXACT []
xref: EFO:1001762
xref: MESH:D020211
is_a: DOID:11465 ! autonomic nervous system disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000039 ! Spinal Cord Injuries

[Term]
id: DOID:9001462
name: Meibomian Gland Dysfunction
def: "A chronic dysfunction of MEIBOMIAN GLANDS characterized by altered tear film stability and function due to a decrease or alteration in lipid quality/content in meibum. It is often associated with evaporative-type DRY EYE SYNDROME. (MESH)" []
synonym: "MGD" EXACT []
synonym: "MG dysfunction" EXACT []
synonym: "posterior blepharitis" EXACT []
xref: MESH:D000080343
is_a: DOID:9423 ! blepharitis

[Term]
id: DOID:9001463
name: Shaheen Syndrome
synonym: "COG6-RELATED CONDITION" BROAD []
synonym: "SHNS" EXACT []
xref: MIM:615328
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9001464
name: Weill-Marchesani Syndrome 2
alt_id: MIM:608328
synonym: "GEMMS" EXACT []
synonym: "GEMSS Syndrome" EXACT []
synonym: "Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature syndrome" EXACT []
synonym: "Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome" EXACT []
synonym: "Weill Marchesani syndrome, autosomal dominant" EXACT []
synonym: "WMS2" EXACT []
xref: MESH:C537679
is_a: DOID:0050475 ! Weill-Marchesani syndrome
is_a: DOID:1686 ! glaucoma
is_a: DOID:381 ! arthropathy
is_a: DOID:9004201 ! Ectopia Lentis
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001465
name: chronic venous hypertension
def: "Chronic venous insufficiency is a result of venous hypertension which is secondary to venous valvular reflux in deep or superficial veins." [EFO:0010675]
xref: EFO:0010675
relationship: part_of DOID:0050853 ! chronic venous insufficiency
created_by: slaulede
creation_date: 2022-12-05T15:29:53Z

[Term]
id: DOID:9001466
name: Hirschsprung Disease Ganglioneuroblastoma
synonym: "Neuroblastoma with Hirschsprung disease" EXACT []
xref: MESH:C538119
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:4163 ! ganglioneuroblastoma

[Term]
id: DOID:9001467
name: Livedo Reticularis
def: "A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." [MESH:D054068]
xref: EFO:1001804
xref: MESH:D054068
xref: RDO:0007650
is_a: DOID:341 ! peripheral vascular disease
is_a: DOID:9007472 ! Skin Manifestations
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:9001468
name: Neglected Diseases
def: "Diseases that are underfunded and have low name recognition but are major burdens in less developed countries. The World Health Organization has designated six tropical infectious diseases as being neglected in industrialized countries that are endemic in many developing countries (HELMINTHIASIS; LEPROSY; LYMPHATIC FILARIASIS; ONCHOCERCIASIS; SCHISTOSOMIASIS; and TRACHOMA)." [MESH:D058069]
synonym: "Neglected Disease" EXACT []
xref: MESH:D058069
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9001469
name: Acrogeria, Gottron Type
alt_id: MIM:201200
synonym: "Acrometageria" EXACT []
synonym: "Metageria" EXACT []
xref: MESH:C538187
is_a: DOID:3911 ! progeria

[Term]
id: DOID:9001470
name: Ciguatera Poisoning
def: "Poisoning caused by ingestion of SEAFOOD containing microgram levels of CIGUATOXINS. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." [MESH:D036841]
synonym: "Ciguatera" EXACT []
synonym: "Ciguatera Fish Poisoning" EXACT []
synonym: "Ciguatera Fish Poisonings" EXACT []
synonym: "Ciguatera Poisonings" EXACT []
xref: EFO:1001291
xref: MESH:D036841
is_a: DOID:9006436 ! Foodborne Diseases

[Term]
id: DOID:9001471
name: Anorectal Malformations
alt_id: MIM:107100
def: "Congenital defects in the anus and the rectum often involving the urinary and genital tracts." [MESH:D000071056]
synonym: "anorectal anomalies" EXACT []
synonym: "anorectal anomaly" EXACT []
synonym: "anorectal atresia" EXACT []
synonym: "anorectal atresias" EXACT []
synonym: "anorectal malformation" EXACT []
synonym: "anorectal stenoses" EXACT []
synonym: "anorectal stenosis" EXACT []
xref: MESH:D000071056
xref: MONDO:0019938
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:9001472
name: Nasal Polyps
def: "Focal accumulations of EDEMA fluid in the NASAL MUCOSA accompanied by HYPERPLASIA of the associated submucosal connective tissue. Polyps may be NEOPLASMS, foci of INFLAMMATION, degenerative lesions, or malformations." [MESH:D009298]
synonym: "Nasal Polyp" EXACT []
synonym: "Nasal Polyposis" EXACT []
xref: EFO:1000391
xref: MESH:D009298
xref: RDO:0001584
is_a: DOID:2825 ! nose disease
is_a: DOID:9003896 ! Polyps

[Term]
id: DOID:9001473
name: Severe Chronic Neutropenia
synonym: "benign familial leukopenia" EXACT []
synonym: "chronic familial neutropenia" EXACT []
xref: MESH:C535815
is_a: DOID:1227 ! neutropenia

[Term]
id: DOID:9001474
name: Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements
def: "An autosomal recessive severe neurologic disorder characterized by delayed psychomotor development with inability to walk or speak, early-onset refractory seizures, and nonepileptic hyperkinetic movement disorders, including myoclonus dystonia and dyskinesias. Patients require tube feeding." [MIM:618497]
synonym: "CACNA1B-RELATED CONDITION" EXACT []
synonym: "NEDNEH" EXACT []
xref: EFO:0010276
xref: MIM:618497
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2019-09-16T12:55:55Z

[Term]
id: DOID:9001475
name: Gastrocutaneous Syndrome
alt_id: MIM:137270
synonym: "peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia" EXACT []
xref: MESH:C535651
is_a: DOID:11830 ! myopia
is_a: DOID:225 ! syndrome
is_a: DOID:750 ! peptic ulcer disease
is_a: DOID:9002453 ! Cafe-au-Lait Spots
is_a: DOID:9003133 ! Hypertelorism

[Term]
id: DOID:9001476
name: Yuan-Harel-Lupski Syndrome
def: "A complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. Caused by a contiguous gene duplication of chromosome 17p12-p11.2, including the PMP22 and RAI1 genes." [MIM:616652]
synonym: "YUHAL" EXACT []
xref: MIM:616652
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2023-02-27T15:13:48Z

[Term]
id: DOID:9001477
name: Khalifa Graham Syndrome
alt_id: MIM:600159
synonym: "pterygium colli and mental retardation with facial and digital anomalies" EXACT []
synonym: "pterygium colli, mental retardation, digital anomalies" EXACT []
xref: MESH:C535831
is_a: DOID:0002116 ! pterygium
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001478
name: Giant Mammary Hamartoma
synonym: "Giant hamartoma of the breast" EXACT []
xref: MESH:C536818
xref: RDO:0002510
is_a: DOID:9007253 ! Hamartoma

[Term]
id: DOID:9001479
name: Cerebral Toxoplasmosis
def: "Infections of the BRAIN caused by the protozoan TOXOPLASMA gondii that primarily arise in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES (see also AIDS-RELATED OPPORTUNISTIC INFECTIONS). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include SEIZURES, altered mentation, headache, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)" [MESH:D016781]
synonym: "Central Nervous System Toxoplasmosis" EXACT []
synonym: "Cerebral Toxoplasmoses" EXACT []
synonym: "Intracranial Toxoplasmosis" EXACT []
synonym: "Neurotoxoplasmosis" EXACT []
xref: EFO:0007200
xref: MESH:D016781
is_a: DOID:9002216 ! Central Nervous System Protozoal Infections
is_a: DOID:9008595 ! Brain Abscess
is_a: DOID:9965 ! toxoplasmosis

[Term]
id: DOID:9001480
name: Muscle Rigidity
def: "Continuous involuntary sustained muscle contraction which is often a manifestation of BASAL GANGLIA DISEASES. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from MUSCLE SPASTICITY. (From Adams et al., Principles of Neurology, 6th ed, p73)" [MESH:D009127]
synonym: "Catatonic Rigidity" EXACT []
synonym: "Cogwheel Rigidities" EXACT []
synonym: "Cogwheel Rigidity" EXACT []
synonym: "Extensor Rigidity" EXACT []
synonym: "Extrapyramidal Rigidity" EXACT []
synonym: "Gegenhalten" EXACT []
synonym: "Gegenhaltens" EXACT []
synonym: "Muscular Rigidity" EXACT []
synonym: "Nuchal Rigidity" EXACT []
xref: MESH:D009127
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9008941 ! Muscle Hypertonia

[Term]
id: DOID:9001481
name: Charcot-Marie-Tooth Disease Axonal Type 2FF
def: "An autosomal dominant progressive axonal sensorimotor peripheral neuropathy characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs. Caused by heterozygous mutation in the CADM3 gene on chromosome 1q21. (OMIM)" []
synonym: "Charcot-Marie-Tooth disease type 2FF" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy type 2FF" EXACT []
synonym: "CMT2FF" EXACT []
xref: MIM:619519
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
created_by: mtutaj
creation_date: 2021-09-20T10:10:05Z

[Term]
id: DOID:9001482
name: Inhalation Burns
def: "Burns of the respiratory tract caused by heat or inhaled chemicals." [MESH:D002059]
synonym: "Inhalation Burn" EXACT []
xref: MESH:D002059
is_a: DOID:9007730 ! Burns

[Term]
id: DOID:9001483
name: Distal Arthrogryposis Type 2B4
synonym: "DA2B4" EXACT []
is_a: DOID:0111599 ! distal arthrogryposis type 2B
created_by: slaulede
creation_date: 2019-06-26T12:00:12Z

[Term]
id: DOID:9001484
name: Chromosome 13 Ring
xref: MESH:C538303
xref: RDO:0004265
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9001485
name: Sacral Agenesis Syndrome
synonym: "hereditary sacral agenesis with presacral mass, anterior meningocele, and-or teratoma, and anorectal malformation" EXACT []
xref: MESH:C566762
is_a: DOID:1088 ! meningocele
is_a: DOID:225 ! syndrome
is_a: DOID:3307 ! teratoma

[Term]
id: DOID:9001486
name: Radio-Renal Syndrome
xref: MESH:C536267
xref: MIM:179280
xref: MONDO:0008359
xref: ORDO:3015
is_a: DOID:1934 ! dysostosis
is_a: DOID:225 ! syndrome
is_a: DOID:557 ! kidney disease
is_a: DOID:9004402 ! Congenital Upper Extremity Deformities

[Term]
id: DOID:9001487
name: Facies
def: "The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)" [MESH:D019066]
synonym: "facial dysmorphism" EXACT []
xref: MESH:D019066
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9001488
name: Human Influenza
alt_id: MIM:614680
def: "An acute viral infection in humans involving the respiratory tract. It is marked by inflammation of the NASAL MUCOSA; the PHARYNX; and conjunctiva, and by headache and severe, often generalized, myalgia." [MESH:D007251]
synonym: "Human Flu" EXACT []
synonym: "Human Influenzas" EXACT []
synonym: "Influenza in Human" EXACT []
synonym: "Influenza in Humans" EXACT []
synonym: "INFLUENZA, SEVERE, SUSCEPTIBILITY TO" EXACT []
xref: EFO:0001669
xref: EFO:0007328
xref: MESH:D007251
is_a: DOID:8469 ! influenza
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:9001489
name: Rudiger Syndrome
alt_id: MIM:268650
xref: MESH:C562912
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001490
name: Fallot Complex with Severe Mental and Growth Retardation
alt_id: MIM:601127
synonym: "Bindewald Ulmer Muller syndrome" EXACT []
xref: MESH:C536608
is_a: DOID:1059 ! intellectual disability
is_a: DOID:6419 ! tetralogy of Fallot
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001491
name: Sarcoma 37
def: "An experimental sarcoma of mice." [MESH:D012511]
xref: MESH:D012511
is_a: DOID:9005474 ! Experimental Sarcoma

[Term]
id: DOID:9001492
name: Lowry Maclean syndrome
alt_id: MIM:600252
synonym: "mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis, and growth failure" EXACT []
xref: MESH:C537037
is_a: DOID:10480 ! diaphragmatic eventration
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12347 ! osteogenesis imperfecta
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:1686 ! glaucoma
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:674 ! cleft palate
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001493
name: Alpha-Fetoprotein Deficiency
alt_id: MIM:615969
synonym: "AFPD" EXACT []
xref: MESH:C566300
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9001495
name: Cataract, Lamellar 2
xref: MESH:C566481
xref: RDO:0014823
is_a: DOID:83 ! cataract

[Term]
id: DOID:9001496
name: Sanderson Fraser Syndrome
synonym: "Proptosis, Robin association, clenched hands, and multiple abnormalities" EXACT []
xref: MESH:C537232
is_a: DOID:225 ! syndrome
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:9001497
name: Tay-Sachs Disease, Juvenile
xref: MESH:C564782
is_a: DOID:3320 ! Tay-Sachs disease

[Term]
id: DOID:9001498
name: DNA Degradation, Necrotic
def: "The random catabolism of DNA accompaning the irreversible damage to tissue which leads to the pathological death of one or more cells." [MESH:D053836]
xref: MESH:D053836
xref: RDO:0007640
is_a: DOID:9005749 ! Necrosis

[Term]
id: DOID:9001499
name: Orthomyxoviridae Infections
def: "Virus diseases caused by the ORTHOMYXOVIRIDAE." [MESH:D009976]
synonym: "Orthomyxoviridae Infection" EXACT []
synonym: "Orthomyxoviridae infectious disease" EXACT []
synonym: "Orthomyxovirus Infection" EXACT []
synonym: "Orthomyxovirus Infections" EXACT []
xref: EFO:0007411
xref: MESH:D009976
xref: RDO:0005628
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:9001500
name: Sd(a) POLYAGGLUTINATION SYNDROME
def: "This condition is a result of a patient with low Sid antigen (Sd(a+) strength being transfused with blood of high Sid antigen strength (Sd(a++). Most people have weak anti-Sd(a) antibodies in their serum, which is usually of no clinical importance, but red cell agglutination and a transfusion reaction can occur if the donor blood has cells showing strong Sd(a++) expression." [MIM:615018]
synonym: "BLOOD GROUP, SID SYSTEM" RELATED []
synonym: "Sd(a-) PHENOTYPE" EXACT []
synonym: "SDPS" EXACT []
xref: MIM:615018
is_a: DOID:225 ! syndrome
is_a: DOID:9001837 ! Transfusion Reaction
is_a: DOID:9005170 ! polyagglutination
created_by: slaulede
creation_date: 2022-02-03T10:46:31Z

[Term]
id: DOID:9001501
name: Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
synonym: "Carnitine Palmitoyltransferase II Deficiency, Antenatal" EXACT []
synonym: "Carnitine Palmitoyltransferase II Deficiency, Neonatal" EXACT []
synonym: "CPT2 Deficiency, Lethal Neonatal" EXACT []
synonym: "CPT II Deficiency, Lethal Neonatal" EXACT []
xref: MESH:C563463
xref: MIM:608836
xref: MONDO:0012136
is_a: DOID:0060235 ! carnitine palmitoyltransferase II deficiency
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9001502
name: Congenital Microtia
alt_id: RDO:0015947
def: "Malformation of external portion of EAR AURICLE." [MESH:D065817]
synonym: "Anotia" EXACT []
synonym: "Anotias" EXACT []
synonym: "Congenital Microtias" EXACT []
synonym: "microtia" EXACT []
synonym: "microtias" EXACT []
xref: MESH:D065817
xref: NCI:C180842
is_a: DOID:2742 ! auditory system disease
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9001503
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION
def: "This disease is a severe autosomal recessive disorder characterized by neonatal respiratory distress, poor feeding, and impaired global development. Affected individuals are unable to walk or speak and have poor or absent eye contact." [MIM:618797]
synonym: "NEDHRIT" EXACT []
xref: MIM:618797
is_a: DOID:11161 ! neonatal respiratory failure
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2022-02-11T15:48:00Z

[Term]
id: DOID:9001504
name: Transient Erythroblastopenia of Childhood
alt_id: MIM:227050
synonym: "Erythroblastopenia, transient" EXACT []
synonym: "Familial transient erythroblastopenia of childhood" EXACT []
synonym: "TEC" EXACT []
xref: MESH:C536980
xref: RDO:0002718
is_a: DOID:589 ! congenital hemolytic anemia

[Term]
id: DOID:9001505
name: Anal Fissure
def: "A painful linear ulcer at the margin of the anus. It appears as a crack or slit in the mucous membrane of the anus and is very painful and difficult to heal. (Dorland, 27th ed & Stedman, 25th ed)" [MESH:D005401]
synonym: "anal ulcer" EXACT []
synonym: "anal ulcers" EXACT []
synonym: "fissure in ano" EXACT []
synonym: "nontraumatic tear of anus" EXACT []
synonym: "solitary anal ulcer" EXACT []
synonym: "ulcer of anus" EXACT []
xref: MESH:D005401
is_a: DOID:3128 ! anus disease

[Term]
id: DOID:9001506
name: Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas
alt_id: MIM:603643
xref: MESH:C536666
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:758 ! situs inversus

[Term]
id: DOID:9001508
name: Nairobi Sheep Disease
def: "An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis." [MESH:D009265]
xref: MESH:D009265
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9004137 ! Bunyaviridae Infections
is_a: DOID:9006097 ! Sheep Diseases

[Term]
id: DOID:9001509
name: Deltaretrovirus Infections
def: "Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." [MESH:D006800]
synonym: "BLV Infection" EXACT []
synonym: "BLV Infections" EXACT []
synonym: "Deltaretrovirus Infection" EXACT []
synonym: "HTLV-BLV Infection" EXACT []
synonym: "HTLV BLV Infections" EXACT []
synonym: "HTLV Infection" EXACT []
synonym: "HTLV Infections" EXACT []
xref: EFO:1001303
xref: MESH:D006800
xref: RDO:0005817
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9006644 ! Retroviridae Infections

[Term]
id: DOID:9001510
name: Funnel Chest
alt_id: MIM:169300
def: "A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax." [MESH:D005660]
synonym: "funnel chests" EXACT []
synonym: "pectus excavatum" EXACT []
xref: MESH:D005660
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9001511
name: Pili Torti
alt_id: MIM:261900
synonym: "Twisted Hair" EXACT []
xref: MESH:C562485
is_a: DOID:421 ! hair disease

[Term]
id: DOID:9001512
name: Familial Amyloid Polyneuropathies
alt_id: DOID:8943
def: "Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN." []
synonym: "Amyloid Neuropathy Type 1" EXACT []
synonym: "Appalachian Type Familial Amyloid Polyneuropathy" EXACT []
synonym: "British Type Amyloid Polyneuropathy" EXACT []
synonym: "familial amyloid neuropathies" EXACT []
synonym: "Familial Amyloid Neuropathy" NARROW []
synonym: "Familial Amyloid Neuropathy, Andrade Type" EXACT []
synonym: "Familial Amyloid Polyneuropathies" EXACT []
synonym: "Familial Amyloid Polyneuropathy" EXACT []
synonym: "Familial Portuguese Polyneuritic Amyloidosis" EXACT []
synonym: "Hereditary Neuropathic Amyloidoses" EXACT []
synonym: "Hereditary Neuropathic Amyloidosis" EXACT []
synonym: "Iowa Type Amyloid Polyneuropathy" EXACT []
synonym: "Jewish Type Familial Amyloid Polyneuropathy" EXACT []
synonym: "Neuropathic Amyloid Syndrome" EXACT []
synonym: "Neuropathic Amyloid Syndromes" EXACT []
synonym: "Portuguese Polyneuritic Amyloidoses" EXACT []
synonym: "Portuguese Polyneuritic Amyloidosis" EXACT []
synonym: "Portuguese Type Familial Amyloid Neuropathy" EXACT []
synonym: "Swiss Type Amyloid Polyneuropathy" EXACT []
synonym: "Type I Familial Amyloid Polyneuropathy" EXACT []
synonym: "Type II Familial Amyloid Polyneuropathy" EXACT []
synonym: "Type III Familial Amyloid Polyneuropathy" EXACT []
synonym: "Type V Familial Amyloid Polyneuropathy" EXACT []
synonym: "Type VI Familial Amyloid Polyneuropathy" EXACT []
synonym: "Wohlwill Andrade Syndrome" EXACT []
synonym: "Wohlwill Corino Andrade syndrome" EXACT []
xref: MESH:D028227
xref: NCI:C84554
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9004492 ! Familial Amyloidosis
is_a: DOID:9006478 ! Amyloid Neuropathies

[Term]
id: DOID:9001513
name: Asthenozoospermia
def: "A condition in which the percentage of motile sperm is abnormally low." [MESH:D053627]
synonym: "Astheno Teratozoospermia" EXACT []
synonym: "Asthenoteratozoospermia" EXACT []
synonym: "Astheno Teratozoospermias" EXACT []
synonym: "Asthenoteratozoospermias" EXACT []
xref: MESH:D053627
is_a: DOID:12336 ! male infertility

[Term]
id: DOID:9001514
name: Hypophosphatemic Rickets, Autosomal Recessive, 1
alt_id: MIM:241520
synonym: "ARHP" EXACT []
synonym: "ARHR" EXACT []
synonym: "ARHR1" EXACT []
synonym: "Hypophosphatemia, Autosomal Recessive" EXACT []
xref: MESH:C562792
is_a: DOID:0050949 ! autosomal recessive hypophosphatemic rickets

[Term]
id: DOID:9001515
name: Angioma Serpiginosum, Autosomal Dominant
alt_id: MIM:106050
alt_id: RDO:0001926
xref: MESH:C536365
is_a: DOID:4028 ! angioma serpiginosum

[Term]
id: DOID:9001516
name: Familial Thoracic Aortic Aneurysm 6
alt_id: MIM:611788
synonym: "AAT6" EXACT []
synonym: "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi" EXACT []
xref: MESH:C567085
is_a: DOID:14004 ! thoracic aortic aneurysm
is_a: DOID:9001467 ! Livedo Reticularis

[Term]
id: DOID:9001517
name: Kapur Toriello Syndrome
alt_id: MIM:244300
synonym: "Cleft lip palate, facial, eye, heart and intestinal anomalies" EXACT []
synonym: "Long columella with cleft lip-palate and eye, heart, and intestinal anomalies" EXACT []
xref: MESH:C537008
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9001518
name: Dibasic Amino Aciduria I
alt_id: MIM:222690
xref: MESH:C567132
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9001519
name: Acneiform Eruptions
def: "Visible efflorescent lesions of the skin caused by acne or resembling acne. (Dorland, 28th ed, p18, 575)" [MESH:D017486]
synonym: "Acneiform Eruption" EXACT []
xref: MESH:D017486
xref: RDO:0004710
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9001520
name: Symmetric Acroleukopathy
alt_id: MIM:102000
xref: MESH:C566322
xref: MONDO:0007049
is_a: DOID:10123 ! pigmentation disease

[Term]
id: DOID:9001521
name: Subdural Hematoma
def: "Accumulation of blood in the SUBDURAL SPACE between the DURA MATER and the arachnoidal layer of the MENINGES. This condition primarily occurs over the surface of a CEREBRAL HEMISPHERE, but may develop in the spinal canal (HEMATOMA, SUBDURAL, SPINAL). Subdural hematoma can be classified as the acute or the chronic form, with immediate or delayed symptom onset, respectively. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status." [MESH:D006408]
synonym: "subdural hematomas" EXACT []
synonym: "Subdural Hemorrhage" EXACT []
synonym: "Subdural Hemorrhages" EXACT []
synonym: "Traumatic Subdural Hematoma" EXACT []
synonym: "traumatic subdural hematomas" EXACT []
xref: MESH:D006408
is_a: DOID:9003104 ! Intracranial Hemorrhages
is_a: DOID:9006013 ! Hematoma
is_a: DOID:9008598 ! Traumatic Intracranial Hemorrhage

[Term]
id: DOID:9001522
name: Symptom Flare Up
def: "A transient exacerbation of symptoms of an existing disease or condition." [MESH:D000067251]
synonym: "Acute Symptom Flare" EXACT []
synonym: "Acute Symptom Flares" EXACT []
synonym: "Symptom Flareup" EXACT []
synonym: "Symptom Flare-ups" EXACT []
synonym: "Symptom Flareups" EXACT []
synonym: "Symptom Flaring Up" EXACT []
synonym: "Symptom Flaring Ups" EXACT []
xref: MESH:D000067251
is_a: DOID:9002801 ! Recurrence

[Term]
id: DOID:9001523
name: Familial Multiple Coagulation Factor Deficiency IV
alt_id: MIM:134430
synonym: "Factor VII and Factor VIII, Combined Deficiency" EXACT []
synonym: "FMFD IV" EXACT []
synonym: "MCFD4" EXACT []
synonym: "Multiple Coagulation Factor Deficiency IV" EXACT []
xref: MESH:C565025
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:9001524
name: Kyphomelic Dysplasia
alt_id: MIM:211350
synonym: "congenital bowing with short bones" EXACT []
xref: MESH:C538128
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001525
name: Congenital Heart Defects, Multiple Types, 7
synonym: "CHTD7" EXACT []
xref: MIM:618780
is_a: DOID:6419 ! tetralogy of Fallot
is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types
created_by: mtutaj
creation_date: 2020-02-18T12:39:58Z

[Term]
id: DOID:9001526
name: X-Linked Scapuloperoneal Muscular Dystrophy
alt_id: MIM:300695
synonym: "Scapuloperoneal Myopathy, FHL1-Related" EXACT []
synonym: "SPM" EXACT []
synonym: "X-Linked Dominant Scapuloperoneal Myopathy" EXACT []
synonym: "X-linked scapuloperoneal syndrome" EXACT []
synonym: "X-linked SPMD" EXACT []
xref: GARD:7608
xref: MESH:C567481
xref: MONDO:0010400
xref: ORDO:431272
is_a: DOID:0060253 ! scapuloperoneal myopathy

[Term]
id: DOID:9001527
name: Congenital Hypomyelinating Neuropathy
xref: MIM:PS605253
is_a: DOID:440 ! neuromuscular disease
created_by: mtutaj
creation_date: 2020-10-09T10:52:51Z

[Term]
id: DOID:9001528
name: ARTERIAL DISSECTION
synonym: "cervical artery dissection" NARROW []
synonym: "PREDISPOSITION TO DISSECTION" RELATED []
xref: EFO:1000059
xref: NCI:C99704
xref: RDO:9005210
is_a: DOID:0050828 ! artery disease
created_by: rgd
creation_date: 2017-12-11T00:00:00Z

[Term]
id: DOID:9001529
name: Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance
alt_id: MIM:612947
xref: MESH:C567849
is_a: DOID:10907 ! microcephaly
is_a: DOID:83 ! cataract
is_a: DOID:9001487 ! Facies
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9001530
name: Succinyl-CoA:3-oxoacid CoA transferase deficiency
alt_id: MIM:245050
synonym: "3-oxoacid CoA transferase deficiency" EXACT []
synonym: "Ketoacidosis due to SCOT deficiency" EXACT []
synonym: "SCOTD" EXACT []
synonym: "SCOT deficiency" EXACT []
synonym: "Succinyl-Coa 3-Oxoacid Transferase Deficiency" EXACT []
synonym: "Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency" EXACT []
synonym: "succinyl-CoA:acetoacetate transferase deficiency" EXACT []
xref: MESH:C537527
is_a: DOID:9002802 ! Acidoses

[Term]
id: DOID:9001532
name: Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma
alt_id: MIM:107550
xref: MESH:C566271
is_a: DOID:12270 ! coloboma
is_a: DOID:13934 ! facial paralysis

[Term]
id: DOID:9001533
name: Flatulence
def: "Production or presence of gas in the gastrointestinal tract which may be expelled through the anus." [MESH:D005414]
synonym: "Flatus" EXACT []
xref: EFO:0009669
xref: MESH:D005414
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:9001534
name: Congenital Amputation
xref: MESH:C565682
xref: MONDO:0022817
is_a: DOID:9005644 ! Amniotic Band Syndrome

[Term]
id: DOID:9001535
name: Cytophagaceae Infections
def: "Infections with bacteria of the family CYTOPHAGACEAE." [MESH:D045827]
synonym: "Cytophagaceae Infection" EXACT []
synonym: "Flexibacteraceae Infection" EXACT []
synonym: "Flexibacteraceae Infections" EXACT []
xref: MESH:D045827
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9001536
name: Pseudo-TORCH Syndrome 2
def: "An autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway." [MIM:617397]
synonym: "PTORCH2" EXACT []
xref: MIM:617397
is_a: DOID:2914 ! immune system disease
is_a: DOID:409 ! liver disease
is_a: DOID:9002061 ! Pseudo-TORCH Syndrome
created_by: rgd
creation_date: 2017-06-21T00:00:00Z

[Term]
id: DOID:9001537
name: Presumed Ocular Histoplasmosis Syndrome
def: "A triad of symptoms including discrete atrophic choroidal scars in the macula or midperiphery known as histo spots, peripapillary atrophy, and choroidal neovascularization.  The presumed association with histoplasmosis is mostly due to overlapping epidemiology." []
synonym: "POHS" EXACT []
xref: RDO:9000076
is_a: DOID:1417 ! choroid disease
is_a: DOID:1731 ! histoplasmosis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9001538
name: Lethal Congenital Contracture Syndrome 9
alt_id: RDO:9001629
synonym: "LCCS9" EXACT []
xref: MIM:616503
is_a: DOID:0060558 ! lethal congenital contracture syndrome

[Term]
id: DOID:9001539
name: Stickler Syndrome, Type IV
alt_id: MIM:614134
synonym: "COL9A1-RELATED CONDITION" BROAD []
synonym: "COL9A1-RELATED DISORDER" BROAD []
synonym: "Stickler Syndrome, Autosomal Recessive, COL9A1-Related" NARROW []
synonym: "STICKLER SYNDROME, RECESSIVE" EXACT []
synonym: "STICKLER SYNDROME, TYPE 4" EXACT []
synonym: "STL4" EXACT []
xref: MESH:C565177
is_a: DOID:0080046 ! Stickler syndrome

[Term]
id: DOID:9001540
name: Snijders Blok-Campeau Syndrome
def: "Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition. Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The severity of the neurologic deficits and presence of nonneurologic features is variable. SNIBCPS is caused by heterozygous mutation in the CHD3 gene on chromosome 17p13. (OMIM)" []
synonym: "CHD3-RELATED DISORDER" EXACT []
synonym: "IDDMSF" EXACT []
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SPEECH DELAY, AND DYSMORPHIC FACIES" EXACT []
synonym: "SNIBCPS" EXACT []
xref: EFO:0010643
xref: MIM:618205
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9005466 ! Language Development Disorders
created_by: gthayman
creation_date: 2019-03-28T16:02:03Z

[Term]
id: DOID:9001541
name: Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2
def: "An autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. (OMIM)" []
synonym: "PEBEL2" EXACT []
xref: MIM:618321
is_a: DOID:9006901 ! Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy
created_by: mtutaj
creation_date: 2019-02-13T00:00:00Z

[Term]
id: DOID:9001542
name: Albuminuria
def: "The presence of albumin in the urine, an indicator of KIDNEY DISEASES." [MESH:D000419]
synonym: "Albuminurias" EXACT []
xref: EFO:0004285
xref: MESH:D000419
is_a: DOID:576 ! proteinuria

[Term]
id: DOID:9001543
name: Combined Oxidative Phosphorylation Deficiency 58
def: "An autosomal recessive disorder characterized by a wide range of clinical presentations including neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with nonspecific changes on brain MRI, or mitochondrial myopathy with a treatable neuromuscular transmission defect. Caused by homozygous or compound heterozygous mutation in the TEFM gene on chromosome 17q11." [MIM:620451]
synonym: "COXPD58" EXACT []
xref: MIM:620451
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: mtutaj
creation_date: 2023-07-28T11:37:59Z

[Term]
id: DOID:9001545
name: Flood Factor Deficiency
alt_id: MIM:136150
xref: MESH:C565009
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:9001546
name: Moyamoya Disease 3
alt_id: MIM:608796
synonym: "MYMY3" EXACT []
xref: MESH:C536993
is_a: DOID:13099 ! Moyamoya disease

[Term]
id: DOID:9001547
name: Tibial Fractures
def: "Fractures of the TIBIA." [MESH:D013978]
synonym: "Segond Fracture" EXACT []
synonym: "Tibial Fracture" EXACT []
synonym: "Tillaux Fracture" EXACT []
synonym: "Toddler's Fracture" EXACT []
synonym: "Toddler Fracture" EXACT []
synonym: "Toddlers Fracture" EXACT []
xref: EFO:0003944
xref: MESH:D013978
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9008911 ! Leg Injuries

[Term]
id: DOID:9001548
name: Pseudohypoaldosteronism, Type IID
alt_id: RDO:9000658
synonym: "FAMILIAL HYPERKALEMIC HYPERTENSION" EXACT []
synonym: "FHHT" EXACT []
synonym: "KLHL3-RELATED CONDITION" EXACT []
synonym: "PHA2D" EXACT []
xref: MIM:614495
is_a: DOID:4479 ! pseudohypoaldosteronism

[Term]
id: DOID:9001549
name: Aniridia 3
synonym: "AN3" EXACT []
xref: MIM:617142
is_a: DOID:12271 ! aniridia
created_by: rgd
creation_date: 2017-02-14T00:00:00Z

[Term]
id: DOID:9001550
name: Bethlem Myopathy 1A
synonym: "Bethlem myopathy 1" BROAD []
synonym: "Bethlem myopathy 1, autosomal recessive" NARROW []
synonym: "BTHLM1" BROAD []
synonym: "BTHLM1A" EXACT []
synonym: "COL6A1-RELATED CONDITION" BROAD []
synonym: "COL6A1-related disorder" BROAD []
xref: MIM:158810
xref: MONDO:0024530
xref: NCI:C126688
is_a: DOID:0050663 ! Bethlem myopathy
created_by: mtutaj
creation_date: 2019-03-27T00:00:00Z

[Term]
id: DOID:9001551
name: Atrial Ectopic Tachycardia
def: "Abnormally rapid heartbeats originating from one or more automatic foci (nonsinus pacemakers) in the HEART ATRIUM but away from the SINOATRIAL NODE. Unlike the reentry mechanism, automatic tachycardia speeds up and slows down gradually. The episode is characterized by a HEART RATE between 135 to less than 200 beats per minute and lasting 30 seconds or longer." [MESH:D013612]
synonym: "Atrial Ectopic Tachycardias" EXACT []
xref: MESH:D013612
is_a: DOID:9003484 ! Atrial Tachycardia

[Term]
id: DOID:9001552
name: Acanthamoeba Keratitis
def: "Infection of the cornea by an ameboid protozoan which may cause corneal ulceration leading to blindness." [MESH:D015823]
synonym: "Acanthamoeba Keratitides" EXACT []
xref: EFO:0007126
xref: MESH:D015823
is_a: DOID:4677 ! keratitis
is_a: DOID:9004432 ! Parasitic Eye Infections
is_a: DOID:9181 ! amebiasis

[Term]
id: DOID:9001553
name: Spinal Cord Compression
def: "Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence." [MESH:D013117]
synonym: "Compressive Myelopathy" EXACT []
synonym: "Conus Medullaris Syndrome" EXACT []
synonym: "Conus Medullaris Syndromes" EXACT []
synonym: "Extramedullary Spinal Cord Compression" EXACT []
synonym: "Spinal Cord Compressions" EXACT []
xref: EFO:1001845
xref: MESH:D013117
is_a: DOID:9000039 ! Spinal Cord Injuries

[Term]
id: DOID:9001555
name: Postaxial Polydactyly, Type A3
alt_id: MIM:607324
alt_id: RDO:0013497
synonym: "PAPA3" EXACT []
xref: MESH:C564590
is_a: DOID:9003071 ! Postaxial Polydactyly

[Term]
id: DOID:9001556
name: Neonatal Inflammatory Skin and Bowel Disease 1
synonym: "ADAM17-RELATED CONDITION" EXACT []
synonym: "NISBD1" EXACT []
xref: MIM:614328
is_a: DOID:820 ! myocarditis
is_a: DOID:9008088 ! Neonatal Inflammatory Skin and Bowel Disease

[Term]
id: DOID:9001557
name: Chromosome 21 Monosomy
synonym: "Monosomy 21" EXACT []
xref: MESH:C537108
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9001559
name: Aphakic Bullous Keratopathy
def: "A blister-like swelling of the cornea in an aphakic eye, that is an eye without a lens." []
synonym: "ABK" EXACT []
synonym: "Aphakic corneal edema" EXACT []
is_a: DOID:11031 ! bullous keratopathy

[Term]
id: DOID:9001560
name: Somatic Sebaceous Tumors
alt_id: MIM:153245
xref: MESH:C563610
is_a: DOID:5759 ! sebaceous gland neoplasm

[Term]
id: DOID:9001561
name: Pseudovaginal Perineoscrotal Hypospadias
alt_id: MIM:264600
synonym: "3-OXO-5 ALPHA-STEROID DELTA 4-DEHYDROGENASE DEFICIENCY" EXACT []
synonym: "5-Alpha Reductase Deficiency" EXACT []
synonym: "Familial Incomplete Male Pseudohermaphroditism, Type 2" EXACT []
synonym: "FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2 MICROPENIS" NARROW []
synonym: "Male Pseudohermaphroditism due to 5-Alpha-Reductase Deficiency" EXACT []
synonym: "PPSH" EXACT []
synonym: "Steroid 5-Alpha-Reductase Deficiency" EXACT []
xref: MESH:C535830
xref: RDO:0001155
is_a: DOID:10892 ! hypospadias
is_a: DOID:1701 ! steroid inherited metabolic disorder
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development

[Term]
id: DOID:9001562
name: Ring Chromosome 4 Syndrome
synonym: "Ring 4, Chromosome" EXACT []
xref: MESH:C537636
xref: RDO:0003512
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9001563
name: Monocyte Chemotactic Disorder
alt_id: MIM:252250
xref: MESH:C565371
is_a: DOID:2914 ! immune system disease

[Term]
id: DOID:9001564
name: Vibrio Infections
def: "Infections with bacteria of the genus VIBRIO." [MESH:D014735]
synonym: "Vibrio Infection" EXACT []
synonym: "Vibrio infectious disease" EXACT []
xref: EFO:1001235
xref: MESH:D014735
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9001565
name: Unilateral Adactylia
alt_id: MIM:102650
synonym: "Unilateral Terminal Transverse Defects of Hand" EXACT []
xref: MESH:C562417
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9001566
name: Atrophia Maculosa Varioliformis Cutis, Familial
alt_id: MIM:601341
synonym: "AMVC" EXACT []
synonym: "Varioliform Macular Atrophy of the Skin" EXACT []
xref: MESH:C563349
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9001567
name: Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency
alt_id: RDO:0014036
xref: MESH:C565387
is_a: DOID:9000454 ! Methylmalonyl-CoA Epimerase Deficiency

[Term]
id: DOID:9001568
name: Familial Antiphospholipid Syndrome
alt_id: MIM:107320
synonym: "Lupus anticoagulant, familial" EXACT []
xref: MESH:C531622
is_a: DOID:225 ! syndrome
is_a: DOID:2988 ! antiphospholipid syndrome

[Term]
id: DOID:9001570
name: Epidermodysplasia Verruciformis 4
synonym: "epidermodysplasia verruciformis, susceptibility to, 4" EXACT []
synonym: "EV4" EXACT []
xref: MIM:618307
is_a: DOID:13777 ! epidermodysplasia verruciformis
created_by: mtutaj
creation_date: 2019-02-13T00:00:00Z

[Term]
id: DOID:9001571
name: Tooth Mobility
def: "Horizontal and, to a lesser degree, axial movement of a tooth in response to normal forces, as in occlusion. It refers also to the movability of a tooth resulting from loss of all or a portion of its attachment and supportive apparatus, as seen in periodontitis, occlusal trauma, and periodontosis. (From Jablonski, Dictionary of Dentistry, 1992, p507 & Boucher's Clinical Dental Terminology, 4th ed, p313)" [MESH:D014086]
synonym: "Tooth Mobilities" EXACT []
xref: MESH:D014086
is_a: DOID:3388 ! periodontal disease

[Term]
id: DOID:9001572
name: Hairy Palms and Soles
alt_id: MIM:139650
synonym: "Circumscribed hairy dysembryoplasia of palms" EXACT []
synonym: "Hairy cutaneous malformations of palms and soles" EXACT []
synonym: "Thickened hair-bearing skin on the palms of both hands" EXACT []
xref: MESH:C535620
is_a: DOID:421 ! hair disease
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9001573
name: Experimental Liver Cirrhosis
alt_id: RDO:0006022
def: "Experimentally induced chronic injuries to the parenchymal cells in the liver to achieve a model for LIVER CIRRHOSIS." [MESH:D008106]
synonym: "Experimental Hepatic Cirrhosis" EXACT []
synonym: "Experimental Hepatic Fibrosis" EXACT []
synonym: "Experimental Liver Cirrhoses" EXACT []
xref: MESH:D008106
is_a: DOID:5082 ! liver cirrhosis

[Term]
id: DOID:9001574
name: Crystalline Aculeiform Cataract
alt_id: RDO:0014601
synonym: "aculeiform cataract" EXACT []
xref: MESH:C566162
is_a: DOID:0110234 ! cataract 4 multiple types

[Term]
id: DOID:9001575
name: IRIS COLOBOMA
def: "This is an eye disease characterized by missing pieces of tissue in structures that form the iris." [DOID:12270]
xref: HP:0000612
xref: MP:0010714
is_a: DOID:12270 ! coloboma
created_by: slaulede
creation_date: 2022-12-12T12:03:37Z

[Term]
id: DOID:9001576
name: CARDIAC VALVULAR DYSPLASIA 2
def: "This disease is characterized primarily by congenital stenosis and insufficiency of the semilunar valves." [MIM:620067]
synonym: "CVDP2" EXACT []
xref: MIM:620067
is_a: DOID:9007172 ! Cardiac Valvular Dysplasia
created_by: slaulede
creation_date: 2022-12-05T11:57:47Z

[Term]
id: DOID:9001577
name: Infantile Hypertrophic Pyloric Stenosis 2
alt_id: MIM:610260
synonym: "IHPS2" EXACT []
xref: MESH:C565208
is_a: DOID:12638 ! hypertrophic pyloric stenosis

[Term]
id: DOID:9001578
name: Alcohol Induced Encephalopathy
synonym: "Korsakoff's amnesic syndrome" EXACT []
synonym: "Transketolase defect" EXACT []
xref: MESH:C538669
is_a: DOID:9008602 ! Alcohol Amnestic Disorder

[Term]
id: DOID:9001579
name: Neurogenic Inflammation
def: "Inflammation caused by an injurious stimulus of peripheral neurons and resulting in release of neuropeptides which affect vascular permeability and help initiate proinflammatory and immune reactions at the site of injury." [MESH:D020078]
synonym: "Neurogenic Inflammations" EXACT []
xref: MESH:D020078
is_a: DOID:9003814 ! Neurologic Manifestations
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:9001580
name: Cyclic Vomiting Syndrome
alt_id: MIM:500007
synonym: "cyclical vomiting" EXACT []
synonym: "cyclical vomiting syndrome" EXACT []
synonym: "familial cyclic vomiting syndrome" EXACT []
synonym: "periodic vomiting" EXACT []
xref: MESH:C536228
is_a: DOID:225 ! syndrome
is_a: DOID:9008385 ! Vomiting

[Term]
id: DOID:9001581
name: Constipation
alt_id: DOID:2089
def: "A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces." []
comment: DO: reviewed 10/2022 & determined to be a symptom
synonym: "Colonic Inertia" EXACT []
synonym: "Dyschezia" EXACT []
xref: ICD10CM:K59.0
xref: ICD9CM:564.0
xref: MESH:D003248
xref: NCI:C37930
is_a: DOID:9003977 ! Digestive Signs and Symptoms
is_a: DOID:9779 ! bowel dysfunction
created_by: mtutaj
creation_date: 2022-11-01T12:19:25Z

[Term]
id: DOID:9001582
name: Bohring Syndrome
alt_id: MIM:605039
synonym: "ASXL1-RELATED CONDITION" BROAD []
synonym: "Bohring-Opitz syndrome" EXACT []
synonym: "BOPS" EXACT []
synonym: "C-like syndrome" EXACT []
synonym: "Opitz trigonocephaly-like syndrome" EXACT []
xref: MESH:C537419
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:9001583
name: Melanosis
def: "Disorders of increased melanin pigmentation that develop without preceding inflammatory disease." [MESH:D008548]
synonym: "Chloasma" EXACT []
synonym: "Chloasmas" EXACT []
synonym: "Freckle" EXACT []
synonym: "Freckles" EXACT []
synonym: "Melanism" EXACT []
synonym: "Melanoses" EXACT []
synonym: "Melasma" EXACT []
synonym: "Melasmas" EXACT []
xref: EFO:0003963
xref: MESH:D008548
is_a: DOID:9003984 ! Hyperpigmentation

[Term]
id: DOID:9001584
name: Cerebral Sarcoma
alt_id: MIM:117600
synonym: "Familial cerebral sarcomas" EXACT []
xref: MESH:C537946
is_a: DOID:2132 ! brain sarcoma

[Term]
id: DOID:9001585
name: Intraventricular Hemorrhage
def: "Bleeding into the ventricular system of the brain." []
synonym: "intraventricular bleeding" EXACT []
synonym: "IVH" EXACT []
synonym: "ventricular hemorrhage" EXACT []
xref: RDO:9001270
is_a: DOID:9002676 ! Cerebral Hemorrhage
created_by: rgd
creation_date: 2016-10-18T00:00:00Z

[Term]
id: DOID:9001586
name: Experimental Liver Neoplasms
def: "Experimentally induced tumors of the LIVER." [MESH:D008114]
synonym: "experimental hepatoma" EXACT []
synonym: "Experimental Hepatomas" EXACT []
synonym: "Experimental Liver Neoplasm" EXACT []
synonym: "Morris Hepatoma" EXACT []
synonym: "Novikoff hepatoma" EXACT []
xref: MESH:D008114
is_a: DOID:9002170 ! Experimental Neoplasms
is_a: DOID:9007188 ! Liver Neoplasms

[Term]
id: DOID:9001587
name: Bone Marrow Failure Syndrome 1
synonym: "BMFF" EXACT []
synonym: "BMFS1" EXACT []
synonym: "BONE MARROW FAILURE, FAMILIAL" EXACT []
synonym: "SRP72-RELATED CONDITION" EXACT []
xref: MIM:614675
is_a: DOID:0050908 ! myelodysplastic syndrome
is_a: DOID:12449 ! aplastic anemia
is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes

[Term]
id: DOID:9001588
name: Electric Injuries
def: "Injuries caused by electric currents. The concept excludes electric burns (BURNS, ELECTRIC), but includes accidental electrocution and electric shock." [MESH:D004556]
synonym: "Accidental Electrocution" EXACT []
synonym: "Accidental Electrocutions" EXACT []
synonym: "Electric Injury" EXACT []
xref: MESH:D004556
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9001589
name: Feingold Syndrome 2
synonym: "brachydactyly with short stature and microcephaly" EXACT []
synonym: "FGLDS2" EXACT []
xref: MIM:614326
is_a: DOID:0060464 ! Feingold syndrome

[Term]
id: DOID:9001591
name: Ciliary Motility Disorders
def: "Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." [MESH:D002925]
synonym: "ciliary dyskinesia" EXACT []
synonym: "ciliary dyskinesias" EXACT []
synonym: "ciliary motility disorder" EXACT []
synonym: "ICS" EXACT []
synonym: "immotile cilia syndrome" EXACT []
synonym: "immotile cilia syndromes" EXACT []
xref: MESH:D002925
is_a: DOID:0060340 ! ciliopathy
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:9007241 ! Otorhinolaryngologic Diseases

[Term]
id: DOID:9001592
name: Pathological Protein Aggregation
def: "A biochemical phenomenon in which misfolded proteins aggregate either intra- or extracellularly. Triggered by factors such as MUTATION, POST-TRANSLATIONAL MODIFICATIONS, and environmental stress, it is generally associated with ALZHEIMER'S DISEASE; PARKINSON'S DISEASE; HUNTINGTON'S DISEASE; and TYPE 2 DIABETES MELLITUS." [MESH:D066263]
xref: MESH:D066263
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9001593
name: Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis
xref: OMIA:001683
is_a: DOID:12895 ! keratoconjunctivitis sicca
created_by: rgd
creation_date: 2017-03-14T00:00:00Z

[Term]
id: DOID:9001594
name: Paucibacillary Leprosy
def: "A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy." [MESH:D056005]
synonym: "Borderline Tuberculoid" EXACT []
synonym: "Borderline Tuberculoids" EXACT []
synonym: "Indeterminate Tuberculoid" EXACT []
synonym: "Indeterminate Tuberculoids" EXACT []
synonym: "Paucibacillary Leprosies" EXACT []
xref: EFO:1001358
xref: MESH:D056005
is_a: DOID:1024 ! leprosy

[Term]
id: DOID:9001595
name: Lethal Congenital Contracture Syndrome 6
alt_id: RDO:9001626
synonym: "LCCS6" EXACT []
xref: MIM:616248
is_a: DOID:0060558 ! lethal congenital contracture syndrome

[Term]
id: DOID:9001596
name: Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development
synonym: "ACCIID" EXACT []
synonym: "PPP3CA-RELATED CONDITION" BROAD []
xref: MIM:618265
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:674 ! cleft palate
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2019-02-13T12:22:20Z

[Term]
id: DOID:9001598
name: Odontoma
def: "A mixed tumor of odontogenic origin, in which both the epithelial and mesenchymal cells exhibit complete differentiation, resulting in the formation of tooth structures. (Jablonski, Illustrated Dictionary of Dentistry, 1982)" [MESH:D009810]
synonym: "Ameloblastic Fibro-odontoma" EXACT []
synonym: "Ameloblastic Fibro-odontomas" EXACT []
synonym: "Compound Odontoma" EXACT []
synonym: "Compound Odontomas" EXACT []
synonym: "Fibro Odontoma" EXACT []
synonym: "Fibroodontoma" EXACT []
synonym: "Fibro-Odontomas" EXACT []
synonym: "Fibroodontomas" EXACT []
synonym: "Odontomas" EXACT []
xref: MESH:D009810
is_a: DOID:9006134 ! Odontogenic Tumors

[Term]
id: DOID:9001599
name: Oocyte/Zygote/Embryo Maturation Arrest 6
def: "Oocyte maturation defect-6 (OOMD6) is characterized by primary infertility due to defective sperm-binding to an abnormally thin zona pellucida in patient oocytes. Successful pregnancy may be achieved by intracytoplasmic sperm injection in these patients. OOMD6 is caused by homozygous mutation in the ZP2 gene on chromosome 16p12. (OMIM)" []
synonym: "Oocyte Maturation Defect 6" EXACT []
synonym: "OOMD6" EXACT []
synonym: "OZEMA6" EXACT []
xref: MIM:618353
is_a: DOID:9007456 ! Female Infertility
created_by: gthayman
creation_date: 2019-03-12T11:52:33Z

[Term]
id: DOID:9001600
name: Wounds and Injuries
def: "Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." [MESH:D014947]
subset: RGD_JBrowse_slim
synonym: "Injuries" EXACT []
synonym: "Injuries, Wounds" EXACT []
synonym: "Injury" EXACT []
synonym: "Injury and Wounds" EXACT []
synonym: "nose injury" NARROW []
synonym: "Research Related Injuries" EXACT []
synonym: "Research-Related Injury" EXACT []
synonym: "Trauma" EXACT []
synonym: "Traumas" EXACT []
synonym: "Wound" EXACT []
synonym: "Wounds" EXACT []
synonym: "Wounds, Injury" EXACT []
xref: EFO:0000546
xref: EFO:0009623
xref: MESH:D014947
is_a: DOID:4 ! disease

[Term]
id: DOID:9001602
name: Pulmonary Adenomatosis
def: "A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)" [MESH:D018255]
synonym: "Pulmonary Adenomatoses" EXACT []
xref: EFO:1001258
xref: MESH:D018255
is_a: DOID:5386 ! lung adenoma

[Term]
id: DOID:9001603
name: Hypertriglyceridemia, Transient Infantile
synonym: "GPD1-RELATED CONDITION" EXACT []
synonym: "HTGTI" EXACT []
xref: MIM:614480
xref: MONDO:0013771
xref: ORDO:300293
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9006599 ! Hypertriglyceridemia

[Term]
id: DOID:9001604
name: Sexual Infantilism
def: "The permanent lack of SEXUAL DEVELOPMENT in an individual. This defect is usually observed at an age after expected PUBERTY." [MESH:D050035]
synonym: "Genital Infantilism" EXACT []
xref: MESH:D050035
xref: RDO:0007565
is_a: DOID:14447 ! gonadal dysgenesis
is_a: DOID:1924 ! hypogonadism

[Term]
id: DOID:9001605
name: Postaxial Polydactyly, Type A2
alt_id: MIM:602085
alt_id: RDO:0014900
synonym: "Papa2" EXACT []
xref: MESH:C566585
is_a: DOID:9003071 ! Postaxial Polydactyly

[Term]
id: DOID:9001606
name: Acute Anterior Uveitis
def: "Having a sudden onset, sharp rise, and short course of anterior uveitis." []
synonym: "AAU" EXACT []
is_a: DOID:1407 ! anterior uveitis
is_a: DOID:9005171 ! Acute Uveitis

[Term]
id: DOID:9001607
name: Hypopharyngeal Neoplasms
def: "Tumors or cancer of the HYPOPHARYNX." [MESH:D007012]
synonym: "hypopharyngeal neoplasm" EXACT []
synonym: "hypopharyngeal tumor" EXACT []
synonym: "hypopharynx neoplasm" EXACT []
xref: MESH:D007012
xref: NCI:C3127
is_a: DOID:9002346 ! Pharyngeal Neoplasms

[Term]
id: DOID:9001609
name: Myopathy due to Malate-Aspartate Shuttle Defect
alt_id: MIM:254960
xref: MESH:C564973
is_a: DOID:423 ! myopathy
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9001610
name: Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome
synonym: "LICS" EXACT []
synonym: "lung disease, immunodeficiency, and chromosome breakage syndrome" EXACT []
xref: MIM:617241
is_a: DOID:225 ! syndrome
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:850 ! lung disease
is_a: DOID:9000310 ! Lung Injury
is_a: DOID:9004203 ! Chromosome Breakage
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders

[Term]
id: DOID:9001611
name: Urogenital Abnormalities
alt_id: MESH:C564424
alt_id: MIM:305690
def: "Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female." [MESH:D014564]
synonym: "Genitourinary Abnormalities" EXACT []
synonym: "Genitourinary Abnormality" EXACT []
synonym: "genitourinary tract anomalies" EXACT []
synonym: "INHERITED GENITOURINARY TRACT ANOMALIES" EXACT []
synonym: "urogenital abnormality" EXACT []
xref: MESH:D014564
is_a: DOID:9005835 ! Congenital Abnormalities
is_a: DOID:9009146 ! Urogenital Diseases

[Term]
id: DOID:9001614
name: Chronic Tubulointerstitial Nephropathy
alt_id: MIM:551200
synonym: "tubulointerstitial nephropathy" EXACT []
xref: MESH:C564016
is_a: DOID:1063 ! interstitial nephritis

[Term]
id: DOID:9001615
name: Maxillary Sinus Neoplasms
def: "Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." [MESH:D008444]
synonym: "maxillary sinus neoplasm" EXACT []
synonym: "neoplasm of maxillary sinus" EXACT []
synonym: "tumor of maxillofacial sinus" EXACT []
xref: EFO:1001035
xref: MESH:D008444
xref: NCI:C3219
is_a: DOID:9000118 ! Paranasal Sinus Neoplasms
created_by: mtutaj
creation_date: 2020-04-21T07:56:39Z

[Term]
id: DOID:9001616
name: Port-Wine Stain
def: "A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema. In the past, port wine stains have frequently been termed capillary hemangiomas, which they are not; unfortunately this confusing practice persists: HEMANGIOMA, CAPILLARY is neoplastic, a port-wine stain is non-neoplastic. Port-wine stains vary in color from fairly pale pink to deep red or purple and in size from a few millimeters to many centimeters in diameter. The face is the most frequently affected site and they are most often unilateral. (From Rook et al., Textbook of Dermatology, 5th ed, p483)" [MESH:D019339]
synonym: "Nevus Flammeus" EXACT []
synonym: "Port-Wine Stains" EXACT []
xref: MESH:D019339
xref: RDO:0001132
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9001617
name: Congenital Nephrotic Syndrome with or without Ocular Abnormalities
alt_id: RDO:0012970
xref: MESH:C563805
is_a: DOID:2590 ! familial nephrotic syndrome
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9001619
name: Congenital Deafness with Total Albinism
alt_id: MIM:220900
xref: MESH:C565646
is_a: DOID:0050632 ! oculocutaneous albinism
is_a: DOID:10003 ! sensorineural hearing loss

[Term]
id: DOID:9001620
name: Leukoaraiosis
def: "Non-specific white matter changes in the BRAIN, often seen after age 65. Changes include loss of AXONS; MYELIN pallor, GLIOSIS, loss of ependymal cells, and enlarged perivascular spaces. Leukoaraiosis is a risk factor for DEMENTIA and CEREBROVASCULAR DISORDERS." [MESH:D049292]
synonym: "Leukoaraioses" EXACT []
xref: MESH:D049292
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9001621
name: Focal Segmental Glomerulosclerosis 4
synonym: "END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO" RELATED []
synonym: "Focal Segmental Glomerulosclerosis 4, Susceptibility to" RELATED []
synonym: "FSGS4" EXACT []
xref: MIM:612551
is_a: DOID:1312 ! focal segmental glomerulosclerosis

[Term]
id: DOID:9001622
name: Chiari-Frommel Syndrome
def: "A POSTPARTUM condition consists of persistent lactation (GALACTORRHEA) and AMENORRHEA in patients not BREAST FEEDING." [MESH:D002640]
synonym: "Frommel's disease" EXACT []
synonym: "Frommel disease" EXACT []
xref: MESH:D002640
is_a: DOID:12700 ! hyperprolactinemia
is_a: DOID:225 ! syndrome
is_a: DOID:9002090 ! Galactorrhea

[Term]
id: DOID:9001623
name: JOINT LAXITY, SHORT STATURE, AND MYOPIA
synonym: "GZF1-RELATED CONDITION" EXACT []
synonym: "JLSM" EXACT []
xref: MIM:617662
is_a: DOID:11830 ! myopia
is_a: DOID:9005077 ! Joint Instability
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007661 ! Dwarfism
created_by: rgd
creation_date: 2017-12-04T00:00:00Z

[Term]
id: DOID:9001626
name: Chromosome 17 Deletion
synonym: "17p- Syndrome" EXACT []
synonym: "Chromosome 17p Deletion Syndrome" EXACT []
synonym: "Deletion 17p Syndrome" EXACT []
synonym: "Interstitial deletion 17p" EXACT []
synonym: "Partial Monosomy 17p" EXACT []
xref: MESH:C538045
is_a: DOID:0060388 ! chromosomal deletion syndrome

[Term]
id: DOID:9001627
name: Pathologic Constriction
def: "The condition of an anatomical structure's being constricted beyond normal dimensions." [MESH:D003251]
synonym: "pathological constriction" EXACT []
synonym: "pathologic constrictions" EXACT []
synonym: "Stenoses" EXACT []
synonym: "Stenosis" EXACT []
synonym: "stricture" EXACT []
synonym: "strictures" EXACT []
xref: EFO:0006818
xref: MESH:D003251
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9001628
name: Bilateral Atresia of External Auditory Canal with Congenital Vertical Talus
alt_id: MIM:108760
synonym: "Atresia of External Auditory Canal and Conduction Deafness" EXACT []
xref: MESH:C566245
is_a: DOID:9588 ! encephalitis

[Term]
id: DOID:9001629
name: 5 Alpha Fluorouracil Toxicity
xref: MESH:C531667
xref: RDO:0000098
is_a: DOID:14218 ! dihydropyrimidine dehydrogenase deficiency

[Term]
id: DOID:9001630
name: Allesthesia
def: "A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus." [MESH:D066190]
synonym: "Allachesthesia" EXACT []
synonym: "Allachesthesias" EXACT []
synonym: "Allesthesias" EXACT []
synonym: "Allochiria" EXACT []
synonym: "Allochirias" EXACT []
synonym: "Alloesthesia" EXACT []
synonym: "Alloesthesias" EXACT []
synonym: "Dyschiria" EXACT []
synonym: "Dyschirias" EXACT []
xref: MESH:D066190
xref: MONDO:0024430
is_a: DOID:9004523 ! Perceptual Disorders

[Term]
id: DOID:9001631
name: Hypochromic Microcytic Anemia with Iron Overload
synonym: "microcytic anemia and hepatic iron overload" EXACT []
synonym: "microcytic anemia with liver iron overload" EXACT []
xref: MESH:C567144
xref: MIM:PS206100
is_a: DOID:0050642 ! hypochromic microcytic anemia
created_by: mtutaj
creation_date: 2019-03-21T12:43:52Z

[Term]
id: DOID:9001633
name: Chromosome 4, Trisomy 4q32.1-q32.2
synonym: "Chromosome 4q32.1-q32.2 triplication syndrome" EXACT []
xref: MIM:613603
is_a: DOID:9003960 ! Trisomy
created_by: mtutaj
creation_date: 2022-12-12T12:10:31Z

[Term]
id: DOID:9001634
name: Meckel Syndrome 9
synonym: "Meckel Syndrome, Type 9" EXACT []
synonym: "MKS9" EXACT []
xref: MIM:614209
is_a: DOID:0050778 ! Meckel syndrome

[Term]
id: DOID:9001635
name: Immunodeficiency 93
def: "An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Caused by homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31." [MIM:619705]
synonym: "IMD93" EXACT []
synonym: "immunodeficiency 93 and hypertrophic cardiomyopathy" EXACT []
xref: MIM:619705
is_a: DOID:11984 ! hypertrophic cardiomyopathy
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2022-01-27T09:54:19Z

[Term]
id: DOID:9001636
name: Darier Disease, Segmental
xref: MESH:C565126
is_a: DOID:2734 ! keratosis follicularis

[Term]
id: DOID:9001637
name: Malignant Neurogenic Muscular Atrophy
alt_id: MIM:158650
xref: MESH:C563559
is_a: DOID:767 ! muscular atrophy

[Term]
id: DOID:9001638
name: Seborrhea-Like Dermatitis with Psoriasiform Elements
alt_id: MIM:610227
xref: MESH:C565217
is_a: DOID:2723 ! dermatitis

[Term]
id: DOID:9001639
name: Knobloch Syndrome Type III
xref: MESH:C548031
is_a: DOID:9002033 ! Knobloch Syndrome

[Term]
id: DOID:9001640
name: X Chromosome, Duplication Xq13 1 q21 1
synonym: "Duplication Xq13 1 q21 1" EXACT []
synonym: "Trisomy Xq13 1 q21 1" EXACT []
xref: MESH:C536753
xref: RDO:0002433
is_a: DOID:9003307 ! Sex Chromosome Aberrations
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9001641
name: Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair
alt_id: MIM:164680
xref: MESH:C563506
is_a: DOID:4123 ! nail disease
is_a: DOID:421 ! hair disease
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9001642
name: Intestinal Polyps
def: "Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." [MESH:D007417]
synonym: "Appendix Hyperplastic Polyp" NARROW []
synonym: "Colorectal Juvenile Polyp" NARROW []
synonym: "Intestinal Polyp" EXACT []
synonym: "Rectal Hyperplastic Polyp" NARROW []
xref: EFO:0003855
xref: EFO:1000091
xref: EFO:1000194
xref: EFO:1000502
xref: MESH:D007417
xref: MONDO:0021392
is_a: DOID:9003896 ! Polyps

[Term]
id: DOID:9001643
name: CD59 Deficiency
alt_id: MIM:612300
synonym: "HACD59" EXACT []
synonym: "HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY" EXACT []
xref: MESH:C567355
xref: RDO:0015446
is_a: DOID:582 ! hemoglobinuria
is_a: DOID:583 ! hemolytic anemia

[Term]
id: DOID:9001644
name: Familial Acne Inversa 2
synonym: "ACNINV2" EXACT []
synonym: "familial acne inversa 2, with or without Dowling-Degos disease" EXACT []
xref: MIM:613736
xref: MONDO:0013397
is_a: DOID:9008895 ! Familial Hidradenitis Suppurativa
created_by: mtutaj
creation_date: 2021-07-16T16:05:13Z

[Term]
id: DOID:9001645
name: Coronaviridae Infections
alt_id: MIM:122460
def: "Virus diseases caused by CORONAVIRIDAE." [MESH:D003333]
synonym: "Coronaviridae Infection" EXACT []
synonym: "Coronaviridae infectious disease" EXACT []
synonym: "CORONAVIRUS 229E SUSCEPTIBILITY" EXACT []
synonym: "CVS" EXACT []
synonym: "HCVS" EXACT []
synonym: "HUMAN CORONAVIRUS SENSITIVITY" EXACT []
xref: EFO:0007223
xref: MESH:D003333
xref: RDO:0005282
is_a: DOID:9008504 ! Nidovirales Infections

[Term]
id: DOID:9001646
name: Specific Language Impairment 3
synonym: "SLI3" EXACT []
xref: MIM:607134
is_a: DOID:0060244 ! specific language impairment

[Term]
id: DOID:9001647
name: HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS
synonym: "HPPD" EXACT []
xref: MIM:614187
xref: RDO:0010100
is_a: DOID:13929 ! lacrimal duct obstruction
is_a: DOID:2742 ! auditory system disease
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9001648
name: Methylenetetrahydrofolate Reductase Deficiency
alt_id: MIM:236250
synonym: "GENERALIZED CEREBRAL ATROPHY/HYPOPLASIA" EXACT []
synonym: "HOMOCYSTEINEMIA DUE TO MTHFR DEFICIENCY" EXACT []
synonym: "HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY" EXACT []
synonym: "Homocystinuria due to MTHFR Deficiency" EXACT []
synonym: "MTHFR DEFICIENCY  MTHFR DEFICIENCY, THERMOLABILE TYPE" NARROW []
xref: MESH:C537357
xref: NCI:C84524
is_a: DOID:2468 ! psychotic disorder
is_a: DOID:9007428 ! Muscle Spasticity
is_a: DOID:9263 ! homocystinuria

[Term]
id: DOID:9001649
name: Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development
def: "Aside from the clinical features of infantile cataract, skin abnormalities, and impaired intellectual development, CASGID is characterized by strikingly high intracerebral and urinary glutamate excess with almost undetectable glutamine. A gain-of-function mutation in the glutaminase (GLS) gene was found. GLS loss of function is implicated in a form of neonatal epileptic encephalopathy (EIEE71) and a syndrome of global developmental delay and progressive ataxia (GDPAG). (OMIM)" []
synonym: "CASGID" EXACT []
xref: MIM:618339
is_a: DOID:1059 ! intellectual disability
is_a: DOID:83 ! cataract
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: mtutaj
creation_date: 2019-02-26T07:55:13Z

[Term]
id: DOID:9001650
name: Pregnancy-Induced Hypertension
def: "A condition in pregnant women with elevated systolic (>140 mm Hg) and diastolic (>90 mm Hg) blood pressure on at least two occasions 6 h apart. HYPERTENSION complicates 8-10% of all pregnancies, generally after 20 weeks of gestation. Gestational hypertension can be divided into several broad categories according to the complexity and associated symptoms, such as EDEMA; PROTEINURIA; SEIZURES; abnormalities in BLOOD COAGULATION and liver functions." [MESH:D046110]
synonym: "gestational hypertension" EXACT []
synonym: "PIH" EXACT []
synonym: "pregnancy-induced hypertension, susceptibility to" RELATED []
synonym: "Pregnancy Transient Hypertension" EXACT []
xref: MESH:D046110
xref: MONDO:0024664
is_a: DOID:10763 ! hypertension
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9001651
name: Piussan Lenaerts Mathieu syndrome
synonym: "Thumb ankylosis with mental retardation" EXACT []
xref: MESH:C537511
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:227 ! ankylosis

[Term]
id: DOID:9001652
name: Calcium Oxalate Nephrolithiasis 1
def: "A calcium oxalate nephrolithiasis caused by compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16." []
synonym: "CAON1" EXACT []
xref: MIM:167030
is_a: DOID:0080652 ! calcium oxalate nephrolithiasis
created_by: mtutaj
creation_date: 2023-05-30T14:39:56Z

[Term]
id: DOID:9001653
name: Nocturia
def: "Frequent URINATION at night that interrupts sleep. It is often associated with outflow obstruction, DIABETES MELLITUS, or bladder inflammation (CYSTITIS)." [MESH:D053158]
synonym: "Nycturia" EXACT []
xref: MESH:D053158
is_a: DOID:9003962 ! Lower Urinary Tract Symptoms

[Term]
id: DOID:9001654
name: Colonic Atresia
alt_id: MIM:303650
xref: MESH:C562562
is_a: DOID:10486 ! intestinal atresia

[Term]
id: DOID:9001655
name: GSD IV, Neuromuscular Form, Childhood
xref: MESH:C565543
xref: RDO:0014151
is_a: DOID:2750 ! glycogen storage disease IV
is_a: DOID:440 ! neuromuscular disease

[Term]
id: DOID:9001656
name: Alien Hand Syndrome
def: "An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex, stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration)." [MESH:D055964]
synonym: "Alien Hand Syndromes" EXACT []
synonym: "Anarchic Hand Syndrome" EXACT []
synonym: "Anarchic Hand Syndromes" EXACT []
xref: EFO:1001261
xref: MESH:D055964
is_a: DOID:0060135 ! apraxia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9001657
name: Sertoli Cell-Only Syndrome, Type II
alt_id: RDO:0013131
xref: MESH:C564032
is_a: DOID:0050457 ! Sertoli cell-only syndrome

[Term]
id: DOID:9001659
name: limb reperfusion injury
def: "This is adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to one or more limbs, including swelling; hemorrhage; necrosis; and damage from free radicals. A limb is a paired appendage that is evolved from a paired fin." [PMID:36495512, UBERON:0002101]
synonym: "forelimb reperfusion injury" NARROW []
synonym: "hindlimb reperfusion injury" NARROW []
is_a: DOID:9004009 ! Reperfusion Injury
relationship: has_component DOID:0050852 ! limb ischemia
created_by: slaulede
creation_date: 2023-08-03T15:35:52Z

[Term]
id: DOID:9001660
name: Digeorge Syndrome/Velocardiofacial Syndrome Complex 2
alt_id: MIM:601362
synonym: "DGS2" EXACT []
xref: MESH:C563337
is_a: DOID:11198 ! DiGeorge syndrome

[Term]
id: DOID:9001661
name: Taste Disorders
def: "Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)." [MESH:D013651]
synonym: "Metallic Taste" EXACT []
synonym: "Metallic Tastes" EXACT []
synonym: "Primary Taste Disorder" EXACT []
synonym: "Primary Taste Disorders" EXACT []
synonym: "Secondary Taste Disorder" EXACT []
synonym: "Secondary Taste Disorders" EXACT []
synonym: "Taste Disorder" EXACT []
synonym: "Taste Disorder, Anterior Tongue" EXACT []
synonym: "Taste Disorder, Posterior Tongue" EXACT []
synonym: "Taste Disorder, Primary, Bitter" EXACT []
synonym: "Taste Disorder, Primary, Salt" EXACT []
synonym: "Taste Disorder, Primary, Sweet" EXACT []
synonym: "Taste Disorder, Secondary, Bitter" EXACT []
synonym: "Taste Disorder, Secondary, Salt" EXACT []
synonym: "Taste Disorder, Secondary, Sweet" EXACT []
xref: MESH:D013651
is_a: DOID:0050155 ! sensory system disease

[Term]
id: DOID:9001662
name: Infratentorial Neoplasms
def: "Intracranial tumors originating in the region of the brain inferior to the tentorium cerebelli, which contains the cerebellum, fourth ventricle, cerebellopontine angle, brain stem, and related structures. Primary tumors of this region are more frequent in children, and may present with ATAXIA; CRANIAL NERVE DISEASES; vomiting; HEADACHE; HYDROCEPHALUS; or other signs of neurologic dysfunction. Relatively frequent histologic subtypes include TERATOMA; MEDULLOBLASTOMA; GLIOBLASTOMA; ASTROCYTOMA; EPENDYMOMA; CRANIOPHARYNGIOMA; and choroid plexus papilloma (PAPILLOMA, CHOROID PLEXUS)." [MESH:D015192]
synonym: "benign infratentorial neoplasm" EXACT []
synonym: "benign infratentorial neoplasms" EXACT []
synonym: "Infratentorial Neoplasm" EXACT []
synonym: "Infratentorial Tumor" EXACT []
synonym: "Infratentorial Tumors" EXACT []
synonym: "Malignant Infratentorial Neoplasm" EXACT []
synonym: "Malignant Infratentorial Neoplasms" EXACT []
synonym: "Posterior Fossa Neoplasm" EXACT []
synonym: "Posterior Fossa Neoplasms" EXACT []
synonym: "Posterior Fossa Tumor" EXACT []
synonym: "Posterior Fossa Tumors" EXACT []
xref: MESH:D015192
is_a: DOID:9007502 ! Brain Neoplasms

[Term]
id: DOID:9001663
name: Twinning due to Superfetation
alt_id: MIM:191250
synonym: "Superfetation Twinning" EXACT []
xref: MESH:C566018
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9001664
name: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME
def: "This is a disease characterized by microphthalmia and/or coloboma in association with other congenital anomalies, including imperforate anus, horseshoe kidney, astructural cardiac defects, deafness, and severe developmental delay." [MIM:619318]
synonym: "OGIN" EXACT []
xref: MIM:619318
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008296 ! Eye Abnormalities
created_by: slaulede
creation_date: 2021-06-18T11:16:56Z

[Term]
id: DOID:9001665
name: Aneurysm
def: "Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics." [MESH:D000783]
synonym: "Aneurysms" EXACT []
synonym: "Fusiform Aneurysm" EXACT []
synonym: "Fusiform Aneurysms" EXACT []
synonym: "Saccular Aneurysm" EXACT []
xref: EFO:0009659
xref: MESH:D000783
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:9001666
name: Acanthocheilonemiasis
def: "A tropical infectious disease found mainly in Africa that is caused by the filarial parasite ACANTHOCHEILONEMA. Symptoms include skin rashes, abdominal, chest, muscle, and joint pains, neurologic disorders, skin lumps, and elevated levels of white blood cells. The parasite is transmitted through the bite of small flies." [MESH:D063485]
synonym: "Acanthocheilonemiases" EXACT []
xref: MESH:D063485
xref: RDO:0012119
is_a: DOID:1080 ! filariasis

[Term]
id: DOID:9001667
name: Finger Injuries
def: "General or unspecified injuries involving the fingers." [MESH:D005383]
synonym: "Finger Injury" EXACT []
xref: MESH:D005383
xref: RDO:0005606
is_a: DOID:9004317 ! Hand Injuries

[Term]
id: DOID:9001668
name: Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2
def: "HGPPS2 is caused by homozygous mutation in the DCC gene on chromosome 18q21. (OMIM)" []
synonym: "GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT" EXACT []
synonym: "HGPPS2" EXACT []
xref: MIM:617542
is_a: DOID:9004787 ! Familial Horizontal Gaze Palsy with Progressive Scoliosis
created_by: rgd
creation_date: 2017-08-08T00:00:00Z

[Term]
id: DOID:9001669
name: Synovial Cyst
def: "Non-neoplastic tumor-like lesions at joints, developed from the SYNOVIAL MEMBRANE of a joint through the JOINT CAPSULE into the periarticular tissues. They are filled with SYNOVIAL FLUID with a smooth and translucent appearance. A synovial cyst can develop from any joint, but most commonly at the back of the knee, where it is known as POPLITEAL CYST." [MESH:D013581]
synonym: "Synovial Cysts" EXACT []
xref: MESH:D013581
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9001670
name: Rajab Interstitial Lung Disease with Brain Calcifications 2
synonym: "RILDBC2" EXACT []
xref: MIM:619013
is_a: DOID:9001942 ! Rajab Interstitial Lung Disease with Brain Calcifications
created_by: mtutaj
creation_date: 2020-09-09T08:03:33Z

[Term]
id: DOID:9001672
name: pancolitis
def: "This is an inflammatory bowel disease that involves the entire colon." [DOID:0060180, HP:0033256]
synonym: "universal colitis" EXACT []
xref: EFO:0005626
is_a: DOID:0060180 ! colitis
created_by: slaulede
creation_date: 2023-01-24T14:24:27Z

[Term]
id: DOID:9001673
name: leptomeningeal metastasis
def: "This is the transfer of a malignant neoplasm that has spread from its original site of growth to the leptomeninges around the brain or spinal cord." [EFO:1001012]
synonym: "metastatic tumor to the Leptomeninges" EXACT []
xref: EFO:1001012
is_a: DOID:9000965 ! Neoplasm Metastasis
is_a: DOID:9007166 ! Meningeal Neoplasms
created_by: slaulede
creation_date: 2022-09-12T13:25:33Z

[Term]
id: DOID:9001674
name: Hereditary Thermosensitive Neuropathy
alt_id: MIM:602107
xref: MESH:C566575
is_a: DOID:2477 ! motor peripheral neuropathy

[Term]
id: DOID:9001676
name: Myopia 9
alt_id: MIM:609258
synonym: "MYP9" EXACT []
xref: MESH:C563759
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9001677
name: Krauss Herman Holmes Syndrome
synonym: "Telecanthus, hypertelorism, strabismus, and pes cavus syndrome" EXACT []
xref: MESH:C537618
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:225 ! syndrome
is_a: DOID:540 ! strabismus
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9003938 ! Foot Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001678
name: Periventricular Nodular Heterotopia 7
def: "A neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability. (OMIM)" []
synonym: "NEDD4L-RELATED CONDITION" EXACT []
synonym: "Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay" EXACT []
synonym: "PVNH7" EXACT []
xref: MIM:617201
is_a: DOID:0050454 ! periventricular nodular heterotopia
is_a: DOID:11193 ! syndactyly
is_a: DOID:674 ! cleft palate
is_a: DOID:9008086 ! Developmental Disabilities
created_by: rgd
creation_date: 2016-12-06T00:00:00Z

[Term]
id: DOID:9001679
name: Collagenopathy, Type 2 Alpha 1
synonym: "Cartilage collagen" EXACT []
xref: MESH:C535964
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9001680
name: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS
synonym: "Familial Osteochondritis Dissecans" EXACT []
synonym: "OD" EXACT []
synonym: "OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS" NARROW []
synonym: "SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME" NARROW []
synonym: "SHORT STATURE AND ADVANCED BONE AGE" EXACT []
synonym: "SHORT STATURE AND ADVANCED BONE AGE, WITH EARLY-ONSET OSTEOARTHRITIS" NARROW []
synonym: "SSOAOD" EXACT []
xref: MESH:C580095
xref: MIM:165800
xref: MONDO:0100462
is_a: DOID:8398 ! osteoarthritis
is_a: DOID:84 ! osteochondritis dissecans
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001681
name: Primrose Syndrome
alt_id: MIM:259050
synonym: "ossified ear cartilages with mental deficiency, muscle wasting, and bony changes" EXACT []
synonym: "PRIMS" EXACT []
xref: MESH:C536420
is_a: DOID:1059 ! intellectual disability
is_a: DOID:182 ! calcinosis
is_a: DOID:225 ! syndrome
is_a: DOID:2742 ! auditory system disease
is_a: DOID:767 ! muscular atrophy
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001682
name: Nose Deformities, Acquired
def: "Abnormalities of the nose acquired after birth from injury or disease." [MESH:D009667]
synonym: "Acquired Nasal Deformities" EXACT []
synonym: "Acquired Nasal Deformity" EXACT []
synonym: "Acquired Nose Deformity" EXACT []
xref: MESH:D009667
xref: RDO:0000568
is_a: DOID:2825 ! nose disease

[Term]
id: DOID:9001683
name: Digestive System Abnormalities
def: "Congenital structural abnormalities of the DIGESTIVE SYSTEM." [MESH:D004065]
synonym: "Digestive System Abnormality" EXACT []
xref: MESH:D004065
xref: RDO:0000418
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9001684
name: Malformations of Cortical Development, Group III
def: "Cortical malformations secondary to abnormal cortical maturation after CELL MIGRATION in NEUROGENESIS. This group includes injury to the cortex during later stages of cortical development such as POLYMICROGYRIA and focal cortical dysplasias." [MESH:D065704]
synonym: "Cortical Malformations, Group III" EXACT []
synonym: "Malformations Due to Abnormal Postmigrational Development" EXACT []
synonym: "Malformations Secondary to Abnormal Postmigrational Development" EXACT []
xref: MESH:D065704
xref: RDO:0015981
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations

[Term]
id: DOID:9001685
name: Isolated Microphthalmia with Coloboma 6
synonym: "MCOPCB6" EXACT []
xref: MIM:613703
is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma

[Term]
id: DOID:9001686
name: Acute Coronary Syndrome
def: "An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION." [MESH:D054058]
synonym: "acute coronary syndromes" EXACT []
synonym: "factor XII polymorphism" RELATED []
xref: EFO:0005672
xref: MESH:D054058
is_a: DOID:225 ! syndrome
is_a: DOID:9007102 ! Myocardial Ischemia

[Term]
id: DOID:9001687
name: Pubic Symphysis Diastasis
def: "Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes." [MESH:D046548]
synonym: "Diastasis Symphysis Pubis" EXACT []
synonym: "Pubic Symphysis Diastases" EXACT []
synonym: "Symphysis Pubis Diastases" EXACT []
xref: EFO:1001833
xref: MESH:D046548
xref: RDO:0007531
is_a: DOID:9001791 ! Puerperal Disorders
is_a: DOID:9007804 ! Diastasis, Bone

[Term]
id: DOID:9001689
name: Cerebellar Neoplasms
def: "Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" [MESH:D002528]
synonym: "Benign Cerebellar Neoplasm" EXACT []
synonym: "benign cerebellar neoplasms" EXACT []
synonym: "Cerebellar Neoplasm" EXACT []
synonym: "Cerebellar Tumor" EXACT []
synonym: "Cerebellar Tumors" EXACT []
synonym: "Cerebellum Primary Neoplasm" EXACT []
synonym: "cerebellum primary neoplasms" EXACT []
synonym: "primary cerebellar neoplasm" EXACT []
synonym: "primary cerebellar neoplasms" EXACT []
xref: MESH:D002528
xref: NCI:C191764
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:9001662 ! Infratentorial Neoplasms

[Term]
id: DOID:9001690
name: Primary Autosomal Recessive Microcephaly 30
def: "A disease characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development. Caused by homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q14." [MIM:620183]
synonym: "MCPH30" EXACT []
xref: MIM:620183
is_a: DOID:0070296 ! primary autosomal recessive microcephaly
created_by: mtutaj
creation_date: 2023-01-04T13:43:24Z

[Term]
id: DOID:9001691
name: Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency
alt_id: MIM:608406
xref: MESH:C564244
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:6432 ! pulmonary hypertension
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001692
name: Primary Ciliary Dyskinesia 46
def: "Characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia. Caused by homozygous mutation in the STK36 gene on chromosome 2q35. (OMIM)" []
synonym: "CILD46" EXACT []
synonym: "STK36-RELATED CONDITION" EXACT []
xref: MIM:619436
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: mtutaj
creation_date: 2021-07-16T16:10:58Z

[Term]
id: DOID:9001693
name: Senior-Loken Syndrome 9
def: "An autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. (OMIM)" []
synonym: "SLSN9" EXACT []
xref: MIM:616629
is_a: DOID:0050576 ! Senior-Loken syndrome
created_by: rgd
creation_date: 2017-04-04T00:00:00Z

[Term]
id: DOID:9001694
name: NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES
alt_id: MIM:618709
def: "A highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging." [MIM:618709]
synonym: "DLL1-RELATED CONDITION" EXACT []
synonym: "NEDBAS" EXACT []
xref: EFO:0010661
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2020-01-14T16:28:42Z

[Term]
id: DOID:9001695
name: Synovial Chondromatosis
def: "Rare, benign, chronic, progressive metaplasia in which cartilage is formed in the synovial membranes of joints, tendon sheaths, or bursae. Some of the metaplastic foci can become detached producing loose bodies. When the loose bodies undergo secondary calcification, the condition is called synovial osteochondromatosis." [MESH:D015838]
synonym: "Henderson Jones Syndrome" EXACT []
synonym: "Reichel's Syndrome" EXACT []
synonym: "Reichels Syndrome" EXACT []
synonym: "Reichel Syndrome" EXACT []
synonym: "Synovial Chondromatoses" EXACT []
synonym: "Synovial Chondrometaplasia" EXACT []
synonym: "Synovial Chondrometaplasias" EXACT []
synonym: "Synovial Osteochondromatoses" EXACT []
synonym: "Synovial Osteochondromatosis" EXACT []
xref: EFO:1000557
xref: MESH:D015838
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:9001697
name: Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies
alt_id: MIM:602196
synonym: "Campomelic dysplasia, mild" EXACT []
synonym: "SKELETAL DYSPLASIA RELATED TO CAMPOMELIC DYSPLASIA" EXACT []
xref: MESH:C535775
is_a: DOID:0050463 ! campomelic dysplasia
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome

[Term]
id: DOID:9001698
name: Alpha-Mannosidosis, Type 1
alt_id: RDO:0002209
def: "A mild form recognized after age ten years with absence of skeletal abnormalities, muscle problems (myopathy), and slow progression. (GARD)" []
xref: MESH:C536584
is_a: DOID:3413 ! alpha-mannosidosis

[Term]
id: DOID:9001699
name: gangrene
def: "Death and putrefaction of tissue usually due to a loss of blood supply." [MESH:D005734]
xref: EFO:0008574
xref: MESH:D005734
is_a: DOID:9005749 ! Necrosis

[Term]
id: DOID:9001700
name: Thoracolaryngopelvic Dysplasia
alt_id: MIM:187760
synonym: "Autosomal dominant thoracolaryngopelvic dysplasia" EXACT []
synonym: "Barnes syndrome" EXACT []
xref: MESH:C536517
is_a: DOID:11088 ! asphyxia neonatorum
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001701
name: Pellagra like Syndrome
alt_id: MIM:260650
synonym: "Pellagra-like rash with neurologic manifestations" EXACT []
xref: MESH:C538352
is_a: DOID:225 ! syndrome
is_a: DOID:8457 ! pellagra

[Term]
id: DOID:9001702
name: Tucker Syndrome
alt_id: MIM:193240
synonym: "congenital bilateral recurrent nerve paralysis and ptosis" EXACT []
synonym: "ptosis vocal cord paralysis" EXACT []
synonym: "vocal cord paralysis and ptosis" EXACT []
xref: MESH:C536923
is_a: DOID:0060260 ! ptosis
is_a: DOID:225 ! syndrome
is_a: DOID:9000586 ! Vocal Cord Paralysis

[Term]
id: DOID:9001703
name: Autosomal Recessive Congenital Ichthyosis 12
synonym: "ARCI12" EXACT []
xref: MIM:617320
xref: RDO:9001604
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:9001704
name: Pili Torti, Developmental Delay, Neurological Abnormalities
alt_id: MIM:261990
synonym: "abnormal hair, joint laxity, and developmental delay" EXACT []
synonym: "pili torti and developmental delay" EXACT []
xref: MESH:C537398
is_a: DOID:9001511 ! Pili Torti
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001705
name: Chromosome 11q Partial Deletion
synonym: "Deletion 11q partial" EXACT []
synonym: "Monosomy 11q partial" EXACT []
xref: MESH:C538296
xref: RDO:0004258
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9001706
name: Edentulous Jaw
def: "The total absence of teeth from either the mandible or the maxilla, but not both. Total absence of teeth from both is MOUTH, EDENTULOUS. Partial absence of teeth in either is JAW, EDENTULOUS, PARTIALLY." [MESH:D007575]
synonym: "Edentulous Jaws" EXACT []
xref: MESH:D007575
is_a: DOID:9003876 ! Jaw Diseases
is_a: DOID:9007083 ! Edentulous Mouth

[Term]
id: DOID:9001707
name: BULIMIA NERVOSA 2
synonym: "BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2" RELATED []
synonym: "BULN2" EXACT []
is_a: DOID:12129 ! bulimia nervosa
created_by: slaulede
creation_date: 2019-07-01T10:51:22Z

[Term]
id: DOID:9001708
name: Hemorrhagic Shock
def: "Acute hemorrhage or excessive fluid loss resulting in HYPOVOLEMIA." [MESH:D012771]
xref: MESH:D012771
is_a: DOID:9002549 ! Shock
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9001709
name: Zoster Sine Herpete
def: "HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." [MESH:D031368]
synonym: "Zoster Sine Eruptione" EXACT []
xref: EFO:1001453
xref: MESH:D031368
xref: RDO:0007480
is_a: DOID:8536 ! herpes zoster

[Term]
id: DOID:9001710
name: CANOMAD Syndrome
xref: MESH:C537980
xref: RDO:0003909
is_a: DOID:225 ! syndrome
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:718 ! autoimmune hemolytic anemia
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9001711
name: Central Cord Syndrome
def: "A syndrome associated with traumatic injury to the cervical or upper thoracic regions of the spinal cord characterized by weakness in the arms with relative sparing of the legs and variable sensory loss. This condition is associated with ischemia, hemorrhage, or necrosis involving the central portions of the spinal cord. Corticospinal fibers destined for the legs are spared due to their more external location in the spinal cord. This clinical pattern may emerge during recovery from spinal shock. Deficits may be transient or permanent." [MESH:D020210]
synonym: "Central Cord Injury Syndrome" EXACT []
synonym: "Central Spinal Cord Syndrome" EXACT []
xref: EFO:1001772
xref: MESH:D020210
is_a: DOID:225 ! syndrome
is_a: DOID:9000039 ! Spinal Cord Injuries

[Term]
id: DOID:9001712
name: Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities
def: "An early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder or Angelman syndrome. (OMIM)" []
synonym: "NEDASB" EXACT []
xref: MIM:618859
is_a: DOID:12849 ! autistic disorder
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006534 ! Nervous System Malformations
created_by: slaulede
creation_date: 2020-08-10T15:29:17Z

[Term]
id: DOID:9001713
name: Spatial Visualization, Aptitude For
synonym: "VISUOSPATIAL/PERCEPTUAL ABILITIES" NARROW []
synonym: "VSPA  TURNER SYNDROME-ASSOCIATED NEUROCOGNITIVE PHENOTYPE" NARROW []
xref: MIM:313000
xref: RDO:0008715
is_a: DOID:9000343 ! Vision Disorders

[Term]
id: DOID:9001714
name: Ankle Injuries
def: "Harm or hurt to the ankle or ankle joint usually inflicted by an external source." [MESH:D016512]
synonym: "Ankle Injury" EXACT []
synonym: "Ankle Sprain" EXACT []
synonym: "Ankle Sprains" EXACT []
synonym: "Syndesmotic Injuries" EXACT []
synonym: "Syndesmotic Injury" EXACT []
xref: EFO:1002021
xref: MESH:D016512
is_a: DOID:9008911 ! Leg Injuries

[Term]
id: DOID:9001715
name: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
alt_id: MIM:231530
synonym: "3-Alpha-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency" EXACT []
synonym: "3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency" EXACT []
synonym: "DEFICIENCY OF 3-HYDROXYACYL-COA DEHYDROGENASE" EXACT []
synonym: "HAD Deficiency" EXACT []
synonym: "HADH Deficiency" EXACT []
synonym: "HADHSC Deficiency" EXACT []
synonym: "L-3-Alpha-Hydroxyacyl-CoA Dehydrogenase, Short Chain, Deficiency" EXACT []
synonym: "M-SCHAD Deficiency" EXACT []
synonym: "SCHAD Deficiency" EXACT []
xref: MESH:C535310
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9001716
name: Hip Contracture
def: "Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint. Locomotion is difficult and pain is sometimes present when the hip is in motion. It may be caused by trauma, infection, or poliomyelitis. (From Current Medical Information & Technology, 5th ed)" [MESH:D006616]
synonym: "Hip Contractures" EXACT []
xref: MESH:D006616
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:9001717
name: Telfer Sugar Jaeger Syndrome
alt_id: MIM:172850
synonym: "Piebald trait neurologic defects" EXACT []
synonym: "White forelock and leukoderma with neurological impairment" EXACT []
xref: MESH:C536955
is_a: DOID:225 ! syndrome
is_a: DOID:3263 ! piebaldism
is_a: DOID:480 ! movement disease

[Term]
id: DOID:9001718
name: Veterinary Abortion
def: "Premature expulsion of the FETUS in animals." [MESH:D000034]
synonym: "Veterinary Abortions" EXACT []
xref: MESH:D000034
is_a: DOID:9003281 ! Spontaneous Abortions
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9001719
name: Salter-Harris Fractures
def: "Fractures involving a GROWTH PLATE." [MESH:D000072042]
synonym: "Growth Plate Fracture" EXACT []
synonym: "Growth Plate Fractures" EXACT []
synonym: "Growth Plate Injuries" EXACT []
synonym: "Growth Plate Injury" EXACT []
xref: MESH:D000072042
is_a: DOID:9000012 ! Fracture Dislocation

[Term]
id: DOID:9001720
name: Anhaptoglobinemia
synonym: "Ahaptoglobinemia" EXACT []
synonym: "AHP" EXACT []
xref: MIM:614081
xref: RDO:9000701
is_a: DOID:620 ! blood protein disease

[Term]
id: DOID:9001721
name: Warburton Anyane Yeboa Syndrome
synonym: "Mosaic variegated aneuplody microcephaly syndrome" EXACT []
xref: MESH:C536682
xref: RDO:0002327
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9001722
name: Dysarthria
def: "Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)" [MESH:D004401]
synonym: "Dysarthoses" EXACT []
synonym: "Dysarthosis" EXACT []
synonym: "Dysarthrias" EXACT []
synonym: "Flaccid Dysarthria" EXACT []
synonym: "Flaccid Dysarthrias" EXACT []
synonym: "Guttural Dysarthria" EXACT []
synonym: "Guttural Dysarthrias" EXACT []
synonym: "Mixed Dysarthria" EXACT []
synonym: "Mixed Dysarthrias" EXACT []
synonym: "Scanning Dysarthria" EXACT []
synonym: "Scanning Dysarthrias" EXACT []
synonym: "Spastic Dysarthria" EXACT []
synonym: "Spastic Dysarthrias" EXACT []
xref: MESH:D004401
is_a: DOID:4186 ! articulation disorder

[Term]
id: DOID:9001724
name: Fusobacterium Infections
def: "Infections with bacteria of the genus FUSOBACTERIUM." []
synonym: "Fusobacterium Infection" EXACT []
synonym: "Fusobacterium infectious disease" EXACT []
synonym: "Necrobacilloses" EXACT []
synonym: "Necrobacillosis" EXACT []
synonym: "Sphaerophorus Infection" EXACT []
synonym: "Sphaerophorus Infections" EXACT []
xref: EFO:1000943
xref: MESH:D005674
is_a: DOID:9006349 ! Fusobacteriaceae Infections

[Term]
id: DOID:9001725
name: Retina Reperfusion Injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the retina, including swelling; hemorrhage; necrosis; and damage from free radicals." []
synonym: "Retinal Ischemia-Reperfusion Injury" EXACT []
synonym: "RIRI" EXACT []
xref: PMID:32452260
is_a: DOID:5679 ! retinal disease
is_a: DOID:9004009 ! Reperfusion Injury

[Term]
id: DOID:9001726
name: Wasting Syndrome
def: "A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism." [MESH:D019282]
synonym: "Wasting Disease" EXACT []
synonym: "Wasting Diseases" EXACT []
synonym: "Wasting Syndromes" EXACT []
xref: MESH:D019282
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:225 ! syndrome
is_a: DOID:374 ! nutrition disease

[Term]
id: DOID:9001727
name: French Type Sialuria
xref: MESH:C537332
is_a: DOID:3659 ! sialuria

[Term]
id: DOID:9001729
name: Median-Ulnar Nerve Communications
alt_id: MIM:155150
synonym: "Martin-Gruber Median-Ulnar Anastomosis" EXACT []
xref: MESH:C563598
is_a: DOID:9006534 ! Nervous System Malformations

[Term]
id: DOID:9001730
name: Salivary Calculi
def: "The presence of calculi in a salivary duct or gland." [MESH:D020792]
synonym: "Salivary Calculus" EXACT []
xref: MESH:D020792
is_a: DOID:10854 ! salivary gland disease
is_a: DOID:9005602 ! Calculi

[Term]
id: DOID:9001731
name: Cluster Headache, Familial
alt_id: MIM:119915
xref: MESH:C566117
is_a: DOID:9007081 ! Cluster Headache

[Term]
id: DOID:9001732
name: Nephrosialidosis
alt_id: MIM:256150
xref: MESH:C562606
is_a: DOID:2527 ! nephrosis
is_a: DOID:3343 ! glycoproteinosis

[Term]
id: DOID:9001733
name: Tinnitus
def: "A nonspecific symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, and other noises in the ear. Objective tinnitus refers to noises generated from within the ear or adjacent structures that can be heard by other individuals. The term subjective tinnitus is used when the sound is audible only to the affected individual. Tinnitus may occur as a manifestation of COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; and other conditions." [MESH:D014012]
synonym: "Clicking Tinnitus" EXACT []
synonym: "Leudet's Tinnitus" EXACT []
synonym: "Leudet Tinnitus" EXACT []
synonym: "Noise Induced Tinnitus" EXACT []
synonym: "Objective Tinnitus" EXACT []
synonym: "Pulsatile Tinnitus" EXACT []
synonym: "Ringing Buzzing Tinnitus" EXACT []
synonym: "Spontaneous Oto Acoustic Emission Tinnitus" EXACT []
synonym: "Subjective Tinnitus" EXACT []
synonym: "Tensor Palatini Induced Tinnitus" EXACT []
synonym: "Tensor Tympani Induced Tinnitus" EXACT []
synonym: "Tinnitus, Leudets" EXACT []
synonym: "Tinnitus of Vascular Origin" EXACT []
synonym: "Vascular Origin Tinnitus" EXACT []
xref: MESH:D014012
is_a: DOID:9002500 ! Hearing Disorders

[Term]
id: DOID:9001734
name: Neurocutaneous Syndromes
def: "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs." [MESH:D020752]
synonym: "Neurocutaneous Disorder" EXACT []
synonym: "Neurocutaneous Disorders" EXACT []
synonym: "Neurocutaneous Syndrome" EXACT []
synonym: "Neuroectodermal Dysplasia Syndrome" EXACT []
synonym: "Neuroectodermal Dysplasia Syndromes" EXACT []
synonym: "Phacomatoses" EXACT []
synonym: "Phacomatosis" EXACT []
synonym: "Phakomatoses" EXACT []
synonym: "Phakomatosis" EXACT []
xref: MESH:D020752
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:9001735
name: Skin/Hair/Eye Pigmentation, Variation In, 4
synonym: "SHEP4" NARROW []
synonym: "SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN" NARROW []
xref: MESH:C567300
xref: RDO:0015412
is_a: DOID:0080614 ! oculocutaneous albinism type VI
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9001736
name: Neurodevelopmental Disorder with Speech Impairment and with or without Seizures
def: "A phenotypically heterogeneous neurologic disorder whose severity appears to depend on the functional effect of the CACNA1I mutation." [MIM:620114]
synonym: "CACNA1I-RELATED CONDITION" EXACT []
synonym: "NEDSIS" EXACT []
xref: MIM:620114
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005466 ! Language Development Disorders
created_by: mtutaj
creation_date: 2022-11-21T14:44:15Z

[Term]
id: DOID:9001737
name: Sideroblastic Anemia 5
def: "An autosomal recessive hematologic disorder characterized by abnormal iron accumulation in the mitochondria or erythroid cells. Caused by compound heterozygous mutation in the HSCB gene on chromosome 22q12. (OMIM)" []
synonym: "SIDBA5" EXACT []
xref: MIM:619523
is_a: DOID:8955 ! sideroblastic anemia
created_by: mtutaj
creation_date: 2021-09-20T10:26:09Z

[Term]
id: DOID:9001738
name: Hypercalciuria
def: "Excretion of abnormally high level of CALCIUM in the URINE, greater than 4 mg/kg/day." [MESH:D053565]
synonym: "Hypercalciuria, childhood, self-limiting" NARROW []
xref: MESH:D053565
xref: RDO:0001509
is_a: DOID:10575 ! calcium metabolism disease
is_a: DOID:9007629 ! Urological Manifestations

[Term]
id: DOID:9001739
name: Johnston-Aarons-Schelley Syndrome
synonym: "Arthrogryposis with Hyperkeratosis" EXACT []
synonym: "Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns" EXACT []
xref: MESH:C535883
xref: MIM:208158
xref: MONDO:0008826
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:161 ! keratosis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9001740
name: Blue Nevus
def: "Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." [MESH:D018329]
synonym: "Blue Nevi" EXACT []
synonym: "Cellular Blue Nevi" EXACT []
synonym: "Cellular Blue Nevus" EXACT []
xref: EFO:1000841
xref: MESH:D018329
is_a: DOID:9005120 ! Pigmented Nevus

[Term]
id: DOID:9001741
name: Symphalangism with Multiple Anomalies of Hands and Feet
alt_id: MIM:185750
xref: MESH:C566098
is_a: DOID:11971 ! synostosis
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9001742
name: Hemospermia
def: "Blood in the SEMEN, usually due to INFLAMMATION of the PROSTATE, the SEMINAL VESICLES, or both." [MESH:D051516]
synonym: "Hematospermia" EXACT []
xref: MESH:D051516
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:9001743
name: Cataract 49
def: "Characterized by congenital cataract located in the posterior region of the lens. Visual impairment has onset in early childhood. Caused by heterozygous mutation in the PANK4 gene on chromosome 1p36. (OMIM)" []
synonym: "CTRCT49" EXACT []
synonym: "posterior cataract 49" EXACT []
xref: MIM:619593
is_a: DOID:83 ! cataract
created_by: mtutaj
creation_date: 2021-11-03T12:12:09Z

[Term]
id: DOID:9001744
name: Lethal Osteosclerotic Chondrodysplasia, with Intracellular Inclusions
alt_id: MIM:603393
xref: MESH:C566378
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:9001745
name: Fasciculation
def: "Involuntary contraction of the muscle fibers innervated by a motor unit. Fasciculations may be visualized as a muscle twitch or dimpling under the skin, but usually do not generate sufficient force to move a limb. They may represent a benign condition or occur as a manifestation of MOTOR NEURON DISEASE or PERIPHERAL NERVOUS SYSTEM DISEASES. (Adams et al., Principles of Neurology, 6th ed, p1294)" [MESH:D005207]
synonym: "Benign Fasciculation" EXACT []
synonym: "benign fasciculations" EXACT []
synonym: "Fasciculations" EXACT []
synonym: "Muscular Fasciculation" EXACT []
synonym: "Muscular Fasciculations" EXACT []
synonym: "Skeletal Muscle Fasciculation" EXACT []
synonym: "Skeletal Muscle Fasciculations" EXACT []
synonym: "Tongue Fasciculation" EXACT []
synonym: "tongue fasciculations" EXACT []
xref: MESH:D005207
is_a: DOID:9000165 ! Neuromuscular Manifestations

[Term]
id: DOID:9001746
name: Congenital Disorder of Glycosylation with Defective Fucosylation 2
synonym: "CDGF2" EXACT []
synonym: "FCSK-RELATED CONDITION" EXACT []
xref: MIM:618324
is_a: DOID:9001022 ! Congenital Disorder of Glycosylation with Defective Fucosylation
created_by: mtutaj
creation_date: 2019-02-21T00:00:00Z

[Term]
id: DOID:9001747
name: Ventricular Dysfunction, Left
def: "A condition in which the LEFT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE; MYOCARDIAL INFARCTION; and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the left ventricular wall." [MESH:D018487]
synonym: "Left Ventricular Dysfunctions" EXACT []
xref: MESH:D018487
xref: RDO:0007210
is_a: DOID:9007039 ! Ventricular Dysfunction

[Term]
id: DOID:9001748
name: Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy
alt_id: MIM:607674
xref: MESH:C564353
is_a: DOID:1059 ! intellectual disability
is_a: DOID:83 ! cataract

[Term]
id: DOID:9001749
name: Chemotherapy-Related Cognitive Impairment
def: "The diminished or impaired mental and/or intellectual function associated with the chemical treatment of cancer. (MESH)" []
synonym: "Chemobrain" EXACT []
synonym: "Chemo-Fog" EXACT []
synonym: "Chemotherapy-Induced Cognitive Dysfunction" EXACT []
synonym: "Chemotherapy-Induced Cognitive Impairment" EXACT []
synonym: "Chemotherapy-Related Cognitive Dysfunction" EXACT []
xref: MESH:D000084202
is_a: DOID:9002775 ! Cognitive Dysfunction
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions
created_by: mtutaj
creation_date: 2020-12-21T21:11:11Z

[Term]
id: DOID:9001751
name: Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans
alt_id: MIM:610549
alt_id: RDO:0012305
synonym: "Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, Type A" EXACT []
synonym: "INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS" EXACT []
synonym: "Insulin Receptor Defect with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans" EXACT []
synonym: "IRAN, Type A" EXACT []
xref: EFO:1001503
xref: MESH:C562710
is_a: DOID:3138 ! acanthosis nigricans
is_a: DOID:9007692 ! Insulin Resistance
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9001752
name: Shoulder Dislocation
def: "Displacement of the HUMERUS from the SCAPULA." [MESH:D012783]
synonym: "Glenohumeral Dislocation" EXACT []
synonym: "glenohumeral dislocations" EXACT []
synonym: "Glenohumeral Subluxation" EXACT []
synonym: "Glenohumeral Subluxations" EXACT []
synonym: "shoulder dislocations" EXACT []
synonym: "SHOULDER SUBLUXATION" NARROW []
xref: MESH:D012783
is_a: DOID:9003279 ! Joint Dislocations
is_a: DOID:9004155 ! Shoulder Injuries

[Term]
id: DOID:9001754
name: Moloney Syndrome
synonym: "Choroidal atrophy alopecia" EXACT []
synonym: "Regional choroidal atrophy and alopecia" EXACT []
xref: MESH:C535810
is_a: DOID:1415 ! gyrate atrophy
is_a: DOID:225 ! syndrome
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9001755
name: Haspeslagh Fryns Muelenaere Syndrome
alt_id: MIM:177980
synonym: "distinctive craniofacial features with pterygia and mental retardation" EXACT []
synonym: "Haspeslagh syndrome" EXACT []
synonym: "mental retardation with pterygia, shortness and distinct facial appearance" EXACT []
synonym: "pterygia, impaired intellectual development, and distinctive craniofacial features" EXACT []
synonym: "pterygia, mental retardation, and distinctive craniofacial features" EXACT []
xref: MESH:C535844
is_a: DOID:0002116 ! pterygium
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9001756
name: Hyphema
def: "Bleeding in the anterior chamber of the eye." [MESH:D006988]
synonym: "Hyphemas" EXACT []
xref: MESH:D006988
is_a: DOID:9004938 ! Eye Hemorrhage

[Term]
id: DOID:9001757
name: Patel Bixler Syndrome
synonym: "Alopecia, dysplastic nails, palmar and plantar hyperkeratosis" EXACT []
synonym: "Palmoplantar hyperkeratosis and alopecia" EXACT []
xref: MESH:C536306
is_a: DOID:225 ! syndrome
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:4123 ! nail disease
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9001758
name: Malunited Fractures
def: "Union of the fragments of a fractured bone in a faulty or abnormal position. If two bones parallel to one another unite by osseous tissue, the result is a crossunion. (From Manual of Orthopaedic Terminology, 4th ed)" [MESH:D017759]
synonym: "Crossunited Fracture" EXACT []
synonym: "Crossunited Fractures" EXACT []
synonym: "Fracture, Abnormal Union" EXACT []
synonym: "Fracture Malunion" EXACT []
synonym: "Fracture Malunions" EXACT []
synonym: "Fractures, Abnormal Union" EXACT []
synonym: "Malunited Fracture" EXACT []
xref: EFO:0010684
xref: MESH:D017759
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9001759
name: Ichthyosis Congenita with Biliary Atresia
alt_id: MIM:242400
xref: MESH:C562886
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis
is_a: DOID:13608 ! biliary atresia

[Term]
id: DOID:9001760
name: Dandruff
def: "Excessive shedding of dry scaly material from the scalp in humans." []
synonym: "Scurf" EXACT []
xref: MESH:D063807
is_a: DOID:2723 ! dermatitis
is_a: DOID:3136 ! scalp dermatosis

[Term]
id: DOID:9001761
name: Autosomal Dominant Nonsyndromic Deafness 87
def: "A nonsyndromic prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct, caused by heterozygous mutation in the PI4KB gene on chromosome 1q21." [MIM:620281]
synonym: "Deafness, autosomal dominant 87" EXACT []
synonym: "DFNA87" EXACT []
xref: MIM:620281
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2023-03-14T10:14:36Z

[Term]
id: DOID:9001762
name: Partial Atrioventricular Canal
synonym: "Atrial Septal Defect, Primum Type" EXACT []
synonym: "Partial atrioventricular septal defects" EXACT []
synonym: "Partial AVSD" EXACT []
synonym: "Partial common atrioventricular canal" EXACT []
xref: MESH:C536112
xref: RDO:0001551
is_a: DOID:1657 ! ventricular septal defect

[Term]
id: DOID:9001763
name: Spinal Dysplasia, Anhalt Type
alt_id: MIM:601344
xref: MESH:C563348
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9001764
name: Ausems Wittebol-Post Hennekam Syndrome
synonym: "Cleft lip with progressive retinopathy" EXACT []
xref: MESH:C538272
is_a: DOID:225 ! syndrome
is_a: DOID:5679 ! retinal disease
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9001765
name: Aloi Tomasini Isaia Syndrome
synonym: "Basal cell nevus, anodontia, abnormal bone mineralization" EXACT []
xref: MESH:C537049
is_a: DOID:13714 ! anodontia
is_a: DOID:225 ! syndrome
is_a: DOID:2512 ! nevoid basal cell carcinoma syndrome
is_a: DOID:9002278 ! Metabolic Bone Diseases

[Term]
id: DOID:9001766
name: Infantile Hypertrophic Pyloric Stenosis 4
alt_id: MIM:300711
synonym: "IHPS4" EXACT []
xref: MESH:C567472
is_a: DOID:12638 ! hypertrophic pyloric stenosis

[Term]
id: DOID:9001767
name: Unilateral Hearing Loss
alt_id: MIM:125000
def: "Partial or complete hearing loss in one ear." [MESH:D046088]
synonym: "unilateral deafness" EXACT []
xref: MESH:D046088
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9001768
name: Photoparoxysmal Response 2
alt_id: RDO:0009332
synonym: "PHOTOPAROXYSMAL RESPONSE WITH OR WITHOUT IDIOPATHIC GENERALIZED EPILEPSY" EXACT []
synonym: "PPR2" EXACT []
xref: MIM:609572
is_a: DOID:0060281 ! photosensitive epilepsy
is_a: DOID:9001793 ! Generalized Epilepsy

[Term]
id: DOID:9001769
name: Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis
def: "A syndrome that includes subnormal intellectual functioning, intermittent inability to perform smoothly coordinated voluntary movements, and congenital, persistent flexure or contracture of a joint." []
xref: RDO:9000517
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:963 ! episodic ataxia
created_by: rgd
creation_date: 2015-05-12T00:00:00Z

[Term]
id: DOID:9001770
name: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME
def: "This disease is an autosomal recessive syndromic developmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, and hypoplastic terminal phalanges and nails. Patients have seizures or tonic posturing. The disorder is associated with a defect in GPI anchoring of membrane-bound proteins." [MIM:619356]
synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 24" EXACT []
synonym: "GPIBD24" EXACT []
synonym: "OORS" EXACT []
synonym: "OORS SYNDROME" EXACT []
xref: MIM:619356
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9002278 ! Metabolic Bone Diseases
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
created_by: slaulede
creation_date: 2021-08-16T15:54:20Z

[Term]
id: DOID:9001772
name: Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum
xref: MESH:C536952
xref: MIM:273050
xref: MONDO:0010104
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008214 ! Genu Valgum
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9001773
name: Arroyo Garcia Cimadevilla Syndrome
synonym: "Bilateral anophthalmia, esophageal atresia, and right cryptorchidism" EXACT []
xref: MESH:C537439
is_a: DOID:10485 ! esophageal atresia
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:225 ! syndrome
is_a: DOID:9002049 ! Anophthalmia

[Term]
id: DOID:9001774
name: Neural Deafness with Atypical Atopic Dermatitis
alt_id: MIM:221700
xref: MESH:C565639
is_a: DOID:3310 ! atopic dermatitis
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9001775
name: Margins of Excision
def: "The edges of tissue removed in a surgery for assessment of the effectiveness of a surgical procedure in achieving the local control of a neoplasm and the adequacy of tumor removal. When the margin is negative or not involved by tumor (e.g., CANCER) it suggests all of the tumor has been removed by the surgery." [MESH:D000072662]
synonym: "Excision Margin" EXACT []
synonym: "Excision Margins" EXACT []
synonym: "Negative Surgical Margin" EXACT []
synonym: "Negative Surgical Margins" EXACT []
synonym: "Positive Surgical Margin" EXACT []
synonym: "Positive Surgical Margins" EXACT []
synonym: "Resection Margin" EXACT []
synonym: "Resection Margins" EXACT []
synonym: "Surgical Margin" EXACT []
synonym: "Surgical Margins" EXACT []
synonym: "Tumor-Free Margin" EXACT []
synonym: "Tumor Free Margins" EXACT []
xref: MESH:D000072662
xref: RDO:0016120
is_a: DOID:9002760 ! Morphological and Microscopic Findings

[Term]
id: DOID:9001776
name: Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
alt_id: MIM:600122
synonym: "Verloes syndrome" EXACT []
xref: MESH:C535693
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001777
name: Subdural Effusion
def: "Leakage and accumulation of CEREBROSPINAL FLUID in the subdural space which may be associated with an infectious process; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; INTRACRANIAL HYPOTENSION; and other conditions." [MESH:D013353]
synonym: "Subdural Cerebrospinal Fluid Effusion" EXACT []
synonym: "Subdural Cerebrospinal Fluid Leakage" EXACT []
synonym: "Subdural Hygroma" EXACT []
xref: EFO:1001429
xref: MESH:D013353
is_a: DOID:9006960 ! Perimeningeal Infections
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9001778
name: Zerres Rietschel Majewski Syndrome
xref: MESH:C536724
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001779
name: Lymphocytosis
def: "Excess of normal lymphocytes in the blood or in any effusion." [MESH:D008218]
synonym: "Lymphocytoses" EXACT []
xref: MESH:D008218
is_a: DOID:9001039 ! Leukocytosis

[Term]
id: DOID:9001781
name: Wilms Tumor 5
alt_id: MIM:601583
def: "Susceptibility to Wilms tumor can be caused by mutation in the POU6F2 gene on chromosome 7p14. (OMIM)" []
synonym: "bilateral radial aplasia with Wilms tumor" EXACT []
synonym: "Wilms Tumor and Radial Bilateral Aplasia" EXACT []
synonym: "WT5" EXACT []
synonym: "WTSL" EXACT []
xref: MESH:C536707
is_a: DOID:2154 ! nephroblastoma

[Term]
id: DOID:9001782
name: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
alt_id: MIM:613870
synonym: "HCAD" EXACT []
xref: MESH:C563939
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:11465 ! autonomic nervous system disease
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9001783
name: Sackey Sakati Aur Syndrome
synonym: "Aur syndrome" EXACT []
synonym: "Multiple dysmorphic features and pancytopenia" EXACT []
synonym: "Pancytopenia multiple congenital anomalies" EXACT []
xref: MESH:C537219
is_a: DOID:12450 ! pancytopenia
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001784
name: Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
alt_id: MIM:211370
synonym: "anodontia-hypotrichosis syndrome" EXACT []
synonym: "oculoosteocutaneous syndrome" EXACT []
xref: MESH:C565893
is_a: DOID:13714 ! anodontia
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:9001386 ! Albinism
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9001785
name: Shared Paranoid Disorder
def: "A condition in which closely related persons, usually in the same family, share the same delusions." [MESH:D012753]
synonym: "Folie a Deux" EXACT []
synonym: "Folie a Trois" EXACT []
synonym: "Shared Paranoid Disorders" EXACT []
synonym: "Shared Psychotic Disorder" EXACT []
synonym: "Shared Psychotic Disorders" EXACT []
xref: MESH:D012753
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:9001786
name: Immunodeficiency 112
def: "An autosomal recessive primary immunologic disorder with variable manifestations beginning in early childhood. Caused by homozygous mutation in the MAP3K14 gene on chromosome 17q21." [MIM:620449]
synonym: "IMD112" EXACT []
xref: MIM:620449
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2023-07-28T11:45:12Z

[Term]
id: DOID:9001788
name: Gingival Hemorrhage
def: "The flowing of blood from the marginal gingival area, particularly the sulcus, seen in such conditions as GINGIVITIS, marginal PERIODONTITIS, injury, and ASCORBIC ACID DEFICIENCY." [MESH:D005884]
synonym: "Gingival Hemorrhages" EXACT []
xref: MESH:D005884
xref: RDO:0003542
is_a: DOID:1483 ! gingival disease
is_a: DOID:9008806 ! Oral Hemorrhage

[Term]
id: DOID:9001789
name: Hypomelia Mullerian Duct Anomalies
alt_id: MIM:146160
synonym: "Hypomelia with Mullerian Duct Anomalies" EXACT []
synonym: "Limb-uterus syndrome" EXACT []
synonym: "Severe upper limb hypoplasia and Mullerian duct anomalies" EXACT []
xref: MESH:C537155
is_a: DOID:9004402 ! Congenital Upper Extremity Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001790
name: Long QT Syndrome 1/2
synonym: "LONG QT SYNDROME 1/2, DIGENIC" EXACT []
synonym: "LQT1/2, DIGENIC" EXACT []
xref: MESH:C566006
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:9001791
name: Puerperal Disorders
def: "Disorders or diseases associated with PUERPERIUM, the six-to-eight-week period immediately after PARTURITION in humans." [MESH:D011644]
synonym: "Puerperal Disorder" EXACT []
xref: EFO:0009683
xref: MESH:D011644
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9001792
name: Orofaciodigital Syndrome 12
synonym: "Moran-Barroso syndrome" EXACT []
synonym: "OFD12" EXACT []
synonym: "OFDS 12" EXACT []
synonym: "oral-facial-digital syndrome 12" EXACT []
synonym: "orofaciodigital syndrome type 12" EXACT []
synonym: "orofaciodigital syndrome XII" EXACT []
xref: MESH:C548034
is_a: DOID:4501 ! orofaciodigital syndrome

[Term]
id: DOID:9001793
name: Generalized Epilepsy
def: "Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)" [MESH:D004829]
synonym: "akinetic epilepsies" EXACT []
synonym: "Akinetic Epilepsy" EXACT []
synonym: "Atonic Epilepsies" EXACT []
synonym: "Atonic Epilepsy" EXACT []
synonym: "Convulsive Generalized Seizure Disorder" EXACT []
synonym: "EPILEPTIC ENCEPHALOPATHY" EXACT []
synonym: "Generalized Convulsive Epilepsies" EXACT []
synonym: "Generalized Convulsive Epilepsy" EXACT []
synonym: "Generalized Epilepsies" EXACT []
synonym: "Generalized Nonconvulsive Epilepsy" EXACT []
synonym: "Generalized Nonconvulsive Seizure Disorder" EXACT []
synonym: "GENERALIZED-ONSET SEIZURE" EXACT []
synonym: "Generalized Onset Seizure Disorder" EXACT []
synonym: "Generalized Seizure Disorder" EXACT []
synonym: "Generalized Seizure Disorders" EXACT []
synonym: "Symptomatic Generalized Epilepsy" EXACT []
synonym: "Tonic Epilepsies" EXACT []
synonym: "tonic epilepsy" EXACT []
xref: EFO:0005917
xref: MESH:D004829
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:9001794
name: Cholestasis with Gallstone, Ataxia, and Visual Disturbance
alt_id: MIM:214980
xref: MESH:C565856
is_a: DOID:13580 ! cholestasis
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9006113 ! Gallstones

[Term]
id: DOID:9001795
name: Lathyrism
def: "A paralytic condition of the legs caused by ingestion of lathyrogens, especially BETA-AMINOPROPIONITRILE or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus LATHYRUS." [MESH:D007842]
synonym: "Neurolathyrism" EXACT []
xref: MESH:D007842
is_a: DOID:9003189 ! Plant Poisoning

[Term]
id: DOID:9001796
name: Mesodermal Mixed Tumor
alt_id: RDO:0007103
def: "A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" [MESH:D018199]
synonym: "Mesodermal Mixed Tumors" EXACT []
xref: EFO:1001371
xref: MESH:D018199
is_a: DOID:1115 ! sarcoma
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:9001797
name: Inherited Thyroxine-Binding Globulin Deficiency
alt_id: RDO:0015900
synonym: "Tbg Deficiency" EXACT []
synonym: "TBG-PDJ" NARROW []
synonym: "THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE" NARROW []
synonym: "THYROXINE-BINDING GLOBULIN, VARIANT P" RELATED []
xref: MESH:C580199
is_a: DOID:50 ! thyroid gland disease
is_a: DOID:9005007 ! Thyroxine-Binding Globulin Deficiency

[Term]
id: DOID:9001798
name: Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant
xref: MESH:C567296
xref: MIM:115300
is_a: DOID:9008550 ! Vitamin A Deficiency
is_a: DOID:9969 ! carotenemia

[Term]
id: DOID:9001799
name: Hereditary Congenital Facial Paresis
alt_id: MESH:C563309
alt_id: RDO:0001953
alt_id: RDO:0012605
synonym: "Congenital Facial Palsy, Unilateral or Bilateral" EXACT []
xref: MESH:C536386
xref: MIM:PS601471
is_a: DOID:13934 ! facial paralysis
is_a: DOID:9008797 ! Facial Asymmetry

[Term]
id: DOID:9001800
name: IMAGAWA-MATSUMOTO SYNDROME
def: "A disease characterized by variable pre- and postnatal overgrowth; dysmorphic features including postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge; and variable musculoskeletal abnormalities." [MIM:618786]
synonym: "IMMAS" EXACT []
xref: MIM:618786
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
created_by: slaulede
creation_date: 2020-03-13T18:07:54Z

[Term]
id: DOID:9001801
name: Myopia 17, Autosomal Dominant
synonym: "MYOPIA 4" EXACT []
synonym: "MYP17" EXACT []
synonym: "MYP4" EXACT []
xref: MIM:608367
is_a: DOID:11830 ! myopia
created_by: rgd
creation_date: 2017-03-29T00:00:00Z

[Term]
id: DOID:9001802
name: Hereditary Hemorrhagic Telangiectasia, Type 4
alt_id: MIM:610655
synonym: "HHT4" EXACT []
xref: MESH:C565691
is_a: DOID:1270 ! hereditary hemorrhagic telangiectasia

[Term]
id: DOID:9001803
name: GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy
xref: MESH:C565544
xref: RDO:0014152
is_a: DOID:2750 ! glycogen storage disease IV
is_a: DOID:440 ! neuromuscular disease

[Term]
id: DOID:9001804
name: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES
def: "This is an autosomal recessive syndrome characterized by hypotonia in utero resulting in fetal akinesia with generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency and significant dysmorphic facial features." [MIM:619602]
synonym: "FARIMPD" EXACT []
xref: MIM:619602
is_a: DOID:0080918 ! polymicrogyria
is_a: DOID:10907 ! microcephaly
is_a: DOID:11162 ! respiratory failure
is_a: DOID:480 ! movement disease
is_a: DOID:9001487 ! Facies
created_by: slaulede
creation_date: 2022-02-04T17:43:48Z

[Term]
id: DOID:9001805
name: Short-Rib Thoracic Dysplasia 17 with or without Polydactyly
alt_id: RDO:9001730
synonym: "SRTD17" EXACT []
xref: MIM:617405
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
created_by: rgd
creation_date: 2017-06-26T00:00:00Z

[Term]
id: DOID:9001806
name: Connective Tissue Nevus
xref: MESH:C562737
xref: RDO:0012324
is_a: DOID:9002969 ! Nevus

[Term]
id: DOID:9001807
name: Retinoschisis of Fovea
alt_id: MIM:268080
synonym: "familial foveal retinoschisis" EXACT []
synonym: "foveal retinoschisis" EXACT []
xref: MESH:C538369
is_a: DOID:8465 ! retinoschisis

[Term]
id: DOID:9001808
name: SEDOHEPTULOKINASE DEFICIENCY
def: "An autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. (OMIM)" []
synonym: "ISOLATED SEDOHEPTULOKINASE DEFICIENCY" EXACT []
synonym: "SHPKD" EXACT []
xref: MIM:617213
xref: RDO:9001544
is_a: DOID:655 ! inherited metabolic disorder
created_by: rgd
creation_date: 2017-04-04T00:00:00Z

[Term]
id: DOID:9001809
name: Urinary Retention
def: "Inability to empty the URINARY BLADDER with voiding (URINATION)." [MESH:D016055]
xref: MESH:D016055
xref: RDO:0006936
is_a: DOID:9003919 ! Urination Disorders

[Term]
id: DOID:9001812
name: CONGENITAL DISORDER OF DEGLYCOSYLATION 2
def: "This disease is an autosomal recessive disorder with variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis." [MIM:619775]
synonym: "CDDG2" EXACT []
xref: MIM:619775
xref: MONDO:0030770
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9003697 ! Congenital disorder of deglycosylation
is_a: DOID:936 ! brain disease
created_by: slaulede
creation_date: 2022-04-22T12:18:12Z

[Term]
id: DOID:9001813
name: Alzheimer's Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology
alt_id: MIM:605055
synonym: "Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology" EXACT []
xref: MESH:C565728
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:9001814
name: NEUROOCULORENAL SYNDROME
def: "This disease is an autosomal recessive developmental disorder with highly variable clinical manifestations involving multiple organ systems. Brain imaging usually shows structural midline defects, including dysgenesis of the corpus callosum and hindbrain." [MIM:620305]
synonym: "NORS" EXACT []
xref: MIM:620305
is_a: DOID:557 ! kidney disease
is_a: DOID:9001020 ! Eye Manifestations
created_by: slaulede
creation_date: 2023-06-20T09:24:43Z

[Term]
id: DOID:9001815
name: Hypertrophy of Masticatory Muscles
alt_id: MIM:154850
synonym: "Masseter Muscle Hypertrophy" EXACT []
xref: MESH:C563600
is_a: DOID:9000040 ! Hypertrophy

[Term]
id: DOID:9001816
name: Epidermitis, Exudative, of Swine
def: "An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)" [MESH:D004818]
synonym: "Exudative Dermatitis of Swine" EXACT []
synonym: "Greasy Pig Disease" EXACT []
synonym: "Swine Exudative Dermatitides" EXACT []
synonym: "Swine Exudative Dermatitis" EXACT []
xref: MESH:D004818
xref: RDO:0005505
is_a: DOID:9008435 ! Swine Diseases

[Term]
id: DOID:9001817
name: Lopes Gorlin Syndrome
alt_id: MIM:600269
synonym: "Short tarsus absence of lower eyelashes" EXACT []
synonym: "Short Tarsus with Absence of Lower Eyelashes" EXACT []
xref: MESH:C537036
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001818
name: Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive
alt_id: MIM:256855
synonym: "Charcot-Marie-Tooth Disease with Excessive Myelin Folding, Autosomal Recessive" EXACT []
xref: MESH:C564947
is_a: DOID:2477 ! motor peripheral neuropathy

[Term]
id: DOID:9001820
name: Pulmonary Arterial Hypertension
def: "A progressive rare pulmonary disease characterized by high blood pressure in the PULMONARY ARTERY." [MESH:D000081029]
synonym: "Drug- or toxin-induced pulmonary arterial hypertension" NARROW []
synonym: "PAH" EXACT []
synonym: "Pulmonary arterial hypertension associated with chronic hemolytic anemia" NARROW []
synonym: "PULMONARY ARTERIAL HYPERTENSION ASSOCIATED WITH CONGENITAL HEART DISEASE" NARROW []
synonym: "Pulmonary arterial hypertension associated with HIV infection" NARROW []
synonym: "Pulmonary arterial hypertension associated with portal hypertension" NARROW []
synonym: "Pulmonary arterial hypertension associated with schistosomiasis" NARROW []
xref: EFO:0001361
xref: EFO:0001362
xref: EFO:0009054
xref: EFO:0009192
xref: EFO:0009194
xref: EFO:0009195
xref: EFO:0009197
xref: EFO:0009198
xref: MESH:D000081029
is_a: DOID:6432 ! pulmonary hypertension
created_by: slaulede
creation_date: 2020-02-07T12:09:22Z

[Term]
id: DOID:9001821
name: Psychogenic Polydipsia
def: "A clinical disorder characterized by excessive fluid intake (polydipsia); HYPONATREMIA; and POLYURIA in SCHIZOPHRENIA and other psychiatric disorders. Impaired water metabolism in psychogenic polydipsia can result in WATER INTOXICATION." [MESH:D059607]
synonym: "Primary Polydipsia" EXACT []
synonym: "Primary Polydipsias" EXACT []
synonym: "Psychogenic Polydipsias" EXACT []
xref: MESH:D059607
is_a: DOID:9006727 ! Polydipsia

[Term]
id: DOID:9001822
name: Acquired Protein S Deficiency
xref: MESH:C567077
xref: RDO:0015254
is_a: DOID:2451 ! protein S deficiency

[Term]
id: DOID:9001823
name: Commotio Cordis
def: "A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation." [MESH:D056104]
synonym: "Cardiac Concussion" EXACT []
synonym: "Cardiac Concussions" EXACT []
xref: EFO:1001781
xref: MESH:D056104
is_a: DOID:9000064 ! Cardiac Arrhythmias
is_a: DOID:9003131 ! Myocardial Contusions

[Term]
id: DOID:9001824
name: Noonan Syndrome 14
def: "A recessive developmental disorder within the RASopathy clinical spectrum. Caused by homozygous mutation in the SPRED2 gene on chromosome 2p14." [MIM:619745]
synonym: "NS14" EXACT []
xref: MIM:619745
xref: MONDO:0030679
is_a: DOID:3490 ! Noonan syndrome
created_by: mtutaj
creation_date: 2022-02-11T14:11:52Z

[Term]
id: DOID:9001826
name: Congenital Universal Muscular Hypoplasia of Krabbe
alt_id: MIM:159100
xref: MESH:C563553
is_a: DOID:0080000 ! muscular disease

[Term]
id: DOID:9001827
name: Critical Illness
def: "A disease or state in which death is possible or imminent." [MESH:D016638]
synonym: "Critical Illnesses" EXACT []
synonym: "Critically Ill" EXACT []
xref: MESH:D016638
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9001828
name: Cardiac Form of Generalized Glycogenosis
alt_id: RDO:0002540
synonym: "cardiomegalia glycogenica diffusa" EXACT []
synonym: "generalized glycogenosis, cardiac form" EXACT []
xref: MESH:C536839
is_a: DOID:2752 ! glycogen storage disease II

[Term]
id: DOID:9001829
name: Cerebrovascular Trauma
def: "Penetrating and nonpenetrating traumatic injuries to an extracranial or intracranial blood vessel that supplies the brain. This includes the CAROTID ARTERIES; VERTEBRAL ARTERIES; MENINGEAL ARTERIES; CEREBRAL ARTERIES; veins, and venous sinuses." [MESH:D020214]
synonym: "Brain Vascular Injury" EXACT []
synonym: "Brain Vascular Trauma" EXACT []
synonym: "Vascular Brain Injuries" EXACT []
synonym: "vascular brain injury" EXACT []
synonym: "Vascular Traumas, Brain" EXACT []
xref: EFO:0006791
xref: MESH:D020214
xref: RDO:0007347
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9006062 ! Nervous System Trauma

[Term]
id: DOID:9001830
name: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
synonym: "Gonadal Dysgenesis, Xy Female Type" EXACT []
xref: MESH:C567574
is_a: DOID:14448 ! 46,XY sex reversal

[Term]
id: DOID:9001831
name: Lichen Sclerosus et Atrophicus
alt_id: MIM:151590
def: "A chronic inflammatory mucocutaneous disease usually affecting the female genitalia (VULVAR LICHEN SCLEROSUS) and BALANITIS XEROTICA OBLITERANS in males. It is also called white spot disease and Csillag's disease." [MESH:D018459]
synonym: "lichen scleroses" EXACT []
synonym: "Lichen Sclerosis" EXACT []
synonym: "Lichen Sclerosis et Atrophicus" EXACT []
synonym: "lichen sclerosus" EXACT []
xref: MESH:D018459
is_a: DOID:8574 ! lichen disease

[Term]
id: DOID:9001832
name: Uterine Inertia
def: "Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony." [MESH:D014593]
synonym: "Uterine Atony" EXACT []
xref: EFO:1001863
xref: MESH:D014593
is_a: DOID:9008893 ! Dystocia

[Term]
id: DOID:9001833
name: Myopia 23, Autosomal Recessive
alt_id: RDO:9001112
synonym: "myopia-23" EXACT []
synonym: "MYP23" EXACT []
synonym: "RARE ISOLATED MYOPIA" EXACT []
xref: MIM:615431
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9001834
name: Peritoneal Neoplasms
alt_id: RDO:0006115
def: "Tumors or cancer of the PERITONEUM." [MESH:D010534]
synonym: "peritoneal neoplasm" EXACT []
xref: EFO:1001100
xref: MESH:D010534
is_a: DOID:9003078 ! Abdominal Neoplasms
is_a: DOID:9004351 ! Digestive System Neoplasms
is_a: DOID:9006175 ! Peritoneal Diseases

[Term]
id: DOID:9001835
name: Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features
alt_id: MIM:613124
xref: MESH:C567731
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008386 ! Hydrops Fetalis

[Term]
id: DOID:9001836
name: Cardiac Conduction Defect
xref: EFO:0005304
xref: EFO:1001497
xref: MIM:115080
is_a: DOID:0050451 ! Brugada syndrome

[Term]
id: DOID:9001837
name: Transfusion Reaction
def: "Complications of BLOOD TRANSFUSION." [MESH:D065227]
synonym: "Acute Hemolytic Transfusion Reaction" EXACT []
synonym: "Delayed Hemolytic Transfusion Reaction" EXACT []
synonym: "DOMBROCK BLOOD GROUP" RELATED []
synonym: "DOMBROCK-NULL PHENOTYPE" RELATED []
synonym: "Hemolytic Transfusion Reaction" EXACT []
synonym: "Hemolytic Transfusion Reactions" EXACT []
synonym: "Transfusion Reactions" EXACT []
xref: MESH:D065227
xref: RDO:0015967
is_a: DOID:2914 ! immune system disease
is_a: DOID:74 ! hematopoietic system disease

[Term]
id: DOID:9001839
name: Cleidocranial Dysplasia, Recessive Form
alt_id: MIM:216330
xref: MESH:C565843
is_a: DOID:13994 ! cleidocranial dysplasia

[Term]
id: DOID:9001840
name: Immunodeficiency 78 with Autoimmunity and Developmental Delay
def: "An autosomal recessive systemic disorder characterized by onset of symptoms in early childhood. Caused by homozygous or compound heterozygous mutation in the TPP2 gene on chromosome 13q33. (OMIM)" []
synonym: "IMD78" EXACT []
synonym: "TPP2 deficiency" EXACT []
xref: MIM:619220
is_a: DOID:417 ! autoimmune disease
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2021-03-16T15:11:46Z

[Term]
id: DOID:9001841
name: Syphilitic Myelopathy (tabes dorsalis)
xref: MESH:C536776
is_a: DOID:10027 ! tabes dorsalis

[Term]
id: DOID:9001842
name: Kaler Garrity Stern Syndrome
alt_id: MIM:259690
synonym: "Osteopenia and sparse hair" EXACT []
synonym: "Osteopenia mental retardation sparse hair" EXACT []
xref: MESH:C537706
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:421 ! hair disease
is_a: DOID:9002278 ! Metabolic Bone Diseases

[Term]
id: DOID:9001843
name: Selective Tooth Agenesis 8
synonym: "STHAG8" EXACT []
xref: MIM:617073
is_a: DOID:0050591 ! tooth agenesis

[Term]
id: DOID:9001844
name: Angular Pregnancy
def: "A rare type of abnormal pregnancy in which EMBRYO IMPLANTATION occurs at a lateral angle of the UTERUS, medial to the uterotubal junction and the ROUND LIGAMENT OF UTERUS." [MESH:D065170]
synonym: "Angular Pregnancies" EXACT []
xref: MESH:D065170
is_a: DOID:0060329 ! ectopic pregnancy

[Term]
id: DOID:9001845
name: Hypogonadotropic Hypogonadism 25 with Anosmia
synonym: "HH25" EXACT []
xref: MIM:618841
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:9000378 ! Congenital Anosmia
created_by: slaulede
creation_date: 2020-04-02T17:24:03Z

[Term]
id: DOID:9001846
name: Schizoaffective Disorder, Depressive Type
alt_id: RDO:9000393
synonym: "Schizophreniform psychosis, depressive type" EXACT []
is_a: DOID:5418 ! schizoaffective disorder
created_by: rgd
creation_date: 2016-02-11T00:00:00Z

[Term]
id: DOID:9001847
name: Unilateral Breast Neoplasms
def: "Tumors or cancer found specifically in one human BREAST, but not in both." [MESH:D000069584]
synonym: "Breast Neoplasm, Unilateral" EXACT []
synonym: "Left Sided Breast Cancer" EXACT []
synonym: "left-sided breast cancers" EXACT []
synonym: "Left Sided Breast Neoplasm" EXACT []
synonym: "Left Sided Breast Neoplasms" EXACT []
synonym: "Right Sided Breast Cancer" EXACT []
synonym: "Right-Sided Breast Cancers" EXACT []
synonym: "Right Sided Breast Neoplasm" EXACT []
synonym: "right sided breast neoplasms" EXACT []
synonym: "unilateral breast cancer" EXACT []
synonym: "unilateral breast cancers" EXACT []
xref: MESH:D000069584
is_a: DOID:9008939 ! Breast Neoplasms

[Term]
id: DOID:9001848
name: Extensor Tendons of Fingers, Anomalous Insertion of
alt_id: MIM:187390
xref: MESH:C566068
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9001851
name: Craniosynostosis, Philadelphia Type
xref: MESH:C563368
xref: RDO:0012643
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:9001852
name: Stomatodynia
xref: MESH:C531639
xref: RDO:0000065
is_a: DOID:4331 ! burning mouth syndrome

[Term]
id: DOID:9001855
name: Hereditary Prosopagnosia
alt_id: MIM:610382
synonym: "congenital prosopagnosia" EXACT []
synonym: "face blindness" EXACT []
xref: MESH:C537242
is_a: DOID:4970 ! prosopagnosia

[Term]
id: DOID:9001856
name: Spondylocostal Dysostosis 4, Autosomal Dominant
alt_id: RDO:0013874
synonym: "Spondylocostal Dysplasia, Dominant Form" EXACT []
synonym: "Spondylothoracic Dysostosis, Autosomal Dominant" EXACT []
xref: MESH:C565149
is_a: DOID:0050568 ! spondylocostal dysostosis

[Term]
id: DOID:9001857
name: Intestinal Type Adenocarcinoma
def: "This is an adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." [NCI:C4126]
synonym: "Adenocarcinoma, intestinal type" EXACT []
synonym: "Carcinoma, intestinal type" EXACT []
synonym: "Intestinal-Type Adenocarcinoma" EXACT []
synonym: "Intestinal Type Carcinoma" EXACT []
xref: EFO:1000304
is_a: DOID:299 ! adenocarcinoma
created_by: slaulede
creation_date: 2023-02-09T15:56:09Z

[Term]
id: DOID:9001858
name: Lathosterolosis
synonym: "3-beta-hydroxysteroid-delta(5)-desaturase deficiency" EXACT []
synonym: "Deficiency of 3-beta-hydroxysteroid-delta(5)-desaturase" EXACT []
synonym: "SC5D deficiency" EXACT []
synonym: "Sterol C5-Desaturase Deficiency" EXACT []
xref: MESH:C537880
xref: MIM:607330
xref: MONDO:0011816
is_a: DOID:1701 ! steroid inherited metabolic disorder

[Term]
id: DOID:9001860
name: Thrombocytopenia Absent Ulnar Syndrome
xref: MESH:C536944
xref: RDO:0002672
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9001861
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
def: "A disease characterized by onset of hypotonia and variably impaired global developmental delay in infancy." [MIM:618748]
synonym: "IDDHBA" EXACT []
xref: MIM:618748
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2020-02-13T17:58:06Z

[Term]
id: DOID:9001862
name: Crigler Najjar Syndrome, Type 2
alt_id: MIM:606785
synonym: "Crigler-Najjar Syndrome, Type II" EXACT []
synonym: "HBLRCN2" EXACT []
synonym: "HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II" EXACT []
xref: MESH:C536213
xref: RDO:0001695
is_a: DOID:3803 ! Crigler-Najjar syndrome

[Term]
id: DOID:9001863
name: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES
synonym: "MENDENHALL SYNDROME" EXACT []
synonym: "PINEAL HYPERPLASIA AND DIABETES MELLITUS SYNDROME" EXACT []
synonym: "RABSON-MENDENHALL SYNDROME" EXACT []
xref: MIM:262190
is_a: DOID:9002221 ! Hyperplasia
is_a: DOID:9351 ! diabetes mellitus
created_by: slaulede
creation_date: 2019-09-16T18:17:12Z

[Term]
id: DOID:9001864
name: Chudley-Rozdilsky Syndrome
alt_id: MIM:253320
synonym: "Chudley syndrome" EXACT []
synonym: "MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM" EXACT []
xref: MESH:C535458
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:3529 ! congenital myopathy 1A

[Term]
id: DOID:9001865
name: Myeloid Leukemia, Accelerated Phase
def: "The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." [MESH:D015465]
synonym: "Leukemia, Myelogenous, Aggressive Phase" EXACT []
synonym: "Leukemia, Myeloid, Aggressive-Phase" EXACT []
synonym: "Myelogenous Leukemia, Chronic, Aggressive Phase" EXACT []
synonym: "Myeloid Leukemia, Chronic, Accelerated Phase" EXACT []
synonym: "Myeloid Leukemia, Chronic, Aggressive Phase" EXACT []
xref: EFO:1001755
xref: MESH:D015465
is_a: DOID:8552 ! chronic myeloid leukemia

[Term]
id: DOID:9001866
name: Pyogenic Granuloma
def: "A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma." [MESH:D017789]
synonym: "Angiogranuloma" EXACT []
synonym: "Angiogranulomas" EXACT []
synonym: "Granuloma Pyogenicum" EXACT []
synonym: "Granuloma Telangiecticum" EXACT []
synonym: "Lobular Capillary Hemangioma" EXACT []
xref: EFO:0010830
xref: MESH:D017789
is_a: DOID:9002019 ! Granuloma

[Term]
id: DOID:9001867
name: Occupational Injuries
def: "Injuries sustained from incidents in the course of work-related activities." [MESH:D060051]
synonym: "Occupational Injury" EXACT []
xref: MESH:D060051
xref: RDO:0010032
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9001868
name: Short QT Syndrome 3
alt_id: MIM:609622
synonym: "SHORT QT SYNDROME TYPE 3" EXACT []
synonym: "SQT3" EXACT []
xref: MESH:C566504
is_a: DOID:0050793 ! short QT syndrome
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9001869
name: Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia
alt_id: MIM:608624
xref: MESH:C563896
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9001870
name: Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay
def: "Characterized by evidence of osteopenia or osteoporosis, with recurrent fractures following minor trauma in some patients. Developmental delay is variable. Caused by heterozygous mutation in the COPB2 gene on chromosome 3q23." [MIM:619884]
synonym: "COPB2-RELATED CONDITION" BROAD []
synonym: "OPDD" EXACT []
xref: MIM:619884
is_a: DOID:11476 ! osteoporosis
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2022-05-31T07:44:09Z

[Term]
id: DOID:9001871
name: Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant
xref: MESH:C538534
xref: RDO:0004478
is_a: DOID:3614 ! Kallmann syndrome

[Term]
id: DOID:9001872
name: Ulna Fractures
def: "Fractures of the larger bone of the forearm." [MESH:D014458]
synonym: "Ulna Fracture" EXACT []
xref: EFO:0003950
xref: MESH:D014458
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9004279 ! Forearm Injuries

[Term]
id: DOID:9001873
name: Camptodactyly Taurinuria
synonym: "Camptodactyly with Taurinuria" EXACT []
xref: MESH:C537972
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9001874
name: Pseudouridinuria and Mental Defect
alt_id: MIM:264500
xref: MESH:C564864
is_a: DOID:1059 ! intellectual disability
is_a: DOID:653 ! purine-pyrimidine metabolic disorder

[Term]
id: DOID:9001875
name: Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency
alt_id: MIM:200900
synonym: "SLSD with SCID" EXACT []
synonym: "so-called achondroplasia and severe combined immunodeficiency" EXACT []
xref: MESH:C565984
is_a: DOID:4480 ! achondroplasia
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:9001876
name: Bardet-Biedl Syndrome 2/4, Digenic
xref: RDO:9001189
is_a: DOID:0110124 ! Bardet-Biedl syndrome 2
is_a: DOID:0110126 ! Bardet-Biedl syndrome 4
created_by: rgd
creation_date: 2016-06-08T00:00:00Z

[Term]
id: DOID:9001877
name: Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly
alt_id: MIM:133750
xref: MESH:C565032
is_a: DOID:10907 ! microcephaly
is_a: DOID:9002737 ! Premature Cardiac Complexes
is_a: DOID:9003984 ! Hyperpigmentation
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001878
name: Disorders of Environmental Origin
def: "Disorders caused by external forces rather than by physiologic dysfunction or by pathogens." [MESH:D007280]
xref: MESH:D007280
is_a: DOID:4 ! disease

[Term]
id: DOID:9001879
name: Androgenetic Alopecia 3
alt_id: MIM:612421
alt_id: RDO:0015425
synonym: "AGA3" EXACT []
xref: MESH:C567317
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9001880
name: Testicular Microlithiasis
alt_id: MIM:610441
xref: MESH:C566478
is_a: DOID:2519 ! testicular disease
is_a: DOID:9005602 ! Calculi

[Term]
id: DOID:9001881
name: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME
def: "This is is a multisystem disease with possible issues including cataract, developmental delay, liver dysfunction, microcytic anemia, and cerebellar hypoplasia." [MIM:618805]
synonym: "TKFCD" EXACT []
xref: MIM:618805
is_a: DOID:83 ! cataract
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2021-11-01T12:15:01Z

[Term]
id: DOID:9001882
name: Macleod Fraser syndrome
xref: MESH:C537715
xref: RDO:0003603
is_a: DOID:225 ! syndrome
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:9001884
name: Adenolymphoma
def: "A benign tumor characterized histologically by tall columnar epithelium within a lymphoid tissue stroma. It is usually found in the salivary glands, especially the parotid." [MESH:D000235]
synonym: "adenolymphomas" EXACT []
synonym: "Papillary Cystadenoma Lymphomatosum" EXACT []
synonym: "Warthin Tumor" EXACT []
xref: EFO:1000625
xref: MESH:D000235
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:9001885
name: Nuclear Type Mitochondrial Complex I Deficiency 38
def: "Characterized by bilateral synchronous or asynchronous vision loss with variable recovery of visual acuity. Caused by homozygous mutation in the DNAJC30 gene on chromosome 7q11. (OMIM)" []
synonym: "Leber hereditary optic neuropathy, autosomal recessive" EXACT []
synonym: "Leber hereditary optic neuropathy, autosomal recessive 1" EXACT []
synonym: "LHONAR" EXACT []
synonym: "LHONAR1" EXACT []
synonym: "MC1DN38" EXACT []
xref: MIM:619382
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
is_a: DOID:705 ! Leber hereditary optic neuropathy
created_by: mtutaj
creation_date: 2021-06-23T10:49:02Z

[Term]
id: DOID:9001887
name: Hyperferritinemia
def: "A finding of elevated serum level of FERRITIN. It is often associated with IRON OVERLOAD, repeated blood transfusions, malignancy, iron metabolic syndromes, virus infection, liver injury or dysfunction, and renal failure. Hyperferritinemia in iron metabolic syndromes (e.g., Still's diseases, and HEMOPHAGOCYTIC SYNDROME) is referred to as dysmetabolic hyperferritinemia. (MESH)" []
synonym: "Dysmetabolic Hyperferritinemia" EXACT []
synonym: "Elevated Serum Ferritin" EXACT []
synonym: "Raised Serum Ferritin" EXACT []
synonym: "Ultrahyperferritinemia" EXACT []
xref: MESH:D000085583
is_a: DOID:2351 ! iron metabolism disease
created_by: mtutaj
creation_date: 2021-02-19T15:30:08Z

[Term]
id: DOID:9001888
name: Hypothalamic Obesity
def: "Involves intractable weight gain after hypothalamic damage" [PMID:19202508]
is_a: DOID:1931 ! hypothalamic disease
created_by: slaulede
creation_date: 2018-10-02T13:51:06Z

[Term]
id: DOID:9001889
name: Spondyloepimetaphyseal Dysplasia with Abnormal Dentition
alt_id: MIM:601668
alt_id: RDO:0014949
synonym: "SEMDAD" EXACT []
xref: MESH:C566644
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9001890
name: Auditory Neuropathy
synonym: "Auditory dys-synchrony" EXACT []
synonym: "Familial auditory neuropathy" EXACT []
synonym: "Progressive auditory neuropathy" EXACT []
xref: MESH:C538268
xref: MIM:PS609129
is_a: DOID:0060140 ! cortical deafness

[Term]
id: DOID:9001891
name: Atrial Septal Defect, Secundum Type
xref: MESH:C566241
is_a: DOID:1882 ! atrial heart septal defect

[Term]
id: DOID:9001892
name: Viljoen Kallis Voges Syndrome
xref: MESH:C536349
xref: RDO:0001900
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9001893
name: Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium
xref: MESH:C535790
xref: RDO:0001097
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001895
name: Immunoglobulin A Deficiency 2
alt_id: MIM:609529
synonym: "IGAD2" EXACT []
synonym: "Iga, selective deficiency of, taci-related" EXACT []
synonym: "Immunoglobulin a, selective deficiency of, taci-related" EXACT []
xref: MESH:C536291
xref: RDO:0001815
is_a: DOID:0060025 ! immunoglobulin alpha deficiency

[Term]
id: DOID:9001896
name: Cervical Vertebral Dysplasia
alt_id: MIM:118005
xref: MESH:C566140
is_a: DOID:0080006 ! bone development disease

[Term]
id: DOID:9001897
name: MOTOR NEURON ATROPHY
def: "Wasting and degeneration of motor neurons causing retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue." [HP:0007373, MP:0000938]
synonym: "loss of motor neurons" EXACT []
synonym: "motoneuron degeneration" EXACT []
synonym: "Motor neuron degeneration" EXACT []
is_a: DOID:231 ! motor neuron disease
created_by: slaulede
creation_date: 2020-11-03T15:22:18Z

[Term]
id: DOID:9001898
name: Aughton Syndrome
alt_id: MIM:221950
synonym: "Dextrocardia, microphthalmia, cleft palate, and mental retardation" EXACT []
synonym: "Dextrocardia with unusual facies and microphthalmia" EXACT []
xref: MESH:C538269
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10629 ! microphthalmia
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9565 ! dextrocardia

[Term]
id: DOID:9001899
name: Triglyceride Storage Disease, Type I
alt_id: MIM:190420
xref: MESH:C566031
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:9001900
name: Arnold-Chiari Malformation
alt_id: MIM:118420
alt_id: MIM:207950
def: "A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)" [MESH:D001139]
synonym: "Arnold Chiari Deformity" EXACT []
synonym: "Arnold Chiari Malformation, Type 1" EXACT []
synonym: "Arnold Chiari Malformation, Type 2" EXACT []
synonym: "Arnold Chiari Malformation, Type 3" EXACT []
synonym: "Arnold Chiari Malformation, Type 4" EXACT []
synonym: "Arnold Chiari Malformation Type I" EXACT []
synonym: "Arnold Chiari Malformation Type II" EXACT []
synonym: "Arnold Chiari Malformation Type III" EXACT []
synonym: "Arnold Chiari Malformation Type IV" EXACT []
synonym: "Arnold Chiari Syndrome" EXACT []
synonym: "Chiari Malformation Type 2" EXACT []
synonym: "Chiari Malformation Type I" EXACT []
synonym: "Chiari Malformation Type II" EXACT []
xref: MESH:D001139
xref: NCI:C84570
is_a: DOID:0080074 ! neural tube defect

[Term]
id: DOID:9001901
name: Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia
alt_id: MIM:113610
xref: MESH:C566188
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:9002598 ! Spastic Paraparesis
is_a: DOID:9007722 ! Myoclonus

[Term]
id: DOID:9001902
name: cutaneous nodular amyloidosis
def: "This disease is the rarest form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis." [ORPHA:137810]
synonym: "PLCNA" EXACT []
synonym: "primary localized cutaneous nodular amyloidosis" EXACT []
xref: EFO:1001882
is_a: DOID:0050639 ! primary cutaneous amyloidosis
created_by: slaulede
creation_date: 2022-09-23T15:14:34Z

[Term]
id: DOID:9001903
name: Petty Laxova Wiedemann Syndrome
xref: MESH:C537886
is_a: DOID:225 ! syndrome
is_a: DOID:3911 ! progeria
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001904
name: Sinus Histiocytosis
alt_id: RDO:0000487
def: "Benign, non-Langerhans-cell, histiocytic proliferative disorder that primarily affects the lymph nodes. It is often referred to as sinus histiocytosis with massive lymphadenopathy." [MESH:D015618]
synonym: "Destombes Rosai Dorfman Syndrome" EXACT []
synonym: "Rosai Dorfman Disease" EXACT []
synonym: "Sinus Histiocytoses" EXACT []
synonym: "Sinus Histiocytosis with Massive Lymphadenopathy" EXACT []
xref: MESH:D015618
is_a: DOID:4330 ! non-Langerhans-cell histiocytosis

[Term]
id: DOID:9001905
name: Hereditary Motor and Sensory Neuropathy, Okinawa Type
alt_id: MIM:604484
synonym: "hereditary motor and sensory neuropathy, proximal type" EXACT []
synonym: "HMSNO" EXACT []
synonym: "HMSNP" EXACT []
xref: MESH:C535717
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2

[Term]
id: DOID:9001906
name: Hereditary Hemorrhagic Telangiectasia, Type 5
synonym: "HHT5" EXACT []
xref: MIM:615506
is_a: DOID:1270 ! hereditary hemorrhagic telangiectasia

[Term]
id: DOID:9001907
name: Spastic Paraplegia, Optic Atrophy, and Dementia
alt_id: MIM:182830
xref: MESH:C566679
is_a: DOID:1307 ! dementia
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:9001909
name: Diaphragmatic Hernia 4
def: "An autosomal recessive congenital anomaly syndrome characterized by the presence of diaphragmatic hernia or eventration apparent at birth. Caused by compound heterozygous mutation in the ALDH1A2 gene on chromosome 15q21." [MIM:620025]
synonym: "Diaphragmatic hernia 4, with cardiovascular defects" EXACT []
synonym: "DIH4" EXACT []
xref: MIM:620025
is_a: DOID:3827 ! congenital diaphragmatic hernia
created_by: mtutaj
creation_date: 2022-09-06T09:21:20Z

[Term]
id: DOID:9001910
name: Progressive Familial Intrahepatic Cholestasis 12
def: "A disease characterized by neonatal-onset jaundice and conjugated hyperbilirubinemia, associated with intense pruritus. Caused by homozygous or compound heterozygous mutation in the VPS33B gene on chromosome 15q26." [MIM:620010]
synonym: "CHOLESTASIS, ISOLATED LOW-GGT" EXACT []
synonym: "PFIC12" EXACT []
xref: MIM:620010
is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis
created_by: mtutaj
creation_date: 2022-08-22T09:32:38Z

[Term]
id: DOID:9001911
name: Craniosynostosis and Dental Anomalies
synonym: "craniosynostosis-dental anomalies" EXACT []
synonym: "CRSDA" EXACT []
synonym: "Kreiborg-Pakistani syndrome" EXACT []
xref: MIM:614188
xref: MONDO:0013615
xref: ORDO:284149
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9001912
name: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis
alt_id: MIM:613075
synonym: "MACS syndrome" EXACT []
synonym: "RIN2-RELATED CONDITION" EXACT []
synonym: "tall forehead, sparse hair, skin hyperextensibility, and scoliosis" EXACT []
xref: MESH:C567770
is_a: DOID:0060249 ! scoliosis
is_a: DOID:3144 ! cutis laxa
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9001913
name: Soft Tissue Injuries
def: "Injuries of tissue other than bone. The concept is usually general and does not customarily refer to internal organs or viscera. It is meaningful with reference to regions or organs where soft tissue (muscle, fat, skin) should be differentiated from bones or bone tissue, as 'soft tissue injuries of the hand'." [MESH:D017695]
synonym: "Soft Tissue Injury" EXACT []
xref: MESH:D017695
xref: RDO:0007069
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9001914
name: Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa
alt_id: MIM:610319
xref: MESH:C537610
is_a: DOID:0060249 ! scoliosis
is_a: DOID:0080006 ! bone development disease
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001915
name: Short Stature with Nonspecific Skeletal Abnormalities
synonym: "SNSK" EXACT []
xref: MIM:616255
xref: MONDO:0014551
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
is_a: DOID:9007661 ! Dwarfism
created_by: rgd
creation_date: 2017-04-06T00:00:00Z

[Term]
id: DOID:9001916
name: Fetal Death
def: "Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH." [MESH:D005313]
synonym: "Fetal Deaths" EXACT []
synonym: "Fetal Demise" EXACT []
synonym: "Fetal Mummification" EXACT []
xref: MESH:D005313
xref: RDO:0004621
is_a: DOID:9000543 ! Death
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9001917
name: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA
alt_id: MIM:618195
def: "A disease characterized by mild to moderate intellectual disability and typical features of RP." [MIM:618195]
synonym: "IDDRP" EXACT []
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
created_by: slaulede
creation_date: 2020-01-09T18:17:51Z

[Term]
id: DOID:9001918
name: Exostoses of Heel
alt_id: MIM:133600
xref: MESH:C563167
is_a: DOID:206 ! hereditary multiple exostoses

[Term]
id: DOID:9001919
name: Vascular Neoplasms
def: "Neoplasms located in the vasculature system, such as ARTERIES and VEINS. They are differentiated from neoplasms of vascular tissue (NEOPLASMS, VASCULAR TISSUE), such as ANGIOFIBROMA or HEMANGIOMA." [MESH:D019043]
synonym: "Vascular Neoplasm" EXACT []
xref: MESH:D019043
xref: RDO:0002750
is_a: DOID:178 ! vascular disease
is_a: DOID:9007429 ! Soft Tissue Neoplasms

[Term]
id: DOID:9001920
name: Microphthalmia/Coloboma 9
synonym: "isolated microphthalmia with coloboma 9" EXACT []
synonym: "MCOPC9" EXACT []
synonym: "MCOPCB9" EXACT []
synonym: "MCOPS15" NARROW []
synonym: "microphthalmia, syndromic 15" NARROW []
xref: MIM:615145
is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma

[Term]
id: DOID:9001921
name: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME
def: "This disease is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs)." [MIM:619858]
synonym: "AIPCS" EXACT []
synonym: "DNASE2-RELATED CONDITION" EXACT []
xref: MIM:619858
is_a: DOID:12450 ! pancytopenia
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: slaulede
creation_date: 2022-06-10T12:25:41Z

[Term]
id: DOID:9001922
name: Microspherophakia with Hernia
alt_id: MIM:157150
xref: MESH:C537468
is_a: DOID:0060320 ! inguinal hernia
is_a: DOID:9001251 ! Microspherophakia
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001923
name: Foveal Hypoplasia
synonym: "Isolated Foveal Hypoplasia" EXACT []
xref: MESH:C565005
xref: MIM:PS136520
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:9001924
name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
def: "This disease is characterized by severe short stature with marked rhizomelic shortening of the limbs, platyspondyly, and large hands and feet relative to height." [MIM:619598]
synonym: "Ain-Naz type of rhizomelic dysplasia" EXACT []
synonym: "RHZDAN" EXACT []
xref: MIM:619598
is_a: DOID:0080006 ! bone development disease
created_by: slaulede
creation_date: 2022-02-14T15:35:54Z

[Term]
id: DOID:9001925
name: Fecal Impaction
def: "Formation of a firm impassable mass of stool in the RECTUM or distal COLON." [MESH:D005244]
synonym: "Fecalith" EXACT []
synonym: "Impacted Feces" EXACT []
xref: MESH:D005244
is_a: DOID:8437 ! intestinal obstruction

[Term]
id: DOID:9001926
name: Dilated Cardiomyopathy 2I
def: "A disease characterized by early-onset severe congestive heart failure. Caused by homozygous mutation in the CAP2 gene on chromosome 6p22." [MIM:620462]
synonym: "CMD2I" EXACT []
xref: MIM:620462
is_a: DOID:12930 ! dilated cardiomyopathy
created_by: mtutaj
creation_date: 2023-08-04T09:57:15Z

[Term]
id: DOID:9001927
name: Dentin Dysplasia with Sclerotic Bones
alt_id: MIM:125440
synonym: "dentin dysplasia, sclerotic bones" EXACT []
xref: MESH:C538213
is_a: DOID:701 ! dentin dysplasia

[Term]
id: DOID:9001928
name: osteogenesis imperfecta type 22
def: "Osteogenesis imperfecta caused by homozygous mutation in the CCDC134 on chromosome 22q13." [MIM:619795]
synonym: "OI22" EXACT []
synonym: "osteogenesis imperfecta type XXII" EXACT []
xref: MIM:619795
is_a: DOID:12347 ! osteogenesis imperfecta
created_by: mtutaj
creation_date: 2022-03-24T10:50:48Z

[Term]
id: DOID:9001929
name: Hypoglossal Nerve Injuries
def: "Traumatic injuries to the HYPOGLOSSAL NERVE." [MESH:D061228]
synonym: "Cranial Nerve XII Injury" EXACT []
synonym: "Hypoglossal Nerve Avulsion" EXACT []
synonym: "Hypoglossal Nerve Avulsions" EXACT []
synonym: "Hypoglossal Nerve Contusion" EXACT []
synonym: "Hypoglossal Nerve Contusions" EXACT []
synonym: "Hypoglossal Nerve Injury" EXACT []
synonym: "Hypoglossal Nerve Transection" EXACT []
synonym: "Hypoglossal Nerve Transections" EXACT []
synonym: "Hypoglossal Nerve Trauma" EXACT []
synonym: "Hypoglossal Nerve Traumas" EXACT []
synonym: "Traumatic Hypoglossal Neuropathies" EXACT []
synonym: "Traumatic Hypoglossal Neuropathy" EXACT []
synonym: "Traumatic Twelfth-Nerve Palsies" EXACT []
synonym: "Traumatic Twelfth Nerve Palsy" EXACT []
synonym: "Twelfth Cranial Nerve Injuries" EXACT []
synonym: "Twelfth Cranial Nerve Injury" EXACT []
synonym: "Twelfth Nerve Trauma" EXACT []
synonym: "Twelfth-Nerve Traumas" EXACT []
xref: MESH:D061228
is_a: DOID:13814 ! hypoglossal nerve disease
is_a: DOID:9000598 ! Cranial Nerve Injuries

[Term]
id: DOID:9001930
name: Choroid Hemorrhage
def: "Hemorrhage from the vessels of the choroid." [MESH:D002832]
synonym: "Choroidal Hemorrhage" EXACT []
synonym: "Choroidal Hemorrhages" EXACT []
xref: MESH:D002832
is_a: DOID:1417 ! choroid disease
is_a: DOID:9004938 ! Eye Hemorrhage

[Term]
id: DOID:9001931
name: Hereditary Pulmonary Emphysema
alt_id: MIM:130700
xref: MESH:C565057
is_a: DOID:9675 ! pulmonary emphysema

[Term]
id: DOID:9001932
name: Abdominal Injuries
def: "General or unspecified injuries involving organs in the abdominal cavity." [MESH:D000007]
synonym: "Abdominal Injury" EXACT []
xref: EFO:0009502
xref: MESH:D000007
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9001934
name: Neonatal Sepsis
def: "Blood infection that occurs in an infant younger than 90 days old. Early-onset sepsis is seen in the first week of life and most often appears within 24 hours of birth. Late-onset occurs after 1 week and before 3 months of age." [MESH:D000071074]
synonym: "Neonatal Early-Onset Sepses" EXACT []
synonym: "Neonatal Early Onset Sepsis" EXACT []
synonym: "Neonatal Late-Onset Sepses" EXACT []
synonym: "Neonatal Late Onset Sepsis" EXACT []
synonym: "Neonatal Sepses" EXACT []
xref: MESH:D000071074
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9004484 ! Sepsis

[Term]
id: DOID:9001935
name: Michels Caskey Syndrome
synonym: "Mullerian aplasia with hypoplastic thumbs" EXACT []
xref: MESH:C537576
xref: MONDO:0043131
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9005851 ! 46, XX Disorders of Sex Development
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001936
name: Bobble-Head Doll Syndrome
xref: MESH:C536241
is_a: DOID:225 ! syndrome
is_a: DOID:9007612 ! Arachnoid Cysts
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9001937
name: Hemolytic Anemia due to Elevated Adenosine Deaminase
synonym: "HAEADA" EXACT []
synonym: "Hemolytic Anemia due to Elevated Erythrocyte ADA" EXACT []
xref: MESH:C566314
xref: MIM:301083
xref: MONDO:0020458
is_a: DOID:583 ! hemolytic anemia

[Term]
id: DOID:9001938
name: BADS syndrome
synonym: "Black Locks with Albinism and Deafness Syndrome" EXACT []
xref: MESH:C562663
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9001939
name: Bartsocas-Papas Syndrome 1
alt_id: MIM:263650
synonym: "Aslan multiple pterygium syndrome" EXACT []
synonym: "BPS1" EXACT []
synonym: "multiple pterygium syndrome, Aslan type" EXACT []
synonym: "popliteal pterygium, lethal type" EXACT []
synonym: "popliteal pterygium syndrome, Bartsocas-Papas type 1, multiple" EXACT []
synonym: "popliteal pterygium syndrome, lethal type" EXACT []
synonym: "pterygium syndrome, Aslan type" EXACT []
xref: MESH:C564874
xref: NCI:C168990
is_a: DOID:0060055 ! popliteal pterygium syndrome

[Term]
id: DOID:9001940
name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 3
def: "A neurodegenerative disorder characterized by increased head circumference in infancy followed by progressive motor and cognitive decline in early childhood. Caused by heterozygous mutation in the GPRC5B gene on chromosome 16p12." [MIM:620447]
synonym: "MLC3" EXACT []
xref: MIM:620447
is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts
created_by: mtutaj
creation_date: 2023-07-25T09:55:56Z

[Term]
id: DOID:9001941
name: RECON PROGEROID SYNDROME
def: "This disease is a chromosomal instability disorder characterized by postnatal growth retardation, progeroid facial appearance, hypoplastic nose, prominent premaxilla, skin photosensitivity and xeroderma, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs." [MIM:620370]
synonym: "RECON" EXACT []
synonym: "RECQL-RELATED CONDITION" EXACT []
xref: MIM:620370
is_a: DOID:0081332 ! progeroid syndrome
created_by: slaulede
creation_date: 2023-07-21T10:26:17Z

[Term]
id: DOID:9001942
name: Rajab Interstitial Lung Disease with Brain Calcifications
synonym: "Rajab interstitial lung disease with brain calcifications" EXACT []
synonym: "Rajab syndrome" EXACT []
synonym: "RILDBC" EXACT []
xref: MIM:PS613658
is_a: DOID:182 ! calcinosis
is_a: DOID:225 ! syndrome
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2020-09-25T11:57:33Z

[Term]
id: DOID:9001943
name: Macrosomia Adiposa Congenita
alt_id: MIM:248100
xref: MESH:C565425
is_a: DOID:28 ! endocrine system disease
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9001944
name: Histiocytic Dermatoarthritis
alt_id: MIM:142730
xref: MESH:C564183
is_a: DOID:848 ! arthritis
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9001945
name: Childhood Absence Epilepsy 6
synonym: "ECA6" EXACT []
synonym: "EIG6" EXACT []
synonym: "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6" RELATED []
synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6" RELATED []
xref: MIM:611942
is_a: DOID:1825 ! childhood absence epilepsy
is_a: DOID:1827 ! idiopathic generalized epilepsy
created_by: mtutaj
creation_date: 2022-10-25T08:15:41Z

[Term]
id: DOID:9001946
name: Skin Abnormalities
def: "Congenital structural abnormalities of the skin." [MESH:D012868]
synonym: "Skin Abnormality" EXACT []
xref: MESH:D012868
is_a: DOID:37 ! skin disease
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9001947
name: Hennekam Lymphangiectasia-Lymphedema Syndrome 2
alt_id: RDO:9000431
synonym: "FAT4-RELATED CONDITION" BROAD []
synonym: "HKLLS2" EXACT []
xref: MIM:616006
is_a: DOID:0060366 ! Hennekam syndrome
created_by: rgd
creation_date: 2015-07-01T00:00:00Z

[Term]
id: DOID:9001948
name: Accessory Nerve Injuries
def: "Traumatic injuries to the ACCESSORY NERVE. Damage to the nerve may produce weakness in head rotation and shoulder elevation." [MESH:D061227]
synonym: "Accessory Nerve Avulsion" EXACT []
synonym: "Accessory Nerve Avulsions" EXACT []
synonym: "Accessory Nerve Contusion" EXACT []
synonym: "Accessory Nerve Contusions" EXACT []
synonym: "Accessory Nerve Injury" EXACT []
synonym: "Accessory Nerve Transection" EXACT []
synonym: "Accessory Nerve Transections" EXACT []
synonym: "Accessory Nerve Trauma" EXACT []
synonym: "Accessory Nerve Traumas" EXACT []
synonym: "Cranial Nerve XI Injury" EXACT []
synonym: "Eleventh Cranial Nerve Injuries" EXACT []
synonym: "Eleventh Cranial Nerve Injury" EXACT []
synonym: "Eleventh Nerve Trauma" EXACT []
synonym: "Eleventh-Nerve Traumas" EXACT []
synonym: "Spinal Accessory Nerve Avulsion" EXACT []
synonym: "Spinal Accessory Nerve Contusion" EXACT []
synonym: "Spinal Accessory Nerve Injury" EXACT []
synonym: "Spinal Accessory Nerve Transection" EXACT []
synonym: "Spinal Accessory Nerve Trauma" EXACT []
synonym: "Spinal Accessory Neuropathy, Traumatic" EXACT []
synonym: "Traumatic Accessory Neuropathies" EXACT []
synonym: "Traumatic Accessory Neuropathy" EXACT []
synonym: "Traumatic Eleventh-Nerve Palsies" EXACT []
synonym: "Traumatic Eleventh Nerve Palsy" EXACT []
xref: MESH:D061227
is_a: DOID:339 ! accessory nerve disease
is_a: DOID:9000598 ! Cranial Nerve Injuries

[Term]
id: DOID:9001949
name: Fungal Eye Infections
def: "Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses." [MESH:D015821]
synonym: "fungal eye infection" EXACT []
synonym: "Fungal Ocular Infection" EXACT []
synonym: "Fungal Ocular Infections" EXACT []
synonym: "Ocular Mycoses" EXACT []
synonym: "Ocular Mycosis" EXACT []
synonym: "Ocular Mycotic Infection" EXACT []
synonym: "Ocular Mycotic Infections" EXACT []
synonym: "Oculomycoses" EXACT []
synonym: "oculomycosis" EXACT []
xref: MESH:D015821
is_a: DOID:1564 ! fungal infectious disease
is_a: DOID:9008201 ! Eye Infections

[Term]
id: DOID:9001950
name: Ribbonlike Corneal Degeneration with Deafness
alt_id: MIM:121450
synonym: "Band Keratopathy with Deafness" EXACT []
xref: MESH:C565157
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9001951
name: Distal Symphalangism
alt_id: MIM:185700
xref: HP:0100263
xref: MESH:C566099
xref: MONDO:0008509
xref: ORDO:3248
is_a: DOID:227 ! ankylosis
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9001952
name: Respiratory Tract Fistula
def: "An abnormal passage communicating between any component of the respiratory tract or between any part of the respiratory system and surrounding organs." [MESH:D016156]
synonym: "Respiratory Tract Fistulas" EXACT []
xref: MESH:D016156
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:9007343 ! Fistula

[Term]
id: DOID:9001953
name: Pneumovirus Infections
def: "Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans." [MESH:D018186]
synonym: "pneumovirus infection" EXACT []
xref: EFO:1001401
xref: MESH:D018186
is_a: DOID:9005956 ! Pneumovirinae infections

[Term]
id: DOID:9001954
name: Thoracic Injuries
def: "General or unspecified injuries to the chest area." [MESH:D013898]
synonym: "Chest Injuries" EXACT []
synonym: "Chest Injury" EXACT []
synonym: "Thoracic Injury" EXACT []
xref: MESH:D013898
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9001955
name: Diabetic Gastroparesis
def: "Chronic delayed gastric emptying associated with DIABETES MELLITUS and characterized by a triad of postprandial symptoms: nausea, vomiting, and abdominal distension." []
synonym: "diabetic gatrointestinal disorder" RELATED []
is_a: DOID:11914 ! gastroparesis

[Term]
id: DOID:9001956
name: Darier Disease, Acral Hemorrhagic Type
xref: MESH:C565125
is_a: DOID:2734 ! keratosis follicularis

[Term]
id: DOID:9001957
name: Keratosis Palmoplantaris with Periodontopathia and Onychogryposis
alt_id: MIM:245010
synonym: "Cochin Jewish disorder" EXACT []
synonym: "Haim-Munk syndrome" EXACT []
synonym: "HMS" EXACT []
xref: MESH:C537627
xref: RDO:0003499
is_a: DOID:3389 ! Papillon-Lefevre disease
is_a: DOID:9001402 ! Acro-Osteolysis

[Term]
id: DOID:9001958
name: Immunodeficiency 77
def: "An immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Caused by heterozygous mutation in the MPEG1 gene on chromosome 11q12. (OMIM)" []
synonym: "IMD77" EXACT []
xref: MIM:619223
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2021-03-22T11:14:24Z

[Term]
id: DOID:9001959
name: Cold Injury
def: "A physical injury caused by exposure of the body to extremely low ambient temperatures that may lead to loss of body parts, or in extreme cases, death. Examples of cold injury are FROSTBITE and CHILBLAINS." [MESH:D000067390]
synonym: "Cold Injuries" EXACT []
xref: MESH:D000067390
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9001960
name: Robin Sequence with Distinctive Facial Appearance and Brachydactyly
alt_id: MIM:608670
xref: MESH:C563880
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:1059 ! intellectual disability
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9001961
name: Hyperkalemia
def: "Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed)" [MESH:D006947]
synonym: "Hyperkalemias" EXACT []
synonym: "Hyperpotassemia" EXACT []
synonym: "Hyperpotassemias" EXACT []
xref: MESH:D006947
is_a: DOID:9004004 ! Water-Electrolyte Imbalance

[Term]
id: DOID:9001962
name: Avian Sarcoma
def: "Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses." [MESH:D001357]
synonym: "Avian sarcomas" EXACT []
synonym: "Rous sarcoma" EXACT []
xref: MESH:D001357
is_a: DOID:9004886 ! Tumor Virus Infections
is_a: DOID:9005474 ! Experimental Sarcoma
is_a: DOID:9006114 ! Bird Diseases
is_a: DOID:9006644 ! Retroviridae Infections

[Term]
id: DOID:9001964
name: Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
alt_id: MIM:165199
xref: MESH:C563497
is_a: DOID:5723 ! optic atrophy
is_a: DOID:870 ! neuropathy
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9001965
name: Furukawa Takagi Nakao Syndrome
xref: MESH:C538193
xref: RDO:0004135
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:225 ! syndrome
is_a: DOID:767 ! muscular atrophy
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9001966
name: GABRIELE-DE VRIES SYNDROME
def: "An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. (OMIM)" []
synonym: "GADEVS" EXACT []
xref: MIM:617557
xref: NCI:C165531
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2017-08-08T00:00:00Z

[Term]
id: DOID:9001967
name: Ulna Metaphyseal Dysplasia Syndrome
alt_id: MIM:191420
synonym: "Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna" EXACT []
synonym: "Metaphyseal Chondrodysplasia, Rosenberg Type" EXACT []
synonym: "Metaphyseal chondroplasia Rosenberg type" EXACT []
synonym: "Rosenberg Lohr syndrome" EXACT []
xref: MESH:C536935
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9001968
name: Hot Flashes
def: "A sudden, temporary sensation of heat predominantly experienced by some women during MENOPAUSE. (Random House Unabridged Dictionary, 2d ed)" [MESH:D019584]
xref: MESH:D019584
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9001969
name: O'Donnell-Luria-Rodan Syndrome
def: "A neurodevelopmental disorder characterized by global developmental delay, speech delay, variably delayed intellectual development, and subtle dysmorphic features." [MIM:618512]
synonym: "ABNORMALITY OF THE CEREBELLAR VERMIS" NARROW []
synonym: "KMT2E-RELATED CONDITION" EXACT []
synonym: "ODLURO" EXACT []
xref: EFO:0010277
xref: MIM:618512
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2019-09-16T14:34:29Z

[Term]
id: DOID:9001971
name: Kotzot-Richter Syndrome
synonym: "Albinism with immune and hematologic defects" EXACT []
synonym: "Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies" EXACT []
xref: MESH:C537025
is_a: DOID:225 ! syndrome
is_a: DOID:3753 ! Hermansky-Pudlak syndrome
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9001973
name: Myokymia with Neonatal Epilepsy
synonym: "BFNC-Myokymia syndrome" EXACT []
synonym: "Convulsions, benign familial neonatal with Myokymia" EXACT []
synonym: "Epilepsy, benign neonatal, with Myokymia" EXACT []
xref: MESH:C536099
is_a: DOID:14264 ! benign neonatal seizures
is_a: DOID:9003935 ! Myokymia

[Term]
id: DOID:9001974
name: Major Affective Disorder 3
alt_id: MIM:609633
synonym: "Bipolar Affective Disorder, Early-Onset" EXACT []
synonym: "BPEO" EXACT []
synonym: "MAFD3" EXACT []
xref: MESH:C566501
is_a: DOID:3312 ! bipolar disorder

[Term]
id: DOID:9001975
name: Arterivirus Infections
def: "Infections caused by viruses of the genus ARTERIVIRUS." [MESH:D018174]
synonym: "Arterivirus Infection" EXACT []
synonym: "Arterivirus infectious disease" EXACT []
xref: EFO:0007152
xref: MESH:D018174
xref: RDO:0007092
is_a: DOID:9008504 ! Nidovirales Infections

[Term]
id: DOID:9001976
name: Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive
def: "This disease is characterized by severe generalized muscle weakness apparent from birth. Affected infants have generalized hypotonia with poor cry and feeding, head lag, and facial muscle weakness with ptosis." [MIM:619461]
synonym: "CMS7B" EXACT []
synonym: "SYT2-RELATED CONDITION" BROAD []
xref: MIM:619461
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: slaulede
creation_date: 2021-10-21T11:16:49Z

[Term]
id: DOID:9001977
name: Corpse Dismemberment
def: "Disjoining the limbs or other parts of a corpse, often in association with criminal acts." [MESH:D056146]
synonym: "Cadaver Dismemberment" EXACT []
synonym: "Cadaver Dismemberments" EXACT []
synonym: "Corpse Dismemberments" EXACT []
xref: MESH:D056146
is_a: DOID:9000656 ! Penetrating Wounds
is_a: DOID:9002290 ! Cadaver

[Term]
id: DOID:9001979
name: Amaurosis Hypertrichosis
alt_id: MIM:204110
synonym: "Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis" EXACT []
synonym: "Cone-rod congenital amaurosis associated with congenital hypertrichosis" EXACT []
synonym: "cone-rod type congenital amaurosis with congenital hypertrichosis" EXACT []
xref: MESH:C536604
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:14791 ! Leber congenital amaurosis
is_a: DOID:420 ! hypertrichosis

[Term]
id: DOID:9001980
name: Feline Infectious Peritonitis
def: "Common coronavirus infection of cats caused by the feline infectious peritonitis virus (CORONAVIRUS, FELINE). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis." [MESH:D016766]
synonym: "Feline Infectious Peritonitides" EXACT []
xref: MESH:D016766
is_a: DOID:0080599 ! Coronavirus infectious disease
is_a: DOID:9005924 ! Cat Diseases

[Term]
id: DOID:9001981
name: Weight Loss
def: "Decrease in existing BODY WEIGHT." [MESH:D015431]
synonym: "Weight Losses" EXACT []
synonym: "Weight Reduction" EXACT []
synonym: "Weight Reductions" EXACT []
xref: MESH:D015431
is_a: DOID:9003287 ! Body Weight Changes

[Term]
id: DOID:9001982
name: Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
alt_id: MIM:130090
synonym: "EDS, unspecified" EXACT []
synonym: "Ehlers-Danlos Syndrome, Friedman-Harrod Type" EXACT []
xref: MESH:C562424
is_a: DOID:13359 ! Ehlers-Danlos syndrome

[Term]
id: DOID:9001983
name: Harderoporphyria
alt_id: MIM:618892
synonym: "HARPO" EXACT []
xref: MESH:C562816
is_a: DOID:13269 ! hereditary coproporphyria

[Term]
id: DOID:9001984
name: Fetal Diseases
def: "Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES." [MESH:D005315]
synonym: "Embryopathies" EXACT []
synonym: "Embryopathy" EXACT []
synonym: "Fetal Disease" EXACT []
xref: MESH:D005315
is_a: DOID:9004324 ! Congenital, Hereditary, and Neonatal Diseases and Abnormalities
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9001985
name: Transmissible Enteritis, of Turkeys
def: "An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a CORONAVIRUS." [MESH:D004753]
synonym: "Bluecomb of Turkeys" EXACT []
xref: MESH:D004753
is_a: DOID:0080599 ! Coronavirus infectious disease
is_a: DOID:9004902 ! Poultry Diseases

[Term]
id: DOID:9001986
name: Familial Dysalbuminemic Hyperthyroxinemia
alt_id: MESH:C566305
alt_id: MIM:615999
def: "An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum THYROXINE; (T4) in euthyroid patients with abnormal SERUM ALBUMIN that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and TSH are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the ALB gene on CHROMOSOME 4." [MESH:D050010]
synonym: "dysalbuminemic hyperthyroxinemia" EXACT []
synonym: "dysalbuminemic hypertriiodothyroninemia" NARROW []
synonym: "euthyroid hyperthyroxinemia 1" EXACT []
synonym: "familial dysalbuminemic hypertriiodothyroninemia" NARROW []
synonym: "FDAH" EXACT []
synonym: "FDH" EXACT []
xref: MESH:D050010
is_a: DOID:2855 ! hyperthyroxinemia
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9001987
name: Trichostasis Spinulosa
xref: MESH:C536558
is_a: DOID:161 ! keratosis
is_a: DOID:421 ! hair disease
is_a: DOID:9006202 ! Pruritus

[Term]
id: DOID:9001988
name: Rhabdoid Tumor Predisposition Syndrome 2
synonym: "RTPS2" EXACT []
synonym: "SMARCA4-RELATED BAFOPATHY" BROAD []
synonym: "SMARCA4-RELATED CONDITION" BROAD []
xref: MESH:C567643
xref: MIM:613325
xref: MONDO:0013224
is_a: DOID:3672 ! rhabdoid cancer

[Term]
id: DOID:9001989
name: Folate-Sensitive Neural Tube Defects
alt_id: MIM:601634
synonym: "folate-sensitive neural tube defect" EXACT []
synonym: "MTHFD1-RELATED CONDITION" BROAD []
synonym: "Neural tube defects, folate-sensitive, susceptibility to" RELATED []
synonym: "NTD, FOLATE-SENSITIVE  SPINA BIFIDA, FOLATE-SENSITIVE" NARROW []
synonym: "NTDFS" EXACT []
synonym: "SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO" RELATED []
xref: MESH:C536409
is_a: DOID:0060668 ! anencephaly
is_a: DOID:0080074 ! neural tube defect

[Term]
id: DOID:9001990
name: Meckel Syndrome 14
def: "A lethal disorder characterized by occipital encephalocele, postaxial polydactyly of the hands and feet, and polycystic kidneys. Caused by homozygous or compound heterozygous mutation in the TXNDC15 gene on chromosome 5q31." [MIM:619879]
synonym: "MKS14" EXACT []
xref: MIM:619879
is_a: DOID:0050778 ! Meckel syndrome
created_by: mtutaj
creation_date: 2022-05-13T13:56:42Z

[Term]
id: DOID:9001991
name: Renal-Hepatic-Pancreatic Dysplasia 1
synonym: "RHPD1" EXACT []
xref: MIM:208540
is_a: DOID:0060259 ! renal-hepatic-pancreatic dysplasia
is_a: DOID:2785 ! Dandy-Walker syndrome

[Term]
id: DOID:9001992
name: Chromosome 3, Monosomy 3q21 23
synonym: "Deletion 3q21 23" EXACT []
synonym: "Monosomy 3q21 23" EXACT []
xref: MESH:C536809
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9001993
name: Retinitis Pigmentosa 76
synonym: "RP76" EXACT []
xref: MIM:617123
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:9001994
name: Synpolydactyly 2
alt_id: MIM:608180
synonym: "SPD2" EXACT []
synonym: "SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES" EXACT []
xref: MESH:C564278
is_a: DOID:0060242 ! synpolydactyly
is_a: DOID:1148 ! polydactyly
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9001995
name: Actinic Cheilitis
synonym: "Actinic cheilosis" EXACT []
xref: MESH:C535669
is_a: DOID:1762 ! cheilitis

[Term]
id: DOID:9001996
name: Sensorineural Deafness with Mild Renal Dysfunction
xref: MESH:C567544
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:445 ! Bartter disease

[Term]
id: DOID:9001997
name: Pdgfra-Associated Chronic Eosinophilic Leukemia
alt_id: RDO:0015915
synonym: "Pdgfra-associated myeloproliferative neoplasm" EXACT []
xref: MESH:C580364
is_a: DOID:0080367 ! chronic eosinophilic leukemia
is_a: DOID:999 ! hypereosinophilic syndrome

[Term]
id: DOID:9001998
name: Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies
alt_id: MIM:601027
xref: MESH:C563403
is_a: DOID:1148 ! polydactyly
is_a: DOID:9007612 ! Arachnoid Cysts
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9001999
name: Agenesis of Corpus Callosum
alt_id: MIM:217990
def: "Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity." [MESH:D061085]
synonym: "Absence of Corpus Callosum" EXACT []
synonym: "Corpus Callosum Absence" EXACT []
synonym: "Corpus Callosum Ageneses" EXACT []
synonym: "Corpus Callosum Agenesis" EXACT []
synonym: "Corpus Callosum Dysgenesis" EXACT []
synonym: "Corpus Callosum Hypogenesis" EXACT []
synonym: "Corpus Callosum Malformation" EXACT []
xref: MESH:D061085
is_a: DOID:9005214 ! Anatomical Pathological Conditions
is_a: DOID:9006534 ! Nervous System Malformations

[Term]
id: DOID:9002000
name: Steinfeld Syndrome
alt_id: MIM:184705
xref: MESH:C566655
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:4621 ! holoprosencephaly
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9002001
name: Congenital Central Hypoventilation Syndrome 3
def: "An autosomal recessive disorder characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Caused by homozygous mutation in the LBX1 gene on chromosome 10q24. (OMIM)" []
synonym: "CCHS3" EXACT []
xref: MIM:619483
is_a: DOID:0060731 ! congenital central hypoventilation syndrome
created_by: mtutaj
creation_date: 2021-10-01T12:35:12Z

[Term]
id: DOID:9002002
name: Opportunistic Infections
def: "An infection caused by an organism which becomes pathogenic under certain conditions, e.g., during immunosuppression." [MESH:D009894]
synonym: "Opportunistic Infection" EXACT []
xref: MESH:D009894
is_a: DOID:1398 ! parasitic infectious disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9002003
name: Three M Syndrome 3
synonym: "3M3" EXACT []
synonym: "3M Syndrome 3" EXACT []
xref: MIM:614205
is_a: DOID:0060241 ! 3-M syndrome

[Term]
id: DOID:9002004
name: Caudal Duplication Anomaly
alt_id: MIM:607864
xref: MESH:C564315
xref: RDO:0013323
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9002005
name: Deficiency of Plasma Clot Retraction Factor
alt_id: MIM:262800
xref: MESH:C564885
is_a: DOID:1247 ! blood coagulation disease
is_a: DOID:620 ! blood protein disease

[Term]
id: DOID:9002006
name: Typical Teratoid Rhabdoid Tumor
alt_id: RDO:0016033
synonym: "Teratoid Rhabdoid Tumor" EXACT []
synonym: "Teratoma Rhabdoid Tumor" EXACT []
synonym: "Typical Teratoma Rhabdoid Tumor" EXACT []
xref: MESH:C000597569
is_a: DOID:3307 ! teratoma
is_a: DOID:3672 ! rhabdoid cancer

[Term]
id: DOID:9002007
name: Hersh Podruch Weisskopf Syndrome
synonym: "Toluene embryopathy" EXACT []
xref: MESH:C538114
xref: PMID:4039753
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002008
name: BROWN SYNDROME
def: "This disease is characterized by the inability to elevate the adducted eye actively or passively. There is less elevation deficit with the eye in midposition, and minimal or no deficit in abduction. Brown syndrome accounts for approximately 2% of strabismus cases. Ten percent of cases are bilateral, and left- and right-sided unilateral cases are equal in frequency." [MIM:616407]
synonym: "BRWNS" EXACT []
xref: MIM:616407
is_a: DOID:540 ! strabismus
created_by: slaulederkind
creation_date: 2024-05-10T12:37:28Z

[Term]
id: DOID:9002010
name: Primary Bile Acid Malabsorption 2
def: "An autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease. Caused by homozygous mutation in the SLC51B gene on chromosome 15q22. (OMIM)" []
synonym: "PBAM2" EXACT []
xref: MIM:619481
is_a: DOID:9003880 ! Primary Bile Acid Malabsorption
created_by: mtutaj
creation_date: 2021-08-25T10:32:12Z

[Term]
id: DOID:9002011
name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9
def: "An autosomal recessive disorder characterized by episodic acute neurodegeneration and developmental regression associated with infections and febrile illness." [MIM:618426]
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9" RELATED []
synonym: "IIAE9" RELATED []
xref: MIM:618426
is_a: DOID:936 ! brain disease
created_by: slaulede
creation_date: 2019-08-05T13:27:13Z

[Term]
id: DOID:9002012
name: Senior-Loken Syndrome 3
alt_id: MIM:606995
synonym: "SLSN3" EXACT []
xref: MESH:C564637
is_a: DOID:0050576 ! Senior-Loken syndrome

[Term]
id: DOID:9002014
name: Post-Traumatic Headache
def: "Secondary headache attributed to TRAUMA of the HEAD and/or the NECK." [MESH:D051298]
synonym: "Cervicogenic Headache" EXACT []
synonym: "Cervicogenic Headaches" EXACT []
synonym: "Post-Traumatic Headaches" EXACT []
xref: MESH:D051298
xref: RDO:0007578
is_a: DOID:9005633 ! Headache Disorders, Secondary

[Term]
id: DOID:9002015
name: Prostate Cancer, Hereditary, 13
alt_id: MIM:611928
synonym: "HPC13" EXACT []
xref: MESH:C567456
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9002016
name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE
def: "A disease characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles." [MIM:617974]
synonym: "SEMDDR" EXACT []
synonym: "spondyloepimetaphyseal dysplasia of the Di Rocco type" EXACT []
xref: MIM:617974
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
created_by: slaulede
creation_date: 2019-07-18T13:36:47Z

[Term]
id: DOID:9002017
name: Folate-Responsive Megaloblastic Anemia
synonym: "folate level in erythrocytes" EXACT []
synonym: "MEGAF" EXACT []
xref: MIM:601775
is_a: DOID:13382 ! megaloblastic anemia
created_by: mtutaj
creation_date: 2021-04-13T13:18:45Z

[Term]
id: DOID:9002018
name: Pneumocephalus
def: "Presence of air or gas within the intracranial cavity (e.g., epidural space, subdural space, intracerebral, etc.) which may result from traumatic injuries, fistulous tract formation, erosions of the skull from NEOPLASMS or infection, NEUROSURGICAL PROCEDURES, and other conditions." [MESH:D011007]
synonym: "Cranial Airocele" EXACT []
synonym: "Cranial Airoceles" EXACT []
synonym: "Cranial Pneumocyst" EXACT []
synonym: "Cranial Pneumocysts" EXACT []
synonym: "Epidural Pneumocephalus" EXACT []
synonym: "Intracranial Gas" EXACT []
synonym: "Pressure Pneumocephalus" EXACT []
synonym: "Tension Pneumocephalus" EXACT []
synonym: "Traumatic Pneumocephalus" EXACT []
xref: EFO:1001398
xref: MESH:D011007
xref: RDO:0006366
is_a: DOID:331 ! central nervous system disease
is_a: DOID:9000998 ! Brain Injuries

[Term]
id: DOID:9002019
name: Granuloma
def: "A relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents." [MESH:D006099]
synonym: "Granulomas" EXACT []
xref: EFO:0009462
xref: MESH:D006099
xref: NCI:C3064
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9002020
name: Mental Health Wellness 1
synonym: "MHW1" EXACT []
xref: MIM:603663
xref: RDO:0008896
is_a: DOID:3312 ! bipolar disorder

[Term]
id: DOID:9002021
name: Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined
alt_id: MIM:302900
synonym: "CHARCOT-MARIE-TOOTH-LIKE DISEASE" EXACT []
xref: MESH:C564446
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
is_a: DOID:12705 ! Friedreich ataxia

[Term]
id: DOID:9002022
name: Benign Smooth Muscle Neoplasm
def: "This is a benign mesenchymal neoplasm arising from smooth muscle tissue." [NCI:C6510]
synonym: "Benign Smooth Muscle Tumor" EXACT []
xref: EFO:1000121
is_a: DOID:4310 ! smooth muscle tumor
created_by: slaulede
creation_date: 2022-12-12T15:28:17Z

[Term]
id: DOID:9002023
name: Leukotriene C4 Synthase Deficiency
alt_id: MIM:614037
synonym: "LTC4 Synthase Deficiency" EXACT []
xref: MESH:C565439
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9002024
name: Hydrocephalus, Skeletal Anomalies, and Mental Disturbance
xref: MESH:C563413
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:150 ! disease of mental health
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9002025
name: Familial Visceral Myopathy
xref: MESH:C562574
is_a: DOID:0080072 ! intestinal pseudo-obstruction

[Term]
id: DOID:9002026
name: Eagle Syndrome
synonym: "Eagle's syndrome" EXACT []
synonym: "Elongated styloid process syndrome" EXACT []
synonym: "Styloid-stylohoid syndrome" EXACT []
xref: MESH:C538010
is_a: DOID:225 ! syndrome
is_a: DOID:9003295 ! Heterotopic Ossification

[Term]
id: DOID:9002027
name: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
synonym: "HLASA" EXACT []
xref: MIM:617021
is_a: DOID:8955 ! sideroblastic anemia
is_a: DOID:9004872 ! Congenital Infantile Lactic Acidosis
is_a: DOID:9008386 ! Hydrops Fetalis

[Term]
id: DOID:9002028
name: Tuberculosis, Male Genital
def: "MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." [MESH:D014389]
synonym: "Male Genital Tuberculoses" EXACT []
xref: EFO:1001030
xref: MESH:D014389
xref: RDO:0006768
is_a: DOID:2149 ! urogenital tuberculosis
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:9002029
name: Indolylacroyl Glycinuria with Mental Retardation
alt_id: MIM:243050
xref: MESH:C565466
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9002030
name: CIMDAG SYNDROME
def: "This disease is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination." [MIM:619273]
synonym: "CEREBELLAR HYPOPLASIA, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, CONGENITAL MICROCEPHALY, DYSTONIA, DYSERYTHROPOIETIC ANEMIA, AND GROWTH RETARDATION" EXACT []
synonym: "CIMDAG" EXACT []
xref: MIM:619273
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2021-05-13T11:23:28Z

[Term]
id: DOID:9002031
name: Frontotemporal Lobar Degeneration
def: "Heterogeneous group of neurodegenerative disorders characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Multiple subtypes or forms are recognized based on presence or absence of TAU PROTEIN inclusions. FTLD includes three clinical syndromes: FRONTOTEMPORAL DEMENTIA, semantic dementia, and PRIMARY PROGRESSIVE NONFLUENT APHASIA." [MESH:D057174]
synonym: "Frontotemporal Lobar Degenerations" EXACT []
synonym: "FTLD" EXACT []
synonym: "FTLDs" EXACT []
xref: MESH:D057174
is_a: DOID:1307 ! dementia
is_a: DOID:9004479 ! TDP-43 Proteinopathies

[Term]
id: DOID:9002032
name: Prodromal Symptoms
def: "Clinical or physiological indicators that precede the onset of disease." [MESH:D062706]
synonym: "Prodromal Characteristic" EXACT []
synonym: "prodromal characteristics" EXACT []
synonym: "Prodromal Period" EXACT []
synonym: "Prodromal Periods" EXACT []
synonym: "Prodromal Sign" EXACT []
synonym: "Prodromal Signs" EXACT []
synonym: "Prodromal Stage" EXACT []
synonym: "Prodromal Stages" EXACT []
synonym: "Prodromal State" EXACT []
synonym: "Prodromal States" EXACT []
synonym: "Prodromal Symptom" EXACT []
synonym: "Prodromal Syndrome" EXACT []
synonym: "prodromal syndromes" EXACT []
xref: MESH:D062706
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9002033
name: Knobloch Syndrome
synonym: "KNO" EXACT []
synonym: "Passos-Bueno syndrome" EXACT []
synonym: "Retinal Detachment and Occipital Encephalocele" EXACT []
synonym: "retinal detachment, occipital encephalocele" EXACT []
xref: GARD:380
xref: MESH:C537209
xref: MIM:PS267750
is_a: DOID:225 ! syndrome
is_a: DOID:5327 ! retinal detachment
is_a: DOID:9000983 ! Encephalocele

[Term]
id: DOID:9002034
name: Autosomal Recessive Cutis Laxa
synonym: "recessive cutis laxa" EXACT []
xref: MESH:C536225
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:3144 ! cutis laxa

[Term]
id: DOID:9002035
name: Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly
synonym: "GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS" EXACT []
synonym: "SDCHCN" EXACT []
synonym: "Stomatin-Deficient Cryohydrocytosis with Neurologic Defects" EXACT []
xref: MESH:C563840
xref: MIM:608885
xref: MONDO:0012143
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:83 ! cataract
is_a: DOID:9002720 ! Splenomegaly
is_a: DOID:9005369 ! Hepatomegaly

[Term]
id: DOID:9002036
name: Chondrocalcinosis 1
alt_id: MIM:600668
synonym: "calcium pyrophosphate dihydrate deposition disease 1" EXACT []
synonym: "CCAL1" EXACT []
synonym: "Chondrocalcinosis with early-onset osteoarthritis" EXACT []
synonym: "CPPDD1" EXACT []
xref: MESH:C535938
is_a: DOID:1156 ! chondrocalcinosis
is_a: DOID:8398 ! osteoarthritis

[Term]
id: DOID:9002037
name: Epidermodysplasia Verruciformis, X-Linked
alt_id: MIM:305350
synonym: "EDV2" EXACT []
synonym: "EDVX" EXACT []
xref: MESH:C564430
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:13777 ! epidermodysplasia verruciformis

[Term]
id: DOID:9002039
name: Oocyte/Zygote/Embryo Maturation Arrest 10
synonym: "Oocyte Maturation Defect 10" EXACT []
synonym: "OOMD10" EXACT []
synonym: "OZEMA10" EXACT []
xref: MIM:619176
is_a: DOID:9007456 ! Female Infertility
created_by: mtutaj
creation_date: 2021-02-08T11:11:49Z

[Term]
id: DOID:9002040
name: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
synonym: "RPEM" EXACT []
xref: MIM:616959
xref: RDO:9001201
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:9002041
name: Poor Metabolism of Thiopurines, 2
def: "A severe hematopoietic toxicity upon treatment of patients with standard doses of thiopurines, a class of antineoplastic/immunosuppressant agents that consists of mercaptopurine, thioguanine, and azathioprine. (OMIM)" []
synonym: "THPM2" EXACT []
xref: MIM:616903
is_a: DOID:0080172 ! thiopurine S-methyltransferase deficiency
created_by: rgd
creation_date: 2016-05-20T00:00:00Z

[Term]
id: DOID:9002043
name: Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
def: "An autosomal recessive progressive disorder with onset of symptoms in the first decade." [MIM:618868]
synonym: "CONATOC" EXACT []
xref: MIM:618868
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9000495 ! Tremor
is_a: DOID:9004866 ! Ataxia
created_by: slaulede
creation_date: 2020-08-04T13:05:22Z

[Term]
id: DOID:9002044
name: Ansell Bywaters Elderking Syndrome
xref: MESH:C537773
is_a: DOID:1059 ! intellectual disability
is_a: DOID:13141 ! uveitis
is_a: DOID:14286 ! neurogenic arthropathy
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9002045
name: Respiratory Aspiration of Gastric Contents
def: "Inhaling refluxed gastric or duodenal contents." [MESH:D063466]
xref: MESH:D063466
xref: RDO:0012118
is_a: DOID:9001264 ! Respiratory Aspiration
is_a: DOID:9003366 ! Laryngopharyngeal Reflux

[Term]
id: DOID:9002046
name: Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries
alt_id: MIM:159050
alt_id: RDO:0012781
xref: MESH:C563554
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9002047
name: Postaxial Polydactyly, Type A5
synonym: "PAPA5" EXACT []
xref: MIM:263450
is_a: DOID:9003071 ! Postaxial Polydactyly
created_by: mtutaj
creation_date: 2019-10-07T10:01:25Z

[Term]
id: DOID:9002048
name: Dentofacial Deformities
def: "An abnormality of the jaws or teeth affecting the contour of the face. Such abnormality could be acquired or congenital." [MESH:D063169]
synonym: "Dentofacial Abnormalities" EXACT []
synonym: "Dentofacial Abnormality" EXACT []
synonym: "Dentofacial Deformity" EXACT []
synonym: "Dentofacial Dyplasia" EXACT []
synonym: "Dentofacial Dyplasias" EXACT []
xref: MESH:D063169
is_a: DOID:9004563 ! Maxillofacial Abnormalities

[Term]
id: DOID:9002049
name: Anophthalmia
def: "Congenital absence of the eye or eyes." [MESH:D000853]
synonym: "anophthalmias" EXACT []
synonym: "anophthalmos" EXACT []
xref: MESH:D000853
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9002050
name: Flavobacteriaceae Infections
def: "Infections with bacteria of the family FLAVOBACTERIACEAE." [MESH:D045826]
synonym: "Flavobacteriaceae Infection" EXACT []
synonym: "Flavobacteriaceae infectious disease" EXACT []
xref: EFO:1001327
xref: MESH:D045826
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9002051
name: Sandhoff Disease, Juvenile Type
is_a: DOID:3323 ! Sandhoff disease

[Term]
id: DOID:9002052
name: Neoplasms by Histologic Type
def: "A collective term for the various histological types of NEOPLASMS. It is more likely to be used by searchers than by indexers and catalogers." [MESH:D009370]
synonym: "Histological Type of Neoplasm" EXACT []
synonym: "Histological Types of Neoplasms" EXACT []
synonym: "Neoplasm Histological Type" EXACT []
synonym: "Neoplasm Histological Types" EXACT []
synonym: "Neoplasms by Histological Type" EXACT []
synonym: "Neoplasms Histological Type" EXACT []
synonym: "Neoplasms Histological Types" EXACT []
xref: MESH:D009370
xref: RDO:0005983
is_a: DOID:14566 ! disease of cellular proliferation

[Term]
id: DOID:9002053
name: Furunculosis
def: "A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of STAPHYLOCOCCUS. In salmonid fish (SALMONIDS), the pathogen is AEROMONAS SALMONICIDA." [MESH:D005667]
synonym: "Boils" EXACT []
synonym: "Furuncle" EXACT []
synonym: "Furuncles" EXACT []
synonym: "Furunculoses" EXACT []
xref: MESH:D005667
is_a: DOID:9000354 ! Fish Diseases
is_a: DOID:9005966 ! Staphylococcal Skin Infections

[Term]
id: DOID:9002054
name: Bilateral Temporal Lobe Disorder
synonym: "Memory loss, extreme sexual behavior, placidity, and visual distractibility" EXACT []
synonym: "Post-encephalitic Kluver Bucy syndrome" EXACT []
synonym: "Post-traumatic Kluver Bucy syndrome" EXACT []
xref: MESH:C538521
is_a: DOID:2510 ! Kluver-Bucy syndrome

[Term]
id: DOID:9002055
name: Chronic Allograft Nephropathy
def: "Chronic, progressive, and irreversible loss of function in a transplanted kidney. It is a multifactorial process associated with progressive interstitial fibrosis and tubular atrophy." []
is_a: DOID:9002153 ! Chronic Allograft Dysfunction
is_a: DOID:9006223 ! Kidney Reperfusion Injury

[Term]
id: DOID:9002056
name: Arterial Injury
def: "Damage to an artery caused by blunt force, penetrating trauma, or iatrogenic manipulation." []
synonym: "arterial injuries" EXACT []
synonym: "artery injuries" EXACT []
synonym: "artery injury" EXACT []
xref: RDO:9000059
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:9002057
name: Arthrogryposis Multiplex Congenita Whistling Face
alt_id: MIM:208155
synonym: "Arthrogryposis Multiplex Congenita With Whistling Face" EXACT []
synonym: "ARTHROGRYPOSIS, WHISTLING FACE, AND DEVELOPMENTAL RETARDATION" EXACT []
synonym: "Illium syndrome" EXACT []
synonym: "Illum Syndrome" EXACT []
synonym: "Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system" EXACT []
xref: MESH:C538401
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9002058
name: Chromosome Fragility
def: "Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations." [MESH:D002873]
synonym: "Chromosomal Fragility" EXACT []
xref: MESH:D002873
xref: RDO:0005216
is_a: DOID:9003882 ! Chromosomal Instability

[Term]
id: DOID:9002059
name: Developmental and Epileptic Encephalopathy 112
def: "An autosomal dominant disorder characterized by a wide range of seizure types, including focal and generalized seizures. Caused by heterozygous mutation in the KCNH5 gene on chromosome 14q23." [MIM:620537]
synonym: "DEE112" EXACT []
xref: MIM:620537
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-10-17T09:17:32Z

[Term]
id: DOID:9002060
name: BOUDIN-MORTIER SYNDROME
def: "This is a disease characterized by tall stature, arachnodactyly, disproportionately elongated great toes, and multiple extra epiphyses." [MIM:619543]
synonym: "BOMOS" EXACT []
synonym: "TALL STATURE AND LONG DIGITS WITH EXTRA EPIPHYSES" EXACT []
xref: MIM:619543
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9005367 ! Arachnodactyly
created_by: slaulede
creation_date: 2021-10-14T15:58:32Z

[Term]
id: DOID:9002061
name: Pseudo-TORCH Syndrome
xref: MIM:PS251290
is_a: DOID:182 ! calcinosis
is_a: DOID:225 ! syndrome
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:936 ! brain disease
created_by: mtutaj
creation_date: 2019-04-29T15:18:57Z

[Term]
id: DOID:9002062
name: Erythrokeratodermia Variabilis, Autosomal Recessive
xref: MESH:C566391
xref: RDO:0014758
is_a: DOID:0050467 ! erythrokeratodermia variabilis

[Term]
id: DOID:9002063
name: Familial Autoinflammatory Syndrome, with or without Immunodeficiency
def: "Characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Caused by heterozygous mutation in the SOCS1 gene on chromosome 16p13. (OMIM)" []
synonym: "AISIMD" EXACT []
xref: MIM:619375
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: mtutaj
creation_date: 2021-06-23T11:15:10Z

[Term]
id: DOID:9002064
name: Parkinson's Disease 12
alt_id: MIM:300557
synonym: "PARK12" EXACT []
synonym: "Parkinson's Disease, X-Linked" EXACT []
synonym: "Parkinson Disease 12" EXACT []
synonym: "Parkinson Disease, X-Linked" EXACT []
xref: MESH:C564486
xref: RDO:0013432
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:14330 ! Parkinson's disease

[Term]
id: DOID:9002065
name: Familial Atrial Fibrillation 12
synonym: "ATFB12" EXACT []
xref: MIM:614050
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9002066
name: Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities
def: "An autosomal recessive disorder characterized by global developmental delay and muscle weakness apparent in infancy. Caused by homozygous mutation in the GOLGA2 gene on chromosome 9q34." [MIM:620240]
synonym: "DEDHMB" EXACT []
xref: MIM:620240
is_a: DOID:423 ! myopathy
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2023-02-10T09:16:53Z

[Term]
id: DOID:9002067
name: Cyclic Vomiting Syndrome with Neuromuscular Disease
xref: MESH:C564022
is_a: DOID:440 ! neuromuscular disease
is_a: DOID:9001580 ! Cyclic Vomiting Syndrome

[Term]
id: DOID:9002068
name: Abnormal Thyroid Hormone Metabolism 1
alt_id: MIM:609698
synonym: "Abnormal Thyroid Hormone Metabolism" EXACT []
synonym: "THMA" EXACT []
synonym: "THMA1" EXACT []
xref: MESH:C566454
is_a: DOID:50 ! thyroid gland disease

[Term]
id: DOID:9002069
name: Autosomal Dominant Nonsyndromic Deafness 37
synonym: "autosomal dominant deafness 37" EXACT []
synonym: "DFNA37" EXACT []
xref: MIM:618533
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2019-09-03T13:56:19Z

[Term]
id: DOID:9002070
name: Sick Sinus Syndrome 4
def: "Characterized by early and progressive sinus node and atrioventricular conduction dysfunction. Caused by heterozygous mutation in the GNB2 gene on chromosome 7q22. (OMIM)" []
synonym: "GNB2-RELATED CONDITION" BROAD []
synonym: "SSS4" EXACT []
xref: MIM:619464
is_a: DOID:13884 ! sick sinus syndrome
created_by: mtutaj
creation_date: 2021-08-06T15:50:16Z

[Term]
id: DOID:9002071
name: Specific Language Impairment 1
synonym: "SLI1" EXACT []
xref: MIM:606711
is_a: DOID:0060244 ! specific language impairment

[Term]
id: DOID:9002072
name: Winship Viljoen Leary Syndrome
alt_id: MIM:251220
synonym: "Microcephaly cardiomyopathy" EXACT []
synonym: "Microcephaly-cardiomyopathy syndrome" EXACT []
synonym: "Microcephaly with cardiomyopathy" EXACT []
synonym: "Microcephaly with mental retardation and dilated cardiomyopathy" EXACT []
synonym: "Severe microcephaly and self-limiting dilated cardiomyopathy" EXACT []
synonym: "Severe microcephaly with mental retardation and dilated cardiomyopathy" EXACT []
xref: MESH:C536711
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:12930 ! dilated cardiomyopathy
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9002073
name: Pelizaeus-Merzbacher like Brain Sclerosis
alt_id: MIM:213900
synonym: "Cerebral sclerosis similar to Pelizaeus-Merzbacher disease" EXACT []
xref: MESH:C536318
is_a: DOID:0080122 ! Alpers-Huttenlocher syndrome
is_a: DOID:3210 ! Pelizaeus-Merzbacher disease

[Term]
id: DOID:9002074
name: 3-Hydroxyisobutyric Aciduria
alt_id: MIM:236795
xref: MESH:C535312
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9002075
name: Saccharopinuria
alt_id: MIM:268700
synonym: "alpha aminoadipic semialdehyde deficiency disease" EXACT []
synonym: "alpha-aminoadipic semialdehyde synthase deficiency" EXACT []
synonym: "HYPERLYSINEMIA, TYPE II" EXACT []
synonym: "saccharopine dehydrogenase deficiency" EXACT []
synonym: "saccharopine dehydrogenase deficiency disease" EXACT []
synonym: "saccharopinemia" EXACT []
xref: MESH:C537218
is_a: DOID:9274 ! hyperlysinemia

[Term]
id: DOID:9002076
name: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE
alt_id: DOID:9006164
def: "This disease is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, spasticity, and behavioral abnormalities, most commonly aggressive behavior." [MIM:619548]
synonym: "autosomal recessive Usmani-Riazzudin syndrome" EXACT []
synonym: "USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE" EXACT []
synonym: "USRISR" EXACT []
xref: MIM:619548
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007428 ! Muscle Spasticity
created_by: slaulede
creation_date: 2021-12-14T15:23:30Z

[Term]
id: DOID:9002077
name: Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission 2
def: "An autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. (OMIM)" []
synonym: "EMPF2" EXACT []
synonym: "Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome" EXACT []
synonym: "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect" EXACT []
xref: MIM:617086
xref: MONDO:0014905
xref: ORDO:485421
is_a: DOID:9009111 ! Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission

[Term]
id: DOID:9002078
name: Periventricular Nodular Heterotopia 8
def: "A neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. (OMIM)" []
synonym: "PVNH8" EXACT []
xref: MIM:618185
is_a: DOID:0050454 ! periventricular nodular heterotopia
created_by: slaulede
creation_date: 2019-01-16T17:03:00Z

[Term]
id: DOID:9002079
name: Paresis
def: "A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for PARALYSIS (severe or complete loss of motor function). In the older literature, paresis often referred specifically to paretic neurosyphilis (see NEUROSYPHILIS). 'General paresis' and 'general paralysis' may still carry that connotation. Bilateral lower extremity paresis is referred to as PARAPARESIS." [MESH:D010291]
synonym: "Brachial Pareses" EXACT []
synonym: "Brachial Paresis" EXACT []
synonym: "Crural Pareses" EXACT []
synonym: "Crural Paresis" EXACT []
synonym: "Hemipareses" EXACT []
synonym: "Hemiparesis" EXACT []
synonym: "Lower Extremity Pareses" EXACT []
synonym: "Lower Extremity Paresis" EXACT []
synonym: "Monopareses" EXACT []
synonym: "Monoparesis" EXACT []
synonym: "Muscle Pareses" EXACT []
synonym: "Muscle Paresis" EXACT []
synonym: "Muscular Pareses" EXACT []
synonym: "Muscular Paresis" EXACT []
synonym: "Pareses" EXACT []
synonym: "Upper Extremity Pareses" EXACT []
synonym: "Upper Extremity Paresis" EXACT []
xref: MESH:D010291
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9002080
name: Anterior Cervical Hypertrichosis
alt_id: MIM:600457
synonym: "Hairy throat" EXACT []
synonym: "Hairy throat syndrome" EXACT []
xref: MESH:C538390
is_a: DOID:420 ! hypertrichosis

[Term]
id: DOID:9002081
name: Long QT Syndrome 2/3
alt_id: RDO:0014376
synonym: "LONG QT SYNDROME 2/3, DIGENIC" EXACT []
synonym: "LQT2/3, DIGENIC" EXACT []
xref: MESH:C565841
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:9002082
name: Prolonged Pregnancy
def: "A term used to describe pregnancies that exceed the upper limit of a normal gestational period. In humans, a prolonged pregnancy is defined as one that extends beyond 42 weeks (294 days) after the first day of the last menstrual period (MENSTRUATION), or birth with gestational age of 41 weeks or more." [MESH:D011273]
synonym: "post term pregnancy" EXACT []
synonym: "post-term pregnancy" EXACT []
synonym: "postterm pregnancy" EXACT []
synonym: "Prolonged Pregnancies" EXACT []
xref: EFO:0009681
xref: MESH:D011273
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9002083
name: Branchiootic Syndrome 1
synonym: "anterior segment anomalies with or without cataract" NARROW []
synonym: "BOS1" EXACT []
synonym: "BO syndrome 1" EXACT []
xref: MIM:602588
is_a: DOID:0060232 ! branchiootic syndrome
created_by: mtutaj
creation_date: 2020-09-24T14:10:59Z

[Term]
id: DOID:9002084
name: Chromosome 5, Trisomy 5p
synonym: "Chromosome 5p syndrome" EXACT []
synonym: "Chromosome 5, Trisomy 5p, Complete (5p11-pter)" EXACT []
synonym: "Chromosome 5, Trisomy 5p, Partial (5p13 or 14-pter)" EXACT []
xref: MESH:C537648
xref: RDO:0003525
is_a: DOID:12580 ! Cri-du-Chat syndrome

[Term]
id: DOID:9002085
name: Congenital Cholesteatoma
alt_id: MIM:604183
xref: MESH:C562858
is_a: DOID:869 ! cholesteatoma

[Term]
id: DOID:9002086
name: Split-Hand-Foot Malformation with Long Bone Deficiency 1
alt_id: MIM:119100
alt_id: RDO:0002020
synonym: "aplasia of tibia with ectrodactyly" EXACT []
synonym: "Cleft hand absent tibia" EXACT []
synonym: "Cleft Hand And Absent Tibia" EXACT []
synonym: "Ectrodactyly with aplasia of long bones" EXACT []
synonym: "SHFLD" EXACT []
synonym: "SHFLD1" EXACT []
synonym: "Split-hand-foot malformation with long bone deficiency" EXACT []
synonym: "tibial aplasia with split-hand-split-foot deformity" EXACT []
xref: MESH:C536425
is_a: DOID:0090020 ! split hand-foot malformation
is_a: DOID:9000545 ! Ectromelia

[Term]
id: DOID:9002087
name: Silicotuberculosis
def: "Pulmonary or extrapulmonary infection caused by MYCOBACTERIUM TUBERCULOSIS or nontuberculous mycobacteria in a patient with silicosis." [MESH:D012830]
synonym: "silicotuberculoses" EXACT []
xref: MESH:D012830
is_a: DOID:10325 ! silicosis
is_a: DOID:2957 ! pulmonary tuberculosis

[Term]
id: DOID:9002089
name: Tumor Predisposition Syndrome 1
def: "This is a condition in which individuals carrying heterozygous BAP1 mutations are at high-risk for the development of a variety of tumors." []
synonym: "BAP1 Cancer Syndrome" EXACT []
synonym: "BAP1 TUMOR PREDISPOSITION SYNDROME" EXACT []
synonym: "TUMOR SUSCEPTIBILITY LINKED TO GERMLINE BAP1 MUTATIONS" RELATED []
xref: MIM:614327
is_a: DOID:9001329 ! Tumor Predisposition Syndrome

[Term]
id: DOID:9002090
name: Galactorrhea
alt_id: MIM:230300
def: "Excessive or inappropriate LACTATION in females or males, and not necessarily related to PREGNANCY. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is HYPERPROLACTINEMIA." [MESH:D005687]
synonym: "Galactorrheas" EXACT []
xref: MESH:D005687
is_a: DOID:9008748 ! Lactation Disorders

[Term]
id: DOID:9002091
name: Paragangliomas 5
synonym: "PGL5" EXACT []
synonym: "pheochromocytoma/paraganglioma syndrome 5" EXACT []
synonym: "PPGL5" EXACT []
xref: MIM:614165
is_a: DOID:0050773 ! paraganglioma

[Term]
id: DOID:9002092
name: Tubular Aggregate Myopathies
synonym: "myopathy with tubular aggregates" EXACT []
synonym: "TAM" EXACT []
synonym: "tubular aggregate myopathy" EXACT []
xref: GARD:3884
xref: ORDO:2593
is_a: DOID:423 ! myopathy
created_by: mtutaj
creation_date: 2020-06-18T19:20:14Z

[Term]
id: DOID:9002093
name: Lysine Intolerance
xref: MESH:C563201
is_a: DOID:9274 ! hyperlysinemia

[Term]
id: DOID:9002094
name: HIV Enteropathy
def: "A syndrome characterized by chronic, well-established DIARRHEA (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an HIV-positive individual. It is thought to be due to direct or indirect effects of HIV on the enteric mucosa. HIV enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)" [MESH:D019053]
synonym: "AIDS-Associated Enteropathies" EXACT []
synonym: "AIDS Associated Enteropathy" EXACT []
synonym: "AIDS Enteropathies" EXACT []
synonym: "AIDS Enteropathy" EXACT []
synonym: "HIV-Associated Enteropathies" EXACT []
synonym: "HIV Associated Enteropathy" EXACT []
synonym: "HIV Enteropathies" EXACT []
synonym: "Idiopathic AIDS Enteropathies" EXACT []
synonym: "Idiopathic AIDS Enteropathy" EXACT []
xref: EFO:0007311
xref: MESH:D019053
is_a: DOID:225 ! syndrome
is_a: DOID:526 ! human immunodeficiency virus infectious disease
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:9002095
name: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES
def: "This disease is an autosomal recessive disorder characterized by global developmental delay apparent from early childhood." [MIM:619470]
synonym: "NEDMOSBA" EXACT []
xref: MIM:619470
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2021-10-21T15:15:55Z

[Term]
id: DOID:9002096
name: Foot Injuries
def: "General or unspecified injuries involving the foot." [MESH:D018409]
synonym: "Foot Injury" EXACT []
synonym: "Turf Toe" EXACT []
synonym: "Turf Toes" EXACT []
xref: MESH:D018409
is_a: DOID:9008911 ! Leg Injuries

[Term]
id: DOID:9002097
name: High Cardiac Output
def: "A state of elevated cardiac output due to conditions of either increased hemodynamic demand or reduced cardiac oxygen output. These conditions may include ANEMIA; ARTERIOVENOUS FISTULA; THYROTOXICOSIS; PREGNANCY; EXERCISE; FEVER; and HYPOXIA. In time, compensatory changes of the heart can lead to pathological form of high cardiac output and eventual HEART FAILURE." [MESH:D016534]
synonym: "High Cardiac Outputs" EXACT []
xref: MESH:D016534
is_a: DOID:114 ! heart disease
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9002098
name: Tick-Borne Diseases
def: "Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic." [MESH:D017282]
synonym: "Tick-Borne Disease" EXACT []
synonym: "Tick-Borne Infection" EXACT []
synonym: "Tick Borne Infections" EXACT []
xref: MESH:D017282
is_a: DOID:2789 ! parasitic protozoa infectious disease
is_a: DOID:9007579 ! Arbovirus Infections
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9002099
name: Thalamic Degeneration Symmetrical Infantile
alt_id: MIM:273490
synonym: "Thalamic Degeneration, Symmetric Infantile" EXACT []
xref: MESH:C536504
is_a: DOID:4662 ! thalamic disease

[Term]
id: DOID:9002102
name: chemotherapy-induced alopecia
synonym: "chemotherapy-induced hair loss" EXACT []
xref: EFO:0005400
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions
is_a: DOID:987 ! alopecia
created_by: slaulede
creation_date: 2023-01-12T12:42:02Z

[Term]
id: DOID:9002103
name: Spontaneous Perforation
def: "A pathological hole in an organ, blood vessel or other soft part of the body, occurring in the absence of external force." [MESH:D000072663]
synonym: "Spontaneous Perforations" EXACT []
xref: MESH:D000072663
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9002104
name: Chromosome 21, Monosomy 21q22
synonym: "Deletion 21q22" EXACT []
synonym: "Monosomy 21q22" EXACT []
xref: MESH:C537110
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9002106
name: Pneumococcal Pneumonia
def: "A febrile disease caused by STREPTOCOCCUS PNEUMONIAE." [MESH:D011018]
synonym: "Pneumococcal Pneumonias" EXACT []
xref: EFO:1001474
xref: MESH:D011018
is_a: DOID:874 ! bacterial pneumonia
is_a: DOID:9000989 ! Pneumococcal Infections

[Term]
id: DOID:9002107
name: Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53
xref: MESH:C538201
xref: RDO:0004144
is_a: DOID:0060140 ! cortical deafness

[Term]
id: DOID:9002108
name: Camptodactyly Vertebral Fusion
synonym: "Camptodactyly and sacral vertebral fusion" EXACT []
xref: MESH:C537973
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9002109
name: STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS
def: "A disease characterized by small head circumference with abnormalities in brain anatomy including variable deficiency of the corpus callosum (including agenesis), abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial rhombencephalosynapsis (absence of the cerebellar vermis with fusion of the cerebellar hemispheres). Intellectual development is moderately to severely impaired." [MIM:618736]
synonym: "BAIDCS" EXACT []
xref: MIM:618736
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2340 ! craniosynostosis
created_by: slaulede
creation_date: 2020-02-17T14:49:11Z

[Term]
id: DOID:9002110
name: Laryngismus
def: "A disorder in which the adductor muscles of the VOCAL CORDS exhibit increased activity leading to laryngeal spasm. Laryngismus causes closure of the VOCAL FOLDS and airflow obstruction during inspiration." [MESH:D007826]
synonym: "Laryngeal Spasm" EXACT []
synonym: "Laryngeal Spasms" EXACT []
synonym: "Laryngospasm" EXACT []
synonym: "Laryngospasms" EXACT []
xref: MESH:D007826
is_a: DOID:9004183 ! Vocal Cord Dysfunction

[Term]
id: DOID:9002111
name: Dyssomnias
def: "A broad category of sleep disorders characterized by either hypersomnolence or insomnia. The three major subcategories include intrinsic (i.e., arising from within the body) (SLEEP DISORDERS, INTRINSIC), extrinsic (secondary to environmental conditions or various pathologic conditions), and disturbances of circadian rhythm. (From Thorpy, Sleep Disorders Medicine, 1994, p187)" [MESH:D020920]
synonym: "Adjustment Sleep Disorder" EXACT []
synonym: "Adjustment Sleep Disorders" EXACT []
synonym: "Dyssomnia" EXACT []
synonym: "Environmental Sleep Disorder" EXACT []
synonym: "Environmental Sleep Disorders" EXACT []
synonym: "Extrinsic Sleep Disorder" EXACT []
synonym: "Extrinsic Sleep Disorders" EXACT []
synonym: "Limit Setting Sleep Disorder" EXACT []
synonym: "Limit-Setting Sleep Disorders" EXACT []
synonym: "Nocturnal Eating Drinking Syndrome" EXACT []
synonym: "Nocturnal Eating-Drinking Syndromes" EXACT []
xref: MESH:D020920
is_a: DOID:535 ! sleep disorder

[Term]
id: DOID:9002112
name: Wiedemann-Steiner syndrome
def: "This disease is a congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature; consistent facial features, including long eyelashes, thick or arched eyebrows with a lateral flare, broad nasal bridge, and downslanting and vertically narrow palpebral fissures; mild to moderate intellectual disability; behavioral difficulties; and hypertrichosis on the back." []
synonym: "Growth Deficiency and Mental Retardation with Facial Dysmorphism" EXACT []
synonym: "hairy elbows, short stature, facial dysmorphism, and developmental delay" EXACT []
synonym: "KMT2A-RELATED CONDITION" EXACT []
synonym: "WDSTS" EXACT []
xref: MESH:C565358
xref: MIM:605130
xref: MONDO:0011518
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002113
name: Progressive Myoclonic Epilepsy 2B
xref: MESH:C564976
is_a: DOID:891 ! progressive myoclonus epilepsy

[Term]
id: DOID:9002114
name: Charcot-Marie-Tooth Disease Axonal Type 2HH
def: "An autosomal dominant peripheral neuropathy characterized predominantly by onset of vocal cord weakness resulting in stridor in infancy or early childhood. Caused by heterozygous mutation in the JAG1 gene on chromosome 20p12. (OMIM)" []
synonym: "Charcot-Marie-Tooth neuropathy type 2HH" EXACT []
synonym: "CMT2HH" EXACT []
xref: MIM:619574
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2
created_by: mtutaj
creation_date: 2021-10-27T16:51:00Z

[Term]
id: DOID:9002115
name: Cutis Verticis Gyrata and Mental Deficiency
alt_id: MIM:219300
synonym: "cutis verticis gyrata and mental retardation" EXACT []
xref: MESH:C565661
is_a: DOID:1059 ! intellectual disability
is_a: DOID:3136 ! scalp dermatosis

[Term]
id: DOID:9002116
name: Congenitally Corrected Transposition of the Great Arteries
synonym: "Congenitally Corrected TGA" EXACT []
synonym: "Congenitally Corrected TGAs" EXACT []
synonym: "Congenitally corrected transposition of the great vessels" EXACT []
xref: MESH:D000080041
is_a: DOID:0060770 ! dextro-looped transposition of the great arteries

[Term]
id: DOID:9002117
name: Hypoalphalipoproteinemias
alt_id: DOID:9002708
alt_id: MIM:605201
alt_id: RDO:0004371
def: "Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS." [MESH:D052456]
synonym: "familial alpha lipoprotein deficiency disease" EXACT []
synonym: "Familial Hypoalphalipoproteinemia" EXACT []
synonym: "Familial Hypoalphalipoproteinemias" EXACT []
synonym: "FHA" EXACT []
synonym: "FHD" EXACT []
synonym: "HDLC" EXACT []
synonym: "HDL Cholesterol, Low Serum" EXACT []
synonym: "HDLD" EXACT []
synonym: "HDL Lipoprotein Deficiency Disease" EXACT []
synonym: "HIGH DENSITY LIPOPROTEIN DEFICIENCY" EXACT []
synonym: "Hypo alpha Lipoproteinemia" EXACT []
synonym: "Hypoalphalipoproteinemia" EXACT []
synonym: "hypo alpha lipoproteinemias" EXACT []
synonym: "PLTP POLYMORPHISM" RELATED []
xref: MESH:D052456
is_a: DOID:1387 ! hypolipoproteinemia

[Term]
id: DOID:9002118
name: Lectin Complement Activation Pathway Defects
xref: MIM:PS614372
is_a: DOID:626 ! complement deficiency
created_by: mtutaj
creation_date: 2022-08-08T11:30:08Z

[Term]
id: DOID:9002119
name: Malignant Hypothermia
synonym: "Hypothermia due to anesthetic" EXACT []
synonym: "Malignant hypothermia due to anesthesia" EXACT []
is_a: DOID:9002395 ! Hypothermia
created_by: rgd
creation_date: 2016-01-14T00:00:00Z

[Term]
id: DOID:9002120
name: Congenital Mydriasis
alt_id: MIM:159420
synonym: "BILATERAL CONGENITAL MYDRIASIS" NARROW []
xref: HP:0007932
xref: MESH:C563221
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9007554 ! Mydriasis

[Term]
id: DOID:9002121
name: Spinocerebellar Ataxias
def: "A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)" [MESH:D020754]
synonym: "cerebellar degeneration with slow eye movements" EXACT []
synonym: "dominantly-inherited spinocerebellar ataxia" EXACT []
synonym: "dominantly inherited spinocerebellar ataxias" EXACT []
synonym: "SDSEM AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13" NARROW []
synonym: "spinocerebellar ataxia" EXACT []
synonym: "SPINOCEREBELLAR ATAXIA, DOMINANT" NARROW []
synonym: "spinocerebellar ataxia, recessive" NARROW []
synonym: "spinocerebellar atrophies" EXACT []
synonym: "spinocerebellar atrophy" EXACT []
xref: EFO:0002624
xref: MESH:D020754
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9277 ! primary cerebellar degeneration

[Term]
id: DOID:9002122
name: Nanophthalmos 2
alt_id: MIM:609549
synonym: "Nanophthalmia 2" EXACT []
synonym: "Nanophthalmos, Autosomal Recessive" EXACT []
synonym: "NNO2" EXACT []
xref: MESH:C563700
is_a: DOID:0080634 ! nanophthalmos

[Term]
id: DOID:9002123
name: Familial Hypobetalipoproteinemia, Apolipoprotein B
def: "An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." [MESH:D052476]
synonym: "Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type" EXACT []
synonym: "Apolipoprotein B Deficiencies" EXACT []
synonym: "Apolipoprotein B Deficiency" EXACT []
synonym: "Apolipoprotein B Deficiency Disease" EXACT []
synonym: "Hypobetalipoproteinemia, Familial, Apo B" EXACT []
xref: EFO:1001789
xref: MESH:D052476
xref: RDO:0007592
is_a: DOID:1390 ! hypobetalipoproteinemia

[Term]
id: DOID:9002124
name: IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA
def: "This disease is primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly." [MIM:618042]
synonym: "IMD100" EXACT []
synonym: "OAS1-RELATED CONDITION" EXACT []
synonym: "PAPHG" EXACT []
synonym: "PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA" EXACT []
xref: MIM:618042
is_a: DOID:11162 ! respiratory failure
is_a: DOID:2583 ! agammaglobulinemia
is_a: DOID:9001039 ! Leukocytosis
is_a: DOID:9002720 ! Splenomegaly
created_by: slaulede
creation_date: 2022-07-07T17:14:36Z

[Term]
id: DOID:9002125
name: Hip Socket Neuropathy
synonym: "Deep gluteal syndrome" EXACT []
synonym: "Pseudosciatica" EXACT []
synonym: "Wallet sciatica" EXACT []
xref: MESH:C531783
xref: RDO:0000198
is_a: DOID:9000452 ! Piriformis Muscle Syndrome
is_a: DOID:9007194 ! Sciatica

[Term]
id: DOID:9002126
name: Osteosclerosis with Ichthyosis and Premature Ovarian Failure
alt_id: MIM:609993
synonym: "Sclerosing dysplasia of bone with ichthyosis and premature ovarian failure" EXACT []
xref: MESH:C536064
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1702 ! ichthyosis vulgaris
is_a: DOID:5426 ! primary ovarian insufficiency
is_a: DOID:9007896 ! Sclerosis

[Term]
id: DOID:9002127
name: Osteofibrous Dysplasia
alt_id: DOID:9006748
alt_id: MESH:C563787
alt_id: MIM:607278
synonym: "bowing of tibia with pseudarthrosis and pectus excavatum" EXACT []
synonym: "OFD" EXACT []
synonym: "OSFD" EXACT []
synonym: "osteofibrous dysplasia, susceptibility to" RELATED []
xref: MESH:C563276
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9001510 ! Funnel Chest
is_a: DOID:9007769 ! Pseudarthrosis
is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital

[Term]
id: DOID:9002128
name: Adrenogenital Syndrome
def: "Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONADS or the ADRENAL GLANDS, such as in CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. Due to abnormal steroid biosynthesis, clinical features include VIRILISM in females; FEMINIZATION in males; or precocious sexual development in children." [MESH:D047808]
synonym: "Adrenogenital Syndromes" EXACT []
xref: MESH:D047808
xref: RDO:0004758
is_a: DOID:1923 ! disorder of sexual development
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9002129
name: Candidiasis, Familial, 6
synonym: "CANDF6" EXACT []
synonym: "familial chronic mucocutaneous candidiasis, autosomal dominant" BROAD []
xref: MIM:613956
is_a: DOID:2058 ! chronic mucocutaneous candidiasis

[Term]
id: DOID:9002130
name: Bisphosphonate-Associated Osteonecrosis of the Jaw
def: "Necrotic jaws or other maxillofacial skeleton necrosis associated with bisphosphonate use (see BISPHOSPHONATES). Injury, dental procedures, and trauma can trigger the necrotic process." [MESH:D059266]
synonym: "Bisphosphonate-Associated Osteonecroses" EXACT []
synonym: "Bisphosphonate Associated Osteonecrosis" EXACT []
synonym: "Bisphosphonate Associated Osteonecrosis of the Jaws" EXACT []
synonym: "Bisphosphonate Induced Osteonecrosis of the Jaw" EXACT []
synonym: "Bisphosphonate Induced Osteonecrosis of the Jaws" EXACT []
synonym: "Bisphosphonate Osteonecroses" EXACT []
synonym: "Bisphosphonate Osteonecrosis" EXACT []
synonym: "Bisphosphonate Related Osteonecrosis of the Jaw" EXACT []
synonym: "Osteonecrosis of the Jaws, Bisphosphonate Related" EXACT []
xref: MESH:D059266
xref: RDO:0010003
is_a: DOID:10159 ! osteonecrosis
is_a: DOID:9003876 ! Jaw Diseases

[Term]
id: DOID:9002132
name: Congenital Disorder of Glycosylation Type IIw
def: "An autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. Caused by a heterozygous mutation in the G6PT1 gene, which encodes glucose-6-phosphate translocase, on chromosome 11q23. (OMIM)" []
synonym: "CDG2W" EXACT []
xref: MIM:619525
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
created_by: mtutaj
creation_date: 2021-09-16T14:59:07Z

[Term]
id: DOID:9002133
name: Singleton-Merten Syndrome 2
def: "A syndrome with variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies. (OMIM)" []
synonym: "SGMRT2" EXACT []
xref: MIM:616298
is_a: DOID:9007304 ! Singleton Merten Syndrome
created_by: rgd
creation_date: 2017-04-06T00:00:00Z

[Term]
id: DOID:9002134
name: Heart Murmurs
def: "Heart sounds caused by vibrations resulting from the flow of blood through the heart. Heart murmurs can be examined by HEART AUSCULTATION, and analyzed by their intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc)." [MESH:D006337]
synonym: "Cardiac Murmur" EXACT []
synonym: "Cardiac Murmurs" EXACT []
synonym: "Diastolic Murmur" EXACT []
synonym: "Diastolic Murmurs" EXACT []
synonym: "Heart Murmur" EXACT []
synonym: "Innocent Murmur" EXACT []
synonym: "Innocent Murmurs" EXACT []
xref: MESH:D006337
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9002135
name: Congenital Infantile Lactic Acidosis due to LAD Deficiency
alt_id: MIM:246900
synonym: "dihydrolipoamide dehydrogenase deficiency" EXACT []
synonym: "DLDD" EXACT []
synonym: "DLD deficiency" EXACT []
synonym: "DLD-RELATED DISORDER" EXACT []
synonym: "E3 Deficiency" EXACT []
synonym: "Lipoamide Dehydrogenase Deficiency, Lactic Acidosis due to" EXACT []
synonym: "maple syrup urine disease, type 3" EXACT []
synonym: "maple syrup urine disease, type III" EXACT []
xref: MESH:C573012
is_a: DOID:9004872 ! Congenital Infantile Lactic Acidosis
is_a: DOID:9269 ! maple syrup urine disease

[Term]
id: DOID:9002137
name: Infectious Ectromelia
def: "A viral infection of mice, causing edema and necrosis followed by limb loss." [MESH:D004482]
synonym: "Mouse Pox" EXACT []
synonym: "Mousepox" EXACT []
xref: EFO:0007325
xref: MESH:D004482
is_a: DOID:8729 ! milker's nodule
is_a: DOID:9004990 ! Rodent Diseases

[Term]
id: DOID:9002138
name: Spinal Cord Reperfusion Injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the spinal cord, including swelling; hemorrhage; necrosis; and damage from free radicals." []
synonym: "spinal cord ischemia-reperfusion injury" EXACT []
is_a: DOID:9004009 ! Reperfusion Injury
is_a: DOID:9004922 ! Spinal Cord Ischemia
created_by: rgd
creation_date: 2015-07-17T00:00:00Z

[Term]
id: DOID:9002139
name: Systemic Autoinflammatory Disease, X-Linked
def: "Thuis disease is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Laboratory studies show hypogammaglobulinemia, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature." [MIM:301081]
synonym: "SAIDX" EXACT []
xref: MIM:301081
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: slaulede
creation_date: 2022-07-29T10:27:09Z

[Term]
id: DOID:9002140
name: Microtia, Meatal Atresia and Conductive Deafness
alt_id: MIM:251800
synonym: "Familial microtia and meatal atresia" EXACT []
synonym: "Familial microtia with meatal atresia and conductive deafness" EXACT []
synonym: "Gupta Patton syndrome" EXACT []
synonym: "Microtia meatal atresia deafness dominant" EXACT []
synonym: "Microtia with meatal atresia and conductive deafness" EXACT []
xref: MESH:C537469
is_a: DOID:9001502 ! Congenital Microtia
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9002141
name: Anaplasia
def: "Loss of structural differentiation and useful function of neoplastic cells." [MESH:D000708]
synonym: "Anaplasias" EXACT []
xref: MESH:D000708
is_a: DOID:9008192 ! Neoplastic Processes

[Term]
id: DOID:9002143
name: Visceral Heterotaxy 2, Autosomal
synonym: "HTX" EXACT []
synonym: "HTX2" EXACT []
xref: MIM:605376
is_a: DOID:0050545 ! visceral heterotaxy

[Term]
id: DOID:9002144
name: Endoleak
def: "Postoperative hemorrhage from an endovascular AORTIC ANEURYSM repaired with endoluminal placement of stent grafts (BLOOD VESSEL PROSTHESIS IMPLANTATION). It is associated with pressurization, expansion, and eventual rupture of the aneurysm." [MESH:D057867]
synonym: "Endoleaks" EXACT []
synonym: "Perigraft Leak" EXACT []
synonym: "Perigraft Leaks" EXACT []
xref: MESH:D057867
is_a: DOID:9001665 ! Aneurysm
is_a: DOID:9008517 ! Postoperative Hemorrhage

[Term]
id: DOID:9002145
name: Triphalangeal Thumbs with Brachyectrodactyly
alt_id: MIM:190680
synonym: "Triphalangeal thumb and brachy-ectrodactyly syndrome" EXACT []
synonym: "Triphalangeal thumb and brachyectrodactyly syndrome" EXACT []
synonym: "Triphalangeal Thumbs Brachyectrodactyly" EXACT []
xref: MESH:C536564
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002146
name: Subungual Exostoses
alt_id: MIM:603656
synonym: "Dupuytren subungual exostosis" EXACT []
xref: MESH:C535723
is_a: DOID:203 ! exostosis
is_a: DOID:4123 ! nail disease
is_a: DOID:9004389 ! Bone Neoplasms

[Term]
id: DOID:9002147
name: Dysmyelination with Jaundice
alt_id: MIM:224250
xref: MESH:C565610
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:1969 ! cerebral palsy
is_a: DOID:9004898 ! Jaundice
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases

[Term]
id: DOID:9002148
name: Aspergillus Niger Infection
synonym: "Aspergillus niger infection, pulmonary" EXACT []
xref: MESH:C535390
is_a: DOID:13564 ! aspergillosis
is_a: DOID:9005724 ! Fungal Lung Diseases

[Term]
id: DOID:9002150
name: RNA Virus Infections
def: "Diseases caused by RNA VIRUSES." [MESH:D012327]
synonym: "RNA Virus Infection" EXACT []
xref: MESH:D012327
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9002152
name: IFAP Syndrome
synonym: "ichthyosis follicularis, atrichia, and photophobia syndrome" EXACT []
synonym: "Ichthyosis Follicularis Atrichia Photophobia Syndrome" EXACT []
xref: GARD:2952
xref: MIM:PS308205
xref: ORDO:2273
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:9003137 ! Photophobia
is_a: DOID:987 ! alopecia
created_by: mtutaj
creation_date: 2021-02-15T09:53:20Z

[Term]
id: DOID:9002153
name: Chronic Allograft Dysfunction
def: "Chronic and progressive pathophysiological changes associated with solid organ transplantation." []
synonym: "CAD" EXACT []
is_a: DOID:9004009 ! Reperfusion Injury
is_a: DOID:9004283 ! Transplant Rejection

[Term]
id: DOID:9002154
name: Crossed Polysyndactyly
alt_id: MIM:175690
xref: MESH:C566773
is_a: DOID:11193 ! syndactyly
is_a: DOID:1148 ! polydactyly

[Term]
id: DOID:9002155
name: Breakthrough Pain
def: "Acute pain that comes on rapidly despite the use of pain medication." [MESH:D059390]
synonym: "Breakthrough Pains" EXACT []
xref: MESH:D059390
xref: RDO:0010016
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9002156
name: Takao VCF Syndrome
synonym: "Conotruncal Anomaly Face Syndrome" EXACT []
synonym: "Conotruncal Anomaly Face Syndrome (CTAF)" EXACT []
xref: MESH:C566051
is_a: DOID:11198 ! DiGeorge syndrome

[Term]
id: DOID:9002157
name: Erythremia, Alpha-Globin Type
xref: MESH:C564195
is_a: DOID:8997 ! polycythemia vera

[Term]
id: DOID:9002158
name: Visceral Heterotaxy 11, Autosomal
def: "Characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Caused by homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23." [MIM:619608]
synonym: "autosomal visceral heterotaxy 11 with male infertility" EXACT []
synonym: "HTX11" EXACT []
xref: MIM:619608
is_a: DOID:0050545 ! visceral heterotaxy
is_a: DOID:12336 ! male infertility
created_by: mtutaj
creation_date: 2021-11-09T14:26:18Z

[Term]
id: DOID:9002159
name: Liver Reperfusion Injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the liver, including swelling; hemorrhage; necrosis; and damage from free radicals." []
synonym: "Hepatic Ischemia-Reperfusion Injury" EXACT []
synonym: "Hepatic Reperfusion Injury" EXACT []
synonym: "Liver Ischemia-Reperfusion Injury" EXACT []
is_a: DOID:9004009 ! Reperfusion Injury
is_a: DOID:9008691 ! Liver Injury

[Term]
id: DOID:9002160
name: Barotrauma
def: "Injury following pressure changes; includes injury to the eustachian tube, ear drum, lung and stomach." [MESH:D001469]
synonym: "Barotraumas" EXACT []
xref: MESH:D001469
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9002161
name: Gender Dysphoria
def: "A marked difference between the individual’s expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5)" [MESH:D000068116]
xref: MESH:D000068116
xref: RDO:0016008
is_a: DOID:0060043 ! sexual health disorder

[Term]
id: DOID:9002162
name: Carotid Body Tumor
def: "Benign paraganglioma at the bifurcation of the COMMON CAROTID ARTERIES. It can encroach on the parapharyngeal space and produce dysphagia, pain, and cranial nerve palsies." [MESH:D002345]
synonym: "Benign Carotid Body Paraganglioma" EXACT []
synonym: "Carotid Body Paraganglioma" EXACT []
synonym: "carotid body paragangliomas" EXACT []
synonym: "carotid body paraganglioma, somatic" RELATED []
synonym: "carotid body tumors" EXACT []
xref: EFO:1000108
xref: MESH:D002345
is_a: DOID:0050773 ! paraganglioma

[Term]
id: DOID:9002163
name: Silver-Russell Syndrome 3
synonym: "GRDF" EXACT []
synonym: "IGF2-RELATED CONDITION" EXACT []
synonym: "severe growth restriction with distinctive facies" EXACT []
synonym: "SRS3" EXACT []
xref: MIM:616489
is_a: DOID:14681 ! Silver-Russell syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9002231 ! Fetal Growth Retardation
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9002165
name: Diabetic Nephropathies
def: "KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE." [MESH:D003928]
synonym: "diabetic glomerulosclerosis" EXACT []
synonym: "Diabetic Kidney Disease" EXACT []
synonym: "Diabetic Kidney Diseases" EXACT []
synonym: "Diabetic Nephropathy" EXACT []
synonym: "diabetic nephropathy, susceptibility to" RELATED []
synonym: "Intracapillary Glomerulosclerosis" EXACT []
synonym: "Kimmelstiel Wilson disease" EXACT []
synonym: "Kimmelstiel Wilson syndrome" EXACT []
synonym: "nodular glomerulosclerosis" EXACT []
synonym: "type 1 diabetes nephropathy" NARROW []
synonym: "type 2 diabetes nephropathy" NARROW []
xref: EFO:0000401
xref: EFO:0004996
xref: EFO:0004997
xref: MESH:D003928
xref: NCI:C84417
is_a: DOID:557 ! kidney disease
is_a: DOID:9002661 ! Diabetes Complications

[Term]
id: DOID:9002166
name: Pseudoangiomatous Stromal Hyperplasia
synonym: "Mammary pseudoangiomatous stromal hyperplasia" EXACT []
synonym: "Pseudoangiomatous stromal hyperplasia of the breast" EXACT []
xref: MESH:C535824
xref: RDO:0001142
is_a: DOID:3463 ! breast disease
is_a: DOID:9002221 ! Hyperplasia
is_a: DOID:9004079 ! Angiomatosis

[Term]
id: DOID:9002168
name: Conducted Energy Weapon Injuries
def: "The injuries caused by conducted energy weapons such as stun guns, shock batons, and cattle prods." [MESH:D057667]
synonym: "Stun Gun Injuries" EXACT []
synonym: "Stun Gun Injury" EXACT []
synonym: "TASER Injuries" EXACT []
synonym: "TASER Injury" EXACT []
xref: MESH:D057667
xref: RDO:0007789
is_a: DOID:9001588 ! Electric Injuries

[Term]
id: DOID:9002170
name: Experimental Neoplasms
def: "Experimentally induced new abnormal growth of TISSUES in animals to provide models for studying human neoplasms." [MESH:D009374]
synonym: "Experimental Neoplasm" EXACT []
xref: MESH:D009374
is_a: DOID:14566 ! disease of cellular proliferation
is_a: DOID:9006205 ! Animal Disease Models

[Term]
id: DOID:9002171
name: Diencephalic-Mesencephalic Junction Dysplasia Syndromes
synonym: "DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA" EXACT []
synonym: "diencephalic-mesencephalic junction dysplasia syndrome" EXACT []
xref: MIM:PS251280
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2019-11-21T11:49:24Z

[Term]
id: DOID:9002172
name: Sacral Meningocele Conotruncal Heart Defects
synonym: "Kousseff syndrome" EXACT []
xref: MESH:C537223
is_a: DOID:0060326 ! myelomeningocele
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002173
name: osteogenesis imperfecta type 23
def: "This disease is a mild recessive form of OI, characterized by osteopenia with or without recurrent fractures, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regress after early childhood; osteopenia persists, but responds well to bisphosphonate." [MIM:620639]
synonym: "OI23" EXACT []
synonym: "OSTEOGENESIS IMPERFECTA, TYPE XXIII" EXACT []
xref: MIM:620639
is_a: DOID:12347 ! osteogenesis imperfecta
created_by: slaulederkind
creation_date: 2024-02-09T10:09:35Z

[Term]
id: DOID:9002174
name: Disease Susceptibility
def: "A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases." [MESH:D004198]
synonym: "Diatheses" EXACT []
synonym: "Diathesis" EXACT []
synonym: "Disease Susceptibilities" EXACT []
xref: MESH:D004198
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9002175
name: Deafness with Anhidrotic Ectodermal Dysplasia
alt_id: MIM:125050
xref: MESH:C565119
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9002176
name: Paroxysmal Hemicrania
def: "A primary headache disorder that is similar to the CLUSTER HEADACHE with unilateral head pain, but differs by its multiple short severe attacks. It is usually seen in females, and may be responsive to non-steroidal-anti-inflammatory drugs (NSAIDS)." [MESH:D051302]
synonym: "Chronic Paroxysmal Hemicrania" EXACT []
synonym: "Chronic Paroxysmal Hemicranias" EXACT []
synonym: "Episodic Paroxysmal Hemicrania" EXACT []
synonym: "Episodic Paroxysmal Hemicranias" EXACT []
synonym: "Paroxysmal Hemicranias" EXACT []
xref: EFO:1001822
xref: MESH:D051302
xref: RDO:0007580
is_a: DOID:9006338 ! Trigeminal Autonomic Cephalalgias

[Term]
id: DOID:9002177
name: Walbaum Titran Durieux Crepin Syndrome
xref: MESH:C536566
xref: RDO:0002185
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002178
name: Reticuloendotheliosis, X-Linked
alt_id: MIM:312500
synonym: "Reticuloendotheliosis" EXACT []
xref: MESH:C538362
xref: RDO:0004334
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:9002179
name: Glomerular Hyperfiltration
def: "An increase in the glomerular filtration rate (GFR) that is associated with type 1 diabetes mellitus, pregnancy, kidney diseases, blood disorders, obesity, and others." []
xref: RDO:9000067
is_a: DOID:9000104 ! Glomerular Diseases

[Term]
id: DOID:9002180
name: Familial Hyperchylomicronemia Syndrome
synonym: "Hyperlipoproteinemia, type 1" EXACT []
xref: MESH:C538489
is_a: DOID:14118 ! familial lipoprotein lipase deficiency
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9002182
name: Cafe au lait Spots, Multiple
alt_id: MIM:114030
xref: MESH:C537421
xref: RDO:0003264
is_a: DOID:9002453 ! Cafe-au-Lait Spots

[Term]
id: DOID:9002183
name: Heterotopic Pregnancy
def: "MULTIPLE PREGNANCY with EMBRYO IMPLANTATION occuring at different locations, involving both an intrauterine site and an extrauterine (ECTOPIC PREGNANCY) site." [MESH:D063192]
synonym: "Heterotopic Pregnancies" EXACT []
xref: MESH:D063192
is_a: DOID:0060329 ! ectopic pregnancy

[Term]
id: DOID:9002184
name: Megalencephaly with Dysmyelination
alt_id: MIM:249240
synonym: "Megalencephaly with Diffuse White Matter Hypodensity" EXACT []
xref: MESH:C565408
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases

[Term]
id: DOID:9002185
name: Sclerosing Bone Dysplasia, Mental Retardation
synonym: "mixed sclerosing bone dysplasia and mental retardation" EXACT []
xref: MESH:C537523
is_a: DOID:0080001 ! bone disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9007896 ! Sclerosis

[Term]
id: DOID:9002186
name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
alt_id: RDO:9001230
def: "An overgrowth syndrome comprising megalencephaly, hydrocephalus, polymicrogyria, and sometimes polydactyly. (OMIM)" []
synonym: "megalancephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" EXACT []
synonym: "MPPH2" EXACT []
xref: MIM:615937
is_a: DOID:9002403 ! Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
created_by: rgd
creation_date: 2016-08-10T00:00:00Z

[Term]
id: DOID:9002188
name: Hypoinsulinemia
def: "A decreased concentration of insulin in the blood." []
xref: RDO:9000335
is_a: DOID:4194 ! glucose metabolism disease

[Term]
id: DOID:9002189
name: High Myopia
def: "This is a severe form of myopia in which the eyeball stretches and becomes too long. This can lead to holes or tears in the retina and further complications." []
synonym: "severe myopia" EXACT []
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9002190
name: Meckel Syndrome 12
synonym: "KIF14-RELATED CONDITION" BROAD []
synonym: "Meckel Syndrome, Type 12" EXACT []
synonym: "MKS12" EXACT []
xref: MIM:616258
is_a: DOID:0050778 ! Meckel syndrome
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:9000983 ! Encephalocele
created_by: rgd
creation_date: 2017-05-04T00:00:00Z

[Term]
id: DOID:9002191
name: Thymic Aplasia with Fetal Death
alt_id: MIM:274210
xref: MESH:C564768
is_a: DOID:9001916 ! Fetal Death
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002192
name: Urticaria, Familial Localized Heat
alt_id: MIM:191950
xref: MESH:C566011
is_a: DOID:1555 ! urticaria

[Term]
id: DOID:9002193
name: Myopia 8
alt_id: MIM:609257
synonym: "MYP8" EXACT []
xref: MESH:C563760
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9002194
name: Nonmedullary Thyroid Carcinoma, with or without Cell Oxyphilia
alt_id: MIM:603386
synonym: "TCO" EXACT []
synonym: "TCO1" EXACT []
xref: MESH:C537842
xref: RDO:0003751
is_a: DOID:1781 ! thyroid cancer

[Term]
id: DOID:9002195
name: Atrial Dilation and Standstill
synonym: "atrial dilated cardiomyopathy with atrial standstill" EXACT []
synonym: "atrial standstill" RELATED []
is_a: DOID:0050700 ! cardiomyopathy

[Term]
id: DOID:9002198
name: Diarrhea 11
synonym: "congenital malabsorptive diarrhea 11" EXACT []
synonym: "DIAR11" EXACT []
synonym: "IDIS" EXACT []
synonym: "intractable diarrhea of infancy syndrome" EXACT []
xref: MIM:618662
is_a: DOID:9007847 ! Infantile Diarrhea
created_by: mtutaj
creation_date: 2019-11-15T11:08:11Z

[Term]
id: DOID:9002199
name: Paragangliomas 1
synonym: "familial paragangliomas, 1" EXACT []
synonym: "Paragangliomas, Familial Nonchromaffin, 1" EXACT []
synonym: "PGL1" EXACT []
synonym: "pheochromocytoma/paraganglioma syndrome 1" EXACT []
synonym: "PPGL1" EXACT []
xref: MIM:168000
is_a: DOID:0050773 ! paraganglioma

[Term]
id: DOID:9002200
name: Postaxial Polydactyly, Type A9
def: "A disease characterized by one or more posterior or postaxial digits. (OMIM)" []
synonym: "PAPA9" EXACT []
xref: EFO:0010250
xref: MIM:618219
xref: MONDO:0032603
is_a: DOID:9003071 ! Postaxial Polydactyly
created_by: slaulede
creation_date: 2019-01-16T16:57:23Z

[Term]
id: DOID:9002201
name: Maxillary Neoplasms
def: "Cancer or tumors of the MAXILLA or upper jaw." []
synonym: "maxillary neoplasm" EXACT []
xref: EFO:0007360
xref: MESH:D008441
is_a: DOID:9002484 ! Maxillary Diseases
is_a: DOID:9004594 ! Jaw Neoplasms

[Term]
id: DOID:9002202
name: Opsismodysplasia
alt_id: MIM:258480
def: "Opsismodysplasia is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death in utero or secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges." []
synonym: "DELAYED SKELETAL MATURATION" NARROW []
synonym: "OPSMD" EXACT []
xref: MESH:C537122
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9002204
name: Pseudorabies
def: "A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals." [MESH:D011557]
synonym: "Aujeszky's Disease" EXACT []
synonym: "Aujeszky Disease" EXACT []
synonym: "Aujeszkys Disease" EXACT []
xref: EFO:0007457
xref: MESH:D011557
is_a: DOID:9002834 ! Herpesviridae Infections
is_a: DOID:9003736 ! Central Nervous System Viral Diseases
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9002205
name: Periventricular Nodular Heterotopia 2
alt_id: MIM:608097
alt_id: RDO:0013309
synonym: "ARPHM" EXACT []
synonym: "Periventricular heterotopia, autosomal recessive" EXACT []
synonym: "Periventricular heterotopia with microcephaly" EXACT []
synonym: "Periventricular Heterotopia with Microcephaly, Autosomal Recessive" EXACT []
synonym: "PVNH2" EXACT []
xref: MESH:C564292
is_a: DOID:0050454 ! periventricular nodular heterotopia

[Term]
id: DOID:9002206
name: Double Nail for Fifth Toe
alt_id: MIM:126500
synonym: "petaloid toenail" EXACT []
xref: EFO:0007879
xref: MESH:C565090
is_a: DOID:4123 ! nail disease
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9002207
name: Renal Aminoacidurias
def: "A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved." [MESH:D000608]
synonym: "AMINOACIDURIA" EXACT []
synonym: "Renal Aminoaciduria" EXACT []
xref: EFO:1001149
xref: MESH:D000608
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:9002208
name: Familial Hyperbeta- and Prebetalipoproteinemia
xref: MESH:C566262
xref: RDO:0014664
is_a: DOID:9005519 ! Hyperlipoproteinemia Type II

[Term]
id: DOID:9002209
name: Skull Fractures
def: "Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED)." [MESH:D012887]
synonym: "Linear Skull Fracture" EXACT []
synonym: "Linear Skull Fractures" EXACT []
synonym: "Non Depressed Skull Fracture" EXACT []
synonym: "Non-Depressed Skull Fractures" EXACT []
synonym: "Skull Fracture" EXACT []
xref: EFO:1001425
xref: MESH:D012887
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9007621 ! Craniocerebral Trauma

[Term]
id: DOID:9002210
name: Granulosa Cell Tumor of the Ovary
synonym: "adult granulosa cell tumor of the ovary" EXACT []
synonym: "GCT of the ovary" EXACT []
synonym: "Granulosa theca cell tumor" EXACT []
synonym: "granulosa theca cell tumor of the ovary" EXACT []
xref: EFO:0006461
xref: MESH:C537296
xref: ORDO:99915
is_a: DOID:2999 ! granulosa cell tumor

[Term]
id: DOID:9002211
name: Hyperalgesia
def: "An increased sensation of pain or discomfort produced by mimimally noxious stimuli due to damage to soft tissue containing NOCICEPTORS or injury to a peripheral nerve." [MESH:D006930]
synonym: "Allodynia" EXACT []
synonym: "Allodynias, Tactile" EXACT []
synonym: "Allodynias, Thermal" EXACT []
synonym: "Hyperalgesia, Primary" EXACT []
synonym: "Hyperalgesias" EXACT []
synonym: "Hyperalgesia, Secondary" EXACT []
synonym: "Hyperalgesias, Mechanical" EXACT []
synonym: "Hyperalgesias, Primary" EXACT []
synonym: "Hyperalgesias, Secondary" EXACT []
synonym: "Hyperalgesias, Tactile" EXACT []
synonym: "Hyperalgesias, Thermal" EXACT []
synonym: "Hyperalgesic Sensations" EXACT []
synonym: "Mechanical Allodynia" EXACT []
synonym: "Mechanical Allodynias" EXACT []
synonym: "Mechanical Hyperalgesia" EXACT []
synonym: "pain hypersensitivity" EXACT []
synonym: "Tactile Allodynia" EXACT []
synonym: "Tactile Hyperalgesia" EXACT []
synonym: "Thermal Allodynia" EXACT []
synonym: "Thermal Hyperalgesia" EXACT []
xref: MESH:D006930
is_a: DOID:9000641 ! Pain
is_a: DOID:9008625 ! Somatosensory Disorders

[Term]
id: DOID:9002212
name: PICA Syndrome
synonym: "vertebral artery syndrome" EXACT []
xref: MESH:C538664
is_a: DOID:3522 ! lateral medullary syndrome

[Term]
id: DOID:9002213
name: Lymphatic Abnormalities
def: "Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels." [MESH:D044148]
synonym: "Lymphatic Abnormality" EXACT []
xref: MESH:D044148
is_a: DOID:75 ! lymphatic system disease
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9002214
name: Absent Duct of Santorini
synonym: "absent accessory pancreatic duct of Santorini" EXACT []
xref: MESH:C535567
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:9002215
name: Baetz-Greenwalt Syndrome
synonym: "Hypoplastic right-sided heart complex" EXACT []
xref: MESH:C537795
is_a: DOID:10907 ! microcephaly
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9005616 ! Micrognathism

[Term]
id: DOID:9002216
name: Central Nervous System Protozoal Infections
def: "Infections of the brain, spinal cord, or meninges by single celled organisms of the former subkingdom known as protozoa. The central nervous system may be the primary or secondary site of protozoal infection. These diseases may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." [MESH:D020808]
synonym: "Amebic Meningoencephalitides" EXACT []
synonym: "Amebic Meningoencephalitis" EXACT []
synonym: "Cerebral Protozoal Infection" EXACT []
synonym: "Cerebral Protozoal Infections" EXACT []
synonym: "Infection, Central Nervous System, Protozoal" EXACT []
synonym: "Protozoal Meningoencephalitides" EXACT []
synonym: "Protozoal Meningoencephalitis" EXACT []
xref: MESH:D020808
xref: RDO:0000264
is_a: DOID:2789 ! parasitic protozoa infectious disease
is_a: DOID:9004805 ! Central Nervous System Parasitic Infections

[Term]
id: DOID:9002217
name: Dermal Ridges, Nelson Syndrome
alt_id: MIM:125530
xref: MESH:C565110
is_a: DOID:225 ! syndrome
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9002219
name: Choroid Plexus Calcification with Mental Retardation
alt_id: MIM:215480
synonym: "choroido-cerebral calcification syndrome with retardation" EXACT []
synonym: "choroid plexus calcification and mental retardation" EXACT []
xref: MESH:C535357
is_a: DOID:1059 ! intellectual disability
is_a: DOID:182 ! calcinosis

[Term]
id: DOID:9002220
name: Forney Robinson Pascoe Syndrome
synonym: "Congenital heart disease, deafness, and skeletal malformations" EXACT []
xref: MESH:C537269
is_a: DOID:11502 ! mitral valve insufficiency
is_a: DOID:225 ! syndrome
is_a: DOID:4254 ! osteosclerosis
is_a: DOID:9006380 ! Bilateral Hearing Loss
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002221
name: Hyperplasia
def: "An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells." [MESH:D006965]
synonym: "Columnar Cell Hyperplasia of the Breast" NARROW []
synonym: "Flat Urothelial Hyperplasia" NARROW []
synonym: "Hyperplasias" EXACT []
xref: EFO:0000536
xref: EFO:1000199
xref: EFO:1000259
xref: MESH:D006965
xref: NCI:C3113
xref: RDO:0001143
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9002222
name: Acrodysplasia Scoliosis
alt_id: RDO:0004123
xref: MESH:C538180
is_a: DOID:0060249 ! scoliosis
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9002223
name: Diffuse Palmoplantar Keratoderma
def: "An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinically similar but histologically distinguishable. Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma (KERATODERMA, PALMOPLANTAR), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present." [MESH:D015776]
synonym: "Diffuse keratosis palmoplantaris" EXACT []
synonym: "Diffuse palmoplantar hyperkeratosis" EXACT []
synonym: "Diffuse PPK" EXACT []
synonym: "Keratosis Palmaris et Plantaris Familiaris" EXACT []
synonym: "Thost Unna Syndrome" EXACT []
synonym: "Tylosis" EXACT []
xref: MESH:D015776
xref: MONDO:0017666
xref: ORDO:307141
is_a: DOID:3390 ! palmoplantar keratosis

[Term]
id: DOID:9002224
name: Rotator Cuff Injuries
def: "Injuries to the ROTATOR CUFF of the shoulder joint." [MESH:D000070636]
synonym: "Glenoid Labral Tear" EXACT []
synonym: "Glenoid Labral Tears" EXACT []
synonym: "Rotator Cuff Injury" EXACT []
synonym: "Rotator Cuff Tear" EXACT []
synonym: "Rotator Cuff Tears" EXACT []
synonym: "Rotator Cuff Tendinitides" EXACT []
synonym: "Rotator Cuff Tendinitis" EXACT []
synonym: "Rotator Cuff Tendinoses" EXACT []
synonym: "Rotator Cuff Tendinosis" EXACT []
xref: EFO:1001250
xref: MESH:D000070636
is_a: DOID:9004155 ! Shoulder Injuries
is_a: DOID:9005630 ! Rupture
is_a: DOID:9008331 ! Tendon Injuries

[Term]
id: DOID:9002225
name: Congenital Dyserythropoietic Anemia Type IIIb
synonym: "CDAN3B" EXACT []
synonym: "CDA type IIIb" EXACT []
synonym: "congenital dyserythropoietic anemia type IIIb, autosomal recessive" EXACT []
xref: MIM:619789
is_a: DOID:1338 ! congenital dyserythropoietic anemia
created_by: mtutaj
creation_date: 2022-03-24T10:57:01Z

[Term]
id: DOID:9002226
name: Localized Epidermolysis Bullosa Simplex 2C
def: "This is an autosomal dominant skin disorder with intraepidermal blistering after minor trauma mainly restricted to hands and feet beginning in infancy." []
synonym: "EBS2C" EXACT []
synonym: "epidermolysis bullosa simplex 2C, localized, modifier of" RELATED []
synonym: "epidermolysis bullosa simplex 2C, Weber-Cockayne type" EXACT []
xref: MIM:619594
xref: MONDO:0030527
is_a: DOID:0080510 ! epidermolysis bullosa simplex localized type
created_by: mtutaj
creation_date: 2021-11-03T12:21:37Z

[Term]
id: DOID:9002227
name: B-Cell Chronic Lymphocytic Leukemia
alt_id: MIM:109543
alt_id: MIM:151400
alt_id: MIM:609630
alt_id: MIM:612557
alt_id: MIM:612558
alt_id: MIM:612559
def: "A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." [MESH:D015451]
synonym: "BCLL" EXACT []
synonym: "chronic B-cell leukemia" EXACT []
synonym: "chronic B-cell leukemias" EXACT []
synonym: "Chronic B-Lymphocytic Leukemia" EXACT []
synonym: "chronic B-lymphocytic leukemias" EXACT []
synonym: "Chronic Lymphoblastic Leukemia" EXACT []
synonym: "Chronic Lymphoblastic Leukemias" EXACT []
synonym: "chronic lymphocytic leukemia, susceptibility to, 1" RELATED []
synonym: "chronic lymphocytic leukemia, susceptibility to, 2" RELATED []
synonym: "chronic lymphocytic leukemia, susceptibility to, 3" RELATED []
synonym: "chronic lymphocytic leukemia, susceptibility to, 4" RELATED []
synonym: "chronic lymphocytic leukemia, susceptibility to, 5" RELATED []
synonym: "CLL Lymphoplasmacytoid Lymphoma" EXACT []
synonym: "CLL Lymphoplasmacytoid Lymphomas" EXACT []
synonym: "CLLS1" RELATED []
synonym: "CLLS2" RELATED []
synonym: "CLLS3" RELATED []
synonym: "CLLS4" RELATED []
synonym: "CLLS5" RELATED []
synonym: "DBM" EXACT []
synonym: "Diffuse Well Differentiated Lymphocytic Lymphoma" EXACT []
synonym: "Disrupted In B-Cell Malignancy" EXACT []
synonym: "low-grade B-cell malignancy" EXACT []
synonym: "Lymphocytic Lymphoma" EXACT []
synonym: "Lymphocytic Lymphomas" EXACT []
synonym: "Lymphoma, Small Lymphocytic, Plasmacytoid" EXACT []
synonym: "Small Cell Lymphoma" EXACT []
synonym: "Small-Cell Lymphomas" EXACT []
synonym: "small lymphocytic lymphoma" EXACT []
synonym: "small lymphocytic lymphomas" EXACT []
synonym: "well-differentiated lymphocytic lymphoma" EXACT []
synonym: "well-differentiated lymphocytic lymphomas" EXACT []
xref: MESH:D015451
xref: NCI:C7540
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma
is_a: DOID:1040 ! chronic lymphocytic leukemia

[Term]
id: DOID:9002228
name: cystic renal cell carcinoma
def: "This type of tumor includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination." [EFO:0006388]
synonym: "cystic renal cell carcinoma of kidney" EXACT []
xref: EFO:0006388
is_a: DOID:4450 ! renal cell carcinoma
created_by: slaulede
creation_date: 2022-09-19T11:41:21Z

[Term]
id: DOID:9002229
name: Oculodental Syndrome Rutherfurd Syndrome
alt_id: MIM:180900
synonym: "corneal dystrophy with gum hypertrophy" EXACT []
synonym: "gingival hypertrophy corneal dystrophy" EXACT []
synonym: "gingival hypertrophy with corneal dystrophy" EXACT []
synonym: "Rutherfurd syndrome" EXACT []
xref: MESH:C537732
is_a: DOID:225 ! syndrome
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:5338 ! gingival hypertrophy

[Term]
id: DOID:9002230
name: GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY
def: "An autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. GRIDHH is caused by compound heterozygous mutation in the IARS gene on chromosome 9q21. (OMIM)" []
synonym: "GRIDHH" EXACT []
synonym: "IARS1-RELATED CONDITION" EXACT []
xref: EFO:0009155
xref: MIM:617093
xref: RDO:9001591
is_a: DOID:1059 ! intellectual disability
is_a: DOID:409 ! liver disease
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9002231
name: Fetal Growth Retardation
def: "The failure of a FETUS to attain its expected FETAL GROWTH at any GESTATIONAL AGE." [MESH:D005317]
synonym: "intrauterine growth restriction" EXACT []
synonym: "Intrauterine Growth Retardation" EXACT []
synonym: "IUGR" EXACT []
xref: EFO:0000495
xref: MESH:D005317
is_a: DOID:9001984 ! Fetal Diseases
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9002232
name: Attenuated Adenomatous Polyposis Coli
alt_id: RDO:0015032
synonym: "Brain Tumor-Polyposis Syndrome 2" EXACT []
xref: MESH:C566778
is_a: DOID:9009045 ! Gardner Syndrome

[Term]
id: DOID:9002233
name: Al Gazali Aziz Salem Syndrome
synonym: "short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease" EXACT []
synonym: "short stature, webbed neck, heart disease" EXACT []
synonym: "short stature-webbed neck-heart disease syndrome" EXACT []
xref: GARD:583
xref: MESH:C535613
xref: ORDO:2865
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002234
name: Pituitary Neoplasms
def: "Neoplasms which arise from or metastasize to the PITUITARY GLAND. The majority of pituitary neoplasms are adenomas, which are divided into non-secreting and secreting forms. Hormone producing forms are further classified by the type of hormone they secrete. Pituitary adenomas may also be characterized by their staining properties (see ADENOMA, BASOPHIL; ADENOMA, ACIDOPHIL; and ADENOMA, CHROMOPHOBE). Pituitary tumors may compress adjacent structures, including the HYPOTHALAMUS, several CRANIAL NERVES, and the OPTIC CHIASM. Chiasmal compression may result in bitemporal HEMIANOPSIA." [MESH:D010911]
synonym: "neoplasm of pituitary gland" EXACT []
synonym: "pituitary gland neoplasm" EXACT []
synonym: "pituitary neoplasm" EXACT []
synonym: "Pituitary Tumor" EXACT []
synonym: "pituitary tumors" EXACT []
xref: MESH:D010911
xref: NCI:C132194
is_a: DOID:3644 ! hypothalamic neoplasm
is_a: DOID:53 ! pituitary gland disease
is_a: DOID:9007803 ! Endocrine Gland Neoplasms

[Term]
id: DOID:9002235
name: Rhabdomyolysis, Cerivastatin-Induced
alt_id: MIM:618018
synonym: "altered drug metabolism, CYP2C8-related" RELATED []
xref: MESH:C563387
is_a: DOID:9000884 ! Rhabdomyolysis

[Term]
id: DOID:9002236
name: Infection with Mycobacterium Marinum
synonym: "Fish tank granuloma" EXACT []
synonym: "Mycobacterium marinum Infection" EXACT []
xref: MESH:C535526
xref: RDO:0000688
is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections

[Term]
id: DOID:9002237
name: Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type
alt_id: MIM:156230
xref: MESH:C563589
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9002238
name: Spondylometaphyseal Dysplasia, X-Linked
alt_id: MIM:313420
synonym: "SMDXL" EXACT []
synonym: "Spondylometaphyseal Dysplasia, Richmond Type" EXACT []
xref: MESH:C563124
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0112295 ! spondylometaphyseal dysplasia

[Term]
id: DOID:9002239
name: Estrogen Resistance
synonym: "ESTROGEN INSENSITIVITY" EXACT []
synonym: "Estrogen resistance syndrome" EXACT []
synonym: "ESTRR" EXACT []
xref: EFO:0009042
xref: MIM:615363
xref: RDO:9000919
is_a: DOID:28 ! endocrine system disease

[Term]
id: DOID:9002241
name: Omphalocele Exstrophy Imperforate Anus
synonym: "OEIS complex" EXACT []
synonym: "Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects" EXACT []
synonym: "Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects" EXACT []
xref: MESH:C537748
xref: RDO:0003641
is_a: DOID:0060249 ! scoliosis
is_a: DOID:0060321 ! umbilical hernia
is_a: DOID:10488 ! imperforate anus
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:9002242
name: Distal Arthrogryposis Type 11
def: "An autosomal dominant disorder characterized mainly by camptodactyly. Caused by heterozygous mutation in the MET gene on chromosome 7q31." [MIM:620019]
synonym: "DA11" EXACT []
xref: MIM:620019
is_a: DOID:0050646 ! distal arthrogryposis
created_by: mtutaj
creation_date: 2022-08-26T13:27:14Z

[Term]
id: DOID:9002243
name: Leg, Absence Deformity of, with Congenital Cataract
alt_id: MIM:246000
xref: MESH:C565442
xref: RDO:0014078
is_a: DOID:83 ! cataract

[Term]
id: DOID:9002244
name: Feingold Trainer Syndrome
synonym: "Unusual facies, cleft palate, short stature, and mental retardation" EXACT []
xref: MESH:C536179
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002245
name: Intestinal Neoplasms
def: "Tumors or cancer of the INTESTINES." [MESH:D007414]
synonym: "Cancer of Intestines" EXACT []
synonym: "Cancer of the Intestines" EXACT []
synonym: "Intestinal Neoplasm" EXACT []
synonym: "Intestines Neoplasm" EXACT []
synonym: "Intestines Neoplasms" EXACT []
xref: MESH:D007414
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9006796 ! Gastrointestinal Neoplasms

[Term]
id: DOID:9002246
name: Chromosome 17, Deletion 17q23 q24
synonym: "Deletion 17q23 q24" EXACT []
synonym: "Monosomy 17q23 q24" EXACT []
xref: MESH:C538047
xref: RDO:0003981
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9002247
name: Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly
alt_id: MIM:611733
synonym: "Dauwerse Peters Syndrome" EXACT []
xref: MESH:C567093
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:11193 ! syndactyly
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9002248
name: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
synonym: "RDEOA" EXACT []
synonym: "RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES" NARROW []
xref: MIM:617175
xref: NCI:C164155
xref: RDO:9001303
is_a: DOID:8501 ! fundus dystrophy

[Term]
id: DOID:9002249
name: Coronary-Subclavian Steal Syndrome
def: "A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution." [MESH:D058686]
synonym: "Syndromes, Coronary-Subclavian Steal" EXACT []
xref: EFO:1001297
xref: MESH:D058686
xref: RDO:0007847
is_a: DOID:225 ! syndrome
is_a: DOID:9000528 ! Coronary Disease
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9002250
name: Chromosome 11p, Partial Deletion
synonym: "Deletion 11p 11p12" EXACT []
synonym: "Deletion 11p13" EXACT []
synonym: "Monosomy 11 p11 p12" EXACT []
synonym: "Partial deletion 11p" EXACT []
xref: MESH:C538295
xref: RDO:0004257
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9002251
name: Prenatal Cortical Hyperostosis, Lethal
xref: MESH:C566184
xref: RDO:0014619
is_a: DOID:4257 ! Caffey disease

[Term]
id: DOID:9002252
name: Scapulohumeroperoneal Myopathy
def: "An autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. (OMIM)" []
synonym: "SHPM" EXACT []
xref: MIM:616852
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9002253
name: Rambaud Galian Syndrome
xref: MESH:C535283
is_a: DOID:182 ! calcinosis
is_a: DOID:225 ! syndrome
is_a: DOID:326 ! ischemia
is_a: DOID:5679 ! retinal disease
is_a: DOID:9000613 ! Hyaline Membrane Disease
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9002254
name: Dilatation, Pathologic
def: "The condition of an anatomical structure's being dilated beyond normal dimensions." [MESH:D004108]
synonym: "Ectasia" EXACT []
synonym: "Pathological Dilatation" EXACT []
synonym: "Pathological Dilatations" EXACT []
synonym: "Pathologic Dilatations" EXACT []
xref: MESH:D004108
xref: RDO:0005369
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9002255
name: Acanthosis Nigricans Muscle Cramps Acral Enlargement
alt_id: MIM:200170
alt_id: RDO:0001402
synonym: "Acanthosis Nigricans With Muscle Cramps And Acral Enlargement" EXACT []
xref: MESH:C536000
is_a: DOID:3138 ! acanthosis nigricans
is_a: DOID:9000373 ! Muscle Cramp
is_a: DOID:9004507 ! Hirsutism

[Term]
id: DOID:9002256
name: Furunculous Myiasis
synonym: "Furuncular myiasis" EXACT []
xref: MESH:C538194
is_a: DOID:11080 ! myiasis

[Term]
id: DOID:9002257
name: Shprintzen Omphalocele Syndrome
alt_id: MIM:182210
synonym: "Laryngeal and pharyngeal hypoplasia with omphalocele" EXACT []
synonym: "OMPHALOCELE WITH HYPOPLASIA OF PHARYNX AND LARYNX, LEARNING DISABILITY, DYSMORPHIC FACIES, AND SCOLIOSIS" EXACT []
synonym: "Pharynx and larynx hypoplasia with omphalocele" EXACT []
synonym: "Shprintzen-Goldberg omphalocele syndrome" EXACT []
xref: MESH:C537329
is_a: DOID:0060249 ! scoliosis
is_a: DOID:0060321 ! umbilical hernia
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002258
name: Glucose-6-Phosphate Translocase Deficiency
xref: MESH:C536831
is_a: DOID:0081329 ! glycogen storage disease I

[Term]
id: DOID:9002259
name: mitral annular calcification
def: "This is degenerative calcification of the mitral valve ring, often used as a marker of severe coronary artery disease." [EFO:0005262]
synonym: "MAC" EXACT []
xref: EFO:0005262
is_a: DOID:61 ! mitral valve disease
created_by: slaulede
creation_date: 2023-02-24T15:51:10Z

[Term]
id: DOID:9002260
name: testicular dysgenesis syndrome
def: "This is a syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." [EFO:0004893]
synonym: "TDS" EXACT []
xref: EFO:0004893
is_a: DOID:14447 ! gonadal dysgenesis
created_by: slaulede
creation_date: 2023-02-16T10:10:43Z

[Term]
id: DOID:9002261
name: Permanent Neonatal Diabetes Mellitus 1
synonym: "PNDM1" EXACT []
xref: MIM:606176
is_a: DOID:0060639 ! permanent neonatal diabetes mellitus
created_by: mtutaj
creation_date: 2020-05-01T10:38:22Z

[Term]
id: DOID:9002262
name: Orbital Neoplasms
def: "Neoplasms of the bony orbit and contents except the eyeball." [MESH:D009918]
synonym: "Orbital Neoplasm" EXACT []
xref: MESH:D009918
is_a: DOID:9001331 ! Skull Neoplasms
is_a: DOID:9004059 ! Eye Neoplasms
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:9002263
name: Cornea Plana 2
alt_id: MIM:217300
synonym: "CNA2" EXACT []
synonym: "CORNEA PLANA 2, AUTOSOMAL RECESSIVE" EXACT []
xref: MESH:C565677
is_a: DOID:0060287 ! cornea plana
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9002264
name: Acute Zonal Occult Outer Retinopathy
xref: MESH:C538223
xref: RDO:0004172
is_a: DOID:9335 ! scotoma

[Term]
id: DOID:9002265
name: Kidney Neoplasms
alt_id: RDO:0002884
def: "Tumors or cancers of the KIDNEY." [MESH:D007680]
synonym: "Kidney Neoplasm" EXACT []
synonym: "Mixed Epithelial Stromal Tumor of the Kidney" NARROW []
synonym: "renal neoplasm" EXACT []
synonym: "renal neoplasms" EXACT []
xref: EFO:0003865
xref: EFO:1000381
xref: MESH:D007680
is_a: DOID:557 ! kidney disease
is_a: DOID:9004643 ! Urologic Neoplasms

[Term]
id: DOID:9002266
name: Minicore Myopathy, Antenatal Onset, with Arthrogryposis
synonym: "Multicore myopathy, antenatal onset, with arthrogryposis" EXACT []
synonym: "Multiminicore myopathy, antenatal onset, with arthrogryposis" EXACT []
xref: MESH:C537474
xref: RDO:0003320
is_a: DOID:0080954 ! arthrogryposis multiplex congenita

[Term]
id: DOID:9002267
name: Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies
synonym: "NEDBAF" EXACT []
xref: EFO:0010563
xref: MIM:618577
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2019-10-10T17:50:00Z

[Term]
id: DOID:9002268
name: Hand and Foot Deformity with Flat Facies
alt_id: MIM:139750
xref: MESH:C535626
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9002269
name: Mthfr Deficiency, Thermolabile Type
xref: MESH:C565512
xref: RDO:0014126
is_a: DOID:9263 ! homocystinuria

[Term]
id: DOID:9002270
name: Kocher-Debre-Semelaigne Syndrome
synonym: "Kocher Debre Semelaigne disease" EXACT []
xref: MESH:C537211
xref: RDO:0003001
is_a: DOID:0050328 ! congenital hypothyroidism
is_a: DOID:0080000 ! muscular disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000040 ! Hypertrophy

[Term]
id: DOID:9002271
name: Dourine
def: "A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia." [MESH:D004313]
synonym: "Dourines" EXACT []
xref: EFO:0007240
xref: MESH:D004313
is_a: DOID:10113 ! trypanosomiasis
is_a: DOID:9004157 ! Protozoan Infections, Animal

[Term]
id: DOID:9002272
name: Small Fiber Neuropathy
def: "Disorder of the peripheral nerves that primarily impair small nerve fibers. The affected small nerve fibers include myelinated A-delta fibers (see A FIBERS) and unmyelinated C FIBERS. Because these small fibers innervate skin and help control autonomic function, their neuropathy presents with neuropathic pain, reduced thermal and pain sensitivity, and autonomic dysfunction (e.g. abnormal sweating or facial flushing). Small fiber neuropathy can be idiopathic or associated with underlying diseases (e.g., AMYLOIDOSIS; DIABETES MELLITUS; SARCOIDOSIS; or VASCULITIS)." [MESH:D000071075]
synonym: "small fiber neuropathies" EXACT []
synonym: "Small Fibre Neuropathies" EXACT []
synonym: "Small Fibre Neuropathy" EXACT []
synonym: "small nerve fiber neuropathy" EXACT []
xref: MESH:D000071075
xref: NCI:C125389
is_a: DOID:574 ! peripheral nervous system disease

[Term]
id: DOID:9002273
name: Open Bite
def: "A condition in which certain opposing teeth fail to establish occlusal contact when the jaws are closed." [MESH:D024343]
synonym: "Apertognathia" EXACT []
synonym: "Nonocclusion" EXACT []
synonym: "Openbite" EXACT []
xref: MESH:D024343
is_a: DOID:9000121 ! Malocclusion

[Term]
id: DOID:9002274
name: Renal Colic
def: "A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA." [MESH:D056844]
synonym: "Acute Renal Colic" EXACT []
synonym: "Acute Renal Colics" EXACT []
synonym: "Renal Colics" EXACT []
synonym: "Ureteral Colic" EXACT []
synonym: "Ureteral Colics" EXACT []
xref: EFO:1001412
xref: MESH:D056844
is_a: DOID:9000071 ! Signs and Symptoms
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9002276
name: Uridine-Cytidineuria
synonym: "URCTU" EXACT []
xref: MIM:618477
xref: MONDO:0032773
is_a: DOID:655 ! inherited metabolic disorder
created_by: mtutaj
creation_date: 2019-06-25T13:59:52Z

[Term]
id: DOID:9002277
name: Dandy-Walker Malformation with Postaxial Polydactyly
alt_id: MIM:220220
synonym: "Dandy Walker Malformation Postaxial Polydactyly" EXACT []
synonym: "DWM with Postaxial Polydactyly" EXACT []
synonym: "Pierquin syndrome" EXACT []
xref: MESH:C535771
is_a: DOID:2785 ! Dandy-Walker syndrome
is_a: DOID:9003071 ! Postaxial Polydactyly

[Term]
id: DOID:9002278
name: Metabolic Bone Diseases
alt_id: RDO:0001042
def: "Diseases that affect the METABOLIC PROCESSES of BONE TISSUE." [MESH:D001851]
synonym: "Metabolic Bone Disease" EXACT []
synonym: "osteopenia" EXACT []
synonym: "osteopenias" EXACT []
xref: MESH:D001851
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:9002279
name: Permanent Neonatal Diabetes Mellitus 3
synonym: "DEND2" NARROW []
synonym: "DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 2" NARROW []
synonym: "diabetes mellitus, permanent neonatal 3, with or without neurologic features" EXACT []
synonym: "PNDM3" EXACT []
xref: MIM:618857
is_a: DOID:0060639 ! permanent neonatal diabetes mellitus
created_by: mtutaj
creation_date: 2020-05-01T09:56:33Z

[Term]
id: DOID:9002280
name: Retinal Arterial Macroaneurysm
def: "An acquired dilation of the retinal artery often associated with systemic HYPERTENSION." [MESH:D000080346]
synonym: "Retinal Arteriolar Macroaneurysm" NARROW []
synonym: "Retinal Macroaneurysm" EXACT []
synonym: "Ruptured Retinal Arterial Macroaneurysm" RELATED []
xref: MESH:D000080346
is_a: DOID:2462 ! retinal vascular disease
is_a: DOID:9001665 ! Aneurysm
created_by: slaulede
creation_date: 2020-02-07T12:37:50Z

[Term]
id: DOID:9002282
name: Monocyte Esterase Deficiency
alt_id: MIM:618057
synonym: "altered drug metabolism, CES1-related" EXACT []
synonym: "carboxylesterase 1 deficiency" EXACT []
synonym: "monocyte carboxylesterase deficiency" EXACT []
xref: MESH:C566173
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9002283
name: Experimental Allergic Asthma
def: "Allergic asthma that is induced in experimental animals." []
is_a: DOID:9006205 ! Animal Disease Models
is_a: DOID:9415 ! allergic asthma
created_by: rgd
creation_date: 2016-08-22T00:00:00Z

[Term]
id: DOID:9002284
name: Chromosome 16, Uniparental Disomy
synonym: "Uniparental disomy of 16" EXACT []
xref: MESH:C538043
xref: RDO:0003977
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:9002285
name: Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus
alt_id: RDO:0002479
synonym: "Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus" EXACT []
xref: MESH:C536790
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:2785 ! Dandy-Walker syndrome

[Term]
id: DOID:9002287
name: Respiratory Tract Granuloma
alt_id: RDO:0005699
def: "Granulomatous disorders affecting one or more sites in the respiratory tract." [MESH:D015769]
synonym: "Respiratory Tract Granulomas" EXACT []
xref: MESH:D015769
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:9002019 ! Granuloma

[Term]
id: DOID:9002288
name: Hoxha-Aliu syndrome
def: "This disease is characterized by mildly impaired intellectual development and digital anomalies of the hands and feet." [MIM:620662]
synonym: "ERI1-ASSOCIATED DISORDER" BROAD []
synonym: "HXAL" EXACT []
xref: MIM:620662
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulederkind
creation_date: 2024-02-29T10:50:54Z

[Term]
id: DOID:9002289
name: Retinitis Pigmentosa 96
def: "A disease characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade. Caused by heterozygous mutation in the SAG gene on chromosome 2q37." []
synonym: "RP96" EXACT []
xref: MIM:620228
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2023-02-02T09:29:13Z

[Term]
id: DOID:9002290
name: Cadaver
def: "A dead body, usually a human body." [MESH:D002102]
synonym: "Cadavers" EXACT []
synonym: "Corpse" EXACT []
synonym: "Corpses" EXACT []
xref: MESH:D002102
is_a: DOID:9000543 ! Death

[Term]
id: DOID:9002291
name: Hereditary Angioedema 6
def: "An autosomal dominant disorder characterized by onset of episodic subcutaneous and submucosal swelling in adulthood. Caused by heterozygous mutation in the KNG1 gene on chromosome 3q27. (OMIM)" []
synonym: "HAE6" EXACT []
xref: MIM:619363
is_a: DOID:14735 ! hereditary angioedema
created_by: mtutaj
creation_date: 2021-06-11T11:59:20Z

[Term]
id: DOID:9002294
name: Bilateral Amastia with Ureteral Triplication and Dysmorphism
alt_id: MIM:104350
xref: MESH:C566295
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002295
name: Poor Drug Metabolism, CYP2D6-Related
alt_id: MIM:608902
synonym: "CODEINE, ULTRARAPID METABOLISM OF" NARROW []
synonym: "DEBRISOQUINE, POOR METABOLISM OF" NARROW []
synonym: "DEBRISOQUINE, ULTRARAPID METABOLISM OF" NARROW []
synonym: "DRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED" NARROW []
synonym: "NORTRIPTYLINE, POOR METABOLISM OF" NARROW []
synonym: "poor metabolism of sparteine" NARROW []
xref: EFO:0009161
xref: MESH:C563835
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9002296
name: Acquired Hypoprothrombinemia
xref: MESH:C538174
is_a: DOID:2235 ! prothrombin deficiency

[Term]
id: DOID:9002297
name: OCULOMOTOR-ABDUCENS SYNKINESIS
def: "This disease is an autosomal recessive disorder characterized by a specific anomaly of extraocular muscle movements involving the oculomotor nerve (cranial nerve III) and the abducens nerve (cranial nerve VI). Affected individuals show ptosis as well as elevation of the eyelid on ipsilateral abduction. The features indicate abnormal innervation of extraocular muscles and suggest synkinesis of the oculomotor and abducens nerves." [MIM:619215]
synonym: "OCABSN" EXACT []
xref: MIM:619215
is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles
is_a: DOID:5656 ! cranial nerve disease
created_by: slaulede
creation_date: 2021-04-13T14:14:56Z

[Term]
id: DOID:9002298
name: Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy
alt_id: MIM:605115
synonym: "HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY" EXACT []
xref: MESH:C565359
xref: RDO:0014015
is_a: DOID:10763 ! hypertension

[Term]
id: DOID:9002299
name: Autosomal Dominant Nonsyndromic Deafness 86
def: "A late-onset progressive hearing loss through p53 (TP53)-mediated hair cell apoptosis. Caused by heterozygous mutation in the THOC1 gene on chromosome 18p11." [MIM:620280]
synonym: "Deafness, autosomal dominant 86" EXACT []
synonym: "DFNA86" EXACT []
xref: MIM:620280
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2023-03-14T10:16:58Z

[Term]
id: DOID:9002300
name: Hypoglobulinemia and Absent B Cells
xref: MESH:C565765
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:620 ! blood protein disease

[Term]
id: DOID:9002301
name: Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities
def: "A disease characterized by severe global developmental delay apparent in infancy or early childhood. Affected individuals have hypotonia with impaired motor development, respiratory insufficiency, and feeding difficulties requiring intervention. Caused by heterozygous mutation in the CLCN6 gene on chromosome 1p36." [MIM:619173]
synonym: "Ceroid lipofuscinosis, neuronal, 15" EXACT []
synonym: "CLCN6-RELATED CONDITION" EXACT []
synonym: "CLN15" EXACT []
synonym: "CONRIBA" EXACT []
xref: MIM:619173
xref: MONDO:0030947
is_a: DOID:11162 ! respiratory failure
is_a: DOID:14503 ! neuronal ceroid lipofuscinosis
is_a: DOID:8670 ! eating disorder
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: mtutaj
creation_date: 2022-11-14T15:22:21Z

[Term]
id: DOID:9002302
name: Generalized Severe Epidermolysis Bullosa Simplex 1A
synonym: "EBS1A" EXACT []
synonym: "epidermolysis bullosa simplex 1A, Dowling-Meara type" EXACT []
xref: MIM:131760
is_a: DOID:0060735 ! epidermolysis bullosa simplex Dowling-Meara type
created_by: mtutaj
creation_date: 2021-11-03T11:55:03Z

[Term]
id: DOID:9002303
name: Polyglucosan Body Myopathy 2
def: "This disease is is an autosomal recessive disorder characterized by proximal muscle weakness of the lower limbs resulting in gait disturbances. The disorder is slowly progressive. Muscle biopsy shows accumulation of polyglucosan, which contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase." [MIM:616199]
synonym: "PGBM2" EXACT []
synonym: "POLYGLUCOSAN BODY MYOPATHY TYPE 2" EXACT []
xref: MIM:616199
is_a: DOID:2747 ! glycogen storage disease
is_a: DOID:9005532 ! Muscle Weakness
created_by: rgd
creation_date: 2017-02-06T00:00:00Z

[Term]
id: DOID:9002304
name: Prostatic Neoplasms
def: "Tumors or cancer of the PROSTATE." [MESH:D011471]
synonym: "prostate neoplasm" EXACT []
synonym: "prostate neoplasms" EXACT []
synonym: "prostatic neoplasm" EXACT []
xref: MESH:D011471
is_a: DOID:47 ! prostate disease
is_a: DOID:9003125 ! Male Genital Neoplasms

[Term]
id: DOID:9002305
name: War-Related Injuries
def: "WOUNDS and INJURIES and PSYCHOLOGICAL TRAUMA sustained during WAR." [MESH:D000067398]
synonym: "War-Related Injury" EXACT []
synonym: "War Related Trauma" EXACT []
xref: MESH:D000067398
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9002306
name: Aggressive Periodontitis, 2
alt_id: MIM:608526
xref: MESH:C566946
is_a: DOID:824 ! periodontitis

[Term]
id: DOID:9002307
name: Mandibulofacial Dysostosis Syndrome, Bauru Type
alt_id: MIM:604830
xref: MESH:C565744
is_a: DOID:1934 ! dysostosis
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9002309
name: Nonodontogenic Cysts
def: "Cysts formed from epithelial inclusions in the lines of fusion of the embryonic processes which form the jaws. They include nasopalatine or incisive canal cyst, incisive papilla cyst, globulomaxillary cyst, median palatal cyst, median alveolar cyst, median mandibular cyst, and nasoalveolar cyst." [MESH:D009631]
synonym: "Nonodontogenic Cyst" EXACT []
xref: MESH:D009631
xref: RDO:0006223
is_a: DOID:9004816 ! Jaw Cysts

[Term]
id: DOID:9002310
name: Split-Hand/Foot Malformation with Long Bone Deficiency 3
alt_id: MIM:612576
alt_id: RDO:0015373
synonym: "CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME" EXACT []
synonym: "SHFLD3" EXACT []
xref: MESH:C567245
is_a: DOID:0090020 ! split hand-foot malformation
is_a: DOID:9000545 ! Ectromelia

[Term]
id: DOID:9002311
name: Experimental Autoimmune Myocarditis
def: "Experimental autoimmune myocarditis is a model of inflammatory heart disease and subsequent dilated cardiomyopathy (DCM). Inoculation with purified cardiac myosin combined with FREUND'S ADJUVANT triggers the disease in rats and mice." [PMID:11274001, PMID:15546794]
synonym: "EAM" EXACT []
is_a: DOID:0080767 ! autoimmune myocarditis
is_a: DOID:9006205 ! Animal Disease Models

[Term]
id: DOID:9002312
name: Atrial Remodeling
def: "Long-term changes in the electrophysiological parameters and/or anatomical structures of the HEART ATRIA that result from prolonged changes in atrial rate, often associated with ATRIAL FIBRILLATION or long periods of intense EXERCISE." [MESH:D064752]
synonym: "Atrial Cardiac Remodeling" EXACT []
synonym: "Atrial Myocardial Remodeling" EXACT []
synonym: "Atrium Remodeling" EXACT []
synonym: "Electrical Remodeling" EXACT []
xref: MESH:D064752
is_a: DOID:9004611 ! Pathologic Processes
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9002313
name: Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6
def: "A disease characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle. Caused by homozygous mutation in the RRM1 gene on chromosome 11p15." [MIM:620647]
synonym: "PEOB6" EXACT []
synonym: "RRM1-RELATED DISORDER" EXACT []
xref: MIM:620647
is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive
created_by: tutajm
creation_date: 2023-12-18T11:05:44Z

[Term]
id: DOID:9002314
name: Acute Traumatic Coagulopathy
def: "A disorder characterized by procoagulant substances entering the general circulation causing a systemic thrombotic process. The activation of the clotting mechanism arises from physical trauma." []
synonym: "ACOTS" EXACT []
synonym: "acute coagulopathy of trauma-shock" EXACT []
synonym: "ATC" EXACT []
synonym: "Coagulopathy of trauma" EXACT []
synonym: "COT" EXACT []
synonym: "trauma-induced coagulopathy" EXACT []
xref: RDO:9001269
is_a: DOID:11247 ! disseminated intravascular coagulation
created_by: rgd
creation_date: 2016-10-14T00:00:00Z

[Term]
id: DOID:9002315
name: Kidney Calculi
def: "Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE." [MESH:D007669]
synonym: "kidney calculus" EXACT []
synonym: "Kidney Stone" EXACT []
synonym: "Kidney Stones" EXACT []
synonym: "Nephrolith" EXACT []
synonym: "Renal Calculi" EXACT []
synonym: "renal calculus" EXACT []
xref: MESH:D007669
is_a: DOID:0080652 ! calcium oxalate nephrolithiasis
is_a: DOID:9003311 ! Urinary Calculi

[Term]
id: DOID:9002316
name: Myoclonus, Cerebellar Ataxia, and Deafness
alt_id: MIM:159800
xref: MESH:C563549
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:9007722 ! Myoclonus
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9002317
name: Anthophobia
synonym: "Botanophobia" EXACT []
synonym: "Fear of flowers" EXACT []
synonym: "Fear of plants" EXACT []
xref: MESH:C000719190
is_a: DOID:599 ! specific phobia
created_by: mtutaj
creation_date: 2022-12-12T12:44:44Z

[Term]
id: DOID:9002319
name: Glanzmann Thrombasthenia 1
def: "An autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Caused by homozygous or compound heterozygous mutation in the gene encoding platelet glycoprotein alpha-IIb (ITGA2B) on chromosome 17q21.31." [MIM:273800]
synonym: "BDPLT2" EXACT []
xref: MIM:273800
is_a: DOID:2219 ! Glanzmann's thrombasthenia
created_by: mtutaj
creation_date: 2022-04-25T13:34:23Z

[Term]
id: DOID:9002320
name: Neurobehavioral Manifestations
def: "Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information." [MESH:D019954]
synonym: "Cognitive Manifestation" EXACT []
synonym: "Cognitive Manifestations" EXACT []
synonym: "Cognitive Symptom" EXACT []
synonym: "Cognitive Symptoms" EXACT []
synonym: "Neurobehavioral Manifestation" EXACT []
synonym: "Neurobehavioral Signs and Symptoms" EXACT []
xref: EFO:0004364
xref: MESH:D019954
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9002321
name: Teratozoospermia
def: "Presence of spermatozoa with abnormal morphology over 85 % in sperm." []
synonym: "abnormal spermatozoa" EXACT []
synonym: "abnormal spermatozoas" EXACT []
synonym: "teratospermia" EXACT []
synonym: "teratospermias" EXACT []
synonym: "teratozoospermias" EXACT []
xref: EFO:0002625
xref: MESH:D000072660
is_a: DOID:12336 ! male infertility

[Term]
id: DOID:9002322
name: Shy-Drager Syndrome
def: "A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)" [MESH:D012791]
synonym: "dysautonomia-orthostatic hypotension syndrome" EXACT []
synonym: "dysautonomia-orthostatic hypotension syndromes" EXACT []
synonym: "Dysautonomic Orthostatic Hypotension" EXACT []
synonym: "Idiopathic Orthostatic Hypotension, Shy Drager Type" EXACT []
synonym: "progressive autonomic failure" EXACT []
synonym: "progressive autonomic failures" EXACT []
xref: MESH:D012791
is_a: DOID:4752 ! multiple system atrophy
is_a: DOID:9006024 ! Hypotension

[Term]
id: DOID:9002323
name: Schaap Taylor Baraitser Syndrome
synonym: "Cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature" EXACT []
xref: MESH:C536626
xref: RDO:0002262
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:420 ! hypertrichosis
is_a: DOID:83 ! cataract
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9002324
name: Retroperitoneal Liposarcoma
synonym: "Giant pelvic retroperitoneal liposarcoma" EXACT []
synonym: "Pelvic retroperitoneal liposarcoma" EXACT []
xref: MESH:C538370
is_a: DOID:3382 ! liposarcoma
is_a: DOID:9004476 ! Retroperitoneal Neoplasms

[Term]
id: DOID:9002325
name: Male Hypogonadism with Mental Retardation and Skeletal Anomalies
alt_id: MIM:307500
xref: MESH:C564406
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1924 ! hypogonadism

[Term]
id: DOID:9002326
name: Night Blindness Skeletal Anomalies Unusual Facies
synonym: "Hunter Thomson Reed syndrome" EXACT []
xref: MESH:C536121
xref: RDO:0001563
is_a: DOID:11830 ! myopia
is_a: DOID:8499 ! night blindness
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9002327
name: Hyperparathyroidism 2
alt_id: MIM:145001
synonym: "Familial Cystic Parathyroid Adenomatosis" EXACT []
synonym: "Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas" EXACT []
synonym: "Hpt-Jt" EXACT []
synonym: "HPT-JT PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC" NARROW []
synonym: "HRPT2" EXACT []
synonym: "HYPERPARATHYROIDISM 2 WITH JAW TUMORS" EXACT []
synonym: "Hyperparathyroidism-Jaw Tumor Syndrome" EXACT []
synonym: "HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY" NARROW []
xref: MESH:C563273
is_a: DOID:0050871 ! fibroma
is_a: DOID:11202 ! primary hyperparathyroidism
is_a: DOID:1862 ! jaw cancer
is_a: DOID:657 ! adenoma

[Term]
id: DOID:9002328
name: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME
def: "This disease is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay." [MIM:619699]
synonym: "FERBON" EXACT []
xref: MIM:619699
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2022-03-14T17:17:02Z

[Term]
id: DOID:9002329
name: Adams-Oliver Syndrome 4
synonym: "AOS4" EXACT []
xref: MIM:615297
is_a: DOID:0060227 ! Adams-Oliver syndrome

[Term]
id: DOID:9002330
name: Familial Primary Cryofibrinogenemia
alt_id: MIM:123540
xref: MESH:C565142
is_a: DOID:2917 ! cryoglobulinemia

[Term]
id: DOID:9002331
name: Knee Osteoarthritis
def: "Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)" [MESH:D020370]
synonym: "osteoarthritis of knee" EXACT []
synonym: "osteoarthritis of knees" EXACT []
xref: EFO:0004616
xref: MESH:D020370
is_a: DOID:8398 ! osteoarthritis

[Term]
id: DOID:9002332
name: Treft Sanborn Carey Syndrome
synonym: "Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy" EXACT []
xref: MESH:C536544
xref: RDO:0002159
is_a: DOID:0060260 ! ptosis
is_a: DOID:0080000 ! muscular disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9002333
name: Metaphyseal Acroscyphodysplasia
alt_id: MIM:250215
synonym: "cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly" EXACT []
synonym: "wedge-shaped epiphyses of knees" EXACT []
xref: MESH:C537350
is_a: DOID:206 ! hereditary multiple exostoses
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9002334
name: Bassoe Syndrome
xref: MESH:C537661
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9002335
name: Lymphangiectasis
def: "A transient dilatation of the lymphatic vessels." [MESH:D008200]
synonym: "Lymphangiectases" EXACT []
xref: EFO:1001025
xref: MESH:D008200
xref: RDO:0003619
is_a: DOID:75 ! lymphatic system disease

[Term]
id: DOID:9002336
name: Renal, Genital, and Middle Ear Anomalies
xref: MESH:C564849
xref: MIM:267400
xref: MONDO:0009969
xref: ORDO:1092
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:9002337
name: Aortic Aneurysm, Familial Abdominal 4
synonym: "AAA4" EXACT []
xref: MIM:614375
is_a: DOID:7693 ! abdominal aortic aneurysm

[Term]
id: DOID:9002339
name: NADH Cytochrome B5 Reductase Deficiency
alt_id: MIM:250800
alt_id: OMIA:002131
alt_id: RDO:0003749
synonym: "CYB5R3-RELATED CONDITION" EXACT []
synonym: "diaphorase deficiency" EXACT []
synonym: "HEREDITARY METHEMOGLOBINEMIA" EXACT []
synonym: "methemoglobinaemia, CYB5R3-related" EXACT []
synonym: "Methemoglobinemia, Congenital, Autosomal Recessive" EXACT []
synonym: "METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE METHEMOGLOBINEMIA, TYPE I" NARROW []
synonym: "Methemoglobinemia due to deficiency of methemoglobin reductase" EXACT []
synonym: "methemoglobinemia, type I" EXACT []
synonym: "METHEMOGLOBINEMIA, TYPE II" NARROW []
synonym: "NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE I" NARROW []
synonym: "NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE II" NARROW []
synonym: "NADH-dependent methemoglobin reductase deficiency" EXACT []
synonym: "NADH diaphorase deficiency" EXACT []
synonym: "NADH methemoglobin reductase deficiency" EXACT []
xref: MESH:C537841
is_a: DOID:10783 ! methemoglobinemia

[Term]
id: DOID:9002340
name: Spinocerebellar Ataxia 32
synonym: "SCA32" EXACT []
xref: MIM:613909
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia

[Term]
id: DOID:9002342
name: Multiple Exostoses with Spastic Tetraparesis
alt_id: MIM:158345
xref: MESH:C563566
is_a: DOID:206 ! hereditary multiple exostoses
is_a: DOID:9002598 ! Spastic Paraparesis

[Term]
id: DOID:9002343
name: Corneal Cerebellar Syndrome
alt_id: MIM:271310
synonym: "Corneal dystrophy with spinocerebellar degeneration" EXACT []
synonym: "Der kaloustian Jarudi Khoury syndrome" EXACT []
synonym: "Spinocerebellar degeneration and corneal dystrophy" EXACT []
xref: MESH:C535472
is_a: DOID:225 ! syndrome
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:9277 ! primary cerebellar degeneration

[Term]
id: DOID:9002344
name: Gunshot Wounds
def: "Disruption of structural continuity of the body as a result of the discharge of firearms." [MESH:D014948]
synonym: "Gunshot Wound" EXACT []
xref: MESH:D014948
is_a: DOID:9000656 ! Penetrating Wounds

[Term]
id: DOID:9002346
name: Pharyngeal Neoplasms
def: "Tumors or cancer of the PHARYNX." [MESH:D010610]
synonym: "pharyngeal neoplasm" EXACT []
synonym: "pharynx neoplasm" EXACT []
synonym: "pharynx neoplasms" EXACT []
xref: MESH:D010610
is_a: DOID:9004130 ! Pharyngeal Diseases
is_a: DOID:9006815 ! Otorhinolaryngologic Neoplasms

[Term]
id: DOID:9002347
name: MASP2 Deficiency
alt_id: MIM:613791
synonym: "LCAPD2" EXACT []
synonym: "LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2" EXACT []
xref: MESH:C565360
is_a: DOID:9002118 ! Lectin Complement Activation Pathway Defects

[Term]
id: DOID:9002349
name: Charcot-Marie-Tooth Disease Type 1J
def: "An autosomal dominant sensorimotor peripheral neuropathy characterized by distal muscle weakness and atrophy, as well as distal sensory impairment, predominantly affecting the lower limbs and resulting in gait abnormalities. Caused by heterozygous mutation in the ITPR3 gene on chromosome 6p21." [MIM:620111]
synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1J" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy, demyelinating, type 1J" EXACT []
synonym: "CMT1J" EXACT []
xref: MIM:620111
is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1
created_by: mtutaj
creation_date: 2022-11-04T16:19:40Z

[Term]
id: DOID:9002350
name: Hereditary Hemorrhagic Telangiectasia, Type 1
def: "Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Hereditary hemorrhagic telangiectasia type 1 (HHT1) is caused by heterozygous mutation in the gene encoding endoglin (ENG) on chromosome 9q34. (OMIM)" []
synonym: "ENG-RELATED CONDITION" EXACT []
synonym: "Haemorrhagic Telangiectasia 1" EXACT []
synonym: "HHT1" EXACT []
xref: MIM:187300
is_a: DOID:1270 ! hereditary hemorrhagic telangiectasia
created_by: rgd
creation_date: 2016-02-12T00:00:00Z

[Term]
id: DOID:9002351
name: Lipomyelomeningocele
alt_id: MIM:609537
synonym: "Familial lipomyelomeningocele" EXACT []
xref: MESH:C537030
is_a: DOID:0060326 ! myelomeningocele

[Term]
id: DOID:9002352
name: Corneal Dystrophy, Fuchs Endothelial, 6
alt_id: MIM:613270
synonym: "corneal dystrophy, Fuchs endothelial, late-onset" EXACT []
synonym: "FECD6" EXACT []
xref: MESH:C567675
xref: MONDO:0013206
is_a: DOID:11555 ! Fuchs' endothelial dystrophy

[Term]
id: DOID:9002353
name: Erythrocyte Lactate Transporter Defect
alt_id: MIM:245340
synonym: "Lactate Transporter Defect, Myopathy due to" EXACT []
xref: MESH:C565449
xref: RDO:0014082
is_a: DOID:0080000 ! muscular disease

[Term]
id: DOID:9002354
name: Pityriasis Lichenoides
alt_id: RDO:0002849
def: "A subgroup of PARAPSORIASIS itself divided into acute and chronic forms. The acute form is characterized by the abrupt onset of a generalized, reddish-brown, maculopapular eruption. Lesions may be vesicular, hemorrhagic, crusted, or necrotic. Histologically the disease is characterized by epidermal necrolysis. The chronic form shows milder skin changes with necrosis." [MESH:D017514]
synonym: "Acute Pityriasis Lichenoides" EXACT []
synonym: "Chronic Pityriasis Lichenoides" EXACT []
synonym: "Habermann's Disease" EXACT []
synonym: "Habermann Disease" EXACT []
synonym: "Habermanns Disease" EXACT []
synonym: "Mucha Habermann Disease" EXACT []
synonym: "Pityriasis Lichenoides Chronica" EXACT []
synonym: "Pityriasis Lichenoides et Varioliformis Acuta" EXACT []
xref: MESH:D017514
is_a: DOID:8574 ! lichen disease
is_a: DOID:9007287 ! Pityriasis
is_a: DOID:9088 ! parapsoriasis

[Term]
id: DOID:9002355
name: Fetal Trimethadione Syndrome
synonym: "Trimethadione embryopathy" EXACT []
xref: MESH:C537798
xref: RDO:0003702
is_a: DOID:225 ! syndrome
is_a: DOID:9007828 ! Abnormalities, Drug-Induced

[Term]
id: DOID:9002356
name: Prostate Cancer, Hereditary, 2
synonym: "HPC2" EXACT []
xref: MIM:614731
is_a: DOID:9005539 ! Familial Prostate Cancer
created_by: rgd
creation_date: 2015-06-11T00:00:00Z

[Term]
id: DOID:9002357
name: Transient Antero-Apical Dyskinesia
xref: MESH:C538679
xref: RDO:0004599
is_a: DOID:9002399 ! Takotsubo Cardiomyopathy

[Term]
id: DOID:9002358
name: Chromosome 12, 12p Trisomy
synonym: "Duplication 12p" EXACT []
synonym: "Trisomy 12p" EXACT []
xref: MESH:C538299
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9002359
name: Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
alt_id: MIM:225755
xref: MESH:C565594
is_a: DOID:0060870 ! isolated growth hormone deficiency
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:182 ! calcinosis
is_a: DOID:8466 ! retinal degeneration
is_a: DOID:9005627 ! Metabolic Brain Diseases

[Term]
id: DOID:9002360
name: Cone Rod Dystrophy Amelogenesis Imperfecta
xref: MESH:C535976
xref: RDO:0001369
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:2187 ! amelogenesis imperfecta

[Term]
id: DOID:9002361
name: Bazex-Dupre-Christol Syndrome
alt_id: MIM:301845
synonym: "Bazex syndrome" EXACT []
synonym: "BDCS" EXACT []
synonym: "BZX" EXACT []
synonym: "Follicular atrophoderma and basal cell carcinomas" EXACT []
synonym: "Follicular atrophoderma-basal cell carcinoma syndrome" EXACT []
synonym: "Follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome" EXACT []
xref: MESH:C537663
is_a: DOID:225 ! syndrome
is_a: DOID:2513 ! basal cell carcinoma
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:9002362
name: Hyperkinesis
def: "Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders." [MESH:D006948]
synonym: "Generalized Hyperkinesia" EXACT []
synonym: "Generalized Hyperkinesias" EXACT []
synonym: "Hyperkinesia" EXACT []
synonym: "Hyperkinetic Movement" EXACT []
synonym: "Hyperkinetic Movements" EXACT []
synonym: "Motor Hyperactivity" EXACT []
xref: MESH:D006948
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9002363
name: Nonphotosensitive Trichothiodystrophy 8
def: "Characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Caused by compound heterozygous mutation in the AARS1 gene on chromosome 16q22." [MIM:619691]
synonym: "TTD8" EXACT []
xref: MIM:619691
is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy
created_by: mtutaj
creation_date: 2022-01-06T14:37:44Z

[Term]
id: DOID:9002364
name: Stoll Levy Francfort Syndrome
alt_id: MIM:171480
synonym: "Facioauriculoradial dysplasia" EXACT []
synonym: "Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia" EXACT []
xref: MESH:C537498
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9002365
name: Ovarian Granulosa Cell Tumor
def: "This is a granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." [EFO:1000421]
xref: EFO:1000421
xref: NCI:C6261
is_a: DOID:9002762 ! Ovarian Neoplasms
created_by: slaulede
creation_date: 2022-09-01T14:41:25Z

[Term]
id: DOID:9002366
name: Protozoan Encephalitis
is_a: DOID:9003824 ! Infectious Encephalitis
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:9002367
name: Diamond-Blackfan Anemia 21
def: "An autosomal recessive bone marrow failure syndrome that includes selective erythroid hypoplasia, anemia with transient thrombocytopenia, short stature, facial dysmorphism, limb abnormalities, cardiac defects, and intellectual disability. Caused by homozygous or compound heterozygous mutations in the HEATR3 gene on chromosome 16q12." [MIM:620072]
synonym: "DBA21" EXACT []
xref: MIM:620072
is_a: DOID:1339 ! Diamond-Blackfan anemia
created_by: mtutaj
creation_date: 2022-10-13T10:02:05Z

[Term]
id: DOID:9002368
name: Cutis Marmorata Telangiectatica Congenita
alt_id: MIM:219250
synonym: "CMTC" EXACT []
synonym: "Hereditary cutis marmorata telangiectatica congenita" EXACT []
xref: MESH:C536226
is_a: DOID:1272 ! telangiectasis
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:9002369
name: osteogenesis imperfecta type 2C
synonym: "Osteogenesis Imperfecta, Type 2C" EXACT []
synonym: "Osteogenesis Imperfecta, Type IIC" EXACT []
xref: RDO:9000752
is_a: DOID:0110341 ! osteogenesis imperfecta type 2

[Term]
id: DOID:9002370
name: Ectodermal Dysplasia-Syndactyly Syndrome 1
synonym: "EDSS1" EXACT []
xref: MIM:613573
is_a: DOID:9000244 ! Ectodermal Dysplasia-Syndactyly Syndrome

[Term]
id: DOID:9002371
name: Cardiotoxicity
def: "Damage to the heart or its function secondary to exposure to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION." [MESH:D066126]
synonym: "Cardiac Toxicities" EXACT []
synonym: "Cardiac Toxicity" EXACT []
synonym: "Cardiotoxicities" EXACT []
xref: EFO:1001482
xref: MESH:D066126
is_a: DOID:9000111 ! Radiation Injuries
is_a: DOID:9004611 ! Pathologic Processes
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions

[Term]
id: DOID:9002372
name: Radius Absent Anogenital Anomalies
alt_id: MIM:312190
synonym: "Radial Aplasia And Anogenital Anomalies" EXACT []
synonym: "Radial aplasia, X-linked" EXACT []
xref: MESH:C535281
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0080006 ! bone development disease
is_a: DOID:10892 ! hypospadias
is_a: DOID:10908 ! hydrocephalus

[Term]
id: DOID:9002374
name: Coronary Artery Disease, Autosomal Dominant 2
alt_id: MIM:610947
synonym: "ADCAD2" EXACT []
synonym: "LRP6-RELATED CONDITION" BROAD []
xref: MESH:C567045
is_a: DOID:3393 ! coronary artery disease
is_a: DOID:5844 ! myocardial infarction

[Term]
id: DOID:9002375
name: Childhood Myocerebrohepatopathy Spectrum
xref: MESH:C579990
xref: RDO:0015869
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9002376
name: Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant
alt_id: MIM:608257
xref: MESH:C564267
is_a: DOID:0060260 ! ptosis
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:9002377
name: Supravalvar Aortic Stenosis, Eisenberg Type
xref: MESH:C538461
is_a: DOID:1929 ! supravalvular aortic stenosis

[Term]
id: DOID:9002378
name: Urethral Neoplasms
alt_id: RDO:0006788
def: "Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males." [MESH:D014523]
synonym: "Urethral Neoplasm" EXACT []
synonym: "urethra neoplasm" EXACT []
synonym: "urethra neoplasms" EXACT []
xref: EFO:0003846
xref: MESH:D014523
is_a: DOID:732 ! urethral disease
is_a: DOID:9004643 ! Urologic Neoplasms

[Term]
id: DOID:9002379
name: Congenital Deficiency of Pulmonary Surfactant Protein B
synonym: "Congenital Surfactant Protein-B Deficiency" EXACT []
synonym: "Pulmonary Surfactant Protein B, Deficiency of" EXACT []
synonym: "Surfactant Protein B Deficiency" EXACT []
xref: MESH:C553654
xref: RDO:0009971
is_a: DOID:12120 ! pulmonary alveolar proteinosis

[Term]
id: DOID:9002381
name: Progressive Familial Intrahepatic Cholestasis 9
def: "An autosomal recessive disorder characterized by onset of cholestasis associated with increased serum gamma-glutamyltransferase (GGT) in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the ZFYVE19 gene on chromosome 15q15." [MIM:619849]
synonym: "PFIC9" EXACT []
xref: MIM:619849
is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis
created_by: mtutaj
creation_date: 2022-04-28T11:48:31Z

[Term]
id: DOID:9002382
name: Alopecia Universalis, Onychodystrophy, Vitiligo
alt_id: RDO:0002816
synonym: "Alopecia universalis, onychodystrophy, and total vitiligo" EXACT []
xref: MESH:C537056
is_a: DOID:0050634 ! alopecia universalis
is_a: DOID:12306 ! vitiligo
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9002383
name: Lamb-Shaffer Syndrome
alt_id: RDO:9000386
def: "A neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. (OMIM)" []
synonym: "LAMSHF" RELATED []
xref: MIM:616803
is_a: DOID:225 ! syndrome
is_a: DOID:9008086 ! Developmental Disabilities
created_by: rgd
creation_date: 2016-03-11T00:00:00Z

[Term]
id: DOID:9002385
name: Limb-Mammary Syndrome
alt_id: MIM:603543
synonym: "LMS" EXACT []
synonym: "mammary hypoplasia, ectrodactyly, and other hand-foot anomalies" EXACT []
xref: MESH:C535903
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9002387
name: FG Syndrome 2
def: "The phenotypic spectrum and severity of this disease is wide, but the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation." [MIM:300321]
synonym: "FGS2" EXACT []
xref: MIM:300321
is_a: DOID:14711 ! FG syndrome
created_by: mtutaj
creation_date: 2020-02-17T13:16:31Z

[Term]
id: DOID:9002388
name: Chromosome 13q Trisomy
synonym: "Duplication 13q" EXACT []
synonym: "Trisomy 13q" EXACT []
xref: MESH:C535485
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9002389
name: Costocoracoid Ligament Congenitally Short
alt_id: MIM:122580
synonym: "Congenital shortness of the costocoracoid ligament" EXACT []
xref: MESH:C536448
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002390
name: Primary Cutaneous Anaplastic Large Cell Lymphoma
def: "Anaplastic lymphoma of the skin which develops as a primary neoplasm expressing the CD30 ANTIGEN. It is characterized by solitary nodules or ulcerated tumors." [MESH:D054446]
synonym: "Primary Cutaneous CD30 positive Large T Cell Lymphoma" EXACT []
xref: MESH:D054446
is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma

[Term]
id: DOID:9002391
name: Arterial Dissection with Lentiginosis
alt_id: MIM:600459
xref: MESH:C563937
is_a: DOID:178 ! vascular disease
is_a: DOID:9000319 ! Lentigo

[Term]
id: DOID:9002393
name: Isolated Prolactin Deficiency
alt_id: MIM:264110
xref: MESH:C562708
is_a: DOID:630 ! genetic disease
is_a: DOID:9008748 ! Lactation Disorders

[Term]
id: DOID:9002394
name: INTERSTITIAL LUNG AND LIVER DISEASE
def: "An autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood." [MIM:615486]
synonym: "ILLD" EXACT []
synonym: "PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND" EXACT []
xref: MIM:615486
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:409 ! liver disease
created_by: slaulede
creation_date: 2018-11-09T10:44:53Z

[Term]
id: DOID:9002395
name: Hypothermia
def: "Lower than normal body temperature, especially in warm-blooded animals." [MESH:D007035]
synonym: "Accidental Hypothermia" EXACT []
synonym: "Accidental Hypothermias" EXACT []
synonym: "Hypothermias" EXACT []
xref: MESH:D007035
is_a: DOID:9008809 ! Body Temperature Changes

[Term]
id: DOID:9002396
name: Spinocerebellar Ataxia 50
def: "An autosomal dominant neurologic disorder characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging. Caused by heterozygous mutation in the NPTX1 gene on chromosome 17q25." [MIM:620158]
synonym: "SCA50" EXACT []
xref: MIM:620158
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
created_by: mtutaj
creation_date: 2022-12-21T15:33:40Z

[Term]
id: DOID:9002397
name: Congenital Disorder of Glycosylation, Type I/IIx
alt_id: MIM:212067
alt_id: RDO:0012390
def: "Untyped and unclassified cases of Congenital Disorder of Glycosylation. (OMIM)" []
synonym: "CDG-x" EXACT []
xref: MESH:C562844
is_a: DOID:5212 ! congenital disorder of glycosylation

[Term]
id: DOID:9002398
name: ANOREXIA NERVOSA 2
is_a: DOID:8689 ! anorexia nervosa
created_by: slaulede
creation_date: 2019-06-26T10:33:27Z

[Term]
id: DOID:9002399
name: Takotsubo Cardiomyopathy
def: "A transient left ventricular apical dysfunction or ballooning accompanied by electrocardiographic (ECG) T wave inversions. This abnormality is associated with high levels of CATECHOLAMINES, either administered or endogenously secreted from a tumor or during extreme stress." [MESH:D054549]
synonym: "Apical Ballooning Syndrome" EXACT []
synonym: "Broken Heart Syndrome" EXACT []
synonym: "Left Ventricular Apical Ballooning Syndrome" EXACT []
synonym: "Stress Cardiomyopathy" EXACT []
synonym: "Syndromes, Broken Heart" EXACT []
synonym: "Tako tsubo Cardiomyopathy" EXACT []
synonym: "Tako tsubo Syndrome" EXACT []
synonym: "Takotsubo Syndrome" EXACT []
synonym: "Tako-tsubo Syndromes" EXACT []
synonym: "Transient Apical Ballooning Syndrome" EXACT []
xref: EFO:1002000
xref: MESH:D054549
xref: NCI:C85181
xref: RDO:0004600
is_a: DOID:9001747 ! Ventricular Dysfunction, Left

[Term]
id: DOID:9002400
name: Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy
alt_id: MIM:207740
xref: MESH:C565945
is_a: DOID:0080000 ! muscular disease
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9002402
name: Slowed Nerve Conduction Velocity, Autosomal Dominant
alt_id: MIM:608236
alt_id: OMIA:001917
synonym: "SNCV" EXACT []
xref: MESH:C564269
xref: RDO:0013292
is_a: DOID:2477 ! motor peripheral neuropathy

[Term]
id: DOID:9002403
name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
synonym: "Megalencephaly, Mega Corpus Callosum, And Complete Lack Of Motor Development" EXACT []
synonym: "Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome" EXACT []
synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic" NARROW []
synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT []
synonym: "Meg-Pmg-Megacc Syndrome" EXACT []
synonym: "MPPH" EXACT []
xref: GARD:10341
xref: MESH:C566381
xref: MIM:PS603387
xref: MONDO:0019375
xref: ORDO:83473
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:1148 ! polydactyly
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9002404
name: Systemic Hemosiderosis due to Aceruloplasminemia
xref: MESH:C565801
is_a: DOID:12119 ! hemosiderosis

[Term]
id: DOID:9002406
name: Bernard-Soulier Syndrome, Autosomal Dominant
xref: MESH:C567696
is_a: DOID:2217 ! Bernard-Soulier syndrome

[Term]
id: DOID:9002407
name: Spinal Fractures
def: "Broken bones in the vertebral column." [MESH:D016103]
synonym: "Hangman's Fracture" EXACT []
synonym: "Hangman Fracture" EXACT []
synonym: "Hangmans Fracture" EXACT []
synonym: "Spinal Fracture" EXACT []
xref: EFO:0003902
xref: MESH:D016103
is_a: DOID:9001077 ! Spinal Injuries
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9002408
name: Sketetal Dysplasia Coarse Facies Mental Retardation
synonym: "Spondyloepimetaphyseal dysplasia X-linked with mental deterioration" EXACT []
xref: MESH:C536671
xref: RDO:0002317
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9002409
name: Amniotic Band Sequence
alt_id: MIM:217100
synonym: "Amniotic bands sequence" EXACT []
synonym: "Congenital constricting bands" EXACT []
synonym: "Familial amniotic bands" EXACT []
synonym: "Streeter anomaly" EXACT []
xref: MESH:C531614
is_a: DOID:9005644 ! Amniotic Band Syndrome

[Term]
id: DOID:9002410
name: Saul Wilkes Stevenson syndrome
xref: MESH:C536617
is_a: DOID:14261 ! fragile X syndrome

[Term]
id: DOID:9002411
name: Crome Syndrome
alt_id: MIM:218900
xref: MESH:C536216
is_a: DOID:225 ! syndrome
is_a: DOID:3021 ! acute kidney failure
is_a: DOID:83 ! cataract
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9002412
name: Ovarian Dysgenesis 10
def: "Characterized by primary amenorrhea and absent puberty. Caused by homozygous mutation in the ZSWIM7 gene on chromosome 17p12." [MIM:619834]
synonym: "ODG10" EXACT []
xref: MIM:619834
is_a: DOID:14450 ! 46 XX gonadal dysgenesis
created_by: mtutaj
creation_date: 2022-04-12T14:30:46Z

[Term]
id: DOID:9002414
name: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES
def: "This disease is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities." [MIM:619522]
synonym: "NECRC" EXACT []
xref: MIM:619522
is_a: DOID:114 ! heart disease
is_a: DOID:557 ! kidney disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: slaulede
creation_date: 2021-10-21T15:28:16Z

[Term]
id: DOID:9002415
name: Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension
alt_id: MIM:166990
xref: MESH:C563478
is_a: DOID:10763 ! hypertension
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9001999 ! Agenesis of Corpus Callosum

[Term]
id: DOID:9002416
name: X Inactivation, Familial Skewed, 1
synonym: "SXI1" EXACT []
xref: MESH:C564716
xref: MIM:300087
xref: MONDO:0026404
is_a: DOID:0050735 ! X-linked monogenic disease

[Term]
id: DOID:9002417
name: Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant
def: "A form of cerebral small vessel disease (cSVD) resulting in the onset of recurrent ischemic strokes in the thirties or forties. Affected individuals develop progressive, cognitive and motor impairment, consistent with progressive multi-infarct dementia. Brain imaging shows lacunar infarcts, often with a pontine predilection, as well as diffuse leukoencephalopathy affecting various brain regions." []
synonym: "DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE" EXACT []
synonym: "PADMAL" EXACT []
xref: MIM:618564
is_a: DOID:178 ! vascular disease
is_a: DOID:9002704 ! Leukoencephalopathies
created_by: slaulede
creation_date: 2019-10-10T13:15:11Z

[Term]
id: DOID:9002418
name: Chromosome 22, Monosome Mosaic
synonym: "Chromosome 22 mosaic monosomy" EXACT []
synonym: "Mosaic Monosome 22" EXACT []
xref: MESH:C536798
xref: RDO:0002489
is_a: DOID:0080014 ! chromosomal disease

[Term]
id: DOID:9002419
name: Multisystem Autoimmune Disease, Infantile-Onset
xref: MIM:PS615952
xref: RDO:9005173
is_a: DOID:417 ! autoimmune disease
created_by: rgd
creation_date: 2017-12-05T00:00:00Z

[Term]
id: DOID:9002420
name: BDV Syndrome
def: "This disease is an autosomal recessive disorder characterized by obesity, impaired intellectual development, and hypogonadotropic hypogonadism." [MIM:619326]
synonym: "BDV" EXACT []
synonym: "Blakemore-Durmaz-Vasileiou syndrome" EXACT []
synonym: "CPE-RELATED CONDITION" EXACT []
synonym: "IDDHH" EXACT []
synonym: "intellectual developmental disorder and hypogonadotropic hypogonadism" EXACT []
xref: MIM:619326
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:1059 ! intellectual disability
created_by: slaulede
creation_date: 2021-08-13T17:40:22Z

[Term]
id: DOID:9002421
name: Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development
def: "An early childhood-onset neurologic disorder characterized by slowly progressive distal motor impairment resulting in gait difficulties, often with loss of ambulation, and difficulties using the hands in most patients. (OMIM)" []
synonym: "MCM3AP-RELATED CONDITION" EXACT []
synonym: "PNRIID" EXACT []
xref: MIM:618124
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:870 ! neuropathy
created_by: slaulede
creation_date: 2019-01-16T17:05:56Z

[Term]
id: DOID:9002422
name: Thrombocytopenia, Anemia, and Myelofibrosis
alt_id: RDO:9001733
synonym: "THAMY" EXACT []
xref: MIM:617441
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:2355 ! anemia
is_a: DOID:9006561 ! Familial Myelofibrosis

[Term]
id: DOID:9002423
name: Spirochaetales Infections
def: "Infections with bacteria of the order SPIROCHAETALES." [MESH:D013145]
synonym: "Spirochaetales Infection" EXACT []
synonym: "Spirochete Infection" EXACT []
synonym: "Spirochete Infections" EXACT []
xref: EFO:0009567
xref: MESH:D013145
xref: RDO:0005038
is_a: DOID:104 ! bacterial infectious disease

[Term]
id: DOID:9002424
name: SCARF Syndrome
alt_id: MIM:312830
synonym: "Skeletal Abnormalities, Cutis Laxa, Craniostenosis, Ambiguous Genitalia, Retardation, And Facial Abnormalities" EXACT []
xref: MESH:C536625
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:3144 ! cutis laxa
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9002426
name: Ventricular Fibrillation, Paroxysmal Familial, 2
alt_id: MIM:612956
synonym: "VF2" EXACT []
xref: MESH:C567841
xref: RDO:0012060
is_a: DOID:9004416 ! Paroxysmal Ventricular Fibrillation

[Term]
id: DOID:9002427
name: Fetal Macrosomia
def: "A condition of fetal overgrowth leading to a large-for-gestational-age FETUS. It is defined as BIRTH WEIGHT greater than 4,000 grams or above the 90th percentile for population and sex-specific growth curves. It is commonly seen in GESTATIONAL DIABETES; PROLONGED PREGNANCY; and pregnancies complicated by pre-existing diabetes mellitus." [MESH:D005320]
synonym: "Fetal Macrosomias" EXACT []
xref: MESH:D005320
is_a: DOID:11714 ! gestational diabetes
is_a: DOID:9000888 ! Pregnancy in Diabetics
is_a: DOID:9001984 ! Fetal Diseases
is_a: DOID:9002661 ! Diabetes Complications
is_a: DOID:9003996 ! Birth Weight

[Term]
id: DOID:9002428
name: Blue Rubber Bleb Nevus Syndrome
alt_id: MIM:112200
synonym: "Bean syndrome" EXACT []
synonym: "Blue rubber bleb nevus" EXACT []
xref: MESH:C536240
is_a: DOID:225 ! syndrome
is_a: DOID:9001740 ! Blue Nevus
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:9006796 ! Gastrointestinal Neoplasms

[Term]
id: DOID:9002429
name: Colorblindness, Partial Tritanomaly
synonym: "Tritanomalous Colorblindness" EXACT []
xref: MESH:C564440
xref: RDO:0013404
is_a: DOID:13399 ! color blindness

[Term]
id: DOID:9002430
name: Tarsal Coalition
alt_id: MIM:186850
def: "Congenital, complete or partial fusion of the TARSAL BONES of the foot. PES PLANUS is usually a feature." [MESH:D000070604]
synonym: "Tarsal Coalitions" EXACT []
synonym: "Tarsal Fusion" EXACT []
synonym: "Tarsal Synostoses" EXACT []
synonym: "Tarsal Synostosis" EXACT []
xref: MESH:D000070604
is_a: DOID:11971 ! synostosis
is_a: DOID:9000067 ! Congenital Foot Deformities

[Term]
id: DOID:9002431
name: Microcornea, Glaucoma, and Absent Frontal Sinuses
alt_id: MIM:156700
synonym: "Hereditary microcornea, glaucoma, and absent frontal sinuses" EXACT []
xref: MESH:C537552
is_a: DOID:1686 ! glaucoma
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9002432
name: Orofaciodigital Syndrome 13
xref: MESH:C548035
is_a: DOID:4501 ! orofaciodigital syndrome

[Term]
id: DOID:9002433
name: Schistosomiasis Japonica
def: "Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen." [MESH:D012554]
synonym: "schistosoma japonicum infection" EXACT []
synonym: "schistosomiasis japonicum" EXACT []
xref: EFO:1001419
xref: MESH:D012554
xref: NCI:C35001
is_a: DOID:0050597 ! intestinal schistosomiasis

[Term]
id: DOID:9002434
name: Keratoconus 3
alt_id: MIM:608586
synonym: "KTCN3" EXACT []
xref: MESH:C563900
is_a: DOID:10126 ! keratoconus

[Term]
id: DOID:9002435
name: Metabolic Skin Diseases
def: "Diseases of the skin associated with underlying metabolic disorders." [MESH:D012875]
synonym: "Metabolic Skin Disease" EXACT []
xref: MESH:D012875
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9002438
name: Foreign-Body Reaction
def: "Chronic inflammation and granuloma formation around irritating foreign bodies." [MESH:D005549]
xref: MESH:D005549
xref: RDO:0005626
is_a: DOID:9003074 ! Foreign Bodies
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:9002439
name: Oliver Syndrome
alt_id: MIM:258200
synonym: "postaxial polydactyly and mental retardation" EXACT []
xref: MESH:C564931
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9003071 ! Postaxial Polydactyly

[Term]
id: DOID:9002441
name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26
synonym: "autosomal recessive limb-girdle muscular dystrophy-26" EXACT []
synonym: "LGMDR26" EXACT []
xref: MIM:618848
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy
created_by: mtutaj
creation_date: 2020-04-22T08:38:09Z

[Term]
id: DOID:9002443
name: Dupuytren Contracture 1
xref: MESH:C565083
xref: RDO:0013821
is_a: DOID:9003793 ! Dupuytren Contracture

[Term]
id: DOID:9002444
name: Madelung Deformity
xref: MESH:C562398
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9002445
name: Anal Sphincter Dysplasia
alt_id: MIM:105563
synonym: "ASDP" EXACT []
xref: MESH:C538254
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9001581 ! Constipation
is_a: DOID:9007845 ! Encopresis
is_a: DOID:9008184 ! Fecal Incontinence

[Term]
id: DOID:9002446
name: Combined Pituitary Hormone Deficiency 5
alt_id: MESH:C531815
synonym: "CPHD5" EXACT []
synonym: "growth hormone deficiency with pituitary anomalies" EXACT []
synonym: "hypopituitarism and septooptic dysplasia" EXACT []
xref: MESH:C567632
is_a: DOID:0060857 ! septooptic dysplasia
is_a: DOID:9410 ! panhypopituitarism

[Term]
id: DOID:9002447
name: Myoectodermal Gonadal Dysgenesis Syndrome
alt_id: DOID:9004145
alt_id: DOID:9007683
alt_id: MESH:C537019
alt_id: MESH:C565536
def: "GDRM is characterized by 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, including low birth weight, typical facial gestalt, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. GDRM is caused by homozygous mutation in the PPP2R3C gene on chromosome 14q13. (OMIM)" []
synonym: "AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS" EXACT []
synonym: "Agonadism mental retardation delayed bone age" EXACT []
synonym: "BKGK" EXACT []
synonym: "Brosnan-Kennerknecht-Guran-Koc Syndrome" EXACT []
synonym: "GDRM" EXACT []
synonym: "Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy" EXACT []
synonym: "Gonadal Dysgenesis, XY Type, with Associated Anomalies" EXACT []
synonym: "Kennerknecht Vogel Syndrome" EXACT []
synonym: "MEGD" EXACT []
xref: MIM:618419
is_a: DOID:0080001 ! bone disease
is_a: DOID:14448 ! 46,XY sex reversal
is_a: DOID:225 ! syndrome
is_a: DOID:423 ! myopathy
is_a: DOID:8501 ! fundus dystrophy
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: gthayman
creation_date: 2019-05-29T11:34:32Z

[Term]
id: DOID:9002448
name: Thrombotic Thrombocytopenic Purpura, Acquired
synonym: "Idiopathic thrombotic thrombocytopenic purpura" EXACT []
synonym: "Moschowitz syndrome" EXACT []
xref: MESH:C536901
is_a: DOID:10772 ! thrombotic thrombocytopenic purpura

[Term]
id: DOID:9002449
name: Glomus Jugulare Tumor
def: "A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4)" [MESH:D005925]
synonym: "familial glomus tumors, 1" EXACT []
synonym: "glomus jugulare tumors" EXACT []
xref: EFO:1000353
xref: EFO:1001796
xref: MESH:D005925
is_a: DOID:0050773 ! paraganglioma

[Term]
id: DOID:9002450
name: Iliotibial Band Syndrome
def: "An overuse injury causing lateral knee pain that results from repetitive friction of the iliotibial band over the lateral femoral epicondyle." [MESH:D058745]
xref: MESH:D058745
is_a: DOID:225 ! syndrome
is_a: DOID:9004498 ! Cumulative Trauma Disorders
is_a: DOID:9008290 ! Knee Injuries

[Term]
id: DOID:9002451
name: Macrodactyly of the Foot
synonym: "Megalodactylism of the foot" EXACT []
synonym: "Megalodactyly of the foot" EXACT []
xref: MESH:C537719
xref: RDO:0003608
is_a: DOID:9000067 ! Congenital Foot Deformities

[Term]
id: DOID:9002453
name: Cafe-au-Lait Spots
def: "Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC)." [MESH:D019080]
synonym: "Cafe-au-Lait Spot" EXACT []
xref: MESH:D019080
xref: RDO:0000894
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9007472 ! Skin Manifestations

[Term]
id: DOID:9002456
name: Peritonsillar Abscess
def: "An accumulation of purulent material in the area between the PALATINE TONSIL and its capsule." [MESH:D000039]
synonym: "Peritonsillar Abscesses" EXACT []
xref: EFO:0007429
xref: MESH:D000039
is_a: DOID:10456 ! tonsillitis
is_a: DOID:9000325 ! Abscess

[Term]
id: DOID:9002457
name: Experimental Arthritis
def: "ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN." [MESH:D001169]
synonym: "Adjuvant Arthritis" EXACT []
synonym: "Arthritis, Adjuvant-Induced" EXACT []
synonym: "Collagen Arthritides" EXACT []
synonym: "Collagen Arthritis" EXACT []
synonym: "Collagen-Induced Arthritides" EXACT []
synonym: "Collagen-Induced Arthritis" EXACT []
xref: EFO:1001787
xref: MESH:D001169
is_a: DOID:848 ! arthritis
is_a: DOID:9006205 ! Animal Disease Models

[Term]
id: DOID:9002458
name: Roifman Syndrome
alt_id: MIM:616651
synonym: "RFMN" EXACT []
synonym: "Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency" EXACT []
synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY" EXACT []
xref: MESH:C535866
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:5679 ! retinal disease
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9002459
name: ocular sarcoidosis
def: "This disease is a leading cause of inflammatory eye disease. Ocular sarcoidosis can involve any part of the eye, and may cause uveitis, scleritis, eyelid abnormalities, conjunctival granuloma, optic neuropathy, lacrimal gland enlargement and orbital inflammation." [EFO:0010723]
xref: EFO:0010723
is_a: DOID:11335 ! sarcoidosis
is_a: DOID:5614 ! eye disease
created_by: slaulede
creation_date: 2023-01-20T13:22:38Z

[Term]
id: DOID:9002460
name: Progressive Familial Intrahepatic Cholestasis 7
def: "An autosomal recessive liver disorder characterized by infantile-onset jaundice and itching associated with cholestasis, elevated alanine aminotransferase (ALT) and aspartate aminotransferase (AST), and normal gamma glutamyltransferase (GGT). Caused by homozygous or compound heterozygous mutation in the USP53 gene on chromosome 4q26." [MIM:619658]
synonym: "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS" EXACT []
synonym: "PFIC7" EXACT []
synonym: "progressive intrahepatic cholestasis 7 with or without hearing loss" EXACT []
xref: MIM:619658
is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis
created_by: mtutaj
creation_date: 2021-12-22T09:23:10Z

[Term]
id: DOID:9002461
name: Pruritus Vulvae
def: "Intense itching of the external female genitals." [MESH:D011539]
xref: MESH:D011539
is_a: DOID:2059 ! vulvar disease
is_a: DOID:9006202 ! Pruritus

[Term]
id: DOID:9002462
name: Distal Symphalangism, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch
alt_id: MIM:606895
synonym: "Distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch" EXACT []
xref: MESH:C538148
is_a: DOID:5608 ! dental pulp calcification

[Term]
id: DOID:9002463
name: Premature Aging Syndrome, Okamoto Type
alt_id: MIM:601811
xref: MESH:C566621
is_a: DOID:3911 ! progeria

[Term]
id: DOID:9002464
name: Autoimmune Hypophysitis
def: "Immune-mediated inflammation of the PITUITARY GLAND often associated with other autoimmune diseases (e.g., HASHIMOTO DISEASE; GRAVES DISEASE; and ADDISON DISEASE)." [MESH:D000069281]
synonym: "Anti PIT 1 Antibody Syndrome" EXACT []
synonym: "Anti-PIT-1 Antibody Syndromes" EXACT []
synonym: "Autoimmune Hypophysitides" EXACT []
synonym: "Idiopathic Granulomatous Hypophysitides" EXACT []
synonym: "Idiopathic Granulomatous Hypophysitis" EXACT []
synonym: "IgG4-Related Hypophysitides" EXACT []
synonym: "IgG4 Related Hypophysitis" EXACT []
synonym: "Lymphocytic Adenohypophysitides" EXACT []
synonym: "Lymphocytic Adenohypophysitis" EXACT []
synonym: "Lymphocytic Hypophysitides" EXACT []
synonym: "Lymphocytic Hypophysitis" EXACT []
synonym: "Lymphocytic Infundibuloneurohypophysitides" EXACT []
synonym: "Lymphocytic Infundibuloneurohypophysitis" EXACT []
synonym: "Lymphocytic Panhypophysitides" EXACT []
synonym: "Lymphocytic Panhypophysitis" EXACT []
synonym: "Lymphoid Hypophysitides" EXACT []
synonym: "Lymphoid Hypophysitis" EXACT []
xref: MESH:D000069281
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9004817 ! Hypophysitis

[Term]
id: DOID:9002465
name: Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis
alt_id: MIM:192050
xref: MESH:C566010
is_a: DOID:9004458 ! Hematocolpos

[Term]
id: DOID:9002466
name: Ring Chromosome 20 Syndrome
alt_id: RDO:0000451
synonym: "R(20) Syndrome" EXACT []
synonym: "Ring 20 Syndrome" EXACT []
synonym: "Ring Chromosome 20" EXACT []
synonym: "Ring Chromosome 20 Epilepsy Syndrome" EXACT []
xref: MESH:C535369
xref: MESH:C580424
xref: NCI:C169001
xref: RDO:0015922
is_a: DOID:225 ! syndrome
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9002467
name: Mycoplasma Infections
def: "Infections with species of the genus MYCOPLASMA." [MESH:D009175]
synonym: "Eperythrozoonoses" EXACT []
synonym: "Eperythrozoonosis" EXACT []
synonym: "Mycoplasma Infection" EXACT []
xref: MESH:D009175
is_a: DOID:9008587 ! Mycoplasmatales Infections

[Term]
id: DOID:9002468
name: Sleep Paralysis
def: "A common condition characterized by transient partial or total paralysis of skeletal muscles and areflexia that occurs upon awakening from sleep or less often while falling asleep. Stimuli such as touch or sound may terminate the episode, which usually has a duration of seconds to minutes. This condition may occur in normal subjects or be associated with NARCOLEPSY; CATAPLEXY; and hypnagogic HALLUCINATIONS. The pathophysiology of this condition is closely related to the normal hypotonia that occur during REM sleep. (From Adv Neurol 1995;67:245-271)" [MESH:D020188]
xref: MESH:D020188
is_a: DOID:9000475 ! REM Sleep Parasomnias

[Term]
id: DOID:9002469
name: Carpenter Syndrome 2
synonym: "CRPT2" EXACT []
xref: MIM:614976
is_a: DOID:0060234 ! Carpenter syndrome

[Term]
id: DOID:9002470
name: Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome
alt_id: RDO:9000495
synonym: "RDCCAS" EXACT []
xref: MIM:615147
is_a: DOID:12270 ! coloboma
is_a: DOID:225 ! syndrome
is_a: DOID:6543 ! acne
is_a: DOID:8501 ! fundus dystrophy

[Term]
id: DOID:9002471
name: Progressive Familial Intrahepatic Cholestasis 6
def: "An autosomal recessive disorder characterized by elevated liver transaminases, cholestasis, and congenital diarrhea. Caused by homozygous mutation in the SLC51A gene on chromosome 3q29. (OMIM)" []
synonym: "PFIC6" EXACT []
xref: MIM:619484
is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis
created_by: mtutaj
creation_date: 2021-08-25T10:40:16Z

[Term]
id: DOID:9002472
name: Small Intestinal Diverticulosis
alt_id: MIM:223320
xref: MESH:C565620
is_a: DOID:9001008 ! Diverticulum

[Term]
id: DOID:9002473
name: Blast Crisis
def: "An advanced phase of chronic myelogenous leukemia, characterized by a rapid increase in the proportion of immature white blood cells (blasts) in the blood and bone marrow to greater than 30%." [MESH:D001752]
synonym: "Blast Crises" EXACT []
synonym: "Blast Phase" EXACT []
synonym: "Blast Phases" EXACT []
xref: EFO:1000131
xref: MESH:D001752
is_a: DOID:8552 ! chronic myeloid leukemia
is_a: DOID:9007608 ! Neoplastic Cell Transformation

[Term]
id: DOID:9002474
name: Isolated Microphthalmia with Cataract 4
synonym: "MCOPCT4" EXACT []
xref: MESH:C566480
is_a: DOID:0080637 ! isolated microphthalmia
is_a: DOID:83 ! cataract

[Term]
id: DOID:9002476
name: Infantile Nephropathic Cystinosis
alt_id: RDO:0014234
xref: MESH:C565655
is_a: DOID:1064 ! cystinosis

[Term]
id: DOID:9002477
name: Deafness-Infertility Syndrome
synonym: "Chromosome 15q15.3 Deletion Syndrome" EXACT []
synonym: "DIS" EXACT []
synonym: "Sensorineural Deafness and Male Infertility" EXACT []
xref: MESH:C567010
xref: MIM:611102
xref: MONDO:0012621
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:12336 ! male infertility

[Term]
id: DOID:9002479
name: Otofaciocervical Syndrome 2
synonym: "OCULO-AURICULO-VERTEBRAL SPECTRUM" EXACT []
synonym: "OFC2" EXACT []
synonym: "OTFCS2" EXACT []
xref: MIM:615560
is_a: DOID:14702 ! branchiootorenal syndrome

[Term]
id: DOID:9002480
name: Hydrocephalus, Endocardial Fibroelastosis, and Cataracts
alt_id: MIM:600559
synonym: "communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts" EXACT []
synonym: "HEC syndrome" EXACT []
xref: MESH:C535855
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:12929 ! endocardial fibroelastosis
is_a: DOID:83 ! cataract

[Term]
id: DOID:9002482
name: Mitochondrial Myopathy with Diabetes
alt_id: MIM:500002
synonym: "Mitochondrial Myopathy, Lipid Type" EXACT []
xref: MESH:C564026
is_a: DOID:699 ! mitochondrial myopathy
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9002483
name: Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency
xref: MESH:C564868
is_a: DOID:11612 ! polycystic ovary syndrome

[Term]
id: DOID:9002484
name: Maxillary Diseases
def: "Diseases involving the MAXILLA." [MESH:D008439]
synonym: "Maxillary Disease" EXACT []
xref: MESH:D008439
is_a: DOID:9003876 ! Jaw Diseases

[Term]
id: DOID:9002485
name: Epiphyseal Dysplasia, Baumann Type
alt_id: MIM:610797
xref: MESH:C563664
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9002486
name: Idiopathic Generalized Epilepsy 18
synonym: "EIG18" EXACT []
synonym: "idiopathic generalized epilepsy, susceptibility to, 18" RELATED []
xref: MIM:619521
is_a: DOID:1827 ! idiopathic generalized epilepsy
created_by: mtutaj
creation_date: 2021-09-14T16:20:43Z

[Term]
id: DOID:9002487
name: Trueb Burg Bottani Syndrome
synonym: "Ectodermal dysplasia with corkscrew hairs" EXACT []
synonym: "Tricho-odonto-onychodysplasia with syndactyly" EXACT []
xref: MESH:C536565
is_a: DOID:0050472 ! monilethrix
is_a: DOID:11193 ! syndactyly
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9002488
name: Peritoneal Fibrosis
def: "Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency." [MESH:D056627]
synonym: "Encapsulating Peritoneal Scleroses" EXACT []
synonym: "Encapsulating Peritoneal Sclerosis" EXACT []
synonym: "Peritoneal Fibroses" EXACT []
synonym: "Peritoneal Fibrosing Syndrome" EXACT []
synonym: "Peritoneal Fibrosing Syndromes" EXACT []
synonym: "Peritoneal Scleroses" EXACT []
synonym: "Peritoneal Sclerosis" EXACT []
xref: EFO:1001394
xref: MESH:D056627
xref: RDO:0007745
is_a: DOID:9000784 ! Fibrosis
is_a: DOID:9006175 ! Peritoneal Diseases

[Term]
id: DOID:9002489
name: Genochondromatosis
alt_id: MIM:137360
xref: MESH:C563215
is_a: DOID:9000685 ! Chondromatosis
is_a: DOID:9004389 ! Bone Neoplasms
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:9002490
name: Benign Recurrent Vertigo 1
alt_id: MIM:193007
synonym: "BRV1" EXACT []
xref: MESH:C567620
is_a: DOID:13941 ! benign paroxysmal positional vertigo

[Term]
id: DOID:9002491
name: Pre-Excitation Syndromes
def: "A group of conditions in which HEART VENTRICLE activation by the atrial impulse is faster than the normal impulse conduction from the SINOATRIAL NODE. In these pre-excitation syndromes, atrial impulses often bypass the ATRIOVENTRICULAR NODE delay and travel via ACCESSORY CONDUCTING PATHWAYS connecting the atrium directly to the BUNDLE OF HIS." [MESH:D011226]
synonym: "Pre-Excitation Syndrome" EXACT []
synonym: "Preexcitation Syndrome" EXACT []
synonym: "Preexcitation Syndromes" EXACT []
xref: MESH:D011226
is_a: DOID:225 ! syndrome
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:9002492
name: Auriculocondylar Syndrome 1
synonym: "ARCND1" EXACT []
xref: MIM:602483
is_a: DOID:9000208 ! Auriculocondylar Syndrome

[Term]
id: DOID:9002493
name: Ocular Neovascularization
def: "Formation of new blood vessels invading the cornea, the retina, or the choroid." []
synonym: "neovascularization within the eye" EXACT []
xref: RDO:9001268
is_a: DOID:5614 ! eye disease
is_a: DOID:9003204 ! Neovascularization, Pathologic
created_by: rgd
creation_date: 2016-10-14T00:00:00Z

[Term]
id: DOID:9002494
name: Mitochondrial Myopathy with Lactic Acidosis
alt_id: MIM:251950
synonym: "EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA" NARROW []
synonym: "MMLA" EXACT []
xref: MESH:C537476
is_a: DOID:0060140 ! cortical deafness
is_a: DOID:3650 ! lactic acidosis
is_a: DOID:699 ! mitochondrial myopathy
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9002495
name: Fitzsimmons Walson Mellor Syndrome
xref: MESH:C537937
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:2986 ! IgA glomerulonephritis
is_a: DOID:9007428 ! Muscle Spasticity

[Term]
id: DOID:9002496
name: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
synonym: "congenital thrombocytopenia with radioulnar synostosis" EXACT []
synonym: "CTRUS" EXACT []
synonym: "RUSAT" EXACT []
xref: MESH:C565328
xref: MIM:PS605432
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:9827 ! radioulnar synostosis

[Term]
id: DOID:9002497
name: Immune Suppression
synonym: "IS" EXACT []
synonym: "ISCW" EXACT []
synonym: "ISSCW" EXACT []
synonym: "suppression of immune response to streptococcal cell wall antigen" EXACT []
xref: MIM:146850
is_a: DOID:2914 ! immune system disease
is_a: DOID:9006844 ! Streptococcal Infections

[Term]
id: DOID:9002498
name: Wallerian Degeneration
def: "Degeneration of distal aspects of a nerve axon following injury to the cell body or proximal portion of the axon. The process is characterized by fragmentation of the axon and its MYELIN SHEATH." [MESH:D014855]
xref: MESH:D014855
is_a: DOID:9002955 ! Nerve Degeneration

[Term]
id: DOID:9002500
name: Hearing Disorders
def: "Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways." [MESH:D006311]
synonym: "Distorted Hearing" EXACT []
synonym: "Dysacusis" EXACT []
synonym: "Hearing Disorder" EXACT []
synonym: "Paracousis" EXACT []
synonym: "Paracusis" EXACT []
xref: MESH:D006311
is_a: DOID:0050155 ! sensory system disease
is_a: DOID:2742 ! auditory system disease

[Term]
id: DOID:9002501
name: Roseolovirus Infections
def: "Infection with ROSEOLOVIRUS, the most common in humans being EXANTHEMA SUBITUM, a benign disease of infants and young children." [MESH:D019349]
synonym: "Roseolovirus Infection" EXACT []
xref: EFO:0007474
xref: MESH:D019349
is_a: DOID:9002834 ! Herpesviridae Infections

[Term]
id: DOID:9002502
name: Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts
synonym: "HDBSCC" EXACT []
xref: MIM:613730
xref: RDO:0009957
is_a: DOID:182 ! calcinosis
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:9002503
name: Neutropenic Enterocolitis
alt_id: RDO:0007510
def: "A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST)." [MESH:D044504]
synonym: "Ileocecal Syndrome" EXACT []
xref: EFO:1001816
xref: MESH:D044504
is_a: DOID:225 ! syndrome
is_a: DOID:9002805 ! Enterocolitis

[Term]
id: DOID:9002504
name: Odontogenic Cysts
def: "Cysts found in the jaws and arising from epithelium involved in tooth formation. They include follicular cysts (e.g., primordial cyst, dentigerous cyst, multilocular cyst), lateral periodontal cysts, and radicular cysts. They may become keratinized (odontogenic keratocysts). Follicular cysts may give rise to ameloblastomas and, in rare cases, undergo malignant transformation." [MESH:D009807]
synonym: "Keratocyst" EXACT []
synonym: "Keratocysts" EXACT []
synonym: "Odontogenic Cyst" EXACT []
xref: EFO:1000406
xref: MESH:D009807
is_a: DOID:9004816 ! Jaw Cysts

[Term]
id: DOID:9002505
name: Wilms Tumor 3
alt_id: MIM:194090
synonym: "WT3" EXACT []
xref: MESH:C565991
is_a: DOID:2154 ! nephroblastoma

[Term]
id: DOID:9002506
name: Autosomal Dominant Nonsyndromic Deafness 88
def: "A nonsyndromic postlingual progressive severe sensorineural hearing loss with tinnitus, caused by heterozygous mutation in the EPHA10 gene on chromosome 1p34." [MIM:620283]
synonym: "Deafness, autosomal dominant 88" EXACT []
synonym: "DFNA88" EXACT []
xref: MIM:620283
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2023-03-14T10:12:31Z

[Term]
id: DOID:9002507
name: Lymphatic Malformation 12
def: "A disease characterized by abnormalities in the development and function of major truncal lymphatic vessels, causing nonimmune hydrops fetalis that results in stillbirth in some cases. Caused by homozygous or compound heterozygous mutation in the MDFIC gene on chromosome 7q31." [MIM:620014]
synonym: "LMPHM12" EXACT []
xref: MIM:620014
is_a: DOID:0050580 ! hereditary lymphedema
is_a: DOID:9008386 ! Hydrops Fetalis
created_by: mtutaj
creation_date: 2022-08-24T09:52:53Z

[Term]
id: DOID:9002508
name: Immunodeficiency 87 and Autoimmunity
def: "An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Caused by homozygous mutation in the DEF6 gene on chromosome 6p21. (OMIM)" []
synonym: "DEF6-RELATED CONDITION" EXACT []
synonym: "IMD87" EXACT []
xref: MIM:619573
is_a: DOID:417 ! autoimmune disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2021-10-27T16:55:05Z

[Term]
id: DOID:9002509
name: Kosaki Overgrowth Syndrome
def: "Characterized by tallness, with elongated lower segment, hands, and feet, with a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals also have hyperelastic and fragile skin, plus progressive neurologic deterioration. (OMIM)" []
synonym: "KOGS" EXACT []
synonym: "skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration" EXACT []
xref: MIM:616592
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: rgd
creation_date: 2017-05-01T00:00:00Z

[Term]
id: DOID:9002510
name: Focal Epilepsy with Speech Disorder and with or without Mental Retardation
synonym: "ADRESD" NARROW []
synonym: "APHASIA, ACQUIRED, WITH EPILEPSY LANDAU-KLEFFNER SYNDROME" NARROW []
synonym: "BECTS" NARROW []
synonym: "BENIGN EPILEPSY OF CHILDHOOD WITH CENTROTEMPORAL SPIKES" NARROW []
synonym: "CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME" NARROW []
synonym: "CSWS" NARROW []
synonym: "CSWSS" NARROW []
synonym: "DYSTONIA, INTELLECTUAL DISABILITY AND LANGUAGE IMPAIRMENT" NARROW []
synonym: "FESD" EXACT []
synonym: "focal epilepsy with speech disorder and with or without impaired intellectual development" EXACT []
synonym: "focal epilepsy with speech disorder with or without mental retardation" EXACT []
synonym: "LKS" NARROW []
synonym: "RESDAD" NARROW []
synonym: "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant" NARROW []
xref: MIM:245570
xref: NCI:C168598
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2234 ! focal epilepsy
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:9002511
name: Prolonged Bleeding Time, Brachydactyly, and Mental Retardation
xref: MESH:C564207
xref: RDO:0013246
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:9002512
name: Postherpetic Neuralgia
alt_id: RDO:0007582
def: "Pain in nerves, frequently involving facial SKIN, resulting from the activation the latent varicella-zoster virus (HERPESVIRUS 3, HUMAN). The two forms of the condition preceding the pain are HERPES ZOSTER OTICUS; and HERPES ZOSTER OPHTHALMICUS. Following the healing of the rashes and blisters, the pain sometimes persists." [MESH:D051474]
xref: MESH:D051474
is_a: DOID:9005968 ! Neuralgia

[Term]
id: DOID:9002513
name: Hypoproteinemia
def: "A condition in which total serum protein level is below the normal range. Hypoproteinemia can be caused by protein malabsorption in the gastrointestinal tract, EDEMA, or PROTEINURIA." [MESH:D007019]
synonym: "Hypoproteinemias" EXACT []
xref: MESH:D007019
is_a: DOID:620 ! blood protein disease

[Term]
id: DOID:9002514
name: Neointima
def: "The new and thickened layer of scar tissue that forms on a PROSTHESIS, or as a result of vessel injury especially following ANGIOPLASTY or stent placement." [MESH:D058426]
synonym: "Neointima Formation" EXACT []
synonym: "Neointimas" EXACT []
xref: MESH:D058426
is_a: DOID:9004611 ! Pathologic Processes
is_a: DOID:9005396 ! Intimal Hyperplasia

[Term]
id: DOID:9002515
name: Rheumatoid Nodule
alt_id: MIM:180350
def: "Subcutaneous nodules seen in 20-30% of rheumatoid arthritis patients. They may arise anywhere on the body, but are most frequently found over the bony prominences. The nodules are characterized histologically by dense areas of fibrinoid necrosis with basophilic streaks and granules, surrounded by a palisade of cells, mainly fibroblasts and histiocytes." [MESH:D012218]
synonym: "Rheumatoid Nodules" EXACT []
synonym: "Rheumatoid Noduloses" EXACT []
synonym: "Rheumatoid Nodulosis" EXACT []
xref: MESH:D012218
is_a: DOID:7148 ! rheumatoid arthritis

[Term]
id: DOID:9002516
name: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS
def: "This disease is an autosomal recessive complex neurologic disorder characterized by delay of gross motor milestones, particularly walking, associated with axial hypotonia and peripheral spasticity apparent from infancy or early childhood. Affected individuals often show transient opisthotonic posturing in infancy, and later show abnormal involuntary movements, including chorea, dystonia, and dyspraxia. The disorder is nonprogressive, and many patients may catch up developmentally in the second or third decades" [MIM:619653]
synonym: "NEDSTO" EXACT []
synonym: "Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus" EXACT []
xref: MIM:619653
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007428 ! Muscle Spasticity
created_by: slaulede
creation_date: 2022-02-11T17:48:42Z

[Term]
id: DOID:9002517
name: Early-Onset Sarcoidosis
alt_id: RDO:0012902
xref: MESH:C563714
is_a: DOID:11335 ! sarcoidosis

[Term]
id: DOID:9002518
name: Infectious Myxomatosis
def: "Diseases caused by MYXOMA VIRUS." [MESH:D009234]
synonym: "Infectious Myxomatoses" EXACT []
xref: EFO:0007327
xref: MESH:D009234
is_a: DOID:8729 ! milker's nodule
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9002519
name: Intestinal Polyposis with Multiple Exostoses
alt_id: MIM:175450
xref: MESH:C566776
is_a: DOID:206 ! hereditary multiple exostoses
is_a: DOID:9001030 ! Multiple Primary Neoplasms

[Term]
id: DOID:9002520
name: Acrorenal Mandibular Syndrome
alt_id: MIM:200980
synonym: "Acro-renal-uterine-mandibular syndrome" EXACT []
synonym: "Acrorenal-Uterine-Mandibular Syndrome" EXACT []
synonym: "Split hand and split foot with mandibular hypoplasia" EXACT []
xref: MESH:C535665
is_a: DOID:225 ! syndrome
is_a: DOID:9000066 ! Jaw Abnormalities
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:9002521
name: Left Ventricular Noncompaction 2
alt_id: RDO:0009323
synonym: "LVNC2" EXACT []
xref: MIM:609470
is_a: DOID:0060480 ! left ventricular noncompaction

[Term]
id: DOID:9002522
name: Embolism
def: "Blocking of a blood vessel by an embolus which can be a blood clot or other undissolved material in the blood stream." [MESH:D004617]
synonym: "Embolisms" EXACT []
synonym: "Embolus" EXACT []
xref: MESH:D004617
is_a: DOID:9001268 ! Embolism and Thrombosis

[Term]
id: DOID:9002523
name: Uterine Perforation
def: "A hole or break through the wall of the UTERUS, usually made by the placement of an instrument or INTRAUTERINE DEVICES." [MESH:D014595]
synonym: "Uterine Perforations" EXACT []
xref: MESH:D014595
xref: RDO:0006795
is_a: DOID:9003146 ! Uterine Rupture

[Term]
id: DOID:9002524
name: Asparagine Synthetase Deficiency
synonym: "ASNSD" EXACT []
synonym: "ASNS Deficiency" EXACT []
synonym: "ASNS-RELATED CONDITION" EXACT []
xref: MIM:615574
xref: NCI:C168586
is_a: DOID:10907 ! microcephaly
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9002525
name: Hereditary Eye Diseases
def: "Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder." [MESH:D015785]
synonym: "Hereditary Eye Disease" EXACT []
xref: MESH:D015785
is_a: DOID:5614 ! eye disease
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9002526
name: Febrile Ulceronecrotic Mucha-Habermann Disease
synonym: "Ulceronecrotic Mucha-Habermann disease" EXACT []
xref: MESH:C537077
is_a: DOID:8566 ! herpes simplex
is_a: DOID:9002354 ! Pityriasis Lichenoides

[Term]
id: DOID:9002527
name: Edinburgh Malformation Syndrome
alt_id: MIM:129850
xref: MESH:C563051
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome
is_a: DOID:9001276 ! Failure to Thrive
is_a: DOID:9001487 ! Facies
is_a: DOID:9004814 ! Chromosome Aberrations
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9002528
name: Deletion 6q16 q21
synonym: "Monosomy 6q16 q21" EXACT []
xref: MESH:C538207
xref: RDO:0004150
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9002529
name: Bacteroidaceae Infections
alt_id: RDO:0004970
def: "Infections with bacteria of the family BACTEROIDACEAE." [MESH:D016866]
synonym: "Bacteroidaceae Infection" EXACT []
synonym: "Bacteroidaceae infectious disease" EXACT []
synonym: "commensal Bacteroidaceae infectious disease" EXACT []
xref: EFO:1000872
xref: MESH:D016866
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9002530
name: pontocerebellar hypoplasia type 17
def: "A severe autosomal recessive developmental disorder characterized by neonatal hypotonia, severe feeding difficulties, and respiratory insufficiency. Caused by homozygous mutation in the PRDM13 gene on chromosome 6q16." [MIM:619909]
synonym: "PCH17" EXACT []
synonym: "PRDM13-RELATED CONDITION" BROAD []
xref: MIM:619909
is_a: DOID:0060264 ! pontocerebellar hypoplasia
created_by: mtutaj
creation_date: 2022-06-13T11:35:24Z

[Term]
id: DOID:9002531
name: Buschke-Lowenstein Tumor
def: "Exophytic tumor of the anogenital region associated with HPV infections. It becomes a large cauliflower-like, hyperkeratotic, verrucous mass that is locally destructive with little atypical cells. Histologically, tumor cells are broad rete peg structures that tend to invade deeper than CONDYLOMATA ACUMINATA." [MESH:D062688]
synonym: "Anogenital Type Verrucous Carcinoma" EXACT []
synonym: "Buschke Löwenstein Tumor" EXACT []
synonym: "Giant Condyloma Acuminatum" EXACT []
synonym: "Giant Condyloma Acuminatums" EXACT []
synonym: "Giant Condyloma of Buschke and Lowenstein" EXACT []
synonym: "Giant Condyloma of Buschke and Löwenstein" EXACT []
xref: MESH:D062688
is_a: DOID:11168 ! anogenital venereal wart
is_a: DOID:3737 ! verrucous carcinoma

[Term]
id: DOID:9002532
name: Neonatal Hyperbilirubinemia
def: "Accumulation of BILIRUBIN, a breakdown product of HEME PROTEINS, in the BLOOD during the first weeks of life. This may lead to NEONATAL JAUNDICE. The excess bilirubin may exist in the unconjugated (indirect) or the conjugated (direct) form. The condition may be self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) or pathological with toxic levels of bilirubin." [MESH:D051556]
synonym: "During Infancies, Hyperbilirubinemia" EXACT []
synonym: "Hyperbilirubinemia During Infancy" EXACT []
synonym: "Neonatal Direct Hyperbilirubinemia" EXACT []
synonym: "Neonatal Indirect Hyperbilirubinemia" EXACT []
xref: MESH:D051556
is_a: DOID:2741 ! bilirubin metabolic disorder
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9002533
name: Rectum Carcinoma
synonym: "rectal carcinoma" EXACT []
xref: EFO:0002915
xref: MONDO:0044937
xref: NCI:C134779
is_a: DOID:1993 ! rectum cancer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9002534
name: Acne Keloid
def: "A type of acneiform disorder in which secondary pyogenic infection in and around pilosebaceous structures ends in keloidal scarring. It manifests as persistent folliculitis of the back of the neck associated with occlusion of the follicular orifices. It is most often encountered in black or Asian men." [MESH:D000153]
synonym: "Acne Keloidalis" EXACT []
synonym: "Acne Keloids" EXACT []
synonym: "Dermatitis Papillaris Capillitii" EXACT []
synonym: "Dermatitis Papillaris Capillitius" EXACT []
synonym: "Folliculitis Keloidalis" EXACT []
synonym: "Folliculitis Keloidalis Nuchae" EXACT []
synonym: "Keloidal Acne" EXACT []
synonym: "Keloidal Acnes" EXACT []
synonym: "Lichen Keloidalis Nuchae" EXACT []
synonym: "Nuchal Keloid Acne" EXACT []
synonym: "Nuchal Keloid Acnes" EXACT []
xref: MESH:D000153
is_a: DOID:4409 ! folliculitis
is_a: DOID:9000058 ! Keloid
is_a: DOID:9001519 ! Acneiform Eruptions

[Term]
id: DOID:9002535
name: Cataract, Autosomal Recessive Congenital 1
xref: MESH:C565136
xref: RDO:0013863
is_a: DOID:83 ! cataract

[Term]
id: DOID:9002536
name: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME
def: "A neurologic disorder characterized in most cases by early-onset seizures and variably impaired intellectual development ." [MIM:618732]
synonym: "CSNK2B-RELATED INTELLECTUAL DISABILITY WITH OR WITHOUT EPILEPSY" EXACT []
synonym: "POBINDS" EXACT []
xref: MIM:618732
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2020-02-17T10:59:46Z

[Term]
id: DOID:9002537
name: Air Embolism
def: "Blocking of a blood vessel by air bubbles that enter the circulatory system, usually after TRAUMA; surgical procedures, or changes in atmospheric pressure." [MESH:D004618]
synonym: "Air Embolisms" EXACT []
synonym: "Gas Embolism" EXACT []
synonym: "Gas Embolisms" EXACT []
xref: MESH:D004618
is_a: DOID:9002522 ! Embolism

[Term]
id: DOID:9002538
name: Gay Feinmesser Cohen Syndrome
synonym: "Laryngeal web, congenital heart disease and low stature" EXACT []
synonym: "Subglottic bar, congenital heart disease and low stature" EXACT []
xref: MESH:C537676
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9002539
name: Glomus Tympanicum Tumor
def: "A rare PARAGANGLIOMA involving the GLOMUS TYMPANICUM, a collection of chemoreceptor tissue adjacent to the TYMPANIC CAVITY. It can cause TINNITUS and conductive hearing loss (HEARING LOSS, CONDUCTIVE)." [MESH:D043604]
synonym: "Glomus Tympanicum Tumors" EXACT []
xref: MESH:D043604
is_a: DOID:0050773 ! paraganglioma

[Term]
id: DOID:9002540
name: Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures
def: "An autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity." [MIM:617710]
synonym: "mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis and with or without seizures" EXACT []
synonym: "NEMMLAS" EXACT []
synonym: "NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES" EXACT []
synonym: "WARS2-RELATED CONDITION" BROAD []
synonym: "WARS2-RELATED DISORDER" BROAD []
xref: MIM:617710
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2017-12-06T00:00:00Z

[Term]
id: DOID:9002541
name: Isolated Microphthalmia with Cataract 1
alt_id: MIM:156850
synonym: "CATM" EXACT []
synonym: "congenital cataract with microphthalmia" EXACT []
synonym: "MCOPCT1" EXACT []
xref: MESH:C563582
is_a: DOID:0080637 ! isolated microphthalmia
is_a: DOID:83 ! cataract

[Term]
id: DOID:9002542
name: Hidrotic Ectodermal Dysplasia, Autosomal Recessive
alt_id: RDO:0014876
xref: MESH:C566553
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:9002543
name: Myopathy with Abnormal Lipid Metabolism
alt_id: MIM:255100
synonym: "FLAD1-RELATED CONDITION" EXACT []
synonym: "Lipid Storage Myopathy" EXACT []
synonym: "LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY" EXACT []
synonym: "LSMFLAD" EXACT []
xref: MESH:C562935
xref: RDO:0012437
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9002544
name: Chang Davidson Carlson Syndrome
alt_id: RDO:0004008
xref: MESH:C538075
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9002545
name: Odontochondrodysplasia 2 with Hearing Loss and Diabetes
synonym: "ODCD2" EXACT []
xref: MIM:619269
is_a: DOID:9003789 ! Odontochondrodysplasia
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9351 ! diabetes mellitus
created_by: mtutaj
creation_date: 2021-04-13T14:01:07Z

[Term]
id: DOID:9002546
name: Eosinophilic Granuloma
def: "The most benign and common form of Langerhans-cell histiocytosis which involves localized nodular lesions predominantly of the bones but also of the gastric mucosa, small intestine, lungs, or skin, with infiltration by EOSINOPHILS." [MESH:D004803]
synonym: "eosinophilic granulomas" EXACT []
xref: MESH:D004803
xref: NCI:C3016
is_a: DOID:0080001 ! bone disease
is_a: DOID:2571 ! Langerhans-cell histiocytosis
is_a: DOID:9001371 ! Eosinophilia
is_a: DOID:9002019 ! Granuloma

[Term]
id: DOID:9002547
name: Sitosterolemia 1
synonym: "ABCG8-RELATED CONDITION" BROAD []
synonym: "Mediterranean macrothrombocytopenia-stomatocytosis" NARROW []
synonym: "Mediterranean phytosterolemia macrothrombocytopenia/stomatocytosis" NARROW []
synonym: "STSL1" EXACT []
xref: MIM:210250
is_a: DOID:0090019 ! sitosterolemia
created_by: mtutaj
creation_date: 2019-11-20T11:33:45Z

[Term]
id: DOID:9002548
name: Lipoma of the Conjunctiva
alt_id: MIM:151700
xref: MESH:C563620
is_a: DOID:3315 ! lipoma
is_a: DOID:9008245 ! Conjunctival Neoplasms

[Term]
id: DOID:9002549
name: Shock
def: "A pathological condition manifested by failure to perfuse or oxygenate vital organs." [MESH:D012769]
synonym: "Circulatory Collapse" EXACT []
synonym: "Circulatory Failure" EXACT []
synonym: "Hypovolemic Shock" EXACT []
xref: MESH:D012769
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9002550
name: Bites and Stings
def: "Injuries inflicted by the TEETH or poisoning caused by VENOMS of animals." [MESH:D001733]
synonym: "Bite" EXACT []
synonym: "bites" EXACT []
synonym: "Sting" EXACT []
synonym: "stings" EXACT []
xref: MESH:D001733
is_a: DOID:9000046 ! Poisoning
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9002552
name: Cowden-Like Syndrome
alt_id: RDO:0015433
synonym: "COWDEN SYNDROME 2" EXACT []
synonym: "CWS2" EXACT []
xref: MESH:C567337
is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome
is_a: DOID:225 ! syndrome
is_a: DOID:6457 ! Cowden syndrome
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9002553
name: Anaplastic Plasmacytoma
synonym: "anaplastic skeletal plasmacytoma" EXACT []
synonym: "anaplastic solitary extramedullary plasmacytoma of the cecum" EXACT []
synonym: "extramedullary anaplastic plasmacytoma" EXACT []
xref: MESH:C537514
is_a: DOID:3721 ! plasmacytoma

[Term]
id: DOID:9002554
name: Tachycardia
def: "Abnormally rapid heartbeat, usually with a HEART RATE above 100 beats per minute for adults. Tachycardia accompanied by disturbance in the cardiac depolarization (cardiac arrhythmia) is called tachyarrhythmia." [MESH:D013610]
synonym: "Tachyarrhythmia" EXACT []
synonym: "Tachyarrhythmias" EXACT []
synonym: "Tachycardias" EXACT []
xref: MESH:D013610
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:9002555
name: Cardiac, Facial, and Digital Anomalies with Developmental Delay
synonym: "CAFDADD" EXACT []
synonym: "TRAF7-ASSOCIATED HEART DEFECT-DIGITAL ANOMALIES-FACIAL DYSMORPHISM-MOTOR AND SPEECH DELAY SYNDROME" EXACT []
synonym: "TRAF7-RELATED DEVELOPMENTAL DELAY, CONGENITAL ANOMALIES, AND DYSMORPHIC FEATURES" EXACT []
synonym: "TRAF7-RELATED DISORDER" EXACT []
synonym: "TRAF7-RELATED SYNDROME" EXACT []
xref: MIM:618164
xref: NCI:C179868
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2019-01-11T10:19:34Z

[Term]
id: DOID:9002556
name: villitis
def: "This is an Inflammatory process that involves the chorionic villi of the placenta." [EFO:0003110]
synonym: "inflammation of chorionic villi" EXACT []
synonym: "placental villitis" EXACT []
synonym: "villositis" EXACT []
xref: EFO:0003110
is_a: DOID:0050697 ! chorioamnionitis
created_by: slaulede
creation_date: 2022-10-18T13:18:38Z

[Term]
id: DOID:9002557
name: Inherited Blood Coagulation Disease
alt_id: DOID:2214
def: "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation." []
synonym: "hereditary blood coagulation disorders" EXACT []
synonym: "hereditary coagulation disorder" EXACT []
synonym: "hereditary coagulation disorders" EXACT []
synonym: "inherited blood coagulation diseases" EXACT []
synonym: "inherited blood coagulation disorders" EXACT []
synonym: "inherited coagulation disorder" EXACT []
synonym: "inherited coagulation disorders" EXACT []
xref: MESH:D025861
xref: MIM:PS277450
xref: ORDO:98429
is_a: DOID:1247 ! blood coagulation disease
created_by: mtutaj
creation_date: 2020-07-23T17:57:05Z

[Term]
id: DOID:9002558
name: Acute Intermittent Porphyria, Nonerythroid Variant
xref: MESH:C566769
is_a: DOID:3890 ! acute intermittent porphyria

[Term]
id: DOID:9002560
name: Penetrating Eye Injuries
def: "Deeply perforating or puncturing type intraocular injuries." [MESH:D015807]
synonym: "Penetrating Eye Injury" EXACT []
xref: EFO:1001323
xref: MESH:D015807
is_a: DOID:9000656 ! Penetrating Wounds
is_a: DOID:9006447 ! Eye Injuries

[Term]
id: DOID:9002561
name: Sandhaus Ben-Ami Syndrome
synonym: "Patella hypoplasia skeletal malformations" EXACT []
xref: MESH:C537233
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002562
name: Maccario Mena Weir Syndrome
alt_id: RDO:0003224
synonym: "neuroaxonal dystrophy, renal tubular acidosis" EXACT []
xref: MESH:C537386
is_a: DOID:14219 ! renal tubular acidosis
is_a: DOID:225 ! syndrome
is_a: DOID:2367 ! neuroaxonal dystrophy

[Term]
id: DOID:9002563
name: Gait Ataxia
def: "Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES." [MESH:D020234]
synonym: "Ataxia of Gait" EXACT []
synonym: "Cerebellar Gait" EXACT []
synonym: "Cerebellar Gait Ataxia" EXACT []
synonym: "Cerebellar Gait Ataxias" EXACT []
synonym: "Cerebellar Gaits" EXACT []
synonym: "Gait Ataxias" EXACT []
synonym: "Sensory Gait Ataxia" EXACT []
synonym: "Sensory Gait Ataxias" EXACT []
xref: MESH:D020234
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9006230 ! Neurologic Gait Disorders

[Term]
id: DOID:9002564
name: Arteritis
def: "INFLAMMATION of any ARTERIES." [MESH:D001167]
synonym: "Arterial Inflammation" EXACT []
synonym: "Arteritides" EXACT []
xref: EFO:0009011
xref: MESH:D001167
is_a: DOID:865 ! vasculitis

[Term]
id: DOID:9002565
name: Partial Epilepsy with Pericentral Spikes
alt_id: MIM:607221
synonym: "EPPS" EXACT []
synonym: "PEPS" EXACT []
xref: MESH:C564605
is_a: DOID:2234 ! focal epilepsy

[Term]
id: DOID:9002566
name: Gastric Reperfusion Injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the stomach, including swelling; hemorrhage; necrosis; and damage from free radicals." []
synonym: "gastric ischemia/reperfusion injury" EXACT []
synonym: "stomach ischemia/reperfusion injury" EXACT []
xref: RDO:9001728
is_a: DOID:9004009 ! Reperfusion Injury
is_a: DOID:9006653 ! Gastric Ischemia
created_by: rgd
creation_date: 2017-06-26T00:00:00Z

[Term]
id: DOID:9002568
name: Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1
synonym: "DMJDS1" EXACT []
synonym: "microcephaly, seizures, spasticity, and brain calcification" EXACT []
synonym: "MISSBC" EXACT []
xref: MIM:251280
is_a: DOID:10907 ! microcephaly
is_a: DOID:9002171 ! Diencephalic-Mesencephalic Junction Dysplasia Syndromes
created_by: mtutaj
creation_date: 2019-10-31T12:25:19Z

[Term]
id: DOID:9002569
name: Overweight
def: "A status with BODY WEIGHT that is above certain standard of acceptable or desirable weight. In the scale of BODY MASS INDEX, overweight is defined as having a BMI of 25.0-29.9 kg/m2. Overweight may or may not be due to increases in body fat (ADIPOSE TISSUE), hence overweight does not equal 'over fat'." [MESH:D050177]
xref: MESH:D050177
is_a: DOID:9007633 ! Body Weight

[Term]
id: DOID:9002570
name: Mirror Movements 1
synonym: "BIMANUAL SYNERGIA" EXACT []
synonym: "congenital mirror movements" EXACT []
synonym: "DEVELOPMENTAL SPLIT BRAIN SYNDROME" EXACT []
synonym: "MIRROR MOVEMENTS 1 AND/OR AGENESIS OF THE CORPUS CALLOSUM" EXACT []
synonym: "MRMV1" EXACT []
xref: MIM:157600
is_a: DOID:0111153 ! congenital mirror movement disorder
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9002571
name: Aicardi-Goutieres Syndrome 7
def: "An autosomal dominant inflammatory disorder characterized by severe neurologic impairment. (OMIM)" []
synonym: "AGS7" EXACT []
xref: MIM:615846
xref: NCI:C168585
is_a: DOID:0050629 ! Aicardi-Goutieres syndrome

[Term]
id: DOID:9002572
name: Meyenburg-Altherr-Uehlinger Syndrome
synonym: "Ashkenazi syndrome" EXACT []
synonym: "Atrophic polychondritis, cartilagenous arthritic deafness syndrome" EXACT []
synonym: "Jaksch' syndrome" EXACT []
synonym: "Jaksch Wartenhorst's syndrome" EXACT []
synonym: "Von Jaksch Wartenhorst's syndrome" EXACT []
xref: MESH:C537574
xref: RDO:0003438
is_a: DOID:225 ! syndrome
is_a: DOID:2556 ! relapsing polychondritis
is_a: DOID:848 ! arthritis
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9002573
name: Nerve Tissue Neoplasms
alt_id: RDO:0006101
def: "Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves." [MESH:D009380]
synonym: "Nerve Tissue Neoplasm" EXACT []
synonym: "Nervous Tissue Neoplasm" EXACT []
synonym: "Nervous Tissue Neoplasms" EXACT []
xref: MESH:D009380
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:9002574
name: Thrombocytopenia 3
alt_id: MIM:273900
synonym: "THC3" EXACT []
synonym: "Thrombocytopenia, Autosomal Recessive, 3" EXACT []
xref: MESH:C567487
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:9002575
name: Myeloperoxidase Deficiency
alt_id: MIM:254600
alt_id: OMIA:002028
synonym: "MPOD" EXACT []
synonym: "MPO deficiency" EXACT []
xref: MESH:C562864
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9002576
name: Egg-Shaped Pupil
alt_id: MIM:178800
xref: MESH:C566731
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9002577
name: Halo Nevus
alt_id: MIM:234300
def: "A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." [MESH:D055882]
synonym: "Halo Nevi" EXACT []
synonym: "Leukoderma Acquisitum Centrifugum of Sutton" EXACT []
xref: EFO:1000958
xref: MESH:D055882
is_a: DOID:9002969 ! Nevus

[Term]
id: DOID:9002578
name: Equine Encephalomyelitis
def: "A group of ALPHAVIRUS INFECTIONS which affect horses and man, transmitted via the bites of mosquitoes. Disorders in this category are endemic to regions of South America and North America. In humans, clinical manifestations vary with the type of infection, and range from a mild influenza-like syndrome to a fulminant encephalitis. (From Joynt, Clinical Neurology, 1996, Ch26, pp8-10)" [MESH:D004683]
synonym: "Equine Encephalitis" EXACT []
synonym: "Equine Encephalomyelitis Viral Infections" EXACT []
synonym: "Equine Encephalomyelitis Virus Infections" EXACT []
xref: MESH:D004683
is_a: DOID:640 ! encephalomyelitis
is_a: DOID:646 ! viral encephalitis
is_a: DOID:9007339 ! Alphavirus Infections
is_a: DOID:9007579 ! Arbovirus Infections

[Term]
id: DOID:9002579
name: Palmoplantar Keratoderma, Vorner Type
alt_id: RDO:0012079
synonym: "Epidermolytic Palmoplantar Keratoderma Vorner Type" EXACT []
xref: MESH:C567914
is_a: DOID:0080223 ! epidermolytic palmoplantar keratoderma

[Term]
id: DOID:9002580
name: Metatarsus Varus
def: "A foot anomaly in which the forefoot (METATARSUS) is angled inward relative to the heel." [MESH:D000070592]
synonym: "In Toeing" EXACT []
synonym: "Metatarsal Varus" EXACT []
synonym: "Metatarsus Adductovarus" EXACT []
synonym: "Metatarsus Adductus" EXACT []
synonym: "Pigeon Toed" EXACT []
xref: MESH:D000070592
xref: RDO:0016059
is_a: DOID:9003938 ! Foot Deformities

[Term]
id: DOID:9002581
name: Acrocephalopolydactylous Dysplasia
alt_id: MIM:200995
synonym: "Elejalde syndrome" EXACT []
xref: MESH:C573722
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002582
name: Primary Autosomal Recessive Microcephaly 23
synonym: "MCPH23" EXACT []
xref: MIM:617985
is_a: DOID:0070296 ! primary autosomal recessive microcephaly
created_by: slaulede
creation_date: 2018-06-19T13:27:53Z

[Term]
id: DOID:9002583
name: Camptobrachydactyly
alt_id: MIM:114150
synonym: "Short foot-brachydactyly of toes, camptodactyly , brachydactyly" EXACT []
xref: MESH:C537967
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9002584
name: Benign Essential Blepharospasm
alt_id: MIM:606798
synonym: "Essential Blepharospasm" EXACT []
synonym: "Eyelid Twitching" EXACT []
synonym: "Primary Blepharospasm" EXACT []
synonym: "Spasm of Eyelids" EXACT []
xref: MESH:C535428
xref: RDO:0000534
is_a: DOID:529 ! blepharospasm

[Term]
id: DOID:9002585
name: Opticocochleodentate Degeneration
alt_id: MIM:258700
xref: MESH:C563002
is_a: DOID:12835 ! quadriplegia
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9007428 ! Muscle Spasticity
is_a: DOID:9008681 ! Deafness
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:9002586
name: Postcataract Aphakia
alt_id: RDO:0004886
def: "Absence of the crystalline lens resulting from cataract extraction." [MESH:D001036]
synonym: "Postcataract Aphakias" EXACT []
xref: MESH:D001036
is_a: DOID:9008804 ! Aphakia

[Term]
id: DOID:9002587
name: Silver-Russell Syndrome 4
def: "Silver-Russell syndrome caused by heterozygous mutation in the PLAG1 gene on chromosome 8q12." [MIM:618907 "RGD"]
synonym: "PLAG1-RELATED CONDITION" BROAD []
synonym: "SRS4" EXACT []
xref: MIM:618907
is_a: DOID:14681 ! Silver-Russell syndrome
created_by: mtutaj
creation_date: 2020-06-15T13:55:11Z

[Term]
id: DOID:9002588
name: Cardiac Septal Defects with Coarctation of the Aorta
alt_id: MIM:212090
xref: MESH:C565883
is_a: DOID:1681 ! heart septal defect
is_a: DOID:9007908 ! Aortic Coarctation

[Term]
id: DOID:9002589
name: Bone Fractures
def: "Breaks in bones." [MESH:D050723]
synonym: "Bone Fracture" EXACT []
synonym: "Broken Bone" EXACT []
synonym: "Broken Bones" EXACT []
synonym: "foot fracture" NARROW []
synonym: "fracture of pelvis" NARROW []
synonym: "Recurrent fractures" NARROW []
synonym: "Spiral Fracture" NARROW []
synonym: "Spiral Fractures" NARROW []
synonym: "Torsion Fracture" NARROW []
synonym: "Torsion Fractures" NARROW []
xref: EFO:0003931
xref: EFO:0009618
xref: EFO:0009622
xref: MESH:D050723
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9002590
name: Porencephaly Cerebellar Hypoplasia Malformations
alt_id: MIM:601322
synonym: "Porencephaly, cerebellar hypoplasia, and internal malformations" EXACT []
xref: MESH:C536336
is_a: DOID:0060263 ! porencephaly
is_a: DOID:2786 ! cerebellar disease

[Term]
id: DOID:9002591
name: Splenosis
def: "The spontaneous transplantation of splenic tissue to unusual sites after open splenic trauma, e.g., after automobile accidents, gunshot or stab wounds. The splenic pulp implants appear as red-blue nodules on the peritoneum, omentum, and mesentery, morphologically similar to multifocal pelvic endometriosis. (Segen, Dictionary of Modern Medicine, 1992)" [MESH:D017890]
synonym: "Splenoses" EXACT []
xref: MESH:D017890
is_a: DOID:9008835 ! Splenic Rupture

[Term]
id: DOID:9002592
name: refractory celiac disease
def: "This is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet." [https://rarediseases.org/rare-diseases/refractory-celiac-disease/]
synonym: "intractable celiac sprue" EXACT []
synonym: "refractory CD" EXACT []
synonym: "refractory celiac disease" EXACT []
synonym: "type II refractory sprue" NARROW []
synonym: "type I refractory sprue" NARROW []
synonym: "unresponsive celiac disease" EXACT []
xref: EFO:0009266
is_a: DOID:10608 ! celiac disease
created_by: slaulede
creation_date: 2022-10-21T18:24:17Z

[Term]
id: DOID:9002593
name: Lethal Congenital Contracture Syndrome 8
def: "An axoglial form of arthrogryposis multiplex congenita, that is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. (OMIM)" []
synonym: "LCCS8" EXACT []
xref: MIM:616287
is_a: DOID:0060558 ! lethal congenital contracture syndrome

[Term]
id: DOID:9002594
name: High Hyperopia
alt_id: MIM:238950
xref: MESH:C565497
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9834 ! hyperopia

[Term]
id: DOID:9002595
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
def: "This disease is characterized by global developmental delay apparent since infancy or early childhood, hypotonia with delayed motor development, impaired intellectual development with significant speech delay or absent speech, and variable behavioral abnormalities, such as autism, repetitive actions, or aggression." [MIM:619854]
synonym: "NEDHISB" EXACT []
xref: MIM:619854
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:92 ! speech disorder
created_by: slaulede
creation_date: 2022-06-30T10:55:48Z

[Term]
id: DOID:9002596
name: Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly
synonym: "NBAS-RELATED CONDITION" BROAD []
synonym: "SOPH" EXACT []
xref: MIM:614800
xref: RDO:9001073
is_a: DOID:1891 ! optic nerve disease
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9631 ! Pelger-Huet anomaly

[Term]
id: DOID:9002597
name: 2-Methylacetoacetyl CoA Thiolase Deficiency
xref: MESH:C535307
xref: RDO:0000347
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9002598
name: Spastic Paraparesis
def: "Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways." [MESH:D020336]
synonym: "PROGRESSIVE SPASTIC PARAPARESIS" NARROW []
synonym: "Spastic Lower Extremity Weakness" EXACT []
synonym: "Spastic Parapareses" EXACT []
xref: MESH:D020336
is_a: DOID:9008173 ! Paraparesis

[Term]
id: DOID:9002599
name: Basal Ganglia Hemorrhage
def: "Bleeding within the subcortical regions of cerebral hemispheres (BASAL GANGLIA). It is often associated with HYPERTENSION or ARTERIOVENOUS MALFORMATIONS. Clinical manifestations may include HEADACHE; DYSKINESIAS; and HEMIPARESIS." [MESH:D020145]
synonym: "Basal Ganglionic Hemorrhage" EXACT []
synonym: "Hematoma, Basal Ganglia" EXACT []
xref: MESH:D020145
xref: RDO:0007316
is_a: DOID:10991 ! basal ganglia cerebrovascular disease
is_a: DOID:9002676 ! Cerebral Hemorrhage

[Term]
id: DOID:9002600
name: Hydrocephalus with Cerebellar Agenesis
alt_id: MIM:307010
xref: MESH:C564407
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10908 ! hydrocephalus

[Term]
id: DOID:9002601
name: Otofaciocervical Syndrome 1
alt_id: MIM:166780
synonym: "OFC" EXACT []
synonym: "OFC1" EXACT []
synonym: "Ofc Syndrome" EXACT []
synonym: "OTFCS" EXACT []
synonym: "otofaciocervical syndrome" EXACT []
synonym: "otofaciocervical syndrome 1" EXACT []
xref: MESH:C563481
is_a: DOID:14702 ! branchiootorenal syndrome

[Term]
id: DOID:9002602
name: Chromosome 13p Duplication
synonym: "Chromosome 13p, trisomy" EXACT []
synonym: "Duplication 13p" EXACT []
synonym: "Trisomy 13p" EXACT []
xref: MESH:C535450
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9002603
name: Terminal Transverse Defects of Arm
xref: MESH:C565681
is_a: DOID:9004402 ! Congenital Upper Extremity Deformities
is_a: DOID:9005644 ! Amniotic Band Syndrome

[Term]
id: DOID:9002604
name: Reducing Body Myopathies
synonym: "reducing body myopathy" EXACT []
xref: GARD:12162
is_a: DOID:423 ! myopathy
created_by: mtutaj
creation_date: 2020-06-18T19:29:47Z

[Term]
id: DOID:9002605
name: Delayed Hypersensitivity
alt_id: RDO:0002568
def: "An increased reactivity to specific antigens mediated not by antibodies but by cells." [MESH:D006968]
synonym: "Delayed Hypersensitivities" EXACT []
synonym: "REDUCED DELAYED HYPERSENSITIVITY" NARROW []
synonym: "Tuberculin-Type Hypersensitivities" EXACT []
synonym: "Tuberculin Type Hypersensitivity" EXACT []
synonym: "Type IV Hypersensitivities" EXACT []
synonym: "Type IV Hypersensitivity" EXACT []
xref: MESH:D006968
is_a: DOID:1205 ! allergic disease

[Term]
id: DOID:9002606
name: Mycotoxicosis
def: "Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin)." [MESH:D015651]
synonym: "Fungus Poisoning" EXACT []
synonym: "Fungus Poisonings" EXACT []
synonym: "Mycotoxicoses" EXACT []
xref: MESH:D015651
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:9002607
name: Serotonin Syndrome
def: "An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor." [MESH:D020230]
synonym: "Serotonin Syndromes" EXACT []
xref: EFO:1001842
xref: MESH:D020230
is_a: DOID:225 ! syndrome
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions

[Term]
id: DOID:9002608
name: Spinal Curvatures
def: "Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS)." [MESH:D013121]
synonym: "Spinal Curvature" EXACT []
xref: MESH:D013121
is_a: DOID:0060564 ! spinal disease
is_a: DOID:0080010 ! bone structure disease

[Term]
id: DOID:9002609
name: Autosomal Dominant Nonsyndromic Deafness 85
def: "Nonsyndromic progressive sensorineural hearing loss, with onset in childhood or young adulthood. Caused by heterozygous mutation in the USP48 gene on chromosome 1p36." [MIM:620227]
synonym: "Deafness, autosomal dominant 85" EXACT []
synonym: "DFNA85" EXACT []
xref: MIM:620227
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2023-01-30T10:11:14Z

[Term]
id: DOID:9002610
name: Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type
xref: MESH:C563527
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:9002612
name: Pelvic Dysplasia Arthrogryposis of Lower Limbs
alt_id: MIM:602484
synonym: "Pelvic hypoplasia with arthrogryposis of lower limbs" EXACT []
synonym: "Pelvic hypoplasia with lower limb arthrogryposis" EXACT []
xref: MESH:C535548
is_a: DOID:0080954 ! arthrogryposis multiplex congenita

[Term]
id: DOID:9002613
name: Al Gazali Khidr Prem Chandran Syndrome
synonym: "Cherubism, optic atrophy and short stature" EXACT []
xref: MESH:C535616
is_a: DOID:1856 ! cherubism
is_a: DOID:225 ! syndrome
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9002614
name: Acute Lymphoblastic Leukemia, with Lymphomatous Features
alt_id: MIM:247640
alt_id: RDO:0014067
synonym: "LALL" EXACT []
synonym: "Lymphomatous ALL" EXACT []
xref: MESH:C565429
is_a: DOID:9952 ! acute lymphoblastic leukemia

[Term]
id: DOID:9002615
name: Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome
alt_id: MIM:607658
synonym: "HOPP syndrome" EXACT []
xref: MESH:C564357
is_a: DOID:225 ! syndrome
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:824 ! periodontitis
is_a: DOID:9006081 ! Osteolysis

[Term]
id: DOID:9002616
name: Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2
def: "An autosomal recessive syndromic disorder characterized by onset of this constellation of features in infancy, resulting in death in early childhood. Caused by homozygous mutation in the NOP10 gene on chromosome 15q14." [MIM:620425]
synonym: "CHINE2" EXACT []
xref: MIM:620425
is_a: DOID:9007299 ! Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis
created_by: mtutaj
creation_date: 2023-07-07T12:30:10Z

[Term]
id: DOID:9002617
name: Brachytelephalangy Characteristic Facies Kallmann
alt_id: MIM:113480
synonym: "Brachytelephalangy with Characteristic Facies and Kallmann Syndrome" EXACT []
synonym: "Characteristic craniofacial appearance and brachytelephalangy" EXACT []
xref: MESH:C537101
is_a: DOID:3614 ! Kallmann syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9002618
name: Familial Neurocardiogenic Syncope
alt_id: MIM:609289
synonym: "Familial vasovagal syncope" EXACT []
synonym: "VVS" EXACT []
xref: MESH:C536849
is_a: DOID:9008830 ! Vasovagal Syncope

[Term]
id: DOID:9002619
name: Complicated X-Linked Ichthyosis
alt_id: RDO:0015510
xref: MESH:C567443
is_a: DOID:1700 ! X-linked ichthyosis

[Term]
id: DOID:9002620
name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
def: "In this syndrome short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. (OMIM)" []
synonym: "SSMED" EXACT []
synonym: "XRCC4-RELATED CONDITION" EXACT []
xref: MIM:616541
xref: RDO:9001550
is_a: DOID:10907 ! microcephaly
is_a: DOID:28 ! endocrine system disease
is_a: DOID:9007661 ! Dwarfism
created_by: rgd
creation_date: 2017-04-06T00:00:00Z

[Term]
id: DOID:9002622
name: Shellfish Poisoning
def: "Poisoning from toxins present in bivalve mollusks that have been ingested. Four distinct types of shellfish poisoning are recognized based on the toxin involved." [MESH:D057096]
synonym: "Amnesic Shellfish Poisoning" EXACT []
synonym: "Amnesic Shellfish Poisonings" EXACT []
synonym: "Diarrhetic Shellfish Poisoning" EXACT []
synonym: "Diarrhetic Shellfish Poisonings" EXACT []
synonym: "Neurotoxic Shellfish Poisoning" EXACT []
synonym: "Neurotoxic Shellfish Poisonings" EXACT []
synonym: "Paralytic Shellfish Poisoning" EXACT []
synonym: "Paralytic Shellfish Poisonings" EXACT []
synonym: "Shellfish Poisonings" EXACT []
xref: MESH:D057096
is_a: DOID:9006436 ! Foodborne Diseases

[Term]
id: DOID:9002623
name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE
def: "This disease is an X-linked disorder with variable onset and manifestations. Features of atypical hemolytic uremic syndrome (aHUS) include acute renal dysfunction with proteinuria, thrombotic microangiopathy, anemia, thrombocytopenia, increased serum lactate dehydrogenase (LDH), and schistocytes on peripheral blood smear. Affected individuals also have short stature with short limbs. Treatment with C5 inhibitors results in improvement of renal function." [MIM:301110]
synonym: "AHUS8" EXACT []
synonym: "atypical hemolytic uremic syndrome-8 with rhizomelic short stature" EXACT []
xref: MIM:301110
is_a: DOID:0080301 ! atypical hemolytic-uremic syndrome
created_by: slaulede
creation_date: 2023-08-25T08:40:22Z

[Term]
id: DOID:9002624
name: Aerobic Actinomyces Infection
xref: GARD:9779
xref: MESH:C538054
is_a: DOID:8478 ! actinomycosis

[Term]
id: DOID:9002625
name: Complement Component 4, Partial Deficiency Of
alt_id: MIM:120790
synonym: "partial deficiency of complement component 4 due to dysfunctional c1 inhibitor" EXACT []
xref: MESH:C565168
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:9002626
name: Progressive Familial Intrahepatic Cholestasis 8
def: "An autosomal recessive disorder characterized by cholestasis and high gamma-glutamyltransferse presenting in the infantile period. Caused by homozygous or compound heterozygous mutation in the KIF12 gene on chromosome 9q32." [MIM:619662]
synonym: "PFIC8" EXACT []
xref: MIM:619662
is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis
created_by: mtutaj
creation_date: 2021-12-22T09:33:37Z

[Term]
id: DOID:9002627
name: Familial Isolated Hypoparathyroidism 2
synonym: "FIH2" EXACT []
xref: MIM:618883
is_a: DOID:0111387 ! familial isolated hypoparathyroidism
created_by: mtutaj
creation_date: 2020-05-15T11:18:42Z

[Term]
id: DOID:9002628
name: Complete Absence of Bile and Pancreatic Ducts
alt_id: MIM:608063
xref: MESH:C564298
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9002629
name: Cubital Tunnel Syndrome
def: "Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" [MESH:D020430]
synonym: "Cubital Tunnel Syndromes" EXACT []
synonym: "Ulnar Nerve Compression, Cubital Tunnel" EXACT []
synonym: "Ulnar Nerve Entrapment, Elbow" EXACT []
xref: EFO:1001301
xref: MESH:D020430
xref: RDO:0007410
is_a: DOID:225 ! syndrome
is_a: DOID:4613 ! ulnar neuropathy
is_a: DOID:9007100 ! Ulnar Nerve Compression Syndromes

[Term]
id: DOID:9002630
name: Epidermolysis Bullosa, Lethal Acantholytic
alt_id: MIM:609638
synonym: "EBLA" EXACT []
synonym: "LAEB" EXACT []
xref: MESH:C535493
is_a: DOID:2730 ! epidermolysis bullosa

[Term]
id: DOID:9002631
name: Vitelliform Macular Dystrophy 1
alt_id: MIM:153840
synonym: "atypical vitelliform macular dystrophy" EXACT []
synonym: "VMD1" EXACT []
xref: MESH:C537832
is_a: DOID:0050661 ! vitelliform macular dystrophy

[Term]
id: DOID:9002633
name: Premature Obstetric Labor
def: "Onset of OBSTETRIC LABOR before term (TERM BIRTH) but usually after the FETUS has become viable. In humans, it occurs sometime during the 29th through 38th week of PREGNANCY. TOCOLYSIS inhibits premature labor and can prevent the BIRTH of premature infants (INFANT, PREMATURE)." [MESH:D007752]
synonym: "Premature Labor" EXACT []
synonym: "Preterm Labor" EXACT []
xref: MESH:D007752
is_a: DOID:9000610 ! Obstetric Labor Complications

[Term]
id: DOID:9002634
name: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME
def: "This disease is an autosomal recessive disorder characterized by global developmental delay with impaired intellectual development apparent from infancy." [MIM:619877]
synonym: "DENNED" EXACT []
xref: MIM:619877
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2022-06-13T15:16:29Z

[Term]
id: DOID:9002635
name: Brachymesomelia Renal Syndrome
alt_id: MIM:113470
synonym: "Langer Nishino Yamaguchi syndrome" EXACT []
xref: MESH:C537096
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9002637
name: Splenoportal Vascular Anomalies
alt_id: MIM:271500
xref: MESH:C562761
is_a: DOID:9003191 ! Vascular Malformations

[Term]
id: DOID:9002638
name: Poor Metabolism of Proguanil
xref: MESH:C563704
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9002639
name: Woods Black Norbury Syndrome
alt_id: MIM:300076
synonym: "Immunoneurologic Disorder, X-Linked" EXACT []
synonym: "Neonatal death immune deficiency" EXACT []
synonym: "X-linked immunoneurological disorder" EXACT []
xref: MESH:C536743
is_a: DOID:225 ! syndrome
is_a: DOID:628 ! combined T cell and B cell immunodeficiency

[Term]
id: DOID:9002640
name: CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME
alt_id: MONDO:0015405
def: "This is a group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions." [ORPHA:141189]
synonym: "CAMS" EXACT []
is_a: DOID:0060688 ! arteriovenous malformations of the brain
is_a: DOID:225 ! syndrome
created_by: slaulede
creation_date: 2023-06-06T08:49:45Z

[Term]
id: DOID:9002641
name: Bone Marrow Neoplasms
alt_id: RDO:0007250
def: "Neoplasms located in the bone marrow. They are differentiated from neoplasms composed of bone marrow cells, such as MULTIPLE MYELOMA. Most bone marrow neoplasms are metastatic." [MESH:D019046]
synonym: "bone marrow neoplasm" EXACT []
synonym: "bone marrow tumor" EXACT [NCI2004_11_17:C35370]
xref: MESH:D019046
is_a: DOID:4961 ! bone marrow disease
is_a: DOID:9006532 ! Hematologic Neoplasms

[Term]
id: DOID:9002642
name: Isolated Microphthalmia with Coloboma
xref: MIM:PS300345
is_a: DOID:0080637 ! isolated microphthalmia
is_a: DOID:12270 ! coloboma
created_by: mtutaj
creation_date: 2019-03-20T00:00:00Z

[Term]
id: DOID:9002643
name: Long QT Syndrome 3/6
synonym: "LONG QT SYNDROME 3/6, DIGENIC" EXACT []
synonym: "LQT3/6, DIGENIC" EXACT []
xref: MESH:C566334
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:9002644
name: Premature Aging
alt_id: RDO:0007285
def: "Changes in the organism associated with senescence, occurring at an accelerated rate." [MESH:D019588]
xref: MESH:D019588
is_a: DOID:9000071 ! Signs and Symptoms
is_a: DOID:9007801 ! Diseases of the Aged

[Term]
id: DOID:9002645
name: Paroxysmal Exertion-Induced Dyskinesia and Hemolytic Anemia
xref: MESH:C567412
xref: RDO:0015490
is_a: DOID:583 ! hemolytic anemia
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9002646
name: Auriculocondylar Syndrome 3
synonym: "ARCND3" EXACT []
xref: MIM:615706
is_a: DOID:9000208 ! Auriculocondylar Syndrome

[Term]
id: DOID:9002647
name: Megalencephaly - Cutis Marmorata Telangiectatica Congenita
alt_id: MIM:602501
synonym: "Macrocephaly-Capillary Malformation" EXACT []
synonym: "Macrocephaly cutis marmorata telangiectatica congenita" EXACT []
synonym: "MCAP" EXACT []
synonym: "MCM" EXACT []
synonym: "MCMTC" EXACT []
synonym: "megalencephaly-capillary malformation-polymicrogyria syndrome" EXACT []
synonym: "megalocephaly - cutis marmorata telangiectatica congenita" EXACT []
synonym: "PIK3CA-related overgrowth spectrum" EXACT []
synonym: "VASCULAR MALFORMATIONS AND OVERGROWTH" EXACT []
xref: EFO:0009146
xref: MESH:C536142
is_a: DOID:1272 ! telangiectasis
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:9002649
name: Acrodysostosis 2, with or without Hormone Resistance
synonym: "ACRDYS2" EXACT []
synonym: "PDE4D-RELATED CONDITION" EXACT []
xref: MIM:614613
is_a: DOID:14669 ! acrodysostosis

[Term]
id: DOID:9002650
name: Sebaceous Nevus Syndrome and Hemimegalencephaly
xref: MESH:C563339
is_a: DOID:0111530 ! linear nevus sebaceous syndrome
is_a: DOID:9008237 ! Hemimegalencephaly

[Term]
id: DOID:9002651
name: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT
def: "An autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, usually apparent from infancy." [MIM:618806]
synonym: "autosomal dominant infantile T-cell lymphopenia with or without nail dystrophy" EXACT []
synonym: "TLIND" EXACT []
xref: MIM:618806
is_a: DOID:4123 ! nail disease
is_a: DOID:9008671 ! T-Lymphocytopenia
created_by: slaulede
creation_date: 2020-08-20T15:51:45Z

[Term]
id: DOID:9002652
name: Alpha-Thalassemia 2
synonym: "Alpha+ Thalassemia" RELATED []
synonym: "Alpha+ Thalassemia, NOS" RELATED []
synonym: "Alpha plus thalassemia" EXACT []
synonym: "Alpha-thalassemia, dutch type" NARROW []
synonym: "HEMOGLOBIN EVANSTON" RELATED []
synonym: "HEMOGLOBIN RIO CLARO" RELATED []
synonym: "HEMOGLOBIN ZURICH ALBISRIEDEN" RELATED []
is_a: DOID:1099 ! alpha thalassemia
created_by: rgd
creation_date: 2016-04-12T00:00:00Z

[Term]
id: DOID:9002653
name: Avulavirus Infections
def: "Infections with viruses of the genus AVULAVIRUS, family PARAMYXOVIRIDAE. This includes NEWCASTLE DISEASE and other infections of domestic fowl." [MESH:D045463]
synonym: "Avulavirus Infection" EXACT []
xref: EFO:0007161
xref: MESH:D045463
xref: MONDO:0005660
is_a: DOID:9007244 ! Paramyxoviridae Infections

[Term]
id: DOID:9002654
name: Intraabdominal Infections
def: "Infection within the PERITONEAL CAVITY. A frequent cause is an ANASTOMOTIC LEAK following surgery." [MESH:D059413]
synonym: "Intra-Abdominal Infection" EXACT []
synonym: "Intraabdominal Infection" EXACT []
synonym: "Intra Abdominal Infections" EXACT []
xref: MESH:D059413
is_a: DOID:0050117 ! disease by infectious agent

[Term]
id: DOID:9002655
name: Hyperkinetic Conduct Disorder
synonym: "HD & CD" EXACT []
synonym: "hyperkinetic disorder and conduct disorder" EXACT []
xref: RDO:9002120
is_a: DOID:1094 ! attention deficit hyperactivity disorder
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:9002656
name: Attention Deficit-Hyperactivity Disorder 7
synonym: "ADHD7" EXACT []
synonym: "attention deficit-hyperactivity disorder, susceptibility to, 7" RELATED []
xref: MIM:613003
is_a: DOID:1094 ! attention deficit hyperactivity disorder
created_by: mtutaj
creation_date: 2022-07-18T11:40:00Z

[Term]
id: DOID:9002657
name: Malocclusion and Short Stature
alt_id: MIM:248350
xref: MESH:C565421
is_a: DOID:9000121 ! Malocclusion
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9002658
name: Trisomy 20p
synonym: "Chromosome 20, duplication 20p" EXACT []
synonym: "Duplication 20p" EXACT []
xref: MESH:C535371
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9002659
name: Selig Benacerraf Greene Syndrome
synonym: "Renal dysplasia, megalocystis, and sirenomelia" EXACT []
xref: MESH:C535840
is_a: DOID:12577 ! urethral obstruction
is_a: DOID:225 ! syndrome
is_a: DOID:557 ! kidney disease
is_a: DOID:9000545 ! Ectromelia

[Term]
id: DOID:9002660
name: Alert Fatigue, Health Personnel
def: "Mental fatigue experienced by health care providers who encounter numerous alerts and reminders from the use of CLINICAL DECISION SUPPORT SYSTEMS. As the numbers of alerts and reminders designed to provide meaningful assistance to the patient care process increases, many health personnel may ignore them." [MESH:D000071064]
xref: MESH:D000071064
is_a: DOID:9000601 ! Mental Fatigue

[Term]
id: DOID:9002661
name: Diabetes Complications
def: "Conditions or pathological processes associated with the disease of diabetes mellitus. Due to the impaired control of BLOOD GLUCOSE level in diabetic patients, pathological processes develop in numerous tissues and organs including the EYE, the KIDNEY, the BLOOD VESSELS, and the NERVE TISSUE." [MESH:D048909]
synonym: "Complications of Diabetes Mellitus" EXACT []
synonym: "Diabetes Complication" EXACT []
synonym: "Diabetes Mellitus Complication" EXACT []
synonym: "Diabetes Mellitus Complications" EXACT []
synonym: "Diabetes-Related Complication" EXACT []
synonym: "Diabetes Related Complications" EXACT []
synonym: "Diabetic Complication" EXACT []
synonym: "Diabetic Complications" EXACT []
xref: MESH:D048909
xref: RDO:0001421
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9002662
name: Curatolo Cilio Pessagno Syndrome
synonym: "White matter hypoplasia, corpus callosum agenesia, and mental retardation" EXACT []
xref: MESH:C536701
xref: RDO:0002357
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9002663
name: Familial Cancer with In Vitro Radioresistance
alt_id: MIM:114450
alt_id: RDO:0014615
xref: MESH:C566179
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:9002664
name: Microcephaly Seizures Mental Retardation Heart Disorders
synonym: "Microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities" EXACT []
xref: MESH:C537544
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002665
name: Bruck Syndrome 2
synonym: "BRKS2" EXACT []
synonym: "PLOD2-RELATED CONDITION" EXACT []
xref: MESH:C537407
xref: MIM:609220
xref: MONDO:0012217
is_a: DOID:0060231 ! Bruck syndrome

[Term]
id: DOID:9002666
name: Hypogonadotropic Hypogonadism 26 with or without Anosmia
def: "Characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Caused by heterozygous mutation in the TCF12 gene on chromosome 15q21." [MIM:619718]
synonym: "HH26" EXACT []
synonym: "HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA" NARROW []
xref: MIM:619718
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
created_by: mtutaj
creation_date: 2022-01-27T10:03:56Z

[Term]
id: DOID:9002667
name: Lysine Malabsorption Syndrome
alt_id: MIM:247950
xref: MESH:C563080
is_a: DOID:9002984 ! Malabsorption Syndromes
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9002668
name: Liver Abscess
def: "Solitary or multiple collections of PUS within the liver as a result of infection by bacteria, protozoa, or other agents." [MESH:D008100]
synonym: "Hepatic Abscess" EXACT []
synonym: "Hepatic Abscesses" EXACT []
synonym: "Liver Abscesses" EXACT []
xref: MESH:D008100
is_a: DOID:409 ! liver disease
is_a: DOID:9008115 ! Abdominal Abscess

[Term]
id: DOID:9002669
name: Hypoxia
def: "Sub-optimal OXYGEN levels in the ambient air of living organisms." [MESH:D000860]
synonym: "Anoxia" RELATED []
synonym: "Oxygen Deficiencies" EXACT []
synonym: "Oxygen Deficiency" EXACT []
xref: EFO:0009444
xref: MESH:D000860
is_a: DOID:9000575 ! Respiratory Signs and Symptoms

[Term]
id: DOID:9002670
name: HTLV-I Infections
alt_id: RDO:0006891
def: "Diseases caused by HUMAN T-LYMPHOTROPIC VIRUS 1." [MESH:D015490]
synonym: "HTLV-I Infection" EXACT []
synonym: "Human T-lymphotropic virus 1 infectious disease" EXACT []
xref: EFO:0007316
xref: MESH:D015490
is_a: DOID:9001509 ! Deltaretrovirus Infections

[Term]
id: DOID:9002673
name: Marek Disease
def: "A transmissible viral disease of birds caused by avian herpesvirus 2 (HERPESVIRUS 2, GALLID) and other MARDIVIRUS. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye." [MESH:D008380]
synonym: "Fowl Paralyses" EXACT []
synonym: "Fowl Paralysis" EXACT []
synonym: "Marek's Disease" EXACT []
synonym: "Mareks Disease" EXACT []
synonym: "Neurolymphomatoses" EXACT []
synonym: "Neurolymphomatosis" EXACT []
xref: MESH:D008380
xref: NCI:C84884
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:9002834 ! Herpesviridae Infections
is_a: DOID:9004886 ! Tumor Virus Infections
is_a: DOID:9006114 ! Bird Diseases

[Term]
id: DOID:9002674
name: Laryngeal Granuloma
def: "A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX." [MESH:D006102]
synonym: "Granuloma of Larynx" EXACT []
synonym: "Laryngeal Granulomas" EXACT []
synonym: "Larynx Granuloma" EXACT []
synonym: "Larynx Granulomas" EXACT []
xref: MESH:D006102
is_a: DOID:11162 ! respiratory failure
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9002287 ! Respiratory Tract Granuloma

[Term]
id: DOID:9002675
name: Hereditary Renal Cancer Associated 1
synonym: "Renal Carcinoma, Familial, Associated 1" EXACT []
xref: MESH:C564169
xref: RDO:0013216
is_a: DOID:9002265 ! Kidney Neoplasms

[Term]
id: DOID:9002676
name: Cerebral Hemorrhage
def: "Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA." [MESH:D002543]
synonym: "Cerebral Brain Hemorrhage" EXACT []
synonym: "Cerebral Brain Hemorrhages" EXACT []
synonym: "Cerebral Hemorrhages" EXACT []
synonym: "Cerebral Parenchymal Hemorrhage" EXACT []
synonym: "Cerebral Parenchymal Hemorrhages" EXACT []
synonym: "Cerebrum Hemorrhage" EXACT []
synonym: "Cerebrum Hemorrhages" EXACT []
synonym: "COL4A2-RELATED CONDITION" BROAD []
synonym: "COL4A2-RELATED DISORDER" BROAD []
synonym: "Hemorrhage, intracerebral, susceptibility to" RELATED []
synonym: "ICH" EXACT []
synonym: "Intracerebral Hemorrhage" EXACT []
synonym: "Intracerebral Hemorrhages" EXACT []
synonym: "non-lobar intracerebral hemorrhage" NARROW []
synonym: "parenchymal hematoma" EXACT []
synonym: "STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO" RELATED []
xref: EFO:0005669
xref: EFO:0010178
xref: EFO:0020101
xref: MESH:D002543
xref: MIM:614519
xref: NCI:C50485
is_a: DOID:9003104 ! Intracranial Hemorrhages

[Term]
id: DOID:9002677
name: Colic
def: "A clinical syndrome with intermittent abdominal pain characterized by sudden onset and cessation that is commonly seen in infants. It is usually associated with obstruction of the INTESTINES; of the CYSTIC DUCT; or of the URINARY TRACT." [MESH:D003085]
synonym: "Abdominal Cramp" EXACT []
synonym: "Abdominal Cramps" EXACT []
synonym: "Infantile Colic" EXACT []
xref: MESH:D003085
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9002678
name: Kumar Levick Syndrome
alt_id: MIM:106990
synonym: "anonychia-onychodystrophy with brachydactyly type B and ectrodactyly" EXACT []
xref: MESH:C536379
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9002679
name: Premature Ovarian Failure, Familial
synonym: "Idiopathic familial premature ovarian failure" EXACT []
xref: MESH:C535272
is_a: DOID:5426 ! primary ovarian insufficiency

[Term]
id: DOID:9002680
name: Zimmermann-Laband Syndrome 1
synonym: "gingival fibromatosis with abnormal fingers, fingernails, nose and ears, and splenomegaly" EXACT []
synonym: "KCNH1 ASSOCIATED DISORDER" BROAD []
synonym: "KCNH1-RELATED CONDITION" BROAD []
synonym: "ZLS1" EXACT []
xref: MIM:135500
is_a: DOID:9004260 ! Zimmerman Laband Syndrome
created_by: mtutaj
creation_date: 2019-11-12T11:38:08Z

[Term]
id: DOID:9002682
name: Cardiovascular Abnormalities
def: "Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS." [MESH:D018376]
synonym: "abnormality of cardiovascular system morphology" RELATED []
synonym: "Cardiovascular Abnormality" EXACT []
xref: EFO:0003848
xref: MESH:D018376
xref: RDO:0000746
is_a: DOID:1287 ! cardiovascular system disease
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9002683
name: Back Injuries
def: "General or unspecified injuries to the posterior part of the trunk. It includes injuries to the muscles of the back." [MESH:D019567]
synonym: "Back Injury" EXACT []
xref: MESH:D019567
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9002684
name: Localized Epidermolysis Bullosa Simplex 1C
synonym: "EBS1C" EXACT []
synonym: "epidermolysis bullosa simplex 1C, Weber-Cockayne type" EXACT []
xref: MIM:131800
is_a: DOID:0080510 ! epidermolysis bullosa simplex localized type
created_by: mtutaj
creation_date: 2021-11-03T12:17:49Z

[Term]
id: DOID:9002685
name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4
synonym: "PFBMFT4" EXACT []
synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4" EXACT []
xref: MIM:616371
is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related

[Term]
id: DOID:9002686
name: Behrens Baumann Dust Syndrome
synonym: "Oculo-cerebral dysplasia" EXACT []
xref: MESH:C537670
xref: RDO:0003550
is_a: DOID:10629 ! microphthalmia
is_a: DOID:225 ! syndrome
is_a: DOID:2786 ! cerebellar disease

[Term]
id: DOID:9002687
name: Arthrogryposis and Ectodermal Dysplasia
alt_id: MIM:601701
synonym: "Alves syndrome" EXACT []
synonym: "Arthrogryposis ectodermal dysplasia other anomalies" EXACT []
synonym: "Cote Adamopoulos Pantelakis syndrome" EXACT []
synonym: "TODV syndrome" EXACT []
synonym: "Trichooculodermovertebral syndrome" EXACT []
xref: MESH:C537441
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:9002688
name: Microcephaly with Chorioretinopathy, Autosomal Dominant
xref: MESH:C563583
is_a: DOID:10907 ! microcephaly
is_a: DOID:5679 ! retinal disease

[Term]
id: DOID:9002689
name: Spontaneous Neoplasm Regression
alt_id: RDO:0006194
def: "Disappearance of a neoplasm or neoplastic state without the intervention of therapy." [MESH:D009365]
synonym: "Spontaneous Neoplasm Remission" EXACT []
xref: MESH:D009365
is_a: DOID:9008192 ! Neoplastic Processes

[Term]
id: DOID:9002690
name: Achondrogenesis, Type 3
xref: MESH:C536018
is_a: DOID:4480 ! achondroplasia

[Term]
id: DOID:9002691
name: Stickler Syndrome, Type V
alt_id: OMIA:001523
synonym: "COL9A2-RELATED CONDITION" BROAD []
synonym: "COL9A2-RELATED DISORDER" BROAD []
synonym: "Oculoskeletal dysplasia 2" EXACT []
synonym: "Stickler Syndrome, Type 5" EXACT []
synonym: "STL5" EXACT []
xref: MIM:614284
is_a: DOID:0080046 ! Stickler syndrome

[Term]
id: DOID:9002693
name: Cataract, Polymorphic and Lamellar
xref: MESH:C563603
is_a: DOID:83 ! cataract

[Term]
id: DOID:9002694
name: Synpolydactyly 3
alt_id: MIM:610234
synonym: "SPD3" EXACT []
xref: MESH:C565216
is_a: DOID:0060242 ! synpolydactyly
is_a: DOID:1148 ! polydactyly

[Term]
id: DOID:9002695
name: Cataplexy
def: "A condition characterized by transient weakness or paralysis of somatic musculature triggered by an emotional stimulus or physical exertion. Cataplexy is frequently associated with NARCOLEPSY. During a cataplectic attack, there is a marked reduction in muscle tone similar to the normal physiologic hypotonia that accompanies rapid eye movement sleep (SLEEP, REM). (From Adams et al., Principles of Neurology, 6th ed, p396)" [MESH:D002385]
synonym: "Cataleptic Attack" EXACT []
synonym: "Cataleptic Attacks" EXACT []
synonym: "Henneberg Syndrome" EXACT []
synonym: "Status Cataplexicus" EXACT []
synonym: "Tonelessness Syndrome" EXACT []
synonym: "Tonelessness Syndromes" EXACT []
xref: MESH:D002385
is_a: DOID:8986 ! narcolepsy

[Term]
id: DOID:9002698
name: Rigor Mortis
def: "Muscular rigidity which develops in the cadaver usually from 4 to 10 hours after death and lasts 3 or 4 days." [MESH:D012298]
xref: MESH:D012298
is_a: DOID:9006374 ! Postmortem Changes

[Term]
id: DOID:9002699
name: Periapical Diseases
alt_id: RDO:0006316
def: "Diseases of the PERIAPICAL TISSUE surrounding the root of the tooth, which is distinguished from DENTAL PULP DISEASES inside the TOOTH ROOT." [MESH:D010483]
synonym: "disease of periapical tissue" EXACT []
synonym: "Periapical Disease" EXACT []
synonym: "periapical tissue condition" EXACT []
synonym: "periapical tissue disease" EXACT []
synonym: "periapical tissue disorder" EXACT []
xref: EFO:0010688
xref: MESH:D010483
is_a: DOID:3388 ! periodontal disease
is_a: DOID:9003876 ! Jaw Diseases

[Term]
id: DOID:9002701
name: Spinal Intradural Arachnoid Cysts
alt_id: MIM:182990
xref: MESH:C536878
is_a: DOID:319 ! spinal cord disease
is_a: DOID:9007612 ! Arachnoid Cysts

[Term]
id: DOID:9002702
name: Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects
synonym: "Left Ventricular Noncompaction, Nonisolated" EXACT []
synonym: "Left Ventricular Noncompaction with Congenital Heart Defects" EXACT []
xref: MESH:C564690
xref: RDO:0013563
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9002703
name: Thumb Deformity, Alopecia, Pigmentation Anomaly
synonym: "Congenital deformity of the thumb and congenital alopecia" EXACT []
synonym: "Hypotrichosis associated with congenital hypoplasia of the thumb" EXACT []
xref: MESH:C536904
xref: RDO:0002625
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:13714 ! anodontia
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9002704
name: Leukoencephalopathies
alt_id: OMIA:000526
alt_id: RDO:0001248
def: "Any of various diseases affecting the white matter of the central nervous system." [MESH:D056784]
synonym: "CACH syndrome" EXACT []
synonym: "CACH Syndromes" EXACT []
synonym: "CACH VWM Syndrome" EXACT []
synonym: "CACH VWM Syndromes" EXACT []
synonym: "Childhood Ataxia with Diffuse Central Nervous System Hypomyelination" EXACT []
synonym: "Hypomyelination of the central nervous system" EXACT []
synonym: "Leukoencephalopathy" EXACT []
synonym: "Myelinosis Centralis Diffusa" EXACT []
synonym: "Myelinosis Centralis Diffusas" EXACT []
synonym: "White Matter Disease" EXACT []
synonym: "white matter diseases" EXACT []
xref: MESH:D056784
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9002705
name: schizoaffective disorder, bipolar type
def: "This is a schizoaffective disorder that is distinguished by symptoms of mania, hypomania, or mixed episode" [EFO:0009965]
synonym: "Schizoaffective disorder-bipolar type" EXACT []
xref: EFO:0009965
is_a: DOID:5418 ! schizoaffective disorder
created_by: slaulede
creation_date: 2022-10-25T10:00:22Z

[Term]
id: DOID:9002706
name: Histidinuria, Renal Tubular Defect
alt_id: MIM:235830
synonym: "Histidinuria due to a Renal Tubular Defect" EXACT []
synonym: "Renal histidinuria" EXACT []
xref: MESH:C538321
is_a: DOID:9002207 ! Renal Aminoacidurias

[Term]
id: DOID:9002707
name: Hallux Varus
def: "Displacement of the great toe (HALLUX) towards the midline or away from the other TOES. It can be congenital or acquired." [MESH:D050488]
synonym: "Metatarsus Primus Varus" EXACT []
xref: MESH:D050488
xref: RDO:0002602
is_a: DOID:9003938 ! Foot Deformities

[Term]
id: DOID:9002710
name: Rubulavirus Infections
def: "Infections with viruses of the genus RUBULAVIRUS, family PARAMYXOVIRIDAE." [MESH:D019351]
synonym: "Rubulavirus Infection" EXACT []
xref: MESH:D019351
xref: RDO:0006154
is_a: DOID:9007244 ! Paramyxoviridae Infections

[Term]
id: DOID:9002711
name: Gallbladder Disease 2
alt_id: MIM:609918
synonym: "GBD2" EXACT []
xref: MESH:C563687
is_a: DOID:0060262 ! gallbladder disease

[Term]
id: DOID:9002712
name: Thymic-Renal-Anal-Lung Dysplasia
alt_id: MIM:274265
def: "Syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)." []
xref: MESH:C536907
is_a: DOID:10488 ! imperforate anus
is_a: DOID:9002231 ! Fetal Growth Retardation

[Term]
id: DOID:9002713
name: Gardner Morrisson Abbot Syndrome
synonym: "Thrombocytopenia multiple congenital anomaly" EXACT []
xref: MESH:C535643
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002714
name: Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type
alt_id: MIM:219900
synonym: "Cystinosis, Intermediate" EXACT []
xref: EFO:0009049
xref: MESH:C562683
is_a: DOID:1064 ! cystinosis
is_a: DOID:1184 ! nephrotic syndrome

[Term]
id: DOID:9002716
name: Primary Ovarian Insufficiency 20
def: "Characterized by female infertility due to secondary amenorrhea. Caused by homozygous mutation in the MSH4 gene on chromosome 1p31." [MIM:619938]
synonym: "POF20" EXACT []
synonym: "premature ovarian failure 20" EXACT []
xref: MIM:619938
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2022-07-01T12:30:30Z

[Term]
id: DOID:9002717
name: Parvovirus Antenatal Infection
synonym: "Maternofetal infection by parvovirus" EXACT []
synonym: "Parvovirus B19 antenatal infection" EXACT []
xref: MESH:C536301
xref: RDO:0001827
is_a: DOID:8743 ! erythema infectiosum

[Term]
id: DOID:9002718
name: Colles' Fracture
def: "Fracture of the lower end of the radius in which the lower fragment is displaced posteriorly." [MESH:D003100]
xref: MESH:D003100
is_a: DOID:9000012 ! Fracture Dislocation
is_a: DOID:9005316 ! Radius Fractures

[Term]
id: DOID:9002719
name: Hairy Ears, Y-Linked
alt_id: MIM:425500
synonym: "Hypertrichosis Pinnae Auris, Y-Linked" EXACT []
xref: MESH:C564029
is_a: DOID:0050738 ! Y-linked monogenic disease
is_a: DOID:420 ! hypertrichosis

[Term]
id: DOID:9002720
name: Splenomegaly
def: "Enlargement of the spleen." [MESH:D013163]
synonym: "Enlarged Spleen" EXACT []
xref: MESH:D013163
is_a: DOID:9000040 ! Hypertrophy

[Term]
id: DOID:9002721
name: Hypertensive Nephrosclerosis
def: "Fibrosis of the kidney caused by chronic hypertension." []
synonym: "HTNS" EXACT []
is_a: DOID:11664 ! nephrosclerosis
created_by: rgd
creation_date: 2017-06-28T00:00:00Z

[Term]
id: DOID:9002722
name: Gastric Adenocarcinoma and Proximal Polyposis of the Stomach
alt_id: MIM:619182
synonym: "fundic gland polyposis" EXACT []
synonym: "GAPPS" EXACT []
synonym: "polyposis of gastric fundus without polyposis coli" EXACT []
xref: MESH:C566775
is_a: DOID:3717 ! gastric adenocarcinoma
is_a: DOID:9003987 ! Gastric Polyposis
created_by: mtutaj
creation_date: 2021-02-15T10:01:11Z

[Term]
id: DOID:9002724
name: Brachydactyly, Long-Thumb Type
alt_id: MIM:112430
synonym: "Long-Thumb Brachydactyly Syndrome" EXACT []
xref: MESH:C566204
is_a: DOID:0050581 ! brachydactyly

[Term]
id: DOID:9002726
name: Leg Length Inequality
def: "A condition in which one of a pair of legs fails to grow as long as the other, which could result from injury or surgery." [MESH:D007870]
synonym: "Leg Length Inequalities" EXACT []
xref: MESH:D007870
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9002727
name: Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness
alt_id: MIM:226950
xref: MESH:C565585
is_a: DOID:11830 ! myopia
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9002728
name: Hyperkeratosis-Hyperpigmentation Syndrome
alt_id: MIM:144190
xref: MESH:C564172
is_a: DOID:225 ! syndrome
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:9003984 ! Hyperpigmentation

[Term]
id: DOID:9002729
name: Meningioangiomatosis
def: "This is a rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." [NCI:C121967]
xref: EFO:1000371
is_a: DOID:9003191 ! Vascular Malformations
created_by: slaulede
creation_date: 2023-02-20T17:07:14Z

[Term]
id: DOID:9002730
name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE
synonym: "NEDMHAL" EXACT []
xref: MIM:620038
is_a: DOID:10907 ! microcephaly
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:93 ! language disorder
created_by: slaulede
creation_date: 2022-12-15T10:17:09Z

[Term]
id: DOID:9002732
name: Chromosome 7, Trisomy 7p
synonym: "duplication 7p" EXACT []
synonym: "trisomy 7p" EXACT []
xref: MESH:C537819
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9002733
name: RIV Immunoglobulin Variant Protein, Human
synonym: "protein RIV, human" EXACT []
xref: MESH:C484001
xref: RDO:0000008
is_a: DOID:0060125 ! heavy chain disease

[Term]
id: DOID:9002734
name: Peroxisome Biogenesis Disorder, Complementation Group H
xref: MESH:C566626
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9002735
name: alcohol withdrawal syndrome
def: "The symptoms of this medical condition occur following a reduction in alcohol use after a period of excessive use and ranges from such minor symptoms as insomnia and tremulousness to severe complications such as withdrawal seizures and delirium tremens. Although the history and physical examination usually are sufficient to diagnose alcohol withdrawal syndrome, other conditions may present with similar symptoms." [https://en.wikipedia.org/wiki/Alcohol_withdrawal_syndrome, https://www.aafp.org/pubs/afp/issues/2004/0315/p1443.html]
synonym: "AWS" EXACT []
is_a: DOID:0060001 ! withdrawal disorder
is_a: DOID:9004354 ! Alcohol-Related Disorders
created_by: slaulederkind
creation_date: 2024-02-16T14:06:02Z

[Term]
id: DOID:9002737
name: Premature Cardiac Complexes
def: "A group of cardiac arrhythmias in which the cardiac contractions are not initiated at the SINOATRIAL NODE. They include both atrial and ventricular premature beats, and are also known as extra or ectopic heartbeats. Their frequency is increased in heart diseases." [MESH:D005117]
synonym: "Ectopic Heartbeat" EXACT []
synonym: "Ectopic Heartbeats" EXACT []
synonym: "Extrasystole" EXACT []
synonym: "Extrasystoles" EXACT []
synonym: "Premature Beat" EXACT []
synonym: "Premature Beats" EXACT []
synonym: "Premature Cardiac Complex" EXACT []
synonym: "Premature Cardiac Complices" EXACT []
xref: EFO:0009275
xref: MESH:D005117
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:9002738
name: Exercise-Induced Allergies
def: "Allergic reactions following a period of exercise. Elevated serum HISTAMINE and TRYPTASE levels and cutaneous MAST CELL degranulation are often associated with post-exertional allergic reactions which sometimes are triggered only in combination with prior consumption of a specific food such as wheat. Allergic symptoms produced post-exercise range from skin eruption, asthma, bronchospasm, and anaphylaxis." []
synonym: "Exercise-Induced Anaphylaxis" EXACT []
synonym: "Exercise-Induced Anaphylaxis and Urticaria" EXACT []
synonym: "Exercise-Induced Urticaria" EXACT []
synonym: "Food-Dependent Exercise-Induced Allergies" EXACT []
synonym: "Post-Exertional Allergic Reactions" EXACT []
synonym: "Wheat-Dependent Exercise-Induced Anaphylaxis" EXACT []
xref: MESH:D000092202
is_a: DOID:1205 ! allergic disease
created_by: mtutaj
creation_date: 2022-12-12T14:25:01Z

[Term]
id: DOID:9002739
name: Female Urogenital Diseases
def: "Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE)." [MESH:D052776]
synonym: "Female Genitourinary Disease" EXACT []
synonym: "Female Genitourinary Diseases" EXACT []
synonym: "Female Urogenital Disease" EXACT []
xref: MESH:D052776
xref: RDO:0005654
is_a: DOID:9000723 ! Female Urogenital Diseases and Pregnancy Complications

[Term]
id: DOID:9002740
name: Chromosome 1q, Duplication 1q12 q21
synonym: "Duplication 1q12 q21" EXACT []
xref: MESH:C538312
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9002741
name: Whiplash Injuries
def: "Hyperextension injury to the neck, often the result of being struck from behind by a fast-moving vehicle, in an automobile accident. (From Segen, The Dictionary of Modern Medicine, 1992)" [MESH:D014911]
synonym: "Whiplash Injury" EXACT []
xref: MESH:D014911
is_a: DOID:9002927 ! Neck Injuries

[Term]
id: DOID:9002742
name: Central Nervous System Bacterial Infections
def: "Bacterial infections of the brain, spinal cord, and meninges, including infections involving the perimeningeal spaces." [MESH:D020806]
xref: MESH:D020806
xref: RDO:0005051
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:9000025 ! Central Nervous System Infections

[Term]
id: DOID:9002743
name: Striatal Degeneration, Autosomal Dominant 1
synonym: "ADSD1" EXACT []
xref: MIM:609161
is_a: DOID:9006845 ! Striatal Degeneration, Autosomal Dominant

[Term]
id: DOID:9002744
name: Ichthyosis Hystrix, Curth Macklin Type
alt_id: MIM:146590
def: "Four genetic disorders of keratinization are known to have a structural defect of tonofibrils. In the Curth-Macklin form of ichthyosis hystrix (IHCM), concentric unbroken shells of abnormal tonofilaments form around the nucleus. IHCM is caused by heterozygous mutation in the KRT1 gene (139350) on chromosome 12q13. (OMIM)" []
synonym: "IHCM" EXACT []
xref: MESH:C536088
is_a: DOID:8741 ! seborrheic dermatitis
is_a: DOID:9000971 ! Ichthyosis Hystrix

[Term]
id: DOID:9002745
name: Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures
synonym: "SBIDDS" EXACT []
xref: MIM:617157
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
created_by: rgd
creation_date: 2017-04-06T00:00:00Z

[Term]
id: DOID:9002746
name: Infantile Myofibromatosis 2
alt_id: RDO:9000897
synonym: "IMF2" EXACT []
xref: MIM:615293
is_a: DOID:0080109 ! infantile myofibromatosis

[Term]
id: DOID:9002747
name: Selective Tooth Agenesis 2
alt_id: MIM:602639
alt_id: RDO:0014847
synonym: "HYD2" EXACT []
synonym: "Hypodontia-Oligodontia 2" EXACT []
synonym: "STHAG2" EXACT []
xref: MESH:C566513
is_a: DOID:0050591 ! tooth agenesis

[Term]
id: DOID:9002748
name: Candidiasis, Familial, 1
alt_id: MIM:114580
synonym: "CANDF1" EXACT []
synonym: "Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant, With Or Without Thyroid Disease" EXACT []
synonym: "CMCT" EXACT []
xref: MESH:C567779
xref: RDO:0015741
is_a: DOID:2058 ! chronic mucocutaneous candidiasis

[Term]
id: DOID:9002749
name: Prostate Cancer, Hereditary, 11
alt_id: MIM:611955
synonym: "HPC11" EXACT []
xref: MESH:C567449
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9002750
name: Rosenthal-Kloepfer Syndrome
alt_id: MIM:102100
synonym: "Acromegaloid changes, cutis verticis gyrata and corneal leukoma" EXACT []
xref: MESH:C535654
is_a: DOID:225 ! syndrome
is_a: DOID:2449 ! acromegaly
is_a: DOID:3136 ! scalp dermatosis
is_a: DOID:9008606 ! Corneal Opacity

[Term]
id: DOID:9002751
name: Intellectual Developmental Disorder, Autosomal Recessive 19
synonym: "mental retardation, autosomal recessive 19" EXACT []
synonym: "MRT19" EXACT []
xref: MIM:614343
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder

[Term]
id: DOID:9002752
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
def: "This disease is an autosomal recessive neurologic syndrome characterized by global developmental delay with severely impaired intellectual development, hypotonia and muscle weakness, and characteristic coarse facial features. Additional features include feeding difficulties, respiratory distress, scoliosis, poor visual function, and rotary nystagmus. Brain imaging shows variable abnormalities, including enlarged ventricles, decreased white matter volume, white matter changes, thin corpus callosum, and cerebellar hypoplasia." [MIM:619383]
synonym: "NEDHFBA" EXACT []
xref: MIM:619383
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:936 ! brain disease
created_by: slaulede
creation_date: 2021-08-23T17:57:12Z

[Term]
id: DOID:9002753
name: Humerofemoral Hypoplasia with Radiotibial Ray Deficiency
def: "A severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis." [MIM:618022]
synonym: "HFHRTRD" EXACT []
synonym: "HHRRD" EXACT []
xref: MIM:618022
is_a: DOID:1934 ! dysostosis
created_by: slaulede
creation_date: 2019-07-11T12:41:35Z

[Term]
id: DOID:9002754
name: Pseudophakic Bullous Keratopathy
def: "A blister-like swelling of the cornea in an pseudophakic eye, that is an eye with an artificial lens." []
synonym: "PBK" EXACT []
synonym: "Pseudophakic corneal edema" EXACT []
is_a: DOID:11031 ! bullous keratopathy

[Term]
id: DOID:9002755
name: Benign Ovarian Mucinous Tumor
def: "A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." [EFO:1000115]
xref: EFO:1000115
is_a: DOID:0060112 ! ovarian benign neoplasm
created_by: slaulede
creation_date: 2022-10-07T14:13:03Z

[Term]
id: DOID:9002756
name: Euhidrotic Ectodermal Dysplasia
alt_id: MIM:262020
synonym: "Kopysc Barczyk Krol syndrome" EXACT []
synonym: "Pilodental dysplasia with refractive errors" EXACT []
synonym: "Trichodental dysplasia with hyperopia" EXACT []
xref: MESH:C535763
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9009007 ! Tooth Abnormalities
is_a: DOID:9834 ! hyperopia

[Term]
id: DOID:9002757
name: Perrault Syndrome 3
synonym: "AUTOSOMAL RECESSIVE HEARING IMPAIRMENT WITH NORMAL MENSTRUAL CYCLES" EXACT []
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 81" EXACT []
synonym: "DFNB81" EXACT []
synonym: "PRLTS3" EXACT []
xref: MIM:614129
is_a: DOID:0050857 ! Perrault syndrome

[Term]
id: DOID:9002758
name: Congenital Hydrocephalus 5
synonym: "HYC5" EXACT []
synonym: "hydrocephalus, congenital, 5, susceptibility to" RELATED []
synonym: "SMARCC1-ASSOCIATED DEVELOPMENTAL DYSGENESIS SYNDROME" RELATED []
xref: MIM:620241
is_a: DOID:10908 ! hydrocephalus
created_by: mtutaj
creation_date: 2023-02-16T15:34:02Z

[Term]
id: DOID:9002759
name: Mediastinal Cysts
def: "Cysts of one of the parts of the mediastinum: the superior part, containing the trachea, esophagus, thoracic duct and thymus organs; the inferior middle part, containing the pericardium; the inferior anterior part containing some lymph nodes; and the inferior posterior part, containing the thoracic duct and esophagus." [MESH:D008476]
synonym: "mediastinal cyst" EXACT []
synonym: "Pericardial Cyst" EXACT []
synonym: "Pericardial Cysts" EXACT []
synonym: "Thoracic Cyst" EXACT []
synonym: "Thoracic Cysts" EXACT []
synonym: "Thymic Cyst" EXACT []
synonym: "Thymic Cysts" EXACT []
synonym: "Tracheal Cyst" EXACT []
synonym: "Tracheal Cysts" EXACT []
xref: EFO:1001368
xref: MESH:D008476
is_a: DOID:9007003 ! Mediastinal Diseases
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9002760
name: Morphological and Microscopic Findings
def: "Morphological findings useful in differentiation and classification of results in CYTODIAGNOSIS and related techniques." [MESH:D065308]
xref: MESH:D065308
xref: RDO:0015969
is_a: DOID:9000298 ! Pathological Conditions, Signs and Symptoms

[Term]
id: DOID:9002761
name: Dyschromatosis Universalis Hereditaria 1
alt_id: RDO:0015389
def: "Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. Dyschromatosis universalis hereditaria-1 (DUH1) is caused by heterozygous mutation in the SASH1 gene on chromosome 6q24. (OMIM)" []
synonym: "DUH1" EXACT []
xref: MESH:C567273
xref: MIM:127500
is_a: DOID:0060304 ! dyschromatosis universalis hereditaria

[Term]
id: DOID:9002762
name: Ovarian Neoplasms
def: "Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." [MESH:D010051]
synonym: "Borderline Ovarian Endometrioid Tumor" NARROW []
synonym: "Borderline Ovarian Serous Tumor" NARROW []
synonym: "Borderline Ovarian Surface Epithelial-Stromal Tumor" NARROW []
synonym: "ovarian neoplasm" EXACT []
synonym: "Ovarian Steroid Cell Tumor" NARROW []
synonym: "Ovarian Tumor of the Thecoma/Fibroma Group" NARROW []
synonym: "ovary neoplasm" EXACT []
synonym: "ovary neoplasms" EXACT []
synonym: "tumor of the ovary" EXACT []
xref: EFO:0003893
xref: EFO:1000137
xref: EFO:1000139
xref: EFO:1000140
xref: EFO:1000433
xref: EFO:1000436
xref: MESH:D010051
is_a: DOID:1100 ! ovarian disease
is_a: DOID:9007399 ! Female Genital Neoplasms
is_a: DOID:9007803 ! Endocrine Gland Neoplasms

[Term]
id: DOID:9002763
name: Experimental Autoimmune Encephalomyelitis
def: "An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)" [MESH:D004681]
synonym: "Allergic Encephalomyelitis" EXACT []
synonym: "EAE" EXACT []
synonym: "Experimental Allergic Encephalomyelitides" EXACT []
synonym: "Experimental Allergic Encephalomyelitis" EXACT []
xref: EFO:0001066
xref: MESH:D004681
is_a: DOID:640 ! encephalomyelitis
is_a: DOID:9000990 ! Experimental Nervous System Autoimmune Disease
is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS

[Term]
id: DOID:9002764
name: Salivary Gland Fistula
def: "A fistula between a salivary duct or gland and the cutaneous surface of the oral cavity." [MESH:D012467]
synonym: "Salivary Gland Fistulas" EXACT []
xref: MESH:D012467
is_a: DOID:10854 ! salivary gland disease
is_a: DOID:9008436 ! Oral Fistula

[Term]
id: DOID:9002765
name: Systemic Juvenile Rheumatoid Arthritis
alt_id: MIM:604302
xref: EFO:1001999
xref: MESH:C565798
is_a: DOID:676 ! juvenile rheumatoid arthritis

[Term]
id: DOID:9002766
name: Knobloch Syndrome Type I
synonym: "COL18A1-RELATED CONDITION" BROAD []
synonym: "KNO1" EXACT []
synonym: "Knobloch syndrome 1" EXACT []
xref: MIM:267750
xref: NCI:C201594
is_a: DOID:9002033 ! Knobloch Syndrome
created_by: mtutaj
creation_date: 2022-07-26T10:47:38Z

[Term]
id: DOID:9002767
name: Microhydranencephaly
alt_id: MIM:605013
synonym: "Hydranencephaly and microcephaly" EXACT []
synonym: "MHAC" EXACT []
xref: MESH:C537555
is_a: DOID:10907 ! microcephaly
is_a: DOID:4626 ! hydranencephaly

[Term]
id: DOID:9002768
name: Perrault Syndrome 2
synonym: "PRLTS2" EXACT []
xref: MIM:614926
is_a: DOID:0050857 ! Perrault syndrome

[Term]
id: DOID:9002769
name: Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects
alt_id: MIM:600123
xref: MESH:C563994
is_a: DOID:0050651 ! atrioventricular septal defect
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:9002770
name: Eosinophilic Synovitis
synonym: "Idiopathic eosinophilic synovitis" EXACT []
synonym: "Shulman syndrome" EXACT []
xref: MESH:C535954
xref: RDO:0001341
is_a: DOID:2703 ! synovitis
is_a: DOID:9001371 ! Eosinophilia

[Term]
id: DOID:9002771
name: Bryant-Li-Bhoj Neurodevelopmental Syndrome
xref: MIM:PS619720
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2022-02-10T13:38:59Z

[Term]
id: DOID:9002772
name: Acute Rhinosinusitis
def: "Acute inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES, having a sudden onset, sharp rise, and short course." []
is_a: DOID:9005941 ! Rhinosinusitis

[Term]
id: DOID:9002774
name: Mitochondrial DNA Depletion Syndrome, Myopathic Form
synonym: "Mitochondrial DNA Depletion Myopathy, Autosomal Recessive" EXACT []
xref: MESH:C563698
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:0080000 ! muscular disease

[Term]
id: DOID:9002775
name: Cognitive Dysfunction
def: "Diminished or impaired mental and/or intellectual function." [MESH:D060825]
synonym: "Cognitive Decline" EXACT []
synonym: "cognitive declines" EXACT []
synonym: "Cognitive Dysfunctions" EXACT []
synonym: "Cognitive Impairment" EXACT []
synonym: "Cognitive Impairments" EXACT []
synonym: "Mental Deterioration" EXACT []
synonym: "mental deteriorations" EXACT []
xref: MESH:D060825
is_a: DOID:1561 ! cognitive disorder

[Term]
id: DOID:9002776
name: Abrikosov's Tumor
synonym: "Abrikosoff's granulous cell tumor" EXACT []
synonym: "Abrikosoff's tumor" EXACT []
synonym: "Giant granulo-cellular Abrikosov's tumor" EXACT []
synonym: "Malignant variant of Abrikosov's tumor" EXACT []
xref: MESH:C535558
is_a: DOID:2999 ! granulosa cell tumor

[Term]
id: DOID:9002777
name: Brain Stem Neoplasms
def: "Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." [MESH:D020295]
synonym: "Brain Stem Neoplasm" EXACT []
synonym: "Brainstem Neoplasm" EXACT []
synonym: "Brainstem Neoplasms" EXACT []
synonym: "Brain Stem Tumor" EXACT []
synonym: "Brainstem Tumor" EXACT []
synonym: "Brain Stem Tumors" EXACT []
synonym: "Brainstem Tumors" EXACT []
synonym: "Medullary Neoplasm" EXACT []
synonym: "Medullary Neoplasms" EXACT []
synonym: "Medullary Tumor" EXACT []
synonym: "Medullary Tumors" EXACT []
synonym: "Mesencephalic Neoplasm" EXACT []
synonym: "Mesencephalic Neoplasms" EXACT []
synonym: "Midbrain Neoplasm" EXACT []
synonym: "Midbrain Neoplasms" EXACT []
synonym: "Midbrain Tumor" EXACT []
synonym: "Midbrain Tumors" EXACT []
synonym: "Pontine Neoplasm" EXACT []
synonym: "Pontine Neoplasms" EXACT []
synonym: "Pontine Tumor" EXACT []
synonym: "Pontine Tumors" EXACT []
synonym: "Primary Brainstem Neoplasm" EXACT []
synonym: "Primary Brain Stem Neoplasms" EXACT []
synonym: "Primary Brainstem Neoplasms" EXACT []
xref: EFO:1001767
xref: MESH:D020295
xref: RDO:0007387
is_a: DOID:9001662 ! Infratentorial Neoplasms

[Term]
id: DOID:9002778
name: McPherson Clemens Syndrome
alt_id: MIM:601165
synonym: "Cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease" EXACT []
synonym: "Cleft Lip-Palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease" EXACT []
xref: MESH:C538160
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:8445 ! intestinal volvulus
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9002779
name: Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss
synonym: "MYH14-RELATED CONDITION" BROAD []
synonym: "PNMHH" EXACT []
xref: MIM:614369
xref: RDO:9000679
is_a: DOID:0080000 ! muscular disease
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9008513 ! Hoarseness

[Term]
id: DOID:9002780
name: Recurrent Respiratory Papillomatosis
alt_id: MIM:618803
alt_id: RDO:0000328
def: "An autosomal recessive disorder characterized by the development of recurrent growth of papillomas (warts) on respiratory epithelial cells in the upper airway, particularly the larynx. Patients present in early childhood with hoarse voice and, in severe cases, respiratory stridor due to airway obstruction." []
synonym: "congenital juvenile recurrent respiratory papillomatosis" EXACT []
synonym: "JRRP" EXACT []
synonym: "Juvenile laryngeal papilloma" EXACT []
synonym: "Juvenile-onset recurrent respiratory papillomatosis" EXACT []
synonym: "Laryngeal papilloma, recurrent" EXACT []
synonym: "Respiratory papillomatosis" EXACT []
synonym: "RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL" EXACT []
xref: MESH:C535297
is_a: DOID:11166 ! papillomavirus infectious disease
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:9002781
name: Zoonoses
def: "Diseases of non-human animals that may be transmitted to HUMANS or may be transmitted from humans to non-human animals." [MESH:D015047]
synonym: "Zoonotic Disease" EXACT []
synonym: "Zoonotic Diseases" EXACT []
synonym: "Zoonotic Infection" EXACT []
synonym: "Zoonotic Infections" EXACT []
synonym: "Zoonotic Infectious Disease" EXACT []
synonym: "Zoonotic Infectious Diseases" EXACT []
xref: MESH:D015047
is_a: DOID:1398 ! parasitic infectious disease
is_a: DOID:9004384 ! Bacterial Infections and Mycoses
is_a: DOID:9004985 ! Animal Diseases
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9002782
name: UV-Induced Skin Damage
synonym: "Uv-induced skin damage, susceptibility to" RELATED []
xref: RDO:9000711
is_a: DOID:3159 ! photosensitivity disease

[Term]
id: DOID:9002783
name: Ganser Syndrome
comment: Ganser syndrome was previously classified as a factitious disorder, but DSM-IV placed the syndrome under “Dissociative Disorders Not Otherwise Specified" (Diagnostic and Statistical Manual of Mental Disorders. 4th ed. 2000)
is_a: DOID:10935 ! dissociative disorder
created_by: mtutaj
creation_date: 2020-01-24T09:44:20Z

[Term]
id: DOID:9002784
name: Chromosome Xq Duplication Syndrome
synonym: "Chromosome Xq trisomy" EXACT []
synonym: "Dup(Xq) syndrome" EXACT []
synonym: "Duplication Xq" EXACT []
synonym: "Trisomy Xq" EXACT []
synonym: "X chromosome, trisomy Xq" EXACT []
xref: MESH:C536732
xref: RDO:0002398
is_a: DOID:225 ! syndrome
is_a: DOID:9003307 ! Sex Chromosome Aberrations
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9004151 ! Sex Chromosome Disorders

[Term]
id: DOID:9002785
name: Vitamin B Deficiency
def: "A condition due to deficiency in any member of the VITAMIN B COMPLEX. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat." [MESH:D014804]
synonym: "Vitamin B Deficiencies" EXACT []
xref: MESH:D014804
is_a: DOID:9004644 ! Avitaminosis

[Term]
id: DOID:9002786
name: Surgical Wound Infection
def: "Infection occurring at the site of a surgical incision." [MESH:D013530]
synonym: "Postoperative Wound Infection" EXACT []
synonym: "Postoperative Wound Infections" EXACT []
synonym: "Surgical Site Infection" EXACT []
synonym: "Surgical Site Infections" EXACT []
synonym: "Surgical Wound Infections" EXACT []
xref: MESH:D013530
is_a: DOID:9000790 ! Postoperative Complications
is_a: DOID:9008861 ! Wound Infection

[Term]
id: DOID:9002787
name: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
synonym: "acquired macrocephaly with impaired intellectual development" EXACT []
synonym: "MACID" EXACT []
synonym: "MACROCEPHALY, ACQUIRED, WITH MENTAL RETARDATION" EXACT []
xref: MIM:618286
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9003816 ! Macrocephaly
created_by: slaulede
creation_date: 2020-12-14T17:54:41Z

[Term]
id: DOID:9002788
name: Lacunar Strokes
def: "Stroke caused by lacunar infarction or other small vessel diseases of the brain. It features hemiparesis (see PARESIS), hemisensory, or hemisensory motor loss." [MESH:D059409]
synonym: "Lacunar Infarct" EXACT []
synonym: "Lacunar Infarction" EXACT []
synonym: "Lacunar Infarctions" EXACT []
synonym: "Lacunar Infarcts" EXACT []
synonym: "lacunar stroke" EXACT []
synonym: "Lacunar Syndrome" EXACT []
synonym: "lacunar syndromes" EXACT []
xref: MESH:D059409
is_a: DOID:0112313 ! brain small vessel disease
is_a: DOID:9007096 ! Stroke

[Term]
id: DOID:9002789
name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE
def: "This is a disease which occurs predominantly in females, is characterized by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioral problems." [MIM:300958]
synonym: "DDX3X-RELATED CONDITION" EXACT []
synonym: "DDX3X-RELATED X-LINKED INTELLECTUAL DISABILITY" EXACT []
synonym: "Mental Retardation, X-Linked 102" EXACT []
synonym: "MRX102" EXACT []
synonym: "MRXSSB" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder, Snijders Blok type" EXACT []
synonym: "X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME" EXACT []
xref: MIM:300958
xref: NCI:C129931
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9002790
name: Elastosis Perforans Serpiginosa
alt_id: MIM:130100
synonym: "Elastoma intrapapillare perforans verruciformis" EXACT []
synonym: "Miescher elastoma" EXACT []
xref: MESH:C536202
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9002791
name: Microcephaly, Epilepsy, and Diabetes Syndrome
synonym: "MEDS" EXACT []
xref: MIM:PS614231
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9002792
name: Chromosome 1 Ring
xref: MESH:C535361
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9002793
name: Camptodactyly 1
alt_id: MIM:114200
synonym: "CAMPD1" EXACT []
synonym: "Camptodactyly And Knuckle Pads" EXACT []
synonym: "CAMPTODACTYLY AND KNUCKLE PADS  STREBLODACTYLY" NARROW []
xref: MESH:C567780
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9002794
name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES
synonym: "DHX37-RELATED CONDITION" BROAD []
synonym: "NEDBAVC" EXACT []
xref: MIM:618731
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2020-02-13T18:33:43Z

[Term]
id: DOID:9002795
name: Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy
def: "A severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. (OMIM)" []
synonym: "MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY" EXACT []
synonym: "MSCCA" EXACT []
xref: MIM:615760
is_a: DOID:0070338 ! cerebellar hypoplasia
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004462 ! Atrophy

[Term]
id: DOID:9002796
name: Benign Recurrent Vertigo 2
alt_id: MIM:613106
synonym: "BRV2" EXACT []
xref: MESH:C567749
is_a: DOID:13941 ! benign paroxysmal positional vertigo

[Term]
id: DOID:9002797
name: Florid Cystic Endosalpingiosis of the Uterus
alt_id: RDO:0002827
synonym: "Cystic endosalpingiosis of the uterus" EXACT []
xref: MESH:C537064
is_a: DOID:3111 ! cystadenocarcinoma
is_a: DOID:9000189 ! Fallopian Tube Neoplasms

[Term]
id: DOID:9002798
name: Macrophage Activation Syndrome
def: "A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS." [MESH:D055501]
xref: EFO:1001806
xref: MESH:D055501
xref: RDO:0007709
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9002799
name: Familial Popliteal Pterygium Syndrome
synonym: "Lewis Pashayan syndrome" EXACT []
xref: MESH:C535891
is_a: DOID:0060055 ! popliteal pterygium syndrome
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9002800
name: Infantile Polymyoclonus
xref: MESH:C535524
xref: MIM:263550
xref: MONDO:0009896
is_a: DOID:9001087 ! Opsoclonus-Myoclonus Syndrome

[Term]
id: DOID:9002801
name: Recurrence
def: "The return of a sign, symptom, or disease after a remission." [MESH:D012008]
synonym: "disease recurrence" EXACT []
synonym: "Recrudescence" EXACT []
synonym: "Recrudescences" EXACT []
synonym: "Recurrences" EXACT []
synonym: "Relapse" EXACT []
synonym: "Relapses" EXACT []
xref: EFO:0004952
xref: MESH:D012008
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9002802
name: Acidoses
def: "A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up." []
synonym: "acidosis" EXACT []
xref: EFO:1000014
xref: MESH:D000138
is_a: DOID:9006795 ! Acid-Base Imbalance

[Term]
id: DOID:9002803
name: Chronic Exertional Compartment Syndrome
def: "Compartment syndrome characterized by pain in muscle groups with elevated compartment pressures due most often exercise training in athletes. Most often encountered chronic exertional compartment syndrome is in the anterior or deep posterior compartments of the lower leg in athletes in training similar to POPLITEAL ARTERY ENTRAPMENT SYNDROME. (MESH)" []
xref: MESH:D000083182
is_a: DOID:682 ! compartment syndrome
created_by: mtutaj
creation_date: 2020-12-21T21:23:05Z

[Term]
id: DOID:9002804
name: Amaurosis Fugax
def: "Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)" [MESH:D020757]
synonym: "Transient Monocular Blindness" EXACT []
xref: MESH:D020757
xref: RDO:0007423
is_a: DOID:1432 ! blindness

[Term]
id: DOID:9002805
name: Enterocolitis
alt_id: MIM:226150
def: "Inflammation of the MUCOSA of both the SMALL INTESTINE and the LARGE INTESTINE. Etiology includes ISCHEMIA, infections, allergic, and immune responses." [MESH:D004760]
synonym: "enterocolitides" EXACT []
xref: EFO:1001481
xref: MESH:D004760
is_a: DOID:2326 ! gastroenteritis
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:9002806
name: Acquired Pulmonary Alveolar Proteinosis
alt_id: MIM:610910
synonym: "Pulmonary Alveolar Lipoproteinosis, Acquired" EXACT []
synonym: "Pulmonary Alveolar Proteinosis, Autoimmune" EXACT []
xref: MESH:C567049
xref: NCI:C202011
is_a: DOID:12120 ! pulmonary alveolar proteinosis
is_a: DOID:417 ! autoimmune disease

[Term]
id: DOID:9002807
name: Fryns Macrocephaly
alt_id: MIM:600302
synonym: "Macrocephaly with Spastic Paraplegia and Distinctive Craniofacial Appearance" EXACT []
xref: MESH:C563963
is_a: DOID:607 ! paraplegia
is_a: DOID:9001487 ! Facies
is_a: DOID:9003816 ! Macrocephaly

[Term]
id: DOID:9002809
name: Congenital Heart Defects, Multiple Types, 4
synonym: "CHTD4" EXACT []
synonym: "multiple types of congenital heart defects 4" EXACT []
xref: MIM:615779
is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types

[Term]
id: DOID:9002810
name: Gastrointestinal Defects and Immunodeficiency Syndrome 2
def: "A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Caused by homozygous mutation in the PI4KA gene on chromosome 22q11." [MIM:619708]
synonym: "GIDID2" EXACT []
synonym: "multiple intestinal atresia with or without leukopenia" EXACT []
xref: MIM:619708
xref: MONDO:0030669
is_a: DOID:10486 ! intestinal atresia
is_a: DOID:9009203 ! Gastrointestinal defects and immunodeficiency syndrome
created_by: mtutaj
creation_date: 2022-01-27T09:49:48Z

[Term]
id: DOID:9002811
name: Facial Dysmorphism with Multiple Malformations
alt_id: MIM:227255
xref: MESH:C565579
is_a: DOID:767 ! muscular atrophy
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9002812
name: Elevated Adenosine Triphosphate of Erythrocytes
alt_id: MIM:102900
def: "Autosomal dominant phenotype characterized by increase of red blood cell ATP." [EFO:0005840]
synonym: "adenosine triphosphate, elevated, of erythrocytes" EXACT []
synonym: "PKHYP" EXACT []
synonym: "PKLR-RELATED CONDITION" BROAD []
synonym: "Pyruvate Kinase Hyperactivity" EXACT []
xref: EFO:0005840
xref: MESH:C566310
is_a: DOID:74 ! hematopoietic system disease

[Term]
id: DOID:9002813
name: Peroxisome Biogenesis Disorder, Complementation Group R
xref: MESH:C566635
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9002814
name: Glycogen Storage Disease IIIC
synonym: "GSD IIIC" EXACT []
xref: MESH:C566891
is_a: DOID:2748 ! glycogen storage disease III

[Term]
id: DOID:9002815
name: Generalized Severe Epidermolysis Bullosa Simplex 2A
def: "An autosomal dominant skin disorder characterized by extensive intraepidermal blistering after minor mechanical stress since birth with herpetiform marginal spreading and central healing. Caused by heterozygous mutation in the KRT5 gene on chromosome 12q13. (OMIM)" []
synonym: "EBS2A" EXACT []
synonym: "epidermolysis bullosa simplex 2A, Dowling-Meara type" EXACT []
xref: MIM:619555
is_a: DOID:0060735 ! epidermolysis bullosa simplex Dowling-Meara type
created_by: mtutaj
creation_date: 2021-11-03T11:51:09Z

[Term]
id: DOID:9002816
name: CHOPRA-AMIEL-GORDON SYNDROME
def: "This disease is an autosomal dominant disorder characterized by developmental delay and/or impaired intellectual development, speech delay, facial dysmorphism, and variable other features." [MIM:619504]
synonym: "CAGS" EXACT []
xref: MIM:619504
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2021-10-15T13:47:57Z

[Term]
id: DOID:9002817
name: Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands
synonym: "Cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly" EXACT []
xref: MESH:C537354
is_a: DOID:9000073 ! Metaphyseal Chondrodysplasia

[Term]
id: DOID:9002818
name: Degloving Injuries
def: "Avulsions of the superficial tissues of SKIN and SUBCUTANEOUS TISSUE from the underlying FASCIA." [MESH:D000069836]
synonym: "Degloving Injury" EXACT []
synonym: "Degloving Wound" EXACT []
synonym: "Degloving Wounds" EXACT []
synonym: "Skin Avulsion" EXACT []
synonym: "Skin Avulsion Injuries" EXACT []
synonym: "Skin Avulsion Injury" EXACT []
synonym: "Skin Avulsions" EXACT []
xref: MESH:D000069836
xref: RDO:0016081
is_a: DOID:9001913 ! Soft Tissue Injuries

[Term]
id: DOID:9002819
name: Coronary Occlusion
def: "Complete blockage of blood flow through one of the CORONARY ARTERIES, usually from CORONARY ATHEROSCLEROSIS." [MESH:D054059]
synonym: "Coronary Occlusions" EXACT []
xref: MESH:D054059
is_a: DOID:9000528 ! Coronary Disease

[Term]
id: DOID:9002820
name: Adams Nance Syndrome
synonym: "Tachycardia hypertension microphthalmos hyperglycinuria" EXACT []
xref: MESH:C538224
is_a: DOID:10629 ! microphthalmia
is_a: DOID:10763 ! hypertension
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9004669 ! Paroxysmal Tachycardia
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9002821
name: Bifid Femur with Monodactylous Ectrodactyly
alt_id: MIM:228250
synonym: "Gollop-Wolfgang complex" EXACT []
synonym: "Unilateral Bifid Femur with Monodactylous Ectrodactyly" EXACT []
xref: MESH:C537917
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002822
name: Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis
alt_id: RDO:0014665
xref: MESH:C566263
is_a: DOID:3145 ! hyperlipoproteinemia type III
is_a: DOID:3345 ! xanthomatosis

[Term]
id: DOID:9002823
name: Gram-Positive Bacterial Infections
def: "Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method." [MESH:D016908]
synonym: "Enterococcus faecalis infection" NARROW []
synonym: "Gram-Positive Bacterial Infection" EXACT []
xref: EFO:0000780
xref: MESH:D016908
is_a: DOID:104 ! bacterial infectious disease

[Term]
id: DOID:9002824
name: Vaginal Fistula
def: "An abnormal anatomical passage that connects the VAGINA to other organs, such as the bladder (VESICOVAGINAL FISTULA) or the rectum (RECTOVAGINAL FISTULA)." [MESH:D014624]
synonym: "female genital tract fistula" EXACT []
synonym: "Vaginal Fistulas" EXACT []
xref: EFO:0009524
xref: MESH:D014624
is_a: DOID:121 ! vaginal disease
is_a: DOID:9007343 ! Fistula

[Term]
id: DOID:9002825
name: Leichtman Wood Rohn Syndrome
synonym: "Anophthalmia, cleft lip-palate, facial anomalies, and CNS anomalies and hypothalamic disorder" EXACT []
xref: MESH:C537003
xref: RDO:0002742
is_a: DOID:225 ! syndrome
is_a: DOID:9002049 ! Anophthalmia
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9002826
name: Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty
xref: MESH:C567168
is_a: DOID:2696 ! Leydig cell tumor
is_a: DOID:657 ! adenoma
is_a: DOID:9007284 ! Precocious Puberty

[Term]
id: DOID:9002827
name: Porcine Postweaning Multisystemic Wasting Syndrome
def: "A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by PORCINE CIRCOVIRUS infection, specifically type 2 or PCV-2." [MESH:D053570]
synonym: "postweaning multisystemic wasting syndrome" EXACT []
xref: EFO:1000048
xref: MESH:D053570
xref: RDO:0007625
is_a: DOID:225 ! syndrome
is_a: DOID:9008435 ! Swine Diseases
is_a: DOID:9008580 ! Circoviridae Infections

[Term]
id: DOID:9002828
name: Mitochondrial Trifunctional Protein Deficiency 2
synonym: "HADHB-RELATED CONDITION" EXACT []
synonym: "MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY" NARROW []
synonym: "MTPD2" EXACT []
synonym: "trifunctional protein deficiency, type 2" EXACT []
xref: MIM:620300
is_a: DOID:0111277 ! mitochondrial trifunctional protein deficiency
created_by: mtutaj
creation_date: 2023-03-31T08:48:35Z

[Term]
id: DOID:9002829
name: Ciuffo Syndrome
alt_id: MIM:178650
synonym: "Pulmonic Stenosis, Atrial Septal Defect, and Unique Electrocardiographic Abnormalities" EXACT []
xref: MESH:C566733
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:225 ! syndrome
is_a: DOID:6420 ! pulmonary valve stenosis

[Term]
id: DOID:9002830
name: Spondylometaphyseal Dysplasia Pagnamenta Type
def: "Characterized by short stature and mild platyspondyly with no disproportion between the limbs. Caused by homozygous mutation in the PRKG2 gene on chromosome 4q21." [MIM:619638]
synonym: "SMDP" EXACT []
xref: MIM:619638
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
created_by: mtutaj
creation_date: 2021-11-30T10:20:38Z

[Term]
id: DOID:9002833
name: Exertional Myalgia, Muscle Stiffness and Myoglobinuria
is_a: DOID:0080108 ! myoglobinuria
is_a: DOID:9003760 ! Myalgia

[Term]
id: DOID:9002834
name: Herpesviridae Infections
def: "Virus diseases caused by the HERPESVIRIDAE." [MESH:D006566]
synonym: "Herpesviridae Infection" EXACT []
synonym: "Herpesviridae infectious disease" EXACT []
synonym: "Herpesvirus Infection" EXACT []
synonym: "Herpesvirus Infections" EXACT []
xref: EFO:0007309
xref: MESH:D006566
xref: RDO:0005189
is_a: DOID:9000251 ! DNA Virus Infections

[Term]
id: DOID:9002837
name: Ape Diseases
def: "Diseases of chimpanzees, gorillas, and orangutans." [MESH:D018420]
synonym: "Ape Disease" EXACT []
synonym: "Pongidae Disease" EXACT []
synonym: "Pongidae Diseases" EXACT []
xref: MESH:D018420
xref: RDO:0007197
is_a: DOID:9001374 ! Primate Diseases

[Term]
id: DOID:9002838
name: Muscle Diastasis
def: "Abnormal separation of muscles." [MESH:D000070630]
synonym: "Muscle Diastases" EXACT []
synonym: "Myodiastases" EXACT []
synonym: "Myodiastasis" EXACT []
xref: MESH:D000070630
is_a: DOID:9003279 ! Joint Dislocations

[Term]
id: DOID:9002839
name: Rahman Syndrome
def: "This is a disease characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference." [MIM:617537]
synonym: "HIST1H1E-RELATED NEURODEVELOPMENTAL DISORDER WITH MULTIPLE ANOMALIES" EXACT []
synonym: "RMNS" EXACT []
xref: MIM:617537
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9006084 ! Gigantism
created_by: rgd
creation_date: 2017-07-12T00:00:00Z

[Term]
id: DOID:9002840
name: Endometrial Hyperplasia without Atypia
def: "This disease is simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." [NCI:C40157]
synonym: "typical endometrial hyperplasia" EXACT []
xref: EFO:1000234
is_a: DOID:0080365 ! endometrial hyperplasia
created_by: slaulede
creation_date: 2023-01-20T12:57:20Z

[Term]
id: DOID:9002842
name: Phacomatosis Pigmentovascularis
xref: MESH:C537894
is_a: DOID:9001734 ! Neurocutaneous Syndromes

[Term]
id: DOID:9002843
name: Waardenburg Syndrome Type 2
synonym: "WAARDENBURG SYNDROME TYPE 2D" NARROW []
synonym: "WS2" EXACT []
xref: NCI:C75009
is_a: DOID:9258 ! Waardenburg syndrome
created_by: mtutaj
creation_date: 2022-07-06T10:34:10Z

[Term]
id: DOID:9002844
name: Bunion, Tailor's
def: "Abnormal swelling of the outer aspect of the fifth metatarsal head affecting the fifth METATARSOPHALANGEAL JOINT." [MESH:D050489]
synonym: "Bunionette" EXACT []
synonym: "Bunionettes" EXACT []
synonym: "Tailor's Bunions" EXACT []
synonym: "Tailors Bunion" EXACT []
xref: MESH:D050489
is_a: DOID:9004341 ! Bunion

[Term]
id: DOID:9002845
name: Astroviridae Infections
def: "Infections with ASTROVIRUS, causing gastroenteritis in human infants, calves, lambs, and piglets." [MESH:D019350]
synonym: "Astroviridae Infection" EXACT []
xref: EFO:0007158
xref: MESH:D019350
xref: RDO:0007271
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:9002846
name: bowenoid papulosis
def: "This disease is characterized by multiple maculopapular lesions that can form brownish plaques anywhere in the anogenital region. It is a rare, highly contagious sexually-transmitted infection associated with HPV-16 or other less frequent HPV subtype." [PMID:28667573]
synonym: "BP" EXACT []
is_a: DOID:1529 ! penile disease
is_a: DOID:2059 ! vulvar disease
is_a: DOID:7380 ! squamous cell papilloma of skin
is_a: DOID:9003767 ! Viral Sexually Transmitted Diseases
is_a: DOID:9007320 ! Squamous Intraepithelial Lesions
created_by: slaulede
creation_date: 2022-07-07T16:19:57Z

[Term]
id: DOID:9002847
name: Serositis
def: "Inflammation of a serous membrane." [MESH:D012700]
synonym: "Serositides" EXACT []
xref: MESH:D012700
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:9002848
name: Familial Atrial Fibrillation 9
synonym: "ATFB9" EXACT []
xref: MIM:613980
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9002850
name: Immediate Hypersensitivity
alt_id: RDO:0001896
def: "Hypersensitivity reactions which occur within minutes of exposure to challenging antigen due to the release of histamine which follows the antigen-antibody reaction and causes smooth muscle contraction and increased vascular permeability." [MESH:D006969]
synonym: "Atopic Hypersensitivities" EXACT []
synonym: "Atopic Hypersensitivity" EXACT []
synonym: "IgE-Mediated Hypersensitivities" EXACT []
synonym: "IgE Mediated Hypersensitivity" EXACT []
synonym: "Immediate Hypersensitivities" EXACT []
synonym: "Type I Hypersensitivities" EXACT []
synonym: "Type I Hypersensitivity" EXACT []
xref: MESH:D006969
is_a: DOID:1205 ! allergic disease

[Term]
id: DOID:9002851
name: Medullary Sponge Kidney
def: "A non-hereditary KIDNEY disorder characterized by the abnormally dilated (ECTASIA) medullary and inner papillary portions of the collecting ducts. These collecting ducts usually contain CYSTS or DIVERTICULA filled with jelly-like material or small calculi (KIDNEY STONES) leading to infections or obstruction. It should be distinguished from congenital or hereditary POLYCYSTIC KIDNEY DISEASES." [MESH:D007691]
synonym: "Cacchi Ricci Disease" EXACT []
synonym: "Cacchi Ricci Syndrome" EXACT []
synonym: "Medullary Sponge Kidneys" EXACT []
synonym: "Precalyceal Canalicular Ectasia" EXACT []
synonym: "Precalyceal Canalicular Ectasias" EXACT []
synonym: "Sponge Kidney" EXACT []
synonym: "Sponge Kidneys" EXACT []
xref: MESH:D007691
xref: RDO:0000163
is_a: DOID:2975 ! cystic kidney disease

[Term]
id: DOID:9002852
name: Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders
alt_id: MIM:604363
xref: MESH:C565786
is_a: DOID:150 ! disease of mental health
is_a: DOID:4448 ! macular degeneration
is_a: DOID:9005154 ! Myoclonic Epilepsies
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9002853
name: Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis
def: "An inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols." [MIM:616834]
synonym: "MCCPD" EXACT []
synonym: "MICROCEPHALY, CONGENITAL CATARACTS, AND PSORIASIFORM DERMATITIS" EXACT []
synonym: "SC4MOL DEFICIENCY" EXACT []
xref: MIM:616834
is_a: DOID:10907 ! microcephaly
is_a: DOID:2723 ! dermatitis
is_a: DOID:83 ! cataract

[Term]
id: DOID:9002854
name: Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia
synonym: "CBL mutation-associated syndrome" EXACT []
synonym: "CBL SYNDROME" EXACT []
synonym: "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" NARROW []
synonym: "NSLL" EXACT []
xref: MIM:613563
is_a: DOID:0050458 ! juvenile myelomonocytic leukemia
is_a: DOID:9003091 ! Noonan Like Syndrome

[Term]
id: DOID:9002855
name: Vascular Headaches
def: "Secondary headache disorders attributed to a variety of cranial or cervical vascular disorders, such as BRAIN ISCHEMIA; INTRACRANIAL HEMORRHAGES; and CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS." [MESH:D014653]
synonym: "Vascular Cephalgia" EXACT []
synonym: "Vascular Cephalgias" EXACT []
synonym: "Vascular Headache" EXACT []
xref: MESH:D014653
xref: RDO:0006805
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9005633 ! Headache Disorders, Secondary

[Term]
id: DOID:9002856
name: Cutaneous Telangiectasia and Cancer Syndrome, Familial
synonym: "ATR-RELATED CONDITION" BROAD []
synonym: "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" EXACT []
synonym: "FCTCS" EXACT []
xref: MIM:614564
xref: MONDO:0013806
xref: ORDO:313846
is_a: DOID:1272 ! telangiectasis
is_a: DOID:14566 ! disease of cellular proliferation
is_a: DOID:9000906 ! Oropharyngeal Neoplasms
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9002857
name: HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY
synonym: "Hypomagnesemia, Seizures, and Mental Retardation" EXACT []
xref: MIM:PS616418
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:447 ! renal tubular transport disease
created_by: mtutaj
creation_date: 2019-03-26T14:49:36Z

[Term]
id: DOID:9002858
name: Sclerema Neonatorum
def: "A severe, sometimes fatal, disorder of adipose tissue occurring chiefly in preterm or debilitated infants suffering from an underlying illness and manifested by a diffuse, nonpitting induration of the affected tissue. The skin becomes cold, yellowish, mottled, and inflexible." [MESH:D012593]
xref: MESH:D012593
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9002859
name: Parkinson's Disease 13
alt_id: RDO:0009413
synonym: "HTRA2-RELATED CONDITION" BROAD []
synonym: "PARK13" EXACT []
synonym: "Parkinson's disease 13, autosomal dominant" EXACT []
synonym: "Parkinson's Disease 13, Autosomal Dominant, Susceptibility To" RELATED []
synonym: "PARKINSON'S DISEASE 13, SUSCEPTIBILITY TO" RELATED []
synonym: "Parkinson Disease 13" EXACT []
synonym: "Parkinson disease 13, autosomal dominant" EXACT []
synonym: "Parkinson Disease 13, Autosomal Dominant, Susceptibility To" RELATED []
synonym: "PARKINSON DISEASE 13, SUSCEPTIBILITY TO" RELATED []
xref: MESH:C565204
xref: MIM:610297
xref: RDO:0013914
is_a: DOID:14330 ! Parkinson's disease

[Term]
id: DOID:9002860
name: Cardiac Edema
def: "Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME)." [MESH:D004489]
synonym: "Cardiac Edemas" EXACT []
xref: EFO:1001771
xref: MESH:D004489
is_a: DOID:6000 ! congestive heart failure
is_a: DOID:9000197 ! Edema

[Term]
id: DOID:9002861
name: Capillary Malformation-Arteriovenous Malformation 2
def: "An autosomal dominant disorder with variable expressivity. Patients have small multifocal cutaneous capillary malformations (CMs) on the head, neck, trunk, and/or extremities, sometimes in association with arteriovenous malformations (AVMs), which are typically located in the brain, face, or extremities." [MIM:618196]
synonym: "CMAVM2" EXACT []
synonym: "EPHB4-ASSOCIATED VASCULAR MALFORMATION SPECTRUM" BROAD []
synonym: "EPHB4-RELATED CONDITION" BROAD []
synonym: "EPHB4-RELATED DISORDERS" BROAD []
xref: MIM:618196
is_a: DOID:9005469 ! Capillary Malformation-Arteriovenous Malformation
created_by: slaulede
creation_date: 2019-01-11T10:13:24Z

[Term]
id: DOID:9002862
name: Craniosynostosis 3
synonym: "coronal craniosynostosis" EXACT []
synonym: "CRS3" EXACT []
xref: MIM:615314
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:9002863
name: Corneal Endothelial Cell Loss
def: "Loss of CORNEAL ENDOTHELIUM usually following intraocular surgery (e.g., cataract surgery) or due to FUCHS' ENDOTHELIAL DYSTROPHY; ANGLE-CLOSURE GLAUCOMA; IRITIS; or aging." [MESH:D055954]
synonym: "Corneal Endothelial Cell Damage" EXACT []
xref: MESH:D055954
xref: RDO:0007727
is_a: DOID:10124 ! corneal disease
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9002865
name: Neonatal Hemochromatosis
alt_id: MIM:231100
synonym: "congenital alloimmune hepatitis" EXACT []
synonym: "giant cell hepatitis" RELATED []
synonym: "idiopathic neonatal hemochromatosis" EXACT []
synonym: "neonatal hepatitis" RELATED []
synonym: "NH" EXACT []
synonym: "NHC" EXACT []
xref: GARD:7172
xref: MESH:C536394
xref: MONDO:0009275
xref: NCI:C129980
xref: ORDO:446
is_a: DOID:2352 ! hemochromatosis

[Term]
id: DOID:9002866
name: Familial Multiple Coagulation Factor Deficiency II
alt_id: MIM:134510
synonym: "F8F9D" EXACT []
synonym: "Factor VIII And Factor IX, Combined Deficiency" EXACT []
synonym: "FMFD II" EXACT []
xref: MESH:C565024
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:9002867
name: Myeloid Leukemia, Chronic-Phase
def: "The initial phase of chronic myeloid leukemia consisting of an relatively indolent period lasting from 4 to 7 years. Patients range from asymptomatic to those exhibiting ANEMIA; SPLENOMEGALY; and increased cell turnover. There are 5% or fewer blast cells in the blood and bone marrow in this phase." [MESH:D015466]
synonym: "Chronic Granulocytic Leukemia, Stable Phase" EXACT []
synonym: "Chronic Myelogenous Leukemia, Chronic Phase" EXACT []
synonym: "Chronic Myeloid Leukemia, Chronic Phase" EXACT []
synonym: "Chronic Myeloid Leukemia, Stable-Phase" EXACT []
synonym: "Granulocytic Leukemia, Chronic Phase" EXACT []
synonym: "Myelogenous Leukemia, Chronic Phase" EXACT []
synonym: "Myeloid Leukemia, Stable Phase" EXACT []
xref: MESH:D015466
is_a: DOID:8552 ! chronic myeloid leukemia

[Term]
id: DOID:9002868
name: Lactate Dehydrogenase B Deficiency
alt_id: MIM:614128
synonym: "LDHBD" EXACT []
xref: MESH:C563641
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9002869
name: Schistosomiasis Mansoni
alt_id: MIM:181460
def: "Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver." [MESH:D012555]
synonym: "Schistosoma mansoni infection" EXACT []
synonym: "Schistosoma mansoni infections" EXACT []
synonym: "schistosoma mansoni infection, susceptibility/resistance to" RELATED []
synonym: "schistosoma mansoni infectious disease" EXACT []
synonym: "schistosoma mansoni, intensity of infection by" RELATED []
synonym: "SM1" EXACT []
xref: EFO:1001420
xref: MESH:D012555
xref: NCI:C35002
is_a: DOID:0050597 ! intestinal schistosomiasis

[Term]
id: DOID:9002870
name: Oocyte/Zygote/Embryo Maturation Arrest 20
def: "A disease characterized by early embryonic arrest with fragmentation. Caused by homozygous or compound heterozygous mutation in the MOS gene on chromosome 8q12." [MIM:620383]
synonym: "OZEMA20" EXACT []
xref: MIM:620383
is_a: DOID:9007456 ! Female Infertility
created_by: mtutaj
creation_date: 2023-05-30T14:46:21Z

[Term]
id: DOID:9002871
name: Erythema Palmare Hereditarium
alt_id: MIM:133000
xref: MESH:C565041
is_a: DOID:3158 ! hand dermatosis

[Term]
id: DOID:9002872
name: Popov-Chang Syndrome
synonym: "NEDISDF" EXACT []
synonym: "neurodevelopmental disorder with impaired speech and dysmorphic features" EXACT []
synonym: "POPCHAS" EXACT []
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:92 ! speech disorder
created_by: mtutaj
creation_date: 2019-06-25T12:23:14Z

[Term]
id: DOID:9002873
name: Adrenal Incidentaloma
xref: MESH:C538238
is_a: DOID:9000362 ! Adrenal Gland Neoplasms

[Term]
id: DOID:9002874
name: Liver Fibrocystic Disease and Polydactyly
alt_id: MIM:605944
xref: MESH:C565272
is_a: DOID:1148 ! polydactyly
is_a: DOID:409 ! liver disease

[Term]
id: DOID:9002875
name: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN
def: "This disease is characterized by clinically significant pharyngeal lymphoid hypertrophy, with adenoid overgrowth, frequent upper airway infections, and sleep apnea. Macrocephaly without structural brain abnormalities is present, and patients exhibit increased weight for height as well as delayed gross motor and impaired intellectual development." [MIM:619769]
synonym: "MNDLFH" EXACT []
xref: MIM:619769
is_a: DOID:9002221 ! Hyperplasia
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2022-05-03T14:23:34Z

[Term]
id: DOID:9002876
name: Pancreatic Pseudocyst
def: "Cyst-like space not lined by EPITHELIUM and contained within the PANCREAS. Pancreatic pseudocysts account for most of the cystic collections in the pancreas and are often associated with chronic PANCREATITIS." [MESH:D010192]
synonym: "Pancreatic Pseudocysts" EXACT []
xref: MESH:D010192
is_a: DOID:9006554 ! Pancreatic Cyst

[Term]
id: DOID:9002877
name: Parkinson's Disease, Mitochondrial
alt_id: MIM:556500
synonym: "Parkinson Disease, Mitochondrial" EXACT []
xref: MESH:C564015
xref: RDO:0013117
is_a: DOID:14330 ! Parkinson's disease
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9002878
name: Cephalopelvic Disproportion
def: "A condition in which the HEAD of the FETUS is larger than the mother's PELVIS through which the fetal head must pass during a vaginal delivery." [MESH:D052178]
xref: MESH:D052178
is_a: DOID:9000610 ! Obstetric Labor Complications

[Term]
id: DOID:9002879
name: Juvenile Spring Eruption of Ears
alt_id: RDO:0015034
xref: MESH:C566781
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9002880
name: Psoas Abscess
def: "Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal." [MESH:D016659]
synonym: "Iliopsoas Abscess" EXACT []
synonym: "Iliopsoas Abscesses" EXACT []
synonym: "Psoas Abscesses" EXACT []
synonym: "Pyogenic Iliopsoas Abscess" EXACT []
synonym: "Pyogenic Iliopsoas Abscesses" EXACT []
xref: EFO:1001832
xref: MESH:D016659
is_a: DOID:9000325 ! Abscess

[Term]
id: DOID:9002881
name: Cyclic Vomiting Syndrome-Plus
synonym: "CVS-Plus" EXACT []
xref: MESH:C564023
is_a: DOID:9001580 ! Cyclic Vomiting Syndrome

[Term]
id: DOID:9002882
name: Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
alt_id: MIM:609016
synonym: "deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase" EXACT []
synonym: "deficiency of long-chain acyl-CoA dehydrogenase" EXACT []
synonym: "HADHA-RELATED CONDITION" BROAD []
synonym: "HADHA-related disorder" BROAD []
synonym: "LCHAD deficiency" EXACT []
synonym: "LCHAD deficiency with maternal acute fatty liver of pregnancy" EXACT []
synonym: "long-chain acyl-CoA dehydrogenase deficiency" EXACT []
xref: GARD:6867
xref: MESH:C535690
xref: NCI:C129929
xref: ORDO:5
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:9002883
name: Aortic Aneurysm, Giant Congenital
xref: MESH:C565758
is_a: DOID:3627 ! aortic aneurysm

[Term]
id: DOID:9002884
name: Emphysema
def: "A pathological accumulation of air in tissues or organs." [MESH:D004646]
synonym: "Emphysema, susceptibility to" RELATED []
synonym: "PI I" RELATED []
synonym: "PI M(MALTON)" RELATED []
synonym: "PI M(MINERAL SPRINGS)" RELATED []
synonym: "PI M(PROCIDA)" RELATED []
synonym: "PI NULL(Hong Kong 1)" RELATED []
synonym: "PI Q0(Hong Kong 1)" RELATED []
synonym: "PI S" RELATED []
xref: MESH:D004646
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9002885
name: Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation
alt_id: MIM:603133
xref: MESH:C566408
is_a: DOID:0060249 ! scoliosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:83 ! cataract
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9002886
name: Auditory Perceptual Disorders
def: "Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech." [MESH:D001308]
synonym: "Acoustic Perceptual Disorder" EXACT []
synonym: "Acoustic Perceptual Disorders" EXACT []
synonym: "Auditory Comprehension Disorder" EXACT []
synonym: "Auditory Comprehension Disorders" EXACT []
synonym: "Auditory Inattention" EXACT []
synonym: "Auditory Inattentions" EXACT []
synonym: "Auditory Perceptual Disorder" EXACT []
synonym: "Auditory Processing Disorder" EXACT []
synonym: "Auditory Processing Disorders" EXACT []
synonym: "Psychoacoustical Disorder" EXACT []
synonym: "Psychoacoustical Disorders" EXACT []
xref: MESH:D001308
is_a: DOID:1561 ! cognitive disorder
is_a: DOID:9004523 ! Perceptual Disorders
is_a: DOID:9008117 ! Central Auditory Diseases

[Term]
id: DOID:9002887
name: Monday Morning Fever
xref: MESH:C531641
xref: RDO:0000069
is_a: DOID:10323 ! byssinosis

[Term]
id: DOID:9002888
name: Duodenal Ulcer due to Antral G-Cell Hyperfunction
alt_id: MIM:126840
synonym: "Hypergastrinemic, hyperpepsinogenemic duodenal ulcer" EXACT []
xref: MESH:C535721
is_a: DOID:1724 ! duodenal ulcer

[Term]
id: DOID:9002889
name: Jaffer Beighton Syndrome
synonym: "Arachnodactyly, joint laxity, and spondylolisthesis" EXACT []
xref: MESH:C537561
is_a: DOID:225 ! syndrome
is_a: DOID:6682 ! spondylolisthesis
is_a: DOID:9005077 ! Joint Instability
is_a: DOID:9005367 ! Arachnodactyly

[Term]
id: DOID:9002890
name: Pseudohypoaldosteronism, Type IIA
alt_id: MIM:145260
alt_id: RDO:0013209
synonym: "Gordon hyperkalemia-hypertension syndrome" EXACT []
synonym: "PHA2A" EXACT []
xref: MESH:C564160
is_a: DOID:4479 ! pseudohypoaldosteronism

[Term]
id: DOID:9002891
name: Vitelliform Macular Dystrophy 2
alt_id: MIM:153700
synonym: "Best's disease" EXACT []
synonym: "Best disease" EXACT []
synonym: "Best macular dystrophy" EXACT []
synonym: "Best vitelliform macular dystrophy" EXACT []
synonym: "Best Vitelliform Macular Dystrophy, Multifocal" EXACT []
synonym: "BMD" EXACT []
synonym: "juvenile-onset vitelliform macular dystrophy" EXACT []
synonym: "Macular Degeneration, Polymorphic Vitelline" EXACT []
synonym: "vitelliform macular dystrophy, early onset" EXACT []
synonym: "vitelliform macular dystrophy type 2" EXACT []
synonym: "VMD2" EXACT []
xref: GARD:182
xref: MESH:C567187
is_a: DOID:0050661 ! vitelliform macular dystrophy

[Term]
id: DOID:9002892
name: Parasitic Intestinal Diseases
alt_id: RDO:0004972
def: "Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS." [MESH:D007411]
synonym: "Parasitic Intestinal Disease" EXACT []
xref: EFO:0009561
xref: MESH:D007411
is_a: DOID:1398 ! parasitic infectious disease
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:9002893
name: Taurodontia, Absent Teeth, Sparse Hair
alt_id: MIM:272980
synonym: "congenital absence of teeth with taurodontia and sparse hair" EXACT []
synonym: "Taurodontia, Absent Teeth, And Sparse Hair" EXACT []
xref: MESH:C536945
is_a: DOID:13714 ! anodontia
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:9002894
name: radiation-induced brain injury
synonym: "brain injury induced by radiation" EXACT []
xref: EFO:0009704
is_a: DOID:9000111 ! Radiation Injuries
is_a: DOID:9000998 ! Brain Injuries
created_by: slaulede
creation_date: 2022-12-29T15:58:40Z

[Term]
id: DOID:9002895
name: Tay-Sachs Disease, Pseudo-AB Variant
xref: MESH:C564786
xref: RDO:0013632
is_a: DOID:3320 ! Tay-Sachs disease

[Term]
id: DOID:9002896
name: Follicular Hamartoma, Alopecia, Cystic Fibrosis
alt_id: RDO:0002839
synonym: "Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis" EXACT []
xref: MESH:C537071
is_a: DOID:1485 ! cystic fibrosis
is_a: DOID:9007253 ! Hamartoma
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9002897
name: Erythremia, Beta-Globin Type
xref: MESH:C564193
is_a: DOID:8997 ! polycythemia vera

[Term]
id: DOID:9002898
name: Cerebral Ventricle Neoplasms
def: "Neoplasms located in the brain ventricles, including the two lateral, the third, and the fourth ventricle. Ventricular tumors may be primary (e.g., CHOROID PLEXUS NEOPLASMS and GLIOMA, SUBEPENDYMAL), metastasize from distant organs, or occur as extensions of locally invasive tumors from adjacent brain structures." [MESH:D002551]
synonym: "Brain Ventricular Neoplasm" EXACT []
synonym: "Brain Ventricular Neoplasms" EXACT []
synonym: "Brain Ventricular Tumor" EXACT []
synonym: "Brain Ventricular Tumors" EXACT []
synonym: "Cerebral Ventricle Neoplasm" EXACT []
synonym: "Cerebral Ventricle Tumor" EXACT []
synonym: "Cerebral Ventricle Tumors" EXACT []
synonym: "Cerebroventricular Neoplasm" EXACT []
synonym: "Cerebroventricular Neoplasms" EXACT []
synonym: "Intraventricular Neoplasm" EXACT []
synonym: "Intraventricular Neoplasms" EXACT []
xref: MESH:D002551
is_a: DOID:9007502 ! Brain Neoplasms

[Term]
id: DOID:9002899
name: Mesothelial Neoplasms
alt_id: RDO:0006122
def: "Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed)" [MESH:D018301]
synonym: "Mesothelial Neoplasm" EXACT []
xref: EFO:1001044
xref: MESH:D018301
is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms

[Term]
id: DOID:9002900
name: Autosomal Dominant Tubulointerstitial Kidney Disease 2
alt_id: MIM:174000
synonym: "ADMCKD1" EXACT []
synonym: "ADTKD2" EXACT []
synonym: "AUTOSOMAL DOMINANT MEDULLARY CYSTIC KIDNEY DISEASE WITH OR WITHOUT HYPERURICEMIA" EXACT []
synonym: "MCKD" EXACT []
synonym: "MCKD1" EXACT []
synonym: "Medullary cystic kidney disease 1" EXACT []
synonym: "Medullary cystic kidney disease, autosomal dominant" EXACT []
synonym: "MUC1-RELATED CONDITION" EXACT []
synonym: "Polycystic kidneys, medullary type" EXACT []
synonym: "TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2" EXACT []
xref: MESH:C536137
is_a: DOID:0060062 ! familial juvenile hyperuricemic nephropathy

[Term]
id: DOID:9002901
name: Ovarian Fibromata
alt_id: MIM:166970
synonym: "Hereditary ovarian fibroma tumors" NARROW []
xref: MESH:C562391
is_a: DOID:0050871 ! fibroma
is_a: DOID:9002762 ! Ovarian Neoplasms

[Term]
id: DOID:9002902
name: Sulfatidosis
def: "A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-containing lipids (SULFATIDES), including SULFOGLYCOSPHINGOLIPIDS normally found in the MYELIN SHEATH of the brain. These disorders are caused by defective degradative enzymes leading to substrate accumulation (or storage)." [MESH:D052516]
synonym: "Sulfatidoses" EXACT []
xref: MESH:D052516
is_a: DOID:1927 ! sphingolipidosis

[Term]
id: DOID:9002903
name: Tuftsin Deficiency
alt_id: MIM:191150
xref: MESH:C562872
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9002904
name: Primitive Neuroectodermal Tumors
def: "A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059)" [MESH:D018242]
synonym: "Medulloepithelioma" EXACT []
synonym: "medulloepitheliomas" EXACT []
synonym: "PNET" EXACT []
synonym: "PNETs" EXACT []
synonym: "Primitive Neuroectodermal Tumor" EXACT []
synonym: "Primitive Neuroepithelial Neoplasm" EXACT []
synonym: "Primitive Neuroepithelial Neoplasms" EXACT []
synonym: "Primitive Neuroepithelial Tumor" EXACT []
synonym: "primitive neuroepithelial tumors" EXACT []
synonym: "spongioblastoma" EXACT []
synonym: "spongioblastomas" EXACT []
xref: MESH:D018242
is_a: DOID:7305 ! astroblastoma

[Term]
id: DOID:9002905
name: EDICT Syndrome
synonym: "EDICT" EXACT []
synonym: "ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME" EXACT []
synonym: "familial keratoconus with early-onset anterior polar cataract" EXACT []
synonym: "KERATOCONUS WITH CATARACT" EXACT []
synonym: "KTCNCT" EXACT []
xref: MIM:614303
is_a: DOID:10126 ! keratoconus
is_a: DOID:225 ! syndrome
is_a: DOID:240 ! iris disease
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:83 ! cataract

[Term]
id: DOID:9002906
name: Multiple Organ Failure
def: "A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative." [MESH:D009102]
synonym: "INFANT ONSET MULTIPLE ORGAN FAILURE" NARROW []
synonym: "MODS" EXACT []
synonym: "MOFS" EXACT []
synonym: "Multiple Organ Dysfunction Syndrome" EXACT []
synonym: "Multiple Organ Failures" EXACT []
synonym: "multiple organ failure syndrome" EXACT []
xref: EFO:1001373
xref: MESH:D009102
xref: RDO:0006148
is_a: DOID:9002549 ! Shock

[Term]
id: DOID:9002907
name: Sinus Arrhythmia
alt_id: RDO:0004907
def: "Irregular HEART RATE caused by abnormal function of the SINOATRIAL NODE. It is characterized by a greater than 10% change between the maximum and the minimum sinus cycle length or 120 milliseconds." [MESH:D001146]
synonym: "Sinoatrial Arrhythmia" EXACT []
synonym: "Sinoatrial Arrhythmias" EXACT []
synonym: "Sinus Arrhythmias" EXACT []
xref: MESH:D001146
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:9002908
name: Acute Eosinophilic Leukemia
alt_id: RDO:0006886
def: "A rare acute myeloid leukemia characterized by abnormal EOSINOPHILS in the bone marrow." [MESH:D015472]
synonym: "Acute Eosinophilic Leukemias" EXACT []
xref: MESH:D015472
is_a: DOID:9005977 ! eosinophilic leukemia
is_a: DOID:9119 ! acute myeloid leukemia

[Term]
id: DOID:9002909
name: Oxygen-Induced Retinopathy
def: "A noninflammatory disorder of the retina, involving neuronal damage induced by hypoxic conditions, that is a widely used animal model of retinopathy of prematurity (ROP)." []
synonym: "OIP" EXACT []
synonym: "OIR" EXACT [PMID:20010791]
xref: RDO:9000037
is_a: DOID:13025 ! retinopathy of prematurity

[Term]
id: DOID:9002910
name: Hearing Loss, Noise-Induced
alt_id: MIM:613035
def: "Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz." [MESH:D006317]
synonym: "Acoustic Trauma" EXACT []
synonym: "Noise-induced hearing loss, association with" RELATED []
synonym: "Noise-induced hearing loss, susceptibility to" RELATED []
xref: EFO:1001254
xref: EFO:1001338
xref: MESH:D006317
is_a: DOID:10003 ! sensorineural hearing loss

[Term]
id: DOID:9002911
name: Ruvalcaba Syndrome
alt_id: MIM:180870
xref: MESH:C579395
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9006161 ! Osteochondritis
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9002912
name: Fanconi Anemia Complementation Group M
synonym: "FANCM" EXACT []
is_a: DOID:13636 ! Fanconi anemia

[Term]
id: DOID:9002913
name: Parturient Paresis
def: "A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes." [MESH:D010319]
synonym: "Animal Milk Fever" EXACT []
synonym: "Parturient Pareses" EXACT []
xref: MESH:D010319
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9002914
name: Familial Sudden Death
synonym: "SUDDEN UNEXPLAINED DEATH IN CHILDHOOD" NARROW []
xref: MESH:C566172
xref: RDO:0014610
is_a: DOID:9007820 ! Sudden Death

[Term]
id: DOID:9002915
name: Ichthyosis with Erythrokeratoderma
def: "An autosomal dominant disorder of cornification characterized by abnormal desquamation in addition to erythematous hyperkeratotic plaques or patches. Caused by heterozygous mutation in the KLK11 gene on chromosome 19q13." [MIM:620507]
synonym: "IEKD" EXACT []
xref: MIM:620507
is_a: DOID:1697 ! ichthyosis
created_by: mtutaj
creation_date: 2023-09-22T10:01:15Z

[Term]
id: DOID:9002916
name: Hyperphagia
def: "Ingestion of a greater than optimal quantity of food." [MESH:D006963]
synonym: "Overeating" EXACT []
synonym: "Polyphagia" EXACT []
synonym: "Polyphagias" EXACT []
xref: MESH:D006963
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:9002917
name: Familial Progressive Supranuclear Palsy
alt_id: RDO:0004507
xref: MESH:C538572
is_a: DOID:678 ! progressive supranuclear palsy

[Term]
id: DOID:9002919
name: Sudden Unexpected Nocturnal Death Syndrome
xref: MESH:C531638
is_a: DOID:0050451 ! Brugada syndrome
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9002920
name: Bullous Dystrophy, Hereditary Macular Type
alt_id: MIM:302000
synonym: "EBM" EXACT []
synonym: "Epidermolysis Bullosa, Macular Type" EXACT []
xref: MESH:C563065
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:2730 ! epidermolysis bullosa
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9002921
name: Holoprosencephaly, Recurrent Infections, and Monocytosis
alt_id: MIM:610680
xref: MESH:C538328
is_a: DOID:4621 ! holoprosencephaly
is_a: DOID:9001039 ! Leukocytosis

[Term]
id: DOID:9002922
name: Pseudoarylsulfatase A Deficiency
xref: MESH:C565403
is_a: DOID:10581 ! metachromatic leukodystrophy

[Term]
id: DOID:9002923
name: Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones
alt_id: MIM:608154
xref: MESH:C564283
is_a: DOID:0050585 ! congenital generalized lipodystrophy
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9002924
name: Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations
xref: MESH:C566153
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9003443 ! Central Nervous System Vascular Malformations

[Term]
id: DOID:9002925
name: Narcolepsy 1
alt_id: MIM:161400
synonym: "Narcoleptic Syndrome 1" EXACT []
synonym: "NARCOLEPTIC SYNDROME 1  CATAPLEXY" NARROW []
synonym: "NRCLP1" EXACT []
synonym: "Type 1 narcolepsy" EXACT []
xref: MESH:C563534
is_a: DOID:8986 ! narcolepsy

[Term]
id: DOID:9002926
name: Galloway-Mowat Syndrome 10
def: "A severe autosomal recessive disorder characterized by onset of symptoms soon after birth (progressive renal dysfunction with proteinuria associated with diffuse mesangial sclerosis). Caused by homozygous or compound heterozygous mutation in the YRDC gene on chromosome 1p34." [MIM:619609]
synonym: "GAMOS10" EXACT []
xref: MIM:619609
is_a: DOID:0080694 ! Galloway-Mowat syndrome
created_by: mtutaj
creation_date: 2021-11-15T12:12:58Z

[Term]
id: DOID:9002927
name: Neck Injuries
def: "General or unspecified injuries to the neck. It includes injuries to the skin, muscles, and other soft tissues of the neck." [MESH:D019838]
synonym: "Neck Injury" EXACT []
xref: EFO:0009476
xref: MESH:D019838
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9002928
name: Colonic Neoplasms
def: "Tumors of the COLON." [MESH:D003110]
synonym: "colonic neoplasm" EXACT []
synonym: "colonic tumor" EXACT []
synonym: "colon neoplasm" EXACT []
synonym: "colon neoplasms" EXACT []
synonym: "neoplasm of colon" EXACT []
xref: EFO:0004288
xref: EFO:1000187
xref: MESH:D003110
is_a: DOID:9008443 ! Colorectal Neoplasms

[Term]
id: DOID:9002929
name: Obturator Hernia
def: "A pelvic hernia through the obturator foramen, a large aperture in the hip bone normally covered by a membrane. Obturator hernia can lead to intestinal incarceration and INTESTINAL OBSTRUCTION." [MESH:D006553]
synonym: "Obturator Hernias" EXACT []
xref: MESH:D006553
is_a: DOID:1283 ! enterocele

[Term]
id: DOID:9002930
name: Retinoblastoma-Related Osteosarcoma
alt_id: RDO:0014989
xref: MESH:C566714
is_a: DOID:3347 ! osteosarcoma
is_a: DOID:768 ! retinoblastoma

[Term]
id: DOID:9002931
name: Chondrocalcinosis due to Apatite Crystal Deposition
alt_id: MIM:118610
synonym: "Familial Apatite disease" EXACT []
xref: MESH:C535939
is_a: DOID:1156 ! chondrocalcinosis

[Term]
id: DOID:9002932
name: Hairy Elbows
alt_id: MIM:139600
synonym: "Hypertrichosis cubiti" EXACT []
synonym: "Hypertrichosis cubiti short stature" EXACT []
synonym: "MacDermot Patton Williams syndrome" EXACT []
xref: MESH:C535618
is_a: DOID:420 ! hypertrichosis
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9002933
name: Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia 
def: "NEDIDHA is caused by homozygous or compound heterozygous mutation in the DOCK3 gene (603123) on chromosome 3p21. (OMIM)" []
synonym: "NEDIDHA" EXACT []
xref: MIM:618292
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: mtutaj
creation_date: 2019-02-26T08:49:31Z

[Term]
id: DOID:9002934
name: Chromosome 7, Monosomy 7q2
synonym: "Deletion 7q2" EXACT []
synonym: "Monosomy 7q2" EXACT []
xref: MESH:C537815
xref: RDO:0003719
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9002935
name: Chitayat Moore Del Bigio Syndrome
xref: MESH:C535927
is_a: DOID:225 ! syndrome
is_a: DOID:2785 ! Dandy-Walker syndrome
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9002936
name: Bile Duct Neoplasms
def: "Tumors or cancer of the BILE DUCTS." [MESH:D001650]
synonym: "bile duct neoplasm" EXACT []
xref: MESH:D001650
is_a: DOID:0050625 ! biliary tract benign neoplasm
is_a: DOID:4138 ! bile duct disease

[Term]
id: DOID:9002937
name: Child Nutrition Disorders
def: "Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in children ages 2 to 12 years." [MESH:D015362]
synonym: "Child Malnutrition" EXACT []
synonym: "Child Nutrition Disorder" EXACT []
synonym: "Child Overnutrition" EXACT []
synonym: "Malnutrition in Children" EXACT []
xref: MESH:D015362
is_a: DOID:374 ! nutrition disease

[Term]
id: DOID:9002938
name: Harding Ataxia
alt_id: MIM:212895
synonym: "Ataxia, harding type" EXACT []
synonym: "Cerebellar ataxia early onset with retained tendon reflex" EXACT []
synonym: "Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes" EXACT []
xref: MESH:C535633
is_a: DOID:0050753 ! cerebellar ataxia

[Term]
id: DOID:9002939
name: Wright Dyck Syndrome
synonym: "Hearing loss ankle anomalies and neurological regression-dementia" EXACT []
synonym: "Sensory neuropathy with deafness and dementia" EXACT []
xref: MESH:C536749
xref: RDO:0002426
is_a: DOID:1307 ! dementia
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9002941
name: Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate
alt_id: MIM:609250
synonym: "Marie Unna-Like Scalp Hypotrichosis" EXACT []
xref: MESH:C563765
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:674 ! cleft palate
is_a: DOID:9000584 ! Onycholysis
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9002942
name: Abdominal Chemodectomas with Cutaneous Angiolipomas
alt_id: MIM:118350
synonym: "Familial abdominal chemodectomas with cutaneous angiolipomas" EXACT []
synonym: "Intraabdominal chemodectoma with cutaneous angiolipomas" EXACT []
xref: MESH:C535552
is_a: DOID:0050773 ! paraganglioma
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:9002944
name: Hyperzincemia and Hypercalprotectinemia
xref: MESH:C565988
xref: RDO:0014479
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:9002945
name: Tremor of Intention, Ataxia, and Lipofuscinosis
alt_id: MIM:190200
xref: MESH:C566038
is_a: DOID:9000495 ! Tremor
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:9002946
name: Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia
alt_id: MIM:604382
xref: MESH:C565781
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:674 ! cleft palate

[Term]
id: DOID:9002947
name: Aicardi-Goutieres Syndrome 9
def: "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Caused by compound heterozygous mutation in the RNU7-1 gene on chromosome 12p13. (OMIM)" []
synonym: "AGS9" EXACT []
xref: MIM:619487
is_a: DOID:0050629 ! Aicardi-Goutieres syndrome
created_by: mtutaj
creation_date: 2021-08-25T10:44:49Z

[Term]
id: DOID:9002948
name: Storm Syndrome
alt_id: MIM:185069
xref: MESH:C566109
is_a: DOID:182 ! calcinosis
is_a: DOID:225 ! syndrome
is_a: DOID:4079 ! heart valve disease
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9002949
name: Dyskinesia with Orofacial Involvement, Autosomal Recessive
def: "This disease is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade." [MIM:619647]
synonym: "Autosomal recessive dyskinesia with orofacial involvement" EXACT []
synonym: "DSKOR" EXACT []
xref: MIM:619647
is_a: DOID:9007924 ! Dyskinesia with Orofacial Involvement
created_by: slaulede
creation_date: 2022-02-04T14:10:47Z

[Term]
id: DOID:9002950
name: Camera Marugo Cohen Syndrome
alt_id: MIM:604257
xref: MESH:C537964
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9005532 ! Muscle Weakness
is_a: DOID:9006496 ! Lordosis
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9002951
name: Primary Autosomal Recessive Microcephaly 27
def: "Characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Caused by heterozygous mutation in the LMNB2 gene on chromosome 19p13. (OMIM)" []
synonym: "MCPH27" EXACT []
synonym: "MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT" RELATED []
xref: MIM:619180
is_a: DOID:0070296 ! primary autosomal recessive microcephaly
created_by: mtutaj
creation_date: 2021-02-22T17:34:14Z

[Term]
id: DOID:9002953
name: Escherichia Coli Infections
def: "Infections with bacteria of the species ESCHERICHIA COLI." [MESH:D004927]
synonym: "E coli Infection" EXACT []
synonym: "E coli Infections" EXACT []
synonym: "Escherichia coli Infection" EXACT []
xref: EFO:1001318
xref: MESH:D004927
xref: RDO:0005534
is_a: DOID:9003491 ! Enterobacteriaceae Infections

[Term]
id: DOID:9002954
name: Microcephalic Osteodysplastic Primordial Dwarfism
synonym: "MOPD" EXACT []
is_a: DOID:10907 ! microcephaly
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9002231 ! Fetal Growth Retardation
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9002955
name: Nerve Degeneration
def: "Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways." [MESH:D009410]
synonym: "Nerve Degenerations" EXACT []
synonym: "Neuron Degeneration" EXACT []
synonym: "Neuron Degenerations" EXACT []
synonym: "striatal degeneration" RELATED []
xref: MESH:D009410
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9002956
name: X-Linked Intellectual Developmental Disorder 95
alt_id: MIM:300716
synonym: "MRX95" EXACT []
synonym: "XLID95" EXACT []
synonym: "X-linked mental retardation 95" EXACT []
xref: MESH:C567470
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9002957
name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO
def: "Carbonic anhydrase VA deficiency (CA5AD) is an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation shows multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities include hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder shows a relatively benign course. Treatment with carglumic acid can result in neurologic improvement. CA5AD is caused by homozygous mutation in the CA5A gene on chromosome 16q24. (OMIM)" []
synonym: "CA5AD" EXACT []
xref: MIM:615751
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9008972 ! Hyperammonemia

[Term]
id: DOID:9002958
name: Solitary Fibrous Tumors
def: "Rare neoplasms of mesenchymal origin, usually benign, and most commonly involving the PLEURA (see SOLITARY FIBROUS TUMOR, PLEURAL). They also are found in extrapleural sites." [MESH:D054364]
synonym: "Dedifferentiated Solitary Fibrous Tumor" NARROW []
synonym: "Solitary Fibrous Tumor" EXACT []
xref: EFO:1000214
xref: MESH:D054364
xref: RDO:0007671
is_a: DOID:0050871 ! fibroma

[Term]
id: DOID:9002959
name: Deficient N-Hydroxylation of Amobarbital
alt_id: MIM:204800
xref: MESH:C565959
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9002960
name: Impacted Tooth
alt_id: MIM:308280
def: "A tooth that is prevented from erupting by a physical barrier, usually other teeth. Impaction may also result from orientation of the tooth in an other than vertical position in the periodontal structures." [MESH:D014095]
synonym: "Impacted Teeth" EXACT []
xref: MESH:D014095
is_a: DOID:1091 ! tooth disease

[Term]
id: DOID:9002961
name: Upington Disease
alt_id: MIM:191520
synonym: "Familial dyschondroplasia" EXACT []
synonym: "Perthes-like hip disease, enchondromata, and ecchondromata" EXACT []
xref: MESH:C536472
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9002962
name: Adams-Oliver Syndrome 2
synonym: "AOS2" EXACT []
synonym: "DOCK6-RELATED CONDITION" EXACT []
xref: MIM:614219
is_a: DOID:0060227 ! Adams-Oliver syndrome

[Term]
id: DOID:9002963
name: Autosomal Recessive Intellectual Developmental Disorder 78
def: "A neurodevelopmental disorder characterized by impaired intellectual development that is usually mild, but shows variable severity. Caused by homozygous or compound heterozygous mutation in the WDR11 gene on chromosome 10q26." [MIM:620237]
synonym: "MRT78" EXACT []
xref: MIM:620237
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2023-02-10T09:08:58Z

[Term]
id: DOID:9002964
name: Chronic Idiopathic Polyhydramnios
alt_id: MIM:263610
synonym: "lactogen receptor defect of chorion" EXACT []
xref: MESH:C564876
is_a: DOID:8488 ! polyhydramnios

[Term]
id: DOID:9002965
name: Cerebrospinal Fluid Leak
def: "Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA)." [MESH:D065634]
synonym: "Cerebrospinal Fluid Drainage" EXACT []
synonym: "Cerebrospinal Fluid Drainage, Post Traumatic" EXACT []
synonym: "Cerebrospinal Fluid Drainages" EXACT []
synonym: "Cerebrospinal Fluid Drainage, Spontaneous" EXACT []
synonym: "Cerebrospinal Fluid Drainage, Traumatic" EXACT []
synonym: "Cerebrospinal Fluid Leakage" EXACT []
synonym: "Cerebrospinal Fluid Leakage, Post Traumatic" EXACT []
synonym: "Cerebrospinal Fluid Leakages" EXACT []
synonym: "Cerebrospinal Fluid Leakage, Spontaneous" EXACT []
synonym: "Cerebrospinal Fluid Leakage, Traumatic" EXACT []
synonym: "Cerebrospinal Fluid Leak, Post Traumatic" EXACT []
synonym: "Cerebrospinal Fluid Leaks" EXACT []
synonym: "Cerebrospinal Fluid Leak, Spontaneous" EXACT []
synonym: "Cerebrospinal Fluid Leak, Traumatic" EXACT []
synonym: "Spinal Cerebrospinal Fluid Leak" EXACT []
synonym: "Spinal Cerebrospinal Fluid Leak, Post Traumatic" EXACT []
synonym: "Spinal Cerebrospinal Fluid Leak, Spontaneous" EXACT []
synonym: "Spinal Cerebrospinal Fluid Leak, Traumatic" EXACT []
xref: MESH:D065634
xref: RDO:0015954
is_a: DOID:9003814 ! Neurologic Manifestations
is_a: DOID:9007621 ! Craniocerebral Trauma

[Term]
id: DOID:9002966
name: Traumatic Amputation
def: "Loss of a limb or other bodily appendage by accidental injury." [MESH:D000673]
synonym: "Traumatic Amputations" EXACT []
xref: MESH:D000673
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9002967
name: Chondrodysplasia Punctata with Coagulation Factor Deficiency
xref: MESH:C564742
xref: RDO:0013603
is_a: DOID:2581 ! chondrodysplasia punctata
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:9002968
name: Muscular Dystrophy, Barnes Type
alt_id: MIM:158800
alt_id: RDO:0012783
xref: MESH:C563558
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9002969
name: Nevus
def: "A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin." [MESH:D009506]
synonym: "atypical mole" NARROW []
synonym: "dysplastic nevus" NARROW []
synonym: "Nevi" EXACT []
synonym: "Skin Mole" EXACT []
synonym: "Skin Moles" EXACT []
xref: EFO:0000625
xref: EFO:0004200
xref: MESH:D009506
xref: RDO:0005418
is_a: DOID:9005825 ! Nevi and Melanomas

[Term]
id: DOID:9002970
name: Tetralogy of Fallot and Glaucoma
alt_id: MIM:187501
synonym: "familial tetralogy of Fallot and glaucoma" EXACT []
xref: MESH:C536501
is_a: DOID:1686 ! glaucoma
is_a: DOID:6419 ! tetralogy of Fallot

[Term]
id: DOID:9002971
name: Myxomatous Mitral Valve Prolapse 2
alt_id: MIM:607829
synonym: "DCHS1-RELATED CONDITION" BROAD []
synonym: "DCHS1-RELATED DISORDER" BROAD []
synonym: "MITRAL VALVE PROLAPSE 2" EXACT []
synonym: "MITRAL VALVE PROLAPSE, MYXOMATOUS 2" EXACT []
synonym: "MMVP2" EXACT []
synonym: "MVP2" EXACT []
xref: MESH:C564326
is_a: DOID:988 ! mitral valve prolapse

[Term]
id: DOID:9002972
name: Trichilemmal Cyst
alt_id: MIM:609649
synonym: "pilar cyst" EXACT []
synonym: "pilar cysts" EXACT []
synonym: "tricholemmal cyst 1" EXACT []
synonym: "TRICY1" EXACT []
xref: MESH:C566458
is_a: DOID:9005841 ! Epidermal Cyst

[Term]
id: DOID:9002973
name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 10
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10" EXACT []
synonym: "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7" EXACT []
synonym: "IIAE10" EXACT []
xref: MIM:619396
is_a: DOID:936 ! brain disease
created_by: mtutaj
creation_date: 2022-11-14T12:15:52Z

[Term]
id: DOID:9002974
name: Weismann Netter Syndrome
alt_id: MIM:112350
synonym: "Anterior bowing of legs with dwarfism" EXACT []
synonym: "Toxopachyosteose diaphysaire tibio-peroniere" EXACT []
synonym: "Toxopachyosteosis" EXACT []
synonym: "Toxopachyoteose diaphysaire tibio peroniere" EXACT []
synonym: "Weismann Netter Stuhl syndrome" EXACT []
xref: MESH:C537082
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004552 ! Genu Varum

[Term]
id: DOID:9002975
name: Familial Cardiac Lipidosis
alt_id: MIM:212080
xref: MESH:C565884
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:9002976
name: Duplication of Eyebrows with Stretchable Skin and Syndactyly
alt_id: MIM:227210
xref: MESH:C536383
is_a: DOID:11193 ! syndactyly
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9002977
name: Ergotism
def: "Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine." [MESH:D004881]
synonym: "Ergotisms" EXACT []
synonym: "Ergot Poisoning" EXACT []
synonym: "Ergot Poisonings" EXACT []
synonym: "Saint Anthony's Fire" EXACT []
synonym: "Saint Anthony Fire" EXACT []
synonym: "Saint Anthonys Fire" EXACT []
synonym: "St. Anthony's Fire" EXACT []
synonym: "St. Anthony Fire" EXACT []
synonym: "St. Anthonys Fire" EXACT []
xref: MESH:D004881
is_a: DOID:9002606 ! Mycotoxicosis

[Term]
id: DOID:9002978
name: Varicella Zoster Encephalitis
alt_id: RDO:0007433
def: "Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)" [MESH:D020804]
synonym: "Encephalitis, Human Herpesvirus 3" EXACT []
synonym: "Encephalitis, VZ Virus" EXACT []
synonym: "Herpes Zoster Encephalitis" EXACT []
synonym: "Herpes Zoster Meningoencephalitis" EXACT []
synonym: "Varicella Encephalitides" EXACT []
synonym: "Varicella Encephalitis" EXACT []
xref: EFO:1001310
xref: MESH:D020804
is_a: DOID:646 ! viral encephalitis
is_a: DOID:9004668 ! Varicella Zoster infection

[Term]
id: DOID:9002979
name: Anal Atresia, Hypospadias, and Penoscrotal Inversion
alt_id: MIM:602553
xref: MESH:C566526
is_a: DOID:10488 ! imperforate anus
is_a: DOID:10892 ! hypospadias

[Term]
id: DOID:9002980
name: Velofacioskeletal Syndrome
alt_id: MIM:600736
xref: MESH:C536536
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002981
name: Genomic Instability
def: "An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional." [MESH:D042822]
synonym: "Genome Instabilities" EXACT []
synonym: "Genome Instability" EXACT []
synonym: "Genome Stabilities" EXACT []
synonym: "Genome Stability" EXACT []
synonym: "Genomic Instabilities" EXACT []
synonym: "Genomic Stabilities" EXACT []
synonym: "Genomic Stability" EXACT []
xref: MESH:D042822
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9002982
name: Autosomal Dominant Nonsyndromic Deafness 81
def: "Characterized by postlingual onset of slowly progressive sensorineural hearing loss. Caused by heterozygous mutation in the ELMOD3 gene on chromosome 2p11. (OMIM)" []
synonym: "autosomal dominant deafness 81" EXACT []
synonym: "DFNA81" EXACT []
xref: MIM:619500
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2021-08-26T11:44:32Z

[Term]
id: DOID:9002983
name: Distal Arthrogryposis, Type 2E
alt_id: MIM:121070
synonym: "Contractures of fingers and jaw" EXACT []
xref: MESH:C535384
is_a: DOID:9006523 ! Distal Arthrogryposis Type 2

[Term]
id: DOID:9002984
name: Malabsorption Syndromes
def: "General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients." [MESH:D008286]
synonym: "Malabsorption Syndrome" EXACT []
xref: EFO:0009554
xref: MESH:D008286
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:225 ! syndrome
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:9002986
name: Hapnes Boman Skeie Syndrome
xref: MESH:C536960
is_a: DOID:225 ! syndrome
is_a: DOID:3153 ! lipomatosis
is_a: DOID:9004079 ! Angiomatosis
is_a: DOID:9007429 ! Soft Tissue Neoplasms

[Term]
id: DOID:9002987
name: Togaviridae Infections
def: "Virus diseases caused by the TOGAVIRIDAE." [MESH:D014036]
synonym: "Togaviridae Disease" EXACT []
synonym: "Togaviridae Diseases" EXACT []
synonym: "Togaviridae Infection" EXACT []
synonym: "Togaviridae infectious disease" EXACT []
synonym: "Togavirus Infection" EXACT []
synonym: "Togavirus Infections" EXACT []
xref: EFO:0007513
xref: MESH:D014036
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:9002988
name: Orbital Myositis
def: "Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." [MESH:D055622]
synonym: "orbital myositides" EXACT []
xref: EFO:1001819
xref: MESH:D055622
is_a: DOID:633 ! myositis
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:9002989
name: Vasoplegia
def: "Condition of low SYSTEMIC VASCULAR RESISTANCE that develops secondary to other conditions such as ANAPHYLAXIS; SEPSIS; SURGICAL SHOCK; and SEPTIC SHOCK. Vasoplegia that develops during or post surgery (e.g., CARDIOPULMONARY BYPASS) is called postoperative vasoplegic syndrome or vasoplegic syndrome." [MESH:D056987]
synonym: "Post operative Vasoplegic Syndrome" EXACT []
synonym: "Postoperative Vasoplegic Syndrome" EXACT []
synonym: "Post-operative Vasoplegic Syndromes" EXACT []
synonym: "Vasoplegias" EXACT []
synonym: "Vasoplegic Syndrome" EXACT []
xref: MESH:D056987
is_a: DOID:178 ! vascular disease
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9002990
name: Familial Atrial Fibrillation 17
comment: is part of OMIM:611819, LQT10
synonym: "ATFB17" EXACT []
is_a: DOID:0050650 ! familial atrial fibrillation
is_a: DOID:0110651 ! long QT syndrome 10
created_by: mtutaj
creation_date: 2019-03-15T13:03:31Z

[Term]
id: DOID:9002991
name: Keutel Syndrome
alt_id: MIM:245150
synonym: "KTLS" EXACT []
synonym: "Pulmonic stenosis, brachytelephalangism, and calcification of cartilages" EXACT []
xref: MESH:C536167
is_a: DOID:1222 ! cartilage disease
is_a: DOID:182 ! calcinosis
is_a: DOID:225 ! syndrome
is_a: DOID:6420 ! pulmonary valve stenosis
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9002992
name: Nematode Infections
def: "Infections by nematodes, general or unspecified." [MESH:D009349]
synonym: "Nematoda infectious disease" EXACT []
synonym: "Nematode Infection" EXACT []
xref: EFO:0007391
xref: MESH:D009349
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:9002993
name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH
def: "This disease is an autosomal recessive disorder with a highly variable phenotype. Most patients develop significant gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. The disorder appears to comprise a continuum of evolving neurologic manifestations." [MIM:619323]
synonym: "NEDSGO" EXACT []
xref: MIM:619323
is_a: DOID:1826 ! epilepsy
is_a: DOID:3086 ! gingival overgrowth
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2021-08-16T15:42:39Z

[Term]
id: DOID:9002994
name: Pyruvate Metabolism, Inborn Errors
def: "Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders." [MESH:D015323]
xref: MESH:D015323
xref: RDO:0001760
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:9002995
name: Conductive Stapedial Deafness with Ear Malformation and Facial Palsy
alt_id: MIM:124490
xref: MESH:C565123
is_a: DOID:1756 ! facial nerve disease
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9002996
name: Familial Atrial Fibrillation 13
synonym: "ATFB13" EXACT []
xref: MIM:615377
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9002997
name: Glossoptosis
def: "Posterior displacement of the TONGUE toward the PHARYNX. It is often a feature in syndromes such as in PIERRE ROBIN SYNDROME and DOWN SYNDROME and associated with AIRWAY OBSTRUCTION during sleep (OBSTRUCTIVE SLEEP APNEAS)." [MESH:D065710]
synonym: "Glossoptoses" EXACT []
xref: MESH:D065710
is_a: DOID:10944 ! tongue disease

[Term]
id: DOID:9002998
name: Weill-Marchesani Syndrome 1
def: "This disease is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma," [MIM:277600]
synonym: "ADAMTS10-RELATED CONDITION" EXACT []
synonym: "WMS1" EXACT []
xref: MIM:277600
is_a: DOID:0050475 ! Weill-Marchesani syndrome
created_by: mtutaj
creation_date: 2019-12-30T10:38:50Z

[Term]
id: DOID:9002999
name: Microphthalmia/Coloboma 7
synonym: "Isolated Microphthalmia with Coloboma 7" EXACT []
synonym: "MCOPC7" EXACT []
synonym: "MCOPCB7" EXACT []
xref: MIM:614497
is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma

[Term]
id: DOID:9003000
name: Asthenia
def: "Clinical sign or symptom manifested as debility, or lack or loss of strength and energy." [MESH:D001247]
synonym: "Asthenias" EXACT []
xref: EFO:0007625
xref: MESH:D001247
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9003001
name: indeterminate colitis
def: "This pertains to colitis patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." [EFO:1000034]
synonym: "colitis of indeterminate type" EXACT []
xref: EFO:1000034
is_a: DOID:0060180 ! colitis
created_by: slaulede
creation_date: 2023-02-02T14:51:29Z

[Term]
id: DOID:9003002
name: Fetal Resorption
def: "The disintegration and assimilation of the dead FETUS in the UTERUS at any stage after the completion of organogenesis which, in humans, is after the 9th week of GESTATION. It does not include embryo resorption (see EMBRYO LOSS)." [MESH:D005327]
synonym: "Fetal Resorptions" EXACT []
xref: MESH:D005327
is_a: DOID:9001916 ! Fetal Death

[Term]
id: DOID:9003003
name: Skin and Connective Tissue Diseases
def: "A collective term for diseases of the skin and its appendages and of connective tissue." []
xref: MESH:D017437
is_a: DOID:7 ! disease of anatomical entity

[Term]
id: DOID:9003004
name: MICROMELIA
def: "This developmental disease results in the presence of abnormally small extremities." [HP:0002983, MP:0008736]
synonym: "nanomelia" EXACT []
synonym: "Smaller or shorter than typical limbs" EXACT []
is_a: DOID:0080006 ! bone development disease
created_by: slaulede
creation_date: 2022-12-12T14:20:25Z

[Term]
id: DOID:9003005
name: Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia
alt_id: MIM:211930
synonym: "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia" EXACT []
xref: MESH:C537974
is_a: DOID:0080000 ! muscular disease
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9008267 ! Fibrous Dysplasia of Bone

[Term]
id: DOID:9003006
name: Ventricular Septal Defect 3
synonym: "VSD3" EXACT []
xref: MIM:614432
xref: MONDO:0013749
is_a: DOID:1657 ! ventricular septal defect

[Term]
id: DOID:9003007
name: Mitochondrial Complex II Deficiency Nuclear Type 3
synonym: "MC2DN3" EXACT []
xref: MIM:619167
is_a: DOID:0060537 ! mitochondrial complex II deficiency
created_by: mtutaj
creation_date: 2021-02-01T15:47:39Z

[Term]
id: DOID:9003008
name: Lymphatic Vessel Tumors
def: "Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." [MESH:D018190]
synonym: "Lymphatic Vessel Tumor" EXACT []
synonym: "malignant lymphatic vessel tumor" NARROW []
xref: EFO:1001032
xref: MESH:D018190
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:9003009
name: Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
xref: MESH:C565506
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly

[Term]
id: DOID:9003011
name: CAMFAK Syndrome
alt_id: MIM:212540
synonym: "Cataract-microcephaly-failure to thrive-kyphoscoliosis" EXACT []
synonym: "cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome" EXACT []
xref: MESH:C537965
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:3213 ! demyelinating disease
is_a: DOID:83 ! cataract
is_a: DOID:9001999 ! Agenesis of Corpus Callosum

[Term]
id: DOID:9003012
name: Rommen Mueller Sybert Syndrome
synonym: "Developmental delay, growth deficiency, congenital heart defect, and multiple craniofacial anomalies" EXACT []
synonym: "Short stature, heart defect and craniofacial anomalies" EXACT []
xref: MESH:C535871
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003013
name: Neurodevelopmental Disorder with Alopecia and Brain Abnormalities
synonym: "BABS" EXACT []
synonym: "Bachmann-Bupp syndrome" EXACT []
synonym: "NEDABA" EXACT []
synonym: "Neurodevelopmental disorder with alopecia and brain imaging abnormalities" EXACT []
xref: MIM:619075
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006534 ! Nervous System Malformations
is_a: DOID:987 ! alopecia
created_by: mtutaj
creation_date: 2020-11-02T09:44:15Z

[Term]
id: DOID:9003014
name: Hyperglycemic Hyperosmolar Nonketotic Coma
def: "A serious complication of TYPE 2 DIABETES MELLITUS. It is characterized by extreme HYPERGLYCEMIA; DEHYDRATION; serum hyperosmolarity; and depressed consciousness leading to COMA in the absence of KETOSIS and ACIDOSIS." [MESH:D006944]
synonym: "Hyperosmolar Hyperglycemic State" EXACT []
synonym: "Hyperosmolar Hyperglycemic States" EXACT []
synonym: "Hyperosmolar Hyperglycemic Syndrome" EXACT []
synonym: "Hyperosmolar Hyperglycemic Syndromes" EXACT []
synonym: "Hyperosmolar Nonketotic Coma" EXACT []
synonym: "Hyperosmolar Nonketotic Comas" EXACT []
synonym: "Nonketotic Hyperglycemic Coma" EXACT []
xref: MESH:D006944
is_a: DOID:9003496 ! Diabetic Coma

[Term]
id: DOID:9003016
name: Aminoacylase 1 Deficiency
alt_id: MIM:609924
synonym: "ACY1D" EXACT []
synonym: "Deficiency of the aminoacylase-1 enzyme" EXACT []
xref: EFO:1001981
xref: MESH:C538246
xref: RDO:0004197
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9003017
name: Say-Barber-Miller Syndrome
synonym: "microcephaly-hypogammaglobulinemia-abnormal immunity" EXACT []
synonym: "microcephaly with chemotactic defect and transient hypogammaglobulinemia" EXACT []
xref: GARD:239
xref: MESH:C536618
xref: MIM:251240
xref: MONDO:0009620
xref: ORDO:3132
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:2583 ! agammaglobulinemia

[Term]
id: DOID:9003018
name: Halothane Hepatitis
alt_id: MIM:234350
xref: MESH:C562477
is_a: DOID:9007383 ! Chemical and Drug Induced Liver Injury

[Term]
id: DOID:9003019
name: Mercaptolactate-Cysteine Disulfiduria
alt_id: MIM:249650
synonym: "mixed disulfiduria" EXACT []
xref: MESH:C563085
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9003020
name: Chemotherapy-Induced Febrile Neutropenia
def: "FEVER accompanied by a significant reduction in NEUTROPHIL count associated with CHEMOTHERAPY." [MESH:D064146]
synonym: "Chemotherapy-Induced Febrile Neutropenias" EXACT []
synonym: "Drug Induced Febrile Neutropenia" EXACT []
synonym: "Drug-Induced Febrile Neutropenias" EXACT []
xref: MESH:D064146
is_a: DOID:9004486 ! Drug-induced Neutropenia
is_a: DOID:9008313 ! Febrile Neutropenia

[Term]
id: DOID:9003021
name: Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum
synonym: "MCIDDS" EXACT []
xref: MIM:618284
is_a: DOID:10907 ! microcephaly
is_a: DOID:543 ! dystonia
is_a: DOID:83 ! cataract
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2019-02-26T08:34:04Z

[Term]
id: DOID:9003022
name: Short Stature-Obesity Syndrome
alt_id: MIM:269870
synonym: "SSOS" EXACT []
xref: MESH:C564821
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9003023
name: Heart Rupture, Post-Infarction
def: "Laceration or tearing of cardiac tissues appearing after MYOCARDIAL INFARCTION." [MESH:D006342]
synonym: "Post-Infarction Cardiac Rupture" EXACT []
synonym: "Post-Infarction Cardiac Ruptures" EXACT []
synonym: "Post-Infarction Heart Ruptures" EXACT []
xref: MESH:D006342
xref: RDO:0005729
is_a: DOID:9004541 ! Heart Rupture

[Term]
id: DOID:9003024
name: Shapiro Syndrome
synonym: "Shapiro's syndrome" EXACT []
xref: MESH:C537594
is_a: DOID:225 ! syndrome
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9002395 ! Hypothermia
is_a: DOID:9004062 ! Hyperhidrosis

[Term]
id: DOID:9003025
name: Cerebroretinal Microangiopathy with Calcifications and Cysts
synonym: "Coats Plus Syndrome" EXACT []
synonym: "CRMCC" EXACT []
xref: MESH:C567401
xref: MIM:PS612199
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:182 ! calcinosis
is_a: DOID:7765 ! Coats disease
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9003857 ! Central Nervous System Cysts
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9007428 ! Muscle Spasticity
is_a: DOID:9007502 ! Brain Neoplasms

[Term]
id: DOID:9003026
name: Congenital Alopecia X-Linked
synonym: "Alopecia congenital" EXACT []
xref: MESH:C535981
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9003027
name: Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation
alt_id: MIM:603572
xref: MESH:C566361
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003028
name: Glaucoma 1, Open Angle, K
alt_id: MIM:608696
synonym: "Glaucoma, Primary Open Angle, Juvenile-Onset, 3" EXACT []
synonym: "GLC1K" EXACT []
synonym: "JOAG3" EXACT []
xref: MESH:C563873
is_a: DOID:1070 ! primary open angle glaucoma

[Term]
id: DOID:9003029
name: Congenital Stridor
alt_id: RDO:0012539
xref: MESH:C563163
is_a: DOID:9003157 ! Respiratory Sounds
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9003030
name: Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis
synonym: "SOFT" EXACT []
synonym: "SOFT Syndrome" EXACT []
xref: MIM:614813
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9003031
name: Osteopetrosis and Infantile Neuroaxonal Dystrophy
synonym: "Infantile osteopetrosis and neuronal storage disease" EXACT []
synonym: "Prenatal axonal dystrophy and osteopetrosis" EXACT []
xref: MESH:C536055
xref: RDO:0001470
is_a: DOID:13533 ! osteopetrosis
is_a: DOID:2367 ! neuroaxonal dystrophy

[Term]
id: DOID:9003032
name: Undiagnosed Diseases
def: "Rare and common diseases lacking a diagnosis." [MESH:D000080842]
synonym: "MESH:D000080842" EXACT []
is_a: DOID:9000817 ! Disease Attributes
created_by: slaulede
creation_date: 2020-02-07T14:11:09Z

[Term]
id: DOID:9003033
name: Familial Joint Laxity
alt_id: MIM:147900
synonym: "Articular hypermobility syndrome" EXACT []
synonym: "Familial joint instability syndrome" EXACT []
synonym: "Joint instability syndrome" EXACT []
xref: MESH:C535884
is_a: DOID:9005077 ! Joint Instability

[Term]
id: DOID:9003034
name: Anti-N-Methyl-D-Aspartate Receptor Encephalitis
def: "Disorder characterized by symptoms of CATATONIA; HYPOVENTILATION; DYSKINESIAS; ENCEPHALITIS; and SEIZURES followed by a reduced CONSCIOUSNESS. It is often followed by a viral-like prodrome. Many cases are self-limiting and respond well to IMMUNOMODULATORY THERAPIES against the NMDA RECEPTORS antibodies." [MESH:D060426]
synonym: "Anti-NMDA Receptor Encephalitides" EXACT []
synonym: "Anti NMDA Receptor Encephalitis" EXACT []
synonym: "Anti-NMDAR Encephalitides" EXACT []
synonym: "Anti NMDAR Encephalitis" EXACT []
synonym: "Anti-N-Methyl-D-Aspartate Receptor Encephalitides" EXACT []
synonym: "Non paraneoplastic Anti NMDA Receptor Encephalitis" EXACT []
synonym: "Non-paraneoplastic Anti-NMDAR Encephalitides" EXACT []
synonym: "Non paraneoplastic Anti NMDAR Encephalitis" EXACT []
synonym: "Non paraneoplastic Anti N Methyl D Aspartate Receptor Encephalitis" EXACT []
synonym: "Paraneoplastic Anti NMDA Receptor Encephalitis" EXACT []
synonym: "Paraneoplastic Anti-NMDAR Encephalitides" EXACT []
synonym: "Paraneoplastic Anti NMDAR Encephalitis" EXACT []
synonym: "Paraneoplastic Anti N Methyl D Aspartate Receptor Encephalitis" EXACT []
xref: MESH:D060426
is_a: DOID:438 ! autoimmune disease of the nervous system
is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes
is_a: DOID:9588 ! encephalitis

[Term]
id: DOID:9003035
name: Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease
alt_id: MIM:124950
xref: MESH:C565120
is_a: DOID:0050830 ! peripheral artery disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1389 ! polyneuropathy

[Term]
id: DOID:9003036
name: Oral Lichen Planus
def: "Oral lesions accompanying cutaneous lichen planus or often occurring alone. The buccal mucosa, lips, gingivae, floor of the mouth, and palate are usually affected (in a descending order of frequency). Typically, oral lesions consist of radiating white or gray, velvety, threadlike lines, arranged in a reticular pattern, at the intersection of which there may be minute, white, elevated dots or streaks (Wickham's striae). (Jablonski, Illustrated Dictionary of Dentistry)" [MESH:D017676]
xref: EFO:0008517
xref: MESH:D017676
is_a: DOID:403 ! mouth disease
is_a: DOID:9201 ! lichen planus

[Term]
id: DOID:9003037
name: Turner Syndrome-Associated Neurocognitive Phenotype
xref: MESH:C564058
xref: RDO:0013148
is_a: DOID:3491 ! Turner syndrome

[Term]
id: DOID:9003038
name: X Inactivation, Familial Skewed, 2
alt_id: MIM:300179
synonym: "SXI2" EXACT []
xref: MESH:C564572
is_a: DOID:0050735 ! X-linked monogenic disease

[Term]
id: DOID:9003039
name: Immunodeficiency 76
synonym: "IMD76" EXACT []
xref: MIM:619164
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2021-02-12T11:24:09Z

[Term]
id: DOID:9003040
name: Squamous Intraepithelial Lesions of the Cervix
def: "A cytological test finding often from PAP SMEARS that shows abnormal lesions of SQUAMOUS EPITHELIAL CELLS of the CERVIX. It is a diagnostic criterion used in the Bethesda System for UTERINE CERVICAL NEOPLASMS and represents the PAP TEST result that is abnormal. Although squamous intraepithelial lesions test result does not mean UTERINE CERVICAL NEOPLASMS it requires follow-ups (e.g., HPV DNA TESTS; and COLPOSCOPY)." [MESH:D065310]
xref: MESH:D065310
xref: RDO:0015971
is_a: DOID:9006096 ! Uterine Cervical Dysplasia
is_a: DOID:9007320 ! Squamous Intraepithelial Lesions

[Term]
id: DOID:9003041
name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
alt_id: RDO:9001317
def: "This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. (OMIM)" []
synonym: "CCND2-RELATED CONDITION" EXACT []
synonym: "MPPH3" EXACT []
xref: MIM:615938
is_a: DOID:9002403 ! Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
created_by: rgd
creation_date: 2017-01-31T00:00:00Z

[Term]
id: DOID:9003042
name: male breast carcinoma
def: "This is a malignant neoplasm involving the male breast." [EFO:0006861]
synonym: "carcinoma of the male breast" EXACT []
xref: EFO:0006861
is_a: DOID:1614 ! male breast cancer
is_a: DOID:3459 ! breast carcinoma
created_by: slaulede
creation_date: 2022-09-09T17:52:54Z

[Term]
id: DOID:9003044
name: Selective Tooth Agenesis 10
def: "Agenesis of multiple teeth of the permanent dentition caused by homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22." []
synonym: "STHAG10" EXACT []
xref: MIM:620173
is_a: DOID:0050591 ! tooth agenesis
created_by: mtutaj
creation_date: 2022-12-21T15:26:26Z

[Term]
id: DOID:9003046
name: Braddock-Carey Syndrome 1
def: "Characterized by Pierre-Robin sequence, persistent congenital thrombocytopenia, agenesis of the corpus callosum, severe developmental delay, microcephaly, high forehead, sparse curly hair, downslanting palpebral fissures, telecanthus, inverted U-shaped upper vermilion, enamel hypoplasia, large posteriorly rotated ears, clinodactyly, and camptodactyly. Is a contiguous gene deletion syndrome involving chromosome 21q22." [MIM:619980]
synonym: "BRDCS1" EXACT []
xref: MIM:619980
is_a: DOID:9008270 ! Braddock Carey Syndrome
created_by: mtutaj
creation_date: 2022-08-01T08:32:40Z

[Term]
id: DOID:9003047
name: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
def: "This disease is characterized by linear hypopigmentation and craniofacial asymmetry in association with ocular, dental, and acral anomalies." [MIM:618727]
synonym: "Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic" EXACT []
synonym: "EDFAOB" EXACT []
xref: MIM:618727
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:2490 ! congenital nervous system abnormality
is_a: DOID:9005660 ! Hypopigmentation
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: slaulede
creation_date: 2021-08-12T16:04:55Z

[Term]
id: DOID:9003048
name: Hypophosphatemic Rickets and Hyperparathyroidism
alt_id: MIM:612089
xref: MESH:C567423
is_a: DOID:11202 ! primary hyperparathyroidism
is_a: DOID:9001458 ! Hypophosphatemic Rickets

[Term]
id: DOID:9003049
name: Femur Head Necrosis
alt_id: MIM:608805
alt_id: MIM:617383
def: "Aseptic or avascular necrosis of the femoral head. The major types are idiopathic (primary), as a complication of fractures or dislocations, and LEGG-CALVE-PERTHES DISEASE." [MESH:D005271]
synonym: "ANFH" EXACT []
synonym: "ANFH1" NARROW []
synonym: "ANFH2" NARROW []
synonym: "Aseptic Necrosis of Femur Head" EXACT []
synonym: "Avascular Necrosis Of Femoral Head, Primary" EXACT []
synonym: "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1" NARROW []
synonym: "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2" NARROW []
synonym: "Avascular Necrosis of Femur Head" EXACT []
synonym: "FEMORAL HEAD, ASEPTIC NECROSIS OF" EXACT []
synonym: "Femoral Head, Avascular Necrosis Of" EXACT []
synonym: "Femur Head Necroses" EXACT []
synonym: "idiopathic osteonecrosis of the femoral head" NARROW []
synonym: "Ischemic Necrosis Of Femoral Head" EXACT []
synonym: "osteonecrosis of femoral head" EXACT []
xref: EFO:1001930
xref: MESH:D005271
xref: NCI:C35447
is_a: DOID:10159 ! osteonecrosis

[Term]
id: DOID:9003050
name: Multiple Exostoses Type I
def: "Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent. Multiple exostoses type I (EXT1) is caused by heterozygous mutation in the gene encoding exostosin-1 (EXT1) on chromosome 8q24. (OMIM)" []
synonym: "EXT" EXACT []
synonym: "EXT1" EXACT []
synonym: "hereditary multiple exostoses 1" EXACT []
xref: MIM:133700
is_a: DOID:206 ! hereditary multiple exostoses

[Term]
id: DOID:9003052
name: Multinodular Goiter 2
alt_id: MIM:300273
synonym: "MNG2" EXACT []
xref: MESH:C564546
is_a: DOID:0050489 ! multinodular goiter

[Term]
id: DOID:9003053
name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
def: "This disease is an autosomal recessive complex ciliopathy with multisystemic manifestations." [MIM:619534]
synonym: "BRENS" EXACT []
synonym: "BRENS SYNDROME" EXACT []
xref: MIM:619534
is_a: DOID:17 ! musculoskeletal system disease
is_a: DOID:557 ! kidney disease
is_a: DOID:863 ! nervous system disease
is_a: DOID:9741 ! biliary tract disease
created_by: slaulede
creation_date: 2021-12-07T13:59:06Z

[Term]
id: DOID:9003054
name: Kuster Syndrome
xref: MESH:C538126
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9003055
name: Mitochondrial Complex II Deficiency Nuclear Type 1
synonym: "MC2DN1" EXACT []
xref: MIM:252011
is_a: DOID:0060537 ! mitochondrial complex II deficiency
created_by: mtutaj
creation_date: 2021-02-01T15:43:02Z

[Term]
id: DOID:9003056
name: Short-Rib Thoracic Dysplasia 20 with Polydactyly
synonym: "SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY, DIGENIC" RELATED []
synonym: "SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC" RELATED []
synonym: "SRTD20" EXACT []
xref: MIM:617925
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
created_by: slaulede
creation_date: 2018-06-01T10:20:43Z

[Term]
id: DOID:9003057
name: Laryngeal Nerve Injuries
def: "Traumatic injuries to the LARYNGEAL NERVE." [MESH:D061224]
synonym: "Laryngeal Nerve Avulsion" EXACT []
synonym: "Laryngeal Nerve Avulsions" EXACT []
synonym: "Laryngeal Nerve Contusion" EXACT []
synonym: "Laryngeal Nerve Contusions" EXACT []
synonym: "Laryngeal Nerve Injury" EXACT []
synonym: "Laryngeal Nerve Transection" EXACT []
synonym: "Laryngeal Nerve Transections" EXACT []
synonym: "Laryngeal Nerve Trauma" EXACT []
synonym: "Laryngeal Nerve Traumas" EXACT []
synonym: "Traumatic Laryngeal Neuropathies" EXACT []
synonym: "Traumatic Laryngeal Neuropathy" EXACT []
xref: MESH:D061224
xref: RDO:0010061
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9008629 ! Vagus Nerve Injuries

[Term]
id: DOID:9003058
name: Hypodontia Oligodontia with Orofacial Cleft
xref: MESH:C566995
xref: RDO:0015185
is_a: DOID:13714 ! anodontia
is_a: DOID:674 ! cleft palate
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9003059
name: Kifafa Seizure Disorder
alt_id: MIM:245180
synonym: "Complex familial seizure disorder" EXACT []
synonym: "Vitsala" EXACT []
xref: MESH:C537708
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:9003062
name: Jones Syndrome
alt_id: MIM:135550
synonym: "fibromatosis gingival progressive deafness" EXACT []
synonym: "gingival fibromatosis with progressive deafness" EXACT []
synonym: "gingival fibromatosis with sensorineural hearing loss" EXACT []
xref: MESH:C535886
is_a: DOID:0060466 ! gingival fibromatosis
is_a: DOID:225 ! syndrome
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9003063
name: Cerebrohepatorenal Syndrome, Variant Types
synonym: "Zellweger Syndrome, Variant Types" EXACT []
xref: MESH:C565861
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:9003064
name: Bork Stender Schmidt Syndrome
alt_id: MIM:191482
synonym: "Bork syndrome" EXACT []
synonym: "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" EXACT []
xref: MESH:C536576
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:1091 ! tooth disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9003065
name: Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia
synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and apraxia" EXACT []
xref: MESH:C564330
is_a: DOID:0060135 ! apraxia
is_a: DOID:9006051 ! Alzheimer's Disease, Familial, 3, with Spastic Paraparesis

[Term]
id: DOID:9003066
name: Intracranial Tuberculomas
def: "A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with SEIZURES, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as OPPORTUNISTIC INFECTIONS, but also occur in immunocompetent individuals." [MESH:D020306]
synonym: "intracranial tubercular abscess" EXACT []
synonym: "intracranial tuberculoma" EXACT []
xref: MESH:D016862
is_a: DOID:1638 ! central nervous system tuberculosis
is_a: DOID:9007931 ! Tuberculoma

[Term]
id: DOID:9003067
name: Cervical Hypertrichosis with Underlying Kyphoscoliosis
alt_id: MIM:117850
synonym: "Hypertrichosis, Posterior Cervical, with Underlying Kyphoscoliosis" EXACT []
xref: MESH:C566142
is_a: DOID:0060249 ! scoliosis
is_a: DOID:420 ! hypertrichosis
is_a: DOID:4667 ! kyphosis

[Term]
id: DOID:9003068
name: Familial Frontonasal Dermoid Cysts
alt_id: MIM:600679
xref: MESH:C563455
is_a: DOID:2658 ! dermoid cyst
is_a: DOID:9007971 ! Nose Neoplasms

[Term]
id: DOID:9003069
name: Tessadori-van Haaften Neurodevelopmental Syndrome 3
def: "Characterized by global developmental delay with poor overall growth, impaired intellectual development, and speech difficulties. caused by heterozygous mutation in the H4C5 gene on chromosome 6p21." [MIM:619950]
synonym: "TEVANED3" EXACT []
xref: MIM:619950
is_a: DOID:9008554 ! Tessadori-van Haaften Neurodevelopmental Syndrome
created_by: mtutaj
creation_date: 2022-07-18T10:56:15Z

[Term]
id: DOID:9003070
name: Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature
alt_id: MIM:609037
xref: MESH:C563810
is_a: DOID:1059 ! intellectual disability
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003071
name: Postaxial Polydactyly
synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC POSTAXIAL POLYDACTYLY" NARROW []
xref: MIM:PS174200
is_a: DOID:1148 ! polydactyly
created_by: mtutaj
creation_date: 2019-07-10T12:10:25Z

[Term]
id: DOID:9003072
name: Iridocorneal Endothelial Syndrome
alt_id: RDO:0007783
def: "A grouping of three closely linked conditions: iris nevus (or Cogan-Reese) syndrome, Chandler Syndrome, and essential (progressive) iris atrophy. The most common features of this syndrome are the movement of endothelial cells off the cornea onto the iris leading to corneal swelling, distortion of the iris, and variable degrees of distortion of the pupil. The abnormal cell movement plugs fluid outflow channels of the eye causing GLAUCOMA." [MESH:D057129]
synonym: "Dystrophy Endothelial Cornea" EXACT []
synonym: "Dystrophy Endothelial Corneas" EXACT []
synonym: "Iridocorneal Endothelial Syndromes" EXACT []
synonym: "Iris Atrophy with Corneal Edema and Glaucoma" EXACT []
xref: MESH:D057129
is_a: DOID:0060443 ! corneal endothelial dystrophy
is_a: DOID:225 ! syndrome
is_a: DOID:240 ! iris disease

[Term]
id: DOID:9003073
name: Organizing Pneumonia
def: "Any obstructive lung disease characterized by consolidated formation of GRANULATION TISSUE polyps within ALVEOLAR DUCTS AND ALVEOLI. It is classified as either primary (cryptogenic organizing pneumonia) or secondary organizing pneumonia. Secondary organizing pneumonia after transplantation is called bronchiolitis obliterans syndrome." []
xref: MESH:D000092124
is_a: DOID:2799 ! bronchiolitis obliterans
created_by: mtutaj
creation_date: 2022-12-12T14:04:25Z

[Term]
id: DOID:9003074
name: Foreign Bodies
def: "Inanimate objects that become enclosed in the body." [MESH:D005547]
synonym: "Foreign Body" EXACT []
synonym: "foreign body in gastrointestinal tract" NARROW []
synonym: "Foreign Object" EXACT []
synonym: "Foreign Objects" EXACT []
synonym: "Gossypiboma" EXACT []
synonym: "Gossypibomas" EXACT []
synonym: "Retained Surgical Instrument" EXACT []
synonym: "Retained Surgical Instruments" EXACT []
synonym: "Retained Surgical Item" EXACT []
synonym: "Retained Surgical Items" EXACT []
synonym: "Retained Surgical Needle" EXACT []
synonym: "Retained Surgical Needles" EXACT []
synonym: "Retained Surgical Sponge" EXACT []
synonym: "Retained Surgical Sponges" EXACT []
synonym: "Retained Surgical Tool" EXACT []
synonym: "Retained Surgical Tools" EXACT []
synonym: "Textiloma" EXACT []
synonym: "Textilomas" EXACT []
xref: EFO:0009525
xref: EFO:0009526
xref: MESH:D005547
xref: RDO:0004990
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9003075
name: Lamellar Ichthyosis, Autosomal Dominant Form
alt_id: MIM:146750
synonym: "ADLI" EXACT []
synonym: "autosomal-dominant lamellar ichthyosis" EXACT []
synonym: "lamellar ichthyosis, dominant" EXACT []
synonym: "nonbullous ichthyosiform erythroderma, dominant form" EXACT []
xref: MESH:C537263
is_a: DOID:1697 ! ichthyosis

[Term]
id: DOID:9003076
name: Porokeratosis 9, Multiple Types
def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Mutations in the FDPS gene on chromosome 1q22 have been found to cause multiple types of porokeratosis (POROK9), which have been described as disseminated superficial actinic porokeratosis (DSAP) and nonactinic disseminated superficial porokeratosis (DSP). (OMIM)" []
synonym: "POROK9" EXACT []
xref: MIM:616631
xref: MONDO:0014713
is_a: DOID:3805 ! porokeratosis

[Term]
id: DOID:9003077
name: Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay
alt_id: MIM:188201
xref: MESH:C566053
is_a: DOID:0110964 ! brachydactyly type A1
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9003078
name: Abdominal Neoplasms
def: "New abnormal growth of tissue in the ABDOMEN." [MESH:D000008]
synonym: "Abdominal Neoplasm" EXACT []
xref: MESH:D000008
xref: RDO:0001323
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:9003079
name: Dowling-Degos Disease 4
synonym: "DDD4" EXACT []
synonym: "POGLUT1-RELATED CONDITION" BROAD []
xref: MIM:615696
is_a: DOID:0060256 ! Dowling-Degos disease

[Term]
id: DOID:9003080
name: pulmonary amyloidosis
def: "Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis." [EFO:1001910]
synonym: "amyloidosis of the lung" EXACT []
synonym: "pulmonary nodular amyloidosis" NARROW []
xref: EFO:1001910
xref: EFO:1001911
is_a: DOID:9007454 ! amyloidoma
created_by: slaulede
creation_date: 2022-10-17T12:41:11Z

[Term]
id: DOID:9003081
name: Growth Retardation, Developmental Delay, Coarse Facies, and Early Death
alt_id: MIM:612938
synonym: "GDFD" EXACT []
synonym: "GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM" EXACT []
xref: MESH:C567856
is_a: DOID:9001276 ! Failure to Thrive
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9003082
name: Ribbing Disease
alt_id: MIM:601477
synonym: "hereditary multiple diaphyseal sclerosis" EXACT []
synonym: "multiple diaphyseal sclerosis" EXACT []
xref: MESH:C537613
is_a: DOID:4997 ! Camurati-Engelmann disease
is_a: DOID:9007574 ! Osteoid Osteoma

[Term]
id: DOID:9003084
name: Primary Autosomal Recessive Microcephaly 25
def: "MCPH25 is caused by homozygous mutation in the MAP11 gene on chromosome 7q22. (OMIM)" []
synonym: "MCPH25" EXACT []
xref: MIM:618351
is_a: DOID:0070296 ! primary autosomal recessive microcephaly
created_by: mtutaj
creation_date: 2019-03-12T10:54:08Z

[Term]
id: DOID:9003085
name: Neoplasms, Post-Traumatic
def: "Tumors, cancer or other neoplasms caused by or resulting from trauma or other non-radiation injuries." [MESH:D017169]
synonym: "Post Traumatic Cancer" EXACT []
synonym: "Post-Traumatic Cancers" EXACT []
synonym: "Post-Traumatic Malignancies" EXACT []
synonym: "Post-Traumatic Malignancy" EXACT []
synonym: "Post-Traumatic Neoplasm" EXACT []
xref: MESH:D017169
xref: RDO:0007034
is_a: DOID:14566 ! disease of cellular proliferation

[Term]
id: DOID:9003086
name: Congenital Nystagmus 8
def: "A bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms, caused by homozygous mutation in the ROBO1 gene on chromosome 3p12." [MIM:257400]
synonym: "congenital nystagmus 8, autosomal recessive" EXACT []
synonym: "NYS8" EXACT []
xref: MIM:257400
is_a: DOID:9649 ! congenital nystagmus
created_by: mtutaj
creation_date: 2023-04-07T10:00:53Z

[Term]
id: DOID:9003087
name: Al Kaissi Syndrome
alt_id: RDO:9004998
def: "An autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability. (OMIM)" []
synonym: "ALKAS" EXACT []
synonym: "GROWTH RETARDATION, SPINE MALFORMATION, DYSMORPHIC FACIES, AND DEVELOPMENTAL DELAY" EXACT []
xref: MIM:617694
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: rgd
creation_date: 2017-11-13T00:00:00Z

[Term]
id: DOID:9003089
name: Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1
alt_id: MIM:605594
synonym: "Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1" NARROW []
synonym: "DFNA39/DGI1 SYNDROME" EXACT []
synonym: "DFNA39-Dentinogenesis Imperfecta 1 Syndrome" EXACT []
xref: MESH:C565316
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
is_a: DOID:4154 ! dentinogenesis imperfecta

[Term]
id: DOID:9003090
name: Hyperreninemic Hypoaldosteronism, Familial, 2
alt_id: MIM:606984
synonym: "FHHA2" EXACT []
xref: MESH:C564638
is_a: DOID:9005658 ! Hypoaldosteronism

[Term]
id: DOID:9003091
name: Noonan Like Syndrome
synonym: "NOONAN-LIKE DISORDER" EXACT []
synonym: "Noonan-like-multiple giant cell lesion syndrome" NARROW []
synonym: "Noonan-like syndrome disorder" EXACT []
synonym: "Noonan-related syndrome" EXACT []
synonym: "NOONAN SYNDROME-LIKE DEVELOPMENTAL DISORDER" NARROW []
synonym: "Noonan syndrome with pigmented villonodular synovitis" NARROW []
xref: MESH:C537846
is_a: DOID:3490 ! Noonan syndrome
is_a: DOID:9000640 ! Giant Cell Granuloma

[Term]
id: DOID:9003092
name: Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency
alt_id: DOID:9001625
synonym: "Membranoproliferative Glomerulonephritis, Type Ii, With Complement Factor H Deficiency" EXACT []
synonym: "MPGN II with Complement Factor H Deficiency" EXACT []
is_a: DOID:2920 ! membranoproliferative glomerulonephritis

[Term]
id: DOID:9003093
name: Ectodermal Dysplasia, Trichoodontoonychial Type
alt_id: MIM:129510
xref: MESH:C565068
is_a: DOID:13714 ! anodontia
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:9003094
name: Adult Refsum Disease, 1
alt_id: RDO:0012016
xref: MESH:C567602
is_a: DOID:10582 ! Refsum disease

[Term]
id: DOID:9003095
name: Aphonia
def: "Complete loss of phonation due to organic disease of the larynx or to nonorganic (i.e., psychogenic) causes." [MESH:D001044]
synonym: "Absence of Voice" EXACT []
synonym: "Aphonia Paralytica" EXACT []
synonym: "Functional Aphonia" EXACT []
synonym: "Functional Aphonias" EXACT []
synonym: "Nonorganic Aphonia" EXACT []
synonym: "Nonorganic Aphonias" EXACT []
synonym: "Spastic Aphonia" EXACT []
synonym: "Spastic Aphonias" EXACT []
synonym: "Voice Absence" EXACT []
synonym: "Voice Absences" EXACT []
xref: MESH:D001044
is_a: DOID:9006046 ! Voice Disorders

[Term]
id: DOID:9003096
name: Keratoconus 4
alt_id: MIM:609271
synonym: "KTCN4" EXACT []
xref: MESH:C563752
is_a: DOID:10126 ! keratoconus

[Term]
id: DOID:9003097
name: Benign Familial Hematuria 2
def: "A benign familial hematuria caused by heterozygous mutation in the COL4A3 gene on chromosome 2q36." []
synonym: "BFH2" EXACT []
xref: MIM:620320
is_a: DOID:0111365 ! benign familial hematuria
created_by: mtutaj
creation_date: 2023-04-14T09:07:23Z

[Term]
id: DOID:9003098
name: Taurodontism
alt_id: MIM:272700
synonym: "Bull teeth" EXACT []
synonym: "Large pulp chambers, in the molars" EXACT []
xref: MESH:C536946
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9003099
name: Gagging
def: "Contraction of the muscle of the PHARYNX caused by stimulation of sensory receptors on the SOFT PALATE, by psychic stimuli, or systemically by drugs." [MESH:D005683]
synonym: "Pharyngeal Reflex" EXACT []
xref: MESH:D005683
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:9003100
name: Pancreatic Neoplasms
synonym: "Borderline Exocrine Pancreatic Neoplasm" NARROW []
synonym: "pancreas neoplasm" EXACT []
synonym: "Pancreas Neoplasms" EXACT []
synonym: "pancreatic neoplasm" EXACT []
xref: EFO:0003860
xref: EFO:1000133
xref: NCI:C34035
is_a: DOID:26 ! pancreas disease
is_a: DOID:9004351 ! Digestive System Neoplasms
is_a: DOID:9007803 ! Endocrine Gland Neoplasms

[Term]
id: DOID:9003101
name: Spina Bifida, Folate-Sensitive
xref: MESH:C566648
is_a: DOID:0080016 ! spina bifida

[Term]
id: DOID:9003102
name: Parathyroid Gland Hyperplasia
def: "This is non-neoplastic proliferation of the parathyroid parenchymal cells in multiple parathyroid glands." [NCI:C3989]
synonym: "Hyperplasia of Parathyroid" EXACT []
synonym: "Hyperplasia of the Parathyroid" EXACT []
synonym: "Parathyroid Hyperplasia" EXACT []
xref: EFO:1000457
is_a: DOID:11201 ! parathyroid gland disease
is_a: DOID:9002221 ! Hyperplasia
created_by: slaulede
creation_date: 2023-01-27T10:34:51Z

[Term]
id: DOID:9003104
name: Intracranial Hemorrhages
def: "Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." [MESH:D020300]
synonym: "Brain Hemorrhage" EXACT []
synonym: "Brain Hemorrhages" EXACT []
synonym: "intracranial hemorrhage" EXACT []
synonym: "Posterior Fossa Hemorrhage" EXACT []
synonym: "posterior fossa hemorrhages" EXACT []
xref: EFO:0000551
xref: MESH:D020300
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9003105
name: Spirurida Infections
def: "Infections with nematodes of the order SPIRURIDA." [MESH:D017205]
synonym: "Habronemiases" EXACT []
synonym: "Habronemiasis" EXACT []
synonym: "Spirurida Infection" EXACT []
xref: MESH:D017205
is_a: DOID:9004401 ! Secernentea Infections

[Term]
id: DOID:9003106
name: Renoprival Hypertension
xref: MESH:C537760
xref: RDO:0003657
is_a: DOID:1073 ! renal hypertension

[Term]
id: DOID:9003107
name: Non Ketotic Hyperglycinemia Syndrome
xref: MESH:C000601856
xref: RDO:0016037
is_a: DOID:225 ! syndrome
is_a: DOID:9268 ! glycine encephalopathy

[Term]
id: DOID:9003108
name: CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:12558 ! chronic progressive external ophthalmoplegia
created_by: slaulede
creation_date: 2019-09-10T14:56:54Z

[Term]
id: DOID:9003109
name: Benign Familial Neonatal Seizures, 2
alt_id: MIM:121201
alt_id: RDO:0000592
alt_id: RDO:0015788
synonym: "autosomal dominant form of benign neonatal seizures" BROAD []
synonym: "benign familial neonatal convulsions, 2" EXACT []
synonym: "benign familial neonatal convulsions, dominant form" BROAD []
synonym: "benign familial neonatal seizures" BROAD []
synonym: "benign neonatal epilepsy, 2" EXACT []
synonym: "BFNC2" EXACT []
synonym: "BFNS2" EXACT []
xref: MESH:C535466
is_a: DOID:14264 ! benign neonatal seizures
is_a: DOID:14777 ! benign familial neonatal epilepsy

[Term]
id: DOID:9003110
name: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
def: "A disease characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive." [MIM:618877]
synonym: "EIF2AK2-RELATED CONDITION" EXACT []
synonym: "LEUDEN" EXACT []
synonym: "LEUDEN SYNDROME" EXACT []
xref: MIM:618877
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2020-07-10T11:10:53Z

[Term]
id: DOID:9003111
name: Growth Retardation, Small and Puffy Hands and Feet, and Eczema
alt_id: MIM:233810
xref: MESH:C565528
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007356 ! Eczema
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9003112
name: Human Bites
def: "Bites inflicted by humans." [MESH:D001734]
synonym: "Human Bite" EXACT []
xref: MESH:D001734
is_a: DOID:9002550 ! Bites and Stings

[Term]
id: DOID:9003113
name: Hearing Loss, Mixed Conductive-Sensorineural
def: "Hearing loss due to damage or impairment of both the conductive elements (HEARING LOSS, CONDUCTIVE) and the sensorineural elements (HEARING LOSS, SENSORINEURAL) of the ear." [MESH:D046089]
synonym: "Losses, Mixed Hearing" EXACT []
synonym: "Mixed Hearing Loss" EXACT []
xref: MESH:D046089
xref: RDO:0007525
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9003114
name: Reynolds Syndrome
synonym: "PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA" EXACT []
xref: MIM:613471
is_a: DOID:10300 ! Raynaud disease
is_a: DOID:12236 ! primary biliary cholangitis
is_a: DOID:1272 ! telangiectasis
is_a: DOID:418 ! systemic scleroderma

[Term]
id: DOID:9003116
name: Muscle Cramps, Familial
alt_id: MIM:158400
alt_id: MIM:218050
xref: MESH:C563563
is_a: DOID:9000373 ! Muscle Cramp

[Term]
id: DOID:9003117
name: Zygomycosis
def: "Infection in humans and animals caused by fungi in the class Zygomycetes. It includes MUCORMYCOSIS and entomophthoramycosis. The latter is a tropical infection of subcutaneous tissue or paranasal sinuses caused by fungi in the order Entomophthorales. Phycomycosis, closely related to zygomycosis, describes infection with members of Phycomycetes, an obsolete classification." [MESH:D020096]
synonym: "Entomophthoramycoses" EXACT []
synonym: "Entomophthoramycosis" EXACT []
synonym: "Phycomycoses" EXACT []
synonym: "Phycomycosis" EXACT []
synonym: "Zygomycoses" EXACT []
xref: MESH:D020096
xref: RDO:0006146
is_a: DOID:1564 ! fungal infectious disease

[Term]
id: DOID:9003118
name: Testicular Germ Cell Tumor 1
alt_id: MIM:300228
synonym: "TGCT1" EXACT []
xref: MESH:C564559
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9003654 ! Testicular Germ Cell Tumor

[Term]
id: DOID:9003119
name: Nonsyndromic Oculocutaneous Albinism
is_a: DOID:0050632 ! oculocutaneous albinism
created_by: mtutaj
creation_date: 2020-04-22T15:08:06Z

[Term]
id: DOID:9003120
name: Hirschsprung Disease with Type D Brachydactyly
alt_id: MIM:306980
synonym: "Familial Hirschsprung's disease and type D brachydactyly" EXACT []
synonym: "Hirschsprung Disease Type D Brachydactyly" EXACT []
xref: MESH:C538319
is_a: DOID:0110971 ! brachydactyly type D
is_a: DOID:10487 ! Hirschsprung's disease

[Term]
id: DOID:9003121
name: Thromboembolism
def: "Obstruction of a blood vessel (embolism) by a blood clot (THROMBUS) in the blood stream." [MESH:D013923]
synonym: "Thromboembolisms" EXACT []
xref: MESH:D013923
is_a: DOID:9001268 ! Embolism and Thrombosis

[Term]
id: DOID:9003122
name: Rhabdomyoma
def: "A benign tumor derived from striated muscle. It is extremely rare, generally occurring in the tongue, neck muscles, larynx, uvula, nasal cavity, axilla, vulva, and heart. These tumors are treated by simple excision. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)" [MESH:D012207]
synonym: "Rhabdomyomas" EXACT []
xref: MESH:D012207
is_a: DOID:2691 ! myoma

[Term]
id: DOID:9003123
name: Theodor Hertz Goodman Syndrome
synonym: "Symphalangism, short stature, skeletal anomalies, and accessory testis" EXACT []
xref: MESH:C536509
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9003124
name: Labrune Syndrome
alt_id: MIM:614561
synonym: "LCC" EXACT []
synonym: "leukoencephalopathy, brain calcifications and cysts" EXACT []
xref: MESH:C000598644
is_a: DOID:182 ! calcinosis
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9003857 ! Central Nervous System Cysts

[Term]
id: DOID:9003125
name: Male Genital Neoplasms
alt_id: RDO:0005657
def: "Tumor or cancer of the MALE GENITALIA." [MESH:D005834]
synonym: "male genital neoplasm" EXACT []
synonym: "male reproductive system neoplasm" EXACT []
synonym: "neoplasm of male genital organ" EXACT []
synonym: "tumor of male reproductive system" EXACT []
xref: MESH:D005834
is_a: DOID:48 ! male reproductive system disease
is_a: DOID:9007150 ! Urogenital Neoplasms

[Term]
id: DOID:9003126
name: Hallucinations
def: "Subjectively experienced sensations in the absence of an appropriate stimulus, but which are regarded by the individual as real. They may be of organic origin or associated with MENTAL DISORDERS." [MESH:D006212]
synonym: "Auditory Hallucination" EXACT []
synonym: "Auditory Hallucinations" EXACT []
synonym: "Body Sensation Hallucination" EXACT []
synonym: "Body Sensation Hallucinations" EXACT []
synonym: "Dissociative Hallucination" EXACT []
synonym: "Dissociative Hallucinations" EXACT []
synonym: "Elementary Hallucination" EXACT []
synonym: "Elementary Hallucinations" EXACT []
synonym: "Gustatory Hallucination" EXACT []
synonym: "Gustatory Hallucinations" EXACT []
synonym: "Hallucination" EXACT []
synonym: "Hallucination of Body Sensation" EXACT []
synonym: "Hallucinations, Formed, of People" EXACT []
synonym: "Hallucinations, Internal Body Sensation" EXACT []
synonym: "Hallucinations, Visual, Formed" EXACT []
synonym: "Hallucinations, Visual, Unformed" EXACT []
synonym: "Hypnagogic Hallucination" EXACT []
synonym: "Hypnagogic Hallucinations" EXACT []
synonym: "Hypnapompic Hallucination" EXACT []
synonym: "Hypnapompic Hallucinations" EXACT []
synonym: "Kinesthetic Hallucination" EXACT []
synonym: "Kinesthetic Hallucinations" EXACT []
synonym: "Mood Congruent Hallucination" EXACT []
synonym: "Mood Congruent Hallucinations" EXACT []
synonym: "Mood Incongruent Hallucination" EXACT []
synonym: "Mood Incongruent Hallucinations" EXACT []
synonym: "Olfactory Hallucination" EXACT []
synonym: "Olfactory Hallucinations" EXACT []
synonym: "Organic Hallucination" EXACT []
synonym: "Organic Hallucinations" EXACT []
synonym: "Reflex Hallucination" EXACT []
synonym: "Reflex Hallucinations" EXACT []
synonym: "Sensory Hallucination" EXACT []
synonym: "Sensory Hallucinations" EXACT []
synonym: "Somatic Hallucination" EXACT []
synonym: "Somatic Hallucinations" EXACT []
synonym: "Tactile Hallucination" EXACT []
synonym: "Tactile Hallucinations" EXACT []
synonym: "Verbal Auditory Hallucination" EXACT []
synonym: "Verbal Auditory Hallucinations" EXACT []
synonym: "Visual Hallucination" EXACT []
synonym: "Visual Hallucinations" EXACT []
xref: MESH:D006212
is_a: DOID:9004523 ! Perceptual Disorders

[Term]
id: DOID:9003127
name: Skin/Hair/Eye Pigmentation, Variation In, 11
alt_id: MIM:612271
synonym: "Melanesian Blond Hair" EXACT []
synonym: "SHEP11" EXACT []
synonym: "Skin-Hair-Eye Pigmentation 11, Blue-Nonblue Eyes" EXACT []
xref: MESH:C567374
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9003128
name: Ectopic Tooth Eruption
def: "An abnormality in the direction of a TOOTH ERUPTION." [MESH:D014079]
synonym: "Ectopic Tooth Eruptions" EXACT []
xref: MESH:D014079
is_a: DOID:1091 ! tooth disease

[Term]
id: DOID:9003129
name: Chromosome 3, Monosomy 3p25
synonym: "Deletion 3p25" EXACT []
synonym: "Monosomy 3p25" EXACT []
xref: MESH:C536807
xref: RDO:0002499
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9003130
name: Russell-Silver Syndrome, X-Linked
alt_id: MIM:312780
synonym: "Russell-Silver-Like Syndrome with Skin Pigmentation" EXACT []
xref: MESH:C562446
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:14681 ! Silver-Russell syndrome

[Term]
id: DOID:9003131
name: Myocardial Contusions
def: "Bruise to the heart muscle due to blunt thoracic trauma. " [MESH:D000071956]
synonym: "Blunt Cardiac Injuries" EXACT []
synonym: "Blunt Cardiac Injury" EXACT []
synonym: "Cardiac Contusion" EXACT []
synonym: "Cardiac Contusions" EXACT []
synonym: "Contusio Cordis" EXACT []
synonym: "Heart Contusion" EXACT []
synonym: "Heart Contusions" EXACT []
synonym: "Myocardial Contusion" EXACT []
xref: MESH:D000071956
xref: RDO:0016111
is_a: DOID:9005166 ! Contusions
is_a: DOID:9007588 ! Heart Injuries

[Term]
id: DOID:9003132
name: Sialorrhea
def: "Increased salivary flow." [MESH:D012798]
synonym: "Drooling" EXACT []
synonym: "Hypersalivation" EXACT []
xref: MESH:D012798
is_a: DOID:10854 ! salivary gland disease

[Term]
id: DOID:9003133
name: Hypertelorism
alt_id: MIM:145400
def: "Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid." [MESH:D006972]
synonym: "Hypertelorisms" EXACT []
xref: MESH:D006972
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003134
name: tracheal neoplasm
def: "This is a new abnormal growth of tissue that involves the trachea." [EFO:1001437]
synonym: "EFO:1001437" RELATED []
synonym: "neoplasm of trachea" EXACT []
synonym: "tracheal tumor" EXACT []
synonym: "trachea neoplasm" EXACT []
synonym: "trachea tumor" EXACT []
synonym: "tumor of trachea" EXACT []
xref: EFO:1001437
xref: MONDO:0021210
xref: NCI:C3419
is_a: DOID:3225 ! tracheal disease
is_a: DOID:9003744 ! Respiratory Tract Neoplasms
created_by: slaulede
creation_date: 2022-09-13T14:00:25Z

[Term]
id: DOID:9003135
name: Chromosome 8, Mosaic Trisomy
synonym: "Trisomy 8 Mosaicism" EXACT []
synonym: "Uniparental disomy of 8" EXACT []
xref: MESH:C537940
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:9003136
name: Familial Acne Inversa 1
synonym: "ACNINV1" EXACT []
synonym: "NCSTN-RELATED CONDITION" EXACT []
xref: MIM:142690
is_a: DOID:9008895 ! Familial Hidradenitis Suppurativa
created_by: mtutaj
creation_date: 2021-07-16T16:02:31Z

[Term]
id: DOID:9003137
name: Photophobia
def: "Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS." [MESH:D020795]
synonym: "Light Sensitivities" EXACT []
synonym: "Light Sensitivity" EXACT []
synonym: "Photophobias" EXACT []
xref: MESH:D020795
xref: RDO:0001514
is_a: DOID:9000343 ! Vision Disorders

[Term]
id: DOID:9003138
name: Familial Multiple Coagulation Factor Deficiency VI
alt_id: MIM:134540
synonym: "combined deficiency of factor IX and factor XI" EXACT []
synonym: "FMFD VI" EXACT []
synonym: "MCFD6" EXACT []
synonym: "Multiple Coagulation Factor Deficiency VI" EXACT []
xref: MESH:C565022
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:9003139
name: Cardiac Fibrosis
def: "A pathological condition where fibrous connective tissue invades the heart, usually as a consequence of inflammation or other injury." []
synonym: "atrial fibrosis" RELATED []
synonym: "heart fibrosis" EXACT []
synonym: "myocardial fibrosis" RELATED []
is_a: DOID:114 ! heart disease
is_a: DOID:9000784 ! Fibrosis

[Term]
id: DOID:9003140
name: Peptide Growth Factors Deficiency
synonym: "Hoepffner dreyer reimers syndrome" EXACT []
synonym: "Peptidic growth factors deficiency" EXACT []
xref: MESH:C536656
xref: RDO:0002297
is_a: DOID:5688 ! Werner syndrome

[Term]
id: DOID:9003141
name: Acquired Pure Megakaryocytic Aplasia
xref: MESH:C538176
xref: RDO:0004118
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:4961 ! bone marrow disease

[Term]
id: DOID:9003142
name: Massa Casaer Ceulemans Syndrome
synonym: "Arthrogryposis multiplex congenita associated with lissencephaly" EXACT []
xref: MESH:C536031
xref: RDO:0001443
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9003143
name: Hyperparathyroidism 4
synonym: "HRPT4" EXACT []
xref: MIM:617343
is_a: DOID:13543 ! hyperparathyroidism

[Term]
id: DOID:9003144
name: Jejunal Diseases
def: "Pathological development in the JEJUNUM region of the SMALL INTESTINE." [MESH:D007579]
synonym: "Jejunal Disease" EXACT []
xref: MESH:D007579
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:9003145
name: Nuchal Bleb, Familial
alt_id: MIM:257350
alt_id: RDO:0003764
synonym: "Fetal cystic hygroma" EXACT []
xref: MESH:C537852
is_a: DOID:3081 ! cystic lymphangioma
is_a: DOID:9008386 ! Hydrops Fetalis

[Term]
id: DOID:9003146
name: Uterine Rupture
def: "A complete separation or tear in the wall of the UTERUS with or without expulsion of the FETUS. It may be due to injuries, multiple pregnancies, large fetus, previous scarring, or obstruction." [MESH:D014597]
synonym: "Uterine Ruptures" EXACT []
xref: MESH:D014597
is_a: DOID:345 ! uterine disease
is_a: DOID:9000610 ! Obstetric Labor Complications
is_a: DOID:9005630 ! Rupture

[Term]
id: DOID:9003148
name: Familial Dwarfism with Muscle Spasms
alt_id: MIM:600771
xref: MESH:C563447
is_a: DOID:9006743 ! Spasm
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9003149
name: 2-Methylbutyryl-CoA Dehydrogenase Deficiency
alt_id: MIM:610006
synonym: "2-MBCD Deficiency" EXACT []
synonym: "2-methylbutyric aciduria" EXACT []
synonym: "2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency" EXACT []
synonym: "2-Methylbutyryl Glycinuria" EXACT []
synonym: "DEFICIENCY OF 2-METHYLBUTYRYL-COA DEHYDROGENASE" EXACT []
synonym: "SBCADD" EXACT []
synonym: "SBCAD deficiency" EXACT []
synonym: "short-branched-chain acyl-CoA dehydrogenase deficiency" EXACT []
xref: GARD:10322
xref: MESH:C566487
xref: ORDO:79157
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9003150
name: Brenner Tumor
def: "A smooth, solid or cystic fibroepithelial (FIBROEPITHELIAL NEOPLASMS) tumor, usually found in the OVARIES but can also be found in the adnexal region and the KIDNEYS. It consists of a fibrous stroma with nests of epithelial cells that sometimes resemble the transitional cells lining the urinary bladder. Brenner tumors generally are benign and asymptomatic. Malignant Brenner tumors have been reported." []
synonym: "benign Brenner tumor" NARROW []
synonym: "proliferative Brenner tumor" EXACT []
xref: MESH:D001948
is_a: DOID:9002762 ! Ovarian Neoplasms
is_a: DOID:9007017 ! Fibroepithelial Neoplasms
created_by: rgd
creation_date: 2016-02-11T00:00:00Z

[Term]
id: DOID:9003151
name: Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
xref: MESH:C563529
xref: RDO:0012762
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:9003152
name: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES
def: "A disease characterized by rhizomelic shortening of upper and lower extremities and variable dysmorphic features, including macrocephaly, prominent forehead, depressed or broad nasal bridge, and micrognathia." [MIM:618821]
synonym: "RLSDF" EXACT []
xref: MIM:618821
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2020-08-17T17:38:40Z

[Term]
id: DOID:9003153
name: FUCOSYLTRANSFERASE 6 DEFICIENCY
xref: MIM:613852
xref: RDO:9001362
is_a: DOID:655 ! inherited metabolic disorder
created_by: rgd
creation_date: 2017-02-17T00:00:00Z

[Term]
id: DOID:9003154
name: Nodding Syndrome
def: "Unexplained neurologic condition characterized by episodes of atonic seizures, convulsions or staring spells with further cognitive decline." [MESH:D064128]
synonym: "Nodding Syndromes" EXACT []
xref: MESH:D064128
xref: RDO:0015832
is_a: DOID:225 ! syndrome
is_a: DOID:9001793 ! Generalized Epilepsy

[Term]
id: DOID:9003155
name: Parasitic Liver Diseases
def: "Liver diseases caused by infections with PARASITES, such as tapeworms (CESTODA) and flukes (TREMATODA)." [MESH:D008109]
synonym: "Parasitic Liver Disease" EXACT []
xref: MESH:D008109
is_a: DOID:1398 ! parasitic infectious disease
is_a: DOID:409 ! liver disease

[Term]
id: DOID:9003156
name: Peroxisome Biogenesis Disorder, Complementation Group 13
xref: MESH:C566625
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9003157
name: Respiratory Sounds
def: "Noises, normal and abnormal, heard on auscultation over any part of the RESPIRATORY TRACT." [MESH:D012135]
synonym: "Breathing Sound" EXACT []
synonym: "Breathing Sounds" EXACT []
synonym: "Crackle" EXACT []
synonym: "Crackles" EXACT []
synonym: "Lung Sound" EXACT []
synonym: "Lung Sounds" EXACT []
synonym: "Pleural Rub" EXACT []
synonym: "Pleural Rubs" EXACT []
synonym: "Rale" EXACT []
synonym: "Rales" EXACT []
synonym: "Respiratory Sound" EXACT []
synonym: "Rhonchi" EXACT []
synonym: "Rhonchus" EXACT []
synonym: "Stridor" EXACT []
synonym: "Stridors" EXACT []
synonym: "Wheezing" EXACT []
synonym: "Wheezings" EXACT []
xref: EFO:0009715
xref: MESH:D012135
xref: RDO:0006477
is_a: DOID:9000575 ! Respiratory Signs and Symptoms

[Term]
id: DOID:9003158
name: Chromosome 6, monosomy 6q2
synonym: "Deletion 6q2" EXACT []
synonym: "Monosomy 6q2" EXACT []
xref: MESH:C537809
xref: RDO:0003713
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9003159
name: Nonsyndromic Deafness, Modifier 1
alt_id: RDO:0008979
synonym: "DFNM1" EXACT []
xref: MIM:605429
is_a: DOID:0050563 ! nonsyndromic deafness

[Term]
id: DOID:9003160
name: Pancytopenia and Occlusive Vascular Disease
alt_id: MIM:167850
xref: MESH:C566836
is_a: DOID:12450 ! pancytopenia
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:9003162
name: Congenital Sulfhemoglobinemia
alt_id: MIM:185460
xref: MESH:C566102
is_a: DOID:12451 ! sulfhemoglobinemia

[Term]
id: DOID:9003163
name: Heart Block
alt_id: MIM:209600
def: "Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the SINOATRIAL NODE and the right atrium (SA block) or between atria and ventricles (AV block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects." [MESH:D006327]
synonym: "Atrioventricular Dissociation" EXACT []
synonym: "Atrioventricular Dissociations" EXACT []
synonym: "Auriculo Ventricular Dissociation" EXACT []
synonym: "Auriculo-Ventricular Dissociations" EXACT []
synonym: "A V Dissociation" EXACT []
synonym: "A-V Dissociations" EXACT []
synonym: "CONDUCTION DISORDER OF THE HEART" EXACT []
synonym: "Heart Blocks" EXACT []
xref: MESH:D006327
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:9003164
name: Hereditary Essential Tremor and Idiopathic Normal Pressure Hydrocephalus
alt_id: MIM:611808
synonym: "ETINPH" EXACT []
xref: MESH:C567519
is_a: DOID:1572 ! normal pressure hydrocephalus
is_a: DOID:4990 ! essential tremor

[Term]
id: DOID:9003165
name: Miosis
def: "Pupillary constriction. This may result from congenital absence of the dilatator pupillary muscle, defective sympathetic innervation, or irritation of the CONJUNCTIVA or CORNEA." [MESH:D015877]
synonym: "Constricted Pupil" EXACT []
synonym: "Constricted Pupils" EXACT []
synonym: "Mioses" EXACT []
synonym: "Persistent Mioses" EXACT []
synonym: "Persistent Miosis" EXACT []
synonym: "Pupillary Mioses" EXACT []
synonym: "Pupillary Miosis" EXACT []
synonym: "Small Pupil" EXACT []
synonym: "Small Pupils" EXACT []
xref: MESH:D015877
is_a: DOID:238 ! pupil disease

[Term]
id: DOID:9003166
name: Corticosteroid-Binding Globulin, Elevated
xref: MESH:C566934
xref: RDO:0015142
is_a: DOID:620 ! blood protein disease

[Term]
id: DOID:9003167
name: Submacular Cysticercosis
xref: MESH:C531662
xref: RDO:0000089
is_a: DOID:10079 ! cysticercosis

[Term]
id: DOID:9003168
name: Diarrhea prodrome + Hemolytic-Uremic Syndrome
synonym: "Diarrhea prodrome + HUS" EXACT []
xref: MESH:C531700
is_a: DOID:12554 ! hemolytic-uremic syndrome
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9003169
name: Presenile Dementia, Kraepelin Type
alt_id: MIM:176600
synonym: "Catatonia of Kraepelin" EXACT []
synonym: "Kraepelin disease" EXACT []
xref: MESH:C535273
is_a: DOID:1307 ! dementia
is_a: DOID:9008639 ! Catatonia

[Term]
id: DOID:9003170
name: Mungan Syndrome
alt_id: MIM:611376
synonym: "chronic idiopathic intestinal pseudoobstruction, with Barrett esophagus and cardiac abnormalities" EXACT []
synonym: "familial visceral neuromyopathy, with pseudoobstruction, megaduodenum, Barrett esophagus, and cardiac abnormalities" EXACT []
synonym: "MGS" EXACT []
synonym: "RAD21-RELATED CONDITION" BROAD []
xref: MESH:C548078
is_a: DOID:0080072 ! intestinal pseudo-obstruction
is_a: DOID:225 ! syndrome
is_a: DOID:9206 ! Barrett's esophagus

[Term]
id: DOID:9003171
name: Primary Dysautonomias
def: "Disorders of the AUTONOMIC NERVOUS SYSTEM occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the BLOOD PRESSURE and HEART RATE." [MESH:D054969]
synonym: "dysautonomia" EXACT []
synonym: "dysautonomias" EXACT []
synonym: "primary dysautonomia" EXACT []
xref: MESH:D054969
is_a: DOID:11465 ! autonomic nervous system disease

[Term]
id: DOID:9003172
name: X-Linked Modifier for Neurofunctional Defects
alt_id: MIM:309840
synonym: "Tourette Syndrome, Modifier of" EXACT []
xref: MESH:C564098
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:11119 ! Gilles de la Tourette syndrome

[Term]
id: DOID:9003173
name: Desmin Storage Myopathy
synonym: "Cardiomyopathy due to desmin defect" EXACT []
synonym: "Myopathy with sarcoplasmic bodies and intermediate filaments" EXACT []
xref: MESH:C536103
is_a: DOID:0080307 ! myofibrillar myopathy
is_a: DOID:3429 ! inclusion body myositis

[Term]
id: DOID:9003174
name: Second Metatarsal-Metacarpal Syndrome
alt_id: MIM:269630
xref: MESH:C564824
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9003175
name: Bartonellaceae Infections
def: "Infections with bacteria of the family BARTONELLACEAE." [MESH:D001476]
synonym: "Bartonellaceae Infection" EXACT []
synonym: "primary Bartonellaceae infectious disease" EXACT []
xref: EFO:1001125
xref: MESH:D001476
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9003176
name: Familial Melanoma, Malignant Intraocular
alt_id: MIM:155700
xref: MESH:C563596
is_a: DOID:6846 ! familial melanoma
is_a: DOID:9004059 ! Eye Neoplasms

[Term]
id: DOID:9003177
name: Kowarski Syndrome
alt_id: MIM:262650
synonym: "BIODEFECTIVE GROWTH HORMONE" EXACT []
synonym: "Nanism due to growth hormone qualitative anomaly" EXACT []
synonym: "Pituitary dwarfism 4" EXACT []
synonym: "Pituitary dwarfism with normal immunoreactive growth hormone" EXACT []
synonym: "Pituitary Dwarfism With Normal Immunoreactive Growth Hormone And Low Somatomedin" EXACT []
xref: MESH:C537505
is_a: DOID:0060870 ! isolated growth hormone deficiency
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9003178
name: Familial Platelet Disorder with Associated Myeloid Malignancy
alt_id: MIM:601399
alt_id: RDO:0012615
synonym: "FPD/AML" EXACT []
synonym: "FPDAML" EXACT []
synonym: "FPDMM" EXACT []
synonym: "HEREDITARY THROMBOCYTOPENIA AND HEMATOLOGICAL CANCER PREDISPOSITION SYNDROME ASSOCIATED WITH RUNX1" EXACT []
synonym: "HEREDITARY THROMBOCYTOPENIA AND HEMATOLOGIC CANCER PREDISPOSITION SYNDROME" EXACT []
synonym: "Platelet Disorder, Aspirin-Like" EXACT []
synonym: "PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY" EXACT []
synonym: "Thrombocytopenia, Familial, with Propensity to Acute Myelogenous Leukemia" EXACT []
xref: MESH:C563324
xref: NCI:C162696
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease
is_a: DOID:9119 ! acute myeloid leukemia

[Term]
id: DOID:9003179
name: Bankart Lesions
def: "An anterior capsulolabral injury associated with a tear of the anteroinferior GLENOID LABRUM." [MESH:D000070896]
synonym: "Bankart Fractures" EXACT []
synonym: "Bankart Lesion" EXACT []
synonym: "Bankart Tears" EXACT []
synonym: "Bony Bankart Lesion" EXACT []
synonym: "Bony Bankart Lesions" EXACT []
synonym: "Hill Sachs Lesion" EXACT []
synonym: "Hill Sachs Lesions" EXACT []
synonym: "Osseous Bankart Lesion" EXACT []
synonym: "Osseous Bankart Lesions" EXACT []
xref: MESH:D000070896
is_a: DOID:9004624 ! Shoulder Fractures

[Term]
id: DOID:9003180
name: Chronic Diarrhea with Villous Atrophy
alt_id: MIM:520100
xref: MESH:C564019
is_a: DOID:13250 ! diarrhea

[Term]
id: DOID:9003181
name: Heartburn
def: "Substernal pain or burning sensation, usually associated with regurgitation of gastric juice into the esophagus." [MESH:D006356]
synonym: "Pyroses" EXACT []
synonym: "Pyrosis" EXACT []
xref: MESH:D006356
xref: RDO:0005730
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:9003182
name: Parenti-Mignot Neurodevelopmental Syndrome
def: "An autosomal dominant neurodevelopmental disorder frequently characterized by impaired intellectual development, speech delay, motor delay, behavioral problems, and epilepsy. Caused by heterozygous mutation in the CHD5 gene on chromosome 1p36." [MIM:619873]
synonym: "PMNDS" EXACT []
xref: MIM:619873
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008514 ! Psychomotor Disorders
created_by: mtutaj
creation_date: 2022-11-14T13:53:58Z

[Term]
id: DOID:9003183
name: Seemanova Lesny Syndrome
xref: MESH:C537536
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007428 ! Muscle Spasticity
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9003184
name: Campomelic Dysplasia with Autosomal Sex Reversal
xref: MESH:C564282
xref: RDO:0013301
is_a: DOID:0050463 ! campomelic dysplasia
is_a: DOID:1923 ! disorder of sexual development

[Term]
id: DOID:9003187
name: Spinocerebellar Atrophy with Pupillary Paralysis
alt_id: MIM:183100
xref: MESH:C566668
is_a: DOID:14784 ! olivopontocerebellar atrophy

[Term]
id: DOID:9003188
name: Neural Crest Tumor
synonym: "Neural crest-derived tumors" EXACT []
xref: MESH:C536408
is_a: DOID:9000362 ! Adrenal Gland Neoplasms

[Term]
id: DOID:9003189
name: Plant Poisoning
def: "Poisoning by the ingestion of plants or its leaves, berries, roots or stalks. The manifestations in both humans and animals vary in severity from mild to life threatening. In animals, especially domestic animals, it is usually the result of ingesting moldy or fermented forage." [MESH:D010939]
synonym: "Plant Poisonings" EXACT []
xref: MESH:D010939
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:9003190
name: Nguyen Syndrome
alt_id: MIM:609643
synonym: "MCA/MR WITH HYPOCHOLESTEROLEMIA DUE TO FAMILIAL HYPOBETALIPOPROTEINEMIA" EXACT []
xref: MESH:C536115
is_a: DOID:1390 ! hypobetalipoproteinemia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9003191
name: Vascular Malformations
def: "A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely affect the normal blood flow in ARTERIES or VEINS. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the CAPILLARIES (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases." [MESH:D054079]
synonym: "gastrointestinal vascular malformation" NARROW []
synonym: "GIVM" NARROW []
synonym: "Vascular Malformation" EXACT []
xref: EFO:0006888
xref: MESH:D054079
xref: RDO:0004910
is_a: DOID:9002682 ! Cardiovascular Abnormalities

[Term]
id: DOID:9003193
name: Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction
def: "Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) is an autosomal recessive neurologic disorder with a highly variable phenotype. At the severe end of the spectrum, patients may have hypotonia apparent from birth, necessitating mechanical respiration and tube-feeding, and global developmental delay with absence of reaction to touch and no eye contact. At the mild end of the spectrum, patients may present with infantile-onset progressive ataxia and demyelinating peripheral neuropathy. The disorder is caused by mutation in the NFASC gene, which has several neuronal- and glial-specific transcripts. The variable clinical phenotype may be caused by several factors, including the severity of the mutation, the selective involvement of distinct isoforms by pathogenic variants, and the presence of genetic modifiers. NEDCPMD is caused by homozygous mutation in the NFASC gene on chromosome 1q32. (OMIM)" []
synonym: "NEDCPMD" EXACT []
xref: MIM:618356
is_a: DOID:11465 ! autonomic nervous system disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: gthayman
creation_date: 2019-03-15T15:34:28Z

[Term]
id: DOID:9003194
name: Eye Pain
def: "A dull or sharp painful sensation associated with the outer or inner structures of the eyeball, having different causes." [MESH:D058447]
synonym: "Eye Pains" EXACT []
xref: MESH:D058447
is_a: DOID:9000641 ! Pain
is_a: DOID:9001020 ! Eye Manifestations

[Term]
id: DOID:9003195
name: Hereditary Angioedema 7
def: "An autosomal dominant disorder characterized by onset of recurrent episodic swelling of the face, lips, and oral mucosa in the second decade. Caused by heterozygous mutation in the MYOF gene on chromosome 10q24." [MIM:619366]
synonym: "HAE7" EXACT []
synonym: "MYOF-RELATED CONDITION" EXACT []
xref: MIM:619366
is_a: DOID:14735 ! hereditary angioedema
created_by: mtutaj
creation_date: 2021-06-11T11:56:41Z

[Term]
id: DOID:9003196
name: Penile Neoplasms
def: "Cancers or tumors of the PENIS or of its component tissues." [MESH:D010412]
synonym: "neoplasm of penis" EXACT []
synonym: "penile neoplasm" EXACT []
synonym: "penile tumor" EXACT []
synonym: "penis neoplasm" EXACT []
synonym: "penis neoplasms" EXACT []
xref: EFO:1001094
xref: MESH:D010412
xref: NCI:C3317
is_a: DOID:1529 ! penile disease
is_a: DOID:9003125 ! Male Genital Neoplasms
created_by: mtutaj
creation_date: 2020-04-21T07:14:33Z

[Term]
id: DOID:9003197
name: Vaso-occlusive Crisis
def: "A common painful complication of sickle cell anemia in adolescents and adults." []
synonym: "Hemoglobin SS disease with vasoocclusive crisis" EXACT []
is_a: DOID:10923 ! sickle cell anemia
created_by: rgd
creation_date: 2016-06-06T00:00:00Z

[Term]
id: DOID:9003198
name: Cardiac Papillary Fibroelastoma
def: "Primary tumors, predominantly of the CARDIAC VALVES, characterized by multiple papillary frond structures. Although histologically benign, they may result in complications (e.g., valve dysfunction, EMBOLISM; STROKE; and SUDDEN DEATH). (MESH)" []
synonym: "Papillary Fibroelastoma" EXACT []
xref: MESH:D000084122
is_a: DOID:4079 ! heart valve disease
is_a: DOID:9006547 ! Heart Neoplasms
created_by: mtutaj
creation_date: 2020-12-21T20:53:26Z

[Term]
id: DOID:9003199
name: Systemic Vasculitis
def: "A heterogeneous group of diseases characterized by inflammation and necrosis of the blood vessel walls." [MESH:D056647]
synonym: "SNV" EXACT []
synonym: "Systemic necrotizing vasculitis" EXACT []
synonym: "Systemic Vasculitides" EXACT []
xref: MESH:D056647
is_a: DOID:865 ! vasculitis

[Term]
id: DOID:9003201
name: Westphal Disease
synonym: "Westphal variant of Huntington's disease" EXACT []
xref: MESH:C536694
xref: RDO:0002345
is_a: DOID:12858 ! Huntington's disease
is_a: DOID:893 ! Wilson disease

[Term]
id: DOID:9003202
name: Pulmonary Hemorrhage
synonym: "Hemorrhagic Lung" EXACT []
synonym: "Intra-Alveolar Hemorrhage" EXACT []
xref: RDO:9000749
is_a: DOID:850 ! lung disease
is_a: DOID:9000575 ! Respiratory Signs and Symptoms
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9003203
name: Intra-Articular Fractures
def: "Fractures of the articular surface of a bone." [MESH:D057072]
synonym: "Intra-Articular Fracture" EXACT []
synonym: "Intraarticular Fracture" EXACT []
synonym: "Intraarticular Fractures" EXACT []
xref: MESH:D057072
xref: RDO:0007775
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9003204
name: Neovascularization, Pathologic
def: "A pathologic process consisting of the proliferation of blood vessels in abnormal tissues or in abnormal positions." [MESH:D009389]
synonym: "Pathological Angiogenesis" EXACT []
synonym: "Pathological Neovascularization" EXACT []
synonym: "Pathologic Angiogenesis" EXACT []
xref: MESH:D009389
xref: RDO:0003942
is_a: DOID:9000156 ! Metaplasia

[Term]
id: DOID:9003205
name: Heart-Hand Syndrome, Slovenian Type
alt_id: MIM:610140
xref: MESH:C535852
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9006138 ! Laminopathies

[Term]
id: DOID:9003206
name: Renal Dysplasia - Limb Defects Syndrome
alt_id: MIM:266910
synonym: "Renal dysplasia, mesomelia, and radiohumeral fusion" EXACT []
synonym: "Ulbright Hodes syndrome" EXACT []
xref: MESH:C537754
is_a: DOID:225 ! syndrome
is_a: DOID:557 ! kidney disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9003207
name: Fibrinolytic Defect
alt_id: MIM:134900
xref: MESH:C565017
is_a: DOID:1247 ! blood coagulation disease

[Term]
id: DOID:9003208
name: Progressive Psychomotor Deterioration
synonym: "Neurologic deterioration" EXACT []
synonym: "Progressive mental deterioration" EXACT []
synonym: "Progressive neurodegeneration" EXACT []
synonym: "Worsening neurological symptoms" EXACT []
xref: HP:0002344
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9002775 ! Cognitive Dysfunction
created_by: slaulede
creation_date: 2020-03-17T17:11:32Z

[Term]
id: DOID:9003209
name: Bacterial Skin Diseases
def: "Skin diseases caused by bacteria." [MESH:D017192]
synonym: "Bacterial Skin Disease" EXACT []
xref: MESH:D017192
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:9000859 ! Infectious Skin Diseases

[Term]
id: DOID:9003211
name: Chromosome 9, Trisomy 9q
synonym: "Duplication 9q" EXACT []
synonym: "Trisomy 9q" EXACT []
xref: MESH:C538030
xref: RDO:0003964
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9003212
name: Visceral Heterotaxy 6, Autosomal
synonym: "HTX6" EXACT []
xref: MIM:614779
is_a: DOID:0050545 ! visceral heterotaxy

[Term]
id: DOID:9003213
name: Familial Synovial Chondromatosis with Dwarfism
alt_id: MIM:186575
xref: MESH:C566087
is_a: DOID:9001695 ! Synovial Chondromatosis
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9003214
name: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
synonym: "JAK3-RELATED CONDITION" EXACT []
synonym: "SCID, autosomal recessive, T-negative/B-positive type" EXACT []
synonym: "SCID, T Cell-Negative, B Cell-Positive, NK Cell-Negative" EXACT []
xref: MESH:C563440
xref: MIM:600802
xref: MONDO:0010938
xref: ORDO:35078
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:9003215
name: Brachydactyly Type A5 Nail Dysplasia
synonym: "Absent middle phalanges of digits 2-5 with nail dysplasia" EXACT []
synonym: "Brachydactyly, Type A5, With Nail Dysplasia" EXACT []
xref: MESH:C537091
xref: RDO:0002865
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:4123 ! nail disease

[Term]
id: DOID:9003216
name: Salivary Gland Neoplasms
def: "Tumors or cancer of the SALIVARY GLANDS." [MESH:D012468]
synonym: "Benign Salivary Gland Myoepithelioma" NARROW []
synonym: "Salivary Gland Neoplasm" EXACT []
xref: EFO:0003826
xref: EFO:1000119
xref: MESH:D012468
is_a: DOID:10854 ! salivary gland disease
is_a: DOID:9007364 ! Mouth Neoplasms

[Term]
id: DOID:9003217
name: Prepapillary Vascular Loops
alt_id: MIM:264060
synonym: "Preretinal Vascular Loops" EXACT []
xref: MESH:C563287
is_a: DOID:9003191 ! Vascular Malformations
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9003218
name: Distal Arthrogryposis, Moore Weaver Type
alt_id: RDO:0002506
synonym: "Moore Weaver syndrome" EXACT []
xref: MESH:C536814
is_a: DOID:0050646 ! distal arthrogryposis

[Term]
id: DOID:9003219
name: Invasive Pulmonary Aspergillosis
def: "Lung infections with the invasive forms of ASPERGILLUS, usually after surgery, transplantation, prolonged NEUTROPENIA or treatment with high-doses of CORTICOSTEROIDS. Invasive pulmonary aspergillosis can progress to CHRONIC NECROTIZING PULMONARY ASPERGILLOSIS or hematogenous spread to other organs." [MESH:D055744]
synonym: "Allergic Bronchopulmonary Mycoses" EXACT []
synonym: "Allergic Bronchopulmonary Mycosis" EXACT []
synonym: "Chronic Necrotizing Pulmonary Aspergillosis" EXACT []
synonym: "Invasive Pulmonary Aspergilloses" EXACT []
synonym: "IPA" EXACT []
xref: MESH:D055744
is_a: DOID:0050073 ! invasive aspergillosis
is_a: DOID:9006058 ! Invasive Fungal Infections

[Term]
id: DOID:9003220
name: Immunodeficiency due to Ficolin 3 Deficiency
synonym: "FCN3 Deficiency" EXACT []
synonym: "Ficolin 3 Deficiency" EXACT []
synonym: "LCAPD3" EXACT []
synonym: "LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3" EXACT []
xref: MIM:613860
is_a: DOID:9002118 ! Lectin Complement Activation Pathway Defects

[Term]
id: DOID:9003221
name: Progressive Mucinous Histiocytosis
alt_id: MIM:142630
xref: MESH:C564186
is_a: DOID:3405 ! histiocytosis
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms

[Term]
id: DOID:9003222
name: Platelet granule deficiency disorder
xref: MESH:C531691
xref: RDO:0000114
is_a: DOID:0111044 ! gray platelet syndrome

[Term]
id: DOID:9003223
name: Corneal Graft Rejection
def: "A process in which a transplant recipient's immune system attacks the transplanted cornea. Each layer of the cornea can undergo rejection, endothelial rejection being the most severe form." []
synonym: "corneal transplant rejection" EXACT []
xref: RDO:9000102
is_a: DOID:10124 ! corneal disease
is_a: DOID:9004283 ! Transplant Rejection

[Term]
id: DOID:9003224
name: Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features
alt_id: MIM:609944
xref: MESH:C536182
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9003225
name: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME
def: "A disease characterized by phenotypic diversity, with patients exhibiting a range of overlapping phenotypes, including abnormalities of fingers and toes. Brain imaging shows hypoplasia of the corpus callosum, prominence of lateral ventricles, and/or white matter abnormalities." [MIM:618914]
synonym: "FBXW11-RELATED NEURODEVELOPMENTAL, BRAIN, EYE, AND DIGIT ANOMALIES" EXACT []
synonym: "MIM:618914" EXACT []
synonym: "NEDJED" EXACT []
xref: MIM:618914
is_a: DOID:5614 ! eye disease
is_a: DOID:9003876 ! Jaw Diseases
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006294 ! Congenital Limb Deformities
created_by: slaulede
creation_date: 2020-11-09T18:25:04Z

[Term]
id: DOID:9003226
name: Parotid Aplasia or Hypoplasia
xref: MESH:C566702
xref: RDO:0014981
is_a: DOID:10302 ! parotid disease

[Term]
id: DOID:9003228
name: Tooth Loss
def: "The failure to retain teeth as a result of disease or injury." [MESH:D016388]
xref: MESH:D016388
is_a: DOID:1091 ! tooth disease
is_a: DOID:3388 ! periodontal disease

[Term]
id: DOID:9003229
name: Rh-Null Disease, Amorph Type
alt_id: MIM:111700
alt_id: MIM:617970
def: "The amorph RH-null phenotype arises from mutations at the RH locus itself that silence Rh expression and cause mild to moderate hemolytic anemia. Red blood cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. (OMIM)" []
synonym: "amorph type of RH-null phenotype" EXACT []
synonym: "BLOOD GROUP--RHESUS SYSTEM Cc/Ee POLYPEPTIDE" RELATED []
synonym: "RHESUS BLOOD GROUP, CcEe ANTIGENS" RELATED []
synonym: "RHNA" EXACT []
synonym: "RH-null, amorph type" EXACT []
xref: MESH:C566210
is_a: DOID:589 ! congenital hemolytic anemia

[Term]
id: DOID:9003230
name: Graft Occlusion, Vascular
def: "Obstruction of flow in biological or prosthetic vascular grafts." [MESH:D006083]
synonym: "GCAD" EXACT []
synonym: "Graft Coronary Artery Disease" EXACT []
synonym: "Graft Restenoses, Vascular" EXACT []
synonym: "Vascular Graft Restenosis" EXACT []
synonym: "vein graft stenosis" NARROW []
xref: EFO:0007051
xref: MESH:D006083
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9003232
name: Kallmann Syndrome 5
xref: MESH:C567220
is_a: DOID:0090084 ! hypogonadotropic hypogonadism 5 with or without anosmia
is_a: DOID:3614 ! Kallmann syndrome

[Term]
id: DOID:9003233
name: Furcation Defects
def: "Conditions in which a bifurcation or trifurcation of the molar tooth root becomes denuded as a result of periodontal disease. It may be followed by tooth mobility, temperature sensitivity, pain, and alveolar bone resorption." [MESH:D017823]
synonym: "Furcation Defect" EXACT []
xref: MESH:D017823
xref: RDO:0007083
is_a: DOID:3388 ! periodontal disease

[Term]
id: DOID:9003234
name: Hypertensive Nephropathy
alt_id: MIM:608026
synonym: "HNP1" EXACT []
xref: MESH:C563161
xref: RDO:0012537
is_a: DOID:1073 ! renal hypertension
is_a: DOID:10952 ! nephritis

[Term]
id: DOID:9003235
name: Trichodental Syndrome
alt_id: MIM:601453
synonym: "Tricho-dental dysplasia" EXACT []
synonym: "Trichodental dysplasia" EXACT []
synonym: "Tricho-dental syndrome" EXACT []
xref: MESH:C536551
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9001034 ! Odontodysplasia

[Term]
id: DOID:9003236
name: Sacral Plexopathy
xref: MESH:C537224
is_a: DOID:574 ! peripheral nervous system disease

[Term]
id: DOID:9003237
name: Cardiovascular Infections
def: "Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infections." [MESH:D053821]
synonym: "Cardiovascular Infection" EXACT []
xref: MESH:D053821
is_a: DOID:1287 ! cardiovascular system disease

[Term]
id: DOID:9003238
name: Accutane Embryopathy
synonym: "Accutane-exposed pregnancies" EXACT []
synonym: "Isotretinoin (RoAccutane) embryopathy" EXACT []
synonym: "Isotretinoin embryopathy" EXACT []
xref: MESH:C535670
xref: RDO:0000921
is_a: DOID:9007828 ! Abnormalities, Drug-Induced

[Term]
id: DOID:9003239
name: Femoral Facial Syndrome
synonym: "Femoral dysgenesis, bilateral" EXACT []
synonym: "Femoral dysgenesis, bilateral-Robin anomaly" EXACT []
synonym: "Femoral hypoplasia-unusual facies syndrome" EXACT []
synonym: "FFS" EXACT []
synonym: "FHUFS" EXACT []
xref: GARD:61
xref: MESH:C537916
xref: MIM:134780
xref: MONDO:0007604
xref: ORDO:1988
is_a: DOID:225 ! syndrome
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome

[Term]
id: DOID:9003240
name: Tay-Sachs Disease, Variant B1
synonym: "HEXA, Czechoslovakian Allele" RELATED []
xref: MESH:C564785
is_a: DOID:3320 ! Tay-Sachs disease

[Term]
id: DOID:9003241
name: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME
def: "This disease is characterized by global developmental delay with speech delay and behavioral abnormalities, including autism spectrum disorder and ADHD. Affected individuals also show movement disorders, such as dyspraxia and apraxia." [MIM:619680]
synonym: "MASNS" EXACT []
xref: MIM:619680
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2022-02-08T15:23:52Z

[Term]
id: DOID:9003242
name: Paresthesia
def: "Subjective cutaneous sensations (e.g., cold, warmth, tingling, pressure, etc.) that are experienced spontaneously in the absence of stimulation." [MESH:D010292]
synonym: "Distal Paresthesia" EXACT []
synonym: "distal paresthesias" EXACT []
synonym: "Dysesthesia" EXACT []
synonym: "Dysesthesias" EXACT []
synonym: "Formication" EXACT []
synonym: "Formications" EXACT []
synonym: "Painful Paresthesia" EXACT []
synonym: "Painful Paresthesias" EXACT []
synonym: "paresthesias" EXACT []
xref: MESH:D010292
is_a: DOID:9008625 ! Somatosensory Disorders

[Term]
id: DOID:9003243
name: Watermelon Stomach Disease
xref: MESH:C538665
xref: RDO:0004584
is_a: DOID:2493 ! gastric antral vascular ectasia

[Term]
id: DOID:9003245
name: Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency
alt_id: MIM:610842
synonym: "GGCX-RELATED CONDITION" BROAD []
synonym: "PXE-Like Disorder with Multiple Coagulation Factor Deficiency" EXACT []
xref: MESH:C563654
xref: RDO:0012853
is_a: DOID:2738 ! pseudoxanthoma elasticum
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:9003248
name: Central Serous Chorioretinopathy
def: "A visual impairment characterized by the accumulation of fluid under the retina through a defect in the retinal pigment epithelium." [MESH:D056833]
synonym: "Central Serous Chorioretinopathies" EXACT []
synonym: "Central Serous Retinopathies" EXACT []
synonym: "Central Serous Retinopathy" EXACT []
synonym: "chronic central serous chorioretinopathy" NARROW []
synonym: "type II central serous retinopathy" NARROW []
xref: EFO:0009363
xref: EFO:0009784
xref: MESH:D056833
xref: RDO:0007763
is_a: DOID:5679 ! retinal disease

[Term]
id: DOID:9003249
name: Glycosylphosphatidylinositol Biosynthesis Defect 17
def: "An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood." [MIM:618010]
synonym: "GPIBD17" EXACT []
synonym: "PIGH-RELATED CONDITION" EXACT []
xref: MIM:618010
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
created_by: slaulede
creation_date: 2018-12-06T15:26:40Z

[Term]
id: DOID:9003250
name: Cardioacrofacial Dysplasia 2
synonym: "CAFD2" EXACT []
xref: MIM:619143
is_a: DOID:9000250 ! Cardioacrofacial Dysplasia
created_by: mtutaj
creation_date: 2021-01-04T16:59:19Z

[Term]
id: DOID:9003251
name: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES
synonym: "CADEDS" EXACT []
xref: MIM:617643
xref: RDO:9005145
is_a: DOID:1826 ! epilepsy
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9277 ! primary cerebellar degeneration
created_by: rgd
creation_date: 2017-11-30T00:00:00Z

[Term]
id: DOID:9003252
name: Axial Mesodermal Dysplasia Spectrum
synonym: "Russell Weaver Bull syndrome" EXACT []
xref: MESH:C537790
is_a: DOID:10488 ! imperforate anus
is_a: DOID:2907 ! Goldenhar syndrome
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9003253
name: Myxoma
def: "A benign neoplasm derived from connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix, thereby resembling primitive mesenchymal tissue. It occurs frequently intramuscularly where it may be mistaken for a sarcoma. It appears also in the jaws and the skin. (From Stedman, 25th ed)" [MESH:D009232]
synonym: "Angiomyxoma" NARROW []
synonym: "Angiomyxomas" NARROW []
synonym: "Myxomas" EXACT []
xref: EFO:1000087
xref: MESH:D009232
is_a: DOID:9003944 ! Connective Tissue Neoplasms

[Term]
id: DOID:9003254
name: Genetic Nondisjunction
alt_id: MIM:158250
def: "The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none." [MESH:D009630]
synonym: "Genetic Non Disjunction" EXACT []
synonym: "Genetic Non-Disjunctions" EXACT []
synonym: "Genetic Nondisjunctions" EXACT []
xref: MESH:D009630
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9003255
name: Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias
def: "An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Caused by homozygous mutation in the CTNNBL1 gene on chromosome 20q11." [MIM:619846]
synonym: "IMD99" EXACT []
xref: MIM:619846
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2022-04-28T11:51:25Z

[Term]
id: DOID:9003256
name: Adrenocortical Unresponsiveness to Acth with Postreceptor Defect
alt_id: MIM:202355
synonym: "Familial Glucocorticoid Deficiency Due To Defect Distal To Acth Receptor" EXACT []
xref: MESH:C565971
is_a: DOID:3952 ! adrenal cortex disease

[Term]
id: DOID:9003258
name: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS
def: "This disease is an autosomal recessive, primarily neurologic disorder with variable manifestations." [MIM:619576]
synonym: "CABAC" EXACT []
xref: MIM:619576
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:9003163 ! Heart Block
is_a: DOID:936 ! brain disease
created_by: slaulede
creation_date: 2021-12-07T14:07:40Z

[Term]
id: DOID:9003259
name: Marles Greenberg Persaud Syndrome
alt_id: MIM:248450
synonym: "Manitoba Oculotrichoanal Syndrome" EXACT []
synonym: "Manitoba Trichoanal syndrome" EXACT []
synonym: "Marles syndrome" EXACT []
synonym: "MOTA" EXACT []
xref: MESH:C536022
is_a: DOID:12270 ! coloboma
is_a: DOID:225 ! syndrome
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9003260
name: Familial Hemiplegic Migraine 4
alt_id: MIM:607516
synonym: "familial hemiplegic migraine, type 4" EXACT []
synonym: "FHM4" EXACT []
synonym: "MGR6" EXACT []
synonym: "migraine with or without aura, susceptibility to, 6" EXACT []
xref: MESH:C564385
is_a: DOID:0060178 ! familial hemiplegic migraine
is_a: DOID:12783 ! migraine without aura

[Term]
id: DOID:9003261
name: Adnexal Diseases
def: "Diseases of the uterine appendages (ADNEXA UTERI) including diseases involving the OVARY, the FALLOPIAN TUBES, and ligaments of the uterus (BROAD LIGAMENT; ROUND LIGAMENT)." [MESH:D000291]
synonym: "Adnexal Disease" EXACT []
xref: MESH:D000291
xref: RDO:0002411
is_a: DOID:229 ! female reproductive system disease

[Term]
id: DOID:9003262
name: Sex Chromosome Disorders of Sex Development
def: "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM." [MESH:D058533]
synonym: "Sex Chromosome DSD" EXACT []
synonym: "Sex Chromosome DSDs" EXACT []
xref: MESH:D058533
xref: RDO:0000370
is_a: DOID:1923 ! disorder of sexual development
is_a: DOID:9004151 ! Sex Chromosome Disorders

[Term]
id: DOID:9003263
name: Phosphoenolpyruvate Carboxykinase Deficiency
synonym: "PHOSPHOENOLPYRUVATE CARBOXYKINASE (GTP) DEFICIENCY" EXACT []
synonym: "Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency" EXACT []
synonym: "Phosphoenolpyruvate carboxylase deficiency" EXACT []
synonym: "Phosphopyruvate carboxylase deficiency" EXACT []
xref: MESH:C536654
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:409 ! liver disease

[Term]
id: DOID:9003264
name: Mirhosseini-Holmes-Walton Syndrome
alt_id: MIM:268050
synonym: "pigmentary retinopathy and impaired intellectual development" EXACT []
synonym: "pigmentary retinopathy and mental retardation" EXACT []
synonym: "pigmentary retinopathy, mental retardation" EXACT []
xref: MESH:C538367
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9003265
name: Spondylocamptodactyly
alt_id: MIM:600000
synonym: "Camptodactyly with cervical platyspondyly" EXACT []
synonym: "Spondylo camptodactyly syndrome" EXACT []
xref: MESH:C535779
is_a: DOID:0060564 ! spinal disease
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9003267
name: Campomelia Cumming Type
alt_id: MIM:211890
synonym: "Cervical lymphocele with bowed long bones" EXACT []
synonym: "Cumming syndrome" EXACT []
xref: MESH:C537966
is_a: DOID:0050463 ! campomelic dysplasia
is_a: DOID:4347 ! lymphocele
is_a: DOID:9005988 ! Multicystic Dysplastic Kidney

[Term]
id: DOID:9003268
name: Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal
synonym: "LETHAL NEURODEVELOPMENTAL DISORDER" EXACT []
synonym: "RMFSL" EXACT []
xref: EFO:0009144
xref: MIM:614498
xref: NCI:C154618
xref: RDO:9000509
is_a: DOID:11832 ! visual epilepsy

[Term]
id: DOID:9003269
name: Sudden Cardiac Failure, Infantile
synonym: "PPA2-RELATED DISORDERS" BROAD []
synonym: "SCFI" EXACT []
xref: MIM:617222
is_a: DOID:9007925 ! Sudden Cardiac Death

[Term]
id: DOID:9003270
name: Microtia-Anotia
alt_id: MIM:600674
alt_id: OMIA:001952
xref: MESH:C563457
is_a: DOID:9001502 ! Congenital Microtia

[Term]
id: DOID:9003271
name: White Dot Syndromes
def: "A group of idiopathic multifocal posterior uveitis syndromes involving the CHOROID; RETINAL PIGMENT EPITHELIUM; and RETINA. They are characterized by multiple lesions of hypoautofluorescent dots in the FUNDUS OCULI and reduced VISUAL ACUITY. Several entities including BIRDSHOT CHORIORETINOPATHY are HLA-A ANTIGENS serotype A29 positive. (MESH)" []
synonym: "Acute Idiopathic Blind Spot Enlargement Syndrome" EXACT []
synonym: "Acute Macular Neuroretinopathy" EXACT []
synonym: "Acute Posterior Multifocal Placoid Pigment Epitheliopathy" EXACT []
synonym: "APMPPE" EXACT []
synonym: "Diffuse Subretinal Fibrosis Uveitis" EXACT []
synonym: "MEWDS" EXACT []
synonym: "Multiple Evanescent White Dot Syndrome" EXACT []
synonym: "Punctate Inner Choroidopathy" EXACT []
synonym: "Serpiginous Choroiditis" EXACT []
synonym: "Serpiginous Choroidopathy" EXACT []
synonym: "White Dot syndrome" EXACT []
xref: MESH:D000080363
is_a: DOID:12574 ! posterior uveitis
created_by: mtutaj
creation_date: 2020-01-30T12:13:08Z

[Term]
id: DOID:9003272
name: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11
def: "An autosomal recessive disorder characterized by increased susceptibility to viral encephalitis with neurotropic viruses, such as herpes simplex virus-1 (HSV-1), influenza B virus (IBV), or norovirus (NV), beginning in the first decade of life. Conferred by homozygous or compound heterozygous mutation in the DBR1 gene on chromosome 3q22. (OMIM)" [MIM:619441]
synonym: "IIAE11" EXACT []
xref: MIM:619441
xref: MONDO:0030334
is_a: DOID:9588 ! encephalitis
created_by: mtutaj
creation_date: 2021-07-27T14:34:54Z

[Term]
id: DOID:9003273
name: Chromosome 8, Trisomy
synonym: "Chromosome 8 duplication" EXACT []
synonym: "Trisomy 8" EXACT []
xref: MESH:C537942
xref: NCI:C36396
xref: RDO:0003864
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9003274
name: Fuchs Atrophia Gyrata Chorioideae et Retinae
synonym: "Fuchs gyrate atrophy" EXACT []
synonym: "Fuchs gyrate atrophy of the choroid and retina" EXACT []
xref: MESH:C538071
xref: RDO:0004005
is_a: DOID:11555 ! Fuchs' endothelial dystrophy

[Term]
id: DOID:9003275
name: Hypokalemic Tubulopathy and Deafness
def: "This disease is an autosomal recessive disorder characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness." [MIM:619406]
synonym: "HKTD" EXACT []
xref: MIM:619406
is_a: DOID:9006656 ! Familial Hypokalemia
is_a: DOID:9008681 ! Deafness
created_by: slaulede
creation_date: 2021-08-23T17:03:40Z

[Term]
id: DOID:9003276
name: Spider Bites
def: "The effects, both local and systemic, caused by the bites of SPIDERS." [MESH:D001098]
synonym: "Arachnidism" EXACT []
synonym: "Necrotic Arachnidism" EXACT []
synonym: "Spider Bite" EXACT []
xref: MESH:D001098
is_a: DOID:9002550 ! Bites and Stings

[Term]
id: DOID:9003277
name: Sammartino De Crecchio Syndrome
xref: MESH:C537229
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:2566 ! corneal dystrophy

[Term]
id: DOID:9003278
name: Neoplasm, Residual
def: "Remnant of a tumor or cancer after primary, potentially curative therapy. (Dr. Daniel Masys, written communication)" [MESH:D018365]
synonym: "Minimal Residual Disease" EXACT []
synonym: "Minimal Residual Diseases" EXACT []
synonym: "Residual Cancer" EXACT []
synonym: "Residual Cancers" EXACT []
synonym: "Residual Neoplasms" EXACT []
synonym: "Residual Tumor" EXACT []
synonym: "Residual Tumors" EXACT []
xref: MESH:D018365
xref: RDO:0007194
is_a: DOID:9008192 ! Neoplastic Processes

[Term]
id: DOID:9003279
name: Joint Dislocations
def: "Displacement of bones from their normal positions at a joint." [MESH:D004204]
synonym: "Inferior Dislocation" EXACT []
synonym: "Inferior Dislocations" EXACT []
synonym: "Joint Dislocation" EXACT []
synonym: "Joint Subluxation" EXACT []
synonym: "Joint Subluxations" EXACT []
synonym: "Luxatio Erecta" EXACT []
xref: EFO:0009521
xref: MESH:D004204
xref: RDO:0001090
is_a: DOID:0080001 ! bone disease
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9003280
name: bradypnea
def: "This disorder involves an abnormal decrease in the rate of breathing." [EFO:0009839]
synonym: "Decreased Respiratory Rate" EXACT []
synonym: "Rate Of Respiration, Decreased" EXACT []
xref: EFO:0009839
is_a: DOID:9004659 ! Respiration Disorders
created_by: slaulede
creation_date: 2022-12-29T14:41:35Z

[Term]
id: DOID:9003281
name: Spontaneous Abortions
def: "Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference." [MESH:D000022]
synonym: "miscarriage" EXACT []
synonym: "miscarriages" EXACT []
synonym: "spontaneous abortion" EXACT []
synonym: "tubal abortion" EXACT []
synonym: "tubal abortions" EXACT []
xref: EFO:1001255
xref: EFO:1001491
xref: MESH:D000022
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9003282
name: Hyperproinsulinemia
alt_id: MIM:616214
synonym: "hyperproinsulinemia, familial" NARROW []
synonym: "insulin chicago" RELATED []
synonym: "insulin los angeles" RELATED []
synonym: "insulin wakayama" RELATED []
synonym: "proinsulin kyoto" RELATED []
synonym: "proinsulin providence" RELATED []
xref: EFO:0009650
xref: MESH:C562776
xref: RDO:0012350
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9003283
name: Transcobalamin I Deficiency
alt_id: MIM:193090
synonym: "Cobalamin Pseudodeficiency due to Transcobalamin Deficiency" EXACT []
synonym: "Cobalamin R Binder Protein Deficiency" EXACT []
synonym: "R Binder Deficiency with Lactoferrin Deficiency" NARROW []
synonym: "TCN1 deficiency" EXACT []
synonym: "Transcobalamin I Deficiency with Lactoferrin Deficiency" NARROW []
xref: MESH:C562798
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9003284
name: HIV Seropositivity
def: "Development of neutralizing antibodies in individuals who have been exposed to the human immunodeficiency virus (HIV/HTLV-III/LAV)." [MESH:D006679]
synonym: "AIDS Seroconversion" EXACT []
synonym: "AIDS Seroconversions" EXACT []
synonym: "AIDS Seropositivities" EXACT []
synonym: "AIDS Seropositivity" EXACT []
synonym: "Anti-HIV Positivities" EXACT []
synonym: "Anti HIV Positivity" EXACT []
synonym: "HIV Antibody Positivities" EXACT []
synonym: "HIV Antibody Positivity" EXACT []
synonym: "HIV Seroconversion" EXACT []
synonym: "HIV Seroconversions" EXACT []
synonym: "HIV Seropositivities" EXACT []
synonym: "HTLV III Seroconversion" EXACT []
synonym: "HTLV-III Seroconversions" EXACT []
synonym: "HTLV-III Seropositivities" EXACT []
synonym: "HTLV III Seropositivity" EXACT []
xref: EFO:0004510
xref: MESH:D006679
is_a: DOID:526 ! human immunodeficiency virus infectious disease

[Term]
id: DOID:9003285
name: Odontotrichoungual-Digital-Palmar Syndrome
alt_id: MIM:601957
synonym: "OTUDP Syndrome" EXACT []
xref: MESH:C566598
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9003286
name: Diplopia
def: "A visual symptom in which a single object is perceived by the visual cortex as two objects rather than one. Disorders associated with this condition include REFRACTIVE ERRORS; STRABISMUS; OCULOMOTOR NERVE DISEASES; TROCHLEAR NERVE DISEASES; ABDUCENS NERVE DISEASES; and diseases of the BRAIN STEM and OCCIPITAL LOBE." [MESH:D004172]
synonym: "Cortical Diplopia" EXACT []
synonym: "cortical diplopias" EXACT []
synonym: "Diplopias" EXACT []
synonym: "Double Vision" EXACT []
synonym: "Horizontal Diplopia" EXACT []
synonym: "Horizontal Diplopias" EXACT []
synonym: "Intermittent Diplopia" EXACT []
synonym: "Intermittent Diplopias" EXACT []
synonym: "Monocular Diplopia" EXACT []
synonym: "Monocular Diplopias" EXACT []
synonym: "Polyopsia" EXACT []
synonym: "Polyopsias" EXACT []
synonym: "Refractive Diplopia" EXACT []
synonym: "Refractive Diplopias" EXACT []
synonym: "Unilateral Diplopia" EXACT []
synonym: "Unilateral Diplopias" EXACT []
synonym: "Vertical Diplopia" EXACT []
synonym: "vertical diplopias" EXACT []
xref: MESH:D004172
is_a: DOID:9000343 ! Vision Disorders

[Term]
id: DOID:9003287
name: Body Weight Changes
def: "A clinical manifestation consisting of alterations in an individual's weight from his or her norm." [MESH:D001836]
synonym: "Body Weight Change" EXACT []
xref: MESH:D001836
is_a: DOID:9007633 ! Body Weight

[Term]
id: DOID:9003288
name: Lethal Congenital Contracture Syndrome 10
alt_id: RDO:9001624
synonym: "LCCS10" EXACT []
xref: MIM:617022
is_a: DOID:0060558 ! lethal congenital contracture syndrome

[Term]
id: DOID:9003289
name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM
def: "This disease is an autosomal recessive disorder characterized by axial hypotonia and global developmental delay apparent from the first days or months of life. Affected individuals develop early-onset seizures that tend to be well-controlled. Other features include peripheral spasticity with hyperreflexia, variable dysmorphic features, impaired intellectual development, behavioral abnormalities, and hypoplasia or absence of the corpus callosum on brain imaging." [MIM:620250]
synonym: "NEDSSCC" EXACT []
xref: MIM:620250
is_a: DOID:1826 ! epilepsy
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2023-05-04T10:32:22Z

[Term]
id: DOID:9003290
name: Otofacioosseous-Gonadal Syndrome
alt_id: MIM:601976
xref: MESH:C566597
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003291
name: Aggressive Fibromatosis
def: "A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed)" [MESH:D018222]
synonym: "Aggressive Fibromatoses" EXACT []
synonym: "Desmoid" EXACT []
synonym: "Desmoids" EXACT []
xref: MESH:D018222
is_a: DOID:0050871 ! fibroma

[Term]
id: DOID:9003292
name: Intracranial Subdural Hematoma
def: "Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE." [MESH:D046648]
synonym: "cranial subdural hematoma" EXACT []
synonym: "intracranial subdural hematomas" EXACT []
synonym: "traumatic intracranial subdural hematoma" EXACT []
xref: EFO:1001801
xref: MESH:D046648
is_a: DOID:9001521 ! Subdural Hematoma

[Term]
id: DOID:9003293
name: Li-Campeau Syndrome
def: "An autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, hypothyroidism, and variable abnormalities of the cardiac and genital systems. Caused by homozygous or compound heterozygous mutation in the UBR7 gene on chromosome 19q32. (OMIM)" []
synonym: "LICAS" EXACT []
xref: MIM:619189
xref: NCI:C201589
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1459 ! hypothyroidism
is_a: DOID:9001487 ! Facies
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2021-02-19T10:22:11Z

[Term]
id: DOID:9003295
name: Heterotopic Ossification
alt_id: RDO:0001319
def: "The development of bony substance in normally soft structures." [MESH:D009999]
synonym: "Ectopic Ossification" EXACT []
synonym: "Pathological Ossification" EXACT []
synonym: "Pathologic Ossification" EXACT []
xref: MESH:D009999
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9003296
name: Chromosome 8, Trisomy 8p
synonym: "Duplication 8p" EXACT []
synonym: "Trisomy 8p" EXACT []
xref: MESH:C538019
xref: RDO:0003953
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9003297
name: HLA Class 1 Deficiency
xref: MESH:C538465
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:9003298
name: Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to
alt_id: MIM:614164
synonym: "GLUTATHIONE PEROXIDASE DEFICIENCY" EXACT []
synonym: "GPXD" EXACT []
xref: MESH:C564217
xref: RDO:0013254
is_a: DOID:583 ! hemolytic anemia

[Term]
id: DOID:9003299
name: Short Limb Dwarfism Al Gazali Type
alt_id: MIM:601356
synonym: "Lethal neonatal short limb dwarfism" EXACT []
synonym: "Lethal short-limb skeletal dysplasia, Al Gazali type" EXACT []
xref: MESH:C537598
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9003300
name: Remitting Chorea with Nystagmus and Cataracts
alt_id: MIM:601372
synonym: "Familial remitting chorea, nystagmus and cataracts" EXACT []
synonym: "remitting chorea with nystagmus and cataract" EXACT []
xref: MESH:C535355
is_a: DOID:12859 ! choreatic disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:9003301
name: Micromelic Dwarfism Fryns Type
alt_id: MIM:601096
synonym: "micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects" EXACT []
synonym: "micromelic spondyloepimetaphyseal dysplasia" EXACT []
xref: MESH:C537556
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9003302
name: Monosomy 7 Myelodysplasia and Leukemia Syndrome 2
synonym: "M7MLS2" EXACT []
xref: MIM:619041
is_a: DOID:9009254 ! Monosomy 7 Myelodysplasia and Leukemia Syndrome
created_by: mtutaj
creation_date: 2020-12-11T14:58:24Z

[Term]
id: DOID:9003303
name: Meningism
def: "A condition characterized by neck stiffness, headache, and other symptoms suggestive of meningeal irritation, but without actual inflammation of the meninges (MENINGITIS). Spinal fluid pressure may be elevated but spinal fluid is normal. (DeJong, The Neurologic Examination, 4th ed, p673)" [MESH:D008580]
synonym: "Dupre's syndrome" EXACT []
synonym: "Dupres Syndrome" EXACT []
synonym: "Dupre Syndrome" EXACT []
synonym: "Meningisms" EXACT []
synonym: "Meningismus" EXACT []
synonym: "Meningitis Like Reaction" EXACT []
synonym: "Meningitis-Like Reactions" EXACT []
synonym: "Pseudomeningitides" EXACT []
synonym: "pseudomeningitis" EXACT []
xref: MESH:D008580
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9003304
name: Kozlowski Rafinski Klicharska Syndrome
synonym: "Metaphyseal and epiphyseal dysplasia with unusual facies and cataract" EXACT []
xref: MESH:C537509
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9003305
name: X-Linked Thrombophilia due to Factor VIII Defect
def: "A disease associated with markedly elevated F8 levels and severe thrombophilia. Caused by mutation in the F8 gene on chromosome Xq28." [MIM:301071]
synonym: "F8-RELATED CONDITION" BROAD []
synonym: "THPH13" EXACT []
xref: MIM:301071
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:2452 ! thrombophilia
created_by: mtutaj
creation_date: 2022-02-28T19:29:59Z

[Term]
id: DOID:9003306
name: Hair Defect with Photosensitivity and Mental Retardation
alt_id: MIM:234030
synonym: "Calderon Gonzalez-Cantu syndrome" EXACT []
synonym: "Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation" EXACT []
xref: MESH:C537628
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1838 ! Menkes disease
is_a: DOID:3159 ! photosensitivity disease

[Term]
id: DOID:9003307
name: Sex Chromosome Aberrations
def: "Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT." [MESH:D012729]
synonym: "Sex Chromosome Aberration" EXACT []
synonym: "Sex Chromosome Abnormalities" EXACT []
synonym: "Sex Chromosome Abnormality" EXACT []
xref: MESH:D012729
xref: RDO:0000144
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9003308
name: Congenital Hypomyelinating Neuropathy 3
def: "An autosomal recessive neurologic disorder characterized by onset of neurogenic muscle impairment in utero. Affected individuals present at birth with severe hypotonia, often causing respiratory insufficiency or failure and inability to swallow or feed properly. They have profoundly impaired psychomotor development. Sural nerve biopsy shows hypomyelination of the nerve fibers. Nerve conduction velocities are severely decreased (about 10 m/s) or absent due to improper myelination." [MIM:618186]
synonym: "CHN3" EXACT []
xref: MIM:618186
is_a: DOID:9001527 ! Congenital Hypomyelinating Neuropathy
created_by: slaulede
creation_date: 2019-01-11T14:07:37Z

[Term]
id: DOID:9003309
name: Arm Injuries
def: "General or unspecified injuries involving the UPPER ARM and the FOREARM." [MESH:D001134]
synonym: "Arm Injury" EXACT []
xref: MESH:D001134
xref: RDO:0004905
is_a: DOID:9004073 ! limb injury

[Term]
id: DOID:9003310
name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
def: "This disease is an autosomal recessive complex immunologic disorder characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. Affected individuals present in infancy with variable features, including fever, infection, thrombocytopenia, renal or hepatic dysfunction, recurrent infections, or seizures. The disorder is thought to result from dysregulation of the interferon response to viral stimulation in the innate immune system." [MIM:619644]
synonym: "IMD91" EXACT []
xref: MIM:619644
is_a: DOID:612 ! primary immunodeficiency disease
created_by: slaulede
creation_date: 2022-02-08T13:54:17Z

[Term]
id: DOID:9003311
name: Urinary Calculi
def: "Low-density crystals or stones in any part of the URINARY TRACT. Their chemical compositions often include CALCIUM OXALATE, magnesium ammonium phosphate (struvite), CYSTINE, or URIC ACID." [MESH:D014545]
synonym: "Urinary Calculus" EXACT []
synonym: "Urinary Stone" EXACT []
synonym: "Urinary Stones" EXACT []
synonym: "Urinary Tract Stone" EXACT []
synonym: "Urinary Tract Stones" EXACT []
xref: MESH:D014545
is_a: DOID:0080653 ! urolithiasis
is_a: DOID:9005602 ! Calculi

[Term]
id: DOID:9003312
name: Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency
alt_id: MIM:613839
synonym: "DHFR Deficiency" EXACT []
xref: MESH:C565095
is_a: DOID:13382 ! megaloblastic anemia

[Term]
id: DOID:9003313
name: Occipital Cortical Malformations
alt_id: RDO:9000254
def: "A syndrome characterized  by seizures, sometimes associated with transient visual changes." []
synonym: "OCCM" EXACT []
xref: MIM:614115
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9003314
name: Pancreatic Agenesis 1
synonym: "PAGEN1" EXACT []
synonym: "PDX1-RELATED DISORDER" BROAD []
xref: MIM:260370
is_a: DOID:0050877 ! pancreatic agenesis
created_by: slaulede
creation_date: 2020-02-14T15:04:45Z

[Term]
id: DOID:9003315
name: Lubs Syndrome
synonym: "Pseudohermaphroditism, Incomplete Male, Type I" EXACT []
synonym: "Rosewater syndrome" EXACT []
synonym: "Type I familial incomplete male pseudohermaphroditism" EXACT []
xref: MESH:C538435
is_a: DOID:225 ! syndrome
is_a: DOID:4674 ! androgen insensitivity syndrome

[Term]
id: DOID:9003316
name: Colloid Cysts
def: "Benign, congenital, neuroepithelial cysts that are typically filled with a viscous mucus. They usually arise in the anterior portion of the THIRD VENTRICLE between the fornices." [MESH:D056364]
synonym: "Colloid Cyst" EXACT []
xref: MESH:D056364
is_a: DOID:9003857 ! Central Nervous System Cysts

[Term]
id: DOID:9003317
name: Mitochondrial Form of Axonal Charcot-Marie-Tooth Disease 1
synonym: "CMTMA1" EXACT []
xref: MIM:500013
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
created_by: mtutaj
creation_date: 2021-01-14T15:15:49Z

[Term]
id: DOID:9003318
name: Keratoconus 1
alt_id: MIM:148300
synonym: "KTCN1" EXACT []
synonym: "VSX1-RELATED CONDITION" BROAD []
xref: MESH:C563649
is_a: DOID:10126 ! keratoconus

[Term]
id: DOID:9003319
name: Pronation-Supination Of The Forearm, Impairment Of
alt_id: MIM:176800
xref: MESH:C566757
is_a: DOID:480 ! movement disease

[Term]
id: DOID:9003320
name: Myofibrillar Myopathy 12
def: "A severe autosomal recessive disorder affecting both skeletal and cardiac muscle tissue that is apparent in the first weeks of life. Caused by homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. (OMIM)" []
synonym: "MFM12" EXACT []
synonym: "myofibrillar myopathy 12, infantile-onset, with cardiomyopathy" EXACT []
xref: MIM:619424
is_a: DOID:0080307 ! myofibrillar myopathy
created_by: mtutaj
creation_date: 2021-08-06T17:08:44Z

[Term]
id: DOID:9003321
name: Bacterial Keratitis
def: "Bacterial infection of the cornea which can follow from an injury or from wearing contact lenses." []
xref: RDO:9000039
is_a: DOID:4677 ! keratitis
is_a: DOID:9005473 ! Bacterial Eye Infections

[Term]
id: DOID:9003322
name: Familial Atrial Fibrillation 5
alt_id: MIM:611494
alt_id: RDO:0015140
synonym: "ATFB5" EXACT []
xref: MESH:C566932
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9003323
name: Multifocal Fibromuscular Dysplasia
def: "Characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Caused by heterozygous mutation in the COL5A1 gene on chromosome 9q34. (OMIM)" []
synonym: "COL5A1-RELATED CONDITION" BROAD []
synonym: "FMDMF" EXACT []
xref: MIM:619329
is_a: DOID:9003785 ! Fibromuscular Dysplasia
created_by: mtutaj
creation_date: 2021-05-19T11:56:39Z

[Term]
id: DOID:9003324
name: Dysfibrinogenemia Causing Recurrent Thrombosis
xref: MESH:C565018
xref: RDO:0013776
is_a: DOID:0060903 ! thrombosis
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:9003325
name: Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency
alt_id: MIM:600351
xref: MESH:C563949
is_a: DOID:10611 ! protein-losing enteropathy
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9000197 ! Edema

[Term]
id: DOID:9003326
name: Perrault Syndrome 1
alt_id: MIM:233400
synonym: "deficiency of 17-beta-hydroxysteroid dehydrogenase 4" EXACT []
synonym: "gonadal dysgenesis XX type deafness" EXACT []
synonym: "Gonadal dysgenesis, XX type, with deafness" EXACT []
synonym: "HSD17B4-RELATED CONDITION" BROAD []
synonym: "Ovarian dysgenesis with sensorineural deafness" EXACT []
synonym: "PRLTS1" EXACT []
xref: MESH:C537286
is_a: DOID:0050857 ! Perrault syndrome
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:14450 ! 46 XX gonadal dysgenesis

[Term]
id: DOID:9003328
name: Cobblestone Lissencephaly
def: "The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease." [MESH:D054222]
synonym: "Cobblestone Complex" EXACT []
synonym: "Cobblestone Dysplasia" EXACT []
synonym: "Cobblestone Dysplasias" EXACT []
synonym: "Cobblestone Lissencephalies" EXACT []
synonym: "Lissencephaly Type 2" EXACT []
xref: MESH:D054222
is_a: DOID:0050453 ! lissencephaly

[Term]
id: DOID:9003329
name: Tooth Attrition
def: "The wearing away of a tooth as a result of tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces. It is chiefly associated with aging. It is differentiated from TOOTH ABRASION (the pathologic wearing away of the tooth substance by friction, as brushing, bruxism, clenching, and other mechanical causes) and from TOOTH EROSION (the loss of substance caused by chemical action without bacterial action). (Jablonski, Dictionary of Dentistry, 1992, p86)" [MESH:D019217]
synonym: "Dental Attrition" EXACT []
synonym: "Dental Attritions" EXACT []
synonym: "Occlusal Wear" EXACT []
synonym: "Occlusal Wears" EXACT []
xref: MESH:D019217
is_a: DOID:9004104 ! Tooth Wear

[Term]
id: DOID:9003330
name: Papillary Thyroid Carcinoma, with Papillary Renal Neoplasia
alt_id: MIM:605642
synonym: "PRN1" EXACT []
synonym: "PTCPRN" EXACT []
xref: MESH:C565310
is_a: DOID:3969 ! papillary thyroid carcinoma
is_a: DOID:4450 ! renal cell carcinoma

[Term]
id: DOID:9003331
name: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
def: "A rare congenital defect of visceral smooth muscle, primarily affecting females who present at birth with functional obstruction of the intestine, microcolon, dilation of the bladder, and secondary hydronephrosis. Caused by mutation in the LMOD1 gene on chromosome 1q32. (OMIM)" []
synonym: "MMIHS3" EXACT []
xref: MIM:619362
is_a: DOID:0060610 ! megacystis-microcolon-intestinal hypoperistalsis syndrome
created_by: mtutaj
creation_date: 2021-06-03T09:53:50Z

[Term]
id: DOID:9003332
name: Charcot-Marie-Tooth Disease Type 4A, Axonal Form
alt_id: RDO:0004605
alt_id: RDO:0009131
synonym: "Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE" EXACT []
synonym: "CHARCOT-MARIE-TOOTH WITH VOCAL CORD PARESIS" EXACT []
synonym: "CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE" EXACT []
synonym: "NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE" EXACT []
xref: MESH:C539595
xref: MIM:607706
is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4
is_a: DOID:9000586 ! Vocal Cord Paralysis

[Term]
id: DOID:9003334
name: Syndactyly Type 6
def: "A rare, genetic, non-syndromic, congenital limb malformation disorder characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers. (ORPHA)" []
synonym: "Mitten hand" EXACT []
synonym: "Syndactyly, mitten type" EXACT []
synonym: "Unilateral syndactyly of digits 2-5" EXACT []
xref: ORDO:295012
is_a: DOID:11193 ! syndactyly
created_by: mtutaj
creation_date: 2020-05-21T09:02:25Z

[Term]
id: DOID:9003335
name: HTLV-II Infections
def: "Diseases caused by HUMAN T-LYMPHOTROPIC VIRUS 2." [MESH:D015491]
synonym: "HTLV-II Infection" EXACT []
xref: EFO:1001349
xref: MESH:D015491
xref: RDO:0006892
is_a: DOID:9001509 ! Deltaretrovirus Infections

[Term]
id: DOID:9003336
name: Neonatal Zinc Deficiency due to Low Breast Milk Zinc
alt_id: MIM:608118
synonym: "reduced zinc in breast milk" RELATED []
synonym: "TNZD" EXACT []
synonym: "transient neonatal zinc deficiency" EXACT []
xref: MESH:C564286
is_a: DOID:9003921 ! Zinc Deficiency
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9003337
name: Multilocular Encephalomalacia
alt_id: MIM:225700
xref: MESH:C565597
is_a: DOID:2034 ! encephalomalacia

[Term]
id: DOID:9003338
name: Focal Infection
def: "An infection at a specific location that may spread to another region of the body." [MESH:D005490]
synonym: "Focal Infections" EXACT []
xref: MESH:D005490
xref: RDO:0005617
is_a: DOID:9004384 ! Bacterial Infections and Mycoses

[Term]
id: DOID:9003339
name: Radiculoneuropathy, Fatal Neonatal
alt_id: MIM:266250
xref: MESH:C564857
is_a: DOID:4308 ! polyradiculoneuropathy

[Term]
id: DOID:9003340
name: Neonatal Alloimmune Thrombocytopenia
def: "A condition in newborns caused by immunity of the mother to PLATELET ALLOANTIGENS on the fetal platelets. The PLATELETS, coated with maternal ANTIBODIES, are destroyed and removed by the fetal MONONUCLEAR PHAGOCYTE SYSTEM. Affected infants may have INTRACRANIAL HEMORRHAGES." [MESH:D054098]
synonym: "BAK PLATELET-SPECIFIC ANTIGEN" RELATED []
synonym: "Ca/Tu Alloantigen Polymorphism" RELATED []
synonym: "FETAL AND NEONATAL ALLOIMMUNE THROMBOCYTOPENIA" EXACT []
synonym: "Mo Alloantigen Polymorphism" RELATED []
synonym: "NAIT" EXACT []
synonym: "Neonatal Alloimmune Thrombocytopenias" EXACT []
synonym: "Neonatal Thrombocytopenia" EXACT []
synonym: "Neonatal Thrombocytopenias" EXACT []
synonym: "PEN(a)/PEN(b) Alloantigen Polymorphism" RELATED []
xref: MESH:D054098
xref: NCI:C101200
is_a: DOID:1587 ! thrombocytopenia due to platelet alloimmunization
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9003341
name: Vesicoureteral Reflux 7
alt_id: MIM:615390
synonym: "VUR7" EXACT []
is_a: DOID:9620 ! vesicoureteral reflux

[Term]
id: DOID:9003342
name: Microphthalmia, Cataracts, and Iris Abnormalities
xref: MESH:C566448
xref: RDO:0014799
is_a: DOID:10629 ! microphthalmia
is_a: DOID:12270 ! coloboma
is_a: DOID:83 ! cataract

[Term]
id: DOID:9003343
name: Alpha-Thalassemia-2, Nondeletional
def: "A disorder characterized by reduced synthesis of the alpha chains of hemoglobin, caused not by genetic deletions, but other types of alpha hemoglobin mutations." []
synonym: "Hemoglobin H Disease, Nondeletional" EXACT []
synonym: "HEMOGLOBIN PLASENCIA" RELATED []
is_a: DOID:9002652 ! Alpha-Thalassemia 2

[Term]
id: DOID:9003344
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES
def: "An autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. (OMIM)" []
synonym: "IDDNPF" EXACT []
xref: MIM:617532
xref: RDO:9001746
is_a: DOID:1059 ! intellectual disability
is_a: DOID:150 ! disease of mental health
created_by: rgd
creation_date: 2017-07-11T00:00:00Z

[Term]
id: DOID:9003345
name: Chromosome 12, Trisomy 12q
synonym: "Duplication 12q" EXACT []
synonym: "Trisomy 12q" EXACT []
xref: MESH:C538300
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9003346
name: Distal Myopathy 7
def: "An X-linked recessive disorder affecting only males characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. Caused by hemizygous mutation in the SMPX gene on chromosome Xp22." [MIM:301075]
synonym: "MPD7" EXACT []
synonym: "X-linked adult-onset distal myopathy 7" EXACT []
xref: MIM:301075
is_a: DOID:11720 ! distal myopathy
created_by: mtutaj
creation_date: 2022-04-18T09:35:12Z

[Term]
id: DOID:9003347
name: Pediatric Ulcerative Colitis
xref: MESH:C536315
is_a: DOID:8577 ! ulcerative colitis

[Term]
id: DOID:9003348
name: Congenital Generalized Lipodystrophy Type 5
def: "An autosomal recessive metabolic disorder characterized by childhood onset of lipodystrophy, severe nonalcoholic fatty liver disease, dyslipidemia, hypertriglyceridemia, low HDL, and insulin-resistant diabetes mellitus. Caused by compound heterozygous mutation in the PCYT1A gene on chromosome 3q29." [MIM:620680]
synonym: "CGL5" EXACT []
xref: MIM:620680
is_a: DOID:0050585 ! congenital generalized lipodystrophy
created_by: tutajm
creation_date: 2024-01-19T10:49:33Z

[Term]
id: DOID:9003349
name: Rothmund-Thomson Syndrome Type 1
synonym: "poikiloderma atrophicans and cataract" EXACT []
synonym: "Rothmund-Thomson syndrome 1" EXACT []
synonym: "RTS1" EXACT []
xref: MIM:618625
is_a: DOID:2732 ! Rothmund-Thomson syndrome
created_by: mtutaj
creation_date: 2019-10-18T10:42:17Z

[Term]
id: DOID:9003350
name: Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly
alt_id: MIM:604211
xref: MESH:C565817
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9005329 ! Preaxial Polydactyly
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9003351
name: VDAC Deficiency
xref: MESH:C565767
xref: RDO:0014317
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9003352
name: Yang Deficiency
def: "In the YIN-YANG system of philosophy and medicine, a lack of vital energy (called yangxu in Chinese). It manifests itself in various systemic and organic diseases. (The Pinyin Chinese-English Dictionary, 1979)" [MESH:D016711]
synonym: "Yang Hsu" EXACT []
synonym: "Yang Xu" EXACT []
synonym: "Yangxu" EXACT []
xref: EFO:0006817
xref: MESH:D016711
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9003353
name: Systemic Lupus Erythematosus 16
synonym: "SLEB16" EXACT []
xref: MIM:614420
is_a: DOID:9074 ! systemic lupus erythematosus

[Term]
id: DOID:9003354
name: Acropectorovertebral Dysplasia
alt_id: MIM:102510
synonym: "Acropectorovertebral Dysplasia, F-Form" EXACT []
synonym: "ACRPV" EXACT []
synonym: "F syndrome" EXACT []
xref: GARD:512
xref: MESH:C566319
xref: MONDO:0007058
xref: ORDO:957
is_a: DOID:0060242 ! synpolydactyly

[Term]
id: DOID:9003355
name: Trochlear Nerve Injuries
def: "Traumatic injuries to the TROCHLEAR NERVE." [MESH:D061247]
synonym: "Cranial Nerve IV Injury" EXACT []
synonym: "Fourth Cranial Nerve Injuries" EXACT []
synonym: "Fourth Cranial Nerve Injury" EXACT []
synonym: "Fourth Nerve Trauma" EXACT []
synonym: "Fourth-Nerve Traumas" EXACT []
synonym: "Traumatic Fourth-Nerve Palsies" EXACT []
synonym: "Traumatic Fourth Nerve Palsy" EXACT []
synonym: "Traumatic Trochlear Neuropathies" EXACT []
synonym: "Traumatic Trochlear Neuropathy" EXACT []
synonym: "Trochlear Nerve Avulsion" EXACT []
synonym: "Trochlear Nerve Avulsions" EXACT []
synonym: "Trochlear Nerve Contusion" EXACT []
synonym: "Trochlear Nerve Contusions" EXACT []
synonym: "Trochlear Nerve Injury" EXACT []
synonym: "Trochlear Nerve Transection" EXACT []
synonym: "Trochlear Nerve Transections" EXACT []
synonym: "Trochlear Nerve Trauma" EXACT []
synonym: "Trochlear Nerve Traumas" EXACT []
xref: MESH:D061247
xref: RDO:0010065
is_a: DOID:9000598 ! Cranial Nerve Injuries

[Term]
id: DOID:9003356
name: Extrahepatic Portal Vein Obstruction
def: "Obstruction by a blood clot (THROMBUS) or malignant obstruction of that part of the portal vein not surrounded by liver tissue." []
is_a: DOID:9007037 ! Portal Vein Obstruction
created_by: rgd
creation_date: 2016-06-03T00:00:00Z

[Term]
id: DOID:9003357
name: Heat Exhaustion
def: "A clinical syndrome caused by heat stress, such as over-exertion in a hot environment or excessive exposure to sun. It is characterized by SWEATING, water (volume) depletion, salt depletion, cool clammy skin, NAUSEA, and HEADACHE." [MESH:D006359]
synonym: "Heat Collapse" EXACT []
synonym: "Heat Prostration" EXACT []
xref: MESH:D006359
is_a: DOID:9001103 ! Heat Stress Disorders

[Term]
id: DOID:9003359
name: Chiari Malformation Type I with Syringomyelia
synonym: "CM1 with Syringomyelia" EXACT []
xref: MESH:C566133
is_a: DOID:327 ! syringomyelia
is_a: DOID:9001900 ! Arnold-Chiari Malformation

[Term]
id: DOID:9003360
name: Infectious Keratoconjunctivitis
def: "Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is MORAXELLA (MORAXELLA) BOVIS; in sheep, MYCOPLASMA; RICKETTSIA; CHLAMYDIA; or ACHOLEPLASMA; in goats, RICKETTSIA." [MESH:D007639]
synonym: "Infectious Keratoconjunctivitides" EXACT []
xref: MESH:D007639
is_a: DOID:9004985 ! Animal Diseases
is_a: DOID:9005473 ! Bacterial Eye Infections
is_a: DOID:9368 ! keratoconjunctivitis

[Term]
id: DOID:9003361
name: CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET
def: "This disease is characterized by the presence of tiny round multicolored opacities in the posterior stroma of the cornea, immediately anterior to the Descemet membrane." [MIM:619871]
synonym: "PPPCD" EXACT []
synonym: "punctiform and polychromatic pre-Descemet corneal dystrophy" EXACT []
xref: MIM:619871
is_a: DOID:0060443 ! corneal endothelial dystrophy
created_by: slaulede
creation_date: 2022-06-13T14:38:08Z

[Term]
id: DOID:9003362
name: Aortopulmonary Septal Defect
def: "A developmental abnormality in which the spiral (aortopulmonary) septum failed to completely divide the TRUNCUS ARTERIOSUS into ASCENDING AORTA and PULMONARY ARTERY. This abnormal communication between the two major vessels usually lies above their respective valves (AORTIC VALVE; PULMONARY VALVE)." [MESH:D001028]
synonym: "Aorticopulmonary Septal Defect" EXACT []
synonym: "Aorticopulmonary Septal Defects" EXACT []
synonym: "Aortopulmonary Septal Defects" EXACT []
xref: MESH:D001028
xref: RDO:0004884
is_a: DOID:1681 ! heart septal defect

[Term]
id: DOID:9003363
name: Basilar Skull Fracture
def: "Fractures which extend through the base of the SKULL, usually involving the PETROUS BONE. Battle's sign (characterized by skin discoloration due to extravasation of blood into the subcutaneous tissue behind the ear and over the mastoid process), CRANIAL NEUROPATHIES, TRAUMATIC; CAROTID-CAVERNOUS SINUS FISTULA; and CEREBROSPINAL FLUID OTORRHEA are relatively frequent sequelae of this condition. (Adams et al., Principles of Neurology, 6th ed, p876)" [MESH:D020205]
synonym: "Basilar Skull Fractures" EXACT []
synonym: "Battle's Sign" EXACT []
synonym: "Battle Sign" EXACT []
synonym: "Battles Sign" EXACT []
synonym: "Frontobasilar Skull Fracture" EXACT []
synonym: "Frontobasilar Skull Fractures" EXACT []
synonym: "Skull Fracture, Basilar, Childhood" EXACT []
synonym: "Skull Fracture, Transphenoid Basilar" EXACT []
xref: MESH:D020205
is_a: DOID:9002209 ! Skull Fractures

[Term]
id: DOID:9003364
name: Benign Neonatal Epilepsy, 1, Atypical Severe
alt_id: DOID:9008252
synonym: "Benign Familial Neonatal Convulsions 1, Atypical Severe" EXACT []
xref: MESH:C567745
xref: MESH:C567746
is_a: DOID:14777 ! benign familial neonatal epilepsy
is_a: DOID:9006888 ! Benign Neonatal Epilepsy, 1

[Term]
id: DOID:9003365
name: Usher Syndrome Type 1B
alt_id: MIM:276900
synonym: "RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS" EXACT []
synonym: "USH1A" EXACT []
synonym: "USH1B" EXACT []
synonym: "Usher Syndrome Type IA" EXACT []
synonym: "Usher Syndrome Type IB" EXACT []
synonym: "USHER SYNDROME, TYPE I, FRENCH VARIETY" EXACT []
xref: MESH:C536485
xref: MESH:C564755
is_a: DOID:0110826 ! Usher syndrome type 1

[Term]
id: DOID:9003366
name: Laryngopharyngeal Reflux
def: "Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX." [MESH:D057045]
synonym: "Gastric Regurgitation" EXACT []
synonym: "Supraesophageal Gastric Reflux" EXACT []
synonym: "Supraesophageal Gastric Reflux (SEGR)" EXACT []
xref: EFO:1001355
xref: MESH:D057045
is_a: DOID:786 ! laryngeal disease
is_a: DOID:8534 ! gastroesophageal reflux disease

[Term]
id: DOID:9003367
name: Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy
alt_id: MIM:608278
xref: MESH:C564264
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11476 ! osteoporosis
is_a: DOID:83 ! cataract
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9006836 ! Contracture
is_a: DOID:9277 ! primary cerebellar degeneration

[Term]
id: DOID:9003369
name: Strongylida Infections
def: "Infections with nematodes of the order STRONGYLIDA." [MESH:D017206]
synonym: "Stephanurus dentatus Infection" EXACT []
synonym: "Stephanurus dentatus Infections" EXACT []
synonym: "Strongylida Infection" EXACT []
synonym: "Syngamiases" EXACT []
synonym: "Syngamiasis" EXACT []
xref: EFO:0007500
xref: MESH:D017206
is_a: DOID:9004401 ! Secernentea Infections

[Term]
id: DOID:9003370
name: Dyslipidemias
def: "Abnormalities in the serum levels of LIPIDS, including overproduction or deficiency. Abnormal serum lipid profiles may include high total CHOLESTEROL, high TRIGLYCERIDES, low HIGH DENSITY LIPOPROTEIN CHOLESTEROL, and elevated LOW DENSITY LIPOPROTEIN CHOLESTEROL." [MESH:D050171]
synonym: "Dyslipidemia" EXACT []
synonym: "Dyslipoproteinemia" EXACT []
synonym: "Dyslipoproteinemias" EXACT []
xref: MESH:D050171
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:9003371
name: Cerebroretinal Microangiopathy with Calcifications and Cysts 1
synonym: "Cerebroretinal microangiopathy with calcifications and cysts 1" EXACT []
synonym: "CRMCC1" EXACT []
synonym: "CTC1-RELATED CONDITION" EXACT []
xref: MIM:612199
is_a: DOID:9003025 ! Cerebroretinal Microangiopathy with Calcifications and Cysts
created_by: mtutaj
creation_date: 2019-05-01T12:48:04Z

[Term]
id: DOID:9003372
name: LESSEL-KREIENKAMP SYNDROME
def: "A neurodevelopmental disorder characterized by global developmental delay with intellectual disability and speech and language delay apparent from infancy or early childhood." [MIM:619149]
synonym: "LESKRES" EXACT []
xref: MIM:619149
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2021-02-15T10:29:08Z

[Term]
id: DOID:9003373
name: Uterine Cervical Neoplasms
alt_id: MIM:603956
def: "Tumors or cancer of the UTERINE CERVIX." [MESH:D002583]
synonym: "cervical neoplasm" EXACT []
synonym: "cervical neoplasms" EXACT []
synonym: "cervix neoplasm" EXACT []
synonym: "cervix neoplasms" EXACT []
synonym: "neoplasm of uterine cervix" EXACT []
synonym: "tumor of the cervix uteri" EXACT []
synonym: "uterine cervical neoplasm" EXACT []
xref: MESH:D002583
is_a: DOID:2253 ! cervix disease
is_a: DOID:9004268 ! Uterine Neoplasms

[Term]
id: DOID:9003374
name: Autosomal Recessive Cutis Laxa Type IIE
def: "Characterized by connective tissue features, including generalized cutis laxa and inguinal hernia, craniofacial dysmorphology, variable mild heart defects, and prominent skeletal features, including craniosynostosis, short stature, brachydactyly, clinodactyly, and syndactyly. Caused by homozygous mutation in the LTBP1 gene on chromosome 2p22. (OMIM)" []
synonym: "ARCL2E" EXACT []
xref: MIM:619451
is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type
created_by: mtutaj
creation_date: 2021-07-27T12:43:07Z

[Term]
id: DOID:9003375
name: Glutamyl Ribose-5-Phosphate Storage Disease
alt_id: MIM:305920
synonym: "ADP-Ribose Protein Hydrolase Deficiency" EXACT []
xref: MESH:C564422
is_a: DOID:3211 ! lysosomal storage disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9003377
name: Asymmetric Polymicrogyria
alt_id: RDO:0015673
xref: MESH:C567658
is_a: DOID:0080918 ! polymicrogyria

[Term]
id: DOID:9003378
name: Congenital Hemolytic Anemia with Emphysema and Cutis Laxa
synonym: "Cutis Laxa, Emphysema, and Hemolytic Anemia" EXACT []
xref: MESH:C562629
is_a: DOID:3144 ! cutis laxa
is_a: DOID:589 ! congenital hemolytic anemia
is_a: DOID:9002884 ! Emphysema

[Term]
id: DOID:9003379
name: Radiation Nephropathy
def: "A kidney disease caused by iatrogenic or experimental insult of ionizing radiation to one or both kidneys." []
is_a: DOID:557 ! kidney disease
is_a: DOID:9000111 ! Radiation Injuries
created_by: rgd
creation_date: 2017-06-28T00:00:00Z

[Term]
id: DOID:9003380
name: Pudendal Neuralgia
def: "Pain associated with a damaged PUDENDAL NERVE. Clinical features may include positional pain with sitting in the perineal and genital areas, sexual dysfunction and FECAL INCONTINENCE and URINARY INCONTINENCE." [MESH:D060545]
synonym: "Pudendal Canal Entrapment Syndrome" EXACT []
synonym: "Pudendal Nerve Entrapment" EXACT []
synonym: "Pudendal Nerve Entrapments" EXACT []
synonym: "Pudendal Nerve Entrapment Syndrome" EXACT []
synonym: "Pudendal Neuralgias" EXACT []
synonym: "Pudendal Neuropathies" EXACT []
synonym: "Pudendal Neuropathy" EXACT []
xref: MESH:D060545
xref: RDO:0010042
is_a: DOID:573 ! nerve compression syndrome
is_a: DOID:9005968 ! Neuralgia

[Term]
id: DOID:9003381
name: Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism
synonym: "Fryns Dereymaeker Haegeman syndrome" EXACT []
xref: MESH:C537453
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9003382
name: Diseases in Twins
def: "Disorders affecting TWINS, one or both, at any age." [MESH:D004200]
synonym: "Diseases in Twin" EXACT []
xref: MESH:D004200
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9003383
name: Bardet-Biedl Syndrome 1/2, Digenic
xref: RDO:9001188
is_a: DOID:0110123 ! Bardet-Biedl syndrome 1
is_a: DOID:0110124 ! Bardet-Biedl syndrome 2
created_by: rgd
creation_date: 2016-06-08T00:00:00Z

[Term]
id: DOID:9003384
name: Spinal Muscular Atrophy with Mental Retardation
alt_id: MIM:271109
xref: MESH:C564807
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:9003385
name: Hairy Ears
alt_id: MIM:139500
synonym: "Hypertrichosis Pinnae Auris" EXACT []
xref: MESH:C562484
is_a: DOID:420 ! hypertrichosis

[Term]
id: DOID:9003386
name: Sunburn
alt_id: DOID:9008294
alt_id: MIM:611742
def: "An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight." [MESH:D013471]
synonym: "Shep9" RELATED []
synonym: "Skin/Hair/Eye Pigmentation, Variation In, 9" RELATED []
synonym: "Skin-Hair-Eye Pigmentation 9, Brown-Nonbrown Eyes" RELATED []
synonym: "Skin-Hair-Eye Pigmentation 9, Dark-Light Hair" RELATED []
synonym: "Skin-Hair-Eye Pigmentation 9, Freckling And Burning" RELATED []
synonym: "Skin-Hair-Eye Pigmentation 9, Red-Nonred Hair" RELATED []
synonym: "Sunburns" EXACT []
xref: EFO:0003958
xref: MESH:C567091
xref: MESH:D013471
is_a: DOID:3159 ! photosensitivity disease
is_a: DOID:9007730 ! Burns

[Term]
id: DOID:9003388
name: ALFADHEL SYNDROME
synonym: "AFDL" EXACT []
xref: MIM:620655
xref: MONDO:0958001
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulederkind
creation_date: 2024-01-16T16:52:01Z

[Term]
id: DOID:9003389
name: Abnormal Karyotype
def: "A variation from the normal set of chromosomes characteristic of a species." [MESH:D059786]
synonym: "Abnormal Karyotypes" EXACT []
xref: MESH:D059786
xref: RDO:0009996
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9003390
name: Thrombocytopenia 2
synonym: "ANKRD26-RELATED CONDITION" EXACT []
synonym: "Helmerhorst Heaton Crossen syndrome" EXACT []
synonym: "THC2" EXACT []
synonym: "thrombocytopenia, autosomal dominant" EXACT []
synonym: "thrombocytopenia, autosomal dominant, 2" EXACT []
synonym: "Thrombocytopenia Chromosome Breakage" EXACT []
xref: MESH:C536519
xref: MIM:188000
xref: NCI:C129035
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:9004203 ! Chromosome Breakage

[Term]
id: DOID:9003391
name: Hamano Tsukamoto Syndrome
xref: MESH:C535625
is_a: DOID:0060160 ! childhood spinal muscular atrophy
is_a: DOID:225 ! syndrome
is_a: DOID:3213 ! demyelinating disease
is_a: DOID:539 ! ophthalmoplegia

[Term]
id: DOID:9003392
name: Neck Pain
def: "Discomfort or more intense forms of pain that are localized to the cervical region. This term generally refers to pain in the posterior or lateral regions of the neck." [MESH:D019547]
synonym: "Anterior Cervical Pain" EXACT []
synonym: "Anterior Cervical Pains" EXACT []
synonym: "Anterior Neck Pain" EXACT []
synonym: "Anterior Neck Pains" EXACT []
synonym: "Cervicalgia" EXACT []
synonym: "Cervicalgias" EXACT []
synonym: "Cervical Pain" EXACT []
synonym: "Cervical Pains" EXACT []
synonym: "Cervicodynia" EXACT []
synonym: "Cervicodynias" EXACT []
synonym: "Neck Ache" EXACT []
synonym: "Neckache" EXACT []
synonym: "Neck Aches" EXACT []
synonym: "Neckaches" EXACT []
synonym: "Neck Pains" EXACT []
synonym: "Posterior Cervical Pain" EXACT []
synonym: "Posterior Cervical Pains" EXACT []
synonym: "Posterior Neck Pain" EXACT []
synonym: "Posterior Neck Pains" EXACT []
xref: MESH:D019547
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9003393
name: AIDS-Related Complex
def: "A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating AIDS-related complex (ARC) from AIDS include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in AIDS; follicular or mixed hyperplasia in ARC lymph nodes, leading to lymphocyte degeneration and depletion more typical of AIDS; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown AIDS." [MESH:D000386]
synonym: "ARC" EXACT []
synonym: "Lymphadenopathy Syndrome" EXACT []
synonym: "Lymphadenopathy Syndromes" EXACT []
xref: EFO:0007137
xref: MESH:D000386
xref: RDO:0004787
is_a: DOID:635 ! acquired immunodeficiency syndrome

[Term]
id: DOID:9003394
name: Unerupted Tooth
def: "A normal developing tooth which has not yet perforated the oral mucosa or one that fails to erupt in the normal sequence or time interval expected for the type of tooth in a given gender, age, or population group." [MESH:D014097]
synonym: "Unerupted Teeth" EXACT []
xref: MESH:D014097
is_a: DOID:1091 ! tooth disease

[Term]
id: DOID:9003395
name: Type 2 Diabetes Mellitus 2
alt_id: MIM:601407
synonym: "NIDDM2" EXACT []
synonym: "noninsulin-dependent diabetes mellitus 2" EXACT []
synonym: "T2D2" EXACT []
xref: MESH:C563323
is_a: DOID:9352 ! type 2 diabetes mellitus

[Term]
id: DOID:9003396
name: Multiple Noduli Cutanei with Urinary Tract Abnormalities
alt_id: MIM:163850
xref: MESH:C563512
is_a: DOID:11111 ! hydronephrosis
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9003397
name: Atrioventricular Septal Defect 5
synonym: "AVSD5" EXACT []
xref: MIM:614474
is_a: DOID:0050651 ! atrioventricular septal defect

[Term]
id: DOID:9003398
name: Focal Facial Dermal Dysplasia 3
synonym: "Bitemporal forceps marks syndrome" EXACT []
synonym: "Facial Ectodermal Dysplasia" EXACT []
synonym: "FFDD3" EXACT []
synonym: "Focal Facial Dermal Dysplasia 3, Setleis Type" EXACT []
synonym: "Focal facial dermal dysplasia type 2" EXACT []
synonym: "Focal Facial Dermal Dysplasia, Type II" EXACT []
synonym: "Setleis syndrome" EXACT []
xref: MIM:227260
is_a: DOID:9000745 ! Focal Facial Dermal Dysplasia

[Term]
id: DOID:9003399
name: Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency
xref: MESH:C536837
xref: RDO:0002536
is_a: DOID:4194 ! glucose metabolism disease

[Term]
id: DOID:9003400
name: Keratoactinomycosis
xref: MESH:C000598941
is_a: DOID:8463 ! corneal ulcer
is_a: DOID:9938 ! dacryocystitis

[Term]
id: DOID:9003401
name: Hardikar Syndrome
synonym: "cholestasis-pigmentary retinopathy-cleft palate syndrome" EXACT []
synonym: "HDKR" EXACT []
xref: MESH:C535632
xref: MIM:301068
xref: MONDO:0012997
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:13580 ! cholestasis
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate

[Term]
id: DOID:9003402
name: Macrosomia Obesity Macrocephaly Ocular Abnormalities
alt_id: MIM:157980
synonym: "Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)" EXACT []
synonym: "Macrosomia, Obesity, Macrocephaly, And Ocular Abnormalities" EXACT []
synonym: "MOMO syndrome" EXACT []
xref: MESH:C535812
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12270 ! coloboma
is_a: DOID:9002427 ! Fetal Macrosomia
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9003403
name: Arterio-Arterial Fistula
def: "Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality." [MESH:D001159]
synonym: "Arterio-Arterial Fistulas" EXACT []
xref: EFO:1001270
xref: MESH:D001159
is_a: DOID:9003191 ! Vascular Malformations
is_a: DOID:9004252 ! Vascular Fistula

[Term]
id: DOID:9003404
name: Bornholm Eye Disease
alt_id: MIM:300843
synonym: "BED" EXACT []
synonym: "MYOPIA, HIGH, WITH NONPROGRESSIVE CONE DYSFUNCTION" EXACT []
xref: MESH:C564092
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9003405
name: Katsantoni Papadakou Lagoyanni Syndrome
alt_id: RDO:0002758
synonym: "Trichodermal syndrome and mental retardation" EXACT []
xref: MESH:C537012
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:421 ! hair disease

[Term]
id: DOID:9003406
name: Isolated Hypoglossia
alt_id: RDO:0015615
xref: MESH:C567568
is_a: DOID:9004659 ! Respiration Disorders
is_a: DOID:9006733 ! Stomatognathic System Abnormalities

[Term]
id: DOID:9003408
name: Prepubertal Familial Idiopathic Edema
alt_id: MIM:129840
xref: MESH:C565063
is_a: DOID:9000197 ! Edema

[Term]
id: DOID:9003409
name: Carotid-Cavernous Sinus Fistula
def: "An acquired or spontaneous abnormality in which there is communication between CAVERNOUS SINUS, a venous structure, and the CAROTID ARTERIES. It is often associated with HEAD TRAUMA, specifically basilar skull fractures (SKULL FRACTURE, BASILAR). Clinical signs often include VISION DISORDERS and INTRACRANIAL HYPERTENSION." [MESH:D020216]
synonym: "Carotid Artery Cavernous Sinus Fistula" EXACT []
synonym: "Carotid-Cavernous Sinus Fistulas" EXACT []
synonym: "C-C Fistula" EXACT []
synonym: "C-C Fistulas" EXACT []
synonym: "Traumatic Carotid Cavernous Sinus Fistula" EXACT []
xref: MESH:D020216
is_a: DOID:3407 ! carotid artery disease
is_a: DOID:9005605 ! Arteriovenous Fistula
is_a: DOID:9006182 ! Carotid Artery Injuries

[Term]
id: DOID:9003410
name: Novelty Seeking Personality Trait
synonym: "RISK-TAKING BEHAVIOR" NARROW []
xref: MIM:601696
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:9003412
name: Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2
def: "An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects.(OMIM)" []
synonym: "congenital NAD deficiency disorder 2" EXACT []
synonym: "KYNURENINASE DEFICIENCY, COMPLETE" EXACT []
synonym: "VCRL2" EXACT []
xref: MIM:617661
is_a: DOID:9008119 ! Vertebral, Cardiac, Renal, and Limb Defects Syndromes
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: rgd
creation_date: 2017-12-11T00:00:00Z

[Term]
id: DOID:9003413
name: Corynebacterium Infections
def: "Infections with bacteria of the genus CORYNEBACTERIUM." [MESH:D003354]
synonym: "Corynebacterium Infection" EXACT []
xref: MESH:D003354
xref: RDO:0005284
is_a: DOID:9000673 ! Actinomycetales Infections

[Term]
id: DOID:9003415
name: Keratoconus 9
def: "A degenerative corneal disease with onset during adolescence, characterized by corneal ectasia, thinning, and cone-shaped protrusion that results in reduced vision (OMIM)." []
synonym: "KTCN9" EXACT []
xref: MIM:617928
is_a: DOID:10126 ! keratoconus

[Term]
id: DOID:9003416
name: Post-Head Injury Coma
def: "Prolonged unconsciousness from which the individual cannot be aroused, associated with traumatic injuries to the BRAIN. This may be defined as unconsciousness persisting for 6 hours or longer. Coma results from injury to both cerebral hemispheres or the RETICULAR FORMATION of the BRAIN STEM. Contributing mechanisms include DIFFUSE AXONAL INJURY and BRAIN EDEMA. (From J Neurotrauma 1997 Oct;14(10):699-713)" [MESH:D020207]
synonym: "Coma, Post-Traumatic, Prolonged" EXACT []
synonym: "Post-Concussive Coma" EXACT []
synonym: "Post-Concussive Comas" EXACT []
synonym: "Post-Head Injury Comas" EXACT []
synonym: "Post-Trauma Coma" EXACT []
synonym: "Post-Trauma Comas" EXACT []
synonym: "Post-Traumatic Coma" EXACT []
synonym: "Traumatic Coma" EXACT []
xref: MESH:D020207
is_a: DOID:9006462 ! Coma
is_a: DOID:9007621 ! Craniocerebral Trauma

[Term]
id: DOID:9003417
name: Menorrhagia
def: "Excessive uterine bleeding during MENSTRUATION." [MESH:D008595]
synonym: "Hypermenorrhea" EXACT []
xref: EFO:0003945
xref: MESH:D008595
is_a: DOID:9004918 ! Menstruation Disturbances
is_a: DOID:9006889 ! Uterine Hemorrhage

[Term]
id: DOID:9003418
name: Lightning Injuries
def: "Accidental injuries caused by brief high-voltage electrical discharges during thunderstorms. Cardiopulmonary arrest, coma and other neurologic symptoms, myocardial necrosis, and dermal burns are common. Prompt treatment of the acute sequelae, including cardiopulmonary resuscitation, is indicated for survival." [MESH:D015168]
synonym: "Lightning Injury" EXACT []
synonym: "Lightning Stroke" EXACT []
synonym: "Lightning Strokes" EXACT []
xref: MESH:D015168
xref: RDO:0006847
is_a: DOID:9001588 ! Electric Injuries

[Term]
id: DOID:9003419
name: Childhood-Onset Fluency Disorder
def: "Disturbances in the normal fluency and time patterning of speech that are inappropriate for the individual's age and language skills. (DSM-V)" [MESH:D000067454]
synonym: "Childhood-Onset Fluency Disorders" EXACT []
xref: MESH:D000067454
xref: RDO:0016028
is_a: DOID:2033 ! communication disorder

[Term]
id: DOID:9003420
name: Carbon Monoxide Poisoning
def: "Toxic asphyxiation due to the displacement of oxygen from oxyhemoglobin by carbon monoxide." [MESH:D002249]
synonym: "Carbon Monoxide Poisonings" EXACT []
synonym: "Illuminating Gas Poisoning" EXACT []
synonym: "Illuminating Gas Poisonings" EXACT []
xref: MESH:D002249
xref: RDO:0005106
is_a: DOID:9004169 ! Gas Poisoning

[Term]
id: DOID:9003421
name: Labor Pain
def: "Pain associated with OBSTETRIC LABOR in CHILDBIRTH. It is caused primarily by UTERINE CONTRACTION as well as pressure on the CERVIX; BLADDER; and the GASTROINTESTINAL TRACT. Labor pain mostly occurs in the ABDOMEN; the GROIN; and the BACK." [MESH:D048949]
synonym: "Obstetric Pain" EXACT []
xref: MESH:D048949
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9003422
name: Thyroid Cancer, Nonmedullary, 4
synonym: "NMTC4" EXACT []
xref: MIM:616534
is_a: DOID:3969 ! papillary thyroid carcinoma

[Term]
id: DOID:9003423
name: Upton Young Syndrome
synonym: "Mental retardation and multiple nevi" EXACT []
synonym: "Severe developmental delay and multiple strawberry naevi" EXACT []
xref: MESH:C536473
xref: RDO:0002066
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9003424
name: Opioid-Induced Constipation
def: "CONSTIPATION associated with the use of OPIOIDS." [MESH:D000079689]
synonym: "Narcotic Bowel Syndrome" EXACT []
xref: MESH:D000079689
is_a: DOID:9001581 ! Constipation
is_a: DOID:9004719 ! Narcotic-Related Disorders
created_by: slaulede
creation_date: 2020-02-06T18:44:18Z

[Term]
id: DOID:9003425
name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS
def: "A disease characterized by developmental delay and/or intellectual disability; corpus callosum hypoplasia or agenesis; facial dysmorphism, including upslanting palpebral fissures, broad nasal tip, and wide mouth; and skeletal abnormalities, including short stature, scoliosis, and flexion contractures, with broad fingertips and/or toes." [MIM:619194]
synonym: "NEURODEVELOPMENTAL DISORDER WITH CORPUS CALLOSUM AGENESIS, CRANIOFACIAL DYSMORPHISM, AND SKELETAL ANOMALIES, WITH OR WITHOUT RENAL AGENESIS" EXACT []
synonym: "NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS" EXACT []
synonym: "NFSRA" EXACT []
xref: MIM:619194
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
created_by: slaulede
creation_date: 2021-03-15T13:52:31Z

[Term]
id: DOID:9003426
name: Glycosuria
def: "The appearance of an abnormally large amount of GLUCOSE in the urine, such as more than 500 mg/day in adults. It can be due to HYPERGLYCEMIA or genetic defects in renal reabsorption (RENAL GLYCOSURIA)." [MESH:D006029]
synonym: "glucosuria" EXACT []
xref: MESH:D006029
is_a: DOID:4194 ! glucose metabolism disease
is_a: DOID:9003919 ! Urination Disorders

[Term]
id: DOID:9003427
name: Periprosthetic Fractures
def: "Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively." [MESH:D057068]
synonym: "Peri-Implant Fracture" EXACT []
synonym: "Peri Implant Fractures" EXACT []
synonym: "Periprosthetic Fracture" EXACT []
xref: EFO:1001823
xref: MESH:D057068
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9003429
name: Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques
alt_id: MIM:125320
xref: MESH:C565115
is_a: DOID:0080855 ! Parkinsonism
is_a: DOID:1307 ! dementia
is_a: DOID:9005832 ! Amyloid Plaques

[Term]
id: DOID:9003430
name: Sprengel Deformity
alt_id: MIM:184400
synonym: "High scapula" EXACT []
synonym: "Maladie de Sprengel familiale" EXACT []
synonym: "Sprengel's shoulder" EXACT []
xref: MESH:C535802
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9003431
name: Junctional Epidermolysis Bullosa 5A, Intermediate
synonym: "intermediate junctional epidermolysis bullosa 5A" EXACT []
synonym: "ITGB4-RELATED CONDITION" BROAD []
synonym: "JEB5A" EXACT []
synonym: "Junctional Epidermolysis Bullosa 5A, Generalized Intermediate" EXACT []
synonym: "Junctional Epidermolysis Bullosa 5A, Intermediate" EXACT []
synonym: "Junctional Epidermolysis Bullosa 5A, Non-Herlitz Type" EXACT []
xref: MIM:619816
is_a: DOID:0060738 ! junctional epidermolysis bullosa non-Herlitz type
created_by: mtutaj
creation_date: 2022-06-07T11:35:29Z

[Term]
id: DOID:9003432
name: Calloso-Genital Dysplasia
synonym: "Primary amenorrhoea with coloboma and total agenesis of the corpus callosum" EXACT []
xref: GARD:1055
xref: MESH:C537962
is_a: DOID:12270 ! coloboma
is_a: DOID:13938 ! amenorrhea
is_a: DOID:9001999 ! Agenesis of Corpus Callosum

[Term]
id: DOID:9003433
name: Hemifacial Hyperplasia with Strabismus
alt_id: MIM:141350
synonym: "Bencze Syndrome" EXACT []
xref: MESH:C564199
is_a: DOID:10376 ! amblyopia
is_a: DOID:540 ! strabismus
is_a: DOID:9008797 ! Facial Asymmetry

[Term]
id: DOID:9003434
name: Congenital Disorder of Glycosylation with Defective Fucosylation 1
synonym: "CDGF1" EXACT []
xref: MIM:618005
is_a: DOID:9001022 ! Congenital Disorder of Glycosylation with Defective Fucosylation
created_by: mtutaj
creation_date: 2019-03-15T12:14:04Z

[Term]
id: DOID:9003436
name: CRYPTOZOOSPERMIA
def: "A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made and azoospermia can be ruled out." []
synonym: "Cryptospermia" EXACT []
is_a: DOID:14228 ! oligospermia
created_by: slaulede
creation_date: 2020-01-09T12:48:55Z

[Term]
id: DOID:9003437
name: Tibia Absent Polydactyly Arachnoid Cyst
xref: MESH:C536918
xref: RDO:0002643
is_a: DOID:1148 ! polydactyly
is_a: DOID:9007612 ! Arachnoid Cysts

[Term]
id: DOID:9003438
name: Branchial Cleft Anomalies
alt_id: MIM:113600
xref: MESH:C562384
is_a: DOID:9004130 ! Pharyngeal Diseases
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003439
name: Spinal Osteophytosis
def: "Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS." [MESH:D013128]
synonym: "Spinal Osteophytoses" EXACT []
xref: EFO:1001846
xref: MESH:D013128
xref: RDO:0005367
is_a: DOID:0060564 ! spinal disease

[Term]
id: DOID:9003441
name: Nephrotic Syndrome Type 24
def: "An autosomal recessive renal disorder characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. Caused by homozygous or compound heterozygous mutation in the DAAM2 gene on chromosome 6p21. (OMIM)" []
synonym: "DAAM2-RELATED CONDITION" EXACT []
synonym: "NPHS24" EXACT []
xref: MIM:619263
is_a: DOID:2590 ! familial nephrotic syndrome
created_by: mtutaj
creation_date: 2021-04-13T13:26:31Z

[Term]
id: DOID:9003442
name: Konigsmark Knox Hussels Syndrome
synonym: "Deafness optic atrophy syndrome" EXACT []
synonym: "Dominant congenital deafness and progressive optic nerve atrophy" EXACT []
xref: MESH:C537214
xref: RDO:0003004
is_a: DOID:225 ! syndrome
is_a: DOID:9005850 ! Hereditary Optic Atrophies
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9003443
name: Central Nervous System Vascular Malformations
def: "Congenital, inherited, or acquired abnormalities involving ARTERIES; VEINS; or venous sinuses in the BRAIN; SPINAL CORD; and MENINGES." [MESH:D020785]
synonym: "Brain Capillary Telangiectasia" EXACT []
synonym: "Brain Capillary Telangiectasias" EXACT []
synonym: "Brain Vascular Malformation" EXACT []
synonym: "Brain Vascular Malformations" EXACT []
synonym: "Central Nervous System Congenital Vascular Malformations" EXACT []
synonym: "Central Nervous System Vascular Anomalies" EXACT []
synonym: "Congenital Vascular Malformations, Central Nevous System" EXACT []
synonym: "Dural Arteriovenous Fistula" EXACT []
synonym: "Dural Arteriovenous Fistulas" EXACT []
synonym: "Persistent Cerebral Embryonic Artery" EXACT []
synonym: "Pontine Capillary Telangiectasia" EXACT []
synonym: "Pontine Capillary Telangiectasias" EXACT []
synonym: "Vascular Malformations, Congenital, Nervous System" EXACT []
xref: MESH:D020785
xref: RDO:0005161
is_a: DOID:9003191 ! Vascular Malformations
is_a: DOID:9006534 ! Nervous System Malformations

[Term]
id: DOID:9003446
name: Homozygous 11p15-p14 Deletion Syndrome
alt_id: MIM:606528
synonym: "infantile hyperinsulinism with enteropathy and deafness" EXACT []
xref: MESH:C564701
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:2018 ! hyperinsulinism
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:9003447
name: Oxyurida Infections
def: "Infections with nematodes of the order OXYURIDA." [MESH:D017194]
synonym: "Oxyurida Infection" EXACT []
xref: MESH:D017194
is_a: DOID:9004401 ! Secernentea Infections

[Term]
id: DOID:9003448
name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA
def: "This disease is an autosomal recessive disorder characterized by global developmental delay with variably impaired intellectual development. Common features include axial hypotonia, peripheral spasticity, dystonia, cataracts, and seizures." [MIM:619286]
synonym: "NEDSCAC" EXACT []
xref: MIM:619286
is_a: DOID:0070338 ! cerebellar hypoplasia
is_a: DOID:83 ! cataract
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007428 ! Muscle Spasticity
created_by: slaulede
creation_date: 2021-05-14T10:59:32Z

[Term]
id: DOID:9003449
name: Deafness, Congenital Onychodystrophy, Recessive Form
synonym: "Deafness, Onycho-Osteodystrophy, mental Retardation syndrome" EXACT []
xref: MESH:C538204
xref: RDO:0004147
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9003450
name: Nonprogressive Heart Block
alt_id: RDO:0014620
xref: MESH:C566185
is_a: DOID:9003163 ! Heart Block

[Term]
id: DOID:9003451
name: Multiple mitochondrial dysfunctions syndrome 9A
def: "An autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades. (OMIM)" []
synonym: "ANOA" EXACT []
synonym: "Auditory neuropathy and optic atrophy" EXACT []
synonym: "FDXR-RELATED CONDITION" EXACT []
synonym: "MMDS9A" EXACT []
xref: MIM:617717
xref: MONDO:0060582
is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome
is_a: DOID:9001890 ! Auditory Neuropathy
is_a: DOID:9005850 ! Hereditary Optic Atrophies
created_by: rgd
creation_date: 2017-11-30T00:00:00Z

[Term]
id: DOID:9003452
name: Prostate Cancer, Hereditary, 9
synonym: "HPC9" EXACT []
xref: MESH:C567031
xref: MIM:610997
xref: MONDO:0012597
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9003453
name: Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive
alt_id: RDO:0015645
xref: MESH:C567608
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome
is_a: DOID:699 ! mitochondrial myopathy

[Term]
id: DOID:9003454
name: Scholte Syndrome
alt_id: MIM:300977
synonym: "Early balding, patella luxation, acromicria and hypogonadism" EXACT []
xref: MESH:C536638
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9003455
name: Teebi Shaltout Syndrome
alt_id: MIM:272950
synonym: "Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage" EXACT []
xref: MESH:C536950
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003456
name: Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein
xref: MESH:C564817
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9003459
name: Odontochondrodysplasia 1
alt_id: MIM:184260
synonym: "Goldblatt syndrome" EXACT []
synonym: "ODCD1" EXACT []
synonym: "spondylometaphyseal dysplasia with dentinogenesis imperfecta" EXACT []
xref: MESH:C535792
is_a: DOID:9003789 ! Odontochondrodysplasia

[Term]
id: DOID:9003460
name: Fraser-Like Syndrome
alt_id: MIM:229230
synonym: "fused eyelids, airway anomalies, ovarian cysts, and digital anomalies" EXACT []
xref: MESH:C565562
is_a: DOID:225 ! syndrome
is_a: DOID:5119 ! ovarian cyst
is_a: DOID:9007870 ! Respiratory System Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003461
name: Mirror Movements 2
alt_id: RDO:9000515
synonym: "MRMV2" EXACT []
xref: MIM:614508
is_a: DOID:0111153 ! congenital mirror movement disorder
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9003462
name: Chromosome 2, Trisomy 2p
synonym: "Duplication 2p" EXACT []
synonym: "Trisomy 2p" EXACT []
xref: MESH:C538318
xref: RDO:0004280
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9003463
name: Gingival Fibromatosis 2
alt_id: MIM:605544
synonym: "Fibromatosis, Gingival, Hereditary, 2" EXACT []
synonym: "GGF2" EXACT []
synonym: "GINGF2" EXACT []
synonym: "HGF2" EXACT []
xref: MESH:C565323
is_a: DOID:0060466 ! gingival fibromatosis

[Term]
id: DOID:9003464
name: Congenital Dysfibrinogenemia
alt_id: MIM:616004
def: "A hereditary, usually autosomal dominant disorder that affects the quality of circulating FIBRINOGEN. About half of patients are asymptomatic, and half have an increased tendency for bleeding, THROMBOSIS, or both." [MESH:C562727]
synonym: "DYSFIBRINOGENEMIA" BROAD []
synonym: "FIBRINOGEN AARHUS 1" RELATED []
synonym: "FIBRINOGEN ASAHI" RELATED []
synonym: "FIBRINOGEN BALTIMORE 3" RELATED []
synonym: "FIBRINOGEN BALTIMORE 4" RELATED []
synonym: "FIBRINOGEN BERGAMO 2" RELATED []
synonym: "FIBRINOGEN CARACAS 2" RELATED []
synonym: "FIBRINOGEN CARACAS II" RELATED []
synonym: "FIBRINOGEN PETOSKEY" RELATED []
xref: MESH:C562727
is_a: DOID:2236 ! congenital afibrinogenemia

[Term]
id: DOID:9003465
name: Daneman Davy Mancer Syndrome
alt_id: MIM:138790
synonym: "Multinodular goiter, cystic renal disease, and digital anomalies" EXACT []
synonym: "Multinodular Goiter-Cystic Renal Disease-Digital Anomalies" EXACT []
xref: MESH:C535986
is_a: DOID:0080322 ! polycystic kidney disease
is_a: DOID:13197 ! nodular goiter
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9003466
name: Cardiomyopathy Hypogonadism Collagenoma Syndrome
xref: MESH:C535582
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:854 ! collagen disease
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:9003467
name: Retinitis Pigmentosa 92
def: "Characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life. Caused by homozygous mutation in the HKDC1 gene on chromosome 10q22." [MIM:619614]
synonym: "RP92" EXACT []
xref: MIM:619614
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2021-11-15T12:28:12Z

[Term]
id: DOID:9003468
name: Apolipoprotein E, Deficiency or Defect of
alt_id: RDO:0014662
xref: MESH:C566260
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:9003469
name: Ichthyosis and Male Hypogonadism
alt_id: MIM:308200
synonym: "Ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation" EXACT []
synonym: "RUDS" NARROW []
synonym: "RUD SYNDROME" NARROW []
xref: MESH:C537365
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:1700 ! X-linked ichthyosis
is_a: DOID:1924 ! hypogonadism

[Term]
id: DOID:9003470
name: Picornaviridae Infections
def: "Virus diseases caused by the PICORNAVIRIDAE." [MESH:D010850]
synonym: "Picornaviridae Infection" EXACT []
synonym: "Picornavirus Infection" EXACT []
synonym: "Picornavirus Infections" EXACT []
xref: EFO:0007438
xref: MESH:D010850
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:9003471
name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
synonym: "ANE" EXACT []
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUCEPTIBILITY TO" EXACT []
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3" EXACT []
synonym: "ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO" EXACT []
synonym: "IIAE3" EXACT []
xref: MIM:608033
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9003472
name: Defect of Tricarboxylic Acid Cycle
xref: MESH:C564762
xref: MIM:275370
xref: MONDO:0010151
is_a: DOID:3650 ! lactic acidosis
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn

[Term]
id: DOID:9003473
name: Familial Hypercholanemia 2
synonym: "FHCA2" EXACT []
synonym: "NTCP deficiency" EXACT []
synonym: "SLC10A1-RELATED CONDITION" EXACT []
xref: MIM:619256
is_a: DOID:9007118 ! Familial Hypercholanemia
created_by: mtutaj
creation_date: 2021-04-13T11:54:41Z

[Term]
id: DOID:9003474
name: Aniridia and Absent Patella
alt_id: MIM:106220
xref: MESH:C566281
is_a: DOID:12271 ! aniridia

[Term]
id: DOID:9003475
name: Hypocalciuric Hypercalcemia, Acquired
alt_id: RDO:0013202
xref: MESH:C564151
is_a: DOID:12678 ! hypercalcemia

[Term]
id: DOID:9003476
name: Radiation-Induced Abnormalities
def: "Congenital changes in the morphology of organs produced by exposure to ionizing or non-ionizing radiation." [MESH:D000016]
synonym: "Radiation-Induced Abnormality" EXACT []
xref: MESH:D000016
is_a: DOID:9000111 ! Radiation Injuries
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9003477
name: Kleeblattschaedel Syndrome
alt_id: MIM:148800
synonym: "Cloverleaf skull syndrome" EXACT []
synonym: "Kleeblattschaedel-deformity syndrome" EXACT []
xref: MESH:C536884
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:9003478
name: Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A
alt_id: MIM:156310
xref: MESH:C563587
is_a: DOID:10581 ! metachromatic leukodystrophy

[Term]
id: DOID:9003479
name: Proportionate Dwarfism with Hip Dislocation
alt_id: MIM:223550
xref: MESH:C565614
is_a: DOID:9005560 ! Congenital Hip Dislocation
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9003480
name: Spastic Paraplegia, Ataxia, and Mental Retardation
alt_id: MIM:607565
xref: MESH:C564378
is_a: DOID:1059 ! intellectual disability
is_a: DOID:607 ! paraplegia
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9003481
name: Inhalant Abuse
def: "Illicit use of chemicals and products whose vapors can be inhaled to produce a rapid mind-altering effect. Inhalants include aerosols, gases, and volatile solvents that are often inhaled repeatedly to achieve the short-lived intoxicating effect." [MESH:D058545]
synonym: "Glue Abuse" EXACT []
synonym: "Glue Abuses" EXACT []
synonym: "Glue Sniffing" EXACT []
synonym: "Glue Sniffings" EXACT []
synonym: "Inhalant Abuses" EXACT []
xref: MESH:D058545
is_a: DOID:303 ! substance-related disorder

[Term]
id: DOID:9003482
name: Seckel Syndrome 3
xref: MESH:C563881
is_a: DOID:0050569 ! Seckel syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:9001487 ! Facies
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9003483
name: Conductive Hearing Loss
alt_id: RDO:0000754
def: "Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES." [MESH:D006314]
xref: MESH:D006314
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9003484
name: Atrial Tachycardia
def: "This disorder is characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology." [NCI:C35481]
xref: EFO:0005308
xref: ICD9:427.89
xref: MONDO:0005479
xref: NCI:C35481
is_a: DOID:9000006 ! Supraventricular Tachycardia
created_by: slaulede
creation_date: 2022-12-29T16:17:24Z

[Term]
id: DOID:9003487
name: Breastfeeding Jaundice
xref: MESH:C565501
is_a: DOID:2383 ! neonatal jaundice

[Term]
id: DOID:9003488
name: Postaxial Polydactyly, Type A1
alt_id: MIM:174200
alt_id: RDO:0012159
synonym: "GLI3-RELATED POSTAXIAL POLYDACTYLY" EXACT []
synonym: "PAPA" EXACT []
synonym: "PAPA1" EXACT []
synonym: "PAPB" NARROW []
synonym: "Postaxial Polydactyly B" EXACT []
synonym: "Postaxial Polydactyly, Type A" EXACT []
synonym: "Postaxial Polydactyly, Type A1/B" EXACT []
synonym: "Postaxial Polydactyly, Type B" EXACT []
xref: MESH:C562429
is_a: DOID:9003071 ! Postaxial Polydactyly

[Term]
id: DOID:9003489
name: Blepharophimosis Syndrome Type 1
synonym: "blepharophimosis, ptosis, and epicanthus inversus type I" EXACT []
synonym: "blepharophimosis, ptosis, and epicanthus inversus type I, autosomal recessive" EXACT []
synonym: "blepharophimosis, ptosis, epicanthus inversus type 1" EXACT []
synonym: "blepharophimosis, ptosis, epicanthus inversus with ovarian failure" EXACT []
synonym: "BPES, type I" EXACT []
synonym: "BPES, type I, autosomal recessive" EXACT []
synonym: "BPES with ovarian failure" EXACT []
xref: MESH:C536233
is_a: DOID:10787 ! premature menopause
is_a: DOID:14778 ! blepharophimosis, ptosis, and epicanthus inversus syndrome

[Term]
id: DOID:9003490
name: Myopia 22, Autosomal Dominant
synonym: "MYP22" EXACT []
xref: MIM:615420
xref: RDO:9000944
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9003491
name: Enterobacteriaceae Infections
def: "Infections with bacteria of the family ENTEROBACTERIACEAE." [MESH:D004756]
synonym: "Enterobacteriaceae Infection" EXACT []
synonym: "Enterobacterial Infection" EXACT []
synonym: "Enterobacterial Infections" EXACT []
xref: EFO:1001313
xref: MESH:D004756
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9003492
name: Oocyte/Zygote/Embryo Maturation Arrest 12
def: "Characterized by female infertility due to early embryonic arrest. Caused by homozygous mutation in the FBXO43 gene on chromosome 8q22." [MIM:619697]
synonym: "Oocyte Maturation Defect 12" EXACT []
synonym: "OOMD12" EXACT []
synonym: "OZEMA12" EXACT []
xref: MIM:619697
is_a: DOID:9007456 ! Female Infertility
created_by: mtutaj
creation_date: 2022-01-07T11:41:18Z

[Term]
id: DOID:9003493
name: primary pulmonary hypertension 2
synonym: "PPH2" EXACT []
synonym: "Primary Pulmonary Hypertension, 2" EXACT []
xref: MIM:615342
is_a: DOID:14557 ! primary pulmonary hypertension

[Term]
id: DOID:9003494
name: Uniparental Disomy of 13
synonym: "Maternal uniparental disomy of chromosome 13" EXACT []
synonym: "Paternal uniparental disomy 13" EXACT []
synonym: "Paternal uniparental disomy of chromosome 13" EXACT []
synonym: "Uniparental disomy of chromosome 13" EXACT []
xref: MESH:C536469
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:9003495
name: Diaper Rash
def: "A type of irritant dermatitis localized to the area in contact with a diaper and occurring most often as a reaction to prolonged contact with urine, feces, or retained soap or detergent." [MESH:D003963]
synonym: "Diaper Rashes" EXACT []
xref: MESH:D003963
is_a: DOID:2772 ! irritant dermatitis

[Term]
id: DOID:9003496
name: Diabetic Coma
def: "A state of unconsciousness as a complication of diabetes mellitus. It occurs in cases of extreme HYPERGLYCEMIA or extreme HYPOGLYCEMIA as a complication of INSULIN therapy." [MESH:D003926]
synonym: "Diabetic Comas" EXACT []
xref: MESH:D003926
is_a: DOID:9002661 ! Diabetes Complications

[Term]
id: DOID:9003497
name: Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization
synonym: "MERS" EXACT []
synonym: "mild encephalitis/encephalopathy with reversible splenial lesion" EXACT []
synonym: "MMERV" EXACT []
synonym: "MYRF-RELATED CONDITION" BROAD []
xref: MIM:618113
is_a: DOID:936 ! brain disease
created_by: mtutaj
creation_date: 2019-04-16T09:51:57Z

[Term]
id: DOID:9003498
name: Prader-Willi-Like Syndrome Associated with Chromosome 6
xref: MESH:C566764
xref: RDO:0015021
is_a: DOID:11983 ! Prader-Willi syndrome
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9003499
name: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES
def: "This disease is characterized by short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies." [MIM:619557]
synonym: "SIMHA" EXACT []
synonym: "SIMHA SYNDROME" EXACT []
synonym: "ZNF407-RELATED CONDITION" EXACT []
xref: MIM:619557
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008296 ! Eye Abnormalities
created_by: slaulede
creation_date: 2021-12-13T14:28:06Z

[Term]
id: DOID:9003502
name: Antecubital Pterygium
alt_id: MIM:178200
xref: MESH:C566738
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9003503
name: Penis Agenesis
synonym: "Agenesis of the penis" EXACT []
synonym: "Micropenis" EXACT []
synonym: "Penis agenesia" EXACT []
xref: MESH:C536649
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:9003504
name: Dentin Dysplasia, Type 1
alt_id: DOID:9003147
synonym: "DENTIN DYSPLASIA, SHIELDS TYPE I" EXACT []
synonym: "Dentin Dysplasia, Type I" EXACT []
synonym: "dentin dysplasia type I, with extreme microdontia and misshapen teeth" EXACT []
synonym: "DTDP1" EXACT []
synonym: "Hypoplasia of Teeth Roots" EXACT []
synonym: "radicular dentin dysplasia" EXACT []
synonym: "rootless teeth" EXACT []
xref: MESH:C538215
xref: MESH:C564144
xref: MIM:125400
xref: MONDO:0007436
is_a: DOID:701 ! dentin dysplasia

[Term]
id: DOID:9003505
name: Venous Thromboembolism
def: "Obstruction of a vein or VEINS (embolism) by a blood clot (THROMBUS) in the blood stream." [MESH:D054556]
synonym: "Venous thromboembolism, susceptibility to" RELATED []
synonym: "VENOUS THROMBOEMBOLISM THROMBOSIS, PROTECTION AGAINST" RELATED []
synonym: "VTE" EXACT []
xref: EFO:0004286
xref: MESH:D054556
is_a: DOID:9003121 ! Thromboembolism

[Term]
id: DOID:9003506
name: Cholera Morbus
alt_id: RDO:0007068
def: "An old term that is no longer used in the scientific literature. Cholera morbus refers to acute GASTROENTERITIS occurring in summer or autumn; characterized by severe cramps, diarrhea, and vomiting." [MESH:D017688]
synonym: "summer cholera" EXACT []
synonym: "summer choleras" EXACT []
xref: MESH:D017688
is_a: DOID:2326 ! gastroenteritis

[Term]
id: DOID:9003507
name: Premature Birth
def: "CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)." [MESH:D047928]
synonym: "Premature Births" EXACT []
synonym: "Preterm Birth" EXACT []
synonym: "Preterm Births" EXACT []
synonym: "spontaneous preterm birth" NARROW []
xref: EFO:0003917
xref: EFO:0006917
xref: MESH:D047928
is_a: DOID:9002633 ! Premature Obstetric Labor

[Term]
id: DOID:9003508
name: Iris Pigment Epithelium Anomalies
alt_id: MIM:601616
synonym: "Cysts of Iris Pigment Epithelium" EXACT []
synonym: "Ruffles and Cysts of Iris Pigment Epithelium" EXACT []
xref: MESH:C566651
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9003509
name: External Ophthalmoplegia and Myopia
alt_id: MIM:311000
alt_id: RDO:0013162
synonym: "Myopia-Ophthalmoplegia Syndrome" EXACT []
synonym: "OPEM" EXACT []
xref: MESH:C564087
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:11830 ! myopia
is_a: DOID:539 ! ophthalmoplegia

[Term]
id: DOID:9003510
name: Mandibular Nerve Injuries
def: "Traumatic injuries to the MANDIBULAR NERVE and its branches. Note that marginal mandibular nerve injury is a type of FACIAL NERVE INJURIES. Injuries to LINGUAL NERVE branch of mandibular nerve is LINGUAL NERVE INJURIES. (MESH)" []
synonym: "Auriculotemporal Nerve Injuries" EXACT []
synonym: "Auriculotemporal Nerve Injury" EXACT []
synonym: "Buccal Nerve Injuries" EXACT []
synonym: "Buccal Nerve Injury" EXACT []
synonym: "Deep Temporal Nerve Injuries" EXACT []
synonym: "Deep Temporal Nerve Injury" EXACT []
synonym: "Inferior Alveolar Nerve Injuries" EXACT []
synonym: "Inferior Alveolar Nerve Injury" EXACT []
synonym: "Lateral Pterygoid Nerve Injuries" EXACT []
synonym: "Lateral Pterygoid Nerve Injury" EXACT []
synonym: "mandibular nerve Injury" EXACT []
synonym: "Masseteric Nerve Injuries" EXACT []
synonym: "Masseteric Nerve Injury" EXACT []
synonym: "Mental Nerve Injuries" EXACT []
synonym: "Mental Nerve Injury" EXACT []
xref: MESH:D000080902
is_a: DOID:9006864 ! Trigeminal Nerve Injuries
created_by: mtutaj
creation_date: 2020-01-30T17:44:03Z

[Term]
id: DOID:9003511
name: ischemic cardiomyopathy
def: "This disease is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause." [EFO:0001425]
xref: EFO:0001425
is_a: DOID:3978 ! extrinsic cardiomyopathy
created_by: slaulede
creation_date: 2022-12-09T15:45:41Z

[Term]
id: DOID:9003513
name: Myopia 10
alt_id: MIM:609259
synonym: "MYP10" EXACT []
xref: MESH:C563758
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9003514
name: Congenital Partial Atresia of Larynx
alt_id: MIM:150300
xref: MESH:C563637
is_a: DOID:786 ! laryngeal disease

[Term]
id: DOID:9003515
name: Neonatal Pulmonary Hypertension
synonym: "CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM" RELATED []
synonym: "neonatal pulmonary hypertension, susceptibility to" RELATED []
synonym: "PHN" EXACT []
xref: MIM:615371
is_a: DOID:14557 ! primary pulmonary hypertension
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9003516
name: Channelopathies
def: "A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS." [MESH:D053447]
synonym: "Channelopathy" EXACT []
xref: MESH:D053447
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9003518
name: Alsing Syndrome
xref: MESH:C536588
xref: RDO:0002214
is_a: DOID:12270 ! coloboma
is_a: DOID:225 ! syndrome
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9003519
name: Pathologic Bone Demineralization
def: "Decrease, loss, or removal of the mineral constituents of bones. Temporary loss of bone mineral content is especially associated with space flight, weightlessness, and extended immobilization. OSTEOPOROSIS is permanent, includes reduction of total bone mass, and is associated with increased rate of fractures. CALCIFICATION, PHYSIOLOGIC is the process of bone remineralizing. (From Dorland, 27th ed; Stedman, 25th ed; Nicogossian, Space Physiology and Medicine, 2d ed, pp327-33)" [MESH:D018488]
xref: MESH:D018488
is_a: DOID:9002278 ! Metabolic Bone Diseases

[Term]
id: DOID:9003521
name: Glycogen Storage Disease ID
synonym: "GSD1d" EXACT []
xref: MESH:C562806
is_a: DOID:0081329 ! glycogen storage disease I

[Term]
id: DOID:9003522
name: Spastic Paraplegia with Neuropathy and Poikiloderma
alt_id: MIM:182815
synonym: "familial spastic paraplegia with neuropathy and poikiloderma" EXACT []
synonym: "spastic paraplegia, neuropathy, poikiloderma" EXACT []
xref: MESH:C536870
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:2732 ! Rothmund-Thomson syndrome

[Term]
id: DOID:9003523
name: Canaliculitis
def: "Inflammation and infection of the lacrimal canaliculus area in the LACRIMAL APPARATUS." [MESH:D000069282]
synonym: "Canaliculitides" EXACT []
synonym: "Lacrimal Canaliculitides" EXACT []
synonym: "Lacrimal Canaliculitis" EXACT []
xref: MESH:D000069282
is_a: DOID:9938 ! dacryocystitis

[Term]
id: DOID:9003524
name: Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay
alt_id: MIM:112370
xref: MESH:C566206
is_a: DOID:11725 ! Cornelia de Lange syndrome

[Term]
id: DOID:9003525
name: Myopia 21, Autosomal Dominant
synonym: "MYP21" EXACT []
xref: MIM:614167
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9003526
name: Recurrent Laryngeal Nerve Injuries
def: "Traumatic injuries to the RECURRENT LARYNGEAL NERVE that may result in vocal cord dysfunction." [MESH:D061226]
synonym: "Recurrent Laryngeal Nerve Contusion" EXACT []
synonym: "Recurrent Laryngeal Nerve Injury" EXACT []
synonym: "Recurrent Laryngeal Nerve Transection" EXACT []
synonym: "Recurrent Laryngeal Nerve Trauma" EXACT []
synonym: "Recurrent Laryngeal Neuropathy, Traumatic" EXACT []
xref: MESH:D061226
xref: RDO:0010062
is_a: DOID:9003057 ! Laryngeal Nerve Injuries

[Term]
id: DOID:9003527
name: Poroma
def: "A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin." [MESH:D057091]
synonym: "Apocrine Poroma" EXACT []
synonym: "Apocrine Poromas" EXACT []
synonym: "Eccrine Poroma" EXACT []
synonym: "Hidracanthoma Simplex" EXACT []
synonym: "Poromas" EXACT []
xref: EFO:1001826
xref: MESH:D057091
xref: RDO:0007778
is_a: DOID:5442 ! eccrine acrospiroma

[Term]
id: DOID:9003528
name: Osteopetrosis Lethal
synonym: "Autosomal malignant osteopetrosis" EXACT []
xref: MESH:C536057
xref: RDO:0001473
is_a: DOID:13533 ! osteopetrosis

[Term]
id: DOID:9003529
name: Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps
alt_id: MIM:611773
synonym: "Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures" EXACT []
synonym: "Hanac" EXACT []
synonym: "HANAC-LIKE SYNDROME" RELATED []
synonym: "Hanac Syndrome" EXACT []
synonym: "Hereditary Angiopathy with Nephropathy, Aneurysm, and Muscle Cramps Syndrome" EXACT []
synonym: "Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Syndrome" EXACT []
xref: GARD:10889
xref: MESH:C567088
xref: MONDO:0012726
xref: ORDO:73229
is_a: DOID:10300 ! Raynaud disease
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9000373 ! Muscle Cramp

[Term]
id: DOID:9003530
name: Al-Raqad Syndrome
synonym: "ARS" EXACT []
xref: MIM:616459
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9003532
name: IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC)
def: "This disease is an autosomal dominant immunologic condition characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV. The viral reactivation manifests as central nervous system vasculitis with stroke-like episodes and lacunar infarcts on brain imaging. Features include headache, hemiparesis, impaired balance, and other neurologic signs. The disorder results from an impaired innate immune response specifically to VZV DNA." [MIM:619872]
synonym: "IMD101" EXACT []
synonym: "immunodeficiency-101 (varicella zoster virus-specific" EXACT []
xref: MIM:619872
is_a: DOID:612 ! primary immunodeficiency disease
created_by: slaulede
creation_date: 2022-06-24T10:51:42Z

[Term]
id: DOID:9003533
name: Graft Pancreatitis
alt_id: RDO:0007712
def: "An inflammatory disease and serious complication of PANCREAS TRANSPLANTATION. It is caused by a premature activation of pancreatic proenzymes leading to autodigestion of the gland and can be attributed to immunological or nonimmunological causes." [MESH:D055589]
xref: MESH:D055589
is_a: DOID:4989 ! pancreatitis

[Term]
id: DOID:9003534
name: Erythroderma Desquamativa of Leiner
synonym: "Erythroderma Desquamativum of Infancy" EXACT []
synonym: "Generalized erythroderma, diarrhea, and failure to thrive" EXACT []
synonym: "Leiner-Moussous Desquamative Erythroderma" EXACT []
xref: MESH:C535512
xref: RDO:0000660
is_a: DOID:9006215 ! Exfoliative Dermatitis

[Term]
id: DOID:9003535
name: Bone Marrow Failure Syndrome 5
synonym: "BMFS5" EXACT []
xref: MIM:618165
is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes
created_by: mtutaj
creation_date: 2019-03-15T14:09:34Z

[Term]
id: DOID:9003536
name: Familial Thoracic Aortic Aneurysm 8
synonym: "AAT8" EXACT []
synonym: "PRKG1-RELATED CONDITION" EXACT []
xref: MIM:615436
is_a: DOID:14004 ! thoracic aortic aneurysm

[Term]
id: DOID:9003537
name: Phosphohydroxylysinuria
synonym: "PHLU" EXACT []
xref: MIM:615011
is_a: DOID:655 ! inherited metabolic disorder
created_by: rgd
creation_date: 2015-06-11T00:00:00Z

[Term]
id: DOID:9003538
name: Myotonia with Skeletal Abnormalities and Mental Retardation
alt_id: MIM:255710
xref: MESH:C564967
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2106 ! myotonia congenita

[Term]
id: DOID:9003539
name: Hyperacusis
def: "An abnormally disproportionate increase in the sensation of loudness in response to auditory stimuli of normal volume. COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; FACIAL NERVE DISEASES; STAPES SURGERY; and other disorders may be associated with this condition." [MESH:D012001]
synonym: "Auditory Hyperesthesia" EXACT []
synonym: "Auditory Hyperesthesias" EXACT []
synonym: "Hyperacuses" EXACT []
synonym: "Hyperacusia" EXACT []
synonym: "Hyperacusias" EXACT []
synonym: "Loudness Perception Disturbance" EXACT []
synonym: "Loudness Perception Disturbances" EXACT []
synonym: "Loudness Recruitment" EXACT []
synonym: "Loudness Recruitments" EXACT []
synonym: "Phonophobia" EXACT []
synonym: "Phonophobias" EXACT []
xref: MESH:D012001
is_a: DOID:9002500 ! Hearing Disorders

[Term]
id: DOID:9003540
name: Postaxial Polydactyly, Type A10
synonym: "PAPA10" EXACT []
xref: MIM:618498
is_a: DOID:9003071 ! Postaxial Polydactyly
created_by: mtutaj
creation_date: 2019-07-15T08:34:22Z

[Term]
id: DOID:9003541
name: Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance
alt_id: MIM:162380
xref: MESH:C563517
is_a: DOID:11589 ! Riley-Day syndrome
is_a: DOID:231 ! motor neuron disease
is_a: DOID:2477 ! motor peripheral neuropathy
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:9003542
name: Keratoconus 5
synonym: "KTCN5" EXACT []
xref: MIM:614622
is_a: DOID:10126 ! keratoconus

[Term]
id: DOID:9003543
name: Motor Neuron Disease with Dementia and Ophthalmoplegia
alt_id: MIM:600333
xref: MESH:C563954
is_a: DOID:1307 ! dementia
is_a: DOID:231 ! motor neuron disease
is_a: DOID:539 ! ophthalmoplegia

[Term]
id: DOID:9003544
name: Visceral Heterotaxy 9, Autosomal
synonym: "autosomal visceral heterotaxy-9 with male infertility" EXACT []
synonym: "HTX9" EXACT []
synonym: "MNS1-RELATED CONDITION" EXACT []
xref: MIM:618948
is_a: DOID:0050545 ! visceral heterotaxy
is_a: DOID:12336 ! male infertility
created_by: mtutaj
creation_date: 2020-07-23T09:31:18Z

[Term]
id: DOID:9003545
name: Paraneoplastic Cerebellar Degeneration
def: "Cerebellar degeneration associated with a remote neoplasm. Clinical manifestations include progressive limb and GAIT ATAXIA; DYSARTHRIA; and NYSTAGMUS, PATHOLOGIC. The histologic type of the associated neoplasm is usually carcinoma or lymphoma. Pathologically the cerebellar cortex and subcortical nuclei demonstrate diffuse degenerative changes. Anti-Purkinje cell antibodies (anti-Yo) are found in the serum of approximately 50% of affected individuals. (Adams et al., Principles of Neurology, 6th ed, p686)" [MESH:D020362]
synonym: "Anti Yo Associated Paraneoplastic Cerebellar Degeneration" EXACT []
synonym: "Paraneoplastic Cerebellar Syndrome" EXACT []
synonym: "Paraneoplastic Cerebellar Syndromes" EXACT []
xref: MESH:D020362
xref: RDO:0007401
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes

[Term]
id: DOID:9003546
name: Total Intestinal Aganglionosis
alt_id: MIM:202550
alt_id: RDO:0003993
def: "A rare, uniformly fatal condition with absence of ganglia from the duodenum to the rectum." [PMID:4045675]
synonym: "Near-total intestinal aganglionosis" EXACT []
xref: MESH:C538058
is_a: DOID:10487 ! Hirschsprung's disease

[Term]
id: DOID:9003548
name: Infant, Newborn, Diseases
alt_id: RDO:0004815
def: "Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts." [MESH:D007232]
synonym: "Neonatal Disease" EXACT []
synonym: "Neonatal Diseases" EXACT []
synonym: "perinatal disease" BROAD []
xref: EFO:0010238
xref: MESH:D007232
is_a: DOID:9004324 ! Congenital, Hereditary, and Neonatal Diseases and Abnormalities

[Term]
id: DOID:9003549
name: Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
synonym: "episodic encephalopathy due to thiamine pyrophosphokinase deficiency" EXACT []
synonym: "THMD5" EXACT []
xref: MIM:614458
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9005627 ! Metabolic Brain Diseases

[Term]
id: DOID:9003550
name: Distal Transverse Limb Defects with Mental Retardation and Spasticity
alt_id: MIM:246555
xref: MESH:C565438
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9003551
name: German Syndrome
alt_id: MIM:231080
xref: MESH:C562543
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:225 ! syndrome
is_a: DOID:4977 ! lymphedema
is_a: DOID:9000831 ! Hypokinesia
is_a: DOID:9005603 ! Muscle Hypotonia

[Term]
id: DOID:9003552
name: Candidiasis, Familial, 8
alt_id: RDO:9000981
synonym: "CANDF8" EXACT []
xref: MIM:615527
is_a: DOID:2058 ! chronic mucocutaneous candidiasis

[Term]
id: DOID:9003554
name: Glycosylphosphatidylinositol Biosynthesis Defect 25
def: "A glycosylphosphatidylinositol biosynthesis defect caused by homozygous mutation in the C18ORF32 gene on chromosome 18q21." [MIM:619985]
synonym: "GPIBD25" EXACT []
synonym: "neurodevelopmental disorder with hypotonia and contractures" EXACT []
xref: MIM:619985
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2022-08-08T11:10:29Z

[Term]
id: DOID:9003555
name: Androgen Insensitivity Syndrome due to Coactivator Deficiency
xref: MESH:C564545
is_a: DOID:4674 ! androgen insensitivity syndrome

[Term]
id: DOID:9003556
name: Floating-Betalipoproteinemia
alt_id: RDO:0014667
xref: MESH:C566265
is_a: DOID:3145 ! hyperlipoproteinemia type III

[Term]
id: DOID:9003558
name: Neurofibromatosis, Familial Intestinal
synonym: "Neurofibromatosis 3B" EXACT []
xref: MESH:C537391
xref: RDO:0003229
is_a: DOID:8712 ! neurofibromatosis

[Term]
id: DOID:9003559
name: Brachyolmia Type 3
alt_id: MIM:113500
synonym: "BCYM3" EXACT []
synonym: "Brachyolmia, autosomal dominant" EXACT []
xref: MESH:C562963
is_a: DOID:0050690 ! brachyolmia

[Term]
id: DOID:9003561
name: 5-Nucleotidase Syndrome
xref: MESH:C535321
is_a: DOID:225 ! syndrome
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9003562
name: Primary Autosomal Recessive Microcephaly 29
def: "A disease characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities. Caused by homozygous mutation in the PDCD6IP gene on chromosome 3p22" [MIM:620047]
synonym: "MCPH29" EXACT []
xref: MIM:620047
is_a: DOID:0070296 ! primary autosomal recessive microcephaly
created_by: mtutaj
creation_date: 2022-09-22T15:38:24Z

[Term]
id: DOID:9003563
name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
def: "This is a disease characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills." [MIM:619229]
synonym: "DEN HOED-DE BOER-VOISIN SYNDROME" EXACT []
synonym: "DHDBV" EXACT []
synonym: "KTZSL" EXACT []
synonym: "SATB1-RELATED CONDITION" BROAD []
xref: MIM:619229
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2021-04-09T10:15:12Z

[Term]
id: DOID:9003564
name: Myofibromatosis
def: "A condition characterized by multiple formations of myofibromas (LEIOMYOMA)." [MESH:D018224]
synonym: "Myofibromatoses" EXACT []
xref: MESH:D018224
xref: RDO:0007121
is_a: DOID:9008446 ! Fibrous Tissue Neoplasms

[Term]
id: DOID:9003565
name: Paratuberculosis
def: "A chronic GASTROENTERITIS in RUMINANTS caused by MYCOBACTERIUM AVIUM SUBSPECIES PARATUBERCULOSIS." [MESH:D010283]
synonym: "Johne's Disease" EXACT []
synonym: "Johne Disease" EXACT []
synonym: "Johnes Disease" EXACT []
synonym: "Paratuberculoses" EXACT []
xref: MESH:D010283
is_a: DOID:9001415 ! Mycobacterium Infections
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9003566
name: Mesothelioma
def: "A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)" [MESH:D008654]
synonym: "Mesotheliomas" EXACT []
xref: EFO:0000588
xref: MESH:D008654
xref: NCI:C21619
is_a: DOID:657 ! adenoma
is_a: DOID:9002899 ! Mesothelial Neoplasms

[Term]
id: DOID:9003567
name: Cutaneous Bullous Amyloidosis
alt_id: MIM:204900
xref: MESH:C562644
is_a: DOID:2731 ! vesiculobullous skin disease
is_a: DOID:9004492 ! Familial Amyloidosis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9003568
name: Cataract, Congenital Dominant Non Nuclear
synonym: "autosomal dominant nonnuclear polymorphic congenital cataract" EXACT []
synonym: "polymorphic congenital cataract" EXACT []
xref: MESH:C538284
is_a: DOID:83 ! cataract

[Term]
id: DOID:9003570
name: Kaya-Barakat-Masson Syndrome
synonym: "KABAMAS" EXACT []
xref: MIM:619125
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2020-12-18T11:54:13Z

[Term]
id: DOID:9003571
name: Paraproteinemias
def: "A group of related diseases characterized by an unbalanced or disproportionate proliferation of immunoglobulin-producing cells, usually from a single clone. These cells frequently secrete a structurally homogeneous immunoglobulin (M-component) and/or an abnormal immunoglobulin." []
synonym: "monoclonal gammapathies" EXACT []
synonym: "Monoclonal Gammapathy" EXACT []
synonym: "Monoclonal Gammopathies" EXACT []
synonym: "Monoclonal Gammopathy" EXACT []
synonym: "Paraimmunoglobulinemia" EXACT []
synonym: "Paraimmunoglobulinemias" EXACT []
synonym: "Paraproteinemia" EXACT []
synonym: "Plasma Cell Dyscrasia" EXACT []
synonym: "plasma cell dyscrasias" EXACT []
xref: MESH:D010265
is_a: DOID:620 ! blood protein disease
is_a: DOID:9008463 ! Immunoproliferative Disorders

[Term]
id: DOID:9003572
name: Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
alt_id: MIM:602562
xref: MESH:C566520
is_a: DOID:1934 ! dysostosis
is_a: DOID:9008205 ! Macrostomia
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003573
name: Congenital Arthrogryposis with Anterior Horn Cell Disease
alt_id: MIM:611890
alt_id: RDO:0015562
def: "This disease is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy." []
synonym: "CAAHD" EXACT []
synonym: "GLE1-RELATED CONDITION" BROAD []
synonym: "GLE1-RELATED DISORDER" BROAD []
synonym: "LAAHD" EXACT []
synonym: "lethal arthrogryoposis with anterior horn cell disease" RELATED []
synonym: "lethal arthrogryposis with anterior horn cell disease" EXACT []
xref: MESH:C567502
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:9001897 ! MOTOR NEURON ATROPHY

[Term]
id: DOID:9003574
name: Congenital Visceral Steatosis
alt_id: MIM:228100
synonym: "congenital fatty liver disease" EXACT []
synonym: "fatal neonatal hepatic steatosis" EXACT []
synonym: "fatty metamorphosis of viscera" EXACT []
synonym: "white liver disease" EXACT []
xref: MESH:C536351
is_a: DOID:9452 ! steatotic liver disease

[Term]
id: DOID:9003575
name: Insulin Coma
def: "Severe HYPOGLYCEMIA induced by a large dose of exogenous INSULIN resulting in a COMA or profound state of unconsciousness from which the individual cannot be aroused." [MESH:D007331]
synonym: "Insulin Shock" EXACT []
xref: MESH:D007331
is_a: DOID:9006462 ! Coma
is_a: DOID:9993 ! hypoglycemia

[Term]
id: DOID:9003576
name: Prognathism
def: "A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed)" [MESH:D011378]
synonym: "prognathisms" EXACT []
xref: MESH:D011378
is_a: DOID:9000066 ! Jaw Abnormalities
is_a: DOID:9006309 ! Mandibular Diseases

[Term]
id: DOID:9003578
name: Myeloid Splenomegaly
synonym: "Idiopathic myeloid splenomegaly" EXACT []
xref: MESH:C536094
is_a: DOID:4837 ! Gorham's disease
is_a: DOID:9002720 ! Splenomegaly

[Term]
id: DOID:9003579
name: Complex Camptosynpolydactyly
alt_id: MIM:607539
synonym: "CCSPD" EXACT []
synonym: "Disorganization Type Camptopolydactyly" EXACT []
xref: MESH:C564383
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9003580
name: Primary Congenital Glaucoma 3, D
alt_id: MIM:613086
synonym: "GLC3D" EXACT []
xref: MESH:C567765
is_a: DOID:0050593 ! primary congenital glaucoma

[Term]
id: DOID:9003582
name: Muscle Tissue Neoplasms
alt_id: MESH:D019042
def: "Neoplasms composed of muscle tissue: skeletal, cardiac, or smooth. The concept does not refer to neoplasms located in muscles." [MESH:D009379, MESH:D019042]
synonym: "muscle neoplasm" EXACT []
synonym: "muscle neoplasms" EXACT []
synonym: "muscle tissue neoplasm" EXACT []
synonym: "myofibroblastoma" EXACT []
synonym: "myofibroblastomas" EXACT []
xref: MESH:D009379
is_a: DOID:66 ! muscle tissue disease
is_a: DOID:9007429 ! Soft Tissue Neoplasms
is_a: DOID:9008612 ! Connective and Soft Tissue Neoplasms

[Term]
id: DOID:9003583
name: Chromosome 13q33-q34 Deletion Syndrome
xref: MIM:619148
is_a: DOID:0060388 ! chromosomal deletion syndrome
created_by: mtutaj
creation_date: 2021-01-11T09:19:59Z

[Term]
id: DOID:9003584
name: Tooth Injuries
def: "Traumatic or other damage to teeth including fractures (TOOTH FRACTURES) or displacements (TOOTH LUXATION)." [MESH:D018677]
synonym: "Teeth Injuries" EXACT []
synonym: "Teeth Injury" EXACT []
synonym: "Tooth Injury" EXACT []
xref: MESH:D018677
is_a: DOID:1091 ! tooth disease
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9003585
name: Major Depressive Disorder 1
alt_id: MIM:608520
synonym: "MDD1" EXACT []
synonym: "Unipolar Depression 1" EXACT []
xref: MESH:C563919
xref: RDO:0013045
is_a: DOID:1470 ! major depressive disorder

[Term]
id: DOID:9003586
name: Pancreatitis, Sclerosing Cholangitis, and Sicca Complex
alt_id: MIM:260480
xref: MESH:C564906
is_a: DOID:12894 ! Sjogren's syndrome
is_a: DOID:14268 ! sclerosing cholangitis
is_a: DOID:9006190 ! Chronic Pancreatitis

[Term]
id: DOID:9003587
name: Congenital Heart Defects, Multiple Types, 1, X-Linked
alt_id: MIM:306955
synonym: "CHTD1" NARROW []
synonym: "dextrocardia with other cardiac malformations" EXACT []
synonym: "Heterotaxy, Visceral, 1, X-Linked" EXACT []
synonym: "Heterotaxy, Visceral, X-Linked" EXACT []
synonym: "HTX1" EXACT []
synonym: "Laterality, X-linked" EXACT []
synonym: "situs inversus, complex cardiac defects, and splenic defects, X-linked" EXACT []
synonym: "visceral heterotaxia" EXACT []
xref: EFO:0009136
xref: MESH:C538116
is_a: DOID:0050545 ! visceral heterotaxy
is_a: DOID:9006385 ! Congenital Heart Defects, X-Linked
is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types
is_a: DOID:9565 ! dextrocardia

[Term]
id: DOID:9003588
name: Multisystem Autoimmune Disease, Infantile-Onset, 3
def: "An autosomal recessive disorder of immune dysregulation characterized by the onset of various systemic autoimmune manifestations in the first months or years of life. Caused by homozygous mutation in the CBLB gene on chromosome 3q13." [MIM:620430]
synonym: "ADMIO3" EXACT []
synonym: "CBLB deficiency" EXACT []
xref: MIM:620430
xref: MONDO:0957388
is_a: DOID:9002419 ! Multisystem Autoimmune Disease, Infantile-Onset
created_by: mtutaj
creation_date: 2023-07-07T12:42:35Z

[Term]
id: DOID:9003589
name: Acromegaloid Facial Appearance Syndrome
alt_id: MIM:102150
synonym: "Thick lips and oral mucosa" EXACT []
xref: MESH:C535655
is_a: DOID:225 ! syndrome
is_a: DOID:2449 ! acromegaly
is_a: DOID:420 ! hypertrichosis
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9003590
name: Duane Retraction Syndrome 2
synonym: "Duane retraction syndrome type 2" EXACT []
synonym: "Duane syndrome type 2" EXACT []
synonym: "DURS2" EXACT []
xref: MIM:604356
is_a: DOID:12557 ! Duane retraction syndrome
created_by: mtutaj
creation_date: 2020-03-02T08:45:40Z

[Term]
id: DOID:9003591
name: Telecanthus
alt_id: MIM:187350
xref: MESH:C562941
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003592
name: Wiedemann Oldigs Oppermann Syndrome
alt_id: MIM:142625
def: "A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal abnormalities." []
synonym: "hirsutism, skeletal dysplasia, mental retardation syndrome" EXACT []
xref: MESH:C536705
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9004507 ! Hirsutism

[Term]
id: DOID:9003594
name: Mitochondrial Cytopathy
alt_id: RDO:0004610
def: "Mitochondrial cytopathies are a diverse group of inherited and acquired disorders that result in inadequate energy production. They can be caused by inheritable genetic mutations, acquired somatic mutations, exposure to toxins (including some prescription medications), and the aging process itself. In addition, a number of well-described diseases can decrease mitochondrial energy production; these include hyperthyroidism, hypothyroidism, and hyperlipidemia." [url:http\://members.ziggo.nl/b.beukema/mitocytopathy.pdf]
xref: MESH:C540770
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9003595
name: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY
def: "This disease is characterized by early-onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area." [MIM:619354]
synonym: "DCIDP" EXACT []
xref: MIM:619354
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:83 ! cataract
is_a: DOID:9008681 ! Deafness
created_by: slaulede
creation_date: 2021-08-12T10:01:47Z

[Term]
id: DOID:9003596
name: Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome
alt_id: MIM:100820
synonym: "Achoo Syndrome" EXACT []
synonym: "Autosomal Dominant Compelling Helioophthalmic Outburst Syndrome" EXACT []
synonym: "Peroutka sneeze" EXACT []
synonym: "Photic sneeze reflex" EXACT []
xref: EFO:0007887
xref: MESH:C535300
is_a: DOID:225 ! syndrome
is_a: DOID:9000133 ! Sneezing

[Term]
id: DOID:9003597
name: May-Thurner Syndrome
def: "A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation." [MESH:D062108]
synonym: "Cockett Syndrome" EXACT []
synonym: "Iliac Vein Compression Syndrome" EXACT []
synonym: "Iliocaval Compression Syndrome" EXACT []
synonym: "Iliocaval Compression Syndromes" EXACT []
xref: MESH:D062108
xref: RDO:0012103
is_a: DOID:225 ! syndrome
is_a: DOID:341 ! peripheral vascular disease
is_a: DOID:9003191 ! Vascular Malformations

[Term]
id: DOID:9003598
name: Glaucoma 1, Open Angle, H
alt_id: MIM:611276
synonym: "GLC1H" EXACT []
xref: MESH:C566976
is_a: DOID:1070 ! primary open angle glaucoma

[Term]
id: DOID:9003599
name: Alves Castelo dos Santos Syndrome
alt_id: RDO:0002221
synonym: "Ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract" EXACT []
xref: MESH:C536593
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9003600
name: Shoulder Pain
def: "Unilateral or bilateral pain of the shoulder. It is often caused by physical activities such as work or sports participation, but may also be pathologic in origin." [MESH:D020069]
synonym: "Shoulder Pains" EXACT []
xref: MESH:D020069
is_a: DOID:9006065 ! Arthralgia

[Term]
id: DOID:9003601
name: Pseudoinflammatory Fundus Dystrophy, Finnish Type
alt_id: MIM:264420
synonym: "Fundus dystrophy, pseudoinflammatory recessive form" EXACT []
synonym: "PFD, Finnish type" EXACT []
synonym: "PFD, Lavia type" EXACT []
synonym: "Pseudoinflammatory fundus dystrophy" EXACT []
synonym: "Pseudoinflammatory fundus dystrophy, Lavia type" EXACT []
xref: MESH:C535828
is_a: DOID:8501 ! fundus dystrophy

[Term]
id: DOID:9003602
name: Patent Ductus Arteriosus 2
synonym: "PDA2" EXACT []
xref: MIM:617035
xref: RDO:9001463
is_a: DOID:13832 ! patent ductus arteriosus
created_by: rgd
creation_date: 2017-03-13T00:00:00Z

[Term]
id: DOID:9003603
name: Hemolysis
def: "The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity." [MESH:D006461]
synonym: "Extravascular Hemolyses" EXACT []
synonym: "Extravascular Hemolysis" EXACT []
synonym: "G6PD GIFU" RELATED []
synonym: "Intravascular Hemolyses" EXACT []
synonym: "Intravascular Hemolysis" EXACT []
xref: EFO:0009473
xref: MESH:D006461
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9003604
name: Pulmonary Atresia with Intact Ventricular Septum
alt_id: MIM:265150
xref: MESH:C562832
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9007098 ! Pulmonary Atresia

[Term]
id: DOID:9003605
name: Glaucoma 1, Open Angle, B
synonym: "GLC1B" EXACT []
xref: MIM:606689
is_a: DOID:1070 ! primary open angle glaucoma

[Term]
id: DOID:9003606
name: dental phobia
def: "This is the fear of dentistry and of receiving dental care." [EFO:1001884]
synonym: "dental anxiety" EXACT []
synonym: "dental fear" EXACT []
synonym: "dentist phobia" EXACT []
synonym: "dentophobia" EXACT []
synonym: "odontophobia" EXACT []
xref: EFO:1001884
is_a: DOID:599 ! specific phobia
created_by: slaulede
creation_date: 2023-02-27T15:50:10Z

[Term]
id: DOID:9003607
name: Giacheti Syndrome
alt_id: MIM:612917
synonym: "Marfanoid Habitus and Specific Language and Learning Disabilities" EXACT []
xref: MESH:C567864
is_a: DOID:225 ! syndrome
is_a: DOID:8927 ! learning disability
is_a: DOID:9001487 ! Facies
is_a: DOID:93 ! language disorder

[Term]
id: DOID:9003608
name: Dilated Cardiomyopathy 3A
synonym: "Cardiomyopathy, Dilated, X-Linked Fatal Infantile" EXACT []
xref: MESH:C564721
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:9003610
name: Asthenopia
alt_id: DOID:10141
def: "Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches." []
synonym: "accommodative strain" EXACT []
synonym: "Eye Fatigue" EXACT []
synonym: "Eyestrain" EXACT []
synonym: "visual fatigue" EXACT []
xref: MESH:D001248
is_a: DOID:5614 ! eye disease
created_by: mtutaj
creation_date: 2019-11-21T07:18:40Z

[Term]
id: DOID:9003611
name: Trachomatous Trichiasis
def: "A complication of a conjunctival and corneal infection by Chlamydia trachomatis, consisting of eyelashes abnormally turning inward and producing constant irritation caused by motion of the lids." []
synonym: "TT" EXACT []
is_a: DOID:11265 ! trachoma
is_a: DOID:9007647 ! Trichiasis

[Term]
id: DOID:9003612
name: Peroxisome Biogenesis Disorder, Complementation Group 12
xref: MESH:C566405
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9003613
name: Laryngeal Neoplasms
def: "Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." [MESH:D007822]
synonym: "Laryngeal Neoplasm" EXACT []
synonym: "laryngeal tumor" EXACT []
synonym: "larynx neoplasm" EXACT []
synonym: "larynx neoplasms" EXACT []
synonym: "neoplasm of larynx" EXACT []
xref: EFO:0003817
xref: MESH:D007822
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9003744 ! Respiratory Tract Neoplasms
is_a: DOID:9006815 ! Otorhinolaryngologic Neoplasms

[Term]
id: DOID:9003614
name: Roy Maroteaux Kremp Syndrome
alt_id: MIM:250500
synonym: "Metaphyseal modeling abnormality, skin lesions, and Spastic paraplegia" EXACT []
xref: MESH:C535875
is_a: DOID:13533 ! osteopetrosis
is_a: DOID:225 ! syndrome
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:37 ! skin disease
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:9003615
name: Granuloma, Foreign-Body
def: "Histiocytic, inflammatory response to a foreign body. It consists of modified macrophages with multinucleated giant cells, in this case foreign-body giant cells (GIANT CELLS, FOREIGN-BODY), usually surrounded by lymphocytes." [MESH:D015745]
synonym: "Foreign-Body Granulomas" EXACT []
xref: MESH:D015745
xref: RDO:0006915
is_a: DOID:9002019 ! Granuloma
is_a: DOID:9002438 ! Foreign-Body Reaction

[Term]
id: DOID:9003617
name: Carrington Syndrome
alt_id: RDO:0000807
synonym: "Carrington's Disease" EXACT []
synonym: "Carrington's pulmonary eosinophilia" EXACT []
synonym: "Chronic eosinophilic pneumonia (CEP)" EXACT []
synonym: "Chronic idiopathic eosinophilic pneumonia" EXACT []
synonym: "Eosinophilic idiopathic chronic pneumopathy" EXACT []
xref: MESH:C535590
is_a: DOID:225 ! syndrome
is_a: DOID:9498 ! pulmonary eosinophilia

[Term]
id: DOID:9003618
name: HYPERTRIGLYCERIDEMIA 2
def: "This is a disease is characterized by moderately to severely elevated plasma triglyceride levels, increased total cholesterol levels, and low levels of high density lipoprotein (HDL) cholesterol." [MIM:619324]
synonym: "hypertriglyceridemia-2" EXACT []
synonym: "HYTG2" EXACT []
xref: MIM:619324
is_a: DOID:9006599 ! Hypertriglyceridemia
created_by: slaulede
creation_date: 2021-08-13T13:10:35Z

[Term]
id: DOID:9003619
name: Homocystinuria, Pyridoxine-Responsive
xref: MESH:C565513
xref: RDO:0014127
is_a: DOID:9263 ! homocystinuria

[Term]
id: DOID:9003621
name: Plexosarcoma
synonym: "Gastrointestinal autonomic nerve tumor" EXACT []
xref: MESH:C537517
is_a: DOID:1115 ! sarcoma
is_a: DOID:11465 ! autonomic nervous system disease
is_a: DOID:9253 ! gastrointestinal stromal tumor

[Term]
id: DOID:9003622
name: Progressive Familial Intrahepatic Cholestasis 10
def: "An autosomal recessive liver disorder characterized by the onset of symptoms in the first months or years of life. Caused by homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21." [MIM:619868]
synonym: "MYO5B-RELATED CONDITION" BROAD []
synonym: "PFIC10" EXACT []
xref: MIM:619868
is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis
created_by: mtutaj
creation_date: 2022-05-09T10:47:59Z

[Term]
id: DOID:9003623
name: Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
xref: MESH:C565949
xref: RDO:0014449
is_a: DOID:1891 ! optic nerve disease

[Term]
id: DOID:9003624
name: Refsum Disease with Increased Pipecolic Acidemia
xref: MESH:C535517
is_a: DOID:10582 ! Refsum disease
is_a: DOID:9005369 ! Hepatomegaly
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9003625
name: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES
def: "This disease is characterized by congenital nonprogressive external ophthalmoplegia and ptosis, with torticollis and scoliosis developing during childhood. In addition, patients exhibit hypoplastic or missing ribs with fusion anomalies" [MIM:618155]
synonym: "EORVA" EXACT []
synonym: "external ophthalmoplegia with rib and vertebral anomalies" EXACT []
xref: MIM:618155
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
created_by: slaulede
creation_date: 2021-04-13T14:24:42Z

[Term]
id: DOID:9003626
name: Paragangliomas 3
alt_id: MIM:605373
synonym: "extraadrenal pheochromocytoma and cervical paraganglioma" EXACT []
synonym: "familial extraadrenal pheochromocytoma" EXACT []
synonym: "familial glomus tumors 3" EXACT []
synonym: "hereditary extraadrenal paragangliomas" EXACT []
synonym: "PGL3" EXACT []
synonym: "pheochromocytoma/paraganglioma syndrome 3" EXACT []
synonym: "PPGL3" EXACT []
xref: MESH:C565335
is_a: DOID:0050773 ! paraganglioma
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:9003627
name: Chromosomal Instability with Tissue-Specific Radiosensitivity
alt_id: MIM:215510
xref: MESH:C565848
xref: MONDO:0008983
is_a: DOID:10907 ! microcephaly
is_a: DOID:14566 ! disease of cellular proliferation
is_a: DOID:9003882 ! Chromosomal Instability

[Term]
id: DOID:9003628
name: Silicosiderosis
synonym: "Hematite pneumoconiosis" EXACT []
synonym: "Iron miners lung" EXACT []
xref: MESH:C537337
is_a: DOID:10325 ! silicosis
is_a: DOID:9005172 ! Lung Neoplasms

[Term]
id: DOID:9003629
name: Jeffries-Lakhani Neurodevelopmental Syndrome
def: "An autosomal recessive disorder characterized by hypotonia, early-onset seizures, and global developmental delay apparent from infancy. Caused by homozygous or compound heterozygous mutations in the CRELD1 gene on chromosome 3p25." []
synonym: "JELANS" EXACT []
xref: MIM:620771
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: tutajm
creation_date: 2024-05-14T09:12:36Z

[Term]
id: DOID:9003630
name: Acute Disease
def: "Disease having a short and relatively severe course." [MESH:D000208]
synonym: "Acute Diseases" EXACT []
xref: MESH:D000208
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9003631
name: Diastolic Dysfunction
is_a: DOID:1287 ! cardiovascular system disease

[Term]
id: DOID:9003632
name: Meigs Syndrome
def: "The triad of benign FIBROMA or other ovarian tumors with ASCITES, and HYDROTHORAX due to large PLEURAL EFFUSIONS." [MESH:D008539]
synonym: "Meig's Syndrome" EXACT []
synonym: "Meig Syndrome" EXACT []
xref: MESH:D008539
is_a: DOID:225 ! syndrome
is_a: DOID:9002762 ! Ovarian Neoplasms

[Term]
id: DOID:9003633
name: Primary Ciliary Dyskinesia 50
def: "A primary ciliary dyskinesia characterized by chronic sinusitis and bronchitis as well as male infertility. Caused by homozygous or compound heterozygous mutation in the DNAH7 gene on chromosome 2q32." [MIM:620356]
synonym: "CILD50" EXACT []
xref: MIM:620356
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: mtutaj
creation_date: 2023-05-01T09:04:08Z

[Term]
id: DOID:9003634
name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES
def: "This disease is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia, delayed walking, poor or absent speech, and variable skeletal anomalies." [MIM:619880]
synonym: "NEDGS" EXACT []
xref: MIM:619880
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
is_a: DOID:9006257 ! Growth Disorders
created_by: slaulede
creation_date: 2022-06-30T12:05:32Z

[Term]
id: DOID:9003635
name: Isolated Pterygium Colli
alt_id: MIM:177990
xref: MESH:C566741
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9003636
name: Absence of Nasal Bones
alt_id: MIM:161480
synonym: "agenesis of nasal cartilages" EXACT []
xref: MESH:C562753
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9003637
name: Vestibulocochlear Nerve Injuries
def: "Traumatic injuries to the VESTIBULOCOCHLEAR NERVE." [MESH:D061285]
synonym: "Cranial Nerve VIII Injury" EXACT []
synonym: "Eighth Cranial Nerve Injuries" EXACT []
synonym: "Eighth Cranial Nerve Injury" EXACT []
synonym: "Eighth Nerve Trauma" EXACT []
synonym: "Eighth-Nerve Traumas" EXACT []
synonym: "Traumatic Eighth-Nerve Palsies" EXACT []
synonym: "Traumatic Eighth Nerve Palsy" EXACT []
synonym: "Traumatic Vestibulocochlear Neuropathies" EXACT []
synonym: "Traumatic Vestibulocochlear Neuropathy" EXACT []
synonym: "Vestibulocochlear Nerve Avulsion" EXACT []
synonym: "Vestibulocochlear Nerve Avulsions" EXACT []
synonym: "Vestibulocochlear Nerve Contusion" EXACT []
synonym: "Vestibulocochlear Nerve Contusions" EXACT []
synonym: "Vestibulocochlear Nerve Injury" EXACT []
synonym: "Vestibulocochlear Nerve Transection" EXACT []
synonym: "Vestibulocochlear Nerve Transections" EXACT []
synonym: "Vestibulocochlear Nerve Trauma" EXACT []
synonym: "Vestibulocochlear Nerve Traumas" EXACT []
xref: MESH:D061285
is_a: DOID:12657 ! vestibulocochlear nerve disease
is_a: DOID:9000598 ! Cranial Nerve Injuries

[Term]
id: DOID:9003638
name: diabetic maculopathy
def: "Diabetic maculopathy is a type of diabetic retinopathy and it is a major eye complication and visual impairment amongst people with diabetes. It is a condition that affects the macula, a highly sensitive region located centrally on the retina which is responsible for sharp, clear, and accurate color vision." [EFO:0010133]
synonym: "disorder of macula due to diabetes mellitus" EXACT []
synonym: "DM" EXACT []
synonym: "maculopathy due to diabetes mellitus" EXACT []
synonym: "maculopathy with diabetes mellitus" EXACT []
xref: EFO:0010133
is_a: DOID:4448 ! macular degeneration
is_a: DOID:8947 ! diabetic retinopathy
created_by: slaulede
creation_date: 2022-09-15T11:28:35Z

[Term]
id: DOID:9003639
name: Aorta-Pulmonary Artery Fistula
synonym: "Aorto-pulmonary artery fistula" EXACT []
synonym: "Aortopulmonary fistula" EXACT []
xref: MESH:C537782
is_a: DOID:9003403 ! Arterio-Arterial Fistula

[Term]
id: DOID:9003641
name: Expansile Bone Lesions
alt_id: MIM:603439
xref: MESH:C566375
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:9003642
name: Craniosynostosis, Adelaide Type
alt_id: MIM:600593
synonym: "CRSA" EXACT []
xref: MESH:C563471
xref: RDO:0012718
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9003643
name: Bone Marrow Failure Syndrome 6
synonym: "BMFS6" EXACT []
xref: MIM:618849
is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes
created_by: mtutaj
creation_date: 2020-04-23T10:26:03Z

[Term]
id: DOID:9003644
name: Fara Chlupackova Syndrome
synonym: "Familial oto-facio-cervical dysmorphia" EXACT []
xref: MESH:C537074
xref: RDO:0002843
is_a: DOID:225 ! syndrome
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:9003645
name: Myopathy with Giant Abnormal Mitochondria
alt_id: MIM:255140
xref: MESH:C564971
is_a: DOID:423 ! myopathy
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9003646
name: Arterial Thrombosis
def: "The formation or presence of a blood clot (THROMBUS) within an artery." []
synonym: "Artery Thrombis" EXACT []
xref: RDO:9000060
is_a: DOID:0060903 ! thrombosis

[Term]
id: DOID:9003647
name: Hypospadias 2, X-Linked
alt_id: MIM:300758
synonym: "Hysp2" EXACT []
xref: MESH:C567462
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10892 ! hypospadias

[Term]
id: DOID:9003648
name: N Acetyltransferase Deficiency
synonym: "N acetyltransferase 1 deficiency" EXACT []
synonym: "NAT1 deficiency" EXACT []
xref: MESH:C536107
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9003649
name: Hand-Arm Vibration Syndrome
def: "An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity." [MESH:D053421]
synonym: "Hand-Arm Vibration Syndromes" EXACT []
xref: EFO:1001337
xref: MESH:D053421
xref: RDO:0007618
is_a: DOID:178 ! vascular disease
is_a: DOID:225 ! syndrome
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9005463 ! Occupational Diseases

[Term]
id: DOID:9003650
name: Precocious Osteodysplasty of Danks, Mayne, and Kozlowski
alt_id: MIM:259270
xref: MESH:C564922
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9003652
name: Hydatidiform Mole, Recurrent, 1
def: "A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Recurrent hydatidiform mole-1 (HYDM1) is caused by homozygous or compound heterozygous mutation in the NLRP7 gene on chromosome 19q13. (OMIM)" []
synonym: "HYDM1" EXACT []
xref: MIM:231090
is_a: DOID:9005147 ! Hydatidiform Mole

[Term]
id: DOID:9003653
name: Microcephalic Osteodysplastic Primordial Dwarfism, Type III
alt_id: MIM:210730
synonym: "microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type" EXACT []
synonym: "microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type" EXACT []
synonym: "microcephalic osteodysplastic primordial dwarfism, type 3" EXACT []
synonym: "MOPD III" EXACT []
synonym: "osteodysplastic primordial dwarfism, type 3" EXACT []
synonym: "osteodysplastic primordial dwarfism, type III" EXACT []
xref: MESH:C537320
is_a: DOID:9002954 ! Microcephalic Osteodysplastic Primordial Dwarfism

[Term]
id: DOID:9003654
name: Testicular Germ Cell Tumor
alt_id: MIM:273300
synonym: "EMBRYONAL CELL CARCINOMA" NARROW []
synonym: "ENDODERMAL SINUS TUMOR" NARROW []
synonym: "germ cell tumor of testis" EXACT []
synonym: "MALE GERM CELL TUMOR" NARROW []
synonym: "MALE GERM CELL TUMOR, SOMATIC" NARROW []
synonym: "MGCT SEMINOMA" NARROW []
synonym: "NONSEMINOMATOUS GERM CELL TUMORS" NARROW []
synonym: "SPERMATOCYTIC SEMINOMA" NARROW []
synonym: "testicular teratoma" NARROW []
synonym: "TGCT" EXACT []
xref: EFO:1000566
xref: MESH:C563236
xref: ORDO:363504
is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms
is_a: DOID:9004207 ! Testicular Neoplasms

[Term]
id: DOID:9003655
name: Post-Traumatic Epilepsy
def: "Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)" [MESH:D004834]
synonym: "Concussive Convulsion" EXACT []
synonym: "Concussive Convulsions" EXACT []
synonym: "Early Post-Traumatic Seizure" EXACT []
synonym: "Early Post Traumatic Seizures" EXACT []
synonym: "Impact Seizure" EXACT []
synonym: "Impact Seizures" EXACT []
synonym: "Late Post-Traumatic Seizure" EXACT []
synonym: "Late Post Traumatic Seizures" EXACT []
synonym: "Post-Traumatic Epilepsies" EXACT []
synonym: "Post Traumatic Seizure Disorder" EXACT []
synonym: "Post-Traumatic Seizure Disorders" EXACT []
synonym: "Traumatic Epilepsies" EXACT []
synonym: "Traumatic Epilepsy" EXACT []
xref: MESH:D004834
is_a: DOID:1826 ! epilepsy
is_a: DOID:9000998 ! Brain Injuries

[Term]
id: DOID:9003656
name: Achromatopsia 1
synonym: "Rod monochromacy" EXACT []
synonym: "Rod monochromatism" EXACT []
is_a: DOID:13911 ! achromatopsia

[Term]
id: DOID:9003657
name: Perennial Allergic Rhinitis
def: "Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc." [MESH:D012221]
synonym: "nonseasonal allergic rhinitis" EXACT []
xref: EFO:1001417
xref: MESH:D012221
is_a: DOID:4481 ! allergic rhinitis

[Term]
id: DOID:9003658
name: Hydropneumothorax
def: "A collection of fluid and gas within the pleural cavity. (Dorland, 27th ed)" [MESH:D006872]
xref: MESH:D006872
xref: RDO:0005824
is_a: DOID:1532 ! pleural disease

[Term]
id: DOID:9003659
name: Chromosome Xq13 Duplication Syndrome
xref: MIM:301069
is_a: DOID:0060429 ! chromosomal duplication syndrome
created_by: mtutaj
creation_date: 2022-12-06T10:48:26Z

[Term]
id: DOID:9003660
name: Mitochondrial Dystonia
synonym: "maternally-inherited mitochondrial dystonia" EXACT []
synonym: "mitochondrial DNA-related dystonia" EXACT []
synonym: "mtDNA-related dystonia" EXACT []
xref: ORDO:254851
is_a: DOID:543 ! dystonia
created_by: rgd
creation_date: 2016-06-10T00:00:00Z

[Term]
id: DOID:9003662
name: Fryns Hofkens Fabry Syndrome
alt_id: MIM:191440
synonym: "ulna hypoplasia" EXACT []
synonym: "ulnar hypoplasia" EXACT []
synonym: "upper limb mesomelic dysplasia" EXACT []
xref: MESH:C538069
is_a: DOID:225 ! syndrome
is_a: DOID:9004402 ! Congenital Upper Extremity Deformities
is_a: DOID:9009006 ! Mesomelic Dysplasia

[Term]
id: DOID:9003663
name: Dohle Bodies and Leukemia
alt_id: MIM:223350
xref: MESH:C565617
is_a: DOID:9119 ! acute myeloid leukemia

[Term]
id: DOID:9003664
name: Salmonella Food Poisoning
def: "Poisoning caused by ingestion of food harboring species of SALMONELLA. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply." [MESH:D012478]
synonym: "Salmonella Food Poisonings" EXACT []
synonym: "Salmonella gastroenteritis" EXACT []
xref: EFO:0007475
xref: MESH:D012478
is_a: DOID:0060859 ! salmonellosis
is_a: DOID:9006436 ! Foodborne Diseases

[Term]
id: DOID:9003665
name: Glycogen Storage Disease XI
alt_id: MIM:612933
synonym: "GSD11" EXACT []
synonym: "GSD XI" EXACT []
synonym: "lactate dehydrogenase A deficiency" EXACT []
synonym: "lactate dehydrogenase deficiency type A" EXACT []
xref: MESH:C538133
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:9003667
name: Wiskott-Aldrich Syndrome, Autosomal Dominant Form
alt_id: MIM:600903
xref: MESH:C563431
is_a: DOID:9169 ! Wiskott-Aldrich syndrome

[Term]
id: DOID:9003668
name: Trichofolliculoma
synonym: "Congenital trichofolliculoma" EXACT []
synonym: "Recurrent trichofolliculoma" EXACT []
synonym: "Sebaceous trichofolliculoma" EXACT []
xref: MESH:C536553
xref: RDO:0002169
is_a: DOID:9003929 ! Basal Cell Neoplasms
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:9006379 ! Follicular Cyst

[Term]
id: DOID:9003669
name: Low Back Pain
def: "Acute or chronic pain in the lumbar or sacral regions, which may be associated with musculo-ligamentous SPRAINS AND STRAINS; INTERVERTEBRAL DISK DISPLACEMENT; and other conditions." [MESH:D017116]
synonym: "Low Back Ache" EXACT []
synonym: "Low Backache" EXACT []
synonym: "Low Back Aches" EXACT []
synonym: "Low Backaches" EXACT []
synonym: "Low Back Pain, Posterior Compartment" EXACT []
synonym: "Low Back Pains" EXACT []
synonym: "Lower Back Pain" EXACT []
synonym: "Lower Back Pains" EXACT []
synonym: "Lumbago" EXACT []
synonym: "Mechanical Low Back Pain" EXACT []
synonym: "Postural Low Back Pain" EXACT []
synonym: "Recurrent Low Back Pain" EXACT []
xref: MESH:D017116
is_a: DOID:9007923 ! Back Pain

[Term]
id: DOID:9003670
name: acute synovitis
def: "This is a connective tissue disease of sudden onset and short duration that results in inflammation of the synovial lining of a joint, causing pain and swelling." [https://www.merriam-webster.com, NCI:C97140]
xref: EFO:0008998
is_a: DOID:2703 ! synovitis
created_by: slaulede
creation_date: 2023-02-03T16:38:01Z

[Term]
id: DOID:9003671
name: Hypoventilation
def: "A reduction in the amount of air entering the pulmonary alveoli." [MESH:D007040]
synonym: "Hypoventilations" EXACT []
xref: MESH:D007040
is_a: DOID:11162 ! respiratory failure
is_a: DOID:9000575 ! Respiratory Signs and Symptoms

[Term]
id: DOID:9003672
name: Keratoconus 6
synonym: "KTCN6" EXACT []
xref: MIM:614623
is_a: DOID:10126 ! keratoconus

[Term]
id: DOID:9003673
name: Sener Syndrome
alt_id: MIM:606156
synonym: "frontonasal dysplasia and dilated Virchow-Robin spaces" EXACT []
xref: MESH:C537579
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9007583 ! Cysts
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9003674
name: Chest Pain
def: "Pressure, burning, or numbness in the chest." [MESH:D002637]
synonym: "Chest Pains" EXACT []
synonym: "Precordial Catch" EXACT []
synonym: "Precordial Catch Syndrome" EXACT []
synonym: "Texidor's Twinge" EXACT []
synonym: "Texidor Twinge" EXACT []
xref: MESH:D002637
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9003675
name: Retinitis Pigmentosa 78
synonym: "RP78" EXACT []
xref: MIM:617433
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:9003676
name: Brain Hypoxia-Ischemia
def: "A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions." [MESH:D020925]
synonym: "Anoxic-Ischemic Encephalopathies" EXACT []
synonym: "Anoxic Ischemic Encephalopathy" EXACT []
synonym: "Brain Anoxia Ischemia" EXACT []
synonym: "Brain Anoxia-Ischemias" EXACT []
synonym: "Brain Hypoxia-Ischemias" EXACT []
synonym: "Brain Ischemia-Anoxias" EXACT []
synonym: "Brain Ischemia-Hypoxias" EXACT []
synonym: "Cerebral Anoxia Ischemia" EXACT []
synonym: "Cerebral Anoxia-Ischemias" EXACT []
synonym: "Cerebral Hypoxia Ischemia" EXACT []
synonym: "Cerebral Hypoxia-Ischemias" EXACT []
synonym: "Cerebral Ischemia-Anoxias" EXACT []
synonym: "Cerebral Ischemia-Hypoxias" EXACT []
synonym: "Hypoxic-Ischemic Encephalopathies" EXACT []
synonym: "Hypoxic Ischemic Encephalopathy" EXACT []
xref: EFO:1000846
xref: MESH:D020925
is_a: DOID:2316 ! brain ischemia
is_a: DOID:9004756 ! Brain Hypoxia

[Term]
id: DOID:9003677
name: Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
alt_id: MIM:607131
synonym: "AGBK" EXACT []
synonym: "Al-Gazali-Bakalinova Syndrome" EXACT []
synonym: "MMEDF" EXACT []
xref: MESH:C564621
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9001487 ! Facies
is_a: DOID:9003816 ! Macrocephaly

[Term]
id: DOID:9003678
name: Pyruvate Dehydrogenase E3-Binding Protein Deficiency
alt_id: MIM:245349
synonym: "Dihydrolipoyl dehydrogenase" EXACT []
synonym: "Lactic Acidemia due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex" EXACT []
synonym: "PDHXD" EXACT []
xref: MESH:C565447
is_a: DOID:3649 ! pyruvate decarboxylase deficiency
is_a: DOID:3650 ! lactic acidosis

[Term]
id: DOID:9003679
name: Keratitis Sicca
xref: MESH:C531719
is_a: DOID:12895 ! keratoconjunctivitis sicca

[Term]
id: DOID:9003680
name: Plasmodium Falciparum Blood Infection Level
synonym: "PFBI" EXACT []
synonym: "PLASMODIUM FALCIPARUM PARASITEMIA" EXACT []
xref: MIM:248310
xref: RDO:0008355
is_a: DOID:12365 ! malaria

[Term]
id: DOID:9003681
name: Primary Ciliary Dyskinesia 52
def: "An autosomal recessive disorder characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects. Caused by homozygous or compound heterozygous mutation in the DAW1 gene on chromosome 2q36." [MIM:620570]
synonym: "CILD52" EXACT []
synonym: "primary ciliary dyskinesia 52, with or without situs invertus" EXACT []
xref: MIM:620570
xref: MONDO:0957922
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: tutajm
creation_date: 2023-11-10T14:39:45Z

[Term]
id: DOID:9003683
name: Accessory Pancreas
xref: MESH:C536003
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9003684
name: Brachyolmia Type 1, Hobaek Type
alt_id: MIM:271530
synonym: "BCYM1A" EXACT []
synonym: "Brachyolmia, recessive Hobaek type" EXACT []
synonym: "Brachyolmia, recessive type of Hobaek" EXACT []
synonym: "Spondylodysplasia with pure brachyolmia" EXACT []
xref: MESH:C537099
xref: ORDO:93301
is_a: DOID:0050690 ! brachyolmia
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9003685
name: Mismatch Repair Cancer Syndrome 4
synonym: "MMRCS4" EXACT []
synonym: "PMS2-RELATED CONDITION" BROAD []
xref: MIM:619101
is_a: DOID:0112182 ! mismatch repair cancer syndrome
created_by: mtutaj
creation_date: 2020-11-30T11:34:43Z

[Term]
id: DOID:9003686
name: Singh Chhaparwal Dhanda Syndrome
xref: MESH:C537341
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:225 ! syndrome
is_a: DOID:540 ! strabismus
is_a: DOID:83 ! cataract
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9650 ! pathologic nystagmus

[Term]
id: DOID:9003687
name: Multisystem Autoimmune Disease with Facial Dysmorphism
synonym: "ADMFD" EXACT []
synonym: "syndromic multisystem autoimmune disease" EXACT []
xref: MIM:613385
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003688
name: Toxoplasma Chorioretinitis
def: "Inflammation of the choroid in which the sensory retina becomes edematous and opaque. The precipitating condition of this ophtalmologic manifestation is toxoplasmosis." []
synonym: "toxoplasmic retinochoroiditis" EXACT []
synonym: "TR" EXACT []
is_a: DOID:8886 ! chorioretinitis

[Term]
id: DOID:9003689
name: HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES
def: "An autosomal recessive neurodevelopmental syndrome characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties, including hypoventilation, and sleep apnea." [MIM:618493]
synonym: "HIDEA" EXACT []
xref: MIM:618493
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2019-09-12T15:00:28Z

[Term]
id: DOID:9003690
name: Carcinoma, Lewis Lung
def: "A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." [MESH:D018827]
xref: EFO:1001770
xref: MESH:D018827
is_a: DOID:305 ! carcinoma
is_a: DOID:9002170 ! Experimental Neoplasms

[Term]
id: DOID:9003691
name: Rubivirus Infections
def: "Virus diseases caused by the RUBIVIRUS genus, of the family TOGAVIRIDAE." [MESH:D018355]
synonym: "Rubivirus Infection" EXACT []
xref: MESH:D018355
xref: RDO:0006511
is_a: DOID:9002987 ! Togaviridae Infections

[Term]
id: DOID:9003692
name: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
def: "This disease is a severe autosomal recessive disorder characterized by hypotonia and dystonic posturing apparent from early infancy. Affected individuals show global developmental delay with inability to walk or speak and have profoundly impaired intellectual development, often with behavioral abnormalities." [MIM:619922]
synonym: "NEDDS" EXACT []
xref: MIM:619922
is_a: DOID:1826 ! epilepsy
is_a: DOID:543 ! dystonia
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2022-12-13T12:25:42Z

[Term]
id: DOID:9003693
name: Multiple Exostoses Type II
def: "Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones. Multiple hereditary exostoses type II (EXT2) is caused by heterozygous mutation in the gene encoding exostosin-2 (EXT2) on chromosome 11p11. (OMIM)" []
synonym: "EXT2" EXACT []
synonym: "hereditary multiple exostoses 2" EXACT []
synonym: "multiple exostoses type 2" EXACT []
xref: MIM:133701
is_a: DOID:206 ! hereditary multiple exostoses

[Term]
id: DOID:9003694
name: Cecal Neoplasms
alt_id: RDO:0004892
def: "Tumors or cancer of the CECUM." [MESH:D002430]
synonym: "cecal neoplasm" EXACT []
xref: EFO:0009255
xref: MESH:D002430
is_a: DOID:1518 ! cecal disease
is_a: DOID:9002245 ! Intestinal Neoplasms

[Term]
id: DOID:9003695
name: Hypercalciuria, Absorptive, 1
alt_id: MIM:607258
synonym: "HCA1" EXACT []
xref: MESH:C564600
is_a: DOID:9001738 ! Hypercalciuria

[Term]
id: DOID:9003696
name: Spastic Paraplegia, Epilepsy, Mental Retardation
alt_id: MIM:182610
synonym: "Spastic Paraplegia, Epilepsy, And Mental Retardation" EXACT []
xref: MESH:C536869
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:9003697
name: Congenital disorder of deglycosylation
synonym: "Congenital disorders of deglycosylation" EXACT []
xref: MIM:PS615273
xref: MONDO:0031376
is_a: DOID:655 ! inherited metabolic disorder
created_by: tutajm
creation_date: 2024-08-13T13:08:53Z

[Term]
id: DOID:9003698
name: ALAGILLE SYNDROME 1
def: "This disease is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype." [MIM:118450]
synonym: "Alagille syndrome due to a JAG1 point mutation" EXACT []
synonym: "ALGS1" EXACT []
xref: MIM:118450
xref: MONDO:0016862
xref: ORDO:261619
is_a: DOID:9245 ! Alagille syndrome
created_by: slaulederkind
creation_date: 2024-02-08T14:31:22Z

[Term]
id: DOID:9003699
name: Colloid Cysts of Third Ventricle
alt_id: MIM:609363
synonym: "Neuroepithelial cysts of third ventricle" EXACT []
xref: MESH:C535966
is_a: DOID:9003316 ! Colloid Cysts

[Term]
id: DOID:9003700
name: Tracheobronchomalacia
def: "A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA and the BRONCHI. This results in a floppy non-rigid airway making patency difficult to maintain." [MESH:D055089]
synonym: "Chondromalacia of Trachea and Bronchi" EXACT []
synonym: "Tracheobronchomalacias" EXACT []
xref: GARD:7791
xref: MESH:D055089
is_a: DOID:1176 ! bronchial disease
is_a: DOID:1222 ! cartilage disease
is_a: DOID:3225 ! tracheal disease
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9003701
name: Intellectual Developmental Disorder with Autism and Dysmorphic Facies
def: "An autosomal recessive neurodevelopmental disorder characterized by moderate to severely impaired cognitive development associated with behavioral abnormalities, including autism spectrum disorder. Caused by homozygous mutation in the PDZD8 on chromosome 10q25." [MIM:620021]
synonym: "IDDADF" EXACT []
xref: MIM:620021
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12849 ! autistic disorder
is_a: DOID:9001487 ! Facies
created_by: mtutaj
creation_date: 2022-11-14T14:22:32Z

[Term]
id: DOID:9003702
name: Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate
alt_id: MIM:601420
synonym: "Microcephaly, facial clefting, and preaxial polydactyly" EXACT []
xref: MESH:C537547
is_a: DOID:0050562 ! West syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:674 ! cleft palate
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9296 ! cleft lip
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:9003703
name: Coxa Valga
def: "Hip deformity in which the angle between the femoral neck and its shaft is increased. It may be congenital, acquired, or developmental." [MESH:D060906]
synonym: "Acquired Coxa Valga" EXACT []
synonym: "acquired coxa valgas" EXACT []
synonym: "Acquired Coxa Valgus" EXACT []
synonym: "Congenital Coxa Valga" EXACT []
synonym: "Congenital Coxa Valgas" EXACT []
synonym: "Congenital Coxa Valgus" EXACT []
synonym: "Coxa Valgas" EXACT []
synonym: "Coxa Valgus" EXACT []
synonym: "Developmental Coxa Valga" EXACT []
synonym: "Developmental Coxa Valgas" EXACT []
synonym: "developmental coxa valgus" EXACT []
xref: MESH:D060906
is_a: DOID:0080001 ! bone disease
is_a: DOID:9000308 ! Bone Retroversion

[Term]
id: DOID:9003704
name: Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies
def: "A disease characterized by mildly impaired global development, speech delay with nasal speech, and dysmorphic facial features, including high forehead, midface hypoplasia, micrognathia or high-arched palate, hypo/hypertelorism, upslanting palpebral fissures, and thin upper lip." [MIM:618608]
synonym: "IDNADFS" EXACT []
xref: EFO:0010630
xref: MIM:618608
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
created_by: slaulede
creation_date: 2019-11-12T13:42:22Z

[Term]
id: DOID:9003705
name: Sick Sinus Syndrome 1, Autosomal Recessive
alt_id: MIM:608567
synonym: "congenital absence of sinus rhythm" EXACT []
synonym: "FAMILIAL SICK SINUS SYNDROME" EXACT []
synonym: "sick sinus syndrome 1" EXACT []
synonym: "Sick Sinus Syndrome, Congenital" EXACT []
synonym: "Sinus Bradycardia Syndrome, Familial" EXACT []
synonym: "Sinus Node Disease, Familial, Autosomal Recessive" EXACT []
synonym: "SSS1" EXACT []
xref: MESH:C563907
is_a: DOID:13884 ! sick sinus syndrome

[Term]
id: DOID:9003706
name: Zuska's Disease
synonym: "Lactation and squamous metaplasia of lactiferous ducts" EXACT []
synonym: "Lactiferous fistula" EXACT []
synonym: "Zuska disease" EXACT []
xref: MESH:C536730
is_a: DOID:3463 ! breast disease
is_a: DOID:9000325 ! Abscess
is_a: DOID:9007343 ! Fistula

[Term]
id: DOID:9003708
name: Hereditary Koilonychia
alt_id: RDO:0003063
synonym: "congenital koilonychia" EXACT []
synonym: "familial koilonychia" EXACT []
xref: MESH:C537260
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9003709
name: Mercury Poisoning
def: "Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of MERCURY or MERCURY COMPOUNDS." [MESH:D008630]
synonym: "Mercury Poisonings" EXACT []
xref: EFO:1001810
xref: MESH:D008630
xref: RDO:0006113
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:9003710
name: Autosomal Dominant Intellectual Developmental Disorder 62
synonym: "autosomal dominant mental retardation 62" EXACT []
synonym: "intellectual developmental disorder 62" EXACT []
synonym: "MRD62" EXACT []
xref: MIM:618793
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2020-02-28T11:10:41Z

[Term]
id: DOID:9003711
name: Steatorrhea
alt_id: DOID:10602
def: "A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS." []
synonym: "Fatty stool" EXACT []
xref: MESH:D045602
xref: NCI:C86917
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9002984 ! Malabsorption Syndromes
created_by: mtutaj
creation_date: 2019-11-21T07:31:12Z

[Term]
id: DOID:9003712
name: MERRF/MELAS Overlap Syndrome
def: "A mitochondrial encephalomyopathy which features symptoms of either MERFF or MELAS Syndrome or both." []
is_a: DOID:310 ! MERRF Syndrome
is_a: DOID:3687 ! MELAS syndrome

[Term]
id: DOID:9003713
name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis
synonym: "ALSFTD" EXACT []
synonym: "CORTICOBASAL SYNDROME" EXACT []
synonym: "frontotemporal dementia-amyotrophic lateral sclerosis" EXACT []
synonym: "frontotemporal dementia and/or motor neuron disease" EXACT []
synonym: "frontotemporal dementia with motor neuron disease" EXACT []
synonym: "FTDALS" EXACT []
synonym: "FTDMND" EXACT []
xref: MIM:PS105550
is_a: DOID:332 ! amyotrophic lateral sclerosis
is_a: DOID:9255 ! frontotemporal dementia
created_by: mtutaj
creation_date: 2019-03-20T00:00:00Z

[Term]
id: DOID:9003714
name: Implant Capsular Contracture
def: "The shrinkage of the foreign body encapsulation scar tissue that forms around artificial implants imbedded in body tissues." [MESH:D057910]
xref: MESH:D057910
xref: RDO:0007806
is_a: DOID:9002438 ! Foreign-Body Reaction
is_a: DOID:9004294 ! Prosthesis Failure

[Term]
id: DOID:9003715
name: Leukocyte Nuclear Appendages, Hereditary Prevalence of
alt_id: MIM:151500
xref: MESH:C563626
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9003716
name: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
alt_id: MIM:619248
synonym: "VPED" EXACT []
xref: MESH:C565179
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:5679 ! retinal disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9003717
name: nonischemic cardiomyopathy
def: "This is a form of cardiomyopathy that is are not related to known coronary artery disease." [EFO:0009881]
synonym: "NICM" EXACT []
synonym: "non-ischemic cardiomyopathy" EXACT []
xref: EFO:0009881
is_a: DOID:0050700 ! cardiomyopathy
created_by: slaulede
creation_date: 2023-01-13T10:40:48Z

[Term]
id: DOID:9003718
name: Marchiafava-Bignami Disease
def: "A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well." [MESH:D054319]
synonym: "Marchiafava Bignami Syndrome" EXACT []
xref: EFO:1001809
xref: MESH:D054319
xref: RDO:0007669
is_a: DOID:3213 ! demyelinating disease
is_a: DOID:9005627 ! Metabolic Brain Diseases

[Term]
id: DOID:9003719
name: Progressive Vitiligo with Mental Retardation and Urethral Duplication
alt_id: MIM:277465
xref: MESH:C564739
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12306 ! vitiligo
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9003720
name: Myopia 14
alt_id: MIM:610320
synonym: "MYP14" EXACT []
xref: MESH:C565202
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9003721
name: Wis Heavy-Chain Disease Protein, Human
synonym: "gamma 3 heavy-chain disease protein WIS, human" EXACT []
synonym: "myeloma protein Wis, human" EXACT []
synonym: "protein WIS, human" EXACT []
xref: MESH:C483997
xref: RDO:0000006
is_a: DOID:0060125 ! heavy chain disease

[Term]
id: DOID:9003722
name: Bronchial Fistula
def: "An abnormal passage or communication between a bronchus and another part of the body." [MESH:D001983]
synonym: "Bronchial Fistulas" EXACT []
xref: MESH:D001983
is_a: DOID:1176 ! bronchial disease
is_a: DOID:9001952 ! Respiratory Tract Fistula

[Term]
id: DOID:9003723
name: Vesicoureteral Reflux 8
synonym: "TNXB-RELATED CONDITION" BROAD []
synonym: "VUR8" EXACT []
xref: MIM:615963
is_a: DOID:9620 ! vesicoureteral reflux
created_by: rgd
creation_date: 2017-04-19T00:00:00Z

[Term]
id: DOID:9003724
name: Granulovacuolar Lobular Myopathy with Electrical Myotonia
alt_id: MIM:254950
xref: MESH:C564974
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9008993 ! Myotonia

[Term]
id: DOID:9003725
name: Familial Polythelia
alt_id: MIM:163700
synonym: "Accessory Nipples" EXACT []
synonym: "Polymastia" EXACT []
synonym: "Supernumerary Nipples" EXACT []
xref: MESH:C562557
is_a: DOID:3463 ! breast disease

[Term]
id: DOID:9003726
name: Corneal Hypesthesia, Familial
alt_id: MIM:122450
synonym: "Trigeminal anesthesia, familial" EXACT []
xref: MESH:C536440
is_a: DOID:10124 ! corneal disease
is_a: DOID:9004369 ! Hypesthesia

[Term]
id: DOID:9003728
name: Shashi-Pena Syndrome
def: "A neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. (OMIM)" [MIM:617190]
synonym: "SHAPNS" EXACT []
xref: MIM:617190
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: rgd
creation_date: 2017-04-04T00:00:00Z

[Term]
id: DOID:9003729
name: Pruritic Urticarial Papules Plaques of Pregnancy
alt_id: MIM:178995
synonym: "Polymorphic eruption of pregnancy" EXACT []
synonym: "Pruritic Urticarial Papules And Plaques of Pregnancy" EXACT []
synonym: "Pruritic urticarial papules and plaques of pregnancy, familial" EXACT []
xref: MESH:C535817
is_a: DOID:9004702 ! Pregnancy Complications
is_a: DOID:9006202 ! Pruritus

[Term]
id: DOID:9003730
name: Chemical Burns
def: "Burns caused by contact with or exposure to CAUSTICS or strong ACIDS." [MESH:D002057]
synonym: "caustic injury" EXACT []
synonym: "Chemical Burn" EXACT []
xref: EFO:0009503
xref: MESH:D002057
is_a: DOID:9007730 ! Burns

[Term]
id: DOID:9003731
name: Martinez Monasterio Pinheiro Syndrome
synonym: "Cleft lip-palate-oligodontia-syndactyly-hair alterations" EXACT []
xref: MESH:C536027
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome
is_a: DOID:421 ! hair disease
is_a: DOID:674 ! cleft palate
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9003732
name: Congenital Moderate Neural Deafness
alt_id: MIM:221500
xref: MESH:C565640
is_a: DOID:0060140 ! cortical deafness

[Term]
id: DOID:9003733
name: Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency
alt_id: MIM:201910
synonym: "21 alpha hydroxylase deficiency" EXACT []
synonym: "21 hydroxylase deficiency" EXACT []
synonym: "adrenal gland hyperplasia III" EXACT []
synonym: "adrenal hyperplasia III" EXACT []
synonym: "Attenuated congenital adrenal hyperplasia" EXACT []
synonym: "CAH1 HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY" NARROW []
synonym: "CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING" NARROW []
synonym: "CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY" EXACT []
synonym: "CONGENITAL ADRENAL HYPERPLASIA 1" NARROW []
synonym: "cortisol-producing adenoma" NARROW []
synonym: "CYP21A2-RELATED CONDITION" EXACT []
synonym: "CYP21 deficiency" EXACT []
synonym: "Late-onset congenital adrenal hyperplasia" EXACT []
synonym: "LOCAH" EXACT []
synonym: "NCCAH" EXACT []
synonym: "non classic congenital adrenal hyperplasia" EXACT []
xref: MESH:C535979
xref: NCI:C129302
is_a: DOID:0050811 ! congenital adrenal hyperplasia

[Term]
id: DOID:9003734
name: Vesicoureteral Reflux 2
alt_id: MIM:610878
synonym: "ROBO2-RELATED CONDITION" EXACT []
synonym: "VUR2" EXACT []
xref: MESH:C567053
is_a: DOID:9620 ! vesicoureteral reflux

[Term]
id: DOID:9003735
name: Splenic Hypoplasia
alt_id: MIM:271400
synonym: "Asplenia" EXACT []
synonym: "Familial Asplenia" EXACT []
synonym: "ICAS" EXACT []
synonym: "Isolated Congenital Asplenia" EXACT []
synonym: "Isolated Congenital Hyposplenia" EXACT []
xref: MESH:C563028
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9003736
name: Central Nervous System Viral Diseases
def: "Viral infections of the brain, spinal cord, meninges, or perimeningeal spaces." [MESH:D020805]
synonym: "Central Nervous System Viral Infections" EXACT []
synonym: "Viral CNS Infection" EXACT []
synonym: "Viral CNS Infections" EXACT []
xref: MESH:D020805
is_a: DOID:9000025 ! Central Nervous System Infections
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9003737
name: Ascorbic Acid Deficiency
def: "A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" [MESH:D001206]
synonym: "Ascorbic Acid Deficiencies" EXACT []
synonym: "Vitamin C Deficiencies" EXACT []
synonym: "Vitamin C Deficiency" EXACT []
xref: EFO:1000822
xref: MESH:D001206
is_a: DOID:9004644 ! Avitaminosis

[Term]
id: DOID:9003738
name: Familial Vocal Cord Dysfunction
alt_id: MIM:150260
alt_id: MIM:308850
synonym: "Gerhardt syndrome" EXACT []
synonym: "laryngeal abductor paralysis" EXACT []
synonym: "Plott syndrome" EXACT []
xref: MESH:C536354
is_a: DOID:9000586 ! Vocal Cord Paralysis

[Term]
id: DOID:9003739
name: Niemann-Pick Disease Type D
alt_id: MIM:257220
synonym: "Niemann Pick's Disease Type D" EXACT []
synonym: "Niemann Pick Disease, Nova Scotian" EXACT []
synonym: "Niemann-Pick Disease, Nova Scotian Type" EXACT []
synonym: "Nova Scotia Niemann Pick Disease (Type D)" EXACT []
synonym: "NPC1-RELATED CONDITION" BROAD []
xref: MESH:C564941
is_a: DOID:14504 ! Niemann-Pick disease

[Term]
id: DOID:9003740
name: Nerve Injuries
def: "Dysfunction of a nerve causally related to a traumatic injury." []
synonym: "nerve injury" EXACT []
is_a: DOID:863 ! nervous system disease
is_a: DOID:9001600 ! Wounds and Injuries
created_by: slaulederkind
creation_date: 2010-08-20T00:00:00Z

[Term]
id: DOID:9003741
name: Autosomal Dominant Nonsyndromic Deafness 83
def: "Characterized by the onset of progressive sensorineural hearing loss at an average age of 24 years. Caused by heterozygous mutation in the MAP1B gene on chromosome 5q13. One such family has been reported." [MIM:619808]
synonym: "DEAFNESS, AUTOSOMAL DOMINANT 83" EXACT []
synonym: "DFNA83" EXACT []
synonym: "MAP1B-RELATED CONDITION" BROAD []
xref: MIM:619808
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2022-04-11T09:45:19Z

[Term]
id: DOID:9003742
name: Prostate Cancer, Hereditary, 14
alt_id: MIM:611958
synonym: "HPC14" EXACT []
xref: MESH:C567448
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9003743
name: Septic Abortions
def: "Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge." [MESH:D000031]
synonym: "septic abortion" EXACT []
xref: EFO:1001177
xref: MESH:D000031
is_a: DOID:9003281 ! Spontaneous Abortions
is_a: DOID:9008808 ! Pregnancy Complications, Infectious

[Term]
id: DOID:9003744
name: Respiratory Tract Neoplasms
def: "New abnormal growth of tissue in the RESPIRATORY SYSTEM." [MESH:D012142]
synonym: "respiratory system neoplasm" EXACT []
synonym: "Respiratory Tract Neoplasm" EXACT []
xref: EFO:0003853
xref: MESH:D012142
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:9007920 ! Thoracic Neoplasms

[Term]
id: DOID:9003745
name: Enteropathy-Associated T-Cell Lymphoma
def: "A primary peripheral T-cell lymphoma in the gastrointestinal tract, most often in the jejunum, associated with a history of CELIAC DISEASE or other gastrointestinal diseases." [MESH:D058527]
synonym: "Enteropathy-Associated T-Cell Lymphomas" EXACT []
synonym: "Small Intestinal Enteropathy-Associated T-Cell Lymphoma" NARROW []
xref: EFO:1000535
xref: MESH:D058527
is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma
is_a: DOID:13996 ! small intestine lymphoma

[Term]
id: DOID:9003747
name: Monophalangy of Great Toe
alt_id: MIM:158100
xref: MESH:C563570
is_a: DOID:9000067 ! Congenital Foot Deformities

[Term]
id: DOID:9003748
name: Thumb Deformity
alt_id: MIM:188100
synonym: "thumb absent or hypoplastic" EXACT []
synonym: "thumb hypoplastic" EXACT []
xref: MESH:C536903
is_a: DOID:9008871 ! Hand Deformities

[Term]
id: DOID:9003749
name: Sick Sinus Syndrome 2, Autosomal Dominant
alt_id: MIM:163800
synonym: "atrial fibrillation with bradyarrhythmia" EXACT []
synonym: "sick sinus syndrome 2" EXACT []
synonym: "SICK SINUS SYNDROME 2 WITH OR WITHOUT CARDIAC NONCOMPACTION AND/OR ASCENDING AORTA DILATION" EXACT []
synonym: "Sinus Bradycardia Syndrome, Familial, Autosomal Dominant" EXACT []
synonym: "Sinus Node Disease, Familial, Autosomal Dominant" EXACT []
synonym: "SSS2" EXACT []
xref: MESH:C563513
is_a: DOID:13884 ! sick sinus syndrome

[Term]
id: DOID:9003750
name: Tetrasomy 15q26
synonym: "LEVY-SHANSKE SYNDROME" EXACT []
xref: MIM:614846
is_a: DOID:9004060 ! Tetrasomy
created_by: mtutaj
creation_date: 2022-12-16T12:58:23Z

[Term]
id: DOID:9003751
name: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM
def: "This disease is characterized by delayed motor development, ataxia, severe progressive scoliosis, moderate to severe intellectual disability, and delayed sexual development." [MIM:619761]
synonym: "CDIDHH" EXACT []
synonym: "PRDM13-RELATED CONDITION" BROAD []
xref: MIM:619761
is_a: DOID:0060249 ! scoliosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2022-03-10T14:30:28Z

[Term]
id: DOID:9003752
name: Persistent Truncus Arteriosus
def: "A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and PULMONARY ARTERY. It is characterized by a single arterial trunk that forms the outlet for both HEART VENTRICLES and gives rise to the systemic, pulmonary, and coronary arteries. It is always accompanied by a ventricular septal defect." [MESH:D014339]
xref: MESH:D014339
xref: NCI:C98880
is_a: DOID:9003362 ! Aortopulmonary Septal Defect

[Term]
id: DOID:9003753
name: Ureteral Neoplasms
def: "Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." [MESH:D014516]
synonym: "Neoplasms of Ureter" EXACT []
synonym: "Ureteral Neoplasm" EXACT []
synonym: "Ureter Neoplasm" EXACT []
synonym: "Ureter Neoplasms" EXACT []
xref: EFO:0003844
xref: MESH:D014516
is_a: DOID:1426 ! ureteral disease
is_a: DOID:9004643 ! Urologic Neoplasms

[Term]
id: DOID:9003754
name: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES
def: "This disease is an autosomal recessive disorder characterized by severe muscle hypotonia apparent from birth, as well as developmental delay. Laboratory studies show increased serum creatine kinase and muscle biopsy shows nonspecific dystrophic features." [MIM:620166]
synonym: "MYOS" EXACT []
xref: MIM:620166
is_a: DOID:0050557 ! congenital muscular dystrophy
created_by: slaulede
creation_date: 2023-02-28T17:18:40Z

[Term]
id: DOID:9003755
name: Diffuse Neurofibrillary Tangles with Calcification
def: "A form of presenile DEMENTIA characterized by cortical dementia, NEUROFIBRILLARY TANGLES without SENILE PLAQUES, Fahr's type CALCINOSIS, and ATROPHY in frontotemporal or TEMPORAL LOBE." [MESH:D055956]
synonym: "Kosaka Shibayama Disease" EXACT []
xref: MESH:D055956
is_a: DOID:1307 ! dementia
is_a: DOID:680 ! tauopathy

[Term]
id: DOID:9003757
name: Achondrogenesis, Type 4
xref: MESH:C536019
is_a: DOID:4480 ! achondroplasia

[Term]
id: DOID:9003758
name: Banti's Syndrome
synonym: "Banti's disease" EXACT []
synonym: "Idiopathic congestive splenomegaly" EXACT []
synonym: "Idiopathic portal hypertension" EXACT []
xref: GARD:5888
xref: MONDO:0021969
is_a: DOID:10762 ! portal hypertension
is_a: DOID:12450 ! pancytopenia
is_a: DOID:225 ! syndrome
is_a: DOID:5082 ! liver cirrhosis
is_a: DOID:9002720 ! Splenomegaly

[Term]
id: DOID:9003759
name: Cerebral Hemorrhage, Traumatic
def: "Bleeding into one or both CEREBRAL HEMISPHERES due to TRAUMA. Hemorrhage may involve any part of the CEREBRAL CORTEX and the BASAL GANGLIA. Depending on the severity of bleeding, clinical features may include SEIZURES; APHASIA; VISION DISORDERS; MOVEMENT DISORDERS; PARALYSIS; and COMA." [MESH:D020202]
synonym: "Brain Hemorrhage, Cerebral, Traumatic" EXACT []
synonym: "Traumatic Cerebral Hematoma" EXACT []
synonym: "Traumatic Cerebral Hematomas" EXACT []
synonym: "Traumatic Cerebral Hemorrhages" EXACT []
synonym: "Traumatic Cerebral Intraparenchymal Hematoma" EXACT []
synonym: "Traumatic Cerebral Intraparenchymal Hemorrhage" EXACT []
synonym: "Traumatic Cerebral Parenchymal Hemorrhage" EXACT []
synonym: "Traumatic Intracerebral Hemorrhage" EXACT []
synonym: "Traumatic Intracerebral Hemorrhages" EXACT []
xref: MESH:D020202
xref: RDO:0007342
is_a: DOID:9002676 ! Cerebral Hemorrhage
is_a: DOID:9004208 ! Traumatic Brain Hemorrhage

[Term]
id: DOID:9003760
name: Myalgia
def: "Painful sensation in the muscles." [MESH:D063806]
synonym: "Muscle Pain" EXACT []
synonym: "Muscle Pains" EXACT []
synonym: "Muscle Soreness" EXACT []
synonym: "Muscle Tenderness" EXACT []
xref: MESH:D063806
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9005228 ! Musculoskeletal Pain

[Term]
id: DOID:9003761
name: Defect in Hydroxylation of Diphenylhydantoin
xref: MESH:C565044
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9003762
name: IgG2 Deficiency
def: "A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN G2." []
synonym: "Igg2 deficiency, selective" EXACT []
synonym: "immunoglobulin IgG2 deficiency" EXACT []
xref: RDO:9001177
is_a: DOID:14176 ! selective IgG deficiency disease
created_by: rgd
creation_date: 2016-05-19T00:00:00Z

[Term]
id: DOID:9003763
name: Renal Hypodysplasia/Aplasia 1
def: "This disease falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT)." []
synonym: "HRA" BROAD []
synonym: "RENAL ADYSPLASIA" BROAD []
synonym: "RENAL AGENESIS AND HYPODYSPLASIA" BROAD []
synonym: "RENAL APLASIA" BROAD []
synonym: "RHDA1" EXACT []
xref: MIM:191830
is_a: DOID:14766 ! renal agenesis

[Term]
id: DOID:9003764
name: Krasnow Qazi Syndrome
synonym: "Krasnow Qazi Yermakov syndrome" EXACT []
xref: MESH:C537616
is_a: DOID:12930 ! dilated cardiomyopathy
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract

[Term]
id: DOID:9003765
name: Complex and Mixed Neoplasms
def: "Neoplasms composed of more than one type of neoplastic tissue." [MESH:D018193]
xref: MESH:D018193
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:9003766
name: 46, XY Disorders of Sex Development
def: "Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical." [MESH:D058490]
synonym: "46,XY DSD" EXACT []
synonym: "Disorder of Sex Development, 46,XY" EXACT []
synonym: "DSD INCOMPLETE VIRILIZATION" NARROW []
synonym: "Male Pseudohermaphroditism" EXACT []
synonym: "Male Pseudohermaphroditisms" EXACT []
xref: MESH:D058490
is_a: DOID:1923 ! disorder of sexual development

[Term]
id: DOID:9003767
name: Viral Sexually Transmitted Diseases
def: "Viral diseases which are transmitted or propagated by sexual conduct." [MESH:D015229]
synonym: "Viral Sexually Transmitted Disease" EXACT []
synonym: "Viral Venereal Disease" EXACT []
synonym: "Viral Venereal Diseases" EXACT []
xref: MESH:D015229
xref: RDO:0005252
is_a: DOID:9004302 ! Sexually Transmitted Diseases

[Term]
id: DOID:9003768
name: Mirror Movements 4
synonym: "MRMV4" EXACT []
xref: MIM:618264
is_a: DOID:0111153 ! congenital mirror movement disorder
is_a: DOID:9008675 ! Dyskinesias
created_by: mtutaj
creation_date: 2019-02-12T00:00:00Z

[Term]
id: DOID:9003769
name: Patterson Stevenson Syndrome
alt_id: MIM:183700
alt_id: MIM:190605
synonym: "Patterson Stevenson Fontaine syndrome" EXACT []
synonym: "polydactyly of triphalangeal thumb" EXACT []
synonym: "Split-foot deformity with ectrodactyly and mandibulofacial dysostosis" EXACT []
synonym: "Split-Foot Deformity With Mandibulofacial Dysostosis" EXACT []
synonym: "TPT and PSD syndrome" EXACT []
synonym: "TPTPS" EXACT []
synonym: "Triphalangeal Thumb-Polydactyly Syndrome" EXACT []
synonym: "Triphalangeal thumb polysyndactyly syndrome" EXACT []
synonym: "triphalangeal thumb with polysyndactyly" EXACT []
xref: MESH:C536311
is_a: DOID:225 ! syndrome
is_a: DOID:9007798 ! Preaxial Polydactyly II
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:9003770
name: Retrocaval Ureter
def: "A rare congenital abnormality resulting in the URETER passing dorsal to and being obstructed by the INFERIOR VENA CAVA." [MESH:D064749]
synonym: "Circumcaval Ureter" EXACT []
xref: MESH:D064749
xref: RDO:0015839
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:9003771
name: Acromesomelic Dysplasia, Campailla-Martinelli Type
synonym: "mesomelic dwarfism Campailla-Martinelli type" EXACT []
xref: GARD:505
xref: MESH:C535659
is_a: DOID:0080049 ! acromesomelic dysplasia

[Term]
id: DOID:9003772
name: Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence
alt_id: MIM:609612
synonym: "Congenital Fibrosis Syndrome with Synergistic Divergence" EXACT []
synonym: "External Ophthalmoplegia with Synergistic Divergence" EXACT []
xref: MESH:C566508
xref: ORDO:45358
is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles

[Term]
id: DOID:9003773
name: Upper Extremity Deep Vein Thrombosis
def: "DEEP VEIN THROMBOSIS of an upper extremity vein (e.g., AXILLARY VEIN; SUBCLAVIAN VEIN; and JUGULAR VEINS). It is associated with mechanical factors (Upper Extremity Deep Vein Thrombosis, Primary) secondary to other anatomic factors (Upper Extremity Deep Vein Thrombosis, Secondary). Symptoms may include sudden onset of pain, warmth, redness, blueness, and swelling in the arm." [MESH:D056824]
synonym: "Central Venous Catheter Thrombosis" EXACT []
synonym: "Effort Induced Upper Extremity Deep Vein Thrombosis" EXACT []
synonym: "Effort Related Upper Extremity Deep Vein Thrombosis" EXACT []
synonym: "Exercise Induced Upper Extremity Deep Vein Thrombosis" EXACT []
synonym: "Idiopathic Upper Extremity Deep Vein Thrombosis" EXACT []
synonym: "Paget Schroetter Syndrome" EXACT []
synonym: "Upper Extremity Deep Vein Thrombosis, Primary" EXACT []
synonym: "Upper Extremity Deep Vein Thrombosis, Secondary" EXACT []
xref: MESH:D056824
xref: RDO:0007760
is_a: DOID:9003871 ! Venous Thrombosis

[Term]
id: DOID:9003774
name: Familial Visceral Neuropathy 2, Autosomal Recessive
def: "This disease is characterized by intestinal dysmotility due to aganglionosis or hypoganglionosis of the colon. Patients also exhibit peripheral axonal neuropathy, ptosis, and sensorineural hearing loss." [MIM:619465]
synonym: "VSCN2" EXACT []
xref: MIM:619465
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9000473 ! Familial Visceral Neuropathy
created_by: slaulede
creation_date: 2021-11-02T11:42:02Z

[Term]
id: DOID:9003775
name: Chromosome 11p Deletion Syndrome
alt_id: DOID:9001825
synonym: "11p Deletion Syndrome" EXACT []
synonym: "Chromosome 11, Deletion 11p" EXACT []
synonym: "Deletion 11p" EXACT []
synonym: "Monosomy 11p" EXACT []
xref: MESH:C538293
xref: MESH:C541598
is_a: DOID:0060388 ! chromosomal deletion syndrome

[Term]
id: DOID:9003777
name: Immunodeficiency due to Defect in MAPBP-Interacting Protein
alt_id: MIM:610798
xref: MESH:C563663
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9003778
name: Eosinophilic Pustular Folliculitis
synonym: "Ofuji's disease" EXACT []
synonym: "Ofuji disease" EXACT []
xref: MESH:C535953
xref: RDO:0001338
is_a: DOID:2731 ! vesiculobullous skin disease
is_a: DOID:4409 ! folliculitis
is_a: DOID:9001371 ! Eosinophilia

[Term]
id: DOID:9003779
name: Vasculitis of the Skin
def: "Inflammation of the blood vessels in the skin." []
synonym: "Cutaneous vasculitis" EXACT []
xref: RDO:9001235
is_a: DOID:865 ! vasculitis
created_by: rgd
creation_date: 2016-08-18T00:00:00Z

[Term]
id: DOID:9003780
name: Split-Hand/Foot Malformation with Long Bone Deficiency 2
alt_id: MIM:610685
alt_id: RDO:0013910
synonym: "SHFLD2" EXACT []
xref: MESH:C565199
is_a: DOID:0090020 ! split hand-foot malformation
is_a: DOID:9000545 ! Ectromelia

[Term]
id: DOID:9003781
name: Ossification of Posterior Longitudinal Ligament
def: "A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. It is often associated with anterior ankylosing hyperostosis." [MESH:D017887]
synonym: "Calcification of Posterior Longitudinal Ligament" EXACT []
synonym: "Posterior Longitudinal Ligament Calcification" EXACT []
synonym: "Posterior Longitudinal Ligament Ossification" EXACT []
xref: MESH:D017887
xref: NCI:C84975
is_a: DOID:0060564 ! spinal disease
is_a: DOID:9003295 ! Heterotopic Ossification

[Term]
id: DOID:9003782
name: Transient Tachypnea of the Newborn
def: "Abnormal increase in RESPIRATORY RATE in the newborn. It is self-limiting and attributed to the delayed fetal lung fluid clearance often in CAESAREAN SECTION delivery." [MESH:D059245]
synonym: "Newborn Transient Tachypnea" EXACT []
synonym: "Newborn Transient Tachypneas" EXACT []
synonym: "Transient Tachypnea of Newborn" EXACT []
xref: MESH:D059245
xref: RDO:0009999
is_a: DOID:12716 ! newborn respiratory distress syndrome
is_a: DOID:9008811 ! Tachypnea

[Term]
id: DOID:9003783
name: Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
alt_id: MIM:246570
synonym: "Fatco syndrome" EXACT []
xref: MESH:C565436
is_a: DOID:0050463 ! campomelic dysplasia
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9003784
name: Uncombable Hair Syndrome 3
synonym: "UHS3" EXACT []
xref: MIM:617252
is_a: DOID:9005997 ! Uncombable Hair Syndrome
created_by: rgd
creation_date: 2017-04-19T00:00:00Z

[Term]
id: DOID:9003785
name: Fibromuscular Dysplasia
alt_id: DOID:9003839
alt_id: MIM:135580
def: "An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity." [MESH:D005352]
synonym: "arterial fibromuscular dysplasia" EXACT []
synonym: "fibromuscular dysplasia of arteries" EXACT []
synonym: "fibromuscular dysplasias" EXACT []
xref: EFO:1000938
xref: MESH:D005352
xref: NCI:C84714
is_a: DOID:9006474 ! Arterial Occlusive Diseases

[Term]
id: DOID:9003786
name: Equine Infectious Anemia
def: "Viral disease of horses caused by the equine infectious anemia virus (EIAV; INFECTIOUS ANEMIA VIRUS, EQUINE). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions." [MESH:D004859]
synonym: "Equine Infectious Anemias" EXACT []
synonym: "Swamp Fever" EXACT []
synonym: "Swamp Fevers" EXACT []
xref: EFO:0007263
xref: MESH:D004859
xref: RDO:0005516
is_a: DOID:9001187 ! Horse Diseases
is_a: DOID:9004448 ! Slow Virus Diseases
is_a: DOID:9005091 ! Lentivirus Infections

[Term]
id: DOID:9003787
name: Lipoid Congenital Adrenal Hyperplasia
alt_id: MIM:201710
alt_id: RDO:0002781
def: "This disease is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy." []
synonym: "Adrenal hyperplasia 1" EXACT []
synonym: "congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism" EXACT []
synonym: "LCAH" EXACT []
synonym: "LIPOID HYPERPLASIA, CONGENITAL, OF ADRENAL CORTEX WITH MALE PSEUDOHERMAPHRODITISM" EXACT []
synonym: "STAR-RELATED CONDITION" EXACT []
xref: MESH:C537027
is_a: DOID:0050811 ! congenital adrenal hyperplasia
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development

[Term]
id: DOID:9003788
name: Immune Deficiency, Familial Variable
alt_id: MIM:146830
xref: MESH:C564136
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9003789
name: Odontochondrodysplasia
xref: MIM:PS184260
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
is_a: DOID:4154 ! dentinogenesis imperfecta
created_by: mtutaj
creation_date: 2022-10-11T08:18:18Z

[Term]
id: DOID:9003790
name: Posttransfusion Purpura
alt_id: MIM:173470
synonym: "PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM" RELATED []
synonym: "PTP" EXACT []
xref: MESH:C562868
xref: RDO:0012402
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9005876 ! Thrombocytopenic Purpura

[Term]
id: DOID:9003791
name: Chromosome 3, Monosomy 3p
synonym: "Chromosome 3, deletion 3p" EXACT []
synonym: "Deletion 3p" EXACT []
synonym: "Monosomy 3p" EXACT []
xref: MESH:C536804
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9003793
name: Dupuytren Contracture
alt_id: MIM:126900
def: "A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50." [MESH:D004387]
synonym: "Dupuytren's Contracture" EXACT []
synonym: "Dupuytren's Disease" EXACT []
synonym: "Dupuytren Disease" EXACT []
synonym: "Dupuytrens Contracture" EXACT []
synonym: "Dupuytrens Disease" EXACT []
synonym: "Palmar Fibromatosis" EXACT []
synonym: "PLANTAR FIBROMAS" NARROW []
synonym: "PLANTAR FIBROMATOSIS, FAMILIAL" NARROW []
xref: EFO:0004229
xref: EFO:1000438
xref: MESH:D004387
is_a: DOID:0050871 ! fibroma
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:9003794
name: T Cell Immunodeficiency Primary
synonym: "Primary T-Cell Immunodeficiency Disorders" EXACT []
xref: MESH:C536780
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9003795
name: Isolated Osteopoikilosis
alt_id: RDO:0012729
xref: MESH:C563484
is_a: DOID:11991 ! Osteopoikilosis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9003796
name: T-Cell OKT4 Deficiency
alt_id: MIM:613949
synonym: "OKT4D" EXACT []
synonym: "OKT4 epitope deficiency" EXACT []
synonym: "T4 epitope deficiency" EXACT []
xref: MESH:C566080
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9003797
name: Glaucoma 1, Open Angle, I
alt_id: MIM:609745
synonym: "GLC1I" EXACT []
xref: MESH:C565724
is_a: DOID:1070 ! primary open angle glaucoma

[Term]
id: DOID:9003798
name: Paine Syndrome
alt_id: MIM:311400
synonym: "Microcephaly with spastic diplegia" EXACT []
synonym: "Seemanova Syndrome I" EXACT []
xref: MESH:C538101
is_a: DOID:10907 ! microcephaly
is_a: DOID:10965 ! spastic diplegia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9003799
name: Cataract Microcornea Syndrome
xref: MESH:C538287
xref: RDO:0004249
is_a: DOID:10124 ! corneal disease
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract

[Term]
id: DOID:9003800
name: Yersinia Infections
def: "Infections with bacteria of the genus YERSINIA." [MESH:D015009]
synonym: "Yersinia Infection" EXACT []
xref: EFO:1001245
xref: MESH:D015009
is_a: DOID:9003491 ! Enterobacteriaceae Infections

[Term]
id: DOID:9003801
name: Elliptocytosis 3
alt_id: MIM:617948
alt_id: OMIA:001318
synonym: "EL3" EXACT []
synonym: "fatal or near-fatal perinatal hemolytic anemia" RELATED []
synonym: "spectrin Providence" RELATED []
synonym: "Spectrin rouen" RELATED []
synonym: "SPTB-RELATED CONDITION" BROAD []
xref: MESH:C566678
is_a: DOID:2373 ! hereditary elliptocytosis

[Term]
id: DOID:9003802
name: Dursun Syndrome
alt_id: RDO:0015746
synonym: "Pulmonary Arterial Hypertension, Leukopenia, And Atrial Septal Defect" EXACT []
xref: MESH:C567804
is_a: DOID:0112136 ! severe congenital neutropenia 4
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:225 ! syndrome
is_a: DOID:6432 ! pulmonary hypertension

[Term]
id: DOID:9003803
name: Retinitis Pigmentosa, Late-Onset Dominant
xref: MESH:C567369
xref: RDO:0015457
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:9003805
name: Catalepsy
def: "A condition characterized by inactivity, decreased responsiveness to stimuli, and a tendency to maintain an immobile posture. The limbs tend to remain in whatever position they are placed (waxy flexibility). Catalepsy may be associated with PSYCHOTIC DISORDERS (e.g., SCHIZOPHRENIA, CATATONIC), nervous system drug toxicity, and other conditions." [MESH:D002375]
synonym: "Anochlesia" EXACT []
synonym: "Anochlesias" EXACT []
synonym: "Catalepsies" EXACT []
synonym: "Cerea Flexibilitas" EXACT []
synonym: "Waxy Flexibilities" EXACT []
synonym: "Waxy Flexibility" EXACT []
xref: EFO:0009845
xref: MESH:D002375
xref: RDO:0005146
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9003806
name: PHACE Association
alt_id: MIM:606519
synonym: "PHACES association" EXACT []
xref: MESH:C537892
is_a: DOID:9001734 ! Neurocutaneous Syndromes
is_a: DOID:9002883 ! Aortic Aneurysm, Giant Congenital
is_a: DOID:9007908 ! Aortic Coarctation
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9003807
name: Bifid Nose
alt_id: MIM:109740
alt_id: MIM:210400
synonym: "Bifid Nose, Autosomal Dominant" EXACT []
synonym: "Bifid Nose, Autosomal Recessive" EXACT []
synonym: "median cleft of nose" EXACT []
synonym: "Median fissure of nose" EXACT []
xref: MESH:C535441
is_a: DOID:2825 ! nose disease

[Term]
id: DOID:9003808
name: Progressive Myoclonus Epilepsy 12
def: "An autosomal recessive neurologic disorder characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Caused by homozygous mutation in the SLC7A6OS gene on chromosome 16q22. (OMIM)" []
synonym: "EPM12" EXACT []
synonym: "progressive myoclonic epilepsy 12" EXACT []
xref: MIM:619191
is_a: DOID:891 ! progressive myoclonus epilepsy
created_by: mtutaj
creation_date: 2021-03-01T14:15:20Z

[Term]
id: DOID:9003809
name: Isolated Mineralocorticoid Deficiency
alt_id: RDO:0015638
xref: MESH:C567596
is_a: DOID:0050811 ! congenital adrenal hyperplasia
is_a: DOID:1924 ! hypogonadism

[Term]
id: DOID:9003810
name: Chromosome 8, Monosomy 8q
synonym: "Deletion 8q" EXACT []
synonym: "Monosomy 8q" EXACT []
xref: MESH:C537828
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9003812
name: Ventricular Extrasystoles Perodactyly Robin Sequence
alt_id: MIM:192445
synonym: "VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE" EXACT []
xref: MESH:C536537
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9003814
name: Neurologic Manifestations
def: "Clinical signs and symptoms caused by nervous system injury or dysfunction." [MESH:D009461]
synonym: "Focal Neurologic Deficit" EXACT []
synonym: "Focal Neurologic Deficits" EXACT []
synonym: "Neurological Manifestation" EXACT []
synonym: "Neurological Manifestations" EXACT []
synonym: "Neurologic Deficit" EXACT []
synonym: "Neurologic Deficits" EXACT []
synonym: "Neurologic Dysfunction" EXACT []
synonym: "Neurologic Dysfunctions" EXACT []
synonym: "Neurologic Finding" EXACT []
synonym: "Neurologic Findings" EXACT []
synonym: "Neurologic Manifestation" EXACT []
synonym: "Neurologic Sign" EXACT []
synonym: "Neurologic Signs" EXACT []
synonym: "Neurologic Signs and Symptoms" EXACT []
synonym: "Neurologic Symptom" EXACT []
synonym: "Neurologic Symptoms" EXACT []
xref: MESH:D009461
is_a: DOID:863 ! nervous system disease
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9003815
name: Rosselli-Gulienetti Syndrome
alt_id: MIM:225000
xref: MESH:C563117
is_a: DOID:11193 ! syndactyly
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9003816
name: Macrocephaly
alt_id: MIM:155350
def: "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME)." [MESH:D058627]
synonym: "Macrocephalies" EXACT []
synonym: "MACROCEPHALY SYNDROME, AUTOSOMAL RECESSIVE" NARROW []
synonym: "Megacephalies" EXACT []
synonym: "Megacephaly" EXACT []
synonym: "Megalencephalies" EXACT []
synonym: "Megalencephaly" EXACT []
synonym: "megalencephaly, autosomal dominant" NARROW []
synonym: "megalencephaly, autosomal recessive" NARROW []
synonym: "MEGALENCEPHALY-POLYDACTYLY SYNDROME" NARROW []
synonym: "Megalocephalies" EXACT []
synonym: "Megalocephaly" EXACT []
xref: MESH:D058627
is_a: DOID:9005611 ! Malformations of Cortical Development, Group I
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003817
name: Sudden Hearing Loss
alt_id: RDO:0005310
def: "Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning." [MESH:D003639]
synonym: "idiopathic sudden sensorineural hearing loss" RELATED []
synonym: "SSHL" EXACT []
synonym: "SSNHL" EXACT []
synonym: "Sudden Deafness" EXACT []
synonym: "sudden sensorineural hearing loss" EXACT []
xref: MESH:D003639
is_a: DOID:10003 ! sensorineural hearing loss

[Term]
id: DOID:9003818
name: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
def: "A disease characterized by global developmental delay with impaired intellectual development and speech delay, visual defects, and structural brain abnormalities." [MIM:618547]
synonym: "NEDVIBA" EXACT []
xref: MIM:618547
is_a: DOID:5614 ! eye disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2019-10-10T17:57:39Z

[Term]
id: DOID:9003819
name: Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis
def: "Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." [MESH:D056648]
synonym: "ANCA-Associated Vasculitide" EXACT []
synonym: "ANCA Associated Vasculitides" EXACT []
synonym: "ANCA Associated Vasculitis" EXACT []
synonym: "anti-neutrophil antibody associated vasculitis" EXACT []
synonym: "Pauci-Immune Vasculitides" EXACT []
synonym: "Pauci Immune Vasculitis" EXACT []
xref: EFO:0004826
xref: MESH:D056648
xref: MONDO:0015492
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9003199 ! Systemic Vasculitis

[Term]
id: DOID:9003820
name: Infantile Sialic Storage Disease
synonym: "infantile form sialuria" EXACT []
synonym: "infantile form sialurias" EXACT []
synonym: "infantile sialic acid storage disease" EXACT []
synonym: "infantile sialic acid storage disorder" EXACT []
synonym: "infantile sialic acid storage disorder (ISSD)" EXACT []
synonym: "ISSD" EXACT []
synonym: "N-Acetylneuraminic acid storage disease" EXACT []
synonym: "Nana storage disease" EXACT []
xref: MESH:C535525
xref: MIM:269920
is_a: DOID:3659 ! sialuria

[Term]
id: DOID:9003821
name: Hennekam Lymphangiectasia-Lymphedema Syndrome 1
synonym: "HKLLS1" EXACT []
xref: MIM:235510
is_a: DOID:0060366 ! Hennekam syndrome
created_by: mtutaj
creation_date: 2019-03-19T14:30:02Z

[Term]
id: DOID:9003822
name: Ehlers-Danlos syndrome classic-like 3
def: "This disease is an autosomal dominant connective tissue disorder characterized by joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time, and age-related aortic dilatation and rupture." [OMIM:620865]
synonym: "EDSCLL3" EXACT []
synonym: "EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 3" EXACT []
synonym: "Ehlers-Danlos syndrome classic-like type 3" EXACT []
xref: OMIM:620865
is_a: DOID:13359 ! Ehlers-Danlos syndrome
created_by: slaulederkind
creation_date: 2024-07-09T12:00:22Z

[Term]
id: DOID:9003823
name: ENCEPHALOPATHY, PORPHYRIA-RELATED
def: "This disease is an autosomal recessive disorder characterized by the onset of progressive neurologic abnormalities in early infancy. Features include global developmental delay, poor walking or inability to walk, impaired intellectual development, hypotonia, ataxia, dysarthria, spasticity, ocular abnormalities, and peripheral neuropathy. Laboratory studies show increased plasma and urinary levels of the putatively neurotoxic porphyrin precursors delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and uroporphyrin resulting from deficient HMBS enzymatic activity." [MIM:620704]
synonym: "ENCEP" EXACT []
synonym: "porphyria-related encephalopathy" EXACT []
xref: MIM:620704
is_a: DOID:13268 ! porphyria
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
created_by: slaulederkind
creation_date: 2024-05-13T17:22:07Z

[Term]
id: DOID:9003824
name: Infectious Encephalitis
def: "Brain inflammation caused by an infectious agent.." [MESH:D000069544]
synonym: "Encephalitis Infection" EXACT []
synonym: "Encephalitis Infections" EXACT []
xref: MESH:D000069544
is_a: DOID:9000025 ! Central Nervous System Infections
is_a: DOID:9588 ! encephalitis

[Term]
id: DOID:9003825
name: Succinic Acidemia
alt_id: MIM:600335
xref: MESH:C563952
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9003827
name: Tumor Lysis Syndrome
def: "A syndrome resulting from cytotoxic therapy, occurring generally in aggressive, rapidly proliferating lymphoproliferative disorders. It is characterized by combinations of hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia." [MESH:D015275]
synonym: "Tumor Lysis Syndromes" EXACT []
synonym: "Tumour Lysis Syndrome" EXACT []
synonym: "Tumour Lysis Syndromes" EXACT []
xref: EFO:1001479
xref: MESH:D015275
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9003828
name: Klebsiella Infections
def: "Infections with bacteria of the genus KLEBSIELLA." [MESH:D007710]
synonym: "Klebsiella Infection" EXACT []
xref: EFO:1001353
xref: MESH:D007710
xref: RDO:0005939
is_a: DOID:9003491 ! Enterobacteriaceae Infections

[Term]
id: DOID:9003829
name: Familial Acne Inversa 3
synonym: "ACNINV3" EXACT []
xref: MIM:613737
xref: MONDO:0013398
is_a: DOID:9008895 ! Familial Hidradenitis Suppurativa
created_by: mtutaj
creation_date: 2021-07-16T16:07:26Z

[Term]
id: DOID:9003830
name: Primary Aldosteronism, Seizures, and Neurologic Abnormalities
alt_id: RDO:9000958
synonym: "CACNA1D-RELATED CONDITION" BROAD []
synonym: "CACNA1D-RELATED DISORDER" BROAD []
synonym: "PASNA" EXACT []
xref: MIM:615474
xref: NCI:C188151
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:446 ! primary hyperaldosteronism

[Term]
id: DOID:9003831
name: Mal de Debarquement
synonym: "Mal de debarquement syndrome" EXACT []
xref: MESH:C537840
is_a: DOID:2951 ! motion sickness

[Term]
id: DOID:9003832
name: Dyssegmental Dysplasia with Glaucoma
alt_id: MIM:601561
xref: MESH:C563290
is_a: DOID:1686 ! glaucoma
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9003833
name: Keratolytic Winter Erythema
alt_id: MIM:148370
synonym: "Erythrokeratolysis hiemalis ichthyosis" EXACT []
synonym: "KWE" EXACT []
synonym: "Oudtshoorn skin" EXACT []
synonym: "OUDTSHOORN SKIN DISEASE" EXACT []
xref: MESH:C536155
xref: RDO:0001617
is_a: DOID:161 ! keratosis
is_a: DOID:9006976 ! Erythema
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9003834
name: early onset hypertension
def: "This disease is an artery disease characterized by chronic elevated blood pressure in the arteries with early onset relative to normal range for a given population." [DOID:10763, EFO:0004772]
synonym: "early onset HTN" EXACT []
synonym: "early onset hyperpiesia" EXACT []
synonym: "early onset hyperpiesis" EXACT []
synonym: "early onset vascular hypertensive disorder" EXACT []
xref: EFO:0004772
is_a: DOID:10763 ! hypertension
created_by: slaulede
creation_date: 2023-01-10T17:48:35Z

[Term]
id: DOID:9003835
name: Craniosynostosis 6
def: "A primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. (OMIM)" []
synonym: "CRS6" EXACT []
xref: MIM:616602
is_a: DOID:2340 ! craniosynostosis
created_by: rgd
creation_date: 2017-03-01T00:00:00Z

[Term]
id: DOID:9003836
name: Amyotrophic Lateral Sclerosis with Polyglucosan Bodies
alt_id: MIM:205250
xref: MESH:C565955
is_a: DOID:332 ! amyotrophic lateral sclerosis
is_a: DOID:891 ! progressive myoclonus epilepsy

[Term]
id: DOID:9003837
name: Au-Kline Syndrome
alt_id: DOID:9002401
def: "AUKS is caused by heterozygous mutation in the HNRNPK gene on chromosome 9q21. (OMIM)" []
synonym: "Au-Kline-Okamoto syndrome" EXACT []
synonym: "AUKS" EXACT []
synonym: "Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation" EXACT []
synonym: "KABUKI-LIKE SYNDROME" EXACT []
synonym: "Okamoto Syndrome" EXACT []
xref: MESH:C565736
xref: MIM:616580
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11111 ! hydronephrosis
is_a: DOID:674 ! cleft palate
is_a: DOID:9001487 ! Facies
is_a: DOID:9005603 ! Muscle Hypotonia

[Term]
id: DOID:9003838
name: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2
def: "This pigment variation is a phenotype predominantly characterized by red hair and fair skin." [MIM:266300]
synonym: "BLOND HAIR/FAIR SKIN" EXACT []
synonym: "HAIR COLOR 2" EXACT []
synonym: "HCL2" EXACT []
synonym: "RED HAIR COLOR" EXACT []
synonym: "RHA" EXACT []
synonym: "RHC" EXACT []
synonym: "SHEP2" EXACT []
xref: MIM:266300
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9001946 ! Skin Abnormalities
created_by: slaulede
creation_date: 2021-04-15T12:52:49Z

[Term]
id: DOID:9003840
name: Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations
synonym: "FADD deficiency" EXACT []
synonym: "IMD90" EXACT []
synonym: "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction" EXACT []
synonym: "INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS" EXACT []
xref: MIM:613759
is_a: DOID:409 ! liver disease
is_a: DOID:9002682 ! Cardiovascular Abnormalities
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9003841
name: Acquired Protein C Deficiency
xref: MESH:C567164
xref: RDO:0015312
is_a: DOID:3756 ! protein C deficiency

[Term]
id: DOID:9003842
name: Foot Dermatoses
def: "Skin diseases of the foot, general or unspecified." [MESH:D005533]
synonym: "Foot Dermatosis" EXACT []
xref: MESH:D005533
is_a: DOID:9007310 ! Foot Diseases

[Term]
id: DOID:9003843
name: Chromosome 1, Monosomy 1q4
synonym: "Deletion 1q4" EXACT []
synonym: "Monosomy 1q4" EXACT []
xref: MESH:C537672
xref: RDO:0003552
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9003844
name: Battered Child Syndrome
def: "A clinical condition resulting from repeated physical and psychological injuries inflicted on a child by the parents or caregivers." [MESH:D001497]
synonym: "Battered Child Syndromes" EXACT []
synonym: "Nonaccidental Trauma in Children" EXACT []
xref: MESH:D001497
is_a: DOID:225 ! syndrome
is_a: DOID:6088 ! acute stress disorder
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9003845
name: Stress Fractures
def: "Fractures due to the strain caused by repetitive exercise. They are thought to arise from a combination of MUSCLE FATIGUE and bone failure, and occur in situations where BONE REMODELING predominates over repair. The most common sites of stress fractures are the METATARSUS; FIBULA; TIBIA; and FEMORAL NECK." [MESH:D015775]
synonym: "Fatigue Fracture" EXACT []
synonym: "Fatigue Fractures" EXACT []
synonym: "Insufficiency Fracture" EXACT []
synonym: "Insufficiency Fractures" EXACT []
synonym: "March Fracture" EXACT []
synonym: "March Fractures" EXACT []
synonym: "Micro Fracture" EXACT []
synonym: "Microfracture" EXACT []
synonym: "Micro Fractures" EXACT []
synonym: "Microfractures" EXACT []
synonym: "Stress Fracture" EXACT []
xref: MESH:D015775
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9003846
name: Sinoatrial Block
def: "Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the SINOATRIAL NODE to the HEART ATRIA. It is characterized by a delayed in heartbeat and pauses between P waves in an ELECTROCARDIOGRAM." [MESH:D012848]
synonym: "Sinoatrial Blocks" EXACT []
synonym: "Sinoatrial Exit Block" EXACT []
synonym: "Sinoatrial Exit Blocks" EXACT []
xref: MESH:D012848
is_a: DOID:9003163 ! Heart Block

[Term]
id: DOID:9003847
name: Mannosidase Deficiency Diseases
def: "Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme." [MESH:D044904]
synonym: "Mannosidase Deficiency Disease" EXACT []
synonym: "Mannosidase Deficiency Syndrome" EXACT []
synonym: "Mannosidase Deficiency Syndromes" EXACT []
synonym: "Mannosidoses" EXACT []
synonym: "Mannosidosis" EXACT []
xref: MESH:D044904
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:3211 ! lysosomal storage disease

[Term]
id: DOID:9003848
name: Lentiginosis, Centrofacial Neurodysraphic
alt_id: MIM:151000
synonym: "Lentiginosis, Touraine Type" EXACT []
xref: MESH:C563630
is_a: DOID:9000319 ! Lentigo

[Term]
id: DOID:9003849
name: Autosomal Recessive Intellectual Developmental Disorder 80
def: "A disease characterized by global developmental delay with mildly to moderately impaired intellectual development and behavioral abnormalities. Caused by homozygous or compound heterozygous mutation in the CASP2 gene on chromosome 7q35." [MIM:620653]
synonym: "intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly" EXACT []
synonym: "MRT80" EXACT []
xref: MIM:620653
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: tutajm
creation_date: 2023-12-19T15:49:53Z

[Term]
id: DOID:9003850
name: Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness
alt_id: MIM:184000
xref: MESH:C566659
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9003851
name: Prekallikrein Deficiency
alt_id: MIM:612423
alt_id: OMIA:000819
def: "This disease is a rare asymptomatic clotting defect characterized by prolongation of activated partial thromboplastin time" [MIM:612423]
synonym: "Fletcher Factor Deficiency" EXACT []
synonym: "INHERITED PREKALLIKREIN DEFICIENCY" EXACT []
synonym: "KLKB1-RELATED CONDITION" EXACT []
synonym: "PKKD" EXACT []
synonym: "PKK Deficiency" EXACT []
xref: MESH:C562725
is_a: DOID:1247 ! blood coagulation disease

[Term]
id: DOID:9003852
name: periprosthetic osteolysis
def: "This is a progressive resorption of bone caused by a host inflammatory response to particulate debris produced by friction between articulating surfaces in an artificial joint." [EFO:0009761]
synonym: "EFO:0009761" EXACT []
synonym: "particular wear debris osteolysis" EXACT []
is_a: DOID:9006081 ! Osteolysis
created_by: slaulede
creation_date: 2023-01-30T10:59:27Z

[Term]
id: DOID:9003853
name: Giant Cell Tumors
def: "Tumors of bone tissue or synovial or other soft tissue characterized by the presence of giant cells. The most common are giant cell tumor of tendon sheath and GIANT CELL TUMOR OF BONE." [MESH:D005870]
synonym: "giant cell neoplasm" EXACT []
synonym: "giant cell tumor" EXACT []
synonym: "Giant Cell Tumor of Soft Tissue" NARROW []
synonym: "tumor of the giant cell" EXACT []
xref: EFO:1000281
xref: MESH:D005870
xref: NCI:C3055
xref: NCI:C7069
is_a: DOID:9003944 ! Connective Tissue Neoplasms
created_by: mtutaj
creation_date: 2020-04-21T08:18:21Z

[Term]
id: DOID:9003854
name: Cleft Lip with or without Cleft Palate, Nonsyndromic, 7
xref: MESH:C565603
xref: RDO:0014194
is_a: DOID:674 ! cleft palate
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9003855
name: Vesicoureteral Reflux 5
synonym: "VUR5" EXACT []
xref: MIM:614318
is_a: DOID:9620 ! vesicoureteral reflux

[Term]
id: DOID:9003856
name: Kashani Strom Utley Syndrome
synonym: "Hypoplastic pulmonary arteries and aorta with obstructive uropathy" EXACT []
synonym: "Pulmonary aortic stenosis obstructive uropathy" EXACT []
xref: MESH:C537010
is_a: DOID:12577 ! urethral obstruction
is_a: DOID:225 ! syndrome
is_a: DOID:850 ! lung disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9003857
name: Central Nervous System Cysts
def: "Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement." [MESH:D020863]
synonym: "Rathke's Cleft Cysts" EXACT []
synonym: "Rathke Cleft Cysts" EXACT []
synonym: "Rathkes Cleft Cysts" EXACT []
synonym: "Suprasellar Cyst" EXACT []
synonym: "Suprasellar Cysts" EXACT []
xref: EFO:0003760
xref: MESH:D020863
is_a: DOID:9006534 ! Nervous System Malformations
is_a: DOID:9007583 ! Cysts
is_a: DOID:9007701 ! Central Nervous System Neoplasms

[Term]
id: DOID:9003858
name: Environmental Illness
def: "A polysymptomatic condition believed by clinical ecologists to result from immune dysregulation induced by common foods, allergens, and chemicals, resulting in various physical and mental disorders. The medical community has remained largely skeptical of the existence of this 'disease', given the plethora of symptoms attributed to environmental illness, the lack of reproducible laboratory abnormalities, and the use of unproven therapies to treat the condition. (From Segen, Dictionary of Modern Medicine, 1992)" [MESH:D018876]
synonym: "Environmental Hypersensitivities" EXACT []
synonym: "Environmental Hypersensitivity" EXACT []
synonym: "Environmental Illnesses" EXACT []
xref: MESH:D018876
xref: RDO:0007230
is_a: DOID:1205 ! allergic disease
is_a: DOID:9001878 ! Disorders of Environmental Origin

[Term]
id: DOID:9003859
name: Immune & Inflammatory Diseases
def: "Diseases characterized by inflammation or disorders caused by abnormal/absent immunologic mechanisms, whether humoral, cell-mediated, or both." []
is_a: DOID:7 ! disease of anatomical entity
created_by: rgd
creation_date: 2017-04-18T00:00:00Z

[Term]
id: DOID:9003860
name: Morbillivirus Infections
def: "Infections with viruses of the genus MORBILLIVIRUS, family PARAMYXOVIRIDAE. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions." [MESH:D018185]
synonym: "Morbillivirus Infection" EXACT []
synonym: "Morbillivirus infectious disease" EXACT []
xref: EFO:0007377
xref: MESH:D018185
xref: RDO:0005381
is_a: DOID:9007244 ! Paramyxoviridae Infections

[Term]
id: DOID:9003861
name: Krieble Bixler Syndrome
synonym: "Autosomal dominant blepharophimosis with multiple congenital anomalies" EXACT []
xref: MESH:C537619
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9003862
name: Hypohidrosis with Abnormal Palmar Dermal Ridges
alt_id: MIM:241120
synonym: "Hypohidrosis aith Abnormal Palmar Dermal Ridges" RELATED []
synonym: "Sweat Gland Hypoplasia" EXACT []
xref: MESH:C565481
is_a: DOID:11155 ! hypohidrosis
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9003863
name: Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
alt_id: MIM:300719
xref: MESH:C567467
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:12336 ! male infertility
is_a: DOID:83 ! cataract
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9003864
name: 16Q24.3 Microdeletion Syndrome
alt_id: ORPHA:261250
def: "A syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. (Orphanet)" []
xref: RDO:9001300
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008165 ! Chromosome Deletion
created_by: rgd
creation_date: 2016-12-06T00:00:00Z

[Term]
id: DOID:9003865
name: Microcephaly, Short Stature, and Polymicrogyria with or without Seizures
def: "MSSP is caused by homozygous or compound heterozygous mutation in the RTTN gene on chromosome 18q22. (OMIM)" []
synonym: "microcephaly, short stature, and polymicrogyria with seizures" NARROW []
synonym: "MSSP" EXACT []
synonym: "PMGYS" NARROW []
synonym: "polymicrogyria with seizures" NARROW []
synonym: "RTTN-RELATED CONDITION" EXACT []
xref: MIM:614833
is_a: DOID:0080918 ! polymicrogyria
is_a: DOID:10907 ! microcephaly
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9003866
name: Chromosome 1, Monosomy 1q25 q32
synonym: "Deletion 1q25 q32" EXACT []
synonym: "Monosomy 1q25 q32" EXACT []
xref: MESH:C535596
xref: RDO:0000814
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9003867
name: Lymphomatoid Papulosis
def: "Clinically benign, histologically malignant, recurrent cutaneous T-cell lymphoproliferative disorder characterized by an infiltration of large atypical cells surrounded by inflammatory cells. The atypical cells resemble REED-STERNBERG CELLS of HODGKIN DISEASE or the malignant cells of CUTANEOUS T-CELL LYMPHOMA. In some cases, lymphomatoid papulosis progresses to lymphomatous conditions including MYCOSIS FUNGOIDES; HODGKIN DISEASE; CUTANEOUS T-CELL LYMPHOMA; or ANAPLASTIC LARGE-CELL LYMPHOMA." [MESH:D017731]
synonym: "Lymphomatoid Papuloses" EXACT []
xref: EFO:1000341
xref: MESH:D017731
is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma

[Term]
id: DOID:9003868
name: Diffuse Cutaneous Leishmaniasis
def: "A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." [MESH:D016774]
synonym: "Diffuse Cutaneous Leishmaniases" EXACT []
xref: EFO:1001784
xref: MESH:D016774
is_a: DOID:9111 ! cutaneous leishmaniasis

[Term]
id: DOID:9003869
name: Melhem Fahl Syndrome
synonym: "Fifteen dorsal vertebrae and rib pairs" EXACT []
xref: MESH:C537238
xref: RDO:0003030
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9003870
name: Herpes Simplex Encephalitis
def: "An acute (or rarely chronic) inflammatory process of the brain caused by SIMPLEXVIRUS infections which may be fatal. The majority of infections are caused by human herpesvirus 1 (HERPESVIRUS 1, HUMAN) and less often by human herpesvirus 2 (HERPESVIRUS 2, HUMAN). Clinical manifestations include FEVER; HEADACHE; SEIZURES; HALLUCINATIONS; behavioral alterations; APHASIA; hemiparesis; and COMA. Pathologically, the condition is marked by a hemorrhagic necrosis involving the medial and inferior TEMPORAL LOBE and orbital regions of the FRONTAL LOBE. (From Adams et al., Principles of Neurology, 6th ed, pp751-4)" [MESH:D020803]
synonym: "herpes encephalitis" EXACT []
synonym: "Herpes Simplex Encephalitides" EXACT []
synonym: "Herpes Simplex Meningoencephalitides" EXACT []
synonym: "Herpes Simplex Meningoencephalitis" EXACT []
synonym: "Herpetic Acute Necrotizing Encephalitis" EXACT []
synonym: "Herpetic Encephalitides" EXACT []
synonym: "Herpetic Encephalitis" EXACT []
synonym: "Herpetic Meningoencephalitides" EXACT []
synonym: "Herpetic Meningoencephalitis" EXACT []
synonym: "meningoencephalitis, herpes simplex virus" EXACT []
xref: MESH:D020803
xref: NCI:C84762
is_a: DOID:646 ! viral encephalitis
is_a: DOID:8566 ! herpes simplex

[Term]
id: DOID:9003871
name: Venous Thrombosis
def: "The formation or presence of a blood clot (THROMBUS) within a vein." [MESH:D020246]
synonym: "deep vein thromboses" EXACT []
synonym: "Deep Vein Thrombosis" EXACT []
synonym: "deep venous thromboses" EXACT []
synonym: "Deep Venous Thrombosis" EXACT []
synonym: "DVT" EXACT []
synonym: "Phlebothromboses" EXACT []
synonym: "phlebothrombosis" EXACT []
synonym: "venous thromboses" EXACT []
synonym: "venous thrombosis, susceptibility to" RELATED []
xref: EFO:0003907
xref: MESH:D020246
xref: NCI:C49343
is_a: DOID:0060903 ! thrombosis
is_a: DOID:866 ! vein disease

[Term]
id: DOID:9003872
name: Alpha-Mannosidosis, Type 2
alt_id: RDO:0002211
alt_id: RDO:0014059
def: "A moderate form recognized before age ten years with presence of skeletal abnormalities, myopathy, and slow progression. It is the most common form. (GARD)" []
synonym: "alpha-mannosidosis, type II" EXACT []
xref: MESH:C536585
xref: MESH:C565418
is_a: DOID:3413 ! alpha-mannosidosis

[Term]
id: DOID:9003873
name: Gingival Fibromatosis 1
alt_id: MIM:135300
synonym: "GGF1" EXACT []
synonym: "GINGF" EXACT []
synonym: "GINGF1" EXACT []
synonym: "gingival fibromatosis, type 1" EXACT []
synonym: "hereditary gingival fibromatosis 1" EXACT []
synonym: "HGF" EXACT []
synonym: "SOS1-RELATED CONDITION" BROAD []
xref: MESH:C562884
is_a: DOID:0060466 ! gingival fibromatosis

[Term]
id: DOID:9003875
name: Bleeding Disorder, East Texas Type
alt_id: MIM:605913
synonym: "BDET" EXACT []
xref: MESH:C565275
is_a: DOID:1247 ! blood coagulation disease

[Term]
id: DOID:9003876
name: Jaw Diseases
def: "Diseases involving the JAW." [MESH:D007571]
synonym: "Jaw Disease" EXACT []
xref: EFO:0009468
xref: MESH:D007571
is_a: DOID:17 ! musculoskeletal system disease
is_a: DOID:9001349 ! Stomatognathic Diseases

[Term]
id: DOID:9003877
name: Postaxial Polydactyly, Type A6
alt_id: RDO:9000873
synonym: "PAPA6" EXACT []
xref: MIM:615226
is_a: DOID:9003071 ! Postaxial Polydactyly

[Term]
id: DOID:9003878
name: Parasitic Pregnancy Complications
def: "The co-occurrence of pregnancy and parasitic diseases. The parasitic infection may precede or follow FERTILIZATION." [MESH:D015597]
synonym: "Parasitic Complications Pregnancies" EXACT []
synonym: "Parasitic Pregnancy Complication" EXACT []
xref: MESH:D015597
is_a: DOID:1398 ! parasitic infectious disease
is_a: DOID:9008808 ! Pregnancy Complications, Infectious

[Term]
id: DOID:9003879
name: Vein of Galen Aneurysm
synonym: "Ectasia or varix of the vein of Galen" EXACT []
synonym: "Galenic arteriovenous malformation" EXACT []
synonym: "Galen vein aneurysm" EXACT []
synonym: "Vein of Galen aneurysm malformation" EXACT []
synonym: "VGAM" EXACT []
xref: GARD:5467
xref: MESH:C536535
xref: MONDO:0015196
xref: ORDO:1053
is_a: DOID:9007972 ! Vein of Galen Malformations

[Term]
id: DOID:9003880
name: Primary Bile Acid Malabsorption
synonym: "PBAM" EXACT []
xref: MESH:C567652
is_a: DOID:13250 ! diarrhea
is_a: DOID:9003711 ! Steatorrhea

[Term]
id: DOID:9003881
name: Epidermolysis Bullosa Simplex 5C with Pyloric Atresia
alt_id: MIM:612138
synonym: "EBS5C" EXACT []
synonym: "EBS-PA" EXACT []
synonym: "EBSPA" EXACT []
synonym: "EBS with pyloric atresia" EXACT []
synonym: "epidermolysis bullosa simplex with pyloric atresia" EXACT []
xref: MESH:C567408
is_a: DOID:4644 ! epidermolysis bullosa simplex

[Term]
id: DOID:9003882
name: Chromosomal Instability
def: "An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional." [MESH:D043171]
synonym: "Chromosomal Instabilities" EXACT []
synonym: "Chromosomal Stabilities" EXACT []
synonym: "Chromosomal Stability" EXACT []
synonym: "Chromosome Instabilities" EXACT []
synonym: "Chromosome Instability" EXACT []
synonym: "Chromosome Stabilities" EXACT []
synonym: "Chromosome Stability" EXACT []
xref: MESH:D043171
is_a: DOID:9002981 ! Genomic Instability
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9003883
name: Isolated Macrothrombocytopenia 2, Autosomal Dominant
def: "Characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes. Caused by heterozygous mutation in the TUBA8 gene on chromosome 22q11." [MIM:619840]
synonym: "MACTHC2" EXACT []
xref: MIM:619840
is_a: DOID:9004194 ! Isolated Macrothrombocytopenia
created_by: mtutaj
creation_date: 2022-04-28T10:51:18Z

[Term]
id: DOID:9003884
name: Recombinant Chromosome 8 Syndrome
alt_id: MIM:179613
synonym: "CHROMOSOME 8q22.1-qter DUPLICATION AND 8pter-p23.1 DELETION" EXACT []
synonym: "Rec(8) Syndrome" EXACT []
synonym: "REC8 SYNDROME" EXACT []
synonym: "Recombinant 8 Syndrome" EXACT []
synonym: "San Luis Valley recombinant chromosome 8 syndrome" EXACT []
synonym: "San Luis Valley syndrome" EXACT []
xref: MESH:C535296
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9003885
name: Singleton-Merten Syndrome 1
def: "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene. (MONDO)" []
synonym: "SGMRT1" EXACT []
xref: MIM:182250
xref: MONDO:0024535
is_a: DOID:9007304 ! Singleton Merten Syndrome
created_by: mtutaj
creation_date: 2019-03-26T00:00:00Z

[Term]
id: DOID:9003886
name: Trichodysplasia-Xeroderma
alt_id: MIM:190360
xref: MESH:C566032
is_a: DOID:1697 ! ichthyosis
is_a: DOID:421 ! hair disease

[Term]
id: DOID:9003887
name: Long Term Adverse Effects
def: "Persistent detrimental effects from treatment for a condition. Included are effects from surgery such as POSTOPERATIVE COMPLICATIONS, and from DRUG THERAPY, such as CHEMICALLY INDUCED DISORDERS, or other THERAPEUTICS. Failure to attain a desired outcome from treatment for the condition is not considered an adverse effect." [MESH:D000069451]
xref: MESH:D000069451
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9003888
name: Brachydactyly Type E, with Atrial Septal Defect, Type II
alt_id: MIM:113301
xref: MESH:C566193
is_a: DOID:0110107 ! atrial heart septal defect 2
is_a: DOID:9006432 ! Brachydactyly, Type E

[Term]
id: DOID:9003889
name: Focal Cortical Dysplasia of Taylor, Type IIB
synonym: "CDTBC" EXACT []
synonym: "CORTICAL DYSPLASIA OF TAYLOR WITH BALLOON CELLS" EXACT []
synonym: "FCD IIB" EXACT []
synonym: "FCORD2B" EXACT []
synonym: "FOCAL CORTICAL DYSPLASIA, TYPE IIB" EXACT []
is_a: DOID:9008426 ! Focal Cortical Dysplasia of Taylor
created_by: mtutaj
creation_date: 2019-12-19T13:17:40Z

[Term]
id: DOID:9003890
name: X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia
alt_id: MIM:300367
alt_id: RDO:0008582
alt_id: RDO:0013462
alt_id: RDO:0013463
synonym: "dyserythropoietic anemia and thrombocytopenia" NARROW []
synonym: "dyserythropoietic anemia with thrombocytopenia" NARROW []
synonym: "Gata1-Related Cytopenia" EXACT []
synonym: "GATA-1-RELATED THROMBOCYTOPENIA WITH DYSERYTHROPOIESIS" NARROW []
synonym: "Gata1-Related X-Linked Cytopenia" EXACT []
synonym: "THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA" NARROW []
synonym: "THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA" NARROW []
synonym: "X-linked macrothrombocytopenia" EXACT []
synonym: "XLTDA" EXACT []
xref: MESH:C564525
xref: MESH:C564526
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:1338 ! congenital dyserythropoietic anemia
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:9003891
name: Osteopoikilosis and Dacryocystitis
alt_id: MIM:166705
synonym: "Dacryocystitis osteopoikilosis" EXACT []
synonym: "Gunal Seber Basaran syndrome" EXACT []
xref: MESH:C536061
is_a: DOID:11991 ! Osteopoikilosis
is_a: DOID:9938 ! dacryocystitis

[Term]
id: DOID:9003892
name: Mismatch Repair Cancer Syndrome 1
synonym: "brain tumor-polyposis syndrome 1" EXACT []
synonym: "BTP1 syndrome" EXACT []
synonym: "BTPS1" EXACT []
synonym: "MLH1-RELATED CONDITION" BROAD []
synonym: "MMRCS1" EXACT []
xref: MIM:276300
is_a: DOID:0112182 ! mismatch repair cancer syndrome
created_by: mtutaj
creation_date: 2020-11-30T11:27:02Z

[Term]
id: DOID:9003893
name: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE
def: "A disease characterized by retinal and neurodevelopmental disease as well as occasional anomalies of glucose homeostasis. Patients exhibit low vision, photophobia, and nystagmus, and show an electronegative waveform in response to bright flash under dark adaptation on electroretinography, with severely reduced and delayed light-adapted responses. Neurodevelopmental features include poor to no language and autistic behaviors." [MIM:618970]
synonym: "congenital nonprogressive cone-rod synaptic disorder syndrome" EXACT []
synonym: "CRSDS" EXACT []
xref: MIM:618970
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2020-09-04T18:39:17Z

[Term]
id: DOID:9003894
name: Angiofollicular Ganglionic Hyperplasia
xref: MESH:C536362
xref: RDO:0001922
is_a: DOID:0111157 ! Castleman disease

[Term]
id: DOID:9003895
name: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2
def: "A recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification." [MIM:618193]
synonym: "PLOSL2" EXACT []
xref: MIM:618193
is_a: DOID:9000412 ! Presenile and Senile Dementia
is_a: DOID:9009089 ! Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly
created_by: slaulede
creation_date: 2018-12-07T14:02:19Z

[Term]
id: DOID:9003896
name: Polyps
def: "Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." [MESH:D011127]
synonym: "Polyp" EXACT []
synonym: "vocal cord polyp" NARROW []
xref: EFO:0000662
xref: EFO:0009478
xref: EFO:1000300
xref: MESH:D011127
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9003897
name: Iris Hypoplasia and Glaucoma
alt_id: MIM:308500
synonym: "IHG" EXACT []
synonym: "iris hypoplasia with glaucoma" EXACT []
xref: MESH:C535538
is_a: DOID:1686 ! glaucoma
is_a: DOID:240 ! iris disease
is_a: DOID:5679 ! retinal disease

[Term]
id: DOID:9003898
name: Chloramphenicol Toxicity
synonym: "chloramphenicol-induced anemia" EXACT []
synonym: "chloramphenicol resistance" RELATED []
xref: MIM:515000
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions
created_by: rgd
creation_date: 2015-07-14T00:00:00Z

[Term]
id: DOID:9003899
name: Thomas Jewett Raines Syndrome
xref: MESH:C536513
is_a: DOID:10629 ! microphthalmia
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9003752 ! Persistent Truncus Arteriosus
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9003900
name: Keratosis Follicularis, Dwarfism, and Cerebral Atrophy
alt_id: MIM:308830
synonym: "Keratosis Follicularis Dwarfism Cerebral Atrophy" EXACT []
xref: MESH:C536158
is_a: DOID:2734 ! keratosis follicularis
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9003901
name: Atrial Flutter
def: "Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)." [MESH:D001282]
synonym: "Atrial Flutters" EXACT []
synonym: "Auricular Flutter" EXACT []
synonym: "Auricular Flutters" EXACT []
xref: EFO:0003911
xref: MESH:D001282
xref: MONDO:0005310
xref: NCI:C51224
is_a: DOID:9003484 ! Atrial Tachycardia

[Term]
id: DOID:9003902
name: Progressive Myoclonus Epilepsy 11
synonym: "EPM11" EXACT []
synonym: "progressive myoclonic epilepsy 11" EXACT []
xref: MIM:618876
is_a: DOID:891 ! progressive myoclonus epilepsy
created_by: mtutaj
creation_date: 2020-05-13T09:55:18Z

[Term]
id: DOID:9003904
name: Autosomal Dominant Intellectual Developmental Disorder 69
def: "Characterized by developmental delay with variably impaired intellectual development. Caused by heterozygous mutation in the LMAN2L gene on chromosome 2q11." [MIM:617863]
synonym: "autosomal dominant mental retardation 69" EXACT []
synonym: "MRD69" EXACT []
xref: MIM:617863
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-07-18T11:17:42Z

[Term]
id: DOID:9003905
name: Benign Familial Chorea
alt_id: MIM:215450
xref: MESH:C565851
is_a: DOID:12859 ! choreatic disease

[Term]
id: DOID:9003906
name: Nervous System Paraneoplastic Syndromes
def: "Degenerative or inflammatory conditions affecting the central or peripheral nervous system that develop in association with a systemic neoplasm without direct invasion by tumor. They may be associated with circulating antibodies that react with the affected neural tissue. (Intern Med 1996 Dec;35(12):925-9)" [MESH:D020361]
synonym: "Paraneoplastic Autonomic Dysfunction" EXACT []
synonym: "Paraneoplastic Autonomic Dysfunctions" EXACT []
synonym: "Paraneoplastic Encephalomyelitides" EXACT []
synonym: "Paraneoplastic Encephalomyelitis" EXACT []
synonym: "Paraneoplastic Neurologic Syndrome" EXACT []
synonym: "Paraneoplastic Neurologic Syndromes" EXACT []
xref: MESH:D020361
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:9006557 ! Nervous System Neoplasms
is_a: DOID:9007199 ! Paraneoplastic Syndromes

[Term]
id: DOID:9003907
name: Aicardi-Goutieres Syndrome 2
synonym: "AGS2" EXACT []
synonym: "RNASEH2B-RELATED CONDITION" EXACT []
xref: MIM:610181
xref: NCI:C165673
is_a: DOID:0050629 ! Aicardi-Goutieres syndrome
created_by: rgd
creation_date: 2017-12-14T00:00:00Z

[Term]
id: DOID:9003908
name: Microcolon
alt_id: MIM:251400
xref: MESH:C562563
is_a: DOID:8437 ! intestinal obstruction

[Term]
id: DOID:9003909
name: Immunodeficiency 67
alt_id: MESH:C564352
def: "An autosomal recessive primary immunodeficiency characterized by recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. (OMIM)" []
synonym: "IMD67" EXACT []
synonym: "INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST" RELATED []
synonym: "INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED" NARROW []
synonym: "Invasive Pneumococcal Disease, Recurrent Isolated, 1" EXACT []
synonym: "IPD1" EXACT []
synonym: "IRAK4D" EXACT []
synonym: "IRAK-4 deficiency" EXACT []
synonym: "IRAK4 deficiency" EXACT []
xref: MIM:607676
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9003910
name: Chromosome 18 Mosaic Monosomy
synonym: "Monosomy 18 mosaicism" EXACT []
xref: MESH:C536581
xref: RDO:0002206
is_a: DOID:9004684 ! Monosomy

[Term]
id: DOID:9003911
name: Aniridia 2
synonym: "AN2" EXACT []
xref: MIM:617141
is_a: DOID:12271 ! aniridia
created_by: mtutaj
creation_date: 2019-03-26T08:14:06Z

[Term]
id: DOID:9003912
name: Bundle-Branch Block
def: "A form of heart block in which the electrical stimulation of HEART VENTRICLES is interrupted at either one of the branches of BUNDLE OF HIS thus preventing the simultaneous depolarization of the two ventricles." []
synonym: "Anterior Fascicular Block" EXACT []
synonym: "anterior fascicular blocks" EXACT []
synonym: "bundle branch blocks" EXACT []
synonym: "Fascicular Block" EXACT []
synonym: "Fascicular Blocks" EXACT []
synonym: "Left Bundle Branch Block" EXACT []
synonym: "Left Bundle-Branch Blocks" EXACT []
synonym: "posterior fascicular block" EXACT []
synonym: "posterior fascicular blocks" EXACT []
xref: EFO:0004138
xref: MESH:D002037
is_a: DOID:9003163 ! Heart Block

[Term]
id: DOID:9003913
name: Postoperative Nausea and Vomiting
def: "Emesis and queasiness occurring after anesthesia." [MESH:D020250]
synonym: "PONV" EXACT []
synonym: "Postoperative Emeses" EXACT []
synonym: "Postoperative Emesis" EXACT []
synonym: "Postoperative Nausea" EXACT []
synonym: "Postoperative Vomiting" EXACT []
xref: EFO:0004888
xref: MESH:D020250
xref: RDO:0007375
is_a: DOID:9000790 ! Postoperative Complications
is_a: DOID:9004751 ! Nausea
is_a: DOID:9008385 ! Vomiting

[Term]
id: DOID:9003915
name: Faundes-Banka Syndrome
def: "An autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features. Caused by heterozygous mutation in the EIF5A gene on chromosome 17p13. (OMIM)" []
synonym: "FABAS" EXACT []
xref: MIM:619376
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2021-06-11T12:22:01Z

[Term]
id: DOID:9003917
name: Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia
alt_id: MIM:607944
synonym: "ROIFMAN IMMUNOSKELETAL SYNDROME" EXACT []
synonym: "SPENCD" EXACT []
synonym: "SPENCDI" EXACT []
synonym: "Spondyloenchondrodysplasia with Immune Dysregulation" EXACT []
xref: MESH:C564307
is_a: DOID:0111962 ! combined immunodeficiency
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
is_a: DOID:417 ! autoimmune disease

[Term]
id: DOID:9003918
name: Forebrain Defects
xref: MESH:C566067
xref: RDO:0014538
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003919
name: Urination Disorders
def: "Abnormalities in the process of URINE voiding, including bladder control, frequency of URINATION, as well as the volume and composition of URINE." [MESH:D014555]
synonym: "Urination Disorder" EXACT []
xref: MESH:D014555
is_a: DOID:18 ! urinary system disease

[Term]
id: DOID:9003920
name: Microtia, Hearing Impairment, and Cleft Palate
alt_id: MIM:612290
synonym: "MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT" NARROW []
xref: MESH:C567359
xref: RDO:0015450
is_a: DOID:674 ! cleft palate
is_a: DOID:9001502 ! Congenital Microtia
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9003921
name: Zinc Deficiency
def: "A nutritional condition produced by a deficiency of zinc in the diet.  Symptoms include growth and development problems, hair loss, diarrhea, impotence, eye and skin conditions, and loss of appetite. (mayoclinic.org)" []
xref: EFO:1000003
xref: RDO:9001297
is_a: DOID:5113 ! nutritional deficiency disease
created_by: rgd
creation_date: 2016-11-17T00:00:00Z

[Term]
id: DOID:9003922
name: Developmental and Epileptic Encephalopathy 113
def: "A disease characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam. Caused by homozygous mutation in the SVA2 gene on chromosome 1q21." [MIM:620772]
synonym: "DEE113" EXACT []
xref: MIM:620772
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: tutajm
creation_date: 2024-04-23T09:25:16Z

[Term]
id: DOID:9003923
name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES
def: "This disease is an autosomal recessive disorder characterized by global developmental delay, hypotonia, delayed or absent walking, impaired intellectual development, and poor or absent speech, apparent from early infancy. Patients have postnatal progressive microcephaly." [MIM:620317]
synonym: "NEDMSBA" EXACT []
xref: MIM:620317
is_a: DOID:10907 ! microcephaly
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:92 ! speech disorder
created_by: slaulede
creation_date: 2023-06-20T09:37:36Z

[Term]
id: DOID:9003924
name: Asymptomatic Diseases
def: "Diseases that do not exhibit symptoms." [MESH:D058070]
synonym: "Asymptomatic Condition" EXACT []
synonym: "Asymptomatic Conditions" EXACT []
synonym: "Asymptomatic Disease" EXACT []
synonym: "Asymptomatic State" EXACT []
synonym: "Asymptomatic States" EXACT []
synonym: "Pre-Symptomatic Disease" EXACT []
synonym: "Presymptomatic Disease" EXACT []
synonym: "Pre-Symptomatic Diseases" EXACT []
synonym: "Presymptomatic Diseases" EXACT []
xref: MESH:D058070
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9003926
name: Sandhoff Disease, Infantile Type
synonym: "Infantile Sandhoff Disease" EXACT []
is_a: DOID:3323 ! Sandhoff disease

[Term]
id: DOID:9003927
name: Pointer Syndrome
synonym: "Skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties" EXACT []
xref: MESH:C536323
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
is_a: DOID:8670 ! eating disorder
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003928
name: Cytomegalic Inclusion Body Disease
xref: MESH:C538505
is_a: DOID:9006262 ! Cytomegalovirus Infections

[Term]
id: DOID:9003929
name: Basal Cell Neoplasms
alt_id: RDO:0002170
def: "Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale." [MESH:D018295]
synonym: "basal cell neoplasm" EXACT []
xref: EFO:1001763
xref: MESH:D018295
is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms

[Term]
id: DOID:9003930
name: Familial Myoclonus 2
synonym: "MYOCL2" EXACT []
xref: MIM:618364
is_a: DOID:9007722 ! Myoclonus
created_by: mtutaj
creation_date: 2020-01-21T14:27:19Z

[Term]
id: DOID:9003931
name: Tatsumi Factor Deficiency
alt_id: MIM:272650
xref: MESH:C564787
is_a: DOID:9004931 ! Coagulation Protein Disorders

[Term]
id: DOID:9003932
name: Facial Pain
def: "Pain in the facial region including orofacial pain and craniofacial pain. Associated conditions include local inflammatory and neoplastic disorders and neuralgic syndromes involving the trigeminal, facial, and glossopharyngeal nerves. Conditions which feature recurrent or persistent facial pain as the primary manifestation of disease are referred to as FACIAL PAIN SYNDROMES." [MESH:D005157]
synonym: "Craniofacial Pain" EXACT []
synonym: "Face Pain" EXACT []
synonym: "Myofacial Pain" EXACT []
synonym: "Neuralgic Facial Pain" EXACT []
synonym: "Orofacial Pain" EXACT []
xref: EFO:0009625
xref: MESH:D005157
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9003933
name: Benign Cerebellar Ataxia with Thermoanalgesia
alt_id: MIM:212890
synonym: "Cerebellar Ataxia with Loss of Pain and Temperature Sensation" EXACT []
xref: MESH:C565868
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:9008625 ! Somatosensory Disorders

[Term]
id: DOID:9003934
name: Mehes Syndrome
xref: MESH:C536146
is_a: DOID:225 ! syndrome
is_a: DOID:540 ! strabismus
is_a: DOID:9005466 ! Language Development Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008797 ! Facial Asymmetry

[Term]
id: DOID:9003935
name: Myokymia
def: "Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. (Adams et al., Principles of Neurology, 6th ed, p1491)" [MESH:D020385]
synonym: "Fibrillary Chorea" EXACT []
synonym: "Fibrillary Choreas" EXACT []
synonym: "Generalized Myokymia" EXACT []
synonym: "Generalized Myokymias" EXACT []
synonym: "Kymatism" EXACT []
synonym: "Kymatisms" EXACT []
synonym: "Morvan's Chorea" EXACT []
synonym: "Morvan's Choreas" EXACT []
synonym: "Morvan's Fibrillary Chorea" EXACT []
synonym: "Morvan Chorea" EXACT []
synonym: "Morvan Choreas" EXACT []
synonym: "Morvan Fibrillary Chorea" EXACT []
synonym: "Morvans Chorea" EXACT []
synonym: "Morvans Fibrillary Chorea" EXACT []
synonym: "Myokymias" EXACT []
xref: MESH:D020385
is_a: DOID:9000165 ! Neuromuscular Manifestations

[Term]
id: DOID:9003936
name: Cardiomegaly
def: "Enlargement of the HEART, usually indicated by a cardiothoracic ratio above 0.50. Heart enlargement may involve the right, the left, or both HEART VENTRICLES or HEART ATRIA. Cardiomegaly is a nonspecific symptom seen in patients with chronic systolic heart failure (HEART FAILURE) or several forms of CARDIOMYOPATHIES." [MESH:D006332]
synonym: "Cardiac Hypertrophy" EXACT []
synonym: "Enlarged Heart" EXACT []
synonym: "Heart Enlargement" EXACT []
synonym: "Heart Hypertrophy" EXACT []
xref: EFO:0002503
xref: MESH:D006332
is_a: DOID:114 ! heart disease
is_a: DOID:9000040 ! Hypertrophy

[Term]
id: DOID:9003937
name: X Chromosome, Trisomy Xq25
alt_id: MIM:300979
synonym: "chromosome Xq25 duplication syndrome" EXACT []
synonym: "chromosome Xq25 triplication syndrome" NARROW []
synonym: "Duplication Xq25" EXACT []
synonym: "Trisomy Xq25" EXACT []
synonym: "Xq25 duplication syndrome" EXACT []
xref: MESH:C536733
is_a: DOID:9003307 ! Sex Chromosome Aberrations
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9003938
name: Foot Deformities
def: "Alterations or deviations from normal shape or size which result in a disfigurement of the foot." [MESH:D005530]
synonym: "Foot Deformity" EXACT []
synonym: "Metatarsal Deformities" EXACT []
synonym: "Metatarsal Deformity" EXACT []
xref: MESH:D005530
xref: RDO:0000726
is_a: DOID:17 ! musculoskeletal system disease

[Term]
id: DOID:9003939
name: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME
def: "This is an autosomal recessive disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills. Affected individuals have absent language, poor or absent social skills, and behavioral abnormalities." [MIM:619690]
synonym: "BRUWAG" EXACT []
xref: MIM:619690
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2022-03-10T13:53:21Z

[Term]
id: DOID:9003940
name: Larva Migrans
def: "Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in man. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans." [MESH:D007815]
synonym: "Creeping Eruption" EXACT []
synonym: "Creeping Eruptions" EXACT []
synonym: "Cutaneous Larva Migrans" EXACT []
synonym: "Dew Itch" EXACT []
synonym: "Dew Itchs" EXACT []
synonym: "Ground Itch" EXACT []
synonym: "Ground Itchs" EXACT []
synonym: "Ocular Larva Migrans" EXACT []
xref: MESH:D007815
is_a: DOID:9002992 ! Nematode Infections
is_a: DOID:9007630 ! Parasitic Skin Diseases

[Term]
id: DOID:9003941
name: Myopia 5
alt_id: MIM:608474
synonym: "MYOPIA 5, AUTOSOMAL DOMINANT" EXACT []
synonym: "MYP5" EXACT []
xref: MESH:C563922
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9003942
name: Esophageal Ring, Lower
alt_id: MIM:133240
xref: MESH:C562765
is_a: DOID:9000123 ! Deglutition Disorders

[Term]
id: DOID:9003943
name: Diploid-Triploid Mosaicism
xref: MESH:C548012
is_a: DOID:9005779 ! Polyploidy

[Term]
id: DOID:9003944
name: Connective Tissue Neoplasms
def: "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue." [MESH:D009372]
synonym: "connective tissue neoplasm" EXACT []
synonym: "neoplasm of connective tissues" EXACT []
synonym: "tumour of connective tissue" EXACT []
xref: MESH:D009372
xref: MONDO:0021581
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9008612 ! Connective and Soft Tissue Neoplasms

[Term]
id: DOID:9003945
name: Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities
def: "An autosomal recessive disorder characterized by severe global developmental delay with impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facies, including large abnormally shaped ears and strabismus, hypotonia, and dry skin with keratosis pilaris. Caused by homozygous or compound heterozygous mutation in the PGM2L1 gene on chromosome 11q13." [MIM:620191]
synonym: "NEDHFS" EXACT []
xref: MIM:620191
is_a: DOID:9001487 ! Facies
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: mtutaj
creation_date: 2023-01-16T10:17:48Z

[Term]
id: DOID:9003946
name: Platelet-Type Bleeding Disorder 21
def: "A hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. (OMIM)" []
synonym: "BDPLT21" EXACT []
synonym: "platelet-type bleeding disorder 21, autosomal recessive" NARROW []
xref: MIM:617443
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9003947
name: Parasitic Lung Diseases
def: "Infections of the lungs with parasites, most commonly by parasitic worms (HELMINTHS)." [MESH:D008174]
synonym: "Lung Parasitic Infection" EXACT []
synonym: "Lung Parasitic Infections" EXACT []
synonym: "Parasitic Infections of Lung" EXACT []
synonym: "Parasitic Lung Disease" EXACT []
synonym: "Pulmonary Parasitic Infection" EXACT []
synonym: "Pulmonary Parasitic Infections" EXACT []
xref: MESH:D008174
is_a: DOID:1398 ! parasitic infectious disease
is_a: DOID:850 ! lung disease
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:9003948
name: Autosomal Dominant Nonsyndromic Deafness 89
def: "A nonsyndromic progressive age-related hearing loss, with onset at birth or in early childhood, caused by heterozygous mutation in the ATOH1 gene on chromosome 4q22." [MIM:620284]
synonym: "Deafness, autosomal dominant 89" EXACT []
synonym: "DFNA89" EXACT []
xref: MIM:620284
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2023-03-14T10:10:27Z

[Term]
id: DOID:9003949
name: Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome
synonym: "MDPL" EXACT []
xref: MIM:615381
xref: RDO:9000925
is_a: DOID:225 ! syndrome
is_a: DOID:3911 ! progeria
is_a: DOID:811 ! lipodystrophy
is_a: DOID:9000066 ! Jaw Abnormalities
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9003950
name: Familial Hyperaldosteronism, Type IV
synonym: "ALDOSTERONISM, PRIMARY, AND HYPERTENSION" EXACT []
synonym: "CACNA1H-RELATED DISORDER" BROAD []
synonym: "FH IV" EXACT []
synonym: "HALD4" EXACT []
xref: MIM:617027
is_a: DOID:446 ! primary hyperaldosteronism

[Term]
id: DOID:9003951
name: Auriculoosteodysplasia
alt_id: MIM:109000
synonym: "Auriculo-osteodysplasia" EXACT []
synonym: "Multiple osseous dysplasia, characteristic ear shape, and short stature" EXACT []
xref: MESH:C538271
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9003952
name: Verheij Syndrome
synonym: "chromosome 8q24.3 deletion syndrome" EXACT []
synonym: "INTELLECTUAL DISABILITY-CARDIAC ANOMALIES-SHORT STATURE-JOINT LAXITY SYNDROME" EXACT []
synonym: "VRJS" EXACT []
xref: MIM:615583
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9003953
name: Surfactant Dysfunction
synonym: "Interstitial Lung Disease Due To Surfactant Deficiency" EXACT []
synonym: "Pulmonary Surfactant Metabolism Dysfunction" EXACT []
synonym: "PULMONARY SURFACTANT METABOLISM DYSFUNCTION, RECESSIVE" NARROW []
synonym: "Surfactant Metabolism Deficiency" EXACT []
xref: MESH:C580477
xref: RDO:0015934
is_a: DOID:3082 ! interstitial lung disease

[Term]
id: DOID:9003954
name: Respiratory Acidosis
alt_id: RDO:0004707
def: "Respiratory retention of carbon dioxide. It may be chronic or acute." [MESH:D000142]
synonym: "Respiratory Acidoses" EXACT []
xref: MESH:D000142
is_a: DOID:11162 ! respiratory failure
is_a: DOID:9002802 ! Acidoses

[Term]
id: DOID:9003955
name: Chromosome 7, monosomy 7q3
synonym: "Deletion 7q3" EXACT []
synonym: "Monosomy 7q3" EXACT []
xref: MESH:C537817
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9003956
name: Lynch Lee Murday syndrome
alt_id: RDO:0003601
synonym: "Caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation" EXACT []
xref: MESH:C537713
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9003957
name: Chromosome 5, Uniparental Disomy
synonym: "Mosaic trisomy of chromosome 5" EXACT []
synonym: "Uniparental disomy of 5" EXACT []
xref: MESH:C537762
xref: RDO:0003660
is_a: DOID:12580 ! Cri-du-Chat syndrome
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:9003958
name: Congenital Muscular Dystrophy with Rapid Progression
alt_id: MIM:254100
synonym: "MDRP" EXACT []
xref: MESH:C564983
is_a: DOID:0050557 ! congenital muscular dystrophy

[Term]
id: DOID:9003959
name: Ventricular Septal Defect 1
synonym: "VSD1" EXACT []
xref: MIM:614429
is_a: DOID:1657 ! ventricular septal defect

[Term]
id: DOID:9003960
name: Trisomy
def: "The possession of a third chromosome of any one type in an otherwise diploid cell." [MESH:D014314]
synonym: "Chromosomal Triplication" EXACT []
synonym: "chromosomal triplications" EXACT []
synonym: "Partial Trisomies" EXACT []
synonym: "Partial Trisomy" EXACT []
synonym: "trisomies" EXACT []
xref: MESH:D014314
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:9008692 ! Aneuploidy

[Term]
id: DOID:9003962
name: Lower Urinary Tract Symptoms
def: "Symptoms of disorders of the lower urinary tract including frequency, NOCTURIA; urgency, incomplete voiding, and URINARY INCONTINENCE. They are often associated with OVERACTIVE BLADDER; URINARY INCOMPETENCE; and INTERSTITIAL CYSTITIS. Lower urinary tract symptoms in males were traditionally called PROSTATISM." [MESH:D059411]
xref: EFO:0008008
xref: MESH:D059411
is_a: DOID:9007629 ! Urological Manifestations

[Term]
id: DOID:9003964
name: Reticular Pigmentary Retinal Dystrophy of Posterior Pole
xref: MESH:C564844
xref: MIM:267800
is_a: DOID:8501 ! fundus dystrophy

[Term]
id: DOID:9003965
name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY
def: "This disease is an autosomal recessive disorder characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. Those patients that survive until birth show profound global developmental delay with almost no motor or cognitive skills, hypotonia, spasticity, and seizures. The pathogenesis of the disease likely results from dysfunction of vascular endothelial cells in the brain." [MIM:620371]
synonym: "NEDIHSS" EXACT []
xref: MIM:620371
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2023-07-18T13:18:27Z

[Term]
id: DOID:9003966
name: Anophthalmia Plus Syndrome
alt_id: MIM:600776
synonym: "Fryns anophthalmia syndrome" EXACT []
synonym: "Fryns Microphthalmia Syndrome" EXACT []
synonym: "Microphthalmia with Facial Clefting" EXACT []
xref: MESH:C537767
is_a: DOID:225 ! syndrome
is_a: DOID:9002049 ! Anophthalmia

[Term]
id: DOID:9003968
name: Stress-Induced Hypertension
def: "High blood pressure associated with physical or emotional stress." []
synonym: "stress hypertension" EXACT []
is_a: DOID:10763 ! hypertension
created_by: rgd
creation_date: 2015-08-11T00:00:00Z

[Term]
id: DOID:9003969
name: Peri-Implantitis
def: "An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS." [MESH:D057873]
synonym: "Peri-Implantitides" EXACT []
synonym: "Periimplantitides" EXACT []
synonym: "Periimplantitis" EXACT []
xref: EFO:1001390
xref: MESH:D057873
is_a: DOID:3388 ! periodontal disease

[Term]
id: DOID:9003970
name: Preeclampsia/Eclampsia 1
synonym: "PEE1" EXACT []
synonym: "PREG1" EXACT []
xref: MIM:189800
is_a: DOID:10591 ! pre-eclampsia
created_by: mtutaj
creation_date: 2019-03-21T15:15:35Z

[Term]
id: DOID:9003971
name: Postoperative Pain
def: "Pain during the period after surgery." [MESH:D010149]
synonym: "Postoperative Pains" EXACT []
xref: MESH:D010149
is_a: DOID:9000641 ! Pain
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9003972
name: Human Herpesvirus Type 6, Integrated
alt_id: MIM:604474
xref: MESH:C565771
is_a: DOID:9002501 ! Roseolovirus Infections

[Term]
id: DOID:9003973
name: Childhood-Onset Chorea with Psychomotor Retardation
synonym: "COCPMR" EXACT []
xref: MIM:616939
is_a: DOID:12859 ! choreatic disease
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9003974
name: DEEAH Syndrome
def: "An autosomal recessive multisystemic disorder with onset in early infancy. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Patients also have dysmorphic and myopathic facial features." [MIM:619004]
synonym: "DEEAH" EXACT []
synonym: "developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities" EXACT []
synonym: "MADD-RELATED CONDITION" BROAD []
xref: MIM:619004
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: mtutaj
creation_date: 2020-11-18T14:09:37Z

[Term]
id: DOID:9003975
name: Garret Tripp Syndrome
synonym: "Mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip" EXACT []
xref: MESH:C535646
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1148 ! polydactyly
is_a: DOID:14415 ! Legg-Calve-Perthes disease
is_a: DOID:225 ! syndrome
is_a: DOID:8741 ! seborrheic dermatitis
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9003976
name: Infectious Bovine Rhinotracheitis
alt_id: RDO:0005886
def: "A herpesvirus infection of CATTLE characterized by INFLAMMATION and NECROSIS of the mucous membranes of the upper RESPIRATORY TRACT." [MESH:D007241]
synonym: "Infectious Bovine Rhinotracheitides" EXACT []
xref: MESH:D007241
is_a: DOID:9002834 ! Herpesviridae Infections
is_a: DOID:9004723 ! Cattle Diseases

[Term]
id: DOID:9003977
name: Digestive Signs and Symptoms
alt_id: RDO:0004763
def: "Digestive system manifestations of diseases of the gastrointestinal system or of other organs." [MESH:D012817]
xref: MESH:D012817
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9003978
name: Facio Thoraco Genital Syndrome
alt_id: MIM:227320
synonym: "congenital anomalies, involving mainly the face, thorax, and genitalia" EXACT []
synonym: "faciothoracogenital syndrome" EXACT []
xref: MESH:C536387
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9003980
name: Myopathy, Epilepsy, and Progressive Cerebral Atrophy
synonym: "MEPCA" EXACT []
xref: MIM:619036
is_a: DOID:1826 ! epilepsy
is_a: DOID:423 ! myopathy
is_a: DOID:936 ! brain disease
created_by: mtutaj
creation_date: 2020-10-06T09:55:41Z

[Term]
id: DOID:9003981
name: Fryns Syndrome
alt_id: MIM:229850
synonym: "Diaphragmatic hernia, abnormal face, and distal limb anomalies" EXACT []
synonym: "diaphragmatic hernia-abnormal face-distal limb anomalies syndrome" EXACT []
synonym: "FRNS" EXACT []
synonym: "Moerman Van den berghe Fryns syndrome" EXACT []
xref: GARD:3699
xref: MESH:C538070
xref: NCI:C98932
xref: ORDO:2059
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9009073 ! Diaphragmatic Hernia

[Term]
id: DOID:9003982
name: Restless Legs Syndrome 1
alt_id: MIM:102300
synonym: "restless legs syndrome, susceptibility to, 1" RELATED []
synonym: "RLS1" EXACT []
xref: MESH:C538443
is_a: DOID:0050425 ! restless legs syndrome

[Term]
id: DOID:9003983
name: Cervical Hypertrichosis Neuropathy
xref: MESH:C537956
xref: RDO:0003880
is_a: DOID:0050548 ! hereditary sensory neuropathy
is_a: DOID:420 ! hypertrichosis

[Term]
id: DOID:9003984
name: Hyperpigmentation
def: "Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance." [MESH:D017495]
synonym: "Hypermelanoses" EXACT []
synonym: "Hypermelanosis" EXACT []
xref: EFO:0009047
xref: MESH:D017495
is_a: DOID:10123 ! pigmentation disease

[Term]
id: DOID:9003985
name: Sebaceous Gland Hyperplasia, Familial Presenile
xref: MESH:C537530
xref: MIM:601700
xref: MONDO:0011130
is_a: DOID:3134 ! facial dermatosis
is_a: DOID:9002221 ! Hyperplasia

[Term]
id: DOID:9003986
name: FG Syndrome 3
synonym: "FGS3" EXACT []
xref: MIM:300406
is_a: DOID:14711 ! FG syndrome
created_by: mtutaj
creation_date: 2020-02-17T13:10:39Z

[Term]
id: DOID:9003987
name: Gastric Polyposis
synonym: "Gastric Hamartomatous Polyp" NARROW []
synonym: "Pyloric Gland Adenoma" NARROW []
xref: EFO:1000271
xref: EFO:1000501
xref: MESH:C562464
is_a: DOID:9000217 ! Stomach Neoplasms
is_a: DOID:9001441 ! Adenomatous Polyps

[Term]
id: DOID:9003988
name: Urethral Obstruction Sequence
synonym: "Early urethral obstruction sequence" EXACT []
xref: MESH:C536477
is_a: DOID:0060889 ! prune belly syndrome
is_a: DOID:11111 ! hydronephrosis
is_a: DOID:12215 ! oligohydramnios
is_a: DOID:12577 ! urethral obstruction
is_a: DOID:341 ! peripheral vascular disease
is_a: DOID:9001627 ! Pathologic Constriction

[Term]
id: DOID:9003989
name: Chromosome 1, Monosomy 1p34 p32
synonym: "Deletion 1p34 p32" EXACT []
synonym: "Monosomy 1p34 p32" EXACT []
xref: MESH:C535595
xref: RDO:0000813
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9003992
name: Familial Pancreatic Lymphoma
alt_id: MIM:602596
xref: MESH:C566516
is_a: DOID:1792 ! pancreas lymphoma

[Term]
id: DOID:9003994
name: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE
def: "This disease is an autosomal recessive disorder characterized predominantly by the onset of distal muscle weakness and atrophy late in the first decade of life. The disorder predominantly affects the upper limbs and hands, resulting in difficulties with fine motor skills. Electrophysiologic studies and muscle biopsy are consistent with chronic denervation with axonal and demyelinating features. Sensation is intact, and patients have normal cognitive development. Treatment with biotin, pantothenic acid, and lipoic acid may result in clinical improvement." [MIM:619903]
synonym: "COMNB" EXACT []
xref: MIM:619903
is_a: DOID:2477 ! motor peripheral neuropathy
created_by: slaulede
creation_date: 2022-08-01T09:54:16Z

[Term]
id: DOID:9003996
name: Birth Weight
def: "The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms." [MESH:D001724]
synonym: "Birth Weights" EXACT []
synonym: "Not4Curation" RELATED []
xref: EFO:0004344
xref: MESH:D001724
is_a: DOID:9007633 ! Body Weight

[Term]
id: DOID:9003997
name: Familial Idiopathic Inflammatory Myopathy
alt_id: MIM:160750
alt_id: RDO:0016019
synonym: "Idiopathic myopathy" EXACT []
xref: MESH:C000598744
is_a: DOID:633 ! myositis

[Term]
id: DOID:9003998
name: Platelet Aggregation, Spontaneous
alt_id: MIM:173400
xref: MESH:C566800
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:9003999
name: Femur Fibula Ulna Syndrome
alt_id: MIM:228200
synonym: "FFU syndrome" EXACT []
xref: MESH:C537918
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004000
name: Senior-Loken Syndrome 7
synonym: "SDCCAG8-RELATED CONDITION" BROAD []
synonym: "SLSN7" EXACT []
xref: MIM:613615
is_a: DOID:0050576 ! Senior-Loken syndrome
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:9004001
name: Facial Nerve Injuries
def: "Traumatic injuries to the facial nerve. This may result in FACIAL PARALYSIS, decreased lacrimation and salivation, and loss of taste sensation in the anterior tongue. The nerve may regenerate and reform its original pattern of innervation, or regenerate aberrantly, resulting in inappropriate lacrimation in response to gustatory stimuli (e.g., 'crocodile tears') and other syndromes." [MESH:D020220]
synonym: "Cranial Nerve VII Injuries" EXACT []
synonym: "Facial Nerve Avulsion" EXACT []
synonym: "Facial Nerve Avulsions" EXACT []
synonym: "Facial Nerve Injury" EXACT []
synonym: "Facial Nerve Trauma" EXACT []
synonym: "Facial Nerve Traumas" EXACT []
synonym: "Seventh Cranial Nerve Injuries" EXACT []
synonym: "Traumatic Facial Neuropathies" EXACT []
synonym: "Traumatic Facial Neuropathy" EXACT []
xref: MESH:D020220
xref: RDO:0007357
is_a: DOID:1756 ! facial nerve disease
is_a: DOID:9000598 ! Cranial Nerve Injuries

[Term]
id: DOID:9004002
name: Short QT Syndrome 7
def: "A syndrome characterized by a corrected QT interval of 370 ms or less and a J-point to T-peak less than 140 ms. Caused by heterozygous mutation in the SLC4A3 gene on chromosome 2q35." [MIM:620231]
synonym: "SLC4A3-RELATED CONDITION" EXACT []
synonym: "SQT7" EXACT []
xref: MIM:620231
is_a: DOID:0050793 ! short QT syndrome
created_by: mtutaj
creation_date: 2023-02-02T09:32:47Z

[Term]
id: DOID:9004003
name: Tooth Demineralization
def: "A tooth's loss of minerals, such as calcium in hydroxyapatite from the tooth matrix, caused by acidic exposure. An example of the occurrence of demineralization is in the formation of dental caries." [MESH:D017001]
synonym: "Tooth Hypomineralization" EXACT []
synonym: "Tooth Hypomineralizations" EXACT []
xref: MESH:D017001
is_a: DOID:1091 ! tooth disease

[Term]
id: DOID:9004004
name: Water-Electrolyte Imbalance
def: "Disturbances in the body's WATER-ELECTROLYTE BALANCE." [MESH:D014883]
synonym: "Water-Electrolyte Imbalances" EXACT []
xref: MESH:D014883
xref: RDO:0005318
is_a: DOID:0014667 ! disease of metabolism

[Term]
id: DOID:9004005
name: Familial Ossicular Malformations
alt_id: MIM:165680
synonym: "Familial middle ear ossicular anomalies" EXACT []
xref: MESH:C537142
is_a: DOID:9002500 ! Hearing Disorders

[Term]
id: DOID:9004006
name: Chondrodysplasia Punctata, Tibia-Metacarpal Type
alt_id: MIM:118651
alt_id: RDO:0012451
synonym: "chondrodysplasia punctata, MT type" EXACT []
xref: MESH:C562961
is_a: DOID:0060293 ! autosomal dominant chondrodysplasia punctata

[Term]
id: DOID:9004007
name: Nabais Sa-de Vries Syndrome, Type 2
synonym: "NEDMACE" EXACT []
synonym: "neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies" EXACT []
synonym: "NSDVS2" EXACT []
xref: MIM:618829
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2020-05-15T14:46:50Z

[Term]
id: DOID:9004009
name: Reperfusion Injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (REPERFUSION), including swelling; HEMORRHAGE; NECROSIS; and damage from FREE RADICALS. The most common instance is MYOCARDIAL REPERFUSION INJURY." [MESH:D015427]
synonym: "Ischemia-Reperfusion Injuries" EXACT []
synonym: "Ischemia Reperfusion Injury" EXACT []
synonym: "Reperfusion Damage" EXACT []
synonym: "Reperfusion Damages" EXACT []
synonym: "Reperfusion Injuries" EXACT []
xref: EFO:0002687
xref: MESH:D015427
is_a: DOID:0060158 ! acquired metabolic disease
is_a: DOID:178 ! vascular disease
is_a: DOID:326 ! ischemia
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9004011
name: Autosomal Dominant Intellectual Developmental Disorder 71
def: "A neurodevelopmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development, caused by heterozygous mutation in the RFX7 gene on chromosome 15q21." [MIM:620330]
synonym: "Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities" EXACT []
synonym: "MRD71" EXACT []
xref: MIM:620330
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2023-04-21T09:20:19Z

[Term]
id: DOID:9004012
name: Nervous System Lead Poisoning, Adult
def: "Neurologic conditions in adults associated with acute or chronic exposure to lead or any of its salts. The most common lead related neurologic syndrome in adults consists of a polyneuropathy involving motor fibers. This tends to affect distal nerves and may present as wrist drop due to RADIAL NEUROPATHY. Additional features of chronic lead exposure include ANEMIA; CONSTIPATION; colicky abdominal pain; a bluish lead line of the gums; interstitial nephritis (NEPHRITIS, INTERSTITIAL); and saturnine gout. An encephalopathy may rarely occur. (From Adams et al., Principles of Neurology, 6th ed, p1212)" [MESH:D020265]
synonym: "Adult Neurologic Saturnism" EXACT []
synonym: "Lead Induced Nervous System Diseases, Adult" EXACT []
synonym: "Lead-Induced Polyneuropathies" EXACT []
synonym: "Lead Induced Polyneuropathy" EXACT []
synonym: "Lead Polyneuropathy" EXACT []
synonym: "Nervous System Toxicity, Lead, Adult" EXACT []
synonym: "Neurologic Lead Poisoning, Adult" EXACT []
synonym: "Neurologic Plumbism, Adult" EXACT []
synonym: "Neurotoxicity Syndrome, Lead, Adult" EXACT []
xref: MESH:D020265
is_a: DOID:9007159 ! Nervous System Lead Poisoning

[Term]
id: DOID:9004013
name: Aplasia or Hypoplasia of Breasts and/or Nipples 1
alt_id: MIM:113700
synonym: "BNAH1" EXACT []
xref: MESH:C535565
is_a: DOID:9000865 ! Amastia

[Term]
id: DOID:9004014
name: Adducted Thumbs Syndrome
alt_id: MIM:201550
alt_id: MIM:314100
synonym: "congenital clasped thumbs" EXACT []
xref: MESH:C562949
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004015
name: Stevenson-Carey Syndrome
alt_id: MIM:611961
xref: MESH:C567446
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004016
name: Wiskott-Aldrich Syndrome 2
synonym: "WAS2" EXACT []
synonym: "WIPF1 DEFICIENCY" EXACT []
xref: MIM:614493
xref: RDO:9000858
is_a: DOID:9169 ! Wiskott-Aldrich syndrome

[Term]
id: DOID:9004017
name: Chronic Hepatitis C
def: "INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS." [MESH:D019698]
xref: EFO:0004220
xref: MESH:D019698
is_a: DOID:1883 ! hepatitis C
is_a: DOID:9008510 ! Chronic Hepatitis

[Term]
id: DOID:9004018
name: Paraquat Lung
synonym: "Paraquat induced lung disease" EXACT []
xref: MESH:C537171
is_a: DOID:11396 ! pulmonary edema

[Term]
id: DOID:9004019
name: Panostotic Fibrous Dysplasia
xref: MESH:C537164
is_a: DOID:4971 ! myelofibrosis
is_a: DOID:9002278 ! Metabolic Bone Diseases
is_a: DOID:9008267 ! Fibrous Dysplasia of Bone

[Term]
id: DOID:9004020
name: Epidermodysplasia Verruciformis 1
synonym: "epidermodysplasia verruciformis, susceptibility to, 1" RELATED []
synonym: "EV1" EXACT []
synonym: "TMC6-RELATED CONDITION" EXACT []
xref: MIM:226400
is_a: DOID:13777 ! epidermodysplasia verruciformis
created_by: mtutaj
creation_date: 2020-02-14T15:52:36Z

[Term]
id: DOID:9004021
name: Corneal Dystrophy, Fuchs Endothelial, 5
alt_id: MIM:613269
synonym: "FCD3 locus" EXACT []
synonym: "FECD5" EXACT []
synonym: "Fuchs endothelial corneal dystrophy, late-onset" EXACT []
xref: MESH:C567676
is_a: DOID:11555 ! Fuchs' endothelial dystrophy

[Term]
id: DOID:9004023
name: Jagell Holmgren Hofer Syndrome
alt_id: MIM:242510
synonym: "ichthyosis alopecia eclabion ectropion mental retardation" EXACT []
synonym: "ichthyosis with alopecia, eclabion, ectropion, and mental retardation" EXACT []
xref: MESH:C537364
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1570 ! ectropion
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:9001018 ! Mouth Abnormalities
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9004024
name: Chromosome 1, Monosomy 1q32 q42
synonym: "Deletion 1q32 q42" EXACT []
synonym: "Monosomy 1q32 q42" EXACT []
xref: MESH:C537671
xref: RDO:0003551
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9004026
name: Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis
synonym: "DCWHKTA" EXACT []
synonym: "dilated cardiomyopathy with woolly hair, palmoplantar keratoderma, and tooth agenesis" EXACT []
xref: MIM:615821
is_a: DOID:0090128 ! Carvajal syndrome
is_a: DOID:13714 ! anodontia
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9004027
name: SUNCT Syndrome
def: "A primary headache disorder that is characterized by frequent short-lasting, unilateral, neuralgiform pain attacks in the ocular area, with CONJUNCTIVA fluid-filling and tearing. SUNCT syndrome is usually resistant to treatment." [MESH:D050798]
synonym: "SUNCT Syndromes" EXACT []
xref: MESH:D050798
is_a: DOID:225 ! syndrome
is_a: DOID:9006338 ! Trigeminal Autonomic Cephalalgias

[Term]
id: DOID:9004028
name: Alice in Wonderland Syndrome
def: "Neurological condition characterized by disturbances in VISUAL PERCEPTION, most often of BODY SCHEMA, TIME PERCEPTION and HALLUCINATIONS. It is associated with MIGRAINE, infections (e.g., INFECTIOUS MONONUCLEOSIS), FEVER, EPILEPSY, and other neurological and psychiatric disorders." [MESH:D062026]
xref: MESH:D062026
is_a: DOID:225 ! syndrome
is_a: DOID:6364 ! migraine
is_a: DOID:9000343 ! Vision Disorders
is_a: DOID:9004523 ! Perceptual Disorders

[Term]
id: DOID:9004029
name: Peroxisome Biogenesis Disorder, Complementation Group 9
xref: MESH:C566387
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9004030
name: Pituitary Stalk Interruption Syndrome
def: "Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. (MedGen)" []
synonym: "Ectopic neurohypophysis" NARROW []
synonym: "EPP" NARROW []
synonym: "PSIS" EXACT []
is_a: DOID:225 ! syndrome
is_a: DOID:53 ! pituitary gland disease
created_by: rgd
creation_date: 2016-01-14T00:00:00Z

[Term]
id: DOID:9004031
name: Anomalous Coracoclavicular Joint
alt_id: MIM:121350
xref: MESH:C565161
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:9004032
name: HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT
synonym: "DNAJC12-RELATED CONDITION" EXACT []
synonym: "HPANBH4" EXACT []
xref: MIM:617384
xref: NCI:C159654
is_a: DOID:9281 ! phenylketonuria

[Term]
id: DOID:9004033
name: Distal Myopathy 6
synonym: "adult onset distal myopathy 6" EXACT []
synonym: "autosomal dominant adult-onset distal myopathy 6" EXACT []
synonym: "MPD6" EXACT []
xref: MIM:618655
xref: MONDO:0032853
is_a: DOID:11720 ! distal myopathy
created_by: mtutaj
creation_date: 2019-11-11T09:13:46Z

[Term]
id: DOID:9004034
name: Alacrima
xref: MESH:C562827
is_a: DOID:1400 ! lacrimal apparatus disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9004035
name: Segawa Syndrome, Autosomal Recessive
alt_id: MIM:605407
synonym: "Dopa-Responsive Dystonia, Autosomal Recessive" EXACT []
synonym: "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive" EXACT []
synonym: "infantile parkinsonism, autosomal recessive" EXACT []
synonym: "Th-Deficient Drd" EXACT []
synonym: "tyrosine hydroxylase deficiency" EXACT []
xref: MESH:C537537
xref: NCI:C157158
is_a: DOID:543 ! dystonia

[Term]
id: DOID:9004036
name: Superinfection
def: "A frequent complication of drug therapy for microbial infection. It may result from opportunistic colonization following immunosuppression by the primary pathogen and can be influenced by the time interval between infections, microbial physiology, or host resistance. Experimental challenge and in vitro models are sometimes used in virulence and infectivity studies." [MESH:D015163]
synonym: "Microbial Superinvasion" EXACT []
synonym: "Microbial Superinvasions" EXACT []
synonym: "Superinfections" EXACT []
xref: MESH:D015163
is_a: DOID:9002002 ! Opportunistic Infections

[Term]
id: DOID:9004037
name: Hemangiomas of Small Intestine
alt_id: MIM:140900
xref: MESH:C564201
is_a: DOID:255 ! hemangioma
is_a: DOID:9002245 ! Intestinal Neoplasms

[Term]
id: DOID:9004038
name: Kashin-Beck Disease
def: "Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." [MESH:D057767]
xref: EFO:0006511
xref: MESH:D057767
xref: RDO:0007791
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9004039
name: Marfan Syndrome Type 2
synonym: "Marfan like connective tissue disorder" EXACT []
is_a: DOID:14323 ! Marfan syndrome

[Term]
id: DOID:9004040
name: Parasomnias
def: "Movements or behaviors associated with sleep, sleep stages, or partial arousals from sleep that may impair sleep maintenance. Parasomnias are generally divided into four groups: arousal disorders, sleep-wake transition disorders, parasomnias of REM sleep, and nonspecific parasomnias. (From Thorpy, Sleep Disorders Medicine, 1994, p191)" [MESH:D020447]
synonym: "Benign Neonatal Sleep Myoclonus" EXACT []
synonym: "Parasomnia" EXACT []
synonym: "Sleep Drunkenness" EXACT []
synonym: "Sleep Drunkennesses" EXACT []
synonym: "Sleep Related Abnormal Swallowing Syndrome" EXACT []
synonym: "Sleep Sensory Paroxysm" EXACT []
synonym: "Sleep Sensory Paroxysms" EXACT []
xref: MESH:D020447
is_a: DOID:535 ! sleep disorder

[Term]
id: DOID:9004041
name: Mucolipidosis III Alpha Beta, Atypical
xref: MESH:C567099
is_a: DOID:0080071 ! mucolipidosis III alpha/beta

[Term]
id: DOID:9004042
name: Olfaction Disorders
def: "Loss of or impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions." [MESH:D000857]
synonym: "Anosmia" EXACT []
synonym: "Cacosmia" EXACT []
synonym: "Cacosmias" EXACT []
synonym: "Dysosmia" EXACT []
synonym: "Dysosmias" EXACT []
synonym: "Olfaction Disorder" EXACT []
synonym: "Paraosmia" EXACT []
synonym: "Paraosmias" EXACT []
synonym: "Smell Disorder" EXACT []
synonym: "Smell Disorders" EXACT []
xref: MESH:D000857
xref: RDO:0001237
is_a: DOID:0050155 ! sensory system disease

[Term]
id: DOID:9004043
name: Seckel Like Syndrome Type Buebel
xref: MESH:C537532
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004044
name: Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly
alt_id: MIM:186550
def: "Liebenberg syndrome is an upper limb malformation characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation. LBNBG, or carpal synostosis with dysplastic elbow joints and brachydactyly, is caused by genomic rearrangement resulting in misexpression of the PITX1 gene on chromosome 5q31. (OMIM)" []
synonym: "Brachydactyly with Joint Dysplasia" EXACT []
synonym: "LBNBG" EXACT []
synonym: "Liebenberg Syndrome" EXACT []
xref: MESH:C566090
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:11971 ! synostosis
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9004045
name: Frontoocular Syndrome
alt_id: MIM:605321
xref: MESH:C565340
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004046
name: Microcephaly-Capillary Malformation Syndrome
synonym: "MICCAP" EXACT []
synonym: "STAMBP-RELATED CONDITION" EXACT []
xref: MIM:614261
xref: NCI:C192098
is_a: DOID:10907 ! microcephaly
is_a: DOID:11294 ! arteriovenous malformation
is_a: DOID:225 ! syndrome
is_a: DOID:9003191 ! Vascular Malformations

[Term]
id: DOID:9004047
name: Transient Neonatal Hyperparathyroidism
def: "A disease characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally." [MIM:618188]
synonym: "HRPTTN" EXACT []
xref: MIM:618188
is_a: DOID:13543 ! hyperparathyroidism
created_by: slaulede
creation_date: 2019-01-14T17:29:03Z

[Term]
id: DOID:9004048
name: X-Linked Mental Retardation with Isolated Growth Hormone Deficiency
synonym: "X-linked mental retardation with growth hormone deficiency" EXACT []
xref: MESH:C564712
is_a: DOID:0060870 ! isolated growth hormone deficiency
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9004051
name: Deafness, Neurosensory, Autosomal Recessive 47
xref: MESH:C538205
is_a: DOID:0060140 ! cortical deafness

[Term]
id: DOID:9004052
name: Chromosome 22, Trisomy
synonym: "Duplication 22" EXACT []
synonym: "Trisomy 22" EXACT []
xref: MESH:C536799
xref: NCI:C114765
xref: RDO:0002490
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9004053
name: Autosomal Dominant Auditory Neuropathy 2
def: "A disease characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. Caused by heterozygous mutation in the ATP11A gene on chromosome 13q34." [MIM:620384]
synonym: "AUNA2" EXACT []
xref: MIM:620384
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
is_a: DOID:9001890 ! Auditory Neuropathy
created_by: mtutaj
creation_date: 2023-05-30T15:40:40Z

[Term]
id: DOID:9004054
name: Hooft Disease
alt_id: MIM:236300
xref: MESH:C535329
is_a: DOID:1059 ! intellectual disability
is_a: DOID:4123 ! nail disease
is_a: DOID:9003370 ! Dyslipidemias
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9006976 ! Erythema

[Term]
id: DOID:9004055
name: Fungal Keratitis
def: "Fungal infection of the cornea which can follow from an injury or from wearing contact lenses. It usually develops very quickly, and if left untreated, can cause blindness." []
synonym: "fungal infection of cornea" EXACT []
synonym: "keratomycosis" EXACT []
synonym: "mycotic keratitis" EXACT []
is_a: DOID:4677 ! keratitis
is_a: DOID:9001949 ! Fungal Eye Infections

[Term]
id: DOID:9004056
name: pemphigus erythematosus
def: "This is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed." [ORPHA:79480]
synonym: "seborrheic pemphigoid" EXACT []
synonym: "seborrheic pemphigus" EXACT []
synonym: "Senear-Usher syndrome" EXACT []
xref: EFO:0008603
is_a: DOID:9182 ! pemphigus
created_by: slaulede
creation_date: 2023-02-02T14:30:38Z

[Term]
id: DOID:9004057
name: Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
alt_id: MIM:227250
xref: MESH:C565580
is_a: DOID:1059 ! intellectual disability
is_a: DOID:4667 ! kyphosis
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9003816 ! Macrocephaly

[Term]
id: DOID:9004058
name: Immunodeficiency 98 with Autoinflammation, X-Linked
def: "Characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Caused by hemizygous mutation in the TLR8 gene on chromosome Xp22." []
synonym: "IMD98" EXACT []
synonym: "inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8" EXACT []
synonym: "INFLTR8" EXACT []
xref: MIM:301078
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: mtutaj
creation_date: 2022-04-22T10:03:23Z

[Term]
id: DOID:9004059
name: Eye Neoplasms
def: "Tumors or cancer of the EYE." [MESH:D005134]
synonym: "eye neoplasm" EXACT []
synonym: "Melanocytoma of the Eyeball" NARROW []
synonym: "neoplasm of eye" EXACT []
synonym: "neoplasm of eye proper" EXACT []
synonym: "ocular tumor" EXACT []
xref: EFO:0003824
xref: EFO:1000369
xref: MESH:D005134
is_a: DOID:5614 ! eye disease
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:9004060
name: Tetrasomy
def: "The possession of four chromosomes of any one type in an otherwise diploid cell." [MESH:D058670]
synonym: "Partial Tetrasomies" EXACT []
synonym: "Partial Tetrasomy" EXACT []
synonym: "Tetrasomies" EXACT []
xref: MESH:D058670
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:9008692 ! Aneuploidy

[Term]
id: DOID:9004061
name: Abnormalities, Severe Teratoid
def: "Marked developmental anomalies of a fetus or infant." [MESH:D009008]
synonym: "Severe Teratoid Abnormality" EXACT []
xref: MESH:D009008
xref: RDO:0004840
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9004062
name: Hyperhidrosis
def: "Excessive sweating. In the localized type, the most frequent sites are the palms, soles, axillae, inguinal folds, and the perineal area. Its chief cause is thought to be emotional. Generalized hyperhidrosis may be induced by a hot, humid environment, by fever, or by vigorous exercise." [MESH:D006945]
xref: MESH:D006945
is_a: DOID:1383 ! sweat gland disease

[Term]
id: DOID:9004063
name: Berk-Tabatznik Syndrome
synonym: "Cleft nare, brachydactyly, short stature-dwarfism" EXACT []
synonym: "Congenital optic atrophy and brachytelephalangy" EXACT []
synonym: "Kyphosis brachyphalangy optic atrophy" EXACT []
xref: MESH:C535432
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9005850 ! Hereditary Optic Atrophies
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9004064
name: Ephemeral Fever
def: "An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (EPHEMERAL FEVER VIRUS, BOVINE). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness." [MESH:D004810]
synonym: "Three Day Sickness" EXACT []
xref: EFO:0007258
xref: MESH:D004810
xref: RDO:0005502
is_a: DOID:9004723 ! Cattle Diseases
is_a: DOID:9008603 ! Rhabdoviridae Infections

[Term]
id: DOID:9004065
name: Leukoencephalopathy with Dystonia and Motor Neuropathy
alt_id: MIM:613724
alt_id: RDO:0009956
alt_id: RDO:0014956
synonym: "Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient" EXACT []
synonym: "LKDMN" EXACT []
synonym: "SCP2-RELATED CONDITION" EXACT []
synonym: "STEROL CARRIER PROTEIN 2 DEFICIENCY" EXACT []
xref: MESH:C566654
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:543 ! dystonia
is_a: DOID:9002704 ! Leukoencephalopathies

[Term]
id: DOID:9004066
name: Congenital Stationary Night Blindness 2B
synonym: "cone-rod synaptic disorder, congenital nonprogressive" EXACT []
synonym: "congenital stationary night blindness, incomplete, autosomal recessive" EXACT []
synonym: "congenital stationary night blindness, type 2B" EXACT []
synonym: "CRSD" EXACT []
synonym: "CSNB2B" EXACT []
xref: MIM:610427
is_a: DOID:0050534 ! congenital stationary night blindness

[Term]
id: DOID:9004067
name: Chilblain Lupus 2
synonym: "CHBL2" EXACT []
synonym: "SAMHD1-RELATED CONDITION" BROAD []
xref: MIM:614415
is_a: DOID:0060386 ! Chilblain lupus
is_a: DOID:9004248 ! Chilblains

[Term]
id: DOID:9004069
name: Pathologic Decalcification
def: "The loss of calcium salts from bones and teeth. Bacteria may be responsible for this occurrence in teeth. Old age may be a factor contributing to calcium loss, as is the presence of diseases such as rheumatoid arthritis." [MESH:D003649]
synonym: "Pathological Decalcification" EXACT []
xref: MESH:D003649
is_a: DOID:10575 ! calcium metabolism disease
is_a: DOID:9003519 ! Pathologic Bone Demineralization

[Term]
id: DOID:9004070
name: Townes-Brocks Syndrome 2
synonym: "TBS2" EXACT []
xref: MIM:617466
is_a: DOID:0050887 ! Townes-Brocks syndrome
created_by: rgd
creation_date: 2017-06-26T00:00:00Z

[Term]
id: DOID:9004071
name: Macrophagic Myofasciitis
synonym: "Macrophagic myofasciitis, childhood" EXACT []
xref: MESH:C537829
is_a: DOID:633 ! myositis
is_a: DOID:9598 ! fasciitis

[Term]
id: DOID:9004072
name: Richieri Costa Guion-Almeida Syndrome
alt_id: MIM:268850
synonym: "Acrofacial dysostosis Richieri Costa Guion-Almeida type" EXACT []
synonym: "Richieri-Costa Guion-Almeida Cohen syndrome" EXACT []
synonym: "Richieri Costa Guion-Almeida dwarfism" EXACT []
synonym: "Sao Paulo MCA/MR syndrome" EXACT []
synonym: "short stature, mental retardation, eye anomalies, and cleft lip/palate" EXACT []
xref: MESH:C535676
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:9004073
name: limb injury
def: "This is an injury to an arm, leg, wing, or otherwise modified appendage." [https://www.merriam-webster.com]
synonym: "limb injuries" EXACT []
xref: EFO:0009509
is_a: DOID:9001600 ! Wounds and Injuries
created_by: slaulede
creation_date: 2023-01-13T10:50:42Z

[Term]
id: DOID:9004074
name: Triglyceride Storage Disease, Type II
alt_id: MIM:190430
xref: MESH:C566030
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:9004075
name: Mental Retardation Smith Fineman Myers Type
synonym: "Smith Fineman Myers syndrome" EXACT []
xref: MESH:C537445
is_a: DOID:1059 ! intellectual disability

[Term]
id: DOID:9004076
name: Sinus Tarsi Syndrome
xref: MESH:C000604661
is_a: DOID:225 ! syndrome
is_a: DOID:9007310 ! Foot Diseases

[Term]
id: DOID:9004077
name: SHONE COMPLEX
def: "Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated." []
synonym: "SHONE SYNDROME" EXACT []
xref: ORPHA:99063
is_a: DOID:5805 ! subvalvular aortic stenosis
is_a: DOID:61 ! mitral valve disease
is_a: DOID:9007908 ! Aortic Coarctation
created_by: slaulede
creation_date: 2018-10-11T18:35:00Z

[Term]
id: DOID:9004078
name: Pancreatic Intraepithelial Neoplasia
def: "A histologically well-defined precursor to invasive ductal adenocarcinoma of the pancreas." []
synonym: "PanIN" EXACT []
xref: RDO:9000688
is_a: DOID:1793 ! pancreatic cancer

[Term]
id: DOID:9004079
name: Angiomatosis
def: "A condition with multiple tumor-like lesions caused either by congenital or developmental malformations of BLOOD VESSELS, or reactive vascular proliferations, such as in bacillary angiomatosis. Angiomatosis is considered non-neoplastic." [MESH:D000798]
synonym: "Angiomatoses" EXACT []
xref: MESH:D000798
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:9004080
name: Aortic Rupture
def: "The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA." [MESH:D001019]
synonym: "Aortic Ruptures" EXACT []
synonym: "Ruptured Aortic Aneurysm" EXACT []
synonym: "Ruptured Aortic Aneurysms" EXACT []
xref: EFO:1001268
xref: MESH:D001019
is_a: DOID:3627 ! aortic aneurysm
is_a: DOID:9000768 ! Ruptured Aneurysm
is_a: DOID:9005630 ! Rupture

[Term]
id: DOID:9004081
name: Oculotrichodysplasia
alt_id: MIM:257960
xref: MESH:C564934
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:421 ! hair disease
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9004082
name: Mesenteric Ischemia
def: "Ischemic tissue injury produced by insufficient perfusion of intestinal tissue by the MESENTERIC CIRCULATION (i.e., CELIAC ARTERY; SUPERIOR MESENTERIC ARTERY; INFERERIOR MESENTERIC ARTERY; and MESENTERIC VEINS). It can progress from ISCHEMIA; EDEMA; and GANGRENE of the bowel wall to PERITONITIS and cardiovascular collapse." [MESH:D065666]
synonym: "Acute Mesenteric Arterial Embolus" EXACT []
synonym: "Acute Mesenteric Arterial Thrombosis" EXACT []
synonym: "Mesenteric Ischemias" EXACT []
synonym: "Mesenteric Vascular Insufficiencies" EXACT []
synonym: "Mesenteric Vascular Insufficiency" EXACT []
synonym: "Mesenteric Venous Thromboses" EXACT []
synonym: "Mesenteric Venous Thrombosis" EXACT []
synonym: "Nonocclusive Mesenteric Ischemia" EXACT []
synonym: "Nonocclusive Mesenteric Ischemias" EXACT []
synonym: "Occlusive Mesenteric Arterial Ischemia" EXACT []
xref: MESH:D065666
is_a: DOID:178 ! vascular disease
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9006175 ! Peritoneal Diseases

[Term]
id: DOID:9004083
name: Familial Pancreatic Carcinoma
xref: MESH:C535837
is_a: DOID:1793 ! pancreatic cancer
is_a: DOID:305 ! carcinoma

[Term]
id: DOID:9004084
name: Chromosome 11, Partial Trisomy 11q
synonym: "11q Partial Trisomy" EXACT []
synonym: "Chromosome 11, Partial Trisomy 11q13-qter" EXACT []
synonym: "Chromosome 11, Partial Trisomy 11q21-qter" EXACT []
synonym: "Chromosome 11, Partial Trisomy 11q23-qter" EXACT []
synonym: "Distal Trisomy 11q" EXACT []
xref: MESH:C538294
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9004086
name: AIDS Dementia Complex
def: "A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)" [MESH:D015526]
synonym: "Acquired-Immune Deficiency Syndrome Dementia Complex" EXACT []
synonym: "AIDS dementia" EXACT []
synonym: "AIDS Encephalopathies" EXACT []
synonym: "AIDS Encephalopathy" EXACT []
synonym: "AIDS Related Dementia Complex" EXACT []
synonym: "HAND" EXACT []
synonym: "HIV 1 Associated Cognitive Motor Complex" EXACT []
synonym: "HIV 1 Cognitive and Motor Complex" EXACT []
synonym: "HIV Associated Cognitive Motor Complex" EXACT []
synonym: "HIV-associated neurocognitive disorders" EXACT []
synonym: "HIV Dementia" EXACT []
synonym: "HIV Dementias" EXACT []
synonym: "HIV Encephalopathies" EXACT []
synonym: "HIV Encephalopathy" EXACT []
xref: EFO:0002608
xref: EFO:0007948
xref: MESH:D015526
is_a: DOID:1307 ! dementia
is_a: DOID:635 ! acquired immunodeficiency syndrome

[Term]
id: DOID:9004087
name: Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly
xref: MESH:C566119
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:13994 ! cleidocranial dysplasia

[Term]
id: DOID:9004088
name: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
def: "This disease is an autosomal recessive multiple congenital anomaly syndrome characterized by mild to moderate intellectual disability, dysmorphic facial features, intention tremor, dyspraxia, and vertical strabismus ." [MIM:619995]
synonym: "NEDITPO" EXACT []
xref: MIM:619995
is_a: DOID:0060135 ! apraxia
is_a: DOID:9000495 ! Tremor
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008296 ! Eye Abnormalities
created_by: slaulede
creation_date: 2022-12-15T10:02:49Z

[Term]
id: DOID:9004090
name: Tufted Angioma
alt_id: MIM:607859
xref: MESH:C536924
is_a: DOID:255 ! hemangioma
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:9004091
name: Osteophytes
alt_id: RDO:0007689
def: "Bony outgrowth usually found around joints and often seen in conditions such as ARTHRITIS." [MESH:D054850]
synonym: "bone spur" EXACT []
synonym: "bone spurs" EXACT []
synonym: "osteophyte" EXACT []
xref: MESH:D054850
is_a: DOID:203 ! exostosis

[Term]
id: DOID:9004092
name: cryoglobulinemic vasculitis
def: "A complication of cryoglobulinemia that includes a large spectrum of symptoms, ranging in severity from mild sporadic purpura to damage and inflammation of the blood vessels throughout the body (vasculitis)." [https://medlineplus.gov/ency/article/000540.htm "MedlinePlus", PMID:26219420]
synonym: "cryoglobulinemia vasculitis" EXACT []
xref: https://medlineplus.gov/ency/article/000540.htm
xref: PMID:26219420
is_a: DOID:2917 ! cryoglobulinemia
is_a: DOID:865 ! vasculitis
created_by: slaulede
creation_date: 2020-06-15T13:53:46Z

[Term]
id: DOID:9004093
name: Laryngeal Atresia, Encephalocele, and Limb Deformities
alt_id: MIM:607132
xref: MESH:C564620
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9000983 ! Encephalocele
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9004094
name: Bangstad Syndrome
alt_id: MIM:210740
synonym: "BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCY" EXACT []
xref: MESH:C537902
is_a: DOID:12176 ! goiter
is_a: DOID:225 ! syndrome
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:9004095
name: Seres-Santamaria Arimany Muniz Syndrome
synonym: "Cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects" EXACT []
xref: MESH:C537585
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate

[Term]
id: DOID:9004096
name: Veno-Occlusive Disease
synonym: "venoocclusive disease" EXACT []
synonym: "venoocclusive disease after bone marrow transplantation, susceptibility to" NARROW []
xref: RDO:9000761
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:9004097
name: Marfanoid Hypermobility Syndrome
alt_id: MIM:154750
synonym: "Marfan syndrome type 1" EXACT []
xref: MESH:C531742
is_a: DOID:14323 ! Marfan syndrome
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9004098
name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES
def: "This disease is a clinically heterogeneous disorder characterized by neurologic deficits and characteristic dysmorphic facial features apparent from infancy or early childhood." [MIM:620098]
synonym: "DIDDF" EXACT []
synonym: "JARID2-RELATED CONDITION" EXACT []
synonym: "JARID2-RELATED NEURODEVELOPMENTAL SYNDROME" EXACT []
xref: MIM:620098
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
created_by: slaulede
creation_date: 2023-02-16T09:22:14Z

[Term]
id: DOID:9004099
name: Bulimia
def: "Eating an excess amount of food in a short period of time, as seen in the disorder of BULIMIA NERVOSA. It is caused by an abnormal craving for food, or insatiable hunger also known as 'ox hunger'." [MESH:D002032]
synonym: "Binge Eating" EXACT []
synonym: "Bulimias" EXACT []
xref: EFO:0005924
xref: MESH:D002032
is_a: DOID:9002916 ! Hyperphagia

[Term]
id: DOID:9004100
name: Familial Atrial Fibrillation 14
synonym: "ATFB14" EXACT []
synonym: "SCN2B-RELATED CONDITION" EXACT []
xref: MIM:615378
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9004101
name: Autosomal Recessive Nonsyndromic Deafness 118
synonym: "autosomal recessive deafness 118, with cochlear aplasia" EXACT []
synonym: "DFNB118" EXACT []
xref: MIM:619553
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
created_by: mtutaj
creation_date: 2021-10-01T13:27:32Z

[Term]
id: DOID:9004102
name: Duane Retraction Syndrome 1
synonym: "Duane retraction syndrome type 1" EXACT []
synonym: "Duane syndrome type 1" EXACT []
synonym: "DURS1" EXACT []
xref: MIM:126800
is_a: DOID:12557 ! Duane retraction syndrome
created_by: mtutaj
creation_date: 2020-03-02T08:42:31Z

[Term]
id: DOID:9004103
name: Lymphatic Malformation 11
def: "Characterized by lower extremity edema, with onset in the second or third decade of life. Caused by heterozygous mutation in the TIE1 gene on chromosome 1p34. (OMIM)" []
synonym: "LMPHM11" EXACT []
xref: MIM:619401
is_a: DOID:0050580 ! hereditary lymphedema
created_by: mtutaj
creation_date: 2021-06-25T15:35:37Z

[Term]
id: DOID:9004104
name: Tooth Wear
def: "Loss of the tooth substance by chemical or mechanical processes" [MESH:D057085]
synonym: "Dental Wear" EXACT []
synonym: "Dental Wears" EXACT []
synonym: "Tooth Wears" EXACT []
xref: MESH:D057085
is_a: DOID:1091 ! tooth disease

[Term]
id: DOID:9004105
name: Symphalangism, C. S. Lewis Type
alt_id: MIM:185650
synonym: "stiff thumbs" EXACT []
xref: MESH:C566100
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9004106
name: White Heifer Disease
def: "A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of CATTLE, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile." [MESH:D050072]
xref: MESH:D050072
xref: MONDO:0025163
is_a: DOID:9004723 ! Cattle Diseases

[Term]
id: DOID:9004107
name: Morillo-Cucci Passarge Syndrome
xref: MESH:C536983
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:381 ! arthropathy
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004108
name: Fused Kidney
def: "Congenital fusion of two kidneys." [MESH:D000069337]
synonym: "Cake Kidney" EXACT []
synonym: "Cake Kidneys" EXACT []
synonym: "Congenital Fusion of Kidneys" EXACT []
synonym: "Congenital Lobulation of Kidneys" EXACT []
synonym: "Crossed Fused Ectopia" EXACT []
synonym: "Crossed Fused Ectopia of Kidneys" EXACT []
synonym: "Crossed Fused Ectopias" EXACT []
synonym: "Fused Kidneys" EXACT []
synonym: "Fusion of Kidney" EXACT []
synonym: "Horseshoe Kidney" EXACT []
synonym: "Horseshoe Kidneys" EXACT []
synonym: "Kidney Fusion" EXACT []
synonym: "Kidney Fusions" EXACT []
synonym: "Kidney Lobulation" EXACT []
synonym: "Kidney Lobulations" EXACT []
synonym: "Lobulated Kidney" EXACT []
synonym: "Lobulated Kidneys" EXACT []
synonym: "Lobulation of Kidney" EXACT []
synonym: "Pelvic Cake Kidney" EXACT []
synonym: "Pelvic Cake Kidneys" EXACT []
synonym: "Renal Fusion" EXACT []
synonym: "Renal Fusions" EXACT []
xref: MESH:D000069337
xref: RDO:0015996
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:9004109
name: Intestinal Carcinoid Tumors
alt_id: MIM:114900
synonym: "Ascending Colon Neuroendocrine Tumor G1" NARROW []
synonym: "Ileal Neuroendocrine Tumor G1" NARROW []
xref: EFO:1000094
xref: EFO:1000300
xref: MESH:C562842
is_a: DOID:9002245 ! Intestinal Neoplasms
is_a: DOID:9007787 ! Carcinoid Tumor

[Term]
id: DOID:9004110
name: Traumatic Dental Occlusion
def: "An occlusion resulting in overstrain and injury to teeth, periodontal tissue, or other oral structures." [MESH:D003769]
synonym: "Traumatic Dental Occlusions" EXACT []
xref: MESH:D003769
is_a: DOID:9000121 ! Malocclusion

[Term]
id: DOID:9004111
name: Polyasplenia
synonym: "Asplenia with Cardiovascular Abnormalities" EXACT []
xref: MESH:C566862
xref: RDO:0015083
is_a: DOID:0050545 ! visceral heterotaxy
is_a: DOID:2529 ! splenic disease

[Term]
id: DOID:9004112
name: Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome
alt_id: MIM:213010
xref: MESH:C565867
is_a: DOID:0080322 ! polycystic kidney disease
is_a: DOID:1088 ! meningocele
is_a: DOID:14692 ! Smith-Lemli-Opitz syndrome
is_a: DOID:225 ! syndrome
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:9000983 ! Encephalocele

[Term]
id: DOID:9004113
name: Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality
alt_id: MIM:225310
synonym: "EDS 10" EXACT []
synonym: "EDS X" EXACT []
synonym: "Ehlers-Danlos Syndrome, Dysfibronectinemic Type" EXACT []
synonym: "Ehlers-Danlos Syndrome, Type X" EXACT []
xref: MESH:C565600
is_a: DOID:13359 ! Ehlers-Danlos syndrome
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:9004114
name: Ophthalmomandibulomelic Dysplasia
alt_id: MIM:164900
synonym: "OMM syndrome" EXACT []
synonym: "Pillay syndrome" EXACT []
xref: MESH:C563501
xref: ORDO:2741
is_a: DOID:9000066 ! Jaw Abnormalities
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9004402 ! Congenital Upper Extremity Deformities

[Term]
id: DOID:9004115
name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
def: "This disease is a severe autosomal recessive disorder characterized by failure to thrive in infancy, global developmental delay, hypotonia, motor abnormalities with inability to walk, involuntary movements, impaired intellectual development, absent speech, seizures, and structural brain abnormalities." [MIM:620732]
synonym: "NEDMSB" EXACT []
xref: MIM:620732
is_a: DOID:1826 ! epilepsy
is_a: DOID:9002362 ! Hyperkinesis
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006534 ! Nervous System Malformations
created_by: slaulederkind
creation_date: 2024-05-24T13:12:42Z

[Term]
id: DOID:9004116
name: Rett Syndrome, Preserved Speech Variant
xref: MESH:C564063
is_a: DOID:1206 ! Rett syndrome

[Term]
id: DOID:9004117
name: COD (Cerebroocular Dysgenesis)
xref: MESH:C535631
xref: RDO:0000861
is_a: DOID:0050560 ! Walker-Warburg syndrome

[Term]
id: DOID:9004118
name: Experimental Melanoma
def: "Experimentally induced tumor that produces MELANIN in animals to provide a model for studying human MELANOMA." [MESH:D008546]
synonym: "B16 Melanoma" EXACT []
synonym: "B16 Melanomas" EXACT []
synonym: "Cloudman S91 Melanoma" EXACT []
synonym: "Experimental Melanomas" EXACT []
synonym: "Harding Passey Melanoma" EXACT []
xref: MESH:D008546
is_a: DOID:1909 ! melanoma
is_a: DOID:9002170 ! Experimental Neoplasms

[Term]
id: DOID:9004119
name: Richieri Costa Pereira Syndrome
alt_id: MIM:268305
synonym: "RCPS" EXACT []
synonym: "Richieri-Costa and Pereira form of acrofacial dysostosis" EXACT []
synonym: "Robin sequence with cleft mandible and limb anomalies" EXACT []
xref: MESH:C535677
xref: RDO:0000932
is_a: DOID:11836 ! clubfoot
is_a: DOID:225 ! syndrome
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9004120
name: Alcohol Withdrawal Seizures
def: "A condition where seizures occur in association with ethanol abuse (ALCOHOLISM) without other identifiable causes. Seizures usually occur within the first 6-48 hours after the cessation of alcohol intake, but may occur during periods of alcohol intoxication. Single generalized tonic-clonic motor seizures are the most common subtype, however, STATUS EPILEPTICUS may occur. (Adams et al., Principles of Neurology, 6th ed, p1174)" [MESH:D020270]
synonym: "Alcoholic Seizure" EXACT []
synonym: "Alcoholic Seizures" EXACT []
synonym: "Alcohol Withdrawal Induced Major Motor Seizure" EXACT []
synonym: "Alcohol Withdrawal Induced Seizure" EXACT []
synonym: "Alcohol Withdrawal-Induced Seizures" EXACT []
synonym: "Alcohol Withdrawal Induced Status Epilepticus" EXACT []
synonym: "Alcohol Withdrawal Seizure" EXACT []
xref: MESH:D020270
is_a: DOID:1826 ! epilepsy
is_a: DOID:9002735 ! alcohol withdrawal syndrome
is_a: DOID:9007727 ! Alcohol-Induced Disorders, Nervous System

[Term]
id: DOID:9004121
name: Hand Deformities, Acquired
def: "Deformities of the hand, or a part of the hand, acquired after birth as the result of injury or disease." [MESH:D006227]
synonym: "Acquired Hand Deformity" EXACT []
xref: MESH:D006227
xref: RDO:0005712
is_a: DOID:9008871 ! Hand Deformities

[Term]
id: DOID:9004122
name: Focal Facial Dermal Dysplasia 2
synonym: "Brauer-Setleis syndrome" EXACT []
synonym: "FFDD2" EXACT []
synonym: "focal facial dermal dysplasia 2, Brauer-Setleis type" EXACT []
xref: MIM:614973
is_a: DOID:9000745 ! Focal Facial Dermal Dysplasia
created_by: mtutaj
creation_date: 2021-12-08T14:40:44Z

[Term]
id: DOID:9004123
name: Beemer Ertbruggen Syndrome
alt_id: MIM:209970
synonym: "Beemer lethal malformation syndrome" EXACT []
synonym: "hydrocephalus, cardiac malformation, dense bones, genital anomalies, thrombocytopenia, and dysmorphic facies" EXACT []
xref: MESH:C537668
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9004124
name: Systemic Lupus Erythematosus with Nephritis
alt_id: MIM:607965
alt_id: MIM:607966
alt_id: MIM:607967
synonym: "SLEN1" RELATED []
synonym: "SLEN2" RELATED []
synonym: "SLEN3" RELATED []
synonym: "Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 1" RELATED []
synonym: "Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 2" RELATED []
synonym: "Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 3" RELATED []
is_a: DOID:10952 ! nephritis
is_a: DOID:9074 ! systemic lupus erythematosus

[Term]
id: DOID:9004125
name: Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas
alt_id: MIM:140850
synonym: "Cavernous Hemangiomas of Face and Supraumbilical Midline Raphe" EXACT []
synonym: "cavernous hemangiomas of face, supraumbilical midline raphe" EXACT []
synonym: "FACIAL HEMANGIOMA" NARROW []
synonym: "Raphe, supraumbilical midline, with cavernous facial hemangiomas" EXACT []
synonym: "Sternal nonunion with supraumbilical raphe" EXACT []
xref: MESH:C538144
is_a: DOID:483 ! cavernous hemangioma
is_a: DOID:9007009 ! Facial Neoplasms

[Term]
id: DOID:9004126
name: Hepadnaviridae Infections
def: "Virus diseases caused by the HEPADNAVIRIDAE." [MESH:D018347]
synonym: "Hepadnaviridae Infection" EXACT []
synonym: "Hepadnaviridae infectious disease" EXACT []
xref: EFO:0007301
xref: MESH:D018347
xref: RDO:0005778
is_a: DOID:9000251 ! DNA Virus Infections

[Term]
id: DOID:9004127
name: Corneal Dystrophy, Fuchs Endothelial, 4
alt_id: MIM:613268
synonym: "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET" EXACT []
synonym: "FECD4" EXACT []
xref: MESH:C567677
is_a: DOID:11555 ! Fuchs' endothelial dystrophy

[Term]
id: DOID:9004128
name: Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts
xref: MESH:C566997
xref: RDO:0015187
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9004129
name: Progressive External Ophthalmoplegia with Myoclonus
xref: RDO:9000754
is_a: DOID:12558 ! chronic progressive external ophthalmoplegia
is_a: DOID:9007722 ! Myoclonus

[Term]
id: DOID:9004130
name: Pharyngeal Diseases
def: "Pathological processes involving the PHARYNX." [MESH:D010608]
synonym: "diseases of pharynx" EXACT []
synonym: "disorder of pharynx" EXACT []
synonym: "pharyngeal disease" EXACT []
synonym: "pharynx disease" EXACT []
synonym: "pharynx diseases" EXACT []
xref: MESH:D010608
xref: MONDO:0020592
is_a: DOID:9001349 ! Stomatognathic Diseases
is_a: DOID:9007241 ! Otorhinolaryngologic Diseases

[Term]
id: DOID:9004131
name: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES
def: "This disease is an autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor speech acquisition apparent from infancy." [MIM:619989]
synonym: "NEDSOA" EXACT []
xref: MIM:619989
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:92 ! speech disorder
created_by: slaulede
creation_date: 2022-12-15T10:47:09Z

[Term]
id: DOID:9004132
name: Short Stature Syndrome, Brussels Type
alt_id: MIM:601350
synonym: "Mievis Verellen-Dumoulin syndrome" EXACT []
xref: MESH:C537121
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9004133
name: Tibial Meniscus Injuries
def: "Injuries to the TIBIAL MENISCUS of the leg." [MESH:D000070600]
synonym: "Bucket Handle Tear" EXACT []
synonym: "Bucket Handle Tears" EXACT []
synonym: "Flap Tear" EXACT []
synonym: "Flap Tears" EXACT []
synonym: "Tibial Meniscus Injury" EXACT []
synonym: "Tibial Meniscus Tear" EXACT []
synonym: "Tibial Meniscus Tears" EXACT []
synonym: "Torn Tibial Meniscus" EXACT []
xref: MESH:D000070600
is_a: DOID:9008911 ! Leg Injuries

[Term]
id: DOID:9004134
name: Cervical Rib Syndrome
alt_id: MIM:117900
def: "A condition associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the thoracic outlet and caused by a complete or incomplete anomalous CERVICAL RIB or fascial band connecting the tip of a cervical rib with the first thoracic rib. Clinical manifestations may include pain in the neck and shoulder which radiates into the upper extremity, PARESIS or PARALYSIS of brachial plexus innervated muscles; sensory loss; PARESTHESIAS; ISCHEMIA; and EDEMA. (Adams et al., Principles of Neurology, 6th ed, p214)" [MESH:D002573]
synonym: "Anomalous Cervical Rib Syndrome" EXACT []
synonym: "Cervical Rib Cervical Band Syndrome" EXACT []
synonym: "Cervical Rib Syndromes" EXACT []
synonym: "Naffziger's Syndrome" EXACT []
synonym: "Naffziger's Syndromes" EXACT []
synonym: "Naffziger Syndrome" EXACT []
synonym: "Naffziger Syndromes" EXACT []
xref: EFO:1000861
xref: MESH:D002573
is_a: DOID:225 ! syndrome
is_a: DOID:3103 ! thoracic outlet syndrome
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9004136
name: Cataplexy and Narcolepsy
def: "Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)." [ORPHA:2073]
synonym: "narcolepsy-cataplexy syndrome" EXACT []
synonym: "narcolepsy-cataplexy syndromes" EXACT []
synonym: "narcolepsy with cataplexy" EXACT []
xref: EFO:0000614
xref: MONDO:0016158
is_a: DOID:8986 ! narcolepsy
is_a: DOID:9002695 ! Cataplexy
created_by: slaulede
creation_date: 2019-07-01T11:47:25Z

[Term]
id: DOID:9004137
name: Bunyaviridae Infections
def: "Virus diseases caused by the BUNYAVIRIDAE." [MESH:D002044]
synonym: "Bunyaviridae Infection" EXACT []
synonym: "Bunyavirus Infection" EXACT []
synonym: "Bunyavirus Infections" EXACT []
xref: EFO:0007188
xref: MESH:D002044
xref: RDO:0005081
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:9004138
name: Spastic Paraplegia with Associated Extrapyramidal Signs
alt_id: MIM:182800
xref: MESH:C566681
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:679 ! basal ganglia disease

[Term]
id: DOID:9004139
name: Hemoptysis
def: "Expectoration or spitting of blood originating from any part of the RESPIRATORY TRACT, usually from hemorrhage in the lung parenchyma (PULMONARY ALVEOLI) and the BRONCHIAL ARTERIES." [MESH:D006469]
synonym: "Hemoptyses" EXACT []
xref: MESH:D006469
is_a: DOID:850 ! lung disease
is_a: DOID:9000575 ! Respiratory Signs and Symptoms
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9004140
name: Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal
xref: MESH:C566409
xref: MIM:603117
xref: MONDO:0011288
is_a: DOID:10907 ! microcephaly
is_a: DOID:14448 ! 46,XY sex reversal
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:9004141
name: Desmoplastic Fibroma
def: "A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)" [MESH:D018220]
synonym: "Desmoplastic Fibromas" EXACT []
xref: EFO:1001783
xref: MESH:D018220
is_a: DOID:0050871 ! fibroma

[Term]
id: DOID:9004142
name: Pyogenic Liver Abscesses
alt_id: RDO:0007529
def: "Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." [MESH:D046290]
synonym: "Pyogenic Hepatic Abscess" EXACT []
synonym: "Pyogenic Hepatic Abscesses" EXACT []
synonym: "pyogenic liver abscess" EXACT []
xref: EFO:1001836
xref: MESH:D046290
is_a: DOID:9002668 ! Liver Abscess

[Term]
id: DOID:9004143
name: X-Linked Hypogammaglobulinemia
xref: MESH:C562478
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:2583 ! agammaglobulinemia

[Term]
id: DOID:9004144
name: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS
def: "A disease characterized by male infertility due to obstruction at the head of the epididymis, as well as hypercalciuria and kidney stones." [MIM:301060]
synonym: "OAZON" EXACT []
synonym: "obstructive azoospermia with nephrolithiasis" EXACT []
xref: MIM:301060
is_a: DOID:14227 ! azoospermia
is_a: DOID:585 ! nephrolithiasis
created_by: slaulede
creation_date: 2021-04-06T17:46:48Z

[Term]
id: DOID:9004146
name: Flavivirus Infections
def: "Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE." [MESH:D018177]
synonym: "Flavivirus infection" EXACT []
synonym: "Flavivirus infectious disease" EXACT []
xref: EFO:1001326
xref: MESH:D018177
is_a: DOID:9008551 ! Flaviviridae Infections

[Term]
id: DOID:9004147
name: Anosmia
def: "Complete or severe loss of the subjective sense of smell. Loss of smell may be caused by many factors such as cold, allergy, OLFACTORY NERVE DISEASES; viral RESPIRATORY TRACT INFECTIONS (e.g., COVID-19), aging and various neurological disorders (e.g., ALZHEIMER DISEASE). (MESH)" []
synonym: "hyposmia" EXACT []
synonym: "loss of smell" EXACT []
xref: MESH:D000086582
is_a: DOID:9004042 ! Olfaction Disorders
created_by: mtutaj
creation_date: 2020-12-21T12:55:56Z

[Term]
id: DOID:9004148
name: Spondyloepiphyseal Dysplasia with Atlantoaxial Instability
alt_id: MIM:600561
xref: MESH:C563472
is_a: DOID:0112280 ! spondyloepiphyseal dysplasia
is_a: DOID:9005077 ! Joint Instability

[Term]
id: DOID:9004149
name: Preaxial Polydactyly III
alt_id: MIM:174600
synonym: "Index Finger Polydactyly" EXACT []
synonym: "PPD3" EXACT []
xref: MESH:C566784
is_a: DOID:9005329 ! Preaxial Polydactyly

[Term]
id: DOID:9004150
name: Lymphadenopathy
def: "Disease of LYMPH NODES which are abnormal in size, number or consistency." [MESH:D000072281]
synonym: "adenopathies" EXACT []
synonym: "adenopathy" EXACT []
synonym: "lymphadenopathies" EXACT []
xref: MESH:D000072281
is_a: DOID:9942 ! lymph node disease

[Term]
id: DOID:9004151
name: Sex Chromosome Disorders
def: "Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment)." [MESH:D025064]
synonym: "Sex Chromosome Abnormality Disorders" EXACT []
synonym: "Sex Chromosome Disorder" EXACT []
xref: MESH:D025064
is_a: DOID:0080014 ! chromosomal disease

[Term]
id: DOID:9004152
name: C9 Deficiency with Dermatomyositis
xref: MESH:C565166
is_a: DOID:10223 ! dermatomyositis
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9004153
name: Infant Nutrition Disorders
def: "Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in infants ages 1 month to 24 months." [MESH:D007228]
synonym: "Infantile Malnutrition" EXACT []
synonym: "Infant Malnutrition" EXACT []
synonym: "Infant Nutrition Disorder" EXACT []
synonym: "Infant Overnutrition" EXACT []
synonym: "Malnutrition in Infant" EXACT []
synonym: "Malnutrition in Infants" EXACT []
xref: MESH:D007228
is_a: DOID:374 ! nutrition disease

[Term]
id: DOID:9004154
name: Bacillaceae Infections
def: "Infections with bacteria of the family BACILLACEAE." [MESH:D016863]
synonym: "Bacillaceae Infection" EXACT []
synonym: "Bacillaceae infectious disease" EXACT []
synonym: "primary Bacillaceae infectious disease" EXACT []
xref: EFO:1001124
xref: MESH:D016863
xref: RDO:0004865
is_a: DOID:9002823 ! Gram-Positive Bacterial Infections

[Term]
id: DOID:9004155
name: Shoulder Injuries
def: "Injuries involving the SHOULDERS." [MESH:D000070599]
synonym: "Shoulder Injury" EXACT []
synonym: "SLAP Tear" EXACT []
synonym: "SLAP Tears" EXACT []
synonym: "Superior Labrum from Anterior to Posterior Injuries" EXACT []
xref: MESH:D000070599
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9004156
name: Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities
alt_id: MIM:273390
synonym: "Absence of all four limbs with ectodermal dysplasia and lacrimal duct abnormalities" EXACT []
synonym: "Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities" EXACT []
xref: MESH:C536496
is_a: DOID:0112191 ! tetraamelia syndrome
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9004157
name: Protozoan Infections, Animal
def: "Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary." [MESH:D011529]
synonym: "Animal Protozoan Infection" EXACT []
xref: MESH:D011529
xref: RDO:0004961
is_a: DOID:2789 ! parasitic protozoa infectious disease
is_a: DOID:9006645 ! Parasitic Diseases, Animal

[Term]
id: DOID:9004158
name: diffuse intrinsic pontine glioma
def: "This is a neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" [NCI:C94764]
synonym: "DIPG" EXACT []
xref: EFO:1000026
xref: MESH:D000080443
is_a: DOID:4202 ! brain stem glioma
created_by: slaulede
creation_date: 2022-09-19T16:17:35Z

[Term]
id: DOID:9004159
name: Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase
alt_id: MIM:131880
xref: MESH:C565049
is_a: DOID:2730 ! epidermolysis bullosa

[Term]
id: DOID:9004160
name: Metrorrhagia
def: "Abnormal uterine bleeding that is not related to MENSTRUATION, usually in females without regular MENSTRUAL CYCLE. The irregular and unpredictable bleeding usually comes from a dysfunctional ENDOMETRIUM." [MESH:D008796]
synonym: "Bleeding Between Periods" EXACT []
synonym: "Breakthrough Bleeding" EXACT []
synonym: "Dysfunctional Uterine Bleeding" EXACT []
synonym: "Dysfunctional Uterine Bleedings" EXACT []
synonym: "Intermenstrual Bleeding" EXACT []
synonym: "Spotting" EXACT []
xref: MESH:D008796
is_a: DOID:1005 ! endometrial disease
is_a: DOID:9006889 ! Uterine Hemorrhage

[Term]
id: DOID:9004161
name: Mental Retardation, Skeletal Dysplasia, and Abducens Palsy
alt_id: MIM:309620
synonym: "Christian Syndrome" EXACT []
synonym: "CHRS" EXACT []
synonym: "MRSD" EXACT []
xref: MESH:C564101
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10865 ! abducens nerve palsy
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9004162
name: BILE ACID CONJUGATION DEFECT 1
def: "This disease is an autosomal recessive metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy. The clinical features of the disorder result from impaired absorption of fat-soluble vitamins D and K." [MIM:619232]
synonym: "BAAT-RELATED CONDITION" NARROW []
synonym: "BACD1" EXACT []
synonym: "bile acid conjugation defect-1" EXACT []
xref: MIM:619232
is_a: DOID:9004644 ! Avitaminosis
created_by: slaulede
creation_date: 2021-05-11T13:23:32Z

[Term]
id: DOID:9004163
name: Internal Anal Sphincter Myopathy
alt_id: MIM:105565
synonym: "proctalgia fugax due to anal sphincter myopathy" EXACT []
xref: MESH:C566287
is_a: DOID:0080000 ! muscular disease

[Term]
id: DOID:9004165
name: Soft Tissue Infections
def: "Infections of non-skeletal tissue, i.e., exclusive of bone, ligaments, cartilage, and fibrous tissue. The concept is usually referred to as skin and soft tissue infections and usually subcutaneous and muscle tissue are involved. The predisposing factors in anaerobic infections are trauma, ischemia, and surgery. The organisms often derive from the fecal or oral flora, particularly in wounds associated with intestinal surgery, decubitus ulcer, and human bites. (From Cecil Textbook of Medicine, 19th ed, p1688)" [MESH:D018461]
synonym: "Soft Tissue Infection" EXACT []
xref: MESH:D018461
xref: RDO:0007207
is_a: DOID:9004384 ! Bacterial Infections and Mycoses

[Term]
id: DOID:9004166
name: Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis
alt_id: MIM:166910
xref: MESH:C563479
is_a: DOID:2373 ! hereditary elliptocytosis

[Term]
id: DOID:9004167
name: Glaucoma 1, Open Angle, M
alt_id: MIM:610535
synonym: "GLC1M" EXACT []
xref: MESH:C566436
is_a: DOID:1070 ! primary open angle glaucoma

[Term]
id: DOID:9004168
name: Zechi-Ceide Syndrome
alt_id: MIM:612916
synonym: "occipital atretic cephalocele, unusual facies, and large feet" EXACT []
xref: MESH:C567865
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9000983 ! Encephalocele
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004169
name: Gas Poisoning
def: "Poisoning that results from exposure to gases such as CARBON MONOXIDE; NOBLE GASES; OXYGEN; or NATURAL GAS." [MESH:D005739]
synonym: "Gas Poisonings" EXACT []
xref: MESH:D005739
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:9004170
name: Macular Dystrophy with Central Cone Involvement
synonym: "CCMD" EXACT []
xref: MIM:616170
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:4448 ! macular degeneration

[Term]
id: DOID:9004171
name: Spinal Muscular Atrophy with Congenital Bone Fractures
xref: MIM:PS616866
is_a: DOID:0060160 ! childhood spinal muscular atrophy
is_a: DOID:9002589 ! Bone Fractures
created_by: mtutaj
creation_date: 2019-03-26T00:00:00Z

[Term]
id: DOID:9004172
name: Epilepsy, Occipital Calcifications
alt_id: MIM:226810
synonym: "Bilateral occipital calcifications with epilepsy" EXACT []
synonym: "Familial unilateral and bilateral occipital calcifications and epilepsy" EXACT []
xref: MESH:C535496
is_a: DOID:182 ! calcinosis
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:9004173
name: Distal Osteosclerosis
alt_id: MIM:126250
xref: MESH:C565093
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:9004174
name: Inosine Triphosphatase Deficiency
alt_id: MIM:613850
synonym: "INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY" EXACT []
xref: MESH:C564127
xref: NCI:C129974
xref: RDO:0013189
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9004175
name: Microcephaly, Epilepsy, and Diabetes Syndrome 1
def: "An autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes. Caused by homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21. (OMIM)" []
synonym: "MEDS1" EXACT []
xref: MIM:614231
is_a: DOID:9002791 ! Microcephaly, Epilepsy, and Diabetes Syndrome
created_by: mtutaj
creation_date: 2021-04-19T18:16:26Z

[Term]
id: DOID:9004176
name: Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes
alt_id: MIM:242870
xref: MESH:C565468
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9004177
name: Carabelli Anomaly of Maxillary Molar Teeth
alt_id: MIM:114700
xref: MESH:C566175
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9004178
name: Levocardia
def: "Congenital abnormalities in which the HEART is in the normal position (levocardia) in the left side of the chest but some or all of the THORAX or ABDOMEN viscera are transposed laterally (SITUS INVERSUS). It is also known as situs inversus with levocardia, or isolated levocardia. This condition is often associated with severe heart defects and splenic abnormalities such as asplenia or polysplenia." [MESH:D007979]
synonym: "Isolated Levocardia" EXACT []
synonym: "Situs Inversus with Levocardia" EXACT []
xref: MESH:D007979
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:758 ! situs inversus

[Term]
id: DOID:9004179
name: Immunodeficiency 97 with Autoinflammation
def: "An autosomal recessive complex immunologic disorder with variable features. Caused by compound heterozygous mutation in the PIK3CG gene on chromosome 7q22." [MIM:619802]
synonym: "IMD97" EXACT []
xref: MIM:619802
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: mtutaj
creation_date: 2022-04-11T10:03:06Z

[Term]
id: DOID:9004180
name: Aquaporin 1 Deficiency
synonym: "COLTON-NULL" EXACT []
xref: MIM:110450
is_a: DOID:630 ! genetic disease
created_by: rgd
creation_date: 2016-09-06T00:00:00Z

[Term]
id: DOID:9004181
name: Hypospadias 4
synonym: "HYSP4" EXACT []
synonym: "X-linked hypospadias 4, susceptibility to" RELATED []
xref: MIM:300856
is_a: DOID:10892 ! hypospadias
created_by: mtutaj
creation_date: 2022-08-22T10:28:58Z

[Term]
id: DOID:9004182
name: CHITOTRIOSIDASE DEFICIENCY
synonym: "CHITD" EXACT []
xref: MIM:614122
xref: RDO:9001393
is_a: DOID:655 ! inherited metabolic disorder
created_by: rgd
creation_date: 2017-02-27T00:00:00Z

[Term]
id: DOID:9004183
name: Vocal Cord Dysfunction
def: "A disorder characterized by an intermittent abnormal VOCAL CORDS movement toward the midline during inspiration or expiration resulting in upper AIRWAY OBSTRUCTION." [MESH:D064706]
synonym: "Exercise Induced Vocal Cord Dysfunction" EXACT []
synonym: "Paradoxical Vocal Fold Motion" EXACT []
synonym: "Paradoxical Vocal Fold Motion Disorder" EXACT []
synonym: "Vocal Cord Dysfunctions" EXACT []
xref: MESH:D064706
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:9004185
name: Congenital Dislocation of the Patella
synonym: "Congenital patellar dislocation" EXACT []
xref: MESH:C538081
xref: RDO:0004015
is_a: DOID:9004266 ! Patellar Dislocation

[Term]
id: DOID:9004186
name: Wolman Disease with Hypolipoproteinemia and Acanthocytosis
is_a: DOID:1386 ! abetalipoproteinemia
is_a: DOID:1387 ! hypolipoproteinemia
is_a: DOID:14497 ! Wolman disease

[Term]
id: DOID:9004187
name: Disease Resistance
def: "The capacity of an organism to defend itself against pathological processes or the agents of those processes. This most often involves innate immunity whereby the organism responds to pathogens in a generic way. The term disease resistance is used most frequently when referring to plants." [MESH:D060467]
synonym: "Disease Resistances" EXACT []
xref: MESH:D060467
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9004188
name: Joubert Syndrome 39
def: "An autosomal recessive neurodevelopmental disorder with variable manifestations. Caused by homozygous or compound heterozygous mutation in the TMEM218 gene on chromosome 11q24. (OMIM)" []
synonym: "JBTS39" EXACT []
xref: MIM:619562
is_a: DOID:0050777 ! Joubert syndrome
created_by: mtutaj
creation_date: 2021-10-15T14:56:44Z

[Term]
id: DOID:9004189
name: T-Cell Lymphoma 1A
alt_id: MIM:186960
xref: MESH:C536782
is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma

[Term]
id: DOID:9004190
name: Hiccup
def: "A spasm of the diaphragm that causes a sudden inhalation followed by rapid closure of the glottis which produces a sound." [MESH:D006606]
synonym: "Hiccough" EXACT []
synonym: "Hiccoughs" EXACT []
synonym: "Hiccups" EXACT []
xref: MESH:D006606
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:9004191
name: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA
synonym: "CHDED" EXACT []
xref: MIM:617364
xref: RDO:9001693
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:9004192
name: Arthrogryposis, X-Linked, Type V
alt_id: MIM:300158
synonym: "ACLLX" EXACT []
synonym: "AMCX5" EXACT []
synonym: "congenital lower limb arthrogryposis, X-linked" EXACT []
xref: MESH:C564574
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0080954 ! arthrogryposis multiplex congenita

[Term]
id: DOID:9004193
name: Desmosterolosis
alt_id: MIM:602398
xref: MESH:C566555
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004194
name: Isolated Macrothrombocytopenia
is_a: DOID:1588 ! thrombocytopenia
created_by: mtutaj
creation_date: 2022-04-28T10:34:27Z

[Term]
id: DOID:9004195
name: Bor-Duane Hydrocephalus Contiguous Gene Syndrome
alt_id: MIM:600257
synonym: "Branchio-Oto-Renal Duane hydrocephalus contiguous gene syndrome" EXACT []
synonym: "chromosome 8q12.2-q21.2 deletion syndrome" EXACT []
xref: MESH:C536574
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:12557 ! Duane retraction syndrome
is_a: DOID:14702 ! branchiootorenal syndrome

[Term]
id: DOID:9004196
name: Leber Optic Atrophy, Susceptibility To
synonym: "LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF" EXACT []
synonym: "LHON, modifier of" EXACT []
synonym: "LOAS" EXACT []
xref: MIM:308905
is_a: DOID:705 ! Leber hereditary optic neuropathy
created_by: mtutaj
creation_date: 2022-03-07T11:54:20Z

[Term]
id: DOID:9004197
name: Pelvic Neoplasms
def: "Tumors or cancer of the pelvic region." [MESH:D010386]
synonym: "Cancer of Pelvis" EXACT []
synonym: "Cancer of the Pelvis" EXACT []
synonym: "Neoplasms of Pelvis" EXACT []
synonym: "Pelvic Cancer" EXACT []
synonym: "Pelvic Cancers" EXACT []
synonym: "Pelvic Neoplasm" EXACT []
synonym: "Pelvis Cancer" EXACT []
synonym: "Pelvis Cancers" EXACT []
synonym: "Pelvis Neoplasm" EXACT []
synonym: "Pelvis Neoplasms" EXACT []
xref: MESH:D010386
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:9004198
name: Allergic Rhinosinusitis
def: "Inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES due to hypersensitivity to various allergens." []
is_a: DOID:0060496 ! respiratory allergy
is_a: DOID:9005941 ! Rhinosinusitis

[Term]
id: DOID:9004199
name: Hodgkin Disease, X-Linked Pseudoautosomal
alt_id: MIM:300221
synonym: "LYMPHOMA, HODGKIN, X-LINKED PSEUDOAUTOSOMAL" EXACT []
xref: MESH:C538326
xref: RDO:0004289
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:8567 ! Hodgkin's lymphoma

[Term]
id: DOID:9004200
name: Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias
alt_id: MIM:179250
synonym: "Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema" EXACT []
synonym: "Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema" EXACT []
synonym: "Schmitt Gillenwater Kelly syndrome" EXACT []
xref: MESH:C536262
is_a: DOID:10892 ! hypospadias
is_a: DOID:9004595 ! Diastema
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004201
name: Ectopia Lentis
def: "Congenital displacement of the lens resulting from defective zonule formation." [MESH:D004479]
xref: MESH:D004479
is_a: DOID:11364 ! lens subluxation
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9004202
name: Herpes Labialis
def: "Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)" [MESH:D006560]
synonym: "Cold Sore" EXACT []
synonym: "cold sores" EXACT []
synonym: "Fever Blister" EXACT []
synonym: "Fever Blisters" EXACT []
synonym: "labial herpes simplex" EXACT []
xref: EFO:1001347
xref: MESH:D006560
is_a: DOID:8566 ! herpes simplex
is_a: DOID:9297 ! lip disease

[Term]
id: DOID:9004203
name: Chromosome Breakage
def: "A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION." [MESH:D019457]
synonym: "Chromosomal Break" EXACT []
synonym: "Chromosomal Breakage" EXACT []
synonym: "Chromosomal Breakages" EXACT []
synonym: "Chromosomal Breaks" EXACT []
synonym: "Chromosome Break" EXACT []
synonym: "Chromosome Breakages" EXACT []
synonym: "Chromosome Breaks" EXACT []
xref: MESH:D019457
xref: RDO:0002130
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9004204
name: Tracheobronchopathia Osteoplastica
alt_id: MIM:189961
synonym: "Cartilaginous or bony projections into the tracheobronchial lumen" EXACT []
synonym: "Tracheobronchopathia Osteochondroplastica" EXACT []
synonym: "Tracheopathia osteoplastica" EXACT []
xref: MESH:C536977
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:3225 ! tracheal disease

[Term]
id: DOID:9004205
name: Left-Right Axis Malformations
xref: MESH:C566610
xref: RDO:0014921
is_a: DOID:0050545 ! visceral heterotaxy

[Term]
id: DOID:9004206
name: Thyroglossal Tract Cyst
alt_id: MIM:188455
synonym: "Familial thyroglossal duct cyst" EXACT []
synonym: "Hereditary thyroglossal duct cysts" EXACT []
synonym: "Thyroglossal duct cysts familial" EXACT []
xref: MESH:C536909
is_a: DOID:9007559 ! Thyroglossal Cyst

[Term]
id: DOID:9004207
name: Testicular Neoplasms
alt_id: RDO:0006682
def: "Tumors or cancer of the TESTIS. Germ cell tumors (GERMINOMA) of the testis constitute 95% of all testicular neoplasms." [MESH:D013736]
synonym: "neoplasm of testis" EXACT []
synonym: "Rete Testis Tumor" EXACT []
synonym: "Rete Testis Tumors" EXACT []
synonym: "Testicular Neoplasm" EXACT []
synonym: "Testicular Tumors" EXACT []
synonym: "testis neoplasm" EXACT []
synonym: "Testis Neoplasms" EXACT []
synonym: "tumor of rete testis" EXACT []
xref: EFO:0004281
xref: MESH:D013736
is_a: DOID:2519 ! testicular disease
is_a: DOID:9003125 ! Male Genital Neoplasms
is_a: DOID:9007803 ! Endocrine Gland Neoplasms

[Term]
id: DOID:9004208
name: Traumatic Brain Hemorrhage
def: "Bleeding within the brain as a result of penetrating and nonpenetrating CRANIOCEREBRAL TRAUMA. Traumatically induced hemorrhages may occur in any area of the brain, including the CEREBRUM; BRAIN STEM (see BRAIN STEM HEMORRHAGE, TRAUMATIC); and CEREBELLUM." [MESH:D020201]
synonym: "Traumatic Brain Hemorrhages" EXACT []
synonym: "Traumatic Cerebellar Hemorrhage" EXACT []
synonym: "Traumatic Cerebellar Hemorrhages" EXACT []
xref: MESH:D020201
is_a: DOID:0081292 ! traumatic brain injury
is_a: DOID:9008598 ! Traumatic Intracranial Hemorrhage

[Term]
id: DOID:9004209
name: Bone Fragility with Contractures, Arterial Rupture, and Deafness
synonym: "BCARD" EXACT []
synonym: "BCARD syndrome" EXACT []
synonym: "BONE ABNORMALITIES, CATARACT, ARTERIAL RUPTURE, AND DEAFNESS" EXACT []
synonym: "bone fragility with contractures, arterial rupture, and deafness" EXACT []
synonym: "LH3 Deficiency" EXACT []
synonym: "Lysyl Hydroxylase 3 Deficiency" EXACT []
synonym: "PLOD3-RELATED CONDITION" EXACT []
synonym: "PLOD3-RELATED DISORDER" EXACT []
xref: MESH:C567320
xref: MIM:612394
xref: MONDO:0012892
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9006836 ! Contracture
is_a: DOID:9008810 ! Spontaneous Rupture

[Term]
id: DOID:9004210
name: Tympanic Membrane Perforation
def: "A temporary or persistent opening in the eardrum (TYMPANIC MEMBRANE). Clinical signs depend on the size, location, and associated pathological condition." [MESH:D018058]
synonym: "Eardrum Perforation" EXACT []
synonym: "Tympanic Membrane Rupture" EXACT []
xref: EFO:0009472
xref: MESH:D018058
is_a: DOID:2742 ! auditory system disease
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9004211
name: Dizziness
def: "An imprecise term which may refer to a sense of spatial disorientation, motion of the environment, or lightheadedness." [MESH:D004244]
synonym: "Dizzyness" EXACT []
synonym: "Light Headedness" EXACT []
synonym: "Lightheadedness" EXACT []
synonym: "Orthostasis" EXACT []
xref: EFO:0009847
xref: MESH:D004244
is_a: DOID:0050155 ! sensory system disease

[Term]
id: DOID:9004212
name: Mitochondrial Myopathy, Lethal Infantile
alt_id: MIM:551000
alt_id: RDO:0008732
alt_id: RDO:0013119
synonym: "LIMM" EXACT []
xref: MESH:C564017
is_a: DOID:699 ! mitochondrial myopathy

[Term]
id: DOID:9004213
name: Pachyonychia Congenita 2
synonym: "Jackson-Lawler Syndrome (Pc-2)" EXACT []
synonym: "Jackson-Lawler type pachyonychia congenita" EXACT []
synonym: "Pachyonychia Congenita Type 2" EXACT []
synonym: "PC2" EXACT []
xref: MIM:167210
xref: MONDO:0008174
is_a: DOID:0050449 ! pachyonychia congenita
created_by: mtutaj
creation_date: 2019-03-26T12:26:12Z

[Term]
id: DOID:9004216
name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
def: "This disease is characterized by pre- and postnatal growth restriction, with extreme microcephaly, short stature, and absence of subcutaneous fat. There is also significant hematologic/immune dysfunction, with hypo- or agammaglobulinemia, as well as lymphopenia, anemia, and thrombocytopenia, and most affected individuals succumb to infection in early childhood." [MIM:620005]
synonym: "PDIL" EXACT []
xref: MIM:620005
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:811 ! lipodystrophy
is_a: DOID:9007661 ! Dwarfism
created_by: slaulede
creation_date: 2022-12-19T13:40:33Z

[Term]
id: DOID:9004217
name: Nerve Sheath Neoplasms
def: "Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." [MESH:D018317]
synonym: "nerve sheath neoplasm" EXACT []
synonym: "nerve sheath tumor" EXACT []
synonym: "nerve sheath tumors" EXACT []
synonym: "peripheral nerve sheath neoplasm" EXACT []
synonym: "peripheral nerve sheath tumors" EXACT []
synonym: "tumors of the nerve sheath" EXACT []
xref: MESH:D018317
is_a: DOID:1192 ! peripheral nervous system neoplasm
is_a: DOID:9002573 ! Nerve Tissue Neoplasms

[Term]
id: DOID:9004218
name: Pilotto Syndrome
synonym: "Cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation" EXACT []
xref: MESH:C537400
is_a: DOID:0060249 ! scoliosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9004219
name: Malformation of Arms
alt_id: MIM:107900
xref: MESH:C566258
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9004220
name: Adams-Oliver Syndrome 1
def: "This disease is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly)." []
synonym: "ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL" EXACT []
synonym: "Adams-Oliver syndrome I" EXACT []
synonym: "AOS" EXACT []
synonym: "AOS1" EXACT []
synonym: "APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS" RELATED []
synonym: "APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS" EXACT []
synonym: "ARHGAP31-RELATED CONDITION" EXACT []
synonym: "CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES" EXACT []
xref: MIM:100300
is_a: DOID:0060227 ! Adams-Oliver syndrome
created_by: mtutaj
creation_date: 2019-03-15T00:00:00Z

[Term]
id: DOID:9004221
name: Senior-Loken Syndrome 5
alt_id: MIM:609254
synonym: "SLSN5" EXACT []
xref: MESH:C563763
is_a: DOID:0050576 ! Senior-Loken syndrome

[Term]
id: DOID:9004222
name: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME
def: "A disease characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Failure to thrive is observed during infancy and early childhood." [MIM:617602]
synonym: "ABL1-RELATED CONDITION" BROAD []
synonym: "ABL1-RELATED DISORDER" BROAD []
synonym: "CHDSKM" EXACT []
xref: MIM:617602
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
created_by: slaulede
creation_date: 2020-09-08T14:43:01Z

[Term]
id: DOID:9004223
name: Chromosome 9, Partial Trisomy 9p
synonym: "Duplication 9p partial" EXACT []
synonym: "Trisomy 9p partial" EXACT []
xref: MESH:C538026
xref: RDO:0003960
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9004224
name: Mitochondrial Complex II Deficiency Nuclear Type 4
def: "A severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Caused by homozygous or compound heterozygous mutation in the succinate dehydrogenase complex subunit B gene (SDHB) on chromosome 1p36. (OMIM)" []
synonym: "MC2DN4" EXACT []
xref: MIM:619224
is_a: DOID:0060537 ! mitochondrial complex II deficiency
created_by: mtutaj
creation_date: 2021-03-09T10:51:31Z

[Term]
id: DOID:9004225
name: Keratoconus 7
synonym: "KTCN7" EXACT []
xref: MIM:614629
is_a: DOID:10126 ! keratoconus

[Term]
id: DOID:9004226
name: Hittner Hirsch Kreh Syndrome
xref: MESH:C538323
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10629 ! microphthalmia
is_a: DOID:12270 ! coloboma
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004228
name: Familial Hyperaldosteronism
xref: MESH:C580087
is_a: DOID:446 ! primary hyperaldosteronism

[Term]
id: DOID:9004230
name: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES
def: "This disease is an early-onset neurodevelopmental disorder and is characterized by developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities." [MIM:619595]
synonym: "DEHMBA" EXACT []
synonym: "SRCAP-RELATED CONDITION" BROAD []
xref: MIM:619595
is_a: DOID:150 ! disease of mental health
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2022-02-04T12:29:28Z

[Term]
id: DOID:9004231
name: Wallerian Degeneration of the Pyramidal Tract
xref: MESH:C531847
is_a: DOID:9002498 ! Wallerian Degeneration

[Term]
id: DOID:9004233
name: Olivopontocerebellar Atrophy II, Autosomal Recessive
alt_id: MIM:258300
synonym: "cerebellar ataxia and albinism" EXACT []
synonym: "olivopontocerebellar ataxia II, Fickler-Winkler type" EXACT []
synonym: "OPCA II, Fickler-Winkler Type" EXACT []
xref: MESH:C564930
is_a: DOID:14784 ! olivopontocerebellar atrophy

[Term]
id: DOID:9004234
name: Baby Rattle Pelvis Dysplasia
alt_id: MIM:605838
xref: MESH:C565282
is_a: DOID:0080006 ! bone development disease

[Term]
id: DOID:9004235
name: Familial Spinal Arachnoiditis
alt_id: MIM:182950
synonym: "Spinal arachnoiditis" EXACT []
synonym: "Spinal tuberculous arachnoiditis" EXACT []
xref: MESH:C531624
is_a: DOID:12156 ! arachnoiditis

[Term]
id: DOID:9004236
name: Autoimmune Hypothyroidism
alt_id: RDO:0012343
xref: MESH:C562768
relationship: part_of DOID:9007355 ! Hashimoto Disease

[Term]
id: DOID:9004237
name: Hyperoxic Lung Injury
def: "Damage to any compartment of the lung caused by an abnormal increase in the amount of oxygen." []
is_a: DOID:9000310 ! Lung Injury
is_a: DOID:9007480 ! Hyperoxia

[Term]
id: DOID:9004238
name: Adams-Stokes Syndrome
def: "A condition of fainting spells caused by heart block, often an atrioventricular block, that leads to BRADYCARDIA and drop in CARDIAC OUTPUT. When the cardiac output becomes too low, the patient faints (SYNCOPE). In some cases, the syncope attacks are transient and in others cases repetitive and persistent." [MESH:D000219]
synonym: "Adam Stokes Attacks" EXACT []
synonym: "Stokes Adams Attacks" EXACT []
xref: MESH:D000219
is_a: DOID:225 ! syndrome
is_a: DOID:9003163 ! Heart Block

[Term]
id: DOID:9004239
name: Cousin Syndrome
alt_id: MIM:260660
alt_id: RDO:0000731
alt_id: RDO:0008442
synonym: "Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature" EXACT []
synonym: "Pelvic shoulder dysplasia" EXACT []
synonym: "PELVISCAPULAR DYSPLASIA" EXACT []
xref: MESH:C535550
is_a: DOID:1934 ! dysostosis
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004240
name: Phyllodes Tumor
def: "A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." [MESH:D003557]
synonym: "cystosarcoma phyllodes" EXACT []
synonym: "cystosarcoma phylloides" EXACT []
synonym: "phyllodes tumors" EXACT []
xref: EFO:0000653
xref: MESH:D003557
is_a: DOID:1115 ! sarcoma

[Term]
id: DOID:9004241
name: Infantile Myofibromatosis 1
synonym: "IMF1" EXACT []
xref: MIM:228550
is_a: DOID:0080109 ! infantile myofibromatosis

[Term]
id: DOID:9004242
name: Endemic Treponematosis caused by Treponema Carateum
xref: MESH:C531782
xref: RDO:0000196
is_a: DOID:1022 ! pinta disease

[Term]
id: DOID:9004243
name: Muller Barth Menger Syndrome
alt_id: MIM:213820
synonym: "Cerebral malformation, seizures, hypertrichosis, and overlapping fingers" EXACT []
xref: MESH:C537370
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:420 ! hypertrichosis
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004244
name: Polyendocrine-Polyneuropathy Syndrome
synonym: "PEPNS" EXACT []
xref: MIM:616113
xref: RDO:9000654
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:225 ! syndrome
is_a: DOID:28 ! endocrine system disease

[Term]
id: DOID:9004245
name: Irritable Heart
synonym: "soldiers heart" EXACT []
xref: MESH:C531763
is_a: DOID:9004453 ! Orthostatic Intolerance

[Term]
id: DOID:9004246
name: Meningeal Carcinomatosis
def: "Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." [MESH:D055756]
synonym: "Carcinomatous Meningitides" EXACT []
synonym: "Carcinomatous Meningitis" EXACT []
synonym: "Leptomeningeal Carcinomatoses" EXACT []
synonym: "Leptomeningeal Carcinomatosis" EXACT []
synonym: "Meningeal Carcinomatoses" EXACT []
xref: MESH:D055756
xref: RDO:0007721
is_a: DOID:9007166 ! Meningeal Neoplasms

[Term]
id: DOID:9004247
name: Craniofaciofrontodigital Syndrome
alt_id: MIM:114620
synonym: "Cantu Craniofaciofrontodigital Syndrome" EXACT []
xref: MESH:C567298
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004248
name: Chilblains
def: "Recurrent localized itching, swelling and painful erythema on the fingers, toes or ears, produced by exposure to cold." [MESH:D002647]
synonym: "Chilblain" EXACT []
synonym: "Idiopathic Pernioses" EXACT []
synonym: "Idiopathic Perniosis" EXACT []
synonym: "Pernio" EXACT []
synonym: "Pernios" EXACT []
synonym: "Pernioses" EXACT []
synonym: "Perniosis" EXACT []
xref: MESH:D002647
is_a: DOID:9006668 ! Frostbite

[Term]
id: DOID:9004249
name: Dental Leakage
def: "The seepage of fluids, debris, and micro-organisms between the walls of a prepared dental cavity and the restoration." [MESH:D003763]
synonym: "Dental Leakages" EXACT []
xref: MESH:D003763
is_a: DOID:1091 ! tooth disease

[Term]
id: DOID:9004250
name: Hepatic Insufficiency
def: "Conditions in which the LIVER functions fall below the normal ranges. Severe hepatic insufficiency may cause LIVER FAILURE or DEATH. Treatment may include LIVER TRANSPLANTATION." [MESH:D048550]
synonym: "Liver Insufficiency" EXACT []
xref: MESH:D048550
is_a: DOID:409 ! liver disease

[Term]
id: DOID:9004251
name: Ruvalcaba Churesigaew Myhre Syndrome
xref: MESH:C537190
xref: RDO:0002979
is_a: DOID:225 ! syndrome
is_a: DOID:3911 ! progeria

[Term]
id: DOID:9004252
name: Vascular Fistula
def: "An abnormal passage between two or more BLOOD VESSELS, between ARTERIES; VEINS; or between an artery and a vein." [MESH:D016157]
synonym: "Vascular Fistulas" EXACT []
xref: MESH:D016157
is_a: DOID:178 ! vascular disease
is_a: DOID:9003191 ! Vascular Malformations
is_a: DOID:9007343 ! Fistula

[Term]
id: DOID:9004253
name: Immunoblastic Lymphadenopathy
def: "A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." [MESH:D007119]
synonym: "Angioimmunoblastic Lymphadenopathies" EXACT []
synonym: "Angioimmunoblastic Lymphadenopathy" EXACT []
synonym: "Immunoblastic Lymphadenopathies" EXACT []
xref: EFO:1001350
xref: MESH:D007119
xref: RDO:0005879
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:9004150 ! Lymphadenopathy

[Term]
id: DOID:9004254
name: Progressive Encephalomyelitis with Rigidity
xref: MESH:C566113
xref: RDO:0014570
is_a: DOID:640 ! encephalomyelitis
is_a: DOID:9001480 ! Muscle Rigidity

[Term]
id: DOID:9004255
name: Cataract, Sutural, with Punctate and Cerulean Opacities
xref: MESH:C564619
is_a: DOID:83 ! cataract

[Term]
id: DOID:9004256
name: Rozin Hertz Goodman Syndrome
alt_id: MIM:602612
synonym: "Camptodactyly, joint contractures, facial skeletal defects" EXACT []
synonym: "Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" EXACT []
xref: MESH:C535876
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004257
name: Pneumonia, Ventilator-Associated
def: "Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." [MESH:D053717]
xref: EFO:1001865
xref: MESH:D053717
is_a: DOID:552 ! pneumonia
is_a: DOID:9000945 ! Ventilator-Induced Lung Injury
is_a: DOID:9008485 ! Cross Infection

[Term]
id: DOID:9004258
name: Amyloid Neuropathies, Primary (nonfamilial)
xref: MESH:C531615
is_a: DOID:9006478 ! Amyloid Neuropathies

[Term]
id: DOID:9004259
name: Primary Malignant Melanoma of the Cervix
synonym: "Primary malignant melanoma of the cervix uteri" EXACT []
synonym: "Primary malignant melanoma of the uterine cervix" EXACT []
synonym: "Radiation induced malignant melanoma of the cervix" EXACT []
xref: MESH:C536417
is_a: DOID:4413 ! cervix melanoma

[Term]
id: DOID:9004260
name: Zimmerman Laband Syndrome
synonym: "Laband syndrome" EXACT []
synonym: "Zimmermann-Laband syndrome" EXACT []
xref: MESH:C536725
xref: MIM:PS135500
is_a: DOID:0060466 ! gingival fibromatosis
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004261
name: Visna
def: "Demyelinating leukoencephalomyelitis of sheep caused by the VISNA-MAEDI VIRUS. It is similar to but not the same as SCRAPIE." [MESH:D016182]
synonym: "Ovine Encephalomyelitides" EXACT []
synonym: "Ovine Encephalomyelitis" EXACT []
synonym: "Visnas" EXACT []
xref: EFO:0007542
xref: MESH:D016182
is_a: DOID:9004448 ! Slow Virus Diseases
is_a: DOID:9005091 ! Lentivirus Infections
is_a: DOID:9006097 ! Sheep Diseases

[Term]
id: DOID:9004262
name: Isolated Systolic Hypertension
def: "Hypertension with elevated systolic and normal diastolic blood pressure. It is the most common subtype in the elderly and is related to VASCULAR STIFFNESS and ATHEROSCLEROTIC PLAQUE buildup." []
synonym: "Systolic Hypertension" EXACT []
xref: MESH:D000092244
is_a: DOID:10763 ! hypertension
created_by: mtutaj
creation_date: 2022-12-12T14:40:07Z

[Term]
id: DOID:9004263
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY
def: "This disease is an autosomal recessive disorder characterized by severe global developmental delay apparent from infancy. Affected individuals have axial hypotonia and limited ability to walk." [MIM:619639]
synonym: "NEDHMS" EXACT []
xref: MIM:619639
is_a: DOID:9005466 ! Language Development Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2022-02-10T18:15:30Z

[Term]
id: DOID:9004264
name: Cyclodialysis Clefts
def: "Finding of a separation of the CILIARY BODY in the SCLERAL SPUR region, creating aqueous outflow from the ANTERIOR CHAMBER into suprachoroidal space between the CHOROID and the SCLERA. Persistent cyclodialysis clefts may be associated with OCULAR HYPOTENSION and OPTIC DISC EDEMA. (MESH)" []
synonym: "Cyclodialysis Cleft" EXACT []
synonym: "Persistent Cyclodialysis Clefts" EXACT []
synonym: "Traumatic Cyclodialysis" EXACT []
xref: MESH:D000080322
is_a: DOID:9006562 ! Choroidal Effusions
created_by: mtutaj
creation_date: 2020-01-30T14:50:14Z

[Term]
id: DOID:9004265
name: Endometrioid Carcinomas
def: "An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues." [MESH:D018269]
synonym: "ENDOMETRIAL ENDOMETRIOID ADENOCARCINOMA, VARIANT WITH SQUAMOUS DIFFERENTIATION" NARROW []
synonym: "endometrioid adenocarcinoma" EXACT []
synonym: "endometrioid adenocarcinomas" EXACT []
synonym: "endometrioid carcinoma" EXACT []
synonym: "stage I endometrioid carcinoma" NARROW []
synonym: "stage II endometrioid carcinoma" NARROW []
xref: EFO:0000205
xref: EFO:0000206
xref: EFO:0000466
xref: MESH:D018269
is_a: DOID:2871 ! endometrial carcinoma

[Term]
id: DOID:9004266
name: Patellar Dislocation
def: "Displacement of the PATELLA from the femoral groove." [MESH:D031222]
synonym: "Patellar Dislocations" EXACT []
xref: MESH:D031222
is_a: DOID:9003279 ! Joint Dislocations
is_a: DOID:9008290 ! Knee Injuries

[Term]
id: DOID:9004267
name: Palmoplantar Hyperkeratosis and True Hermaphroditism
xref: MESH:C567165
xref: RDO:0015313
is_a: DOID:0111760 ! 46,XX sex reversal
is_a: DOID:3390 ! palmoplantar keratosis

[Term]
id: DOID:9004268
name: Uterine Neoplasms
def: "Tumors or cancer of the UTERUS." [MESH:D014594]
synonym: "neoplasm of uterus" EXACT []
synonym: "tumour of uterus" EXACT []
synonym: "uterine neoplasm" EXACT []
synonym: "uterine tumor" EXACT []
synonym: "uterus neoplasm" EXACT []
synonym: "uterus neoplasms" EXACT []
xref: EFO:0003859
xref: MESH:D014594
is_a: DOID:345 ! uterine disease
is_a: DOID:9007399 ! Female Genital Neoplasms

[Term]
id: DOID:9004269
name: Chromothripsis
def: "Massive number of chromosomal rearrangements and shattering that occurs in cancer cells. The breakpoints are located within one chromosome or chromosome arm." [MESH:D000072837]
synonym: "Chromosome Shattering" EXACT []
synonym: "Chromosome Shatterings" EXACT []
synonym: "Chromothripses" EXACT []
xref: MESH:D000072837
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9004270
name: Generalized Epidermolysis Bullosa Simplex 2B
synonym: "EBS2B" EXACT []
synonym: "epidermolysis bullosa simplex 2B, Koebner type" EXACT []
synonym: "generalized intermediate epidermolysis bullosa simplex-2B" EXACT []
xref: MIM:619588
is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type
created_by: mtutaj
creation_date: 2021-11-03T12:02:32Z

[Term]
id: DOID:9004271
name: Colonic Polyps
def: "Discrete tissue masses that protrude into the lumen of the COLON. These POLYPS are connected to the wall of the colon either by a stalk, pedunculus, or by a broad base." [MESH:D003111]
synonym: "Colonic Polyp" EXACT []
synonym: "Colon Juvenile Polyp" NARROW []
synonym: "COLON POLYPS" EXACT []
synonym: "Colon Sessile Serrated Adenoma/Polyp" NARROW []
xref: EFO:1000185
xref: EFO:1000189
xref: MESH:D003111
xref: MONDO:0021400
is_a: DOID:9001642 ! Intestinal Polyps

[Term]
id: DOID:9004272
name: Varicose Ulcer
def: "Skin breakdown or ulceration in the drainage area of a VARICOSE VEIN, usually in the leg." [MESH:D014647]
synonym: "Stasis Ulcer" EXACT []
synonym: "Stasis Ulcers" EXACT []
synonym: "Varicose Ulcers" EXACT []
synonym: "Venous Hypertension Ulcer" EXACT []
synonym: "Venous Hypertension Ulcers" EXACT []
synonym: "Venous Stasis Ulcer" EXACT []
synonym: "Venous Stasis Ulcers" EXACT []
synonym: "Venous Ulcer" EXACT []
synonym: "Venous Ulcers" EXACT []
xref: EFO:1001923
xref: MESH:D014647
is_a: DOID:799 ! varicose veins
is_a: DOID:9001347 ! Leg Ulcer

[Term]
id: DOID:9004273
name: Anaplastic Small Cell Lymphoma
synonym: "Small cell variant of anaplastic large cell lymphoma" EXACT []
xref: MESH:C538255
xref: RDO:0004209
is_a: DOID:0060060 ! non-Hodgkin lymphoma

[Term]
id: DOID:9004274
name: Abdomen, Acute
def: "A clinical syndrome with acute abdominal pain that is severe, localized, and rapid in onset. Acute abdomen may be caused by a variety of disorders, injuries, or diseases." [MESH:D000006]
synonym: "Acute Abdomens" EXACT []
xref: MESH:D000006
xref: RDO:0004683
is_a: DOID:9005734 ! Abdominal Pain

[Term]
id: DOID:9004275
name: Stomach Rupture
def: "Bursting of the STOMACH." [MESH:D013275]
synonym: "Gastric Rupture" EXACT []
synonym: "Gastric Ruptures" EXACT []
synonym: "Stomach Ruptures" EXACT []
xref: EFO:1001851
xref: MESH:D013275
is_a: DOID:76 ! stomach disease
is_a: DOID:9001932 ! Abdominal Injuries
is_a: DOID:9005630 ! Rupture

[Term]
id: DOID:9004276
name: Thrombocythemia 3
synonym: "THCYT3" EXACT []
synonym: "THROMBOCYTOSIS 3" EXACT []
xref: MIM:614521
is_a: DOID:2228 ! thrombocytosis

[Term]
id: DOID:9004277
name: Lessel-Kubisch Syndrome
alt_id: MIM:618681
def: "A disease characterized by short stature and progeroid features, including prematurely gray hair, pinched facies, and scleroderma-like skin changes." []
synonym: "LSKB" EXACT []
xref: EFO:0010632
is_a: DOID:9002644 ! Premature Aging
is_a: DOID:9007661 ! Dwarfism
created_by: slaulede
creation_date: 2020-01-10T14:36:16Z

[Term]
id: DOID:9004278
name: Sarcoma, Yoshida
def: "An experimental sarcoma of rats." [MESH:D012517]
synonym: "Reticulum Cell Like Sarcoma, Yoshida" EXACT []
xref: MESH:D012517
is_a: DOID:9005474 ! Experimental Sarcoma

[Term]
id: DOID:9004279
name: Forearm Injuries
def: "Injuries to the part of the upper limb of the body between the wrist and elbow." [MESH:D005543]
synonym: "Forearm Injury" EXACT []
xref: MESH:D005543
is_a: DOID:9003309 ! Arm Injuries

[Term]
id: DOID:9004281
name: Tricho-Dento-Osseous Syndrome 1
xref: MESH:C536550
xref: RDO:0002165
is_a: DOID:0080001 ! bone disease
is_a: DOID:2339 ! Crouzon syndrome
is_a: DOID:421 ! hair disease
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9004282
name: Fractures, Compression
def: "Crumbling or smashing of cancellous BONE by forces acting parallel to the long axis of bone. It is applied particularly to vertebral body fractures (SPINAL FRACTURES). (Blauvelt and Nelson, A Manual of Orthopedic Terminology, 1994, p4)" [MESH:D050815]
synonym: "Compression Fracture" EXACT []
xref: MESH:D050815
xref: RDO:0007576
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9004283
name: Transplant Rejection
def: "A process in which a transplant recipient's immune system attacks the transplanted organ or tissue. The rejection can be hyperacute (occurring within a few minutes), acute (occurring within days to months), or chronic (occurring over many years)." []
is_a: DOID:2914 ! immune system disease

[Term]
id: DOID:9004285
name: Paroxysmal Nocturnal Hemoglobinuria 1
synonym: "PNH1" EXACT []
xref: MIM:300818
is_a: DOID:0060284 ! paroxysmal nocturnal hemoglobinuria
created_by: mtutaj
creation_date: 2022-07-26T10:41:15Z

[Term]
id: DOID:9004286
name: Hirschsprung Disease 1
synonym: "Hirschsprung disease type 1" EXACT []
xref: MESH:C538540
xref: RDO:0004483
is_a: DOID:10487 ! Hirschsprung's disease

[Term]
id: DOID:9004287
name: Phantom Limb
def: "Perception of painful and nonpainful phantom sensations that occur following the complete or partial loss of a limb. The majority of individuals with an amputated extremity will experience the impression that the limb is still present, and in many cases, painful. (From Neurol Clin 1998 Nov;16(4):919-36; Brain 1998 Sep;121(Pt 9):1603-30)" [MESH:D010591]
synonym: "Phantom Limb Pain" EXACT []
synonym: "Phantom Limb Pains" EXACT []
synonym: "Phantom Limbs" EXACT []
synonym: "Phantom Pain" EXACT []
synonym: "Phantom Pains" EXACT []
synonym: "Phantom Sensation" EXACT []
synonym: "Phantom Sensations" EXACT []
synonym: "Pseudomelia" EXACT []
synonym: "Pseudomelias" EXACT []
xref: MESH:D010591
is_a: DOID:9003971 ! Postoperative Pain
is_a: DOID:9004523 ! Perceptual Disorders

[Term]
id: DOID:9004288
name: Hemorrhagic Shock and Encephalopathy Syndrome
xref: MESH:C537254
is_a: DOID:225 ! syndrome
is_a: DOID:9001708 ! Hemorrhagic Shock
is_a: DOID:9004324 ! Congenital, Hereditary, and Neonatal Diseases and Abnormalities

[Term]
id: DOID:9004289
name: Drug-Induced Leukopenia
def: "Leukopenia associated with chemotherapy or other drug treatment." []
synonym: "chemotherapy-induced leukopenia" EXACT []
synonym: "drug-induced leucopenia" EXACT []
synonym: "drug-induced leukocytopenia" EXACT []
xref: RDO:9001221
is_a: DOID:615 ! leukopenia
created_by: rgd
creation_date: 2016-07-22T00:00:00Z

[Term]
id: DOID:9004290
name: Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination
def: "A syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Additional features include hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk. Brain imaging shows cerebral atrophy and delayed myelination. (OMIM)" []
synonym: "NACC1-RELATED CONDITION" EXACT []
synonym: "NACC1-RELATED DISORDER" EXACT []
synonym: "NECFM" EXACT []
xref: MIM:617393
is_a: DOID:1826 ! epilepsy
is_a: DOID:83 ! cataract
is_a: DOID:8670 ! eating disorder
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006534 ! Nervous System Malformations
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases

[Term]
id: DOID:9004291
name: Osteootohepatoenteric Syndrome
def: "Characterized by a variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea. Caused by compound heterozygous mutation in the UNC45A gene on chromosome 15q26. (OMIM)" []
synonym: "O2HE" EXACT []
synonym: "OOHE" EXACT []
synonym: "osteo-oto-hepato-enteric syndrome" EXACT []
xref: MIM:619377
xref: NCI:C201597
is_a: DOID:0060774 ! congenital diarrhea
is_a: DOID:0080001 ! bone disease
is_a: DOID:13580 ! cholestasis
is_a: DOID:225 ! syndrome
is_a: DOID:9004538 ! Hearing Loss
created_by: mtutaj
creation_date: 2021-06-11T12:13:39Z

[Term]
id: DOID:9004292
name: MOMES Syndrome
alt_id: MIM:606772
synonym: "impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies" EXACT []
synonym: "Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies" EXACT []
xref: MESH:C564660
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:3310 ! atopic dermatitis
is_a: DOID:9003576 ! Prognathism
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9004293
name: Congenital Ptosis, Hereditary 2
alt_id: MIM:300245
alt_id: RDO:0013478
synonym: "PTOS2" EXACT []
synonym: "Ptosis, X-Linked" EXACT []
synonym: "PTOSX" EXACT []
xref: MESH:C564553
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0060261 ! congenital ptosis

[Term]
id: DOID:9004294
name: Prosthesis Failure
def: "Malfunction of implantation shunts, valves, etc., and prosthesis loosening, migration, and breaking." [MESH:D011475]
synonym: "Prosthesis Durabilities" EXACT []
synonym: "Prosthesis Durability" EXACT []
synonym: "Prosthesis Failures" EXACT []
synonym: "Prosthesis Loosening" EXACT []
synonym: "Prosthesis Loosenings" EXACT []
synonym: "Prosthesis Migration" EXACT []
synonym: "Prosthesis Migrations" EXACT []
synonym: "Prosthesis Survival" EXACT []
synonym: "Prosthesis Survivals" EXACT []
xref: MESH:D011475
xref: RDO:0006420
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9004295
name: Periventricular Nodular Heterotopia 6
alt_id: RDO:9000989
synonym: "PVNH6" EXACT []
xref: MIM:615544
is_a: DOID:0050454 ! periventricular nodular heterotopia

[Term]
id: DOID:9004296
name: Hypokalemic Periodic Paralysis, Type 1
synonym: "HOKPP1" EXACT []
synonym: "hypokalemic periodic paralysis 1" EXACT []
xref: MIM:170400
is_a: DOID:14452 ! hypokalemic periodic paralysis

[Term]
id: DOID:9004297
name: Warfarin Syndrome
synonym: "Congenital warfarin syndrome" EXACT []
synonym: "Coumarin syndrome" EXACT []
synonym: "DiSala syndrome" EXACT []
synonym: "Fetal anticoagulant syndrome" EXACT []
synonym: "Warfarin embryopathy" EXACT []
xref: MESH:C536683
is_a: DOID:225 ! syndrome
is_a: DOID:9007828 ! Abnormalities, Drug-Induced

[Term]
id: DOID:9004298
name: Prostate Cancer/Brain Cancer Susceptibility
alt_id: RDO:0008899
synonym: "CAPB" EXACT []
synonym: "PCBC" EXACT []
xref: MIM:603688
is_a: DOID:10283 ! prostate cancer
is_a: DOID:1319 ! brain cancer

[Term]
id: DOID:9004299
name: Al Gazali Sabrinathan Nair Syndrome
xref: MESH:C535617
is_a: DOID:12347 ! osteogenesis imperfecta
is_a: DOID:225 ! syndrome
is_a: DOID:5679 ! retinal disease
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9004300
name: Urioste Martinez-Frias Syndrome
alt_id: MIM:235255
synonym: "MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY" EXACT []
synonym: "Urioste syndrome" EXACT []
xref: MESH:C536478
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:1148 ! polydactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004301
name: Solid Pseudopapillary Neoplasm of the Pancreas
def: "This is a low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass." [NCI:C37212]
synonym: "Solid Pseudopapillary Tumor of the Pancreas" EXACT []
xref: EFO:1000542
is_a: DOID:1795 ! malignant exocrine pancreas neoplasm
created_by: slaulede
creation_date: 2023-02-23T15:47:26Z

[Term]
id: DOID:9004302
name: Sexually Transmitted Diseases
def: "Diseases due to or propagated by sexual contact." [MESH:D012749]
synonym: "Sexually Transmitted Disease" EXACT []
synonym: "Sexually Transmitted Infection" EXACT []
synonym: "Sexually Transmitted Infections" EXACT []
synonym: "STI" EXACT []
synonym: "Venereal Disease" EXACT []
synonym: "Venereal Diseases" EXACT []
xref: MESH:D012749
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:229 ! female reproductive system disease
is_a: DOID:48 ! male reproductive system disease
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9004303
name: Tubulointerstitial Fibrosis
def: "A pathological condition where fibrous connective tissue invades the tubules and interstitium of the kidney." []
synonym: "renal interstitial fibrosis" NARROW []
xref: RDO:9000788
is_a: DOID:0050855 ! renal fibrosis
created_by: rgd
creation_date: 2015-09-23T00:00:00Z

[Term]
id: DOID:9004304
name: Plummer-Vinson Syndrome
def: "A syndrome of DYSPHAGIA with IRON-DEFICIENCY ANEMIA that is due to congenital anomalies in the ESOPHAGUS (such as cervical esophageal webs). It is known as Patterson-Kelly syndrome in the United Kingdom." [MESH:D011004]
synonym: "Kelly's syndrome" EXACT []
synonym: "Kellys Syndrome" EXACT []
synonym: "Kelly Syndrome" EXACT []
synonym: "Patterson's Syndrome" EXACT []
synonym: "Patterson Brown Kelly Syndrome" EXACT []
synonym: "Patterson Kelly Syndrome" EXACT []
synonym: "Pattersons Syndrome" EXACT []
synonym: "Patterson syndrome" EXACT []
xref: MESH:D011004
is_a: DOID:225 ! syndrome
is_a: DOID:9192 ! dyskinesia of esophagus

[Term]
id: DOID:9004305
name: Sohval Soffer Syndrome
synonym: "Congenital testicular deficiency" EXACT []
xref: MESH:C536679
is_a: DOID:225 ! syndrome
is_a: DOID:2519 ! testicular disease

[Term]
id: DOID:9004306
name: Peptic Ulcer Hemorrhage
def: "Bleeding from a PEPTIC ULCER that can be located in any segment of the GASTROINTESTINAL TRACT." [MESH:D010438]
synonym: "Peptic Ulcer Hemorrhages" EXACT []
xref: MESH:D010438
is_a: DOID:9008975 ! Gastrointestinal Hemorrhage

[Term]
id: DOID:9004307
name: Alazami Syndrome
def: "A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia." []
synonym: "ALAZS" EXACT []
synonym: "facial dysmorphism, intellectual disability, and primordial dwarfism" EXACT []
synonym: "LARP7-RELATED CONDITION" EXACT []
xref: MIM:615071
is_a: DOID:0060870 ! isolated growth hormone deficiency
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9002811 ! Facial Dysmorphism with Multiple Malformations
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004308
name: Nervous System Lead Poisoning, Childhood
def: "Neurologic disorders occurring in children following lead exposure. The most frequent manifestation of childhood lead toxicity is an encephalopathy associated with chronic ingestion of lead that usually presents between the ages of 1 and 3 years. Clinical manifestations include behavioral changes followed by lethargy; CONVULSIONS; HALLUCINATIONS; DELIRIUM; ATAXIA; and vomiting. Elevated intracranial pressure (HYPERTENSION, INTRACRANIAL) and CEREBRAL EDEMA may occur. (From Adams et al., Principles of Neurology, 6th ed, p1210-2)" [MESH:D020264]
synonym: "Childhood Lead Encephalopathy" EXACT []
synonym: "Childhood Neurologic Saturnism" EXACT []
synonym: "Childhood Saturine Encephalopathy" EXACT []
synonym: "Lead Induced Nervous System Disease, Childhood" EXACT []
synonym: "Neurologic Lead Poisoning, Childhood" EXACT []
synonym: "Neurologic Plumbism, Childhood" EXACT []
synonym: "Neurotoxicity Syndrome, Lead, Childhood" EXACT []
xref: MESH:D020264
is_a: DOID:9007159 ! Nervous System Lead Poisoning

[Term]
id: DOID:9004309
name: Congenital Aural Atresia
synonym: "CAA" EXACT []
synonym: "congenital aural atresia with hyposmia" EXACT []
synonym: "TSHZ1-RELATED CONDITION" EXACT []
xref: MESH:C564321
xref: MIM:607842
xref: MONDO:0011921
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9004310
name: Snijders Blok-Fisher Syndrome
def: "A neurodevelopmental disorder characterized by global developmental delay, hypotonia, variable impaired intellectual development, and specifically impaired speech and language acquisition. Patients achieve independent ambulation. Dysmorphic features include abnormal, cupped, or prominent ears and ocular anomalies." [MIM:618604]
synonym: "SNIBFIS" EXACT []
xref: EFO:0010634
xref: MIM:618604
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2019-11-14T14:58:51Z

[Term]
id: DOID:9004311
name: Zadik Barak Levin Syndrome
alt_id: RDO:0002384
synonym: "Dermoid cysts, hypothyroidism, cleft palate, and hypodontia" EXACT []
xref: MESH:C536721
is_a: DOID:13714 ! anodontia
is_a: DOID:1459 ! hypothyroidism
is_a: DOID:225 ! syndrome
is_a: DOID:2658 ! dermoid cyst
is_a: DOID:674 ! cleft palate
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004312
name: Mixed Sclerosing Bone Dystrophy
xref: MESH:C537479
xref: RDO:0003325
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:9004313
name: Epidermodysplasia Verruciformis 5
synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5" EXACT []
synonym: "EV5" EXACT []
xref: MIM:618309
is_a: DOID:13777 ! epidermodysplasia verruciformis
created_by: mtutaj
creation_date: 2019-02-13T00:00:00Z

[Term]
id: DOID:9004314
name: Short-Rib Thoracic Dysplasia 15 with Polydactyly
synonym: "SRTD15" EXACT []
xref: MIM:617088
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
created_by: rgd
creation_date: 2016-09-12T00:00:00Z

[Term]
id: DOID:9004315
name: Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
alt_id: MIM:209010
xref: MESH:C565928
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1936 ! atherosclerosis
is_a: DOID:3330 ! partial sensory epilepsy
is_a: DOID:557 ! kidney disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9004316
name: Oculocerebrocutaneous Syndrome
alt_id: MIM:164180
synonym: "Delleman syndrome" EXACT []
synonym: "Oculo-cerebro-cutaneous syndrome" EXACT []
synonym: "Orbital cyst with cerebral and focal dermal malformations" EXACT []
xref: MESH:C538088
is_a: DOID:225 ! syndrome
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9003857 ! Central Nervous System Cysts
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9004317
name: Hand Injuries
def: "General or unspecified injuries to the hand." [MESH:D006230]
synonym: "hand injury" EXACT []
xref: MESH:D006230
is_a: DOID:9003309 ! Arm Injuries

[Term]
id: DOID:9004318
name: Nonphotosensitive Trichothiodystrophy 9
def: "Characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Caused by homozygous mutation in the MARS1 gene on chromosome 12q13." [MIM:619692]
synonym: "TTD9" EXACT []
xref: MIM:619692
is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy
created_by: mtutaj
creation_date: 2022-01-06T14:35:21Z

[Term]
id: DOID:9004319
name: Ventricular Outflow Obstruction
def: "Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS." [MESH:D014694]
synonym: "Ventricular Outflow Obstructions" EXACT []
xref: EFO:1001448
xref: MESH:D014694
is_a: DOID:114 ! heart disease

[Term]
id: DOID:9004320
name: Karak Syndrome
xref: MESH:C548029
is_a: DOID:225 ! syndrome
is_a: DOID:2367 ! neuroaxonal dystrophy

[Term]
id: DOID:9004321
name: Corneal Injuries
def: "Damage or trauma inflicted to the CORNEA by external means." [MESH:D065306]
synonym: "Cornea Injuries" EXACT []
synonym: "Cornea Injury" EXACT []
synonym: "Corneal Damage" EXACT []
synonym: "Corneal Damages" EXACT []
synonym: "Corneal Injury" EXACT []
synonym: "Corneal Scar" EXACT []
synonym: "Corneal Scars" EXACT []
synonym: "Corneal Trauma" EXACT []
synonym: "Corneal Traumas" EXACT []
xref: MESH:D065306
xref: RDO:0015959
is_a: DOID:10124 ! corneal disease
is_a: DOID:9006447 ! Eye Injuries

[Term]
id: DOID:9004322
name: Craniosynostosis with Anomalies of the Cranial Base and Digits
alt_id: MIM:218530
xref: MESH:C565666
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:9004323
name: Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium
synonym: "Retinitis Pigmentosa, PRPE Type" EXACT []
synonym: "RP with Preserved Paraarteriole Retinal Pigment Epithelium" EXACT []
xref: MESH:C564000
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:9004324
name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities
def: "Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES." [MESH:D009358]
subset: RGD_JBrowse_slim
synonym: "Congenital Disorder" EXACT []
synonym: "Congenital Disorders" EXACT []
synonym: "Neonatal Diseases and Abnormalities" EXACT []
xref: MESH:D009358
is_a: DOID:9008582 ! Developmental Disease

[Term]
id: DOID:9004327
name: Colpocephaly
xref: MESH:C535973
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9004328
name: Drachtman Weinblatt Sitarz Syndrome
synonym: "Marrow hypoplasia associated with congenital neurologic anomalies" EXACT []
xref: MESH:C535603
xref: RDO:0000823
is_a: DOID:225 ! syndrome
is_a: DOID:4961 ! bone marrow disease
is_a: DOID:9006534 ! Nervous System Malformations

[Term]
id: DOID:9004329
name: Sphincter of Oddi Dysfunction
def: "Organic or functional motility disorder involving the SPHINCTER OF ODDI and associated with biliary COLIC. Pathological changes are most often seen in the COMMON BILE DUCT sphincter, and less commonly the PANCREATIC DUCT sphincter." [MESH:D046628]
synonym: "Sphincter of Oddi Dyskinesia" EXACT []
synonym: "Sphincter of Oddi Stenosis" EXACT []
xref: MESH:D046628
is_a: DOID:4140 ! biliary dyskinesia

[Term]
id: DOID:9004330
name: Pubic Bone Dysplasia
alt_id: MIM:178350
xref: MESH:C566735
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9004331
name: Parathyroid Neoplasms
def: "Tumors or cancer of the PARATHYROID GLANDS." [MESH:D010282]
synonym: "parathyroid gland neoplasm" EXACT []
synonym: "parathyroid neoplasm" EXACT []
xref: MESH:D010282
is_a: DOID:11201 ! parathyroid gland disease
is_a: DOID:9006169 ! Head and Neck Neoplasms
is_a: DOID:9007803 ! Endocrine Gland Neoplasms

[Term]
id: DOID:9004332
name: Osteoarthritis, Experimental
def: "Osteoarthritis that is induced in experimental animals by creating instability in joints through surgery or chemical treatment.  It represents a progressive, degenerative joint disease resulting from biochemical changes and biomechanical stresses affecting articular cartilage." []
xref: RDO:9000116
is_a: DOID:8398 ! osteoarthritis
is_a: DOID:9006205 ! Animal Disease Models

[Term]
id: DOID:9004333
name: Hunter-Macdonald Syndrome
alt_id: MIM:611962
xref: MESH:C567445
is_a: DOID:225 ! syndrome
is_a: DOID:3565 ! meningioma
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004334
name: Kosztolanyi Syndrome
synonym: "Arachnodactyly, abnormal ossification and mental retardation" EXACT []
synonym: "Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation" EXACT []
xref: MESH:C537024
xref: RDO:0002776
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9005367 ! Arachnodactyly
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004335
name: Multiple Congenital Anomalies Syndrome with Cloverleaf Skull
alt_id: MIM:607161
xref: MESH:C564611
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004336
name: neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities
def: "An autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss." [MIM:616577]
synonym: "EHLMRS" EXACT []
synonym: "epilepsy, hearing loss, and intellectual disability syndrome" EXACT []
synonym: "Epilepsy, Hearing Loss, and Mental Retardation Syndrome" EXACT []
synonym: "NEDHSB" EXACT []
xref: EFO:0009647
xref: MIM:616577
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9004337
name: Cataract, Cortical Pulverulent, Late-Onset
xref: MESH:C563604
xref: RDO:0012824
is_a: DOID:83 ! cataract

[Term]
id: DOID:9004338
name: Advanced Sleep Phase Syndrome 4, Familial
def: "An autosomal dominant condition in which individuals wake and sleep early, caused by heterozygous mutation in the TIMELESS gene on chromosome 12q13." [MIM:620015]
synonym: "ADVANCE SLEEP PHASE SYNDROME, FAMILIAL, 4" EXACT []
synonym: "FASPS4" EXACT []
xref: MIM:620015
is_a: DOID:0050628 ! advanced sleep phase syndrome
created_by: mtutaj
creation_date: 2022-08-24T09:44:20Z

[Term]
id: DOID:9004339
name: Dyschromatosis Universalis Hereditaria 2
alt_id: MIM:612715
alt_id: RDO:0015335
synonym: "DUH2" EXACT []
xref: MESH:C567194
is_a: DOID:0060304 ! dyschromatosis universalis hereditaria

[Term]
id: DOID:9004341
name: Bunion
def: "Abnormal swelling of the inner aspect of the first metatarsal head affecting the first METATARSOPHALANGEAL JOINT." [MESH:D000071378]
synonym: "Bunions" EXACT []
xref: MESH:D000071378
is_a: DOID:9000083 ! Foot Deformities, Acquired

[Term]
id: DOID:9004342
name: Familial Temporal Epilepsy
alt_id: RDO:0002686
synonym: "Familial temporal lobe epilepsy" EXACT []
synonym: "MICAL1-RELATED LATERAL TEMPORAL EPILEPSY" NARROW []
xref: MESH:C536956
is_a: DOID:3328 ! temporal lobe epilepsy
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9004343
name: Craniofacial Dyssynostosis
alt_id: MIM:218350
synonym: "BILATERAL LAMBDOID AND SAGITTAL SYNOSTOSIS" EXACT []
synonym: "BLSS" EXACT []
synonym: "Craniofacial dyssynostosis and short stature" EXACT []
synonym: "Craniofacial Dyssynostosis with Short Stature" EXACT []
synonym: "Craniosynostosis-craniofacial dysostosis syndrome" EXACT []
xref: MESH:C536455
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004344
name: Adrenal Medullary Hyperplasia
def: "This disease is a cause of increased secretion of catecholamines, and subsequently endocrine hypertension. It has similar symptoms to, and may be a precursor of pheochromocytoma." [PMID:31384714, PMID:32732076]
synonym: "adrenal medulla hyperplasia" EXACT []
synonym: "AMH" EXACT []
xref: EFO:1000076
is_a: DOID:9000362 ! Adrenal Gland Neoplasms
is_a: DOID:9002221 ! Hyperplasia
created_by: slaulede
creation_date: 2022-08-26T13:04:42Z

[Term]
id: DOID:9004345
name: Isobutyryl-CoA Dehydrogenase Deficiency
alt_id: MIM:611283
synonym: "ACAD8 deficiency" EXACT []
synonym: "Acyl-CoA dehydrogenase family, member 8, deficiency of" EXACT []
synonym: "DEFICIENCY OF ISOBUTYRYL-COA DEHYDROGENASE" EXACT []
synonym: "IBDD" EXACT []
synonym: "IBD DEFICIENCY" EXACT []
synonym: "isobutyryl-coenzyme A dehydrogenase deficiency" EXACT []
xref: MESH:C535541
xref: NCI:C129975
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9004346
name: Retinitis Pigmentosa Inversa with Deafness
alt_id: MIM:268010
xref: MESH:C564842
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:9004347
name: Skeletal Muscle Reperfusion Injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to skeletal muscle, including swelling; hemorrhage; necrosis; and damage from free radicals." []
xref: RDO:9000692
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9004009 ! Reperfusion Injury

[Term]
id: DOID:9004348
name: Cleft Lip, Congenital Healed
xref: MESH:C563468
xref: RDO:0012715
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9004349
name: Chromosome 2, Trisomy 2q37
synonym: "duplication 2q37" EXACT []
synonym: "trisomy 2q37" EXACT []
xref: MESH:C535368
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9004350
name: Chromosome 9, Partial Monosomy 9p
synonym: "9p Partial Monosomy" EXACT []
synonym: "9p- syndrome, partial" EXACT []
synonym: "Deletion 9p syndrome, partial" EXACT []
synonym: "Distal Monosomy 9p" EXACT []
synonym: "Partial deletion of short arm of chromosome 9" EXACT []
xref: MESH:C538025
xref: RDO:0003959
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9004351
name: Digestive System Neoplasms
def: "Tumors or cancer of the DIGESTIVE SYSTEM." [MESH:D004067]
synonym: "Digestive System Mixed Adenoneuroendocrine Carcinoma" NARROW []
synonym: "Digestive System Neoplasm" EXACT []
xref: EFO:0008549
xref: EFO:1000219
xref: MESH:D004067
xref: NCI:C60682
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:9004352
name: Sister Mary Joseph's Nodule
def: "Metastatic lesion of the UMBILICUS associated with intra-abdominal neoplasms especially of the GASTROINTESTINAL TRACT or OVARY." [MESH:D058288]
synonym: "Sister Joseph's Nodule" EXACT []
synonym: "Sister Joseph's Nodules" EXACT []
synonym: "Sister Joseph Nodule" EXACT []
synonym: "Sister Josephs Nodule" EXACT []
xref: MESH:D058288
xref: RDO:0007821
is_a: DOID:9003078 ! Abdominal Neoplasms

[Term]
id: DOID:9004353
name: Larsen Syndromes
xref: MESH:C580241
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9004354
name: Alcohol-Related Disorders
def: "Disorders related to or resulting from abuse or mis-use of alcohol." [MESH:D019973]
synonym: "Alcohol-Related Disorder" EXACT []
xref: MESH:D019973
is_a: DOID:303 ! substance-related disorder

[Term]
id: DOID:9004355
name: Hirschsprung Disease Type 3
xref: MESH:C538121
is_a: DOID:10487 ! Hirschsprung's disease

[Term]
id: DOID:9004356
name: Smith-Kingsmore Syndrome
def: "A rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip." [MIM:616638]
synonym: "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome" EXACT []
synonym: "macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism" EXACT []
synonym: "MINDS syndrome" EXACT []
synonym: "MTOR-RELATED CONDITION" BROAD []
synonym: "NEURODEVELOPMENTAL DISORDER, MTOR RELATED" BROAD []
synonym: "OVERGROWTH SYNDROME" EXACT []
synonym: "SKS" EXACT []
xref: EFO:0009050
xref: MIM:616638
is_a: DOID:0060321 ! umbilical hernia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: rgd
creation_date: 2015-12-08T00:00:00Z

[Term]
id: DOID:9004357
name: Spinal Muscular Atrophy, Infantile, James Type
synonym: "SMAJI" EXACT []
xref: MIM:619042
is_a: DOID:12377 ! spinal muscular atrophy
created_by: mtutaj
creation_date: 2020-10-19T17:29:27Z

[Term]
id: DOID:9004358
name: Candidiasis, Familial, 3
alt_id: MIM:607644
alt_id: RDO:0013354
synonym: "CANDF3" EXACT []
synonym: "Candidiasis, Familial Chronic Nail, With ICAM1 Deficiency" EXACT []
synonym: "CANDN1" EXACT []
synonym: "FCNC" EXACT []
xref: MESH:C564361
is_a: DOID:2058 ! chronic mucocutaneous candidiasis

[Term]
id: DOID:9004359
name: Chromosome 18, Deletion 18q23
synonym: "Deletion 18q23" EXACT []
synonym: "Monosomy 18q23" EXACT []
xref: MESH:C538305
xref: RDO:0004267
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9004360
name: RAUCH-STEINDL SYNDROME
def: "This disease is characterized by poor pre- and postnatal growth, characteristic dysmorphic facial features, and variable developmental delay with delayed motor and speech acquisition and impaired intellectual function. The phenotype represents a mild form of Wolf-Hirschhorn syndrome." [MIM:619695]
synonym: "RAUST" EXACT []
synonym: "WOLF-HIRSCHHORN LIKE SYNDROME" EXACT []
xref: MIM:619695
xref: MONDO:0859219
xref: ORDO:659642
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9008582 ! Developmental Disease
created_by: slaulede
creation_date: 2022-03-25T10:16:29Z

[Term]
id: DOID:9004361
name: Jung Wolff Back Stahl Syndrome
alt_id: MIM:601427
synonym: "Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" EXACT []
xref: MESH:C537694
is_a: DOID:1459 ! hypothyroidism
is_a: DOID:225 ! syndrome
is_a: DOID:3227 ! tracheal stenosis
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004362
name: Torulopsis
synonym: "Neonatal Torulopsis glabrata Fungemia" EXACT []
xref: MESH:C536972
is_a: DOID:1508 ! candidiasis

[Term]
id: DOID:9004363
name: Eisenmenger Complex
def: "A condition associated with VENTRICULAR SEPTAL DEFECT and other congenital heart defects that allow the mixing of pulmonary and systemic circulation, increase blood flow into the lung, and subsequent responses to low oxygen in blood. This complex is characterized by progressive PULMONARY HYPERTENSION; HYPERTROPHY of the RIGHT VENTRICLE; CYANOSIS; and ERYTHROCYTOSIS." [MESH:D004541]
synonym: "Eisenmenger's Complex" EXACT []
synonym: "Eisenmenger's Syndrome" EXACT []
synonym: "Eisenmengers Complex" EXACT []
synonym: "Eisenmengers Syndrome" EXACT []
synonym: "Eisenmenger Syndrome" EXACT []
xref: EFO:0009200
xref: MESH:D004541
xref: NCI:C84390
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9004364
name: Meckel Syndrome 10
synonym: "JBTS34" NARROW []
synonym: "Joubert syndrome 34" NARROW []
synonym: "Meckel syndrome, type 10" EXACT []
synonym: "MKS10" EXACT []
xref: MIM:614175
is_a: DOID:0050777 ! Joubert syndrome
is_a: DOID:0050778 ! Meckel syndrome

[Term]
id: DOID:9004365
name: Senior-Loken Syndrome 1
synonym: "SLSN1" EXACT []
xref: MIM:266900
is_a: DOID:0050576 ! Senior-Loken syndrome
created_by: mtutaj
creation_date: 2019-03-26T09:30:51Z

[Term]
id: DOID:9004366
name: Congenital Muscular Dystrophy with Cerebellar Atrophy
alt_id: MIM:603323
xref: MESH:C566392
is_a: DOID:0050557 ! congenital muscular dystrophy

[Term]
id: DOID:9004367
name: Autosomal Recessive Infantile Epilepsy
xref: RDO:9000702
is_a: DOID:14264 ! benign neonatal seizures

[Term]
id: DOID:9004368
name: Esophageal Fistula
def: "Abnormal passage communicating with the ESOPHAGUS. The most common type is TRACHEOESOPHAGEAL FISTULA between the esophagus and the TRACHEA." [MESH:D004937]
synonym: "Esophageal Fistulas" EXACT []
xref: MESH:D004937
is_a: DOID:6050 ! esophageal disease
is_a: DOID:9008038 ! Digestive System Fistula

[Term]
id: DOID:9004369
name: Hypesthesia
def: "Absent or reduced sensitivity to cutaneous stimulation." [MESH:D006987]
synonym: "Hypesthesias" EXACT []
synonym: "Hypoesthesia" EXACT []
synonym: "Hypoesthesias" EXACT []
synonym: "Impaired Sensation" EXACT []
synonym: "Impaired Sensations" EXACT []
synonym: "Numbness" EXACT []
synonym: "Reduced Sensation" EXACT []
synonym: "Reduced Sensations" EXACT []
synonym: "Tactile Hypesthesia" EXACT []
synonym: "Tactile Hypesthesias" EXACT []
synonym: "Thermal Hypesthesia" EXACT []
synonym: "Thermal Hypesthesias" EXACT []
xref: MESH:D006987
xref: RDO:0002033
is_a: DOID:9008625 ! Somatosensory Disorders

[Term]
id: DOID:9004370
name: Infantile Hypertrophic Pyloric Stenosis 1
alt_id: MIM:179010
synonym: "IHPS" EXACT []
synonym: "IHPS1" EXACT []
synonym: "Pyloric Stenosis, Infantile" EXACT []
synonym: "Pyloric Stenosis, Infantile Hypertrophic" EXACT []
xref: MESH:C566730
is_a: DOID:12638 ! hypertrophic pyloric stenosis

[Term]
id: DOID:9004371
name: Ankyloblepharon Filiforme Adnatum
alt_id: MIM:106250
synonym: "AFA" EXACT []
synonym: "Ankyloblepharon Filiforme Adnatum and Cleft Palate" EXACT []
synonym: "Ankyloblepharon filiforme adnatum cleft palate" EXACT []
synonym: "Ankyloblepharon filiforme congenitum" EXACT []
synonym: "Congenital filiform fusion of the eyelids with cleft palate and-or cleft lip" EXACT []
xref: MESH:C536373
xref: RDO:0001936
is_a: DOID:674 ! cleft palate
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9004372
name: Pulmonary Atelectasis
def: "Absence of air in the entire or part of a lung, such as an incompletely inflated neonate lung or a collapsed adult lung. Pulmonary atelectasis can be caused by airway obstruction, lung compression, fibrotic contraction, or other factors." [MESH:D001261]
synonym: "Atelectases" EXACT []
synonym: "Atelectasis" EXACT []
synonym: "Compression Atelectases" EXACT []
synonym: "Compression Atelectasis" EXACT []
synonym: "Compression Pulmonary Atelectases" EXACT []
synonym: "Compression Pulmonary Atelectasis" EXACT []
synonym: "Congestive Atelectases" EXACT []
synonym: "Congestive Atelectasis" EXACT []
synonym: "Congestive Pulmonary Atelectases" EXACT []
synonym: "Congestive Pulmonary Atelectasis" EXACT []
synonym: "Contraction Pulmonary Atelectases" EXACT []
synonym: "Contraction Pulmonary Atelectasis" EXACT []
synonym: "Lung Collapse" EXACT []
synonym: "Postoperative Pulmonary Atelectases" EXACT []
synonym: "Postoperative Pulmonary Atelectasis" EXACT []
synonym: "Pulmonary Atelectases" EXACT []
synonym: "Resorption Atelectases" EXACT []
synonym: "Resorption Atelectasis" EXACT []
synonym: "Resorption Pulmonary Atelectases" EXACT []
synonym: "Resorption Pulmonary Atelectasis" EXACT []
xref: MESH:D001261
xref: RDO:0004938
is_a: DOID:850 ! lung disease

[Term]
id: DOID:9004373
name: Autosomal Recessive Dyskeratosis Congenita
synonym: "recessive dyskeratosis congenita" EXACT []
xref: MESH:C565611
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2729 ! dyskeratosis congenita

[Term]
id: DOID:9004374
name: Colangite Esclerosante Porracoccidiodomicose
xref: MESH:C531768
xref: RDO:0000186
is_a: DOID:12662 ! paracoccidioidomycosis

[Term]
id: DOID:9004375
name: Pagetoid Reticulosis
def: "A distinct variant of mycosis fungoides characterized by the presence of localized patches or plaques with an intraepidermal proliferation of neoplastic cells." [MESH:D056267]
synonym: "Ketron Goodman Disease" EXACT []
synonym: "Pagetoid Reticuloses" EXACT []
synonym: "Woringer Kolopp Disease" EXACT []
xref: MESH:D056267
xref: RDO:0007740
is_a: DOID:8691 ! mycosis fungoides

[Term]
id: DOID:9004376
name: Progressive Pallidal Degeneration with Retinitis Pigmentosa
alt_id: MIM:260200
xref: MESH:C564910
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:679 ! basal ganglia disease

[Term]
id: DOID:9004377
name: Myostitis
is_a: DOID:423 ! myopathy
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:9004378
name: Postaxial Polydactyly, Type A4
alt_id: MIM:608562
alt_id: RDO:0013042
synonym: "PAPA4" EXACT []
xref: MESH:C563909
is_a: DOID:11193 ! syndactyly
is_a: DOID:9003071 ! Postaxial Polydactyly

[Term]
id: DOID:9004379
name: Vesicular Stomatitis
def: "A viral disease caused by at least two distinct species (serotypes) in the VESICULOVIRUS genus: VESICULAR STOMATITIS INDIANA VIRUS and VESICULAR STOMATITIS NEW JERSEY VIRUS. It is characterized by vesicular eruptions on the ORAL MUCOSA in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness." [MESH:D054243]
synonym: "Vesicular Stomatitides" EXACT []
xref: MESH:D054243
is_a: DOID:9004985 ! Animal Diseases
is_a: DOID:9008603 ! Rhabdoviridae Infections
is_a: DOID:9637 ! stomatitis

[Term]
id: DOID:9004380
name: Chromosome 1, Trisomy 1q32 qter
synonym: "Duplication 1q32 qter" EXACT []
synonym: "Trisomy 1q32 qter" EXACT []
xref: MESH:C538083
xref: RDO:0004017
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9004382
name: Heart Valve Prolapse
def: "Downward displacement of any one of the HEART VALVES from its normal position. This usually results in failed valve closure." [MESH:D016127]
synonym: "Heart Valve Prolapses" EXACT []
xref: MESH:D016127
is_a: DOID:4079 ! heart valve disease

[Term]
id: DOID:9004383
name: Eczematous Skin Diseases
def: "Any of a variety of eruptive skin disorders characterized by erythema, oozing, vesiculation, and scaling. Etiology is varied." [MESH:D017443]
synonym: "Eczematous Disorder" EXACT []
synonym: "Eczematous Disorders" EXACT []
synonym: "Eczematous Skin Disease" EXACT []
xref: MESH:D017443
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9004384
name: Bacterial Infections and Mycoses
def: "Infections caused by bacteria and fungi, general, specified, or unspecified." [MESH:D001423]
subset: RGD_JBrowse_slim
xref: MESH:D001423
is_a: DOID:0050117 ! disease by infectious agent

[Term]
id: DOID:9004387
name: Isolated Microphthalmia with Coloboma 5
alt_id: MIM:611638
synonym: "MCOPCB5" EXACT []
xref: MESH:C566899
is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma

[Term]
id: DOID:9004389
name: Bone Neoplasms
alt_id: RDO:0001001
def: "Tumors or cancer located in bone tissue or specific BONES." [MESH:D001859]
synonym: "bone neoplasm" EXACT []
synonym: "bone tumour" EXACT []
synonym: "neoplasm of bone" EXACT []
synonym: "osseous tumor" EXACT []
xref: EFO:0003820
xref: MESH:D001859
is_a: DOID:0080001 ! bone disease
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:9004390
name: Convalescence
def: "The period of recovery following an illness." [MESH:D003289]
synonym: "Convalescences" EXACT []
xref: EFO:0009630
xref: MESH:D003289
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9004391
name: Non-ST Elevated Myocardial Infarction
def: "A myocardial infarction that does not produce elevations in the ST segments of the ELECTROCARDIOGRAM. ST segment elevation of the ECG is often used in determining the treatment protocol (see also ST Elevation Myocardial Infarction)." [MESH:D000072658]
synonym: "Non ST Elevation Myocardial Infarction" EXACT []
synonym: "Non-ST-Elevation Myocardial Infarctions" EXACT []
synonym: "NSTEMI" EXACT []
xref: EFO:0008586
xref: MESH:D000072658
xref: RDO:0016117
is_a: DOID:5844 ! myocardial infarction

[Term]
id: DOID:9004392
name: Cranial Nerve Neoplasms
def: "Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." [MESH:D003390]
synonym: "benign cranial nerve neoplasms" EXACT []
synonym: "benign cranial nerve tumors" EXACT []
synonym: "benign cranial neuroma" EXACT []
synonym: "benign cranial neuromas" EXACT []
synonym: "cranial nerve neoplasm" EXACT []
synonym: "neoplasm of cranial nerve" EXACT []
synonym: "tumor of the cranial nerve" EXACT []
xref: MESH:D003390
is_a: DOID:5656 ! cranial nerve disease
created_by: mtutaj
creation_date: 2022-02-22T16:46:06Z

[Term]
id: DOID:9004393
name: Hemihyperplasia, Isolated
alt_id: MIM:235000
synonym: "Hemi 3 Syndrome" EXACT []
synonym: "Hemihyperplasia" EXACT []
synonym: "Hemihypertrophy, Isolated" EXACT []
synonym: "HEMIHYPERTROPHY, ISOLATED HEMI-3 SYNDROME" NARROW []
synonym: "HHP" EXACT []
synonym: "IH" EXACT []
xref: MESH:C565524
xref: RDO:0014134
is_a: DOID:9002221 ! Hyperplasia

[Term]
id: DOID:9004394
name: Pfeiffer Mayer Syndrome
xref: MESH:C537888
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1148 ! polydactyly
is_a: DOID:12270 ! coloboma
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004395
name: Skin Appendage Carcinoma
def: "A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" [MESH:D018280]
synonym: "Skin Appendage Carcinomas" EXACT []
xref: EFO:1001183
xref: MESH:D018280
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:9008418 ! Adnexal and Skin Appendage Neoplasms

[Term]
id: DOID:9004396
name: Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
alt_id: MIM:118230
alt_id: RDO:0014586
xref: MESH:C566137
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9004397
name: Calcification of Aortic Valve
synonym: "aortic valve calcification" EXACT []
synonym: "calcific aortic stenosis" EXACT []
synonym: "calcific aortic valve disease" EXACT []
synonym: "calcification of aortic valve" EXACT []
xref: EFO:0005239
xref: MESH:C562942
is_a: DOID:1712 ! aortic valve stenosis
is_a: DOID:182 ! calcinosis

[Term]
id: DOID:9004399
name: Phosphoribosylpyrophosphate Synthetase Deficiency
xref: MESH:C537897
is_a: DOID:653 ! purine-pyrimidine metabolic disorder

[Term]
id: DOID:9004401
name: Secernentea Infections
def: "Infections with nematodes of the subclass SECERNENTEA." [MESH:D017190]
synonym: "Phasmidia Infection" EXACT []
synonym: "Phasmidia Infections" EXACT []
synonym: "Secernentea Infection" EXACT []
xref: MESH:D017190
is_a: DOID:9002992 ! Nematode Infections

[Term]
id: DOID:9004402
name: Congenital Upper Extremity Deformities
def: "Congenital structural abnormalities of the UPPER EXTREMITY." [MESH:D038062]
synonym: "congenital upper limb deformities" EXACT []
xref: MESH:D038062
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9004403
name: uterine hyperstimulation
def: "This is a potential complication of labor induction when the contraction frequency exceeds more than five in a 10-minute time frame or as contractions exceeding more than two minutes in duration." [EFO:0020915]
synonym: "hypertonic uterine dysfunction" EXACT []
xref: EFO:0020915
is_a: DOID:345 ! uterine disease
is_a: DOID:9000610 ! Obstetric Labor Complications
created_by: slaulede
creation_date: 2023-01-23T17:34:52Z

[Term]
id: DOID:9004404
name: Familial Hemophagocytic Lymphohistiocytoses
def: "Hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder, is characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained. Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation. (OMIM)" []
synonym: "familial erythrophagocytic lymphohistiocytoses" EXACT []
synonym: "familial erythrophagocytic lymphohistiocytosis" EXACT []
synonym: "familial hemophagocytic histiocytoses" EXACT []
synonym: "familial hemophagocytic histiocytosis" EXACT []
synonym: "familial hemophagocytic lymphohistiocytosis" EXACT []
synonym: "familial hemophagocytic reticuloses" EXACT []
synonym: "Familial Hemophagocytic Reticulosis" EXACT []
synonym: "familial histiocytic reticuloses" EXACT []
synonym: "familial histiocytic reticulosis" EXACT []
synonym: "FEL" EXACT []
synonym: "FHL" EXACT []
synonym: "FHLH" EXACT []
xref: NCI:C61276
is_a: DOID:0050120 ! hemophagocytic lymphohistiocytosis
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9004405
name: Intradermal Nevus
def: "A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" [MESH:D018330]
synonym: "Intradermal Nevi" EXACT []
xref: EFO:1000995
xref: MESH:D018330
is_a: DOID:9002969 ! Nevus

[Term]
id: DOID:9004407
name: Permanent Neonatal Diabetes Mellitus 4
synonym: "PNDM4" EXACT []
xref: MIM:618858
is_a: DOID:0060639 ! permanent neonatal diabetes mellitus
created_by: mtutaj
creation_date: 2020-05-01T10:28:50Z

[Term]
id: DOID:9004408
name: Dilated Cardiomyopathy, Right Ventricular
alt_id: RDO:0014660
xref: MESH:C566255
is_a: DOID:12930 ! dilated cardiomyopathy

[Term]
id: DOID:9004409
name: Abderhalden-Kaufmann-Lignac Syndrome
synonym: "Abderhalden-Lignac-Kaufmann disease" EXACT []
xref: MESH:C535335
is_a: DOID:1064 ! cystinosis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9004410
name: Threatened Abortion
def: "UTERINE BLEEDING from a GESTATION of less than 20 weeks without any CERVICAL DILATATION. It is characterized by vaginal bleeding, lower back discomfort, or midline pelvic cramping and a risk factor for MISCARRIAGE." []
synonym: "Threatened Abortions" EXACT []
xref: MESH:D000033
is_a: DOID:9003281 ! Spontaneous Abortions

[Term]
id: DOID:9004411
name: Atrioventricular Septal Defect and Common Atrioventricular Junction
is_a: DOID:0050651 ! atrioventricular septal defect
created_by: slaulede
creation_date: 2020-01-07T13:47:28Z

[Term]
id: DOID:9004412
name: Osteoma
def: "A benign tumor composed of bone tissue or a hard tumor of bonelike structure developing on a bone (homoplastic osteoma) or on other structures (heteroplastic osteoma). (From Dorland, 27th ed)" [MESH:D010016]
synonym: "Osteomas" EXACT []
xref: EFO:0002423
xref: MESH:D010016
is_a: DOID:9007603 ! Bone Tissue Neoplasms

[Term]
id: DOID:9004413
name: Pre-Excitation, Mahaim-Type
def: "A form of ventricular pre-excitation characterized by a normal PR interval and a long QRS interval with an initial slow deflection (delta wave). In this syndrome, the atrial impulse travel to the ventricle via the MAHAIM FIBERS which connect ATRIOVENTRICULAR NODE directly to the right ventricle wall (NODOVENTRICULAR ACCESSORY PATHWAY) or to the RIGHT BUNDLE BRANCH OF HIS (nodofascicular accessory pathway)." [MESH:D011227]
synonym: "Mahaim Type Preexcitation" EXACT []
synonym: "Nodofascicular Mahaim Type Pre Excitation" EXACT []
synonym: "Nodoventricular Mahaim Type Pre Excitation" EXACT []
xref: MESH:D011227
xref: RDO:0006400
is_a: DOID:9002491 ! Pre-Excitation Syndromes

[Term]
id: DOID:9004414
name: Atopic Dermatitis 1
alt_id: MIM:603165
synonym: "ATOD1" NARROW []
synonym: "ECZEMA, ATOPIC DERMATITIS, ATOPIC, 1" NARROW []
xref: MESH:C566404
is_a: DOID:3310 ! atopic dermatitis

[Term]
id: DOID:9004415
name: Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis
alt_id: MIM:600273
synonym: "CHROMOSOME 16p13.3 DELETION SYNDROME, DISTAL" EXACT []
synonym: "PKDTS" EXACT []
synonym: "Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis" EXACT []
synonym: "Tuberous sclerosis-polycystic kidney disease contiguous gene syndrome" EXACT []
xref: MESH:C536328
xref: NCI:C177539
is_a: DOID:0110861 ! autosomal recessive polycystic kidney disease
is_a: DOID:13515 ! tuberous sclerosis

[Term]
id: DOID:9004416
name: Paroxysmal Ventricular Fibrillation
synonym: "Idiopathic ventricular fibrillation" EXACT []
synonym: "Paroxysmal familial ventricular fibrillation" EXACT []
synonym: "TO" NARROW []
xref: MESH:C537182
xref: RDO:0002970
is_a: DOID:9000184 ! Ventricular Fibrillation

[Term]
id: DOID:9004419
name: Pseudotrisomy 13 Syndrome
alt_id: MIM:264480
synonym: "holoprosencephaly-polydactyly syndrome" EXACT []
synonym: "Pseudo trisomy 13 syndrome" EXACT []
xref: MESH:C535829
xref: NCI:C125418
is_a: DOID:1148 ! polydactyly
is_a: DOID:4621 ! holoprosencephaly
is_a: DOID:9002427 ! Fetal Macrosomia
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9004420
name: Periventricular Nodular Heterotopia 5
alt_id: MIM:612881
alt_id: RDO:0012072
synonym: "CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL" EXACT []
synonym: "Periventricular Heterotopia associated with Chromosome 5q Deletion" EXACT []
synonym: "PVNH5" EXACT []
xref: MESH:C567876
is_a: DOID:0050454 ! periventricular nodular heterotopia

[Term]
id: DOID:9004421
name: Intra-Abdominal Hypertension
def: "Pathological elevation of intra-abdominal pressure (>12 mm Hg). It may develop as a result of SEPSIS; PANCREATITIS; capillary leaks, burns, or surgery. When the pressure is higher than 20 mm Hg, often with end-organ dysfunction, it is referred to as abdominal compartment syndrome." [MESH:D059325]
synonym: "Abdominal Compartment Syndrome" EXACT []
synonym: "Abdominal Compartment Syndromes" EXACT []
synonym: "Intraabdominal Hypertension" EXACT []
synonym: "Intra-Abdominal Hypertensions" EXACT []
synonym: "Intraabdominal Hypertensions" EXACT []
xref: MESH:D059325
xref: RDO:0010007
is_a: DOID:682 ! compartment syndrome

[Term]
id: DOID:9004422
name: Chagas Cardiomyopathy
def: "A disease of the CARDIAC MUSCLE developed subsequent to the initial protozoan infection by TRYPANOSOMA CRUZI. After infection, less than 10% develop acute illness such as MYOCARDITIS (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced CHAGAS DISEASE include conduction defects (HEART BLOCK) and CARDIOMEGALY." [MESH:D002598]
synonym: "Cardiovascular Trypanosomiasis" EXACT []
synonym: "Myocarditis, Chagas" EXACT []
xref: EFO:0005529
xref: MESH:D002598
xref: RDO:0005179
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:12140 ! Chagas disease

[Term]
id: DOID:9004424
name: Syndactyly-Polydactyly-Earlobe Syndrome
xref: MESH:C566091
xref: MIM:186350
xref: MONDO:0008517
is_a: DOID:11193 ! syndactyly
is_a: DOID:1148 ! polydactyly
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9004425
name: Empyema
def: "Presence of pus in a hollow organ or body cavity." [MESH:D004653]
xref: EFO:0003097
xref: MESH:D004653
is_a: DOID:9005889 ! Suppuration

[Term]
id: DOID:9004426
name: Lethal Congenital Contracture Syndrome 5
synonym: "LCCS5" EXACT []
synonym: "lethal centronuclear myopathy, autosomal recessive" EXACT []
xref: MIM:615368
is_a: DOID:0060558 ! lethal congenital contracture syndrome

[Term]
id: DOID:9004429
name: Neurodevelopmental Disorders
def: "These are a group of conditions with onset in the developmental period. The disorders typically manifest early in development, often before the child enters grade school, and are characterized by developmental deficits that produce impairments of personal, social, academic, or occupational functioning. (From DSM-V)." [MESH:D065886]
synonym: "ARHGEF6-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "ARHGEF6-RELATED CONDITION" BROAD []
synonym: "child mental disorder" EXACT []
synonym: "child mental disorders" EXACT []
synonym: "CNOT9-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "COMPLEX NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT CONGENITAL ANOMALIES" BROAD []
synonym: "CTR9-RELATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "DDX23-RELATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "disorders usually diagnosed in infancy, childhood or adolescence" EXACT []
synonym: "DNAH14-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "DNHD1-RELATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "EEF1D-ASSOCIATED NEURODEVELOPMENTAL SYNDROME" NARROW []
synonym: "EZH1-NEURODEVELOPMENTAL SYNDROME" NARROW []
synonym: "FBRSL1-ASSOCIATED NEURODEVELOPMENTAL SYNDROME" NARROW []
synonym: "FRYL-RELATED DEVELOPMENTAL DISORDER" NARROW []
synonym: "GRID1-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "JMJD1C-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "JMJD1C-RELATED CONDITION" NARROW []
synonym: "JMJD1C-RELATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "KIF21B-RELATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "KLF7-RELATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "Mental Disorders Diagnosed in Childhood" EXACT []
synonym: "MYCBP2-ASSOCIATED DISORDER" NARROW []
synonym: "NCKAP1-RELATED DISORDER" NARROW []
synonym: "NEURODEVELOPMENTAL ABNORMALITY" EXACT []
synonym: "neurodevelopmental disorder" EXACT []
synonym: "NOVEL PIP5K1C-RELATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "PIP5K1C-RELATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "PRKAR1B-RELATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "SCAF4-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "SHANK1-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "SYNCRIP-RELATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "SYT1-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "TOP2B-RELATED NEURODEVELOPMENTAL DISORDER" NARROW []
synonym: "VPS25-RELATED NEURODEVELOPMENTAL DELAY" NARROW []
synonym: "YWHAZ-RELATED NEURODEVELOPMENTAL SYNDROME" NARROW []
synonym: "ZNF292-RELATED NEURODEVELOPMENTAL CONDITION" NARROW []
xref: EFO:0010642
xref: MESH:D065886
is_a: DOID:150 ! disease of mental health
is_a: DOID:9008582 ! Developmental Disease

[Term]
id: DOID:9004430
name: Hyperhidrosis Palmaris Et Plantaris
synonym: "HYPERHIDROSIS, PRIMARY PALMAR" EXACT []
synonym: "HYPRPP" EXACT []
xref: MESH:C563185
xref: MIM:144110
xref: MONDO:0007754
is_a: DOID:9004062 ! Hyperhidrosis

[Term]
id: DOID:9004431
name: Ghose Sachdev Kumar Syndrome
def: "Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma. (MESH)" []
xref: MESH:C537803
is_a: DOID:10629 ! microphthalmia
is_a: DOID:1686 ! glaucoma
is_a: DOID:225 ! syndrome
is_a: DOID:8501 ! fundus dystrophy

[Term]
id: DOID:9004432
name: Parasitic Eye Infections
alt_id: RDO:0006731
def: "Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites." [MESH:D015822]
synonym: "Parasitic Eye Infection" EXACT []
synonym: "Parasitic Ocular Infection" EXACT []
synonym: "Parasitic Ocular Infections" EXACT []
xref: MESH:D015822
is_a: DOID:1398 ! parasitic infectious disease
is_a: DOID:9008201 ! Eye Infections

[Term]
id: DOID:9004433
name: Hamartoma, Precalcaneal Congenital Fibrolipomatous
alt_id: MIM:609808
xref: MESH:C565226
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:9007253 ! Hamartoma

[Term]
id: DOID:9004434
name: WHITE-KERNOHAN SYNDROME
def: "This disease is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, hypotonia, and characteristic facial features." [MIM:619426]
synonym: "GLOBAL DEVELOPMENTAL DELAY, HYPOTONIA, AND CHARACTERISTIC FACIAL FEATURES" EXACT []
synonym: "WHIKERS" EXACT []
xref: MIM:619426
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2021-08-26T10:13:56Z

[Term]
id: DOID:9004435
name: Erythropoietic Protoporphyria 1
def: "Erythropoietic protoporphyria-1 (EPP1) is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase (FECH), the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels. EPP1 is caused by compound heterozygous or homozygous mutation in FECH on chromosome 18q21. The disorder most often results from inheritance of a null FECH allele in trans with a low-expression FECH mutation prevalent in some populations, resembling autosomal dominant inheritance with incomplete penetrance. (OMIM)" []
synonym: "AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA" BROAD []
synonym: "EPP1" EXACT []
synonym: "INCREASED ERYTHROCYTE PROTOPORPHYRIN CONCENTRATION" RELATED []
xref: MIM:177000
is_a: DOID:13270 ! erythropoietic protoporphyria
created_by: mtutaj
creation_date: 2019-03-26T08:49:35Z

[Term]
id: DOID:9004436
name: Atelosteogenesis Type 3
alt_id: MIM:108721
synonym: "AO3" EXACT []
synonym: "AOIII" EXACT []
synonym: "Atelosteogenesis Type III" EXACT []
synonym: "FLNB-related spectrum disorder" BROAD []
xref: MESH:C579928
is_a: DOID:0050648 ! atelosteogenesis
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9004437
name: Nonkeratan-Sulfate-Excreting Morquio Syndrome
alt_id: MIM:252300
synonym: "Morquio Syndrome C" EXACT []
synonym: "Morquio syndrome, nonkeratan-sulfate-excreting type" EXACT []
synonym: "Morquio Syndrome, Nonkeratosulfate-Excreting Type" EXACT []
xref: MESH:C536247
is_a: DOID:12804 ! mucopolysaccharidosis IV
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9004438
name: Neutral Lipid Storage Disease with Myopathy
alt_id: MIM:610717
synonym: "neutral lipid storage disease without ichthyosis" EXACT []
synonym: "NLSDM" EXACT []
xref: MESH:C565192
is_a: DOID:0050729 ! Chanarin-Dorfman syndrome
is_a: DOID:423 ! myopathy

[Term]
id: DOID:9004439
name: Congenital Lp(A) Deficiency
alt_id: MIM:152200
alt_id: RDO:0012831
synonym: "Lipoprotein(A) Deficiency, Congenital" EXACT []
xref: MESH:C563618
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:9004441
name: Experimental Leukemia
alt_id: RDO:0004956
def: "Leukemia induced experimentally in animals by exposure to leukemogenic agents, such as VIRUSES; RADIATION; or by TRANSPLANTATION of leukemic tissues." [MESH:D007942]
synonym: "Animal Leukemia Model" EXACT []
synonym: "Animal Leukemia Models" EXACT []
synonym: "Experimental Leukemias" EXACT []
xref: MESH:D007942
is_a: DOID:1240 ! leukemia
is_a: DOID:9002170 ! Experimental Neoplasms

[Term]
id: DOID:9004442
name: Diffuse Brain Injuries
def: "Brain injuries occurring over a wide area instead of specific focal area." [MESH:D000070625]
synonym: "Diffuse Axonal Brain Injury" EXACT []
synonym: "Diffuse Brain Injury" EXACT []
synonym: "Diffuse Cerebral Injuries" EXACT []
synonym: "Diffuse Cerebral Injury" EXACT []
xref: MESH:D000070625
is_a: DOID:9000998 ! Brain Injuries

[Term]
id: DOID:9004443
name: Intractable Pain
def: "Persistent pain that is refractory to some or all forms of treatment." [MESH:D010148]
synonym: "intractable pains" EXACT []
synonym: "Refractory Pain" EXACT []
synonym: "refractory pains" EXACT []
xref: MESH:D010148
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9004444
name: Senior-Loken Syndrome 8
synonym: "SLSN8" EXACT []
xref: MIM:616307
is_a: DOID:0050576 ! Senior-Loken syndrome
created_by: rgd
creation_date: 2017-04-04T00:00:00Z

[Term]
id: DOID:9004445
name: Macroepiphyseal Dysplasia, McAlister Coe Type
alt_id: MIM:248010
synonym: "Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance" EXACT []
synonym: "McAlister Coe Whyte syndrome" EXACT []
xref: MESH:C537721
is_a: DOID:0080006 ! bone development disease
is_a: DOID:11476 ! osteoporosis
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9004446
name: Alazami-Yuan Syndrome
synonym: "ALYUS" EXACT []
xref: MIM:617126
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:225 ! syndrome
is_a: DOID:540 ! strabismus
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004447
name: Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability
xref: RDO:9001123
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:9003816 ! Macrocephaly
created_by: rgd
creation_date: 2015-09-21T00:00:00Z

[Term]
id: DOID:9004448
name: Slow Virus Diseases
def: "Diseases of viral origin, characterized by incubation periods of months to years, insidious onset of clinical manifestations, and protracted clinical course. Though the disease process is protracted, viral multiplication may not be unusually slow. Conventional viruses produce slow virus diseases such as SUBACUTE SCLEROSING PANENCEPHALITIS, progressive multifocal leukoencephalopathy (LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL), and AIDS. PRION DISEASES were originally considered part of this group." [MESH:D012897]
synonym: "Slow Virus Disease" EXACT []
xref: MESH:D012897
xref: RDO:0004715
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9004449
name: Chromosome 6, Monosomy 6q1
synonym: "Deletion 6q1" EXACT []
synonym: "Monosomy 6q1" EXACT []
xref: MESH:C537808
xref: RDO:0003712
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9004450
name: Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type)
synonym: "BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY" EXACT []
synonym: "STRIATAL NECROSIS, BILATERAL, AND PROGRESSIVE POLYNEUROPATHY" EXACT []
synonym: "THMD4" EXACT []
xref: MIM:613710
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9002955 ! Nerve Degeneration

[Term]
id: DOID:9004451
name: Ovine Pulmonary Adenomatosis
alt_id: RDO:0006436
def: "A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by JAAGSIEKTE SHEEP RETROVIRUS." [MESH:D011648]
synonym: "Jaagsiekte" EXACT []
synonym: "Ovine Pulmonary Adenomatoses" EXACT []
synonym: "Ovine Pulmonary Carcinoma" EXACT []
synonym: "Ovine Pulmonary Carcinomas" EXACT []
xref: MESH:D011648
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:9004886 ! Tumor Virus Infections
is_a: DOID:9006097 ! Sheep Diseases
is_a: DOID:9006644 ! Retroviridae Infections

[Term]
id: DOID:9004452
name: Townes-Brocks-Branchiootorenal-Like Syndrome
xref: MESH:C566272
is_a: DOID:0050887 ! Townes-Brocks syndrome

[Term]
id: DOID:9004453
name: Orthostatic Intolerance
alt_id: MIM:604715
def: "Symptoms of cerebral hypoperfusion or autonomic overaction which develop while the subject is standing, but are relieved on recumbency. Types of this include NEUROCARDIOGENIC SYNCOPE; POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME; and neurogenic ORTHOSTATIC HYPOTENSION. (From Noseworthy, JH., Neurological Therapeutics Principles and Practice, 2007, p2575-2576)" [MESH:D054971]
synonym: "MITRAL VALVE PROLAPSE SYNDROME" EXACT []
synonym: "SLC6A2-related disorder" BROAD []
xref: EFO:1000645
xref: MESH:D054971
is_a: DOID:11569 ! neurocirculatory asthenia
is_a: DOID:9003171 ! Primary Dysautonomias
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9004454
name: Multinodular Goiter 1
alt_id: MIM:138800
synonym: "Euthyroid Goiter" EXACT []
synonym: "Goiter, multinodular 1, with or without sertoli-leydig cell tumors" EXACT []
synonym: "GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION" EXACT []
synonym: "MNG1" EXACT []
synonym: "MULTINODULAR GOITER, ADOLESCENT" EXACT []
synonym: "SIMPLE GOITER" EXACT []
xref: MESH:C562732
xref: ORDO:276399
is_a: DOID:0050489 ! multinodular goiter
created_by: mtutaj
creation_date: 2022-02-10T16:10:36Z

[Term]
id: DOID:9004455
name: Femoral Hernia
def: "A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL." [MESH:D006550]
synonym: "Femoral Hernias" EXACT []
xref: EFO:1001791
xref: MESH:D006550
is_a: DOID:9004681 ! Abdominal Hernia

[Term]
id: DOID:9004456
name: Pyometra
def: "An accumulation of PUS in the uterine cavity (UTERUS). Pyometra generally indicates the presence of infections." [MESH:D055112]
synonym: "Pyometras" EXACT []
xref: MESH:D055112
xref: RDO:0007701
is_a: DOID:345 ! uterine disease

[Term]
id: DOID:9004457
name: Susac Syndrome
def: "A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss." [MESH:D055955]
synonym: "Retinocochleocerebral Vasculopathies" EXACT []
synonym: "Retinocochleocerebral Vasculopathy" EXACT []
synonym: "Susac's Syndrome" EXACT []
synonym: "Susacs Syndrome" EXACT []
xref: EFO:1001856
xref: MESH:D055955
is_a: DOID:225 ! syndrome
is_a: DOID:2742 ! auditory system disease
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:8483 ! retinal artery occlusion
is_a: DOID:9000343 ! Vision Disorders
is_a: DOID:9001020 ! Eye Manifestations
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9004458
name: Hematocolpos
def: "A blood-filled VAGINA that is obstructed." [MESH:D006399]
xref: MESH:D006399
is_a: DOID:121 ! vaginal disease

[Term]
id: DOID:9004459
name: Trematode Infections
def: "These are infections caused by infestation with worms of the class Trematoda." [MESH:D014201]
synonym: "trematode Infection" EXACT []
xref: EFO:1001438
xref: MESH:D014201
is_a: DOID:883 ! parasitic helminthiasis infectious disease
created_by: slaulede
creation_date: 2022-09-29T15:38:23Z

[Term]
id: DOID:9004460
name: Maxillofacial Injuries
def: "General or unspecified injuries involving the face and jaw (either upper, lower, or both)." [MESH:D008446]
synonym: "Maxillofacial Injury" EXACT []
xref: MESH:D008446
is_a: DOID:9001053 ! Facial Injuries

[Term]
id: DOID:9004461
name: Familial Persistent Stuttering 2
alt_id: MIM:609261
alt_id: RDO:0009299
alt_id: RDO:0012934
synonym: "STUT2" EXACT []
xref: MESH:C563756
is_a: DOID:0060243 ! stuttering

[Term]
id: DOID:9004462
name: Atrophy
def: "Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes." [MESH:D001284]
synonym: "Atrophies" EXACT []
xref: EFO:1000096
xref: MESH:D001284
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9004464
name: Skin Neoplasms
def: "Tumors or cancer of the SKIN." [MESH:D012878]
synonym: "neoplasm of skin" EXACT []
synonym: "neoplasm of skin by site" EXACT []
synonym: "skin neoplasm" EXACT []
synonym: "tumor of the skin" EXACT []
xref: EFO:0004198
xref: MESH:D012878
is_a: DOID:37 ! skin disease
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:9004465
name: Progressive Lymphoid System Deterioration
alt_id: MIM:247630
xref: MESH:C565430
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9004467
name: Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment
def: "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, facial dysmorphism, and microcephaly. Caused by compound heterozygous mutation in the DOHH gene on chromosome 19p13." [MIM:620066]
synonym: "DOHH-RELATED CONDITION" EXACT []
synonym: "DOHH RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
synonym: "NEDMVIC" EXACT []
xref: MIM:620066
is_a: DOID:10907 ! microcephaly
is_a: DOID:9000343 ! Vision Disorders
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9277 ! primary cerebellar degeneration
created_by: mtutaj
creation_date: 2022-11-21T12:08:27Z

[Term]
id: DOID:9004468
name: Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart
def: "An autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. (OMIM)" []
synonym: "NEDBEH" EXACT []
synonym: "RERE-RELATED CONDITION" EXACT []
xref: EFO:0009645
xref: MIM:616975
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9004470
name: Craniosynostosis 4
synonym: "CRS4" EXACT []
xref: MIM:600775
is_a: DOID:2340 ! craniosynostosis
created_by: mtutaj
creation_date: 2019-03-26T13:07:46Z

[Term]
id: DOID:9004471
name: VISS syndrome
def: "This disease is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay." [MIM:619472]
synonym: "IPO8-RELATED AORTOPATHY" EXACT []
synonym: "IPO8-RELATED CONDITION" EXACT []
synonym: "VASCULAR ANEURYSM, IMMUNE DYSREGULATION, SKELETAL ANOMALIES, AND SKIN AND JOINT LAXITY" EXACT []
synonym: "VISS" EXACT []
xref: MIM:619472
xref: NCI:C198610
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9008582 ! Developmental Disease
created_by: slaulede
creation_date: 2021-10-21T09:53:42Z

[Term]
id: DOID:9004472
name: Mental Health Wellness 2
synonym: "MHW2" EXACT []
xref: MIM:603664
xref: RDO:0008897
is_a: DOID:3312 ! bipolar disorder

[Term]
id: DOID:9004473
name: Monocytosis
def: "An abnormal increase in the number of monocytes in the circulating blood. [Merriam-Webster]" []
is_a: DOID:9001039 ! Leukocytosis
created_by: rgd
creation_date: 2016-02-19T00:00:00Z

[Term]
id: DOID:9004474
name: Bilateral Medial Tibial Torsion
alt_id: MIM:188800
xref: MESH:C566045
is_a: DOID:9000314 ! Torsion Abnormality

[Term]
id: DOID:9004476
name: Retroperitoneal Neoplasms
alt_id: RDO:0000739
def: "New abnormal growth of tissue in the RETROPERITONEAL SPACE." [MESH:D012186]
synonym: "neoplasm of retroperitoneum" EXACT []
synonym: "neoplasm of the retroperitoneum" EXACT []
synonym: "retroperitoneal neoplasm" EXACT []
synonym: "tumor of retroperitoneum" EXACT []
xref: MESH:D012186
is_a: DOID:9003078 ! Abdominal Neoplasms

[Term]
id: DOID:9004477
name: Borrelia Infections
def: "Infections with bacteria of the genus BORRELIA." [MESH:D001899]
synonym: "Borrelia Infection" EXACT []
xref: EFO:1000842
xref: MESH:D001899
is_a: DOID:9002423 ! Spirochaetales Infections
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9004478
name: Islet Cell Tumor Syndrome
synonym: "Bilateral pheochromocytoma and islet cell adenoma of the pancreas" EXACT []
synonym: "Chromaffinoma" EXACT []
synonym: "Familial islet cell tumors" EXACT []
synonym: "Familial pheochromocytoma" EXACT []
xref: MESH:C531777
is_a: DOID:1799 ! islet cell tumor
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9004479
name: TDP-43 Proteinopathies
def: "Diseases characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease." [MESH:D057177]
synonym: "TDP-43 proteinopathy" EXACT []
xref: MESH:D057177
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:9000842 ! Proteostasis Deficiencies

[Term]
id: DOID:9004480
name: Foveal Hypoplasia with Anterior Segment Anomalies
xref: MESH:C565006
xref: RDO:0013768
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9004481
name: Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type
alt_id: MIM:154570
synonym: "Phosphodiester Glycoside Deficiency" EXACT []
xref: MESH:C563601
xref: MONDO:0007945
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9004482
name: Glycogen Storage Disease IIIB
synonym: "Glycogen Storage Disease, Type IIIb" EXACT []
synonym: "GSD IIIB" EXACT []
xref: MESH:C566890
is_a: DOID:2748 ! glycogen storage disease III

[Term]
id: DOID:9004484
name: Sepsis
def: "Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK." [MESH:D018805]
synonym: "Blood Poisoning" EXACT []
synonym: "blood poisonings" EXACT []
synonym: "Pyaemia" EXACT []
synonym: "Pyaemias" EXACT []
synonym: "Pyemia" EXACT []
synonym: "Pyemias" EXACT []
synonym: "Pyohemia" EXACT []
synonym: "Pyohemias" EXACT []
synonym: "SEPSIS, SUSCEPTIBILITY TO" RELATED []
synonym: "Septicemia" EXACT []
synonym: "Septicemias" EXACT []
synonym: "septic shock" NARROW []
synonym: "severe sepsis" NARROW []
xref: EFO:0001420
xref: MESH:D018805
is_a: DOID:9000169 ! Systemic Inflammatory Response Syndrome

[Term]
id: DOID:9004485
name: Cataract, Pulverulent
xref: MESH:C563426
is_a: DOID:83 ! cataract
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9004486
name: Drug-induced Neutropenia
def: "A significant reduction in NEUTROPHIL count associated with CHEMOTHERAPY or other drug treatment." []
is_a: DOID:1227 ! neutropenia
is_a: DOID:9001142 ! Drug-Induced Agranulocytosis
created_by: rgd
creation_date: 2016-06-10T00:00:00Z

[Term]
id: DOID:9004488
name: Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality
alt_id: MIM:219721
xref: MESH:C565658
is_a: DOID:1059 ! intellectual disability
is_a: DOID:13382 ! megaloblastic anemia
is_a: DOID:1485 ! cystic fibrosis
is_a: DOID:9008114 ! Helicobacter Infections

[Term]
id: DOID:9004489
name: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY
def: "An autosomal recessive complex neurodegenerative disorder characterized by congenital neurosensory deafness followed by onset of neurodegenerative symptoms, including pyramidal signs and cognitive decline, in young adulthood. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy." [MIM:619196]
synonym: "congenital deafness and adult-onset progressive leukoencephalopathy" EXACT []
synonym: "DEAPLE" EXACT []
xref: MIM:619196
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9008681 ! Deafness
created_by: slaulede
creation_date: 2021-04-06T18:09:33Z

[Term]
id: DOID:9004490
name: Rhizomelic Syndrome
alt_id: MIM:268250
synonym: "Familial rhizomelic dysplasia" EXACT []
xref: MESH:C537611
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9004491
name: Anonychia Onychodystrophy
synonym: "Absent nails and dystrophic nails" EXACT []
xref: MESH:C536378
xref: RDO:0001941
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9004492
name: Familial Amyloidosis
alt_id: RDO:0000616
def: "Diseases in which there is a familial pattern of AMYLOIDOSIS." [MESH:D028226]
synonym: "Amyloidosis - hereditaries" EXACT []
synonym: "Amyloidosis hereditary" EXACT []
synonym: "Familial Amyloidoses" EXACT []
synonym: "Hereditary Amyloidoses" EXACT []
xref: MESH:D028226
xref: NCI:C84555
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9120 ! amyloidosis

[Term]
id: DOID:9004493
name: Camptocormia
synonym: "Bent spine" EXACT []
synonym: "Bent Spine Syndrome" EXACT []
synonym: "Camptocormism" EXACT []
xref: MESH:C537968
is_a: DOID:12377 ! spinal muscular atrophy
is_a: DOID:9002608 ! Spinal Curvatures
is_a: DOID:9004757 ! Axial Myopathy, Late-Onset

[Term]
id: DOID:9004494
name: Bidirectional Tachycardia
synonym: "Bidirectional ventricular tachycardia" EXACT []
xref: MESH:C535438
xref: RDO:0000549
is_a: DOID:9002554 ! Tachycardia

[Term]
id: DOID:9004495
name: Faciocardiorenal Syndrome
alt_id: MIM:227280
synonym: "Eastman Bixler syndrome" EXACT []
xref: MESH:C536388
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate

[Term]
id: DOID:9004496
name: Hypertaurinuric Cardiomyopathy
alt_id: MIM:145350
xref: MESH:C564157
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9004497
name: Floriform Cataract
xref: MESH:C566160
is_a: DOID:83 ! cataract
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9004498
name: Cumulative Trauma Disorders
def: "Harmful and painful condition caused by overuse or overexertion of some part of the musculoskeletal system, often resulting from work-related physical activities. It is characterized by inflammation, pain, or dysfunction of the involved joints, bones, ligaments, and nerves." [MESH:D012090]
synonym: "Cumulative Trauma Disorder" EXACT []
synonym: "Overuse Injuries" EXACT []
synonym: "Overuse Injury" EXACT []
synonym: "Overuse Syndrome" EXACT []
synonym: "Overuse Syndromes" EXACT []
synonym: "Repetition Strain Injuries" EXACT []
synonym: "Repetition Strain Injury" EXACT []
synonym: "Repetitive Motion Disorder" EXACT []
synonym: "Repetitive Motion Disorders" EXACT []
synonym: "Repetitive Strain Injuries" EXACT []
synonym: "Repetitive Strain Injury" EXACT []
synonym: "Repetitive Stress Injuries" EXACT []
synonym: "Repetitive Stress Injury" EXACT []
xref: MESH:D012090
xref: RDO:0005142
is_a: DOID:9000934 ! Sprains and Strains

[Term]
id: DOID:9004499
name: Noncirrhotic Portal Hypertension 2
def: "An autosomal recessive disorder characterized by signs of liver dysfunction that become apparent in the first decades of life. Caused by homozygous mutation in the GIMAP5 gene on chromosome 7q36. (OMIM)" []
synonym: "NCPH2" EXACT []
xref: MIM:619463
is_a: DOID:10762 ! portal hypertension
created_by: mtutaj
creation_date: 2021-08-06T16:19:35Z

[Term]
id: DOID:9004500
name: Mesomelic Dysplasia, Savarirayan Type
alt_id: MIM:605274
synonym: "Mesomelic Dysplasia with Absent Fibulas and Triangular Tibias" EXACT []
xref: MESH:C565349
is_a: DOID:9009006 ! Mesomelic Dysplasia

[Term]
id: DOID:9004501
name: Meningeal Tuberculosis
def: "A form of bacterial meningitis caused by MYCOBACTERIUM TUBERCULOSIS or rarely MYCOBACTERIUM BOVIS. The organism seeds the meninges and forms microtuberculomas which subsequently rupture. The clinical course tends to be subacute, with progressions occurring over a period of several days or longer. Headache and meningeal irritation may be followed by SEIZURES, cranial neuropathies, focal neurologic deficits, somnolence, and eventually COMA. The illness may occur in immunocompetent individuals or as an OPPORTUNISTIC INFECTION in the ACQUIRED IMMUNODEFICIENCY SYNDROME and other immunodeficiency syndromes. (From Adams et al., Principles of Neurology, 6th ed, pp717-9)" [MESH:D014390]
synonym: "meningeal tuberculoses" EXACT []
synonym: "TB Meningitides" EXACT []
synonym: "TB Meningitis" EXACT []
synonym: "Tubercular Meningitides" EXACT []
synonym: "Tubercular Meningitis" EXACT []
synonym: "Tuberculosis Meningitides" EXACT []
synonym: "Tuberculosis Meningitis" EXACT []
synonym: "Tuberculous Hypertrophic Pachymeningitides" EXACT []
synonym: "Tuberculous Hypertrophic Pachymeningitis" EXACT []
synonym: "Tuberculous Meningitides" EXACT []
synonym: "tuberculous meningitis" EXACT []
xref: EFO:1000039
xref: MESH:D014390
is_a: DOID:1638 ! central nervous system tuberculosis
is_a: DOID:9470 ! bacterial meningitis

[Term]
id: DOID:9004502
name: Patterson Pseudoleprechaunism Syndrome
alt_id: MIM:169170
synonym: "Patterson's leprechaunoid syndrome" EXACT []
xref: MESH:C536310
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
is_a: DOID:9003984 ! Hyperpigmentation
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004503
name: Hysteria
def: "Historical term for a chronic, but fluctuating, disorder beginning in early life and characterized by recurrent and multiple somatic complaints not apparently due to physical illness. This diagnosis is not used in contemporary practice." [MESH:D007046]
synonym: "Hysterical Neuroses" EXACT []
xref: MESH:D007046
is_a: DOID:334 ! histrionic personality disorder

[Term]
id: DOID:9004504
name: Bonneau Syndrome
alt_id: MIM:263630
synonym: "Polysyndactyly with Cardiac Malformation" EXACT []
xref: MESH:C564875
is_a: DOID:11193 ! syndactyly
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9004505
name: Visceral Heterotaxy 3, Autosomal
alt_id: MIM:606325
synonym: "HTX3" EXACT []
xref: MESH:C565237
is_a: DOID:0050545 ! visceral heterotaxy

[Term]
id: DOID:9004506
name: VITAMIN D-DEPENDENT RICKETS, TYPE 3
def: "An autosomal disease characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to the parent molecule as well as activated forms of vitamin D." [MIM:619073]
synonym: "VDDR3" EXACT []
synonym: "Vitamin D-Dependent Rickets 3" EXACT []
synonym: "Vitamin D-dependent rickets-3" EXACT []
xref: MIM:619073
is_a: DOID:0080883 ! vitamin D-dependent rickets
created_by: mtutaj
creation_date: 2020-10-27T16:39:37Z

[Term]
id: DOID:9004507
name: Hirsutism
def: "A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth." [MESH:D006628]
xref: MESH:D006628
is_a: DOID:421 ! hair disease
is_a: DOID:9005330 ! Virilism

[Term]
id: DOID:9004508
name: Mucocele
alt_id: OMIA:001524
def: "A retention cyst of the salivary gland, lacrimal sac, paranasal sinuses, appendix, or gallbladder. (Stedman, 26th ed)" [MESH:D009078]
synonym: "Gallbladder mucoceles" NARROW []
synonym: "Mucoceles" EXACT []
xref: MESH:D009078
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9004509
name: Otoonychoperoneal Syndrome
alt_id: MIM:259780
xref: MESH:C564912
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9004510
name: Microgastria Limb Reduction Defect
alt_id: MIM:156810
synonym: "Congenital microgastria and limb reduction defects" EXACT []
synonym: "Microgastria-limb reduction defects association" EXACT []
xref: MESH:C537554
is_a: DOID:10629 ! microphthalmia
is_a: DOID:1931 ! hypothalamic disease
is_a: DOID:4621 ! holoprosencephaly
is_a: DOID:9007253 ! Hamartoma

[Term]
id: DOID:9004511
name: Congenital Disorder of Glycosylation Type IIz
def: "An autosomal recessive disorder characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities. Caused by homozygous mutation in the CAMLG gene on chromosome 5q23." [MIM:620201]
synonym: "CDG2Z" EXACT []
synonym: "CDG IIz" EXACT []
synonym: "CDGIIZ" EXACT []
xref: MIM:620201
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
created_by: mtutaj
creation_date: 2023-01-20T08:14:48Z

[Term]
id: DOID:9004512
name: Craniosynostosis 2
alt_id: MIM:604757
synonym: "craniosynostosis, Boston-type" EXACT []
synonym: "craniosynostosis, type 2" EXACT []
synonym: "CRS2" EXACT []
synonym: "CSB" EXACT []
synonym: "Warman Mulliken Hayward syndrome" EXACT []
xref: MESH:C565753
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:9004513
name: Craniosynostosis with Ocular Abnormalities and Hallucal Defects
alt_id: MIM:608279
xref: MESH:C564263
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9004514
name: Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia
alt_id: MIM:606049
synonym: "AOCH" EXACT []
xref: MESH:C535656
is_a: DOID:1283 ! enterocele
is_a: DOID:2449 ! acromegaly
is_a: DOID:674 ! cleft palate
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004515
name: Left Ventricular Noncompaction 7
alt_id: RDO:9000514
synonym: "LVNC7" EXACT []
synonym: "MIB1-RELATED CONDITION" EXACT []
xref: MIM:615092
xref: NCI:C157266
is_a: DOID:0060480 ! left ventricular noncompaction

[Term]
id: DOID:9004516
name: Progressive Deafness with Stapes Fixation
alt_id: MIM:601449
xref: MESH:C563316
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9004518
name: Dysferlinopathy
xref: MESH:C537995
is_a: DOID:11724 ! limb-girdle muscular dystrophy

[Term]
id: DOID:9004519
name: Congenital Stationary Night Blindness 1I
synonym: "congenital stationary night blindness, type 1I" EXACT []
synonym: "CSNB1I" EXACT []
xref: MIM:618555
is_a: DOID:0050534 ! congenital stationary night blindness
created_by: mtutaj
creation_date: 2019-09-03T14:59:10Z

[Term]
id: DOID:9004521
name: Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures
def: "A disease characterized by impaired intellectual development or developmental delay of varying severity with impaired motor skills and language delay. Macrocephaly, obesity, and overgrowth are frequently seen. Approximately half of patients experience seizures, and neurobehavioral disorders including autism are usually present." [MIM:618725]
synonym: "IDDBCS" EXACT []
synonym: "NEDMS" EXACT []
synonym: "NEURODEVELOPMENTAL DISORDER WITH MACROCEPHALY AND WITH OR WITHOUT SEIZURES" EXACT []
synonym: "PHF21A-RELATED CONDITION" EXACT []
xref: EFO:0010660
xref: MIM:618725
is_a: DOID:1826 ! epilepsy
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2020-02-14T13:04:05Z

[Term]
id: DOID:9004522
name: Pallister W Syndrome
alt_id: MIM:311450
synonym: "Median cleft upper lip, mental retardation and pugilistic facies" EXACT []
synonym: "W syndrome" EXACT []
xref: MESH:C538106
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004523
name: Perceptual Disorders
def: "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body." [MESH:D010468]
synonym: "Hemisensory Neglect" EXACT []
synonym: "Hemisensory Neglects" EXACT []
synonym: "Hemispatial Neglect" EXACT []
synonym: "Hemispatial Neglects" EXACT []
synonym: "Perceptual Disorder" EXACT []
synonym: "Sensory Neglect" EXACT []
synonym: "Sensory Neglects" EXACT []
synonym: "Somatosensory Discrimination Disorder" EXACT []
synonym: "Somatosensory Discrimination Disorders" EXACT []
xref: MESH:D010468
is_a: DOID:9002320 ! Neurobehavioral Manifestations

[Term]
id: DOID:9004524
name: Granulomatous Mastitis
def: "A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with BREAST FEEDING and the use of ORAL CONTRACEPTIVES." [MESH:D058890]
xref: MESH:D058890
is_a: DOID:10690 ! mastitis

[Term]
id: DOID:9004525
name: Vertebral Artery Dissection
def: "Splitting of the vessel wall in the VERTEBRAL ARTERY. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the vertebral artery, aneurysm formation, or THROMBOEMBOLISM. Vertebral artery dissection is often associated with TRAUMA and injuries to the head-neck region but can occur spontaneously." [MESH:D020217]
synonym: "Dissecting Vertebral Artery Aneurysm" EXACT []
synonym: "Spontaneous Vertebral Artery Dissection" EXACT []
synonym: "Traumatic Vertebral Artery Dissection" EXACT []
synonym: "Vertebral Artery Dissections" EXACT []
xref: MESH:D020217
xref: RDO:0007356
is_a: DOID:9001829 ! Cerebrovascular Trauma
is_a: DOID:9006045 ! Dissecting Aneurysm

[Term]
id: DOID:9004527
name: YAO SYNDROME
def: "An autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms." [MIM:617321]
synonym: "SUSCEPTIBILITY TO YAO SYNDROME" RELATED []
synonym: "YAOS" EXACT []
xref: MIM:617321
is_a: DOID:225 ! syndrome
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: slaulede
creation_date: 2021-01-21T12:58:15Z

[Term]
id: DOID:9004528
name: Kozlowski Warren Fisher Syndrome
synonym: "Cloverleaf skull generalised bone dysplasia" EXACT []
xref: MESH:C537614
is_a: DOID:0080006 ! bone development disease
is_a: DOID:13481 ! thanatophoric dysplasia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9004529
name: Presbycusis 2
alt_id: MIM:612976
synonym: "Age-Related Hearing Impairment 2" EXACT []
synonym: "ARHI2" EXACT []
xref: MESH:C567834
is_a: DOID:9000307 ! Presbycusis

[Term]
id: DOID:9004530
name: Hypertriglyceridemic Waist
def: "A screening phenotype consisting of both elevated WAIST CIRCUMFERENCE and elevated fasting TRIGLYCERIDES level." [MESH:D064250]
synonym: "Enlarged Waist Elevated Triglycerides" EXACT []
xref: MESH:D064250
xref: RDO:0015836
is_a: DOID:9000071 ! Signs and Symptoms
is_a: DOID:9006599 ! Hypertriglyceridemia

[Term]
id: DOID:9004531
name: Cardiovirus Infections
def: "Infections caused by viruses of the genus CARDIOVIRUS, family PICORNAVIRIDAE." [MESH:D018188]
synonym: "Cardiovirus infection" EXACT []
synonym: "Cardiovirus infectious disease" EXACT []
xref: EFO:0007194
xref: MESH:D018188
xref: MONDO:0005691
is_a: DOID:9003470 ! Picornaviridae Infections

[Term]
id: DOID:9004532
name: Restless Legs Syndrome 2
alt_id: MIM:608831
synonym: "Autosomal dominant restless legs syndrome" EXACT []
synonym: "restless legs syndrome, susceptibility to, 2" RELATED []
synonym: "RLS2" EXACT []
xref: MESH:C538360
is_a: DOID:0050425 ! restless legs syndrome

[Term]
id: DOID:9004533
name: Orthostatic Hypotensive Disorder, Streeten Type
alt_id: MIM:143850
synonym: "Hyperbradykininism" EXACT []
synonym: "OHDS" EXACT []
synonym: "Orthostatic Hypotensive Disorder" EXACT []
xref: MESH:C564174
xref: RDO:0013221
is_a: DOID:9005950 ! Orthostatic Hypotension

[Term]
id: DOID:9004534
name: Laryngeal Edema
def: "Abnormal accumulation of fluid in tissues of any part of the LARYNX, commonly associated with laryngeal injuries and allergic reactions." [MESH:D007819]
synonym: "Laryngeal Edemas" EXACT []
xref: MESH:D007819
is_a: DOID:786 ! laryngeal disease

[Term]
id: DOID:9004535
name: Cytokine Release Syndrome
def: "A systemic inflammatory response triggered by a variety of factors used in IMMUNOTHERAPY. It is characterized by marked elevations of various inflammatory CYTOKINES and by the following associated conditions: DYSPNEA; FEVER; HEADACHE; HYPOTENSION; NAUSEA; RASH; TACHYCARDIA and/or HYPOXIA. (MESH)" []
xref: MESH:D000080424
is_a: DOID:9000169 ! Systemic Inflammatory Response Syndrome
created_by: mtutaj
creation_date: 2020-01-30T17:11:44Z

[Term]
id: DOID:9004536
name: Rett Syndrome, Zappella Variant
xref: MESH:C567442
is_a: DOID:1206 ! Rett syndrome

[Term]
id: DOID:9004537
name: Deafness, Nephritis, Anorectal Malformation
synonym: "Dominant ano-rectal malformation, nephritis and nerve-deafness" EXACT []
xref: MESH:C535996
is_a: DOID:0060140 ! cortical deafness
is_a: DOID:2527 ! nephrosis
is_a: DOID:9001471 ! Anorectal Malformations
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004538
name: Hearing Loss
def: "A general term for the complete or partial loss of the ability to hear from one or both ears." [MESH:D034381]
synonym: "Hearing Impairment" EXACT []
synonym: "Hereditary Hearing Loss And Deafness" NARROW []
synonym: "Hypoacuses" EXACT []
synonym: "Hypoacusis" EXACT []
synonym: "NONSYNDROMIC HEARING LOSS, DOMINANT" NARROW []
synonym: "NONSYNDROMIC HEARING LOSS, MIXED" NARROW []
synonym: "NONSYNDROMIC HEARING LOSS, RECESSIVE" NARROW []
synonym: "NONSYNDROMIC HEARING LOSS, X-LINKED" NARROW []
xref: EFO:0004238
xref: MESH:D034381
is_a: DOID:9002500 ! Hearing Disorders

[Term]
id: DOID:9004540
name: Islet Cell Adenomatosis
alt_id: MIM:147630
synonym: "INSDM" EXACT []
synonym: "insulinomatosis and diabetes mellitus" EXACT []
xref: MESH:C563258
is_a: DOID:9000283 ! Islet Cell Adenoma

[Term]
id: DOID:9004541
name: Heart Rupture
def: "Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION)." [MESH:D006341]
synonym: "Cardiac Free Wall Rupture" EXACT []
synonym: "Cardiac Rupture" EXACT []
synonym: "Cardiac Ruptures" EXACT []
synonym: "Free Wall Rupture, Heart" EXACT []
synonym: "Heart Ruptures" EXACT []
synonym: "Ventricular Free Wall Rupture" EXACT []
xref: MESH:D006341
is_a: DOID:114 ! heart disease

[Term]
id: DOID:9004542
name: Antithrombin Deficiency Type 2
xref: MESH:C537779
xref: RDO:0003680
is_a: DOID:2452 ! thrombophilia

[Term]
id: DOID:9004543
name: NEUROOCULAR SYNDROME 1
def: "This is a disease that encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development and eye abnormalities that show marked variability." [MIM:619539]
synonym: "NEUROOCULAR SYNDROME" BROAD []
synonym: "NOC" BROAD []
xref: MIM:619539
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008296 ! Eye Abnormalities
created_by: slaulede
creation_date: 2021-10-22T10:40:30Z

[Term]
id: DOID:9004544
name: Chitayat Meunier Hodgkinson Syndrome
synonym: "Robin sequence with facial and digital anomalies" EXACT []
xref: MESH:C535926
xref: RDO:0001297
is_a: DOID:225 ! syndrome
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9004545
name: Birth Injuries
def: "Mechanical or anoxic trauma incurred by the infant during labor or delivery." [MESH:D001720]
synonym: "Birth Injury" EXACT []
xref: MESH:D001720
is_a: DOID:9001600 ! Wounds and Injuries
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9004546
name: Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies
alt_id: MIM:607597
xref: MESH:C564370
is_a: DOID:10629 ! microphthalmia
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004547
name: Thyroid Neoplasms
alt_id: RDO:0002634
def: "Tumors or cancer of the THYROID GLAND." [MESH:D013964]
synonym: "neoplasm of the thyroid gland" EXACT []
synonym: "neoplasm of thyroid gland" EXACT [SNOMEDCT_2005_07_31:127018007]
synonym: "thyroid gland neoplasm" EXACT [NCI2004_11_17:C3414]
synonym: "thyroid neoplasm" EXACT []
xref: EFO:0003841
xref: MESH:D013964
xref: NCI:C179056
is_a: DOID:50 ! thyroid gland disease
is_a: DOID:9006169 ! Head and Neck Neoplasms
is_a: DOID:9007803 ! Endocrine Gland Neoplasms

[Term]
id: DOID:9004548
name: Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities
alt_id: DOID:9007507
alt_id: MIM:619026
def: "An autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. Brain imaging shows variable white matter abnormalities, including thin corpus callosum and poor myelination" [MIM:619026]
synonym: "CPSQ1" EXACT []
synonym: "NEDSWMA" EXACT []
synonym: "quadriplegic spastic cerebral palsy 1" EXACT []
xref: MESH:C567853
is_a: DOID:10970 ! spastic quadriplegic cerebral palsy
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007428 ! Muscle Spasticity
created_by: slaulede
creation_date: 2020-12-15T13:30:45Z

[Term]
id: DOID:9004549
name: Feigenbaum Bergeron Richardson Syndrome
xref: MESH:C536178
is_a: DOID:1184 ! nephrotic syndrome
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:2349 ! arteriosclerosis
is_a: DOID:9005154 ! Myoclonic Epilepsies
is_a: DOID:9006380 ! Bilateral Hearing Loss
is_a: DOID:9007722 ! Myoclonus
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9004550
name: Iatrogenic Disease
def: "Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment." [MESH:D007049]
synonym: "Hospital Acquired Condition" EXACT []
synonym: "Hospital-Acquired Conditions" EXACT []
synonym: "Iatrogenic Diseases" EXACT []
xref: MESH:D007049
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9004551
name: Charcot-Marie-Tooth Disease Type 2A2
def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.2. (DO)" []
synonym: "Charcot-Marie-Tooth Disease, Axonal, Type 2A2" EXACT []
synonym: "CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2" EXACT []
synonym: "Charcot-Marie-Tooth disease type 2A2" EXACT []
synonym: "Charcot-Marie-Tooth neuronal type 2A2" EXACT []
synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A2" EXACT []
synonym: "Charcot-Marie-Tooth neuropathy type 2A2" EXACT []
synonym: "CMT2A2" EXACT []
synonym: "hereditary motor and sensory neuropathy 2A2" EXACT []
synonym: "hereditary motor and sensory neuropathy IIA2" EXACT []
synonym: "HMSN2A2" EXACT []
synonym: "HMSN IIA2" EXACT []
synonym: "HMSNIIA2" EXACT []
xref: MESH:C563757
xref: ORDO:99947
is_a: DOID:9008563 ! Charcot-Marie-Tooth Disease, Type 2A
created_by: mtutaj
creation_date: 2020-01-15T10:14:20Z

[Term]
id: DOID:9004552
name: Genu Varum
def: "An outward slant of the thigh in which the knees are wide apart and the ankles close together. Genu varum can develop due to skeletal and joint dysplasia (e.g., OSTEOARTHRITIS; Blount's disease); and malnutrition (e.g., RICKETS; FLUORIDE POISONING)." [MESH:D056305]
synonym: "Bow Leg" EXACT []
synonym: "Bow Legs" EXACT []
synonym: "Genu Varus" EXACT []
xref: MESH:D056305
xref: RDO:0002856
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:9004553
name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE
def: "This disease is characterized by the onset of progressive gait and truncal ataxia in early childhood. Affected individuals have muscle weakness and atrophy and sensorimotor axonal neuropathy." [MIM:620636]
synonym: "CONDCAC" EXACT []
xref: MIM:620636
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:1289 ! neurodegenerative disease
created_by: slaulederkind
creation_date: 2024-03-04T12:43:19Z

[Term]
id: DOID:9004554
name: Developmental and Epileptic Encephalopathy 111
def: "An autosomal recessive severe neurologic disorder characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech. Caused by homozygous mutation in the DEPDC5 gene on chromosome 22q12." [MIM:620504]
synonym: "DEE111" EXACT []
synonym: "DEPDC5-RELATED CONDITION" BROAD []
xref: MIM:620504
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: mtutaj
creation_date: 2023-09-22T10:19:57Z

[Term]
id: DOID:9004555
name: Retinal Degeneration and Epilepsy
alt_id: MIM:267740
xref: MESH:C564847
is_a: DOID:1826 ! epilepsy
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:9004556
name: Melena
def: "The black, tarry, foul-smelling FECES that contain degraded blood." [MESH:D008551]
synonym: "Melenas" EXACT []
xref: MESH:D008551
is_a: DOID:9008975 ! Gastrointestinal Hemorrhage

[Term]
id: DOID:9004557
name: Franceschini Vardeu Guala syndrome
xref: GARD:2371
xref: MESH:C537272
xref: MONDO:0023182
is_a: DOID:5572 ! Beckwith-Wiedemann syndrome

[Term]
id: DOID:9004559
name: Jaw Fractures
def: "Fractures of the upper or lower jaw." [MESH:D007572]
synonym: "Jaw Fracture" EXACT []
xref: EFO:0009612
xref: MESH:D007572
is_a: DOID:9002209 ! Skull Fractures
is_a: DOID:9004460 ! Maxillofacial Injuries

[Term]
id: DOID:9004560
name: Chromosome 4, Trisomy 4q25 qter
synonym: "Duplication 4q25 qter" EXACT []
synonym: "Trisomy 4q25 qter" EXACT []
xref: MESH:C537646
xref: RDO:0003522
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9004561
name: Dental Fissures
def: "Deep grooves or clefts in the surface of teeth equivalent to class 1 cavities in Black's classification of dental caries." [MESH:D003750]
synonym: "Dental Fissure" EXACT []
xref: MESH:D003750
xref: RDO:0005328
is_a: DOID:216 ! dental caries

[Term]
id: DOID:9004562
name: Smoke Inhalation Injury
def: "Pulmonary injury following the breathing in of toxic smoke from burning materials such as plastics, synthetics, building materials, etc. This injury is the most frequent cause of death in burn patients." [MESH:D015208]
synonym: "Smoke Inhalation Injuries" EXACT []
xref: MESH:D015208
xref: RDO:0006851
is_a: DOID:9001482 ! Inhalation Burns

[Term]
id: DOID:9004563
name: Maxillofacial Abnormalities
def: "Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones." [MESH:D019767]
synonym: "Maxillofacial Abnormality" EXACT []
xref: MESH:D019767
xref: RDO:0000753
is_a: DOID:9006733 ! Stomatognathic System Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004564
name: Cantu Sanchez-Corona Fragoso Syndrome
synonym: "Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation" EXACT []
xref: MESH:C535571
xref: RDO:0000769
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9001239 ! Delayed Puberty
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9004566
name: Lambert Syndrome
alt_id: MIM:245550
synonym: "Branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia" EXACT []
xref: MESH:C538396
is_a: DOID:0060320 ! inguinal hernia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11836 ! clubfoot
is_a: DOID:13608 ! biliary atresia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9004567
name: Short Stature and Microcephaly with Genital Anomalies
synonym: "SSMGA" EXACT []
xref: EFO:0010665
xref: MIM:618702
is_a: DOID:10907 ! microcephaly
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9007661 ! Dwarfism
created_by: mtutaj
creation_date: 2019-12-30T08:11:07Z

[Term]
id: DOID:9004568
name: Richieri Costa Da Silva Syndrome
synonym: "Tibial hemimelia-split hand-foot syndrome" EXACT []
xref: MESH:C535675
xref: RDO:0000929
is_a: DOID:225 ! syndrome
is_a: DOID:9000545 ! Ectromelia

[Term]
id: DOID:9004569
name: Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1
synonym: "Isolated Left Ventricular Noncompaction, Autosomal Dominant" EXACT []
xref: MESH:C565821
is_a: DOID:0060480 ! left ventricular noncompaction

[Term]
id: DOID:9004570
name: Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation
alt_id: MIM:608227
xref: MESH:C564271
is_a: DOID:0080074 ! neural tube defect
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:83 ! cataract
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004571
name: Patella Hypoplasia Mental Retardation
synonym: "Mental retardation with patellar hypoplasia and luxation" EXACT []
xref: MESH:C536308
xref: RDO:0001835
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9004266 ! Patellar Dislocation

[Term]
id: DOID:9004572
name: Dentinogenesis Imperfecta, Shields Type 3
synonym: "Brandywine type dentinogenesis imperfecta" EXACT []
synonym: "Dentinogenesis Imperfecta, Shields Type III" EXACT []
synonym: "DGI-III" EXACT []
xref: GARD:10144
xref: MESH:C538216
xref: MIM:125500
xref: MONDO:0007442
xref: ORDO:166265
is_a: DOID:4154 ! dentinogenesis imperfecta

[Term]
id: DOID:9004574
name: Acalvaria
xref: MESH:C535570
is_a: DOID:0080074 ! neural tube defect

[Term]
id: DOID:9004575
name: Neoplasm Invasiveness
def: "Ability of neoplasms to infiltrate and actively destroy surrounding tissue." [MESH:D009361]
synonym: "CANCER PROGRESSION" EXACT []
synonym: "CANCER PROGRESSION AND TUMOR CELL MOTILITY" EXACT []
synonym: "Neoplasm Invasion" EXACT []
synonym: "TUMOR CELL MOTILITY" EXACT []
xref: MESH:D009361
is_a: DOID:9008192 ! Neoplastic Processes

[Term]
id: DOID:9004576
name: Sleep Initiation and Maintenance Disorders
def: "Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition." [MESH:D007319]
synonym: "Chronic Insomnia" EXACT []
synonym: "DIMS (Disorders of Initiating and Maintaining Sleep)" EXACT []
synonym: "Disorders of Initiating and Maintaining Sleep" EXACT []
synonym: "Early Awakening" EXACT []
synonym: "Insomnia" EXACT []
synonym: "Insomnia Disorder" EXACT []
synonym: "Insomnia Disorders" EXACT []
synonym: "Insomnias" EXACT []
synonym: "Nonorganic Insomnia" EXACT []
synonym: "Primary Insomnia" EXACT []
synonym: "Psychophysiological Insomnia" EXACT []
synonym: "Rebound Insomnia" EXACT []
synonym: "Secondary Insomnia" EXACT []
synonym: "Sleep Initiation Dysfunction" EXACT []
synonym: "Sleep Initiation Dysfunctions" EXACT []
synonym: "Sleeplessness" EXACT []
synonym: "Transient Insomnia" EXACT []
xref: EFO:0004698
xref: MESH:D007319
is_a: DOID:9000166 ! Intrinsic Sleep Disorders

[Term]
id: DOID:9004577
name: Stuve-Wiedemann Syndrome
xref: MIM:PS601559
is_a: DOID:206 ! hereditary multiple exostoses
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
created_by: mtutaj
creation_date: 2022-08-15T10:22:38Z

[Term]
id: DOID:9004578
name: Bowen Syndrome
alt_id: MIM:211200
synonym: "Bowen syndrome of multiple malformations" EXACT []
xref: MESH:C538164
is_a: DOID:1686 ! glaucoma
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004579
name: Spastic Pseudosclerosis
alt_id: MIM:270900
synonym: "Corticopallidodegeneration" EXACT []
synonym: "Disseminated Encephalomyelopathy" EXACT []
xref: MESH:C563024
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9004580
name: Monteggia's Fracture
def: "Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." [MESH:D009011]
synonym: "Monteggia Fracture" EXACT []
synonym: "Monteggias Fracture" EXACT []
xref: EFO:1001811
xref: MESH:D009011
is_a: DOID:9000012 ! Fracture Dislocation
is_a: DOID:9001872 ! Ulna Fractures

[Term]
id: DOID:9004581
name: Pediatric Obesity
def: "BODY MASS INDEX in children (ages 2-12) and in adolescents (ages 13-18) that is grossly above the recommended cut-off for a specific age and sex. For infants less than 2 years of age, obesity is determined based on standard weight-for-length percentile measures." [MESH:D063766]
synonym: "Adolescent Obesity" EXACT []
synonym: "Childhood Obesity" EXACT []
synonym: "Childhood Onset Obesity" EXACT []
synonym: "Child Obesity" EXACT []
synonym: "Infantile Obesity" EXACT []
synonym: "Infant Obesity" EXACT []
synonym: "Obesity in Adolescence" EXACT []
synonym: "Obesity in Childhood" EXACT []
xref: MESH:D063766
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9004582
name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY
def: "This is a disease characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect." [MIM:619657]
synonym: "CHTD8" EXACT []
synonym: "multiple types of congenital heart defects-8 with or without heterotaxy" EXACT []
synonym: "SMAD2-RELATED CONDITION" BROAD []
xref: MIM:619657
is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types
created_by: slaulede
creation_date: 2022-02-03T17:58:54Z

[Term]
id: DOID:9004583
name: Ataxia Telangiectasia Like Disorder
synonym: "ATLD" EXACT []
xref: MESH:C565779
xref: MIM:PS604391
is_a: DOID:12704 ! ataxia telangiectasia

[Term]
id: DOID:9004584
name: Myopia 28
def: "Early-onset high myopia in the first decade of life. Caused by homozygous or compound heterozygous mutation in the LOXL3 gene on chromosome 2p13." [MIM:619781]
synonym: "myopia 28, autosomal recessive" EXACT []
synonym: "MYP28" EXACT []
xref: MIM:619781
is_a: DOID:11830 ! myopia
created_by: mtutaj
creation_date: 2022-03-08T11:21:48Z

[Term]
id: DOID:9004585
name: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES
def: "This is a disease characterized by developmental delay apparent from infancy or early childhood. Affected individuals have mildly delayed fine and motor skills with walking by 3 years of age, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and ADHD." [MIM:619243]
synonym: "GDSBA" EXACT []
synonym: "TNRC6B-RELATED CONDITION" EXACT []
xref: MIM:619243
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:92 ! speech disorder
created_by: slaulede
creation_date: 2021-05-13T12:29:46Z

[Term]
id: DOID:9004587
name: Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2
synonym: "follicular ichthyosis, atrichia, and photophobia syndrome 2" EXACT []
synonym: "follicular ichthyosis with atrichia and photophobia syndrome 2" EXACT []
synonym: "IFAP2" EXACT []
synonym: "IFAP syndrome 2" EXACT []
xref: MIM:619016
is_a: DOID:9002152 ! IFAP Syndrome
created_by: mtutaj
creation_date: 2020-09-14T13:12:34Z

[Term]
id: DOID:9004589
name: Adenophorea Infections
def: "Infections with nematodes of the subclass ADENOPHOREA." [MESH:D017188]
synonym: "Adenophorea Infection" EXACT []
synonym: "Aphasmidia Infection" EXACT []
synonym: "Aphasmidia Infections" EXACT []
xref: MESH:D017188
xref: RDO:0007035
is_a: DOID:9002992 ! Nematode Infections

[Term]
id: DOID:9004590
name: Acute Liver Failure
alt_id: RDO:0000601
def: "A form of rapid-onset LIVER FAILURE, also known as fulminant hepatic failure, caused by severe liver injury or massive loss of HEPATOCYTES. It is characterized by sudden development of liver dysfunction and JAUNDICE. Acute liver failure may progress to exhibit cerebral dysfunction even HEPATIC COMA depending on the etiology that includes hepatic ISCHEMIA, drug toxicity, malignant infiltration, and viral hepatitis such as post-transfusion HEPATITIS B and HEPATITIS C." [MESH:D017114]
synonym: "Acute Hepatic Failure" EXACT []
synonym: "acute liver injury" EXACT []
synonym: "Fulminant Hepatic Failure" EXACT []
synonym: "Fulminant Hepatic Failures" EXACT []
synonym: "Fulminant Liver Failure" EXACT []
synonym: "Fulminant Liver Failures" EXACT []
synonym: "Fulminating Hepatic Failure" EXACT []
synonym: "Fulminating Hepatic Failures" EXACT []
synonym: "Fulminating Liver Failure" EXACT []
synonym: "Fulminating Liver Failures" EXACT []
synonym: "Recurrent Acute Liver Failure" NARROW []
xref: MESH:D017114
is_a: DOID:9007874 ! Liver Failure

[Term]
id: DOID:9004591
name: Partington Anderson Syndrome
alt_id: MIM:260555
xref: MESH:C536299
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9004592
name: Oocyte/Zygote/Embryo Maturation Arrest 13
def: "A disease characterized by female infertility due to recurrent preimplantation embryonic arrest. Caused by homozygous or compound heterozygous mutation in the ZFP36L2 gene on chromosome 2p21." [MIM:620154]
synonym: "Oocyte Maturation Defect 13" EXACT []
synonym: "OOMD13" EXACT []
synonym: "OZEMA13" EXACT []
xref: MIM:620154
is_a: DOID:9007456 ! Female Infertility
created_by: mtutaj
creation_date: 2022-12-12T08:49:41Z

[Term]
id: DOID:9004593
name: Drug-Induced Immune Thrombocytopenia
def: "The development of thrombocytopenia, as a result of the medicinal administration of a drug." []
synonym: "DIIT" EXACT []
synonym: "DITP" EXACT []
synonym: "Drug-induced ITP" EXACT []
synonym: "Drug-induced Thrombocytopenia" EXACT []
synonym: "Drug-induced thrombocytopenic purpura" EXACT []
xref: RDO:9000342
is_a: DOID:11126 ! acquired thrombocytopenia
is_a: DOID:9005876 ! Thrombocytopenic Purpura
created_by: rgd
creation_date: 2016-06-10T00:00:00Z

[Term]
id: DOID:9004594
name: Jaw Neoplasms
def: "Cancers or tumors of the MAXILLA or MANDIBLE unspecified. For neoplasms of the maxilla, MAXILLARY NEOPLASMS is available and of the mandible, MANDIBULAR NEOPLASMS is available." []
synonym: "jaw neoplasm" EXACT []
synonym: "neoplasm of jaw" EXACT [SNOMEDCT_2005_07_31:126634001]
xref: MESH:D007573
is_a: DOID:9001331 ! Skull Neoplasms
is_a: DOID:9003876 ! Jaw Diseases
created_by: rgd
creation_date: 2015-06-10T00:00:00Z

[Term]
id: DOID:9004595
name: Diastema
def: "An abnormal opening or fissure between two adjacent teeth." [MESH:D003970]
synonym: "Diastemas" EXACT []
synonym: "Diastemata" EXACT []
xref: MESH:D003970
xref: RDO:0001770
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9004596
name: Infected Aneurysm
def: "Aneurysm due to growth of microorganisms in the arterial wall, or infection arising within preexisting arteriosclerotic aneurysms." [MESH:D000785]
synonym: "Bacterial Aneurysm" EXACT []
synonym: "Bacterial Aneurysms" EXACT []
synonym: "Fungal Aneurysm" EXACT []
synonym: "Fungal Aneurysms" EXACT []
synonym: "Infected Aneurysms" EXACT []
synonym: "Mycotic Aneurysm" EXACT []
synonym: "Mycotic Aneurysms" EXACT []
xref: MESH:D000785
is_a: DOID:9001665 ! Aneurysm

[Term]
id: DOID:9004599
name: Microcephaly with Cervical Spine Fusion Anomalies
alt_id: MIM:251250
synonym: "Microcephaly Cervical Spine Fusion Anomalies" EXACT []
synonym: "Microcephaly, mild mental retardation, short stature, and skeletal anomalies" EXACT []
xref: MESH:C537325
is_a: DOID:0060564 ! spinal disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9004600
name: Cochlear Deafness with Myopia and Intellectual Impairment
alt_id: RDO:0014228
xref: MESH:C565645
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11830 ! myopia
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9004601
name: Serratia Infections
def: "Infections with bacteria of the genus SERRATIA." [MESH:D016868]
synonym: "Serratia Infection" EXACT []
xref: EFO:1001421
xref: MESH:D016868
is_a: DOID:9003491 ! Enterobacteriaceae Infections

[Term]
id: DOID:9004602
name: Exsanguination
def: "Rapid and extreme blood loss leading to HEMORRHAGIC SHOCK." [MESH:D058734]
synonym: "Exsanguinating Hemorrhage" EXACT []
synonym: "Exsanguinating Hemorrhages" EXACT []
xref: MESH:D058734
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9004603
name: Atkin Syndrome
alt_id: MIM:300431
alt_id: RDO:0004138
synonym: "Atkin Flaitz Patil Smith syndrome" EXACT []
synonym: "Atkin-Flaitz syndrome" EXACT []
synonym: "X-linked mental retardation, Atkin type" EXACT []
synonym: "X-linked mental retardation, nonspecific" EXACT []
synonym: "X-linked mental retardation, nonspecific, type 1" EXACT []
synonym: "X-linked mental retardation syndrome, Atkin type" EXACT []
xref: MESH:C538195
is_a: DOID:225 ! syndrome
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9004604
name: Autoinflammation with Episodic Fever and Lymphadenopathy
def: "An autosomal dominant immunologic disorder characterized by onset of recurrent episodes of unexplained fever beginning in early infancy. The episodes occur in a cyclic pattern with a frequency of every week or every few weeks and a duration of several days. Patients have accompanying lymphadenopathy and patient serum shows increased levels of inflammatory cytokines and chemokines, consistent with abnormal activation of the innate inflammatory system." [MIM:618852]
synonym: "AIEFL" EXACT []
synonym: "CLEAVAGE-RESISTANT RIPK1-INDUCED AUTOINFLAMMATORY SYNDROME CRIA SYNDROME" EXACT []
synonym: "RIPK1-RELATED CONDITION" BROAD []
xref: EFO:0010737
xref: MIM:618852
is_a: DOID:9000972 ! Fever
is_a: DOID:9004150 ! Lymphadenopathy
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: slaulede
creation_date: 2020-07-06T13:35:27Z

[Term]
id: DOID:9004605
name: Digital Dermatitis
def: "Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (LAMENESS, ANIMAL). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. DICHELOBACTER NODOSUS and TREPONEMA are the most commonly associated causative agents for this mixed bacterial infection disease." [MESH:D058066]
synonym: "Bovine Digital Dermatitides" EXACT []
synonym: "Bovine Digital Dermatitis" EXACT []
synonym: "Bovine Foot Wart" EXACT []
synonym: "Bovine Foot Warts" EXACT []
synonym: "Bovine Hairy Footwart" EXACT []
synonym: "Bovine Hairy Footwarts" EXACT []
synonym: "Digital Dermatitides" EXACT []
synonym: "Digital Papillomatoses" EXACT []
synonym: "Digital Papillomatosis" EXACT []
synonym: "Ovine Digital Dermatitides" EXACT []
synonym: "Ovine Digital Dermatitis" EXACT []
synonym: "Papillomatous Digital Dermatitides" EXACT []
synonym: "Papillomatous Digital Dermatitis" EXACT []
xref: MESH:D058066
is_a: DOID:9003209 ! Bacterial Skin Diseases
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9004606
name: Kuzniecky Andermann Syndrome
synonym: "macrogyria, pseudobulbar palsy and mental retardation" EXACT []
xref: MESH:C537722
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12680 ! pseudobulbar palsy
is_a: DOID:225 ! syndrome
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9004607
name: Diaphragmatic Hernia 2
alt_id: MIM:222400
synonym: "DIH2" EXACT []
synonym: "Hernia, congenital diaphragmatic 2" EXACT []
xref: MESH:C565629
is_a: DOID:3827 ! congenital diaphragmatic hernia

[Term]
id: DOID:9004608
name: Tendon Entrapment
alt_id: RDO:0007597
def: "Narrowing or stenosis of a tendon's retinacular sheath. It occurs most often in the hand or wrist but can also be found in the foot or ankle. The most common types are DE QUERVAIN DISEASE and TRIGGER FINGER DISORDER." [MESH:D053682]
synonym: "Stenosing Tendovaginitides" EXACT []
synonym: "Stenosing Tendovaginitis" EXACT []
synonym: "Stenosing Tenosynovitides" EXACT []
synonym: "Stenosing Tenosynovitis" EXACT []
synonym: "Stenosing Tenovaginitides" EXACT []
synonym: "Stenosing Tenovaginitis" EXACT []
synonym: "Tendon Entrapments" EXACT []
xref: EFO:0010822
xref: MESH:D053682
is_a: DOID:971 ! tendinitis

[Term]
id: DOID:9004609
name: Hereditary Spinal Ataxia
xref: MESH:C531684
is_a: DOID:9277 ! primary cerebellar degeneration

[Term]
id: DOID:9004610
name: Acute Lung Injury
def: "A condition of lung damage that is characterized by bilateral pulmonary infiltrates (PULMONARY EDEMA) rich in NEUTROPHILS, and in the absence of clinical HEART FAILURE. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological)." [MESH:D055371]
synonym: "Acute Lung Injuries" EXACT []
xref: EFO:0004610
xref: MESH:D055371
xref: RDO:0007706
is_a: DOID:9000310 ! Lung Injury

[Term]
id: DOID:9004611
name: Pathologic Processes
def: "The abnormal mechanisms and forms involved in the dysfunctions of tissues and organs." [MESH:D010335]
synonym: "Pathological Processes" EXACT []
xref: MESH:D010335
is_a: DOID:9000298 ! Pathological Conditions, Signs and Symptoms

[Term]
id: DOID:9004612
name: N-Acetylaspartate Deficiency
synonym: "HYPOACETYLASPARTIA" EXACT []
synonym: "NAA DEFICIENCY" EXACT []
synonym: "NACED" EXACT []
xref: MIM:614063
xref: RDO:9000677
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9004613
name: Squamous Odontogenic Tumor
def: "A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." [MESH:D051527]
synonym: "Squamous Odontogenic Tumors" EXACT []
xref: EFO:1001848
xref: MESH:D051527
is_a: DOID:9006134 ! Odontogenic Tumors

[Term]
id: DOID:9004614
name: Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
alt_id: MIM:601375
xref: MESH:C536180
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:9004615
name: Metachromatic Leukodystrophy due to Saposin B Deficiency
alt_id: MIM:249900
synonym: "Metachromatic Leukodystrophy due to Cerebroside Sulfatase Activator Deficiency" EXACT []
synonym: "MLDSAPB" EXACT []
synonym: "Saposin B Deficiency" EXACT []
xref: MESH:C562609
is_a: DOID:10581 ! metachromatic leukodystrophy

[Term]
id: DOID:9004616
name: Left Ventricular Hypertrophy
alt_id: RDO:0007042
def: "Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality." [MESH:D017379]
synonym: "Increased Left Ventricular Wall Thickness" EXACT []
synonym: "Left Ventricular Hypertrophies" EXACT []
xref: EFO:0003896
xref: MESH:D017379
is_a: DOID:9003936 ! Cardiomegaly

[Term]
id: DOID:9004617
name: Taurodontism, Microdontia, and Dens Invaginatus
alt_id: MIM:313490
synonym: "KIF4A-RELATED CONDITION" BROAD []
synonym: "TMDI" EXACT []
xref: MESH:C536947
is_a: DOID:9001018 ! Mouth Abnormalities
is_a: DOID:9003098 ! Taurodontism
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9004618
name: Gallbladder Disease 1
alt_id: DOID:1949
synonym: "CHOLELITHIASIS, LOW PHOSPHOLIPID-ASSOCIATED" EXACT []
synonym: "GBD1" EXACT []
synonym: "LPAC" EXACT []
xref: MIM:600803
is_a: DOID:0060262 ! gallbladder disease
is_a: DOID:9006113 ! Gallstones

[Term]
id: DOID:9004619
name: Pacman Dysplasia
alt_id: MIM:167220
synonym: "Epiphyseal stippling with osteoclastic hyperplasia" EXACT []
synonym: "Pacman syndrome" EXACT []
xref: MESH:C538095
is_a: DOID:2581 ! chondrodysplasia punctata

[Term]
id: DOID:9004620
name: Zenker Diverticulum
def: "A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus." [MESH:D016672]
synonym: "Esophago Pharyngeal Diverticula" EXACT []
synonym: "Esophago Pharyngeal Diverticulum" EXACT []
synonym: "Esophagopharyngeal Diverticulum" EXACT []
synonym: "Esophagopharyngeal Diverticulums" EXACT []
synonym: "Pharyngeal Diverticula" EXACT []
synonym: "Pharyngeal Diverticulum" EXACT []
synonym: "Pharyngo Esophageal Diverticula" EXACT []
synonym: "Pharyngoesophageal Diverticula" EXACT []
synonym: "Pharyngo Esophageal Diverticulum" EXACT []
synonym: "Pharyngoesophageal Diverticulum" EXACT []
synonym: "Pharyngoesophageal Pulsion Diverticula" EXACT []
synonym: "Pharyngoesophageal Pulsion Diverticulum" EXACT []
synonym: "Zenker's Diverticula" EXACT []
synonym: "Zenker's Diverticulum" EXACT []
synonym: "Zenker Diverticula" EXACT []
synonym: "Zenkers Diverticula" EXACT []
synonym: "Zenkers Diverticulum" EXACT []
xref: EFO:1001867
xref: MESH:D016672
is_a: DOID:9004686 ! Esophageal Diverticulum

[Term]
id: DOID:9004622
name: Symmastia
synonym: "Medial confluence of the breasts" EXACT []
xref: MESH:C538147
is_a: DOID:3463 ! breast disease

[Term]
id: DOID:9004623
name: Tooth Abrasion
def: "The pathologic wearing away of the tooth substance by brushing, bruxism, clenching, and other mechanical causes. It is differentiated from TOOTH ATTRITION in that this type of wearing away is the result of tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces. It differs also from TOOTH EROSION, the progressive loss of the hard substance of a tooth by chemical processes not involving bacterial action. (From Jablonski, Dictionary of Dentistry, 1992, p2)" [MESH:D014072]
synonym: "Dental Abrasion" EXACT []
xref: MESH:D014072
is_a: DOID:9004104 ! Tooth Wear

[Term]
id: DOID:9004624
name: Shoulder Fractures
def: "Fractures of the proximal humerus, including the head, anatomic and surgical necks, and tuberosities." [MESH:D012784]
synonym: "Greater Tuberosity Fracture" EXACT []
synonym: "Greater Tuberosity Fractures" EXACT []
synonym: "Proximal Humeral Fracture" EXACT []
synonym: "Proximal Humeral Fractures" EXACT []
synonym: "Shoulder Fracture" EXACT []
xref: EFO:0009621
xref: MESH:D012784
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9004155 ! Shoulder Injuries

[Term]
id: DOID:9004625
name: Malacoplakia
def: "The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract." [MESH:D008287]
synonym: "Malacoplakias" EXACT []
synonym: "Malakoplakia" EXACT []
synonym: "Malakoplakias" EXACT []
xref: EFO:1001807
xref: MESH:D008287
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9004626
name: Ocular Paraneoplastic Syndromes
alt_id: RDO:0010022
def: "Ocular manifestations secondary to various NEOPLASMS in which antibodies to antigens of the primary tumor cross-react with ocular antigens. This autoimmune response often leads to visual loss and other ocular dysfunctions." [MESH:D059545]
synonym: "Bilateral Diffuse Uveal Melanocytic Proliferation, Paraneoplastic" EXACT []
synonym: "Cancer-Associated Retinopathies" EXACT []
synonym: "Cancer Associated Retinopathy" EXACT []
synonym: "Melanoma-Associated Retinopathies" EXACT []
synonym: "Melanoma Associated Retinopathy" EXACT []
synonym: "Ocular Paraneoplastic Disease" EXACT []
synonym: "Ocular Paraneoplastic Diseases" EXACT []
synonym: "Ocular Paraneoplastic Syndrome" EXACT []
synonym: "Paraneoplastic Melanocytic Proliferation" EXACT []
synonym: "Paraneoplastic Melanocytic Proliferations" EXACT []
xref: MESH:D059545
is_a: DOID:9004059 ! Eye Neoplasms
is_a: DOID:9007199 ! Paraneoplastic Syndromes

[Term]
id: DOID:9004627
name: Limbal Stem Cell Deficiency
def: "Loss or disturbance of limbal STEM CELL function in the CORNEAL LIMBUS resulting in inability to self-renew CORNEAL EPITHELIUM and conjunctivalized corneal surface." []
xref: MESH:D000092423
is_a: DOID:10124 ! corneal disease
created_by: mtutaj
creation_date: 2022-12-12T14:47:49Z

[Term]
id: DOID:9004628
name: Ohdo Syndrome, X-Linked
synonym: "blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type" EXACT []
synonym: "OHDOX" EXACT []
xref: MIM:300895
is_a: DOID:0060289 ! Ohdo syndrome

[Term]
id: DOID:9004629
name: Gingival Fibromatosis 4
alt_id: MIM:611010
synonym: "Fibromatosis, Gingival, Hereditary, 4" EXACT []
synonym: "GGF4" EXACT []
synonym: "GINGF4" EXACT []
synonym: "HGF4" EXACT []
xref: MESH:C567028
is_a: DOID:0060466 ! gingival fibromatosis

[Term]
id: DOID:9004630
name: Cataract, Zonular Central Nuclear
xref: MESH:C565135
is_a: DOID:83 ! cataract

[Term]
id: DOID:9004631
name: Cataract, Progressive Polymorphic Cortical
xref: MESH:C565130
is_a: DOID:83 ! cataract

[Term]
id: DOID:9004632
name: Hereditary Hemorrhagic Telangiectasia, Type 3
alt_id: MIM:601101
synonym: "HHT3" EXACT []
synonym: "Osler-Rendu-Weber Syndrome 3" EXACT []
xref: MESH:C537140
is_a: DOID:1270 ! hereditary hemorrhagic telangiectasia

[Term]
id: DOID:9004633
name: Autosomal Recessive Osteopetrosis 9
def: "A disease characterized by increased bone density and bone fragility, as well as renal failure. Caused by compound heterozygous mutation in the SLC4A2 gene on chromosome 7q36." [MIM:620366]
synonym: "OPTB9" EXACT []
synonym: "osteopetrosis, Ikegawa type" EXACT []
xref: MIM:620366
is_a: DOID:13533 ! osteopetrosis
created_by: mtutaj
creation_date: 2023-05-10T09:45:58Z

[Term]
id: DOID:9004634
name: Cardiac Output, Low
def: "A state of subnormal or depressed cardiac output at rest or during stress. It is a characteristic of CARDIOVASCULAR DISEASES, including congenital, valvular, rheumatic, hypertensive, coronary, and cardiomyopathic. The serious form of low cardiac output is characterized by marked reduction in STROKE VOLUME, and systemic vasoconstriction resulting in cold, pale, and sometimes cyanotic extremities." [MESH:D002303]
synonym: "Low Cardiac Output Syndrome" EXACT []
xref: MESH:D002303
is_a: DOID:114 ! heart disease
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9004635
name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY
def: "A disease characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities." [MIM:619157]
synonym: "NBEA-RELATED COMPLEX NEURODEVELOPMENTAL DISORDER" EXACT []
synonym: "NBEA-RELATED CONDITION" EXACT []
synonym: "NBEA-RELATED DEVELOPMENTAL DELAY AND GENERALIZED EPILEPSY" NARROW []
synonym: "NEDEGE" EXACT []
xref: MIM:619157
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2021-02-16T09:40:03Z

[Term]
id: DOID:9004636
name: Specific Language Impairment 5
synonym: "SLI5" EXACT []
xref: MIM:615432
is_a: DOID:0060244 ! specific language impairment

[Term]
id: DOID:9004637
name: Autosomal Recessive Intellectual Developmental Disorder 79
def: "Autosomal recessive intellectual developmental disorder characterized by global developmental delay apparent from infancy, caused by compound heterozygous mutation in the TPR gene on chromosome 1q25. Affected individuals have mildly delayed walking with an ataxic gait and severely impaired intellectual development with poor or absent speech." [MIM:620393]
synonym: "MRT79" EXACT []
xref: MIM:620393
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: mtutaj
creation_date: 2023-05-30T16:02:41Z

[Term]
id: DOID:9004638
name: Classical Swine Fever
def: "An acute, highly contagious disease affecting swine of all ages and caused by the CLASSICAL SWINE FEVER VIRUS. It has a sudden onset with high morbidity and mortality." [MESH:D006691]
synonym: "Hog Cholera" EXACT []
synonym: "Swine Fever" EXACT []
xref: MESH:D006691
xref: RDO:0005813
is_a: DOID:9008435 ! Swine Diseases
is_a: DOID:9008833 ! Pestivirus Infections

[Term]
id: DOID:9004640
name: Kennerknecht Sorgo Oberhoffer Syndrome
alt_id: MIM:202660
synonym: "agonadism, dextrocardia, diaphragmatic hernia" EXACT []
synonym: "agonadism with multiple internal malformations" EXACT []
synonym: "PAGOD syndrome" EXACT []
synonym: "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome" EXACT []
synonym: "pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia" EXACT []
xref: MESH:C537018
is_a: DOID:14447 ! gonadal dysgenesis
is_a: DOID:225 ! syndrome
is_a: DOID:3827 ! congenital diaphragmatic hernia
is_a: DOID:9565 ! dextrocardia

[Term]
id: DOID:9004641
name: Oculodentodigital Dysplasia, Autosomal Recessive
alt_id: MESH:C537733
alt_id: MIM:257850
synonym: "oculodentodigital dysplasia, autosomal recessive" EXACT []
synonym: "oculodentoosseous dysplasia, autosomal recessive" EXACT []
synonym: "oculodentoosseous dysplasia, recessive" EXACT []
synonym: "ODDD, autosomal recessive" EXACT []
synonym: "ODOD, autosomal recessive" EXACT []
xref: MESH:C567605
is_a: DOID:0060291 ! oculodentodigital dysplasia
is_a: DOID:10629 ! microphthalmia
is_a: DOID:693 ! dental enamel hypoplasia
is_a: DOID:9008797 ! Facial Asymmetry

[Term]
id: DOID:9004642
name: Camptomelic Syndrome Long Limb Type
alt_id: MIM:211990
synonym: "Campomelic syndrome long limb type" EXACT []
xref: MESH:C537977
is_a: DOID:0050463 ! campomelic dysplasia

[Term]
id: DOID:9004643
name: Urologic Neoplasms
def: "Tumors or cancer of the URINARY TRACT in either the male or the female." [MESH:D014571]
synonym: "neoplasm of urinary system" EXACT []
synonym: "tumor of the urinary system" EXACT []
synonym: "tumor of urinary tract" EXACT []
synonym: "urinary tract neoplasm" EXACT []
synonym: "Urinary Tract Neoplasms" EXACT []
synonym: "Urological Neoplasm" EXACT []
synonym: "Urological Neoplasms" EXACT []
synonym: "urologic neoplasm" EXACT []
xref: MESH:D014571
xref: NCI:C25806
is_a: DOID:9007150 ! Urogenital Neoplasms

[Term]
id: DOID:9004644
name: Avitaminosis
def: "A condition due to a deficiency of one or more essential vitamins. (Dorland, 27th ed)" [MESH:D001361]
synonym: "Avitaminoses" EXACT []
synonym: "Vitamin Deficiencies" EXACT []
synonym: "Vitamin Deficiency" EXACT []
xref: EFO:0005878
xref: MESH:D001361
is_a: DOID:5113 ! nutritional deficiency disease

[Term]
id: DOID:9004645
name: Familial Juvenile Hyperuricemic Nephropathy 3
synonym: "Familial juvenile hyperuricemia nephropathy-3" EXACT []
synonym: "HNFJ3" EXACT []
synonym: "HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE TYPE 3" EXACT []
xref: MIM:614227
is_a: DOID:0060062 ! familial juvenile hyperuricemic nephropathy

[Term]
id: DOID:9004646
name: Joint Deformities, Acquired
def: "Deformities acquired after birth as the result of injury or disease. The joint deformity is often associated with rheumatoid arthritis and leprosy." [MESH:D016916]
synonym: "Acquired Joint Deformity" EXACT []
xref: MESH:D016916
xref: RDO:0007011
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:9004647
name: Tauopathy and Respiratory Failure
xref: MESH:C563580
is_a: DOID:11162 ! respiratory failure
is_a: DOID:678 ! progressive supranuclear palsy

[Term]
id: DOID:9004648
name: Chromosome 6 Ring Syndrome
synonym: "Ring 6, Chromosome" EXACT []
xref: MESH:C537763
xref: MONDO:0015440
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9004649
name: Heat Stroke
def: "A condition caused by the failure of body to dissipate heat in an excessively hot environment or during PHYSICAL EXERTION in a hot environment. Contrast to HEAT EXHAUSTION, the body temperature in heat stroke patient is dangerously high with red, hot skin accompanied by DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly." [MESH:D018883]
synonym: "Heatstroke" EXACT []
synonym: "Heat Strokes" EXACT []
synonym: "Heatstrokes" EXACT []
xref: EFO:1001340
xref: MESH:D018883
is_a: DOID:9001103 ! Heat Stress Disorders

[Term]
id: DOID:9004650
name: Mandibular Injuries
def: "Injuries to the lower jaw bone." [MESH:D008338]
synonym: "Mandibular Injury" EXACT []
xref: MESH:D008338
xref: RDO:0006062
is_a: DOID:9004460 ! Maxillofacial Injuries

[Term]
id: DOID:9004651
name: Parana Hard Skin Syndrome
alt_id: MIM:260530
xref: MESH:C564905
is_a: DOID:225 ! syndrome
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9004652
name: Megalocytic Interstitial Nephritis
synonym: "Transplant megalocytic interstitial nephritis (type)" EXACT []
xref: MESH:C536144
xref: RDO:0001599
is_a: DOID:1063 ! interstitial nephritis

[Term]
id: DOID:9004653
name: Hadziselimovic Syndrome
alt_id: MIM:612946
synonym: "Microcephaly-Faciocardioskeletal Syndrome" EXACT []
xref: MESH:C567850
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9004654
name: Immune Deficiency Disease
xref: MESH:C565469
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9004655
name: Pulmonary Echinococcosis
alt_id: RDO:0005431
def: "Helminth infection of the lung caused by Echinococcus granulosus or Echinococcus multilocularis." [MESH:D004445]
synonym: "pulmonary echinococcoses" EXACT []
synonym: "Pulmonary Hydatid Cyst" EXACT []
synonym: "Pulmonary Hydatid Cysts" EXACT []
synonym: "Pulmonary Hydatidoses" EXACT []
synonym: "pulmonary hydatidosis" EXACT []
xref: MESH:D004445
is_a: DOID:1496 ! echinococcosis
is_a: DOID:9003947 ! Parasitic Lung Diseases

[Term]
id: DOID:9004656
name: Airway Remodeling
def: "The structural changes in the number, mass, size and/or composition of the airway tissues." [MESH:D056151]
synonym: "Airway Remodelings" EXACT []
synonym: "Airway Remodelling" EXACT []
synonym: "Airway Remodellings" EXACT []
synonym: "Airway Wall Remodelling" EXACT []
synonym: "Airway Wall Remodellings" EXACT []
synonym: "Asthmatic Airway Remodeling" EXACT []
synonym: "Asthmatic Airway Remodelings" EXACT []
synonym: "Asthmatic Airway Remodelling" EXACT []
synonym: "Asthmatic Airway Remodellings" EXACT []
synonym: "Asthmatic Airway Wall Remodeling" EXACT []
synonym: "Asthmatic Airway Wall Remodelling" EXACT []
synonym: "Small Airway Remodeling" EXACT []
synonym: "Small Airway Remodelings" EXACT []
synonym: "Small Airway Remodelling" EXACT []
synonym: "Small Airway Remodellings" EXACT []
xref: MESH:D056151
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9004657
name: Weight Gain
def: "Increase in BODY WEIGHT over existing weight." [MESH:D015430]
synonym: "Weight Gains" EXACT []
xref: MESH:D015430
is_a: DOID:9003287 ! Body Weight Changes

[Term]
id: DOID:9004658
name: Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction
alt_id: MIM:268315
synonym: "RCDFRD" EXACT []
xref: MESH:C564829
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1062 ! Fanconi syndrome

[Term]
id: DOID:9004659
name: Respiration Disorders
def: "Diseases of the respiratory system in general or unspecified or for a specific respiratory disease not available." [MESH:D012120]
synonym: "Respiration Disorder" EXACT []
xref: MESH:D012120
is_a: DOID:1579 ! respiratory system disease

[Term]
id: DOID:9004660
name: Cerebrospinal Fluid Otorrhea
def: "Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71)" [MESH:D002558]
synonym: "Cerebrospinal Fluid Otorrheas" EXACT []
synonym: "Cerebrospinal Otorrhea" EXACT []
synonym: "Post Traumatic Cerebrospinal Fluid Otorrhea" EXACT []
synonym: "Spontaneous Cerebrospinal Fluid Otorrhea" EXACT []
synonym: "Traumatic Cerebrospinal Fluid Otorrhea" EXACT []
xref: EFO:1001775
xref: MESH:D002558
xref: RDO:0005170
is_a: DOID:9002965 ! Cerebrospinal Fluid Leak

[Term]
id: DOID:9004661
name: Levator Syndrome
synonym: "Levator ani spasm syndrome" EXACT []
synonym: "Levator ani syndrome" EXACT []
xref: MESH:C535890
is_a: DOID:225 ! syndrome
is_a: DOID:3128 ! anus disease
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9004662
name: Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects
xref: RDO:9000703
is_a: DOID:11193 ! syndactyly
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:331 ! central nervous system disease

[Term]
id: DOID:9004663
name: Intestinal Ischemia
def: "A hypoperfusion of the blood through the intestine caused by a pathologic constriction or obstruction of its blood vessels, or an absence of blood circulation." []
synonym: "intestine ischemia" EXACT []
is_a: DOID:326 ! ischemia
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:9004664
name: Viral Hemorrhagic Septicemia
def: "A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see NOVIRHABDOVIRUS)," [MESH:D031941]
synonym: "Viral Haemorrhagic Septicaemia" EXACT []
xref: EFO:0007539
xref: MESH:D031941
is_a: DOID:9000354 ! Fish Diseases
is_a: DOID:9008603 ! Rhabdoviridae Infections
is_a: DOID:9008707 ! Viremia

[Term]
id: DOID:9004665
name: Pectus Carinatum
def: "A developmental anomaly characterized by abnormal anterior protrusion of the STERNUM and adjacent COSTAL CARTILAGE." [MESH:D066166]
synonym: "Arcuate Pectus Carinatum" EXACT []
synonym: "Arcuate Pectus Carinatums" EXACT []
synonym: "Chondrogladiolar Pectus Carinatum" EXACT []
synonym: "Chondrogladiolar Pectus Carinatums" EXACT []
synonym: "Chondromanubrial Pectus Carinatum" EXACT []
synonym: "Chondromanubrial Pectus Carinatums" EXACT []
synonym: "Currarino Silverman Syndrome" EXACT []
synonym: "Pectus Carinatums" EXACT []
synonym: "Pouter Pigeon Breast" EXACT []
synonym: "Pouter Pigeon Breasts" EXACT []
xref: MESH:D066166
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1222 ! cartilage disease
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9004666
name: Major Affective Disorder 4
alt_id: MIM:611247
alt_id: RDO:0015250
synonym: "MAFD4" EXACT []
xref: MESH:C567073
is_a: DOID:3312 ! bipolar disorder

[Term]
id: DOID:9004667
name: Malformations of Cortical Development, Group II
def: "Cortical malformations secondary to abnormal neuronal CELL MIGRATION in NEUROGENESIS. This group includes COBBLESTONE LISSENCEPHALY and PERIVENTRICULAR NODULAR HETEROTOPIA." [MESH:D054081]
synonym: "Cortical Malformations, Group II" EXACT []
synonym: "Malformations Due to Abnormal Neuronal Migration" EXACT []
synonym: "Malformations Secondary to Abnormal Neuronal Migration" EXACT []
synonym: "Neuronal Migration Disorder" EXACT []
synonym: "Neuronal Migration Disorders" EXACT []
xref: MESH:D054081
xref: RDO:0007654
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations

[Term]
id: DOID:9004668
name: Varicella Zoster infection
def: "This is a highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." [NCI:C96407]
synonym: "Varicella-Zoster Virus Infection" EXACT []
xref: EFO:0006509
is_a: DOID:9002834 ! Herpesviridae Infections
created_by: slaulede
creation_date: 2023-02-24T15:59:03Z

[Term]
id: DOID:9004669
name: Paroxysmal Tachycardia
def: "Abnormally rapid heartbeats with sudden onset and cessation." [MESH:D013614]
synonym: "Paroxysmal Reciprocal Tachycardia" EXACT []
synonym: "paroxysmal reciprocal tachycardias" EXACT []
synonym: "paroxysmal tachycardias" EXACT []
xref: EFO:0009493
xref: MESH:D013614
is_a: DOID:9002554 ! Tachycardia

[Term]
id: DOID:9004670
name: Weyers Ulnar Ray/Oligodactyly Syndrome
alt_id: MIM:602418
xref: MESH:C536696
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004671
name: Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome
synonym: "Mende Syndrome" EXACT []
synonym: "Ptosis-Epicanthus Syndrome" EXACT []
xref: MESH:C538657
is_a: DOID:225 ! syndrome
is_a: DOID:9258 ! Waardenburg syndrome

[Term]
id: DOID:9004672
name: Neurocutaneous Melanosis
alt_id: MIM:249400
synonym: "NCMS" EXACT []
synonym: "Neurocutaneous melanosis syndrome" EXACT []
synonym: "NEUROMELANOSIS" EXACT []
xref: MESH:C537387
xref: RDO:0003225
is_a: DOID:9001583 ! Melanosis
is_a: DOID:9001734 ! Neurocutaneous Syndromes

[Term]
id: DOID:9004673
name: Hearing Loss, Cisplatin-Induced
alt_id: RDO:0009807
alt_id: RDO:9000044
def: "Hearing loss due to the toxic effects of the anti-cancer drug cisplatin upon the auditory hair cells of the cochlea." []
synonym: "CIHL" EXACT []
synonym: "cisplatin-induced ototoxicity" EXACT []
synonym: "Hearing Loss, Cisplatin-Induced, Susceptibility To" RELATED []
xref: MIM:613290
is_a: DOID:0070310 ! drug-induced hearing loss
is_a: DOID:10003 ! sensorineural hearing loss

[Term]
id: DOID:9004675
name: Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies
xref: MIM:PS617877
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2021-02-16T15:54:53Z

[Term]
id: DOID:9004676
name: Premature Infant Diseases
alt_id: RDO:0001787
def: "Diseases that occur in PREMATURE INFANTS." [MESH:D007235]
xref: MESH:D007235
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9004678
name: Staghorn Calculi
def: "Renal calculi with a characteristic shape like antlers of a deer, formed as it extends into multiple calices of the RENAL PELVIS. A large number of staghorn calculi as well as other URINARY CALCULI are composed of STRUVITE." [MESH:D000069856]
synonym: "Staghorn Calculus" EXACT []
xref: MESH:D000069856
is_a: DOID:9002315 ! Kidney Calculi

[Term]
id: DOID:9004679
name: Mental Retardation, X-Linked, Syndromic, Ube2a-Related
xref: MESH:C564069
xref: RDO:0013153
is_a: DOID:0060309 ! syndromic X-linked intellectual disability

[Term]
id: DOID:9004680
name: perianal Crohn's disease
def: "This disease is a Crohn disease involving a pathogenic inflammatory response in the anal canal." [EFO:0005627]
synonym: "perianal Crohn disease" EXACT []
xref: EFO:0005627
is_a: DOID:8778 ! Crohn's disease
created_by: slaulede
creation_date: 2023-02-20T18:07:02Z

[Term]
id: DOID:9004681
name: Abdominal Hernia
def: "A protrusion of abdominal structures through the retaining ABDOMINAL WALL. It involves two parts: an opening in the abdominal wall, and a hernia sac consisting of PERITONEUM and abdominal contents. Abdominal hernias include groin hernia (HERNIA, FEMORAL; HERNIA, INGUINAL) and VENTRAL HERNIA." [MESH:D046449]
synonym: "Abdominal Hernias" EXACT []
xref: MESH:D046449
is_a: DOID:1283 ! enterocele

[Term]
id: DOID:9004682
name: Hereditary Painful Callosities
alt_id: MIM:114140
synonym: "painful plantar callosities" EXACT []
xref: MESH:C566180
is_a: DOID:9000353 ! Callosities

[Term]
id: DOID:9004683
name: Enoplida Infections
def: "Infections with nematodes of the order ENOPLIDA." [MESH:D017189]
synonym: "Dioctophyma renale Infection" EXACT []
synonym: "Dioctophyma renale Infections" EXACT []
synonym: "Enoplea infectious disease" EXACT []
synonym: "Enoplida Infection" EXACT []
xref: EFO:0007253
xref: MESH:D017189
xref: RDO:0006740
is_a: DOID:9004589 ! Adenophorea Infections

[Term]
id: DOID:9004684
name: Monosomy
def: "The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1." [MESH:D009006]
synonym: "Monosomies" EXACT []
xref: MESH:D009006
is_a: DOID:9008692 ! Aneuploidy

[Term]
id: DOID:9004685
name: Chromosome 4, 4q Terminal Deletion Syndrome
synonym: "Chromosome 4, Deletion 4q31-qter Syndrome" EXACT []
synonym: "Chromosome 4, Deletion 4q32-qter Syndrome" EXACT []
synonym: "Chromosome 4, Deletion 4q33-qter Syndrome" EXACT []
synonym: "Chromosome 4, monosomy distal 4q" EXACT []
synonym: "Chromosome 4, Partial Monosomy of Distal 4q" EXACT []
xref: MESH:C537641
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9004686
name: Esophageal Diverticulum
def: "Saccular protrusion beyond the wall of the ESOPHAGUS." [MESH:D004936]
synonym: "Esophageal Diverticula" EXACT []
xref: MESH:D004936
is_a: DOID:9001008 ! Diverticulum

[Term]
id: DOID:9004687
name: Pulmonary Vein Stenosis
def: "Narrowing of the PULMONARY VEIN." [MESH:D000071078]
synonym: "Pulmonary Vein Stenoses" EXACT []
xref: MESH:D000071078
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:9004688
name: Morning Sickness
def: "Symptoms of NAUSEA and VOMITING in pregnant women that usually occur in the morning during the first 2 to 3 months of PREGNANCY. Severe persistent vomiting during pregnancy is called HYPEREMESIS GRAVIDARUM." [MESH:D048968]
xref: MESH:D048968
is_a: DOID:9004702 ! Pregnancy Complications
is_a: DOID:9008385 ! Vomiting

[Term]
id: DOID:9004689
name: Multiple Epiphyseal Dysplasia with Myopathy
alt_id: RDO:0012680
xref: MESH:C563420
is_a: DOID:12721 ! multiple epiphyseal dysplasia
is_a: DOID:423 ! myopathy

[Term]
id: DOID:9004691
name: Radiation-Induced Brain Neoplasms
def: "Brain tumors, cancer or neoplasms produced by exposure to ionizing or non-ionizing radiation." []
synonym: "irradiation-associated brain tumor" EXACT []
synonym: "irradiation-induced secondary brain tumor" NARROW []
is_a: DOID:9000277 ! Radiation-Induced Neoplasms
is_a: DOID:9004550 ! Iatrogenic Disease
is_a: DOID:9007502 ! Brain Neoplasms
created_by: rgd
creation_date: 2015-08-28T00:00:00Z

[Term]
id: DOID:9004692
name: Fused Teeth
alt_id: MIM:147251
alt_id: MIM:273000
def: "Two teeth united during development by the union of their tooth germs; the teeth may be joined by the enamel of their crowns, by their root dentin, or by both." [MESH:D005671]
synonym: "Double Tooth" EXACT []
synonym: "Fused Mandibular Incisor" EXACT []
synonym: "Fused Mandibular Incisors" EXACT []
xref: MESH:D005671
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9004693
name: ductal breast hyperplasia
def: "This is hyperplasia of the epithelial cells in the breast ducts. It includes the atypical ductal hyperplasia, papillary intraductal hyperplasia, intraductal myoepitheliosis, and ductal hyperplasia of the usual type." [EFO:0008500]
synonym: "ductal hyperplasia" EXACT []
synonym: "Usual Ductal Breast Hyperplasia" NARROW []
xref: EFO:0008500
xref: EFO:1000612
is_a: DOID:6839 ! breast intraductal proliferative lesion
is_a: DOID:9000937 ! breast hyperplasia
created_by: slaulede
creation_date: 2022-10-07T14:32:39Z

[Term]
id: DOID:9004694
name: Lambotte Syndrome
alt_id: MIM:245552
synonym: "Microcephaly, holoprosencephaly, and intrauterine growth retardation" EXACT []
xref: MESH:C537549
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:4621 ! holoprosencephaly
is_a: DOID:9002231 ! Fetal Growth Retardation

[Term]
id: DOID:9004695
name: Intellectual Developmental Disorder with Autism and Speech Delay
def: "A neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits. Caused by heterozygous mutation in the TBR1 gene on chromosome 2q24. (OMIM)" []
synonym: "autism-related phrase speech delay" EXACT []
synonym: "autism, susceptibility to, 5" RELATED []
synonym: "AUTS5" RELATED []
synonym: "IDDAS" EXACT []
xref: MIM:606053
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12849 ! autistic disorder
is_a: DOID:9005466 ! Language Development Disorders
created_by: mtutaj
creation_date: 2021-02-18T06:46:06Z

[Term]
id: DOID:9004696
name: Neuromuscular Oculoauditory Syndrome
synonym: "neuromuscular disease and ocular or auditory anomalies with or without seizures" EXACT []
synonym: "NMOAS" EXACT []
xref: MIM:618733
is_a: DOID:2742 ! auditory system disease
is_a: DOID:440 ! neuromuscular disease
is_a: DOID:5614 ! eye disease
created_by: slaulede
creation_date: 2020-02-14T13:57:27Z

[Term]
id: DOID:9004697
name: Interferon Gamma, Receptor 1, Deficiency
synonym: "Interferon Gamma Receptor Deficiency" EXACT []
xref: MESH:C535530
xref: NCI:C176806
xref: RDO:0000693
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9004698
name: Morbid Obesity and Spermatogenic Failure
synonym: "MOSPGF" EXACT []
xref: MIM:615703
is_a: DOID:0111910 ! spermatogenic failure
is_a: DOID:11981 ! morbid obesity

[Term]
id: DOID:9004699
name: Myopia 12
alt_id: MIM:609995
synonym: "MYOPIA 12, AUTOSOMAL DOMINANT" EXACT []
synonym: "MYP12" EXACT []
xref: MESH:C566489
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9004700
name: Uniparental Disomy of Chromosome 2
synonym: "Uniparental disomy of 2" EXACT []
xref: MESH:C536470
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:9004701
name: Human Herpesvirus 6 Encephalitis
xref: MESH:C538117
xref: RDO:0004051
is_a: DOID:646 ! viral encephalitis
is_a: DOID:9002501 ! Roseolovirus Infections

[Term]
id: DOID:9004702
name: Pregnancy Complications
def: "Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases." [MESH:D011248]
synonym: "Pregnancy Complication" EXACT []
synonym: "pregnancy disorder" EXACT []
xref: EFO:0009682
xref: MESH:D011248
is_a: DOID:9000723 ! Female Urogenital Diseases and Pregnancy Complications

[Term]
id: DOID:9004703
name: Optic Atrophy Spastic Paraplegia Syndrome
alt_id: MIM:311100
xref: MESH:C564084
is_a: DOID:225 ! syndrome
is_a: DOID:607 ! paraplegia
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:9004704
name: Pythiosis
def: "A granulomatous disease caused by the aquatic organism PYTHIUM insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." [MESH:D058968]
xref: EFO:1001410
xref: MESH:D058968
is_a: DOID:9002781 ! Zoonoses
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9004705
name: Olivopontocerebellar Atrophy 1
synonym: "Menzel type Olivopontocerebellar atrophy" EXACT []
synonym: "Olivopontocerebellar atrophy 4" EXACT []
synonym: "Schut-Haymaker type Olivopontocerebellar atrophy" EXACT []
synonym: "Spinocerebellar atrophy 1" EXACT []
xref: MESH:C538626
xref: RDO:0004551
is_a: DOID:14784 ! olivopontocerebellar atrophy

[Term]
id: DOID:9004706
name: Cutis Laxa-Marfanoid Syndrome
alt_id: MIM:614100
synonym: "Neonatal Cutis Laxa With Marfanoid Phenotype" EXACT []
xref: MESH:C563639
is_a: DOID:14323 ! Marfan syndrome
is_a: DOID:225 ! syndrome
is_a: DOID:3144 ! cutis laxa
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9004707
name: Massive Hepatic Necrosis
def: "Extensive and rapid death of parenchymal cells in the LIVER, often due to exposure to toxic materials. It is characterized by a soft, flabby, yellow-brown wrinkled, and shrunken liver. It was called 'acute yellow atrophy'." [MESH:D047508]
synonym: "Acute Yellow Atrophies" EXACT []
synonym: "Acute Yellow Atrophy" EXACT []
synonym: "Acute Yellow Atrophy of Liver" EXACT []
xref: MESH:D047508
xref: RDO:0007544
is_a: DOID:9004590 ! Acute Liver Failure

[Term]
id: DOID:9004708
name: Peroxisome Biogenesis Disorder, Complementation Group 14
xref: MESH:C563964
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9004709
name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA
def: "An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development with poor speech and language acquisition." [MIM:619005]
synonym: "MADD-RELATED CONDITION" BROAD []
synonym: "NEDDISH" EXACT []
xref: MIM:619005
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:92 ! speech disorder
created_by: slaulede
creation_date: 2020-12-15T13:20:59Z

[Term]
id: DOID:9004710
name: Alcohol-Induced Sudden Cardiac Failure
synonym: "PPA2-RELATED DISORDERS" BROAD []
synonym: "SCFAI" EXACT []
xref: MIM:617223
is_a: DOID:9004354 ! Alcohol-Related Disorders
is_a: DOID:9007925 ! Sudden Cardiac Death

[Term]
id: DOID:9004711
name: Osteosclerosis with Ichthyosis and Fractures
alt_id: MIM:166740
synonym: "Cortical Thickening of Long Bones with Bowing and Ichthyosis" EXACT []
xref: MESH:C563483
is_a: DOID:1697 ! ichthyosis
is_a: DOID:4254 ! osteosclerosis
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9004712
name: Calcium Oxalate Nephrolithiasis 2 with Nephrocalcinosis
def: "An autosomal dominant disorder of renal function characterized by the recurrent formation of CaOx kidney stones. Caused by heterozygous mutation in the OXGR1 gene on chromosome 13q32." [MIM:620374]
synonym: "calcium oxalate nephrolithiasis 2 with or without nephrocalcinosis" EXACT []
synonym: "CAON2" EXACT []
xref: MIM:620374
is_a: DOID:0080652 ! calcium oxalate nephrolithiasis
created_by: mtutaj
creation_date: 2023-05-30T14:35:16Z

[Term]
id: DOID:9004713
name: Acute-Phase Reaction
def: "An early local inflammatory reaction to insult or injury that consists of fever, an increase in inflammatory humoral factors, and an increased synthesis by hepatocytes of a number of proteins or glycoproteins usually found in the plasma." [MESH:D000210]
synonym: "Acute-Phase Response" EXACT []
synonym: "Acute Phase State" EXACT []
xref: MESH:D000210
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:9004714
name: Glomerulonephritis with Isolated C3 Deposits and Factor I Deficiency
xref: MESH:C567033
xref: RDO:0015220
is_a: DOID:2920 ! membranoproliferative glomerulonephritis

[Term]
id: DOID:9004715
name: WHIM Syndrome
synonym: "warts, hypogammaglobulinemia, infections, and myelokathexis" EXACT []
synonym: "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome" EXACT []
synonym: "warts-hypogammaglobulinemia-infections-myelokathexis syndrome" EXACT []
synonym: "WHIM" EXACT []
synonym: "WHIMS" EXACT []
xref: MIM:PS193670
is_a: DOID:1227 ! neutropenia
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2022-09-13T09:56:11Z

[Term]
id: DOID:9004716
name: Vesicoureteral Reflux 3
synonym: "SOX17-RELATED CONDITION" EXACT []
synonym: "VUR3" EXACT []
xref: MIM:613674
xref: MONDO:0013356
is_a: DOID:9620 ! vesicoureteral reflux

[Term]
id: DOID:9004717
name: Post-Exercise Hypotension
def: "Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION." [MESH:D057774]
synonym: "Postexercise Hypotension" EXACT []
synonym: "Post Exercise Hypotensions" EXACT []
synonym: "Postexercise Hypotensions" EXACT []
xref: EFO:1001828
xref: MESH:D057774
is_a: DOID:9004453 ! Orthostatic Intolerance
is_a: DOID:9006024 ! Hypotension

[Term]
id: DOID:9004718
name: Congenital Myasthenic Syndrome 25
synonym: "CMS25" EXACT []
synonym: "presynaptic congenital myasthenic syndrome 25" EXACT []
xref: MIM:618323
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: mtutaj
creation_date: 2019-02-21T00:00:00Z

[Term]
id: DOID:9004719
name: Narcotic-Related Disorders
def: "Disorders related to or resulting from abuse or misuse of NARCOTICS." [MESH:D000079524]
synonym: "MESH:D000079524" EXACT []
synonym: "Narcotic Abuse" NARROW []
synonym: "Narcotic Addiction" NARROW []
synonym: "Narcotic Dependence" NARROW []
is_a: DOID:303 ! substance-related disorder
created_by: slaulede
creation_date: 2020-02-06T18:17:46Z

[Term]
id: DOID:9004720
name: Sensory Ataxia, Autosomal Dominant
alt_id: RDO:0012981
xref: MESH:C563818
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9004721
name: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT
def: "A disease characterized by hypopigmented skin and hair with normally pigmented irides; organomegaly including enlargement of liver, kidney, and spleen; and delayed myelination on brain MRI accompanied by developmental delay in both gross and fine motor skills. Biopsy findings from skin and other organs are consistent with a lysosomal storage disorder." [MIM:618541]
synonym: "HOD" EXACT []
xref: MIM:618541
is_a: DOID:3211 ! lysosomal storage disease
is_a: DOID:9005660 ! Hypopigmentation
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2019-10-08T18:24:55Z

[Term]
id: DOID:9004722
name: Brachydactyly, Coloboma, and Anterior Segment Dysgenesis
alt_id: MIM:610023
xref: MESH:C566484
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:12270 ! coloboma

[Term]
id: DOID:9004723
name: Cattle Diseases
def: "Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus." [MESH:D002418]
synonym: "Bovine Disease" EXACT []
synonym: "Bovine Diseases" EXACT []
synonym: "Cattle Disease" EXACT []
xref: MESH:D002418
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9004724
name: Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism
alt_id: MIM:606242
synonym: "Kondoh Syndrome" EXACT []
xref: MESH:C565246
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9006836 ! Contracture
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004725
name: Chromosome 9 Ring
xref: MESH:C538022
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9004726
name: Perrault Syndrome 4
synonym: "PRLTS4" EXACT []
xref: MIM:615300
is_a: DOID:0050857 ! Perrault syndrome

[Term]
id: DOID:9004727
name: Visceral Heterotaxy 12, Autosomal
def: "An embryonic developmental disorder characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. Caused by homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11." [MIM:619702]
synonym: "HTX12" EXACT []
xref: MIM:619702
is_a: DOID:0050545 ! visceral heterotaxy
created_by: mtutaj
creation_date: 2022-01-27T10:38:16Z

[Term]
id: DOID:9004728
name: Ichthyosis Exfoliativa
xref: MESH:C563978
is_a: DOID:1697 ! ichthyosis

[Term]
id: DOID:9004729
name: Nontuberculous Mycobacterium Infections
def: "Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see MYCOBACTERIUM AVIUM COMPLEX;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae." [MESH:D009165]
synonym: "Atypical Mycobacterial Infection, Disseminated" EXACT []
synonym: "Atypical Mycobacterial Infection, Familial Disseminated" EXACT []
synonym: "Atypical Mycobacteriosis, Familial Disseminated" EXACT []
synonym: "Atypical Mycobacterium Infection" EXACT []
synonym: "Atypical Mycobacterium Infections" EXACT []
synonym: "disseminated atypical mycobacterial infection" EXACT []
synonym: "Familial Atypical Mycobacterioses" EXACT []
synonym: "Familial Atypical Mycobacteriosis" EXACT []
synonym: "FAMILIAL ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL DOMINANT" NARROW []
synonym: "FAMILIAL ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE" NARROW []
synonym: "MSMD BCG Infection, Generalized Familial" EXACT []
synonym: "Mycobacterial Disease, Mendelian Susceptibility To" NARROW []
synonym: "Nontuberculous Mycobacterium Infection" EXACT []
xref: EFO:1001498
xref: MESH:D009165
is_a: DOID:9001415 ! Mycobacterium Infections

[Term]
id: DOID:9004730
name: Romano-Ward Syndrome
def: "A form of long QT syndrome that is without congenital deafness." [MESH:D029597]
synonym: "RWS" EXACT []
synonym: "Ventricular Fibrillation with Prolonged QT Interval" EXACT []
synonym: "WRS" EXACT []
xref: MESH:D029597
xref: ORDO:101016
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:2843 ! long QT syndrome

[Term]
id: DOID:9004732
name: Congenital Absence of the Sternocleidomastoid Muscle
xref: MESH:C535977
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9004734
name: Microcephaly Deafness Syndrome
alt_id: MIM:156620
synonym: "Kawashima-Tsuji syndrome" EXACT []
synonym: "Syndrome of microcephaly, deafness-malformed ears, mental retardation and peculiar facies" EXACT []
xref: MESH:C537326
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9004735
name: Idiopathic Hypersomnolence
alt_id: RDO:0007325
def: "A sleep disorder of central nervous system origin characterized by prolonged nocturnal sleep and periods of daytime drowsiness. Affected individuals experience difficulty with awakening in the morning and may have associated sleep drunkenness, automatic behaviors, and memory disturbances. This condition differs from narcolepsy in that daytime sleep periods are longer, there is no association with CATAPLEXY, and the multiple sleep latency onset test does not record sleep-onset rapid eye movement sleep. (From Chokroverty, Sleep Disorders Medicine, 1994, pp319-20; Psychiatry Clin Neurosci 1998 Apr:52(2):125-129)" [MESH:D020177]
synonym: "Idiopathic Central Nervous System Hypersomnolence" EXACT []
synonym: "Idiopathic CNS Hypersomnolence" EXACT []
synonym: "Idiopathic CNS Hypersomnolences" EXACT []
synonym: "Idiopathic Hypersomnia" EXACT []
synonym: "Idiopathic Hypersomnias" EXACT []
synonym: "Idiopathic Hypersomnolences" EXACT []
xref: MESH:D020177
is_a: DOID:8619 ! recurrent hypersomnia

[Term]
id: DOID:9004736
name: Cole-Carpenter Syndrome 2
synonym: "CLCRP2" EXACT []
synonym: "SEC24D-RELATED CONDITION" EXACT []
xref: MIM:616294
is_a: DOID:0060438 ! Cole-Carpenter syndrome
created_by: rgd
creation_date: 2017-02-28T00:00:00Z

[Term]
id: DOID:9004738
name: Immunodeficiency 82
def: "A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. Caused by heterozygous mutation in the SYK gene on chromosome 9q22. (OMIM)" []
synonym: "IMD82" EXACT []
synonym: "immunodeficiency 82 with systemic inflammation" EXACT []
xref: MIM:619381
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9005372 ! Inflammation
created_by: mtutaj
creation_date: 2021-06-23T11:23:04Z

[Term]
id: DOID:9004739
name: Cicatrix
def: "The fibrous tissue that replaces normal tissue during the process of WOUND HEALING." [MESH:D002921]
synonym: "Cicatrization" EXACT []
synonym: "Scar" EXACT []
synonym: "Scarring" EXACT []
synonym: "Scars" EXACT []
synonym: "severe cutaneous adverse reaction" RELATED []
xref: EFO:0006346
xref: MESH:D002921
xref: RDO:0004747
is_a: DOID:9000784 ! Fibrosis

[Term]
id: DOID:9004740
name: Cementoma
def: "An odontogenic fibroma in which cells have developed into cementoblasts and which consists largely of cementum." [MESH:D002485]
synonym: "Cementomas" EXACT []
xref: MESH:D002485
is_a: DOID:9006134 ! Odontogenic Tumors

[Term]
id: DOID:9004741
name: Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia
alt_id: MIM:225050
synonym: "Hedh Syndrome" EXACT []
xref: MESH:C565604
is_a: DOID:1459 ! hypothyroidism
is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia
is_a: DOID:9001591 ! Ciliary Motility Disorders

[Term]
id: DOID:9004742
name: Acrodynia
def: "A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)" [MESH:D000170]
synonym: "Acrodynic Erythema" EXACT []
synonym: "Chronic Childhood Mercurialism" EXACT []
synonym: "Chronic Childhood Mercurialisms" EXACT []
synonym: "Feer's Disease" EXACT []
synonym: "Feer Disease" EXACT []
synonym: "Feers Disease" EXACT []
synonym: "Pink Disease" EXACT []
synonym: "Swift's Disease" EXACT []
synonym: "Swift Disease" EXACT []
synonym: "Swifts Disease" EXACT []
xref: EFO:1001756
xref: MESH:D000170
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9004871 ! Mercury Poisoning, Nervous System

[Term]
id: DOID:9004743
name: Neurofaciodigitorenal Syndrome
alt_id: MIM:256690
synonym: "Freire-Maia Pinheiro Opitz syndrome" EXACT []
synonym: "NFDR Syndrome" EXACT []
xref: MESH:C537388
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004744
name: Sleep Bruxism
def: "A sleep disorder characterized by grinding and clenching of the teeth and forceful lateral or protrusive jaw movements. Sleep bruxism may be associated with TOOTH INJURIES; TEMPOROMANDIBULAR JOINT DISORDERS; sleep disturbances; and other conditions." [MESH:D020186]
synonym: "Adult Sleep Bruxism" EXACT []
synonym: "Adult Sleep Bruxisms" EXACT []
synonym: "Childhood Sleep Bruxism" EXACT []
synonym: "Childhood Sleep Bruxisms" EXACT []
synonym: "Nocturnal Bruxism" EXACT []
synonym: "Nocturnal Bruxisms" EXACT []
synonym: "Nocturnal Teeth Grinding Disorder" EXACT []
synonym: "Sleep Bruxisms" EXACT []
synonym: "Sleep Related Bruxism" EXACT []
synonym: "Sleep-Related Bruxisms" EXACT []
xref: MESH:D020186
is_a: DOID:2846 ! bruxism
is_a: DOID:9004040 ! Parasomnias

[Term]
id: DOID:9004745
name: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES
synonym: "RDGCA" EXACT []
synonym: "Retinal dystrophy with inner nuclear layer and ganglion cell anomalies" EXACT []
xref: MIM:616079
xref: NCI:C168587
xref: ORDO:397758
is_a: DOID:8501 ! fundus dystrophy

[Term]
id: DOID:9004746
name: Spastic Diplegia Infantile Type
alt_id: MIM:270600
synonym: "Hereditary spastic diplegia with mental retardation" EXACT []
synonym: "SPASTIC DIPLEGIA AND IMPAIRED INTELLECTUAL DEVELOPMENT" EXACT []
synonym: "SPASTIC DIPLEGIA AND MENTAL RETARDATION" EXACT []
xref: MESH:C537481
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:9004747
name: Milk Sickness
def: "An acute, often fatal disease caused by the ingestion of milk, milk products, or the flesh of cattle or sheep which have a disease known as trembles. It is marked by weakness, anorexia, vomiting, constipation, and sometimes muscular tremors. It is caused by poisoning by white snakeroot (Eupatorium rugosum) and the rayless goldenrod (Haplopappus heterophyllus). (From Dorland, 27th ed)" [MESH:D018602]
xref: MESH:D018602
is_a: DOID:9003189 ! Plant Poisoning

[Term]
id: DOID:9004748
name: Hennekam Lymphangiectasia-Lymphedema Syndrome 3
def: "HKLLS3 is a disease characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity. HKLLS3 is caused by homozygous or compound heterozygous mutation in the ADAMTS3 gene on chromosome 4q13. (OMIM)" [MIM:618154]
synonym: "HKLLS3" EXACT []
xref: MIM:618154
is_a: DOID:0060366 ! Hennekam syndrome
created_by: slaulede
creation_date: 2019-01-14T17:16:42Z

[Term]
id: DOID:9004749
name: Omphalocele, Cleft Palate Syndrome Lethal
alt_id: MIM:258320
xref: MESH:C537747
is_a: DOID:0060321 ! umbilical hernia
is_a: DOID:674 ! cleft palate

[Term]
id: DOID:9004750
name: Thrombocytopenia with Elevated Serum Iga and Renal Disease
alt_id: MIM:314000
xref: MESH:C564051
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9004751
name: Nausea
def: "An unpleasant sensation in the stomach usually accompanied by the urge to vomit. Common causes are early pregnancy, sea and motion sickness, emotional stress, intense pain, food poisoning, and various enteroviruses." [MESH:D009325]
xref: MESH:D009325
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:9004753
name: Obesity Hypoventilation Syndrome
alt_id: MIM:257500
def: "HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately." [MESH:D010845]
synonym: "Pickwickian Syndrome" EXACT []
xref: EFO:1001382
xref: MESH:D010845
is_a: DOID:0050848 ! obstructive sleep apnea
is_a: DOID:225 ! syndrome
is_a: DOID:9003671 ! Hypoventilation
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9004754
name: Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia
alt_id: MIM:608509
xref: MESH:C563920
is_a: DOID:0050634 ! alopecia universalis
is_a: DOID:0080833 ! laryngomalacia
is_a: DOID:14448 ! 46,XY sex reversal

[Term]
id: DOID:9004755
name: Hemophilic Arthropathy
def: "Joint degeneration following recurrent bleeding episodes in patients with severe hemophilia." []
xref: RDO:9000388
is_a: DOID:801 ! hemarthrosis
created_by: rgd
creation_date: 2016-02-19T00:00:00Z

[Term]
id: DOID:9004756
name: Brain Hypoxia
def: "A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives." [MESH:D002534]
synonym: "Anoxic Brain Damage" EXACT []
synonym: "Anoxic Encephalopathies" EXACT []
synonym: "Anoxic Encephalopathy" EXACT []
synonym: "Brain Anoxia" EXACT []
synonym: "Cerebral Anoxia" EXACT []
synonym: "Cerebral Hypoxia" EXACT []
synonym: "Hypoxic Brain Damage" EXACT []
synonym: "Hypoxic Encephalopathies" EXACT []
synonym: "Hypoxic Encephalopathy" EXACT []
xref: EFO:1001766
xref: MESH:D002534
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9004757
name: Axial Myopathy, Late-Onset
def: "A non-specific myopathic disease, restricted to para-spinal musculature." []
xref: RDO:9000336
is_a: DOID:0080000 ! muscular disease

[Term]
id: DOID:9004758
name: Brain-Lung-Thyroid Syndrome
alt_id: MIM:610978
synonym: "CAHTP" EXACT []
synonym: "choreoathetosis and congenital hypothyroidism" EXACT []
synonym: "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction" EXACT []
synonym: "choreoathetosis, hypothyroidism, and neonatal respiratory distress" EXACT []
xref: MESH:C567034
xref: NCI:C202546
is_a: DOID:0050328 ! congenital hypothyroidism
is_a: DOID:12716 ! newborn respiratory distress syndrome
is_a: DOID:12859 ! choreatic disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008739 ! Athetosis

[Term]
id: DOID:9004759
name: Familial Actinic Keratosis
alt_id: MIM:148390
xref: MESH:C567190
is_a: DOID:8866 ! actinic keratosis

[Term]
id: DOID:9004760
name: Paroxysmal Dyspnea
alt_id: RDO:0005420
def: "A disorder characterized by sudden attacks of respiratory distress in at rest patients with HEART FAILURE and PULMONARY EDEMA. It usually occurs at night after several hours of sleep in a reclining position. Patients awaken with a feeling of suffocation, coughing, a cold sweat, and TACHYCARDIA. When there is significant WHEEZING, it is called cardiac asthma." [MESH:D004418]
synonym: "Asthma, Cardiac" EXACT []
synonym: "ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO" RELATED []
synonym: "Dyspnea, Paroxysmal Nocturnal" EXACT []
synonym: "Paroxysmal Dyspneas" EXACT []
xref: MESH:D004418
is_a: DOID:6000 ! congestive heart failure
is_a: DOID:9000590 ! Dyspnea

[Term]
id: DOID:9004761
name: Artificial Lens Implant Migration
def: "The shifting and or tilting of implanted artificial lens resulting in impaired vision." [MESH:D060437]
synonym: "Artificial Intra ocular Implant Dislocation" EXACT []
synonym: "Artificial Lens Implant Dislocation" EXACT []
xref: MESH:D060437
xref: RDO:0010037
is_a: DOID:110 ! lens disease
is_a: DOID:9005684 ! Foreign-Body Migration

[Term]
id: DOID:9004762
name: Familial Atrial Fibrillation 8
alt_id: MIM:613055
synonym: "ATFB8" EXACT []
xref: MESH:C567802
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9004763
name: Trauma and Stressor Related Disorders
def: "Disorders in which exposure to a traumatic or stressful event is explicitly a diagnostic criterion." [MESH:D000068099]
synonym: "occupation-related stress disorder" NARROW []
xref: EFO:0005250
xref: MESH:D000068099
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:9004764
name: Lithiasis
def: "A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract." [MESH:D020347]
synonym: "Calculoses" EXACT []
synonym: "Calculosis" EXACT []
synonym: "Lithiases" EXACT []
xref: MESH:D020347
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9004765
name: Cardioacrofacial Dysplasia 1
synonym: "CAFD1" EXACT []
xref: MIM:619142
is_a: DOID:9000250 ! Cardioacrofacial Dysplasia
created_by: mtutaj
creation_date: 2021-01-04T17:02:20Z

[Term]
id: DOID:9004766
name: Familial Hemophagocytic Lymphohistiocytosis 6
synonym: "FHL6" EXACT []
synonym: "IMDYSHI" EXACT []
synonym: "Immune dysregulation and systemic hyperinflammation syndrome" EXACT []
xref: MIM:618998
is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses
created_by: mtutaj
creation_date: 2020-09-02T13:40:07Z

[Term]
id: DOID:9004767
name: Acute Stress Disorders, Traumatic
def: "A class of traumatic stress disorders that is characterized by the significant dissociative states seen immediately after overwhelming trauma. By definition it cannot last longer than 1 month, if it persists, a diagnosis of post-traumatic stress disorder (STRESS DISORDERS, POST-TRAUMATIC) is more appropriate." [MESH:D040701]
synonym: "acute stress disorder" EXACT []
synonym: "acute stress disorders" EXACT []
xref: MESH:D040701
is_a: DOID:6088 ! acute stress disorder

[Term]
id: DOID:9004768
name: Carey-Fineman-Ziter Syndrome 2
def: "An autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Caused by homozygous mutation in MYMX gene on chromosome 6p21." [MIM:619941]
synonym: "CFZS2" EXACT []
xref: MIM:619941
is_a: DOID:0080194 ! Carey-Fineman-Ziter syndrome
created_by: mtutaj
creation_date: 2022-07-01T12:25:30Z

[Term]
id: DOID:9004769
name: Broad-Betalipoproteinemia
synonym: "broad beta disease" EXACT []
synonym: "broad-beta hyperlipoproteinemia" EXACT []
xref: MESH:C566264
is_a: DOID:3145 ! hyperlipoproteinemia type III

[Term]
id: DOID:9004770
name: Preaxial Hallucal Polydactyly
alt_id: MIM:601759
xref: MESH:C566632
is_a: DOID:9005329 ! Preaxial Polydactyly

[Term]
id: DOID:9004771
name: Vascular Remodeling
def: "The active alterations of vascular wall structures, often leading to elevated VASCULAR RESISTANCE. It is associated with AGING; ATHEROSCLEROSIS; DIABETES MELLITUS; HYPERTENSION; PREGNANCY; PULMONARY HYPERTENSION; and STROKE, but is also a normal part of EMBRYOGENESIS." [MESH:D066253]
synonym: "Pulmonary Arterial Remodeling" EXACT []
synonym: "Pulmonary Arterial Remodelings" EXACT []
synonym: "Vascular Remodelings" EXACT []
xref: MESH:D066253
is_a: DOID:9004611 ! Pathologic Processes
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9004772
name: Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
alt_id: MIM:601352
xref: MESH:C563342
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004773
name: Genu Valgum, St Helena Familial
alt_id: MIM:137370
synonym: "Hereditary pubertal genu valgum" EXACT []
xref: MESH:C537685
is_a: DOID:9008214 ! Genu Valgum

[Term]
id: DOID:9004774
name: Hyperphosphatemia, Polyuria, and Seizures
alt_id: MIM:239350
xref: MESH:C565494
is_a: DOID:0050459 ! hyperphosphatemia
is_a: DOID:1826 ! epilepsy
is_a: DOID:9005274 ! Polyuria

[Term]
id: DOID:9004775
name: Trichoepitheliomas, Multiple Desmoplastic
alt_id: MIM:190345
xref: MESH:C566034
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:9004776
name: Ectopia Pupillae
alt_id: MIM:129750
def: "A congenital eye malformation in which the pupils are displaced from their normal central position. (OMIM)" []
synonym: "ectopic pupil" EXACT []
synonym: "ectopic pupils" EXACT []
synonym: "familial ectopic pupil" EXACT []
xref: MESH:C536185
is_a: DOID:238 ! pupil disease

[Term]
id: DOID:9004777
name: Mediastinal Emphysema
def: "Presence of air in the mediastinal tissues due to leakage of air from the tracheobronchial tree, usually as a result of trauma." [MESH:D008478]
synonym: "Mediastinal Emphysemas" EXACT []
synonym: "Pneumomediastinum" EXACT []
xref: MESH:D008478
is_a: DOID:9002884 ! Emphysema
is_a: DOID:9007003 ! Mediastinal Diseases

[Term]
id: DOID:9004778
name: Exostoses with Anetodermia and Brachydactyly Type E
alt_id: MIM:133690
xref: MESH:C565034
is_a: DOID:203 ! exostosis
is_a: DOID:9006392 ! Anetoderma
is_a: DOID:9006432 ! Brachydactyly, Type E

[Term]
id: DOID:9004779
name: Autoimmune Lymphoproliferative Syndrome, Type IB
synonym: "ALPS1B" EXACT []
synonym: "autoimmune lymphoproliferative syndrome, type 1B" EXACT []
xref: MESH:C566614
is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome

[Term]
id: DOID:9004780
name: Carcinoma, Krebs 2
def: "A transplantable neoplasm of mice." [MESH:D002287]
xref: EFO:1001007
xref: MESH:D002287
is_a: DOID:305 ! carcinoma
is_a: DOID:9002170 ! Experimental Neoplasms

[Term]
id: DOID:9004781
name: Congenital Ptosis, Hereditary 1
alt_id: MIM:178300
alt_id: RDO:0015006
synonym: "PTOS1" EXACT []
xref: MESH:C566737
is_a: DOID:0060261 ! congenital ptosis

[Term]
id: DOID:9004782
name: Levator-Medial Rectus Synkinesis
alt_id: MIM:151610
synonym: "OCLEVS" EXACT []
synonym: "Oculomotor-Levator Synkinesis" EXACT []
xref: MESH:C563625
is_a: DOID:1279 ! ocular motility disease
is_a: DOID:9005416 ! Synkinesis

[Term]
id: DOID:9004783
name: Transient Neonatal Diabetes Mellitus, 1
alt_id: MESH:C579872
alt_id: MIM:601410
def: "TNDM1 is caused by overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains only 2 expressed genes, PLAGL1 and HYMAI. (OMIM)" []
synonym: "6q24-Related Diabetes Mellitus" EXACT []
synonym: "6q24-related transient neonatal diabetes mellitus" EXACT []
synonym: "6q24-Tndm" EXACT []
synonym: "TNDM1" EXACT []
synonym: "TNDM type 1" EXACT []
xref: MESH:C563322
is_a: DOID:0060334 ! transient neonatal diabetes mellitus

[Term]
id: DOID:9004785
name: Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant
xref: MESH:C563305
is_a: DOID:2583 ! agammaglobulinemia

[Term]
id: DOID:9004786
name: Carbon Tetrachloride Poisoning
def: "Poisoning that results from ingestion, injection, inhalation, or skin absorption of CARBON TETRACHLORIDE." [MESH:D002252]
synonym: "Carbon Tetrachloride Poisonings" EXACT []
synonym: "CCl4 Poisoning" EXACT []
synonym: "CCl4 Poisonings" EXACT []
xref: MESH:D002252
xref: RDO:0005108
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:9004787
name: Familial Horizontal Gaze Palsy with Progressive Scoliosis
synonym: "Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy" EXACT []
synonym: "Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze" EXACT []
synonym: "Hgpps" EXACT []
synonym: "HGPPS OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS" NARROW []
synonym: "Horizontal Gaze Palsy with Progressive Scoliosis" EXACT []
synonym: "OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS" NARROW []
xref: MESH:C564593
xref: MIM:PS607313
is_a: DOID:0060249 ! scoliosis
is_a: DOID:12558 ! chronic progressive external ophthalmoplegia

[Term]
id: DOID:9004789
name: Extranodal Extension
def: "A penetration of LYMPH NODE metastatic cells through the nodal capsule into the perinodal fatty tissue used in a TUMOR STAGING system (the TNM staging system)." [MESH:D000079822]
synonym: "Extracapsular Extension" EXACT []
synonym: "Extranodal Tumor Deposits" EXACT []
synonym: "Tumor Deposit" EXACT []
xref: MESH:D000079822
is_a: DOID:9000965 ! Neoplasm Metastasis
created_by: slaulede
creation_date: 2020-02-06T17:14:10Z

[Term]
id: DOID:9004790
name: Short Stature and Locking Fingers
xref: MESH:C537603
xref: RDO:0003473
is_a: DOID:381 ! arthropathy
is_a: DOID:9002231 ! Fetal Growth Retardation

[Term]
id: DOID:9004791
name: Stapes Ankylosis with Broad Thumbs and Toes
synonym: "ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY" EXACT []
synonym: "ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY TEUNISSEN-CREMERS SYNDROME STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM" EXACT []
synonym: "TEUNISSEN-CREMERS SYNDROME" EXACT []
xref: MIM:184460
is_a: DOID:11193 ! syndactyly
is_a: DOID:227 ! ankylosis
created_by: slaulede
creation_date: 2020-03-06T10:07:31Z

[Term]
id: DOID:9004792
name: Familial Mixed Cryoglobulinemia
alt_id: MIM:123550
synonym: "Meltzer Syndrome" EXACT []
xref: MESH:C565141
is_a: DOID:2917 ! cryoglobulinemia
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9004793
name: Brachydactyly, Intraventricular Septal Defect, and Deafness
alt_id: MIM:602561
xref: MESH:C566521
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1657 ! ventricular septal defect
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004794
name: Granuloma, Plasma Cell
def: "A slow-growing benign pseudotumor in which plasma cells greatly outnumber the inflammatory cells." [MESH:D006104]
synonym: "Inflammatory Pseudotumor" EXACT []
synonym: "Inflammatory Pseudotumors" EXACT []
synonym: "Plasma Cell Granulomas" EXACT []
xref: MESH:D006104
xref: RDO:0005701
is_a: DOID:9002019 ! Granuloma

[Term]
id: DOID:9004795
name: Congenital Hand Deformities
def: "Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth." [MESH:D006228]
synonym: "Congenital Hand Deformity" EXACT []
synonym: "HAND OLIGODACTYLY" NARROW []
synonym: "OLIGODACTYLY (HANDS)" NARROW []
xref: MESH:D006228
is_a: DOID:9004402 ! Congenital Upper Extremity Deformities
is_a: DOID:9008871 ! Hand Deformities

[Term]
id: DOID:9004796
name: Familial Static Ophthalmoplegia
alt_id: MIM:165000
synonym: "congenital hereditary nonprogressive external ophthalmoplegia" EXACT []
xref: MESH:C563500
is_a: DOID:539 ! ophthalmoplegia

[Term]
id: DOID:9004797
name: Fetal Nutrition Disorders
def: "Disorders caused by nutritional imbalance, either overnutrition or undernutrition, in the FETUS in utero." [MESH:D048070]
synonym: "Fetal Malnutrition" EXACT []
synonym: "Fetal Nutrition Disorder" EXACT []
xref: MESH:D048070
is_a: DOID:9001984 ! Fetal Diseases
is_a: DOID:9005695 ! Malnutrition

[Term]
id: DOID:9004798
name: Drug Resistant Epilepsy
def: "Epileptic condition in which adequate trials of two tolerated and appropriately chosen and used ANTIEPILEPTIC DRUGS schedules to achieve sustained seizure freedom failed." [MESH:D000069279]
synonym: "Drug Refractory Epilepsies" EXACT []
synonym: "Drug Refractory Epilepsy" EXACT []
synonym: "Drug Resistant Epilepsies" EXACT []
synonym: "Intractable Epilepsies" EXACT []
synonym: "Intractable Epilepsy" EXACT []
synonym: "Medication Resistant Epilepsies" EXACT []
synonym: "Medication Resistant Epilepsy" EXACT []
xref: MESH:D000069279
xref: RDO:0016011
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:9004799
name: KURY-ISIDOR SYNDROME
def: "This disease is characterized mainly by mild global developmental delay apparent from infancy or early childhood with walking delayed by a few years and speech delay. Most patients have behavioral problems, including autism." [MIM:619762]
synonym: "KURIS" EXACT []
xref: MIM:619762
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2022-03-21T12:47:56Z

[Term]
id: DOID:9004800
name: Uveal Effusion Syndrome
def: "Rare disease characterized by suprachoroidal fluid accumulation between the CHOROID and the SCLERA, annular detachment of the CHOROID, often with secondary RETINAL DETACHMENT; OPTIC DISK EDEMA, and minimal signs of UVEITIS and INTRAOCULAR PRESSURE changes." [MESH:D000080323]
xref: MESH:D000080323
is_a: DOID:9006562 ! Choroidal Effusions
created_by: slaulede
creation_date: 2020-02-07T14:29:30Z

[Term]
id: DOID:9004801
name: Circumvallate Placenta Syndrome
alt_id: MIM:215550
xref: MESH:C565847
is_a: DOID:11162 ! respiratory failure
is_a: DOID:225 ! syndrome
is_a: DOID:8488 ! polyhydramnios
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9004802
name: Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type
synonym: "Hypocholinesterasemia, Fluoride-Resistant, Japanese Type" EXACT []
xref: MESH:C566751
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9004804
name: Chromosome 6, Monosomy 6q
synonym: "Chromosome 6q deletion" EXACT []
synonym: "Deletion 6q" EXACT []
synonym: "Monosomy 6q" EXACT []
xref: GARD:3760
xref: MESH:C537807
xref: MONDO:0016905
xref: ORDO:262047
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9004805
name: Central Nervous System Parasitic Infections
def: "Infections of the brain, spinal cord, and meninges caused by parasites." [MESH:D020807]
xref: MESH:D020807
xref: RDO:0007434
is_a: DOID:1398 ! parasitic infectious disease
is_a: DOID:9000025 ! Central Nervous System Infections

[Term]
id: DOID:9004806
name: Thanatophoric Dysplasia, Type II
alt_id: MIM:187601
synonym: "cloverleaf skull with thanatophoric dwarfism" EXACT []
synonym: "TD2" EXACT []
synonym: "Thanatophoric Dysplasia, Type 2" EXACT []
synonym: "Thanatophoric dysplasia with Kleeblattschaedel" EXACT []
synonym: "thanatophoric dysplasia with straight femurs and cloverleaf skull" EXACT []
xref: MESH:C536508
is_a: DOID:13481 ! thanatophoric dysplasia

[Term]
id: DOID:9004807
name: Catatonic Schizophrenia
def: "A type of schizophrenia characterized by abnormality of motor behavior which may involve particular forms of stupor, rigidity, excitement or inappropriate posture." [MESH:D012560]
synonym: "Catatonic Schizophrenias" EXACT []
synonym: "periodic catatonia" EXACT []
xref: MESH:D012560
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:9004808
name: Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV
alt_id: MIM:600384
xref: MESH:C563942
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9004809
name: Cartilage Hair Hypoplasia Like Syndrome
xref: MESH:C535915
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9004810
name: Neurocysticercosis
def: "Infection of the brain, spinal cord, or perimeningeal structures with the larval forms of the genus TAENIA (primarily T. solium in humans). Lesions formed by the organism are referred to as cysticerci. The infection may be subacute or chronic, and the severity of symptoms depends on the severity of the host immune response and the location and number of lesions. SEIZURES represent the most common clinical manifestation although focal neurologic deficits may occur. (From Joynt, Clinical Neurology, 1998, Ch27, pp46-50)" [MESH:D020019]
synonym: "brain cysticercosis" EXACT []
synonym: "Central Nervous System Cysticercosis" EXACT []
synonym: "neurocysticercoses" EXACT []
xref: MESH:D020019
is_a: DOID:10079 ! cysticercosis
is_a: DOID:9000928 ! Central Nervous System Helminthiasis

[Term]
id: DOID:9004811
name: Vascular Hyalinosis
alt_id: MIM:277175
xref: MESH:C564750
is_a: DOID:13250 ! diarrhea
is_a: DOID:178 ! vascular disease
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9004812
name: Juvenile Systemic Scleroderma
xref: MESH:C537703
is_a: DOID:418 ! systemic scleroderma

[Term]
id: DOID:9004813
name: Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia
alt_id: MIM:604380
xref: MESH:C565783
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:9003071 ! Postaxial Polydactyly

[Term]
id: DOID:9004814
name: Chromosome Aberrations
def: "Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS." [MESH:D002869]
synonym: "Autosome Abnormalities" EXACT []
synonym: "Autosome Abnormality" EXACT []
synonym: "Chromosomal Aberration" EXACT []
synonym: "Chromosomal Aberrations" EXACT []
synonym: "Chromosomal Abnormalities" EXACT []
synonym: "Chromosomal Abnormality" EXACT []
synonym: "Chromosome Aberration" EXACT []
synonym: "Chromosome Abnormalities" EXACT []
synonym: "Chromosome Abnormality" EXACT []
synonym: "Cytogenetic Aberration" EXACT []
synonym: "Cytogenetic Aberrations" EXACT []
synonym: "Cytogenetic Abnormalities" EXACT []
synonym: "Cytogenetic Abnormality" EXACT []
xref: EFO:0000336
xref: MESH:D002869
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9004816
name: Jaw Cysts
def: "Saccular lesions lined with epithelium and contained within pathologically formed cavities in the jaw; also nonepithelial cysts (pseudocysts) as they apply to the jaw, e.g., traumatic or solitary cyst, static bone cavity, and aneurysmal bone cyst. True jaw cysts are classified as odontogenic or nonodontogenic." [MESH:D007570]
synonym: "Jaw Cyst" EXACT []
xref: MESH:D007570
is_a: DOID:9003876 ! Jaw Diseases
is_a: DOID:9008327 ! Bone Cysts

[Term]
id: DOID:9004817
name: Hypophysitis
def: "Inflammation of the PITUITARY GLAND." [MESH:D000072659]
synonym: "Hypophysitides" EXACT []
xref: MESH:D000072659
is_a: DOID:53 ! pituitary gland disease

[Term]
id: DOID:9004818
name: Zinc, Elevated Plasma
synonym: "ALBUMIN BINDING OF ZINC, ELEVATED" EXACT []
synonym: "HYPERZINCEMIA, FAMILIAL DYSALBUMINEMIC  HYPERZINCEMIA AND HYPERCALPROTECTINEMIA" NARROW []
xref: MIM:194470
xref: RDO:0008207
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:9004819
name: Juvenile Paralysis Agitans of Hunt
alt_id: MIM:168100
alt_id: RDO:0012184
synonym: "Parkinson's Disease, Juvenile, Of Hunt" EXACT []
synonym: "Parkinson Disease, Juvenile, Of Hunt" EXACT []
xref: MESH:C562469
is_a: DOID:0060893 ! juvenile-onset Parkinson's disease

[Term]
id: DOID:9004820
name: Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia due to
alt_id: MIM:266120
synonym: "Hemolytic Anemia due to P5N Deficiency" EXACT []
synonym: "Hemolytic Anemia due to UMPH1 Deficiency" EXACT []
synonym: "P5N DEFICIENCY" EXACT []
synonym: "Pyrimidine 5-Prime Nucleotidase Deficiency, Hemolytic Anemia due to" EXACT []
synonym: "UMPH1 Deficiency" EXACT []
xref: MESH:C564859
xref: RDO:0013679
is_a: DOID:589 ! congenital hemolytic anemia

[Term]
id: DOID:9004821
name: Fibrous Sheath Dysplasia
xref: RDO:9000727
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:9004822
name: Hypertrichosis Congenital Generalized X-Linked
alt_id: MIM:307150
alt_id: RDO:0004364
synonym: "CGH" EXACT []
synonym: "CHROMOSOME Xq27.1 INTERCHROMOSOMAL INSERTION SYNDROME" EXACT []
synonym: "congenital generalized hypertrichosis" BROAD []
synonym: "HCG" EXACT []
synonym: "HTC2" EXACT []
synonym: "Macias-Flores Garcia-Cruz Rivera syndrome" EXACT []
xref: MESH:C538388
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:420 ! hypertrichosis

[Term]
id: DOID:9004823
name: Brown Oculocutaneous Albinism
xref: MESH:C562662
xref: RDO:0012278
is_a: DOID:0050632 ! oculocutaneous albinism

[Term]
id: DOID:9004824
name: Pseudohypoparathyroidism Type II
alt_id: MIM:203330
alt_id: RDO:0004657
synonym: "PHP2" EXACT []
synonym: "PHP II" EXACT []
synonym: "Pseudohypoparathyroidism Type 2" EXACT []
xref: MESH:C548077
is_a: DOID:4184 ! pseudohypoparathyroidism

[Term]
id: DOID:9004825
name: Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
alt_id: MIM:602613
xref: MESH:C566514
is_a: DOID:0080006 ! bone development disease
is_a: DOID:331 ! central nervous system disease
is_a: DOID:9002955 ! Nerve Degeneration

[Term]
id: DOID:9004826
name: Benign Familial Macrocephaly
alt_id: MIM:153470
synonym: "Benign familial megalencephaly" EXACT []
synonym: "Cole-Hughes syndrome" EXACT []
xref: MESH:C537717
is_a: DOID:9003816 ! Macrocephaly

[Term]
id: DOID:9004827
name: Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts
alt_id: MIM:600176
synonym: "Kuzniecky Syndrome" EXACT []
synonym: "pachygyria, mental retardation and epilepsy" EXACT []
synonym: "pachygyria with impaired intellectual development, seizures, and arachnoid cysts" EXACT []
synonym: "pachygyria with mental retardation and seizures" EXACT []
xref: MESH:C538091
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9007612 ! Arachnoid Cysts

[Term]
id: DOID:9004828
name: Tooth Migration
def: "The movement of teeth into altered positions in relationship to the basal bone of the ALVEOLAR PROCESS and to adjoining and opposing teeth as a result of loss of approximating or opposing teeth, occlusal interferences, habits, inflammatory and dystrophic disease of the attaching and supporting structures of the teeth. (From Boucher's Clinical Dental Terminology, 4th ed)" [MESH:D014085]
synonym: "Tooth Drift" EXACT []
synonym: "Tooth Drifting" EXACT []
xref: MESH:D014085
is_a: DOID:3388 ! periodontal disease

[Term]
id: DOID:9004829
name: Skin/Hair/Eye Pigmentation, Variation In, 6
alt_id: MIM:210750
synonym: "SHEP6" EXACT []
synonym: "Skin-Hair-Eye Pigmentation 6, Blond-Brown Hair" EXACT []
synonym: "Skin-Hair-Eye Pigmentation 6, Blue-Green Eyes" EXACT []
xref: MESH:C567139
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9004830
name: NEUROCARDIOFACIODIGITAL SYNDROME
def: "This disease is characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with a supernumerary hypoplastic digit between the fourth and fifth digits of the hands and/or feet. Other features include eye abnormalities, hearing impairment, and electroencephalogram anomalies." [MIM:619869]
synonym: "NCFD" EXACT []
xref: MIM:619869
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2022-06-28T10:14:58Z

[Term]
id: DOID:9004831
name: Colitis-Associated Neoplasms
def: "Colonic neoplasms associated with chronic inflammation conditions such as ULCERATIVE COLITIS and CROHN DISEASE. (MESH)" []
synonym: "Colitis-Associated Cancer" EXACT []
synonym: "Colitis-Associated Colon Cancer" EXACT []
synonym: "Colitis-Associated Colorectal Cancer" EXACT []
synonym: "Dysplasia in Ulcerative Colitis" RELATED []
xref: EFO:1000226
xref: MESH:D000083023
is_a: DOID:9002928 ! Colonic Neoplasms
created_by: mtutaj
creation_date: 2020-12-22T09:51:29Z

[Term]
id: DOID:9004832
name: Congenital Hypomyelinating Neuropathy 2
def: "An autosomal dominant neurologic disorder characterized by early-onset hypotonia, severely delayed motor development, muscle weakness with areflexia, and severely decreased nerve conduction velocities (NCV) resulting from improper myelination of axons." [MIM:618184]
synonym: "CHN2" EXACT []
xref: MIM:618184
is_a: DOID:9001527 ! Congenital Hypomyelinating Neuropathy
created_by: slaulede
creation_date: 2019-01-11T14:00:38Z

[Term]
id: DOID:9004833
name: Kleiner Holmes Syndrome
alt_id: MIM:234280
synonym: "Hallux varus and preaxial polysyndactyly" EXACT []
xref: MESH:C536885
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9002707 ! Hallux Varus
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004835
name: Immunodeficiency 75
synonym: "IMD75" EXACT []
synonym: "Immunodeficiency-75 with lymphoproliferation" EXACT []
synonym: "TET2-RELATED CONDITION" BROAD []
xref: MIM:619126
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2020-12-31T09:15:47Z

[Term]
id: DOID:9004836
name: CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:9000552 ! Cap Myopathy
created_by: rgd
creation_date: 2016-02-09T00:00:00Z

[Term]
id: DOID:9004838
name: Oocyte/Zygote/Embryo Maturation Arrest 11
def: "Characterized by reduced or absent fertility and poor embryonic outcomes with assisted reproductive technology. Caused by homozygous mutation in the ASTL gene on chromosome 2q11." [MIM:619643]
synonym: "Oocyte Maturation Defect 11" EXACT []
synonym: "OOMD11" EXACT []
synonym: "OZEMA11" EXACT []
xref: MIM:619643
is_a: DOID:9007456 ! Female Infertility
created_by: mtutaj
creation_date: 2021-12-07T16:43:51Z

[Term]
id: DOID:9004839
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
def: "An autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet. (OMIM)" []
synonym: "IDDGIP" EXACT []
synonym: "PPM1D-RELATED CONDITION" BROAD []
xref: MIM:617450
xref: RDO:9001709
is_a: DOID:1059 ! intellectual disability
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9000641 ! Pain
is_a: DOID:9008482 ! Congenital Pain Insensitivity
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9004841
name: Dwarfism, Levi Type
alt_id: MIM:127100
synonym: "Snub-Nosed Type of Dwarfism" EXACT []
xref: MESH:C565081
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9004842
name: Periodontal Attachment Loss
def: "Loss or destruction of periodontal tissue caused by periodontitis or other destructive periodontal diseases or by injury during instrumentation. Attachment refers to the periodontal ligament which attaches to the alveolar bone. It has been hypothesized that treatment of the underlying periodontal disease and the seeding of periodontal ligament cells enable the creating of new attachment." [MESH:D017622]
xref: MESH:D017622
xref: RDO:0007063
is_a: DOID:9005858 ! Periodontal Atrophy

[Term]
id: DOID:9004843
name: Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1
def: "HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal. Familial horizontal gaze palsy with progressive scoliosis-1 (HGPPS1) is caused by homozygous or compound heterozygous mutation in the ROBO3 gene on chromosome 11q24. (OMIM)" []
synonym: "HGPPS1" EXACT []
xref: MIM:607313
is_a: DOID:9004787 ! Familial Horizontal Gaze Palsy with Progressive Scoliosis
created_by: mtutaj
creation_date: 2019-03-26T14:20:32Z

[Term]
id: DOID:9004844
name: Feingold Syndrome 1
synonym: "FGLDS1" EXACT []
synonym: "MYCN-RELATED CONDITION" EXACT []
xref: MIM:164280
is_a: DOID:0060464 ! Feingold syndrome

[Term]
id: DOID:9004846
name: Craniosynostosis Mental Retardation Clefting Syndrome
alt_id: MIM:218650
xref: MESH:C565663
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:674 ! cleft palate
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9004847
name: Pseudoaminopterin Syndrome
alt_id: MIM:600325
synonym: "Aminopterin syndrome sine aminopterin" EXACT []
xref: MESH:C535823
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004850
name: Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness
alt_id: MIM:609057
synonym: "EBS7" EXACT []
synonym: "nephropathy with pretibial epidermolysis bullosa and deafness" EXACT []
xref: MESH:C563798
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:4644 ! epidermolysis bullosa simplex
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9004851
name: Severe Acute Malnutrition
def: "Acute form of MALNUTRITION which usually affects children, characterized by a very low weight for height (below -3z scores of the median World Health Organization standards), visible severe wasting, or occurrence of nutritional EDEMA. It can be a direct or indirect cause of fatality in children suffering from DIARRHEA and PNEUMONIA. Do not confuse with starvation, a condition in which the body is not getting enough food, usually for extended periods of time." [MESH:D000067011]
xref: MESH:D000067011
is_a: DOID:9005695 ! Malnutrition

[Term]
id: DOID:9004852
name: Sinoatrial Node Dysfunction and Deafness
synonym: "CACNA1D-RELATED CONDITION" BROAD []
synonym: "CACNA1D-RELATED DISORDER" BROAD []
synonym: "SANDD" EXACT []
xref: MIM:614896
xref: RDO:9001074
is_a: DOID:9007001 ! Bradycardia
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9004853
name: Myopia 6
alt_id: MIM:608908
synonym: "Myopia, susceptibility to" EXACT []
synonym: "MYP6" EXACT []
xref: MESH:C536105
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9004854
name: Herpes Zoster Ophthalmicus
def: "Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve." [MESH:D006563]
synonym: "Ocular Herpes Zoster" EXACT []
synonym: "ophthalmic herpes zoster" EXACT []
xref: EFO:0007403
xref: MESH:D006563
is_a: DOID:8536 ! herpes zoster
is_a: DOID:9005295 ! Viral Eye Infections

[Term]
id: DOID:9004855
name: Simosa Cranio Facial Syndrome
alt_id: MIM:182150
synonym: "Simosa craniofacial syndrome" EXACT []
xref: MESH:C537339
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004856
name: Ethanolaminosis
alt_id: MIM:227150
synonym: "Ethanolamine Kinase Deficiency" EXACT []
xref: MESH:C562651
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9003936 ! Cardiomegaly
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9005627 ! Metabolic Brain Diseases

[Term]
id: DOID:9004857
name: Pyruvate Dehydrogenase E1-Beta Deficiency
alt_id: MIM:614111
synonym: "PDHBD" EXACT []
xref: MESH:C566729
is_a: DOID:3649 ! pyruvate decarboxylase deficiency

[Term]
id: DOID:9004858
name: Progressive Nephropathy with Deafness
alt_id: MIM:609469
synonym: "Alport Focal Segmental Glomerulosclerosis-Like Syndrome" EXACT []
synonym: "NEDE" EXACT []
xref: MESH:C563713
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10983 ! Alport syndrome
is_a: DOID:783 ! end stage renal disease

[Term]
id: DOID:9004859
name: Dermoodontodysplasia
alt_id: MIM:125640
xref: MESH:C565103
is_a: DOID:421 ! hair disease
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9004860
name: Penttinen-Aula Syndrome
alt_id: MIM:601812
synonym: "PENTT" EXACT []
synonym: "Penttinen syndrome" EXACT []
synonym: "premature aging syndrome Penttinen type" EXACT []
xref: MESH:C536653
is_a: DOID:225 ! syndrome
is_a: DOID:3911 ! progeria
is_a: DOID:9001402 ! Acro-Osteolysis
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9004863
name: Van Bogaert-Hozay Syndrome
alt_id: MIM:277150
synonym: "Acro-osteolysis-facial dysplasia syndrome" EXACT []
synonym: "Hozay's syndrome" EXACT []
xref: MESH:C536526
is_a: DOID:0060260 ! ptosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:540 ! strabismus
is_a: DOID:9001402 ! Acro-Osteolysis
is_a: DOID:9004069 ! Pathologic Decalcification
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004864
name: Isodicentric Chromosome 15 Syndrome
synonym: "Duplication-Inversion 15q11" EXACT []
synonym: "Idic(15)" EXACT []
synonym: "Inv Dup(15)" EXACT []
synonym: "Inverted Duplication 15" EXACT []
synonym: "Isodicentric Chromosome 15" EXACT []
synonym: "Non-Distal Tetrasomy 15q" EXACT []
xref: MESH:C580205
xref: RDO:0015902
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9004865
name: Nuchal Cord
def: "A complication of pregnancy in which the UMBILICAL CORD wraps around the fetal neck once or multiple times. In some cases, cord entanglement around fetal neck may not affect pregnancy outcome significantly. In others, the nuchal cord may lead to restricted fetal blood flow, oxygen transport, fetal development, fetal movement, and complicated delivery at birth." [MESH:D053589]
synonym: "Double Nuchal Cord" EXACT []
synonym: "Fetal Cord Entanglement" EXACT []
synonym: "Fetal Cord Entanglements" EXACT []
synonym: "Quadruple Nuchal Cord" EXACT []
synonym: "Single Nuchal Cord" EXACT []
synonym: "Triple Nuchal Cord" EXACT []
xref: MESH:D053589
is_a: DOID:9001984 ! Fetal Diseases
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9004866
name: Ataxia
def: "Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions." [MESH:D001259]
synonym: "Appendicular Ataxia" EXACT []
synonym: "Appendicular Ataxias" EXACT []
synonym: "Ataxias" EXACT []
synonym: "Ataxy" EXACT []
synonym: "Coordination Impairment" EXACT []
synonym: "Coordination Impairments" EXACT []
synonym: "Coordination Lack" EXACT []
synonym: "Dyscoordination" EXACT []
synonym: "Dyssynergia" EXACT []
synonym: "Incoordination" EXACT []
synonym: "Incoordinations" EXACT []
synonym: "Lack of Coordination" EXACT []
synonym: "Limb Ataxia" EXACT []
synonym: "Limb Ataxias" EXACT []
synonym: "Motor Ataxia" EXACT []
synonym: "Motor Ataxias" EXACT []
synonym: "Rubral Tremor" EXACT []
synonym: "Rubral Tremors" EXACT []
synonym: "Sensory Ataxia" EXACT []
synonym: "Sensory Ataxias" EXACT []
synonym: "Truncal Ataxia" EXACT []
synonym: "Truncal Ataxias" EXACT []
xref: MESH:D001259
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9004867
name: Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism
alt_id: MIM:268020
xref: MESH:C564841
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1924 ! hypogonadism
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9004868
name: Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities
def: "An autosomal dominant neurodevelopmental disorder." [MIM:618430]
synonym: "DDVIBA" EXACT []
synonym: "TCF20-RELATED CONDITION" EXACT []
xref: EFO:0010644
xref: MIM:618430
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2019-07-05T10:02:22Z

[Term]
id: DOID:9004869
name: Anemia Due To Adenosine Triphosphatase Deficiency
alt_id: MIM:102800
xref: MESH:C566311
is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia

[Term]
id: DOID:9004870
name: Mengel Konigsmark Syndrome
synonym: "Conductive hearing loss and malformed low-set ears" EXACT []
synonym: "Ear deformity and conductive hearing loss" EXACT []
synonym: "Familial congenital moderate neural hearing loss" EXACT []
xref: MESH:C537239
xref: RDO:0003031
is_a: DOID:225 ! syndrome
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9004871
name: Mercury Poisoning, Nervous System
def: "Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)" [MESH:D020262]
synonym: "Inorganic Mercury Poisoning" EXACT []
synonym: "Mad Hatter's Disease" EXACT []
synonym: "Mad Hatter Disease" EXACT []
synonym: "Mad Hatter Diseases" EXACT []
synonym: "Mad Hatters Disease" EXACT []
synonym: "Mercurial Neuroanesthenia" EXACT []
synonym: "Mercurial Psychosis" EXACT []
synonym: "Mercury Encephalopathy" EXACT []
synonym: "Mercury Induced Nervous System Diseases" EXACT []
synonym: "Mercury Neurotoxicity Syndrome" EXACT []
synonym: "Mercury Neurotoxicity Syndromes" EXACT []
synonym: "Mercury Psychosis" EXACT []
synonym: "Minamata Disease" EXACT []
synonym: "Nervous System Mercurialism" EXACT []
synonym: "Neurologic Mercurialism" EXACT []
synonym: "Neurologic Mercury Poisoning" EXACT []
synonym: "Organic Mercury Poisoning" EXACT []
xref: MESH:D020262
xref: RDO:0004718
is_a: DOID:9001363 ! Heavy Metal Poisoning, Nervous System
is_a: DOID:9003709 ! Mercury Poisoning

[Term]
id: DOID:9004872
name: Congenital Infantile Lactic Acidosis
alt_id: RDO:0004070
synonym: "CONGENITAL LACTIC ACIDOSIS" EXACT []
xref: MESH:C538134
is_a: DOID:3650 ! lactic acidosis

[Term]
id: DOID:9004873
name: Mushroom Poisoning
def: "Poisoning from ingestion of mushrooms, primarily from, but not restricted to, toxic varieties." [MESH:D009145]
synonym: "Mushroom Poisonings" EXACT []
xref: MESH:D009145
is_a: DOID:9002606 ! Mycotoxicosis
is_a: DOID:9006436 ! Foodborne Diseases

[Term]
id: DOID:9004874
name: Dermal Fibrosis
def: "A pathological condition where fibrous connective tissue invades the skin, usually as a consequence of inflammation or other injury." []
xref: RDO:9000104
is_a: DOID:37 ! skin disease
is_a: DOID:9000784 ! Fibrosis

[Term]
id: DOID:9004876
name: Multinodular Goiter 3
alt_id: MIM:606082
synonym: "MNG3" EXACT []
xref: MESH:C565260
is_a: DOID:0050489 ! multinodular goiter

[Term]
id: DOID:9004877
name: Autosomal Dominant Tubulointerstitial Kidney Disease 5
synonym: "ADTKD5" EXACT []
synonym: "familial juvenile hyperuricemic nephropathy 4" EXACT []
synonym: "HNFJ4" EXACT []
xref: MIM:617056
is_a: DOID:0060062 ! familial juvenile hyperuricemic nephropathy

[Term]
id: DOID:9004878
name: L-Ferritin Deficiency
synonym: "L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE" NARROW []
synonym: "LFTD" EXACT []
xref: MIM:615604
is_a: DOID:2351 ! iron metabolism disease

[Term]
id: DOID:9004879
name: Mediastinal Fibrosis
synonym: "Fibrosing mediastinitis" EXACT []
synonym: "Idiopathic mediastinal fibrosis" EXACT []
synonym: "Sclerosing mediastinitis" EXACT []
xref: MESH:C536136
is_a: DOID:819 ! mediastinitis
is_a: DOID:9007896 ! Sclerosis

[Term]
id: DOID:9004880
name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
synonym: "CAGSSS" EXACT []
xref: MIM:616007
is_a: DOID:0050548 ! hereditary sensory neuropathy
is_a: DOID:0060870 ! isolated growth hormone deficiency
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:83 ! cataract

[Term]
id: DOID:9004881
name: Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy
synonym: "IDDSAPN" EXACT []
xref: MIM:619099
is_a: DOID:1059 ! intellectual disability
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9005466 ! Language Development Disorders
created_by: mtutaj
creation_date: 2020-11-23T16:02:38Z

[Term]
id: DOID:9004882
name: Waaler Aarskog Syndrome
xref: MESH:C536461
xref: RDO:0002053
is_a: DOID:0060249 ! scoliosis
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9004883
name: Pilonidal Sinus
alt_id: MIM:173000
alt_id: OMIA:000272
def: "A hair-containing cyst or sinus, occurring chiefly in the coccygeal region." [MESH:D010864]
synonym: "Dermoid sinus" NARROW []
synonym: "pilonidal cyst" EXACT []
synonym: "pilonidal cysts" EXACT []
xref: MESH:D010864
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9004884
name: Esophageal Cyst
def: "Any fluid-filled closed cavity or sac (CYSTS) that is lined by an EPITHELIUM and found in the ESOPHAGUS region." [MESH:D004934]
synonym: "Esophageal Cysts" EXACT []
xref: MESH:D004934
xref: RDO:0005537
is_a: DOID:6050 ! esophageal disease
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9004885
name: Familial Azotemia
alt_id: MIM:109160
xref: MESH:C566233
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:9004886
name: Tumor Virus Infections
def: "Infections produced by oncogenic viruses. The infections caused by DNA viruses are less numerous but more diverse than those caused by the RNA oncogenic viruses." [MESH:D014412]
synonym: "Shope Fibroma" EXACT []
synonym: "Shope Papilloma" EXACT []
synonym: "Tumor Virus Infection" EXACT []
xref: MESH:D014412
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9004887
name: Annular Epidermolytic Ichthyosis 1
def: "A disease characterized by the development of widespread erythematous blistering in the neonatal period or early childhood that subsides over time. Caused by heterozygous mutation in the keratin-10 gene (KRT10)." [MIM:607602]
synonym: "AEI1" EXACT []
synonym: "CIEHK1" EXACT []
xref: MIM:607602
is_a: DOID:9005778 ! Annular Epidermolytic Ichthyosis

[Term]
id: DOID:9004888
name: Parietal Foramina 1
alt_id: MIM:168500
synonym: "PFM1" EXACT []
xref: MESH:C566827
is_a: DOID:0060285 ! parietal foramina

[Term]
id: DOID:9004889
name: Cerebral Ventriculitis
def: "Inflammation of CEREBRAL VENTRICLES." [MESH:D058565]
synonym: "Cerebral Ventriculitides" EXACT []
synonym: "Infectious Ventriculitides" EXACT []
synonym: "Infectious Ventriculitis" EXACT []
xref: MESH:D058565
is_a: DOID:9003736 ! Central Nervous System Viral Diseases
is_a: DOID:9588 ! encephalitis

[Term]
id: DOID:9004890
name: Paranoid Disorders
def: "Chronic mental disorders in which there has been an insidious development of a permanent and unshakeable delusional system (persecutory delusions or delusions of jealousy), accompanied by preservation of clear and orderly thinking. Emotional responses and behavior are consistent with the delusional state." [MESH:D010259]
synonym: "Paranoia" EXACT []
synonym: "Paranoias" EXACT []
synonym: "Paranoid Disorder" EXACT []
synonym: "Paranoid Psychoses" EXACT []
xref: MESH:D010259
xref: RDO:0006285
is_a: DOID:9000439 ! Schizophrenia Spectrum and Other Psychotic Disorders

[Term]
id: DOID:9004891
name: Spranger Schinzel Myers Syndrome
synonym: "Arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digits" EXACT []
synonym: "Cerebroarthrodigital syndrome" EXACT []
xref: MESH:C535801
is_a: DOID:0080006 ! bone development disease
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9004892
name: Familial Acanthosis Nigricans
xref: MESH:C531598
xref: RDO:0000009
is_a: DOID:3138 ! acanthosis nigricans

[Term]
id: DOID:9004893
name: Head and Neck Paraganglioma
def: "This is a benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." [NCI:C5327]
synonym: "craniocervical region paragangliom" EXACT []
synonym: "HNP" EXACT []
synonym: "HNPGL" EXACT []
xref: EFO:1000288
is_a: DOID:0050773 ! paraganglioma
created_by: slaulede
creation_date: 2023-02-03T17:21:38Z

[Term]
id: DOID:9004894
name: Lethal Muscular Hypertonia
alt_id: MIM:254120
xref: MESH:C564982
is_a: DOID:9008941 ! Muscle Hypertonia

[Term]
id: DOID:9004895
name: Chromosome 14, Trisomy Mosaic
synonym: "Trisomy 14 mosaic" EXACT []
synonym: "Trisomy 14 mosaicism" EXACT []
synonym: "Trisomy 14 mosaicism syndrome" EXACT []
xref: MESH:C535489
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9004896
name: Primary Lateral Sclerosis Juvenile
alt_id: MIM:606353
synonym: "PLSJ" EXACT []
synonym: "PLS, JUVENILE" EXACT []
xref: MESH:C536416
xref: RDO:0002002
is_a: DOID:231 ! motor neuron disease

[Term]
id: DOID:9004897
name: X-Linked Tetra-Amelia
xref: MESH:C536497
xref: RDO:0002099
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9000545 ! Ectromelia

[Term]
id: DOID:9004898
name: Jaundice
def: "A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction." [MESH:D007565]
synonym: "Hemolytic Jaundice" EXACT []
synonym: "Hemolytic Jaundices" EXACT []
synonym: "Icterus" EXACT []
xref: MESH:D007565
is_a: DOID:2741 ! bilirubin metabolic disorder
is_a: DOID:9007472 ! Skin Manifestations

[Term]
id: DOID:9004899
name: Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss
synonym: "Axenfeld-Rieger anomaly with atrial septal defect and sensorineural hearing loss" EXACT []
xref: MESH:C537789
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:14686 ! Axenfeld-Rieger syndrome
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004900
name: Mesomelic Dwarfism Reinhardt Pfeiffer Type
alt_id: MIM:191400
synonym: "hypoplasia of ulna and fibula" EXACT []
synonym: "mesomelic dwarfism of hypoplastic ulna and fibula type" EXACT []
synonym: "Reinhardt-Pfeiffer mesomelic dysplasia" EXACT []
synonym: "Reinhardt-Pfeiffer mesomelic skeletal dysplasia" EXACT []
synonym: "Reinhardt Pfeiffer syndrome" EXACT []
xref: MESH:C537349
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9009006 ! Mesomelic Dysplasia

[Term]
id: DOID:9004901
name: INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
synonym: "Impaired intellectual development, anterior maxillary protrusion, and strabismus" EXACT []
synonym: "MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS" EXACT []
synonym: "MRAMS" EXACT []
xref: MIM:613671
is_a: DOID:1059 ! intellectual disability
is_a: DOID:540 ! strabismus
is_a: DOID:9000066 ! Jaw Abnormalities

[Term]
id: DOID:9004902
name: Poultry Diseases
def: "Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from BIRD DISEASES which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild." [MESH:D011201]
synonym: "Poultry Disease" EXACT []
xref: MESH:D011201
is_a: DOID:9006114 ! Bird Diseases

[Term]
id: DOID:9004903
name: Focal Cortical Dysplasia of Taylor, Type IIA
synonym: "CDTD" EXACT []
synonym: "Cortical Dysplasia of Taylor, Dysplasia Only" EXACT []
synonym: "Cortical Dysplasia of Taylor without Balloon Cells" EXACT []
synonym: "FCD2A" EXACT []
synonym: "FCD IIA" EXACT []
synonym: "FCORD2A" EXACT []
synonym: "FOCAL CORTICAL DYSPLASIA, TYPE IIA" EXACT []
xref: MESH:C564583
is_a: DOID:9008426 ! Focal Cortical Dysplasia of Taylor

[Term]
id: DOID:9004904
name: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES
xref: MIM:615789
xref: RDO:9001278
is_a: DOID:10907 ! microcephaly
is_a: DOID:9001487 ! Facies
is_a: DOID:9007661 ! Dwarfism
created_by: rgd
creation_date: 2016-10-18T00:00:00Z

[Term]
id: DOID:9004905
name: Lethal Congenital Neutropenia with Eosinophilia
alt_id: MIM:257100
xref: MESH:C564943
is_a: DOID:1227 ! neutropenia
is_a: DOID:9001371 ! Eosinophilia

[Term]
id: DOID:9004906
name: Congenital Bone Marrow Failure Syndromes
def: "Inherited syndromes characterized by deficiency or absence of various blood cells due to mutations that affect HEMATOPOIETIC STEM CELLS development and proliferation. (MESH)" []
synonym: "CBMFS" EXACT []
synonym: "IBMFS" EXACT []
synonym: "Inherited BMF Syndromes" EXACT []
synonym: "inherited bone marrow failure syndrome" EXACT []
synonym: "Inherited Bone Marrow Failure Syndromes" EXACT []
xref: MESH:D000080984
is_a: DOID:225 ! syndrome
is_a: DOID:9007222 ! Bone Marrow Failure Disorders
created_by: mtutaj
creation_date: 2020-01-30T11:46:28Z

[Term]
id: DOID:9004907
name: Metaphyseal Chondrodysplasia, Spahr Type
alt_id: MIM:250400
synonym: "MDST" EXACT []
synonym: "METAPHYSEAL DYSPLASIA, SPAHR TYPE" EXACT []
synonym: "MMP13-RELATED CONDITION" BROAD []
xref: MESH:C537353
is_a: DOID:9000073 ! Metaphyseal Chondrodysplasia

[Term]
id: DOID:9004908
name: Optic Atrophy 16
def: "An autosomal recessive disorder characterized by a Leber hereditary optic neuropathy (LHON)-like isolated optic neuropathy and mild sensorineural hearing impairment. Caused by homozygous mutation in the MECR gene on chromosome 1p35." [MIM:620629]
synonym: "OPA16" EXACT []
xref: MIM:620629
is_a: DOID:9005850 ! Hereditary Optic Atrophies
created_by: tutajm
creation_date: 2023-12-04T12:48:02Z

[Term]
id: DOID:9004909
name: Immunodeficiency 80
synonym: "IMD80" EXACT []
synonym: "immunodeficiency-80 with or without congenital cardiomyopathy" EXACT []
synonym: "MCM10 deficiency" EXACT []
xref: MIM:619313
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2021-05-12T15:10:31Z

[Term]
id: DOID:9004910
name: Hereditary Macular Coloboma
synonym: "agenesis of macula" EXACT []
synonym: "coloboma of macula" EXACT []
synonym: "macular coloboma" EXACT []
xref: MESH:C535968
is_a: DOID:12270 ! coloboma

[Term]
id: DOID:9004911
name: Thymus Hyperplasia
def: "Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)" [MESH:D013952]
synonym: "Hyperplasia of Thymus Gland" EXACT []
synonym: "Thymic Hyperplasia" EXACT []
synonym: "Thymic Hyperplasias" EXACT []
synonym: "Thymus Gland Hyperplasia" EXACT []
synonym: "Thymus Gland Hyperplasias" EXACT []
xref: EFO:1001860
xref: MESH:D013952
is_a: DOID:533 ! thymus gland disease

[Term]
id: DOID:9004912
name: Hyperoxaluria
def: "Excretion of an excessive amount of OXALATES in the urine." [MESH:D006959]
synonym: "oxalosis" EXACT []
synonym: "oxaluria" EXACT []
xref: MESH:D006959
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9004913
name: ACCES Syndrome
synonym: "ACCES" EXACT []
synonym: "aplasia cutis congenita with ectrodactyly skeletal syndrome" EXACT []
xref: MIM:619959
is_a: DOID:2121 ! ectodermal dysplasia
created_by: mtutaj
creation_date: 2022-08-29T11:24:54Z

[Term]
id: DOID:9004914
name: Postmenopausal Osteoporosis
alt_id: RDO:0006911
def: "Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." [MESH:D015663]
synonym: "perimenopausal bone loss" EXACT []
synonym: "perimenopausal bone losses" EXACT []
synonym: "Postmenopausal Bone Loss" EXACT []
synonym: "Postmenopausal Bone Losses" EXACT []
synonym: "Post-Menopausal Osteoporoses" EXACT []
synonym: "postmenopausal osteoporoses" EXACT []
synonym: "post-menopausal osteoporosis" EXACT []
xref: EFO:0003854
xref: MESH:D015663
is_a: DOID:11476 ! osteoporosis

[Term]
id: DOID:9004915
name: Decreased Urinary Activity of Kallikrein
alt_id: MIM:615953
xref: MESH:C563653
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9004916
name: Morton Neuroma
def: "A nerve inflammation in the foot caused by chronic compression of the plantar nerve between the METATARSAL BONES." [MESH:D000070607]
synonym: "Intermetatarsal Neuroma" EXACT []
synonym: "Intermetatarsal Neuromas" EXACT []
synonym: "Morton's Disease" EXACT []
synonym: "Morton's Metatarsalgia" EXACT []
synonym: "Morton's Neuralgia" EXACT []
synonym: "Morton's Neuroma" EXACT []
synonym: "Morton Disease" EXACT []
synonym: "Morton Metatarsalgia" EXACT []
synonym: "Morton Neuralgia" EXACT []
synonym: "Mortons Disease" EXACT []
synonym: "Mortons Metatarsalgia" EXACT []
synonym: "Mortons Neuralgia" EXACT []
synonym: "Mortons Neuroma" EXACT []
xref: EFO:0010582
xref: MESH:D000070607
is_a: DOID:9005968 ! Neuralgia
is_a: DOID:9008541 ! Metatarsalgia

[Term]
id: DOID:9004917
name: White Muscle Disease
def: "A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (FABACEAE), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)" [MESH:D014912]
synonym: "White Muscle Diseases" EXACT []
xref: MESH:D014912
xref: RDO:0006826
is_a: DOID:9000887 ! Muscular Dystrophy, Animal

[Term]
id: DOID:9004918
name: Menstruation Disturbances
def: "Variations of menstruation which may be indicative of disease." [MESH:D008599]
synonym: "Hypomenorrhea" EXACT []
synonym: "Hypomenorrheas" EXACT []
synonym: "Menstruation Disorder" EXACT []
synonym: "Menstruation Disorders" EXACT []
synonym: "Menstruation Disturbance" EXACT []
synonym: "Polymenorrhea" EXACT []
synonym: "Polymenorrheas" EXACT []
synonym: "Retrograde Menstruation" EXACT []
synonym: "Retrograde Menstruations" EXACT []
xref: MESH:D008599
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9004919
name: Perinatal Lethal Hypophosphatasia
xref: MESH:C567107
is_a: DOID:14213 ! hypophosphatasia

[Term]
id: DOID:9004920
name: Porokeratosis, Disseminated Superficial Actinic, 3
alt_id: MIM:612293
def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. POROK5 maps to chromosome 1p31. (OMIM)" []
synonym: "DSAP3" EXACT []
synonym: "POROK5" EXACT []
synonym: "POROKERATOSIS 5, DISSEMINATED SUPERFICIAL ACTINIC TYPE" EXACT []
xref: MESH:C567356
is_a: DOID:3805 ! porokeratosis

[Term]
id: DOID:9004921
name: Schisis Association
synonym: "Midline development field defects" EXACT []
xref: GARD:246
xref: MESH:C536633
xref: MONDO:0018976
xref: ORDO:63862
is_a: DOID:9006534 ! Nervous System Malformations

[Term]
id: DOID:9004922
name: Spinal Cord Ischemia
def: "Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue." [MESH:D020760]
synonym: "Experimental Spinal Cord Ischemia" EXACT []
synonym: "Ischemic Myelopathies" EXACT []
synonym: "Ischemic Myelopathy" EXACT []
synonym: "Spinal Cord Ischemias" EXACT []
xref: EFO:1001426
xref: MESH:D020760
xref: RDO:0003675
is_a: DOID:9006308 ! Spinal Cord Vascular Diseases

[Term]
id: DOID:9004923
name: Delpire-McNeill Syndrome
def: "A neurodevelopmental disorder with highly variable manifestations. Patients present in infancy with global developmental delay, including motor, speech, and impaired intellectual development. (OMIM)" []
synonym: "DELMNES" EXACT []
xref: MIM:619083
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2020-11-10T14:13:36Z

[Term]
id: DOID:9004924
name: Combined Pituitary Hormone Deficiency 3
synonym: "combined pituitary hormone deficiency with rigid cervical spine" EXACT []
synonym: "CPHD3" EXACT []
synonym: "LHX3-RELATED CONDITION" EXACT []
synonym: "Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome" EXACT []
synonym: "Sensorineural deafness with Pituitary dwarfism" EXACT []
synonym: "Winkelman-Bethge-Pfeiffer syndrome" EXACT []
xref: GARD:10603
xref: MESH:C536710
xref: MIM:221750
xref: MONDO:0009091
xref: ORDO:231720
is_a: DOID:0060870 ! isolated growth hormone deficiency
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9410 ! panhypopituitarism

[Term]
id: DOID:9004925
name: Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport
alt_id: MIM:251945
xref: MESH:C565376
is_a: DOID:699 ! mitochondrial myopathy

[Term]
id: DOID:9004926
name: Chromosome 22, Microdeletion 22 q11
synonym: "Microdeletion 22 q11" EXACT []
xref: MESH:C536797
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9004927
name: Stomatocytosis II
xref: MESH:C566110
xref: RDO:0014567
is_a: DOID:589 ! congenital hemolytic anemia
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9006795 ! Acid-Base Imbalance

[Term]
id: DOID:9004928
name: Chromosome 7, Monosomy
synonym: "Monosomy 7" EXACT []
xref: MESH:C537814
xref: RDO:0003718
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9004929
name: Congenital Hypodysfibrinogenemia
alt_id: RDO:0014466
synonym: "fibrinogen Baltimore 2" RELATED []
synonym: "FIBRINOGEN CHRISTCHURCH 2" RELATED []
synonym: "FIBRINOGEN HAIFA 1" RELATED []
synonym: "FIBRINOGEN LONGMONT" RELATED []
synonym: "FIBRINOGEN NIJMEGEN" RELATED []
synonym: "fibrinogen Philadelphia" RELATED []
synonym: "FIBRINOGEN ROUEN 1" RELATED []
synonym: "FIBRINOGEN TOKYO 2" RELATED []
synonym: "Hypodysfibrinogenemia" EXACT []
xref: MESH:C565970
is_a: DOID:9003464 ! Congenital Dysfibrinogenemia

[Term]
id: DOID:9004930
name: Spinal Muscular Atrophy, Facioscapulohumeral Type
alt_id: MIM:182970
synonym: "FSHSMA" EXACT []
xref: MESH:C566674
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:9004931
name: Coagulation Protein Disorders
alt_id: DOID:2212
def: "Hemorrhagic and thrombotic disorders resulting from abnormalities or deficiencies of coagulation proteins." [MESH:D020147]
synonym: "blood coagulation factor deficiencies" EXACT []
synonym: "coagulation protein disease" EXACT []
synonym: "Coagulation Protein Disorder" EXACT []
synonym: "Coagulation Protein Disorders" EXACT []
synonym: "coagulation proteins disorder" EXACT []
xref: MESH:D020147
is_a: DOID:1247 ! blood coagulation disease
created_by: mtutaj
creation_date: 2020-07-24T07:59:08Z

[Term]
id: DOID:9004932
name: Eales Disease
synonym: "Idiopathic obliterative vasculopathy" EXACT []
synonym: "Idiopathic recurrent vitreal hemorrhage" EXACT []
xref: MESH:C538011
xref: RDO:0003941
is_a: DOID:11563 ! retinal vasculitis
is_a: DOID:9003204 ! Neovascularization, Pathologic

[Term]
id: DOID:9004933
name: Idiopathic Basal Ganglia Calcification 5
alt_id: RDO:9000962
synonym: "IBGC5" EXACT []
xref: MIM:615483
is_a: DOID:0060230 ! basal ganglia calcification

[Term]
id: DOID:9004934
name: BILATERAL CLEFT LIP
def: "A non-midline cleft of the upper lip on the left and right side." [HP:0100336]
synonym: "Bilateral cheiloschisis" EXACT []
synonym: "Both sided cleft lip" EXACT []
synonym: "Right and left cleft lip" EXACT []
is_a: DOID:9296 ! cleft lip
created_by: slaulede
creation_date: 2020-07-06T14:43:48Z

[Term]
id: DOID:9004935
name: Thiourea Tasting
synonym: "PHENYLTHIOCARBAMIDE TASTING" NARROW []
synonym: "PROP TASTING" NARROW []
synonym: "PROPYLTHIOURACIL TASTING" NARROW []
synonym: "PTC TASTING" NARROW []
xref: MIM:171200
is_a: DOID:9001661 ! Taste Disorders

[Term]
id: DOID:9004937
name: Aldred Syndrome
synonym: "nonspecific mental retardation associated with retinitis pigmentosa" EXACT []
synonym: "X-linked mental handicap-retinitis pigmentosa syndrome" EXACT []
xref: MESH:C537046
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:225 ! syndrome
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9004938
name: Eye Hemorrhage
def: "Intraocular hemorrhage from the vessels of various tissues of the eye." [MESH:D005130]
synonym: "Eye Hemorrhages" EXACT []
synonym: "Hemophthalmos" EXACT []
xref: EFO:0008627
xref: MESH:D005130
is_a: DOID:5614 ! eye disease
is_a: DOID:9001020 ! Eye Manifestations
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9004939
name: Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency
synonym: "Leigh syndrome due to pyruvate carboxylase deficiency" EXACT []
xref: MESH:C536255
is_a: DOID:3651 ! pyruvate carboxylase deficiency disease
is_a: DOID:3652 ! Leigh disease

[Term]
id: DOID:9004940
name: Akesson Syndrome
alt_id: MIM:304200
synonym: "Cutis verticis gyrata, thyroaplasia and mental deficiency syndrome" EXACT []
synonym: "Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation" EXACT []
synonym: "Cutis verticis gyrata-thyroid aplasia-mental retardation syndrome" EXACT []
xref: MESH:C535610
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:3136 ! scalp dermatosis
is_a: DOID:50 ! thyroid gland disease

[Term]
id: DOID:9004941
name: Nonsyndromic Holoprosencephaly
synonym: "Isolated Holoprosencephaly" EXACT []
synonym: "Isolated Hpe" EXACT []
synonym: "Nonsyndromic Hpe" EXACT []
synonym: "Non-Syndromic, Non-Chromosomal Holoprosencephaly" EXACT []
synonym: "Non-Syndromic, Non-Chromosomal Hpe" EXACT []
xref: MESH:C580335
xref: RDO:0015913
is_a: DOID:4621 ! holoprosencephaly

[Term]
id: DOID:9004942
name: Niemann-Pick Disease, Intermediate, Protracted Neurovisceral
xref: MESH:C567268
is_a: DOID:0070111 ! Niemann-Pick disease type A

[Term]
id: DOID:9004943
name: Chromosome 10, Trisomy 10pter p13
synonym: "Duplication 10pter p13" EXACT []
synonym: "Trisomy 10pter p13" EXACT []
xref: MESH:C538291
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9004944
name: Tachycardia, Sinoatrial Nodal Reentry
def: "Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval." [MESH:D013615]
synonym: "Sinus Node Reentrant Tachycardia" EXACT []
synonym: "Tachycardia, SA Nodal Reentrant" EXACT []
xref: EFO:1001843
xref: MESH:D013615
is_a: DOID:9007178 ! Reciprocating Tachycardia

[Term]
id: DOID:9004945
name: Ocular Toxoplasmosis
def: "Infection caused by the protozoan parasite TOXOPLASMA in which there is extensive connective tissue proliferation, the retina surrounding the lesions remains normal, and the ocular media remain clear. Chorioretinitis may be associated with all forms of toxoplasmosis, but is usually a late sequel of congenital toxoplasmosis. The severe ocular lesions in infants may lead to blindness." [MESH:D014126]
synonym: "ocular toxoplasmoses" EXACT []
xref: EFO:0007399
xref: MESH:D014126
is_a: DOID:9004432 ! Parasitic Eye Infections
is_a: DOID:9965 ! toxoplasmosis

[Term]
id: DOID:9004946
name: Leptin Receptor Deficiency
def: "Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction. LEPRD is caused by homozygous mutation in the LEPR gene on chromosome 1p31." [MIM:614963]
synonym: "LEPR-RELATED CONDITION" EXACT []
synonym: "LEPR-RELATED DISORDERS" EXACT []
synonym: "Morbid Obesity, Nonsyndromic 2" EXACT []
xref: MIM:614963
is_a: DOID:11981 ! morbid obesity
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9004947
name: hippocampal atrophy
def: "This is a decrease in the size of the hippocampus as a result of some external stress or disease." [EFO:0005039]
synonym: "atrophy of hippocampus" EXACT []
xref: EFO:0005039
is_a: DOID:9004462 ! Atrophy
is_a: DOID:936 ! brain disease
created_by: slaulede
creation_date: 2023-01-19T10:43:26Z

[Term]
id: DOID:9004948
name: Glaucoma and Sleep Apnea
alt_id: MIM:137763
xref: MESH:C564232
is_a: DOID:0050847 ! sleep apnea
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:9004949
name: Merlob Grunebaum Reisner Syndrome
xref: MESH:C537461
is_a: DOID:225 ! syndrome
is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital

[Term]
id: DOID:9004950
name: Panic Disorder with Bladder Conditions
xref: MESH:C566834
is_a: DOID:365 ! bladder disease
is_a: DOID:594 ! panic disorder

[Term]
id: DOID:9004951
name: breast pleomorphic carcinoma
def: "This is a rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." [NCI:C5161]
synonym: "Anaplastic Breast Carcinoma" EXACT []
synonym: "pleomorphic breast carcinoma" EXACT []
xref: EFO:1000047
xref: EFO:1000482
xref: NCI:C5161
is_a: DOID:3008 ! invasive ductal carcinoma
created_by: slaulede
creation_date: 2022-10-06T09:59:36Z

[Term]
id: DOID:9004952
name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES
def: "This is a disease characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay." [MIM:619239]
synonym: "CUL3-RELATED CONDITION" BROAD []
synonym: "CUL3-RELATED DISORDER" BROAD []
synonym: "NEDAUS" EXACT []
xref: MIM:619239
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2022-02-11T17:43:42Z

[Term]
id: DOID:9004953
name: Diabetic Cystopathy
synonym: "diabetic bladder" EXACT []
synonym: "diabetic bladder dysfunction" EXACT []
is_a: DOID:365 ! bladder disease
is_a: DOID:9002661 ! Diabetes Complications
created_by: rgd
creation_date: 2015-07-14T00:00:00Z

[Term]
id: DOID:9004954
name: Neutrophil Actin Dysfunction
xref: MESH:C564942
xref: MIM:257150
xref: MONDO:0009755
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9004955
name: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate
alt_id: MIM:615465
synonym: "Hartsfield Syndrome" EXACT []
synonym: "HRTFDS" EXACT []
xref: MESH:C564484
is_a: DOID:1059 ! intellectual disability
is_a: DOID:4621 ! holoprosencephaly
is_a: DOID:674 ! cleft palate
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9004934 ! BILATERAL CLEFT LIP

[Term]
id: DOID:9004956
name: Nocturnal Enuresis
alt_id: MIM:600631
def: "Involuntary discharge of URINE during sleep at night after expected age of completed development of urinary control." [MESH:D053206]
synonym: "Bedwetting" EXACT []
synonym: "ENUR1" EXACT []
synonym: "ENURESIS, NOCTURNAL, 1" EXACT []
synonym: "Nighttime Urinary Incontinence" EXACT []
xref: MESH:D053206
xref: RDO:0007612
is_a: DOID:9008268 ! Enuresis

[Term]
id: DOID:9004957
name: Porokeratosis, Disseminated Superficial Actinic, 4
alt_id: MIM:607728
def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members as well as individuals expressing more than one variant have been reported, suggesting that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. POROK4 maps to chromosome 15q25-q26. (OMIM)" []
synonym: "disseminated superficial actinic porokeratosis 2" EXACT []
synonym: "DSAP2" EXACT []
synonym: "DSAP4" EXACT []
synonym: "POROK4" EXACT []
synonym: "POROKERATOSIS 4, DISSEMINATED SUPERFICIAL ACTINIC TYPE" EXACT []
synonym: "type 2 punctate PPK" EXACT []
xref: MESH:C567339
is_a: DOID:3805 ! porokeratosis

[Term]
id: DOID:9004958
name: Idiopathic Generalized Epilepsy 16
synonym: "EIG16" EXACT []
synonym: "idiopathic generalized epilepsy, susceptibility to, 16" EXACT []
xref: MIM:618596
is_a: DOID:1827 ! idiopathic generalized epilepsy
created_by: mtutaj
creation_date: 2019-09-27T08:50:30Z

[Term]
id: DOID:9004959
name: African Degenerative Visceral Leiomyopathy
def: "A distinctive visceral myopathy with onset in childhood. It presents as intestinal pseudoobstruction with a massive megacolon due to degeneration of smooth muscle without aganglionosis. (OMIM)" []
synonym: "ADL" EXACT []
xref: MIM:619400
is_a: DOID:0080072 ! intestinal pseudo-obstruction
created_by: mtutaj
creation_date: 2021-07-16T15:53:40Z

[Term]
id: DOID:9004960
name: Chronic Anterior Uveitis
def: "A course of anterior uveitis lasting more than a few months." []
is_a: DOID:1407 ! anterior uveitis

[Term]
id: DOID:9004962
name: Capsule Opacification
def: "Clouding or loss of transparency of the posterior lens capsule, usually following CATARACT extraction." [MESH:D058442]
synonym: "Capsule Opacifications" EXACT []
synonym: "Secondary Cataract" EXACT []
synonym: "Secondary Cataracts" EXACT []
xref: MESH:D058442
is_a: DOID:83 ! cataract

[Term]
id: DOID:9004963
name: Hematemesis
def: "Vomiting of blood that is either fresh bright red, or older 'coffee-ground' in character. It generally indicates bleeding of the UPPER GASTROINTESTINAL TRACT." [MESH:D006396]
synonym: "Hematemeses" EXACT []
xref: MESH:D006396
is_a: DOID:9008385 ! Vomiting
is_a: DOID:9008975 ! Gastrointestinal Hemorrhage

[Term]
id: DOID:9004964
name: Referred Pain
def: "A type of pain that is perceived in an area away from the site where the pain arises, such as facial pain caused by lesion of the VAGUS NERVE, or throat problem generating referred pain in the ear." [MESH:D053591]
synonym: "Referred Facial Pain" EXACT []
xref: MESH:D053591
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9004965
name: opiate withdrawal syndrome
def: "This disorder is defined by signs and symptoms related to abrupt or gradual stoppage of opiate use. The signs and symptoms include strong cravings, sweating, nausea, vomiting, irritation, anxiety, muscle pain, dilated pupils and insomnia." [NCI:C98998]
synonym: "heroin withdrawal syndrome" NARROW []
synonym: "narcotic withdrawal syndrome" EXACT []
synonym: "opiate withdrawal disorder" EXACT []
synonym: "opioid withdrawal syndrome" EXACT []
is_a: DOID:0060001 ! withdrawal disorder
is_a: DOID:9004719 ! Narcotic-Related Disorders
created_by: slaulederkind
creation_date: 2024-02-27T16:46:48Z

[Term]
id: DOID:9004966
name: Complex Cortical Dysplasia with Other Brain Malformations 12
def: "This disease is an autosomal recessive disorder of developmental neuronal migration characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features. Caused by homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34." [MIM:620316]
synonym: "CAMSAP1-RELATED NEURONAL MIGRATION DISORDER" EXACT []
synonym: "CDCBM12" EXACT []
synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12" EXACT []
xref: MIM:620316
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
created_by: mtutaj
creation_date: 2023-04-10T08:59:42Z

[Term]
id: DOID:9004967
name: IGHM Protein, Human
synonym: "BOT heavy chain disease protein, human" EXACT []
synonym: "immunoglobulin heavy constant mu protein, human" EXACT []
xref: MESH:C041229
xref: RDO:0000004
is_a: DOID:0060125 ! heavy chain disease

[Term]
id: DOID:9004968
name: Yin Deficiency
def: "In the YIN-YANG system of philosophy and medicine, an insufficiency of body fluid (called yinxu), manifesting often as irritability, thirst, constipation, etc. (The Pinyin Chinese-English Dictionary, 1979)." [MESH:D016710]
synonym: "Yin Deficiencies" EXACT []
synonym: "Yin Hsu" EXACT []
synonym: "Yin Xu" EXACT []
synonym: "Yinxu" EXACT []
xref: MESH:D016710
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9004969
name: Neoplasm Recurrence, Local
def: "The local recurrence of a neoplasm following treatment. It arises from microscopic cells of the original neoplasm that have escaped therapeutic intervention and later become clinically visible at the original site." [MESH:D009364]
synonym: "Local Neoplasm Recurrences" EXACT []
synonym: "Locoregional Neoplasm Recurrence" EXACT []
synonym: "Locoregional Neoplasm Recurrences" EXACT []
xref: MESH:D009364
xref: RDO:0006193
is_a: DOID:9008192 ! Neoplastic Processes

[Term]
id: DOID:9004970
name: Distal Renal Tubular Acidosis 1
synonym: "autosomal dominant distal renal tubular acidosis" EXACT []
synonym: "autosomal dominant renal tubular acidosis" EXACT []
synonym: "classic distal renal tubular acidosis" EXACT []
synonym: "classic type RTA" EXACT []
synonym: "distal renal tubular acidosis, dominant" EXACT []
synonym: "distal type RTA, autosomal dominant" EXACT []
synonym: "Gradient Type RTA" EXACT []
synonym: "renal tubular acidosis 1" EXACT []
synonym: "renal tubular acidosis I" EXACT []
synonym: "type I renal tubular acidosis" EXACT []
xref: MIM:179800
is_a: DOID:9007406 ! Distal Renal Tubular Acidosis
created_by: mtutaj
creation_date: 2020-08-31T19:43:11Z

[Term]
id: DOID:9004971
name: Right Ventricle Hypoplasia
alt_id: MIM:277200
synonym: "hypoplasia of the right ventricle" EXACT []
synonym: "Isolated hypoplasia of the right ventricle" EXACT []
synonym: "Isolated right ventricular hypoplasia" EXACT []
synonym: "right ventricular hypoplasia" EXACT []
xref: MESH:C535682
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9004973
name: Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction
alt_id: MIM:601389
synonym: "Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction" EXACT []
synonym: "Cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction" EXACT []
xref: MESH:C538072
is_a: DOID:10488 ! imperforate anus
is_a: DOID:12577 ! urethral obstruction
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9004974
name: Painful Neuropathy
alt_id: MIM:256870
xref: MESH:C564945
is_a: DOID:870 ! neuropathy
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9004975
name: Sacral Agenesis with Vertebral Anomalies
synonym: "SAVA" EXACT []
xref: MIM:615709
xref: RDO:9001035
is_a: DOID:630 ! genetic disease
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9004976
name: Peters Anomaly with Cataract
xref: MESH:C537885
is_a: DOID:1686 ! glaucoma
is_a: DOID:83 ! cataract

[Term]
id: DOID:9004977
name: Coxoauricular Syndrome
alt_id: MIM:122780
xref: MESH:C565148
is_a: DOID:225 ! syndrome
is_a: DOID:9005560 ! Congenital Hip Dislocation
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9004978
name: Preaxial Polydactyly I
def: "Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. Preaxial polydactyly I (PPD1), 'thumb polydactyly,' involves duplication of 1 or more of the skeletal components of a biphalangeal thumb. Severity varies from mere broadening of the distal phalanx with slight bifurcation at the tip to full duplication of the thumb including the metacarpals. This type is the most frequent form of polydactyly in many populations. PPD1 is caused by homozygous mutation in the GLI1 gene on chromosome 12q13. (OMIM)" []
synonym: "Fromont Anomaly" NARROW []
synonym: "PPD1" EXACT []
synonym: "preaxial polydactyly type 1" EXACT []
synonym: "THENAR HYPOPLASIA" BROAD []
synonym: "Thumb polydactyly" EXACT []
xref: MESH:C536332
xref: MIM:174400
is_a: DOID:9005329 ! Preaxial Polydactyly

[Term]
id: DOID:9004979
name: Knee Dislocation
def: "Slippage of the FEMUR off the TIBIA." [MESH:D031221]
synonym: "congenital knee dislocation" RELATED []
synonym: "Knee Dislocations" EXACT []
xref: MESH:D031221
xref: MONDO:0017470
is_a: DOID:9003279 ! Joint Dislocations
is_a: DOID:9008290 ! Knee Injuries

[Term]
id: DOID:9004980
name: Chronobiology Disorders
def: "Disruptions of the rhythmic cycle of bodily functions or activities." [MESH:D021081]
synonym: "Biological Clock Disturbance" EXACT []
synonym: "Biological Clock Disturbances" EXACT []
synonym: "Chronobiology Disorder" EXACT []
synonym: "Circadian Dysregulation" EXACT []
synonym: "Circadian Rhythm Disorder" EXACT []
synonym: "Circadian Rhythm Disorders" EXACT []
synonym: "Psychogenic Inversion of Circadian Rhythm" EXACT []
xref: MESH:D021081
xref: RDO:0007327
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:9004981
name: Kantaputra Gorlin Syndrome
synonym: "MDK" EXACT []
synonym: "Mesomelic dysplasia, Kantaputra type" EXACT []
synonym: "Mesomelic dysplasia, Thai type" EXACT []
synonym: "Mesomelic dysplasia with ankle, carpal, and tarsal synostosis" EXACT []
synonym: "MMDK" EXACT []
xref: MESH:C535547
xref: MIM:156232
xref: MONDO:0007977
is_a: DOID:225 ! syndrome
is_a: DOID:9003938 ! Foot Deformities
is_a: DOID:9009006 ! Mesomelic Dysplasia

[Term]
id: DOID:9004982
name: X-Linked Vesicoureteral Reflux
alt_id: MIM:314550
synonym: "VURX" EXACT []
xref: MESH:C564042
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9620 ! vesicoureteral reflux

[Term]
id: DOID:9004983
name: Fetal Inflammatory Response Syndrome
def: "A condition characterized by systemic inflammation and an elevation of fetal plasma interleukin-6. (PMID:17762416)" []
synonym: "chorioamnionitis-induced fetal inflammatory response syndrome" EXACT []
synonym: "chorioamnionitis-induced FIRS" EXACT []
synonym: "fetal sepsis-induced fetal inflammatory response syndrome" EXACT []
synonym: "FIRS" EXACT []
synonym: "FIRS fetal inflammatory response syndrome" EXACT []
synonym: "lipopolysaccharide-induced fetal inflammatory response syndrome" EXACT []
synonym: "LPS-induced fetal inflammatory response syndrome" EXACT []
synonym: "LPS-induced FIRS" EXACT []
synonym: "sepsis-induced fetal inflammatory response syndrome" EXACT []
synonym: "sepsis-induced FIRS" EXACT []
xref: MESH:C000719624
is_a: DOID:225 ! syndrome
is_a: DOID:9000169 ! Systemic Inflammatory Response Syndrome
is_a: DOID:9001984 ! Fetal Diseases
created_by: rgd
creation_date: 2017-03-13T00:00:00Z

[Term]
id: DOID:9004984
name: Uterine Prolapse
def: "Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice." [MESH:D014596]
synonym: "Uterine Prolapses" EXACT []
synonym: "Vaginal Prolapse" EXACT []
synonym: "Vaginal Prolapses" EXACT []
xref: EFO:1001864
xref: MESH:D014596
is_a: DOID:345 ! uterine disease
is_a: DOID:9008409 ! Pelvic Organ Prolapse

[Term]
id: DOID:9004985
name: Animal Diseases
def: "Diseases that occur in VERTEBRATE animals." [MESH:D000820]
subset: RGD_JBrowse_slim
xref: EFO:0005932
xref: MESH:D000820
is_a: DOID:4 ! disease

[Term]
id: DOID:9004986
name: Ackerman Syndrome
alt_id: MIM:200970
synonym: "juvenile glaucoma with unusual upper lip and dental roots" EXACT []
synonym: "pyramidal molar roots with juvenile glaucoma and unusual upper lip" EXACT []
synonym: "pyramidal molars, glaucoma, abnormal upper lip" EXACT []
xref: MESH:C538170
is_a: DOID:1686 ! glaucoma
is_a: DOID:225 ! syndrome
is_a: DOID:9004563 ! Maxillofacial Abnormalities
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9004987
name: Neuroticism
xref: MESH:C564323
is_a: DOID:2030 ! anxiety disorder

[Term]
id: DOID:9004988
name: Uterine Adenosarcoma
alt_id: RDO:0004185
synonym: "adenosarcoma of the uterus" EXACT []
synonym: "Mullerian adenosarcoma of the uterus" EXACT []
xref: MESH:C538232
is_a: DOID:1974 ! adenosarcoma
is_a: DOID:9004268 ! Uterine Neoplasms

[Term]
id: DOID:9004989
name: Protein Deficiency
def: "A nutritional condition produced by a deficiency of proteins in the diet, characterized by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (From Merck Manual, 16th ed; Harrison's Principles of Internal Medicine, 12th ed, p406)" [MESH:D011488]
synonym: "Protein Deficiencies" EXACT []
xref: MESH:D011488
is_a: DOID:5113 ! nutritional deficiency disease

[Term]
id: DOID:9004990
name: Rodent Diseases
def: "Diseases of rodents of the order RODENTIA. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs)." [MESH:D012376]
synonym: "Rodent Disease" EXACT []
xref: MESH:D012376
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9004992
name: Apnea
def: "A transient absence of spontaneous respiration." [MESH:D001049]
synonym: "Apneas" EXACT []
xref: MESH:D001049
xref: RDO:0001052
is_a: DOID:9000575 ! Respiratory Signs and Symptoms
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:9004994
name: Embryo Loss
def: "Early pregnancy loss during the EMBRYO, MAMMALIAN stage of development. In the human, this period comprises the second through eighth week after fertilization." [MESH:D020964]
synonym: "blastocyst disintegration" EXACT []
synonym: "disintegration of blastocyst" EXACT []
synonym: "Disintegration of Embryo" EXACT []
synonym: "Embryo Death" EXACT []
synonym: "Embryo Deaths" EXACT []
synonym: "Embryo Disintegration" EXACT []
synonym: "embryo resorption" EXACT []
synonym: "preimplantation embryonic lethality" EXACT []
synonym: "PREMBL" EXACT []
xref: MESH:D020964
is_a: DOID:9000543 ! Death
is_a: DOID:9003281 ! Spontaneous Abortions

[Term]
id: DOID:9004995
name: Baker Vinters Syndrome
synonym: "Hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies" EXACT []
xref: MESH:C537899
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9004996
name: Infantile-Onset Limb and Orofacial Dyskinesia
def: "An autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking. (OMIM)" []
synonym: "IOLOD" EXACT []
xref: MIM:616921
is_a: DOID:9002362 ! Hyperkinesis
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9004997
name: Pediatric Adrenocortical Carcinoma
alt_id: RDO:0014469
xref: MESH:C565973
is_a: DOID:3948 ! adrenocortical carcinoma

[Term]
id: DOID:9004998
name: Kyphoscoliosis
alt_id: MIM:610170
def: "A deformity of growth resulting in backward and lateral curvature of the spine." []
synonym: "kyphoscoliosis 1" EXACT []
synonym: "kyphoscoliosis deformity of spine" EXACT []
synonym: "KYPSC1" EXACT []
xref: MESH:C565711
is_a: DOID:0060249 ! scoliosis
is_a: DOID:4667 ! kyphosis
created_by: rgd
creation_date: 2016-07-28T00:00:00Z

[Term]
id: DOID:9004999
name: APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS
is_a: DOID:0080006 ! bone development disease
created_by: slaulede
creation_date: 2020-01-07T12:45:07Z

[Term]
id: DOID:9005000
name: Gallbladder Disease 4
alt_id: MIM:611465
synonym: "ABCG8-RELATED CONDITION" BROAD []
synonym: "GBD4" EXACT []
xref: MESH:C566936
is_a: DOID:0060262 ! gallbladder disease

[Term]
id: DOID:9005001
name: Congenital Neuromuscular Disease, with Uniform Type 1 Fiber
alt_id: RDO:0015310
synonym: "CNMDU1" EXACT []
xref: MESH:C567162
is_a: DOID:3529 ! congenital myopathy 1A

[Term]
id: DOID:9005002
name: Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction
alt_id: MIM:601075
xref: MESH:C563394
is_a: DOID:11830 ! myopia
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9000343 ! Vision Disorders
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:9005003
name: Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density
alt_id: MIM:601376
xref: MESH:C563330
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9005004
name: Musculoskeletal Abnormalities
def: "Congenital structural abnormalities and deformities of the musculoskeletal system." [MESH:D009139]
synonym: "Musculoskeletal Abnormality" EXACT []
xref: MESH:D009139
is_a: DOID:17 ! musculoskeletal system disease
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9005005
name: Oral Ulcer
def: "A loss of mucous substance of the mouth showing local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. It is the result of a variety of causes, e.g., denture irritation, aphthous stomatitis (STOMATITIS, APHTHOUS); NOMA; necrotizing gingivitis (GINGIVITIS, NECROTIZING ULCERATIVE); TOOTHBRUSHING; and various irritants. (From Jablonski, Dictionary of Dentistry, 1992, p842)" [MESH:D019226]
synonym: "Mouth Ulcer" EXACT []
synonym: "Mouth Ulcers" EXACT []
synonym: "Oral Ulcers" EXACT []
xref: MESH:D019226
is_a: DOID:403 ! mouth disease
is_a: DOID:9005175 ! Ulcer
is_a: DOID:9663 ! aphthous stomatitis

[Term]
id: DOID:9005006
name: Melanoma-Pancreatic Cancer Syndrome
alt_id: MIM:606719
synonym: "Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome" EXACT []
synonym: "FAMMMPC" EXACT []
synonym: "FAMMMPC Syndrome" EXACT []
xref: MESH:C563985
is_a: DOID:1793 ! pancreatic cancer
is_a: DOID:1909 ! melanoma
is_a: DOID:225 ! syndrome
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:9005007
name: Thyroxine-Binding Globulin Deficiency
alt_id: RDO:0013142
synonym: "THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE" NARROW []
synonym: "THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL" NARROW []
xref: MESH:C564049
is_a: DOID:0050735 ! X-linked monogenic disease

[Term]
id: DOID:9005009
name: Thrombocytopenia 6
def: "An autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. (OMIM)" []
synonym: "autosomal dominant thrombocytopenia-6" EXACT []
synonym: "THC6" EXACT []
xref: MIM:616937
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:9005010
name: Partial Lissencephaly
synonym: "Focal agyria pachygyria" EXACT []
synonym: "Incomplete lissencephaly" EXACT []
xref: MESH:C536298
is_a: DOID:0050453 ! lissencephaly

[Term]
id: DOID:9005013
name: Calcific Pancreatitis
synonym: "calcific chronic pancreatitis" EXACT []
synonym: "chronic calcifying pancreatitis" EXACT []
xref: MESH:C566837
is_a: DOID:9006190 ! Chronic Pancreatitis

[Term]
id: DOID:9005015
name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES
def: "A disease characterized by impaired intellectual development or developmental delay, behavioral abnormalities including autistic features, and language impairment." [MIM:618917]
synonym: "NEDLIB" EXACT []
xref: MIM:618917
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005466 ! Language Development Disorders
created_by: slaulede
creation_date: 2020-11-09T17:52:55Z

[Term]
id: DOID:9005016
name: Hunter Carpenter Macdonald Syndrome
xref: MESH:C536071
is_a: DOID:225 ! syndrome
is_a: DOID:2367 ! neuroaxonal dystrophy

[Term]
id: DOID:9005017
name: Hereditary Angioedema 4
def: "An autosomal dominant disorder characterized by episodic subcutaneous or submucosal edema with onset usually in adulthood. Caused by heterozygous mutation in the PLG gene on chromosome 6q26. (OMIM)" []
synonym: "HAE4" EXACT []
synonym: "PLG-RELATED CONDITION" BROAD []
xref: MIM:619360
is_a: DOID:14735 ! hereditary angioedema
created_by: mtutaj
creation_date: 2021-06-11T12:04:57Z

[Term]
id: DOID:9005018
name: Peroxisome Biogenesis Disorder, Complementation Group J
xref: MESH:C563965
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9005019
name: JABERI-ELAHI SYNDROME
def: "An autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. (OMIM)" []
synonym: "JABELS" EXACT []
xref: MIM:617988
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2018-06-19T12:49:04Z

[Term]
id: DOID:9005020
name: Brain Contusion
def: "A bruise of the brain from an impact of the skull." [MESH:D000070624]
synonym: "Brain Contusions" EXACT []
synonym: "Cerebellar Contusion" EXACT []
synonym: "Cerebellar Contusions" EXACT []
synonym: "Cerebral Contusion" EXACT []
synonym: "Cerebral Contusions" EXACT []
synonym: "Contusio Cerebri" EXACT []
synonym: "Cortical Contusion" EXACT []
synonym: "Cortical Contusions" EXACT []
xref: MESH:D000070624
is_a: DOID:0081292 ! traumatic brain injury
is_a: DOID:9005166 ! Contusions

[Term]
id: DOID:9005021
name: Verloes Van Maldergem Marneffe Syndrome
alt_id: MIM:157151
synonym: "Dominantly inherited bone dysplasia with severe eye involvement" EXACT []
synonym: "Microspherophakia-metaphyseal dysplasia" EXACT []
xref: MESH:C536540
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9005022
name: Multiple Exostoses Type III
alt_id: MIM:600209
alt_id: RDO:0013086
synonym: "EXT3" EXACT []
synonym: "hereditary multiple exostoses 3" EXACT []
xref: MESH:C563975
is_a: DOID:206 ! hereditary multiple exostoses

[Term]
id: DOID:9005023
name: Hereditary Sclerosing Poikiloderma
alt_id: MIM:173700
xref: MESH:C562824
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9007896 ! Sclerosis

[Term]
id: DOID:9005024
name: Hereditary Adrenocortical Carcinoma
alt_id: MIM:202300
alt_id: RDO:0014468
synonym: "ADCC" EXACT []
synonym: "ADRENOCORTICAL CARCINOMA, PEDIATRIC" NARROW []
xref: MESH:C565972
is_a: DOID:3948 ! adrenocortical carcinoma

[Term]
id: DOID:9005025
name: Isolated Microphthalmia with Coloboma 2
alt_id: MIM:605738
synonym: "MCOPCB2" EXACT []
synonym: "Microphthalmia, Colobomatous, Isolated 2" EXACT []
xref: MESH:C565300
is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma

[Term]
id: DOID:9005026
name: Foot Rot
def: "A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see DICHELOBACTER NODOSUS). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)" [MESH:D005535]
synonym: "Foot Rots" EXACT []
xref: MESH:D005535
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9005027
name: Waardenburg Syndrome Type 4
synonym: "Hirschsprung disease with pigmentary anomaly" EXACT []
synonym: "Shah-Waardenburg syndrome" EXACT []
synonym: "Waardenburg-Hirschsprung disease" EXACT []
synonym: "WS4" EXACT []
xref: MESH:C536467
xref: NCI:C124842
xref: ORDO:897
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:9258 ! Waardenburg syndrome

[Term]
id: DOID:9005028
name: Oocyte/Zygote/Embryo Maturation Arrest 7
synonym: "Oocyte Maturation Defect 7" EXACT []
synonym: "OOMD7" EXACT []
synonym: "OZEMA7" EXACT []
xref: MIM:618550
is_a: DOID:9007456 ! Female Infertility
created_by: mtutaj
creation_date: 2019-09-03T14:46:29Z

[Term]
id: DOID:9005029
name: Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate
alt_id: MIM:129810
xref: MESH:C565065
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9005030
name: Junctional Epidermolysis Bullosa 2B, Severe
synonym: "JEB2B" EXACT []
synonym: "Junctional Epidermolysis Bullosa 2B, Generalized Severe" EXACT []
synonym: "Junctional Epidermolysis Bullosa 2B, Herlitz Type" EXACT []
synonym: "severe junctional epidermolysis bullosa 2B" EXACT []
xref: MIM:619784
is_a: DOID:0060737 ! junctional epidermolysis bullosa Herlitz type
created_by: mtutaj
creation_date: 2022-06-07T11:41:32Z

[Term]
id: DOID:9005031
name: Liddle Syndrome 1
def: "An autosomal dominant disorder characterized by early-onset salt-sensitive hypertension, hypokalemia, metabolic alkalosis, and suppression of plasma renin activity and aldosterone secretion." []
synonym: "LIDLS1" EXACT []
synonym: "PSEUDOHYPERALDOSTERONISM" EXACT []
synonym: "PSEUDOPRIMARY HYPERALDOSTERONISM" EXACT []
xref: MIM:177200
is_a: DOID:0050477 ! Liddle syndrome
created_by: mtutaj
creation_date: 2019-03-19T00:00:00Z

[Term]
id: DOID:9005032
name: Olivopontocerebellar Atrophy 3
xref: MESH:C538631
xref: RDO:0004555
is_a: DOID:14784 ! olivopontocerebellar atrophy

[Term]
id: DOID:9005033
name: Leri Pleonosteosis
alt_id: MIM:151200
synonym: "CHROMOSOME 8q22.1 DUPLICATION SYNDROME" EXACT []
synonym: "Leri's pleonosteosis" EXACT []
synonym: "Leri pleonosteosis chromosome duplication syndrome" EXACT []
synonym: "Leri type pleonosteosis" EXACT []
xref: MESH:C537118
is_a: DOID:381 ! arthropathy
is_a: DOID:9001487 ! Facies
is_a: DOID:9003295 ! Heterotopic Ossification
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9005034
name: Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy
alt_id: MIM:182690
xref: MESH:C566682
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9005036
name: Bacteremia
alt_id: MIM:614382
alt_id: MIM:614383
def: "The presence of viable bacteria circulating in the blood. Fever, chills, tachycardia, and tachypnea are common acute manifestations of bacteremia. The majority of cases are seen in already hospitalized patients, most of whom have underlying diseases or procedures which render their bloodstreams susceptible to invasion." [MESH:D016470]
synonym: "Bacteremia, Resistance To" RELATED []
synonym: "Bacteremias" EXACT []
synonym: "bacteremia, susceptibility to, 1" RELATED []
synonym: "bacteremia, susceptibility to, 2" RELATED []
synonym: "bacteriemia" EXACT []
synonym: "BACTS1" EXACT []
synonym: "BACTS2" EXACT []
synonym: "non-typhoidal Salmonella bacteremia" NARROW []
xref: EFO:0003033
xref: EFO:0009087
xref: MESH:D016470
is_a: DOID:104 ! bacterial infectious disease
relationship: part_of DOID:0040085 ! bacterial sepsis

[Term]
id: DOID:9005037
name: Pituitary Dwarfism with Large Sella Turcica
alt_id: MIM:262710
xref: MESH:C562705
is_a: DOID:0060870 ! isolated growth hormone deficiency

[Term]
id: DOID:9005038
name: Pelvic Girdle Pain
def: "Discomfort associated with the bones that make up the pelvic girdle. It occurs frequently during pregnancy." [MESH:D059388]
synonym: "Pelvic Girdle Pains" EXACT []
synonym: "Symphysis Pubis Dysfunction" EXACT []
synonym: "Symphysis Pubis Dysfunctions" EXACT []
xref: MESH:D059388
xref: RDO:0010015
is_a: DOID:9005228 ! Musculoskeletal Pain
is_a: DOID:9008450 ! Pelvic Pain

[Term]
id: DOID:9005039
name: Fatal Fetal Cardiomyopathy due to Myocardial Calcification
alt_id: MIM:300829
synonym: "Myocardial calcifications resulting in intrauterine fetal death" EXACT []
xref: MESH:C543241
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:182 ! calcinosis
is_a: DOID:9001916 ! Fetal Death

[Term]
id: DOID:9005040
name: Hand Osteoarthritis
synonym: "Degenerative joint disease of hand" EXACT []
synonym: "Osteoarthritis - hand joint" EXACT []
synonym: "Osteoarthrosis of hand" EXACT []
xref: EFO:1000789
xref: RDO:9001106
is_a: DOID:8398 ! osteoarthritis
created_by: rgd
creation_date: 2015-06-17T00:00:00Z

[Term]
id: DOID:9005041
name: Isolated Microphthalmia with Coloboma 3
alt_id: MIM:610092
synonym: "MCOPCB3" EXACT []
synonym: "Microphthalmia, Colobomatous, Isolated 3" EXACT []
synonym: "MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 3  MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES" NARROW []
synonym: "VSX2-RELATED CONDITION" BROAD []
xref: MESH:C566447
is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma

[Term]
id: DOID:9005042
name: Familial Persistent Stuttering 3
synonym: "STUT3" EXACT []
xref: MIM:614655
xref: MONDO:0013841
is_a: DOID:0060243 ! stuttering

[Term]
id: DOID:9005043
name: Alpha-Mannosidosis, Type 3
def: "A severe form manifested as pregnancy loss or early death from progressive central nervous system involvement. (GARD)" []
is_a: DOID:3413 ! alpha-mannosidosis

[Term]
id: DOID:9005044
name: Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1
def: "An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. (OMIM)" []
synonym: "3-HYDROXYANTHRANILIC ACIDEMIA" EXACT []
synonym: "congenital NAD deficiency disorder 1" EXACT []
synonym: "VCRL1" EXACT []
xref: MIM:617660
is_a: DOID:9008119 ! Vertebral, Cardiac, Renal, and Limb Defects Syndromes
created_by: rgd
creation_date: 2017-12-01T00:00:00Z

[Term]
id: DOID:9005045
name: Ectodermal Dysplasia, Mental Retardation, Syndactyly
alt_id: MIM:600906
synonym: "Ectodermal dysplasia with mental retardation and syndactyly" EXACT []
xref: MESH:C538018
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11193 ! syndactyly
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:9005047
name: Hypercalciuria, Absorptive, 2
alt_id: MIM:143870
synonym: "ADCY10-RELATED CONDITION" EXACT []
synonym: "familial idiopathic hypercalciuria" EXACT []
synonym: "HCA2" EXACT []
synonym: "Hypercalciuria, absorptive, susceptibility to" RELATED []
xref: MESH:C562790
is_a: DOID:9001738 ! Hypercalciuria

[Term]
id: DOID:9005048
name: Cataract, Crystalline Coralliform
xref: MESH:C566161
xref: RDO:0014600
is_a: DOID:83 ! cataract

[Term]
id: DOID:9005049
name: Gastric Sneezing
synonym: "Stomach Sneeze Reflex" EXACT []
xref: MESH:C564990
xref: MIM:137130
is_a: DOID:9000133 ! Sneezing

[Term]
id: DOID:9005050
name: Tapetoretinal Degeneration with Ataxia
alt_id: MIM:272600
xref: MESH:C564788
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9005051
name: Monosomy 5p
xref: MESH:C538482
xref: ORDO:281
is_a: DOID:12580 ! Cri-du-Chat syndrome

[Term]
id: DOID:9005052
name: Accessory Deep Peroneal Nerve
alt_id: MIM:170980
xref: MESH:C536001
is_a: DOID:574 ! peripheral nervous system disease

[Term]
id: DOID:9005053
name: Hyperostosis Cranialis Interna
alt_id: MIM:144755
synonym: "SLC39A14-RELATED CONDITION" BROAD []
xref: MESH:C564168
is_a: DOID:205 ! hyperostosis
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:9005054
name: Hypertrophia Musculorum Vera
alt_id: MIM:145800
xref: MESH:C564152
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9000040 ! Hypertrophy

[Term]
id: DOID:9005055
name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects." [MIM:618922]
synonym: "NEDSHBA" EXACT []
xref: MIM:618922
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9006534 ! Nervous System Malformations
created_by: slaulede
creation_date: 2020-11-09T18:07:45Z

[Term]
id: DOID:9005056
name: Glucoglycinuria
alt_id: MIM:138070
xref: MESH:C562670
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9005057
name: Necrobiotic Disorders
def: "A group of disorders characterized by swelling, basophilia, and distortion of collagen bundles in the dermis." [MESH:D017441]
synonym: "Necrobioses" EXACT []
synonym: "Necrobiosis" EXACT []
synonym: "Necrobiotic Disorder" EXACT []
xref: MESH:D017441
is_a: DOID:37 ! skin disease
is_a: DOID:854 ! collagen disease

[Term]
id: DOID:9005058
name: Membranous Obstruction of Inferior Vena Cava
alt_id: RDO:0012475
xref: MESH:C563013
is_a: DOID:11512 ! Budd-Chiari syndrome

[Term]
id: DOID:9005059
name: Hypertelorism and Tetralogy of Fallot
alt_id: MIM:239711
xref: MESH:C538386
is_a: DOID:6419 ! tetralogy of Fallot
is_a: DOID:9003133 ! Hypertelorism

[Term]
id: DOID:9005061
name: Kaplowitz Bodurtha syndrome
synonym: "Congenital hypopituitarism and microphthalmia" EXACT []
synonym: "Hypopituitarism microphthalmia" EXACT []
xref: MESH:C536893
is_a: DOID:10629 ! microphthalmia
is_a: DOID:225 ! syndrome
is_a: DOID:9406 ! hypopituitarism

[Term]
id: DOID:9005062
name: Prostate Cancer, Hereditary, 1
synonym: "HPC1" EXACT []
synonym: "PRCA1" EXACT []
xref: MIM:601518
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9005063
name: HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1
alt_id: RDO:9001599
def: "A disorder characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development. (OMIM)" []
synonym: "HOMGSMR" RELATED []
synonym: "HOMGSMR1" EXACT []
synonym: "Hypomagnesemia, Seizures, and Mental Retardation 1" EXACT []
xref: MIM:616418
is_a: DOID:9002857 ! HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY

[Term]
id: DOID:9005064
name: Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist
xref: MESH:C564135
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9005065
name: Leukoplakia
def: "A white patch lesion found on a MUCOUS MEMBRANE that cannot be scraped off. Leukoplakia is generally considered a precancerous condition, however its appearance may also result from a variety of HEREDITARY DISEASES." [MESH:D007971]
synonym: "Leukokeratoses" EXACT []
synonym: "Leukokeratosis" EXACT []
synonym: "Leukoplakias" EXACT []
synonym: "Leukoplakic Lesion" EXACT []
synonym: "Leukoplakic Lesions" EXACT []
xref: MESH:D007971
is_a: DOID:0060071 ! pre-malignant neoplasm
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9005066
name: IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS
def: "This disease is an autosomal recessive immunologic disorder characterized by the onset of HPV-related common cutaneous warts in the first decade of life. The severity of the skin lesions appears to be related to the specific HPV subtype. Peripheral blood leukocytes and immunoglobulins are essentially normal, but antibody response to vaccination is variably decreased and there is impaired T-cell function, particularly of CD4+ T cells. The findings are consistent with an exclusive and specific impairment of T-cell adaptive immunity with increased susceptibility to alpha- and gamma-HPV." [MIM:620901]
synonym: "IMD123" EXACT []
xref: MIM:620901
is_a: DOID:612 ! primary immunodeficiency disease
relationship: has_component DOID:3178 ! skin papilloma
created_by: slaulederkind
creation_date: 2024-09-17T17:00:46Z

[Term]
id: DOID:9005069
name: Chromosome 1, q42 11 q42 12 Duplication
synonym: "Duplication 1q42 11 q42 12" EXACT []
synonym: "Trisomy 1q42 11 q42 12" EXACT []
xref: MESH:C538082
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9005070
name: Microscopic Polyangiitis
def: "A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls." [MESH:D055953]
synonym: "Microscopic Polyangiitides" EXACT []
xref: EFO:1000784
xref: MESH:D055953
is_a: DOID:9003819 ! Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis

[Term]
id: DOID:9005071
name: Kozlowski Brown Hardwick Syndrome
synonym: "unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus" EXACT []
xref: GARD:3136
xref: MESH:C537506
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005072
name: Synpolydactyly with Foot Anomalies
xref: MESH:C566095
xref: RDO:0014555
is_a: DOID:1148 ! polydactyly
is_a: DOID:9000067 ! Congenital Foot Deformities

[Term]
id: DOID:9005073
name: Thoracopelvic Dysostosis
alt_id: MIM:187770
xref: MESH:C566062
is_a: DOID:1934 ! dysostosis

[Term]
id: DOID:9005074
name: Dwarfism Stiff Joint Ocular Abnormalities
alt_id: MIM:127200
synonym: "Dwarfism with Stiff Joints and Ocular Abnormalities" EXACT []
synonym: "Moore-Federman syndrome" EXACT []
xref: MESH:C535724
is_a: DOID:381 ! arthropathy
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9005075
name: Spastic Paraplegia and Psychomotor Retardation with or without Seizures
def: "An autosomal recessive complex neurodevelopmental disorder with onset in infancy. Affected children show hypotonia followed by severely impaired global development and significant motor disability. (OMIM)" []
synonym: "SPPRS" EXACT []
xref: MIM:616756
xref: RDO:9001159
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2016-03-11T00:00:00Z

[Term]
id: DOID:9005076
name: Cardioauditory Syndrome of Sanchez Cascos
alt_id: MIM:212100
synonym: "Sanchez Cascos cardioauditory syndrome" EXACT []
xref: MESH:C535577
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9005077
name: Joint Instability
def: "Lack of stability of a joint or joint prosthesis." [MESH:D007593]
synonym: "joint hypermobilities" EXACT []
synonym: "Joint Hypermobility" EXACT []
synonym: "Joint Instabilities" EXACT []
synonym: "Joint Laxities" EXACT []
synonym: "joint laxity" EXACT []
xref: MESH:D007593
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:9005078
name: Congenital Macroglossia
alt_id: MIM:153630
synonym: "Enlarged tongue" EXACT []
synonym: "Giant tongue" EXACT []
xref: MESH:C531735
is_a: DOID:9007817 ! Macroglossia

[Term]
id: DOID:9005080
name: Ganglion Cysts
def: "Nodular tumor-like lesions or mucoid flesh, arising from tendon sheaths, LIGAMENTS, or JOINT CAPSULE, especially of the hands, wrists, or feet. They are not true cysts as they lack epithelial wall. They are distinguished from SYNOVIAL CYSTS by the lack of communication with a joint cavity or the SYNOVIAL MEMBRANE." [MESH:D045888]
synonym: "Ganglion" EXACT []
synonym: "Ganglion Cyst" EXACT []
synonym: "Ganglionic Cyst" EXACT []
synonym: "Ganglionic Cysts" EXACT []
synonym: "Ganglions" EXACT []
synonym: "Myxoid Cyst" EXACT []
synonym: "Myxoid Cysts" EXACT []
xref: MESH:D045888
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9005081
name: Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections
xref: MESH:C537163
is_a: DOID:150 ! disease of mental health
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9006844 ! Streptococcal Infections

[Term]
id: DOID:9005082
name: Periventricular Nodular Heterotopia 4
alt_id: MIM:300537
alt_id: RDO:0013438
synonym: "Periventricular heterotopia, Ehlers-Danlos variant" EXACT []
synonym: "PVNH4" EXACT []
xref: MESH:C564492
is_a: DOID:0050454 ! periventricular nodular heterotopia
is_a: DOID:0050735 ! X-linked monogenic disease

[Term]
id: DOID:9005084
name: Kniest Like Dysplasia Lethal
alt_id: MIM:245190
alt_id: RDO:0002997
synonym: "Arthrosis, flat face, hypotonia, short neck and macrocephaly" EXACT []
synonym: "lethal Kniest-like syndrome" EXACT []
xref: MESH:C537208
is_a: DOID:206 ! hereditary multiple exostoses
is_a: DOID:8488 ! polyhydramnios
is_a: DOID:9000613 ! Hyaline Membrane Disease
is_a: DOID:9003816 ! Macrocephaly

[Term]
id: DOID:9005085
name: Florid Papillomatosis of Nipple
alt_id: MIM:167950
synonym: "Florid papillomatosis of the nipple" EXACT []
xref: MESH:C537167
is_a: DOID:2615 ! papilloma
is_a: DOID:9008939 ! Breast Neoplasms

[Term]
id: DOID:9005086
name: Angiomatoid Fibrous Histiocytoma
alt_id: MIM:612160
xref: MESH:C563181
is_a: DOID:1907 ! malignant fibrous histiocytoma

[Term]
id: DOID:9005087
name: Oxyuriasis
def: "Infection with nematodes of the superfamily OXYUROIDEA." []
synonym: "aspiculariases" EXACT []
synonym: "aspiculariasis" EXACT []
synonym: "oxyuriases" EXACT []
xref: MESH:D010123
is_a: DOID:9003447 ! Oxyurida Infections

[Term]
id: DOID:9005088
name: Silengo Lerone Pelizza Syndrome
xref: MESH:C537336
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005089
name: Whyte Murphy Fallon Sly syndrome
xref: MESH:C536060
is_a: DOID:13533 ! osteopetrosis
is_a: DOID:14219 ! renal tubular acidosis
is_a: DOID:182 ! calcinosis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9005090
name: Post-Lyme Disease Syndrome
def: "A condition caused by long-lasting and ongoing infection with the spirochete Borrelia burgdorferi resulting in progressive inflammatory neurologic, neuromuscular, and dermatologic manifestations including ENCEPHALITIS; MYELITIS; acrodermatitis chronica atrophicans; and ARTHRITIS." []
synonym: "Chronic Lyme Disease" EXACT []
synonym: "Post-Treatment Lyme Disease" EXACT []
xref: MESH:D000077342
is_a: DOID:11729 ! Lyme disease
created_by: mtutaj
creation_date: 2022-12-12T13:33:00Z

[Term]
id: DOID:9005091
name: Lentivirus Infections
def: "Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." [MESH:D016180]
synonym: "Lentivirus infection" EXACT []
xref: EFO:1001357
xref: MESH:D016180
is_a: DOID:9006644 ! Retroviridae Infections

[Term]
id: DOID:9005092
name: Argyria
def: "A permanent ashen-gray discoloration of the skin, conjunctiva, and internal organs resulting from long-continued use of silver salts. (Dorland, 27th ed)" [MESH:D001129]
synonym: "Argyrias" EXACT []
xref: MESH:D001129
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:9005094
name: Hereditary Hyperbilirubinemia
alt_id: MIM:237450
alt_id: RDO:0005293
alt_id: RDO:0016141
def: "Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood." [MESH:D006933]
synonym: "HBLRR" EXACT []
synonym: "hereditary hyperbilirubinemias" EXACT []
synonym: "Rotor Syndrome" EXACT []
synonym: "rotor type hyperbilirubinemia" EXACT []
synonym: "SLCO1B3-RELATED CONDITION" EXACT []
xref: MESH:D006933
is_a: DOID:2741 ! bilirubin metabolic disorder
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9005095
name: Putaminal Hemorrhage
def: "Intracranial bleeding into the PUTAMEN, a BASAL GANGLIA nucleus. This is associated with HYPERTENSION and lipohyalinosis of small blood vessels in the putamen. Clinical manifestations vary with the size of hemorrhage, but include HEMIPARESIS; HEADACHE; and alterations of consciousness." [MESH:D020146]
synonym: "Brain Hemorrhage, Putaminal" EXACT []
synonym: "Brain Hemorrhages, Putaminal" EXACT []
synonym: "Putamen Hemorrhage" EXACT []
synonym: "Putaminal Hematoma" EXACT []
xref: MESH:D020146
xref: RDO:0007317
is_a: DOID:9002599 ! Basal Ganglia Hemorrhage

[Term]
id: DOID:9005096
name: Cystocele
def: "A HERNIA-like condition in which the weakened pelvic muscles cause the URINARY BLADDER to drop from its normal position. Fallen urinary bladder is more common in females with the bladder dropping into the VAGINA and less common in males with the bladder dropping into the SCROTUM." [MESH:D052858]
synonym: "Fallen Urinary Bladder" EXACT []
synonym: "Urinary Bladder Prolapse" EXACT []
xref: MESH:D052858
is_a: DOID:365 ! bladder disease
is_a: DOID:9008409 ! Pelvic Organ Prolapse

[Term]
id: DOID:9005097
name: Hyperlipidemia, Combined, 1
alt_id: MIM:602491
synonym: "FCHL1" EXACT []
synonym: "Hyperlipidemia, Familial Combined, 1" EXACT []
synonym: "HYPLIP1" EXACT []
xref: MESH:C566535
is_a: DOID:13809 ! familial combined hyperlipidemia

[Term]
id: DOID:9005098
name: Boerhaave Syndrome
synonym: "Boerhaave's syndrome" EXACT []
synonym: "Boerhave syndrome" EXACT []
xref: MESH:C536571
is_a: DOID:225 ! syndrome
is_a: DOID:9001148 ! Esophageal Perforation
is_a: DOID:9007003 ! Mediastinal Diseases

[Term]
id: DOID:9005099
name: Salmonella Infections, Animal
def: "Infections in animals with bacteria of the genus SALMONELLA." [MESH:D012481]
synonym: "Animal Salmonella Infection" EXACT []
xref: MESH:D012481
xref: RDO:0006519
is_a: DOID:0060859 ! salmonellosis
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9005100
name: Aberrant Crypt Foci
def: "Clusters of colonic crypts that appear different from the surrounding mucosa when visualized after staining. They are of interest as putative precursors to colorectal adenomas and potential biomarkers for colorectal carcinoma." [MESH:D058739]
xref: MESH:D058739
is_a: DOID:0060071 ! pre-malignant neoplasm

[Term]
id: DOID:9005101
name: Carpenter Syndrome 1
synonym: "CRPT1" EXACT []
synonym: "RAB23-RELATED CONDITION" EXACT []
xref: MIM:201000
is_a: DOID:0060234 ! Carpenter syndrome

[Term]
id: DOID:9005102
name: Sexual and Gender Disorders
def: "Mental disorders related to sexual dysfunction, paraphilias, and gender identity disorders." [MESH:D019968]
xref: MESH:D019968
xref: RDO:0006555
is_a: DOID:0060043 ! sexual health disorder

[Term]
id: DOID:9005103
name: Proopiomelanocortin Deficiency
def: "An autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. (OMIM)" []
synonym: "OBAIRH" EXACT []
synonym: "OBESITY, ADRENAL INSUFFICIENCY, AND RED HAIR DUE TO POMC DEFICIENCY" EXACT []
synonym: "Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair" EXACT []
synonym: "POMC-RELATED CONDITION" EXACT []
xref: MESH:C565726
xref: MIM:609734
xref: MONDO:0012335
is_a: DOID:9008622 ! Adrenal Insufficiency
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9005104
name: B-Cell CLL/Lymphoma 2
synonym: "LEUKEMIA/LYMPHOMA, B-CELL, 2" EXACT []
synonym: "ONCOGENE B-CELL LEUKEMIA 2" EXACT []
xref: MIM:151430
xref: RDO:9000195
is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma

[Term]
id: DOID:9005105
name: Adrenal Hyperplasia 2
alt_id: MIM:201810
alt_id: RDO:0015855
synonym: "3 alpha beta-HSD deficiency" EXACT []
synonym: "3 alpha beta-hydroxysteroid dehydrogenase deficiency" EXACT []
synonym: "3 alpha beta-hydroxysteroid dehydrogenase, type 2, deficiency of" EXACT []
synonym: "3 Beta-Hsd Deficiency" EXACT []
synonym: "3beta-Hsd Deficiency" EXACT []
synonym: "3beta-Hsd Deficiency Congenital Adrenal Hyperplasia" EXACT []
synonym: "3-Beta Hydroxysteroid Dehydrogenase Deficiency" EXACT []
synonym: "3beta-Hydroxysteroid Dehydrogenase Deficiency" EXACT []
synonym: "3 beta-ol Dehydrogenase Deficiency" EXACT []
synonym: "3b-Hydroxysteroid Dehydrogenase Deficiency" EXACT []
synonym: "ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY" EXACT []
synonym: "ADRENAL HYPERPLASIA II" EXACT []
synonym: "HSDB" EXACT []
synonym: "HSDB3" EXACT []
synonym: "Type II 3beta-Hydroxysteroid Dehydrogenase Deficiency" EXACT []
xref: MESH:C538236
xref: MESH:C579862
xref: RDO:0004189
is_a: DOID:0050811 ! congenital adrenal hyperplasia

[Term]
id: DOID:9005106
name: Animal Toxoplasmosis
def: "Acquired infection of non-human animals by organisms of the genus TOXOPLASMA." [MESH:D014124]
synonym: "animal toxoplasmoses" EXACT []
xref: MESH:D014124
is_a: DOID:9004157 ! Protozoan Infections, Animal
is_a: DOID:9965 ! toxoplasmosis

[Term]
id: DOID:9005107
name: Chylous Ascites
def: "Presence of milky lymph (CHYLE) in the PERITONEAL CAVITY, with or without infection." [MESH:D002915]
synonym: "Chyloperitoneum" EXACT []
synonym: "Chylous Peritonitis" EXACT []
xref: MESH:D002915
is_a: DOID:9006175 ! Peritoneal Diseases

[Term]
id: DOID:9005108
name: Kallmann Syndrome 2 with Selective Tooth Agenesis
xref: MESH:C566948
is_a: DOID:0050591 ! tooth agenesis
is_a: DOID:0090083 ! hypogonadotropic hypogonadism 2 with or without anosmia

[Term]
id: DOID:9005109
name: Anisomastia
alt_id: MIM:605746
xref: MESH:C565299
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005110
name: Familial Esophageal Achalasia
alt_id: MIM:200400
xref: MESH:C536011
is_a: DOID:9164 ! achalasia

[Term]
id: DOID:9005111
name: morphine withdrawal syndrome
def: "This disorder happens in human morphine-addicted patients after stopping the intake of morphine. Intense symptoms including anxiety, irritability, and various physical manifestations such as sweating, muscle aches, and gastrointestinal disturbances start within 8-12 hours after last intake and lasts 7-10 days. In model organisms such as mice and rats, symptoms of morphine withdrawal include \"wet dog\" shakes, teeth chatter, jumping, and ptosis." [https://www.drugrehab.com/addiction/prescription-drugs/morphine/withdrawal/, PMID:33727130]
synonym: "morphine withdrawal disorder" EXACT []
xref: PMID:30689982
is_a: DOID:9004965 ! opiate withdrawal syndrome
created_by: slaulederkind
creation_date: 2024-01-25T17:18:25Z

[Term]
id: DOID:9005112
name: Immunodeficiency 113
def: "An autosomal recessive complex immunologic disorder with onset of symptoms in infancy. Affected individuals have recurrent infections and usually show features of autoimmunity and autoinflammation. Caused by homozygous mutation in the ARPC5 gene on chromosome 1q25." [MIM:620565]
synonym: "IMD113" EXACT []
synonym: "Immunodeficiency 133 with autoimmunity and autoinflammation" EXACT []
xref: MIM:620565
is_a: DOID:417 ! autoimmune disease
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: tutajm
creation_date: 2023-12-04T12:15:10Z

[Term]
id: DOID:9005113
name: X-Linked Intellectual Developmental Disorder 110
def: "A disease characterized by moderately to severely impaired intellectual development. Caused by a hemizygous mutation in the FGF13 gene on chromosome Xq26." [MIM:301095]
synonym: "XLID110" EXACT []
xref: MIM:301095
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
created_by: mtutaj
creation_date: 2023-01-19T09:23:43Z

[Term]
id: DOID:9005114
name: Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked
synonym: "Left Ventricular Noncompaction, Isolated, X-Linked" EXACT []
xref: MESH:C564571
is_a: DOID:0050476 ! Barth syndrome

[Term]
id: DOID:9005115
name: Urinoma
def: "An encapsulated accumulation of URINE in the retroperitoneal area. It has the appearance of a cyst (CYSTS). Urinoma is usually caused by URETERAL OBSTRUCTION, renal trauma or perforation of the renal collecting system." [MESH:D053584]
synonym: "Urinomas" EXACT []
xref: MESH:D053584
xref: RDO:0007626
is_a: DOID:9007629 ! Urological Manifestations

[Term]
id: DOID:9005116
name: Pott Puffy Tumor
def: "Infection of the FRONTAL BONE often as a complication of FRONTAL SINUSITIS or trauma to the frontal bone and skull. It is characterized by subperiosteal abscess with OSTEOMYELITIS." [MESH:D059369]
synonym: "Pott's Puffy Tumor" EXACT []
synonym: "Potts Puffy Tumor" EXACT []
xref: MESH:D059369
is_a: DOID:1019 ! osteomyelitis
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:9005117
name: Ladda Zonana Ramer Syndrome
alt_id: MESH:C535465
alt_id: MIM:301815
synonym: "arthrogryposis, ectodermal dysplasia, cleft lip palate and developmental delay" EXACT []
synonym: "congenital contractures, ectodermal dysplasia, cleft lip-palate, and developmental impairment" EXACT []
synonym: "contractures, ectodermal dysplasia, cleft lip palate" EXACT []
xref: MESH:C538135
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:674 ! cleft palate
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9005118
name: Familial Hypersensitivity Pneumonitis
alt_id: MIM:145300
xref: MESH:C536846
is_a: DOID:841 ! extrinsic allergic alveolitis

[Term]
id: DOID:9005119
name: BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA
def: "A disease characterized by suprabasal acantholytic blisters limited to the oral and laryngeal mucosa." [MIM:619226]
synonym: "ABOLM" EXACT []
synonym: "acantholytic blistering of the oral and laryngeal mucosa" EXACT []
xref: MIM:619226
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9006894 ! Oral Manifestations
is_a: DOID:9008110 ! Blister
created_by: slaulede
creation_date: 2021-04-06T17:54:55Z

[Term]
id: DOID:9005120
name: Pigmented Nevus
def: "A nevus containing melanin. The term is usually restricted to nevocytic nevi (round or oval collections of melanin-containing nevus cells occurring at the dermoepidermal junction of the skin or in the dermis proper) or moles, but may be applied to other pigmented nevi." [MESH:D009508]
synonym: "Melanocytic Nevi" EXACT []
synonym: "Melanocytic Nevus" EXACT []
synonym: "Pigmented Moles" EXACT []
synonym: "Pigmented Nevi" EXACT []
xref: EFO:0009676
xref: MESH:D009508
is_a: DOID:9002969 ! Nevus

[Term]
id: DOID:9005121
name: Atonic-Astatic Syndrome of Foerster
alt_id: MIM:209100
xref: MESH:C565926
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:9005123
name: Baralle-Macken Syndrome
synonym: "BARMACS" EXACT []
synonym: "neurodevelopmental disorder with cataracts and variable microcephaly" EXACT []
xref: MIM:619255
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2021-04-13T12:56:25Z

[Term]
id: DOID:9005124
name: Nonpuerperal Galactorrhea
alt_id: MIM:104600
synonym: "Ahumada-Del Castillo syndrome" EXACT []
synonym: "amenorrhea-galactorrhea-FSH decrease syndrome" EXACT []
synonym: "Amenorrhea-Galactorrhea Syndrome" EXACT []
synonym: "Argonz-Ahumada-Del Castillo syndrome" EXACT []
synonym: "Argonz-Del Castillo Syndrome" EXACT []
synonym: "Forbes Albright syndrome" EXACT []
synonym: "Galactorrhea-Amenorrhea without Pregnancy" EXACT []
synonym: "nonpuerperal galactorrhea-amenorrhea" EXACT []
xref: MESH:C537072
is_a: DOID:13938 ! amenorrhea
is_a: DOID:9002090 ! Galactorrhea

[Term]
id: DOID:9005125
name: Lupus Vasculitis, Central Nervous System
def: "Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders." [MESH:D020945]
synonym: "Central Nervous System Lupus" EXACT []
synonym: "Central Nervous System Systemic Lupus Erythematosis" EXACT []
synonym: "Lupus Meningoencephalitides" EXACT []
synonym: "Lupus Meningoencephalitis" EXACT []
synonym: "Neuropsychiatric Systemic Lupus Erythematosus" EXACT []
xref: EFO:1001363
xref: MESH:D020945
is_a: DOID:10554 ! meningoencephalitis
is_a: DOID:525 ! central nervous system vasculitis
is_a: DOID:9074 ! systemic lupus erythematosus

[Term]
id: DOID:9005126
name: Malonic Aciduria
alt_id: MIM:248360
synonym: "DEFICIENCY OF MALONYL-COA DECARBOXYLASE" EXACT []
synonym: "Malonicaciduria" EXACT []
synonym: "Malonyl-CoA decarboxylase deficiency" EXACT []
synonym: "Malonyl-Coenzyme A Decarboxylase Deficiency" EXACT []
xref: MESH:C535702
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9005127
name: germ cell tumor
def: "This is a benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." [NCI:C3708]
synonym: "germ cell neoplasm" EXACT []
synonym: "neoplasm of germ cell" EXACT []
synonym: "tumor of germ cell" EXACT []
xref: EFO:0000514
is_a: DOID:9008651 ! reproductive system neoplasm
created_by: slaulede
creation_date: 2022-09-13T14:41:51Z

[Term]
id: DOID:9005128
name: Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs
alt_id: MIM:601355
xref: MESH:C563341
is_a: DOID:10907 ! microcephaly
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9005129
name: Transient Neonatal Diabetes Mellitus, 2
alt_id: MIM:610374
synonym: "TNDM2" EXACT []
xref: MESH:C563672
is_a: DOID:0060334 ! transient neonatal diabetes mellitus

[Term]
id: DOID:9005130
name: ABC Disease
xref: MESH:C579754
xref: RDO:0015813
is_a: DOID:14566 ! disease of cellular proliferation

[Term]
id: DOID:9005131
name: Metatarsal Valgus
def: "A foot anomaly in which the forefoot is angled outward relative to the hindfoot." [MESH:D000070591]
synonym: "Metatarsus Valgus" EXACT []
synonym: "Out Toeing" EXACT []
synonym: "Out-Toeings" EXACT []
synonym: "Toeing Outs" EXACT []
xref: MESH:D000070591
xref: RDO:0016058
is_a: DOID:9003938 ! Foot Deformities

[Term]
id: DOID:9005132
name: Distal Renal Tubular Acidosis, Type 3
alt_id: MIM:267200
synonym: "bicarbonate-wasting RTA" EXACT []
synonym: "renal tubular acidosis III" EXACT []
synonym: "RTA, bicarbonate-wasting type" EXACT []
synonym: "RTA, dislocation type" EXACT []
xref: MESH:C537759
is_a: DOID:9007406 ! Distal Renal Tubular Acidosis

[Term]
id: DOID:9005133
name: AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency
alt_id: MIM:608688
synonym: "AICA-ribosiduria due to ATIC deficiency" EXACT []
synonym: "AICA ribosuria due to ATIC deficiency" EXACT []
synonym: "AICAR transformylase/IMP cyclohydrolase deficiency" EXACT []
synonym: "ATIC deficiency" EXACT []
xref: MESH:C563876
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9005134
name: Plagiocephaly and X-Linked Mental Retardation
alt_id: MIM:300064
synonym: "Hyde Forster Mccarthy Berry syndrome" EXACT []
synonym: "Mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features" EXACT []
synonym: "X-linked mental retardation, Hyde-Forster type" EXACT []
synonym: "X-linked mental retardation, with craniofacial dysmorphism" EXACT []
xref: MESH:C537512
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9005135
name: Hypospadias-Mental Retardation Syndrome
alt_id: MIM:241760
xref: MESH:C563067
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10892 ! hypospadias
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9005077 ! Joint Instability

[Term]
id: DOID:9005136
name: Fraser Jequier Chen Syndrome
xref: MESH:C535481
xref: RDO:0000617
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:758 ! situs inversus
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005137
name: Myopathic Carnitine Deficiency
alt_id: MIM:212160
xref: GARD:6616
xref: MESH:C536100
is_a: DOID:0080000 ! muscular disease

[Term]
id: DOID:9005138
name: Self-Healing Collodion Baby
alt_id: RDO:0014098
xref: MESH:C565473
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:9005139
name: Extensively Drug-Resistant Tuberculosis
def: "Tuberculosis resistant to ISONIAZID and RIFAMPIN and at least three of the six main classes of second-line drugs (AMINOGLYCOSIDES; polypeptide agents; FLUOROQUINOLONES; THIOAMIDES; CYCLOSERINE; and PARA-AMINOSALICYLIC ACID) as defined by the CDC." [MESH:D054908]
synonym: "Extensively Drug-Resistant Tuberculoses" EXACT []
synonym: "Extremely Drug-Resistant Tuberculoses" EXACT []
synonym: "Extremely Drug Resistant Tuberculosis" EXACT []
synonym: "XDR-TB" EXACT []
xref: MESH:D054908
xref: RDO:0007691
is_a: DOID:401 ! multidrug-resistant tuberculosis

[Term]
id: DOID:9005140
name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES
synonym: "NEDMAS" EXACT []
synonym: "SARS1-RELATED DISORDERS" EXACT []
xref: MIM:617709
is_a: DOID:10907 ! microcephaly
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2017-12-06T00:00:00Z

[Term]
id: DOID:9005141
name: Ventricular Tachycardia
def: "An abnormally rapid ventricular rhythm usually in excess of 150 beats per minute. It is generated within the ventricle below the BUNDLE OF HIS, either as autonomic impulse formation or reentrant impulse conduction. Depending on the etiology, onset of ventricular tachycardia can be paroxysmal (sudden) or nonparoxysmal, its wide QRS complexes can be uniform or polymorphic, and the ventricular beating may be independent of the atrial beating (AV dissociation)." [MESH:D017180]
synonym: "EFFORT-INDUCED POLYMORPHIC VENTRICULAR TACHYCARDIAS" NARROW []
synonym: "Ventricular Tachycardias" EXACT []
synonym: "VENTRICULAR TACHYCARDIA, SOMATIC" NARROW []
xref: EFO:0005306
xref: MESH:D017180
xref: NCI:C50802
is_a: DOID:9002554 ! Tachycardia

[Term]
id: DOID:9005142
name: Stomach Volvulus
def: "Twisting of the STOMACH that may result in gastric ISCHEMIA and GASTRIC OUTLET OBSTRUCTION. It is often associated with DIAPHRAGMATIC HERNIA." [MESH:D013277]
synonym: "Gastric Volvulus" EXACT []
xref: EFO:1001852
xref: MESH:D013277
is_a: DOID:76 ! stomach disease

[Term]
id: DOID:9005143
name: Atypical Meningioma
def: "This is a WHO grade II meningioma characterized by the presence of brain invasion and an increased mitotic activity, or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." [NCI:C4723]
xref: EFO:1000101
is_a: DOID:3565 ! meningioma
created_by: slaulede
creation_date: 2022-10-25T13:50:13Z

[Term]
id: DOID:9005144
name: Autoimmune Lymphoproliferative Syndrome, Type IA
synonym: "ALPS1A" EXACT []
synonym: "Autoimmune lymphoproliferative syndrome, type 1a" EXACT []
xref: MESH:C566613
is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome

[Term]
id: DOID:9005145
name: High Myopia with Cataract and Vitreoretinal Degeneration
synonym: "MCVD" EXACT []
synonym: "P3H2-RELATED CONDITION" EXACT []
xref: MIM:614292
is_a: DOID:83 ! cataract
is_a: DOID:8466 ! retinal degeneration
is_a: DOID:9002189 ! High Myopia

[Term]
id: DOID:9005147
name: Hydatidiform Mole
def: "Trophoblastic hyperplasia associated with normal gestation, or molar pregnancy. It is characterized by the swelling of the CHORIONIC VILLI and elevated human CHORIONIC GONADOTROPIN. Hydatidiform moles or molar pregnancy may be categorized as complete or partial based on their gross morphology, histopathology, and karyotype." [MESH:D006828]
synonym: "CHM" EXACT []
synonym: "Complete Hydatidiform Mole" EXACT []
synonym: "complete hydatidiform moles" EXACT []
synonym: "GESTATIONAL TROPHOBLASTIC DISEASE" EXACT []
synonym: "Hydatidiform Moles" EXACT []
synonym: "Hydatid Mole" EXACT []
synonym: "Hydatid Moles" EXACT []
synonym: "HYDM" EXACT []
synonym: "Molar Pregnancies" EXACT []
synonym: "Molar Pregnancy" EXACT []
synonym: "Partial Hydatidiform Mole" EXACT []
synonym: "partial hydatidiform moles" EXACT []
xref: EFO:1000298
xref: MESH:D006828
is_a: DOID:3590 ! gestational trophoblastic neoplasm

[Term]
id: DOID:9005148
name: Multiple Chronic Conditions
def: "Two or more concurrent chronic physical, mental, or behavioral health problems in an individual." [MESH:D000071069]
synonym: "Multiple Chronic Disease" EXACT []
synonym: "Multiple Chronic Diseases" EXACT []
synonym: "Multiple Chronic Health Conditions" EXACT []
synonym: "Multiple Chronic Illnesses" EXACT []
synonym: "Multiple Chronic Medical Conditions" EXACT []
xref: MESH:D000071069
xref: RDO:0016071
is_a: DOID:9000144 ! Chronic Disease

[Term]
id: DOID:9005149
name: Ovary Reperfusion Injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the ovaries, including swelling; hemorrhage; necrosis; and damage from free radicals." []
synonym: "ovarian ischemia/reperfusion injury" EXACT []
synonym: "ovarian reperfusion injury" EXACT []
synonym: "ovary ischemia/reperfusion injury" EXACT []
xref: RDO:9001208
is_a: DOID:1100 ! ovarian disease
is_a: DOID:9004009 ! Reperfusion Injury
created_by: rgd
creation_date: 2016-06-30T00:00:00Z

[Term]
id: DOID:9005150
name: Mosaic Variegated Aneuploidy Syndrome 6
def: "An autosomal recessive disorder characterized by poor overall growth with microcephaly and short stature, dysmorphic facial features, and congenital cardiac defects. Caused by homozygous or compound heterozygous mutation in the SMC5 gene on chromosome 9q21." [MIM:620185]
synonym: "Atelis syndrome 2" EXACT []
synonym: "ATELS2" EXACT []
synonym: "MVA6" EXACT []
synonym: "POOR GROWTH, MICROCEPHALY, DYSMORPHIC FACIES, AND CARDIAC DEFECTS" EXACT []
xref: MIM:620185
is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome
is_a: DOID:10907 ! microcephaly
is_a: DOID:9002682 ! Cardiovascular Abnormalities
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007661 ! Dwarfism
created_by: mtutaj
creation_date: 2023-01-10T08:30:41Z

[Term]
id: DOID:9005151
name: Selective Tooth Agenesis 1
synonym: "HYD1" EXACT []
synonym: "Hypodontia Oligodontia 1" EXACT []
synonym: "SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF" EXACT []
synonym: "STHAG1" EXACT []
synonym: "Tooth agenesis, selective, 1, with or without orofacial cleft" EXACT []
xref: MIM:106600
xref: MONDO:0007129
is_a: DOID:0050591 ! tooth agenesis
created_by: mtutaj
creation_date: 2019-03-15T13:40:38Z

[Term]
id: DOID:9005152
name: Junctional Epidermolysis Bullosa 3B, Severe
synonym: "JEB3B" EXACT []
synonym: "Junctional Epidermolysis Bullosa 3B, Generalized Severe" EXACT []
synonym: "Junctional Epidermolysis Bullosa 3B, Herlitz Type" EXACT []
synonym: "severe junctional epidermolysis bullosa 3B" EXACT []
xref: MIM:619786
is_a: DOID:0060737 ! junctional epidermolysis bullosa Herlitz type
created_by: mtutaj
creation_date: 2022-06-07T11:07:02Z

[Term]
id: DOID:9005153
name: DEGCAGS SYNDROME
def: "This disease is an autosomal recessive, syndromic, neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy." [MIM:619488]
synonym: "DEGCAGS" EXACT []
synonym: "DEVELOPMENTAL DELAY WITH GASTROINTESTINAL, CARDIOVASCULAR, GENITOURINARY, AND SKELETAL ABNORMALITIES" EXACT []
xref: MIM:619488
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2021-10-18T13:55:06Z

[Term]
id: DOID:9005154
name: Myoclonic Epilepsies
alt_id: OMIA:002095
def: "A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.)." [MESH:D004831]
synonym: "cryptogenic myoclonic epilepsies" EXACT []
synonym: "Cryptogenic Myoclonic Epilepsy" EXACT []
synonym: "GENERALIZED MYOCLONIC SEIZURES" NARROW []
synonym: "idiopathic myoclonic epilepsies" EXACT []
synonym: "Idiopathic Myoclonic Epilepsy" EXACT []
synonym: "myoclonia epileptica" EXACT []
synonym: "Myoclonic Absence Epilepsies" EXACT []
synonym: "Myoclonic Absence Epilepsy" EXACT []
synonym: "MYOCLONIC ABSENCE SEIZURE" EXACT []
synonym: "Myoclonic Astatic Epilepsies" EXACT []
synonym: "Myoclonic Astatic Epilepsy" EXACT []
synonym: "Myoclonic Encephalopathies" EXACT []
synonym: "Myoclonic Encephalopathy" EXACT []
synonym: "Myoclonic Epilepsy" EXACT []
synonym: "myoclonic epileptic seizures" EXACT []
synonym: "myoclonic seizure" EXACT []
synonym: "Myoclonic Seizure Disorder" EXACT []
synonym: "Myoclonic Seizure Disorders" EXACT []
synonym: "Myoclonus Epilepsies" EXACT []
synonym: "myoclonus epilepsy" EXACT []
synonym: "symptomatic myoclonic epilepsies" EXACT []
synonym: "symptomatic myoclonic epilepsy" EXACT []
xref: EFO:1001900
xref: MESH:D004831
is_a: DOID:1826 ! epilepsy
is_a: DOID:9007722 ! Myoclonus

[Term]
id: DOID:9005155
name: Amelia, Autosomal Recessive
alt_id: MIM:601360
synonym: "PAPPAS" EXACT []
synonym: "posterior amelia with pelvic and pulmonary hypoplasia syndrome" EXACT []
synonym: "TBX4-RELATED CONDITION" BROAD []
xref: MESH:C563338
is_a: DOID:9000545 ! Ectromelia

[Term]
id: DOID:9005156
name: Striatal Degeneration, Autosomal Dominant 2
def: "A neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive. (OMIM)" []
synonym: "ADSD2" EXACT []
xref: MIM:616922
is_a: DOID:9006845 ! Striatal Degeneration, Autosomal Dominant
created_by: rgd
creation_date: 2016-06-14T00:00:00Z

[Term]
id: DOID:9005157
name: Autosomal Dominant Nonsyndromic Deafness 90
def: "A nonsyndromic form of bilateral progressive sensorineural hearing loss, which is mild to severe and affects all frequencies. Caused by heterozygous mutation in the MYO3A gene on chromosome 10p12." [MIM:620722]
synonym: "Deafness, autosomal dominant 90" EXACT []
synonym: "DFNA90" EXACT []
xref: MIM:620722
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: tutajm
creation_date: 2024-02-19T14:34:34Z

[Term]
id: DOID:9005158
name: Cushing Syndrome
alt_id: DOID:12252
def: "A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent." []
synonym: "Cushing's syndrome" EXACT []
synonym: "Cushing syndrome" EXACT []
xref: EFO:0003099
xref: MESH:D003480
is_a: DOID:225 ! syndrome
is_a: DOID:3947 ! adrenal gland hyperfunction
created_by: rgd
creation_date: 2017-12-06T00:00:00Z

[Term]
id: DOID:9005159
name: Brachial Palsy, Familial Congenital
alt_id: MIM:608585
xref: MESH:C563901
xref: RDO:0013035
is_a: DOID:3690 ! brachial plexus neuropathy

[Term]
id: DOID:9005160
name: Myofibrillar Myopathy, ZASP-Related
alt_id: RDO:0012905
synonym: "MFM, Zasp-related" EXACT []
xref: MESH:C563718
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9005161
name: Thymus Neoplasms
alt_id: RDO:0002627
def: "Tumors or cancer of the THYMUS GLAND." [MESH:D013953]
synonym: "neoplasm of thymus" EXACT []
synonym: "thymic neoplasm" EXACT []
synonym: "thymic neoplasms" EXACT []
synonym: "thymic tumor" EXACT []
synonym: "thymic tumors" EXACT []
synonym: "Thymus Neoplasm" EXACT []
synonym: "Thymus Tumor" EXACT []
synonym: "Thymus Tumors" EXACT []
xref: EFO:0002626
xref: MESH:D013953
xref: NCI:C3412
is_a: DOID:533 ! thymus gland disease
is_a: DOID:9007920 ! Thoracic Neoplasms

[Term]
id: DOID:9005162
name: Familial Atrial Fibrillation 1
synonym: "Atfb1" EXACT []
synonym: "Autosomal dominant atrial fibrillation" EXACT []
xref: MESH:C538261
xref: MIM:608583
xref: MONDO:0012066
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9005163
name: Chromosome 15q, Tetrasomy
synonym: "Tetrasomy 15q" EXACT []
xref: MESH:C538039
xref: RDO:0003973
is_a: DOID:9008692 ! Aneuploidy

[Term]
id: DOID:9005164
name: Primary Congenital Glaucoma 3, E
synonym: "GLC3E" EXACT []
synonym: "primary congenital glaucoma-3E" EXACT []
synonym: "TEK-RELATED CONDITION" BROAD []
xref: MIM:617272
is_a: DOID:0050593 ! primary congenital glaucoma

[Term]
id: DOID:9005165
name: Deaf-Blind Disorders
def: "The absence of both hearing and vision." [MESH:D054062]
synonym: "Blind-Deaf Disorder" EXACT []
synonym: "Blindness Deafness" EXACT []
synonym: "Deaf-Blindness Disorder" EXACT []
synonym: "Deaf Blindness Disorders" EXACT []
synonym: "Deaf-Blind Syndrome" EXACT []
synonym: "Deaf Blind Syndromes" EXACT []
synonym: "Deaf-Mutism-Blind Disorder" EXACT []
synonym: "Deaf Mutism Blind Disorders" EXACT []
synonym: "Hearing and Vision Loss" EXACT []
synonym: "Prelingual Deaf-Blind Disorder" EXACT []
synonym: "Prelingual Deaf Blind Disorders" EXACT []
synonym: "Prelingual Deafness Blindness" EXACT []
synonym: "Prelingual Deafness-Blindnesses" EXACT []
xref: MESH:D054062
is_a: DOID:1432 ! blindness
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9005166
name: Contusions
def: "Injuries resulting in hemorrhage, usually manifested in the skin." [MESH:D003288]
synonym: "Bruise" EXACT []
synonym: "Bruises" EXACT []
synonym: "Contusion" EXACT []
xref: MESH:D003288
is_a: DOID:9006659 ! Nonpenetrating Wounds

[Term]
id: DOID:9005167
name: Cryptogenic Cirrhosis
alt_id: RDO:0012230
xref: MESH:C562577
is_a: DOID:5082 ! liver cirrhosis

[Term]
id: DOID:9005169
name: Complement Factor B Deficiency
synonym: "CFBD" EXACT []
xref: MIM:615561
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:9005170
name: polyagglutination
def: "This is a hematopoietic system disease condition that is characterized by red blood cells that agglutinate upon exposure to almost all human sera or to transfused donor blood cells that show strong Sd(a++) expression." [PMID:10791887]
xref: MIM:111400
xref: MIM:615018
is_a: DOID:74 ! hematopoietic system disease
created_by: slaulede
creation_date: 2023-05-05T07:58:02Z

[Term]
id: DOID:9005171
name: Acute Uveitis
def: "Inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, having a quick onset and relatively short course." []
is_a: DOID:13141 ! uveitis

[Term]
id: DOID:9005172
name: Lung Neoplasms
def: "Tumors of the LUNG." [MESH:D008175]
synonym: "CYP2A6*4A" RELATED []
synonym: "lung neoplasm" EXACT []
synonym: "pulmonary neoplasm" EXACT []
synonym: "pulmonary neoplasms" EXACT []
xref: MESH:D008175
is_a: DOID:850 ! lung disease
is_a: DOID:9003744 ! Respiratory Tract Neoplasms

[Term]
id: DOID:9005173
name: Microphthalmia and Mental Deficiency
synonym: "colobomatous microphthalmia" EXACT []
synonym: "microphthalmos, severe mental retardation, and spastic cerebral palsy" EXACT []
synonym: "Pinsky DiGeorge Harley syndrome" EXACT []
xref: MESH:C537462
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10629 ! microphthalmia
is_a: DOID:10907 ! microcephaly
is_a: DOID:12270 ! coloboma
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9008606 ! Corneal Opacity

[Term]
id: DOID:9005174
name: Acute Malaria
synonym: "Chronic malaria" EXACT []
xref: MESH:C531736
is_a: DOID:12365 ! malaria

[Term]
id: DOID:9005175
name: Ulcer
def: "A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue." [MESH:D014456]
synonym: "Ulcers" EXACT []
xref: MESH:D014456
xref: MONDO:0043839
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9005176
name: Retroperitoneal Fibrosis
def: "A slowly progressive condition of unknown etiology, characterized by deposition of fibrous tissue in the retroperitoneal space compressing the ureters, great vessels, bile duct, and other structures. When associated with abdominal aortic aneurysm, it may be called chronic periaortitis or inflammatory perianeurysmal fibrosis." [MESH:D012185]
synonym: "chronic periaortitides" EXACT []
synonym: "Chronic Periaortitis" EXACT []
synonym: "Idiopathic Retroperitoneal Fibrosis" EXACT []
synonym: "Inflammatory Perianeurysmal Fibrosis" EXACT []
synonym: "Ormond's Disease" EXACT []
synonym: "Ormond Disease" EXACT []
synonym: "retroperitoneal fibroses" EXACT []
xref: MESH:D012185
is_a: DOID:9000784 ! Fibrosis

[Term]
id: DOID:9005177
name: Bahemuka Brown Syndrome
synonym: "Spastic paraplegia facial cutaneous lesions" EXACT []
xref: MESH:C537797
is_a: DOID:225 ! syndrome
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:2723 ! dermatitis
is_a: DOID:9001722 ! Dysarthria
is_a: DOID:9005219 ! Abnormal Reflexes

[Term]
id: DOID:9005178
name: Combined Pituitary Hormone Deficiency 8
def: "An autosomal dominant disorder characterized by deficiency of one or more of the pituitary hormones. Affected individuals have short stature due to growth hormone deficiency with variable deficiencies of other pituitary hormones, including TSH ACTH, and LH/FSH. Caused by heterozygous mutation in the ROBO1 gene on chromosome 3p12." [MIM:620303]
synonym: "CPHD8" EXACT []
synonym: "Pituitary hormone deficiency, combined or isolated, 8" EXACT []
xref: MIM:620303
is_a: DOID:9410 ! panhypopituitarism
created_by: mtutaj
creation_date: 2023-04-10T08:43:35Z

[Term]
id: DOID:9005179
name: Chronic Brain Injury
def: "Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from DIFFUSE AXONAL INJURY; INTRACRANIAL HEMORRHAGES; BRAIN EDEMA; and other conditions. Clinical features may include DEMENTIA; focal neurologic deficits; PERSISTENT VEGETATIVE STATE; AKINETIC MUTISM; or COMA." [MESH:D020208]
synonym: "Chronic Brain Injuries" EXACT []
xref: MESH:D020208
is_a: DOID:9000998 ! Brain Injuries
is_a: DOID:9008381 ! Chronic Brain Damage

[Term]
id: DOID:9005180
name: Premature Aging, Okamoto Type
xref: MESH:C535270
xref: RDO:0000248
is_a: DOID:11476 ! osteoporosis
is_a: DOID:3347 ! osteosarcoma
is_a: DOID:83 ! cataract
is_a: DOID:9002644 ! Premature Aging
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9005181
name: Multi-Infarct Dementia
def: "Loss of higher cortical functions with retained awareness due to multiple cortical or subcortical CEREBRAL INFARCTION. Memory, judgment, attention span, and impulse control are often impaired, and may be accompanied by PSEUDOBULBAR PALSY; HEMIPARESIS; reflex abnormalities, and other signs of localized neurologic dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p1060)" [MESH:D015161]
synonym: "Dementia Multi-Infarcts" EXACT []
synonym: "Lacunar Dementia" EXACT []
synonym: "lacunar dementias" EXACT []
synonym: "multiinfarct dementia" EXACT []
synonym: "multi-infarct dementias" EXACT []
synonym: "multiinfarct dementias" EXACT []
xref: MESH:D015161
is_a: DOID:3526 ! cerebral infarction
is_a: DOID:8725 ! vascular dementia

[Term]
id: DOID:9005182
name: Chemotherapy-induced nausea and vomiting
synonym: "Chemotherapy disorder" EXACT []
synonym: "Chemotherapy induced vomiting" NARROW []
synonym: "Chemotherapy sickness" EXACT []
xref: EFO:0006911
is_a: DOID:9004751 ! Nausea
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions
is_a: DOID:9008385 ! Vomiting
created_by: slaulede
creation_date: 2022-12-30T11:26:52Z

[Term]
id: DOID:9005184
name: Heyn-Sproul-Jackson Syndrome
synonym: "HESJAS" EXACT []
xref: MIM:618724
is_a: DOID:10907 ! microcephaly
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2020-01-06T07:50:11Z

[Term]
id: DOID:9005185
name: Ichthyosis Cheek Eyebrow Syndrome
alt_id: MIM:146720
synonym: "ICE Syndrome" EXACT []
synonym: "Sidransky Feinstein Goodman syndrome" EXACT []
xref: MESH:C536084
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005186
name: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA
def: "This disease is characterized by neonatal onset of chronic cough, episodic wheezing, recurrent lower respiratory tract infections, chronic diarrhea, and failure to thrive. Despite the resemblance to cystic fibrosis, these patients have normal sweat chloride and pancreatic elastase tests." [MIM:620233]
synonym: "RIFTD" EXACT []
xref: MIM:620233
is_a: DOID:13250 ! diarrhea
is_a: DOID:9008680 ! Respiratory Tract Infections
created_by: slaulede
creation_date: 2023-05-11T13:53:43Z

[Term]
id: DOID:9005187
name: Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy
alt_id: MIM:220219
synonym: "Facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation" EXACT []
xref: MESH:C535985
is_a: DOID:11830 ! myopia
is_a: DOID:2785 ! Dandy-Walker syndrome

[Term]
id: DOID:9005188
name: Thoraco Limb Dysplasia Rivera Type
synonym: "Rivera Perez Salas syndrome" EXACT []
xref: MESH:C536516
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9005189
name: Vacuolar Myopathy
alt_id: MIM:609500
alt_id: MIM:616231
synonym: "Autophagic vacuolar myopathy" EXACT []
synonym: "CASQ1-RELATED CONDITION" EXACT []
synonym: "Myopathy, Autophagic Vacuolar, Infantile-Onset" EXACT []
synonym: "vacuolar myopathy with CASQ1 aggregates" NARROW []
synonym: "VMCQA" NARROW []
xref: MESH:C536522
is_a: DOID:0080000 ! muscular disease
is_a: DOID:3211 ! lysosomal storage disease

[Term]
id: DOID:9005190
name: Juberg Hayward Syndrome
alt_id: MIM:216100
synonym: "cleft lip/palate with radial head and digital anomalies" EXACT []
synonym: "cleft lip-palate with abnormal thumbs and microcephaly" EXACT []
synonym: "cranio-oro-digital syndrome" EXACT []
synonym: "ESCO2-RELATED CONDITION" BROAD []
synonym: "JHS" EXACT []
synonym: "orocraniodigital syndrome" EXACT []
xref: MESH:C537690
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:4501 ! orofaciodigital syndrome
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005191
name: Linear IgA Bullous Dermatosis
def: "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of IMMUNOGLOBULIN A and occasionally IMMUNOGLOBULIN G classes against epidermal BASEMENT MEMBRANE proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., VANCOMYCIN)." [MESH:D062027]
synonym: "Chronic Bullous Disease of Childhood" EXACT []
synonym: "Drug induced Linear IgA Bullous Dermatosis" EXACT []
synonym: "Drug induced Linear IgA Dermatosis" EXACT []
synonym: "Linear IgA Dermatoses" EXACT []
synonym: "Linear IgA Dermatosis" EXACT []
synonym: "Linear IgA IgG Bullous Dermatosis" EXACT []
synonym: "Linear IgA IgG Dermatosis" EXACT []
xref: EFO:0009313
xref: MESH:D062027
is_a: DOID:2731 ! vesiculobullous skin disease
is_a: DOID:417 ! autoimmune disease

[Term]
id: DOID:9005192
name: Arena Syndrome
synonym: "Spastic paraplegia with iron deposits in basal ganglia" EXACT []
xref: MESH:C537428
is_a: DOID:225 ! syndrome
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9005193
name: Osteochondroma
def: "A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors." [MESH:D015831]
synonym: "Cartilaginous Exostoses" EXACT []
synonym: "Cartilaginous Exostosis" EXACT []
synonym: "Chondrosteoma" EXACT []
synonym: "Chondrosteomas" EXACT []
synonym: "Osteocartilaginous Exostoses" EXACT []
synonym: "Osteocartilaginous Exostosis" EXACT []
synonym: "Osteochondromas" EXACT []
xref: EFO:1000411
xref: MESH:D015831
xref: NCI:C3295
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:2602 ! chondroma
is_a: DOID:9007603 ! Bone Tissue Neoplasms

[Term]
id: DOID:9005194
name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES
def: "A severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination. (OMIM)" []
synonym: "NMIHBA" EXACT []
xref: MIM:617481
is_a: DOID:10907 ! microcephaly
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: rgd
creation_date: 2017-06-20T00:00:00Z

[Term]
id: DOID:9005196
name: Autosomal Dominant Intellectual Developmental Disorder 68
def: "Characterized by developmental delay/intellectual disability, microcephaly, poor growth, feeding difficulties, and dysmorphic features. Caused by heterozygous mutation in the KMT2B gene on chromosome 19q13." []
synonym: "autosomal dominant mental retardation 68" EXACT []
synonym: "KMT2B-RELATED CONDITION" BROAD []
synonym: "MRD68" EXACT []
xref: MIM:619934
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-07-18T10:59:04Z

[Term]
id: DOID:9005197
name: X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein
alt_id: MIM:308220
synonym: "Gpl115 Deficiency" EXACT []
xref: MESH:C564120
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9005198
name: Chromosome 3, Trisomy 3p
synonym: "Duplication 3p" EXACT []
synonym: "Trisomy 3p" EXACT []
xref: MESH:C536811
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9005199
name: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
synonym: "BENTA" EXACT []
xref: MIM:616452
is_a: DOID:9000756 ! Persistent Polyclonal B-Cell Lymphocytosis

[Term]
id: DOID:9005201
name: Oocyte/Zygote/Embryo Maturation Arrest 17
def: "A female infertility due to arrest of the embryo after the first rounds of cleavage or failure to establish pregnancy after implantation. Caused by homozygous or compound heterozygous mutation in the KPNA7 gene on chromosome 7q22." [MIM:620319]
synonym: "OZEMA17" EXACT []
xref: MIM:620319
xref: MONDO:0957220
is_a: DOID:9007456 ! Female Infertility
created_by: mtutaj
creation_date: 2023-04-11T09:48:57Z

[Term]
id: DOID:9005202
name: Primary Ciliary Dyskinesia 48
def: "An autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance. Caused by homozygous mutation in the NME5 gene on chromosome 5q31." []
synonym: "CILD48" EXACT []
synonym: "primary ciliary dyskinesia-48 without situs inversus" EXACT []
xref: MIM:620032
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: mtutaj
creation_date: 2022-09-16T12:01:26Z

[Term]
id: DOID:9005203
name: Periventricular Nodular Heterotopia 3
alt_id: MIM:608098
alt_id: RDO:0013308
synonym: "Periventricular Heterotopia associated with Chromosome 5p Anomalies" EXACT []
synonym: "PVNH3" EXACT []
xref: MESH:C564291
is_a: DOID:0050454 ! periventricular nodular heterotopia

[Term]
id: DOID:9005204
name: Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
alt_id: MESH:C565633
alt_id: MESH:C566717
alt_id: MIM:221900
synonym: "congenital detachment of retina" EXACT []
synonym: "NCRNA" EXACT []
synonym: "nonsyndromic congenital retinal nonattachment" EXACT []
synonym: "persistent fetal vasculature" EXACT []
synonym: "PHPVAR" EXACT []
synonym: "retinal nonattachment and falciform detachment" EXACT []
synonym: "RNANC" EXACT []
xref: MESH:C566966
is_a: DOID:0060282 ! persistent hyperplastic primary vitreous
is_a: DOID:5327 ! retinal detachment
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9005205
name: Hereditary Benign Intraepithelial Dyskeratosis
alt_id: MIM:127600
synonym: "DKBI" EXACT []
synonym: "HBID" EXACT []
xref: MESH:C562551
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9005206
name: Chromosome 21, Uniparental Disomy of
synonym: "Mosaic trisomy 21" EXACT []
synonym: "Uniparental disomy of 21" EXACT []
xref: MESH:C536794
xref: RDO:0002485
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:9005207
name: Nasopharyngeal Neoplasms
alt_id: RDO:0004305
def: "Tumors or cancer of the NASOPHARYNX." []
synonym: "Nasopharyngeal Neoplasm" EXACT []
synonym: "nasopharynx neoplasm" EXACT []
synonym: "nasopharynx neoplasms" EXACT []
xref: EFO:0004252
xref: MESH:D009303
is_a: DOID:9002346 ! Pharyngeal Neoplasms
is_a: DOID:9561 ! nasopharyngeal disease

[Term]
id: DOID:9005208
name: Tunglang Savage Bellman Syndrome
synonym: "Hearing loss and familial salivary gland insensitivity to aldosterone" EXACT []
synonym: "Hearing loss insensitivity to aldosterone" EXACT []
xref: MESH:C536927
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10854 ! salivary gland disease
is_a: DOID:225 ! syndrome
is_a: DOID:4479 ! pseudohypoaldosteronism

[Term]
id: DOID:9005209
name: Usher Syndrome Type 4
def: "This disease is an atypical form of Usher syndrome. It is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement." []
synonym: "ARSG-RELATED CONDITION" EXACT []
synonym: "USH4" EXACT []
synonym: "Usher syndrome type IV" EXACT []
xref: MIM:618144
is_a: DOID:0050439 ! Usher syndrome
created_by: mtutaj
creation_date: 2019-02-08T15:26:10Z

[Term]
id: DOID:9005210
name: Ingrown Nails
alt_id: RDO:0006179
def: "Excessive lateral nail growth into the nail fold. Because the lateral margin of the nail acts as a foreign body, inflammation and granulation may result. It is caused by improperly fitting shoes and by improper trimming of the nail." [MESH:D009263]
synonym: "Ingrown Nail" EXACT []
xref: MESH:D009263
is_a: DOID:4123 ! nail disease

[Term]
id: DOID:9005211
name: Pfeiffer Tietze Welte Syndrome
xref: MESH:C537891
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005212
name: Posterior Tibial Tendon Dysfunction
def: "A condition characterized by a broad range of progressive disorders ranging from TENOSYNOVITIS to tendon rupture with or without hindfoot collapse to a fixed, rigid, FLATFOOT deformity. Pathologic changes can involve associated tendons, ligaments, joint structures of the ANKLE, hindfoot, and midfoot. Posterior tibial tendon dysfunction is the most common cause of acquired flatfoot deformity in adults." [MESH:D037081]
synonym: "Posterior Tibial Tendon Insufficiency" EXACT []
synonym: "Tibialis Posterior Dysfunction" EXACT []
xref: MESH:D037081
xref: RDO:0007492
is_a: DOID:9007310 ! Foot Diseases

[Term]
id: DOID:9005213
name: Dysmyelinating Leukodystrophy with Oligodontia
synonym: "dentoleukoencephalopathy" EXACT []
xref: MESH:C564344
is_a: DOID:13714 ! anodontia
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases

[Term]
id: DOID:9005214
name: Anatomical Pathological Conditions
def: "An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases." []
synonym: "Anatomical Pathological Condition" EXACT []
xref: MESH:D020763
is_a: DOID:9000298 ! Pathological Conditions, Signs and Symptoms

[Term]
id: DOID:9005215
name: Hypochromic Microcytic Anemia with Iron Overload 1
alt_id: RDO:0015298
synonym: "AHMIO1" EXACT []
synonym: "ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1" EXACT []
synonym: "SLC11A2-RELATED CONDITION" EXACT []
xref: MIM:206100
is_a: DOID:8955 ! sideroblastic anemia
is_a: DOID:9001631 ! Hypochromic Microcytic Anemia with Iron Overload

[Term]
id: DOID:9005216
name: Infantile Hypercalcemia
xref: MESH:C562999
is_a: DOID:12678 ! hypercalcemia
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9005217
name: ALZAHRANI-KUWAHARA SYNDROME
def: "This disease is an autosomal recessive, neurodevelopmental syndrome characterized by global developmental delay with severely impaired intellectual function and poor or absent speech. Patients have poor overall growth and dysmorphic facial features." [MIM:619268]
synonym: "ALKUS" EXACT []
synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CATARACTS" EXACT []
xref: MIM:619268
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2021-05-11T13:04:55Z

[Term]
id: DOID:9005218
name: Boudhina Yedes Khiari syndrome
xref: MESH:C537939
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:37 ! skin disease
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9005219
name: Abnormal Reflexes
alt_id: MIM:145290
def: "An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes." [MESH:D012021]
synonym: "Abnormal Deep Tendon Reflex" EXACT []
synonym: "Abnormal Reflex" EXACT []
synonym: "Absent Reflex" EXACT []
synonym: "Bulbocavernousus Reflex Absent" EXACT []
synonym: "Decreased Bulbocavernosus Reflex" EXACT []
synonym: "Decreased Reflex" EXACT []
synonym: "Hoffman's Reflex" EXACT []
synonym: "HRX" EXACT []
synonym: "Hyperreflexia" EXACT []
synonym: "Hyporeflexia" EXACT []
synonym: "Moro Reflex, Asymmetric" EXACT []
synonym: "Palmo Mental Reflex" EXACT []
synonym: "Pendular Reflex" EXACT []
synonym: "Reflex, Acoustic, Abnormal" EXACT []
synonym: "Reflex, Anal, Absent" EXACT []
synonym: "Reflex, Anal, Decreased" EXACT []
synonym: "Reflex, Ankle, Abnormal" EXACT []
synonym: "Reflex, Ankle, Absent" EXACT []
synonym: "Reflex, Ankle, Decreased" EXACT []
synonym: "Reflex, Biceps, Abnormal" EXACT []
synonym: "Reflex, Biceps, Absent" EXACT []
synonym: "Reflex, Biceps, Decreased" EXACT []
synonym: "Reflex, Corneal, Absent" EXACT []
synonym: "Reflex, Corneal, Decreased" EXACT []
synonym: "Reflex, Deep Tendon, Absent" EXACT []
synonym: "Reflex, Gag, Absent" EXACT []
synonym: "Reflex, Gag, Decreased" EXACT []
synonym: "Reflex, Knee, Abnormal" EXACT []
synonym: "Reflex, Knee, Decreased" EXACT []
synonym: "Triceps Reflex, Abnormal" EXACT []
synonym: "Triceps Reflex, Absent" EXACT []
synonym: "Triceps Reflex, Decreased" EXACT []
xref: MESH:D012021
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9005220
name: Waterborne Diseases
def: "Illnesses due to micro-organisms and chemicals in drinking water, those caused by organisms having part of their lifecycle in water or those with water-related vectors, and others spread by aerosols containing pathogens." [MESH:D000069578]
synonym: "Waterborne Disease" EXACT []
synonym: "Water-related Disease" EXACT []
synonym: "Water related Diseases" EXACT []
xref: MESH:D000069578
is_a: DOID:0050117 ! disease by infectious agent

[Term]
id: DOID:9005221
name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1
synonym: "PFBMFT1" EXACT []
synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1" EXACT []
xref: EFO:1001501
xref: MIM:614742
is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related

[Term]
id: DOID:9005222
name: Absence of Vagina
synonym: "Vaginal agenesis" EXACT []
xref: MESH:C536523
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9005223
name: Ribose 5-Phosphate Isomerase Deficiency
synonym: "DEFICIENCY OF RIBOSE-5-PHOSPHATE ISOMERASE" EXACT []
synonym: "Ribose-5-P isomerase deficiency" EXACT []
xref: MESH:C563212
xref: MIM:608611
xref: MONDO:0012073
xref: ORDO:440706
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:9002704 ! Leukoencephalopathies

[Term]
id: DOID:9005225
name: Pigmentary Retinopathy and Sensorineural Deafness
xref: RDO:9000753
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:9005226
name: Coxa Vara
alt_id: MIM:122750
def: "Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." [MESH:D060905]
synonym: "Acquired Coxa Vara" EXACT []
synonym: "Acquired Coxa Varas" EXACT []
synonym: "Acquired Coxa Varus" EXACT []
synonym: "Congenital Coxa Vara" EXACT []
synonym: "Congenital Coxa Varas" EXACT []
synonym: "Congenital Coxa Varus" EXACT []
synonym: "Coxa Varas" EXACT []
synonym: "Coxa Varus" EXACT []
synonym: "Developmental Coxa Vara" EXACT []
synonym: "Developmental Coxa Varas" EXACT []
synonym: "Developmental Coxa Varus" EXACT []
synonym: "Infantile Coxa Vara" EXACT []
synonym: "Infantile Coxa Varas" EXACT []
xref: EFO:1001298
xref: MESH:D060905
is_a: DOID:9000114 ! Bone Anteversion

[Term]
id: DOID:9005227
name: Moraxellaceae Infections
alt_id: RDO:0004709
def: "Infections with bacteria of the family MORAXELLACEAE." [MESH:D045828]
synonym: "Moraxellaceae Infection" EXACT []
synonym: "Moraxellaceae infectious disease" EXACT []
synonym: "Moraxella Infection" EXACT []
synonym: "Moraxella Infections" EXACT []
synonym: "opportunistic Moraxellaceae infectious disease" EXACT []
synonym: "Psychobacter Infection" EXACT []
synonym: "Psychobacter Infections" EXACT []
xref: EFO:1001072
xref: MESH:D045828
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9005228
name: Musculoskeletal Pain
def: "Discomfort stemming from muscles, LIGAMENTS, tendons, and bones." [MESH:D059352]
synonym: "Musculoskeletal Pains" EXACT []
xref: MESH:D059352
xref: RDO:0010011
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9005230
name: Autosomal Dominant Deafness 4
alt_id: RDO:0012708
synonym: "DFNA4" EXACT []
xref: MESH:C563460
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness

[Term]
id: DOID:9005231
name: Self-Limited Delayed Puberty
def: "This is a disease characterized by delayed development of Tanner stage G2 accompanied by low serum gonadotropins. Affected individuals experience spontaneous attainment of Tanner stage G4 by 18 years of age, with normalization of gonadotropins, which excludes a diagnosis of hypogonadotropic hypogonadism." [MIM:619613]
synonym: "CONSTITUTIONAL DELAY OF PUBERTY" EXACT []
synonym: "DPSL" EXACT []
xref: MIM:619613
is_a: DOID:9001239 ! Delayed Puberty
created_by: slaulede
creation_date: 2022-02-04T11:09:18Z

[Term]
id: DOID:9005232
name: Reticular Dystrophy of Retinal Pigment Epithelium
alt_id: MIM:179840
xref: MESH:C566721
is_a: DOID:14252 ! dystrophies primarily involving the retinal pigment epithelium
is_a: DOID:8501 ! fundus dystrophy

[Term]
id: DOID:9005233
name: Experimental Mammary Neoplasms
def: "Experimentally induced mammary neoplasms in animals to provide a model for studying human BREAST NEOPLASMS." [MESH:D008325]
synonym: "Experimental Mammary Neoplasm" EXACT []
xref: MESH:D008325
is_a: DOID:9000403 ! Animal Mammary Neoplasms
is_a: DOID:9002170 ! Experimental Neoplasms

[Term]
id: DOID:9005234
name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27
def: "Characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation. Caused by homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32." [MIM:619566]
synonym: "LGMDR27" EXACT []
synonym: "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27" EXACT []
xref: MIM:619566
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy
created_by: mtutaj
creation_date: 2021-10-27T16:01:44Z

[Term]
id: DOID:9005236
name: Drug Eruptions
def: "Adverse cutaneous reactions caused by ingestion, parenteral use, or local application of a drug. These may assume various morphologic patterns and produce various types of lesions." [MESH:D003875]
synonym: "Dermatitis, Adverse Drug Reaction" EXACT []
synonym: "Dermatitis Medicamentosa" EXACT []
synonym: "Drug Eruption" EXACT []
synonym: "Maculopapular Drug Eruption" EXACT []
synonym: "Maculopapular Drug Eruptions" EXACT []
synonym: "Maculopapular Exanthem" EXACT []
synonym: "Maculopapular Exanthems" EXACT []
synonym: "Morbilliform Drug Reaction" EXACT []
synonym: "Morbilliform Drug Reactions" EXACT []
synonym: "Morbilliform Exanthem" EXACT []
synonym: "Morbilliform Exanthems" EXACT []
xref: MESH:D003875
is_a: DOID:0060500 ! drug allergy
is_a: DOID:2723 ! dermatitis

[Term]
id: DOID:9005237
name: Autoinflammation, Antibody Deficiency, and Immune Dysregulation, PLCG2-Associated
synonym: "APLAID" EXACT []
synonym: "autoinflammation, antibody deficiency, and immune dysregulation syndrome" EXACT []
xref: MIM:614878
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases

[Term]
id: DOID:9005238
name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
def: "This disease is an autosomal recessive disorder characterized by dysmorphic facies, ischiopubic hypoplasia, and moderate to severe global developmental delay. Affected individuals show episodic regression during periods of stress, including seizures or infection. Brain imaging shows diminished white matter volume, enlarged ventricles, and thin corpus callosum." [MIM:620210]
synonym: "NEDFIH" EXACT []
xref: MIM:620210
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2023-05-02T08:46:53Z

[Term]
id: DOID:9005241
name: Lewy Body Variant of Alzheimer's Disease
synonym: "Lewy Body Variant of Alzheimer Disease" EXACT []
xref: MESH:C565078
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:9005242
name: Progressive Encephalopathy with Amyotrophy and Optic Atrophy
def: "A severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. (OMIM)" []
synonym: "PEAMO" EXACT []
xref: MIM:617207
is_a: DOID:12377 ! spinal muscular atrophy
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9005850 ! Hereditary Optic Atrophies
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9005243
name: Membranous Subaortic Stenosis
alt_id: MIM:271950
xref: MESH:C564793
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:5804 ! discrete subaortic stenosis

[Term]
id: DOID:9005244
name: Vacuolar Neuromyopathy
alt_id: MIM:601846
synonym: "MDRV" EXACT []
synonym: "Muscular Dystrophy, Autosomal Dominant, With Rimmed Vacuoles" EXACT []
xref: MESH:C566617
xref: RDO:0014927
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9005245
name: Hyperimmunoglobulin G1(A1) Syndrome
alt_id: MIM:144120
xref: MESH:C564173
xref: RDO:0013220
is_a: DOID:225 ! syndrome
is_a: DOID:9005358 ! Hypergammaglobulinemia

[Term]
id: DOID:9005246
name: Paralysis
def: "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)" [MESH:D010243]
synonym: "Palsies" EXACT []
synonym: "Palsy" EXACT []
synonym: "Paralyses" EXACT []
synonym: "Plegia" EXACT []
synonym: "Plegias" EXACT []
synonym: "Todd's Paralysis" EXACT []
synonym: "Todd Paralysis" EXACT []
synonym: "Todds Paralysis" EXACT []
xref: EFO:1000631
xref: MESH:D010243
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9005247
name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 4
def: "An autosomal recessive neurologic disorder characterized by macrocephaly in infancy associated with developmental delay, delayed walking, variable cognitive decline, behavioral abnormalities, and early-onset seizures. Caused by homozygous mutation in the AQP4 gene on chromosome 18q11." [MIM:620448]
synonym: "Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting" EXACT []
synonym: "MLC4" EXACT []
xref: MIM:620448
is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts
created_by: mtutaj
creation_date: 2023-07-25T09:53:48Z

[Term]
id: DOID:9005249
name: Immunodeficiency 103
synonym: "CANDF2" EXACT []
synonym: "CARD9 IMMUNODEFICIENCY" EXACT []
synonym: "Familial Candidiasis 2" EXACT []
synonym: "IMD103" EXACT []
synonym: "Immunodeficiency 103, susceptibility to fungal infections" EXACT []
xref: MIM:212050
is_a: DOID:2058 ! chronic mucocutaneous candidiasis
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9005250
name: Groll Hirschowitz Syndrome
alt_id: MIM:221400
synonym: "Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy" EXACT []
xref: MESH:C537305
is_a: DOID:0060140 ! cortical deafness
is_a: DOID:225 ! syndrome
is_a: DOID:3213 ! demyelinating disease
is_a: DOID:9007346 ! Cachexia

[Term]
id: DOID:9005251
name: Anterior Spinal Artery Stroke
xref: MESH:C537776
is_a: DOID:9004922 ! Spinal Cord Ischemia

[Term]
id: DOID:9005252
name: Cellulite
def: "Skin lumpiness or skin surface dimpling often seen on the thighs, buttocks and abdomen. It is due to protrusion of SUBCUTANEOUS FAT into the DERMIS layer of skin." [MESH:D000071697]
synonym: "Cellulites" EXACT []
xref: MESH:D000071697
is_a: DOID:9007472 ! Skin Manifestations

[Term]
id: DOID:9005253
name: Hypernatremia
def: "Excessive amount of sodium in the blood. (Dorland, 27th ed)" [MESH:D006955]
synonym: "Hypernatremias" EXACT []
xref: MESH:D006955
is_a: DOID:9004004 ! Water-Electrolyte Imbalance

[Term]
id: DOID:9005254
name: Systemic Candidiasis
synonym: "Systemic candida infections" EXACT []
xref: MESH:C536777
is_a: DOID:0050136 ! systemic mycosis
is_a: DOID:1508 ! candidiasis

[Term]
id: DOID:9005255
name: Cranial Nerves, Recurrent Paresis of
alt_id: MIM:218200
xref: MESH:C565672
is_a: DOID:5656 ! cranial nerve disease

[Term]
id: DOID:9005256
name: Familial Atrial Fibrillation 18
synonym: "ATFB18" EXACT []
synonym: "MYL4-RELATED CONDITION" EXACT []
xref: MIM:617280
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9005257
name: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES
def: "This disease is an autosomal recessive disorder characterized by impaired skeletal muscle development, usually resulting in hypotonia and secondary joint contractures, and dysmorphic facial features. Features are apparent from birth." [MIM:620775]
synonym: "congenital neuromuscular disorder with dysmorphic facies" EXACT []
synonym: "NMDF" EXACT []
xref: MIM:620775
is_a: DOID:9001487 ! Facies
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulederkind
creation_date: 2024-05-28T12:58:47Z

[Term]
id: DOID:9005258
name: Friedreich Ataxia with Retained Reflexes
alt_id: RDO:0013542
xref: MESH:C564657
is_a: DOID:0111218 ! Friedreich ataxia 1

[Term]
id: DOID:9005259
name: Congenital Hypopituitarism with Central Diabetes Insipidus
alt_id: MIM:241540
xref: MESH:C565477
is_a: DOID:0081055 ! central diabetes insipidus
is_a: DOID:12388 ! neurohypophyseal diabetes insipidus
is_a: DOID:9406 ! hypopituitarism

[Term]
id: DOID:9005260
name: Meralgia Paraesthetica, Familial
alt_id: MIM:156220
xref: MESH:C563590
is_a: DOID:573 ! nerve compression syndrome

[Term]
id: DOID:9005261
name: Maternal Death
def: "The death of the female parent." [MESH:D063130]
synonym: "Maternal Deaths" EXACT []
xref: MESH:D063130
is_a: DOID:9000337 ! Parental Death
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9005262
name: Iridogoniodysgenesis and Skeletal Anomalies
alt_id: MIM:609515
xref: MESH:C535534
is_a: DOID:0050786 ! iridogoniodysgenesis syndrome
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9005263
name: Parietal Foramina with Cleidocranial Dysplasia
alt_id: MIM:168550
synonym: "PFMCCD" EXACT []
xref: MESH:C566825
is_a: DOID:0060285 ! parietal foramina
is_a: DOID:13994 ! cleidocranial dysplasia

[Term]
id: DOID:9005264
name: Peripheral Motor Neuropathy with Dysautonomia
alt_id: MIM:252320
synonym: "Lisker Garcia Ramos syndrome" EXACT []
synonym: "Peripheral motor neuropathy associated with autonomic dysfunction" EXACT []
xref: MESH:C536988
is_a: DOID:11465 ! autonomic nervous system disease

[Term]
id: DOID:9005265
name: Grubben de Cock Borghgraef Syndrome
xref: MESH:C537621
is_a: DOID:225 ! syndrome
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007356 ! Eczema
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9005266
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES
def: "This disease is characterized by skeletal anomalies, global developmental delay with delayed or absent walking, moderate to severely impaired intellectual development, and poor or absent speech acquisition." [MIM:620224]
synonym: "NEDFSS" EXACT []
xref: MIM:620224
xref: MONDO:0859365
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2023-08-28T13:34:37Z

[Term]
id: DOID:9005267
name: Potassium Deficiency
def: "A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed)" [MESH:D011191]
synonym: "Potassium Deficiencies" EXACT []
xref: EFO:1001120
xref: MESH:D011191
is_a: DOID:5113 ! nutritional deficiency disease

[Term]
id: DOID:9005268
name: dysphoria
def: "Dysphoria is a profound state of unease or dissatisfaction. In a psychiatric context, dysphoria may accompany depression, anxiety, or agitation. Common reactions to dysphoria include emotional distress or indifference." [EFO:0009867]
xref: EFO:0009867
is_a: DOID:150 ! disease of mental health
created_by: slaulede
creation_date: 2023-01-03T14:27:43Z

[Term]
id: DOID:9005269
name: Stable Angina
def: "Persistent and reproducible chest discomfort usually precipitated by a physical exertion that dissipates upon cessation of such an activity. The symptoms are manifestations of MYOCARDIAL ISCHEMIA." [MESH:D060050]
synonym: "Chronic Stable Angina" EXACT []
synonym: "Chronic Stable Anginas" EXACT []
synonym: "Stable Angina Pectori" EXACT []
synonym: "Stable Angina Pectoris" EXACT []
synonym: "Stable Anginas" EXACT []
xref: MESH:D060050
is_a: DOID:9000483 ! Angina Pectoris

[Term]
id: DOID:9005270
name: Glucocorticoid Deficiency 3
synonym: "Familial Glucocorticoid Deficiency 3" EXACT []
synonym: "FGD3" EXACT []
synonym: "GCCD3" EXACT []
xref: MESH:C563776
xref: MIM:609197
xref: MONDO:0012214
is_a: DOID:0080620 ! familial glucocorticoid deficiency
is_a: DOID:9008622 ! Adrenal Insufficiency

[Term]
id: DOID:9005274
name: Polyuria
def: "Urination of a large volume of urine with an increase in urinary frequency, commonly seen in diabetes (DIABETES MELLITUS; DIABETES INSIPIDUS)." [MESH:D011141]
synonym: "Polyurias" EXACT []
xref: MESH:D011141
is_a: DOID:9003919 ! Urination Disorders
is_a: DOID:9007629 ! Urological Manifestations

[Term]
id: DOID:9005275
name: Swine Vesicular Disease
def: "An enterovirus infection of swine clinically indistinguishable from FOOT-AND-MOUTH DISEASE, vesicular stomatitis, and VESICULAR EXANTHEMA OF SWINE. It is caused by a strain of HUMAN ENTEROVIRUS B." [MESH:D013555]
synonym: "Swine Vesicular Diseases" EXACT []
xref: MESH:D013555
is_a: DOID:9006549 ! Enterovirus Infections
is_a: DOID:9008435 ! Swine Diseases

[Term]
id: DOID:9005276
name: Achromatopsia Incomplete, X-Linked
xref: MESH:C538165
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:13911 ! achromatopsia

[Term]
id: DOID:9005279
name: Ichthyosis Tapered Fingers Midline Groove Up
alt_id: MIM:258840
synonym: "oral and digital anomalies with ichthyosis" EXACT []
synonym: "unusual facies, digital abnormalities, and ichthyosis" EXACT []
xref: MESH:C536272
is_a: DOID:1697 ! ichthyosis
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9005280
name: Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities
alt_id: MIM:608281
synonym: "Anomalous Pulmonary Venous Return, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities" EXACT []
xref: MESH:C564262
is_a: DOID:4297 ! scimitar syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005281
name: Emergencies
def: "Situations or conditions requiring immediate intervention to avoid serious adverse results." [MESH:D004630]
synonym: "Emergency" EXACT []
xref: MESH:D004630
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9005282
name: Branchioma
def: "A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)" [MESH:D001935]
synonym: "Branchial Cleft Cyst" EXACT []
synonym: "Branchial Cleft Cysts" EXACT []
synonym: "Branchial Cyst" EXACT []
synonym: "Branchial Cysts" EXACT []
synonym: "Branchiomas" EXACT []
xref: EFO:1001277
xref: MESH:D001935
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9005283
name: Abdominal Cystic Lymphangioma
alt_id: RDO:0000737
synonym: "Abdominal retroperitoneal lymphangioma" EXACT []
synonym: "Retroperitoneal cystic lymphangioma" EXACT []
xref: MESH:C535553
is_a: DOID:3081 ! cystic lymphangioma
is_a: DOID:9004476 ! Retroperitoneal Neoplasms

[Term]
id: DOID:9005284
name: Bacteroides Infections
def: "Infections with bacteria of the genus BACTEROIDES." [MESH:D001442]
synonym: "Bacteroides Infection" EXACT []
synonym: "Bacteroides infectious disease" EXACT []
xref: EFO:1000832
xref: MESH:D001442
xref: RDO:0004969
is_a: DOID:9002529 ! Bacteroidaceae Infections

[Term]
id: DOID:9005285
name: Osteochondromatosis
alt_id: OMIA:001214
def: "A condition marked by the presence of multiple osteochondromas. (Dorland, 27th ed)" [MESH:D018216]
synonym: "Osteochondromatoses" EXACT []
xref: MESH:D018216
is_a: DOID:9000685 ! Chondromatosis
is_a: DOID:9005193 ! Osteochondroma

[Term]
id: DOID:9005286
name: Reardon Hall Slaney syndrome
xref: MESH:C535294
xref: RDO:0000322
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005288
name: Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis
alt_id: MIM:612714
xref: MESH:C567195
is_a: DOID:13316 ! exocrine pancreatic insufficiency
is_a: DOID:1338 ! congenital dyserythropoietic anemia
is_a: DOID:9006600 ! Calvarial Hyperostosis

[Term]
id: DOID:9005289
name: Water Intoxication
def: "A condition resulting from the excessive retention of water with sodium depletion." [MESH:D014869]
xref: MESH:D014869
xref: RDO:0006820
is_a: DOID:9000046 ! Poisoning
is_a: DOID:9004004 ! Water-Electrolyte Imbalance

[Term]
id: DOID:9005290
name: Diabetes Mellitus, New-Onset after Transplantation
def: "A serious and common complication following solid organ transplantation. It is similar to type 2 diabetes mellitus, in that its pathophysiology involves insulin resistance." []
synonym: "new-onset diabetes after transplantation" EXACT []
synonym: "NODAT" EXACT []
synonym: "post-transplant diabetes mellitus" EXACT []
synonym: "posttransplant diabetes mellitus" EXACT []
synonym: "PTDM" EXACT []
xref: RDO:9000020
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9005291
name: Severe Infantile Axonal Neuropathy
xref: MESH:C537593
xref: RDO:0003462
is_a: DOID:1389 ! polyneuropathy

[Term]
id: DOID:9005292
name: Organophosphate Poisoning
def: "Poisoning due to exposure to ORGANOPHOSPHORUS COMPOUNDS, such as ORGANOPHOSPHATES; ORGANOTHIOPHOSPHATES; and ORGANOTHIOPHOSPHONATES." [MESH:D062025]
synonym: "Organophosphate Poisonings" EXACT []
synonym: "Organophosphorus Poisoning" EXACT []
synonym: "Organothiophosphate Poisoning" EXACT []
synonym: "Organothiophosphate Poisonings" EXACT []
synonym: "Organothiophosphonate Poisoning" EXACT []
synonym: "Organothiophosphonate Poisonings" EXACT []
xref: EFO:0010581
xref: MESH:D062025
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:9005293
name: Dentigerous Cyst
def: "Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation." [MESH:D003803]
synonym: "Dentigerous Cysts" EXACT []
xref: MESH:D003803
xref: RDO:0005339
is_a: DOID:9002504 ! Odontogenic Cysts

[Term]
id: DOID:9005294
name: Hydrothorax
def: "A collection of watery fluid in the pleural cavity. (Dorland, 27th ed)" [MESH:D006876]
xref: MESH:D006876
is_a: DOID:1532 ! pleural disease

[Term]
id: DOID:9005295
name: Viral Eye Infections
def: "Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus." [MESH:D015828]
synonym: "viral eye infection" EXACT []
synonym: "Viral Ocular Infection" EXACT []
synonym: "viral ocular infections" EXACT []
xref: MESH:D015828
is_a: DOID:9008201 ! Eye Infections
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9005296
name: Flea Infestations
def: "Parasitic attack by members of the order SIPHONAPTERA." [MESH:D058267]
synonym: "Flea Infestation" EXACT []
xref: MESH:D058267
is_a: DOID:4110 ! parasitic ectoparasitic infectious disease

[Term]
id: DOID:9005297
name: Immunodeficiency 117
def: "An autosomal recessive immunologic disorder characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood. Caused by homozygous mutation in the IRF1 gene on chromosome 5q31." [MIM:620668]
synonym: "IMD117" EXACT []
synonym: "Immunodeficiency 117, mycobacteriosis, autosomal recessive" EXACT []
xref: MIM:620668
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections
created_by: tutajm
creation_date: 2024-01-19T10:24:39Z

[Term]
id: DOID:9005298
name: heart transplant rejection
def: "This is a body's response in rejecting a heart transplant. The immune system sees the donor heart as a foreign object and mounts an attack of the donor heart." [EFO:0003046]
xref: EFO:0003046
is_a: DOID:9004283 ! Transplant Rejection
created_by: slaulede
creation_date: 2023-01-12T11:20:45Z

[Term]
id: DOID:9005299
name: Idiopathic Basal Ganglia Calcification 6
alt_id: RDO:9001373
synonym: "IBGC6" EXACT []
synonym: "XPR1-RELATED PRIMARY FAMILIAL BRAIN CALCIFICATION" EXACT []
xref: MIM:616413
is_a: DOID:0060230 ! basal ganglia calcification
is_a: DOID:1289 ! neurodegenerative disease

[Term]
id: DOID:9005301
name: Hydatidiform Mole, Recurrent, 3
def: "Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes. Recurrent hydatidiform mole-3 (HYDM3) is caused by homozygous or compound heterozygous mutation in the MEI1 gene on chromosome 22q13. (OMIM)" []
synonym: "HYDM3" EXACT []
xref: MIM:618431
is_a: DOID:9005147 ! Hydatidiform Mole
created_by: gthayman
creation_date: 2019-06-11T17:21:30Z

[Term]
id: DOID:9005302
name: Platelet-Type Bleeding Disorder 13
alt_id: MIM:614009
synonym: "BDPLT13" EXACT []
synonym: "Bleeding Disorder due to Defective Thromboxane A2 Receptor" EXACT []
synonym: "BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR" RELATED []
synonym: "IMPAIRED THROMBOXANE A2 AGONIST-INDUCED PLATELET AGGREGATION" EXACT []
synonym: "PLATELET-TYPE BLEEDING DISORDER 13, SUSCEPTIBILITY TO" RELATED []
xref: MESH:C566055
is_a: DOID:2218 ! blood platelet disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9005303
name: Grouped Pigmentation of the Macula
synonym: "Grouped Pigmentation of Retinal Pigment Epithelium" EXACT []
synonym: "Grouped Pigmentation of the Retina" EXACT []
xref: MESH:C565530
xref: MIM:233800
xref: MONDO:0009311
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:5679 ! retinal disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9005304
name: Fetal Membranes, Premature Rupture
def: "Spontaneous tearing of the membranes surrounding the FETUS any time before the onset of OBSTETRIC LABOR. Preterm PROM is membrane rupture before 37 weeks of GESTATION." [MESH:D005322]
synonym: "Membrane Premature Rupture (Pregnancy)" EXACT []
synonym: "Membrane Premature Ruptures (Pregnancy)" EXACT []
synonym: "Premature Rupture of Fetal Membranes" EXACT []
synonym: "Premature Rupture of Membrane (Pregnancy)" EXACT []
synonym: "PROM (Pregnancy)" EXACT []
xref: MESH:D005322
xref: RDO:0005206
is_a: DOID:9000610 ! Obstetric Labor Complications

[Term]
id: DOID:9005305
name: Muscular Dystrophy, Cardiac Type
alt_id: MIM:309930
alt_id: RDO:0012575
xref: MESH:C563247
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9005306
name: soft tissue disease
def: "This is a disease affecting tissues that connect, support, or surround other structures and organs of the body, not being hard tissue such as bone. Soft tissue includes tendons, ligaments, fascia, skin, fibrous tissues, fat, and synovial membranes (which are connective tissue), and muscles, nerves and blood vessels (which are not connective tissue)." [EFO:0009470]
synonym: "non-bone connective tissue disease" NARROW []
xref: EFO:0009470
is_a: DOID:7 ! disease of anatomical entity
created_by: slaulede
creation_date: 2023-02-03T17:10:15Z

[Term]
id: DOID:9005307
name: Bone Marrow Failure Syndrome 3
def: "An autosomal recessive disorder characterized by onset of pancytopenia in early childhood." []
synonym: "BMFS3" EXACT []
synonym: "DNAJC21-RELATED CONDITION" EXACT []
xref: MIM:617052
is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes
created_by: rgd
creation_date: 2016-09-06T00:00:00Z

[Term]
id: DOID:9005308
name: Hypercholesterolemia, Autosomal Dominant, 3
alt_id: MIM:603776
synonym: "familial hypercholesterolemia 3" EXACT []
synonym: "FH3" EXACT []
synonym: "FHCL3" EXACT []
synonym: "HCHOLA3" EXACT []
synonym: "PCSK9-RELATED DISORDER" EXACT []
xref: MESH:C566337
is_a: DOID:13810 ! familial hypercholesterolemia

[Term]
id: DOID:9005309
name: Congenital Methemoglobinemia
xref: MESH:C580280
xref: RDO:0015908
is_a: DOID:10783 ! methemoglobinemia

[Term]
id: DOID:9005312
name: Muscular Dystrophy, Hemizygous Lethal Type
alt_id: MIM:309950
alt_id: RDO:0013170
xref: MESH:C564097
is_a: DOID:11724 ! limb-girdle muscular dystrophy

[Term]
id: DOID:9005313
name: Palatal Neoplasms
def: "Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA." [MESH:D010157]
synonym: "Palatal Neoplasm" EXACT []
xref: EFO:0003849
xref: MESH:D010157
is_a: DOID:9004594 ! Jaw Neoplasms
is_a: DOID:9007364 ! Mouth Neoplasms

[Term]
id: DOID:9005315
name: Laterality Defects, Autosomal Dominant
alt_id: MIM:601086
xref: MESH:C563391
xref: RDO:0012658
is_a: DOID:0050545 ! visceral heterotaxy

[Term]
id: DOID:9005316
name: Radius Fractures
def: "Fractures of the RADIUS." [MESH:D011885]
synonym: "Radius Fracture" EXACT []
xref: EFO:0003957
xref: MESH:D011885
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9004279 ! Forearm Injuries

[Term]
id: DOID:9005317
name: Slavotinek Pike Mills Hurst Syndrome
xref: MESH:C536672
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:8927 ! learning disability
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9005318
name: Isolated Caroli Disease
alt_id: MIM:600643
synonym: "Congenital polycystic dilatation of intrahepatic bile ducts" EXACT []
synonym: "Cystic dilatation of the intrahepatic biliary tree" EXACT []
xref: MESH:C531647
is_a: DOID:0050876 ! Caroli disease

[Term]
id: DOID:9005319
name: Hemolytic Anemia due to Adenylate Kinase Deficiency
synonym: "ADENYLATE KINASE DEFICIENCY" EXACT []
xref: MESH:C567228
xref: MIM:612631
xref: MONDO:0012967
xref: ORDO:86817
is_a: DOID:583 ! hemolytic anemia

[Term]
id: DOID:9005320
name: Malignant Fever
synonym: "Fulminating hyperpyrexia" EXACT []
synonym: "Pharmacogenic myopathy" EXACT []
xref: MESH:C531737
is_a: DOID:8545 ! malignant hyperthermia

[Term]
id: DOID:9005322
name: Kuster Majewski Hammerstein Syndrome
synonym: "Alopecia, macular degeneration, and growth retardation" EXACT []
synonym: "Alopecia macular degeneration growth retardation" EXACT []
xref: MESH:C538125
is_a: DOID:225 ! syndrome
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9005323
name: Out-of-Hospital Cardiac Arrest
def: "Occurrence of heart arrest in an individual when there is no immediate access to medical personnel or equipment." [MESH:D058687]
synonym: "Out-of-Hospital Cardiac Arrests" EXACT []
synonym: "Out of Hospital Heart Arrest" EXACT []
synonym: "Out-of-Hospital Heart Arrests" EXACT []
xref: MESH:D058687
is_a: DOID:0060319 ! cardiac arrest

[Term]
id: DOID:9005326
name: Calcifying Odontogenic Cyst
def: "A mixed radiolucent-radiopaque lesion of the jaws with features of both a cyst and a solid neoplasm. It is characterized microscopically by an epithelial lining showing a palisaded layer of columnar basal cells, presence of ghost cell keratinization, dentinoid, and calcification. (Stedman, 25th ed)" [MESH:D018333]
synonym: "Calcifying Odontogenic Cysts" EXACT []
xref: MESH:D018333
is_a: DOID:9002504 ! Odontogenic Cysts
is_a: DOID:9006134 ! Odontogenic Tumors

[Term]
id: DOID:9005328
name: Glycogen Storage Disease XIII
alt_id: MIM:612932
synonym: "Enolase 3 Deficiency" EXACT []
synonym: "Enolase-Beta Deficiency" EXACT []
synonym: "GSD13" EXACT []
synonym: "GSD XIII" EXACT []
xref: MESH:C567861
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:9005329
name: Preaxial Polydactyly
def: "Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. (OMIM)" []
xref: MIM:PS174400
is_a: DOID:1148 ! polydactyly
created_by: mtutaj
creation_date: 2019-07-03T15:01:50Z

[Term]
id: DOID:9005330
name: Virilism
def: "Development of male secondary SEX CHARACTERISTICS in the FEMALE. It is due to the effects of androgenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs." [MESH:D014770]
synonym: "Androgenization" EXACT []
synonym: "Virilization" EXACT []
xref: MESH:D014770
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9005331
name: Severe Recurrent Varicella
alt_id: MIM:600670
xref: MESH:C563458
is_a: DOID:8659 ! chickenpox

[Term]
id: DOID:9005332
name: Spontaneous Coronary Artery Dissection
alt_id: MIM:122455
synonym: "idiopathic SCAD" EXACT []
synonym: "idiopathic spontaneous coronary artery dissection" EXACT []
xref: EFO:0010820
xref: MESH:C565153
xref: NCI:C165532
xref: ORDO:458718
is_a: DOID:178 ! vascular disease
is_a: DOID:9000018 ! Coronary Vessel Anomalies

[Term]
id: DOID:9005333
name: Adams-Oliver Syndrome 6
synonym: "AOS6" EXACT []
synonym: "DLL4-RELATED CONDITION" EXACT []
xref: MIM:616589
xref: MONDO:0014703
is_a: DOID:0060227 ! Adams-Oliver syndrome
created_by: rgd
creation_date: 2015-11-10T00:00:00Z

[Term]
id: DOID:9005334
name: Radicular Cyst
def: "Slow-growing fluid-filled epithelial sac at the apex of a tooth with a nonvital pulp or defective root canal filling." [MESH:D011842]
synonym: "Apical Periodontal Cyst" EXACT []
synonym: "Apical Periodontal Cysts" EXACT []
synonym: "Periapical Cyst" EXACT []
synonym: "Periapical Cysts" EXACT []
synonym: "Radicular Cysts" EXACT []
xref: MESH:D011842
xref: RDO:0006453
is_a: DOID:9000226 ! Periodontal Cyst
is_a: DOID:9002699 ! Periapical Diseases

[Term]
id: DOID:9005335
name: Cerebral Visual Impairment and Intellectual Disability
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9000343 ! Vision Disorders
created_by: rgd
creation_date: 2016-04-13T00:00:00Z

[Term]
id: DOID:9005336
name: Familial Focal Alopecia
alt_id: MIM:104110
xref: MESH:C566301
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9005337
name: Needlestick Injuries
def: "Penetrating stab wounds caused by needles. They are of special concern to health care workers since such injuries put them at risk for developing infectious disease." [MESH:D016602]
synonym: "Needle-Stick" EXACT []
synonym: "Needlestick" EXACT []
synonym: "Needle Stick Injuries" EXACT []
synonym: "Needle-Stick Injury" EXACT []
synonym: "Needlestick Injury" EXACT []
synonym: "Needle Sticks" EXACT []
synonym: "Needlesticks" EXACT []
synonym: "Sharps Injuries" EXACT []
synonym: "Sharps Injury" EXACT []
xref: MESH:D016602
xref: RDO:0006979
is_a: DOID:9001113 ! Stab Wounds

[Term]
id: DOID:9005338
name: Isolated Microphthalmia with Coloboma 4
alt_id: MIM:251505
synonym: "MCOPCB4" EXACT []
synonym: "Microphthalmia With Colobomatous Cyst" EXACT []
xref: MESH:C565378
is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma

[Term]
id: DOID:9005339
name: Rhizomelic Dysplasia Patterson Lowry Type
alt_id: MIM:601438
synonym: "Patterson-Lowry rhizomelic dysplasia" EXACT []
synonym: "Patterson Lowry syndrome" EXACT []
xref: MESH:C537609
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9005340
name: Progressive Tubulointerstitial Nephropathy with Cholestatic Liver Disease
alt_id: MIM:602114
xref: MESH:C566573
is_a: DOID:1063 ! interstitial nephritis
is_a: DOID:1852 ! intrahepatic cholestasis

[Term]
id: DOID:9005341
name: Thanatophoric Dysplasia Glasgow Variant
alt_id: MIM:273680
alt_id: RDO:0002110
synonym: "Neonatally lethal short-limb skeletal dysplasia, glasgow type" EXACT []
xref: MESH:C536506
is_a: DOID:13481 ! thanatophoric dysplasia

[Term]
id: DOID:9005342
name: MacDermot Winter Syndrome
alt_id: MIM:247990
synonym: "Prominent glabella microcephaly hypogenitalism" EXACT []
xref: MESH:C537714
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9005343
name: Splenic Neoplasms
def: "Tumors or cancer of the SPLEEN." [MESH:D013160]
synonym: "spleen neoplasm" EXACT []
synonym: "spleen neoplasms" EXACT []
synonym: "splenic neoplasm" EXACT []
xref: MESH:D013160
is_a: DOID:2529 ! splenic disease
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:9005344
name: Combined Pituitary Hormone Deficiency 1
synonym: "combined or isolated pituitary hormone deficiency 1" EXACT []
synonym: "combined pituitary hormone deficiency, dominant/recessive" EXACT []
synonym: "CPHD1" EXACT []
xref: MESH:C567803
xref: MIM:613038
xref: MONDO:0024464
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9410 ! panhypopituitarism

[Term]
id: DOID:9005347
name: Spondyloocular Syndrome, Autosomal Recessive
synonym: "spondylo-ocular syndrome" EXACT []
synonym: "XYLT2-RELATED CONDITION" BROAD []
xref: MESH:C565285
xref: MIM:605822
xref: MONDO:0011604
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:5327 ! retinal detachment
is_a: DOID:83 ! cataract
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005349
name: Three M Syndrome 1
synonym: "3M1" EXACT []
synonym: "3M Syndrome 1" EXACT []
synonym: "CUL7-RELATED CONDITION" EXACT []
xref: MIM:273750
is_a: DOID:0060241 ! 3-M syndrome
created_by: mtutaj
creation_date: 2019-03-21T00:00:00Z

[Term]
id: DOID:9005351
name: Persistent Cloaca
def: "Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel. (HP)" []
synonym: "anal and urogenital canal fusion" EXACT []
synonym: "anal fusion" EXACT []
synonym: "cloaca malformation" EXACT []
is_a: DOID:9001471 ! Anorectal Malformations
created_by: rgd
creation_date: 2017-03-31T00:00:00Z

[Term]
id: DOID:9005352
name: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY
def: "An autosomal recessive disorder characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Caused by homozygous mutation in the TP73 gene on chromosome 1p36." [MIM:619466]
synonym: "CILD47" EXACT []
synonym: "Primary Ciliary Dyskinesia 47" EXACT []
synonym: "primary ciliary dyskinesia-47 and lissencephaly" EXACT []
xref: MIM:619466
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: mtutaj
creation_date: 2021-08-09T14:53:56Z

[Term]
id: DOID:9005353
name: Laplane Fontaine Lagardere Syndrome
alt_id: MIM:272450
synonym: "Familial syndesmodysplasic dwarfism" EXACT []
synonym: "Syndesmodysplasic Dwarfism" EXACT []
xref: MESH:C537869
is_a: DOID:0060564 ! spinal disease
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:381 ! arthropathy
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9005354
name: Hypoparathyroidism, Autosomal Recessive
xref: MESH:C564148
xref: RDO:0013201
is_a: DOID:11199 ! hypoparathyroidism

[Term]
id: DOID:9005355
name: Microdontia Hypodontia Short Stature
xref: MESH:C537553
xref: RDO:0003414
is_a: DOID:13714 ! anodontia
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005356
name: Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1
def: "This disease is characterized by poor overall growth with short stature, microcephaly, hypotonia, profound global developmental delay often with poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose." [MIM:619758]
synonym: "HIST1H4C-ASSOCIATED DISORDER" EXACT []
synonym: "TEBIVANED1" EXACT []
synonym: "Tessadori-van Haaften Neurodevelopmental Syndrome 1" EXACT []
synonym: "TEVANED1" EXACT []
xref: MIM:619758
is_a: DOID:10907 ! microcephaly
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008554 ! Tessadori-van Haaften Neurodevelopmental Syndrome
created_by: slaulede
creation_date: 2022-03-29T14:08:25Z

[Term]
id: DOID:9005357
name: Orofaciodigital Syndrome XV
alt_id: RDO:0016181
synonym: "OFD15" EXACT []
synonym: "OFDS XV" EXACT []
synonym: "ORAL-FACIAL-DIGITAL SYNDROME, TYPE XV" EXACT []
xref: MIM:617127
is_a: DOID:4501 ! orofaciodigital syndrome

[Term]
id: DOID:9005358
name: Hypergammaglobulinemia
alt_id: DOID:2959
def: "An excess of GAMMA-GLOBULINS in the serum due to chronic infections or PARAPROTEINEMIAS." []
synonym: "Hypergammaglobulinemia" EXACT []
synonym: "Hypergammaglobulinemias" EXACT []
synonym: "Hyperimmunoglobulinemia" EXACT []
synonym: "Hyperimmunoglobulinemias" EXACT []
xref: MESH:D006942
is_a: DOID:620 ! blood protein disease
is_a: DOID:9000071 ! Signs and Symptoms
is_a: DOID:9008463 ! Immunoproliferative Disorders

[Term]
id: DOID:9005359
name: Hereditary Thrombophilia
alt_id: RDO:0004609
synonym: "Factor VII Marburg I Variant Thrombophilia" NARROW []
xref: MESH:C540694
is_a: DOID:2452 ! thrombophilia

[Term]
id: DOID:9005360
name: Duane Retraction Syndrome 3
synonym: "Duane retraction syndrome 3 with or without deafness" EXACT []
synonym: "Duane retraction syndrome type 3" EXACT []
synonym: "Duane syndrome type 3" EXACT []
synonym: "DURS3" EXACT []
synonym: "MAFB-RELATED CONDITION" BROAD []
xref: MIM:617041
is_a: DOID:12557 ! Duane retraction syndrome
created_by: mtutaj
creation_date: 2020-03-02T08:48:50Z

[Term]
id: DOID:9005361
name: Summitt Syndrome
alt_id: MIM:272350
synonym: "recessive acrocephalosyndactyly with normal intelligence" EXACT []
synonym: "Summitt's acrocephalosyndactyly" EXACT []
xref: MESH:C538142
is_a: DOID:12960 ! acrocephalosyndactylia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9005362
name: Tracheobronchomegaly
alt_id: MIM:275300
def: "A rare and probably congenital condition characterized by great enlargement of the lumen of the trachea and the larger bronchi." [MESH:D014137]
synonym: "Congenital Tracheobronchomegalies" EXACT []
synonym: "Congenital Tracheobronchomegaly" EXACT []
synonym: "Mounier Kuhn Syndrome" EXACT []
synonym: "Tracheobronchomegalies" EXACT []
xref: MESH:D014137
is_a: DOID:1176 ! bronchial disease
is_a: DOID:3225 ! tracheal disease
is_a: DOID:9007870 ! Respiratory System Abnormalities

[Term]
id: DOID:9005365
name: Renal Hypodysplasia/Aplasia 4
def: "This disease is characterized by bilateral renal agenesis, with severely reduced to absent amniotic fluid during pregnancy. Caused by homozygous mutation in the GFRA1 gene on chromosome 10q25." [MIM:619887]
synonym: "RHDA4" EXACT []
xref: MIM:619887
is_a: DOID:14766 ! renal agenesis
created_by: mtutaj
creation_date: 2022-05-31T07:39:16Z

[Term]
id: DOID:9005366
name: Hyperphosphatemic Familial Tumoral Calcinosis 3
def: "A rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone. The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate." [MIM:617994]
synonym: "HFTC3" EXACT []
xref: EFO:0009384
xref: MIM:617994
is_a: DOID:0111063 ! hyperphosphatemic familial tumoral calcinosis
created_by: slaulede
creation_date: 2018-11-09T10:12:15Z

[Term]
id: DOID:9005367
name: Arachnodactyly
def: "An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes." [MESH:D054119]
synonym: "Arachnodactylies" EXACT []
xref: MESH:D054119
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9005368
name: Game Friedman Paradice Syndrome
synonym: "Hydrocephalus with associated malformations" EXACT []
xref: MESH:C535406
xref: RDO:0000507
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005369
name: Hepatomegaly
def: "Enlargement of the liver." [MESH:D006529]
synonym: "Enlarged Liver" EXACT []
xref: MESH:D006529
is_a: DOID:409 ! liver disease
is_a: DOID:9000040 ! Hypertrophy

[Term]
id: DOID:9005370
name: Post-Dural Puncture Headache
def: "A secondary headache disorder attributed to low CEREBROSPINAL FLUID pressure caused by SPINAL PUNCTURE, usually after dural or lumbar puncture." [MESH:D051299]
synonym: "Postdural Puncture Headache" EXACT []
synonym: "Post-Dural Puncture Headaches" EXACT []
synonym: "Postdural Puncture Headaches" EXACT []
synonym: "Post-Lumbar Puncture Headache" EXACT []
xref: MESH:D051299
xref: RDO:0007579
is_a: DOID:9005633 ! Headache Disorders, Secondary

[Term]
id: DOID:9005371
name: Hydrocolpos
def: "A fluid-filled VAGINA that is obstructed." [MESH:D052202]
xref: MESH:D052202
is_a: DOID:121 ! vaginal disease

[Term]
id: DOID:9005372
name: Inflammation
def: "A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function." [MESH:D007249]
synonym: "acute inflammation" NARROW []
synonym: "chronic inflammation" NARROW []
synonym: "Inflammations" EXACT []
synonym: "inflammatory disease" EXACT []
xref: EFO:0003838
xref: EFO:0009903
xref: MESH:D007249
is_a: DOID:9003859 ! Immune & Inflammatory Diseases
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9005373
name: Autosomal Dominant Tubulointerstitial Kidney Disease 4
alt_id: MIM:613092
synonym: "ADTKD4" EXACT []
synonym: "early-onset hyperuricemia, anemia, and progressive kidney failure" EXACT []
synonym: "familial juvenile hyperuricemic nephropathy 2" EXACT []
synonym: "HNFJ2" EXACT []
synonym: "REN-RELATED CONDITION" BROAD []
synonym: "REN-related kidney disease" EXACT []
xref: MESH:C567760
is_a: DOID:0060062 ! familial juvenile hyperuricemic nephropathy
is_a: DOID:1074 ! kidney failure
is_a: DOID:2355 ! anemia

[Term]
id: DOID:9005374
name: Diarrhea 13
def: "A disease characterized by neonatal onset of recurrent vomiting and chronic watery diarrhea, resulting in severe failure to thrive. Caused by homozygous mutation in the ACSL5 gene on chromosome 10q25." [MIM:620357]
synonym: "DIAR13" EXACT []
xref: MIM:620357
is_a: DOID:9007847 ! Infantile Diarrhea
created_by: mtutaj
creation_date: 2023-05-01T09:01:14Z

[Term]
id: DOID:9005375
name: Peste-des-Petits-Ruminants
def: "A highly fatal contagious disease of goats and sheep caused by PESTE-DES-PETITS-RUMINANTS VIRUS. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia." [MESH:D029021]
synonym: "Goat plague" EXACT []
synonym: "Ovine rinderpest" EXACT []
synonym: "peste des petits ruminants infectious disease" EXACT []
synonym: "PPR" EXACT []
synonym: "Pseudorinderpest" EXACT []
synonym: "Stomatitis-Pneumoenteritis Syndrome" EXACT []
xref: EFO:0007431
xref: MESH:D029021
is_a: DOID:9003860 ! Morbillivirus Infections
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9005376
name: Ophthalmoplegia, Familial Total, with Iris Transillumination
alt_id: MIM:165098
xref: MESH:C563499
is_a: DOID:539 ! ophthalmoplegia

[Term]
id: DOID:9005377
name: Complement Factor H Deficiency
alt_id: MIM:609814
synonym: "C3G1" EXACT []
synonym: "C3 glomerulopathy 1" EXACT []
synonym: "CFHD" EXACT []
synonym: "CFH Deficiency" EXACT []
synonym: "Factor H Deficiency" EXACT []
xref: MESH:C562875
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9005378
name: AREDYLD Syndrome
alt_id: MIM:207780
synonym: "Acral renal ectodermal dysplasia lipoatrophic diabetes" EXACT []
synonym: "Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes" EXACT []
synonym: "AREDYLD" EXACT []
xref: MESH:C537427
is_a: DOID:11712 ! lipoatrophic diabetes mellitus
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9005379
name: Bilateral Kienbock's Disease
xref: MESH:C538558
xref: RDO:0004500
is_a: DOID:10159 ! osteonecrosis

[Term]
id: DOID:9005380
name: Chromosome 22 Ring
xref: MESH:C536795
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9005381
name: Kozlowski Ouvrier Syndrome
synonym: "Agenesis of the corpus callosum with mental retardation and osseous lesions" EXACT []
xref: MESH:C537508
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9001999 ! Agenesis of Corpus Callosum

[Term]
id: DOID:9005382
name: X-Linked Acute Leukemia
alt_id: MIM:308960
xref: MESH:C564112
is_a: DOID:12603 ! acute leukemia

[Term]
id: DOID:9005383
name: Davenport Donlan Syndrome
alt_id: RDO:0001384
synonym: "Dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis" EXACT []
xref: MESH:C535988
is_a: DOID:225 ! syndrome
is_a: DOID:2615 ! papilloma
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:9006836 ! Contracture
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9005384
name: Adult Cerebral Astrocytoma
alt_id: RDO:0000430
xref: MESH:C535354
is_a: DOID:3069 ! malignant astrocytoma
is_a: DOID:4848 ! cerebellar astrocytoma

[Term]
id: DOID:9005387
name: Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage
xref: MESH:C567272
is_a: DOID:4959 ! epidermolysis bullosa dystrophica

[Term]
id: DOID:9005388
name: Immune Reconstitution Inflammatory Syndrome
def: "Exuberant inflammatory response towards previously undiagnosed or incubating opportunistic pathogens. It is frequently seen in AIDS patients following HAART." [MESH:D054019]
synonym: "Immune Reconstitution Disease" EXACT []
synonym: "Immune Reconstitution Syndrome" EXACT []
synonym: "Immune Reconstitution Syndromes" EXACT []
synonym: "Immune Restoration Syndrome" EXACT []
xref: MESH:D054019
xref: RDO:0007642
is_a: DOID:225 ! syndrome
is_a: DOID:2914 ! immune system disease

[Term]
id: DOID:9005389
name: Oculocutaneous Albinism Type I, Temperature-Sensitive
synonym: "OCA1TS" EXACT []
synonym: "TYR-RELATED CONDITION" BROAD []
xref: MESH:C564645
is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism

[Term]
id: DOID:9005390
name: Dextro-Looped Transposition of the Great Arteries 2
synonym: "DTGA2" EXACT []
is_a: DOID:0060770 ! dextro-looped transposition of the great arteries

[Term]
id: DOID:9005391
name: Asthma, Short Stature, and Elevated IgA
alt_id: MIM:208600
xref: MESH:C565934
is_a: DOID:2841 ! asthma

[Term]
id: DOID:9005392
name: Familial Atrial Fibrillation 4
alt_id: MIM:611493
alt_id: RDO:0014652
synonym: "ATFB4" EXACT []
synonym: "KCNE2-RELATED DISORDER" BROAD []
xref: MESH:C566244
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9005393
name: Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy
synonym: "Alzheimer Disease, Early-Onset, with Cerebral Amyloid Angiopathy" EXACT []
xref: MESH:C566299
is_a: DOID:10652 ! Alzheimer's disease

[Term]
id: DOID:9005394
name: Papular Urticaria
synonym: "Bullous papular urticaria - type" EXACT []
xref: MESH:C537169
is_a: DOID:1555 ! urticaria
is_a: DOID:2731 ! vesiculobullous skin disease

[Term]
id: DOID:9005395
name: Deafness-Craniofacial Syndrome
alt_id: MIM:125230
xref: MESH:C565118
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9005396
name: Intimal Hyperplasia
def: "The process by which the cell population increases within the innermost layer of the arterial wall, occurring pathologically in pulmonary hypertension, atherosclerosis, after angioplasty, in transplanted organs, and in vein grafts." []
synonym: "neointimal hyperplasia" EXACT []
xref: EFO:0009652
is_a: DOID:9002221 ! Hyperplasia

[Term]
id: DOID:9005397
name: Diastasis Recti and Weakness of the Linea Alba
alt_id: MIM:612198
xref: MESH:C567402
is_a: DOID:0060889 ! prune belly syndrome

[Term]
id: DOID:9005398
name: Hammer Toe Syndrome
def: "A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe." [MESH:D037801]
synonym: "Claw Toe" EXACT []
synonym: "Clawtoe" EXACT []
synonym: "Claw Toes" EXACT []
synonym: "Clawtoes" EXACT []
synonym: "Hammer Toe" EXACT []
synonym: "Hammer Toes" EXACT []
synonym: "Hammertoe Syndrome" EXACT []
synonym: "Mallet Toe" EXACT []
synonym: "Mallet Toes" EXACT []
xref: EFO:1001336
xref: MESH:D037801
xref: RDO:0007493
is_a: DOID:225 ! syndrome
is_a: DOID:9003938 ! Foot Deformities

[Term]
id: DOID:9005399
name: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES
def: "This disease is characterized most often by motor and speech delay apparent from early childhood. Most patients have delayed walking and variably impaired intellectual development." [MIM:619694]
synonym: "DENBA" EXACT []
synonym: "LMBRD2-RELATED CONDITION" EXACT []
xref: MIM:619694
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2022-03-11T10:54:46Z

[Term]
id: DOID:9005401
name: Chromosome 8 Deletion
synonym: "Deletions of chromosome 8" EXACT []
xref: MESH:C537823
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9005402
name: Familial Cirrhosis with Pulmonary Hypertension
synonym: "Indian Childhood Cirrhosis" EXACT []
xref: MESH:C562580
is_a: DOID:6432 ! pulmonary hypertension
is_a: DOID:9007543 ! Familial Cirrhosis

[Term]
id: DOID:9005403
name: Retinol-Binding Protein Deficiency
synonym: "Familial Hypo-RBP" EXACT []
xref: MESH:C566711
xref: RDO:0014987
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9005404
name: Fractures, Comminuted
def: "A fracture in which the bone is splintered or crushed into a number of pieces." [MESH:D018460]
synonym: "Comminuted Fracture" EXACT []
xref: MESH:D018460
xref: RDO:0007206
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9005405
name: Primary Ciliary Dyskinesia 49
def: "An autosomal recessive disorder characterized by the onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance. Caused by compound heterozygous mutation in the CFAP74 gene on chromosome 1p36." [MIM:620197]
synonym: "CILD49" EXACT []
synonym: "primary ciliary dyskinesia-49 without situs inversus" EXACT []
xref: MIM:620197
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: mtutaj
creation_date: 2023-01-16T10:23:56Z

[Term]
id: DOID:9005406
name: Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth
alt_id: MIM:602340
xref: MESH:C566560
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9006052 ! Tooth Discoloration

[Term]
id: DOID:9005407
name: Ameloblastic Carcinoma
def: "This is a malignant neoplasm arising from tooth-forming tissues with-enamel organ differentiation, but without enamel formation. It is a cytologically malignant ameloblastoma that may metastasize." [NCI:C7492]
synonym: "odontoma, ameloblastic, malignant" EXACT []
xref: EFO:1000078
is_a: DOID:9001598 ! Odontoma
created_by: slaulede
creation_date: 2023-01-16T18:07:31Z

[Term]
id: DOID:9005409
name: Chromosome 10, Trisomy 10p
synonym: "Duplication 10p" EXACT []
synonym: "Trisomy 10p" EXACT []
xref: MESH:C538290
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9005410
name: Chromosome 22, Trisomy q11 q13
synonym: "Duplication 22q11 q13" EXACT []
synonym: "Trisomy 22q11 q13" EXACT []
xref: MESH:C536800
xref: RDO:0002491
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9005411
name: Complement Component C1r/C1s Deficiency
synonym: "C1r/C1s DEFICIENCY" EXACT []
xref: MIM:216950
is_a: DOID:626 ! complement deficiency

[Term]
id: DOID:9005412
name: Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder
xref: MESH:C564427
is_a: DOID:1094 ! attention deficit hyperactivity disorder
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005414
name: Macular Dystrophy, Fenestrated Sheen Type
alt_id: MIM:153890
xref: MESH:C563607
is_a: DOID:4448 ! macular degeneration

[Term]
id: DOID:9005415
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
def: "This disease is characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood." [MIM:619512]
synonym: "NEDHYBA" EXACT []
xref: MIM:619512
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:936 ! brain disease
created_by: slaulede
creation_date: 2021-10-21T13:14:40Z

[Term]
id: DOID:9005416
name: Synkinesis
def: "An involuntary movement accompanying a volitional movement. It often refers to facial movements that accompany FACIAL PARALYSIS." [MESH:D046608]
synonym: "Synkineses" EXACT []
xref: MESH:D046608
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9005417
name: Charcot-Marie-Tooth Disease, Dominant Intermediate 3
xref: MESH:C535401
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type

[Term]
id: DOID:9005418
name: Focal Facial Dermal Dysplasia 1
synonym: "Bitemporal aplasia cutis congenita" EXACT []
synonym: "Brauer syndrome" EXACT []
synonym: "FFDD1" EXACT []
synonym: "FFDD, type 1" EXACT []
synonym: "Focal facial dermal dysplasia 1, Brauer type" EXACT []
synonym: "Hereditary symmetrical aplastic nevi of temples" EXACT []
xref: MIM:136500
is_a: DOID:9000745 ! Focal Facial Dermal Dysplasia

[Term]
id: DOID:9005419
name: Moyamoya Disease 7
def: "A cerebrovascular disease that leads to strokes and neurologic deficits. Caused by heterozygous mutation in the ANO1 gene on chromosome 11q13." [MIM:620687]
synonym: "MYMY7" EXACT []
xref: MIM:620687
is_a: DOID:13099 ! Moyamoya disease
created_by: tutajm
creation_date: 2024-01-31T09:53:11Z

[Term]
id: DOID:9005420
name: Peripheral Arterial Occlusive Disease 1
alt_id: MIM:606787
synonym: "PAOD1" EXACT []
xref: MESH:C564658
xref: RDO:0013543
is_a: DOID:0050830 ! peripheral artery disease
is_a: DOID:9006474 ! Arterial Occlusive Diseases

[Term]
id: DOID:9005422
name: Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia
alt_id: MIM:601348
xref: MESH:C563344
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9005616 ! Micrognathism
is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital

[Term]
id: DOID:9005423
name: Aplasia Cutis Congenita with Intestinal Lymphangiectasia
alt_id: MIM:207731
synonym: "ACC with intestinal lymphangiectasia" EXACT []
synonym: "Aplasia Cutis Congenita, Intestinal Lymphangiectasia" EXACT []
xref: MESH:C537788
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9005821 ! Intestinal Lymphangiectasis

[Term]
id: DOID:9005424
name: Neoplasms by Site
def: "A collective term for precoordinated organ/neoplasm headings locating neoplasms by organ, as BRAIN NEOPLASMS; DUODENAL NEOPLASMS; LIVER NEOPLASMS; etc." [MESH:D009371]
synonym: "Neoplasms by Sites" EXACT []
synonym: "Neoplasm Site" EXACT []
synonym: "Neoplasm Sites" EXACT []
xref: MESH:D009371
is_a: DOID:14566 ! disease of cellular proliferation

[Term]
id: DOID:9005425
name: Microcornea Corectopia Macular Hypoplasia
xref: MESH:C537551
is_a: DOID:10629 ! microphthalmia

[Term]
id: DOID:9005426
name: Passovoy Factor
alt_id: MIM:168830
synonym: "Passovoy factor defect" EXACT []
xref: MESH:C566820
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:9005427
name: Necrolytic Migratory Erythema
def: "Recurrent cutaneous manifestation of GLUCAGONOMA characterized by necrolytic polycyclic migratory lesions with scaling borders. It is associated with elevated secretion of GLUCAGON by the tumor. Other conditions with elevated serum glucagon levels such as HEPATIC CIRRHOSIS may also result in similar skin lesions, which are referred to as pseudoglucagonoma syndrome." [MESH:D058568]
synonym: "necrolytic migratory erythemas" EXACT []
synonym: "pseudoglucagonoma syndrome" EXACT []
synonym: "pseudoglucagonoma syndromes" EXACT []
xref: MESH:D058568
is_a: DOID:37 ! skin disease
is_a: DOID:9007472 ! Skin Manifestations

[Term]
id: DOID:9005428
name: Polyosteolysis-Hyperostosis Syndrome
alt_id: MIM:610830
xref: MESH:C563658
is_a: DOID:205 ! hyperostosis
is_a: DOID:225 ! syndrome
is_a: DOID:9006081 ! Osteolysis

[Term]
id: DOID:9005429
name: Ramos Arroyo Clark Syndrome
alt_id: MIM:122430
synonym: "Corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation" EXACT []
synonym: "Ramos Arroyo Syndrome" EXACT []
xref: MESH:C535286
is_a: DOID:10124 ! corneal disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:13832 ! patent ductus arteriosus
is_a: DOID:225 ! syndrome
is_a: DOID:5679 ! retinal disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9005430
name: Proximal Myopathy with Focal Depletion of Mitochondria
alt_id: MIM:600706
xref: MESH:C563453
is_a: DOID:0080000 ! muscular disease
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9005431
name: Nasal Septal Perforation
def: "An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process." [MESH:D061270]
synonym: "Nasal Septal Perforations" EXACT []
synonym: "Nasal Septum Perforation" EXACT []
synonym: "Nasal Septum Perforations" EXACT []
xref: EFO:1001813
xref: MESH:D061270
xref: RDO:0010066
is_a: DOID:2825 ! nose disease
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9005432
name: Oncogenic Osteomalacia
synonym: "Tumor-induced osteomalacia" EXACT []
xref: MESH:C537751
is_a: DOID:9003944 ! Connective Tissue Neoplasms

[Term]
id: DOID:9005433
name: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY
def: "An autosomal recessive neurologic disorder characterized by global developmental delay apparent from early infancy, poor overall growth, impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume." [MIM:618890]
synonym: "NEDBASS" EXACT []
xref: MIM:618890
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006534 ! Nervous System Malformations
created_by: slaulede
creation_date: 2020-08-10T11:56:55Z

[Term]
id: DOID:9005434
name: Chromosome 2, Monosomy 2p22
synonym: "Deletion 2p22" EXACT []
synonym: "Monosomy 2p22" EXACT []
xref: MESH:C538313
xref: RDO:0004275
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9005435
name: Alpha-2-Macroglobulin Deficiency
alt_id: MIM:614036
synonym: "A2MD" EXACT []
xref: MESH:C566304
is_a: DOID:850 ! lung disease

[Term]
id: DOID:9005437
name: Cutaneous Tuberculosis
def: "Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." [MESH:D014382]
synonym: "cutaneous tuberculoses" EXACT []
synonym: "Scrofuloderma" EXACT []
synonym: "Scrofulodermas" EXACT []
synonym: "Skin Tuberculoses" EXACT []
synonym: "Skin Tuberculosis" EXACT []
synonym: "Tuberculid" EXACT []
synonym: "tuberculids" EXACT []
xref: EFO:1001443
xref: MESH:D014382
xref: MONDO:0021948
is_a: DOID:0050598 ! extrapulmonary tuberculosis
is_a: DOID:9003209 ! Bacterial Skin Diseases

[Term]
id: DOID:9005438
name: Leukemia L5178
def: "An experimental lymphocytic leukemia of mice." [MESH:D007940]
synonym: "Lymphoma L5178" EXACT []
xref: MESH:D007940
is_a: DOID:9004441 ! Experimental Leukemia

[Term]
id: DOID:9005439
name: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia
alt_id: MIM:610706
synonym: "Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia" EXACT []
synonym: "Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM)" EXACT []
synonym: "deafness with Lamm" EXACT []
synonym: "Lamm syndrome" EXACT []
xref: MESH:C565195
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9001502 ! Congenital Microtia
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9005440
name: Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures
synonym: "ICEGTC" EXACT []
xref: MESH:C564607
is_a: DOID:7725 ! epilepsy with generalized tonic-clonic seizures

[Term]
id: DOID:9005441
name: Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects
alt_id: MIM:609545
synonym: "Gershoni-Baruch Syndrome" EXACT []
xref: MESH:C563701
is_a: DOID:0060321 ! umbilical hernia
is_a: DOID:3827 ! congenital diaphragmatic hernia
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9005442
name: Basel-Vanagaite-Smirin-Yosef syndrome
alt_id: RDO:9001374
def: "An autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities. (OMIM)" []
synonym: "BVSYS" EXACT []
xref: MIM:616449
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:2339 ! Crouzon syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9005443
name: Galloway-Mowat Syndrome 8
def: "Galloway-Mowat syndrome-8 (GAMOS8) is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood. GAMOS8 is caused by homozygous mutation in the NUP133 gene on chromosome 1q42. Biallelic mutation in the NUP133 gene can also cause nephrotic syndrome type 18 (NPHS18)." [MIM:618349]
synonym: "GAMOS8" EXACT []
xref: MIM:618349
is_a: DOID:0080694 ! Galloway-Mowat syndrome
created_by: gthayman
creation_date: 2019-03-12T00:00:00Z

[Term]
id: DOID:9005444
name: Torsades de Pointes
alt_id: MIM:613600
def: "A malignant form of polymorphic ventricular tachycardia that is characterized by HEART RATE between 200 and 250 beats per minute, and QRS complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long QT intervals exceeding 500 milliseconds or BRADYCARDIA. Torsades de pointes may be self-limited or may progress to VENTRICULAR FIBRILLATION." [MESH:D016171]
synonym: "Torsade de Pointes" EXACT []
xref: EFO:0005307
xref: MESH:D016171
is_a: DOID:9005141 ! Ventricular Tachycardia

[Term]
id: DOID:9005445
name: Alopecia Areata 2
alt_id: MIM:610753
synonym: "AA2" EXACT []
xref: MESH:C565186
is_a: DOID:986 ! alopecia areata

[Term]
id: DOID:9005446
name: Mandibular Neoplasms
def: "Tumors or cancer of the MANDIBLE." []
synonym: "mandibular neoplasm" EXACT []
synonym: "neoplasm of mandible" EXACT []
xref: MESH:D008339
is_a: DOID:9004594 ! Jaw Neoplasms
is_a: DOID:9006309 ! Mandibular Diseases

[Term]
id: DOID:9005447
name: Hyperfunctioning Thyroid Adenoma
alt_id: RDO:0011984
synonym: "Thyroid Adenoma, Hyperfunctioning, Somatic" EXACT []
synonym: "Thyroid Carcinoma With Thyrotoxicosis" EXACT []
xref: MESH:C566386
is_a: DOID:13197 ! nodular goiter
is_a: DOID:7997 ! thyrotoxicosis

[Term]
id: DOID:9005448
name: Autosomal Recessive Dyskeratosis Congenita 8
def: "A disease characterized by progressive bone marrow failure affecting all lineages apparent from infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the DCLRE1B gene on chromosome 1p13." [MIM:620133]
synonym: "DKCB8" EXACT []
xref: MIM:620133
xref: MONDO:0859319
is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita
created_by: mtutaj
creation_date: 2022-11-29T07:56:14Z

[Term]
id: DOID:9005449
name: Ehlers-Danlos Syndrome Type 7
synonym: "EHLERS-DANLOS SYNDROME, PROCOLLAGEN PROTEINASE DEFICIENT" EXACT []
synonym: "Ehlers-Danlos Syndrome Type VII" EXACT []
xref: NCI:C125701
xref: RDO:9004306
is_a: DOID:13359 ! Ehlers-Danlos syndrome
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:9005450
name: Nocturnal Paroxysmal Dystonia
def: "A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" [MESH:D020183]
synonym: "Hypnogenic Paroxysmal Dystonia" EXACT []
synonym: "Hypnogenic Paroxysmal Dystonias" EXACT []
synonym: "Nocturnal Paroxysmal Dystonias" EXACT []
synonym: "Sleep Related Dystonia" EXACT []
synonym: "Sleep-Related Dystonias" EXACT []
xref: EFO:1001381
xref: MESH:D020183
xref: RDO:0007329
is_a: DOID:9004040 ! Parasomnias

[Term]
id: DOID:9005451
name: Deafness, Autosomal Dominant, due to Mutation In Myo1a
xref: MESH:C567266
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9005452
name: Ureteral Calculi
def: "Stones in the URETER that are formed in the KIDNEY. They are rarely more than 5 mm in diameter for larger renal stones cannot enter ureters. They are often lodged at the ureteral narrowing and can cause excruciating renal colic." [MESH:D014514]
synonym: "Ureteral Calculus" EXACT []
xref: MESH:D014514
is_a: DOID:14146 ! ureterolithiasis
is_a: DOID:9003311 ! Urinary Calculi

[Term]
id: DOID:9005453
name: Obesity and Hypopigmentation
def: "A disease characterized by early-onset severe obesity and hypopigmentation of the skin. Caused by a heterozygous chromosomal rearrangement resulting in ubiquitous expression of the ASIP gene on chromosome 20q11." [MIM:620195]
synonym: "OBHP" EXACT []
xref: MIM:620195
is_a: DOID:9005660 ! Hypopigmentation
is_a: DOID:9970 ! obesity
created_by: mtutaj
creation_date: 2023-01-16T10:12:35Z

[Term]
id: DOID:9005454
name: Biemond Syndrome II
alt_id: MIM:210350
synonym: "Biemond Syndrome Type 2" EXACT []
xref: MESH:C565902
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1148 ! polydactyly
is_a: DOID:12270 ! coloboma
is_a: DOID:1924 ! hypogonadism
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9005455
name: Salivary Duct Calculi
alt_id: MIM:181010
def: "Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts." [MESH:D012465]
synonym: "Parotid Duct Calculi" EXACT []
synonym: "Salivary Duct Calculus" EXACT []
synonym: "Salivary Duct Stone" EXACT []
synonym: "Salivary Duct Stones" EXACT []
synonym: "Sialolithiases, Ductal" EXACT []
synonym: "Sialolithiasis, Ductal" EXACT []
synonym: "Submandibular Duct Calculi" EXACT []
xref: MESH:D012465
is_a: DOID:9001730 ! Salivary Calculi

[Term]
id: DOID:9005456
name: spindle cell neoplasm
def: "This is a benign or malignant neoplasm characterized by the presence of neoplastic spindle cells." [NCI:C27263]
synonym: "spindle cell tumor" EXACT []
xref: EFO:0000705
xref: NCI:C21613
is_a: DOID:9002052 ! Neoplasms by Histologic Type
created_by: slaulede
creation_date: 2022-10-17T12:30:54Z

[Term]
id: DOID:9005457
name: Specific Language Impairment 2
synonym: "SLI2" EXACT []
xref: MIM:606712
is_a: DOID:0060244 ! specific language impairment

[Term]
id: DOID:9005458
name: Eccrine Syringofibroadenomatosis with Eyelid Abnormalities
xref: MESH:C566347
xref: RDO:0014726
is_a: DOID:530 ! eyelid disease
is_a: DOID:9006947 ! Fibroadenoma

[Term]
id: DOID:9005459
name: Dahlberg Borer Newcomer Syndrome
alt_id: MIM:247410
synonym: "hypoparathyroidism-lymphedema syndrome" EXACT []
xref: MESH:C535769
is_a: DOID:11199 ! hypoparathyroidism
is_a: DOID:225 ! syndrome
is_a: DOID:4977 ! lymphedema

[Term]
id: DOID:9005460
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS
def: "A disease that is characterized by axial hypotonia apparent from birth, global developmental delay with impaired intellectual development and poor or absent language acquisition, and behavioral abnormalities, including autistic features, poor social interaction, and hang-wringing. Most patients have childhood-onset seizures that are usually responsive to medication." [MIM:618760]
synonym: "NEDHAHM" EXACT []
xref: MIM:618760
is_a: DOID:12849 ! autistic disorder
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2020-03-17T10:25:41Z

[Term]
id: DOID:9005461
name: Ureaplasma Infections
def: "Infections with bacteria of the genus UREAPLASMA." [MESH:D016869]
synonym: "Ureaplasma Infection" EXACT []
xref: EFO:1001225
xref: MESH:D016869
is_a: DOID:9008587 ! Mycoplasmatales Infections

[Term]
id: DOID:9005462
name: Familial Basilar Migraine
alt_id: RDO:0014868
xref: MESH:C566540
is_a: DOID:6364 ! migraine

[Term]
id: DOID:9005463
name: Occupational Diseases
def: "Diseases caused by factors involved in one's employment." [MESH:D009784]
subset: RGD_JBrowse_slim
synonym: "Occupational Disease" EXACT []
synonym: "Occupational Illnesse" EXACT []
synonym: "Occupational Illnesses" EXACT []
xref: MESH:D009784
is_a: DOID:4 ! disease

[Term]
id: DOID:9005464
name: Developmental Delay, Language Impairment, and Ocular Abnormalities
def: "A disease characterized by delayed acquisition of skills particularly affecting speech and language development, although many patients show mild motor delay. Caused by heterozygous mutation in the ARPC4 gene on chromosome 3p25." [MIM:620141]
synonym: "DEVLO" EXACT []
xref: MIM:620141
is_a: DOID:9005466 ! Language Development Disorders
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008296 ! Eye Abnormalities
created_by: mtutaj
creation_date: 2022-12-05T08:33:31Z

[Term]
id: DOID:9005465
name: Renal Ischemia
def: "A hypoperfusion of the blood through the kidney caused by a pathologic constriction or obstruction of its blood vessels, or an absence of blood circulation." []
synonym: "kidney ischemia" EXACT []
is_a: DOID:326 ! ischemia
is_a: DOID:557 ! kidney disease
created_by: rgd
creation_date: 2017-08-29T00:00:00Z

[Term]
id: DOID:9005466
name: Language Development Disorders
def: "Conditions characterized by language abilities (comprehension and expression of speech and writing) that are below the expected level for a given age, generally in the absence of an intellectual impairment. These conditions may be associated with DEAFNESS; BRAIN DISEASES; MENTAL DISORDERS; or environmental factors." [MESH:D007805]
synonym: "Central Auditory Processing Disorder" EXACT []
synonym: "Developmental Disorder, Speech or Language" EXACT []
synonym: "Developmental Language Disorder" EXACT []
synonym: "developmental language disorders" EXACT []
synonym: "EXPRESSIVE LANGUAGE DELAY" NARROW []
synonym: "Language Delay" EXACT []
synonym: "Language Delays" EXACT []
synonym: "Language Development Disorder" EXACT []
synonym: "LANGUAGE RETARDATION" NARROW []
synonym: "Semantic Pragmatic Disorder" EXACT []
synonym: "Semantic-Pragmatic Disorders" EXACT []
synonym: "Speech Delay" EXACT []
synonym: "speech delays" EXACT []
xref: MESH:D007805
is_a: DOID:9008582 ! Developmental Disease
is_a: DOID:93 ! language disorder

[Term]
id: DOID:9005468
name: Brittle Cornea Syndrome
xref: MIM:PS229200
is_a: DOID:10124 ! corneal disease
is_a: DOID:13359 ! Ehlers-Danlos syndrome
is_a: DOID:9005077 ! Joint Instability
is_a: DOID:9008296 ! Eye Abnormalities
created_by: mtutaj
creation_date: 2020-08-23T15:06:49Z

[Term]
id: DOID:9005469
name: Capillary Malformation-Arteriovenous Malformation
synonym: "capillary malformation-arteriovenous malformation syndrome" EXACT []
synonym: "CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION" NARROW []
synonym: "CM-AVM" EXACT []
synonym: "CMAVM" EXACT []
xref: GARD:11904
xref: MESH:C564254
xref: MIM:PS608354
xref: MONDO:0012016
xref: ORDO:137667
is_a: DOID:11294 ! arteriovenous malformation
is_a: DOID:9001616 ! Port-Wine Stain

[Term]
id: DOID:9005470
name: Chromosome 14q, Partial Deletions
synonym: "Deletion 14q11" EXACT []
synonym: "Deletion 14q31" EXACT []
synonym: "Monosomy 14q11" EXACT []
synonym: "Monosomy 14q31" EXACT []
xref: MESH:C538031
xref: RDO:0003965
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9005471
name: Thiemann Disease
alt_id: MIM:165700
synonym: "Familial Osteoarthropathy of Fingers" EXACT []
synonym: "Thiemann's disease" EXACT []
synonym: "Thiemann epiphyseal disease" EXACT []
xref: MESH:C537144
is_a: DOID:8125 ! osteochondrosis

[Term]
id: DOID:9005472
name: hypopharyngeal squamous cell carcinoma
synonym: "epidermoid carcinoma of hypopharynx" EXACT []
synonym: "hypopharyngeal epidermoid carcinoma" EXACT []
synonym: "hypopharyngeal throat squamous cell cancer" EXACT []
synonym: "hypopharynx squamous cell carcinoma" EXACT []
xref: EFO:1001960
xref: NCI:C4043
is_a: DOID:0050921 ! pharynx squamous cell carcinoma
created_by: slaulede
creation_date: 2022-12-29T10:44:54Z

[Term]
id: DOID:9005473
name: Bacterial Eye Infections
alt_id: RDO:0005262
def: "Infections in the inner or external eye caused by microorganisms belonging to several families of bacteria. Some of the more common genera found are Haemophilus, Neisseria, Staphylococcus, Streptococcus, and Chlamydia." [MESH:D015818]
synonym: "Bacterial Eye Infection" EXACT []
synonym: "Bacterial Ocular Infection" EXACT []
synonym: "Bacterial Ocular Infections" EXACT []
xref: MESH:D015818
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:9008201 ! Eye Infections

[Term]
id: DOID:9005474
name: Experimental Sarcoma
def: "Experimentally induced neoplasms of CONNECTIVE TISSUE in animals to provide a model for studying human SARCOMA." [MESH:D012513]
synonym: "EHS Tumor" EXACT []
synonym: "Engelbreth-Holm-Swarm Sarcoma" EXACT []
synonym: "Experimental Sarcomas" EXACT []
synonym: "Jensen Sarcoma" EXACT []
xref: MESH:D012513
is_a: DOID:1115 ! sarcoma
is_a: DOID:9002170 ! Experimental Neoplasms

[Term]
id: DOID:9005476
name: Hamanishi Ueba Tsuji Syndrome
synonym: "Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy" EXACT []
xref: MESH:C535624
is_a: DOID:0050548 ! hereditary sensory neuropathy
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9005477
name: Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome
def: "An autosomal dominant disorder in which affected individuals present in childhood with reduced vision associated with papilledema and low-grade ocular inflammation. Patients also show anhidrosis, as well as splenomegaly and mild pancytopenia." []
synonym: "ALPK1-RELATED CONDITION" EXACT []
synonym: "ROSAH" EXACT []
synonym: "ROSAH SYNDROME" EXACT []
synonym: "splenomegaly, cytopenia, and vision loss" EXACT []
xref: MIM:614979
is_a: DOID:11156 ! anhidrosis
is_a: DOID:1891 ! optic nerve disease
is_a: DOID:225 ! syndrome
is_a: DOID:6364 ! migraine
is_a: DOID:8501 ! fundus dystrophy
is_a: DOID:9002720 ! Splenomegaly
created_by: mtutaj
creation_date: 2020-10-29T09:40:20Z

[Term]
id: DOID:9005478
name: Fried Goldberg Mundel Syndrome
xref: MESH:C535640
xref: RDO:0000875
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005479
name: Pallidopontonigral Degeneration
xref: MESH:C563003
xref: RDO:0012468
is_a: DOID:9255 ! frontotemporal dementia

[Term]
id: DOID:9005482
name: Microcephaly and Chorioretinopathy
synonym: "MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT INTELLECTUAL DISABILITY" EXACT []
xref: MIM:PS251270
is_a: DOID:10907 ! microcephaly
is_a: DOID:1417 ! choroid disease
is_a: DOID:225 ! syndrome
is_a: DOID:5679 ! retinal disease
is_a: DOID:9002525 ! Hereditary Eye Diseases
created_by: mtutaj
creation_date: 2019-03-28T07:56:35Z

[Term]
id: DOID:9005484
name: Van Der Woude Syndrome 1, Modifier of
synonym: "VWSM" EXACT []
xref: MIM:604547
xref: RDO:0008945
is_a: DOID:0060239 ! Van der Woude syndrome

[Term]
id: DOID:9005485
name: Generalized Epilepsy with Febrile Seizures Plus, Type 3
alt_id: RDO:0014353
synonym: "GABRG2-RELATED DISORDER" BROAD []
synonym: "GEFS+, TYPE 3" EXACT []
synonym: "GEFSP3" EXACT []
xref: MESH:C565811
is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus
is_a: DOID:0111298 ! familial febrile seizures 8

[Term]
id: DOID:9005486
name: Chromosome 7, Trisomy Mosaic
synonym: "Trisomy 7 mosaicism" EXACT []
synonym: "Uniparental disomy of 7" EXACT []
xref: MESH:C537822
xref: RDO:0003726
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:9005487
name: Candidiasis, Familial, 9
synonym: "CANDF9" EXACT []
synonym: "IL17RC-RELATED CONDITION" EXACT []
xref: MIM:616445
xref: RDO:9001382
is_a: DOID:2058 ! chronic mucocutaneous candidiasis

[Term]
id: DOID:9005488
name: Renal Tubular Dysgenesis with Choanal Atresia and Athelia
xref: MESH:C567491
is_a: DOID:9006137 ! Renal Tubular Dysgenesis
is_a: DOID:9574 ! choanal atresia

[Term]
id: DOID:9005489
name: Seizures, Cortical Blindness, and Microcephaly Syndrome
def: "A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, and cortical blindness. (OMIM)" []
synonym: "SCBMS" EXACT []
synonym: "seizures, cortical blindness, microcephaly syndrome" EXACT []
xref: MIM:616632
is_a: DOID:10907 ! microcephaly
is_a: DOID:11831 ! cortical blindness
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9005490
name: Chromosome 4, Trisomy 4q21
synonym: "Duplication 4q21" EXACT []
synonym: "Trisomy 4q21" EXACT []
xref: MESH:C537645
xref: RDO:0003521
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9005491
name: Ear Deformities, Acquired
def: "Distortion or disfigurement of the ear caused by disease or injury after birth." [MESH:D004426]
synonym: "Acquired Ear Deformity" EXACT []
xref: MESH:D004426
xref: RDO:0003508
is_a: DOID:2742 ! auditory system disease

[Term]
id: DOID:9005492
name: Marfan Lipodystrophy Syndrome
alt_id: RDO:9000356
def: "A syndrome characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. (OMIM)" []
synonym: "MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME" EXACT []
synonym: "MARFANOID-PROGEROID SYNDROME" EXACT []
synonym: "MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME" EXACT []
synonym: "MFLS" EXACT []
xref: MIM:616914
is_a: DOID:14323 ! Marfan syndrome
is_a: DOID:811 ! lipodystrophy
created_by: rgd
creation_date: 2016-05-19T00:00:00Z

[Term]
id: DOID:9005493
name: Anaplastic Meningioma
def: "This is a rare, fast-growing tumor that forms in one of the inner layers of the meninges (thin layers of tissue that cover and protect the brain and spinal cord). Malignant meningioma often spreads to other areas of the body." [NCI:C4051]
synonym: "Anaplastic (Malignant) Meningioma" EXACT []
synonym: "Malignant Meningioma" EXACT []
xref: EFO:1000082
xref: NCI:C124250
is_a: DOID:3565 ! meningioma
created_by: slaulede
creation_date: 2022-12-08T14:29:09Z

[Term]
id: DOID:9005494
name: X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features
def: "A neurologic disorder characterized by the onset of seizures usually in the first years of life, although later onset may also occur. Caused by hemizygous or heterozygous mutation in the GABRA3 gene on chromosome Xq28." [MIM:301091]
synonym: "EPILX2" EXACT []
xref: MIM:301091
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:150 ! disease of mental health
is_a: DOID:1826 ! epilepsy
is_a: DOID:8927 ! learning disability
created_by: mtutaj
creation_date: 2022-11-28T08:17:10Z

[Term]
id: DOID:9005495
name: Raindrop Hypopigmentation
alt_id: MIM:179500
xref: MESH:C566724
is_a: DOID:9005660 ! Hypopigmentation

[Term]
id: DOID:9005496
name: Diaphragmatic Hernia 1
xref: MESH:C564188
is_a: DOID:3827 ! congenital diaphragmatic hernia

[Term]
id: DOID:9005497
name: Lesch-Nyhan Syndrome, Neurologic Variant
synonym: "HPRT Deficiency, Neurologic Variant" EXACT []
synonym: "HPRT Montreal" RELATED []
xref: MESH:C564535
is_a: DOID:1919 ! Lesch-Nyhan syndrome

[Term]
id: DOID:9005498
name: Near Drowning
def: "Non-fatal immersion or submersion in water. The subject is resuscitable." [MESH:D015701]
synonym: "Near Drownings" EXACT []
xref: MESH:D015701
is_a: DOID:9000375 ! Drowning

[Term]
id: DOID:9005499
name: Chromosome 16p13.3 Deletion Syndrome
alt_id: MIM:610543
alt_id: RDO:0014786
synonym: "proximal chromosome 16p13.3 deletion syndrome" EXACT []
synonym: "RSTS, Severe" EXACT []
synonym: "Rubinstein-Taybi Syndrome, Severe" EXACT []
xref: MESH:C566433
is_a: DOID:1933 ! Rubinstein-Taybi syndrome

[Term]
id: DOID:9005501
name: Abnormal Cortical Gyration
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
created_by: rgd
creation_date: 2015-11-10T00:00:00Z

[Term]
id: DOID:9005502
name: Lattice Degeneration of Retina Leading to Retinal Detachment
alt_id: MIM:150500
xref: MESH:C563633
is_a: DOID:5327 ! retinal detachment
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:9005503
name: Disseminated Sclerosis with Narcolepsy
alt_id: MIM:223300
xref: MESH:C565621
is_a: DOID:2377 ! multiple sclerosis
is_a: DOID:8986 ! narcolepsy

[Term]
id: DOID:9005504
name: Dysprothrombinemia
xref: MESH:C562724
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:9005505
name: Idiopathic Erythema Nodosum
synonym: "Erythema nodosum of unknown etiology" EXACT []
xref: MESH:C535511
is_a: DOID:0080750 ! erythema nodosum

[Term]
id: DOID:9005506
name: 46, XY Female
synonym: "XY Female" EXACT []
xref: MESH:C536769
is_a: DOID:14448 ! 46,XY sex reversal

[Term]
id: DOID:9005507
name: Amyopathic Dermatomyositis
synonym: "clinically amyopathic dermatomyositis" EXACT []
xref: EFO:0008532
xref: MESH:C538250
is_a: DOID:10223 ! dermatomyositis

[Term]
id: DOID:9005508
name: Cephalin Lipidosis
alt_id: MIM:212800
xref: MESH:C565872
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:9005509
name: Renal Hypodysplasia/Aplasia 2
synonym: "RHDA2" EXACT []
xref: MIM:615721
xref: MONDO:0014319
is_a: DOID:14766 ! renal agenesis

[Term]
id: DOID:9005510
name: Hereditary Leiomyomatosis and Renal Cell Cancer
alt_id: MIM:150800
synonym: "Cutaneous leiomyomata with uterine leiomyomata" EXACT []
synonym: "FH-RELATED CONDITION" BROAD []
synonym: "HLRCC" EXACT []
synonym: "Leiomyoma, hereditary multiple, of skin" EXACT []
synonym: "LRCC" EXACT []
synonym: "MCL" EXACT []
synonym: "MCUL1" EXACT []
synonym: "Multiple cutaneous and uterine leiomyomata 1" EXACT []
synonym: "MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA" EXACT []
synonym: "Multiple cutaneous and uterine leiomyomatosis" EXACT []
synonym: "multiple cutaneous leiomyoma" EXACT []
synonym: "Reed's syndrome" EXACT []
xref: EFO:0000766
xref: MESH:C535516
xref: MONDO:0007888
xref: ORDO:523
is_a: DOID:5138 ! leiomyomatosis
is_a: DOID:9004268 ! Uterine Neoplasms
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:9005511
name: Chromosome 2, Monosomy 2pter p24
synonym: "Deletion 2pter p24" EXACT []
synonym: "Monosomy 2pter p24" EXACT []
xref: MESH:C538314
xref: RDO:0004276
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9005512
name: Paragangliomas 6
synonym: "PGL6" EXACT []
synonym: "pheochromocytoma/paraganglioma syndrome 6" EXACT []
synonym: "PPGL6" EXACT []
xref: MIM:618464
is_a: DOID:0050773 ! paraganglioma
created_by: mtutaj
creation_date: 2019-06-25T14:08:57Z

[Term]
id: DOID:9005513
name: Phacomatosis Pigmentokeratotica
xref: MESH:C537893
xref: RDO:0003805
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:9005120 ! Pigmented Nevus

[Term]
id: DOID:9005514
name: Diffuse Lewy Body Disease with Gaze Palsy
xref: MESH:C565077
xref: RDO:0013815
is_a: DOID:12217 ! Lewy body dementia
is_a: DOID:1279 ! ocular motility disease

[Term]
id: DOID:9005515
name: Therapy-related Acute Myeloid Leukemia
def: "A neoplastic disorder caused by cytotoxic cancer therapy (chemotherapy, immunotherapy, or radiotherapy) and arising from a multipotential hematopoietic stem cell." []
synonym: "t-AML" EXACT []
xref: NCI:C8252
xref: ORDO:86846
is_a: DOID:9119 ! acute myeloid leukemia
created_by: rgd
creation_date: 2016-02-10T00:00:00Z

[Term]
id: DOID:9005516
name: Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1
synonym: "IMNEPD1" EXACT []
xref: MIM:616263
is_a: DOID:9006461 ! Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease
created_by: rgd
creation_date: 2017-03-30T00:00:00Z

[Term]
id: DOID:9005517
name: Trichorhinophalangeal Syndrome
synonym: "trichorhinophalangeal syndromes" EXACT []
synonym: "TRICHORHINOPHALANGEAL SYNDROME TYPE I OR III" NARROW []
xref: MIM:PS190350
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
created_by: rgd
creation_date: 2017-12-12T00:00:00Z

[Term]
id: DOID:9005518
name: Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss
xref: MESH:C566373
is_a: DOID:10892 ! hypospadias
is_a: DOID:12270 ! coloboma
is_a: DOID:9003113 ! Hearing Loss, Mixed Conductive-Sensorineural
is_a: DOID:9003133 ! Hypertelorism

[Term]
id: DOID:9005519
name: Hyperlipoproteinemia Type II
alt_id: MIM:144010
def: "A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins)." [MESH:D006938]
synonym: "APOB-RELATED CONDITION" BROAD []
synonym: "APOB-RELATED DISORDER" BROAD []
synonym: "Autosomal Dominant Hypercholesterolemia" EXACT []
synonym: "autosomal dominant hypercholesterolemias" EXACT []
synonym: "Essential Hypercholesterolemia" EXACT []
synonym: "Essential Hypercholesterolemias" EXACT []
synonym: "Familial Combined Hyperlipoproteinemia" EXACT []
synonym: "Familial Combined Hyperlipoproteinemias" EXACT []
synonym: "Hyper beta Lipoproteinemia" EXACT []
synonym: "Hyperbetalipoproteinemia" EXACT []
synonym: "Hyper-beta-Lipoproteinemias" EXACT []
synonym: "Hyperbetalipoproteinemias" EXACT []
synonym: "Hypercholesterolemia, Autosomal Dominant, Type B" EXACT []
synonym: "HYPERCHOLESTEROLEMIA, FAMILIAL, 2" EXACT []
synonym: "Hyperlipoproteinemia Type 2" EXACT []
synonym: "Hyperlipoproteinemia Type IIa" EXACT []
synonym: "Hyperlipoproteinemia Type IIb" EXACT []
synonym: "Hyper Low Density Lipoproteinemia" EXACT []
synonym: "Hyper-Low Density Lipoproteinemias" EXACT []
synonym: "LDL Receptor Disorder" EXACT []
synonym: "LDL Receptor Disorders" EXACT []
synonym: "type IIa hyperlipoproteinemias" EXACT []
synonym: "type II Hyperlipoproteinemias" EXACT []
xref: MESH:D006938
xref: NCI:C123416
xref: NCI:C176014
is_a: DOID:9007571 ! Hyperlipoproteinemias

[Term]
id: DOID:9005520
name: Genitopatellar Syndrome
alt_id: MIM:606170
synonym: "Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation" EXACT []
synonym: "AUTOSOMAL DOMINANT KAT6B-RELATED DISORDERS" BROAD []
synonym: "GTPTS" EXACT []
synonym: "KAT6B-related spectrum disorder" BROAD []
synonym: "KAT6B-related spectrum disorders" BROAD []
xref: MESH:C565255
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005521
name: Chromosome Xq28 Duplication Syndrome
alt_id: MIM:300815
synonym: "Gdi1 Duplication Syndrome" EXACT []
xref: MESH:C567580
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9004151 ! Sex Chromosome Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005522
name: Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant
alt_id: MIM:609222
synonym: "ADDWOC" EXACT []
xref: MESH:C567185
is_a: DOID:2785 ! Dandy-Walker syndrome
is_a: DOID:9000983 ! Encephalocele

[Term]
id: DOID:9005523
name: Majeed Syndrome
synonym: "Chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis" EXACT []
synonym: "Chronic recurrent multifocal osteomyelitis, congenital" EXACT []
synonym: "Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, and Neutrophilic Dermatosis" EXACT []
synonym: "Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis" EXACT []
synonym: "CRMO1" EXACT []
synonym: "Dyserythropoietic anemia, and neutrophilic dermatosis" EXACT []
synonym: "MJDS" EXACT []
xref: GARD:10088
xref: MESH:C537839
xref: MIM:609628
xref: MONDO:0012316
xref: ORDO:77297
is_a: DOID:0060645 ! chronic recurrent multifocal osteomyelitis
is_a: DOID:1338 ! congenital dyserythropoietic anemia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9005525
name: X-Linked Thrombocytopenia, Intermittent
alt_id: RDO:0013146
xref: MESH:C564053
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:9005526
name: Pulmonary Edema of Mountaineers
alt_id: MIM:178400
synonym: "HAPE" EXACT []
synonym: "high altitude pulmonary edema" EXACT []
synonym: "High altitude pulmonary hypertension" EXACT []
xref: EFO:1002002
xref: MESH:C535833
is_a: DOID:11396 ! pulmonary edema
is_a: DOID:6432 ! pulmonary hypertension
is_a: DOID:9005785 ! Altitude Sickness

[Term]
id: DOID:9005527
name: No-Reflow Phenomenon
def: "Markedly reduced or absent REPERFUSION in an infarct zone following the removal of an obstruction or constriction of an artery." [MESH:D054318]
synonym: "Slow Flow Phenomenon" EXACT []
xref: MESH:D054318
xref: RDO:0007668
is_a: DOID:326 ! ischemia
is_a: DOID:5844 ! myocardial infarction

[Term]
id: DOID:9005528
name: Structural Heart Defects and Renal Anomalies Syndrome
synonym: "SHDRA" EXACT []
synonym: "TYPE I TRUNCUS ARTERIOSUS" RELATED []
xref: MIM:617478
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001611 ! Urogenital Abnormalities
created_by: rgd
creation_date: 2017-06-26T00:00:00Z

[Term]
id: DOID:9005529
name: Chronic Benign Proteinuria
def: "An autosomal recessive condition characterized by onset of isolated proteinuria in the first decade of life. The proteinuria is nonprogressive; affected individuals do not develop renal disease or impaired kidney function, and they do not have additional associated abnormalities." [MIM:618884]
synonym: "PROCHOB" EXACT []
xref: MIM:618884
is_a: DOID:576 ! proteinuria
created_by: slaulede
creation_date: 2020-08-13T13:04:05Z

[Term]
id: DOID:9005530
name: Craniosynostosis 5
synonym: "CRS5" EXACT []
synonym: "susceptibility to craniosynostosis-5" RELATED []
xref: MIM:615529
xref: RDO:9001110
is_a: DOID:2340 ! craniosynostosis
created_by: rgd
creation_date: 2015-07-01T00:00:00Z

[Term]
id: DOID:9005531
name: Congenital Disorder of Glycosylation Type IIv
def: "An autosomal recessive disorder characterized by neurodevelopmental delay and variable facial dysmorphisms. Caused by homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. (OMIM)" []
synonym: "CDG2V" EXACT []
synonym: "congenital disorder of glycosylation, type 2V" EXACT []
xref: MIM:619493
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
created_by: mtutaj
creation_date: 2021-08-26T11:35:17Z

[Term]
id: DOID:9005532
name: Muscle Weakness
def: "A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)" [MESH:D018908]
synonym: "Muscle Weaknesses" EXACT []
synonym: "Muscular Weakness" EXACT []
synonym: "Muscular Weaknesses" EXACT []
synonym: "PROGRESSIVE MUSCLE WEAKNESS" NARROW []
xref: MESH:D018908
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9000165 ! Neuromuscular Manifestations
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9005533
name: RETINITIS PIGMENTOSA 97
def: "This disease is characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity." [MIM:620422]
synonym: "RP97" EXACT []
xref: MIM:620422
is_a: DOID:10584 ! retinitis pigmentosa
created_by: slaulede
creation_date: 2023-07-21T10:40:55Z

[Term]
id: DOID:9005534
name: Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism
alt_id: MIM:254000
synonym: "Familial congenital muscular dystrophy with gonadal dysgenesis" EXACT []
xref: MESH:C537385
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:1924 ! hypogonadism
is_a: DOID:83 ! cataract

[Term]
id: DOID:9005535
name: Spontaneous Remission
def: "A spontaneous diminution or abatement of a disease over time, without formal treatment." [MESH:D012075]
synonym: "Spontaneous Remissions" EXACT []
xref: MESH:D012075
is_a: DOID:9000918 ! Disease Progression

[Term]
id: DOID:9005536
name: Blepharoptosis, Myopia, and Ectopia Lentis
alt_id: MIM:110150
synonym: "blepharoptosis, myopia, ectopia lentis" EXACT []
synonym: "Dominantly inherited blepharoptosis, high myopia, and ectopia lentis" EXACT []
xref: MESH:C536236
is_a: DOID:0060260 ! ptosis
is_a: DOID:11830 ! myopia
is_a: DOID:9004201 ! Ectopia Lentis

[Term]
id: DOID:9005538
name: Tetrasomy X
synonym: "48 XXXX" EXACT []
synonym: "48 XXXX syndrome" EXACT []
xref: MESH:C536502
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9003307 ! Sex Chromosome Aberrations
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005539
name: Familial Prostate Cancer
synonym: "hereditary prostate cancer" EXACT []
synonym: "prostate cancer susceptibility" RELATED []
xref: MESH:C537243
is_a: DOID:10283 ! prostate cancer

[Term]
id: DOID:9005541
name: Mental Retardation, Autosomal Recessive 53
def: "A neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients." [MIM:616917]
synonym: "EMM-NULL PHENOTYPE" RELATED []
synonym: "glycosylphosphatidylinositol biosynthesis defect 13" EXACT []
synonym: "GPIBD13" EXACT []
synonym: "intellectual developmental disorder, autosomal recessive 53" EXACT []
synonym: "MRT53" EXACT []
synonym: "NEDHSCA" EXACT []
synonym: "neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy" EXACT []
synonym: "PIGG-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
xref: MIM:616917
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency

[Term]
id: DOID:9005542
name: Ciliary Discoordination due to Random Ciliary Orientation
alt_id: MIM:215518
synonym: "Rutland ciliary disorientation syndrome" EXACT []
xref: MESH:C562757
is_a: DOID:9001591 ! Ciliary Motility Disorders

[Term]
id: DOID:9005543
name: Tel Hashomer Camptodactyly Syndrome
alt_id: MIM:211960
synonym: "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases" EXACT []
xref: MESH:C536953
is_a: DOID:0080000 ! muscular disease
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:225 ! syndrome
is_a: DOID:9004507 ! Hirsutism
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9005544
name: dopaminergic neuroblastoma
def: "This tumor is derived from immature nerve cells and associated with increased dopamine excretion." [DOID:769, EFO:0006391]
xref: EFO:0006391
is_a: DOID:769 ! neuroblastoma
created_by: slaulede
creation_date: 2023-01-20T13:56:22Z

[Term]
id: DOID:9005545
name: Reginato Schiapachasse Syndrome
xref: MESH:C535519
is_a: DOID:14283 ! primary hypertrophic osteoarthropathy
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9005546
name: Wellesley Carmen French Syndrome
alt_id: MIM:115645
synonym: "Cataract, Aberrant Oral Frenula, And Growth Retardation" EXACT []
synonym: "Cataracts, aberrant oral frenula, and growth retardation" EXACT []
xref: MESH:C536691
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9005547
name: Myoclonic Epilepsy of Lafora 1
synonym: "EPM2A" EXACT []
synonym: "Lafora disease 1" EXACT []
synonym: "MELF1" EXACT []
synonym: "progressive myoclonic epilepsy 2A" EXACT []
xref: MIM:254780
is_a: DOID:3534 ! Lafora disease
created_by: tutajm
creation_date: 2024-01-31T09:19:57Z

[Term]
id: DOID:9005548
name: Unknown Primary Neoplasms
def: "Metastases in which the tissue of origin is unknown." [MESH:D009382]
synonym: "Occult Primary Neoplasm" EXACT []
synonym: "occult primary neoplasms" EXACT []
synonym: "Unknown Primary Neoplasm" EXACT []
synonym: "Unknown Primary Neoplasm Metastasis" EXACT []
synonym: "Unknown Primary Tumor" EXACT []
synonym: "unknown primary tumors" EXACT []
xref: MESH:D009382
is_a: DOID:9000965 ! Neoplasm Metastasis

[Term]
id: DOID:9005549
name: Epithelioid Leiomyoma
alt_id: RDO:0007126
def: "A relatively rare smooth muscle tumor found most frequently in the wall of the gastrointestinal tract, especially in the stomach. It is similar to other smooth muscle tumors but may become very large and hemorrhage and exhibit small cystic areas. Simple excision is almost always curative. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)" [MESH:D018230]
synonym: "Epithelioid Leiomyomas" EXACT []
synonym: "Leiomyoblastoma" EXACT []
synonym: "Leiomyoblastomas" EXACT []
xref: EFO:1001356
xref: MESH:D018230
is_a: DOID:127 ! leiomyoma

[Term]
id: DOID:9005551
name: Cardiocranial Syndrome
alt_id: MIM:218450
synonym: "Pfeiffer cardiocranial syndrome" EXACT []
synonym: "Pfeiffer Singer Zschiesche syndrome" EXACT []
synonym: "Pfeiffer syndrome 2" EXACT []
synonym: "Pfeiffer-type cardiocranial syndrome" EXACT []
synonym: "sagittal craniostenosis with congenital heart disease, mental deficiency, and mandibular ankylosis" EXACT []
xref: MESH:C535578
is_a: DOID:12960 ! acrocephalosyndactylia
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9005552
name: Kallmann Syndrome 2 with Cleft Lip or Palate
xref: MESH:C563651
is_a: DOID:0090083 ! hypogonadotropic hypogonadism 2 with or without anosmia
is_a: DOID:674 ! cleft palate
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9005554
name: X Chromosome, Monosomy Xq28
synonym: "Deletion Xq28" EXACT []
synonym: "Monosomy Xq28" EXACT []
xref: MESH:C536755
xref: RDO:0002435
is_a: DOID:9003307 ! Sex Chromosome Aberrations
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9005555
name: Aortic Aneurysm, Familial Abdominal 3
alt_id: MIM:611891
alt_id: RDO:0009571
synonym: "Aaa3" EXACT []
xref: MESH:C567501
xref: RDO:0015561
is_a: DOID:7693 ! abdominal aortic aneurysm

[Term]
id: DOID:9005556
name: C1q Deficiency 1
def: "A C1q deficiency caused by homozygous mutation in the C1QA gene on chromosome 1p36." []
synonym: "C1QD1" EXACT []
xref: MIM:613652
is_a: DOID:9007516 ! C1q Deficiency
created_by: mtutaj
creation_date: 2023-04-14T08:48:27Z

[Term]
id: DOID:9005558
name: Gamma-A-Globulin, Defect in Assembly of
alt_id: MIM:137050
synonym: "IgA, Defect in Assembly of" EXACT []
synonym: "Immunoglobulin A, Defect in Assembly of" EXACT []
xref: MESH:C564991
is_a: DOID:0060025 ! immunoglobulin alpha deficiency

[Term]
id: DOID:9005559
name: Cystic Dilatation of Renal Collecting Tubes
xref: MESH:C531743
is_a: DOID:9002851 ! Medullary Sponge Kidney

[Term]
id: DOID:9005560
name: Congenital Hip Dislocation
def: "Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males." [MESH:D006618]
synonym: "CDH" EXACT []
synonym: "congenital dislocation of hip" EXACT []
synonym: "congenital dysplasia of the hip" EXACT []
synonym: "congenital hip dislocations" EXACT []
synonym: "congenital hip displacement" EXACT []
synonym: "congenital hip displacements" EXACT []
synonym: "congenital hip dysplasia" EXACT []
synonym: "congenital hip dysplasia, nonsyndromic" EXACT []
synonym: "congenital hip dysplasias" EXACT []
xref: EFO:1000648
xref: MESH:D006618
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9005561
name: Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence
alt_id: MIM:217980
alt_id: RDO:0012516
synonym: "Toriello-Carey Syndrome" EXACT []
xref: MESH:C563127
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005562
name: AIDS-Related Kaposi Sarcoma
alt_id: RDO:0009974
synonym: "HIV-associated cancer" BROAD []
xref: EFO:0009553
xref: MESH:C554498
xref: NCI:C3992
is_a: DOID:8632 ! Kaposi's sarcoma
is_a: DOID:9000571 ! AIDS-Related Opportunistic Infections

[Term]
id: DOID:9005563
name: Glomerulopathy with Giant Fibrillar Deposits
alt_id: MIM:137950
alt_id: MIM:601894
synonym: "Fibronectin glomerulopathy" EXACT []
synonym: "FN1-RELATED CONDITION" BROAD []
synonym: "GFND1" EXACT []
synonym: "GFND2" EXACT []
synonym: "Glomerular nephritis, familial, with fibronectin deposits" EXACT []
synonym: "GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1" EXACT []
synonym: "Glomerulopathy With Fibronectin Deposits 2" EXACT []
synonym: "LOBULAR GLOMERULOPATHY, FAMILIAL" EXACT []
xref: MESH:C536826
xref: MESH:C562900
xref: NCI:C187984
is_a: DOID:2920 ! membranoproliferative glomerulonephritis

[Term]
id: DOID:9005564
name: Hepatoblastoma Caused By Somatic Mutation
synonym: "Somatic Hepatoblastoma" EXACT []
xref: MESH:C567299
is_a: DOID:684 ! hepatocellular carcinoma

[Term]
id: DOID:9005565
name: Preconception Injuries
def: "Damages to reproductive health prior to conception (FERTILIZATION), a legal term for torts liability concerning environmental safety issues. Preconception injuries may involve either the male or the female, such as chromosomal mutations in the OVA or the SPERMATOZOA." [MESH:D047489]
synonym: "Preconception Injury" EXACT []
xref: MESH:D047489
xref: RDO:0007543
is_a: DOID:9001878 ! Disorders of Environmental Origin

[Term]
id: DOID:9005566
name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES
def: "This disease is an autosomal recessive disorder characterized by poor growth, large ears, and dysmorphic facies as well as hypotonia and global developmental delay with impaired intellectual development." [MIM:620194]
synonym: "NEDGEF" EXACT []
xref: MIM:620194
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006257 ! Growth Disorders
created_by: slaulede
creation_date: 2023-05-04T10:13:52Z

[Term]
id: DOID:9005568
name: Paradoxical Embolism
def: "Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE." [MESH:D019320]
synonym: "Crossed Embolism" EXACT []
synonym: "Crossed Embolisms" EXACT []
synonym: "Paradoxical Embolisms" EXACT []
xref: EFO:1001308
xref: MESH:D019320
is_a: DOID:9003121 ! Thromboembolism

[Term]
id: DOID:9005569
name: Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation
alt_id: MIM:209770
xref: MESH:C565923
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005570
name: Marshall/Stickler Syndrome
is_a: DOID:0080046 ! Stickler syndrome
is_a: DOID:0111510 ! Marshall syndrome

[Term]
id: DOID:9005571
name: primary pulmonary hypertension 6
def: "This disease is characterized by markedly elevated pulmonary arterial hypertension, associated with reduced oxygen saturation and diffuse ground-glass opacities on chest x-ray. Lung biopsy shows thickening of the alveolar septae and abnormally proliferating capillaries." [MIM:620777]
synonym: "PPH6" EXACT []
synonym: "Primary Pulmonary Hypertension, 6" EXACT []
synonym: "PULMONARY HYPERTENSION, PRIMARY, 6" EXACT []
xref: MIM:620777
is_a: DOID:14557 ! primary pulmonary hypertension
created_by: slaulederkind
creation_date: 2024-05-31T15:55:40Z

[Term]
id: DOID:9005572
name: Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
alt_id: MIM:113477
synonym: "BOD Syndrome" EXACT []
xref: MESH:C536242
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9005573
name: Prostate Cancer, Hereditary, 3
alt_id: MIM:608656
synonym: "HPC3" EXACT []
xref: MESH:C563883
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9005575
name: Bovine Hemorrhagic Syndrome
def: "Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (DIARRHEA VIRUS 2, BOVINE VIRAL). Outbreaks are characterized by high morbidity and high mortality." [MESH:D030243]
xref: MESH:D030243
is_a: DOID:9004723 ! Cattle Diseases
is_a: DOID:9008833 ! Pestivirus Infections

[Term]
id: DOID:9005576
name: Acquired Amegakaryocytic Thrombocytopenia
xref: MESH:C538172
is_a: DOID:11126 ! acquired thrombocytopenia
is_a: DOID:4961 ! bone marrow disease
is_a: DOID:9005876 ! Thrombocytopenic Purpura

[Term]
id: DOID:9005578
name: Hearing Loss, Unilateral Sensorineural
def: "Partial or complete hearing loss in one ear resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM." []
synonym: "USNHL" EXACT []
xref: RDO:9000068
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9001767 ! Unilateral Hearing Loss

[Term]
id: DOID:9005579
name: Immunodeficiency 105
def: "An autosomal recessive disorder characterized by onset of recurrent infections in early infancy. Caused by homozygous or compound heterozygous mutation in the the PTPRC gene on chromosome 1q31." [MIM:619924]
synonym: "IMD105" EXACT []
synonym: "Immunodeficiency 105, severe combined" EXACT []
xref: MIM:619924
xref: MONDO:0800104
is_a: DOID:0090014 ! severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
created_by: mtutaj
creation_date: 2022-07-05T12:23:59Z

[Term]
id: DOID:9005580
name: Moyamoya Disease 1
alt_id: MIM:252350
synonym: "MYMY1" EXACT []
synonym: "spontaneous occlusion of the circle of Willis" EXACT []
xref: MESH:C536991
is_a: DOID:13099 ! Moyamoya disease

[Term]
id: DOID:9005581
name: Autosomal Recessive Nonsyndromic Deafness 18
synonym: "Deafness, Autosomal Recessive 18" EXACT []
synonym: "DFNB18" EXACT []
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness

[Term]
id: DOID:9005582
name: Adrenal Cortex Neoplasms
alt_id: RDO:0004755
def: "Tumors or cancers of the ADRENAL CORTEX." [MESH:D000306]
synonym: "Adrenal Cortex Neoplasm" EXACT []
synonym: "adrenal cortical tumors" EXACT []
synonym: "Adrenal cortical tumor, somatic" EXACT []
synonym: "neoplasm of adrenal cortex" EXACT []
xref: MESH:D000306
is_a: DOID:3952 ! adrenal cortex disease
is_a: DOID:9000362 ! Adrenal Gland Neoplasms

[Term]
id: DOID:9005583
name: Ectopic Junctional Tachycardia
def: "A rare form of supraventricular tachycardia caused by automatic, not reentrant, conduction initiated from sites at the atrioventricular junction, but not the ATRIOVENTRICULAR NODE. It usually occurs during myocardial infarction, after heart surgery, or in digitalis intoxication with a HEART RATE ranging from 140 to 250 beats per minute." [MESH:D013613]
synonym: "Ectopic Junctional Tachycardias" EXACT []
xref: MESH:D013613
is_a: DOID:9000006 ! Supraventricular Tachycardia

[Term]
id: DOID:9005584
name: Hepatic Porphyrias
def: "A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues." []
synonym: "Hepatic Porphyria" EXACT []
xref: MESH:D017094
is_a: DOID:13268 ! porphyria
is_a: DOID:409 ! liver disease
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9005585
name: Cataract, Posterior Polar, 5
xref: MESH:C535340
is_a: DOID:83 ! cataract

[Term]
id: DOID:9005586
name: Synpolydactyly 1
alt_id: MIM:186000
synonym: "SDTY2" EXACT []
synonym: "SPD1" EXACT []
synonym: "SYNDACTYLY, TYPE II" EXACT []
synonym: "SYNPOLYDACTYLY TYPE 1" EXACT []
xref: MESH:C538153
xref: NCI:C75005
is_a: DOID:0060242 ! synpolydactyly

[Term]
id: DOID:9005587
name: Starvation
def: "Lengthy and continuous deprivation of food. (Stedman, 25th ed)" [MESH:D013217]
synonym: "Famine" EXACT []
synonym: "Famines" EXACT []
synonym: "Starvations" EXACT []
xref: MESH:D013217
is_a: DOID:9005695 ! Malnutrition

[Term]
id: DOID:9005588
name: Thyrocerebral-Retinal Syndrome
alt_id: MIM:274240
synonym: "Thyrocerebroretinal syndrome" EXACT []
xref: MESH:C536908
is_a: DOID:225 ! syndrome
is_a: DOID:50 ! thyroid gland disease
is_a: DOID:557 ! kidney disease
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9005589
name: AIDS Arteritis, Central Nervous System
def: "Inflammation of ARTERIES in the CENTRAL NERVOUS SYSTEM that occurs in patients with ACQUIRED IMMUNODEFICIENCY SYNDROME or AIDS-RELATED OPPORTUNISTIC INFECTIONS." [MESH:D020943]
synonym: "AIDS Associated Cerebral Aneurysmal Arteriopathy" EXACT []
synonym: "HIV-1-Associated CNS Vasculitides" EXACT []
synonym: "HIV 1 Associated CNS Vasculitis" EXACT []
synonym: "HIV-Associated CNS Vasculitides" EXACT []
synonym: "HIV-Associated CNS Vasculitis" EXACT []
synonym: "HIV Associated Vasculitis of the Central Nervous System" EXACT []
xref: EFO:0007198
xref: MESH:D020943
is_a: DOID:525 ! central nervous system vasculitis
is_a: DOID:635 ! acquired immunodeficiency syndrome
is_a: DOID:9002564 ! Arteritis

[Term]
id: DOID:9005590
name: Lymphatic Malformation 14
def: "An autosomal dominant disorder characterized by primary lymphedema. Caused by heterozygous mutation in the ERG gene on chromosome 21q22." [MIM:620602]
synonym: "LMPHM14" EXACT []
xref: MIM:620602
is_a: DOID:0050580 ! hereditary lymphedema
created_by: tutajm
creation_date: 2023-12-04T12:07:34Z

[Term]
id: DOID:9005591
name: Potato Nose
alt_id: MIM:164000
synonym: "anomalous shape of nose" EXACT []
xref: MESH:C538354
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005592
name: Testicular Teratoma
xref: EFO:1000573
xref: MESH:C562472
xref: NCI:C128123
xref: NCI:C3877
is_a: DOID:3307 ! teratoma
is_a: DOID:9004207 ! Testicular Neoplasms

[Term]
id: DOID:9005593
name: Crystal Arthropathies
def: "Joint disorders that are characterized by accumulation of microcrystals in and around the joint including in the SYNOVIAL FLUID. They are classified according to the chemical nature of the crystals such as CALCIUM PYROPHOSPHATE; basic CALCIUM PHOSPHATES; and monosodium urate (see URIC ACID)." [MESH:D000070657]
synonym: "Crystal Arthritides" EXACT []
synonym: "Crystal Arthritis" EXACT []
synonym: "Crystal Arthropathy" EXACT []
synonym: "Crystalline Arthritides" EXACT []
synonym: "Crystalline Arthritis" EXACT []
synonym: "Crystalline Arthropathies" EXACT []
synonym: "Crystalline Arthropathy" EXACT []
xref: MESH:D000070657
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:9005594
name: Camptodactyly Syndrome Guadalajara Type 1
alt_id: MIM:211910
synonym: "Camptodactyly Syndrome, Guadalajara, Type I" EXACT []
synonym: "facio-thoraco-skeletal syndrome" EXACT []
synonym: "faciothoracoskeletal syndrome" EXACT []
synonym: "FTSS" EXACT []
synonym: "GCS1" EXACT []
synonym: "Guadalajara camptodactyly syndrome" EXACT []
xref: GARD:1067
xref: MESH:C537970
is_a: DOID:9008935 ! Camptodactyly Syndrome Guadalajara Type

[Term]
id: DOID:9005596
name: Corneal Wavefront Aberration
def: "Asymmetries in the topography and refractive index of the corneal surface that affect visual acuity." [MESH:D057108]
synonym: "Corneal Wavefront Aberrations" EXACT []
xref: MESH:D057108
is_a: DOID:10124 ! corneal disease
is_a: DOID:9835 ! refractive error

[Term]
id: DOID:9005597
name: Lumpy Skin Disease
def: "A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin." [MESH:D008166]
synonym: "Lumpy Skin Diseases" EXACT []
xref: EFO:0007349
xref: MESH:D008166
is_a: DOID:8729 ! milker's nodule
is_a: DOID:9004723 ! Cattle Diseases

[Term]
id: DOID:9005598
name: Malignant Carcinoid Syndrome
def: "A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)" [MESH:D008303]
synonym: "Malignant Carcinoid Syndromes" EXACT []
xref: EFO:1000852
xref: MESH:D008303
is_a: DOID:225 ! syndrome
is_a: DOID:9007787 ! Carcinoid Tumor

[Term]
id: DOID:9005599
name: Brachydactyly-Nystagmus-Cerebellar Ataxia
alt_id: MIM:113400
alt_id: RDO:0014624
xref: MESH:C566192
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:9005600
name: Infarction
def: "Formation of an infarct, which is NECROSIS in tissue due to local ISCHEMIA resulting from obstruction of BLOOD CIRCULATION, most commonly by a THROMBUS or EMBOLUS." [MESH:D007238]
synonym: "Infarctions" EXACT []
xref: EFO:0009463
xref: MESH:D007238
is_a: DOID:326 ! ischemia
is_a: DOID:9005749 ! Necrosis

[Term]
id: DOID:9005601
name: CATIFA Syndrome
def: "A disease characterized by global developmental delay, impaired intellectual development, and ADHD. Patients show an elongated face with long philtrum, small ears, ocular anomalies, orofacial cleft and misaligned teeth." [MIM:618761]
synonym: "CATIFA" EXACT []
synonym: "cleft lip, cataract, tooth abnormality, impaired intellectual development, facial dysmorphism, and attention-deficit hyperactivity disorder" EXACT []
xref: MIM:618761
is_a: DOID:0050567 ! orofacial cleft
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1094 ! attention deficit hyperactivity disorder
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2020-02-13T13:43:36Z

[Term]
id: DOID:9005602
name: Calculi
def: "An abnormal concretion occurring mostly in the urinary and biliary tracts, usually composed of mineral salts. Also called stones." [MESH:D002137]
synonym: "Biliary or Urinary Stones" EXACT []
synonym: "Calculus" EXACT []
xref: MESH:D002137
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9005603
name: Muscle Hypotonia
def: "A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching." [MESH:D009123]
synonym: "Decreased Muscle Tone" EXACT []
synonym: "FACIAL HYPOTONIA" NARROW []
synonym: "Flaccid Muscle Tone" EXACT []
synonym: "Floppy Muscle" EXACT []
synonym: "Floppy Muscles" EXACT []
synonym: "GENERALIZED HYPOTONIA" NARROW []
synonym: "Hypomyotonia" EXACT []
synonym: "Hypotonia" EXACT []
synonym: "Hypotonias, Unilateral" EXACT []
synonym: "Muscle Flaccidity" EXACT []
synonym: "Muscle Hypotony" EXACT []
synonym: "Muscle Tone Atonic" EXACT []
synonym: "Muscle Tone Atonics" EXACT []
synonym: "Muscle Tone Poor" EXACT []
synonym: "Muscular Flaccidities" EXACT []
synonym: "Muscular Flaccidity" EXACT []
synonym: "Muscular Hypotonia" EXACT []
synonym: "Neonatal Hypotonia" EXACT []
synonym: "Neonatal Hypotonias" EXACT []
synonym: "Unilateral Hypotonia" NARROW []
xref: MESH:D009123
is_a: DOID:9000165 ! Neuromuscular Manifestations

[Term]
id: DOID:9005604
name: Recurrent Dislocation of Head of Fibula
alt_id: MIM:135800
xref: MESH:C565011
is_a: DOID:9003279 ! Joint Dislocations

[Term]
id: DOID:9005605
name: Arteriovenous Fistula
def: "An abnormal direct communication between an artery and a vein without passing through the CAPILLARIES. An A-V fistula usually leads to the formation of a dilated sac-like connection, arteriovenous aneurysm. The locations and size of the shunts determine the degree of effects on the cardiovascular functions such as BLOOD PRESSURE and HEART RATE." [MESH:D001164]
synonym: "Arteriovenous Aneurysm" EXACT []
synonym: "Arteriovenous Fistulas" EXACT []
xref: MESH:D001164
xref: NCI:C36192
is_a: DOID:11294 ! arteriovenous malformation
is_a: DOID:9004252 ! Vascular Fistula

[Term]
id: DOID:9005606
name: Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor
synonym: "GLOW" EXACT []
synonym: "GLOW syndrome" EXACT []
synonym: "GLOW syndrome, somatic mosaic" EXACT []
xref: MIM:618272
is_a: DOID:2154 ! nephroblastoma
is_a: DOID:225 ! syndrome
is_a: DOID:9007583 ! Cysts
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2019-02-26T11:08:27Z

[Term]
id: DOID:9005607
name: Hereditary Paraganglioma-Pheochromocytoma Syndromes
is_a: DOID:0050773 ! paraganglioma
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:9005608
name: Stern Lubinsky Durrie Syndrome
xref: MESH:C537488
is_a: DOID:10124 ! corneal disease
is_a: DOID:225 ! syndrome
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9005609
name: Aksu von Stockhausen Syndrome
synonym: "Hereditary branchial arch defects" EXACT []
xref: MESH:C535611
xref: RDO:0000835
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005610
name: Leukemic Infiltration
def: "A pathologic change in leukemia in which leukemic cells permeate various organs at any stage of the disease. All types of leukemia show various degrees of infiltration, depending upon the type of leukemia. The degree of infiltration may vary from site to site. The liver and spleen are common sites of infiltration, the greatest appearing in myelocytic leukemia, but infiltration is seen also in the granulocytic and lymphocytic types. The kidney is also a common site and of the gastrointestinal system, the stomach and ileum are commonly involved. In lymphocytic leukemia the skin is often infiltrated. The central nervous system too is a common site." [MESH:D017254]
synonym: "Leukemic Infiltrations" EXACT []
xref: MESH:D017254
is_a: DOID:9004575 ! Neoplasm Invasiveness

[Term]
id: DOID:9005611
name: Malformations of Cortical Development, Group I
def: "Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells." [MESH:D065703]
synonym: "Abnormal Proliferation Cortical Malformations" EXACT []
synonym: "Cortical Malformations, Group I" EXACT []
synonym: "Malformations Due to Abnormal Neuronal and Glial Proliferation or Apoptosis" EXACT []
synonym: "Malformations Secondary to Abnormal Neuronal and Glial Proliferation or Apoptosis" EXACT []
xref: MESH:D065703
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations

[Term]
id: DOID:9005612
name: Endometrial Intraepithelial Neoplasia
def: "This is a premalignant neoplastic process that affects the endometrial epithelium and glands. It is a neoplastic clonal expansion of endometrial glands characterized by cytologic changes of the epithelium and the presence of an increased number of endometrial glands. The glands form crowded aggregates with tubular or branching patterns which are cytologically distinct from the background architectural and cytological pattern. It is associated with molecular changes seen in endometrioid endometrial carcinoma, including microsatellite instability, PAX2 inactivation, and PTEN, KRAS, and CTNNB1 gene mutation" [EFO:1000235, NCI:C27789]
synonym: "Atypical Endometrial Hyperplasia" EXACT []
synonym: "Atypical hyperplasia/Endometrial intraepithelial neoplasia" EXACT []
synonym: "Atypical Hyperplasia of Endometrium" EXACT []
synonym: "Cervical Glandular Intraepithelial Neoplasia" NARROW []
synonym: "EAH/EIN" EXACT []
synonym: "EIN" EXACT []
synonym: "EmGD" EXACT []
synonym: "Endometrial Atypical Hyperplasia" EXACT []
synonym: "Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia" EXACT []
synonym: "Endometrial Glandular Dysplasia" EXACT []
synonym: "Endometrial Hyperplasia with Atypia" EXACT []
xref: EFO:1000165
xref: EFO:1000235
is_a: DOID:0060071 ! pre-malignant neoplasm
is_a: DOID:0080365 ! endometrial hyperplasia
is_a: DOID:9007715 ! Endometrial Neoplasms
created_by: slaulede
creation_date: 2023-02-07T12:05:45Z

[Term]
id: DOID:9005613
name: Myopia 1
alt_id: MIM:310460
synonym: "MYOPIA 1, X-LINKED" EXACT []
synonym: "Myopia, X-Linked" EXACT []
synonym: "MYP1" EXACT []
xref: MESH:C564091
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9005614
name: Methylmalonic Aciduria and Homocystinuria
synonym: "Methylmalonic acidemia with homocystinuria" EXACT []
xref: GARD:3579
xref: MESH:C537359
xref: MIM:PS277400
xref: MONDO:0016826
xref: ORDO:26
is_a: DOID:14749 ! methylmalonic acidemia
is_a: DOID:9263 ! homocystinuria
created_by: mtutaj
creation_date: 2023-02-06T14:36:37Z

[Term]
id: DOID:9005615
name: Joubert Syndrome 38
def: "Characterized by hypotonia, global developmental delay, oculomotor apraxia, and breathing abnormalities, with a 'molar tooth sign' on brain MRI. Caused by compound heterozygous mutation in the KIAA0753 gene on chromosome 17p13. (OMIM)" []
synonym: "JBTS38" EXACT []
xref: MIM:619476
is_a: DOID:0050777 ! Joubert syndrome
created_by: mtutaj
creation_date: 2021-08-25T09:25:57Z

[Term]
id: DOID:9005616
name: Micrognathism
def: "Abnormally small jaw." [MESH:D008844]
synonym: "Congenital Micrognathia" EXACT []
synonym: "congenital micrognathias" EXACT []
synonym: "Congenital Micrognathism" EXACT []
synonym: "Congenital Micrognathisms" EXACT []
synonym: "Mandibular Micrognathia" EXACT []
synonym: "Mandibular Micrognathias" EXACT []
synonym: "Mandibular Micrognathism" EXACT []
synonym: "Mandibular Micrognathisms" EXACT []
synonym: "Micrognathia" EXACT []
synonym: "Micrognathias" EXACT []
synonym: "micrognathisms" EXACT []
xref: MESH:D008844
is_a: DOID:9000066 ! Jaw Abnormalities

[Term]
id: DOID:9005617
name: Perioral Dermatitis
alt_id: RDO:0007278
def: "A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)" [MESH:D019557]
synonym: "Periocular Dermatitides" EXACT []
synonym: "Periocular Dermatitis" EXACT []
synonym: "Perioral Dermatitides" EXACT []
xref: EFO:1001305
xref: MESH:D019557
is_a: DOID:2723 ! dermatitis
is_a: DOID:3134 ! facial dermatosis

[Term]
id: DOID:9005619
name: Acetylcarnitine Deficiency
alt_id: RDO:0001413
xref: MESH:C536006
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9005620
name: Tracheal Agenesis without Tracheoesophageal Fistula
synonym: "Type 2 tracheal agenesis" EXACT []
xref: MESH:C536976
xref: RDO:0002711
is_a: DOID:0060313 ! tracheomalacia

[Term]
id: DOID:9005621
name: Combined Oxidative Phosphorylation Deficiency 59
def: "This disease may present as a lethal infantile form of Leigh syndrome or as a milder disorder with hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder (ADHD) and survival into adulthood. Caused by homozygous or compound heterozygous mutation in the MRPL39 gene on chromosome 21q21." [MIM:620646]
synonym: "COXPD59" EXACT []
xref: MIM:620646
is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency
created_by: tutajm
creation_date: 2023-12-12T17:51:32Z

[Term]
id: DOID:9005622
name: Congenital Ichthyosis with Trichothiodystrophy
xref: MESH:C566643
is_a: DOID:0111866 ! trichothiodystrophy
is_a: DOID:1697 ! ichthyosis

[Term]
id: DOID:9005623
name: Iida Kannari Syndrome
synonym: "Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features" EXACT []
xref: GARD:3249
xref: MESH:C536284
xref: MONDO:0043116
is_a: DOID:0060249 ! scoliosis
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:674 ! cleft palate
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:9005624
name: Photoparoxysmal Response 3
alt_id: MIM:609573
synonym: "photoparoxysmal response with or without myoclonic epilepsy" EXACT []
synonym: "PPR3" EXACT []
xref: MESH:C563695
is_a: DOID:0060281 ! photosensitive epilepsy
is_a: DOID:9005154 ! Myoclonic Epilepsies

[Term]
id: DOID:9005625
name: Border Disease
def: "Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus." [MESH:D001882]
synonym: "Border Diseases" EXACT []
xref: EFO:0007177
xref: MESH:D001882
is_a: DOID:9006097 ! Sheep Diseases
is_a: DOID:9008833 ! Pestivirus Infections

[Term]
id: DOID:9005626
name: Craniosynostosis, Anal Anomalies, and Porokeratosis
alt_id: MIM:603116
synonym: "CAP syndrome" EXACT []
synonym: "CDAGS syndrome" EXACT []
xref: MESH:C536789
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:3805 ! porokeratosis
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:9005627
name: Metabolic Brain Diseases
alt_id: RDO:0001330
def: "Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function." [MESH:D001928]
synonym: "Acquired Metabolic Diseases, Brain" EXACT []
synonym: "Acquired Metabolic Encephalopathies" EXACT []
synonym: "Acquired Metabolic Encephalopathy" EXACT []
synonym: "Brain Disorders, Metabolic, Acquired" EXACT []
synonym: "Brain Metabolic Disorder" EXACT []
synonym: "Brain Metabolic Disorders" EXACT []
synonym: "Central Nervous System Metabolic Disorders" EXACT []
synonym: "CNS Metabolic Disorder" EXACT []
synonym: "CNS Metabolic Disorders" EXACT []
synonym: "CNS Metabolic Disorders, Acquired" EXACT []
synonym: "Metabolic Brain Disease" EXACT []
synonym: "Metabolic Brain Syndrome" EXACT []
synonym: "Metabolic Brain Syndrome, Acquired" EXACT []
synonym: "Metabolic Brain Syndromes" EXACT []
synonym: "Metabolic Brain Syndromes, Acquired" EXACT []
synonym: "Metabolic Disorder, Central Nervous System, Acquired" EXACT []
synonym: "Metabolic Encephalopathies" EXACT []
synonym: "Metabolic Encephalopathy" EXACT []
synonym: "Nervous System Acquired Metabolic Diseases" EXACT []
xref: MESH:D001928
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9005628
name: Ataxia-Telangiectasia Variant
xref: MESH:C566865
xref: RDO:0015085
is_a: DOID:12704 ! ataxia telangiectasia

[Term]
id: DOID:9005630
name: Rupture
def: "Forcible or traumatic tear or break of an organ or other soft part of the body." [MESH:D012421]
synonym: "Ruptures" EXACT []
xref: MESH:D012421
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9005631
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS
alt_id: MIM:606220
def: "IDDSFAS is caused by homozygous mutation in the FBXL3 gene on chromosome 13q22. (OMIM)" []
synonym: "IDDSFAS" EXACT []
synonym: "INTELLECTUAL DISABILITY, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS" EXACT []
synonym: "Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations" EXACT []
xref: MESH:C565248
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9003279 ! Joint Dislocations
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9005632
name: Cocaine-Related Disorders
def: "Disorders related or resulting from use of cocaine." [MESH:D019970]
synonym: "cocaine-related disorder" EXACT []
synonym: "cocaine use disorder" NARROW []
xref: EFO:0010445
xref: MESH:D019970
is_a: DOID:303 ! substance-related disorder

[Term]
id: DOID:9005633
name: Headache Disorders, Secondary
def: "Conditions with HEADACHE symptom that can be attributed to a variety of causes including BRAIN VASCULAR DISORDERS; WOUNDS AND INJURIES; INFECTION; drug use or its withdrawal." [MESH:D051271]
synonym: "Analgesic Overuse Headache" EXACT []
synonym: "Analgesic Overuse Headaches" EXACT []
synonym: "Analgesic Rebound Headache" EXACT []
synonym: "Analgesic Rebound Headaches" EXACT []
synonym: "Medication Overuse Headache" EXACT []
synonym: "Medication Overuse Headaches" EXACT []
synonym: "Secondary Headache Disorder" EXACT []
xref: MESH:D051271
xref: RDO:0006806
is_a: DOID:9007953 ! Headache Disorders

[Term]
id: DOID:9005634
name: Tolchin-Le Caignec Syndrome
def: "A developmental disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes. Many patients have bony abnormalities. (OMIM)" []
synonym: "intellectual developmental disorder with behavioral abnormalities and variable bone defects" EXACT []
synonym: "TOLCAS" EXACT []
xref: MIM:618971
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
created_by: mtutaj
creation_date: 2020-08-06T08:09:18Z

[Term]
id: DOID:9005635
name: Estren-Dameshek Variant of Fanconi Anemia
alt_id: MESH:C565573
synonym: "Estren-Dameshek Variant of Fanconi Pancytopenia" EXACT []
synonym: "Fanconi Anemia, Estren-Dameshek Variant" EXACT []
xref: MESH:C565572
is_a: DOID:0111095 ! Fanconi anemia complementation group A

[Term]
id: DOID:9005637
name: Enzootic Bovine Leukosis
def: "A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." [MESH:D016583]
synonym: "Bovine Leukemia" EXACT []
synonym: "bovine leukemias" EXACT []
synonym: "Bovine Leukoses" EXACT []
synonym: "Bovine Leukosis" EXACT []
synonym: "Bovine Lymphoma" EXACT []
synonym: "Bovine Lymphomas" EXACT []
synonym: "Bovine Lymphosarcoma" EXACT []
synonym: "Bovine Lymphosarcomas" EXACT []
synonym: "enzootic bovine leukoses" EXACT []
xref: EFO:1001315
xref: MESH:D016583
xref: MONDO:0025489
xref: NCI:C131469
xref: NCI:C134767
is_a: DOID:1240 ! leukemia
is_a: DOID:9001509 ! Deltaretrovirus Infections
is_a: DOID:9004723 ! Cattle Diseases

[Term]
id: DOID:9005638
name: Spastic Paresis, Glaucoma, and Mental Retardation
alt_id: MIM:270850
xref: MESH:C564809
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1686 ! glaucoma
is_a: DOID:9002598 ! Spastic Paraparesis

[Term]
id: DOID:9005639
name: Mandibular Fractures
def: "Fractures of the lower jaw." [MESH:D008337]
synonym: "Mandibular Fracture" EXACT []
xref: MESH:D008337
is_a: DOID:9004559 ! Jaw Fractures

[Term]
id: DOID:9005640
name: Complete Atrioventricular Septal Defect
synonym: "Common atrioventricular canal" EXACT []
synonym: "Complete atrioventricular canal" EXACT []
xref: MESH:C535974
xref: RDO:0001366
is_a: DOID:11502 ! mitral valve insufficiency

[Term]
id: DOID:9005641
name: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES
def: "An intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. (OMIM)" []
synonym: "GDACCF" EXACT []
synonym: "ZNF148-RELATED CONDITION" EXACT []
xref: MIM:617260
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9005642
name: Odontogenic Myxoma
def: "An uncommon benign odontogenic tumor arising from embryonic connective tissue associated with tooth formation. It is a slow-growing, expansile, painless, non-metastasizing, central tumor of jaws, chiefly the mandible." []
is_a: DOID:9003253 ! Myxoma
is_a: DOID:9006134 ! Odontogenic Tumors

[Term]
id: DOID:9005643
name: Experimental Diabetes Mellitus
def: "Diabetes mellitus induced experimentally by administration of various diabetogenic agents or by PANCREATECTOMY." [MESH:D003921]
synonym: "Alloxan Diabetes" EXACT []
synonym: "Experimental Diabetes Mellitus" EXACT []
synonym: "Streptozocin Diabete" EXACT []
synonym: "streptozocin diabetes" EXACT []
synonym: "streptozotocin diabetes" EXACT []
xref: MESH:D003921
is_a: DOID:9006205 ! Animal Disease Models
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9005644
name: Amniotic Band Syndrome
def: "A disorder present in the newborn infant in which constriction rings or bands, causing soft tissue depressions, encircle digits, extremities, or limbs and sometimes the neck, thorax, or abdomen. They may be associated with intrauterine amputations." [MESH:D000652]
synonym: "Amniotic Band" EXACT []
synonym: "Amniotic Bands" EXACT []
synonym: "Annular Groove" EXACT []
synonym: "Annular Grooves" EXACT []
synonym: "Intrauterine Amputation" EXACT []
synonym: "Intrauterine Amputations" EXACT []
synonym: "Intrauterine Ring Constriction" EXACT []
synonym: "Intrauterine Ring Constrictions" EXACT []
synonym: "Streeter Syndrome" EXACT []
xref: MESH:D000652
xref: RDO:0000036
is_a: DOID:225 ! syndrome
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9005645
name: Blepharochalasis and Double Lip
alt_id: MIM:109900
synonym: "Ascher Syndrome" EXACT []
xref: MESH:C562742
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005646
name: Cheyne-Stokes Respiration
def: "An abnormal pattern of breathing characterized by alternating periods of apnea and deep, rapid breathing. The cycle begins with slow, shallow breaths that gradually increase in depth and rate and is then followed by a period of apnea. The period of apnea can last 5 to 30 seconds, then the cycle repeats every 45 seconds to 3 minutes." [MESH:D002639]
xref: MESH:D002639
xref: RDO:0005186
is_a: DOID:9000575 ! Respiratory Signs and Symptoms
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:9005647
name: Experimental Autoimmune Uveitis
def: "An experimental animal model used for the study of uveitis. It is commonly induced with interphotoreceptor retinoid-binding protein (IRBP) (relapsing EAU) or retinal S-Antigen (monophasic EAU)." []
synonym: "EAAU" RELATED []
synonym: "experimental autoimmune anterior uveitis" RELATED []
is_a: DOID:13141 ! uveitis
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9006205 ! Animal Disease Models

[Term]
id: DOID:9005648
name: Glycogen Storage Disease 0, Muscle
alt_id: MIM:611556
synonym: "GSD 0b" EXACT []
synonym: "GSD0B" EXACT []
synonym: "Muscle Glycogen Synthase Deficiency" EXACT []
xref: MESH:C566917
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:9005649
name: Pure Autonomic Failure
def: "A degenerative disease of the AUTONOMIC NERVOUS SYSTEM that is characterized by idiopathic ORTHOSTATIC HYPOTENSION and a greatly reduced level of CATECHOLAMINES. No other neurological deficits are present." [MESH:D054970]
synonym: "Bradbury Eggleston Syndrome" EXACT []
xref: MESH:D054970
xref: RDO:0007692
is_a: DOID:9003171 ! Primary Dysautonomias

[Term]
id: DOID:9005650
name: Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
def: "A severe bone dysplasia resulting in significant short stature with variable anomalies of the spine, pelvis, hips, and extremities, including short, rudimentary, or absent digits. Patients also exhibit variable facial dysmorphisms. Caused by compound heterozygous mutation in the ERI1 gene on chromosome 8p23." [MIM:620663]
synonym: "ERI1-ASSOCIATED DISORDER" BROAD []
synonym: "SEMDGC" EXACT []
xref: MIM:620663
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
created_by: tutajm
creation_date: 2024-01-19T10:08:06Z

[Term]
id: DOID:9005651
name: NOR POLYAGGLUTINATION SYNDROME
def: "This is a hematopoietic system disease condition that is characterized by polyagglutination in vitro when exposed to almost all ABO compatible normal sera, but not to cord sera. The trait is transmitted in an autosomal dominant pattern of inheritance and agglutination with control human serum samples could be enhanced when the NOR red blood cells (the agglutinating erythrocytes) were treated with proteolytic enzymes. The anti-NOR antibody has been determined to be IgM." [MIM:111400]
xref: PMID:7072192
is_a: DOID:9005170 ! polyagglutination
created_by: slaulede
creation_date: 2023-05-05T08:16:57Z

[Term]
id: DOID:9005652
name: Van Den Bosch Syndrome
alt_id: MIM:314500
xref: MESH:C563129
xref: RDO:0012517
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11155 ! hypohidrosis
is_a: DOID:225 ! syndrome
is_a: DOID:2734 ! keratosis follicularis
is_a: DOID:9821 ! Choroideremia

[Term]
id: DOID:9005653
name: Cornea Plana 1
alt_id: MIM:121400
synonym: "CNA1" EXACT []
synonym: "CORNEA PLANA 1, AUTOSOMAL DOMINANT" EXACT []
xref: MESH:C565158
is_a: DOID:0060287 ! cornea plana
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9005655
name: Paragangliomas 2
alt_id: MIM:601650
synonym: "familial glomus tumors 2" EXACT []
synonym: "PGL2" EXACT []
synonym: "pheochromocytoma/paraganglioma syndrome 2" EXACT []
synonym: "PPGL2" EXACT []
xref: MESH:C566646
is_a: DOID:0050773 ! paraganglioma
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:9005656
name: Optic Atrophy 13
alt_id: MIM:165510
synonym: "OPA13" EXACT []
synonym: "optic atrophy 13 with retinal and foveal abnormalities" EXACT []
synonym: "optic atrophy with negative electroretinograms" EXACT []
xref: MESH:C563494
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:9005657
name: Positive-Pressure Respiration, Intrinsic
def: "Non-therapeutic positive end-expiratory pressure occurring frequently in patients with severe airway obstruction. It can appear with or without the administration of external positive end-expiratory pressure (POSITIVE-PRESSURE RESPIRATION). It presents an important load on the inspiratory muscles which are operating at a mechanical disadvantage due to hyperinflation. Auto-PEEP may cause profound hypotension that should be treated by intravascular volume expansion, increasing the time for expiration, and/or changing from assist mode to intermittent mandatory ventilation mode. (From Harrison's Principles of Internal Medicine, 12th ed, p1127)" [MESH:D018467]
synonym: "Auto PEEP" EXACT []
synonym: "AutoPEEP" EXACT []
synonym: "Intrinsic PEEP" EXACT []
synonym: "Non Therapeutic Positive Pressure Respiration" EXACT []
synonym: "Nontherapeutic Positive Pressure Respiration" EXACT []
synonym: "Occult PEEP" EXACT []
synonym: "Occult Positive-Pressure Respiration" EXACT []
xref: MESH:D018467
xref: RDO:0007208
is_a: DOID:11162 ! respiratory failure

[Term]
id: DOID:9005658
name: Hypoaldosteronism
def: "A congenital or acquired condition of insufficient production of ALDOSTERONE by the ADRENAL CORTEX leading to diminished aldosterone-mediated synthesis of Na(+)-K(+)-EXCHANGING ATPASE in renal tubular cells. Clinical symptoms include HYPERKALEMIA, sodium-wasting, HYPOTENSION, and sometimes metabolic ACIDOSIS." [MESH:D006994]
synonym: "Hyporeninemic Hypoaldosteronism" EXACT []
synonym: "Type IV Renal Tubular Acidosis" EXACT []
xref: MESH:D006994
xref: RDO:0003710
is_a: DOID:9008622 ! Adrenal Insufficiency

[Term]
id: DOID:9005660
name: Hypopigmentation
def: "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections." [MESH:D017496]
synonym: "Hypomelanoses" EXACT []
synonym: "Hypomelanosis" EXACT []
xref: MESH:D017496
xref: RDO:0001250
is_a: DOID:10123 ! pigmentation disease

[Term]
id: DOID:9005662
name: Keratoderma Palmoplantaris Transgrediens
synonym: "Erythrokeratodermia Figurata, Congenital Familial, in Plaques" EXACT []
synonym: "Erythrokeratodermia Variabilis with Erythema Gyratum Repens" EXACT []
synonym: "ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS GREITHER DISEASE" RELATED []
synonym: "Greither Disease" EXACT []
synonym: "Keratosis palmoplantaris transgrediens et progrediens" EXACT []
synonym: "transgrediens et progrediens palmoplantar keratoderma" EXACT []
xref: MESH:C536154
is_a: DOID:0050467 ! erythrokeratodermia variabilis
is_a: DOID:3390 ! palmoplantar keratosis

[Term]
id: DOID:9005663
name: Lethal Faciocardiomelic Dysplasia
alt_id: MIM:227270
xref: MESH:C565578
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008499 ! Microstomia
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9005664
name: Pentalogy of Cantrell
alt_id: MIM:313850
def: "Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g., PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the syndrome." [MESH:D058502]
synonym: "Cantrell's Pentalogy" EXACT []
synonym: "Cantrell Haller Ravitch syndrome" EXACT []
synonym: "Cantrell Pentalogy" EXACT []
synonym: "Cantrells Pentalogy" EXACT []
synonym: "MIDLINE DEFECTS, X-LINKED" NARROW []
synonym: "THAS" EXACT []
synonym: "Thoracoabdominal Syndrome" EXACT []
synonym: "Thoracoabdominal Syndromes" EXACT []
xref: MESH:D058502
is_a: DOID:0080074 ! neural tube defect
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005665
name: Chronic Mesangial Proliferative Glomerulonephritis
def: "Chronic inflammation of the renal glomeruli characterized histologically by proliferation of MESANGIAL CELLS and increase in the MESANGIAL EXTRACELLULAR MATRIX." []
synonym: "Chronic nephritic syndrome, diffuse mesangial proliferative glomerulonephritis" EXACT []
synonym: "PGN - Chronic mesangial proliferative glomerulonephritis" EXACT []
is_a: DOID:4783 ! mesangial proliferative glomerulonephritis

[Term]
id: DOID:9005666
name: Contrast-Induced Nephropathy
def: "Impairment of renal function within 48-72 hours of intravenous contrast administration." []
synonym: "CIN" EXACT []
synonym: "contrast nephropathy" EXACT []
synonym: "hospital-acquired acute kidney injury" RELATED []
xref: RDO:9000018
is_a: DOID:3021 ! acute kidney failure

[Term]
id: DOID:9005667
name: Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies
alt_id: MIM:604381
xref: MESH:C565782
is_a: DOID:13832 ! patent ductus arteriosus
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9005668
name: Dental Medial Diastema
alt_id: MIM:125900
xref: MESH:C565098
xref: MONDO:0007457
is_a: DOID:9004595 ! Diastema

[Term]
id: DOID:9005670
name: Ovarian Pregnancy
def: "A type of pregnancy in which EMBRYO IMPLANTATION occurs in an OVARY instead of in the uterine cavity." [MESH:D065172]
synonym: "ovarian ectopic pregnancy" EXACT []
synonym: "Ovarian Pregnancies" EXACT []
xref: MESH:D065172
xref: MONDO:0044098
is_a: DOID:0060329 ! ectopic pregnancy

[Term]
id: DOID:9005671
name: Wells Syndrome
synonym: "Bullous cellulitis with eosinophilia" EXACT []
synonym: "Eosinophilic cellulitis" EXACT []
xref: MESH:C536693
is_a: DOID:225 ! syndrome
is_a: DOID:3488 ! cellulitis
is_a: DOID:9001371 ! Eosinophilia

[Term]
id: DOID:9005672
name: Maple Syrup Urine Disease, Type 2
alt_id: MIM:620699
synonym: "Intermediate Maple Syrup Urine Disease Type 2" EXACT []
synonym: "MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II" NARROW []
synonym: "Maple Syrup Urine Disease, Type II" EXACT []
synonym: "MSUD2" EXACT []
xref: MESH:C535712
is_a: DOID:9269 ! maple syrup urine disease

[Term]
id: DOID:9005673
name: Stenotrophomonas Maltophilia Bacteremia
synonym: "Stenotrophomonas maltophilia bacteraemia" EXACT []
xref: MESH:C531821
xref: RDO:0000221
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9005674
name: Hemophilia A with Vascular Abnormality
alt_id: MIM:306800
xref: MESH:C564415
is_a: DOID:12134 ! factor VIII deficiency
is_a: DOID:9003191 ! Vascular Malformations

[Term]
id: DOID:9005676
name: Webb-Dattani Syndrome
def: "An autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities." [MIM:615926]
synonym: "hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies" EXACT []
synonym: "WEDAS" EXACT []
xref: MIM:615926
is_a: DOID:10907 ! microcephaly
is_a: DOID:1432 ! blindness
is_a: DOID:1826 ! epilepsy
is_a: DOID:557 ! kidney disease
is_a: DOID:9007428 ! Muscle Spasticity
created_by: slaulede
creation_date: 2020-02-18T11:31:12Z

[Term]
id: DOID:9005677
name: Encephalomyelitis, Enzootic Porcine
def: "A picornavirus infection producing symptoms similar to poliomyelitis in pigs." [MESH:D004682]
synonym: "Porcine Poliomyelitis" EXACT []
synonym: "Talfan Disease" EXACT []
synonym: "Teschen Disease" EXACT []
xref: MESH:D004682
xref: RDO:0005476
is_a: DOID:9006549 ! Enterovirus Infections
is_a: DOID:9008435 ! Swine Diseases

[Term]
id: DOID:9005678
name: Familial Pityriasis Rubra Pilaris
alt_id: RDO:0000201
synonym: "Pityriasis rubra pilaris--familial type" EXACT []
xref: MESH:C531784
is_a: DOID:9212 ! pityriasis rubra pilaris

[Term]
id: DOID:9005679
name: Thrombocytopenia 12
def: "An autosomal recessive disorder characterized by congenital thrombocytopenia apparent from infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the GNE gene on chromosome 9p13." [MIM:620757]
synonym: "THC12" EXACT []
synonym: "Thrombocytopenia 12 with or without myopathy" EXACT []
xref: MIM:620757
is_a: DOID:1588 ! thrombocytopenia
created_by: tutajm
creation_date: 2024-04-22T17:06:13Z

[Term]
id: DOID:9005680
name: Primary Release Disorder Of Platelets
alt_id: MIM:176630
xref: MESH:C566759
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:9005681
name: Leukemia P388
def: "An experimental lymphocytic leukemia originally induced in DBA/2 mice by painting with methylcholanthrene." [MESH:D007941]
synonym: "P388D(1) Leukemia" EXACT []
xref: MESH:D007941
xref: RDO:0005986
is_a: DOID:9004441 ! Experimental Leukemia

[Term]
id: DOID:9005682
name: SHORT STATURE-MICROGNATHIA SYNDROME
def: "This disease has core features of intrauterine growth restriction (IUGR): postnatal short stature that is often rhizomelic and micrognathia." []
synonym: "ARCN1-RELATED CONDITION" EXACT []
synonym: "Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay" EXACT []
synonym: "SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY" EXACT []
synonym: "SRMMD" EXACT []
synonym: "SSMG" EXACT []
xref: MIM:617164
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: rgd
creation_date: 2017-04-06T00:00:00Z

[Term]
id: DOID:9005683
name: Metabolic Brain Diseases, Inborn
alt_id: RDO:0000346
def: "Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero." [MESH:D020739]
synonym: "Central Nervous System Inborn Metabolic Diseases" EXACT []
synonym: "Central Nervous System Inborn Metabolic Disorders" EXACT []
synonym: "CNS Metabolic Disorders, Inborn" EXACT []
synonym: "Familial Metabolic Brain Diseases" EXACT []
synonym: "Familial Metabolic Disorders, Brain" EXACT []
synonym: "Inborn Errors of Metabolism, Brain" EXACT []
synonym: "Inborn Metabolic Brain Disorders" EXACT []
synonym: "Inborn Metabolic Brain Syndrome" EXACT []
synonym: "Inherited Metabolic Brain Diseases" EXACT []
synonym: "Inherited Metabolic Disorders, Brain" EXACT []
synonym: "Metabolic Encephalopathies, Inborn" EXACT []
xref: MESH:D020739
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9005627 ! Metabolic Brain Diseases

[Term]
id: DOID:9005684
name: Foreign-Body Migration
def: "Migration of a foreign body from its original location to some other location in the body." [MESH:D005548]
synonym: "Foreign-Body Migrations" EXACT []
xref: MESH:D005548
xref: RDO:0005625
is_a: DOID:9003074 ! Foreign Bodies

[Term]
id: DOID:9005686
name: Dandy Walker Cyst
synonym: "Dandy-Walker cysts" EXACT []
xref: MESH:C538507
is_a: DOID:2785 ! Dandy-Walker syndrome

[Term]
id: DOID:9005687
name: Autosomal Dominant Intellectual Developmental Disorder 64
def: "Characterized by mildly to severely impaired intellectual development (ID) with speech delays. Caused by heterozygous mutation in the ZNF292 gene on chromosome 6q14." [MIM:619188]
synonym: "autosomal dominant mental retardation 64" EXACT []
synonym: "MRD64" EXACT []
synonym: "ZNF292-RELATED CONDITION" EXACT []
xref: MIM:619188
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2021-02-19T10:38:31Z

[Term]
id: DOID:9005688
name: Skull Fracture, Depressed
def: "A skull fracture characterized by inward depression of a fragment or section of cranial bone, often compressing the underlying dura mater and brain. Depressed cranial fractures which feature open skin wounds that communicate with skull fragments are referred to as compound depressed skull fractures." [MESH:D020204]
synonym: "Compound Depressed Skull Fracture" EXACT []
synonym: "Compound Depressed Skull Fractures" EXACT []
synonym: "Depressed Skull Fractures" EXACT []
xref: MESH:D020204
xref: RDO:0007344
is_a: DOID:9002209 ! Skull Fractures

[Term]
id: DOID:9005689
name: Philadelphia Chromosome
def: "An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE)." [MESH:D010677]
synonym: "Ph 1 Chromosome" EXACT []
synonym: "Ph1 Chromosome" EXACT []
synonym: "Ph 1 Chromosomes" EXACT []
synonym: "Ph1 Chromosomes" EXACT []
xref: MESH:D010677
xref: RDO:0006338
is_a: DOID:9007973 ! Genetic Translocation

[Term]
id: DOID:9005690
name: Mandibulofacial Dysostosis with Mental Deficiency
alt_id: MIM:248400
synonym: "MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION" EXACT []
xref: MESH:C565420
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9008003 ! Mandibulofacial Dysostosis

[Term]
id: DOID:9005691
name: Spinal Muscular Atrophy, Segmental
alt_id: MIM:183020
xref: MESH:C566670
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:9005692
name: Platelet-Type Bleeding Disorder 25
def: "An autosomal dominant condition characterized by increased susceptibility to bleeding episodes due to decreased or dysfunctional platelets. Caused by heterozygous mutation in the TPM4 gene on chromosome 19p13." [MIM:620486]
synonym: "BDPLT25" EXACT []
xref: MIM:620486
is_a: DOID:2218 ! blood platelet disease
created_by: mtutaj
creation_date: 2023-09-01T09:56:11Z

[Term]
id: DOID:9005693
name: Uterine Anomalies
alt_id: MIM:192000
xref: MESH:C562565
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:9005694
name: Papillary Thyroid Microcarcinoma
alt_id: MIM:603744
xref: MESH:C563277
is_a: DOID:3113 ! papillary carcinoma
is_a: DOID:3969 ! papillary thyroid carcinoma

[Term]
id: DOID:9005695
name: Malnutrition
def: "An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement." [MESH:D044342]
synonym: "Malnourishment" EXACT []
synonym: "Malnourishments" EXACT []
synonym: "Nutritional Deficiencies" EXACT []
synonym: "Nutritional Deficiency" EXACT []
synonym: "Undernutrition" EXACT []
xref: EFO:0008572
xref: MESH:D044342
is_a: DOID:374 ! nutrition disease

[Term]
id: DOID:9005697
name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES
def: "This disease is characterized by global developmental delay, speech delay, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. Brain imaging is usually normal. Additional features include early feeding difficulties, failure to thrive, short stature, mild visual impairment, hypotonia, seizures (particularly febrile), and distal skeletal defects of the hands and feet" [MIM:620494]
synonym: "NEDLBF" EXACT []
xref: MIM:620494
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2023-09-19T14:11:41Z

[Term]
id: DOID:9005699
name: Congenital Pseudarthrosis of Clavicle
alt_id: MIM:118980
xref: MESH:C562548
is_a: DOID:9007640 ! Congenital Pseudoarthrosis

[Term]
id: DOID:9005700
name: Airway Obstruction
def: "Any hindrance to the passage of air into and out of the lungs." [MESH:D000402]
synonym: "Airway Obstructions" EXACT []
synonym: "Choking" EXACT []
xref: MESH:D000402
xref: RDO:0004789
is_a: DOID:11162 ! respiratory failure

[Term]
id: DOID:9005701
name: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES
def: "This is a disease characterized by microcephaly, congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, and early mortality." [MIM:619321]
synonym: "GKAF" EXACT []
xref: MIM:619321
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:987 ! alopecia
created_by: slaulede
creation_date: 2021-06-17T12:02:06Z

[Term]
id: DOID:9005702
name: Lubani Al Saleh Teebi Syndrome
xref: MESH:C537039
is_a: DOID:1059 ! intellectual disability
is_a: DOID:13382 ! megaloblastic anemia
is_a: DOID:1485 ! cystic fibrosis
is_a: DOID:225 ! syndrome
is_a: DOID:9008114 ! Helicobacter Infections

[Term]
id: DOID:9005703
name: Ruzicka Goerz Anton syndrome
synonym: "Ichthyosis deafness mental retardation skeletal anomalies" EXACT []
xref: MESH:C537192
is_a: DOID:0060140 ! cortical deafness
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:9004134 ! Cervical Rib Syndrome
is_a: DOID:9004547 ! Thyroid Neoplasms
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9005704
name: Avulsion Fractures
def: "Tearing away of the CORTICAL BONE fragment at the location of a strong ligament or tendon attachment. The bone fragment detachment site often occurs near a soft site (e.g., GROWTH PLATE) at the base where LIGAMENTS; TENDONS; or JOINT CAPSULES attach. In younger patients it is most often caused by a sudden forceful pull on a tendon in the opposite direction of the bone movement. In the elderly it is associated with osteoporotic INSUFFICIENCY FRACTURES." [MESH:D000071562]
synonym: "Avulsion Fracture" EXACT []
synonym: "Sprain Fracture" EXACT []
synonym: "Sprain Fractures" EXACT []
xref: MESH:D000071562
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9005705
name: Fairbank Disease
synonym: "Dysplasia epiphysealis multiplex" EXACT []
synonym: "Epiphyseal dysplasia Fairbank type" EXACT []
synonym: "Epiphyseal Dysplasia, Ribbing Type" EXACT []
synonym: "Fairbank multiple epiphyseal dysplasia" EXACT []
xref: MESH:C536393
xref: RDO:0001964
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9005706
name: Benign Familial Neonatal Seizures, 3
synonym: "benign familial neonatal convulsions, 3" EXACT []
synonym: "BFNC3" EXACT []
synonym: "BFNS3" EXACT []
xref: MIM:608217
is_a: DOID:14264 ! benign neonatal seizures
is_a: DOID:14777 ! benign familial neonatal epilepsy
created_by: mtutaj
creation_date: 2021-02-15T11:08:01Z

[Term]
id: DOID:9005707
name: Larsen-Like Syndrome, Lethal Type
alt_id: MIM:245650
synonym: "Larsen-like multiple joint dislocation syndrome" EXACT []
xref: MESH:C537872
is_a: DOID:13481 ! thanatophoric dysplasia
is_a: DOID:9000896 ! Larsen-Like Syndromes

[Term]
id: DOID:9005708
name: Hand-Foot Syndrome
def: "Chemotherapy-induced dermal side effects that are associated with the use of various CYTOSTATIC AGENTS. Symptoms range from mild ERYTHEMA and/or PARESTHESIA to severe ulcerative dermatitis with debilitating pain involving typically palmoplantar and intertriginous areas. These cutaneous manifestations are sometimes accompanied by nail anomalies." [MESH:D060831]
synonym: "Chemotherapy Induced Acral Erythema" EXACT []
synonym: "Chemotherapy-Induced Acral Erythemas" EXACT []
synonym: "Chemotherapy Induced Palmoplantar Erythrodysesthesia" EXACT []
synonym: "Chemotherapy-Induced Palmoplantar Erythrodysesthesias" EXACT []
synonym: "Hand-Foot Syndromes" EXACT []
xref: EFO:1001893
xref: MESH:D060831
xref: RDO:0010051
is_a: DOID:225 ! syndrome
is_a: DOID:9005236 ! Drug Eruptions

[Term]
id: DOID:9005709
name: Keratitis-Ichthyosis-Deafness Syndrome
synonym: "keratitis, ichthyosis, and deafness" EXACT []
xref: MESH:C580224
xref: MIM:PS148210
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:4677 ! keratitis
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9005710
name: LONG-OLSEN-DISTELMAIER SYNDROME
def: "This disease is a severe, early-onset disease with multiple system involvement and lethal dilated cardiomyopathy (DCM) as a core clinical feature." [MIM:620609]
synonym: "LNGODS" EXACT []
xref: MIM:620609
is_a: DOID:12930 ! dilated cardiomyopathy
is_a: DOID:225 ! syndrome
created_by: slaulederkind
creation_date: 2024-04-04T18:28:46Z

[Term]
id: DOID:9005711
name: Immunodeficiency 115
def: "An autosomal recessive disorder characterized by the onset of symptoms of immune dysregulation in early infancy. Caused by homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11." [MIM:620632]
synonym: "IMD115" EXACT []
synonym: "Immunodeficiency 115 with autoinflammation" EXACT []
xref: MIM:620632
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: tutajm
creation_date: 2023-12-04T12:56:59Z

[Term]
id: DOID:9005712
name: Severe Congenital Liver Disease
def: "An autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Caused by homozygous or compound heterozygous mutation in the FOCAD gene on chromosome 9p21." [MIM:619991]
synonym: "FOCAD deficiency" EXACT []
synonym: "FOCAD-RELATED CONDITION" EXACT []
synonym: "SCOLIV" EXACT []
xref: MIM:619991
is_a: DOID:409 ! liver disease
created_by: mtutaj
creation_date: 2022-08-22T09:18:50Z

[Term]
id: DOID:9005713
name: Ectopia Cordis
def: "A rare developmental defect in which the heart is abnormally located partially or totally outside the THORAX. It is the result of defective fusion of the anterior chest wall. Depending on the location of the heart, ectopia cordis can be thoracic, thoracoabdominal, abdominal, and cervical." [MESH:D054083]
xref: MESH:D054083
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9005714
name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES
def: "This disease is characterized by axial hypotonia and global developmental delay apparent in early infancy." [MIM:619580]
synonym: "NEDLAS" EXACT []
xref: MIM:619580
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9004866 ! Ataxia
is_a: DOID:93 ! language disorder
created_by: slaulede
creation_date: 2022-12-15T09:54:56Z

[Term]
id: DOID:9005715
name: Neoplasms, Second Primary
def: "Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause." [MESH:D016609]
synonym: "Metachronous Neoplasm" EXACT []
synonym: "Metachronous Neoplasms" EXACT []
synonym: "Metachronous Second Primary Neoplasms" EXACT []
synonym: "Second Cancer" EXACT []
synonym: "Second Cancers" EXACT []
synonym: "Second Malignancies" EXACT []
synonym: "Second Malignancy" EXACT []
synonym: "Second Neoplasm" EXACT []
synonym: "Second Neoplasms" EXACT []
synonym: "Second Primary Cancer" EXACT []
synonym: "Second Primary Cancers" EXACT []
synonym: "Second Primary Neoplasm" EXACT []
synonym: "Therapy Associated Cancer" EXACT []
synonym: "Therapy-Associated Cancers" EXACT []
synonym: "Therapy-Associated Neoplasm" EXACT []
synonym: "Therapy Associated Neoplasms" EXACT []
synonym: "Therapy Related Cancer" EXACT []
synonym: "Therapy-Related Cancers" EXACT []
synonym: "Therapy-Related Neoplasm" EXACT []
synonym: "Therapy Related Neoplasms" EXACT []
synonym: "Treatment Associated Cancer" EXACT []
synonym: "Treatment-Associated Cancers" EXACT []
synonym: "Treatment-Associated Neoplasm" EXACT []
synonym: "Treatment Associated Neoplasms" EXACT []
synonym: "Treatment Related Cancer" EXACT []
synonym: "Treatment-Related Cancers" EXACT []
synonym: "Treatment-Related Neoplasm" EXACT []
synonym: "Treatment Related Neoplasms" EXACT []
xref: MESH:D016609
xref: RDO:0006982
is_a: DOID:14566 ! disease of cellular proliferation

[Term]
id: DOID:9005716
name: Leiomyoma of Vulva and Esophagus
alt_id: MIM:150700
synonym: "Esophagogastric and vulvar leiomyomatosis" EXACT []
xref: MESH:C537006
is_a: DOID:5138 ! leiomyomatosis
is_a: DOID:9000117 ! Esophageal Neoplasms
is_a: DOID:9004268 ! Uterine Neoplasms

[Term]
id: DOID:9005717
name: Familial Persistent Stuttering 1
def: "This disease is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks." []
synonym: "AP4E1-RELATED CONDITION" BROAD []
synonym: "STUT1" EXACT []
synonym: "STUTTERING, FAMILIAL PERSISTENT, 1" EXACT []
xref: MIM:184450
is_a: DOID:0060243 ! stuttering

[Term]
id: DOID:9005718
name: Hereditary Congenital Facial Paresis 2
synonym: "HCFP2" EXACT []
synonym: "MBS3" EXACT []
synonym: "MOBIUS SYNDROME 3" EXACT []
synonym: "MOEBIUS SYNDROME 3" EXACT []
xref: MIM:604185
is_a: DOID:9001799 ! Hereditary Congenital Facial Paresis
created_by: mtutaj
creation_date: 2019-03-27T09:55:21Z

[Term]
id: DOID:9005719
name: Aneurysmal Bone Cysts
alt_id: MIM:606179
def: "Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures." [MESH:D017824]
synonym: "Aneurysmal Bone Cyst" EXACT []
xref: EFO:1001760
xref: GARD:8646
xref: HP:0012063
xref: MESH:D017824
xref: MONDO:0018815
xref: NCI:C3516
xref: ORDO:480553
is_a: DOID:9008327 ! Bone Cysts

[Term]
id: DOID:9005720
name: Autosomal Recessive Nonsyndromic Deafness 119
def: "Characterized by nonsyndromic mild to profound sensorineural hearing loss. Caused by compound heterozygous mutation in the SPATA5L1 gene on chromosome 15q21." [MIM:619615]
synonym: "autosomal recessive deafness 119" EXACT []
synonym: "DFNB119" EXACT []
synonym: "SPATA5L1-ASSOCIATED DISORDER" BROAD []
xref: MIM:619615
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
created_by: mtutaj
creation_date: 2021-11-18T13:31:26Z

[Term]
id: DOID:9005721
name: Preeclamptic Toxemia
synonym: "EPH Toxemia" EXACT []
synonym: "EPH Toxemias" EXACT []
synonym: "pre-eclamptic toxaemia" EXACT []
synonym: "Pregnancy Toxemia" EXACT []
synonym: "Pregnancy Toxemias" EXACT []
synonym: "toxaemia of pregnancy" EXACT []
synonym: "Toxemia Of Pregnancies" EXACT []
synonym: "toxemia of pregnancy" EXACT []
synonym: "toxemic pregnancy" EXACT []
xref: MESH:C538543
is_a: DOID:10591 ! pre-eclampsia

[Term]
id: DOID:9005722
name: SHORT STATURE, DAUBER-ARGENTE TYPE
def: "This disease is characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, and mildly decreased bone density. Patients have elevated circulating levels of total IGF1 due to impaired proteolysis of IGFBP3 and IGFBP5, resulting in reduced free IGF1." [MIM:619489]
synonym: "SSDA" EXACT []
xref: MIM:619489
is_a: DOID:9007661 ! Dwarfism
created_by: slaulede
creation_date: 2021-10-29T11:32:11Z

[Term]
id: DOID:9005723
name: Multibacillary Leprosy
def: "A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with multibacillary leprosy have six or more lesions with or without positive skin smear results for the causative agent MYCOBACTERIUM LEPRAE. Multibacillary leprosy encompasses borderline lepromatous, midborderline, and lepromatous leprosy." [MESH:D056006]
synonym: "Borderline Lepromatous" EXACT []
synonym: "Midborderline Lepromatous" EXACT []
synonym: "Multibacillary Leprosies" EXACT []
xref: MESH:D056006
is_a: DOID:1024 ! leprosy

[Term]
id: DOID:9005724
name: Fungal Lung Diseases
def: "Pulmonary diseases caused by fungal infections, usually through hematogenous spread." [MESH:D008172]
synonym: "Fungal Lung Disease" EXACT []
synonym: "fungal lung infectious disease" EXACT []
synonym: "Pulmonary Fungal Disease" EXACT []
synonym: "Pulmonary Fungal Diseases" EXACT []
synonym: "Pulmonary Fungal Infection" EXACT []
synonym: "Pulmonary Fungal Infections" EXACT []
xref: EFO:0007278
xref: MESH:D008172
is_a: DOID:1564 ! fungal infectious disease
is_a: DOID:850 ! lung disease
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:9005725
name: Iron Overload
alt_id: MIM:620121
def: "An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)" [MESH:D019190]
synonym: "Iron overload, susceptibility to" RELATED []
xref: MESH:D019190
is_a: DOID:2351 ! iron metabolism disease

[Term]
id: DOID:9005727
name: Infantile Multisystem Neurologic Disease with Osseous Fragility
alt_id: MIM:256720
xref: MESH:C564954
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11476 ! osteoporosis
is_a: DOID:863 ! nervous system disease
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9005560 ! Congenital Hip Dislocation

[Term]
id: DOID:9005728
name: Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities
xref: RDO:9000345
is_a: DOID:0110249 ! cataract 11 multiple types
created_by: rgd
creation_date: 2016-06-10T00:00:00Z

[Term]
id: DOID:9005729
name: Chronic Experimental Pancreatitis
def: "Prolonged inflammation of the pancreas induced experimentally in laboratory animals." []
is_a: DOID:9006190 ! Chronic Pancreatitis
is_a: DOID:9006263 ! Experimental Pancreatitis

[Term]
id: DOID:9005730
name: Amino Acid Transport Disorders, Inborn
def: "Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)" [MESH:D020157]
synonym: "Inherited Amino Acid Transport Disorders" EXACT []
xref: MESH:D020157
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9005732
name: Elliptocytosis 1
alt_id: MIM:611804
synonym: "4.1-Minus Trait" EXACT []
synonym: "4.1- TRAIT" EXACT []
synonym: "EL1" EXACT []
synonym: "Elliptocytosis, Rhesus-Linked Type" EXACT []
synonym: "Protein 4.1 of Erythrocyte Membrane, Defect of" EXACT []
xref: MESH:C567520
is_a: DOID:2373 ! hereditary elliptocytosis

[Term]
id: DOID:9005733
name: Amelia and Terminal Transverse Hemimelia
alt_id: MIM:104400
xref: MESH:C566294
is_a: DOID:9000545 ! Ectromelia

[Term]
id: DOID:9005734
name: Abdominal Pain
def: "Sensation of discomfort, distress, or agony in the abdominal region." [MESH:D015746]
synonym: "Abdominal Pains" EXACT []
synonym: "Colicky Pain" EXACT []
synonym: "Colicky Pains" EXACT []
xref: EFO:0003766
xref: MESH:D015746
xref: RDO:0004684
is_a: DOID:9000641 ! Pain
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:9005735
name: Ulnar Hypoplasia with Lobster-Claw Deformity of Feet
alt_id: MIM:314360
synonym: "Familial ulnar aplasia and lobster claw syndrome" EXACT []
synonym: "Severe ulnar aplasia and lobster claw feet" EXACT []
synonym: "van den Berghe Dequeker syndrome" EXACT []
xref: MESH:C536936
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004402 ! Congenital Upper Extremity Deformities

[Term]
id: DOID:9005736
name: Pallor
def: "A clinical manifestation consisting of an unnatural paleness of the skin." [MESH:D010167]
synonym: "Pallors" EXACT []
xref: MESH:D010167
is_a: DOID:9007472 ! Skin Manifestations

[Term]
id: DOID:9005738
name: Major Depressive Disorder 2
synonym: "MDD2" EXACT []
synonym: "Unipolar Depression 2" EXACT []
xref: MESH:C563875
xref: MIM:608691
xref: MONDO:0012100
is_a: DOID:1470 ! major depressive disorder

[Term]
id: DOID:9005739
name: Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness
alt_id: MIM:235740
xref: MESH:C565518
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:1148 ! polydactyly
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9005740
name: Pyruvate Dehydrogenase Phosphatase Deficiency
alt_id: MIM:608782
synonym: "Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency" EXACT []
synonym: "PDHPD" EXACT []
xref: MESH:C536258
xref: RDO:0001763
is_a: DOID:3650 ! lactic acidosis

[Term]
id: DOID:9005741
name: Intracranial Embolism and Thrombosis
def: "Embolism or thrombosis involving blood vessels which supply intracranial structures. Emboli may originate from extracranial or intracranial sources. Thrombosis may occur in arterial or venous structures." [MESH:D002542]
synonym: "Brain Embolism and Thrombosis" EXACT []
synonym: "Cerebral Embolism and Thrombosis" EXACT []
xref: MESH:D002542
is_a: DOID:6713 ! cerebrovascular disease
is_a: DOID:9003121 ! Thromboembolism

[Term]
id: DOID:9005742
name: Thrombocythemia, X-Linked
synonym: "THCYTX" EXACT []
synonym: "X-linked thrombocytosis" EXACT []
synonym: "X-linked thrombocytosis, familial" EXACT []
xref: MESH:C564532
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:2228 ! thrombocytosis

[Term]
id: DOID:9005743
name: Curly Hair-Acral Keratoderma-Caries Syndrome
alt_id: MIM:607656
xref: MESH:C536220
is_a: DOID:161 ! keratosis
is_a: DOID:216 ! dental caries
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005744
name: Mental Retardation, X-Linked, Syp-Related
synonym: "MRXSYP" EXACT []
xref: MESH:C567584
xref: RDO:0015631
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9005745
name: Stillbirth
def: "The event that a FETUS is born dead or stillborn." [MESH:D050497]
synonym: "Stillbirths" EXACT []
xref: MESH:D050497
is_a: DOID:9001916 ! Fetal Death

[Term]
id: DOID:9005746
name: Colobomatous Macrophthalmia with Microcornea
alt_id: MIM:602499
alt_id: RDO:0014865
synonym: "MACOM" EXACT []
xref: MESH:C566533
is_a: DOID:10124 ! corneal disease
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9005747
name: Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005749
name: Necrosis
alt_id: RDO:0005338
def: "The pathological process occurring in cells that are dying from irreparable injuries. It is caused by the progressive, uncontrolled action of degradative ENZYMES, leading to MITOCHONDRIAL SWELLING, nuclear flocculation, and cell lysis. It is distinct it from APOPTOSIS, which is a normal, regulated cellular process." [MESH:D009336]
synonym: "Necroses" EXACT []
xref: EFO:0009426
xref: MESH:D009336
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9005750
name: Melorheostosis with Osteopoikilosis
xref: MESH:C563593
xref: RDO:0012814
is_a: DOID:11991 ! Osteopoikilosis
is_a: DOID:4253 ! melorheostosis

[Term]
id: DOID:9005751
name: Prostate Cancer, Hereditary, 4
alt_id: MIM:608658
synonym: "hereditary prostate cancer on chromosome 7" EXACT []
synonym: "HPC4" EXACT []
xref: MESH:C563882
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9005752
name: Aortic Aneurysm, Familial Abdominal 2
alt_id: MIM:609782
alt_id: RDO:0009880
synonym: "AAA2" EXACT []
xref: MESH:C565229
xref: RDO:0013931
is_a: DOID:7693 ! abdominal aortic aneurysm

[Term]
id: DOID:9005753
name: Hallux Limitus
def: "A bony proliferation and articular degeneration of the first METATARSOPHALANGEAL JOINT that is characterized by pain and a progressive decrease in the dorsiflexion range of motion." [MESH:D020857]
xref: MESH:D020857
is_a: DOID:381 ! arthropathy
is_a: DOID:9000083 ! Foot Deformities, Acquired
is_a: DOID:9002096 ! Foot Injuries

[Term]
id: DOID:9005754
name: Hypoalgesia
def: "A diminished perception of a painful stimulus to a degree that varies significantly from a normal perception of the same stimulus." []
synonym: "Hypalgesia" EXACT []
is_a: DOID:9000641 ! Pain
is_a: DOID:9008625 ! Somatosensory Disorders

[Term]
id: DOID:9005755
name: Hamartomatous Lip
alt_id: MIM:151640
synonym: "Enlargement of Lower Lip" EXACT []
xref: MESH:C563621
is_a: DOID:9007253 ! Hamartoma
is_a: DOID:9297 ! lip disease

[Term]
id: DOID:9005756
name: Herrmann Syndrome
alt_id: MIM:172500
synonym: "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" EXACT []
xref: MESH:C538113
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:225 ! syndrome
is_a: DOID:557 ! kidney disease
is_a: DOID:9007722 ! Myoclonus
is_a: DOID:9008681 ! Deafness
is_a: DOID:9351 ! diabetes mellitus
is_a: DOID:9743 ! diabetic neuropathy

[Term]
id: DOID:9005757
name: Metapneumovirus infections
def: "Infections with viruses of the genus Metapneumovirus, a genus of the subfamily PNEUMOVIRINAE that includes human Metapneumovirus and avian Metapneumovirus." [MESH:D029121]
synonym: "HMPV infection" NARROW []
synonym: "Metapneumovirus infection" EXACT []
xref: MESH:D029121
xref: PMID:25953917
is_a: DOID:9005956 ! Pneumovirinae infections
created_by: slaulede
creation_date: 2020-12-21T16:35:02Z

[Term]
id: DOID:9005760
name: Presbycusis 1
alt_id: MIM:612448
synonym: "Age-Related Hearing Impairment 1" EXACT []
synonym: "ARHI1" EXACT []
xref: MESH:C567305
is_a: DOID:9000307 ! Presbycusis

[Term]
id: DOID:9005761
name: Mismatch Repair Cancer Syndrome 2
synonym: "MMRCS2" EXACT []
xref: MIM:619096
is_a: DOID:0112182 ! mismatch repair cancer syndrome
created_by: mtutaj
creation_date: 2020-11-30T11:40:57Z

[Term]
id: DOID:9005762
name: Trigonocephaly 2
synonym: "TRIGNO2" EXACT []
xref: MIM:614485
is_a: DOID:9007261 ! Nonsyndromic Trigonocephaly

[Term]
id: DOID:9005763
name: Autoimmune Polyendocrine Syndrome Type 3
synonym: "APS III" EXACT []
synonym: "Autoimmune Polyglandular Syndrome, Type 3" EXACT []
synonym: "Autoimmune Polyglandular Syndrome Type III" EXACT []
is_a: DOID:14040 ! autoimmune polyendocrine syndrome
created_by: mtutaj
creation_date: 2020-01-09T10:01:49Z

[Term]
id: DOID:9005764
name: Short QT Syndrome 1
alt_id: MIM:609620
synonym: "KCNH2-RELATED CONDITION" BROAD []
synonym: "KCNH2-RELATED DISORDERS" BROAD []
synonym: "SHORT QT SYNDROME TYPE 1" EXACT []
synonym: "SQT1" EXACT []
xref: MESH:C566506
is_a: DOID:0050793 ! short QT syndrome
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9005765
name: Autoinflammation with Pulmonary and Cutaneous Vasculitis
def: "A disorder of immune dysregulation manifest as skin lesions (petechiae and purpura) appearing soon after birth followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. Caused by heterozygous mutation in the HCK gene on chromosome 20q11." [MIM:620296]
synonym: "AIPCV" EXACT []
xref: MIM:620296
is_a: DOID:865 ! vasculitis
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: mtutaj
creation_date: 2023-03-31T09:04:39Z

[Term]
id: DOID:9005767
name: Scoliosis, Arachnodactyly, and Blindness
alt_id: MIM:612445
xref: MESH:C567309
is_a: DOID:0060249 ! scoliosis
is_a: DOID:1432 ! blindness
is_a: DOID:9005367 ! Arachnodactyly

[Term]
id: DOID:9005768
name: Thinness
def: "A state of insufficient flesh on the body usually defined as having a body weight less than skeletal and physical standards. Depending on age, sex, and genetic background, a BODY MASS INDEX of less than 18.5 is considered as underweight." [MESH:D013851]
synonym: "Leanness" EXACT []
synonym: "Leanness, inherited" NARROW []
synonym: "Underweight" EXACT []
xref: MESH:D013851
is_a: DOID:9007633 ! Body Weight

[Term]
id: DOID:9005769
name: Hypotonia, Seizures, and Precocious Puberty
alt_id: MIM:612777
xref: MESH:C567566
is_a: DOID:1826 ! epilepsy
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9007284 ! Precocious Puberty

[Term]
id: DOID:9005770
name: Oocyte Maturation Defect 3
synonym: "EMPTY FOLLICLE SYNDROME" EXACT []
synonym: "Oocyte/zygote/embryo maturation arrest 3" EXACT []
synonym: "OOMD3" EXACT []
synonym: "OZEMA3" EXACT []
xref: MIM:617712
is_a: DOID:9007456 ! Female Infertility
created_by: rgd
creation_date: 2017-11-21T00:00:00Z

[Term]
id: DOID:9005771
name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7
def: "An autosomal dominant disorder characterized by variable manifestations associated with shortened telomeres. Caused by heterozygous mutation in the NAF1 gene on chromosome 4q32." [MIM:620365]
synonym: "NAF1-RELATED CONDITION" EXACT []
synonym: "PFBMFT7" EXACT []
xref: MIM:620365
is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related
created_by: mtutaj
creation_date: 2023-05-12T09:24:45Z

[Term]
id: DOID:9005772
name: Chromosome 16, Trisomy
synonym: "Mosaic trisomy 16" EXACT []
synonym: "Trisomy 16" EXACT []
xref: MESH:C538041
xref: NCI:C125660
xref: NCI:C37866
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9005773
name: Intestinal Polyposis, Osteomas, Sebaceous Cysts
synonym: "Polyposis coli and multiple hard and soft tissue tumors" EXACT []
xref: MESH:C535644
xref: RDO:0000878
is_a: DOID:9009045 ! Gardner Syndrome

[Term]
id: DOID:9005774
name: Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity
alt_id: MIM:609889
xref: MESH:C563691
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9006262 ! Cytomegalovirus Infections
is_a: DOID:9008671 ! T-Lymphocytopenia

[Term]
id: DOID:9005775
name: Perinatal Asphyxia
def: "A pathological condition caused by lack of oxygen, manifested in impending or actual cessation of life at the fetal or neonatal stage." []
synonym: "fetal anoxia" NARROW []
synonym: "intrauterine asphyxia" NARROW []
is_a: DOID:9001041 ! Asphyxia
created_by: rgd
creation_date: 2017-06-27T00:00:00Z

[Term]
id: DOID:9005776
name: Kyrle Disease
alt_id: MIM:149500
synonym: "Hyperkeratosis follicularis et parafollicularis in cutem penetrans" EXACT []
synonym: "Kyrle's disease" EXACT []
xref: MESH:C538130
is_a: DOID:2734 ! keratosis follicularis

[Term]
id: DOID:9005777
name: Nevus of Ota
def: "A macular lesion on the side of the FACE, involving the CONJUNCTIVA and EYELIDS, as well as the adjacent facial skin, SCLERA; OCULOMOTOR MUSCLES; and PERIOSTEUM. Histological features vary from those of a MONGOLIAN SPOT to those of a BLUE NEVUS." [MESH:D009507]
synonym: "Ota's Nevus" EXACT []
synonym: "Ota Nevus" EXACT []
synonym: "Otas Nevus" EXACT []
xref: EFO:1000396
xref: MESH:D009507
xref: RDO:0006218
is_a: DOID:9005120 ! Pigmented Nevus

[Term]
id: DOID:9005778
name: Annular Epidermolytic Ichthyosis
def: "A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. (Orphanet)" []
synonym: "AEI" EXACT []
synonym: "annular epidermolytic ichthyosis" EXACT []
synonym: "CIEHK" EXACT []
xref: MESH:C564367
xref: MONDO:0011870
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:4603 ! epidermolytic hyperkeratosis
created_by: mtutaj
creation_date: 2022-12-06T08:15:37Z

[Term]
id: DOID:9005779
name: Polyploidy
def: "The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc." [MESH:D011123]
synonym: "Polyploid" EXACT []
synonym: "Polyploid Cell" EXACT []
synonym: "Polyploid Cells" EXACT []
synonym: "Polyploidies" EXACT []
synonym: "Polyploids" EXACT []
xref: MESH:D011123
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9005780
name: Spongiform Encephalopathy with Neuropsychiatric Features
alt_id: MIM:606688
xref: MESH:C564678
is_a: DOID:150 ! disease of mental health
is_a: DOID:649 ! prion disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:9005781
name: Adams-Oliver Syndrome 5
def: "A rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). (OMIM)" []
synonym: "AOS5" EXACT []
synonym: "NOTCH1-RELATED CONDITION" BROAD []
synonym: "NOTCH1-RELATED DISORDER" BROAD []
xref: MIM:616028
is_a: DOID:0060227 ! Adams-Oliver syndrome
created_by: rgd
creation_date: 2016-07-12T00:00:00Z

[Term]
id: DOID:9005782
name: Carotid Intimal Medial Thickness 1
alt_id: MIM:609338
synonym: "CIMT1" EXACT []
synonym: "Intimal Medial Thickness of Internal Carotid Artery" EXACT []
xref: MESH:C563733
xref: RDO:0012917
is_a: DOID:1936 ! atherosclerosis

[Term]
id: DOID:9005783
name: Primary Basilar Impression
alt_id: MIM:109500
xref: MESH:C566226
is_a: DOID:9001121 ! Platybasia

[Term]
id: DOID:9005784
name: Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification
alt_id: MIM:182255
xref: MESH:C566687
is_a: DOID:0080006 ! bone development disease

[Term]
id: DOID:9005785
name: Altitude Sickness
alt_id: MIM:616182
def: "Multiple symptoms associated with reduced oxygen at high ALTITUDE." [MESH:D000532]
synonym: "acute hypobaric hypoxia" EXACT []
synonym: "Altitude Hypoxia" EXACT []
synonym: "Altitude Hypoxias" EXACT []
synonym: "Chronic mountain sickness, susceptibility to" RELATED []
synonym: "Monge's disease" EXACT []
synonym: "Mountain Sickness" EXACT []
xref: EFO:0010143
xref: EFO:1000782
xref: MESH:D000532
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:9005786
name: RHYNS Syndrome
alt_id: MIM:602152
synonym: "Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia" EXACT []
synonym: "Retinitis pigmentosa syndrome" EXACT []
synonym: "RHYNS" EXACT []
xref: MESH:C537612
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:225 ! syndrome
is_a: DOID:9406 ! hypopituitarism

[Term]
id: DOID:9005787
name: Dimauro Disease
alt_id: MIM:261670
synonym: "Deficiency Mutase Phosphoglycerate" EXACT []
synonym: "Glycogen Storage Disease X" EXACT []
synonym: "Gsd10" EXACT []
synonym: "Gsd X" EXACT []
synonym: "Human muscle phosphoglycerate mutase deficiency" EXACT []
synonym: "Myopathy due to phosphoglycerate mutase deficiency" EXACT []
synonym: "Pgam Deficiency" EXACT []
synonym: "PGAMM deficiency" EXACT []
synonym: "Phosphoglycerate Mutase, Muscle, Deficiency of" EXACT []
xref: MESH:C536176
is_a: DOID:0080000 ! muscular disease
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9005789
name: Hypertrophic Cardiomyopathy 28
def: "Characterized by asymmetric septal hypertrophy, atrial fibrillation and nonsustained ventricular tachycardia, and risk of sudden death. Caused by heterozygous mutation in the FHOD3 gene on chromosome 18q12. (OMIM)" []
synonym: "CMH28" EXACT []
synonym: "familial hypertrophic cardiomyopathy 28" EXACT []
synonym: "FHOD3-related condition" BROAD []
xref: MIM:619402
xref: MONDO:0030317
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy
created_by: mtutaj
creation_date: 2021-07-01T15:33:43Z

[Term]
id: DOID:9005790
name: Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type
alt_id: MIM:136630
synonym: "INTELLECTUAL DISABILITY, FRA12A TYPE" EXACT []
synonym: "mental retardation, FRA12A type" EXACT []
xref: MESH:C566980
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:1059 ! intellectual disability

[Term]
id: DOID:9005791
name: Branchiootic Syndrome 2
alt_id: MIM:120502
alt_id: RDO:0013894
synonym: "BOS2" EXACT []
synonym: "BO Syndrome 2" EXACT []
xref: MESH:C565171
is_a: DOID:0060232 ! branchiootic syndrome

[Term]
id: DOID:9005792
name: Chromosome 9 Inversion or Duplication
synonym: "Trisomy 9 translocation" EXACT []
xref: MESH:C538021
xref: RDO:0003955
is_a: DOID:9007973 ! Genetic Translocation

[Term]
id: DOID:9005793
name: African Hemochromatosis
synonym: "African Siderosis" EXACT []
xref: MESH:C579887
xref: RDO:0015861
is_a: DOID:10328 ! siderosis

[Term]
id: DOID:9005795
name: Schaefer Stein Oshman Syndrome
synonym: "Craniodiaphyseal dysplasia, dominant" EXACT []
synonym: "Dominantly inherited craniodiaphyseal dysplasia" EXACT []
xref: MESH:C536627
xref: RDO:0002263
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005797
name: Pseudolymphoma
def: "A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" [MESH:D019310]
synonym: "Lymphocytoma" EXACT []
synonym: "Lymphocytomas" EXACT []
synonym: "Pseudolymphomas" EXACT []
synonym: "Reactive Lymphoid Hyperplasia" EXACT []
synonym: "Reactive Lymphoid Hyperplasias" EXACT []
xref: EFO:1001831
xref: MESH:D019310
xref: RDO:0007267
is_a: DOID:75 ! lymphatic system disease

[Term]
id: DOID:9005798
name: Jeune Syndrome Situs Inversus
xref: MESH:C537572
xref: RDO:0003436
is_a: DOID:12714 ! Ellis-Van Creveld syndrome
is_a: DOID:758 ! situs inversus

[Term]
id: DOID:9005799
name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8
def: "An autosomal dominant disorder characterized by the onset of progressive pulmonary fibrosis in adulthood. Caused by heterozygous mutation in the POT1 gene on chromosome 7q31." [MIM:620367]
synonym: "PFBMFT8" EXACT []
xref: MIM:620367
is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related
created_by: mtutaj
creation_date: 2023-05-12T09:22:56Z

[Term]
id: DOID:9005800
name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
def: "This disease is an X-linked recessive disorder characterized by the onset of inflammatory symptoms in the first decade of life in male patients. The disorder results from a defect in ELF4, which normally acts as a negative regulator of inflammatory disease." [MIM:301074]
synonym: "AIFBL2" EXACT []
synonym: "DEFICIENCY IN ELF4, X-LINKED" EXACT []
synonym: "DEX" EXACT []
xref: MIM:301074
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:9005986 ! Familial Behcet-Like Autoinflammatory Syndrome
created_by: slaulede
creation_date: 2022-06-10T10:48:26Z

[Term]
id: DOID:9005801
name: Diets-Jongmans Syndrome
def: "An autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt. Caused by heterozygous mutation in the KDM3B gene on chromosome 5q31. (OMIM)" []
synonym: "DIJOS" EXACT []
synonym: "IDDFD" EXACT []
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH DISTINCTIVE FACIAL DYSMORPHISM" EXACT []
xref: EFO:0010740
xref: MIM:618846
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
created_by: mtutaj
creation_date: 2020-06-19T15:00:45Z

[Term]
id: DOID:9005802
name: Dennis Fairhurst Moore Syndrome
synonym: "Hallermam Streiff like syndrome" EXACT []
xref: MESH:C538210
xref: RDO:0004154
is_a: DOID:225 ! syndrome
is_a: DOID:4534 ! Hallermann-Streiff syndrome

[Term]
id: DOID:9005803
name: Intranuclear Rod Myopathy
synonym: "Intranuclear Nemaline Rod Myopathy" EXACT []
synonym: "Nemaline Myopathy with Exclusively Intranuclear Rods" EXACT []
xref: MESH:C580202
xref: RDO:0015901
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:9005804
name: Vulvar Neoplasms
def: "Tumors or cancer of the VULVA." [MESH:D014846]
synonym: "neoplasm of vulva" EXACT []
synonym: "vulval neoplasm" EXACT []
synonym: "vulva neoplasm" EXACT []
synonym: "vulva neoplasms" EXACT []
synonym: "vulvar neoplasm" EXACT []
synonym: "vulvar tumor" EXACT []
xref: MESH:D014846
xref: NCI:C3443
is_a: DOID:2059 ! vulvar disease
is_a: DOID:9007399 ! Female Genital Neoplasms

[Term]
id: DOID:9005805
name: Thrombocytopenia 5
def: "An autosomal dominant disorder characterized by a decreased number of platelets and a bleeding tendency. Affected individuals have an increased susceptibility to the development of hematologic malignancies, and possibly to solid neoplasms. (OMIM)" []
synonym: "ETV6-RELATED CONDITION" BROAD []
synonym: "THC5" EXACT []
synonym: "THROMBOCYTOPENIA 5 WITH INCREASED SUSCEPTIBILITY TO MALIGNANCY" EXACT []
synonym: "THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 5" EXACT []
xref: MIM:616216
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:9005806
name: Nasopalpebral Lipoma Coloboma Syndrome
alt_id: MIM:167730
synonym: "Palpebral coloboma lipoma Syndrome" EXACT []
xref: MESH:C538338
is_a: DOID:12270 ! coloboma
is_a: DOID:2173 ! eyelid benign neoplasm
is_a: DOID:225 ! syndrome
is_a: DOID:3315 ! lipoma
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005807
name: Veterinary Venereal Tumors
def: "Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur." [MESH:D014685]
synonym: "Transmissible Venereal Tumor" EXACT []
synonym: "Transmissible Venereal Tumors" EXACT []
synonym: "Veterinary Venereal Tumor" EXACT []
xref: MESH:D014685
xref: NCI:C162473
is_a: DOID:9004985 ! Animal Diseases
is_a: DOID:9007150 ! Urogenital Neoplasms

[Term]
id: DOID:9005808
name: Distal Renal Tubular Acidosis 3, Autosomal Recessive
alt_id: MESH:C537758
alt_id: MESH:C566428
synonym: "autosomal recessive distal renal tubular acidosis-3 with or without sensorineural hearing loss" EXACT []
synonym: "autosomal recessive renal tubular acidosis with preserved hearing" NARROW []
synonym: "distal renal tubular acidosis, autosomal recessive, with late-onset sensorineural hearing loss" NARROW []
synonym: "distal renal tubular acidosis, recessive" BROAD []
synonym: "distal RTA, autosomal recessive" BROAD []
synonym: "DRTA3" EXACT []
synonym: "RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS" EXACT []
synonym: "RTADR" EXACT []
xref: MIM:602722
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9007406 ! Distal Renal Tubular Acidosis

[Term]
id: DOID:9005809
name: Thyroid Nodule
def: "A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR)." [MESH:D016606]
synonym: "Thyroid Nodules" EXACT []
xref: EFO:1001436
xref: MESH:D016606
is_a: DOID:9004547 ! Thyroid Neoplasms

[Term]
id: DOID:9005810
name: Autosomal Dominant Intellectual Developmental Disorder 59
synonym: "Autosomal Dominant Mental Retardation 59" EXACT []
synonym: "intellectual developmental disorder 59" EXACT []
synonym: "MRD59" EXACT []
xref: MIM:618522
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2020-01-23T12:51:25Z

[Term]
id: DOID:9005811
name: HUPRA Syndrome
def: "This disease is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely." []
synonym: "HUPRAS" EXACT []
synonym: "HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS" EXACT []
synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" EXACT []
xref: MIM:613845
is_a: DOID:1074 ! kidney failure
is_a: DOID:1920 ! hyperuricemia
is_a: DOID:225 ! syndrome
is_a: DOID:6432 ! pulmonary hypertension
is_a: DOID:9007331 ! Alkalosis

[Term]
id: DOID:9005812
name: Aplastic Anemia, Idiopathic
xref: MESH:C538494
xref: RDO:0004447
is_a: DOID:12449 ! aplastic anemia

[Term]
id: DOID:9005813
name: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES
def: "This disease is an autosomal dominant disorder with a nonspecific phenotype of developmental delay with other possible features." [MIM:619575]
synonym: "DDIB" EXACT []
synonym: "DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES" NARROW []
xref: MIM:619575
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2021-12-09T15:49:29Z

[Term]
id: DOID:9005814
name: Prader-Willi Habitus, Osteopenia, and Camptodactyly
alt_id: MIM:264010
synonym: "Urban Rogers Meyer syndrome" EXACT []
xref: MESH:C538276
is_a: DOID:11476 ! osteoporosis
is_a: DOID:11983 ! Prader-Willi syndrome

[Term]
id: DOID:9005815
name: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive
synonym: "Progressive External Ophthalmoplegia, Autosomal Recessive" EXACT []
synonym: "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC" NARROW []
xref: MESH:C564926
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:12558 ! chronic progressive external ophthalmoplegia

[Term]
id: DOID:9005816
name: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS
def: "This disease is characterized by onset of severe and frequent epileptic spasms within the first year of life. Affected individuals have global developmental delay with delayed walking and poor or absent speech." [MIM:619373]
synonym: "NEDIES" EXACT []
xref: MIM:619373
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2022-02-11T15:59:09Z

[Term]
id: DOID:9005817
name: Czech Dysplasia, Metatarsal Type
alt_id: MIM:609162
synonym: "Czech dysplasia" EXACT []
synonym: "OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA" EXACT []
synonym: "Progressive Pseudorheumatoid Dysplasia with Hypoplastic Toes" EXACT []
synonym: "Spondyloarthropathy with Short Third and Fourth Toes" EXACT []
synonym: "spondyloepiphyseal dysplasia with precocious osteoarthritis" EXACT []
xref: MESH:C535766
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9005818
name: Serum Sickness
def: "Immune complex disease caused by the administration of foreign serum or serum proteins and characterized by fever, lymphadenopathy, arthralgia, and urticaria. When they are complexed to protein carriers, some drugs can also cause serum sickness when they act as haptens inducing antibody responses." [MESH:D012713]
synonym: "Serum Sicknesses" EXACT []
xref: MESH:D012713
xref: RDO:0006553
is_a: DOID:1557 ! hypersensitivity reaction type III disease
is_a: DOID:9005236 ! Drug Eruptions

[Term]
id: DOID:9005819
name: Hereditary Hemorrhagic Telangiectasia, Type 2
alt_id: MIM:600376
synonym: "Haemorrhagic telangiectasia 2" NARROW []
synonym: "HHT2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED," EXACT []
synonym: "LIP TELANGIECTASIA" NARROW []
synonym: "ORAL CAVITY TELANGIECTASIA" NARROW []
synonym: "Osler-Rendu-Weber Syndrome 2" EXACT []
synonym: "TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II" EXACT []
xref: MESH:C537139
is_a: DOID:1270 ! hereditary hemorrhagic telangiectasia

[Term]
id: DOID:9005820
name: Congenital Myopathy with Excess of Muscle Spindles
alt_id: RDO:0015110
xref: MESH:C566896
is_a: DOID:0081337 ! congenital myopathy

[Term]
id: DOID:9005821
name: Intestinal Lymphangiectasis
alt_id: MIM:152800
def: "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by DIARRHEA; HYPOPROTEINEMIA; peripheral and/or abdominal EDEMA; and PROTEIN-LOSING ENTEROPATHIES." [MESH:D008201]
synonym: "intestinal lymphangiectases" EXACT []
synonym: "intestinal lymphangiectasia" EXACT []
xref: MESH:D008201
is_a: DOID:9002213 ! Lymphatic Abnormalities
is_a: DOID:9002335 ! Lymphangiectasis

[Term]
id: DOID:9005822
name: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS
def: "An autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum." [MIM:618476]
synonym: "BANDDOS" EXACT []
synonym: "CSF1R-RELATED ADULT-ONSET LEUKOENCEPHALOPATHY" BROAD []
synonym: "CSF1R-RELATED CONDITION" BROAD []
xref: EFO:0010268
xref: MIM:618476
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:9006534 ! Nervous System Malformations
is_a: DOID:9006667 ! Dysosteosclerosis
created_by: slaulede
creation_date: 2019-08-05T12:02:08Z

[Term]
id: DOID:9005823
name: Lymphedema, Cardiac Septal Defects, and Characteristic Facies
alt_id: DOID:9002392
synonym: "Autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes" EXACT []
synonym: "Irons-Bhan Syndrome" EXACT []
synonym: "Irons-Bianchi syndrome" EXACT []
synonym: "Lymphedema, atrial septal defect, and characteristic facial changes" EXACT []
synonym: "lymphedema, atrial septal defect, and characteristic facies" EXACT []
xref: GARD:284
xref: MESH:C535539
xref: MESH:C567398
xref: MIM:601927
xref: MONDO:0011166
xref: ORDO:86915
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:225 ! syndrome
is_a: DOID:4977 ! lymphedema
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005824
name: X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction
alt_id: RDO:0013383
synonym: "HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE" RELATED []
xref: MESH:C564408
is_a: DOID:0080072 ! intestinal pseudo-obstruction
is_a: DOID:9006382 ! X-Linked Hydrocephalus

[Term]
id: DOID:9005825
name: Nevi and Melanomas
def: "A collective term for the various types of nevi and melanomas." [MESH:D018326]
xref: MESH:D018326
xref: RDO:0006092
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:9005826
name: Congenital Cataracts, Facial Dysmorphism, and Neuropathy
alt_id: MIM:604168
synonym: "CCFDN" EXACT []
synonym: "Congenital cataract with facial dysmorphism and neuropathy" EXACT []
xref: MESH:C565822
is_a: DOID:83 ! cataract
is_a: DOID:863 ! nervous system disease
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005827
name: Spontaneous Fractures
def: "Fractures occurring as a result of disease of a bone or from some undiscoverable cause, and not due to trauma. (Dorland, 27th ed)" [MESH:D005598]
synonym: "Pathological Fracture" EXACT []
synonym: "Pathological Fractures" EXACT []
synonym: "Pathologic Fracture" EXACT []
synonym: "Pathologic Fractures" EXACT []
synonym: "Spontaneous Fracture" EXACT []
xref: MESH:D005598
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9005828
name: Sickle Cell Trait
def: "The condition of being heterozygous for hemoglobin S." [MESH:D012805]
synonym: "HEMOGLOBIN D (IBADAN)" RELATED []
synonym: "Sickle Cell Traits" EXACT []
xref: MESH:D012805
is_a: DOID:10923 ! sickle cell anemia

[Term]
id: DOID:9005829
name: Pseudopyogenic Granuloma
def: "Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells. (MESH)" []
synonym: "angiolymphoid hyperplasia with eosinophilia" EXACT []
synonym: "pseudopyogenic granulomas" EXACT []
xref: MESH:D000796
is_a: DOID:37 ! skin disease
is_a: DOID:9001371 ! Eosinophilia
is_a: DOID:9002019 ! Granuloma
created_by: mtutaj
creation_date: 2021-02-19T16:00:08Z

[Term]
id: DOID:9005830
name: Hyaloideoretinal Degeneration of Wagner
alt_id: MIM:143200
synonym: "Erosive vitreoretinopathy" EXACT []
synonym: "ERVR" EXACT []
synonym: "VCAN-RELATED CONDITION" EXACT []
synonym: "Vcan-Related Vitreoretinopathy" EXACT []
synonym: "Wagner Disease" EXACT []
synonym: "Wagner Syndrome" EXACT []
synonym: "Wagner Syndrome 1" EXACT []
synonym: "Wagner syndrome type 1" EXACT []
synonym: "Wagner vitreoretinal degeneration" EXACT []
synonym: "WAGNER VITREORETINOPATHY" EXACT []
synonym: "WGN1" EXACT []
synonym: "WGVRP" EXACT []
xref: MESH:C536075
xref: RDO:0001499
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:9005831
name: Coronal Synostosis, Syndactyly and Jejunal Atresia
xref: MESH:C536445
is_a: DOID:10486 ! intestinal atresia
is_a: DOID:11971 ! synostosis

[Term]
id: DOID:9005832
name: Amyloid Plaques
alt_id: MIM:269800
def: "Accumulations of extracellularly deposited AMYLOID FIBRILS within tissues." [MESH:D058225]
synonym: "Amyloid Deposit" EXACT []
synonym: "amyloid deposits" EXACT []
synonym: "amyloid plaque" EXACT []
synonym: "Neuritic Plaque" EXACT []
synonym: "Neuritic Plaques" EXACT []
synonym: "Senile Plaque" EXACT []
synonym: "senile plaques" EXACT []
xref: MESH:D058225
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9005833
name: Aberrant Subclavian Artery
synonym: "Aberrant left subclavian artery" EXACT []
synonym: "Aberrant right subclavian artery" EXACT []
xref: MESH:C535555
is_a: DOID:9000123 ! Deglutition Disorders
is_a: DOID:9001665 ! Aneurysm
is_a: DOID:9002682 ! Cardiovascular Abnormalities

[Term]
id: DOID:9005834
name: Ependymomas
def: "Glioma derived from EPENDYMOGLIAL CELLS that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors. (From DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9)" [MESH:D004806]
synonym: "ependymal neoplasm" EXACT []
synonym: "ependymal tumor" EXACT []
synonym: "ependymoma" EXACT []
xref: EFO:1000027
xref: EFO:1000028
xref: MESH:D004806
xref: NCI:C21951
is_a: DOID:3070 ! high grade glioma

[Term]
id: DOID:9005835
name: Congenital Abnormalities
def: "Malformations of organs or body parts during development in utero." [MESH:D000013]
synonym: "Birth Defect" EXACT []
synonym: "Birth Defects" EXACT []
synonym: "Congenital Abnormality" EXACT []
synonym: "Congenital Defect" EXACT []
synonym: "Congenital Defects" EXACT []
synonym: "Deformities" EXACT []
synonym: "Deformity" EXACT []
xref: EFO:0003915
xref: MESH:D000013
is_a: DOID:9004324 ! Congenital, Hereditary, and Neonatal Diseases and Abnormalities

[Term]
id: DOID:9005836
name: Central Areolar Choroidal Dystrophy 2
alt_id: MIM:613105
synonym: "CACD2" EXACT []
synonym: "progressive macular dystrophy" EXACT []
xref: MESH:C567750
is_a: DOID:9822 ! partial central choroid dystrophy

[Term]
id: DOID:9005837
name: Cholangiofibrosis
def: "Any pathological condition where fibrous connective tissue invades the bile duct, usually as a consequence of inflammation or other injury." []
synonym: "biliary duct fibrosis" EXACT []
synonym: "biliary sclerosis" EXACT []
synonym: "fibrosis of bile duct" EXACT []
xref: RDO:9000784
is_a: DOID:4138 ! bile duct disease
is_a: DOID:9000784 ! Fibrosis
created_by: rgd
creation_date: 2015-10-12T00:00:00Z

[Term]
id: DOID:9005838
name: Familial Thoracic Aortic Aneurysm 11
synonym: "AAT11" EXACT []
synonym: "AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO" RELATED []
xref: MIM:617349
is_a: DOID:14004 ! thoracic aortic aneurysm

[Term]
id: DOID:9005839
name: Hypoplastic Left Heart Syndrome 2
synonym: "HLHS2" EXACT []
xref: MIM:614435
is_a: DOID:9955 ! hypoplastic left heart syndrome

[Term]
id: DOID:9005840
name: Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
synonym: "MGCPH" EXACT []
xref: MIM:248000
is_a: DOID:9003816 ! Macrocephaly

[Term]
id: DOID:9005841
name: Epidermal Cyst
alt_id: MIM:131600
def: "Intradermal or subcutaneous saclike structure, the wall of which is stratified epithelium containing keratohyalin granules." [MESH:D004814]
synonym: "EIC" EXACT []
synonym: "epidermal cysts" EXACT []
synonym: "Epidermal inclusion cyst" EXACT []
synonym: "epidermoid cyst" EXACT []
synonym: "epidermoid cysts" EXACT []
synonym: "sebaceous cyst" EXACT []
synonym: "sebaceous cysts" EXACT []
xref: EFO:1000243
xref: MESH:D004814
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9005842
name: Langer Mesomelic Dysplasia
alt_id: MIM:249700
synonym: "Dyschondrosteosis Homozygous" EXACT []
synonym: "Langer Mesomelic Dwarfism" EXACT []
synonym: "Langer mesomelic dyspalsia" EXACT []
synonym: "LANGER MESOMELIC DYSPLASIA SYNDROME" EXACT []
synonym: "Langer type of mesomelic dwarfism" EXACT []
synonym: "LMD" EXACT []
synonym: "Mesomelic dwarfism Langer type" EXACT []
synonym: "Mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type" EXACT []
xref: MESH:C537267
xref: NCI:C126876
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9009006 ! Mesomelic Dysplasia

[Term]
id: DOID:9005843
name: Hereditary Spastic Paralysis, Infantile Onset Ascending
alt_id: MIM:607225
synonym: "Iahsp" EXACT []
synonym: "Spastic Paralysis, Infantile Onset Ascending" EXACT []
xref: MESH:C537217
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:9005844
name: Tooth Fractures
def: "Break or rupture of a tooth or tooth root." [MESH:D014082]
synonym: "Tooth Fracture" EXACT []
xref: MESH:D014082
is_a: DOID:9003584 ! Tooth Injuries

[Term]
id: DOID:9005846
name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28
def: "This disease is characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs. Most patients have limited ambulation or become wheelchair-bound within a few decades, and respiratory insufficiency commonly occurs. Laboratory studies show increased serum creatine kinase, elevated fasting blood glucose levels, and normal cholesterol levels." [MIM:620375]
synonym: "autosomal recessive limb-girdle muscular dystrophy-28" EXACT []
synonym: "LGMDR28" EXACT []
synonym: "MYOPATHY, LIMB-GIRDLE, ADULT-ONSET" EXACT []
synonym: "MYPLG" EXACT []
xref: MIM:620375
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy
created_by: slaulede
creation_date: 2023-07-18T12:46:21Z

[Term]
id: DOID:9005847
name: Passive-Aggressive Personality Disorder
def: "A personality disorder characterized by an indirect resistance to demands for adequate social and occupational performance; anger and opposition to authority and the expectations of others that is expressed covertly by obstructionism, procrastination, stubbornness, dawdling, forgetfulness, and intentional inefficiency. (Dorland, 27th ed)" [MESH:D010324]
synonym: "Negativistic Personality Disorder" EXACT []
synonym: "Negativistic Personality Disorders" EXACT []
synonym: "Passive-Aggressive Personalities" EXACT []
synonym: "Passive Aggressive Personality" EXACT []
synonym: "Passive Aggressive Personality Disorders" EXACT []
xref: MESH:D010324
is_a: DOID:1510 ! personality disorder

[Term]
id: DOID:9005848
name: WEISS-KRUSZKA SYNDROME
def: "An autosomal dominant multiple congenital anomaly syndrome characterized by variable but usually mild global developmental delay and common craniofacial abnormalities, including ptosis, abnormal head shape, downslanting palpebral fissures, epicanthal folds, arched eyebrows, and short upturned nose." [MIM:618619]
synonym: "METOPIC RIDGING-PTOSIS-FACIAL DYSMORPHISM SYNDROME" EXACT []
synonym: "WSKA" EXACT []
xref: EFO:0010635
xref: MIM:618619
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: slaulede
creation_date: 2019-11-14T15:37:36Z

[Term]
id: DOID:9005849
name: Radiation Sensitivity of Natural Killer Activity
alt_id: MIM:312210
synonym: "X-Ray NK Sensitivity" EXACT []
xref: MESH:C564066
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:2914 ! immune system disease

[Term]
id: DOID:9005850
name: Hereditary Optic Atrophies
def: "Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER)." [MESH:D015418]
synonym: "AUTOSOMAL RECESSIVE OPTIC ATROPHY" NARROW []
synonym: "Hereditary Optic Atrophy" EXACT []
synonym: "OPTIC ATROPHY, RECESSIVE" NARROW []
xref: MESH:D015418
xref: MONDO:0043878
xref: NCI:C34864
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9005851
name: 46, XX Disorders of Sex Development
def: "Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical." [MESH:D058489]
synonym: "46,XX DISORDER OF SEX DEVELOPMENT" EXACT []
synonym: "46,XX DSD" EXACT []
synonym: "female pseudohermaphroditism" EXACT []
synonym: "female pseudohermaphroditisms" EXACT []
xref: MESH:D058489
is_a: DOID:1923 ! disorder of sexual development

[Term]
id: DOID:9005852
name: Spinocerebellar Ataxia with Dysmorphism
alt_id: MIM:271270
xref: MESH:C564802
is_a: DOID:9001487 ! Facies
is_a: DOID:9002121 ! Spinocerebellar Ataxias

[Term]
id: DOID:9005853
name: Pulmonary Surfactant Metabolism Dysfunction 4
alt_id: MIM:300770
synonym: "congenital pulmonary alveolar proteinosis 4" EXACT []
synonym: "CSF2RA Deficiency" EXACT []
synonym: "PAP due to CSF2RA Deficiency" EXACT []
synonym: "SMDP4" EXACT []
xref: MESH:C567461
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9006807 ! Congenital Pulmonary Alveolar Proteinosis

[Term]
id: DOID:9005854
name: Factor XIII, A Subunit, Deficiency Of
alt_id: MIM:613225
def: "An autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing." []
synonym: "FACTOR XIII SUBUNIT A DEFICIENCY" EXACT []
xref: MESH:C567691
is_a: DOID:2211 ! factor XIII deficiency

[Term]
id: DOID:9005855
name: Microcephalic Primordial Dwarfism Toriello Type
alt_id: MIM:251190
synonym: "Microcephalic primordial dwarfism and cataracts" EXACT []
xref: MESH:C537321
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:83 ! cataract
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9005856
name: Basaran Yilmaz Syndrome
synonym: "Keratoderma, hypotrichosis and leukonychia totalis" EXACT []
xref: MESH:C537660
xref: MONDO:0021979
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:225 ! syndrome
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:4123 ! nail disease
is_a: DOID:4535 ! hypotrichosis

[Term]
id: DOID:9005857
name: Prostate Cancer, Hereditary, 8
alt_id: MIM:602759
synonym: "HPC8" EXACT []
synonym: "PCAP" EXACT []
synonym: "predisposing for prostate cancer" BROAD []
xref: MESH:C566426
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9005858
name: Periodontal Atrophy
def: "Degradation or wasting of the PERIODONTIUM tissues that may involve the gum (GINGIVA), the alveolar bone (ALVEOLAR PROCESS), the DENTAL CEMENTUM, or the PERIODONTAL LIGAMENT." [MESH:D055093]
synonym: "Atrophy of Periodontium" EXACT []
synonym: "Gingivo-Osseous Atrophies" EXACT []
synonym: "Gingivo Osseous Atrophy" EXACT []
synonym: "Periodontal Atrophies" EXACT []
synonym: "Periodontium Atrophies" EXACT []
synonym: "Periodontium Atrophy" EXACT []
xref: MESH:D055093
is_a: DOID:3388 ! periodontal disease

[Term]
id: DOID:9005859
name: Reese Retinal Dysplasia
alt_id: MIM:266400
xref: MESH:C564854
is_a: DOID:9006597 ! Retinal Dysplasia

[Term]
id: DOID:9005860
name: Hematologic Pregnancy Complications
def: "The co-occurrence of pregnancy and a blood disease (HEMATOLOGIC DISEASES) which involves BLOOD CELLS or COAGULATION FACTORS. The hematologic disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS." [MESH:D011250]
synonym: "Hematological Pregnancy Complication" EXACT []
synonym: "Hematological Pregnancy Complications" EXACT []
synonym: "Hematologic Pregnancy Complication" EXACT []
synonym: "Pregnancies, Hematologic Complications" EXACT []
xref: MESH:D011250
is_a: DOID:74 ! hematopoietic system disease
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9005861
name: Achard-Thiers Syndrome
synonym: "Adenoma associated virilism of older women" EXACT []
synonym: "Bearded female with diabetes" EXACT []
synonym: "Diabetes in bearded women" EXACT []
synonym: "Diabetic-bearded woman syndrome" EXACT []
xref: MESH:C536013
is_a: DOID:225 ! syndrome
is_a: DOID:9002661 ! Diabetes Complications
is_a: DOID:9002762 ! Ovarian Neoplasms
is_a: DOID:9005330 ! Virilism

[Term]
id: DOID:9005862
name: Isochromosomes
def: "Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion." [MESH:D018404]
synonym: "Isochromosome" EXACT []
xref: MESH:D018404
xref: RDO:0007195
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9005863
name: Methylmalonic Aciduria and Homocystinuria, cblJ Type
synonym: "MAHCJ" EXACT []
xref: MIM:614857
xref: NCI:C183526
is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria

[Term]
id: DOID:9005864
name: Autosomal Dominant Intellectual Developmental Disorder 61
synonym: "autosomal dominant mental retardation 61" EXACT []
synonym: "intellectual developmental disorder 61" EXACT []
synonym: "MRD61" EXACT []
xref: MIM:618009
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2020-02-03T08:54:15Z

[Term]
id: DOID:9005865
name: Intervertebral Disc Disease, Type I
synonym: "type I IVDD" EXACT []
xref: OMIA:000157
is_a: DOID:9000585 ! Intervertebral Disc Disease
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:9005866
name: Spinal Subdural Hematoma
def: "Subdural hematoma of the SPINAL CANAL." [MESH:D046649]
synonym: "spinal subdural hematomas" EXACT []
synonym: "traumatic spinal subdural hematoma" EXACT []
xref: EFO:1001847
xref: MESH:D046649
is_a: DOID:9001521 ! Subdural Hematoma

[Term]
id: DOID:9005867
name: X-Linked Intellectual Developmental Disorders
def: "A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS)." [MESH:D038901]
synonym: "X-Linked Intellectual Developmental Disorder" EXACT []
synonym: "X-Linked Mental Retardation" EXACT []
synonym: "X-Linked Mental Retardation Disorders" EXACT []
synonym: "X Linked Mental Retardation Syndromes" EXACT []
xref: MESH:D038901
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:9005868
name: Duplication 4p Syndrome
synonym: "Chromosome 4, Partial Trisomy 4p" EXACT []
synonym: "Chromosome 4, Trisomy 4p" EXACT []
synonym: "Duplication 4p" EXACT []
xref: MESH:C537643
xref: RDO:0003519
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9005870
name: Nephrotic Syndrome Type 26
def: "An autosomal recessive renal disorder characterized by onset of proteinuria in the first months or years of life. Caused by homozygous or compound heterozygous mutation in the LAMA5 gene on chromosome 20q13." [MIM:620049]
synonym: "LAMA5-RELATED CONDITION" BROAD []
synonym: "NPHS26" EXACT []
xref: MIM:620049
is_a: DOID:2590 ! familial nephrotic syndrome
created_by: mtutaj
creation_date: 2022-09-27T09:43:06Z

[Term]
id: DOID:9005871
name: Thrombocytopenia, Cyclic
alt_id: MIM:188020
xref: MESH:C536899
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:9005872
name: Dystelephalangy
alt_id: MIM:128000
synonym: "Kirner deformity" EXACT []
xref: MESH:C538000
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9005873
name: Tongue Neoplasms
alt_id: DOID:8649
def: "Tumors or cancer of the TONGUE." []
synonym: "tongue neoplasm" EXACT []
synonym: "tongue neoplasms" EXACT []
xref: EFO:0003871
xref: MESH:D014062
is_a: DOID:10944 ! tongue disease
is_a: DOID:9007364 ! Mouth Neoplasms

[Term]
id: DOID:9005874
name: Coloboma of Macula and Skeletal Anomalies
alt_id: MIM:216800
xref: MESH:C565686
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:12270 ! coloboma
is_a: DOID:674 ! cleft palate

[Term]
id: DOID:9005875
name: Giant Platelet Syndrome with Thrombocytopenia
xref: MESH:C564237
xref: RDO:0013265
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:9005876
name: Thrombocytopenic Purpura
def: "Any form of purpura in which the PLATELET COUNT is decreased. Many forms are thought to be caused by immunological mechanisms." [MESH:D011696]
synonym: "Thrombocytopenic Purpuras" EXACT []
synonym: "Thrombopenic Purpura" EXACT []
synonym: "Thrombopenic Purpuras" EXACT []
xref: MESH:D011696
is_a: DOID:2914 ! immune system disease
is_a: DOID:3326 ! purpura
is_a: DOID:9000326 ! Thrombotic Microangiopathies

[Term]
id: DOID:9005877
name: Corneal Dystrophy, Fuchs' Endothelial, 2
alt_id: MIM:610158
synonym: "FCD1 LOCUS" EXACT []
synonym: "FECD2" EXACT []
synonym: "Late-onset Fuchs' endothelial corneal dystrophy" EXACT []
xref: MESH:C535479
is_a: DOID:11555 ! Fuchs' endothelial dystrophy

[Term]
id: DOID:9005878
name: Tertiary Lymphoid Structures
def: "Aggregates of immune cells formed near the sites of chronically inflamed, infected, or tumorous tissues." [MESH:D000072717]
synonym: "Ectopic Lymph Node" EXACT []
synonym: "Ectopic Lymph Nodes" EXACT []
synonym: "Ectopic Lymphoid Follicle" EXACT []
synonym: "Ectopic Lymphoid Follicles" EXACT []
synonym: "Ectopic Lymphoid Formation" EXACT []
synonym: "Ectopic Lymphoid Formations" EXACT []
synonym: "Ectopic Lymphoid-Like Structure" EXACT []
synonym: "Ectopic Lymphoid Like Structures" EXACT []
synonym: "Ectopic Lymphoid Organ" EXACT []
synonym: "Ectopic Lymphoid Organs" EXACT []
synonym: "Ectopic Lymphoid Tissue" EXACT []
synonym: "Ectopic Lymphoid Tissues" EXACT []
synonym: "Tertiary Lymphoid Structure" EXACT []
xref: MESH:D000072717
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9005879
name: Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant
xref: MESH:C567121
is_a: DOID:4959 ! epidermolysis bullosa dystrophica

[Term]
id: DOID:9005880
name: Biologically Inactive Thyrotropin
alt_id: RDO:0013617
xref: MESH:C564765
is_a: DOID:0050328 ! congenital hypothyroidism

[Term]
id: DOID:9005881
name: Chilblain Lupus 1
alt_id: MIM:610448
synonym: "CHBL1" EXACT []
synonym: "chilbain lupus 1" RELATED []
synonym: "Chilblain lupus" EXACT []
xref: MESH:C535924
is_a: DOID:0060386 ! Chilblain lupus
is_a: DOID:9004248 ! Chilblains

[Term]
id: DOID:9005882
name: Spine Osteoarthritis
def: "A degenerative joint disease involving the SPINE. It is characterized by progressive deterioration of the spinal articular cartilage (CARTILAGE, ARTICULAR), usually with hardening of the subchondral bone and outgrowth of bone spurs (OSTEOPHYTE)." [MESH:D055013]
synonym: "Lumbar Osteoarthritis" EXACT []
synonym: "Spinal Osteoarthritis" EXACT []
xref: EFO:1000787
xref: MESH:D055013
is_a: DOID:8398 ! osteoarthritis
is_a: DOID:9000380 ! Spondylarthritis

[Term]
id: DOID:9005883
name: Pleural Effusion
def: "Presence of fluid in the pleural cavity resulting from excessive transudation or exudation from the pleural surfaces. It is a sign of disease and not a diagnosis in itself." [MESH:D010996]
synonym: "Pleural Effusions" EXACT []
xref: EFO:0009637
xref: MESH:D010996
xref: RDO:0006358
is_a: DOID:1532 ! pleural disease

[Term]
id: DOID:9005884
name: Potassium Aggravated Myotonia
alt_id: MIM:608390
synonym: "Myotonia congenita, acetazolamide-responsive" EXACT []
synonym: "Myotonia congenita, atypical" EXACT []
synonym: "MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE" EXACT []
synonym: "MYOTONIA CONGENITA, ATYPICAL LARYNGOSPASM, SEVERE NEONATAL EPISODIC" NARROW []
synonym: "myotonia fluctuans" EXACT []
synonym: "myotonia permanens" EXACT []
synonym: "SNEL" NARROW []
synonym: "SODIUM CHANNEL MUSCLE DISEASE" EXACT []
synonym: "Sodium Channel Myotonia" EXACT []
xref: MESH:C538353
is_a: DOID:2106 ! myotonia congenita

[Term]
id: DOID:9005885
name: Ataxia with Myoclonic Epilepsy and Presenile Dementia
alt_id: MIM:208700
xref: MESH:C565933
is_a: DOID:1307 ! dementia
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9005154 ! Myoclonic Epilepsies

[Term]
id: DOID:9005886
name: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
def: "This disease is a severe progressive skeletal dysplasia with features of a metabolic disorder. Patients exhibit marked short stature, coarse facies with broad nose and prominent lips, and a distended abdomen, and experience severe physical disability." [MIM:619345]
synonym: "Ain-Naz type of dysostosis multiplex" EXACT []
synonym: "DMAN" EXACT []
xref: MIM:619345
is_a: DOID:1934 ! dysostosis
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9001487 ! Facies
created_by: slaulede
creation_date: 2021-08-12T15:49:29Z

[Term]
id: DOID:9005887
name: Hunter-McAlpine Syndrome
alt_id: MIM:601379
synonym: "Hunter-McAlpine craniosynostosis" EXACT []
synonym: "Hunter-McAlpine craniosynostosis syndrome" EXACT []
xref: MESH:C536072
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9005888
name: Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia
alt_id: MIM:266255
xref: MESH:C564856
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9827 ! radioulnar synostosis

[Term]
id: DOID:9005889
name: Suppuration
def: "A pathologic process consisting in the formation of pus." [MESH:D013492]
synonym: "Pus" EXACT []
xref: MESH:D013492
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:9005890
name: Disproportionate Tall Stature
def: "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [HP:0001519]
xref: HP:0001519
is_a: DOID:0080006 ! bone development disease
created_by: slaulede
creation_date: 2020-03-13T11:28:26Z

[Term]
id: DOID:9005891
name: Combined Pituitary Hormone Deficiency 6
synonym: "COMBINED PITUITARY HORMONE DEFICIENCY, DOMINANT" EXACT []
synonym: "CPHD6" EXACT []
xref: MIM:613986
xref: MONDO:0013518
is_a: DOID:9410 ! panhypopituitarism

[Term]
id: DOID:9005892
name: Gaucher-like Disease
synonym: "Pseudo Gaucher disease" EXACT []
xref: MESH:C537675
xref: RDO:0003555
is_a: DOID:1926 ! Gaucher's disease

[Term]
id: DOID:9005893
name: chemotherapy-induced oral mucositis
def: "This disease involves inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment." [EFO:0006313]
synonym: "Drug-induced mucositis" BROAD []
xref: EFO:0006313
is_a: DOID:0080178 ! mucositis
created_by: slaulede
creation_date: 2023-02-02T14:11:06Z

[Term]
id: DOID:9005894
name: Childhood-Onset Remitting Leukodystrophy
def: "A very rare autosomal dominant disorder characterized in some patients by onset of a metabolic crisis at the end of the first year of life that leads to widespread demyelination and leukodystrophy on brain imaging and a dramatic loss of developmental abilities. Caused by heterozygous mutation in the FBP2 gene on chromosome 9q22." [MIM:619864]
synonym: "CORLK" EXACT []
xref: MIM:619864
is_a: DOID:10579 ! leukodystrophy
created_by: mtutaj
creation_date: 2022-05-11T16:32:54Z

[Term]
id: DOID:9005895
name: Congenital Cataracts, Hearing Loss, and Neurodegeneration
synonym: "ACETYL-CoA TRANSPORTER DEFICIENCY" EXACT []
synonym: "CCHLND" EXACT []
synonym: "HPBDS" EXACT []
synonym: "Huppke-Brendel syndrome" EXACT []
xref: MIM:614482
is_a: DOID:83 ! cataract
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9005896
name: Tollner Horst Manzke Syndrome
synonym: "Heptacarpo-octatarso-dactyly combined with multiple malformation" EXACT []
xref: MESH:C536964
xref: RDO:0002700
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005897
name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES
def: "A disease characterized by global developmental delay apparent from infancy or early childhood, resulting in mildly delayed walking, variably impaired intellectual development, and poor or absent speech." [MIM:618443]
synonym: "MAPK8IP3-RELATED DISORDER" EXACT []
synonym: "NEDBA" EXACT []
xref: MIM:618443
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2019-09-13T13:50:23Z

[Term]
id: DOID:9005898
name: Chromosome 2, Trisomy 2pter p24
synonym: "Duplication 2pter p24" EXACT []
synonym: "Trisomy 2pter p24" EXACT []
xref: MESH:C535366
xref: RDO:0000448
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9005900
name: Seckel syndrome 11
def: "A disease characterized by severe primary microcephaly, short stature, developmental delay, impaired intellectual development, facial dysmorphisms, and digital abnormalities. Caused by homozygous or compound heterozygous mutation in the CEP295 gene on chromosome 11q21." [MIM:620767]
synonym: "SCKL11" EXACT []
xref: MIM:620767
is_a: DOID:0050569 ! Seckel syndrome
created_by: tutajm
creation_date: 2024-04-22T17:10:40Z

[Term]
id: DOID:9005901
name: Nystagmus 5, Infantile Periodic Alternating
synonym: "Nystagmus, Infantile Periodic Alternating, X-Linked" EXACT []
xref: MESH:C564478
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:9005902
name: Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
alt_id: MIM:202900
synonym: "Stimmler Syndrome" EXACT []
xref: MESH:C565968
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:693 ! dental enamel hypoplasia
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9252 ! amino acid metabolic disorder
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9005903
name: Missed Abortions
alt_id: RDO:0004692
def: "The retention in the UTERUS of a dead FETUS two months or more after its DEATH." [MESH:D000030]
synonym: "missed abortion" EXACT []
xref: MESH:D000030
is_a: DOID:9003281 ! Spontaneous Abortions

[Term]
id: DOID:9005904
name: Glucocorticoid Deficiency 4
synonym: "GCCD4" EXACT []
synonym: "glucocorticoid deficiency 4 with mineralocorticoid deficiency" NARROW []
synonym: "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" EXACT []
synonym: "NNT-related condition" BROAD []
xref: MIM:614736
xref: MONDO:0013874
is_a: DOID:0080620 ! familial glucocorticoid deficiency
is_a: DOID:9008622 ! Adrenal Insufficiency

[Term]
id: DOID:9005905
name: Type 2 Diabetes Mellitus 5
synonym: "NIDDM5" EXACT []
synonym: "noninsulin-dependent diabetes mellitus 5" EXACT []
synonym: "T2D5" EXACT []
synonym: "type 2 diabetes 5" EXACT []
xref: MIM:616087
is_a: DOID:9352 ! type 2 diabetes mellitus

[Term]
id: DOID:9005906
name: Carcinoid Heart Disease
def: "Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." [MESH:D002275]
synonym: "Carcinoid Heart Diseases" EXACT []
xref: EFO:1001769
xref: MESH:D002275
xref: RDO:0005111
is_a: DOID:114 ! heart disease
is_a: DOID:9005598 ! Malignant Carcinoid Syndrome

[Term]
id: DOID:9005908
name: Retrograde Degeneration
def: "Pathologic changes that occur in the axon and cell body of a neuron proximal to an axonal lesion. The process is characterized by central chromatolysis which features flattening and displacement of the nucleus, loss of Nissl bodies, and cellular edema. Central chromatolysis primarily occurs in lower motor neurons." [MESH:D012183]
synonym: "Axonal Reaction" EXACT []
synonym: "Axonal Reactions" EXACT []
synonym: "Axon Reaction" EXACT []
synonym: "Axon Reactions" EXACT []
synonym: "Nissl Degeneration" EXACT []
synonym: "Retrograde Degenerations" EXACT []
synonym: "Transneuronal Retrograde Degeneration" EXACT []
synonym: "Transneuronal Retrograde Degenerations" EXACT []
synonym: "Trans Synaptic Degeneration" EXACT []
synonym: "Trans-Synaptic Degenerations" EXACT []
xref: MESH:D012183
xref: RDO:0006484
is_a: DOID:9002955 ! Nerve Degeneration

[Term]
id: DOID:9005909
name: Keratoconus 2
alt_id: MIM:608932
synonym: "KTCN2" EXACT []
xref: MESH:C563827
is_a: DOID:10126 ! keratoconus

[Term]
id: DOID:9005911
name: Hyperapobetalipoproteinemia
synonym: "Hyperapobetalipoproteinemia, susceptibility to" RELATED []
xref: MIM:170998
xref: RDO:9000794
is_a: DOID:9005519 ! Hyperlipoproteinemia Type II
created_by: rgd
creation_date: 2015-07-16T00:00:00Z

[Term]
id: DOID:9005912
name: Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency
synonym: "DISORDER OF GLYCOLYSIS" EXACT []
synonym: "GPI-RELATED CONDITION" EXACT []
synonym: "HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY" NARROW []
xref: MIM:613470
is_a: DOID:589 ! congenital hemolytic anemia
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9005913
name: Keratoconus and Congenital Hip Dysplasia
alt_id: MIM:244510
xref: MESH:C565456
is_a: DOID:10126 ! keratoconus
is_a: DOID:9005560 ! Congenital Hip Dislocation

[Term]
id: DOID:9005914
name: Cubitus Valgus with Impaired Intellectual Development and Unusual Facies
alt_id: MIM:300471
synonym: "cubitus valgus with mental retardation and unusual facies" EXACT []
xref: MESH:C564510
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9004402 ! Congenital Upper Extremity Deformities

[Term]
id: DOID:9005916
name: Radial Drusen, Autosomal Dominant
xref: MESH:C565088
is_a: DOID:2569 ! retinal drusen
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9005917
name: Neuhauser Eichner Opitz Syndrome
alt_id: MIM:130950
synonym: "Encephalopathy, recurrent, of childhood" EXACT []
xref: MESH:C536407
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:225 ! syndrome
is_a: DOID:679 ! basal ganglia disease

[Term]
id: DOID:9005918
name: Fountain Syndrome
alt_id: MIM:229120
synonym: "Mental retardation-deafnes, skeletal abnormalities, coarse face with full lips" EXACT []
synonym: "Mental Retardation, Sensorineural Deafness, Skeletal Abnormalities, And Coarse Face With Full Lips" EXACT []
xref: MESH:C537270
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008681 ! Deafness
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005919
name: African Swine Fever
def: "A sometimes fatal ASFIVIRUS infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros)." [MESH:D000357]
synonym: "Wart Hog Disease" EXACT []
synonym: "Wart-Hog Diseases" EXACT []
xref: MESH:D000357
xref: RDO:0004773
is_a: DOID:9000251 ! DNA Virus Infections
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9008435 ! Swine Diseases

[Term]
id: DOID:9005920
name: Glycine Encephalopathy 1
def: "A glycine encephalopathy caused by homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24." [MIM:605899]
synonym: "GCE1" EXACT []
xref: MIM:605899
is_a: DOID:9268 ! glycine encephalopathy
created_by: mtutaj
creation_date: 2023-06-14T14:33:12Z

[Term]
id: DOID:9005921
name: Charcot-Marie-Tooth Disease, Dominant Intermediate 2
xref: MESH:C535400
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type

[Term]
id: DOID:9005922
name: Myopathy with Storage of Glycoproteins and Glycosaminoglycans
alt_id: MIM:160570
xref: MESH:C563542
is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:9005923
name: CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED
xref: MIM:300864
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:12270 ! coloboma
created_by: slaulede
creation_date: 2018-10-10T15:52:34Z

[Term]
id: DOID:9005924
name: Cat Diseases
def: "Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as CHEETAHS; LIONS; tigers, cougars, panthers, leopards, and other Felidae for which the heading CARNIVORA is used." [MESH:D002371]
synonym: "Cat Disease" EXACT []
synonym: "Feline Disease" EXACT []
synonym: "Feline Diseases" EXACT []
xref: MESH:D002371
xref: RDO:0005143
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9005925
name: Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency
alt_id: MIM:202010
synonym: "11-Beta-hydroxylase deficiency" EXACT []
synonym: "11B Hydroxylase Deficiency" EXACT []
synonym: "Adrenal hyperplasia 4" EXACT []
synonym: "Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency" EXACT []
synonym: "Adrenal Hyperplasia, Hypertensive Form" EXACT []
synonym: "Adrenal Hyperplasia IV" EXACT []
synonym: "Congenital adrenal hyperplasia type 4" EXACT []
synonym: "Hypertensive form of adrenal hyperplasia" EXACT []
synonym: "P450C11B1 deficiency" EXACT []
synonym: "Steroid 11 Beta Hydroxylase Deficiency" EXACT []
xref: MESH:C535978
xref: RDO:0001372
is_a: DOID:0050811 ! congenital adrenal hyperplasia

[Term]
id: DOID:9005926
name: Leigh Syndrome, X-Linked
xref: MESH:C564114
xref: RDO:0013183
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:3652 ! Leigh disease

[Term]
id: DOID:9005927
name: Chromosome 3, Trisomy 3p25
synonym: "Duplication 3p25" EXACT []
synonym: "Trisomy 3p25" EXACT []
xref: MESH:C536812
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9005928
name: Speech Disturbance - Use of Faulty Phrasing and Unrelated Words
xref: MESH:C538446
xref: RDO:0004414
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:9005929
name: De Hauwere Leroy Adriaenssens syndrome
synonym: "Iris dysplasia, orbital hypertelorism, and psychomotor retardation" EXACT []
xref: MESH:C535991
is_a: DOID:225 ! syndrome
is_a: DOID:240 ! iris disease
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9005930
name: Endotoxemia
def: "A condition characterized by the presence of ENDOTOXINS in the blood. On lysis, the outer cell wall of gram-negative bacteria enters the systemic circulation and initiates a pathophysiologic cascade of pro-inflammatory mediators." [MESH:D019446]
synonym: "Endotoxemias" EXACT []
xref: MESH:D019446
is_a: DOID:9008067 ! Toxemia
relationship: part_of DOID:9005036 ! Bacteremia

[Term]
id: DOID:9005931
name: Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells
xref: MESH:C565731
is_a: DOID:3642 ! empty sella syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9005932
name: Urinary Bladder Reperfusion Injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the urinary bladder, including swelling; hemorrhage; necrosis; and damage from free radicals." []
synonym: "bladder reperfusion injury" RELATED []
is_a: DOID:365 ! bladder disease
is_a: DOID:9004009 ! Reperfusion Injury
created_by: rgd
creation_date: 2016-01-19T00:00:00Z

[Term]
id: DOID:9005933
name: Lazy Leukocyte Syndrome
alt_id: MIM:150550
def: "An autosomal recessive immunologic disorder with variable manifestations. Common features include early-onset recurrent respiratory infections, stomatitis, and cutaneous infections." []
synonym: "periodic fever, immunodeficiency, and thrombocytopenia syndrome" EXACT []
synonym: "PFITS" EXACT []
synonym: "WDR1 DEFICIENCY" EXACT []
synonym: "WDR1-RELATED CONDITION" EXACT []
xref: MESH:C562721
is_a: DOID:1227 ! neutropenia
is_a: DOID:225 ! syndrome
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9005934
name: Trisomy 22 Mosaicism Syndrome
synonym: "Chromosome 22 trisomy mosaic" EXACT []
synonym: "Trisomy 22 mosaic" EXACT []
synonym: "Uniparental disomy of 22" EXACT []
xref: MESH:C536796
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:9005936
name: Gastro-Enteropancreatic Neuroendocrine Tumor
synonym: "Gastroenteropancreatic neuroendocrine tumor" EXACT []
xref: MESH:C535650
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:1793 ! pancreatic cancer
is_a: DOID:9000217 ! Stomach Neoplasms
is_a: DOID:9002245 ! Intestinal Neoplasms

[Term]
id: DOID:9005937
name: Deafness-Hypogonadism Syndrome
alt_id: MIM:304350
xref: MESH:C564435
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:9003113 ! Hearing Loss, Mixed Conductive-Sensorineural

[Term]
id: DOID:9005938
name: Mesoaxial Synostotic Syndactyly with Phalangeal Reduction
alt_id: MIM:609432
synonym: "MSSD" EXACT []
synonym: "Syndactyly, Malik-Percin Type" EXACT []
synonym: "SYNDACTYLY TYPE 9" EXACT []
synonym: "syndactyly, type 9" EXACT []
synonym: "syndactyly, type IX" EXACT []
xref: MESH:C563721
is_a: DOID:11193 ! syndactyly

[Term]
id: DOID:9005939
name: Pinheiro Freire-Maia Miranda Syndrome
synonym: "Trichodermodysplasia with dental alterations" EXACT []
xref: MESH:C537402
is_a: DOID:13714 ! anodontia
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9005940
name: Autosomal Dominant Diffuse Lewy Body Disease
xref: MESH:C538637
xref: RDO:0004558
is_a: DOID:12217 ! Lewy body dementia

[Term]
id: DOID:9005941
name: Rhinosinusitis
def: "Inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES." []
is_a: DOID:0050127 ! sinusitis
is_a: DOID:4483 ! rhinitis

[Term]
id: DOID:9005942
name: Laurence Prosser Rocker Syndrome
xref: MESH:C537882
xref: RDO:0003793
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:1148 ! polydactyly
is_a: DOID:1657 ! ventricular septal defect
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9005943
name: Weinstein Kliman Scully Syndrome
synonym: "Cardiomyopathy, hypogonadism and metabolic anomalies" EXACT []
xref: MESH:C536688
xref: RDO:0002336
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9005165 ! Deaf-Blind Disorders

[Term]
id: DOID:9005944
name: Slit Ventricle Syndrome
def: "An intermittent and self-limiting headache disorder in individuals with CEREBROSPINAL FLUID SHUNTS emplaced for the treatment of HYDROCEPHALUS. The symptoms of headache, vomiting, and cranial neuropathies are associated with intermittent obstruction of the shunt." [MESH:D056124]
synonym: "Slit Ventricle Syndromes" EXACT []
xref: MESH:D056124
is_a: DOID:225 ! syndrome
is_a: DOID:9000053 ! Headache
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9005945
name: Dermoids of Cornea
alt_id: MIM:304730
synonym: "Bilateral corneal dermoids" EXACT []
synonym: "CND" EXACT []
synonym: "Corneal dermoids and short stature" EXACT []
synonym: "Guizar-Vazquez Luengas-Munoz syndrome" EXACT []
xref: MESH:C535376
is_a: DOID:10124 ! corneal disease
is_a: DOID:9000660 ! Choristoma
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9005946
name: Mononeuropathy of the Median Nerve, Mild
synonym: "CARPAL TUNNEL SYNDROME, SUSCEPTIBILITY TO" EXACT []
synonym: "MNMN" EXACT []
synonym: "SH3TC2-RELATED CONDITION" BROAD []
synonym: "SH3TC2-RELATED DISORDER" BROAD []
xref: MIM:613353
xref: RDO:0009823
is_a: DOID:1188 ! mononeuropathy

[Term]
id: DOID:9005948
name: 2,4-Dienoyl-CoA Reductase Deficiency
alt_id: MIM:616034
synonym: "DECRD" EXACT []
xref: MESH:C565624
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:9005949
name: Saal Bulas Syndrome
synonym: "Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum" EXACT []
xref: MESH:C537193
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:3827 ! congenital diaphragmatic hernia
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9005950
name: Orthostatic Hypotension
alt_id: RDO:0004625
def: "A significant drop in BLOOD PRESSURE after assuming a standing position. Orthostatic hypotension is a finding, and defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure 3 minutes after the person has risen from supine to standing. Symptoms generally include DIZZINESS, blurred vision, and SYNCOPE." [MESH:D007024]
synonym: "postural hypotension" EXACT []
xref: EFO:0005252
xref: MESH:D007024
xref: MIM:PS223360
is_a: DOID:9004453 ! Orthostatic Intolerance
is_a: DOID:9006024 ! Hypotension

[Term]
id: DOID:9005951
name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES
def: "This disease is an autosomal recessive disorder characterized by global developmental delay apparent in infancy, axial hypotonia, peripheral spasticity, and early-onset seizures of various types and severity. Affected individuals have delayed walking or are unable to walk and show impaired intellectual development with poor or absent speech." [MIM:620001]
synonym: "NEDSSBA" EXACT []
xref: MIM:620001
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007428 ! Muscle Spasticity
created_by: slaulederkind
creation_date: 2024-03-26T11:01:07Z

[Term]
id: DOID:9005953
name: Hypocapnia
def: "Clinical manifestation consisting of a deficiency of carbon dioxide in arterial blood." [MESH:D016857]
synonym: "Hypocapnias" EXACT []
xref: MESH:D016857
xref: RDO:0007000
is_a: DOID:9000575 ! Respiratory Signs and Symptoms

[Term]
id: DOID:9005954
name: Mondini Dysplasia
def: "A congenital inner ear malformation that features hearing loss and a cochlea that contains a normal basal turn and cystic apex, a minimally dilated vestibule, and an enlarged vestibular aqueduct.  This term has also been used to describe multiple variants of cochlear hypoplasia." []
synonym: "Mondini deformity" EXACT []
synonym: "Mondini malformation" EXACT []
xref: RDO:9000073
is_a: DOID:5463 ! cochlear disease
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9005955
name: Triploidy
def: "Polyploidy with three sets of chromosomes. Triploidy in humans are 69XXX, 69XXY, and 69XYY. It is associated with HOLOPROSENCEPHALY; ABNORMALITIES, MULTIPLE; PARTIAL HYDATIDIFORM MOLE; and MISCARRAGES." [MESH:D057885]
synonym: "Triploid" EXACT []
synonym: "Triploidies" EXACT []
synonym: "Triploids" EXACT []
xref: MESH:D057885
is_a: DOID:9005779 ! Polyploidy

[Term]
id: DOID:9005956
name: Pneumovirinae infections
def: "Infections with viruses of the subfamily Pneumovirinae. This includes two genera: PNEUMOVIRUS and METAPNEUMOVIRUS." [MESH:D018099]
xref: MESH:D018099
is_a: DOID:9007244 ! Paramyxoviridae Infections
created_by: slaulede
creation_date: 2020-12-21T15:41:58Z

[Term]
id: DOID:9005957
name: Pinealoma
def: "Neoplasms which originate from pineal parenchymal cells that tend to enlarge the gland and be locally invasive. The two major forms are pineocytoma and the more malignant pineoblastoma. Pineocytomas have moderate cellularity and tend to form rosette patterns. Pineoblastomas are highly cellular tumors containing small, poorly differentiated cells. These tumors occasionally seed the neuroaxis or cause obstructive HYDROCEPHALUS or Parinaud's syndrome. GERMINOMA; CARCINOMA, EMBRYONAL; GLIOMA; and other neoplasms may arise in the pineal region with germinoma being the most common pineal region tumor. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2064; Adams et al., Principles of Neurology, 6th ed, p670)" [MESH:D010871]
synonym: "Mixed Pineocytoma Pineoblastoma" EXACT []
synonym: "Mixed Pineocytoma-Pineoblastomas" EXACT []
synonym: "Pineal Gland Tumor" EXACT []
synonym: "Pineal Gland Tumors" EXACT []
synonym: "Pineal Neoplasm" EXACT []
synonym: "Pineal Neoplasms" EXACT []
synonym: "Pinealocytoma" EXACT []
synonym: "Pinealocytomas" EXACT []
synonym: "Pinealomas" EXACT []
synonym: "Pineal Parenchymal Tumor" EXACT []
synonym: "Pineal Parenchymal Tumors" EXACT []
synonym: "Pineal Tumor" EXACT []
synonym: "Pineal Tumors" EXACT []
synonym: "pineocytoma" EXACT []
synonym: "pineocytomas" EXACT []
synonym: "tumor of the pineal region" EXACT []
xref: EFO:1000476
is_a: DOID:1931 ! hypothalamic disease
is_a: DOID:9007502 ! Brain Neoplasms
is_a: DOID:9007803 ! Endocrine Gland Neoplasms

[Term]
id: DOID:9005958
name: Neurofibromatosis Type 3, Mixed Central and Peripheral
alt_id: MIM:162260
synonym: "Neurofibromas, Palmar Cutaneous" EXACT []
synonym: "Neurofibromatosis Type 3, Riccardi type" EXACT []
synonym: "Neurofibromatosis Type III, Mixed Central and Peripheral" EXACT []
synonym: "Neurofibromatosis Type III, of Riccardi" EXACT []
synonym: "Neurofibromatosis Type III, Riccardi Type" EXACT []
xref: MESH:C537389
is_a: DOID:8712 ! neurofibromatosis

[Term]
id: DOID:9005959
name: Gonadal Tissue Neoplasms
alt_id: DOID:9008100
def: "Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells." [MESH:D018309]
synonym: "germ cell tumor" NARROW []
synonym: "Gonadal Tissue Neoplasm" EXACT []
synonym: "Male Germ Cell Tumor" NARROW []
xref: EFO:0000514
xref: EFO:1000953
xref: MESH:C564777
xref: MESH:D018309
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:9005960
name: Primary Ciliary Dyskinesia 51
def: "A male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), resulting in severely reduced progressive motility. Caused by homozygous or compound heterozygous mutation in the BRWD1 gene on chromosome 21q22." [MIM:620438]
synonym: "CILD51" EXACT []
xref: MIM:620438
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: mtutaj
creation_date: 2023-07-07T12:40:16Z

[Term]
id: DOID:9005961
name: Familial Hypercholanemia 1
synonym: "FHCA1" EXACT []
synonym: "TJP2-RELATED CONDITION" BROAD []
xref: MIM:607748
is_a: DOID:9007118 ! Familial Hypercholanemia
created_by: mtutaj
creation_date: 2021-04-13T11:51:41Z

[Term]
id: DOID:9005962
name: Multiple Pterygium Syndrome, Lethal Type
alt_id: RDO:0008388
synonym: "CHRNG-RELATED DISORDER" BROAD []
synonym: "lethal multiple pterygium syndrome" EXACT []
synonym: "LMPS" EXACT []
xref: MIM:253290
is_a: DOID:0080110 ! contractures, pterygia, and spondylocarpotarsal fusion syndrome
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:9001984 ! Fetal Diseases

[Term]
id: DOID:9005963
name: Distal Arthrogryposis, with Impaired Proprioception and Touch
def: "An autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, and progressive skeletal contractures. (OMIM)" []
synonym: "DAIPT" EXACT []
xref: MIM:617146
is_a: DOID:0050646 ! distal arthrogryposis
is_a: DOID:9008625 ! Somatosensory Disorders

[Term]
id: DOID:9005964
name: Pigmentary Dilution
alt_id: MIM:126070
synonym: "oculocutaneous albinoidism, autosomal dominant" EXACT []
xref: MESH:C566872
is_a: DOID:0050632 ! oculocutaneous albinism

[Term]
id: DOID:9005965
name: Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus
alt_id: MIM:158500
xref: MESH:C562774
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:767 ! muscular atrophy
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9005966
name: Staphylococcal Skin Infections
def: "Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS." [MESH:D013207]
synonym: "Skin Staphylococcal Disease" EXACT []
synonym: "Skin Staphylococcal Diseases" EXACT []
synonym: "Skin Staphylococcal Infection" EXACT []
xref: EFO:1001849
xref: MESH:D013207
xref: RDO:0005639
is_a: DOID:9003209 ! Bacterial Skin Diseases
is_a: DOID:9008885 ! Staphylococcal Infections

[Term]
id: DOID:9005968
name: Neuralgia
def: "Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve." [MESH:D009437]
synonym: "Atypical Neuralgia" EXACT []
synonym: "Atypical Neuralgias" EXACT []
synonym: "Iliohypogastric Nerve Neuralgia" EXACT []
synonym: "Iliohypogastric Nerve Neuralgias" EXACT []
synonym: "Ilioinguinal Neuralgia" EXACT []
synonym: "Ilioinguinal Neuralgias" EXACT []
synonym: "Nerve Pain" EXACT []
synonym: "Nerve Pains" EXACT []
synonym: "Neuralgias" EXACT []
synonym: "Neurodynia" EXACT []
synonym: "Neurodynias" EXACT []
synonym: "Neuropathic Pain" EXACT []
synonym: "Neuropathic Pains" EXACT []
synonym: "Paroxysmal Nerve Pain" EXACT []
synonym: "Paroxysmal Nerve Pains" EXACT []
synonym: "Perineal Neuralgia" EXACT []
synonym: "Perineal Neuralgias" EXACT []
synonym: "Stump Neuralgia" EXACT []
synonym: "Stump Neuralgias" EXACT []
synonym: "Supraorbital Neuralgia" EXACT []
synonym: "Supraorbital Neuralgias" EXACT []
synonym: "Vidian Neuralgia" EXACT []
synonym: "Vidian Neuralgias" EXACT []
xref: EFO:0005762
xref: EFO:0009430
xref: MESH:D009437
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9005969
name: Refractory Anemia with Excess of Blasts
def: "Chronic refractory anemia with granulocytopenia, and/or thrombocytopenia. Myeloblasts and progranulocytes constitute 5 to 40 percent of the nucleated marrow cells." [MESH:D000754]
synonym: "RAEB" EXACT []
synonym: "RAEM" EXACT []
synonym: "Smoldering Leukemia" EXACT []
synonym: "Smoldering Leukemias" EXACT []
synonym: "Smouldering Leukemia" EXACT []
xref: EFO:0003811
xref: MESH:D000754
is_a: DOID:9000300 ! Refractory Anemia

[Term]
id: DOID:9005970
name: Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis
alt_id: MIM:609069
synonym: "PACA" EXACT []
synonym: "pancreatic and cerebellar agenesis" EXACT []
xref: MESH:C563796
is_a: DOID:0060639 ! permanent neonatal diabetes mellitus
is_a: DOID:9001487 ! Facies
is_a: DOID:9002231 ! Fetal Growth Retardation

[Term]
id: DOID:9005973
name: Lelis Syndrome
alt_id: MIM:608290
synonym: "hypohidrotic ectodermal dysplasia with acanthosis nigricans" EXACT []
xref: MESH:C564261
is_a: DOID:11155 ! hypohidrosis
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:3138 ! acanthosis nigricans

[Term]
id: DOID:9005975
name: Acromelic Frontonasal Dysplasia
xref: MESH:C535657
is_a: DOID:2449 ! acromegaly

[Term]
id: DOID:9005976
name: Pulmonary Surfactant Metabolism Dysfunction 2
alt_id: MIM:610913
synonym: "congenital pulmonary alveolar proteinosis 2" EXACT []
synonym: "Desquamative Interstitial Pneumonitis Due To Surfactant Protein C Deficiency" EXACT []
synonym: "Interstitial Lung Disease Due To Surfactant Protein C Deficiency" EXACT []
synonym: "SMDP2" EXACT []
xref: MESH:C567048
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:9006807 ! Congenital Pulmonary Alveolar Proteinosis

[Term]
id: DOID:9005977
name: eosinophilic leukemia
def: "A leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in increased numbers of eosinophils in the blood, marrow and peripheral tissues. (DO)" []
is_a: DOID:1240 ! leukemia
created_by: slaulede
creation_date: 2020-01-20T15:43:14Z

[Term]
id: DOID:9005978
name: Cerebellar Ataxia and Ectodermal Dysplasia
alt_id: MIM:212835
synonym: "cerebellar ataxia, ectodermal dysplasia" EXACT []
xref: MESH:C535350
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:9005979
name: Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine
def: "Patients with global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) present in early childhood with delay of both gross and fine motor skills and delayed speech. Ataxia develops by mid- to late childhood, necessitating use of a walker or wheelchair. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. Residual glutaminase (GLS) activity can be detected in fibroblasts and lymphocytes. One or both alleles of the GLS gene carry an expanded GCA trinucleotide repeat in the 5-prime untranslated region (UTR); the repeat expansion may be found in compound heterozygosity with another GLS mutation. (OMIM)" []
synonym: "GLUTAMINASE DEFICIENCY WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND PROGRESSIVE ATAXIA" EXACT []
xref: EFO:0010257
xref: MIM:618412
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: gthayman
creation_date: 2019-05-24T16:39:26Z

[Term]
id: DOID:9005980
name: Ramon Syndrome
alt_id: MIM:266270
synonym: "cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth" EXACT []
synonym: "gingival fibromatosis combined with cherubism" EXACT []
xref: MESH:C535285
is_a: DOID:0060466 ! gingival fibromatosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:1856 ! cherubism
is_a: DOID:225 ! syndrome
is_a: DOID:420 ! hypertrichosis
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9005981
name: Midline Defects, X-Linked
xref: MESH:C564054
xref: RDO:0013147
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0080074 ! neural tube defect

[Term]
id: DOID:9005982
name: Pseudoainhum
xref: MESH:C535821
xref: RDO:0001139
is_a: DOID:11329 ! ainhum
is_a: DOID:9001627 ! Pathologic Constriction

[Term]
id: DOID:9005983
name: Cerebroretinal Microangiopathy with Calcifications and Cysts 2
def: "An autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. (OMIM)" []
synonym: "CRMCC2" EXACT []
xref: MIM:617341
is_a: DOID:9003025 ! Cerebroretinal Microangiopathy with Calcifications and Cysts
created_by: rgd
creation_date: 2017-06-13T00:00:00Z

[Term]
id: DOID:9005984
name: Multisystem Autoimmune Disease, Infantile-Onset, 2
synonym: "ADMIO2" EXACT []
xref: MIM:617006
is_a: DOID:9002419 ! Multisystem Autoimmune Disease, Infantile-Onset

[Term]
id: DOID:9005985
name: Rubinstein Taybi like Syndrome
xref: MESH:C535877
xref: RDO:0001230
is_a: DOID:0002116 ! pterygium
is_a: DOID:1933 ! Rubinstein-Taybi syndrome
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9005986
name: Familial Behcet-Like Autoinflammatory Syndrome
xref: MIM:PS616744
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9005372 ! Inflammation
created_by: mtutaj
creation_date: 2023-07-07T12:50:56Z

[Term]
id: DOID:9005988
name: Multicystic Dysplastic Kidney
def: "A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY." [MESH:D021782]
synonym: "Bilateral Multicystic Dysplastic Kidneys" EXACT []
synonym: "Multicystic Dysplastic Kidneys" EXACT []
synonym: "Multicystic Kidney" EXACT []
synonym: "Multicystic Kidney Dysplasia" EXACT []
synonym: "Multicystic Kidney Dysplasias" EXACT []
synonym: "Multicystic Kidneys" EXACT []
synonym: "Multicystic Renal Dysplasia" EXACT []
synonym: "Multicystic Renal Dysplasias" EXACT []
synonym: "Unilateral Multicystic Dysplastic Kidney" EXACT []
xref: MESH:D021782
xref: MONDO:0015988
is_a: DOID:2975 ! cystic kidney disease
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:9005989
name: False Aneurysm
def: "Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue." [MESH:D017541]
synonym: "Aneurysm, False" EXACT []
synonym: "False Aneurysms" EXACT []
synonym: "Pseudoaneurysm" EXACT []
synonym: "Pseudoaneurysms" EXACT []
xref: EFO:1001265
xref: MESH:D017541
is_a: DOID:9001665 ! Aneurysm

[Term]
id: DOID:9005990
name: Peroxisome Biogenesis Disorder, Complementation Group 1
xref: MESH:C566568
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9005991
name: Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
alt_id: MIM:601794
xref: MESH:C566623
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12270 ! coloboma
is_a: DOID:225 ! syndrome
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9005992
name: Rothmund-Thomson Syndrome Type 2
synonym: "Rothmund-Thomson syndrome 2" EXACT []
synonym: "RTS2" EXACT []
xref: MIM:268400
is_a: DOID:2732 ! Rothmund-Thomson syndrome
created_by: mtutaj
creation_date: 2019-10-18T10:48:41Z

[Term]
id: DOID:9005993
name: Tonoki Syndrome
alt_id: MIM:603396
synonym: "Short stature, brachydactyly, nail dysplasia, and mental retardation" EXACT []
xref: MESH:C536967
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9005994
name: Immotile Cilia Syndrome, due to Excessively Long Cilia
alt_id: MIM:242680
synonym: "Ciliary Dyskinesia With Excessively Long Cilia" EXACT []
xref: MESH:C536287
is_a: DOID:0050127 ! sinusitis
is_a: DOID:4483 ! rhinitis
is_a: DOID:6132 ! bronchitis
is_a: DOID:9001591 ! Ciliary Motility Disorders

[Term]
id: DOID:9005995
name: Developmental and Epileptic Encephalopathy 115
def: "This disease is an autosomal recessive disorder characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypoplasia/aplasia of the corpus callosum, neurodevelopmental arrest, and early death." [MIM:620783]
synonym: "DEE115" EXACT []
synonym: "SNF8-ASSOCIATED DISEASE" BROAD []
xref: MIM:620783
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: slaulederkind
creation_date: 2024-05-10T17:51:53Z

[Term]
id: DOID:9005996
name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5
synonym: "FTDALS5" EXACT []
xref: MIM:619141
is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis
created_by: mtutaj
creation_date: 2021-01-07T09:49:10Z

[Term]
id: DOID:9005997
name: Uncombable Hair Syndrome
synonym: "Cheveux incoiffables" EXACT []
synonym: "Pili trianguli et Canaliculi" EXACT []
synonym: "UHS" EXACT []
synonym: "Unmanageable hair syndrome" EXACT []
xref: MESH:C536939
is_a: DOID:225 ! syndrome
is_a: DOID:421 ! hair disease

[Term]
id: DOID:9005999
name: Hyperostosis Frontalis Interna
alt_id: DOID:9001859
alt_id: MESH:C538586
alt_id: MIM:144800
def: "Thickening of the inner table of the frontal bone, which may be associated with hypertrichosis and obesity. It most commonly affects women near menopause." [MESH:D006957]
synonym: "Hyperostosis Frontalis Interna, Obesity, Shortness and Cognitive Impairment" EXACT []
synonym: "Leontiasis Ossium" EXACT []
synonym: "Morgagni Stewart Morel Syndrome" EXACT []
xref: GARD:8593
xref: MESH:D006957
xref: MONDO:0007766
xref: ORDO:77296
is_a: DOID:205 ! hyperostosis
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9006001
name: Mental Retardation and Distinctive Facial Features with or without Cardiac Defects
def: "This disease is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia." [MIM:616789]
synonym: "Asadollahi-Rauch syndrome" EXACT []
synonym: "CARDIAC ANOMALIES - DEVELOPMENTAL DELAY - FACIAL DYSMORPHISM SYNDROME" EXACT []
synonym: "IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH CARDIAC DEFECTS" NARROW []
synonym: "impaired intellectual development and distinctive facial features with or without cardiac defects" EXACT []
synonym: "MED13L-RELATED CONDITION" BROAD []
synonym: "MED13L-related disorder" BROAD []
synonym: "MRFACD" EXACT []
xref: MIM:616789
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9006002
name: Stewart Treves Syndrome
synonym: "Angiosarcoma associated with chronic lymphedema" EXACT []
synonym: "lymphangiosarcoma following mastectomy" EXACT []
synonym: "lymphangiosarcoma of Stewart and Treves" EXACT []
synonym: "postmastectomy extremity angiosarcoma" EXACT []
xref: MESH:C537491
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:225 ! syndrome
is_a: DOID:2689 ! lymphangiosarcoma

[Term]
id: DOID:9006005
name: Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB
synonym: "DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME" EXACT []
xref: MIM:613729
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:8927 ! learning disability
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9006006
name: Spondylocostal Dysostosis, Autosomal Recessive
alt_id: OMIA:001944
synonym: "COSTOVERTEBRAL DYSPLASIA" EXACT []
synonym: "VERTEBRAL ANOMALIES" EXACT []
xref: MESH:C535781
is_a: DOID:0050568 ! spondylocostal dysostosis
is_a: DOID:0050737 ! autosomal recessive disease

[Term]
id: DOID:9006008
name: Closed Head Injuries
def: "Traumatic injuries to the cranium where the integrity of the skull is not compromised and no bone fragments or other objects penetrate the skull and DURA MATER. This frequently results in mechanical injury being transmitted to intracranial structures which may produce TRAUMATIC BRAIN INJURIES, hemorrhage, or CRANIAL NERVE INJURIES. (From Rowland, Merritt's Textbook of Neurology, 9th ed, p417)" [MESH:D016489]
synonym: "Blunt Head Injuries" EXACT []
synonym: "Blunt Head Injury" EXACT []
synonym: "Closed Head Injury" EXACT []
synonym: "Closed Head Trauma" EXACT []
synonym: "Closed Head Traumas" EXACT []
synonym: "Nonpenetrating Head Injuries" EXACT []
synonym: "Nonpenetrating Head Injury" EXACT []
xref: MESH:D016489
is_a: DOID:9006659 ! Nonpenetrating Wounds
is_a: DOID:9007621 ! Craniocerebral Trauma

[Term]
id: DOID:9006009
name: Neonatal Hypoglycemia, Simulating Foetopathia Diabetica
synonym: "Neonatal Hypoglycemia" EXACT []
xref: MESH:C565484
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9993 ! hypoglycemia

[Term]
id: DOID:9006010
name: Gingival Hyperplasia
def: "Non-inflammatory enlargement of the gingivae produced by factors other than local irritation. It is characteristically due to an increase in the number of cells. (From Jablonski's Dictionary of Dentistry, 1992, p400)" [MESH:D005885]
synonym: "Gingival Hyperplasias" EXACT []
xref: MESH:D005885
is_a: DOID:3086 ! gingival overgrowth

[Term]
id: DOID:9006012
name: Microcephaly with Spastic Quadriplegia
synonym: "Recessive microcephaly with spastic quadriplegia" EXACT []
xref: MESH:C537546
xref: RDO:0003405
is_a: DOID:10907 ! microcephaly
is_a: DOID:12835 ! quadriplegia

[Term]
id: DOID:9006013
name: Hematoma
def: "A collection of blood outside the BLOOD VESSELS. Hematoma can be localized in an organ, space, or tissue." [MESH:D006406]
synonym: "Hematomas" EXACT []
xref: EFO:0010680
xref: MESH:D006406
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9006014
name: Peritoneal Adhesions
def: "Pathological processes consisting of the union of the opposing surfaces of a wound or irritated areas in the peritoneum." []
synonym: "peritoneal adhesion" EXACT []
xref: RDO:9001183
is_a: DOID:9008113 ! Tissue Adhesions
created_by: rgd
creation_date: 2016-06-03T00:00:00Z

[Term]
id: DOID:9006015
name: Posterior Lumbosacral Vertebral Fusion with Blepharoptosis
alt_id: MIM:192800
synonym: "Congenital ptosis and posterior fusion of lumbosacral vertebrae" EXACT []
synonym: "Familial posterior lumbosacral vertebral fusion and eyelid ptosis" EXACT []
synonym: "Posterior Lumbosacral Vertebral Fusion, Blepharoptosis" EXACT []
xref: MESH:C536344
is_a: DOID:0060260 ! ptosis
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9006016
name: SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS
def: "An autosomal recessive encephalopathy characterized by onset of refractory seizures in the first year of life. Affected individuals show significant and progressive developmental regression associated with seizure onset. Features include hypotonia, peripheral spasticity, poor eye contact, and absent speech. Brain imaging shows cerebral atrophy, loss of white matter, and punctate calcification." [MIM:618875]
synonym: "early-onset seizures with neurodegeneration and brain calcifications" EXACT []
synonym: "SENEBAC" EXACT []
xref: MIM:618875
xref: MONDO:0030033
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:1826 ! epilepsy
created_by: slaulede
creation_date: 2020-08-17T17:48:15Z

[Term]
id: DOID:9006017
name: Skin/Hair/Eye Pigmentation, Variation In, 5
alt_id: MIM:227240
synonym: "SHEP5" EXACT []
synonym: "Skin-Hair-Eye Pigmentation 5, Black-Nonblack Hair" EXACT []
synonym: "Skin-Hair-Eye Pigmentation 5, Dark-Fair Skin" EXACT []
synonym: "Skin-Hair-Eye Pigmentation 5, Dark-Light Eyes" EXACT []
xref: MESH:C567119
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9006018
name: Gollop Coates Syndrome
synonym: "Bifurcation of distal humerus with oligoectro-syndactyly" EXACT []
xref: MESH:C537283
xref: RDO:0003098
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006019
name: Frias Syndrome
alt_id: MIM:609640
synonym: "CHROMOSOME 14q22 DELETION SYNDROME" EXACT []
synonym: "Growth Deficiency, Facial Anomalies, And Brachydactyly" EXACT []
xref: MESH:C535639
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9006020
name: Pyknoachondrogenesis
alt_id: MIM:265880
xref: MESH:C536251
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:9006021
name: Immunodeficiency 107
def: "An autosomal dominant immunologic disorder characterized most often by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs. Conferred by heterozygous mutation in the OTULIN gene on chromosome 5p15." [MIM:619986]
synonym: "IMD107" EXACT []
synonym: "Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection" EXACT []
xref: MIM:619986
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9008885 ! Staphylococcal Infections
created_by: mtutaj
creation_date: 2022-08-15T10:07:41Z

[Term]
id: DOID:9006022
name: Gingival Fibromatosis with Distinctive Facies
alt_id: MIM:228560
xref: MESH:C565567
is_a: DOID:0060466 ! gingival fibromatosis
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9006024
name: Hypotension
def: "Abnormally low BLOOD PRESSURE that can result in inadequate blood flow to the brain and other vital organs. Common symptom is DIZZINESS but greater negative impacts on the body occur when there is prolonged depravation of oxygen and nutrients." [MESH:D007022]
synonym: "Low Blood Pressure" EXACT []
synonym: "neurally mediated hypotension" NARROW []
synonym: "Vascular Hypotension" EXACT []
xref: EFO:0005251
xref: EFO:0005254
xref: MESH:D007022
is_a: DOID:0050828 ! artery disease

[Term]
id: DOID:9006025
name: Diaminopentanuria
alt_id: MIM:222350
synonym: "Cystine-Lysinuria" EXACT []
xref: MESH:C565630
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9007428 ! Muscle Spasticity
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9006026
name: Jejunal Atresia with Renal Adysplasia
alt_id: MIM:602551
alt_id: RDO:0003430
xref: MESH:C537567
is_a: DOID:10486 ! intestinal atresia
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9006027
name: Pfeiffer Rockelein Syndrome
synonym: "Asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia" EXACT []
xref: MESH:C537890
is_a: DOID:10486 ! intestinal atresia
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006028
name: Mammary-Digital-Nail Syndrome
synonym: "MDNS" EXACT []
xref: MIM:613689
is_a: DOID:225 ! syndrome
is_a: DOID:3463 ! breast disease
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9006029
name: Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting
alt_id: MIM:605856
synonym: "short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting" EXACT []
xref: MESH:C566989
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9002049 ! Anophthalmia
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9006030
name: Infant Death
def: "The death of a live-born INFANT within its first year of life." [MESH:D066088]
synonym: "DEATH IN INFANCY" EXACT []
synonym: "Infant Deaths" EXACT []
xref: MESH:D066088
xref: RDO:0015956
is_a: DOID:9000543 ! Death

[Term]
id: DOID:9006031
name: Abdominal Fibromatosis
def: "A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" [MESH:D018221]
synonym: "Abdominal Fibromatoses" EXACT []
xref: EFO:1001325
xref: MESH:D018221
is_a: DOID:0050871 ! fibroma

[Term]
id: DOID:9006032
name: NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE
alt_id: MIM:168885
def: "This disease is characterized by daily paroxysmal spells characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. The episodes tend to be triggered after sleeping, and most patients show improvement of the ocular symptoms over time. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia; most have mildly impaired intellectual development." [MIM:168885]
synonym: "Benign Childhood Paroxysmal Tonic Upgaze with Ataxia" EXACT []
synonym: "NOC2" EXACT []
synonym: "PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA" EXACT []
xref: MESH:C566817
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9006033
name: Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects
alt_id: MIM:603394
xref: MESH:C566377
is_a: DOID:10907 ! microcephaly
is_a: DOID:9001487 ! Facies
is_a: DOID:9002231 ! Fetal Growth Retardation

[Term]
id: DOID:9006034
name: Pseudohypoaldosteronism, Type IIC
alt_id: MIM:614492
alt_id: RDO:0013211
synonym: "PHA2C" EXACT []
synonym: "pseudohypoaldosteronism type 2C" EXACT []
xref: MESH:C564162
is_a: DOID:4479 ! pseudohypoaldosteronism

[Term]
id: DOID:9006035
name: Factor VIII Deficiency, Acquired
alt_id: RDO:0001962
synonym: "factor 8 deficiency, acquired" EXACT []
synonym: "hemophilia A, acquired" EXACT []
xref: MESH:C536392
is_a: DOID:12134 ! factor VIII deficiency

[Term]
id: DOID:9006036
name: Auriculocondylar Syndrome 2
synonym: "ARCND2" EXACT []
synonym: "ARCND2A" NARROW []
synonym: "ARCND2B" NARROW []
synonym: "auriculocondylar syndrome 2A" NARROW []
synonym: "auriculocondylar syndrome 2B" NARROW []
xref: MIM:614669
xref: MIM:620458
is_a: DOID:9000208 ! Auriculocondylar Syndrome

[Term]
id: DOID:9006037
name: Ectrodactyly-Polydactyly
alt_id: MIM:225290
xref: MESH:C565601
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9006038
name: Amebic Dysentery
def: "DYSENTERY caused by intestinal amebic infection, chiefly with ENTAMOEBA HISTOLYTICA. This condition may be associated with amebic infection of the LIVER and other distant sites." [MESH:D004404]
synonym: "Amebic Colitides" EXACT []
synonym: "Amebic Colitis" EXACT []
synonym: "Amebic Dysenteries" EXACT []
synonym: "Amoebic Colitides" EXACT []
synonym: "Amoebic Colitis" EXACT []
synonym: "Amoebic Dysenteries" EXACT []
synonym: "Amoebic Dysentery" EXACT []
synonym: "Intestinal Amebiases" EXACT []
synonym: "Intestinal Amebiasis" EXACT []
synonym: "Intestinal Amoebiases" EXACT []
synonym: "Intestinal Amoebiasis" EXACT []
synonym: "Intestinal Entamoebiases" EXACT []
synonym: "Intestinal Entamoebiasis" EXACT []
xref: MESH:D004404
is_a: DOID:12384 ! dysentery
is_a: DOID:9002892 ! Parasitic Intestinal Diseases
is_a: DOID:9181 ! amebiasis

[Term]
id: DOID:9006039
name: Ageusia
def: "Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS." [MESH:D000370]
synonym: "Hypogeusia" EXACT []
synonym: "Hypogeusias" EXACT []
synonym: "Hysterical Ageusia" EXACT []
synonym: "Hysterical Ageusias" EXACT []
synonym: "Taste Blindness" EXACT []
xref: EFO:1001758
xref: MESH:D000370
is_a: DOID:9001661 ! Taste Disorders

[Term]
id: DOID:9006040
name: Sinonasal Neoplasms
def: "A benign or malignant tumor of the nasal cavity and paranasal sinuses." []
is_a: DOID:9000118 ! Paranasal Sinus Neoplasms
is_a: DOID:9007971 ! Nose Neoplasms

[Term]
id: DOID:9006041
name: Osteoarthritis, Hip
def: "Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion." [MESH:D015207]
synonym: "Coxarthroses" EXACT []
synonym: "Coxarthrosis" EXACT []
synonym: "Hip Osteoarthritides" EXACT []
synonym: "Osteoarthritis Of Hip" EXACT []
synonym: "OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO" NARROW []
synonym: "Osteoarthritis Of Hips" EXACT []
xref: EFO:1000786
xref: MESH:D015207
xref: RDO:0006850
is_a: DOID:8398 ! osteoarthritis

[Term]
id: DOID:9006043
name: Erythrocyte Amp Deaminase Deficiency
alt_id: MIM:612874
xref: MESH:C567878
xref: RDO:0015768
is_a: DOID:0080000 ! muscular disease

[Term]
id: DOID:9006044
name: Microvillus Inclusion Disease 2
def: "A congenital enteropathy characterized by neonatal-onset intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. Caused by homozygous mutation in the STX3 gene on chromosome 11q12. (OMIM)" []
synonym: "DIAR12" EXACT []
synonym: "diarrhea 12 with microvillus atrophy" EXACT []
synonym: "MVID2" EXACT []
xref: MIM:619445
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0060774 ! congenital diarrhea
is_a: DOID:9002984 ! Malabsorption Syndromes
created_by: mtutaj
creation_date: 2021-07-27T13:36:31Z

[Term]
id: DOID:9006045
name: Dissecting Aneurysm
alt_id: RDO:0004842
def: "An aneurysm caused by a tear in the TUNICA INTIMA of a blood vessel leading to interstitial HEMORRHAGE, and splitting (dissecting) of the vessel wall, often involving the AORTA. Dissection between the tunica intima and TUNICA MEDIA causes luminal occlusion. Dissection at the media, or between the media and the outer ADVENTITIA causes aneurismal dilation." [MESH:D000784]
synonym: "Blood Vessel Dissection" EXACT []
synonym: "Dissecting Aneurysms" EXACT []
xref: MESH:D000784
is_a: DOID:9001665 ! Aneurysm

[Term]
id: DOID:9006046
name: Voice Disorders
def: "Pathological processes that affect voice production, usually involving VOCAL CORDS and the LARYNGEAL MUCOSA. Voice disorders can be caused by organic (anatomical), or functional (emotional or psychological) factors leading to DYSPHONIA; APHONIA; and defects in VOICE QUALITY, loudness, and pitch." [MESH:D014832]
synonym: "Neurologic Voice Disorder" EXACT []
synonym: "Neurologic Voice Disorders" EXACT []
synonym: "Voice Disorder" EXACT []
synonym: "Voice Disturbance" EXACT []
synonym: "Voice Disturbances" EXACT []
synonym: "Voice Fatigue" EXACT []
synonym: "Voice Fatigues" EXACT []
xref: EFO:0009692
xref: MESH:D014832
is_a: DOID:786 ! laryngeal disease
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9006047
name: Breast Cancer 3
alt_id: RDO:0014003
synonym: "BRCA3" EXACT []
synonym: "BRCAX" EXACT []
synonym: "BRCAX breast cancer" EXACT []
xref: EFO:0009443
xref: MESH:C565336
is_a: DOID:1612 ! breast cancer

[Term]
id: DOID:9006048
name: Major Affective Disorder 7
alt_id: MIM:612371
synonym: "MAFD7" EXACT []
xref: MESH:C567529
is_a: DOID:3312 ! bipolar disorder

[Term]
id: DOID:9006049
name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
def: "This disease is characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood." [MIM:620292]
synonym: "NEDLBAS" EXACT []
xref: MIM:620292
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2023-05-04T09:46:32Z

[Term]
id: DOID:9006050
name: undifferentiated sarcoma
def: "This a heterogeneous group of uncommon soft tissue sarcomas that do not show an identifiable line of differentiation using currently available technologies. This is a diagnosis of exclusion and includes undifferentiated pleomorphic sarcoma (also known as malignant fibrous histiocytoma), undifferentiated spindle cell sarcoma, undifferentiated round cell sarcoma, and undifferentiated epithelioid sarcoma." [NCI:C121793]
synonym: "Unclassified Soft Tissue Sarcoma" EXACT []
synonym: "Undifferentiated/Unclassified Sarcoma" EXACT []
synonym: "Undifferentiated/Unclassified Soft Tissue Sarcoma" EXACT []
synonym: "Undifferentiated Soft Tissue Sarcoma" EXACT []
synonym: "USTS" EXACT []
xref: EFO:0000730
is_a: DOID:1115 ! sarcoma
created_by: slaulede
creation_date: 2023-01-24T15:04:30Z

[Term]
id: DOID:9006051
name: Alzheimer's Disease, Familial, 3, with Spastic Paraparesis
synonym: "Alzheimer disease 3, with spastic paraparesis" EXACT []
synonym: "Alzheimer disease, familial, 3, with spastic paraparesis" EXACT []
is_a: DOID:0110042 ! Alzheimer's disease 3
created_by: rgd
creation_date: 2016-05-10T00:00:00Z

[Term]
id: DOID:9006052
name: Tooth Discoloration
def: "Any change in the hue, color, or translucency of a tooth due to any cause. Restorative filling materials, drugs (both topical and systemic), pulpal necrosis, or hemorrhage may be responsible. (Jablonski, Dictionary of Dentistry, 1992, p253)" [MESH:D014075]
synonym: "Tooth Discolorations" EXACT []
xref: MESH:D014075
is_a: DOID:1091 ! tooth disease

[Term]
id: DOID:9006053
name: Vasa Previa
def: "Pregnancy complication where fetal blood vessels, normally inside the umbilical cord, are left unprotected and cross FETAL MEMBRANES. It is associated with antepartum bleeding and FETAL DEATH and STILLBIRTH due to exsanguination." [MESH:D055949]
synonym: "Vasa Praevia" EXACT []
synonym: "Vasa Praevias" EXACT []
synonym: "Vasa Previas" EXACT []
xref: MESH:D055949
is_a: DOID:9000610 ! Obstetric Labor Complications

[Term]
id: DOID:9006054
name: Multiple Epiphyseal Dysplasia with Severe Proximal Femoral Dysplasia
alt_id: MIM:609324
xref: MESH:C563736
is_a: DOID:12721 ! multiple epiphyseal dysplasia

[Term]
id: DOID:9006055
name: Metaphyseal Chondrodysplasia, Kaitila Type
alt_id: MIM:250230
xref: MESH:C565400
is_a: DOID:9000073 ! Metaphyseal Chondrodysplasia

[Term]
id: DOID:9006057
name: Congenital Tracheobronchial Stenosis
alt_id: MIM:603569
xref: MESH:C566362
is_a: DOID:1176 ! bronchial disease
is_a: DOID:3227 ! tracheal stenosis
is_a: DOID:9001627 ! Pathologic Constriction

[Term]
id: DOID:9006058
name: Invasive Fungal Infections
def: "Mycoses which manifest as infections of deep tissue or blood." [MESH:D000072742]
synonym: "Invasive Fungal Infection" EXACT []
synonym: "Invasive Mycose" EXACT []
synonym: "Invasive Mycoses" EXACT []
xref: MESH:D000072742
xref: RDO:0016126
is_a: DOID:1564 ! fungal infectious disease

[Term]
id: DOID:9006059
name: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME
def: "This is a disease characterized by absent speech, impaired intellectual development, and autism." [MIM:620820]
synonym: "El Hayek-Chahrour neurodevelopmental disorder" EXACT []
synonym: "NEDEHC" EXACT []
synonym: "NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH, IMPAIRED INTELLECTUAL DEVELOPMENT, AND AUTISM" EXACT []
xref: MIM:620820
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulederkind
creation_date: 2024-06-11T10:49:58Z

[Term]
id: DOID:9006061
name: Cerebral Amyloidosis with Spongiform Encephalopathy
synonym: "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS" EXACT []
synonym: "prion dementia" EXACT []
xref: MESH:C535800
is_a: DOID:1307 ! dementia
is_a: DOID:649 ! prion disease

[Term]
id: DOID:9006062
name: Nervous System Trauma
def: "Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures." [MESH:D020196]
synonym: "axonotmeses" EXACT []
synonym: "Axonotmesis" EXACT []
synonym: "Craniocervical Injuries" EXACT []
synonym: "Craniocervical Injury" EXACT []
synonym: "Nervous System Injuries" EXACT []
synonym: "Nervous System Injury" EXACT []
synonym: "Nervous System Traumas" EXACT []
synonym: "Neurotmeses" EXACT []
synonym: "neurotmesis" EXACT []
xref: EFO:0009490
xref: MESH:D020196
is_a: DOID:863 ! nervous system disease
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9006063
name: Zimmermann-Laband Syndrome 3
synonym: "ZLS3" EXACT []
xref: MIM:618658
is_a: DOID:9004260 ! Zimmerman Laband Syndrome
created_by: mtutaj
creation_date: 2019-11-12T11:39:16Z

[Term]
id: DOID:9006064
name: Pouchitis
def: "Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE)." [MESH:D019449]
synonym: "Pouch Ileitis" EXACT []
xref: EFO:0003921
xref: MESH:D019449
is_a: DOID:0060189 ! ileitis

[Term]
id: DOID:9006065
name: Arthralgia
def: "Pain in the joint." [MESH:D018771]
synonym: "Arthralgias" EXACT []
synonym: "Joint Pain" EXACT []
synonym: "Joint Pains" EXACT []
synonym: "Polyarthralgia" EXACT []
synonym: "Polyarthralgias" EXACT []
xref: MESH:D018771
is_a: DOID:381 ! arthropathy
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9006066
name: Familial Cutaneous Collagenoma
alt_id: MIM:115250
xref: MESH:C562925
is_a: DOID:854 ! collagen disease
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:9006067
name: Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
alt_id: MIM:136600
xref: MESH:C564999
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:12705 ! Friedreich ataxia
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:9006068
name: Emanuel Syndrome
alt_id: MIM:609029
synonym: "22) SYNDROME" EXACT []
synonym: "Der(22) Syndrome Due To 3:1 Meiotic Disjunction Events" EXACT []
synonym: "Supernumary Der(22) Syndrome" EXACT []
synonym: "Supernumary Der(22)T(11;22) Syndrome" EXACT []
synonym: "Supernumary Derivative 22 Chromosome Syndrome" EXACT []
synonym: "Supernumerary der(22) syndrome" EXACT []
synonym: "SUPERNUMERARY DER(22)t(11" EXACT []
synonym: "Supernumerary der(22)t(11;22) syndrome" EXACT []
xref: MESH:C535733
xref: RDO:0001016
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9005603 ! Muscle Hypotonia

[Term]
id: DOID:9006069
name: vaginal melanoma
def: "This is a primary malignant neoplasm of the vagina composed of malignant melanocytes." [NCI:C27394]
synonym: "melanoma of vagina" EXACT []
synonym: "vagina melanoma" EXACT []
xref: EFO:1000619
is_a: DOID:0050929 ! mucosal melanoma
created_by: slaulede
creation_date: 2022-09-15T13:27:39Z

[Term]
id: DOID:9006070
name: Lethal Congenital Erythroderma
alt_id: MIM:227090
xref: MESH:C535513
is_a: DOID:9006215 ! Exfoliative Dermatitis

[Term]
id: DOID:9006071
name: Spastic Ataxia 10, Autosomal Recessive
def: "A slowly progressive movement disorder with a variable age at onset (range infancy to adulthood). Caused by homozygous or compound heterozygous mutation in the COQ4 gene on chromosome 9q34." [MIM:620666]
synonym: "SPAX10" EXACT []
xref: MIM:620666
is_a: DOID:0050952 ! spastic ataxia
created_by: tutajm
creation_date: 2024-01-19T10:29:09Z

[Term]
id: DOID:9006072
name: Neurodegeneration with Brain Iron Accumulation 9
def: "A disease characterized by global developmental delay apparent from infancy and progressive neurodegeneration of motor and cognitive skills. Caused by heterozygous mutation in the FTH1 gene on chromosome 11q12." [MIM:620669]
synonym: "NBIA9" EXACT []
xref: MIM:620669
is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation
created_by: tutajm
creation_date: 2024-01-19T10:22:00Z

[Term]
id: DOID:9006074
name: Tabatznik Syndrome
synonym: "Heart-hand syndrome 2" EXACT []
xref: MESH:C536784
xref: RDO:0002474
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9006075
name: Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome
def: "FHEIG is caused by heterozygous mutation in the KCNK4 gene on chromosome 11q13. (OMIM)" []
synonym: "FHEIG" EXACT []
synonym: "KCNK4-RELATED CONDITION" EXACT []
xref: MIM:618381
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:3086 ! gingival overgrowth
is_a: DOID:420 ! hypertrichosis
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: gthayman
creation_date: 2019-04-15T00:00:00Z

[Term]
id: DOID:9006076
name: Epilepsia Partialis Continua
def: "A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" [MESH:D017036]
synonym: "Chronic Progressive Epilepsia Partialis Continua" EXACT []
synonym: "Kojevnikov's Epilepsies" EXACT []
synonym: "Kojevnikov's Epilepsy" EXACT []
synonym: "Kojevnikov Epilepsy" EXACT []
synonym: "Kojewnikov's Epilepsy" EXACT []
synonym: "Kojewnikov Epilepsy" EXACT []
synonym: "Kojewnikow's Syndrome" EXACT []
synonym: "Kojewnikow Syndrome" EXACT []
synonym: "Kozhevnikov's Syndrome" EXACT []
synonym: "Kozhevnikov Syndrome" EXACT []
synonym: "Kozhevnikow Syndrome, Progressive Variant" EXACT []
synonym: "Progressive Variant of Kozhevnikow Syndrome" EXACT []
xref: EFO:1000924
xref: MESH:D017036
is_a: DOID:1824 ! status epilepticus

[Term]
id: DOID:9006077
name: Martinez-Frias Syndrome
alt_id: MIM:601346
synonym: "Diabetes, Neonatal, with Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia" EXACT []
synonym: "Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or without Tracheoesophageal Fistula" EXACT []
xref: MESH:C563346
is_a: DOID:0060262 ! gallbladder disease
is_a: DOID:10486 ! intestinal atresia
is_a: DOID:225 ! syndrome
is_a: DOID:9008498 ! Tracheoesophageal Fistula
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9006078
name: MHC CLASS I DEFICIENCY 2
def: "This disease is an autosomal recessive immunologic disorder characterized by the onset of chronic bacterial sinobronchial infections in the first or second decades of life. Patient cells have decreased or absent expression of MHC type I (HLA class I) antigens on the cell surface. This disease has_material_basis_in autosomal recessive inheritance of TAP2." [MIM:620813]
synonym: "MHC1D2" EXACT []
synonym: "TAP2-RELATED CONDITION" EXACT []
xref: MIM:620813
xref: MONDO:0971011
is_a: DOID:0060009 ! MHC class I deficiency
created_by: slaulederkind
creation_date: 2024-06-18T09:16:43Z

[Term]
id: DOID:9006079
name: Inherited Peripheral Neuropathy
xref: MESH:C548028
is_a: DOID:574 ! peripheral nervous system disease

[Term]
id: DOID:9006080
name: Acute Retroviral Syndrome
def: "Early stage of HIV infection. Symptoms resemble INFLUENZA or INFECTIOUS MONONUCLEOSIS." [MESH:D000071297]
xref: MESH:D000071297
is_a: DOID:225 ! syndrome
is_a: DOID:526 ! human immunodeficiency virus infectious disease

[Term]
id: DOID:9006081
name: Osteolysis
def: "Dissolution of bone that particularly involves the removal or loss of calcium." [MESH:D010014]
synonym: "Osteolyses" EXACT []
xref: MESH:D010014
is_a: DOID:0080011 ! bone resorption disease

[Term]
id: DOID:9006082
name: Methionine Malabsorption Syndrome
alt_id: MIM:250900
synonym: "Oasthouse Urine Disease" EXACT []
synonym: "Smith-Strang Disease" EXACT []
xref: MESH:C562682
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9004659 ! Respiration Disorders
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9006083
name: Fowler Christmas Chapple Syndrome
synonym: "voiding dysfunction and polycystic ovaries" EXACT []
xref: MESH:C537271
is_a: DOID:11612 ! polycystic ovary syndrome
is_a: DOID:9003919 ! Urination Disorders

[Term]
id: DOID:9006084
name: Gigantism
def: "The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPIPHYSES. It is usually caused by somatotroph hyperplasia or a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age." [MESH:D005877]
synonym: "Pituitary Gigantism" EXACT []
xref: MESH:D005877
is_a: DOID:0080006 ! bone development disease
is_a: DOID:2444 ! hyperpituitarism
is_a: DOID:9007819 ! Endocrine Bone Diseases

[Term]
id: DOID:9006085
name: Megalodactyly
alt_id: MIM:155500
synonym: "Macrodactyly" EXACT []
xref: MESH:C562546
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9006086
name: Intervertebral Disc Displacement
def: "An INTERVERTEBRAL DISC in which the NUCLEUS PULPOSUS has protruded through surrounding ANNULUS FIBROSUS. This occurs most frequently in the lower lumbar region." [MESH:D007405]
synonym: "Disk Prolapse" EXACT []
synonym: "Disk Prolapses" EXACT []
synonym: "Herniated Disc" EXACT []
synonym: "Herniated Discs" EXACT []
synonym: "Herniated Disk" EXACT []
synonym: "Herniated Disks" EXACT []
synonym: "Intervertebral Disc Displacements" EXACT []
synonym: "Intervertebral Disk Displacement" EXACT []
synonym: "Intervertebral Disk Displacements" EXACT []
synonym: "Prolapsed Disc" EXACT []
synonym: "Prolapsed Discs" EXACT []
synonym: "Prolapsed Disk" EXACT []
synonym: "Prolapsed Disks" EXACT []
synonym: "Slipped Disc" EXACT []
synonym: "Slipped Discs" EXACT []
synonym: "Slipped Disk" EXACT []
synonym: "Slipped Disks" EXACT []
xref: EFO:1001800
xref: MESH:D007405
is_a: DOID:0060564 ! spinal disease
is_a: DOID:9000585 ! Intervertebral Disc Disease

[Term]
id: DOID:9006087
name: Skeletal Dysplasia, San Diego Type
xref: MESH:C536670
is_a: DOID:13481 ! thanatophoric dysplasia
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:9006088
name: Familial Vascular Leukoencephalopathy
xref: MESH:C531642
is_a: DOID:13945 ! CADASIL

[Term]
id: DOID:9006089
name: Opticospinal Multiple Sclerosis
synonym: "Opticospinal MS" EXACT []
synonym: "Optic-Spinal MS" EXACT []
synonym: "Optic-Spinal Multiple Sclerosis" EXACT []
xref: MESH:C580329
is_a: DOID:2377 ! multiple sclerosis

[Term]
id: DOID:9006090
name: Colonic Varices without Portal Hypertension
alt_id: MIM:120440
xref: MESH:C565172
is_a: DOID:799 ! varicose veins

[Term]
id: DOID:9006091
name: Gurrieri Sammito Bellussi Syndrome
alt_id: MIM:601187
synonym: "Gurrieri syndrome" EXACT []
synonym: "Skeletal dysplasia epilepsy short stature" EXACT []
xref: MESH:C537625
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006092
name: Spondyloepimetaphyseal Dysplasia, Irapa Type
alt_id: MIM:271650
synonym: "SEMDIT" EXACT []
xref: MESH:C562958
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia

[Term]
id: DOID:9006094
name: Conductive Deafness with Malformed External Ear
alt_id: MIM:221300
xref: MESH:C565644
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9006095
name: Ascites
def: "Accumulation or retention of free fluid within the peritoneal cavity." [MESH:D001201]
xref: MESH:D001201
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9006096
name: Uterine Cervical Dysplasia
def: "Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE." [MESH:D002578]
synonym: "Cervix Dysplasia" EXACT []
xref: EFO:1000910
xref: MESH:D002578
xref: RDO:0005174
is_a: DOID:0060071 ! pre-malignant neoplasm
is_a: DOID:2253 ! cervix disease

[Term]
id: DOID:9006097
name: Sheep Diseases
def: "Diseases of domestic and mountain sheep of the genus Ovis." [MESH:D012757]
synonym: "Ovine Disease" EXACT []
synonym: "Ovine Diseases" EXACT []
synonym: "Sheep Disease" EXACT []
xref: MESH:D012757
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9006098
name: Abetalipoproteinemia Neuropathy
xref: MESH:C540309
is_a: DOID:1386 ! abetalipoproteinemia
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9006099
name: 5-Oxoprolinase Deficiency
alt_id: MIM:260005
def: "5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS) or 5-oxoprolinase (OPLAH). GSS deficiency (266130) is best characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria. (OMIM)" []
synonym: "5-alpha-oxoprolinase deficiency" EXACT []
synonym: "OPLAHD" EXACT []
synonym: "oxoprolinuria due to 5-oxoprolinase deficiency" EXACT []
synonym: "oxoprolinuria due to oxoprolinase deficiency" EXACT []
xref: MESH:C535322
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9006100
name: Tang Hsi Ryu Syndrome
synonym: "Ascitis, splenomegaly, lymphadenopathy" EXACT []
synonym: "Polyneuropathy hepatosplenomegaly hyperpigmentation" EXACT []
synonym: "Syndrome of polyneuropathy, skin hyperpigmentation, oedema and hepatosplenomegaly" EXACT []
xref: MESH:C536897
xref: RDO:0002615
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:225 ! syndrome
is_a: DOID:863 ! nervous system disease
is_a: DOID:9002720 ! Splenomegaly
is_a: DOID:9005369 ! Hepatomegaly

[Term]
id: DOID:9006101
name: Primary Ovarian Failure
synonym: "Female hypergonadotropic hypogonadism" EXACT []
synonym: "Hypergonadotrophic ovarian failure" EXACT []
synonym: "Primary female hypogonadism" EXACT []
is_a: DOID:1100 ! ovarian disease
created_by: slaulede
creation_date: 2020-03-17T12:38:29Z

[Term]
id: DOID:9006102
name: Right Ventricular Hypertrophy
alt_id: RDO:0007043
def: "Enlargement of the RIGHT VENTRICLE of the heart. This increase in ventricular mass is often attributed to PULMONARY HYPERTENSION and is a contributor to cardiovascular morbidity and mortality." [MESH:D017380]
synonym: "hypertrophy of right ventricle" EXACT []
synonym: "Right Ventricular Hypertrophies" EXACT []
xref: MESH:D017380
is_a: DOID:9003936 ! Cardiomegaly

[Term]
id: DOID:9006103
name: Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
xref: MESH:C537969
is_a: DOID:11836 ! clubfoot
is_a: DOID:1934 ! dysostosis
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:9006104
name: Multiple Syringomas
alt_id: MIM:186600
xref: MESH:C566085
is_a: DOID:2065 ! syringoma

[Term]
id: DOID:9006105
name: Craniomandibular Disorders
def: "Diseases or disorders of the muscles of the head and neck, with special reference to the masticatory muscles. The most notable examples are TEMPOROMANDIBULAR JOINT DISORDERS and TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." [MESH:D017271]
synonym: "craniomandibular disease" EXACT []
synonym: "craniomandibular diseases" EXACT []
synonym: "craniomandibular disorder" EXACT []
xref: MESH:D017271
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9006309 ! Mandibular Diseases

[Term]
id: DOID:9006106
name: Spastic Paraplegia Type 5B, Recessive
xref: MESH:C536872
is_a: DOID:2476 ! hereditary spastic paraplegia

[Term]
id: DOID:9006107
name: Secondary Dentin
def: "Dentin formed by normal pulp after completion of root end formation." [MESH:D003809]
synonym: "Secondary Dentins" EXACT []
xref: MESH:D003809
is_a: DOID:5330 ! dental pulp disease

[Term]
id: DOID:9006108
name: Uniparental Disomy
def: "The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy)." [MESH:D024182]
synonym: "Uniparental Disomies" EXACT []
synonym: "Uniparental Heterodisomies" EXACT []
synonym: "Uniparental Heterodisomy" EXACT []
synonym: "Uniparental Isodisomies" EXACT []
synonym: "Uniparental Isodisomy" EXACT []
xref: MESH:D024182
is_a: DOID:9003254 ! Genetic Nondisjunction

[Term]
id: DOID:9006109
name: Goodman Camptodactyly
alt_id: MIM:201020
synonym: "Acrocephalopolysyndactyly type 4" EXACT []
synonym: "Acrocephalopolysyndactyly Type IV" EXACT []
synonym: "Goodman syndrome" EXACT []
xref: MESH:C537287
is_a: DOID:12960 ! acrocephalosyndactylia
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9006111
name: Systemic Venular Insufficiency
alt_id: MIM:192700
xref: MESH:C566004
is_a: DOID:10128 ! venous insufficiency

[Term]
id: DOID:9006112
name: Mucoepidermoid Tumor
def: "A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" [MESH:D018298]
synonym: "Mucoepidermoid Tumors" EXACT []
xref: EFO:1001049
xref: MESH:D018298
xref: MONDO:0003036
xref: RDO:0007170
is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms

[Term]
id: DOID:9006113
name: Gallstones
def: "Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin." [MESH:D042882]
synonym: "Biliary Calculi" EXACT []
synonym: "Biliary Calculi, Common Bile Duct" EXACT []
synonym: "Common Bile Duct Calculi" EXACT []
synonym: "Common Bile Duct Gall Stones" EXACT []
synonym: "Common Bile Duct Gallstones" EXACT []
synonym: "Gall Stone" EXACT []
synonym: "Gallstone" EXACT []
synonym: "Gall Stones" EXACT []
xref: EFO:0004210
xref: MESH:D042882
is_a: DOID:10211 ! cholelithiasis
is_a: DOID:11151 ! cholecystolithiasis
is_a: DOID:9005602 ! Calculi

[Term]
id: DOID:9006114
name: Bird Diseases
def: "Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from POULTRY DISEASES which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc." [MESH:D001715]
synonym: "Avian Disease" EXACT []
synonym: "Avian Diseases" EXACT []
synonym: "Bird Disease" EXACT []
xref: MESH:D001715
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9006115
name: Dyskinesia with Orofacial Involvement, Autosomal Dominant
alt_id: MIM:606703
synonym: "DSKOD" NARROW []
synonym: "dyskinesia with orofacial involvement, autosomal dominant" NARROW []
is_a: DOID:9007924 ! Dyskinesia with Orofacial Involvement
created_by: mtutaj
creation_date: 2023-03-07T14:19:05Z

[Term]
id: DOID:9006117
name: Low Vision
def: "Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.)." [MESH:D015354]
synonym: "diminished vision" EXACT []
synonym: "reduced vision" EXACT []
synonym: "subnormal vision" EXACT []
xref: MESH:D015354
is_a: DOID:9000343 ! Vision Disorders

[Term]
id: DOID:9006118
name: Amyloid Angiopathy
synonym: "Amyloidosis - cerebral" EXACT []
synonym: "Senile cerebral amyloid angiopathy" EXACT []
xref: MESH:C538248
xref: RDO:0004199
is_a: DOID:9246 ! cerebral amyloid angiopathy

[Term]
id: DOID:9006120
name: Absent Patella
alt_id: MIM:168860
synonym: "Familial absence of the patella" EXACT []
synonym: "Familial aplasia of the patella" EXACT []
synonym: "Patella aplasia-hypoplasia" EXACT []
synonym: "PTLAH" EXACT []
xref: MESH:C535568
xref: RDO:0000764
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9006121
name: Infantile Apparent Life-Threatening Event
def: "An event experienced by an infant or a child that is characterized by some combination of apnea, color change, change in muscle tone, choking, and gagging." [MESH:D057768]
synonym: "Idiopathic Apparent Life Threatening Event" EXACT []
xref: MESH:D057768
xref: RDO:0007792
is_a: DOID:11162 ! respiratory failure
is_a: DOID:9000575 ! Respiratory Signs and Symptoms
is_a: DOID:9000781 ! Cyanosis

[Term]
id: DOID:9006122
name: Rokitansky-Aschoff Sinuses of the Gallbladder
synonym: "Intramural diverticulosis of the gallbladder" EXACT []
synonym: "Rokitansky-Aschoff sinuses" EXACT []
xref: MESH:C535869
is_a: DOID:8719 ! in situ carcinoma
is_a: DOID:9000011 ! Gallbladder Neoplasms

[Term]
id: DOID:9006123
name: Mitochondrial Complex III Deficiency Nuclear Type 11
def: "An autosomal recessive disorder characterized by recurrent episodes of severe lactic acidosis, hyperammonemia, hypoglycemia, and encephalopathy. Caused by homozygous mutation in the UQCRH gene on chromosome 1p33." [MIM:620137]
synonym: "MC3DN11" EXACT []
xref: MIM:620137
is_a: DOID:0111139 ! mitochondrial complex III deficiency
created_by: mtutaj
creation_date: 2022-11-29T07:53:53Z

[Term]
id: DOID:9006124
name: Albinism Deafness Syndrome
alt_id: MIM:300700
alt_id: RDO:0002800
synonym: "ADFN" EXACT []
synonym: "ALDS" EXACT []
xref: MESH:C537042
is_a: DOID:225 ! syndrome
is_a: DOID:9001386 ! Albinism
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9006125
name: Myopia 15
alt_id: MIM:612717
synonym: "MYOPIA 15, AUTOSOMAL DOMINANT" EXACT []
synonym: "MYP15" EXACT []
xref: MESH:C567193
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9006127
name: Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features
alt_id: MIM:612948
xref: MESH:C548086
is_a: DOID:4448 ! macular degeneration
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9006128
name: Kilquist Syndrome
def: "An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. (OMIM)" []
synonym: "KILQS" EXACT []
xref: MIM:619080
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: mtutaj
creation_date: 2020-11-10T14:20:20Z

[Term]
id: DOID:9006129
name: Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques
synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques" EXACT []
synonym: "Alzheimer disease, familial, 3, with unusual plaques" EXACT []
synonym: "Alzheimer disease, familial, with spastic paraparesis and unusual plaques" EXACT []
xref: MESH:C564329
is_a: DOID:9006051 ! Alzheimer's Disease, Familial, 3, with Spastic Paraparesis

[Term]
id: DOID:9006130
name: Prostate Cancer, Hereditary, X-Linked 1
synonym: "HPCX1" EXACT []
synonym: "PCSX" EXACT []
synonym: "PROSTATE CANCER SUSCEPTIBILITY, X-LINKED" EXACT []
xref: MIM:300147
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9006131
name: Genoa Syndrome
alt_id: MIM:601370
synonym: "Camera Lituania Cohen syndrome" EXACT []
synonym: "Holoprosencephaly craniosynostosis" EXACT []
synonym: "holoprosencephaly-craniosynostosis syndrome" EXACT []
synonym: "Semilobar holoprosencephaly and primary craniosynostosis" EXACT []
synonym: "Semilobar holoprosencephaly with craniosynostosis" EXACT []
xref: GARD:2454
xref: MESH:C537684
xref: MONDO:0011059
xref: ORDO:2163
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:4621 ! holoprosencephaly

[Term]
id: DOID:9006132
name: Bresheck/Bresek Syndrome
synonym: "Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, and Kidney Dysplasia/Hypoplasia" EXACT []
synonym: "Bresek Syndrome" EXACT []
synonym: "Bresheck Syndrome" EXACT []
xref: MESH:C564519
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9006134
name: Odontogenic Tumors
def: "Neoplasms produced from tooth-forming tissues." [MESH:D009808]
synonym: "Dental Tissue Neoplasm" EXACT []
synonym: "Dental Tissue Neoplasms" EXACT []
synonym: "Odontogenic Tumor" EXACT []
synonym: "Primary Intraosseous Squamous Cell Carcinoma" NARROW []
xref: EFO:1000492
xref: MESH:D009808
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:9006136
name: Peripapillary Atrophy, Beta Type
alt_id: MIM:611650
synonym: "Beta-PPA" EXACT []
synonym: "Peripapillary Chorioretinal Atrophy, Beta Type" EXACT []
xref: MESH:C566898
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9006137
name: Renal Tubular Dysgenesis
alt_id: DOID:9006774
def: "This disease is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder." []
synonym: "Allanson Pantzar McLeod Syndrome" EXACT []
synonym: "autosomal recessive renal tubular dysgenesis" EXACT []
synonym: "Primitive renal tubule syndrome" EXACT []
synonym: "Renal tubular dysgenesis" EXACT []
synonym: "RENAL TUBULAR DYSGENESIS OF GENETIC ORIGIN" EXACT []
synonym: "Renotubular dysgenesis" EXACT []
synonym: "REN-RELATED CONDITION" BROAD []
synonym: "RTD" EXACT []
xref: MESH:C537048
xref: MIM:267430
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9006138
name: Laminopathies
def: "Genetic diseases caused by mutations of the lamin A/C gene (LMNA): dystrophies of skeletal and/or cardiac muscles, and partial lipodystrophies." []
synonym: "laminopathy" EXACT []
xref: MESH:D000083083
is_a: DOID:630 ! genetic disease
created_by: rgd
creation_date: 2016-06-16T00:00:00Z

[Term]
id: DOID:9006139
name: Immunodeficiency 89 and Autoimmunity
def: "An autosomal recessive immune disorder characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease. Caused by homozygous mutation in the CARD10 gene on chromosome 22q13." [MIM:619632]
synonym: "IMD89" EXACT []
xref: MIM:619632
is_a: DOID:417 ! autoimmune disease
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2021-11-30T10:43:37Z

[Term]
id: DOID:9006140
name: Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies
def: "An autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. (OMIM)" []
synonym: "NDMSBA" EXACT []
xref: MIM:617527
is_a: DOID:10907 ! microcephaly
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2017-07-12T00:00:00Z

[Term]
id: DOID:9006141
name: Childhood Absence Epilepsy 5
synonym: "ECA5" EXACT []
synonym: "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5" RELATED []
xref: MIM:612269
is_a: DOID:1825 ! childhood absence epilepsy
created_by: mtutaj
creation_date: 2022-10-25T08:10:18Z

[Term]
id: DOID:9006142
name: Palmer Pagon Syndrome
xref: MESH:C538107
xref: RDO:0004039
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006143
name: Autosomal Recessive Nonsyndromic Deafness 121
def: "A disease characterized by congenital or prelingual moderate sensorineural hearing loss. Caused by homozygous or compound heterozygous mutation in the GPR156 gene on chromosome 3q13." [MIM:620551]
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 121" EXACT []
synonym: "DFNB121" EXACT []
xref: MIM:620551
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
created_by: tutajm
creation_date: 2023-10-30T09:37:31Z

[Term]
id: DOID:9006145
name: Congenital Heart Defects, Multiple Types, 9
def: "A disease characterized by common arterial trunk (truncus arteriosus communis) in most patients, associated with other cardiac defects, including tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies. Caused by homozygous or compound heterozygous mutation in the PLXND1 gene on chromosome 3q22." [MIM:620294]
synonym: "CHTD9" EXACT []
xref: MIM:620294
is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types
created_by: mtutaj
creation_date: 2023-03-31T08:28:41Z

[Term]
id: DOID:9006146
name: Ovarian Hyperandrogenism
def: "This involves increased production of androgens by the ovaries." []
xref: EFO:0009008
is_a: DOID:11613 ! hyperandrogenism
created_by: slaulede
creation_date: 2022-10-25T14:29:09Z

[Term]
id: DOID:9006147
name: Lactose Intolerance, Adult Type
alt_id: MIM:223100
synonym: "Adult Lactase Deficiency" EXACT []
synonym: "Disaccharide Intolerance III" EXACT []
synonym: "DISACCHARIDE INTOLERANCE III LACTASE PERSISTENCE" NARROW []
synonym: "Hypolactasia, Adult Type" EXACT []
xref: EFO:1000063
xref: MESH:C562601
xref: RDO:0012245
is_a: DOID:10604 ! lactose intolerance

[Term]
id: DOID:9006148
name: King's Evil
alt_id: RDO:0007221
def: "The historic designation for scrofula (TUBERCULOSIS, LYMPH NODE). The disease is so called from the belief that it could be healed by the touch of a king. This term is used only for historical articles using the name 'king's evil', and is to be differentiated from scrofula as lymph node tuberculosis in modern clinical medicine. (From Webster, 3d ed)" [MESH:D018601]
synonym: "Kings Evil" EXACT []
synonym: "Kings Evils" EXACT []
xref: MESH:D018601
is_a: DOID:4889 ! lymph node tuberculosis

[Term]
id: DOID:9006149
name: Chromosome 14q, Proximal Duplication
synonym: "Duplication 14q proximal" EXACT []
synonym: "Trisomy 14q proximal" EXACT []
xref: MESH:C538032
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9006150
name: Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2
xref: MESH:C563712
is_a: DOID:0060480 ! left ventricular noncompaction

[Term]
id: DOID:9006151
name: Choroidal Neovascularization, Experimental
def: "Choroidal neovascularization that is induced in experimental animals by use of laser, hypoxia, or chemical injury." []
xref: RDO:9000349
is_a: DOID:9001044 ! Choroidal Neovascularization
is_a: DOID:9006205 ! Animal Disease Models
created_by: rgd
creation_date: 2016-06-03T00:00:00Z

[Term]
id: DOID:9006152
name: Enuresis, Nocturnal, 2
alt_id: MIM:600808
synonym: "ENUR2" EXACT []
xref: MESH:C563439
xref: RDO:0012695
is_a: DOID:9004956 ! Nocturnal Enuresis

[Term]
id: DOID:9006153
name: Glycogen Storage Disease XII
alt_id: MIM:611881
synonym: "ALDOA Deficiency" EXACT []
synonym: "Aldolase A Deficiency" EXACT []
synonym: "GSD12" EXACT []
synonym: "GSD XII" EXACT []
synonym: "Red Cell Aldolase Deficiency" EXACT []
xref: MESH:C562718
is_a: DOID:2747 ! glycogen storage disease

[Term]
id: DOID:9006154
name: Accessory Atrioventricular Bundle
def: "Extra impulse-conducting tissue in the heart that creates abnormal impulse-conducting connections between HEART ATRIA and HEART VENTRICLES." [MESH:D058606]
synonym: "Accessory Atrioventricular Bundles" EXACT []
synonym: "Accessory Atrioventricular Pathway" EXACT []
synonym: "Accessory Atrioventricular Pathways" EXACT []
synonym: "Accessory Conducting Pathway" EXACT []
synonym: "Accessory Conducting Pathways" EXACT []
synonym: "Atrio Hisian Bypass Tract" EXACT []
synonym: "Atrio-Hisian Bypass Tracts" EXACT []
synonym: "Atriohisian Fiber" EXACT []
synonym: "Atriohisian Fibers" EXACT []
synonym: "Atriohisian Tract" EXACT []
synonym: "Atriohisian Tracts" EXACT []
synonym: "Bundle of Kent" EXACT []
synonym: "Concealed Accessory Pathway" EXACT []
synonym: "Concealed Accessory Pathways" EXACT []
synonym: "Fasciculoventricular Accessory Pathway" EXACT []
synonym: "Fasciculoventricular Accessory Pathways" EXACT []
synonym: "Fasciculoventricular Pathway" EXACT []
synonym: "Fasciculoventricular Pathways" EXACT []
synonym: "James Fibers" EXACT []
synonym: "Kent Bundle" EXACT []
synonym: "Mahaim Fibers" EXACT []
synonym: "Nodoventricular Accessory Pathway" EXACT []
synonym: "Nodoventricular Accessory Pathways" EXACT []
synonym: "Nodoventricular Pathway" EXACT []
synonym: "Nodoventricular Pathways" EXACT []
xref: MESH:D058606
xref: RDO:0007842
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9006155
name: Amniotic Fluid Embolism
def: "Blocking of maternal circulation by AMNIOTIC FLUID that is forced into uterine VEINS by strong UTERINE CONTRACTION near the end of pregnancy. It is characterized by the sudden onset of severe respiratory distress and HYPOTENSION that can lead to maternal DEATH." [MESH:D004619]
synonym: "Amniotic Fluid Embolisms" EXACT []
xref: EFO:1001263
xref: MESH:D004619
is_a: DOID:9002522 ! Embolism
is_a: DOID:9008614 ! Cardiovascular Pregnancy Complications

[Term]
id: DOID:9006156
name: Familial Cystic Parathyroid Adenomatosis
synonym: "CYSTIC PARATHYROID ADENOMA" EXACT []
synonym: "CYSTIC PARATHYROID ADENOMA, SOMATIC" NARROW []
xref: MESH:C564165
is_a: DOID:11202 ! primary hyperparathyroidism
is_a: DOID:1862 ! jaw cancer
is_a: DOID:657 ! adenoma
is_a: DOID:9004331 ! Parathyroid Neoplasms

[Term]
id: DOID:9006157
name: X Chromosome, Monosomy Xp22 pter
synonym: "Deletion Xp22 pter" EXACT []
synonym: "Monosomy Xp22 pter" EXACT []
xref: MESH:C536754
xref: RDO:0002434
is_a: DOID:9003307 ! Sex Chromosome Aberrations
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9006158
name: Peroxisome Biogenesis Disorder, Complementation Group K
synonym: "CGK" NARROW []
xref: MESH:C566624
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9006159
name: Undefined Platelet Disorder
alt_id: MIM:173420
xref: MESH:C566799
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:9006161
name: Osteochondritis
alt_id: RDO:0000870
def: "Inflammation of a bone and its overlaying CARTILAGE." [MESH:D010007]
synonym: "meniscitides" EXACT []
synonym: "Meniscitis" EXACT []
synonym: "osteochondritides" EXACT []
xref: MESH:D010007
is_a: DOID:1222 ! cartilage disease
is_a: DOID:8125 ! osteochondrosis

[Term]
id: DOID:9006162
name: Endotoxin Hyporesponsiveness
xref: MESH:C566417
xref: RDO:0014776
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9006163
name: Microcephaly, Retinitis Pigmentosa, and Sutural Cataract
alt_id: MIM:601537
xref: MESH:C563296
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:10907 ! microcephaly
is_a: DOID:83 ! cataract

[Term]
id: DOID:9006165
name: Porokeratosis 6, Multiple Types
def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, reports of several families with expression of more than one variant of porokeratosis among members, and of individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. POROK6 maps to chromosome 1p31. (OMIM)" []
synonym: "disseminated superficial actinic porokeratosis 4" EXACT []
synonym: "disseminated superficial porokeratosis 6" EXACT []
synonym: "DSAP4" EXACT []
synonym: "POROK6" EXACT []
xref: MIM:612353
is_a: DOID:3805 ! porokeratosis

[Term]
id: DOID:9006166
name: Pulmonary Hypertension, Hypoxia-Induced 
def: "Increased vascular resistance in the pulmonary circulation, secondary to hypoxia." []
xref: RDO:9000421
is_a: DOID:6432 ! pulmonary hypertension
created_by: rgd
creation_date: 2015-10-09T00:00:00Z

[Term]
id: DOID:9006167
name: Partial Agenesis of Corpus Callosum, X-Linked
alt_id: MIM:304100
xref: MESH:C564115
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9007462 ! Partial Agenesis of Corpus Callosum

[Term]
id: DOID:9006168
name: Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive
alt_id: MIM:604431
xref: MESH:C565773
is_a: DOID:2477 ! motor peripheral neuropathy

[Term]
id: DOID:9006169
name: Head and Neck Neoplasms
alt_id: RDO:0000780
def: "Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" [MESH:D006258]
synonym: "Cancer of Head" NARROW []
synonym: "Cancer of Neck" NARROW []
synonym: "Cancer of the Head" NARROW []
synonym: "Cancer of the Neck" NARROW []
synonym: "Head Cancer" NARROW []
synonym: "Head, Neck Neoplasms" EXACT []
synonym: "Head Neoplasms" EXACT []
synonym: "Neck Cancer" NARROW []
synonym: "Neck Neoplasms" EXACT []
synonym: "UADT Neoplasm" EXACT []
synonym: "UADT Neoplasms" EXACT []
synonym: "upper aerodigestive tract neoplasm" EXACT []
synonym: "Upper Aerodigestive Tract Neoplasms" EXACT []
xref: EFO:0004284
xref: EFO:0005950
xref: MESH:D006258
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:9006170
name: Hyperheparinemia
alt_id: MIM:144050
xref: MESH:C562723
is_a: DOID:1247 ! blood coagulation disease

[Term]
id: DOID:9006171
name: Gaucher Disease, Type IIIb
xref: MESH:C565555
is_a: DOID:0110959 ! Gaucher's disease type III

[Term]
id: DOID:9006172
name: Urinary Bladder Fistula
def: "An abnormal passage in the URINARY BLADDER or between the bladder and any surrounding organ." [MESH:D001747]
synonym: "Urinary Bladder Fistulas" EXACT []
synonym: "Vesical Fistula" EXACT []
synonym: "Vesical Fistulas" EXACT []
xref: EFO:1001862
xref: MESH:D001747
xref: RDO:0005012
is_a: DOID:365 ! bladder disease
is_a: DOID:9007335 ! Urinary Fistula

[Term]
id: DOID:9006174
name: Chromosome 2, Monosomy 2q
synonym: "Deletion 2q" EXACT []
synonym: "Monosomy 2q" EXACT []
xref: MESH:C538315
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9006175
name: Peritoneal Diseases
def: "Pathological processes involving the PERITONEUM." [MESH:D010532]
synonym: "disease of peritoneum" EXACT []
synonym: "Peritoneal Disease" EXACT []
xref: EFO:0009541
xref: MESH:D010532
is_a: DOID:77 ! gastrointestinal system disease

[Term]
id: DOID:9006176
name: Cardioneuromyopathy with Hyaline Masses and Nemaline Rods
alt_id: MIM:606842
xref: MESH:C564655
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:2477 ! motor peripheral neuropathy
is_a: DOID:3191 ! nemaline myopathy

[Term]
id: DOID:9006177
name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
def: "This disease is characterized by severe dilated cardiomyopathy resulting in death or cardiac transplantation in childhood. Various ectodermal abnormalities may be present in patients." [MIM:620519]
synonym: "ARCME" EXACT []
xref: MIM:620519
is_a: DOID:0050700 ! cardiomyopathy
created_by: slaulederkind
creation_date: 2023-11-07T13:23:38Z

[Term]
id: DOID:9006178
name: Dysphonia
def: "Difficulty and/or pain in PHONATION or speaking." [MESH:D055154]
synonym: "Hyperkinetic Dysphonia" EXACT []
synonym: "Neurologic Adducter Spastic Dysphonia" EXACT []
synonym: "Organic Tremor Dysphonia" EXACT []
synonym: "Phonation Disorder" EXACT []
synonym: "Phonation Disorders" EXACT []
synonym: "Spastic Dysphonia" EXACT []
xref: MESH:D055154
is_a: DOID:9006046 ! Voice Disorders

[Term]
id: DOID:9006179
name: Autoimmune Progesterone Dermatitis
xref: MESH:C535299
is_a: DOID:2723 ! dermatitis
is_a: DOID:417 ! autoimmune disease

[Term]
id: DOID:9006181
name: Congenital Muscular Dystrophy with Central Nervous System Involvement
alt_id: RDO:0004132
synonym: "Muscular dystrophy, congenital progressive, with mental retardation" EXACT []
xref: MESH:C538190
is_a: DOID:0050560 ! Walker-Warburg syndrome

[Term]
id: DOID:9006182
name: Carotid Artery Injuries
def: "Damages to the CAROTID ARTERIES caused either by blunt force or penetrating trauma, such as CRANIOCEREBRAL TRAUMA; THORACIC INJURIES; and NECK INJURIES. Damaged carotid arteries can lead to CAROTID ARTERY THROMBOSIS; CAROTID-CAVERNOUS SINUS FISTULA; pseudoaneurysm formation; and INTERNAL CAROTID ARTERY DISSECTION. (From Am J Forensic Med Pathol 1997, 18:251; J Trauma 1994, 37:473)" [MESH:D020212]
synonym: "Carotid Arteriopathies, Traumatic" EXACT []
synonym: "Carotid Artery Injury" EXACT []
synonym: "Carotid Artery Trauma" EXACT []
synonym: "Carotid False Aneurysm" EXACT []
synonym: "Carotid False Aneurysms" EXACT []
synonym: "Carotid Pseudoaneurysm" EXACT []
synonym: "Traumatic Carotid Arteriopathy" EXACT []
xref: MESH:D020212
is_a: DOID:3407 ! carotid artery disease
is_a: DOID:9001829 ! Cerebrovascular Trauma
is_a: DOID:9002056 ! Arterial Injury

[Term]
id: DOID:9006183
name: Ventriculomegaly and Arthrogryposis
def: "A severe autosomal recessive congenital disorder characterized by the onset of features in utero that are not compatible with life. Caused by homozygous mutation in the KIDINS220 gene on chromosome 2p25. (OMIM)" []
synonym: "KIDINS220-RELATED CONDITION" BROAD []
synonym: "VENARG" EXACT []
xref: MIM:619501
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:9009131 ! Ventriculomegaly
created_by: mtutaj
creation_date: 2021-09-01T15:27:22Z

[Term]
id: DOID:9006185
name: Schwartz Cohen-Addad Lambert Syndrome
synonym: "Congenital melanocytosis with myelomeningocele and hydrocephalus" EXACT []
xref: MESH:C535835
xref: RDO:0001163
is_a: DOID:0060326 ! myelomeningocele
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome
is_a: DOID:9001583 ! Melanosis

[Term]
id: DOID:9006187
name: Immunodeficiency 84
def: "An autosomal recessive primary immunologic disorder characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development. Caused by heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. (OMIM)" []
synonym: "IMD84" EXACT []
xref: MIM:619437
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2021-08-04T13:50:41Z

[Term]
id: DOID:9006188
name: Oro-Facial Gangrene
synonym: "Noma neonatorum" EXACT []
synonym: "Oral gangrene" EXACT []
synonym: "Oro-facial noma" EXACT []
xref: MESH:C531760
xref: RDO:0000172
is_a: DOID:9672 ! noma

[Term]
id: DOID:9006189
name: Premenstrual Dysphoric Disorder
def: "A condition in which a woman suffers from severe depression, irritability, and tension before MENSTRUATION. Premenstrual dysphoric disorder (PMDD) may involve a wide range of physical or emotional symptoms, which are more severe and debilitating than those seen with premenstrual syndrome (PMS), and which include at least one mood-related symptom. Symptoms usually stop when, or shortly after, menstruation begins." [MESH:D065446]
synonym: "Premenstrual Dysphoric Syndrome" EXACT []
xref: MESH:D065446
xref: RDO:0015973
is_a: DOID:1596 ! depressive disorder
is_a: DOID:727 ! premenstrual tension

[Term]
id: DOID:9006190
name: Chronic Pancreatitis
alt_id: RDO:0003066
def: "INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." [MESH:D050500]
synonym: "chronic pancreatitis, susceptibility to" RELATED []
xref: EFO:0000342
xref: MESH:D050500
xref: NCI:C84637
is_a: DOID:4989 ! pancreatitis

[Term]
id: DOID:9006191
name: Hypoadiponectinemia
alt_id: MIM:612556
synonym: "Adiponectin deficiency" EXACT []
synonym: "ADPOD" EXACT []
xref: MESH:C567258
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9006192
name: Oocyte/Zygote/Embryo Maturation Arrest 9
synonym: "Oocyte Maturation Defect 9" EXACT []
synonym: "OOMD9" EXACT []
synonym: "OZEMA9" EXACT []
xref: MIM:619011
is_a: DOID:9007456 ! Female Infertility
created_by: mtutaj
creation_date: 2020-09-09T07:57:53Z

[Term]
id: DOID:9006193
name: Loeys-Dietz Syndrome, Type 1b
xref: MESH:C567181
is_a: DOID:0050466 ! Loeys-Dietz syndrome
is_a: DOID:14004 ! thoracic aortic aneurysm

[Term]
id: DOID:9006194
name: Complement Component C1s Deficiency
alt_id: MIM:613783
synonym: "C1SD" EXACT []
synonym: "C1s Deficiency" EXACT []
synonym: "COMPLEMENT 1S DEFICIENCY" EXACT []
xref: MESH:C565170
xref: RDO:0013893
is_a: DOID:9005411 ! Complement Component C1r/C1s Deficiency

[Term]
id: DOID:9006195
name: Medullary Carcinomas
def: "A carcinoma composed mainly of epithelial elements with little or no stroma. Medullary carcinomas of the breast constitute 5%-7% of all mammary carcinomas; medullary carcinomas of the thyroid comprise 3%-10% of all thyroid malignancies. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1141; Segen, Dictionary of Modern Medicine, 1992)" [MESH:D018276]
synonym: "Medullary Carcinoma" EXACT []
xref: MESH:D018276
is_a: DOID:1800 ! neuroendocrine carcinoma
is_a: DOID:9008490 ! Ductal, Lobular, and Medullary Neoplasms

[Term]
id: DOID:9006196
name: Superior Transverse Scapular Ligament, Calcification Of, Familial
alt_id: MIM:601708
xref: MESH:C566638
is_a: DOID:573 ! nerve compression syndrome
is_a: DOID:9003295 ! Heterotopic Ossification

[Term]
id: DOID:9006197
name: Charcot Marie Tooth Type 1 Aplasia Cutis Congenita
alt_id: MIM:302803
alt_id: RDO:0004010
synonym: "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita" EXACT []
xref: MESH:C538077
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:9006199
name: Verloes Gillerot Fryns Syndrome
synonym: "Cerebro-Acro-Visceral Early lethality multiplex syndrome" EXACT []
xref: MESH:C536539
xref: RDO:0002152
is_a: DOID:10488 ! imperforate anus
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1923 ! disorder of sexual development
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006201
name: Retropneumoperitoneum
def: "Pathological or accidental introduction of air into the retroperitoneal space." [MESH:D012188]
synonym: "Pneumoretroperitoneum" EXACT []
xref: MESH:D012188
xref: RDO:0006485
is_a: DOID:9001600 ! Wounds and Injuries
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9006202
name: Pruritus
def: "An intense itching sensation that produces the urge to rub or scratch the skin to obtain relief." [MESH:D011537]
synonym: "Itching" EXACT []
synonym: "Pruritis" EXACT []
xref: MESH:D011537
is_a: DOID:37 ! skin disease
is_a: DOID:9007472 ! Skin Manifestations

[Term]
id: DOID:9006203
name: Manouvrier Syndrome
synonym: "Lung agenesis heart defect thumb anomalies" EXACT []
synonym: "Pulmonary aplasia and triphalangia of the thumb" EXACT []
xref: MESH:C535708
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9006204
name: Oocyte/Zygote/Embryo Maturation Arrest 19
def: "A oocyte/zygote/embryo maturation arrest caused by homozygous or compound heterozygous mutation in the NLRP5 gene on chromosome 19q13." []
synonym: "OZEMA19" EXACT []
xref: MIM:620333
is_a: DOID:9007456 ! Female Infertility
created_by: mtutaj
creation_date: 2023-04-18T09:37:07Z

[Term]
id: DOID:9006205
name: Animal Disease Models
def: "Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases." [MESH:D004195]
synonym: "Animal Disease Model" EXACT []
xref: MESH:D004195
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9006206
name: Sjogren-Larsson-like Syndrome
alt_id: MIM:270220
synonym: "Sjogren-Larsson-like ichthyosis without CNS or eye involvement" EXACT []
xref: MESH:C536668
is_a: DOID:14501 ! Sjogren-Larsson syndrome
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006207
name: Cerebral Phaeohyphomycosis
def: "CNS infections caused by neurotropic dematiaceous fungi that contain melanin in their cell walls. The infections often result in BRAIN ABSCESS; ENCEPHALITIS; and MENINGITIS in patients who are often immunocompetent. The common causative fungi include members Cladophialophora bantiana, Exophiala dermatitidis, Rhinocladiella mackenziei, and Ochroconis gallopavum. R. mackenziei infection is seen almost exclusively in patients from the MIDDLE EAST." [MESH:D060425]
synonym: "Central Nervous System Phaeohyphomycosis" EXACT []
synonym: "Cerebral Phaeohyphomycoses" EXACT []
synonym: "Primary Central Nervous System Phaeohyphomycosis" EXACT []
xref: MESH:D060425
is_a: DOID:14049 ! phaeohyphomycosis
is_a: DOID:9007316 ! Hyalohyphomycosis

[Term]
id: DOID:9006209
name: Atlanto-Axial Fusion
synonym: "Atlantoaxial Fusion" EXACT []
synonym: "Atlantoaxial joint fusion" EXACT []
xref: MESH:C538196
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9006210
name: Familial Convulsive Disorder with Prenatal or Early Onset
alt_id: MIM:217200
xref: MESH:C565678
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9007722 ! Myoclonus
is_a: DOID:9008941 ! Muscle Hypertonia

[Term]
id: DOID:9006211
name: NF1 Microduplication Syndrome
xref: MESH:C567173
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:8712 ! neurofibromatosis
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9006212
name: Midphalangeal Hair
synonym: "middigital hair" EXACT []
xref: MESH:C537471
xref: MIM:157200
is_a: DOID:420 ! hypertrichosis

[Term]
id: DOID:9006214
name: Sweating Sickness
def: "A clinical condition characterized by fever and profuse sweating and associated with high mortality. It occurred in epidemic form five times in the fifteenth and sixteenth centuries in England, first in 1485 and last in 1551, specially during the summer and early autumn, attacking the relatively affluent adult male population. The etiology was unknown." [MESH:D018614]
synonym: "English Sweating Sickness" EXACT []
synonym: "Sudor Anglicus" EXACT []
xref: MESH:D018614
is_a: DOID:9006865 ! Fever of Unknown Origin

[Term]
id: DOID:9006215
name: Exfoliative Dermatitis
def: "The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)" [MESH:D003873]
synonym: "Dermatitis Exfoliativa" EXACT []
synonym: "Erythroderma" EXACT []
synonym: "Erythrodermas" EXACT []
synonym: "Exfoliative Dermatitides" EXACT []
xref: EFO:0009456
xref: MESH:D003873
is_a: DOID:2723 ! dermatitis
is_a: DOID:9004383 ! Eczematous Skin Diseases

[Term]
id: DOID:9006216
name: Acid Phosphatase Deficiency
alt_id: MIM:200950
xref: MESH:C562645
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9006217
name: Collagenous Sprue
def: "A malabsorption syndrome characterized by collagenous mucosal lesions of the SMALL INTESTINE, atrophy of MICROVILLI, severe malabsorption, diarrhea, and MALNUTRITION often refractory to a gluten-free diet." [MESH:D064068]
synonym: "Collagenous Sprues" EXACT []
xref: MESH:D064068
xref: RDO:0015830
is_a: DOID:9002984 ! Malabsorption Syndromes

[Term]
id: DOID:9006218
name: Masked Hypertension
def: "Phenomenon where increased BLOOD PRESSURE readings taken in non-clinical settings (e.g., HOME BLOOD PRESSURE MONITORING) do not replicate in clinical settings." [MESH:D059468]
synonym: "Masked Hypertensions" EXACT []
xref: MESH:D059468
xref: RDO:0010021
is_a: DOID:10763 ! hypertension

[Term]
id: DOID:9006219
name: Avian Leukosis
def: "A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere." [MESH:D001353]
synonym: "Avian Leukoses" EXACT []
synonym: "AVL induced bursal lymphoma" NARROW []
xref: EFO:0005923
xref: MESH:D001353
is_a: DOID:9004441 ! Experimental Leukemia
is_a: DOID:9004886 ! Tumor Virus Infections
is_a: DOID:9006114 ! Bird Diseases
is_a: DOID:9006644 ! Retroviridae Infections

[Term]
id: DOID:9006220
name: Mirizzi Syndrome
def: "Complication of CHOLELITHIASIS characterized by OBSTRUCTIVE JAUNDICE; abdominal pain, and fever." [MESH:D057792]
synonym: "Mirizzi's Syndrome" EXACT []
synonym: "Mirizzis Syndrome" EXACT []
xref: MESH:D057792
is_a: DOID:13580 ! cholestasis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006221
name: smooth muscle hamartoma
def: "This neoplasm is a benign proliferation of mature smooth muscle. It can arise from the arrector pili muscle attached to hair follicles, the dartos muscle in the scrotum, the vascular smooth muscle, or the muscularis mammillae of the areolae. It is a sporadic condition that usually presents as a solitary lesion." [PMID:31424772]
synonym: "acquired smooth muscle hamartoma" NARROW []
synonym: "CONGENITAL SMOOTH MUSCLE HAMARTOMA" NARROW []
is_a: DOID:9007253 ! Hamartoma
created_by: slaulede
creation_date: 2022-04-22T12:34:01Z

[Term]
id: DOID:9006222
name: Short-Rib Thoracic Dysplasia 16 with or without Polydactyly
synonym: "SRTD16" EXACT []
xref: MIM:617102
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
created_by: rgd
creation_date: 2017-04-06T00:00:00Z

[Term]
id: DOID:9006223
name: Kidney Reperfusion Injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the kidney, including swelling; hemorrhage; necrosis; and damage from free radicals." []
synonym: "Kidney Ischemia-Reperfusion Injury" EXACT []
synonym: "Renal Ischemia-Reperfusion Injury" EXACT []
synonym: "Renal Reperfusion Injury" EXACT []
is_a: DOID:3021 ! acute kidney failure
is_a: DOID:9004009 ! Reperfusion Injury

[Term]
id: DOID:9006224
name: Reticular Erythrokeratoderma
synonym: "Aarau disease" EXACT []
synonym: "congenital reticular ichthyosiform erythroderma" EXACT []
synonym: "CRIE" EXACT []
synonym: "ichthyosis variegata micropinnae, alopecia universalis, congenital ichthyosis, and ectropion" EXACT []
synonym: "ichthyosis with confetti" EXACT []
synonym: "IWC" EXACT []
synonym: "MAUIE" EXACT []
synonym: "Mauie syndrome" EXACT []
xref: MESH:C563781
xref: MIM:609165
xref: MONDO:0012208
xref: ORDO:281190
is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis

[Term]
id: DOID:9006225
name: Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T-Helper Cells
alt_id: MIM:183350
xref: MESH:C566666
is_a: DOID:6376 ! hypersplenism
is_a: DOID:9002720 ! Splenomegaly

[Term]
id: DOID:9006226
name: Familial Dermatitis Herpetiformis
alt_id: MIM:601230
xref: MESH:C538218
is_a: DOID:8505 ! dermatitis herpetiformis

[Term]
id: DOID:9006227
name: Congenital Disorder of Glycosylation Type 1O
alt_id: MIM:612937
synonym: "CDG1(DPM3)" EXACT []
synonym: "CDG1o" EXACT []
synonym: "CDG Io" EXACT []
synonym: "CDGIo" EXACT []
synonym: "congenital disorder of glycosylation, type Io" EXACT []
synonym: "MDDGC15" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15" EXACT []
synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, DPM3-related" EXACT []
xref: MESH:C567857
is_a: DOID:0050570 ! congenital disorder of glycosylation type I
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy

[Term]
id: DOID:9006228
name: Hermansky-Pudlak Syndrome 10
def: "An autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures. (OMIM)" []
synonym: "AP3D1-RELATED CONDITION" EXACT []
synonym: "HPS10" EXACT []
xref: MIM:617050
is_a: DOID:3753 ! Hermansky-Pudlak syndrome
created_by: rgd
creation_date: 2017-04-26T00:00:00Z

[Term]
id: DOID:9006229
name: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
def: "This disease is an autosomal recessive systemic disorder characterized by progressive muscle weakness, sensorineural hearing loss, and endocrine abnormalities, mainly primary amenorrhea due to ovarian insufficiency." [MIM:619518]
synonym: "MDHLO" EXACT []
xref: MIM:619518
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:5426 ! primary ovarian insufficiency
is_a: DOID:9884 ! muscular dystrophy
created_by: slaulede
creation_date: 2021-10-21T11:12:35Z

[Term]
id: DOID:9006230
name: Neurologic Gait Disorders
def: "Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect motor control, sensory feedback, and muscle strength including: CENTRAL NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or MUSCULAR DISEASES." [MESH:D020233]
synonym: "athetotic gait" EXACT []
synonym: "Broadened Gait" EXACT []
synonym: "Charcot's Gait" EXACT []
synonym: "Charcot Gait" EXACT []
synonym: "Charcot Gaits" EXACT []
synonym: "Charcots Gait" EXACT []
synonym: "Drop Foot Gait" EXACT []
synonym: "Duck Gait" EXACT []
synonym: "Festinating Gait" EXACT []
synonym: "Frontal Gait" EXACT []
synonym: "Hemiplegic Gait" EXACT []
synonym: "Hysterical Gait" EXACT []
synonym: "Marche a Petit Pas" EXACT []
synonym: "Neurologic Ambulation Disorder" EXACT []
synonym: "Neurologic Ambulation Disorders" EXACT []
synonym: "Neurologic Gait Disorder" EXACT []
synonym: "Neurologic Gait Dysfunction" EXACT []
synonym: "Neurologic Gait Dysfunctions" EXACT []
synonym: "Neurologic Locomotion Disorder" EXACT []
synonym: "Neurologic Locomotion Disorders" EXACT []
synonym: "Rapid Fatigue of Gait" EXACT []
synonym: "Reeling Gait" EXACT []
synonym: "Rigid Gait" EXACT []
synonym: "Scissors Gait" EXACT []
synonym: "Sensorimotor Gait Disorder" EXACT []
synonym: "Sensorimotor Gait Disorders" EXACT []
synonym: "Shuffling Gait" EXACT []
synonym: "Shuffling Gaits" EXACT []
synonym: "Spastic Gait" EXACT []
synonym: "Stumbling Gait" EXACT []
synonym: "Unsteady Gait" EXACT []
synonym: "widebased gait" EXACT []
xref: MESH:D020233
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9006231
name: Say Meyer Syndrome
alt_id: MIM:314320
synonym: "Trigonocephaly, short stature and developmental delay" EXACT []
synonym: "Trigonocephaly, short stature, and retarded psychomotor development" EXACT []
synonym: "Trigonocephaly with Short Stature and Developmental Delay" EXACT []
xref: MESH:C536620
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9006232
name: Grant Syndrome
alt_id: MIM:138930
xref: MESH:C537293
is_a: DOID:12347 ! osteogenesis imperfecta
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9006236
name: Harlequin Syndrome
synonym: "Sudden onset of unilateral flushing and sweating" EXACT []
synonym: "Unilateral loss of facial flushing and sweating with contralateral anhidrosis" EXACT []
xref: MESH:C535634
is_a: DOID:11155 ! hypohidrosis
is_a: DOID:11465 ! autonomic nervous system disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007763 ! Flushing

[Term]
id: DOID:9006237
name: Metabolically Benign Obesity
def: "A sub-PHENOTYPE of obese individuals who have a risk for CARDIOVASCULAR DISEASES between that of healthy individuals with normal weight and unhealthy individuals with obesity." [MESH:D000067329]
synonym: "Metabolically Healthy Obesity" EXACT []
xref: EFO:0009382
xref: MESH:D000067329
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9006238
name: Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy
def: "An autosomal recessive disorder characterized by severely impaired global development apparent soon after birth. Affected individuals develop seizures in the first year of life and achieve almost no psychomotor progress, resulting in feeding difficulties and an inability to walk or speak. Other features include hypotonia, peripheral spasticity with contractures, cortical visual impairment, and dysmorphic features, including microcephaly." [MIM:618741]
synonym: "NEDESBA" EXACT []
xref: MIM:618741
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007428 ! Muscle Spasticity
created_by: slaulede
creation_date: 2020-03-16T15:17:15Z

[Term]
id: DOID:9006239
name: Alkaptonuric Ochronosis
synonym: "Exogenous ochronosis" EXACT []
synonym: "Ocular ochronosis" EXACT []
synonym: "Pseudo-ochronosis" EXACT []
xref: MESH:C531762
is_a: DOID:14223 ! ochronosis
is_a: DOID:9270 ! alkaptonuria

[Term]
id: DOID:9006240
name: Permanent Neonatal Diabetes Mellitus 2
synonym: "DEND1" NARROW []
synonym: "DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 1" NARROW []
synonym: "PNDM2" EXACT []
xref: MIM:618856
is_a: DOID:0060639 ! permanent neonatal diabetes mellitus
created_by: mtutaj
creation_date: 2020-05-01T09:51:06Z

[Term]
id: DOID:9006241
name: Perniola Krajewska Carnevale Syndrome
synonym: "Congenital alopecia, psychomotor retardation, convulsions" EXACT []
synonym: "Neuroectodermosis with alopecia or hypotrichosis" EXACT []
xref: MESH:C536660
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9006242
name: Lattice Corneal Dystrophy, Type IIIA
alt_id: MIM:608471
synonym: "CDL3A" EXACT []
synonym: "lattice corneal dystrophy type 3A" EXACT []
xref: MESH:C563923
is_a: DOID:8943 ! lattice corneal dystrophy

[Term]
id: DOID:9006243
name: Congenital Adrenal Hypoplasia with Absent Pituitary Luteinizing Hormone
alt_id: MIM:202150
xref: MESH:C565976
is_a: DOID:0050811 ! congenital adrenal hyperplasia
is_a: DOID:9008622 ! Adrenal Insufficiency

[Term]
id: DOID:9006244
name: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY
def: "This disease is an autosomal dominant disorder characterized by spastic paraparesis and bilateral congenital/juvenile cataracts." [MIM:619338]
synonym: "CSPSD" EXACT []
synonym: "FAR1-RELATED NEURODEVELOPMENTAL DISORDER" BROAD []
xref: MIM:619338
is_a: DOID:83 ! cataract
is_a: DOID:9002598 ! Spastic Paraparesis
is_a: DOID:9005466 ! Language Development Disorders
created_by: slaulede
creation_date: 2021-06-10T12:43:47Z

[Term]
id: DOID:9006245
name: Pavone Fiumara Rizzo Syndrome
synonym: "Syndactyly type 1 with cataracts and mental retardation" EXACT []
xref: MESH:C536313
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract

[Term]
id: DOID:9006246
name: Chromosome 3, Monosomy 3p14 p11
synonym: "Deletion 3p14 p11" EXACT []
synonym: "Monosomy 3p14 p11" EXACT []
xref: MESH:C536805
xref: RDO:0002497
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9006247
name: Aortic Arch Anomaly with Peculiar Facies and Mental Retardation
alt_id: MIM:107500
xref: MESH:C537785
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9006248
name: Adrenomyodystrophy
alt_id: MIM:300270
xref: MESH:C538051
is_a: DOID:9008622 ! Adrenal Insufficiency

[Term]
id: DOID:9006249
name: RADIO-TARTAGLIA SYNDROME
def: "This disease is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, hypotonia, mild motor difficulties, and craniofacial dysmorphism." [MIM:619312]
synonym: "RATARS" EXACT []
xref: MIM:619312
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008582 ! Developmental Disease
created_by: slaulede
creation_date: 2021-06-22T11:05:08Z

[Term]
id: DOID:9006250
name: Hyperpigmentation of Fuldauer and Kuijpers
alt_id: MIM:145200
xref: MESH:C564164
is_a: DOID:9003984 ! Hyperpigmentation

[Term]
id: DOID:9006251
name: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1
def: "Thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm. (OMIM)" []
synonym: "RUSAT1" EXACT []
xref: MIM:605432
is_a: DOID:9002496 ! Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
created_by: mtutaj
creation_date: 2019-03-19T00:00:00Z

[Term]
id: DOID:9006252
name: Elbow Tendinopathy
def: "Inflammation (tendinitis) or degeneration (tendinosis) of the tendons of the elbow." [MESH:D000070639]
synonym: "Elbow Tendinopathies" EXACT []
xref: MESH:D000070639
is_a: DOID:971 ! tendinitis

[Term]
id: DOID:9006253
name: Ketosis
def: "A condition characterized by an abnormally elevated concentration of KETONE BODIES in the blood (acetonemia) or urine (acetonuria). It is a sign of DIABETES COMPLICATION, starvation, alcoholism or a mitochondrial metabolic disturbance (e.g., MAPLE SYRUP URINE DISEASE)." [MESH:D007662]
synonym: "Acetonemia" EXACT []
synonym: "Acetonemias" EXACT []
synonym: "Acetonuria" EXACT []
synonym: "Acetonurias" EXACT []
synonym: "Ketoacidemia" EXACT []
synonym: "Ketoacidemias" EXACT []
synonym: "Ketoacidoses" EXACT []
synonym: "Ketoacidosis" EXACT []
synonym: "Ketoaciduria" EXACT []
synonym: "Ketoacidurias" EXACT []
synonym: "Ketonemia" EXACT []
synonym: "Ketonemias" EXACT []
synonym: "Ketonuria" EXACT []
synonym: "Ketonurias" EXACT []
synonym: "Metabolic Ketoacidoses" EXACT []
synonym: "Metabolic Ketoacidosis" EXACT []
synonym: "Metabolic Ketoses" EXACT []
synonym: "Metabolic Ketosis" EXACT []
xref: MESH:D007662
xref: RDO:0005934
is_a: DOID:9002802 ! Acidoses

[Term]
id: DOID:9006254
name: Microcephaly Albinism Digital Anomalies Syndrome
alt_id: MIM:203340
xref: MESH:C537322
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9001386 ! Albinism
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9006255
name: Sacroiliac Arthritis
alt_id: MIM:108100
xref: MESH:C563037
is_a: DOID:848 ! arthritis

[Term]
id: DOID:9006256
name: Chromosome 6, Trisomy 6p
synonym: "Duplication 6p" EXACT []
synonym: "Trisomy 6p" EXACT []
xref: MESH:C537811
xref: RDO:0003715
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9006257
name: Growth Disorders
def: "Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth." [MESH:D006130]
synonym: "Growth Disorder" EXACT []
synonym: "growth retardation" NARROW []
synonym: "retardation of growth" NARROW []
synonym: "Stunted Growth" EXACT []
synonym: "Stunting" EXACT []
xref: MESH:D006130
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9006258
name: Ocular Myopathy with Curare Sensitivity
alt_id: MIM:257600
xref: MESH:C564937
is_a: DOID:539 ! ophthalmoplegia

[Term]
id: DOID:9006259
name: Nonspherocytic Hemolytic Anemia, possibly due to Defect in Porphyrin Metabolism
alt_id: MIM:206400
xref: MESH:C565952
is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia

[Term]
id: DOID:9006261
name: Distal Trisomy 10q Syndrome
synonym: "Chromosome 10, distal trisomy 10q" EXACT []
synonym: "Chromosome 10, Partial Trisomy 10q24-qter" EXACT []
synonym: "Chromosome 10, Trisomy 10q2" EXACT []
synonym: "Distal Duplication 10q" EXACT []
xref: MESH:C538087
xref: RDO:0004021
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9006262
name: Cytomegalovirus Infections
def: "Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults." [MESH:D003586]
synonym: "Cytomegalic Inclusion Disease" EXACT []
synonym: "Cytomegalic Inclusion Diseases" EXACT []
synonym: "Cytomegalovirus Infection" EXACT []
synonym: "Inclusion Disease" EXACT []
synonym: "Inclusion Diseases" EXACT []
synonym: "Salivary Gland Virus Disease" EXACT []
xref: EFO:0001062
xref: MESH:D003586
is_a: DOID:9002834 ! Herpesviridae Infections

[Term]
id: DOID:9006263
name: Experimental Pancreatitis
def: "Inflammation of the pancreas induced experimentally in laboratory animals." []
is_a: DOID:4989 ! pancreatitis
is_a: DOID:9006205 ! Animal Disease Models

[Term]
id: DOID:9006264
name: Beck-Fahrner Syndrome
def: "A developmental disorder characterized by global developmental delay with variably impaired intellectual development." []
synonym: "BEFAHRS" EXACT []
synonym: "TET3 DEFICIENCY" EXACT []
synonym: "TET3-RELATED CONDITION" EXACT []
xref: MIM:618798
is_a: DOID:225 ! syndrome
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2020-06-15T15:55:10Z

[Term]
id: DOID:9006265
name: Spinal Tuberculoses
def: "Osteitis or caries of the vertebrae, usually occurring as a complication of tuberculosis of the lungs." [MESH:D014399]
synonym: "Pott's Disease" EXACT []
synonym: "Pott's Paraplegia" EXACT []
synonym: "Pott Disease" EXACT []
synonym: "Potts Disease" EXACT []
synonym: "Spinal Tuberculosis" EXACT []
xref: MESH:D014399
is_a: DOID:1639 ! skeletal tuberculosis
is_a: DOID:6590 ! spondylitis

[Term]
id: DOID:9006266
name: Mink Viral Enteritis
def: "A highly contagious parvovirus infection in mink, caused by MINK ENTERITIS VIRUS or the closely related FELINE PANLEUKOPENIA VIRUS or CANINE PARVOVIRUS. Transmission usually occurs by the fecal/oral route." [MESH:D053489]
synonym: "Enteritis, Infectious, of Mink" EXACT []
synonym: "Mink Viral Enteritides" EXACT []
xref: MESH:D053489
is_a: DOID:9000331 ! Parvoviridae Infections
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9006268
name: Iliac Aneurysm
def: "Abnormal balloon- or sac-like dilatation in the wall of any one of the iliac arteries including the common, the internal, or the external ILIAC ARTERY." [MESH:D017543]
synonym: "Iliac Aneurysms" EXACT []
xref: MESH:D017543
is_a: DOID:9001665 ! Aneurysm

[Term]
id: DOID:9006269
name: Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone
alt_id: MIM:223500
xref: MESH:C565615
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9006270
name: Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects
def: "A disease characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic facial features, and variable skeletal abnormalities. Caused by heterozygous mutation in the HNRNPH1 gene on chromosome 5q35." [MIM:620083]
synonym: "NEDCDS" EXACT []
xref: MIM:620083
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2022-10-24T08:15:04Z

[Term]
id: DOID:9006272
name: Microcephaly, Short Stature, and Impaired Glucose Metabolism 2
synonym: "MSSGM2" EXACT []
xref: MIM:616817
is_a: DOID:9008578 ! Microcephaly, Short Stature, and Impaired Glucose Metabolism

[Term]
id: DOID:9006273
name: Pseudoxanthoma Elasticum, Heterozygous
xref: MESH:C566744
xref: RDO:0015011
is_a: DOID:2738 ! pseudoxanthoma elasticum

[Term]
id: DOID:9006274
name: UV-Sensitive Syndrome 1
alt_id: RDO:0008765
synonym: "UVSS1" EXACT []
xref: MIM:600630
xref: NCI:C173106
is_a: DOID:0060240 ! UV-sensitive syndrome

[Term]
id: DOID:9006275
name: Adams-Oliver Syndrome 3
synonym: "AOS3" EXACT []
xref: MIM:614814
is_a: DOID:0060227 ! Adams-Oliver syndrome

[Term]
id: DOID:9006276
name: Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency
xref: MIM:235700
is_a: DOID:583 ! hemolytic anemia
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9006277
name: COACH Syndrome 2
synonym: "COACH2" EXACT []
xref: MIM:619111
is_a: DOID:0111589 ! COACH syndrome
created_by: mtutaj
creation_date: 2020-12-02T10:48:46Z

[Term]
id: DOID:9006278
name: Bethlem Myopathy 2
alt_id: RDO:9001375
synonym: "BTHLM2" EXACT []
synonym: "COL12A1-RELATED CONDITION" BROAD []
synonym: "EDS, MYOPATHIC TYPE" EXACT []
synonym: "EDSMYP" EXACT []
synonym: "EHLERS-DANLOS SYNDROME, MYOPATHIC TYPE" EXACT []
xref: MIM:616471
is_a: DOID:0050663 ! Bethlem myopathy
created_by: rgd
creation_date: 2017-02-24T00:00:00Z

[Term]
id: DOID:9006279
name: Mental Retardation, Buenos Aires Type
alt_id: MIM:249630
synonym: "Mutchinick Syndrome" EXACT []
xref: MESH:C563095
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9006280
name: Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies
alt_id: MIM:611555
synonym: "RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DISTINCTIVE FACIES" EXACT []
xref: MESH:C566918
is_a: DOID:12679 ! nephrocalcinosis
is_a: DOID:150 ! disease of mental health
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007406 ! Distal Renal Tubular Acidosis

[Term]
id: DOID:9006281
name: Temporomandibular Joint Disorders
def: "A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia. (From Thoma's Oral Pathology, 6th ed, pp577-600)" [MESH:D013705]
synonym: "Temporomandibular Disorder" EXACT []
synonym: "Temporomandibular Disorders" EXACT []
synonym: "Temporomandibular Joint Disease" EXACT []
synonym: "Temporomandibular Joint Diseases" EXACT []
synonym: "Temporomandibular Joint Disorder" EXACT []
synonym: "TMJ Disease" EXACT []
synonym: "TMJ Diseases" EXACT []
synonym: "TMJ Disorder" EXACT []
synonym: "TMJ Disorders" EXACT []
xref: EFO:0005279
xref: MESH:D013705
xref: RDO:0002690
is_a: DOID:381 ! arthropathy
is_a: DOID:9001349 ! Stomatognathic Diseases
is_a: DOID:9006105 ! Craniomandibular Disorders

[Term]
id: DOID:9006282
name: Onychotrichodysplasia and Neutropenia
alt_id: MIM:258360
synonym: "Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome" EXACT []
xref: MESH:C537752
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1227 ! neutropenia
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9006283
name: Syndromic Oculocutaneous Albinism
is_a: DOID:0050632 ! oculocutaneous albinism
created_by: mtutaj
creation_date: 2020-04-22T15:14:18Z

[Term]
id: DOID:9006284
name: Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response
alt_id: MIM:300184
synonym: "Hypotonia, Congenital Nystagmus, Ataxia, And Abnormal Auditory Brainstem Responses" EXACT []
xref: MESH:C537159
is_a: DOID:3213 ! demyelinating disease
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:9006285
name: Epidermal Hyperplasia
def: "An increase in the number of cells in the epidermis without tumor formation." []
xref: RDO:9000110
is_a: DOID:9002221 ! Hyperplasia

[Term]
id: DOID:9006286
name: Congenital Muscular Dystrophy, Davignon-Chauveau Type
synonym: "Davignon-Chauveau type of congenital muscular dystrophy" EXACT []
synonym: "MDCDC" EXACT []
synonym: "TRIP4-RELATED CONDITION" BROAD []
xref: MIM:617066
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:11724 ! limb-girdle muscular dystrophy

[Term]
id: DOID:9006287
name: Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy
alt_id: MIM:250450
xref: MESH:C565395
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9005850 ! Hereditary Optic Atrophies
is_a: DOID:9006392 ! Anetoderma

[Term]
id: DOID:9006288
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
def: "This disease is a neurodevelopmental disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Most patients also show movement abnormalities, often hypotonia early in the disease course with later development of dopa-responsive dystonia or parkinsonism" [MIM:619911]
synonym: "IDLDP" EXACT []
xref: MIM:619911
is_a: DOID:0060894 ! early-onset Parkinson's disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9005466 ! Language Development Disorders
created_by: slaulede
creation_date: 2022-12-09T15:10:20Z

[Term]
id: DOID:9006289
name: Myopia 2
alt_id: MIM:160700
synonym: "MYOPIA 2, AUTOSOMAL DOMINANT" EXACT []
synonym: "MYP2" EXACT []
xref: MESH:C563541
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9006290
name: Central Nervous System Venous Angioma
def: "A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding." [MESH:D020787]
synonym: "Cerebral Venous Angioma" EXACT []
synonym: "Cerebral Venous Angiomas" EXACT []
synonym: "Intracranial Venous Angioma" EXACT []
synonym: "Intracranial Venous Angiomas" EXACT []
xref: EFO:1001774
xref: MESH:D020787
xref: RDO:0007430
is_a: DOID:255 ! hemangioma
is_a: DOID:9003443 ! Central Nervous System Vascular Malformations

[Term]
id: DOID:9006291
name: Fat Embolism
def: "Blocking of a blood vessel by fat deposits in the circulation. It is often seen after fractures of large bones or after administration of CORTICOSTEROIDS." [MESH:D004620]
synonym: "Fat Embolisms" EXACT []
synonym: "Fat Embolism Syndrome" EXACT []
xref: MESH:D004620
is_a: DOID:9002522 ! Embolism

[Term]
id: DOID:9006292
name: Cerebellar Granule Cell Hypertrophy and Megalencephaly
alt_id: RDO:0012790
xref: MESH:C563565
is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome
is_a: DOID:9005611 ! Malformations of Cortical Development, Group I

[Term]
id: DOID:9006293
name: Leukemia, Radiation-Induced
def: "Leukemia produced by exposure to IONIZING RADIATION or NON-IONIZING RADIATION." [MESH:D007953]
synonym: "Radiation-Induced Leukemias" EXACT []
xref: MESH:D007953
is_a: DOID:1240 ! leukemia
is_a: DOID:9000111 ! Radiation Injuries
is_a: DOID:9000277 ! Radiation-Induced Neoplasms

[Term]
id: DOID:9006294
name: Congenital Limb Deformities
def: "Congenital structural deformities of the upper and lower extremities collectively or unspecified." [MESH:D017880]
synonym: "ABNORMAL RADIAL RAY MORPHOLOGY" NARROW []
synonym: "Congenital Limb Deformity" EXACT []
synonym: "Congenital limb malformation" EXACT []
xref: MESH:D017880
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9006295
name: HEART AND BRAIN MALFORMATION SYNDROME
synonym: "HBMS" EXACT []
synonym: "NEDHBM" EXACT []
synonym: "NEURODEVELOPMENTAL DISORDER WITH HEART AND BRAIN MALFORMATIONS" EXACT []
xref: MIM:616920
is_a: DOID:10629 ! microphthalmia
is_a: DOID:1681 ! heart septal defect
is_a: DOID:225 ! syndrome
is_a: DOID:9006534 ! Nervous System Malformations
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9006296
name: Lofgren’s syndrome
def: "This disease is an acute form of sarcoidosis characterized by erythema nodosum, bilateral hilar lymphadenopathy and polyarthralgia or polyarthritis." [EFO:0009466]
synonym: "Bilateral hilar lymph node sarcoidosis with erythema nodosum" EXACT []
synonym: "Erythema nodosum with bilateral hilar lymph node sarcoidosis" EXACT []
synonym: "Loefgren’s syndrome" EXACT []
synonym: "Lofgrens syndrome" EXACT []
synonym: "LS" EXACT []
synonym: "Löfgren’s syndrome" EXACT []
xref: EFO:0009466
is_a: DOID:0080750 ! erythema nodosum
is_a: DOID:13406 ! pulmonary sarcoidosis
is_a: DOID:381 ! arthropathy
is_a: DOID:9004150 ! Lymphadenopathy
created_by: slaulede
creation_date: 2023-01-05T11:12:47Z

[Term]
id: DOID:9006297
name: Hydatidiform Mole, Recurrent, 2
synonym: "complete hydatidiform mole" BROAD []
synonym: "HYDM2" EXACT []
xref: MIM:614293
is_a: DOID:9005147 ! Hydatidiform Mole

[Term]
id: DOID:9006298
name: Stankiewicz-Isidor Syndrome
def: "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems." [MIM:617516]
synonym: "STISS" EXACT []
xref: MIM:617516
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: rgd
creation_date: 2017-07-12T00:00:00Z

[Term]
id: DOID:9006299
name: Mental Retardation, Autosomal Recessive 42
synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9" EXACT []
synonym: "GPIBD9" EXACT []
synonym: "MRT42" EXACT []
synonym: "NEDDSBA" EXACT []
synonym: "neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities" EXACT []
xref: MIM:615802
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency

[Term]
id: DOID:9006300
name: Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts
alt_id: MIM:120040
synonym: "Cochleosaccular Degeneration" EXACT []
synonym: "Cochleosaccular Degeneration of the Inner Ear with Progressive Cataracts" EXACT []
xref: MESH:C536432
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:83 ! cataract

[Term]
id: DOID:9006301
name: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS
def: "This is a primarily fibrotic disease affecting the liver, kidney, and heart. Affected individuals develop degenerative hepatic fibrosis in childhood or early adulthood, with later onset of fibrocystic kidney disease and hypertrophic cardiomyopathy." [MIM:619902]
synonym: "HRCDF" EXACT []
xref: MIM:619902
is_a: DOID:0050855 ! renal fibrosis
is_a: DOID:5082 ! liver cirrhosis
is_a: DOID:9003139 ! Cardiac Fibrosis
created_by: slaulede
creation_date: 2022-07-29T11:17:37Z

[Term]
id: DOID:9006302
name: Binge Drinking
def: "Drinking an excessive amount of ALCOHOLIC BEVERAGES in a short period of time." [MESH:D063425]
xref: MESH:D063425
xref: RDO:0012117
is_a: DOID:9004354 ! Alcohol-Related Disorders

[Term]
id: DOID:9006303
name: Familial Hyperaldosteronism, Type II
alt_id: MIM:605635
synonym: "FH II" EXACT []
synonym: "HALD2" EXACT []
xref: MESH:C565312
is_a: DOID:446 ! primary hyperaldosteronism

[Term]
id: DOID:9006304
name: Cutaneous Hyperthermia with Headaches and Nausea
alt_id: MIM:145590
synonym: "Farmer Syndrome" EXACT []
xref: MESH:C564156
is_a: DOID:9000053 ! Headache
is_a: DOID:9004751 ! Nausea
is_a: DOID:9006865 ! Fever of Unknown Origin

[Term]
id: DOID:9006305
name: Tetraphocomelia-Thrombocytopenia Syndrome
xref: MESH:C564771
xref: RDO:0013623
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:225 ! syndrome
is_a: DOID:9000545 ! Ectromelia

[Term]
id: DOID:9006306
name: Apical Hypertrophic Cardiomyopathy
def: "A hypertrophic cardiomyopathy characterized by apical hypertrophy, typically LEFT VENTRICULAR HYPERTROPHY (described as \"ace of spades\" sign), and deep T-wave inversions in EKG. Clinical symptoms include minor symptoms such as CHEST PAIN; DYSPNEA; and SYNCOPE to more complex symptoms such as ATRIAL FIBRILLATION; VENTRICULAR FIBRILLATION; MYOCARDIAL INFARCTION and CONGESTIVE HEART FAILURE. A transient left ventricular apical hypertrophy is sometimes associated with TAKOTSUBO CARDIOMYOPATHY." []
synonym: "Apical Hypertrophic Cardiomyopathies" EXACT []
synonym: "Apical-Variant HCM" EXACT []
synonym: "Left Ventricular Apical Hypertrophic Cardiomyopathy" EXACT []
xref: MESH:D000092183
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy
created_by: mtutaj
creation_date: 2022-12-12T14:20:05Z

[Term]
id: DOID:9006307
name: Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas
alt_id: MIM:127820
synonym: "Maroteaux-Le Merrer-Bensahel syndrome" EXACT []
synonym: "Osteochondromatosis, Dominant Carpotarsal" EXACT []
xref: GARD:1128
xref: MESH:C565076
xref: MONDO:0007490
xref: ORDO:2767
is_a: DOID:206 ! hereditary multiple exostoses
is_a: DOID:9007526 ! Dysplasia Epiphysealis Hemimelica

[Term]
id: DOID:9006308
name: Spinal Cord Vascular Diseases
def: "Pathological processes involving any of the BLOOD VESSELS feeding the SPINAL CORD, such as the anterior and paired posterior spinal arteries or their many branches. Disease processes may include ATHEROSCLEROSIS; EMBOLISM; and ARTERIOVENOUS MALFORMATIONS leading to ISCHEMIA or HEMORRHAGE into the spinal cord (hematomyelia)." [MESH:D020758]
synonym: "Hematomyelia" EXACT []
synonym: "Hematomyelias" EXACT []
synonym: "Posterior Spinal Artery Syndrome" EXACT []
xref: MESH:D020758
xref: RDO:0007424
is_a: DOID:178 ! vascular disease
is_a: DOID:319 ! spinal cord disease

[Term]
id: DOID:9006309
name: Mandibular Diseases
def: "Diseases involving the MANDIBLE." [MESH:D008336]
synonym: "Mandibular Disease" EXACT []
xref: MESH:D008336
is_a: DOID:9003876 ! Jaw Diseases

[Term]
id: DOID:9006310
name: Atrial Septal Defect Ostium Primum
xref: MESH:C548006
is_a: DOID:1882 ! atrial heart septal defect

[Term]
id: DOID:9006311
name: Lipoblastoma
def: "Benign tumors of fatty tissues found in infancy and childhood. It is associated chromosomal aberrations that result in activation of an oncogene on chromosome band 8q12." [MESH:D062689]
synonym: "Lipoblastomas" EXACT []
synonym: "Lipoblastomatoses" EXACT []
synonym: "Lipoblastomatosis" EXACT []
xref: MESH:D062689
xref: RDO:0012106
is_a: DOID:3315 ! lipoma

[Term]
id: DOID:9006312
name: Goniodysgenesis-Mental Retardation-Short Stature Syndrome
alt_id: MIM:138770
synonym: "GMS Syndrome" EXACT []
xref: MESH:C564214
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9006314
name: Bent Bone Dysplasia Syndrome
synonym: "BBDS" EXACT []
synonym: "Bent Bone Dysplasia" EXACT []
synonym: "familial bent bone dysplasia syndrome" RELATED []
xref: MIM:PS614592
xref: MONDO:0031615
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
created_by: mtutaj
creation_date: 2022-10-17T08:03:21Z

[Term]
id: DOID:9006315
name: Stupor
def: "A state of reduced sensibility and response to stimuli which is distinguished from COMA in that the person can be aroused by vigorous and repeated stimulation. The person is still conscious and can make voluntary movements. It can be induced by CENTRAL NERVOUS SYSTEM AGENTS. The word derives from Latin stupere and is related to stunned, stupid, dazed or LETHARGY." [MESH:D053608]
synonym: "Narcosis" EXACT []
xref: MESH:D053608
is_a: DOID:9007650 ! Unconsciousness

[Term]
id: DOID:9006316
name: Spinocerebellar Ataxia 27A
synonym: "SCA27A" EXACT []
synonym: "spinocerebellar ataxia type 27A" EXACT []
xref: MIM:193003
is_a: DOID:0050976 ! spinocerebellar ataxia type 27
created_by: mtutaj
creation_date: 2023-01-04T13:28:31Z

[Term]
id: DOID:9006317
name: Dykes Markes Harper Syndrome
alt_id: MIM:242520
synonym: "Ichthyosis, hepatosplenomegaly, and cerebellar degeneration" EXACT []
synonym: "Ichthyosis hepatosplenomegaly cerebellar degeneration" EXACT []
xref: MESH:C535727
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:9002720 ! Splenomegaly
is_a: DOID:9005369 ! Hepatomegaly

[Term]
id: DOID:9006318
name: Hereditary Nonpolyposis Colorectal Cancer Type 3
alt_id: RDO:0013083
synonym: "HNPCC3" EXACT []
xref: MESH:C563972
is_a: DOID:3883 ! Lynch syndrome

[Term]
id: DOID:9006319
name: Swine Erysipelas
def: "An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa." [MESH:D013554]
xref: MESH:D013554
is_a: DOID:9006691 ! Erysipelothrix Infections
is_a: DOID:9008435 ! Swine Diseases

[Term]
id: DOID:9006320
name: Medial Medullary Syndrome
xref: MESH:C536134
xref: RDO:0001581
is_a: DOID:225 ! syndrome
is_a: DOID:3523 ! brain stem infarction

[Term]
id: DOID:9006323
name: Myopathy with Lactic Acidosis, Hereditary
alt_id: RDO:0013750
def: "Hereditary myopathy with lactic acidosis is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype. yopathy with lactic acidosis, also known as Swedish type myopathy with exercise intolerance, is caused by homozygous or compound heterozygous mutation in the ISCU gene, encoding the iron-sulfur cluster scaffold protein, on chromosome 12q24. (OMIM)" []
synonym: "HML" EXACT []
synonym: "Iron-Sulfur Cluster Deficiency Myopathy" EXACT []
synonym: "Myoglobinuria due to Abnormal Glycolysis" EXACT []
synonym: "Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme" EXACT []
synonym: "Myopathy with Deficiency of ISCU" EXACT []
synonym: "Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase" EXACT []
synonym: "Myopathy with Exercise Intolerance, Swedish Type" EXACT []
xref: MESH:C564972
xref: MIM:255125
is_a: DOID:0080000 ! muscular disease
is_a: DOID:3650 ! lactic acidosis

[Term]
id: DOID:9006324
name: Isolated Growth Hormone Deficiency, Partial
alt_id: MIM:615925
synonym: "GHDP" EXACT []
synonym: "short stature due to growth hormone secretagogue receptor deficiency" EXACT []
is_a: DOID:0060870 ! isolated growth hormone deficiency
created_by: slaulede
creation_date: 2020-01-17T12:59:02Z

[Term]
id: DOID:9006325
name: Ventral Hernia
def: "A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias." [MESH:D006555]
synonym: "Ventral Hernias" EXACT []
xref: MESH:D006555
is_a: DOID:9004681 ! Abdominal Hernia

[Term]
id: DOID:9006327
name: Bone Marrow Failure Syndrome 4
def: "Autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. (OMIM)" []
synonym: "BMFS4" EXACT []
synonym: "MYSM1-RELATED CONDITION" EXACT []
xref: MIM:618116
is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes
created_by: mtutaj
creation_date: 2019-03-15T00:00:00Z

[Term]
id: DOID:9006328
name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
def: "This disease is an X-linked recessive disorder with onset of symptoms in infancy or early childhood. Affected individuals present with highly variable symptoms. Laboratory studies are consistent with immune dysregulation, including altered B-cell subsets and variably elevated proinflammatory cytokines. Detailed functional studies of platelets, red cells, and T lymphocytes suggest that abnormal actin cytoskeleton remodeling is a basic defect, indicating that this disorder can be classified as an immune-related actinopathy." [MIM:301109]
synonym: "ADMIDX" EXACT []
synonym: "DOCK11 DEFICIENCY" EXACT []
synonym: "INBORN ERROR OF HEMATOPOIESIS AND IMMUNITY WITH SYSTEMIC INFLAMMATION AND NORMOCYTIC ANEMIA" EXACT []
synonym: "X-linked multisystem autoinflammatory disease with immune dysregulation" EXACT []
xref: MIM:301109
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: slaulede
creation_date: 2023-08-08T11:56:23Z

[Term]
id: DOID:9006329
name: Paralytic Ectropion
def: "Eversion of the EYELID caused by paralysis of the FACIAL NERVE or palsy from loss of MUSCLE TONUS of the orbicularis oculi." []
xref: MESH:C000721269
is_a: DOID:1570 ! ectropion
is_a: DOID:1756 ! facial nerve disease
created_by: mtutaj
creation_date: 2022-12-12T13:00:46Z

[Term]
id: DOID:9006331
name: Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities
def: "An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly." [MIM:619091]
synonym: "NEDMILG" EXACT []
synonym: "Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive" EXACT []
xref: MIM:619091
is_a: DOID:10907 ! microcephaly
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006230 ! Neurologic Gait Disorders
is_a: DOID:93 ! language disorder
created_by: slaulede
creation_date: 2021-01-18T13:30:30Z

[Term]
id: DOID:9006332
name: Vascular Calcification
def: "Deposition of calcium into the blood vessel structures. Excessive calcification of the vessels are associated with ATHEROSCLEROTIC PLAQUES formation particularly after MYOCARDIAL INFARCTION (see MONCKEBERG MEDIAL CALCIFIC SCLEROSIS) and chronic kidney diseases which in turn increase VASCULAR STIFFNESS." [MESH:D061205]
synonym: "Vascular Calcifications" EXACT []
synonym: "Vascular Calcinoses" EXACT []
synonym: "Vascular Calcinosis" EXACT []
xref: MESH:D061205
xref: RDO:0009968
is_a: DOID:182 ! calcinosis

[Term]
id: DOID:9006333
name: Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome
def: "An autosomal recessive multiorgan disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. Caused by homozygous mutation in the ITGA3 gene on chromosome 17q21." [MIM:614748]
synonym: "ILNEB" EXACT []
synonym: "interstitial lung disease, nephrotic syndrome, and congenital epidermolysis bullosa" EXACT []
synonym: "JEB7" EXACT []
xref: MIM:614748
is_a: DOID:1184 ! nephrotic syndrome
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:3209 ! junctional epidermolysis bullosa

[Term]
id: DOID:9006334
name: Wandering Spleen
def: "A congenital or acquired condition in which the SPLEEN is not in its normal anatomical position but moves about in the ABDOMEN. This is due to laxity or absence of suspensory ligaments which normally provide peritoneal attachments to keep the SPLEEN in a fixed position. Clinical symptoms include ABDOMINAL PAIN, splenic torsion and ISCHEMIA." [MESH:D050805]
synonym: "Displaced Spleen" EXACT []
synonym: "Displaced Spleens" EXACT []
synonym: "Drifting Spleen" EXACT []
synonym: "Drifting Spleens" EXACT []
synonym: "Floating Spleen" EXACT []
synonym: "Floating Spleens" EXACT []
synonym: "Splenic Ptoses" EXACT []
synonym: "Splenic Ptosis" EXACT []
synonym: "Splenoptoses" EXACT []
synonym: "Splenoptosis" EXACT []
synonym: "Wandering Spleens" EXACT []
xref: MESH:D050805
is_a: DOID:2529 ! splenic disease

[Term]
id: DOID:9006335
name: Thyrotropin-Releasing Hormone Deficiency
synonym: "HYPOTHALAMIC HYPOTHYROIDISM" EXACT []
synonym: "TRH DEFICIENCY" EXACT []
xref: MIM:275120
xref: RDO:0010111
is_a: DOID:1459 ! hypothyroidism
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9006336
name: Hemolytic Anemia with Thermal Sensitivity of Red Cells
alt_id: MIM:235370
xref: MESH:C565522
is_a: DOID:583 ! hemolytic anemia

[Term]
id: DOID:9006337
name: Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome
alt_id: MIM:612469
synonym: "Chromosome 11p13-P12 Deletion Syndrome" EXACT []
synonym: "WAGRO" EXACT []
synonym: "WAGRO Syndrome" EXACT []
synonym: "WAGR Syndrome With Obesity" EXACT []
xref: MESH:C567292
is_a: DOID:14515 ! WAGR syndrome
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9006338
name: Trigeminal Autonomic Cephalalgias
def: "Primary headache disorders that show symptoms caused by the activation of the AUTONOMIC NERVOUS SYSTEM of the TRIGEMINAL NERVE. These autonomic features include redness and tearing of the EYE, nasal congestion or discharge, facial SWEATING and other symptoms. Most subgroups show unilateral cranial PAIN." [MESH:D051303]
synonym: "Trigeminal Autonomic Cephalalgia" EXACT []
xref: MESH:D051303
xref: RDO:0005226
is_a: DOID:9001144 ! Primary Headache Disorders

[Term]
id: DOID:9006339
name: Mehta Lewis Patton Syndrome
synonym: "Congenital heart disease, ptosis, hypodontia, and craniosynostosis" EXACT []
xref: MESH:C536147
is_a: DOID:0060260 ! ptosis
is_a: DOID:13714 ! anodontia
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:9006340
name: Pheochromocytoma Islet Cell Tumor Syndrome
alt_id: MIM:171420
xref: MESH:C566807
is_a: DOID:0050771 ! pheochromocytoma
is_a: DOID:1793 ! pancreatic cancer
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006341
name: C1q Deficiency 2
def: "A C1q deficiency caused by homozygous mutation in the C1QB gene on chromosome 1p36." [MIM:620321]
synonym: "C1QD2" EXACT []
xref: MIM:620321
is_a: DOID:9007516 ! C1q Deficiency
created_by: mtutaj
creation_date: 2023-04-14T09:04:17Z

[Term]
id: DOID:9006342
name: Tessadori-van Haaften Neurodevelopmental Syndrome 4
def: "Characterized by global developmental delay with poor overall growth, variably impaired intellectual development, learning difficulties, distal skeletal anomalies, and dysmorphic facies. Caused by heterozygous mutation in the H4C9 gene on chromosome 6p21." [MIM:619951]
synonym: "TEVANED4" EXACT []
xref: MIM:619951
is_a: DOID:9008554 ! Tessadori-van Haaften Neurodevelopmental Syndrome
created_by: mtutaj
creation_date: 2022-07-18T10:53:08Z

[Term]
id: DOID:9006344
name: Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities
def: "Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) is characterized by global developmental delay apparent from infancy. The phenotype is highly variable: patients may have hypotonia, behavioral abnormalities, and abnormalities on brain imaging, including enlarged ventricles, thin corpus callosum, and sometimes small brainstem. Many develop seizures, sometimes refractory, and some may have nonspecific dysmorphic features. Intellectual impairment can vary from mild to profound, and some patients may benefit from special education and respond well to speech therapy. NEDLBA is caused by heterozygous mutation in the PPP2CA gene on chromosome 5q31. (OMIM)" []
synonym: "NEDLBA" EXACT []
xref: MIM:618354
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005466 ! Language Development Disorders
is_a: DOID:9006534 ! Nervous System Malformations
created_by: gthayman
creation_date: 2019-03-14T00:00:00Z

[Term]
id: DOID:9006345
name: Bovine Respiratory Disease Complex
def: "A multifactorial disease of CATTLE resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the IMMUNE SYSTEM and other host defenses and enhancing transmission of infecting agents." [MESH:D048090]
xref: EFO:0007180
xref: MESH:D048090
is_a: DOID:9004723 ! Cattle Diseases
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:9006346
name: Steatocystoma Multiplex with Natal Teeth
alt_id: MIM:184510
synonym: "Natal teeth and steatocystoma multiplex" EXACT []
xref: MESH:C537487
is_a: DOID:0111556 ! steatocystoma multiplex
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9006347
name: Skeletal Defects, Genital Hypoplasia, And Mental Retardation
alt_id: MIM:612447
synonym: "SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT" EXACT []
xref: MESH:C567306
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11383 ! cryptorchidism

[Term]
id: DOID:9006348
name: Total Anonychia with Microcephaly
alt_id: MIM:607214
xref: MESH:C564606
is_a: DOID:10907 ! microcephaly
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9006349
name: Fusobacteriaceae Infections
def: "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA." [MESH:D045825]
synonym: "Fusobacteriaceae Infection" EXACT []
synonym: "Fusobacteriaceae infectious disease" EXACT []
synonym: "primary Fusobacteriaceae infectious disease" EXACT []
xref: EFO:1001126
xref: MESH:D045825
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9006350
name: Baby Rattle Pelvic Dysplasia
xref: MESH:C537794
xref: RDO:0003698
is_a: DOID:4480 ! achondroplasia

[Term]
id: DOID:9006351
name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES
synonym: "NEDMIBA" EXACT []
xref: MIM:618492
is_a: DOID:10907 ! microcephaly
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2019-09-16T12:25:25Z

[Term]
id: DOID:9006352
name: Benign Familial Hematuria 1
def: "A benign familial hematuria caused by heterozygous mutation in the COL4A4 gene on chromosome 2q36." [MIM:141200]
synonym: "BFH1" EXACT []
synonym: "COL4A4-RELATED CONDITION" BROAD []
xref: MIM:141200
is_a: DOID:0111365 ! benign familial hematuria
created_by: mtutaj
creation_date: 2023-04-14T08:59:31Z

[Term]
id: DOID:9006353
name: Congenital Hypertrichosis Lanuginosa
alt_id: MIM:145700
synonym: "Hypertrichosis lanuginosa congenita" EXACT []
synonym: "Hypertrichosis lanuginosa universalis" EXACT []
synonym: "Hypertrichosis universalis" EXACT []
xref: MESH:C538389
xref: RDO:0004365
is_a: DOID:420 ! hypertrichosis

[Term]
id: DOID:9006354
name: Colon Inflammatory Polyp
def: "This is a non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." [NCI:C5517]
synonym: "colonic inflammatory polyp" EXACT []
xref: EFO:1000184
is_a: DOID:5353 ! colonic disease
is_a: DOID:9004271 ! Colonic Polyps
created_by: slaulede
creation_date: 2022-10-07T15:01:25Z

[Term]
id: DOID:9006356
name: Spinal Neoplasms
def: "New abnormal growth of tissue in the SPINE." [MESH:D013125]
synonym: "Spinal Neoplasm" EXACT []
xref: MESH:D013125
is_a: DOID:0060564 ! spinal disease
is_a: DOID:9004389 ! Bone Neoplasms

[Term]
id: DOID:9006357
name: UV-Sensitive Syndrome 3
alt_id: RDO:9000850
synonym: "UVSS3" EXACT []
xref: MIM:614640
xref: NCI:C173107
is_a: DOID:0060240 ! UV-sensitive syndrome

[Term]
id: DOID:9006358
name: Postoperative Cognitive Dysfunction
alt_id: DOID:9000228
def: "A short-term decline in cognitive function (especially in memory and thinking) that may last from a few days to a few weeks after major surgery." []
synonym: "Agitated Emergence" EXACT []
synonym: "Agitations, Emergence" EXACT []
synonym: "Anesthesia Emergence Delirium" EXACT []
synonym: "Emergence Agitation" EXACT []
synonym: "Emergence Delirium" EXACT []
synonym: "Emergence Excitement" EXACT []
synonym: "POCD" EXACT []
synonym: "Postanesthetic Excitement" EXACT []
synonym: "postoperative confusion" EXACT []
synonym: "Post-Operative Delirium" EXACT []
synonym: "postoperative delirium" EXACT []
xref: EFO:0009954
xref: MESH:D000071257
is_a: DOID:8645 ! subacute delirium
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9006359
name: Vitamin D Deficiency
def: "A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)" [MESH:D014808]
synonym: "Vitamin D Deficiencies" EXACT []
xref: EFO:0003762
xref: MESH:D014808
is_a: DOID:9004644 ! Avitaminosis

[Term]
id: DOID:9006360
name: Paragangliomas with Sensorineural Hearing Loss
synonym: "Paragangliomas 1, with or without deafness" EXACT []
synonym: "PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS" EXACT []
xref: MESH:C566831
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9002199 ! Paragangliomas 1

[Term]
id: DOID:9006361
name: Macrocephaly Mesodermal Hamartoma Spectrum
synonym: "Elattoproteus syndrome" EXACT []
synonym: "Hemihypertrophy and macrocephaly" EXACT []
synonym: "partial gigantism of hands and feet, nevi, hemihypertrophy, and macrocephaly" EXACT []
synonym: "partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly" EXACT []
xref: MESH:C537716
is_a: DOID:13482 ! Proteus syndrome

[Term]
id: DOID:9006362
name: C6 Deficiency, Subtotal
synonym: "Complement Component 6 Deficiency, Subtotal" EXACT []
xref: MESH:C567308
xref: RDO:0015417
is_a: DOID:9002174 ! Disease Susceptibility

[Term]
id: DOID:9006363
name: Congenital Thrombotic Disease, due to Protein C Deficiency
synonym: "hereditary thrombophilia, due to pc deficiency" EXACT []
synonym: "PROC deficiency" RELATED []
synonym: "REDUCED PROTEIN C ACTIVITY" RELATED []
xref: MESH:C535424
is_a: DOID:3756 ! protein C deficiency

[Term]
id: DOID:9006364
name: Hereditary Autoinflammatory Diseases
def: "Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES." [MESH:D056660]
synonym: "hereditary autoinflammation disease" EXACT []
synonym: "hereditary autoinflammation diseases" EXACT []
synonym: "hereditary autoinflammatory disease" EXACT []
synonym: "hereditary periodic fever syndromes" EXACT []
synonym: "hereditary recurrent fever" EXACT []
synonym: "hereditary recurrent fevers" EXACT []
synonym: "Reimann periodic disease" EXACT []
synonym: "Siegal Cattan Mamou disease" EXACT []
xref: MESH:D056660
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9006366
name: Cataract 50 with or without Glaucoma
def: "A pediatric or early-onset cataract, with more than half of affected individuals exhibiting high-tension glaucoma. Caused by heterozygous mutation in the TRPM3 gene on chromosome 9q21." [MIM:620253]
synonym: "CTRCT50" EXACT []
xref: MIM:620253
is_a: DOID:1686 ! glaucoma
is_a: DOID:83 ! cataract
created_by: mtutaj
creation_date: 2023-02-20T15:37:34Z

[Term]
id: DOID:9006367
name: Radial Defect Robin Sequence
synonym: "Bilateral radial defects, club foot deformity, micrognathia and cleft palate" EXACT []
synonym: "Bruce winship syndrome" EXACT []
xref: MESH:C536261
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9006368
name: Cutaneous Photosensitivity and Colitis, Lethal
alt_id: MIM:219095
synonym: "Early cutaneous photosensitivity and severe colitis" EXACT []
xref: MESH:C536224
is_a: DOID:0060180 ! colitis
is_a: DOID:3159 ! photosensitivity disease

[Term]
id: DOID:9006370
name: Spastic Paraplegia and Evans Syndrome
alt_id: MIM:601608
xref: MESH:C566652
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:225 ! syndrome
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:718 ! autoimmune hemolytic anemia

[Term]
id: DOID:9006371
name: Hidradenocarcinoma
def: "This is a carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." [NCI:C54664]
synonym: "clear cell eccrine carcinoma" EXACT []
xref: EFO:1000295
xref: MONDO:0006245
is_a: DOID:5667 ! sweat gland carcinoma
created_by: slaulede
creation_date: 2023-01-06T11:56:55Z

[Term]
id: DOID:9006372
name: Animal Helminthiasis
def: "Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary." [MESH:D006374]
synonym: "Animal Helminthiases" EXACT []
xref: MESH:D006374
is_a: DOID:883 ! parasitic helminthiasis infectious disease
is_a: DOID:9006645 ! Parasitic Diseases, Animal

[Term]
id: DOID:9006373
name: Hereditary Sensory and Autonomic Neuropathy, Adult-Onset, with Anosmia
alt_id: MIM:608720
xref: MESH:C563870
is_a: DOID:0050548 ! hereditary sensory neuropathy
is_a: DOID:9004147 ! Anosmia

[Term]
id: DOID:9006374
name: Postmortem Changes
def: "Physiological changes that occur in bodies after death." [MESH:D011180]
synonym: "Adipocere" EXACT []
synonym: "Algor Mortis" EXACT []
synonym: "Cruor" EXACT []
synonym: "Livor Mortis" EXACT []
synonym: "Postmortem Change" EXACT []
xref: MESH:D011180
is_a: DOID:9002290 ! Cadaver

[Term]
id: DOID:9006375
name: Amish Lethal Microcephaly
alt_id: MIM:607196
synonym: "Amish microcephaly" EXACT []
synonym: "MCPHA" EXACT []
synonym: "microcephaly, Amish type" EXACT []
synonym: "thiamine metabolism dysfunction syndrome 3 (microcephaly type)" EXACT []
synonym: "THMD3" EXACT []
xref: MESH:C538247
is_a: DOID:10907 ! microcephaly

[Term]
id: DOID:9006376
name: Cryofibrinogenemia
xref: MESH:C536218
is_a: DOID:2917 ! cryoglobulinemia

[Term]
id: DOID:9006377
name: Mosaic Variegated Aneuploidy Syndrome 5
def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay with learning difficulties and poor overall growth with short stature and microcephaly. Caused by homozygous or compound heterozygous mutation in the SLF2 gene on chromosome 10q24." [MIM:620184]
synonym: "Atelis syndrome 1" EXACT []
synonym: "ATELS1" EXACT []
synonym: "MVA5" EXACT []
synonym: "POOR GROWTH, MICROCEPHALY, DEVELOPMENTAL DELAY, AND ANEMIA" EXACT []
xref: MIM:620184
is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome
is_a: DOID:10907 ! microcephaly
is_a: DOID:2355 ! anemia
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2023-01-10T08:37:10Z

[Term]
id: DOID:9006378
name: Facial Hemihypertrophy
alt_id: MIM:133900
synonym: "Facial Asymmetry" EXACT []
synonym: "Hemifacial Hyperplasia" EXACT []
synonym: "Hemifacial Hypertrophy" EXACT []
xref: MESH:C563014
is_a: DOID:9002221 ! Hyperplasia
is_a: DOID:9008797 ! Facial Asymmetry

[Term]
id: DOID:9006379
name: Follicular Cyst
def: "Cyst due to the occlusion of the duct of a follicle or small gland." [MESH:D005497]
synonym: "Follicular Cysts" EXACT []
xref: EFO:1001329
xref: MESH:D005497
xref: RDO:0002171
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9006380
name: Bilateral Hearing Loss
alt_id: RDO:0000494
def: "Partial hearing loss in both ears." [MESH:D006312]
synonym: "Bilateral Hearing Losses" EXACT []
xref: MESH:D006312
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9006381
name: Chromosome 1, Trisomy 1q42 qter
synonym: "Duplication 1q42 qter" EXACT []
synonym: "Trisomy 1q42 qter" EXACT []
xref: MESH:C538084
xref: RDO:0004018
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9006382
name: X-Linked Hydrocephalus
alt_id: MIM:307000
synonym: "HSAS" EXACT []
synonym: "HSAS1" EXACT []
synonym: "HYCX" EXACT []
synonym: "Hydrocephalus due to aqueductal stenosis" EXACT []
synonym: "Hydrocephalus due to congenital stenosis of aqueduct of sylvius" EXACT []
synonym: "XLAS" NARROW []
synonym: "X-linked aqueductal stenosis" NARROW []
synonym: "X-linked congenital hydrocephalus" EXACT []
xref: MESH:C536078
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:10908 ! hydrocephalus

[Term]
id: DOID:9006383
name: Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities
def: "An autosomal recessive disorder characterized by a core phenotype of moderate to profound developmental delay, progressive microcephaly, epilepsy, and periventricular calcifications. Caused by homozygous or compound heterozygous mutation in the PPFIBP1 gene on chromosome 12p11." [MIM:620024]
synonym: "NEDSMBA" EXACT []
xref: MIM:620024
is_a: DOID:10907 ! microcephaly
is_a: DOID:182 ! calcinosis
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2022-11-14T12:53:15Z

[Term]
id: DOID:9006384
name: Carotid Intimal Medial Thickness 2
synonym: "CIMT2" EXACT []
xref: MIM:608447
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:9006385
name: Congenital Heart Defects, X-Linked
xref: MESH:C567444
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9006386
name: Scapulohumeral Muscular Dystrophy
alt_id: MIM:600416
xref: MESH:C562932
is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy

[Term]
id: DOID:9006387
name: Mitochondrial Phosphate Carrier Deficiency
alt_id: MIM:610773
synonym: "MPCD" EXACT []
synonym: "neonatal hypertrophic cardiomyopathy, respiratory insufficiency, hypotonia, and lactic acidosis" EXACT []
xref: MESH:C563665
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9006388
name: Vulvar Vestibulitis
def: "Inflammation of the vulvar vestibular region at the entrance of the VAGINA, generally involving surface mucosa and submucosal vestibular glands. It is characterized by ERYTHEMA and chronic recurrent pain in this area." [MESH:D054515]
synonym: "Vulvar Vestibulitides" EXACT []
synonym: "Vulvar Vestibulitis Syndrome" EXACT []
xref: MESH:D054515
xref: RDO:0004673
is_a: DOID:3901 ! vulvitis

[Term]
id: DOID:9006391
name: Spinal Cord Neoplasms
def: "Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." [MESH:D013120]
synonym: "intradural extramedullary spinal cord neoplasms" EXACT []
synonym: "Intramedullary Spinal Cord Neoplasms" EXACT []
synonym: "Primary Intramedullary Spinal Cord Neoplasms" EXACT []
synonym: "Spinal Cord Neoplasm" EXACT []
synonym: "Spinal Cord Neoplasms, Benign" EXACT []
synonym: "Spinal Cord Neoplasms, Malignant" EXACT []
synonym: "Spinal Cord Tumor" EXACT []
synonym: "spinal cord tumors" EXACT []
xref: EFO:0003828
xref: MESH:D013120
is_a: DOID:319 ! spinal cord disease
is_a: DOID:9007701 ! Central Nervous System Neoplasms

[Term]
id: DOID:9006392
name: Anetoderma
def: "Benign DERMATOSIS caused by a loss of dermal ELASTIC TISSUE resulting in localized sac-like areas of flaccid skin. It can be either primary (idiopathic) or secondary to other skin conditions, PENICILLAMINE use, or premature birth." [MESH:D057088]
synonym: "Anetodermas" EXACT []
synonym: "Primary Anetoderma" EXACT []
synonym: "Primary Anetodermas" EXACT []
synonym: "Secondary Anetoderma" EXACT []
synonym: "Secondary Anetodermas" EXACT []
xref: MESH:D057088
xref: NCI:C133885
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9006393
name: Dowling-Degos Disease 2
synonym: "DDD2" EXACT []
xref: MIM:615327
is_a: DOID:0060256 ! Dowling-Degos disease

[Term]
id: DOID:9006394
name: CLAPO Syndrome
alt_id: MIM:613089
synonym: "Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth" EXACT []
synonym: "Clapo" EXACT []
synonym: "Lopez-Gutierrez Syndrome" EXACT []
xref: MESH:C567763
is_a: DOID:11294 ! arteriovenous malformation
is_a: DOID:225 ! syndrome
is_a: DOID:75 ! lymphatic system disease

[Term]
id: DOID:9006395
name: Copper-Overload Cirrhosis
xref: MESH:C566858
xref: RDO:0015081
is_a: DOID:893 ! Wilson disease

[Term]
id: DOID:9006396
name: Red Skin Pigment Anomaly of New Guinea
alt_id: MIM:266350
synonym: "Red skin pigment, New Guinea type" EXACT []
xref: MESH:C535515
is_a: DOID:10123 ! pigmentation disease

[Term]
id: DOID:9006397
name: Ectodermal Dysplasia-Skin Fragility Syndrome
alt_id: MIM:604536
alt_id: OMIA:001864
synonym: "EDSFS" EXACT []
synonym: "McGrath syndrome" EXACT []
xref: MESH:C536183
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9006398
name: Rudd Klimek Syndrome
synonym: "Caudal dysgenesis familial type" EXACT []
synonym: "Familial caudal dysgenesis" EXACT []
xref: MESH:C535879
xref: RDO:0001232
is_a: DOID:225 ! syndrome
is_a: DOID:9000545 ! Ectromelia

[Term]
id: DOID:9006399
name: Mesonephroma
def: "A rare tumor of the female genital tract, most often the ovary, formerly considered to be derived from mesonephric rests. Two varieties are recognized: (1) clear cell carcinoma, so called because of its histologic resemblance to renal cell carcinoma, and now considered to be of muellerian duct derivation and (2) an embryonal tumor (called also ENDODERMAL SINUS TUMOR and yolk sac tumor), occurring chiefly in children. The latter variety may also arise in the testis. (Dorland, 27th ed)" [MESH:D008649]
synonym: "mesonephromas" EXACT []
xref: MESH:D008649
is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms

[Term]
id: DOID:9006402
name: Odontomicronychial Dysplasia
alt_id: MIM:601319
xref: MESH:C537741
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:4123 ! nail disease
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9006403
name: Cardiac Sinus Arrest
def: "The omission of atrial activation that is caused by transient cessation of impulse generation at the SINOATRIAL NODE. It is characterized by a prolonged pause without P wave in an ELECTROCARDIOGRAM. Sinus arrest has been associated with sleep apnea (REM SLEEP-RELATED SINUS ARREST)." [MESH:D054138]
synonym: "Cardiac Sinus Arrests" EXACT []
synonym: "Cardiac Sinus Pause" EXACT []
synonym: "Cardiac Sinus Pauses" EXACT []
xref: MESH:D054138
is_a: DOID:9002907 ! Sinus Arrhythmia

[Term]
id: DOID:9006404
name: Tubulointerstitial Nephritis and Uveitis
alt_id: MIM:607665
synonym: "Dobrin syndrome" EXACT []
synonym: "TINU syndrome" EXACT []
synonym: "Tubulointerstitial nephritis and uveitis syndrome" EXACT []
synonym: "Tubulointerstitial Nephritis with Uveitis" EXACT []
xref: MESH:C536922
is_a: DOID:1063 ! interstitial nephritis
is_a: DOID:13141 ! uveitis

[Term]
id: DOID:9006405
name: Pancreatic Lipase Deficiency
synonym: "PANCREATIC COLIPASE DEFICIENCY" EXACT []
synonym: "PNLIPD" EXACT []
xref: MIM:614338
xref: NCI:C129030
xref: RDO:9000628
is_a: DOID:26 ! pancreas disease
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:9006406
name: Xanthogranulomatous Sialadenitis
xref: MESH:C536763
is_a: DOID:10303 ! sialadenitis
is_a: DOID:3345 ! xanthomatosis
is_a: DOID:9000769 ! Parotid Neoplasms
is_a: DOID:9002019 ! Granuloma

[Term]
id: DOID:9006407
name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 29
def: "A neuromuscular disorder characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs. Caused by homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24." [MIM:620793]
synonym: "LGMDR29" EXACT []
xref: MIM:620793
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy
created_by: tutajm
creation_date: 2024-07-30T12:09:13Z

[Term]
id: DOID:9006408
name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
def: "This disease is an autosomal recessive complex neurologic disorder characterized by global developmental delay apparent from infancy, impaired intellectual development, poor or absent speech, behavioral abnormalities, and various hyperkinetic movement disorders, including dystonia, spasticity, and cerebellar ataxia, that interfere with gait and cause a stooped posture. The disorder appears to be progressive with age-related deterioration of cognitive and motor function." [MIM:620785]
synonym: "NEDPM" EXACT []
xref: MIM:620785
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulederkind
creation_date: 2024-07-12T09:45:02Z

[Term]
id: DOID:9006409
name: Piscirickettsiaceae Infections
def: "Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish." [MESH:D044225]
synonym: "Piscirickettsiaceae Infection" EXACT []
synonym: "Piscirickettsioses" EXACT []
synonym: "Piscirickettsiosis" EXACT []
xref: EFO:1001397
xref: MESH:D044225
xref: RDO:0007509
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9006410
name: Optic Atrophy 15
def: "Optic atrophy caused by homozygous or compound heterozygous mutation in the MCAT gene on chromosome 22q13." [MIM:620583]
synonym: "OPA15" EXACT []
xref: MIM:620583
is_a: DOID:9005850 ! Hereditary Optic Atrophies
created_by: tutajm
creation_date: 2023-12-04T12:01:41Z

[Term]
id: DOID:9006411
name: Testicular Injury
def: "Damage inflicted on a testicle as the direct or indirect result of an external force or agent." []
synonym: "testicular injuries" EXACT []
synonym: "testis injuries" EXACT []
synonym: "testis injury" EXACT []
is_a: DOID:2519 ! testicular disease
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9006412
name: Frontootopalatodigital Osteodysplasia
xref: MESH:C567578
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9006413
name: Autosomal Dominant Intellectual Developmental Disorder 72
def: "An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features. Caused by heterozygous mutation in the SRRM2 gene on chromosome 16p13." [MIM:620439]
synonym: "intellectual developmental disorder, autosomal dominant 72" EXACT []
synonym: "MRD72" EXACT []
xref: MIM:620439
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2023-07-07T12:45:20Z

[Term]
id: DOID:9006414
name: Breast Cancer, Familial Male
xref: MESH:C566178
is_a: DOID:1614 ! male breast cancer
is_a: DOID:9008952 ! Breast Cancer, Familial

[Term]
id: DOID:9006415
name: Epidermodysplasia Verruciformis 2
synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2" EXACT []
synonym: "EV2" EXACT []
xref: MIM:618231
is_a: DOID:13777 ! epidermodysplasia verruciformis
created_by: slaulede
creation_date: 2019-01-14T13:46:07Z

[Term]
id: DOID:9006416
name: Platelet Prostacyclin Receptor Defect
alt_id: MIM:262875
synonym: "Vienna-Hietzing Defect" EXACT []
xref: MESH:C564884
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:9006417
name: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
def: "A severe early-onset disorder characterized by impaired smooth muscle contractility in the bladder and intestines. Caused by compound heterozygous mutation in the MYL9 gene on chromosome 20q11. (OMIM)" []
synonym: "MMIHS4" EXACT []
xref: MIM:619365
is_a: DOID:0060610 ! megacystis-microcolon-intestinal hypoperistalsis syndrome
created_by: mtutaj
creation_date: 2021-06-23T10:56:10Z

[Term]
id: DOID:9006418
name: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA
alt_id: MIM:618718
def: "An autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities." [MIM:618718]
synonym: "NEDBASH" EXACT []
xref: EFO:0010658
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:92 ! speech disorder
created_by: slaulede
creation_date: 2020-01-14T15:23:08Z

[Term]
id: DOID:9006419
name: Congenital Microcoria
alt_id: MIM:156600
alt_id: RDO:0003411
synonym: "CHROMOSOME 13q32 DELETION SYNDROME" EXACT []
synonym: "Congenital miosis" EXACT []
synonym: "MCOR" EXACT []
synonym: "Pinhole pupils" EXACT []
xref: MESH:C537550
is_a: DOID:238 ! pupil disease

[Term]
id: DOID:9006420
name: Zellweger Leukodystrophy
xref: MESH:C531857
xref: RDO:0000245
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:9006421
name: Feminization
def: "Development of female secondary SEX CHARACTERISTICS in the MALE. It is due to the effects of estrogenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs." [MESH:D005262]
synonym: "Feminizations" EXACT []
xref: MESH:D005262
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9006422
name: Chromosome 1, Duplication 1p21 p32
synonym: "Duplication 1p21 p32" EXACT []
synonym: "Trisomy 1p21 p32" EXACT []
xref: MESH:C535364
xref: RDO:0000446
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9006423
name: Nephronophthisis-like Nephropathy 2
def: "An autosomal recessive cystic kidney disease characterized by onset of progressive renal insufficiency in the first decades of life. Caused by homozygous mutation in the SLC41A1 gene on chromosome 1q32. (OMIM)" []
synonym: "NPHPL2" EXACT []
xref: MIM:619468
is_a: DOID:12712 ! nephronophthisis
created_by: mtutaj
creation_date: 2021-08-13T17:00:31Z

[Term]
id: DOID:9006424
name: Cleft Lip with or without Cleft Palate, Nonsyndromic, 8
xref: MESH:C565070
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9006426
name: Cardiac Rhabdomyoma
def: "This is a well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus." [NCI:C6739]
synonym: "heart rhabdomyoma" EXACT []
xref: EFO:1000150
xref: MONDO:0006123
xref: NCI:C6739
is_a: DOID:0060091 ! cardiovascular organ benign neoplasm
is_a: DOID:9003122 ! Rhabdomyoma
is_a: DOID:9006547 ! Heart Neoplasms
created_by: slaulede
creation_date: 2022-10-10T16:39:39Z

[Term]
id: DOID:9006427
name: QT Interval, Variation In
xref: MIM:610141
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:9006428
name: Hypoglossia with Situs Inversus
alt_id: MIM:612776
def: "Hypoglossia with situs inversus is a very rare congenital condition that likely represents a developmental field defect. Only sporadic cases have been reported. Hypoglossia is part of a group of malformation syndromes collectively termed 'oromandibular limb hypogenesis syndromes', that usually include limb defects. (OMIM)" []
synonym: "HYPOGLOSSIA, ISOLATED" RELATED []
xref: MESH:C567567
xref: RDO:0015614
is_a: DOID:758 ! situs inversus
is_a: DOID:9004659 ! Respiration Disorders
is_a: DOID:9006733 ! Stomatognathic System Abnormalities

[Term]
id: DOID:9006429
name: Cartwright Nelson Fryns Syndrome
xref: MESH:C535917
xref: RDO:0001285
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9002231 ! Fetal Growth Retardation
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9006431
name: Metaphyseal Chondrodysplasia with Retinitis Pigmentosa
alt_id: MIM:250410
synonym: "RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES" EXACT []
synonym: "RPSKA" EXACT []
xref: MESH:C565398
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:9000073 ! Metaphyseal Chondrodysplasia

[Term]
id: DOID:9006432
name: Brachydactyly, Type E
synonym: "BDE" EXACT []
xref: MESH:C566194
is_a: DOID:0050581 ! brachydactyly

[Term]
id: DOID:9006433
name: Cracked Tooth Syndrome
def: "Incomplete fracture of any part of a tooth, characterized by pain during mastication and sensitivity to heat, cold, sweet or sour tastes, and alcohol; it is often undiagnosed because the tooth is usually X-ray negative and normal to pulp vitality tests." [MESH:D003387]
synonym: "Cracked Tooth Syndromes" EXACT []
xref: MESH:D003387
is_a: DOID:225 ! syndrome
is_a: DOID:9005844 ! Tooth Fractures

[Term]
id: DOID:9006434
name: Hoarding Disorder
def: "Disordered behavior associated with clinically significant distress or impairment in social, occupational or other important areas of functioning and persistent difficulty parting with possessions due to a perceived need to save the items and distress associated with discarding them. (from DSM-V) The quantity of collected items sets the behavior apart from normal collecting behaviors." [MESH:D000067836]
synonym: "Hoarding Disorders" EXACT []
xref: MESH:D000067836
is_a: DOID:10933 ! obsessive-compulsive disorder

[Term]
id: DOID:9006435
name: Mental Retardation Wolff Type
alt_id: MIM:277990
synonym: "Wolff mental retardation syndrome" EXACT []
synonym: "Wolff Zimmermann syndrome" EXACT []
xref: MESH:C537448
is_a: DOID:1059 ! intellectual disability

[Term]
id: DOID:9006436
name: Foodborne Diseases
def: "Acute illnesses, usually affecting the GASTROINTESTINAL TRACT, brought on by consuming contaminated food or beverages. Most of these diseases are infectious, caused by a variety of bacteria, viruses, or parasites that can be foodborne. Sometimes the diseases are caused by harmful toxins from the microbes or other chemicals present in the food. Especially in the latter case, the condition is often called food poisoning." [MESH:D005517]
synonym: "Food-borne Disease" EXACT []
synonym: "Foodborne Disease" EXACT []
synonym: "Food borne Diseases" EXACT []
synonym: "Food borne Illnesses" EXACT []
synonym: "Foodborne Illnesses" EXACT []
synonym: "Food Poisoning" EXACT []
synonym: "Food Poisonings" EXACT []
xref: MESH:D005517
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:9006437
name: Macular Degeneration, Early-Onset
synonym: "EOMD" EXACT []
synonym: "FBN2-RELATED CONDITION" BROAD []
xref: MIM:616118
is_a: DOID:4448 ! macular degeneration

[Term]
id: DOID:9006438
name: Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma
def: "A rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. (OMIM)" []
synonym: "MSPKA" EXACT []
xref: MIM:251750
is_a: DOID:0060305 ! megalocornea
is_a: DOID:9001251 ! Microspherophakia
is_a: DOID:9004201 ! Ectopia Lentis

[Term]
id: DOID:9006439
name: Electric Burns
def: "Burns produced by contact with electric current or from a sudden discharge of electricity." [MESH:D002058]
synonym: "Electric Burn" EXACT []
xref: MESH:D002058
is_a: DOID:9001588 ! Electric Injuries
is_a: DOID:9007730 ! Burns

[Term]
id: DOID:9006441
name: Abdominal Pregnancy
def: "A type of ectopic pregnancy in which the EMBRYO, MAMMALIAN implants in the ABDOMINAL CAVITY instead of in the ENDOMETRIUM of the UTERUS." [MESH:D011269]
synonym: "Abdominal Pregnancies" EXACT []
xref: MESH:D011269
is_a: DOID:0060329 ! ectopic pregnancy

[Term]
id: DOID:9006443
name: Autolysis
def: "The spontaneous disintegration of tissues or cells by the action of their own autogenous enzymes." [MESH:D001329]
synonym: "Autolyses" EXACT []
xref: MESH:D001329
is_a: DOID:9006374 ! Postmortem Changes

[Term]
id: DOID:9006444
name: Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia
alt_id: MIM:609945
synonym: "Brachyphalangy, polydactyly and absent tibiae" EXACT []
xref: MESH:C537100
is_a: DOID:1148 ! polydactyly
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9006445
name: Congenital Amegakaryocytic Thrombocytopenia 1
alt_id: MIM:604498
def: "An autosomal recessive disorder characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34." []
synonym: "CAMT1" EXACT []
is_a: DOID:0090118 ! congenital amegakaryocytic thrombocytopenia
created_by: mtutaj
creation_date: 2023-09-01T09:45:24Z

[Term]
id: DOID:9006446
name: Battaglia Neri Syndrome
xref: MESH:C537662
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006447
name: Eye Injuries
def: "Damage or trauma inflicted to the eye by external means. The concept includes both surface injuries and intraocular injuries." [MESH:D005131]
synonym: "Eye Injury" EXACT []
xref: EFO:0009485
xref: MESH:D005131
xref: RDO:0005555
is_a: DOID:5614 ! eye disease
is_a: DOID:9001053 ! Facial Injuries

[Term]
id: DOID:9006448
name: Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification
alt_id: MIM:221995
xref: MESH:C565632
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12387 ! nephrogenic diabetes insipidus
is_a: DOID:182 ! calcinosis

[Term]
id: DOID:9006449
name: Chills
def: "The sudden sensation of being cold. It may be accompanied by SHIVERING." [MESH:D023341]
xref: MESH:D023341
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9006450
name: Familial Natural Short Sleep 2
synonym: "FNSS2" EXACT []
xref: MIM:618591
is_a: DOID:9006913 ! Short Sleep
created_by: slaulede
creation_date: 2019-10-11T11:18:27Z

[Term]
id: DOID:9006451
name: Rud Syndrome
alt_id: RDO:0001231
synonym: "Dwarfism ichthyosiform erythroderma mental deficiency syndrome" EXACT []
synonym: "Ichthyosis hypogonadism mental retardation epilepsy syndrome" EXACT []
synonym: "Ichthyosis male hypogonadism syndrome" EXACT []
synonym: "Ichthyosis oligophrenia epilepsy syndrome" EXACT []
synonym: "Neuroichthyosis hypogonadism syndrome" EXACT []
synonym: "Rud's syndrome" EXACT []
xref: MESH:C535878
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1697 ! ichthyosis
is_a: DOID:1826 ! epilepsy
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006452
name: Otodental Dysplasia
alt_id: MIM:166750
synonym: "Chromosome 11q13 Deletion Syndrome" EXACT []
synonym: "Oculootodental Syndrome" NARROW []
synonym: "Otodental Syndrome" EXACT []
synonym: "Otodental Syndrome With Coloboma" NARROW []
xref: MESH:C563482
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:12270 ! coloboma
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9006453
name: Open Fractures
def: "Fractures in which there is an external wound communicating with the break of the bone." [MESH:D005597]
synonym: "Compound Fracture" EXACT []
synonym: "Compound Fractures" EXACT []
synonym: "Open Fracture" EXACT []
xref: MESH:D005597
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9006454
name: vulvar intraepithelial neoplasia
def: "This disease involves intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. It includes vulvar squamous intraepithelial lesion, HPV-associated and vulvar intraepithelial neoplasia, HPV-independent." [NCI:C4756]
synonym: "intraepithelial neoplasia of vulva" EXACT []
synonym: "Low Grade Vulvar Intraepithelial Neoplasia" NARROW []
synonym: "squamous vulvar intraepithelial neoplasia" EXACT []
synonym: "VIN" EXACT []
synonym: "vulval intraepithelial neoplasia" EXACT []
synonym: "vulvar intraepithelial tumor" EXACT []
xref: EFO:0002627
xref: EFO:1000330
xref: NCI:C4756
is_a: DOID:9005804 ! Vulvar Neoplasms
created_by: slaulede
creation_date: 2023-01-05T11:34:36Z

[Term]
id: DOID:9006455
name: Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss
synonym: "EBS6" EXACT []
synonym: "EBSSH" EXACT []
synonym: "epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy" EXACT []
synonym: "generalized epidermolysis bullosa simplex with scarring and hair loss" EXACT []
xref: MIM:617294
is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type

[Term]
id: DOID:9006456
name: Thomas Syndrome
xref: MESH:C536514
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9006457
name: Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities
xref: MESH:C567209
xref: RDO:0015348
is_a: DOID:1059 ! intellectual disability
is_a: DOID:37 ! skin disease
is_a: DOID:9005077 ! Joint Instability

[Term]
id: DOID:9006458
name: Congenital Pulmonary Lymphangiectasia
alt_id: MIM:265300
synonym: "CPL" EXACT []
synonym: "pulmonary cystic lymphangiectasis" EXACT []
synonym: "pulmonary lymphangiectasia" EXACT []
synonym: "pulmonary lymphangiomatosis" EXACT []
xref: MESH:C537727
is_a: DOID:850 ! lung disease
is_a: DOID:9002335 ! Lymphangiectasis

[Term]
id: DOID:9006459
name: BURATTI-HAREL SYNDROME
def: "This is a neurodevelopmental disorder characterized by infantile hypotonia, global developmental delay, mild motor and speech delay, and mild to moderately impaired intellectual development. Patients have prominent dysmorphic facial features, including hypertelorism, downslanting palpebral fissures, strabismus, and small low-set ears." [MIM:619314]
synonym: "BURHAS" EXACT []
xref: MIM:619314
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2021-08-10T18:22:11Z

[Term]
id: DOID:9006460
name: Breast Cancer Lymphedema
def: "Abnormal accumulation of lymph in the arm, shoulder and breast area associated with surgical or radiation breast cancer treatments (e.g., MASTECTOMY)." [MESH:D000072656]
synonym: "Breast Cancer Lymphedemas" EXACT []
synonym: "Breast Cancer Related Arm Lymphedema" EXACT []
synonym: "Breast Cancer Related Lymphedema" EXACT []
synonym: "Breast Cancer Treatment Related Lymphedema" EXACT []
synonym: "Post mastectomy Lymphedema" EXACT []
synonym: "Postmastectomy Lymphedema" EXACT []
synonym: "Post-mastectomy Lymphedemas" EXACT []
synonym: "Postmastectomy Lymphedemas" EXACT []
xref: MESH:D000072656
is_a: DOID:4977 ! lymphedema
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9006461
name: Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease
synonym: "IMNEPD" BROAD []
xref: MIM:PS616263
is_a: DOID:26 ! pancreas disease
is_a: DOID:28 ! endocrine system disease
is_a: DOID:863 ! nervous system disease
created_by: tutajm
creation_date: 2024-09-09T09:33:04Z

[Term]
id: DOID:9006462
name: Coma
def: "A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem RETICULAR FORMATION." [MESH:D003128]
synonym: "comas" EXACT []
synonym: "comatose" EXACT []
synonym: "EPISODIC COMA" NARROW []
synonym: "pseudocoma" NARROW []
synonym: "pseudocomas" NARROW []
xref: MESH:D003128
is_a: DOID:9007650 ! Unconsciousness

[Term]
id: DOID:9006463
name: Erythema Induratum
def: "A type of panniculitis characterized histologically by the presence of granulomas, vasculitis, and necrosis. It is traditionally considered to be the tuberculous counterpart of nodular vasculitis, but is now known to occur without tuberculous precedent. It is seen most commonly in adolescent and menopausal women, is initiated or exacerbated by cold weather, and typically presents as one or more recurrent erythrocyanotic nodules or plaques on the calves. The nodules may progress to form indurations, ulcerations, and scars." [MESH:D004891]
synonym: "Bazin's Disease" EXACT []
synonym: "Bazin Disease" EXACT []
synonym: "Bazins Disease" EXACT []
synonym: "Tuberculosis Cutis Indurativa" EXACT []
xref: MESH:D004891
is_a: DOID:1526 ! panniculitis
is_a: DOID:9005437 ! Cutaneous Tuberculosis
is_a: DOID:9006976 ! Erythema

[Term]
id: DOID:9006464
name: Storage of Unusual Polysaccharide
alt_id: MIM:263600
xref: MESH:C564877
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:9006465
name: Meconium Ileus
def: "This disease is intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium." [MIM:614665]
synonym: "cystic fibrosis associated meconium ileus" NARROW []
synonym: "INTESTINAL OBSTRUCTION IN THE NEWBORN DUE TO GUANYLATE CYCLASE 2C DEFICIENCY" EXACT []
xref: EFO:0004608
xref: MIM:614665
is_a: DOID:8440 ! ileus
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9006467
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS
def: "An autosomal dominant neurodevelopmental disorder with onset of features in infancy or early childhood. Affected individuals have global developmental delay with impaired intellectual development and absent speech." [MIM:618470]
synonym: "ACTL6B-RELATED BAFOPATHY" BROAD []
synonym: "IDDSSAD" EXACT []
xref: MIM:618470
is_a: DOID:1059 ! intellectual disability
created_by: slaulede
creation_date: 2019-08-05T14:55:36Z

[Term]
id: DOID:9006468
name: Familial Burkitt's Lymphoma
xref: MESH:C538493
xref: RDO:0004445
is_a: DOID:8584 ! Burkitt lymphoma

[Term]
id: DOID:9006470
name: Enzootic Pneumonia of Calves
def: "Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with PASTEURELLA MULTOCIDA producing a purulent BRONCHOPNEUMONIA. Sometimes present are MANNHEIMIA HAEMOLYTICA; HAEMOPHILUS SOMNUS and mycoplasma species." [MESH:D048089]
synonym: "Enzootic Calf Pneumonia" EXACT []
synonym: "Enzootic Calf Pneumonias" EXACT []
xref: EFO:0007256
xref: MESH:D048089
is_a: DOID:874 ! bacterial pneumonia
is_a: DOID:9006345 ! Bovine Respiratory Disease Complex

[Term]
id: DOID:9006471
name: Immunodeficiency 106
def: "An autosomal recessive immunologic disorder characterized by increased susceptibility to viral infections beginning in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22." [MIM:619935]
synonym: "IFNAR1 deficiency" EXACT []
synonym: "IMD106" EXACT []
synonym: "immunodeficiency 106, susceptibility to viral infections" EXACT []
xref: MIM:619935
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2022-07-01T12:38:03Z

[Term]
id: DOID:9006472
name: Pseudoarthrogryposis
alt_id: MIM:177300
synonym: "ankylosis at elbow and knee" EXACT []
synonym: "hereditary congenital rigidity of elbows and knees" EXACT []
xref: MESH:C566753
is_a: DOID:227 ! ankylosis
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9006473
name: Bilateral Vestibulopathy
def: "Impairment of the vestibular function of both inner ears which can cause difficulties with balance, gait, VERTIGO, and visual blurring." [MESH:D000071699]
synonym: "Bilateral Vestibular Deficiency" EXACT []
synonym: "Bilateral Vestibular Insufficiency" EXACT []
synonym: "Bilateral Vestibular Loss" EXACT []
synonym: "Vestibular Areflexia" EXACT []
xref: MESH:D000071699
xref: RDO:0016070
is_a: DOID:3426 ! vestibular disease
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9006474
name: Arterial Occlusive Diseases
alt_id: RDO:0004908
def: "Pathological processes which result in the partial or complete obstruction of ARTERIES. They are characterized by greatly reduced or absence of blood flow through these vessels. They are also known as arterial insufficiency." [MESH:D001157]
synonym: "ANTICHYMOTRYPSIN ISEHARA 1" RELATED []
synonym: "arterial obstructive disease" EXACT []
synonym: "Arterial Obstructive Diseases" EXACT []
synonym: "arterial occlusive disease" EXACT []
xref: EFO:0009085
xref: MESH:D001157
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:9006475
name: Glycoprotein Storage Disease
alt_id: MIM:232900
xref: MESH:C565538
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9006476
name: Spinocerebellar Ataxia with Epilepsy
synonym: "Myoclonic Epilepsy Myopathy Sensory Ataxia" EXACT []
xref: MESH:C564395
xref: RDO:0013375
is_a: DOID:1826 ! epilepsy
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9002121 ! Spinocerebellar Ataxias

[Term]
id: DOID:9006477
name: Trilogy of Fallot
def: "A combination of congenital heart defects consisting of three key features including ATRIAL SEPTAL DEFECTS; PULMONARY STENOSIS; and RIGHT VENTRICULAR HYPERTROPHY." [MESH:D014286]
synonym: "Fallot's Trilogy" EXACT []
synonym: "Fallots Trilogy" EXACT []
synonym: "Fallot Trilogy" EXACT []
xref: EFO:1001439
xref: MESH:D014286
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9006478
name: Amyloid Neuropathies
def: "Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)" [MESH:D017772]
synonym: "Amyloid Neuropathy" EXACT []
synonym: "Amyloid Polyneuropathies" EXACT []
synonym: "Amyloid Polyneuropathy" EXACT []
synonym: "Secondary Amyloid Neuropathies" EXACT []
synonym: "Secondary Amyloid Neuropathy" EXACT []
xref: MESH:D017772
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9120 ! amyloidosis

[Term]
id: DOID:9006479
name: Humeroradial Multiple Synostosis Syndrome
xref: MESH:C565509
is_a: DOID:11971 ! synostosis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006480
name: Delayed Cranial Ossification due to CBFB Haploinsufficiency
xref: MESH:C565160
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:9001276 ! Failure to Thrive
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9006481
name: Imerslund-Grasbeck Syndrome 1
alt_id: MIM:261100
alt_id: OMIA:000565
alt_id: OMIA:001786
synonym: "enterocyte cobalamin malabsorption" EXACT []
synonym: "Enterocyte intrinsic factor receptor, defect of" EXACT []
synonym: "Imerslund-Gräsbeck syndrome 1" EXACT []
synonym: "Intestinal cobalamin malabsorption, CUBN-related" NARROW []
synonym: "intestinal cobalamin malabsorption due to CUBN mutation" NARROW []
synonym: "juvenile pernicious anemia due to selective intestinal malabsorption of vitamin B12, with proteinuria" EXACT []
synonym: "megaloblastic anemia 1" EXACT []
synonym: "megaloblastic anemia-1, Finnish type" EXACT []
synonym: "MGA1" EXACT []
synonym: "recessive hereditary megaloblastic anemia 1" EXACT []
synonym: "RH-MGA1" EXACT []
xref: MESH:C538556
is_a: DOID:9006825 ! Imerslund-Grasbeck Syndrome

[Term]
id: DOID:9006482
name: Pulmonary Function
synonym: "LUNG FUNCTION, ACCELERATED RATE OF DECLINE IN, SMOKING-RELATED" EXACT []
synonym: "PLF" EXACT []
xref: MIM:608852
is_a: DOID:850 ! lung disease

[Term]
id: DOID:9006483
name: Retinal Neoplasms
def: "Tumors or cancer of the RETINA." [MESH:D019572]
synonym: "neoplasm of retina" EXACT []
synonym: "retinal neoplasm" EXACT []
synonym: "retinal tumor" EXACT []
synonym: "retinal tumors" EXACT []
xref: EFO:1000509
xref: MESH:D019572
is_a: DOID:5679 ! retinal disease
is_a: DOID:9004059 ! Eye Neoplasms

[Term]
id: DOID:9006484
name: Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity
synonym: "ASPARTYL-tRNA SYNTHETASE DEFICIENCY" EXACT []
synonym: "HBSL" EXACT []
xref: MIM:615281
xref: RDO:9000890
is_a: DOID:607 ! paraplegia
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases

[Term]
id: DOID:9006485
name: Hyper-IgE Recurrent Infection Syndrome 6
def: "An autosomal dominant immunologic disorder characterized by early-childhood onset of severe refractory atopic dermatitis, IgE-mediated food and drug allergies, asthma, and eosinophilic esophagitis. Caused by heterozygous gain-of-function mutation in the STAT6 gene on chromosome 12q13." [MIM:620532]
synonym: "HIES6" EXACT []
synonym: "Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections" EXACT []
xref: MIM:620532
is_a: DOID:0080545 ! hyper IgE syndrome
created_by: mtutaj
creation_date: 2023-10-09T10:47:27Z

[Term]
id: DOID:9006486
name: Vertebral Hypoplasia with Lumbar Kyphosis
alt_id: MIM:192900
xref: MESH:C566002
is_a: DOID:4667 ! kyphosis

[Term]
id: DOID:9006487
name: Reoviridae Infections
def: "Infections produced by reoviruses, general or unspecified." [MESH:D012088]
synonym: "Reoviridae Infection" EXACT []
synonym: "Reoviridae infectious disease" EXACT []
synonym: "Reovirus Infection" EXACT []
synonym: "Reovirus Infections" EXACT []
xref: EFO:0007464
xref: MESH:D012088
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:9006488
name: Chromosome 4, Monosomy 4p14 p16
synonym: "Deletion 4p14 p16" EXACT []
synonym: "Monosomy 4p14 p16" EXACT []
xref: MESH:C537638
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9006489
name: Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia
alt_id: MIM:226110
xref: MESH:C565591
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:4123 ! nail disease

[Term]
id: DOID:9006490
name: Lupus Vulgaris
def: "A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." [MESH:D008177]
xref: EFO:1001023
xref: MESH:D008177
is_a: DOID:9005437 ! Cutaneous Tuberculosis

[Term]
id: DOID:9006491
name: pemphigus vegetans
def: "This is a rare, localized, benign variant of pemphigus vulgaris, an autoimmune blistering disorder. There is a localized vegetating papillomatous response in this variant." [https://en.wikipedia.org/wiki/Pemphigus_vegetans, NCI:C34910]
synonym: "P Veg" EXACT []
xref: EFO:0008613
is_a: DOID:0060851 ! pemphigus vulgaris
created_by: slaulede
creation_date: 2023-02-23T17:15:09Z

[Term]
id: DOID:9006492
name: Glycogen Storage Disease IIID
synonym: "GSD IIID" EXACT []
xref: MESH:C566892
is_a: DOID:2748 ! glycogen storage disease III

[Term]
id: DOID:9006493
name: Glandular and Epithelial Neoplasms
def: "Neoplasms composed of glandular tissue, an aggregation of epithelial cells that elaborate secretions, and of any type of epithelium itself. The concept does not refer to neoplasms located in the various glands or in epithelial tissue." [MESH:D009375]
synonym: "epithelial neoplasm" EXACT []
synonym: "Epithelial Neoplasms" EXACT []
synonym: "Glandular Epithelial Neoplasm" EXACT []
synonym: "Glandular Epithelial Neoplasms" EXACT []
synonym: "Glandular Neoplasm" EXACT []
synonym: "glandular neoplasms" EXACT []
xref: EFO:0006858
xref: MESH:D009375
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:9006494
name: Follicular Thyroid Cancer
alt_id: MIM:188470
alt_id: RDO:0012092
synonym: "NMTC2" EXACT []
synonym: "THYROID CANCER, NONMEDULLARY, 2" EXACT []
xref: MESH:C572845
is_a: DOID:1781 ! thyroid cancer

[Term]
id: DOID:9006495
name: Coxa Magna
def: "Deformity of the hip characterized by enlargement and deformation of the FEMUR HEAD and FEMUR NECK, often with associated changes in the ACETABULUM. These changes may be secondary to other diseases (e.g. LEGG-PERTHES DISEASE; ARTHRITIS; HIP DISLOCATION, CONGENITAL) or TRAUMA." [MESH:D000070603]
synonym: "Coxa Magnas" EXACT []
synonym: "Femoral Head Deformities" EXACT []
synonym: "Femoral Head Deformity" EXACT []
xref: MESH:D000070603
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:9006496
name: Lordosis
def: "The anterior concavity in the curvature of the lumbar and cervical spine as viewed from the side. The term usually refers to abnormally increased curvature (hollow back, saddle back, swayback). It does not include lordosis as normal mating posture in certain animals ( = POSTURE + SEX BEHAVIOR, ANIMAL)." [MESH:D008141]
xref: MESH:D008141
is_a: DOID:9002608 ! Spinal Curvatures

[Term]
id: DOID:9006497
name: Progressive Interstitial Pneumonia of Sheep
def: "Chronic respiratory disease caused by the VISNA-MAEDI VIRUS. It was formerly believed to be identical with jaagsiekte (PULMONARY ADENOMATOSIS, OVINE) but is now recognized as a separate entity." [MESH:D011021]
synonym: "Maedi" EXACT []
xref: MESH:D011021
is_a: DOID:9004448 ! Slow Virus Diseases
is_a: DOID:9005091 ! Lentivirus Infections
is_a: DOID:9006097 ! Sheep Diseases

[Term]
id: DOID:9006498
name: Familial Lifelong Persistent Fever
alt_id: MIM:228400
xref: MESH:C565569
is_a: DOID:9006865 ! Fever of Unknown Origin

[Term]
id: DOID:9006499
name: Chilaiditi Syndrome
def: "Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." [MESH:D059269]
synonym: "Chilaiditi's Anomaly" EXACT []
synonym: "Chilaiditi's Syndrome" EXACT []
synonym: "Chilaiditi Anomaly" EXACT []
synonym: "Chilaiditis Anomaly" EXACT []
synonym: "Chilaiditis Syndrome" EXACT []
xref: EFO:1001776
xref: MESH:D059269
xref: RDO:0010005
is_a: DOID:225 ! syndrome
is_a: DOID:5353 ! colonic disease

[Term]
id: DOID:9006501
name: Psychotic Affective Disorders
def: "Disorders in which the essential feature is a severe disturbance in mood (depression, anxiety, elation, and excitement) accompanied by psychotic symptoms such as delusions, hallucinations, gross impairment in reality testing, etc." [MESH:D000341]
synonym: "Affective Psychoses" EXACT []
synonym: "Psychotic Affective Disorder" EXACT []
synonym: "psychotic mood disorder" EXACT []
synonym: "psychotic mood disorders" EXACT []
synonym: "psychotic reactive depression" EXACT []
xref: MESH:D000341
is_a: DOID:9000439 ! Schizophrenia Spectrum and Other Psychotic Disorders

[Term]
id: DOID:9006502
name: Congenital Micromelic Dysplasia with Dislocation of Radius
synonym: "Micromelic dysplasia dislocation of radius" EXACT []
xref: MESH:C537557
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9006503
name: Hemifacial Spasm, Familial
xref: MESH:C564198
xref: MIM:141405
is_a: DOID:9006607 ! Hemifacial Spasm

[Term]
id: DOID:9006505
name: Jamaican Vomiting Sickness
synonym: "Ackee poisoning" EXACT []
xref: MESH:C537562
is_a: DOID:9003189 ! Plant Poisoning

[Term]
id: DOID:9006506
name: Narcolepsy 7
synonym: "NRCLP7" EXACT []
xref: MIM:614250
is_a: DOID:8986 ! narcolepsy

[Term]
id: DOID:9006507
name: Marfanoid Habitus with Microcephaly and Glomerulonephritis
alt_id: MIM:248760
xref: MESH:C565411
is_a: DOID:10907 ! microcephaly
is_a: DOID:14323 ! Marfan syndrome
is_a: DOID:2921 ! glomerulonephritis

[Term]
id: DOID:9006508
name: Cardiac Conduction Defect, Nonprogressive
xref: MESH:C566186
xref: RDO:0014621
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:9006509
name: Segmentation Syndrome 1
synonym: "Klippel-Feil syndrome with laryngeal malformation" EXACT []
xref: MESH:C537538
xref: RDO:0003397
is_a: DOID:10426 ! Klippel-Feil syndrome

[Term]
id: DOID:9006511
name: Xerostomia
def: "Decreased salivary flow." [MESH:D014987]
synonym: "Asialia" EXACT []
synonym: "Asialias" EXACT []
synonym: "Hyposalivation" EXACT []
synonym: "Hyposalivations" EXACT []
synonym: "Mouth Dryness" EXACT []
synonym: "Xerostomias" EXACT []
xref: EFO:0009869
xref: MESH:D014987
is_a: DOID:10854 ! salivary gland disease

[Term]
id: DOID:9006512
name: Parkinson's Disease 10
alt_id: MIM:606852
synonym: "AAOPD" EXACT []
synonym: "PARK10" EXACT []
synonym: "Parkinson's Disease, Age At Onset Of" EXACT []
synonym: "Parkinson Disease 10" EXACT []
synonym: "Parkinson Disease, Age At Onset Of" EXACT []
xref: MESH:C564653
xref: RDO:0013538
is_a: DOID:14330 ! Parkinson's disease

[Term]
id: DOID:9006513
name: Oocyte Maturation Defect 1
synonym: "Oocyte/zygote/embryo maturation arrest 1" EXACT []
synonym: "OOMD" EXACT []
synonym: "OOMD1" EXACT []
synonym: "OZEMA1" EXACT []
xref: MIM:615774
is_a: DOID:9007456 ! Female Infertility

[Term]
id: DOID:9006514
name: Severe Hepatic Fibrosis due to Schistosoma Mansoni Infection
alt_id: RDO:0008919
synonym: "Severe Hepatic Fibrosis, Susceptibility to, due to Schistosoma Mansoni Infection" RELATED []
synonym: "SM2  HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA JAPONICUM INFECTION" NARROW []
xref: MIM:604201
is_a: DOID:5082 ! liver cirrhosis
is_a: DOID:9002869 ! Schistosomiasis Mansoni
is_a: DOID:9003155 ! Parasitic Liver Diseases

[Term]
id: DOID:9006515
name: Contagious Pleuropneumonia
def: "A pleuropneumonia of cattle and goats caused by species of MYCOPLASMA." [MESH:D011002]
synonym: "Contagious Pleuropneumonias" EXACT []
xref: EFO:0007221
xref: MESH:D011002
is_a: DOID:9002467 ! Mycoplasma Infections
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9006516
name: Prosthesis-Related Infections
def: "Infections resulting from the implantation of prosthetic devices. The infections may be acquired from intraoperative contamination (early) or hematogenously acquired from other sites (late)." [MESH:D016459]
synonym: "Prosthesis-Related Infection" EXACT []
xref: EFO:1001406
xref: MESH:D016459
xref: RDO:0006956
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9006517
name: Chromosome 18, Tetrasomy 18p
alt_id: MIM:614290
synonym: "18p Isochromosome" EXACT []
synonym: "18p Tetrasomy" EXACT []
synonym: "Isochromosome 18p syndrome" EXACT []
synonym: "Tetrasomy, Short Arm of Chromosome 18" EXACT []
xref: MESH:C538306
is_a: DOID:9008692 ! Aneuploidy

[Term]
id: DOID:9006518
name: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS
def: "This disease is characterized by mild global developmental delay and normal or variably impaired intellectual development. Most individuals have behavioral or neuropsychiatric disorders, including autism spectrum disorder (ASD), attention deficit-hyperactivity disorder (ADHD), and executive functioning deficits." [MIM:620065]
synonym: "DEDBANP" EXACT []
xref: MIM:620065
is_a: DOID:150 ! disease of mental health
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2022-12-06T10:14:20Z

[Term]
id: DOID:9006519
name: Generalized Epidermolysis Bullosa Simplex 1D
alt_id: MIM:601001
synonym: "autosomal recessive generalized intermediate or severe epidermolysis bullosa simplex 1D" EXACT []
synonym: "EBS1D" EXACT []
synonym: "EBSB1" RELATED []
xref: MESH:C563408
is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type

[Term]
id: DOID:9006523
name: Distal Arthrogryposis Type 2
synonym: "congenital contractures with major involvement of the hands and feet" EXACT []
synonym: "Distal Arthrogryposis Multiplex Congenita, Type 2" EXACT []
xref: MESH:C535379
is_a: DOID:0050646 ! distal arthrogryposis

[Term]
id: DOID:9006525
name: Distemper
def: "A name for several highly contagious viral diseases of animals, especially canine distemper. In dogs, it is caused by the canine distemper virus (DISTEMPER VIRUS, CANINE). It is characterized by a diphasic fever, leukopenia, gastrointestinal and respiratory inflammation and sometimes, neurologic complications. In cats it is known as FELINE PANLEUKOPENIA." [MESH:D004216]
synonym: "Canine Distemper" EXACT []
synonym: "Canine Distempers" EXACT []
synonym: "Distempers" EXACT []
xref: MESH:D004216
is_a: DOID:9003860 ! Morbillivirus Infections
is_a: DOID:9006855 ! Dog Diseases

[Term]
id: DOID:9006526
name: Dictyocaulus Infections
def: "Infection with nematodes of the genus DICTYOCAULUS. In deer, cattle, sheep, and horses the bronchi are the site of infestation." [MESH:D004022]
synonym: "Dictyocauliases" EXACT []
synonym: "Dictyocauliasis" EXACT []
synonym: "Dictyocaulus Infection" EXACT []
xref: EFO:0007235
xref: MESH:D004022
is_a: DOID:1255 ! trichostrongyloidiasis
is_a: DOID:9006372 ! Animal Helminthiasis

[Term]
id: DOID:9006527
name: Lentiginosis Profusa
alt_id: MIM:151001
synonym: "diffuse lentiginosis" EXACT []
synonym: "familial lentigines profusa" EXACT []
synonym: "familial multiple lentigines syndrome without systemic involvement" EXACT []
synonym: "generalized lentiginosis" EXACT []
synonym: "inherited patterned lentiginosis" EXACT []
xref: MESH:C573023
is_a: DOID:9000319 ! Lentigo

[Term]
id: DOID:9006528
name: Malignant Catarrh
def: "A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte." [MESH:D008304]
synonym: "Malignant Catarrhal Fever" EXACT []
synonym: "Malignant Catarrhal Fevers" EXACT []
synonym: "Malignant Catarrhs" EXACT []
xref: MESH:D008304
is_a: DOID:9002834 ! Herpesviridae Infections
is_a: DOID:9004723 ! Cattle Diseases

[Term]
id: DOID:9006529
name: Craniofacioskeletal Syndrome
alt_id: MIM:300712
xref: MESH:C567471
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9006530
name: 46,Xy True Hermaphroditism, Sry-Related
xref: MESH:C567575
xref: RDO:0015622
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development
is_a: DOID:9006982 ! Ovotesticular Disorders of Sex Development

[Term]
id: DOID:9006532
name: Hematologic Neoplasms
def: "Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). The commonest forms are the various types of LEUKEMIA, of LYMPHOMA, and of the progressive, life-threatening forms of the MYELODYSPLASTIC SYNDROMES." [MESH:D019337]
synonym: "Common Hematopoietic Neoplasm" NARROW []
synonym: "hematological neoplasm" EXACT []
synonym: "Hematological Neoplasms" EXACT []
synonym: "hematologic neoplasm" EXACT []
synonym: "Hematopoietic Malignancies" EXACT []
synonym: "Hematopoietic Malignancy" EXACT []
synonym: "hematopoietic neoplasm" EXACT []
synonym: "hematopoietic neoplasms" EXACT []
xref: EFO:1000201
xref: MESH:D019337
is_a: DOID:74 ! hematopoietic system disease
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:9006533
name: Chromosome 6, Monosomy 6p23
synonym: "Deletion 6p23" EXACT []
synonym: "Monosomy 6p23" EXACT []
xref: MESH:C537765
xref: RDO:0003663
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9006534
name: Nervous System Malformations
def: "Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis." [MESH:D009421]
synonym: "ABNORMALITY OF THE NERVOUS SYSTEM" EXACT []
synonym: "Congenital Anomalies, Nervous System" EXACT []
synonym: "Cranioschises" EXACT []
synonym: "Cranioschisis" EXACT []
synonym: "Nervous System Abnormalities" EXACT []
synonym: "Nervous System Abnormality" EXACT []
synonym: "Nervous System Anomalies" EXACT []
synonym: "Nervous System Anomaly" EXACT []
synonym: "Nervous System Congenital Abnormalities" EXACT []
synonym: "Nervous System Congenital Malformations" EXACT []
synonym: "Nervous System Malformation" EXACT []
xref: MESH:D009421
is_a: DOID:863 ! nervous system disease
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9006535
name: Hookworm Infections
def: "Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ANCYLOSTOMIASIS and NECATORIASIS are available." [MESH:D006725]
synonym: "Bunostomiases" EXACT []
synonym: "Bunostomiasis" EXACT []
synonym: "Hookworm Infection" EXACT []
xref: EFO:0007314
xref: MESH:D006725
xref: RDO:0004827
is_a: DOID:9003369 ! Strongylida Infections

[Term]
id: DOID:9006536
name: Retropharyngeal Abscess
def: "An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries." [MESH:D017703]
synonym: "Retropharyngeal Abscesses" EXACT []
xref: EFO:1001415
xref: MESH:D017703
is_a: DOID:2275 ! pharyngitis
is_a: DOID:9000325 ! Abscess

[Term]
id: DOID:9006537
name: Supratentorial Neoplasms
def: "Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and BRAIN STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation." [MESH:D015173]
synonym: "Benign Supratentorial Neoplasm" EXACT []
synonym: "Benign Supratentorial Neoplasms" EXACT []
synonym: "Malignant Supratentorial Neoplasm" EXACT []
synonym: "Malignant Supratentorial Neoplasms" EXACT []
synonym: "Primary Supratentorial Neoplasm" EXACT []
synonym: "Primary Supratentorial Neoplasms" EXACT []
synonym: "Supratentorial Neoplasm" EXACT []
synonym: "Supratentorial Tumor" EXACT []
synonym: "Supratentorial Tumors" EXACT []
xref: MESH:D015173
is_a: DOID:9007502 ! Brain Neoplasms

[Term]
id: DOID:9006538
name: Agricultural Workers' Diseases
def: "Diseases in persons engaged in cultivating and tilling soil, growing plants, harvesting crops, raising livestock, or otherwise engaged in husbandry and farming. The diseases are not restricted to farmers in the sense of those who perform conventional farm chores: the heading applies also to those engaged in the individual activities named above, as in those only gathering harvest or in those only dusting crops." [MESH:D000382]
synonym: "Agricultural Worker's Disease" EXACT []
synonym: "Agricultural Worker's Diseases" EXACT []
synonym: "Agricultural Worker Disease" EXACT []
synonym: "Agricultural Worker Diseases" EXACT []
synonym: "Agricultural Workers Disease" EXACT []
xref: MESH:D000382
xref: RDO:0004785
is_a: DOID:9005463 ! Occupational Diseases

[Term]
id: DOID:9006541
name: Chromosome 14q, Terminal Duplication
synonym: "Duplication 14qter" EXACT []
synonym: "Trisomy 14qter" EXACT []
xref: MESH:C538034
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9006542
name: Primary Autosomal Recessive Microcephaly 26
def: "Characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development. Caused by heterozygous mutation in the LMNB1 gene on chromosome 5q23." [MIM:619179]
synonym: "LMNB1-RELATED CONDITION" BROAD []
synonym: "MCPH26" EXACT []
synonym: "MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT" RELATED []
xref: MIM:619179
is_a: DOID:0070296 ! primary autosomal recessive microcephaly
created_by: mtutaj
creation_date: 2021-02-22T17:39:47Z

[Term]
id: DOID:9006543
name: Facial Palsy, Familial Recurrent Peripheral
alt_id: MIM:134200
xref: MESH:C565028
is_a: DOID:13934 ! facial paralysis

[Term]
id: DOID:9006544
name: Hypoglossia-Hypodactylia
alt_id: MIM:103300
synonym: "Aglossia-Adactylia" EXACT []
synonym: "Oromandibular Limb Hypoplasia" EXACT []
synonym: "Peromelia with Micrognathism" EXACT []
xref: MESH:C566308
is_a: DOID:9000066 ! Jaw Abnormalities
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9006545
name: Diabetic Bone Disease
def: "Pathophysiological condition(s) of bone(s), as a result of diabetes mellitus." []
synonym: "diabetic osteopathy" EXACT []
synonym: "diabetic osteoporosis" NARROW []
is_a: DOID:11476 ! osteoporosis
is_a: DOID:9002661 ! Diabetes Complications
created_by: slaulede
creation_date: 2018-09-27T12:09:56Z

[Term]
id: DOID:9006546
name: Refeeding Syndrome
def: "A condition of metabolic imbalance that is caused by complications of initially feeding a severely malnourished patient too aggressively. Usually occurring within the first 5 days of refeeding, this syndrome is characterized by WATER-ELECTROLYTE IMBALANCE; GLUCOSE INTOLERANCE; CARDIAC ARRHYTHMIAS; and DIARRHEA." [MESH:D055677]
xref: MESH:D055677
is_a: DOID:225 ! syndrome
is_a: DOID:9005695 ! Malnutrition

[Term]
id: DOID:9006547
name: Heart Neoplasms
def: "Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM." []
synonym: "Cardiac Carcinoma" EXACT []
synonym: "Cardiac Carcinomas" EXACT []
synonym: "cardiac neoplasm" EXACT []
synonym: "Cardiac Neoplasms" EXACT []
synonym: "cardiac tumor" EXACT []
synonym: "Cardiac Tumors" EXACT []
synonym: "Heart Neoplasm" EXACT []
synonym: "heart tumor" EXACT []
synonym: "heart tumors" EXACT []
synonym: "Intracavitary Tumors of the Heart" EXACT []
synonym: "Myocardial Tumor (Rhabdomyomas and Fibromas)" EXACT []
synonym: "Myocardial Tumors (Rhabdomyomas and Fibromas)" EXACT []
synonym: "Primary Cardiac Tumors, Childhood" EXACT []
synonym: "tumour of heart" EXACT []
xref: EFO:1001339
is_a: DOID:114 ! heart disease

[Term]
id: DOID:9006548
name: Gm2-Gangliosidosis, Variant B1
xref: MESH:C567601
xref: RDO:0015642
is_a: DOID:3320 ! Tay-Sachs disease

[Term]
id: DOID:9006549
name: Enterovirus Infections
def: "Diseases caused by ENTEROVIRUS." [MESH:D004769]
synonym: "Enterovirus Infection" EXACT []
synonym: "Enterovirus infectious disease" EXACT []
xref: EFO:0007255
xref: MESH:D004769
is_a: DOID:9003470 ! Picornaviridae Infections

[Term]
id: DOID:9006550
name: hepatosplenic schistosomiasis
def: "Hepatosplenic schistosomiasis refers to the major complication of chronic infection with Schistosoma mansoni, S japonicum and S mekongi, schistosomal portal hypertension. It is usually associated with enlargement of the liver and spleen, and reversible hepatosplenomegaly may occur in early infections. It is a chronic complication, which develops as a consequence of inflammatory response." [PMID:15626059, PMID:3522373]
synonym: "hepatic schistosomiasis" NARROW []
synonym: "HSS" EXACT []
is_a: DOID:1395 ! schistosomiasis
is_a: DOID:2529 ! splenic disease
is_a: DOID:9003155 ! Parasitic Liver Diseases
created_by: slaulede
creation_date: 2020-02-25T17:10:30Z

[Term]
id: DOID:9006551
name: Pseudohypoaldosteronism, Type IIB
alt_id: MIM:614491
alt_id: RDO:0013210
synonym: "PHA2B" EXACT []
synonym: "PSEUDOHYPOALDOSTERONISM TYPE 2B" EXACT []
xref: MESH:C564161
is_a: DOID:4479 ! pseudohypoaldosteronism

[Term]
id: DOID:9006552
name: Bacterial Endocarditis
alt_id: RDO:0005484
def: "Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." [MESH:D004697]
synonym: "Bacterial Endocarditides" EXACT []
xref: EFO:1000830
xref: MESH:D004697
is_a: DOID:10314 ! endocarditis
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:9003237 ! Cardiovascular Infections

[Term]
id: DOID:9006553
name: Hyperthermia
def: "An abnormal elevation of body temperature, usually as a result of inability to regulate core body temperature due to non-pathologic factors. (MESH)" []
synonym: "Hyperpyrexia" EXACT []
synonym: "Hyperpyrexias" EXACT []
xref: MESH:D000084462
is_a: DOID:9001103 ! Heat Stress Disorders
is_a: DOID:9008809 ! Body Temperature Changes
created_by: mtutaj
creation_date: 2021-02-19T15:42:39Z

[Term]
id: DOID:9006554
name: Pancreatic Cyst
def: "A true cyst of the PANCREAS, distinguished from the much more common PANCREATIC PSEUDOCYST by possessing a lining of mucous EPITHELIUM. Pancreatic cysts are categorized as congenital, retention, neoplastic, parasitic, enterogenous, or dermoid. Congenital cysts occur more frequently as solitary cysts but may be multiple. Retention cysts are gross enlargements of PANCREATIC DUCTS secondary to ductal obstruction. (From Bockus Gastroenterology, 4th ed, p4145)" [MESH:D010181]
synonym: "Pancreatic Cysts" EXACT []
xref: MESH:D010181
is_a: DOID:26 ! pancreas disease
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9006555
name: Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency
xref: MESH:C538648
is_a: DOID:3211 ! lysosomal storage disease

[Term]
id: DOID:9006556
name: Myeloproliferative Disease, Autosomal Recessive
alt_id: MIM:254700
xref: MESH:C564977
is_a: DOID:0070004 ! myeloid neoplasm

[Term]
id: DOID:9006557
name: Nervous System Neoplasms
def: "Benign and malignant neoplastic processes arising from or involving components of the central, peripheral, and autonomic nervous systems, cranial nerves, and meninges. Included in this category are primary and metastatic nervous system neoplasms." [MESH:D009423]
synonym: "neoplasm of nervous system" EXACT []
synonym: "Nervous System Neoplasm" EXACT []
synonym: "Nervous System Tumor" EXACT []
synonym: "nervous system tumors" EXACT []
synonym: "neural neoplasm" EXACT []
synonym: "neural tumor" EXACT []
synonym: "tumor of the nervous system" EXACT []
synonym: "tumors of the nervous system" EXACT []
xref: MESH:D009423
is_a: DOID:863 ! nervous system disease
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:9006559
name: Granulomatous Vasculitis
def: "Inflammation of any one of the blood vessels or lymphatic vessels in the body, featuring a granulomatous component." []
is_a: DOID:865 ! vasculitis

[Term]
id: DOID:9006560
name: Urofacial Syndrome 1
synonym: "HPSE2-RELATED CONDITION" EXACT []
synonym: "UFS1" EXACT []
synonym: "UROFACIAL SYNDROME TYPE 1" EXACT []
xref: MIM:236730
is_a: DOID:0050816 ! urofacial syndrome
created_by: rgd
creation_date: 2017-11-08T00:00:00Z

[Term]
id: DOID:9006561
name: Familial Myelofibrosis
synonym: "Myelofibrosis With Myeloid Metaplasia, Somatic" NARROW []
xref: MESH:C536848
xref: RDO:0002557
is_a: DOID:4971 ! myelofibrosis

[Term]
id: DOID:9006562
name: Choroidal Effusions
def: "Finding of fluid accumulation between the CHOROID and the SCLERA." [MESH:D000080324]
synonym: "Choroidal Detachment" EXACT []
synonym: "Ciliochoroidal Detachment" EXACT []
synonym: "Ciliochoroidal Effusions" EXACT []
synonym: "Suprachoroidal Space" EXACT []
xref: MESH:D000080324
is_a: DOID:1417 ! choroid disease
is_a: DOID:9008296 ! Eye Abnormalities
created_by: mtutaj
creation_date: 2020-01-30T14:46:15Z

[Term]
id: DOID:9006563
name: Spondyloepimetaphyseal Dysplasia, Shohat Type
synonym: "SEMDSH" EXACT []
synonym: "SEMD, Shohat Type" EXACT []
xref: MESH:C566523
xref: MIM:602557
xref: MONDO:0011252
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia

[Term]
id: DOID:9006564
name: Pyonephrosis
alt_id: RDO:0007604
def: "Distention of KIDNEY with the presence of PUS and suppurative destruction of the renal parenchyma. It is often associated with renal obstruction and can lead to total or nearly total loss of renal function." [MESH:D053018]
synonym: "Infected Hydronephrosis" EXACT []
xref: MESH:D053018
is_a: DOID:11111 ! hydronephrosis

[Term]
id: DOID:9006566
name: Harrod Doman Keele Syndrome
synonym: "Craniofacial digital genital anomalies" EXACT []
synonym: "Harrod syndrome" EXACT []
xref: MESH:C535635
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9006567
name: Methylmalonate Semialdehyde Dehydrogenase Deficiency
alt_id: MIM:614105
synonym: "MMSDHD" EXACT []
synonym: "MMSDH Deficiency" EXACT []
xref: MESH:C566402
xref: RDO:0014766
is_a: DOID:653 ! purine-pyrimidine metabolic disorder
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9006569
name: Osteolysis Hereditary Multicentric
alt_id: MIM:259600
synonym: "Al-Aqeel Sewairi syndrome" EXACT []
synonym: "MONA" EXACT []
synonym: "Multicentric Osteolysis, Nodulosis, and Arthropathy" EXACT []
synonym: "MULTICENTRIC OSTEOLYSIS-NODULOSIS-ARTHROPATHY (MONA) SPECTRUM DISORDERS" EXACT []
synonym: "NAO SYNDROME" EXACT []
synonym: "Nodulosis-Arthropathy-Osteolysis Syndrome" EXACT []
synonym: "Torg osteolysis syndrome" EXACT []
synonym: "Torg Syndrome" EXACT []
synonym: "Torg-Winchester syndrome" EXACT []
xref: MESH:C536051
xref: ORDO:371428
is_a: DOID:9006081 ! Osteolysis

[Term]
id: DOID:9006570
name: Sacroiliitis
def: "Inflammation of the SACROILIAC JOINT. It is characterized by lower back pain, especially upon walking, fever, UVEITIS; PSORIASIS; and decreased range of motion. Many factors are associated with and cause sacroiliitis including infection; injury to spine, lower back, and pelvis; DEGENERATIVE ARTHRITIS; and pregnancy." [MESH:D058566]
synonym: "Pyogenic Sacroiliitides" EXACT []
synonym: "Pyogenic Sacroiliitis" EXACT []
synonym: "Sacroiliitides" EXACT []
synonym: "Septic Sacroiliitides" EXACT []
synonym: "Septic Sacroiliitis" EXACT []
xref: MESH:D058566
is_a: DOID:848 ! arthritis

[Term]
id: DOID:9006571
name: Epidermodysplasia Verruciformis 3
synonym: "epidermodysplasia verruciformis, susceptibility to, 3" EXACT []
synonym: "EV3" EXACT []
xref: MIM:618267
is_a: DOID:13777 ! epidermodysplasia verruciformis
created_by: mtutaj
creation_date: 2019-02-12T12:20:36Z

[Term]
id: DOID:9006572
name: primary pulmonary hypertension 4
synonym: "PPH4" EXACT []
synonym: "Primary Pulmonary Hypertension, 4" EXACT []
xref: MIM:615344
is_a: DOID:14557 ! primary pulmonary hypertension
created_by: rgd
creation_date: 2015-07-07T00:00:00Z

[Term]
id: DOID:9006573
name: Familial Recurrent Dislocation of Patella
alt_id: MIM:169000
xref: MESH:C566816
is_a: DOID:9003279 ! Joint Dislocations
is_a: DOID:9005077 ! Joint Instability

[Term]
id: DOID:9006574
name: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES
def: "This disease is an autosomal recessive disorder characterized by global developmental delay and severely impaired intellectual development with aggressive behavior. Mild dysmorphic features and hypodontia are also present." [MIM:620270]
synonym: "NEDSM" EXACT []
xref: MIM:620270
is_a: DOID:543 ! dystonia
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:92 ! speech disorder
created_by: slaulede
creation_date: 2023-05-02T08:56:58Z

[Term]
id: DOID:9006575
name: Vitamin E Deficiency
def: "A nutritional condition produced by a deficiency of VITAMIN E in the diet, characterized by posterior column and spinocerebellar tract abnormalities, areflexia, ophthalmoplegia, and disturbances of gait, proprioception, and vibration. In premature infants vitamin E deficiency is associated with hemolytic anemia, thrombocytosis, edema, intraventricular hemorrhage, and increasing risk of retrolental fibroplasia and bronchopulmonary dysplasia. An apparent inborn error of vitamin E metabolism, named familial isolated vitamin E deficiency, has recently been identified. (Cecil Textbook of Medicine, 19th ed, p1181)" [MESH:D014811]
synonym: "Vitamin E Deficiencies" EXACT []
xref: MESH:D014811
is_a: DOID:9004644 ! Avitaminosis

[Term]
id: DOID:9006576
name: Generalized Thyroid Hormone Resistance, Autosomal Recessive
alt_id: MIM:274300
synonym: "GRTHR" EXACT []
xref: MESH:C567936
is_a: DOID:11633 ! thyroid hormone resistance syndrome

[Term]
id: DOID:9006577
name: Johnson Neuroectodermal Syndrome
alt_id: MIM:147770
synonym: "AADH syndrome" EXACT []
synonym: "Alopecia anosmia deafness hypogonadism syndrome" EXACT []
synonym: "Johnson-Mcmillin syndrome" EXACT []
xref: MESH:C535882
is_a: DOID:1924 ! hypogonadism
is_a: DOID:9001734 ! Neurocutaneous Syndromes
is_a: DOID:9004147 ! Anosmia
is_a: DOID:9008681 ! Deafness
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9006578
name: Thumb Agenesis, Short Stature, and Immunodeficiency
alt_id: MIM:274190
xref: MESH:C564770
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9006579
name: Auriculocondylar Syndrome 4
def: "A disease characterized by malformed ears, round face, puffy cheeks, micrognathia, microstomia, malocclusion, and abnormal mandibular condyles with temporomandibular joint abnormalities. Caused by heterozygosity for a tandem duplication within the HDAC9 gene on chromosome 7p21." [MIM:620457]
synonym: "ARCND4" EXACT []
xref: MIM:620457
is_a: DOID:9000208 ! Auriculocondylar Syndrome
created_by: mtutaj
creation_date: 2023-07-28T11:47:52Z

[Term]
id: DOID:9006581
name: Glycogen Storage Disease 0, Liver
alt_id: MIM:240600
synonym: "GSD 0a" EXACT []
synonym: "GSD0A" EXACT []
synonym: "Hypoglycemia With Deficiency Of Glycogen Synthetase In The Liver" EXACT []
synonym: "Liver Glycogen Synthase Deficiency" EXACT []
xref: MESH:C565485
is_a: DOID:2747 ! glycogen storage disease
is_a: DOID:409 ! liver disease

[Term]
id: DOID:9006582
name: Oculoskeletodental Syndrome
synonym: "CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES" EXACT []
synonym: "OCSKD" EXACT []
xref: MIM:618440
is_a: DOID:83 ! cataract
is_a: DOID:9001487 ! Facies
is_a: DOID:9009007 ! Tooth Abnormalities
created_by: mtutaj
creation_date: 2019-06-25T12:40:14Z

[Term]
id: DOID:9006584
name: Dilated Cardiomyopathy, Neutropenia, Skeletal Myopathy, and Abnormal Mitochondria
xref: MESH:C538496
is_a: DOID:0050476 ! Barth syndrome

[Term]
id: DOID:9006586
name: Neonatal Inflammatory Skin and Bowel Disease 2
synonym: "EGFR-RELATED CONDITION" BROAD []
synonym: "NISBD2" EXACT []
xref: MIM:616069
is_a: DOID:820 ! myocarditis
is_a: DOID:9008088 ! Neonatal Inflammatory Skin and Bowel Disease

[Term]
id: DOID:9006587
name: Gingival Fibromatosis 3
alt_id: MIM:609955
synonym: "GGF3" EXACT []
synonym: "GINGF3" EXACT []
synonym: "gingival fibromatosis, hereditary, 3" EXACT []
synonym: "HGF3" EXACT []
xref: MESH:C537928
is_a: DOID:0060466 ! gingival fibromatosis

[Term]
id: DOID:9006588
name: Trismus
def: "Spasmodic contraction of the masseter muscle resulting in forceful jaw closure. This may be seen with a variety of diseases, including TETANUS, as a complication of radiation therapy, trauma, or in association with neoplastic conditions." [MESH:D014313]
synonym: "Lock Jaw" EXACT []
synonym: "Lockjaw" EXACT []
synonym: "Masseter Muscle Spasm" EXACT []
synonym: "Masseter Muscle Spasms" EXACT []
synonym: "Masseter Spasm" EXACT []
synonym: "Masseter Spasms" EXACT []
xref: MESH:D014313
is_a: DOID:9006743 ! Spasm

[Term]
id: DOID:9006589
name: Birnaviridae Infections
def: "Virus diseases caused by the BIRNAVIRIDAE." [MESH:D018175]
synonym: "Birnaviridae Infection" EXACT []
xref: EFO:1001764
xref: MESH:D018175
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:9006590
name: Chondrocalcinosis 2
alt_id: MIM:118600
def: "This disease is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia); and a sporadic form, which may in some cases represent the hereditary form." [MIM:118600]
synonym: "ANKH-RELATED CONDITION" BROAD []
synonym: "Calcium Gout" EXACT []
synonym: "Calcium Pyrophosphate Arthropathy" EXACT []
synonym: "calcium pyrophosphate dihydrate deposition disease" EXACT []
synonym: "calcium pyrophosphate dihydrate deposition disease 2" EXACT []
synonym: "CCAL2" EXACT []
synonym: "CHONDROCALCINOSIS 2, SPORADIC" NARROW []
synonym: "CPPDD" EXACT []
synonym: "CPPDD2" EXACT []
synonym: "familial articular chondrocalcinosis" EXACT []
xref: MESH:C563162
is_a: DOID:1156 ! chondrocalcinosis

[Term]
id: DOID:9006591
name: Chromosome 15q, Trisomy
synonym: "Duplication 15q" EXACT []
synonym: "Trisomy 15q" EXACT []
xref: MESH:C538040
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9006592
name: Sjögren-Mikulicz Syndrome
synonym: "Sjogren-Mikulicz syndrome" EXACT []
xref: MESH:C536669
is_a: DOID:10301 ! parotitis
is_a: DOID:225 ! syndrome
is_a: DOID:7148 ! rheumatoid arthritis

[Term]
id: DOID:9006593
name: Bernard-Soulier Syndrome, Type B
synonym: "familial macrothrombocytopenia, Bernard-Soulier type" EXACT []
synonym: "Giant platelet disorder, isolated" EXACT []
xref: MESH:C565549
is_a: DOID:2217 ! Bernard-Soulier syndrome

[Term]
id: DOID:9006594
name: Cysteine Peptiduria
alt_id: MIM:219550
xref: MESH:C565659
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9006595
name: Chromosome 7, Monosomy 7q21
synonym: "Deletion 7q21" EXACT []
synonym: "Monosomy 7q21" EXACT []
xref: MESH:C537816
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9006596
name: Cayler Cardiofacial Syndrome
alt_id: MIM:125520
synonym: "ACF" EXACT []
synonym: "Asymmetric crying facies" EXACT []
synonym: "Cayler's syndrome" EXACT []
synonym: "Cayler syndrome" EXACT []
synonym: "Depressor Anguli Oris Muscle, Hypoplasia Of" EXACT []
synonym: "Partial unilateral facial paralysis" EXACT []
synonym: "Partial unilateral facial paresis" EXACT []
xref: MESH:C535349
is_a: DOID:13934 ! facial paralysis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006597
name: Retinal Dysplasia
def: "Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary." [MESH:D015792]
synonym: "Retinal Dysplasias" EXACT []
xref: MESH:D015792
is_a: DOID:5679 ! retinal disease
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9006598
name: Three M Syndrome 2
alt_id: MIM:612921
def: "3M syndrome-2 (3M2) is characterized by low birth weight and short stature, relative macrocephaly, lumbar hyperlordosis, and prominent heels. Dysmorphic facial features include triangular face with frontal bossing and midface hypoplasia, anteverted nares with fleshy nasal tip, and full fleshy lips. 3M2 is caused by homozygous or compound heterozygous mutation in the OBSL1 gene on chromosome 2q35. (OMIM)" []
synonym: "3M2" EXACT []
synonym: "3M SYNDROME 2" EXACT []
synonym: "OBSL1-RELATED CONDITION" EXACT []
xref: MESH:C567862
is_a: DOID:0060241 ! 3-M syndrome

[Term]
id: DOID:9006599
name: Hypertriglyceridemia
def: "A condition of elevated levels of TRIGLYCERIDES in the blood." [MESH:D015228]
synonym: "Hypertriglyceridemias" EXACT []
synonym: "Hypertriglyceridemia, Susceptibility To" RELATED []
xref: EFO:0004211
xref: MESH:D015228
is_a: DOID:1168 ! familial hyperlipidemia

[Term]
id: DOID:9006600
name: Calvarial Hyperostosis
alt_id: MIM:302030
synonym: "Isolated hyperostosis of the calvarium" EXACT []
xref: MESH:C537963
is_a: DOID:205 ! hyperostosis
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9006601
name: Wilms Tumor 4
alt_id: MIM:601363
synonym: "Familial Wilms Tumor 1" EXACT []
synonym: "FWT1" EXACT []
synonym: "WT4" EXACT []
xref: MESH:C563336
is_a: DOID:2154 ! nephroblastoma

[Term]
id: DOID:9006602
name: Distal Myopathy 5
def: "An autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. (OMIM)" []
synonym: "ADSS1-RELATED CONDITION" EXACT []
synonym: "MPD5" EXACT []
xref: MIM:617030
is_a: DOID:11720 ! distal myopathy

[Term]
id: DOID:9006603
name: Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies
xref: MIM:PS615419
is_a: DOID:9001343 ! Infantile Hypotonia with Psychomotor Retardation
is_a: DOID:9001487 ! Facies
created_by: mtutaj
creation_date: 2019-03-19T00:00:00Z

[Term]
id: DOID:9006604
name: Anhedonia
def: "Inability to experience pleasure due to impairment or dysfunction of normal psychological and neurobiological mechanisms. It is a symptom of many PSYCHOTIC DISORDERS (e.g., DEPRESSIVE DISORDER, MAJOR; and SCHIZOPHRENIA)." [MESH:D059445]
synonym: "Anhedonias" EXACT []
synonym: "Physical Anhedonia" EXACT []
synonym: "Physical Anhedonias" EXACT []
synonym: "Social Anhedonia" EXACT []
synonym: "Social Anhedonias" EXACT []
xref: MESH:D059445
is_a: DOID:9002320 ! Neurobehavioral Manifestations

[Term]
id: DOID:9006605
name: Familial Erythema Nodosum
alt_id: MIM:132990
xref: MESH:C535510
is_a: DOID:0080750 ! erythema nodosum

[Term]
id: DOID:9006606
name: Feline Acquired Immunodeficiency Syndrome
def: "Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (FIV) and in some cats infected with feline leukemia virus (FeLV)." [MESH:D016181]
synonym: "FAIDS" EXACT []
synonym: "Feline Acquired Immune Deficiency Syndrome" EXACT []
synonym: "Feline Acquired Immuno Deficiency Syndrome" EXACT []
synonym: "Feline AIDS" EXACT []
xref: MESH:D016181
is_a: DOID:225 ! syndrome
is_a: DOID:9004448 ! Slow Virus Diseases
is_a: DOID:9005091 ! Lentivirus Infections
is_a: DOID:9005924 ! Cat Diseases

[Term]
id: DOID:9006607
name: Hemifacial Spasm
alt_id: MIM:134300
def: "Recurrent clonic contraction of facial muscles, restricted to one side. It may occur as a manifestation of compressive lesions involving the seventh cranial nerve (FACIAL NERVE DISEASES), during recovery from BELL PALSY, or in association with other disorders. (From Adams et al., Principles of Neurology, 6th ed, p1378)" [MESH:D019569]
synonym: "Hemifacial Myokymia" EXACT []
synonym: "Hemifacial Spasms" EXACT []
synonym: "Unilateral Facial Spasm" EXACT []
synonym: "Unilateral Facial Spasms" EXACT []
xref: MESH:D019569
is_a: DOID:403 ! mouth disease
is_a: DOID:9006743 ! Spasm

[Term]
id: DOID:9006608
name: Lung Carcinoid Tumors
synonym: "carcinoid tumor of lung" EXACT []
synonym: "Lung Carcinoid Neoplasm" EXACT []
synonym: "Lung Carcinoid Tumor" EXACT []
synonym: "PCT" EXACT []
synonym: "pulmonary carcinoid neoplasm" EXACT []
synonym: "pulmonary carcinoid tumor" EXACT []
xref: EFO:1000037
xref: NCI:C4038
is_a: DOID:9005172 ! Lung Neoplasms
is_a: DOID:9007787 ! Carcinoid Tumor

[Term]
id: DOID:9006609
name: Trypsinogen Deficiency
xref: MIM:614044
xref: RDO:9000845
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9006610
name: Alpha-B Crystallinopathy with Cataract
synonym: "Desmin-Related Myopathy with Cataract" EXACT []
xref: MESH:C563849
xref: RDO:0013001
is_a: DOID:83 ! cataract
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9006611
name: Aquagenic Urticaria
xref: GARD:10901
xref: MIM:191850
xref: MONDO:0008632
is_a: DOID:1555 ! urticaria

[Term]
id: DOID:9006612
name: Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
synonym: "NEDHCS" EXACT []
synonym: "neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures" EXACT []
synonym: "PMRED" EXACT []
xref: MIM:614501
is_a: DOID:1826 ! epilepsy
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9006613
name: Trichophyton Infection
xref: MESH:C569516
is_a: DOID:8913 ! dermatophytosis

[Term]
id: DOID:9006614
name: Lower Extremity Deep Vein Thrombosis
def: "The formation or presence of a blood clot (THROMBUS) within a vein of the lower extremity." []
synonym: "deep vein thrombosis of leg" EXACT []
synonym: "deep vein thrombosis of lower limb" EXACT []
xref: RDO:9000094
is_a: DOID:9003871 ! Venous Thrombosis

[Term]
id: DOID:9006615
name: HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2
synonym: "HOMGSMR2" EXACT []
synonym: "Hypomagnesemia, Seizures, and Mental Retardation 2" EXACT []
xref: MIM:618314
is_a: DOID:9002857 ! HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY
created_by: rgd
creation_date: 2017-02-24T00:00:00Z

[Term]
id: DOID:9006616
name: Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies
synonym: "HYC2" EXACT []
synonym: "HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES" EXACT []
synonym: "MPDZ-RELATED CONDITION" EXACT []
synonym: "Nonsyndromic Hydrocephalus, Autosomal Recessive 2" EXACT []
xref: MIM:615219
is_a: DOID:10908 ! hydrocephalus

[Term]
id: DOID:9006617
name: Fatigue
def: "The state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli." [MESH:D005221]
synonym: "Lassitude" EXACT []
xref: MESH:D005221
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9006618
name: Liver Metastasis
def: "Transfer of a neoplasm from its primary site to the liver." []
synonym: "liver metastases" EXACT []
synonym: "metastatic liver disease" EXACT []
synonym: "secondary liver cancer" EXACT []
is_a: DOID:3571 ! liver cancer
is_a: DOID:9000965 ! Neoplasm Metastasis
created_by: gthayman
creation_date: 2019-07-24T12:29:01Z

[Term]
id: DOID:9006619
name: Epidermolysis Bullosa Dystrophica Neurotrophica
alt_id: MIM:226500
synonym: "EBR3" EXACT []
synonym: "epidermolysis bullosa progressiva, recessive" EXACT []
synonym: "epidermolysis bullosa with congenital deafness" EXACT []
xref: MESH:C562637
is_a: DOID:4959 ! epidermolysis bullosa dystrophica

[Term]
id: DOID:9006620
name: Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome
synonym: "EIF2AK1-related condition" BROAD []
synonym: "LEMSPAD" EXACT []
synonym: "LEMSPAD syndrome" EXACT []
xref: MIM:618878
is_a: DOID:9001722 ! Dysarthria
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9007428 ! Muscle Spasticity
created_by: slaulede
creation_date: 2020-07-10T10:46:26Z

[Term]
id: DOID:9006621
name: Noble Bass Sherman Syndrome
synonym: "Ectopia lentis chorioretinal dystrophy myopia" EXACT []
xref: MESH:C536124
xref: RDO:0001567
is_a: DOID:11830 ! myopia
is_a: DOID:1417 ! choroid disease
is_a: DOID:225 ! syndrome
is_a: DOID:8466 ! retinal degeneration
is_a: DOID:9004201 ! Ectopia Lentis

[Term]
id: DOID:9006622
name: Enterotoxemia
def: "Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." [MESH:D004767]
synonym: "Enterotoxemias" EXACT []
xref: EFO:1000922
xref: MESH:D004767
is_a: DOID:9004985 ! Animal Diseases
is_a: DOID:9006732 ! Clostridium Infections

[Term]
id: DOID:9006623
name: Murine Acquired Immunodeficiency Syndrome
def: "Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (MuLV). The syndrome shows striking similarities with human AIDS and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas." [MESH:D016183]
synonym: "MAIDS" EXACT []
synonym: "Murine Acquired Immune Deficiency Syndrome" EXACT []
synonym: "Murine Acquired Immuno Deficiency Syndrome" EXACT []
synonym: "Murine AIDS" EXACT []
xref: MESH:D016183
is_a: DOID:225 ! syndrome
is_a: DOID:9004886 ! Tumor Virus Infections
is_a: DOID:9004990 ! Rodent Diseases
is_a: DOID:9006644 ! Retroviridae Infections

[Term]
id: DOID:9006624
name: EVEN-PLUS SYNDROME
def: "A syndrome characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. (OMIM)" []
synonym: "EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS" EXACT []
synonym: "EVPLS" EXACT []
xref: MIM:616854
is_a: DOID:0080006 ! bone development disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001502 ! Congenital Microtia
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9006625
name: NEMO Mutation with Immunodeficiency
synonym: "NF-kappa B essential modulator (NEMO) mutation with immunodeficiency" EXACT []
xref: MESH:C538399
xref: RDO:0004376
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9006626
name: Parkinson's Disease 5
alt_id: RDO:0014499
synonym: "PARK5" EXACT []
synonym: "Parkinson's disease 5, autosomal dominant, susceptibility to" RELATED []
synonym: "Parkinson Disease 5" EXACT []
synonym: "Parkinson disease 5, autosomal dominant, susceptibility to" RELATED []
xref: MESH:C566017
xref: MIM:613643
is_a: DOID:14330 ! Parkinson's disease

[Term]
id: DOID:9006627
name: Cortical Blindness, Retardation, and Postaxial Polydactyly
alt_id: MIM:218010
xref: MESH:C565674
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11831 ! cortical blindness
is_a: DOID:9001487 ! Facies
is_a: DOID:9003071 ! Postaxial Polydactyly

[Term]
id: DOID:9006628
name: Cleidocranial Dysplasia 2
def: "A disease characterized by clavicular anomalies, ranging from unilateral 'clavicula bipartita' to bilateral clavicular aplasia, and dental anomalies, including delayed or absent eruption of deciduous teeth and supernumerary teeth. Caused by heterozygous mutation in the CBFB gene on chromosome 16q22." [MIM:620099]
synonym: "CCD2" EXACT []
synonym: "CLCD2" EXACT []
xref: MIM:620099
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2022-10-27T13:23:24Z

[Term]
id: DOID:9006629
name: Granddad Syndrome
alt_id: MIM:138920
synonym: "Growth Retardation, Aged Facies, Normal Development, Decreased Subcutaneous Fat, Autosomal Dominant Inheritance" EXACT []
xref: MESH:C564211
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9002231 ! Fetal Growth Retardation

[Term]
id: DOID:9006630
name: Stargardt Disease 1
synonym: "FFM" RELATED []
synonym: "fundus flavimaculatus" RELATED []
synonym: "GENERALIZED CHORIOCAPILLARIS DYSTROPHY" RELATED []
synonym: "Macular dystrophy with flecks type 1" EXACT []
synonym: "Stargardt disease, recessive" EXACT []
synonym: "STGD1" EXACT []
xref: MIM:248200
is_a: DOID:0050817 ! Stargardt disease
is_a: DOID:9008818 ! Retinal Dystrophy, Early Onset Severe

[Term]
id: DOID:9006631
name: Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain
alt_id: MIM:260970
xref: MESH:C564894
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9006632
name: Keratoconus Posticus Circumscriptus
alt_id: MIM:244600
xref: MESH:C536151
is_a: DOID:10126 ! keratoconus

[Term]
id: DOID:9006633
name: Chromosome 7, Trisomy 7p13 p12 2
synonym: "Duplication 7p13 p12.2" EXACT []
synonym: "Trisomy 7p13 p12 2" EXACT []
xref: MESH:C537820
xref: RDO:0003724
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9006635
name: Hyponatremia
alt_id: MIM:613508
def: "Deficiency of sodium in the blood; salt depletion. (Dorland, 27th ed)" [MESH:D007010]
synonym: "carbamazepine-induced hyponatremia" NARROW []
synonym: "Hyponatremias" EXACT []
synonym: "thiazide-induced hyponatremia" NARROW []
xref: EFO:0008349
xref: EFO:0009894
xref: EFO:0009895
xref: MESH:D007010
xref: RDO:0005862
is_a: DOID:9004004 ! Water-Electrolyte Imbalance

[Term]
id: DOID:9006636
name: Heartwater Disease
def: "A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM." [MESH:D006357]
xref: EFO:1000960
xref: MESH:D006357
is_a: DOID:10242 ! ehrlichiosis
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9006637
name: Schizencephaly
alt_id: MESH:C538514
alt_id: MIM:269160
def: "Cortical malformations characterized by grey matter-lined cleft or cyst that extends from the EPENDYMA often to the PIA MATER outer surface. The grey matter that lines the cleft is often POLYMICROGYRIA. It is associated with developmental delay, motor disturbance and seizures. Some patients with schizencephaly have mutations in the EMX2, SIX3, or SHH genes." [MESH:D065707]
synonym: "familial schizencephaly" EXACT []
synonym: "Schizencephalic Cleft" EXACT []
synonym: "schizencephalic clefts" EXACT []
synonym: "Schizencephalic Cyst" EXACT []
synonym: "schizencephalic cysts" EXACT []
synonym: "schizencephalies" EXACT []
xref: MESH:D065707
xref: NCI:C99056
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:9001684 ! Malformations of Cortical Development, Group III

[Term]
id: DOID:9006638
name: Sinus Tachycardia
def: "Simple rapid heartbeats caused by rapid discharge of impulses from the SINOATRIAL NODE, usually between 100 and 180 beats/min in adults. It is characterized by a gradual onset and termination. Sinus tachycardia is common in infants, young children, and adults during strenuous physical activities." [MESH:D013616]
synonym: "Sinus Tachycardias" EXACT []
xref: MESH:D013616
is_a: DOID:9000006 ! Supraventricular Tachycardia

[Term]
id: DOID:9006639
name: Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris
xref: MESH:C564819
xref: RDO:0013652
is_a: DOID:2732 ! Rothmund-Thomson syndrome

[Term]
id: DOID:9006642
name: Experimental Autoimmune Uveoretinitis
def: "An experimental animal model use for the study of retinitis combined with uveitis.  It is commonly induced with interphotoreceptor retinoid-binding protein (IRBP) (relapsing EAU) or retinal S-Antigen (monophasic EAU)." []
synonym: "EAU" EXACT []
xref: RDO:9000024
is_a: DOID:3612 ! retinitis
is_a: DOID:9005647 ! Experimental Autoimmune Uveitis

[Term]
id: DOID:9006643
name: Pseudofolliculitis Barbae
alt_id: MIM:612318
synonym: "Ingrown Hairs" EXACT []
synonym: "PFB" EXACT []
synonym: "Pili Incarnati" EXACT []
synonym: "Pseudofolliculitis Barbae, Susceptibility To" RELATED []
xref: MESH:C563016
xref: RDO:0012478
is_a: DOID:421 ! hair disease

[Term]
id: DOID:9006644
name: Retroviridae Infections
def: "Virus diseases caused by the RETROVIRIDAE." [MESH:D012192]
synonym: "Retroviridae Infection" EXACT []
synonym: "Retrovirus Infection" EXACT []
synonym: "Retrovirus Infections" EXACT []
xref: MESH:D012192
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:9006645
name: Parasitic Diseases, Animal
def: "Animal diseases caused by PARASITES." [MESH:D010273]
synonym: "Animal Parasitic Disease" EXACT []
synonym: "Animal Parasitic Infection" EXACT []
synonym: "Animal Parasitic Infections" EXACT []
xref: MESH:D010273
is_a: DOID:1398 ! parasitic infectious disease
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9006646
name: Metabolic Syndrome
def: "A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" []
synonym: "Cardiovascular Syndromes, Metabolic" EXACT []
synonym: "dysmetabolic syndrome X" EXACT []
synonym: "Insulin Resistance Syndrome X" EXACT []
synonym: "Metabolic Cardiovascular Syndrome" EXACT []
synonym: "METABOLIC SYNDROME, SUSCEPTIBILITY TO" RELATED []
synonym: "Metabolic Syndrome X" EXACT []
synonym: "Reaven syndrome X" EXACT []
synonym: "SIM1-ASSOCIATED METABOLIC SYNDROME" NARROW []
xref: EFO:0000195
xref: MESH:D024821
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:225 ! syndrome
is_a: DOID:9007692 ! Insulin Resistance

[Term]
id: DOID:9006647
name: Experimental Autoimmune Neuritis
def: "An experimental animal model for the demyelinating disease of GUILLAINE-BARRE SYNDROME. In the most frequently used protocol, animals are injected with a peripheral nerve tissue protein homogenate. After approximately 2 weeks the animals develop a neuropathy secondary to a T cell-mediated autoimmune response directed towards the MYELIN P2 PROTEIN in peripheral nerves. Pathologic findings include a perivascular accumulation of macrophages and T lymphocytes in the peripheral nervous system, similar to that seen in the Guillaine-Barre syndrome. (From Adams et al., Principles of Neurology, 6th ed, p1314; J Neuroimmunol 1998 Apr 1;84(1):40-52)" [MESH:D009444]
synonym: "EAN (Experimental Allergic Neuritis)" EXACT []
synonym: "EAN (Experimental Autoimmune Neuritis)" EXACT []
synonym: "Experimental Allergic Neuritis" EXACT []
synonym: "experimental autoimmune neuropathies" EXACT []
synonym: "experimental autoimmune neuropathy" EXACT []
xref: MESH:D009444
is_a: DOID:1803 ! neuritis
is_a: DOID:9000990 ! Experimental Nervous System Autoimmune Disease

[Term]
id: DOID:9006648
name: Hernandez Fragoso Syndrome
alt_id: MIM:601220
synonym: "osteoporosis and oculocutaneous hypopigmentation syndrome" EXACT []
synonym: "osteoporosis-oculocutaneous hypopigmentation syndrome" EXACT []
xref: MESH:C536062
is_a: DOID:11476 ! osteoporosis
is_a: DOID:225 ! syndrome
is_a: DOID:37 ! skin disease
is_a: DOID:5614 ! eye disease
is_a: DOID:9005660 ! Hypopigmentation

[Term]
id: DOID:9006649
name: Prolapse
def: "The protrusion of an organ or part of an organ into a natural or artificial orifice." [MESH:D011391]
synonym: "Prolapses" EXACT []
xref: MESH:D011391
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9006650
name: Anisocoria
alt_id: MIM:106240
def: "Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (IRIS DISEASES) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease." [MESH:D015875]
synonym: "Physiologic Anisocoria" EXACT []
synonym: "Pupil Diameter Unequal" EXACT []
synonym: "Pupillary Size Inequality" EXACT []
xref: MESH:D015875
is_a: DOID:238 ! pupil disease

[Term]
id: DOID:9006652
name: Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
synonym: "RPL13-RELATED CONDITION" EXACT []
synonym: "SEMDIST" EXACT []
xref: MIM:618728
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
created_by: mtutaj
creation_date: 2020-01-07T11:13:56Z

[Term]
id: DOID:9006653
name: Gastric Ischemia
def: "A hypoperfusion of the blood through the stomach caused by a pathologic constriction or obstruction of its blood vessels, or an absence of blood circulation." []
synonym: "hypoperfusion of the stomach" EXACT []
synonym: "stomach ischemia" EXACT []
is_a: DOID:326 ! ischemia
is_a: DOID:76 ! stomach disease
created_by: rgd
creation_date: 2017-06-26T00:00:00Z

[Term]
id: DOID:9006654
name: Familial Thoracic Aortic Aneurysm 9
synonym: "AAT9" EXACT []
synonym: "MFAP5-RELATED CONDITION" EXACT []
xref: MIM:616166
is_a: DOID:14004 ! thoracic aortic aneurysm

[Term]
id: DOID:9006655
name: GSD IV, Neuromuscular Form, Fatal Perinatal
xref: MESH:C565541
xref: RDO:0014149
is_a: DOID:2750 ! glycogen storage disease IV
is_a: DOID:440 ! neuromuscular disease

[Term]
id: DOID:9006656
name: Familial Hypokalemia
alt_id: MIM:241150
synonym: "familial hypokalemic alkalosis with specific renal tubulopathy" EXACT []
synonym: "Gullner Syndrome" EXACT []
xref: MESH:C562654
is_a: DOID:4500 ! hypokalemia
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9006657
name: Colon Diverticulum
def: "A pouch or sac opening from the COLON." [MESH:D004241]
synonym: "colon diverticula" EXACT []
synonym: "Colonic Diverticula" EXACT []
synonym: "colonic diverticulum" EXACT []
xref: EFO:1001296
xref: MESH:D004241
is_a: DOID:9001008 ! Diverticulum

[Term]
id: DOID:9006659
name: Nonpenetrating Wounds
def: "Injuries caused by impact with a blunt object where there is no penetration of the skin." [MESH:D014949]
synonym: "Blunt Injuries" EXACT []
synonym: "Blunt Injury" EXACT []
synonym: "Nonpenetrating Injuries" EXACT []
synonym: "Nonpenetrating Injury" EXACT []
synonym: "Nonpenetrating Wound" EXACT []
xref: MESH:D014949
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9006660
name: Tessadori-van Haaften Neurodevelopmental Syndrome 2
def: "This disease is characterized by poor overall growth, profound global developmental delay with absent speech, and characteristic dysmorphic facial features, including hypertelorism, abnormal nose, and wide mouth." [MIM:619759]
synonym: "TEVANED2" EXACT []
xref: MIM:619759
is_a: DOID:9008554 ! Tessadori-van Haaften Neurodevelopmental Syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: slaulede
creation_date: 2022-03-29T14:15:36Z

[Term]
id: DOID:9006661
name: Phagocytosis, Plasma-Related Defect in
alt_id: MIM:171100
xref: MESH:C566808
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9006662
name: Chromosome 1, Monosomy 1p
synonym: "Deletion 1p" EXACT []
synonym: "Monosomy 1p" EXACT []
xref: MESH:C535591
xref: RDO:0000809
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9006663
name: Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism
alt_id: MIM:601450
alt_id: RDO:0012608
xref: MESH:C563315
is_a: DOID:9001487 ! Facies
is_a: DOID:9005077 ! Joint Instability
is_a: DOID:9005560 ! Congenital Hip Dislocation

[Term]
id: DOID:9006664
name: Spastic Paraplegia 92, Autosomal Recessive
def: "A slowly progressive neurodegenerative disorder with onset of lower limb spasticity and gait abnormalities in the first (more common) or second decade of life. Caused by homozygous or compound heterozygous mutation in the FICD gene on chromosome 12q23." [MIM:620911]
synonym: "SPG92" EXACT []
xref: MIM:620911
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: tutajm
creation_date: 2024-08-19T11:25:38Z

[Term]
id: DOID:9006665
name: Arenavirus hemorrhagic fever
def: "This is a viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." [EFO:0007151]
synonym: "arenaviral hemorrhagic fever" EXACT []
xref: EFO:0007151
is_a: DOID:3944 ! Arenaviridae infectious disease
is_a: DOID:9007401 ! Viral Hemorrhagic Fevers
created_by: slaulede
creation_date: 2022-09-12T12:25:49Z

[Term]
id: DOID:9006666
name: Idiopathic Orthostatic Hypotension
xref: MESH:C544351
xref: RDO:0004624
is_a: DOID:9005649 ! Pure Autonomic Failure
is_a: DOID:9005950 ! Orthostatic Hypotension

[Term]
id: DOID:9006667
name: Dysosteosclerosis
alt_id: MIM:224300
xref: MESH:C562973
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:9006668
name: Frostbite
def: "Damage to tissues as the result of low environmental temperatures." [MESH:D005627]
synonym: "Frostbites" EXACT []
xref: EFO:0009527
xref: MESH:D005627
is_a: DOID:9001600 ! Wounds and Injuries
is_a: DOID:9001959 ! Cold Injury

[Term]
id: DOID:9006669
name: Thrombocytopenia 9
def: "An autosomal dominant condition characterized by low platelet counts in the absence of significant bleeding tendency. Caused by heterozygous mutation in the THPO gene on chromosome 3q27." [MIM:620478]
synonym: "THC9" EXACT []
synonym: "Thrombocytopenia, autosomal dominant 9" EXACT []
xref: MIM:620478
is_a: DOID:1588 ! thrombocytopenia
created_by: mtutaj
creation_date: 2023-09-01T09:13:59Z

[Term]
id: DOID:9006670
name: Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers
alt_id: MIM:601170
xref: MESH:C563378
is_a: DOID:0050557 ! congenital muscular dystrophy
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:9006671
name: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
def: "This disease is a neurodevelopmental disorder characterized by delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Affected individuals have global developmental delay with mildly impaired intellectual development and speech delay or learning disabilities." [MIM:619352]
synonym: "ATITHS" EXACT []
synonym: "childhood-onset ataxia, intention tremor, and hypotonia syndrome" EXACT []
xref: MIM:619352
is_a: DOID:9000495 ! Tremor
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2021-08-10T18:01:24Z

[Term]
id: DOID:9006672
name: Hemoglobin SC Disease
def: "One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." [MESH:D006450]
synonym: "Hb-S/Hb-C disease" EXACT []
synonym: "Hb SC disease" EXACT []
synonym: "hemoglobin SC diseases" EXACT []
synonym: "SC disease" EXACT []
synonym: "SC diseases" EXACT []
synonym: "sickle cell hemoglobin C disease" EXACT []
xref: EFO:1001797
xref: MESH:D006450
is_a: DOID:10923 ! sickle cell anemia

[Term]
id: DOID:9006673
name: AURONEURODENTAL SYNDROME
def: "This disease is an autosomal recessive disorder characterized by progressive high-frequency sensorineural hearing loss, mild proximal and axial muscle weakness, and dental anomalies." [OMIM:620830]
synonym: "ANDS" EXACT []
xref: OMIM:620830
is_a: DOID:9005532 ! Muscle Weakness
is_a: DOID:9008455 ! High-Frequency Hearing Loss
is_a: DOID:9009007 ! Tooth Abnormalities
created_by: slaulederkind
creation_date: 2024-07-09T11:04:30Z

[Term]
id: DOID:9006674
name: MHC CLASS II DEFICIENCY 4
def: "This disease is an autosomal recessive immunodeficiency characterized by the onset of recurrent, persistent infections from birth, resulting in failure to thrive. Infectious agents include bacteria, viruses, fungi, and protozoa, usually affecting the respiratory and gastrointestinal tract. Laboratory studies show decreased CD4+ T cells, hypogammaglobulinemia, an inverted CD4:CD8 ratio, and absence of MHC type II antigens (HLA-DR, -DQ, and DP) on the surface of antigen-presenting cells." [MIM:620817]
synonym: "BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D" EXACT []
synonym: "MHC2D4" EXACT []
xref: MIM:620817
is_a: DOID:5812 ! MHC class II deficiency
created_by: slaulederkind
creation_date: 2024-06-14T10:38:24Z

[Term]
id: DOID:9006675
name: Hyperparathyroidism 1
alt_id: MIM:145000
synonym: "familial isolated hyperparathyroidism" EXACT []
synonym: "familial parathyroid adenoma" EXACT []
synonym: "FIHP PARATHYROID ADENOMA, FAMILIAL" NARROW []
synonym: "HRPT1" EXACT []
synonym: "HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY" NARROW []
xref: MESH:C564166
is_a: DOID:11202 ! primary hyperparathyroidism

[Term]
id: DOID:9006676
name: Micronuclei, Chromosome-Defective
def: "Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes." [MESH:D048629]
synonym: "Chromosome-Defective Micronucleus" EXACT []
synonym: "Genotoxicant Induced Micronuclei" EXACT []
synonym: "Genotoxicant-Induced Micronucleus" EXACT []
xref: EFO:1001778
xref: MESH:D048629
xref: RDO:0007551
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9006677
name: Salcedo Syndrome
alt_id: MIM:256020
synonym: "focal segmental glomerulosclerosis 10" EXACT []
synonym: "FSGS10" EXACT []
synonym: "glomerular basement membrane disease, nail-patella syndrome type" EXACT []
synonym: "LMX1B-RELATED CONDITION" BROAD []
synonym: "nail patella like renal disease" EXACT []
xref: MESH:C537228
is_a: DOID:1312 ! focal segmental glomerulosclerosis
is_a: DOID:9467 ! nail-patella syndrome

[Term]
id: DOID:9006678
name: Somatic Colonic Adenocarcinoma
def: "An adenocarcinoma arising from the colon, caused by a somatic mutation.  Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." []
xref: RDO:9000696
is_a: DOID:234 ! colon adenocarcinoma

[Term]
id: DOID:9006679
name: Peripheral Cone Dystrophy
alt_id: MIM:609021
xref: MESH:C563813
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:9006680
name: Hyperventilation
def: "A pulmonary ventilation rate faster than is metabolically necessary for the exchange of gases. It is the result of an increased frequency of breathing, an increased tidal volume, or a combination of both. It causes an excess intake of oxygen and the blowing off of carbon dioxide." [MESH:D006985]
synonym: "hyperventilations" EXACT []
xref: MESH:D006985
is_a: DOID:9000575 ! Respiratory Signs and Symptoms
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:9006683
name: Congenital Adrenal Hyperplasia, Type 5
alt_id: MIM:202110
synonym: "17-alpha-hydroxylase deficiency" EXACT []
synonym: "17-ALPHA-HYDROXYLASE DEFICIENCY 17,20-LYASE DEFICIENCY, ISOLATED" RELATED []
synonym: "Adrenal hyperplasia, congenital due to 17-alpha-hydroxylase deficiency" EXACT []
synonym: "Adrenal Hyperplasia V" EXACT []
xref: MESH:C538237
is_a: DOID:0050811 ! congenital adrenal hyperplasia

[Term]
id: DOID:9006684
name: Inflammatory Breast Neoplasms
def: "Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." []
synonym: "inflammatory breast cancer" EXACT []
synonym: "Inflammatory Breast Cancer (IBC)" EXACT []
synonym: "Inflammatory Breast Cancers" EXACT []
synonym: "inflammatory breast neoplasm" EXACT []
xref: MESH:D058922
is_a: DOID:9008939 ! Breast Neoplasms

[Term]
id: DOID:9006685
name: Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 
synonym: "MSSGM1" EXACT []
xref: MIM:616033
is_a: DOID:9008578 ! Microcephaly, Short Stature, and Impaired Glucose Metabolism

[Term]
id: DOID:9006686
name: Rajab Interstitial Lung Disease with Brain Calcifications 1
synonym: "DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS" EXACT []
synonym: "FARSB-RELATED CONDITION" EXACT []
synonym: "NEDBLLA" EXACT []
synonym: "NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES" EXACT []
synonym: "RILDBC1" EXACT []
xref: MIM:613658
is_a: DOID:10907 ! microcephaly
is_a: DOID:9001942 ! Rajab Interstitial Lung Disease with Brain Calcifications
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9006687
name: Annular Erythema
alt_id: MIM:106500
xref: MESH:C562461
xref: MONDO:0007128
is_a: DOID:9006976 ! Erythema
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9006689
name: Neural Tube Defects X-Linked
alt_id: MIM:301410
alt_id: RDO:0001992
synonym: "Anencephaly-Spina Bifida" EXACT []
xref: MESH:C536410
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0080074 ! neural tube defect

[Term]
id: DOID:9006690
name: Vitelliform Macular Dystrophy 5
def: "A disease characterized by late-onset moderate visual impairment, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculopathy (EOG). (OMIM)" []
synonym: "MACULAR DYSTROPHY, RETINAL, 5" EXACT []
synonym: "MACULOPATHY, IMPG2-RELATED" EXACT []
synonym: "VMD5" EXACT []
xref: MIM:616152
xref: MONDO:0014509
is_a: DOID:0050661 ! vitelliform macular dystrophy
created_by: rgd
creation_date: 2017-05-04T00:00:00Z

[Term]
id: DOID:9006691
name: Erysipelothrix Infections
def: "Infections with bacteria of the genus ERYSIPELOTHRIX." [MESH:D004889]
synonym: "Erysipelothrix Infection" EXACT []
synonym: "Erysipelothrix infectious disease" EXACT []
xref: EFO:1000927
xref: MESH:D004889
xref: MONDO:0006751
is_a: DOID:9002823 ! Gram-Positive Bacterial Infections
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9006692
name: Hutterite Cerebroosteonephrodysplasia Syndrome
synonym: "Cerebroosteonephrosis syndrome" EXACT []
synonym: "Congenital shortness with mild spondylorhizomelic dwarfism" EXACT []
xref: MESH:C536074
xref: MIM:236450
xref: MONDO:0009358
is_a: DOID:1184 ! nephrotic syndrome
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9006693
name: ALAD-Deficiency Porphyria
alt_id: MIM:612740
synonym: "acute hepatic porphyria" EXACT []
synonym: "ADP" EXACT []
synonym: "ALAD Deficiency" EXACT []
synonym: "ALA-dehydratase deficient porphyria" EXACT []
synonym: "ALAD porphyria" EXACT []
synonym: "Delta-Aminolevulinate Dehydratase Deficiency" EXACT []
synonym: "Doss Porphyria" EXACT []
synonym: "LEAD POISONING, SUSCEPTIBILITY TO" RELATED []
synonym: "Porphobilinogen Synthase Deficiency" EXACT []
synonym: "PORPHYRIA, ACUTE HEPATIC" EXACT []
synonym: "PORPHYRIA, ACUTE HEPATIC, DIGENIC" NARROW []
xref: MESH:C562618
xref: NCI:C133887
is_a: DOID:3133 ! acute porphyria
is_a: DOID:9005584 ! Hepatic Porphyrias

[Term]
id: DOID:9006694
name: Sacrococcygeal Dysgenesis Association
xref: MESH:C537225
xref: RDO:0003015
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9006695
name: Orbital Margin, Hypoplasia of
alt_id: MIM:165600
xref: MESH:C563490
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9006696
name: Spastic Paraplegia with Myoclonic Epilepsy
alt_id: MIM:270805
xref: MESH:C564810
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9005154 ! Myoclonic Epilepsies

[Term]
id: DOID:9006697
name: Congenital Hepatic Fibrosis
def: "A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts. (NCI)" []
synonym: "Congenital Fibrose Liver" EXACT []
xref: MESH:C562378
xref: NCI:C97071
is_a: DOID:5082 ! liver cirrhosis
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9006698
name: Vaginal Neoplasms
def: "Tumors or cancer of the VAGINA." [MESH:D014625]
synonym: "neoplasm of vagina" EXACT []
synonym: "Vaginal Neoplasm" EXACT []
synonym: "vaginal tumor" EXACT []
synonym: "Vagina Neoplasm" EXACT []
synonym: "vagina neoplasms" EXACT []
xref: EFO:1001447
xref: MESH:D014625
is_a: DOID:121 ! vaginal disease
is_a: DOID:9007399 ! Female Genital Neoplasms

[Term]
id: DOID:9006699
name: Abnormal Fusion of Dental Cementum with Alveolar Bone
synonym: "Molar I reinclusion" EXACT []
synonym: "Secondary retention of permanent molars" EXACT []
xref: MESH:C536375
is_a: DOID:12661 ! tooth ankylosis

[Term]
id: DOID:9006700
name: APOLIPOPROTEIN A-II DEFICIENCY
xref: MIM:107670
is_a: DOID:3146 ! lipid metabolism disorder
created_by: rgd
creation_date: 2017-01-11T00:00:00Z

[Term]
id: DOID:9006701
name: Reproductive Tract Infections
alt_id: RDO:0010047
def: "Infections of the genital tract in females or males. They can be caused by endogenous, iatrogenic, or sexually transmitted organisms." [MESH:D060737]
synonym: "Genital Tract Infection" EXACT []
synonym: "Genital Tract Infections" EXACT []
synonym: "Reproductive Tract Infection" EXACT []
xref: MESH:D060737
is_a: DOID:229 ! female reproductive system disease
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:9006703
name: Microcephaly Microcornea Syndrome Seemanova Type
alt_id: RDO:0003398
xref: MESH:C537539
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:7400 ! Nijmegen breakage syndrome

[Term]
id: DOID:9006704
name: Schlegelberger Grote Syndrome
synonym: "Syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear" EXACT []
synonym: "Triphalangeal thumbs thrombocytopathy deafness" EXACT []
xref: MESH:C536635
xref: RDO:0002272
is_a: DOID:2219 ! Glanzmann's thrombasthenia
is_a: DOID:225 ! syndrome
is_a: DOID:9005835 ! Congenital Abnormalities
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9006705
name: Immunodeficiency 95
def: "An autosomal recessive disorder characterized predominantly by the onset of recurrent and severe viral respiratory infections in infancy or early childhood. Caused by homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24." [MIM:619773]
synonym: "HEREDITARY PREDISPOSITION TO INFECTIONS" BROAD []
synonym: "IMD95" EXACT []
xref: MIM:619773
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2022-03-08T11:26:50Z

[Term]
id: DOID:9006706
name: Rasmussen Johnsen Thomsen Syndrome
alt_id: MIM:133705
synonym: "EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS" EXACT []
synonym: "Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance" EXACT []
xref: MESH:C535290
is_a: DOID:225 ! syndrome
is_a: DOID:9588 ! encephalitis

[Term]
id: DOID:9006707
name: Hypomandibular Faciocranial Dysostosis
alt_id: MIM:241310
xref: MESH:C537154
is_a: DOID:2339 ! Crouzon syndrome

[Term]
id: DOID:9006708
name: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE
def: "This disease is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis. Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age" [MIM:620126]
synonym: "autosomal recessive pseudohypoaldosteronism type IB3" EXACT []
synonym: "PHA1B3" EXACT []
xref: MIM:620126
is_a: DOID:0060854 ! autosomal recessive pseudohypoaldosteronism type 1
created_by: slaulede
creation_date: 2023-03-02T12:22:04Z

[Term]
id: DOID:9006709
name: Primary Graft Dysfunction
def: "A form of ischemia-reperfusion injury occurring in the early period following transplantation. Significant pathophysiological changes in MITOCHONDRIA are the main cause of the dysfunction. It is most often seen in the transplanted lung, liver, or kidney and can lead to GRAFT REJECTION." [MESH:D055031]
xref: MESH:D055031
is_a: DOID:9004009 ! Reperfusion Injury
is_a: DOID:9004283 ! Transplant Rejection

[Term]
id: DOID:9006711
name: Epidermolysis Bullosa Pruriginosa
alt_id: MIM:604129
synonym: "DEB, PRURIGINOSA" EXACT []
synonym: "Dystrophic Epidermolysis Bullosa Pruriginosa" EXACT []
synonym: "epidermolysis bullosa pruriginosa, autosomal dominant" NARROW []
synonym: "epidermolysis bullosa pruriginosa, autosomal recessive" NARROW []
xref: MESH:C563192
is_a: DOID:4959 ! epidermolysis bullosa dystrophica

[Term]
id: DOID:9006712
name: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
def: "A disease characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity." [MIM:618527]
synonym: "Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies" EXACT []
synonym: "IKSHD" EXACT []
xref: MIM:618527
is_a: DOID:1697 ! ichthyosis
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2019-09-12T15:38:31Z

[Term]
id: DOID:9006713
name: Spinocerebellar Ataxia 27B
def: "An autosomal dominant neurodegenerative disorder characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties). Caused by a heterozygous trinucleotide repeat expansion (GAAn) in the FGF14 gene on chromosome 13q33." [MIM:620174]
synonym: "SCA27B" EXACT []
synonym: "Spinocerebellar ataxia 27B, late-onset" EXACT []
xref: MIM:620174
is_a: DOID:0050976 ! spinocerebellar ataxia type 27
created_by: mtutaj
creation_date: 2023-01-04T13:32:32Z

[Term]
id: DOID:9006714
name: Crumpled Helices and Small Mouth
alt_id: MIM:605945
synonym: "Sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay" EXACT []
xref: MESH:C536217
is_a: DOID:674 ! cleft palate
is_a: DOID:9001487 ! Facies
is_a: DOID:9005616 ! Micrognathism
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9006715
name: Filoviridae Infections
def: "Infections with viruses of the family FILOVIRIDAE. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown." [MESH:D018702]
synonym: "Filoviridae Infection" EXACT []
xref: EFO:0007273
xref: MESH:D018702
is_a: DOID:9007829 ! Mononegavirales Infections

[Term]
id: DOID:9006716
name: Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity
def: "An autosomal recessive disorder characterized by severe to profound global developmental delay, early-onset seizures, microcephaly, and polymicrogyria and/or cerebral atrophy on brain imaging." [MIM:618730]
synonym: "NEDMCMS" EXACT []
synonym: "VANDERVORE-SCHOT SYNDROME" EXACT []
xref: MIM:618730
is_a: DOID:10907 ! microcephaly
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007428 ! Muscle Spasticity
created_by: slaulede
creation_date: 2020-02-14T13:19:24Z

[Term]
id: DOID:9006717
name: Ascending Aortic Aneurysm, Hypertelorism, Bifid Uvula, Cleft Palate, and Arterial Tortuosity
xref: MESH:C531732
xref: RDO:0000152
is_a: DOID:0050466 ! Loeys-Dietz syndrome

[Term]
id: DOID:9006718
name: Banki Syndrome
alt_id: MIM:109300
xref: MESH:C566228
is_a: DOID:11971 ! synostosis
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9006719
name: Bethlem Myopathy 1B
def: "A congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. Caused by heterozygous mutation in the COL6A2 gene on chromosome 21q22." [MIM:620725]
synonym: "BTHLM1B" EXACT []
xref: MIM:620725
xref: MONDO:0958233
is_a: DOID:0050663 ! Bethlem myopathy
created_by: tutajm
creation_date: 2024-03-18T10:49:40Z

[Term]
id: DOID:9006720
name: CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY
def: "This disease is a benign skin lesion that presents as an indurated, slightly pigmented or flesh-colored plaque with perifollicular papules or coarse hair. Histopathologically, there is excessive proliferation of ectopic smooth muscle within the dermis. Rarely, CSMH is associated with hemihypertrophy." [MIM:620470]
synonym: "CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC" EXACT []
synonym: "CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC" NARROW []
synonym: "CSMH" EXACT []
xref: MIM:620470
is_a: DOID:9006221 ! smooth muscle hamartoma
created_by: slaulede
creation_date: 2023-09-12T13:01:16Z

[Term]
id: DOID:9006721
name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
alt_id: MIM:618820
def: "A disease characterized by variable genitourinary anomalies, including disorders of sex differentiation, and brain abnormalities ranging from agenesis of the corpus callosum to anencephaly." [MIM:618820]
synonym: "GUBS" EXACT []
synonym: "PPP1R12A-RELATED CONDITION" EXACT []
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9006534 ! Nervous System Malformations
created_by: slaulede
creation_date: 2020-07-13T10:39:08Z

[Term]
id: DOID:9006722
name: Malocclusion, Angle Class II
def: "Malocclusion in which the mandible is posterior to the maxilla as reflected by the relationship of the first permanent molar (distoclusion)." [MESH:D008312]
synonym: "Angle Class II" EXACT []
synonym: "Angle Class II, Division 1" EXACT []
synonym: "Angle Class II, Division 2" EXACT []
synonym: "Class II Malocclusion, Division 1" EXACT []
synonym: "Class II Malocclusion, Division 2" EXACT []
synonym: "Malocclusion, Angle Class II, Division 1" EXACT []
synonym: "Malocclusion, Angle Class II, Division 2" EXACT []
xref: MESH:D008312
is_a: DOID:9000121 ! Malocclusion

[Term]
id: DOID:9006723
name: Osteopenic Nonfracture Syndrome
xref: MESH:C567172
is_a: DOID:12347 ! osteogenesis imperfecta
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006724
name: Phlebectasia of Lips
alt_id: MIM:171450
xref: MESH:C566806
is_a: DOID:9297 ! lip disease

[Term]
id: DOID:9006725
name: Glucocorticoid Deficiency 2
alt_id: MIM:607398
synonym: "Familial Glucocorticoid Deficiency 2" EXACT []
synonym: "FGD2" EXACT []
synonym: "GCCD2" EXACT []
synonym: "MRAP-RELATED CONDITION" EXACT []
xref: MESH:C564577
is_a: DOID:0080620 ! familial glucocorticoid deficiency
is_a: DOID:9008622 ! Adrenal Insufficiency

[Term]
id: DOID:9006726
name: Bent Bone Dysplasia Syndrome 2
def: "A disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft. Caused by compound heterozygous mutation in the LAMA5 gene on chromosome 20q13." [MIM:620076]
synonym: "BBDS2" EXACT []
synonym: "LAMA5-RELATED CONDITION" BROAD []
xref: MIM:620076
xref: MONDO:0859573
is_a: DOID:9006314 ! Bent Bone Dysplasia Syndrome
created_by: mtutaj
creation_date: 2022-10-17T08:07:32Z

[Term]
id: DOID:9006727
name: Polydipsia
def: "Excessive thirst manifested by excessive fluid intake. It is characteristic of many diseases such as DIABETES MELLITUS; DIABETES INSIPIDUS; and NEPHROGENIC DIABETES INSIPIDUS. The condition may be psychogenic in origin." [MESH:D059606]
synonym: "Polydipsias" EXACT []
xref: MESH:D059606
is_a: DOID:9000071 ! Signs and Symptoms
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9006728
name: Triple Negative Breast Neoplasms
def: "Breast neoplasms that do not express ESTROGEN RECEPTORS; PROGESTERONE RECEPTORS; and do not overexpress the NEU RECEPTOR/HER-2 PROTO-ONCOGENE PROTEIN." [MESH:D064726]
synonym: "ER Negative PR Negative HER2 Negative Breast Cancer" EXACT []
synonym: "ER negative PR negative HER2 negative breast neoplasms" EXACT []
synonym: "Triple Negative Breast Cancer" EXACT []
synonym: "Triple-Negative Breast Cancers" EXACT []
synonym: "triple negative breast neoplasm" EXACT []
xref: MESH:D064726
is_a: DOID:9008939 ! Breast Neoplasms

[Term]
id: DOID:9006729
name: Congenital Disorder of Glycosylation Type IIbb
def: "An autosomal recessive disorder characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings. Caused by homozygous mutation in the COG3 gene on chromosome 13q14." [MIM:620546]
synonym: "CDG2BB" EXACT []
synonym: "CDG IIbb" EXACT []
synonym: "CDGIIBB" EXACT []
xref: MIM:620546
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
created_by: tutajm
creation_date: 2023-10-24T13:33:16Z

[Term]
id: DOID:9006730
name: Paraneoplastic Endocrine Syndromes
alt_id: RDO:0004722
def: "Syndromes resulting from inappropriate production of HORMONES or hormone-like materials by NEOPLASMS in non-endocrine tissues or not by the usual ENDOCRINE GLANDS. Such hormone outputs are called ectopic hormone (HORMONES, ECTOPIC) secretion." [MESH:D009384]
synonym: "Ectopic Hormone Syndrome" EXACT []
synonym: "Ectopic Hormone Syndromes" EXACT []
synonym: "Paraneoplastic Endocrine Syndrome" EXACT []
xref: MESH:D009384
is_a: DOID:9007199 ! Paraneoplastic Syndromes
is_a: DOID:9007803 ! Endocrine Gland Neoplasms

[Term]
id: DOID:9006731
name: Hyperlactatemia
def: "Increase in blood LACTATE concentration often associated with SEPTIC SHOCK; LUNG INJURY; SEPSIS; and DRUG TOXICITY. When hyperlactatemia is associated with low body pH (acidosis) it is LACTIC ACIDOSIS." [MESH:D065906]
synonym: "Hyperlactatemias" EXACT []
xref: MESH:D065906
is_a: DOID:0014667 ! disease of metabolism
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9006732
name: Clostridium Infections
def: "Infections with bacteria of the genus CLOSTRIDIUM." [MESH:D003015]
synonym: "Clostridium Infection" EXACT []
synonym: "Clostridium infectious disease" EXACT []
synonym: "commensal Clostridium infectious disease" EXACT []
xref: EFO:1000874
xref: MESH:D003015
is_a: DOID:9002823 ! Gram-Positive Bacterial Infections

[Term]
id: DOID:9006733
name: Stomatognathic System Abnormalities
def: "Congenital structural abnormalities of the mouth and jaws, including the dentition." [MESH:D018640]
synonym: "stomatognathic system abnormality" EXACT []
xref: MESH:D018640
is_a: DOID:9001349 ! Stomatognathic Diseases
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9006734
name: Dowling-Degos Disease 1
synonym: "DDD1" EXACT []
xref: MIM:179850
is_a: DOID:0060256 ! Dowling-Degos disease
created_by: mtutaj
creation_date: 2022-10-03T12:21:29Z

[Term]
id: DOID:9006735
name: Overriding Aorta
synonym: "dextraposition of aorta" EXACT []
is_a: DOID:520 ! aortic disease

[Term]
id: DOID:9006736
name: Gingival Fibromatosis with Hypertrichosis and Mental Retardation
alt_id: MIM:605400
xref: MESH:C565331
is_a: DOID:0060466 ! gingival fibromatosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:420 ! hypertrichosis
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9006737
name: Monoclonal B-Cell Lymphocytosis
xref: EFO:0006889
xref: RDO:9000381
is_a: DOID:9001779 ! Lymphocytosis
created_by: rgd
creation_date: 2016-03-15T00:00:00Z

[Term]
id: DOID:9006738
name: Hypertension Resistant to Conventional Therapy
synonym: "treatment-resistant hypertension" EXACT []
xref: EFO:1002006
xref: MESH:C563514
is_a: DOID:10763 ! hypertension
is_a: DOID:11840 ! coronary artery vasospasm

[Term]
id: DOID:9006740
name: Nathalie Syndrome
xref: MESH:C538342
xref: MIM:255990
xref: MONDO:0009721
is_a: DOID:225 ! syndrome
is_a: DOID:767 ! muscular atrophy
is_a: DOID:83 ! cataract
is_a: DOID:9006161 ! Osteochondritis
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9006741
name: Acute Hepatitis
def: "Inflammation of the liver with abrupt onset and lasting for less than 6 months." []
is_a: DOID:2237 ! hepatitis

[Term]
id: DOID:9006742
name: GSD IV, Nonprogressive Hepatic
xref: MESH:C565540
xref: RDO:0014148
is_a: DOID:2750 ! glycogen storage disease IV
is_a: DOID:409 ! liver disease

[Term]
id: DOID:9006743
name: Spasm
def: "An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE." [MESH:D013035]
synonym: "Ciliary Body Spasm" EXACT []
synonym: "Ciliary Body Spasms" EXACT []
synonym: "Generalized Spasm" EXACT []
synonym: "Generalized Spasms" EXACT []
synonym: "Muscle Spasm" EXACT []
synonym: "Muscle Spasms" EXACT []
synonym: "Muscular Spasm" EXACT []
synonym: "Muscular Spasms" EXACT []
synonym: "Spasms" EXACT []
xref: MESH:D013035
is_a: DOID:9000165 ! Neuromuscular Manifestations

[Term]
id: DOID:9006744
name: Familial Lichen Planus
alt_id: MIM:151620
xref: MESH:C563624
is_a: DOID:9201 ! lichen planus

[Term]
id: DOID:9006746
name: Familial Cryptotia
alt_id: MIM:123557
xref: MESH:C565140
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9006749
name: Renal Cell Carcinoma, Xp11-Associated
synonym: "RCCX1" EXACT []
xref: MIM:300854
xref: RDO:9000493
is_a: DOID:4450 ! renal cell carcinoma

[Term]
id: DOID:9006750
name: Familial Thoracic Aortic Aneurysm 7
synonym: "AAT7" EXACT []
synonym: "AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM" EXACT []
xref: MIM:613780
is_a: DOID:14004 ! thoracic aortic aneurysm

[Term]
id: DOID:9006751
name: Bellini Chiumello Rimoldi Syndrome
xref: MESH:C535652
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9006753
name: Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3
synonym: "Neurosensory nonsyndromic dominant deafness 1" EXACT []
xref: MESH:C538200
xref: RDO:0004143
is_a: DOID:0060140 ! cortical deafness

[Term]
id: DOID:9006754
name: Marfanoid Mental Retardation Syndrome, Autosomal
alt_id: MIM:248770
synonym: "marfanoid habitus and intellectual disability" EXACT []
xref: MESH:C565410
is_a: DOID:1059 ! intellectual disability
is_a: DOID:14323 ! Marfan syndrome
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9006755
name: LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME
alt_id: MIM:308940
synonym: "Alport Syndrome And Diffuse Leiomyomatosis" EXACT []
synonym: "Alport syndrome with diffuse leiomyomatosis" EXACT []
synonym: "ATS-DL" EXACT []
synonym: "CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME" EXACT []
synonym: "Diffuse leiomyomatosis in Alport syndrome" EXACT []
synonym: "Leiomyomatosis, Esophageal and Vulval, with Nephropathy" EXACT []
xref: MESH:C537113
is_a: DOID:10983 ! Alport syndrome
is_a: DOID:5138 ! leiomyomatosis

[Term]
id: DOID:9006757
name: Pachydermodactyly, Familial
alt_id: MIM:600356
xref: MESH:C563947
is_a: DOID:0050871 ! fibroma

[Term]
id: DOID:9006758
name: Osteomas of Mandible
alt_id: MIM:166400
xref: MESH:C563485
is_a: DOID:9004412 ! Osteoma
is_a: DOID:9005446 ! Mandibular Neoplasms

[Term]
id: DOID:9006759
name: Non Opposable Triphalangeal Thumb
alt_id: MIM:190600
synonym: "nonopposable triphalangeal thumb" EXACT []
xref: MESH:C536562
is_a: DOID:9001425 ! Triphalangeal Thumb

[Term]
id: DOID:9006760
name: Testicular Anomalies with or without Congenital Heart Disease
synonym: "TACHD" EXACT []
xref: MIM:615542
xref: RDO:9000988
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9003766 ! 46, XY Disorders of Sex Development

[Term]
id: DOID:9006761
name: Prostate Cancer, Hereditary, 5
alt_id: MIM:609299
synonym: "HPC5" EXACT []
xref: MESH:C563744
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9006762
name: Down Syndrome Critical Region
xref: MESH:C566023
xref: RDO:0014504
is_a: DOID:14250 ! Down syndrome

[Term]
id: DOID:9006763
name: Stickler Syndrome, Type I, Nonsyndromic Ocular
alt_id: MIM:609508
alt_id: RDO:0012898
synonym: "atypical Stickler Syndrome" EXACT []
synonym: "DRRD" NARROW []
synonym: "rhegmatogenous retinal detachment, autosomal dominant" NARROW []
synonym: "Stickler Syndrome type I, predominantly ocular" EXACT []
xref: MESH:C563709
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9006764
name: Accelerated Idioventricular Rhythm
def: "A type of automatic, not reentrant, ectopic ventricular rhythm with episodes lasting from a few seconds to a minute which usually occurs in patients with acute myocardial infarction or with DIGITALIS toxicity. The ventricular rate is faster than normal but slower than tachycardia, with an upper limit of 100 -120 beats per minute. Suppressive therapy is rarely necessary." [MESH:D016170]
synonym: "Accelerated Idioventricular Rhythms" EXACT []
synonym: "AIVR" EXACT []
synonym: "Slow Ventricular Tachycardia" EXACT []
synonym: "Slow Ventricular Tachycardias" EXACT []
xref: MESH:D016170
xref: RDO:0006942
is_a: DOID:9005141 ! Ventricular Tachycardia

[Term]
id: DOID:9006766
name: Palant Cleft Palate Syndrome
alt_id: MIM:260150
synonym: "Unusual facies, cleft palate, mental retardation, and limb abnormalities" EXACT []
xref: MESH:C538102
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9001487 ! Facies
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9006767
name: Complete Agenesis of Diaphragm
xref: MESH:C564189
is_a: DOID:9009073 ! Diaphragmatic Hernia

[Term]
id: DOID:9006768
name: Beaulieu-Boycott-Innes Syndrome
synonym: "BBIS" EXACT []
synonym: "microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations" EXACT []
synonym: "THOC6-RELATED CONDITION" EXACT []
xref: MIM:613680
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9006769
name: Presentey Anomaly
alt_id: MIM:261500
synonym: "eosinophil peroxidase deficiency" EXACT []
synonym: "EPXD" EXACT []
synonym: "partial eosinophil peroxidase deficiency" EXACT []
synonym: "Peroxidase and Phospholipid Deficiency in Eosinophils" EXACT []
xref: MESH:C564893
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9006770
name: Atrial Tachyarrhythmia with Short PR Interval
xref: MESH:C566237
is_a: DOID:9002554 ! Tachycardia

[Term]
id: DOID:9006771
name: Chronic Rhinosinusitis
def: "Chronic inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES, having a slow progressive course of indefinite duration." []
synonym: "chronic rhinosinusitis without nasal polyps" NARROW []
xref: EFO:1000024
xref: EFO:1002030
is_a: DOID:9005941 ! Rhinosinusitis

[Term]
id: DOID:9006772
name: Ciliophora Infections
def: "Infections with protozoa of the phylum CILIOPHORA." [MESH:D016770]
synonym: "Ciliophora Infection" EXACT []
xref: MESH:D016770
xref: RDO:0004973
is_a: DOID:2789 ! parasitic protozoa infectious disease

[Term]
id: DOID:9006775
name: Polymicrogyria with Optic Nerve Hypoplasia
synonym: "CDCBM8" RELATED []
synonym: "complex cortical dysplasia with other brain malformations 8" RELATED []
xref: MESH:C567715
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations

[Term]
id: DOID:9006777
name: Neonatal Intractable Myoclonus
def: "A severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. (OMIM)" []
synonym: "KIF5A-RELATED INTRACTABLE NEONATAL MYOCLONUS" EXACT []
synonym: "NEIMY" EXACT []
xref: MIM:617235
is_a: DOID:9007722 ! Myoclonus

[Term]
id: DOID:9006778
name: Carotid Atherosclerosis
def: "A thickening and loss of elasticity of the walls of carotid arteries that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." []
synonym: "Atherosclerotic Disease of the Carotid Artery" EXACT []
synonym: "carotid atheroscleroses" EXACT []
xref: EFO:0009783
xref: RDO:9000061
is_a: DOID:13001 ! carotid stenosis
is_a: DOID:1936 ! atherosclerosis

[Term]
id: DOID:9006779
name: Discoid Lupus Erythematosus
def: "A chronic form of CUTANEOUS LUPUS ERYTHEMATOSUS in which the skin lesions mimic those of the systemic form but in which systemic signs are rare. It is characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy. Lesions are surrounded by an elevated erythematous border. The condition typically involves the face and scalp, but widespread dissemination may occur." [MESH:D008179]
synonym: "Lupus Erythematosus, Chronic Cutaneous" EXACT []
xref: MESH:D008179
is_a: DOID:0050169 ! cutaneous lupus erythematosus

[Term]
id: DOID:9006780
name: Genito Palato Cardiac Syndrome
alt_id: MIM:231060
synonym: "Gardner-Silengo-Wachtel syndrome" EXACT []
synonym: "Genitopalatocardiac syndrome" EXACT []
synonym: "Male pseudohermaphroditism with micrognathia, cleft palate and conotruncal cardiac defect" EXACT []
xref: MESH:C537683
is_a: DOID:14448 ! 46,XY sex reversal
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9005616 ! Micrognathism

[Term]
id: DOID:9006781
name: Cutaneous Fistula
def: "An abnormal passage or communication leading from an internal organ to the surface of the body." [MESH:D017577]
synonym: "Cutaneous Fistulas" EXACT []
synonym: "External Fistula" EXACT []
synonym: "External Fistulas" EXACT []
synonym: "Skin Fistula" EXACT []
synonym: "Skin Fistulas" EXACT []
xref: MESH:D017577
xref: RDO:0007059
is_a: DOID:37 ! skin disease
is_a: DOID:9007343 ! Fistula

[Term]
id: DOID:9006782
name: Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1
synonym: "OIEDS1" EXACT []
synonym: "OIEDS syndrome 1" EXACT []
xref: MIM:619115
is_a: DOID:9008741 ! Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome
created_by: mtutaj
creation_date: 2020-12-11T14:52:42Z

[Term]
id: DOID:9006783
name: Young Syndrome
alt_id: MIM:279000
synonym: "Azoospermia, obstructive, and chronic sinopulmonary infections" EXACT []
synonym: "Azoospermia sinopulmonary infections" EXACT []
synonym: "Barry-Perkins-Young syndrome" EXACT []
synonym: "MALE INFERTILITY DUE TO OBSTRUCTIVE AZOOSPERMIA" NARROW []
synonym: "Sinusitis-infertility syndrome" EXACT []
xref: MESH:C536718
is_a: DOID:14228 ! oligospermia
is_a: DOID:225 ! syndrome
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:9006784
name: Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy
xref: MESH:C566379
is_a: DOID:381 ! arthropathy
is_a: DOID:9001627 ! Pathologic Constriction
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9006786
name: Ankle Fractures
def: "Fractures of any of the bones of the ANKLE." [MESH:D064386]
synonym: "Ankle Fracture" EXACT []
synonym: "Bimalleolar Ankle Fracture" EXACT []
synonym: "Bimalleolar Ankle Fractures" EXACT []
synonym: "Bimalleolar Equivalent Ankle Fractures" EXACT []
synonym: "Bimalleolar Equivalent Fracture" EXACT []
synonym: "Bimalleolar Equivalent Fractures" EXACT []
synonym: "Bimalleolar Fracture" EXACT []
synonym: "Bimalleolar Fractures" EXACT []
synonym: "Lateral Malleolus Fracture" EXACT []
synonym: "Lateral Malleolus Fractures" EXACT []
synonym: "Medial Malleolus Fracture" EXACT []
synonym: "Medial Malleolus Fractures" EXACT []
synonym: "Posterior Malleolus Fracture" EXACT []
synonym: "Posterior Malleolus Fractures" EXACT []
synonym: "Trimalleolar Ankle Fracture" EXACT []
synonym: "Trimalleolar Ankle Fractures" EXACT []
synonym: "Trimalleolar Fracture" EXACT []
synonym: "Trimalleolar Fractures" EXACT []
xref: EFO:0009615
xref: MESH:D064386
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9006787
name: Professional Burnout
def: "An excessive stress reaction to one's occupational or professional environment. It is manifested by feelings of emotional and physical exhaustion coupled with a sense of frustration and failure." [MESH:D002055]
xref: MESH:D002055
is_a: DOID:9005463 ! Occupational Diseases

[Term]
id: DOID:9006788
name: Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis
synonym: "CTEPH, DVT-NEGATIVE, SUSCEPTIBILITY TO" EXACT []
synonym: "Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis, Susceptibility To" EXACT []
xref: MIM:612862
is_a: DOID:6432 ! pulmonary hypertension
is_a: DOID:9477 ! pulmonary embolism

[Term]
id: DOID:9006789
name: External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation
xref: MESH:C566509
xref: RDO:0014843
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:9000066 ! Jaw Abnormalities
is_a: DOID:9005219 ! Abnormal Reflexes
is_a: DOID:9005660 ! Hypopigmentation

[Term]
id: DOID:9006790
name: Idiopathic Subglottic Tracheal Stenosis
xref: MESH:C536283
xref: RDO:0001801
is_a: DOID:3227 ! tracheal stenosis

[Term]
id: DOID:9006791
name: Hypogonadotropic Hypogonadism 27 without Anosmia
def: "A hypogonadotropic hypogonadism characterized by lack of pubertal development associated with onset of obesity in early adolescence. Caused by homozygous mutation in the NHLH2 gene on chromosome 1p31." [MIM:619755]
synonym: "HH27" EXACT []
xref: MIM:619755
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
created_by: mtutaj
creation_date: 2022-02-21T13:13:55Z

[Term]
id: DOID:9006792
name: Hypertensive Intracranial Hemorrhage
def: "Bleeding within the SKULL that is caused by systemic HYPERTENSION, usually in association with INTRACRANIAL ARTERIOSCLEROSIS. Hypertensive hemorrhages are most frequent in the BASAL GANGLIA; CEREBELLUM; PONS; and THALAMUS; but may also involve the CEREBRAL CORTEX, subcortical white matter, and other brain structures." [MESH:D020299]
synonym: "Cerebral Hypertensive Hemorrhage" EXACT []
synonym: "Cerebral Hypertensive Hemorrhages" EXACT []
synonym: "Hypertensive Intracerebral Hemorrhage" EXACT []
synonym: "Hypertensive Intracerebral Hemorrhages" EXACT []
synonym: "Hypertensive Intracranial Hemorrhages" EXACT []
xref: MESH:D020299
is_a: DOID:9003104 ! Intracranial Hemorrhages

[Term]
id: DOID:9006793
name: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME
def: "A multisystem disorder with clinical variability. Affected individuals show cognitive and motor disabilities, as well as some degree of fine, brittle hair with microscopic shaft abnormalities. Other shared features include failure to thrive in early childhood and short stature." [MIM:618891]
synonym: "MDBH" EXACT []
xref: MIM:618891
is_a: DOID:10907 ! microcephaly
is_a: DOID:421 ! hair disease
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2020-08-03T14:24:54Z

[Term]
id: DOID:9006794
name: Prostate Cancer, Hereditary, 15
alt_id: MIM:611959
synonym: "HPC15" EXACT []
xref: MESH:C567447
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9006795
name: Acid-Base Imbalance
def: "Disturbances in the ACID-BASE EQUILIBRIUM of the body." [MESH:D000137]
synonym: "Acid-Base Imbalances" EXACT []
xref: MESH:D000137
is_a: DOID:0014667 ! disease of metabolism

[Term]
id: DOID:9006796
name: Gastrointestinal Neoplasms
def: "Tumors or cancer of the GASTROINTESTINAL TRACT, from the MOUTH to the ANAL CANAL." [MESH:D005770]
synonym: "Gastrointestinal Cancer" EXACT []
synonym: "Gastrointestinal Cancers" EXACT []
synonym: "Gastrointestinal Neoplasm" EXACT []
xref: MESH:D005770
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9004351 ! Digestive System Neoplasms

[Term]
id: DOID:9006798
name: Pechet Factor Deficiency
alt_id: MIM:169200
synonym: "Dynia Factor Deficiency" EXACT []
xref: MESH:C566814
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:9006799
name: CHOPS Syndrome
def: "This is a multiple congenital anomaly syndrome with delayed psychomotor development with intellectual disability, short stature, obesity, variable dysmorphic facial features (round face, proptosis, hypertelorism, thick eyebrows and hair, long eyelashes, short nose and downturned corners of the mouth), heart defects, increased chance of chronic lung disease, skeletal defects such as brachydactyly, gastroesophageal reflux." [EFO:0009031]
synonym: "AFF4-RELATED CONDITION" EXACT []
synonym: "CHOPS" EXACT []
synonym: "cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia" EXACT []
synonym: "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome" EXACT []
xref: EFO:0009031
xref: MIM:616368
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1561 ! cognitive disorder
is_a: DOID:1681 ! heart septal defect
is_a: DOID:225 ! syndrome
is_a: DOID:850 ! lung disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9006800
name: Peritoneal Panniculitis
def: "INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS." [MESH:D015436]
synonym: "Liposclerotic Mesenteritis" EXACT []
synonym: "Mesenteric Lipodystrophy" EXACT []
synonym: "Mesenteric Panniculitis" EXACT []
synonym: "Mesenteric Weber Christian Disease" EXACT []
synonym: "Omental Panniculitis" EXACT []
synonym: "Retractile Mesenteritis" EXACT []
synonym: "Sclerosing Mesenteritis" EXACT []
xref: EFO:1001384
xref: MESH:D015436
is_a: DOID:1526 ! panniculitis
is_a: DOID:9006175 ! Peritoneal Diseases

[Term]
id: DOID:9006801
name: Elejalde Disease
alt_id: MIM:256710
synonym: "Elejalde neuroectodermal melanolysosomal syndrome" EXACT []
synonym: "Elejalde syndrome" EXACT []
synonym: "Melanolysosomal neurocutaneous syndrome" EXACT []
synonym: "Neuroectodermal melanolysosomal disease" EXACT []
synonym: "Neuro-ectodermal melanolysosomal syndrome" EXACT []
xref: MESH:C536203
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9001734 ! Neurocutaneous Syndromes

[Term]
id: DOID:9006802
name: Attenuated Familial Adenomatous Polyposis
alt_id: RDO:0004223
synonym: "AFAP" EXACT []
synonym: "FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED" EXACT []
xref: MESH:C538265
is_a: DOID:0050424 ! familial adenomatous polyposis

[Term]
id: DOID:9006803
name: DYSKERATOSIS CONGENITA, DIGENIC
def: "This disease is characterized clinically by a combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia. Telomeres are shortened in patient cells." [MIM:620040]
synonym: "digenic dyskeratosis congenita" EXACT []
synonym: "DKCD" EXACT []
xref: MIM:620040
xref: MONDO:0031057
is_a: DOID:2729 ! dyskeratosis congenita
created_by: slaulede
creation_date: 2022-12-06T12:20:32Z

[Term]
id: DOID:9006804
name: CD8 Deficiency, Familial
alt_id: MIM:608957
xref: MESH:C563824
xref: RDO:0012985
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9006805
name: Iris Neoplasms
alt_id: DOID:6994
def: "Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." []
synonym: "Iris Neoplasm" EXACT []
synonym: "Iris Neoplasms" EXACT []
xref: MESH:D015811
is_a: DOID:240 ! iris disease
is_a: DOID:9007031 ! Uveal Neoplasms

[Term]
id: DOID:9006806
name: Pseudo-TORCH Syndrome 3
synonym: "PTORCH3" EXACT []
xref: MIM:618886
is_a: DOID:2914 ! immune system disease
is_a: DOID:9002061 ! Pseudo-TORCH Syndrome
created_by: mtutaj
creation_date: 2020-05-27T10:51:19Z

[Term]
id: DOID:9006807
name: Congenital Pulmonary Alveolar Proteinosis
xref: MESH:C535832
is_a: DOID:12120 ! pulmonary alveolar proteinosis

[Term]
id: DOID:9006809
name: Specific Granule Deficiency 2
synonym: "SGD2" EXACT []
synonym: "SMARCD2-RELATED CONDITION" EXACT []
xref: MIM:617475
is_a: DOID:9000265 ! Specific Granule Deficiency
created_by: mtutaj
creation_date: 2019-03-26T08:31:01Z

[Term]
id: DOID:9006810
name: Drug-Related Side Effects and Adverse Reactions
def: "Disorders that result from the intended use of PHARMACEUTICAL PREPARATIONS. Included in this heading are a broad variety of chemically-induced adverse conditions due to toxicity, DRUG INTERACTIONS, and metabolic effects of pharmaceuticals." [MESH:D064420]
synonym: "adverse drug event" EXACT []
synonym: "adverse drug events" EXACT []
synonym: "Adverse Drug Reaction" EXACT []
synonym: "Adverse Drug Reactions" EXACT []
synonym: "antidepressant-induced dizziness" NARROW []
synonym: "Brain pseudoatrophy, reversible, valproate-induced, susceptibility to" RELATED []
synonym: "Drug Side Effect" EXACT []
synonym: "Drug Side Effects" EXACT []
synonym: "Drug Toxicities" EXACT []
synonym: "drug toxicity" EXACT []
synonym: "side effects of drugs" EXACT []
xref: EFO:0006321
xref: EFO:0020003
xref: MESH:D064420
is_a: DOID:9008261 ! Chemically-Induced Disorders

[Term]
id: DOID:9006811
name: Congenital Alacrima
alt_id: MIM:103420
alt_id: MIM:601549
synonym: "Alacrimia Congenita" EXACT []
synonym: "alacrimia congenita, autosomal dominant" NARROW []
synonym: "congenital alacrima, autosomal dominant" NARROW []
synonym: "congenital alacrima, autosomal recessive" NARROW []
xref: MESH:C566307
is_a: DOID:1400 ! lacrimal apparatus disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9006812
name: Transient Neonatal Cyanosis
alt_id: RDO:9000262
synonym: "TNCY" EXACT []
xref: MIM:613977
is_a: DOID:9000781 ! Cyanosis

[Term]
id: DOID:9006813
name: Hunt's Syndrome
synonym: "Myoclonus and Ataxia" EXACT []
synonym: "Ramsay Hunt Syndrome type 2" EXACT []
xref: MESH:C535287
is_a: DOID:12707 ! myoclonic cerebellar dyssynergia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006814
name: Gingival Neoplasms
def: "New abnormal growth of tissue in the GINGIVA." []
synonym: "Gingival Neoplasm" EXACT []
xref: MESH:D005887
is_a: DOID:1483 ! gingival disease
is_a: DOID:9007364 ! Mouth Neoplasms

[Term]
id: DOID:9006815
name: Otorhinolaryngologic Neoplasms
def: "A general concept for tumors or cancer of any part of the EAR; the NOSE; the THROAT; and the PHARYNX. It is used when there is no specific heading." [MESH:D010039]
synonym: "Ootorhinolaryngeal Neoplasm" EXACT []
synonym: "Ootorhinolaryngeal Neoplasms" EXACT []
synonym: "Otorhinolaryngeal Cancer" EXACT []
synonym: "Otorhinolaryngeal Cancers" EXACT []
synonym: "Otorhinolaryngological Neoplasm" EXACT []
synonym: "Otorhinolaryngological Neoplasms" EXACT []
synonym: "Otorhinolaryngologic Neoplasm" EXACT []
xref: MESH:D010039
xref: RDO:0005424
is_a: DOID:9006169 ! Head and Neck Neoplasms
is_a: DOID:9007241 ! Otorhinolaryngologic Diseases

[Term]
id: DOID:9006816
name: Functional Hearing Loss
alt_id: RDO:0005720
def: "Hearing loss without a physical basis. Often observed in patients with psychological or behavioral disorders." [MESH:D006315]
synonym: "Nonorganic Hearing Loss" EXACT []
synonym: "Psychogenic Hearing Loss" EXACT []
xref: MESH:D006315
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9006817
name: Hamamy Syndrome
alt_id: MIM:611174
synonym: "HMMS" EXACT []
synonym: "severe hypertelorism with midface prominence, myopia, intellectual disability, and bone fragility" EXACT []
synonym: "severe hypertelorism with midface prominence, myopia, mental retardation, and bone fragility" EXACT []
xref: MESH:C566988
xref: MONDO:0012634
xref: ORDO:314555
is_a: DOID:0080001 ! bone disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11830 ! myopia
is_a: DOID:225 ! syndrome
is_a: DOID:9003133 ! Hypertelorism

[Term]
id: DOID:9006818
name: Oocyte/Zygote/Embryo Maturation Arrest 15
synonym: "OZEMA15" EXACT []
synonym: "Preimplantation Embryonic Lethality 1" EXACT []
synonym: "PREMBL1" EXACT []
xref: MIM:616814
is_a: DOID:9004994 ! Embryo Loss
is_a: DOID:9007456 ! Female Infertility

[Term]
id: DOID:9006819
name: Anonychia with Flexural Pigmentation
alt_id: MIM:106750
xref: MESH:C566278
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9006820
name: Parkinson's Disease, X-Linked Dominant
synonym: "Parkinson Disease, X-Linked Dominant" EXACT []
synonym: "X-linked dominant Parkinson's disease" EXACT []
synonym: "X-linked dominant Parkinson disease" EXACT []
xref: RDO:9000400
is_a: DOID:14330 ! Parkinson's disease
created_by: rgd
creation_date: 2016-01-15T00:00:00Z

[Term]
id: DOID:9006821
name: Skraban-Deardorff Syndrome
def: "A syndromic neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip. (OMIM)" []
synonym: "INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES" EXACT []
synonym: "SKDEAS" EXACT []
synonym: "WDR26-RELATED CONDITION" EXACT []
xref: MIM:617616
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2017-12-07T00:00:00Z

[Term]
id: DOID:9006822
name: Blue Nevi, Familial Multiple
alt_id: MIM:603670
xref: MESH:C566346
is_a: DOID:9001740 ! Blue Nevus

[Term]
id: DOID:9006823
name: Echovirus Infections
alt_id: RDO:0005435
def: "Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses." [MESH:D004457]
synonym: "Echo Virus Infection" EXACT []
synonym: "Echovirus Infection" EXACT []
synonym: "Echo Virus Infections" EXACT []
synonym: "echovirus infectious disease" EXACT []
xref: EFO:0007247
xref: MESH:D004457
is_a: DOID:9006549 ! Enterovirus Infections

[Term]
id: DOID:9006824
name: 46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy
alt_id: MIM:607080
synonym: "GDMN" EXACT []
xref: MESH:C567773
is_a: DOID:1389 ! polyneuropathy
is_a: DOID:14448 ! 46,XY sex reversal

[Term]
id: DOID:9006825
name: Imerslund-Grasbeck Syndrome
synonym: "IGS" EXACT []
xref: MIM:PS261100
is_a: DOID:0050731 ! vitamin B12 deficiency
is_a: DOID:13382 ! megaloblastic anemia
is_a: DOID:576 ! proteinuria
is_a: DOID:9002984 ! Malabsorption Syndromes
created_by: mtutaj
creation_date: 2020-07-28T11:40:36Z

[Term]
id: DOID:9006826
name: Pascual Castroviejo Syndrome
synonym: "Hemangiomas, and cutaneous and intracranial vascular deformations" EXACT []
xref: MESH:C536302
xref: RDO:0001829
is_a: DOID:225 ! syndrome
is_a: DOID:255 ! hemangioma
is_a: DOID:9007502 ! Brain Neoplasms
is_a: DOID:916 ! liver benign neoplasm

[Term]
id: DOID:9006827
name: Lung Reperfusion Injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the lung, including swelling; hemorrhage; necrosis; and damage from free radicals." []
synonym: "Lung Ischemia-Reperfusion Injury" EXACT []
is_a: DOID:9000310 ! Lung Injury
is_a: DOID:9004009 ! Reperfusion Injury

[Term]
id: DOID:9006828
name: Congenital Hyperinsulinism
def: "A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8)." [MESH:D044903]
synonym: "Familial Hyperinsulinism" EXACT []
synonym: "familial hyperinsulinisms" EXACT []
synonym: "KCNT2-RELATED CONDITION" NARROW []
synonym: "Neonatal Hyperinsulinism" EXACT []
synonym: "Neonatal Hyperinsulinisms" EXACT []
xref: MESH:D044903
xref: NCI:C131425
is_a: DOID:2018 ! hyperinsulinism
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9993 ! hypoglycemia

[Term]
id: DOID:9006829
name: Multiple Fibroadenomas of the Breast
alt_id: RDO:9000997
synonym: "MFAB" EXACT []
xref: MIM:615554
is_a: DOID:1618 ! breast fibroadenoma

[Term]
id: DOID:9006830
name: Chromosome 14q, Terminal Deletion
synonym: "Deletion 14qter" EXACT []
synonym: "Monosomy 14qter" EXACT []
xref: MESH:C538033
xref: RDO:0003967
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9006831
name: Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria
xref: MESH:C566880
is_a: DOID:10629 ! microphthalmia
is_a: DOID:10763 ! hypertension
is_a: DOID:9002554 ! Tachycardia

[Term]
id: DOID:9006832
name: Puromycin Aminonucleoside Nephrosis
def: "An experimental model of human minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS) generated by the dosing of rats with puromycin aminonucleoside. The resulting disease features proteinuria and podocyte ultrastructural changes." []
synonym: "PAN" EXACT []
synonym: "PAN nephrosis" EXACT []
is_a: DOID:2527 ! nephrosis
is_a: DOID:9008688 ! Podocyte Diseases

[Term]
id: DOID:9006833
name: Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
alt_id: MIM:204730
alt_id: RDO:0014460
xref: MESH:C565960
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11476 ! osteoporosis
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9252 ! amino acid metabolic disorder
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9006834
name: Glycosylphosphatidylinositol Deficiency
alt_id: MESH:C537277
synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT" EXACT []
synonym: "GPID" EXACT []
synonym: "PORTAL HYPERTENSION WITH SEIZURES AND/OR MACROCEPHALY GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY" EXACT []
is_a: DOID:1826 ! epilepsy
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:9006835
name: Cystic Mesothelioma
def: "A peritoneal mesothelioma affecting mainly young females and producing cysts of variable size and number lined by a single layer of benign mesothelial cells. The disease follows a benign course and is compatible with a normal life expectancy, requiring occasionally partial excision or decompression for relief of pain or other symptoms. Malignant potential is exceptional. (From Holland et al., Cancer Medicine, 3d ed, p1345)" [MESH:D018261]
synonym: "Cystic Mesotheliomas" EXACT []
xref: MESH:D018261
is_a: DOID:9003566 ! Mesothelioma

[Term]
id: DOID:9006836
name: Contracture
def: "Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." [MESH:D003286]
synonym: "Contractures" EXACT []
xref: EFO:0003899
xref: MESH:D003286
is_a: DOID:0080000 ! muscular disease
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:9006837
name: Myeloid Tumor Suppressor
synonym: "MLRL" EXACT []
synonym: "MYELOID LEUKEMIA-LOCUS" RELATED []
xref: MIM:601308
is_a: DOID:8692 ! myeloid leukemia

[Term]
id: DOID:9006838
name: Congenital Facial Diplegia
alt_id: RDO:0000164
xref: MESH:C531747
is_a: DOID:13501 ! Moebius syndrome

[Term]
id: DOID:9006839
name: Anastomotic Leak
def: "Breakdown of the connection and subsequent leakage of effluent (fluids, secretions, air) from a SURGICAL ANASTOMOSIS of the digestive, respiratory, genitourinary, and cardiovascular systems. Most common leakages are from the breakdown of suture lines in gastrointestinal or bowel anastomosis." [MESH:D057868]
synonym: "Anastomotic Leakage" EXACT []
synonym: "Anastomotic Leakages" EXACT []
synonym: "Anastomotic Leaks" EXACT []
xref: MESH:D057868
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9006840
name: Hypergastrinemia
def: "The presence of an excess of gastrin in the blood, commonly the result of gastrin-secreting tumors (gastrinomas)." []
is_a: DOID:620 ! blood protein disease
created_by: rgd
creation_date: 2015-07-08T00:00:00Z

[Term]
id: DOID:9006841
name: Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia
alt_id: MIM:604690
synonym: "ROCA Syndrome" EXACT []
synonym: "ROCA-Weidemann Syndrome" EXACT []
xref: MESH:C565755
xref: RDO:0014309
is_a: DOID:0060260 ! ptosis
is_a: DOID:10488 ! imperforate anus
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9006842
name: Granulomatous Uveitis
def: "A persistent eye inflammation with a grainy surface characterized by blurred vision, mild pain, eye tearing, and mild sensitivity to light." []
synonym: "chronic granulomatous uveitis" EXACT []
xref: RDO:9000052
is_a: DOID:13141 ! uveitis

[Term]
id: DOID:9006843
name: Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4
def: "A disease characterized by onset of proximal muscle weakness in young adulthood." [MIM:618129]
synonym: "autosomal dominant limb-girdle muscular dystrophy 4" EXACT []
synonym: "CAPN3-RELATED DISORDER" BROAD []
synonym: "LGMD1I" EXACT []
synonym: "LGMDD4" EXACT []
synonym: "limb-girdle muscular dystrophy type 1I" EXACT []
xref: MIM:618129
is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy
created_by: slaulede
creation_date: 2019-09-10T14:00:22Z

[Term]
id: DOID:9006844
name: Streptococcal Infections
def: "Infections with bacteria of the genus STREPTOCOCCUS." [MESH:D013290]
synonym: "Streptococcal Infection" EXACT []
xref: MESH:D013290
is_a: DOID:9002823 ! Gram-Positive Bacterial Infections

[Term]
id: DOID:9006845
name: Striatal Degeneration, Autosomal Dominant
xref: MESH:C563783
xref: MIM:PS609161
is_a: DOID:9002955 ! Nerve Degeneration
created_by: mtutaj
creation_date: 2019-03-15T00:00:00Z

[Term]
id: DOID:9006846
name: Dysuria
def: "Painful URINATION. It is often associated with infections of the lower URINARY TRACT." [MESH:D053159]
xref: EFO:0003901
xref: MESH:D053159
is_a: DOID:9003962 ! Lower Urinary Tract Symptoms

[Term]
id: DOID:9006847
name: fibula fractures
def: "These are traumatic or pathologic injuries to the fibula in which the continuity of the bone is broken." [EFO:0009613]
synonym: "fibula fracture" EXACT []
xref: EFO:0009613
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9008911 ! Leg Injuries
created_by: slaulede
creation_date: 2023-01-24T14:37:12Z

[Term]
id: DOID:9006848
name: Chromosome 10 Ring
xref: MESH:C538086
xref: RDO:0004020
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9006849
name: Phosphaturia
def: "An excess of phosphates in the urine." []
is_a: DOID:2485 ! phosphorus metabolism disease
is_a: DOID:9003919 ! Urination Disorders

[Term]
id: DOID:9006850
name: Chromosome Xp11.3 Deletion Syndrome
alt_id: MIM:300578
synonym: "Mental Retardation, X-Linked, With Retinitis Pigmentosa" EXACT []
xref: MESH:C564481
xref: RDO:0013427
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:225 ! syndrome
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9006851
name: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES
def: "This disease is an autosomal recessive disorder characterized by delayed developmental milestones apparent in late infancy or early childhood, impaired intellectual development with learning difficulties, and behavioral abnormalities. Motor abnormalities, including parkinsonism and spasticity, usually develop in the third or fourth decades." [MIM:620747]
synonym: "NEDPBA" EXACT []
xref: MIM:620747
is_a: DOID:13548 ! secondary Parkinson disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulederkind
creation_date: 2024-05-24T13:01:52Z

[Term]
id: DOID:9006852
name: Waldmann Disease
synonym: "Familial Waldmann's disease" EXACT []
synonym: "Primary intestinal lymphangiectasis" EXACT []
synonym: "Waldmann's disease" EXACT []
xref: MESH:C536567
xref: RDO:0002186
is_a: DOID:4977 ! lymphedema
is_a: DOID:9005821 ! Intestinal Lymphangiectasis

[Term]
id: DOID:9006853
name: Skin/Hair/Eye Pigmentation, Variation In, 8
alt_id: MIM:611724
synonym: "IRF4-RELATED CONDITION" EXACT []
synonym: "Shep8" EXACT []
synonym: "Skin-Hair-Eye Pigmentation 8, Freckling" EXACT []
xref: MESH:C567096
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9006854
name: MPTP Poisoning
def: "A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)" [MESH:D020267]
synonym: "MPTP Induced Degeneration of the Striatum" EXACT []
synonym: "MPTP Induced Parkinsonism" EXACT []
synonym: "MPTP Neurotoxicity Syndrome" EXACT []
synonym: "MPTP Neurotoxicity Syndromes" EXACT []
synonym: "Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine" EXACT []
xref: MESH:D020267
is_a: DOID:13548 ! secondary Parkinson disease
is_a: DOID:3602 ! toxic encephalopathy

[Term]
id: DOID:9006855
name: Dog Diseases
def: "Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used." [MESH:D004283]
synonym: "Canine Disease" EXACT []
synonym: "Canine Diseases" EXACT []
synonym: "Dog Disease" EXACT []
xref: MESH:D004283
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9006856
name: Glutamate Monosodium Sensitivity
alt_id: MIM:231630
synonym: "Chinese restaurant syndrome" EXACT []
xref: MESH:C562377
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9006857
name: Bartsocas-Papas Syndrome 2
def: "A severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations. Caused by homozygous mutation in the CHUK gene on chromosome 10q24. (OMIM)" []
synonym: "BPS2" EXACT []
synonym: "popliteal pterygium syndrome, Bartsocas-Papas type 2" EXACT []
xref: MIM:619339
is_a: DOID:0060055 ! popliteal pterygium syndrome
created_by: mtutaj
creation_date: 2021-05-27T11:20:55Z

[Term]
id: DOID:9006858
name: Endocardial Cushion Defects
def: "A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atrioventricular valves." [MESH:D004694]
synonym: "Endocardial Cushion Defect" EXACT []
synonym: "Persistent Common Atrioventricular Canal" EXACT []
xref: MESH:D004694
xref: RDO:0005482
is_a: DOID:1681 ! heart septal defect

[Term]
id: DOID:9006859
name: BCG Infection, Generalized Familial
xref: MESH:C565907
xref: RDO:0014421
is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections

[Term]
id: DOID:9006860
name: Lipedema
alt_id: MIM:614103
def: "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of SUBCUTANEOUS FAT often in obese women. It is associated with HEMATOMA, pain and may progress to secondary LYMPHEDEMA which is known as lipolymphedema." [MESH:D065134]
synonym: "Lipedemas" EXACT []
synonym: "Lipoedema" EXACT []
synonym: "Lipoedemas" EXACT []
synonym: "Lipolymphedema" EXACT []
synonym: "Lipolymphedemas" EXACT []
xref: MESH:D065134
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:9006861
name: Porphyria, Chester Type
xref: MESH:C536341
is_a: DOID:3890 ! acute intermittent porphyria

[Term]
id: DOID:9006862
name: PERITONEAL GLIOMATOSIS
def: "A rare condition often associated with immature ovarian teratoma, is characterized by the presence of mature glial tissue in the peritoneum." [PMID:26564007]
synonym: "gliomatosis peritonei" EXACT []
synonym: "GP" EXACT []
synonym: "PG" EXACT []
is_a: DOID:7305 ! astroblastoma
created_by: slaulede
creation_date: 2020-08-13T12:18:33Z

[Term]
id: DOID:9006863
name: Reactive Angioendotheliomatosis
xref: MESH:C535293
is_a: DOID:9000293 ! Hemangioendothelioma
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:9006864
name: Trigeminal Nerve Injuries
def: "Traumatic injuries to the TRIGEMINAL NERVE. It may result in extreme pain, abnormal sensation in the areas the nerve innervates on face, jaw, gums and tongue and can cause difficulties with speech and chewing. It is sometimes associated with various dental treatments." [MESH:D061221]
synonym: "Cranial Nerve V Injury" EXACT []
synonym: "Fifth Cranial Nerve Injuries" EXACT []
synonym: "Fifth Cranial Nerve Injury" EXACT []
synonym: "Fifth Nerve Trauma" EXACT []
synonym: "Fifth-Nerve Traumas" EXACT []
synonym: "Traumatic Fifth-Nerve Palsies" EXACT []
synonym: "Traumatic Fifth Nerve Palsy" EXACT []
synonym: "Traumatic Trigeminal Neuropathies" EXACT []
synonym: "Traumatic Trigeminal Neuropathy" EXACT []
synonym: "Trigeminal Nerve Avulsion" EXACT []
synonym: "Trigeminal Nerve Avulsions" EXACT []
synonym: "Trigeminal Nerve Contusion" EXACT []
synonym: "Trigeminal Nerve Contusions" EXACT []
synonym: "Trigeminal Nerve Injury" EXACT []
synonym: "Trigeminal Nerve Transection" EXACT []
synonym: "Trigeminal Nerve Transections" EXACT []
synonym: "Trigeminal Nerve Trauma" EXACT []
synonym: "Trigeminal Nerve Traumas" EXACT []
xref: MESH:D061221
xref: RDO:0010058
is_a: DOID:561 ! trigeminal nerve disease
is_a: DOID:9000598 ! Cranial Nerve Injuries

[Term]
id: DOID:9006865
name: Fever of Unknown Origin
def: "Fever in which the etiology cannot be ascertained." [MESH:D005335]
synonym: "Unknown Origin Fever" EXACT []
synonym: "Unknown Origin Fevers" EXACT []
xref: EFO:0003952
xref: MESH:D005335
xref: RDO:0005599
is_a: DOID:9000972 ! Fever

[Term]
id: DOID:9006866
name: THROMBOCYTOPENIA 13
def: "This disease is an autosomal recessive disorder characterized mainly by congenital thrombocytopenia resulting in increased bleeding. Platelets tend to be enlarged (macrothrombocytopenia) and/or gray and show functional defects." [MIM:620776]
synonym: "syndromic thrombocytopenia-13" EXACT []
synonym: "THC13" EXACT []
synonym: "THROMBOCYTOPENIA 13, SYNDROMIC" EXACT []
synonym: "THROMBOCYTOPENIA, AUTOSOMAL RECESSIVE, 13" EXACT []
xref: MIM:620776
is_a: DOID:1588 ! thrombocytopenia
created_by: slaulederkind
creation_date: 2024-06-04T10:10:46Z

[Term]
id: DOID:9006867
name: Accessory Navicular Bone
alt_id: MIM:161600
xref: MESH:C536002
is_a: DOID:9007310 ! Foot Diseases

[Term]
id: DOID:9006869
name: Brown-Pearce Carcinoma
def: "A transplantable EPITHELIAL CELL neoplasm of rabbits." [MESH:D002284]
synonym: "Brown-Pearce Epithelioma" EXACT []
xref: EFO:1001278
xref: MESH:D002284
is_a: DOID:9002170 ! Experimental Neoplasms

[Term]
id: DOID:9006870
name: Morgellons Disease
def: "An unexplained illness which is characterized by skin manifestations including non-healing lesions, itching, and the appearance of fibers." [MESH:D055535]
synonym: "Morgellon" EXACT []
synonym: "Morgellon's" EXACT []
synonym: "Morgellons" EXACT []
synonym: "Morgellons Syndrome" EXACT []
xref: MESH:D055535
is_a: DOID:37 ! skin disease
is_a: DOID:9000439 ! Schizophrenia Spectrum and Other Psychotic Disorders

[Term]
id: DOID:9006871
name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME
def: "This disease is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities." [MIM:620186]
synonym: "BCAHH" EXACT []
synonym: "CHOANAL ATRESIA-ATHELIA-HYPOTHYROIDISM-DELAYED PUBERTY-SHORT STATURE SYNDROME" EXACT []
synonym: "KMT2D-RELATED CONDITION" BROAD []
synonym: "KMT2D-RELATED DISORDERS" BROAD []
xref: MIM:620186
is_a: DOID:1459 ! hypothyroidism
is_a: DOID:14702 ! branchiootorenal syndrome
is_a: DOID:9000865 ! Amastia
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9574 ! choanal atresia
created_by: slaulede
creation_date: 2023-04-13T12:46:40Z

[Term]
id: DOID:9006872
name: Synostosis of Talus and Calcaneus with Short Stature
xref: MESH:C566089
is_a: DOID:0050789 ! tarsal-carpal coalition syndrome
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9006873
name: Odd Shapes of Teeth
alt_id: MIM:187000
synonym: "lobodontia" EXACT []
synonym: "multiple conical teeth" EXACT []
xref: MESH:C566076
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9006874
name: Retinal Aplasia
alt_id: MIM:179900
synonym: "Amaurosis Congenita" EXACT []
xref: MESH:C566720
is_a: DOID:1432 ! blindness
is_a: DOID:5679 ! retinal disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9006875
name: Sutton Disease 2
synonym: "Aphthous Stomatitis, Recurrent" EXACT []
synonym: "Aphthous Ulcer, Recurrent" EXACT []
synonym: "Major Aphthous Ulcer" EXACT []
synonym: "Major Canker Sore" EXACT []
synonym: "Recurrent Scarring Aphthae" EXACT []
xref: MESH:C538145
is_a: DOID:9663 ! aphthous stomatitis

[Term]
id: DOID:9006876
name: Autoinflammation, Immune Dysregulation, and Eosinophilia
synonym: "AIIDE" EXACT []
synonym: "atopic dermatitis, enteritis, colitis, and eosinophilia" EXACT []
synonym: "JAK1-RELATED CONDITION" EXACT []
xref: MIM:618999
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9001371 ! Eosinophilia
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: mtutaj
creation_date: 2020-09-02T13:31:12Z

[Term]
id: DOID:9006877
name: Insulin-Like Growth Factor I Deficiency
alt_id: MIM:608747
synonym: "Growth Retardation with Sensorineural Deafness and Mental Retardation" EXACT []
synonym: "IGF1 Deficiency" EXACT []
xref: MESH:C563867
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9006878
name: Exercise Intolerance
alt_id: OMIA:001466
def: "A symptom primarily found in cardiorespiratory disorders. It is also a common symptom in chronic fatigue syndrome." []
synonym: "Exercise-induced collapse" NARROW []
synonym: "riboflavin-responsive exercise intolerance" NARROW []
synonym: "RREI" NARROW []
xref: MIM:616839
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9006879
name: Primary Hyperparathyroidism, caused by Water Clear Cell Hyperplasia
alt_id: MIM:600166
xref: MESH:C563982
is_a: DOID:11202 ! primary hyperparathyroidism

[Term]
id: DOID:9006880
name: Urinary Incontinence
def: "Involuntary loss of URINE, such as leaking of urine. It is a symptom of various underlying pathological processes. Major types of incontinence include URINARY URGE INCONTINENCE and URINARY STRESS INCONTINENCE." [MESH:D014549]
xref: MESH:D014549
is_a: DOID:9003919 ! Urination Disorders
is_a: DOID:9003962 ! Lower Urinary Tract Symptoms

[Term]
id: DOID:9006881
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA
def: "An autosomal recessive neurologic disorder characterized by global developmental delay apparent from infancy, hypotonia, and poor overall growth. The phenotype is highly variable." [MIM:618808]
synonym: "ABCA2-RELATED CONDITION" EXACT []
synonym: "IDPOGSA" EXACT []
xref: MIM:618808
is_a: DOID:0050951 ! hereditary ataxia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:9006257 ! Growth Disorders
created_by: slaulede
creation_date: 2020-07-21T13:23:38Z

[Term]
id: DOID:9006882
name: Progesterone Resistance
alt_id: MIM:264080
synonym: "Pseudocorpus Luteum Insufficiency" EXACT []
xref: MESH:C564871
is_a: DOID:345 ! uterine disease

[Term]
id: DOID:9006883
name: Sclerosing Lymphocytic Lobulitis
synonym: "Sclerosing lymphocytic lobulitis of the breast" EXACT []
xref: MESH:C537524
is_a: DOID:3463 ! breast disease
is_a: DOID:9001779 ! Lymphocytosis
is_a: DOID:9007896 ! Sclerosis

[Term]
id: DOID:9006884
name: Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts
alt_id: MIM:225740
xref: MESH:C565596
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:0080000 ! muscular disease
is_a: DOID:83 ! cataract
is_a: DOID:9005627 ! Metabolic Brain Diseases

[Term]
id: DOID:9006885
name: large artery stroke
def: "This is a stroke caused by the blockage of blood flow in one of the large arteries feeding the brain." [EFO:0005524]
synonym: "atherosclerotic stroke" EXACT []
xref: EFO:0005524
is_a: DOID:9007096 ! Stroke
created_by: slaulede
creation_date: 2023-01-16T12:07:39Z

[Term]
id: DOID:9006886
name: Atrial Septal Defect with Atrioventricular Conduction Defects
synonym: "ASD with Atrioventricular Conduction Defects" EXACT []
xref: MESH:C566238
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:9003163 ! Heart Block

[Term]
id: DOID:9006887
name: Bifidobacteriales Infections
def: "Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." [MESH:D039941]
synonym: "Bifidobacteriales Infection" EXACT []
xref: EFO:1000873
xref: MESH:D039941
xref: RDO:0007498
is_a: DOID:9002823 ! Gram-Positive Bacterial Infections

[Term]
id: DOID:9006888
name: Benign Neonatal Epilepsy, 1
synonym: "Convulsions, Benign Familial Neonatal, 1" EXACT []
xref: MESH:C565164
is_a: DOID:14264 ! benign neonatal seizures

[Term]
id: DOID:9006889
name: Uterine Hemorrhage
def: "Bleeding from blood vessels in the UTERUS, sometimes manifested as vaginal bleeding." [MESH:D014592]
synonym: "Uterine Bleeding" EXACT []
synonym: "Uterine Bleedings" EXACT []
synonym: "Uterine Hemorrhages" EXACT []
synonym: "Vaginal Bleeding" EXACT []
synonym: "Vaginal Bleedings" EXACT []
xref: MESH:D014592
is_a: DOID:345 ! uterine disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9006890
name: Chronic Uveitis
def: "Inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, having a slow progressive course of indefinite duration." []
synonym: "chronic inflammation of uveal tract" EXACT []
xref: RDO:9000100
is_a: DOID:13141 ! uveitis

[Term]
id: DOID:9006891
name: Schimke X-Linked Mental Retardation Syndrome
alt_id: MIM:312840
synonym: "Childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness" EXACT []
synonym: "Choreoathetosis with X-linked mental retardation" EXACT []
synonym: "Progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness" EXACT []
xref: MESH:C536630
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9006892
name: Dyschromatosis Universalis Hereditaria 3
alt_id: RDO:9000936
synonym: "DUH3" EXACT []
xref: MIM:615402
is_a: DOID:0060304 ! dyschromatosis universalis hereditaria

[Term]
id: DOID:9006894
name: Oral Manifestations
def: "Disorders of the mouth attendant upon non-oral disease or injury." [MESH:D009912]
synonym: "Oral Manifestation" EXACT []
xref: MESH:D009912
is_a: DOID:403 ! mouth disease
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9006895
name: Vasquez Hurst Sotos Syndrome
xref: MESH:C536533
xref: RDO:0002144
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12698 ! gynecomastia
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9006896
name: Usher Syndrome, Type ID/F
synonym: "Usher Syndrome, Type 1D/F" EXACT []
synonym: "Usher Syndrome, Type ID/F, Digenic" EXACT []
xref: MESH:C567409
xref: RDO:0015487
is_a: DOID:0110831 ! Usher syndrome type 1D
is_a: DOID:0110832 ! Usher syndrome type 1F

[Term]
id: DOID:9006897
name: Atelosteogenesis Type 2
alt_id: MIM:256050
synonym: "AO2" EXACT []
synonym: "AOII" EXACT []
synonym: "atelosteogenesis De La Chapelle type" EXACT []
synonym: "Atelosteogenesis, Type II" EXACT []
synonym: "De La Chapelle Dysplasia" EXACT []
synonym: "DLCD" NARROW []
synonym: "McAlister Dysplasia" EXACT []
synonym: "Neonatal osseous dysplasia 1" EXACT []
synonym: "neonatal osseous dysplasia I" EXACT []
xref: MESH:C535395
is_a: DOID:0050648 ! atelosteogenesis

[Term]
id: DOID:9006898
name: Olfactory Nerve Injuries
alt_id: RDO:0010056
def: "Traumatic injuries to the OLFACTORY NERVE. It may result in various olfactory dysfunction including a complete loss of smell." [MESH:D061219]
synonym: "Cranial Nerve I Injury" EXACT []
synonym: "First Cranial Nerve Injuries" EXACT []
synonym: "First Cranial Nerve Injury" EXACT []
synonym: "First Nerve Trauma" EXACT []
synonym: "First-Nerve Traumas" EXACT []
synonym: "Olfactory Nerve Avulsion" EXACT []
synonym: "Olfactory Nerve Avulsions" EXACT []
synonym: "Olfactory Nerve Contusion" EXACT []
synonym: "Olfactory Nerve Contusions" EXACT []
synonym: "Olfactory Nerve Injury" EXACT []
synonym: "Olfactory Nerve Transection" EXACT []
synonym: "Olfactory Nerve Transections" EXACT []
synonym: "Olfactory Nerve Trauma" EXACT []
synonym: "Olfactory Nerve Traumas" EXACT []
synonym: "Traumatic First-Nerve Palsies" EXACT []
synonym: "Traumatic First Nerve Palsy" EXACT []
synonym: "Traumatic Olfactory Neuropathies" EXACT []
synonym: "Traumatic Olfactory Neuropathy" EXACT []
xref: MESH:D061219
is_a: DOID:367 ! olfactory nerve disease
is_a: DOID:9000598 ! Cranial Nerve Injuries

[Term]
id: DOID:9006899
name: North American Indian Childhood Cirrhosis
alt_id: MIM:604901
synonym: "HEREDITARY NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS" EXACT []
synonym: "NAIC" EXACT []
xref: MESH:C565737
is_a: DOID:12236 ! primary biliary cholangitis

[Term]
id: DOID:9006900
name: Inosine Phosphorylase Deficiency, Immune Defect Due To
alt_id: MIM:243080
xref: MESH:C565465
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9006901
name: Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy
def: "This disease is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions." [EFO:0009158]
synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" EXACT []
synonym: "PEBEL" EXACT []
xref: EFO:0009158
xref: MIM:PS617186
is_a: DOID:4724 ! brain edema
is_a: DOID:9002704 ! Leukoencephalopathies
created_by: mtutaj
creation_date: 2019-03-20T08:24:30Z

[Term]
id: DOID:9006902
name: Frenkel Russe Syndrome
alt_id: MIM:267900
synonym: "retinal telangiectasia and hypogammaglobulinemia" EXACT []
synonym: "retinal telangiectasia associated with hypogammaglobulinemia" EXACT []
xref: MESH:C535638
is_a: DOID:1272 ! telangiectasis
is_a: DOID:225 ! syndrome
is_a: DOID:2583 ! agammaglobulinemia
is_a: DOID:9000062 ! Retinal Hemorrhage

[Term]
id: DOID:9006906
name: Bilateral Choroidal Osteoma
alt_id: MIM:118865
xref: MESH:C566124
is_a: DOID:9000660 ! Choristoma
is_a: DOID:9000994 ! Choroid Neoplasms
is_a: DOID:9004412 ! Osteoma

[Term]
id: DOID:9006907
name: Glaucoma 1, Open Angle, J
alt_id: MIM:608695
synonym: "Glaucoma, Primary Open Angle, Juvenile-Onset, 2" EXACT []
synonym: "GLC1J" EXACT []
synonym: "JOAG2" EXACT []
xref: MESH:C563874
is_a: DOID:1070 ! primary open angle glaucoma

[Term]
id: DOID:9006909
name: Porokeratosis, Disseminated Superficial Actinic, 8
def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shape, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), the existence of several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. POROK8 is caused by heterozygous mutation in the SLC17A9 gene on chromosome 20q13. (OMIM)" []
synonym: "POROK8" EXACT []
synonym: "porokeratosis 8, disseminated superficial actinic type" EXACT []
xref: MIM:616063
is_a: DOID:3805 ! porokeratosis

[Term]
id: DOID:9006910
name: Red Cell Phospholipid Defect with Hemolysis
alt_id: MIM:179700
synonym: "High red cell phosphatidylcholine hemolytic anemia" EXACT []
synonym: "Leaky Red cell syndrome" EXACT []
synonym: "Phosphatidylcholine Red cell membrane disorder" EXACT []
xref: MESH:C535298
is_a: DOID:589 ! congenital hemolytic anemia
is_a: DOID:9003603 ! Hemolysis

[Term]
id: DOID:9006911
name: Congenital Heart Defects, Multiple Types, 3
synonym: "CHTD3" EXACT []
synonym: "congenital heart defects, multiple types, with cardiac rhythm and conduction disturbances" EXACT []
xref: MIM:614954
is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types
created_by: mtutaj
creation_date: 2020-07-22T10:52:16Z

[Term]
id: DOID:9006912
name: Acute Alcohol Sensitivity
synonym: "HANGOVER, SUSCEPTIBILITY TO" RELATED []
xref: MIM:610251
is_a: DOID:9004354 ! Alcohol-Related Disorders

[Term]
id: DOID:9006913
name: Short Sleep
synonym: "Short Sleeper" EXACT []
synonym: "Short Sleeper Syndrome" EXACT []
synonym: "Short Sleeper Syndromes" EXACT []
synonym: "Short Sleep Phenotype" EXACT []
synonym: "Short Sleep Phenotypes" EXACT []
xref: EFO:0004807
xref: MIM:PS612975
is_a: DOID:535 ! sleep disorder
created_by: mtutaj
creation_date: 2019-12-19T10:18:47Z

[Term]
id: DOID:9006914
name: Defect in Hyaluronan Metabolism
alt_id: MIM:604855
xref: MESH:C565742
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9006915
name: GSD IV, combined hepatic and myopathic
synonym: "glycogen storage disease IV, combined hepatic and myopathic" EXACT []
xref: RDO:9000326
is_a: DOID:2750 ! glycogen storage disease IV

[Term]
id: DOID:9006916
name: Hepatic Granuloma
def: "This is a relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents in the liver." [MESH:D006099]
synonym: "liver granuloma" EXACT []
synonym: "NCI:C4936" EXACT []
xref: EFO:1000291
xref: MONDO:0006241
is_a: DOID:409 ! liver disease
is_a: DOID:9002019 ! Granuloma
created_by: slaulede
creation_date: 2023-02-09T16:47:19Z

[Term]
id: DOID:9006918
name: lobar intracerebral hemorrhage
def: "This is an intracerebral hemorrhage occuring within the cerebral lobes, either in the cerebral cortex or in the cortical-subcortical junction." [EFO:0010177]
xref: EFO:0010177
is_a: DOID:9002676 ! Cerebral Hemorrhage
created_by: slaulede
creation_date: 2023-01-03T14:59:42Z

[Term]
id: DOID:9006919
name: Humoral Hypercalcemia Of Malignancy
xref: MESH:C562390
xref: RDO:0012138
is_a: DOID:12678 ! hypercalcemia
is_a: DOID:9007199 ! Paraneoplastic Syndromes

[Term]
id: DOID:9006921
name: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA
synonym: "agenesis of the corpus callosum with facial anomalies and cerebellar ataxia" EXACT []
synonym: "BIRK-FLUSSER SYNDROME" EXACT []
synonym: "CCAFCA" EXACT []
synonym: "FINE-FLUSSER SYNDROME" EXACT []
xref: MIM:616819
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9006922
name: Adenocarcinoid Tumor
alt_id: RDO:0004183
xref: MESH:C538230
is_a: DOID:299 ! adenocarcinoma

[Term]
id: DOID:9006923
name: Caliciviridae Infections
def: "Virus diseases caused by CALICIVIRIDAE. They include HEPATITIS E; VESICULAR EXANTHEMA OF SWINE; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans." [MESH:D017250]
synonym: "Caliciviridae Infection" EXACT []
synonym: "Caliciviridae infectious disease" EXACT []
synonym: "Calicivirus Infection" EXACT []
synonym: "Calicivirus Infections" EXACT []
xref: EFO:0007189
xref: MESH:D017250
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:9006924
name: Cardiogenic Shock
def: "Shock resulting from diminution of cardiac output in heart disease." [MESH:D012770]
xref: MESH:D012770
is_a: DOID:5844 ! myocardial infarction
is_a: DOID:9002549 ! Shock

[Term]
id: DOID:9006925
name: Hepatic Echinococcosis
alt_id: RDO:0002220
def: "Liver disease caused by infections with parasitic tapeworms of the genus ECHINOCOCCUS, such as Echinococcus granulosus or Echinococcus multilocularis. Ingested Echinococcus ova burrow into the intestinal mucosa. The larval migration to the liver via the PORTAL VEIN leads to watery vesicles (HYDATID CYST)." [MESH:D004444]
synonym: "Hepatic Alveolar Echinococcis" EXACT []
synonym: "Hepatic Alveolar Echinococcoses" EXACT []
synonym: "Hepatic Alveolar Echinococcosis" EXACT []
synonym: "Hepatic Echinococcoses" EXACT []
synonym: "Hepatic Hydatid Cyst" EXACT []
synonym: "Hepatic Hydatid Cysts" EXACT []
synonym: "Hepatic Hydatidoses" EXACT []
synonym: "Hepatic Hydatidosis" EXACT []
xref: MESH:D004444
is_a: DOID:1496 ! echinococcosis
is_a: DOID:9003155 ! Parasitic Liver Diseases

[Term]
id: DOID:9006926
name: Karoshi Death
def: "Sudden death from overwork, most often as a result of acute CARDIOVASCULAR STROKE." [MESH:D065907]
synonym: "Karoshi deaths" EXACT []
xref: MESH:D065907
is_a: DOID:9007925 ! Sudden Cardiac Death

[Term]
id: DOID:9006927
name: Thyrotoxic Periodic Paralysis
alt_id: MIM:188580
alt_id: MIM:613239
alt_id: MIM:614834
def: "A rare condition featuring recurrent episodes of skeletal muscle weakness that occurs only in people with high thyroid hormone levels (thyrotoxicosis)." []
synonym: "Thyrotoxic Periodic Paralysis, Susceptibility To, 1" RELATED []
synonym: "Thyrotoxic Periodic Paralysis, Susceptibility To, 2" RELATED []
synonym: "Thyrotoxic Periodic Paralysis, Susceptibility To, 3" RELATED []
synonym: "TTPP1" EXACT []
synonym: "TTPP2" EXACT []
synonym: "TTPP3" EXACT []
xref: MIM:PS188580
xref: MONDO:0019201
is_a: DOID:14452 ! hypokalemic periodic paralysis
is_a: DOID:7997 ! thyrotoxicosis

[Term]
id: DOID:9006928
name: Viral Bronchiolitis
def: "An acute inflammatory disease of the lower RESPIRATORY TRACT, caused by paramyxoviruses, occurring primarily in infants and young children; the viruses most commonly implicated are PARAINFLUENZA VIRUS TYPE 3; RESPIRATORY SYNCYTIAL VIRUS, HUMAN; and METAPNEUMOVIRUS." [MESH:D001990]
synonym: "Viral Bronchiolitides" EXACT []
xref: MESH:D001990
is_a: DOID:2942 ! bronchiolitis
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9006929
name: Neonatal Herpes
synonym: "Neonatal herpes simplex virus infection" EXACT []
xref: MESH:C536395
xref: RDO:0001967
is_a: DOID:8566 ! herpes simplex
is_a: DOID:9008808 ! Pregnancy Complications, Infectious

[Term]
id: DOID:9006930
name: Generalized Epilepsy with Febrile Seizures Plus, Type 5
synonym: "GEFS+5, SUSCEPTIBILITY TO" RELATED []
synonym: "GEFS+, TYPE 5, SUSCEPTIBILITY TO" RELATED []
synonym: "GEFS5" NARROW []
synonym: "GEFSP5" EXACT []
synonym: "GEFSP5, SUSCEPTIBILITY TO" RELATED []
synonym: "GEFS, Type 5" EXACT []
xref: MESH:C565812
is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus
is_a: DOID:0111292 ! idiopathic generalized epilepsy 10

[Term]
id: DOID:9006931
name: Humeroradial Synostosis with Craniofacial Anomalies
alt_id: MIM:236410
xref: MESH:C566888
is_a: DOID:0060467 ! humeroradial synostosis
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9006932
name: Mental Retardation X-Linked, South African Type
xref: MESH:C537450
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9006933
name: Mucopolysaccharidosis-Plus Syndrome
def: "An autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases. Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. (OMIM)" []
synonym: "MPSPS" EXACT []
xref: MIM:617303
is_a: DOID:12798 ! mucopolysaccharidosis
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9006934
name: Digital Arthropathy-Brachydactyly, Familial
alt_id: MIM:606835
synonym: "FDAB" EXACT []
xref: MESH:C564656
xref: NCI:C175208
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:8398 ! osteoarthritis

[Term]
id: DOID:9006935
name: Annular Epidermolytic Ichthyosis 2
def: "A disease characterized by erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma. Caused by heterozygous mutation in the keratin-1 gene KRT1." [MIM:620148]
synonym: "AEI2" EXACT []
xref: MIM:620148
is_a: DOID:9005778 ! Annular Epidermolytic Ichthyosis
created_by: mtutaj
creation_date: 2022-12-06T08:26:49Z

[Term]
id: DOID:9006936
name: Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia
is_a: DOID:0112295 ! spondylometaphyseal dysplasia
created_by: rgd
creation_date: 2016-04-12T00:00:00Z

[Term]
id: DOID:9006937
name: NSAID-Enteropathy
def: "Injury of the small intestine caused by non-steroidal anti-inflammatory drugs involving lesions that may contribute to ulceration." []
synonym: "nonsteroidal anti-inflammatory drug-induced enteropathy" EXACT []
synonym: "NSAID-gastroenteropathy" RELATED []
synonym: "NSAID-induced enteropathy" EXACT []
is_a: DOID:9009107 ! Drug-Induced Enteropathy
created_by: rgd
creation_date: 2015-06-09T00:00:00Z

[Term]
id: DOID:9006938
name: Ptosis, Strabismus, and Ectopic Pupils
alt_id: MIM:178330
xref: MESH:C566736
is_a: DOID:0060260 ! ptosis
is_a: DOID:238 ! pupil disease
is_a: DOID:540 ! strabismus

[Term]
id: DOID:9006939
name: Lyme Neuroborreliosis
def: "Nervous system infections caused by tick-borne spirochetes of the BORRELIA BURGDORFERI GROUP. The disease may affect elements of the central or peripheral nervous system in isolation or in combination. Common clinical manifestations include a lymphocytic meningitis, cranial neuropathy (most often a facial neuropathy), POLYRADICULOPATHY, and a mild loss of memory and other cognitive functions. Less often more extensive inflammation involving the central nervous system (encephalomyelitis) may occur. In the peripheral nervous system, B. burgdorferi infection is associated with mononeuritis multiplex and polyradiculoneuritis. (From J Neurol Sci 1998 Jan 8;153(2):182-91)" [MESH:D020852]
synonym: "Borrelia burgdorferi Neuroborreliosis" EXACT []
synonym: "Central Nervous System Lyme Disease" EXACT []
synonym: "Lyme Disease Encephalopathies" EXACT []
synonym: "Lyme Disease Encephalopathy" EXACT []
synonym: "Lyme Disease Mononeuritis Multiplex" EXACT []
synonym: "Lyme Meningoencephalitis" EXACT []
synonym: "Lyme Meningoradiculitis" EXACT []
synonym: "Lyme Polyradiculitides" EXACT []
synonym: "Lyme Polyradiculitis" EXACT []
synonym: "Lyme Polyradiculopathies" EXACT []
synonym: "Lyme Polyradiculopathy" EXACT []
synonym: "Nervous System Lyme Borreliosis" EXACT []
synonym: "Nervous System Lyme Disease" EXACT []
synonym: "Neuroborrelioses, Borrelia burgdorferi" EXACT []
synonym: "Peripheral Nervous System Lyme Disease" EXACT []
xref: MESH:D020852
is_a: DOID:11729 ! Lyme disease
is_a: DOID:9002742 ! Central Nervous System Bacterial Infections

[Term]
id: DOID:9006940
name: Ring Chromosomes
def: "Aberrant chromosomes with no ends, i.e., circular." [MESH:D012303]
synonym: "Ring Chromosome" EXACT []
xref: MESH:D012303
xref: RDO:0000443
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9006941
name: Corneal Perforation
def: "A puncture or hole through the CORNEAL STROMA resulting from various diseases or trauma." [MESH:D057112]
synonym: "Corneal Perforations" EXACT []
xref: MESH:D057112
is_a: DOID:9004321 ! Corneal Injuries

[Term]
id: DOID:9006942
name: Familial Febrile Seizures 3A
synonym: "Familial Febrile Convulsions 3A" EXACT []
xref: MESH:C567820
xref: NCI:C176016
is_a: DOID:0111297 ! familial febrile seizures

[Term]
id: DOID:9006943
name: GARG-MISHRA PROGEROID SYNDROME
def: "This disease is characterized by severe dwarfism, mandibular hypoplasia, microphthalmia, hyperopia, and partial lipodystrophy." [MIM:620601]
synonym: "GMPGS" EXACT []
xref: MIM:620601
relationship: has_component DOID:0080299 ! partial lipodystrophy
relationship: has_component DOID:10629 ! microphthalmia
relationship: has_component DOID:9000066 ! Jaw Abnormalities
relationship: has_component DOID:9007661 ! Dwarfism
relationship: has_component DOID:9834 ! hyperopia
created_by: slaulederkind
creation_date: 2024-01-29T14:18:19Z

[Term]
id: DOID:9006944
name: Alcoholic Fatty Liver
alt_id: RDO:0005579
def: "Lipid infiltration of the hepatic parenchymal cells that is due to ALCOHOL ABUSE. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of TRIGLYCERIDES accumulated." [MESH:D005235]
synonym: "alcoholic steatohepatitis" EXACT []
xref: MESH:D005235
is_a: DOID:9001285 ! Alcoholic Liver Diseases
is_a: DOID:9452 ! steatotic liver disease

[Term]
id: DOID:9006945
name: Diabetic Cardiomyopathies
def: "Diabetes complications in which VENTRICULAR REMODELING in the absence of CORONARY ATHEROSCLEROSIS and hypertension results in cardiac dysfunctions, typically LEFT VENTRICULAR DYSFUNCTION. The changes also result in myocardial hypertrophy, myocardial necrosis and fibrosis, and collagen deposition due to impaired glucose tolerance." [MESH:D058065]
synonym: "Diabetic Cardiomyopathy" EXACT []
xref: EFO:1001458
xref: MESH:D058065
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:9002661 ! Diabetes Complications

[Term]
id: DOID:9006946
name: Nonimmune Chronic Idiopathic Neutropenia, Adult
alt_id: MIM:607847
synonym: "NI-CINA" EXACT []
synonym: "Nonimmune Chronic Idiopathic Neutropenia of Adults" EXACT []
xref: MESH:C564320
is_a: DOID:1227 ! neutropenia
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9006947
name: Fibroadenoma
def: "An adenoma containing fibrous tissue. It should be differentiated from ADENOFIBROMA which is a tumor composed of connective tissue (fibroma) containing glandular (adeno-) structures. (From Dorland, 27th ed)" [MESH:D018226]
synonym: "fibroadenomas" EXACT []
xref: EFO:1000254
xref: MESH:D018226
is_a: DOID:657 ! adenoma
is_a: DOID:9007017 ! Fibroepithelial Neoplasms

[Term]
id: DOID:9006948
name: Vascular Tissue Neoplasms
def: "Neoplasms composed of vascular tissue. This concept does not refer to neoplasms located in blood vessels." [MESH:D009383]
synonym: "blood vessel neoplasm" EXACT []
synonym: "blood vessel tumor" EXACT []
synonym: "blood vessel tumors" EXACT []
synonym: "blood vessel tumour disorder" EXACT []
synonym: "haemangiomatous tumour" EXACT []
synonym: "neoplasm of great vessel" EXACT []
synonym: "vascular tissue neoplasm" EXACT []
synonym: "vascular tumors" EXACT []
xref: MESH:D009383
is_a: DOID:178 ! vascular disease
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:9006949
name: Martsolf Syndrome
synonym: "cataract-intellectual disability-hypogonadism syndrome" EXACT []
synonym: "cataract-mental retardation-hypogonadism" EXACT []
xref: GARD:3406
xref: MESH:C536028
xref: MIM:PS212720
xref: ORDO:1387
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0050888 ! syndromic intellectual disability
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
created_by: mtutaj
creation_date: 2023-02-10T16:06:00Z

[Term]
id: DOID:9006950
name: Sternal Cleft
synonym: "Congenital sternal cleft" EXACT []
xref: MESH:C537489
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9006951
name: Autosomal Dominant Intellectual Developmental Disorder 70
def: "A disease characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities. Caused by a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21." [MIM:620157]
synonym: "MRD70" EXACT []
xref: MIM:620157
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-12-16T12:11:01Z

[Term]
id: DOID:9006952
name: Chromosome 19 Ring
xref: MESH:C538310
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9006953
name: Seow Najjar Syndrome
synonym: "Enamel hypoplasia, capsular cataracts, and ductal stenosis" EXACT []
xref: MESH:C537584
xref: RDO:0003450
is_a: DOID:225 ! syndrome
is_a: DOID:693 ! dental enamel hypoplasia
is_a: DOID:83 ! cataract
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9006955
name: Hypertrophic Neuropathy and Cataract
alt_id: MIM:239900
xref: MESH:C565490
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:83 ! cataract

[Term]
id: DOID:9006956
name: nephrotoxicity
def: "This is toxicity that causes injury to the kidney or damages its function. It is a poisonous effect of some substances, both toxic chemicals and medications." [EFO:0011056, https://en.wikipedia.org/wiki/Nephrotoxicity]
synonym: "kidney toxicity" EXACT []
synonym: "renal toxicity" EXACT []
xref: EFO:0011056
is_a: DOID:557 ! kidney disease
is_a: DOID:9004611 ! Pathologic Processes
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions
created_by: slaulede
creation_date: 2022-10-13T15:06:38Z

[Term]
id: DOID:9006957
name: Lymphatic Malformation 8
synonym: "LMPHM8" EXACT []
xref: MIM:618773
is_a: DOID:0050580 ! hereditary lymphedema
is_a: DOID:9008386 ! Hydrops Fetalis
created_by: mtutaj
creation_date: 2020-02-13T08:19:16Z

[Term]
id: DOID:9006958
name: Generalized Arterial Calcification of Infancy, 1
synonym: "GACI1" EXACT []
xref: MIM:208000
xref: NCI:C128805
is_a: DOID:0050644 ! arterial calcification of infancy
created_by: mtutaj
creation_date: 2019-03-15T12:01:49Z

[Term]
id: DOID:9006959
name: Congenital Dyserythropoiesis with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin
alt_id: MIM:603529
xref: MESH:C566368
is_a: DOID:2355 ! anemia

[Term]
id: DOID:9006960
name: Perimeningeal Infections
def: "Infectious processes, including abscesses, effusions, and empyemas which occur in the epidural or subdural spaces surrounding the brain and spinal cord." [MESH:D020819]
synonym: "Parameningeal Infection" EXACT []
synonym: "Parameningeal Infections" EXACT []
synonym: "Perimeningeal Infection" EXACT []
xref: EFO:1001392
xref: MESH:D020819
xref: RDO:0006638
is_a: DOID:9000025 ! Central Nervous System Infections

[Term]
id: DOID:9006961
name: Asthma and Nasal Polyps
xref: MESH:C565739
xref: RDO:0014297
is_a: DOID:2841 ! asthma
is_a: DOID:9001472 ! Nasal Polyps

[Term]
id: DOID:9006962
name: Takenouchi-Kosaki Syndrome
synonym: "macrothrombocytopenia and mental retardation syndrome" EXACT []
synonym: "TKS" EXACT []
xref: MIM:616737
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006963
name: Pseudohypoaldosteronism Type IB1, Autosomal Recessive
synonym: "PHA1B1" EXACT []
xref: MIM:264350
is_a: DOID:0060854 ! autosomal recessive pseudohypoaldosteronism type 1
created_by: mtutaj
creation_date: 2022-12-05T08:47:56Z

[Term]
id: DOID:9006966
name: Pseudomonas Aeruginosa Keratitis
def: "Pseudomonas aeruginosa infection of the cornea which sometime follows the wearing of contact lenses." []
synonym: "PA keratitis" EXACT []
synonym: "Pseudomonas keratitis" EXACT []
xref: RDO:9000040
is_a: DOID:9003321 ! Bacterial Keratitis

[Term]
id: DOID:9006967
name: Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia
alt_id: MIM:135400
synonym: "Chromosome 17q24.2-q24.3 Deletion Syndrome" EXACT []
synonym: "CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME" EXACT []
synonym: "Fibromatosis, Gingival, with Hypertrichosis" EXACT []
synonym: "HTC3" EXACT []
synonym: "HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA" EXACT []
synonym: "Microdeletion 17q24.2-q24.3 Syndrome" EXACT []
synonym: "MICRODUPLICATION 17q24.2-q24.3 SYNDROME" EXACT []
xref: MESH:C565016
is_a: DOID:0060466 ! gingival fibromatosis
is_a: DOID:420 ! hypertrichosis
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9006968
name: Pleoconial Myopathy with Salt Craving
alt_id: MIM:262900
xref: MESH:C564883
is_a: DOID:422 ! congenital structural myopathy

[Term]
id: DOID:9006969
name: Poor Metabolism of Thiopurines, 1
synonym: "THPM1" EXACT []
xref: MIM:610460
is_a: DOID:0080172 ! thiopurine S-methyltransferase deficiency
created_by: mtutaj
creation_date: 2019-03-27T10:09:44Z

[Term]
id: DOID:9006970
name: Cestode Infections
def: "Infections with true tapeworms of the helminth subclass CESTODA." [MESH:D002590]
synonym: "Bertielliases" EXACT []
synonym: "Bertielliasis" EXACT []
synonym: "Cenuriases" EXACT []
synonym: "Cenuriasis" EXACT []
synonym: "Cestode Infection" EXACT []
synonym: "Coenuriases" EXACT []
synonym: "Coenuriasis" EXACT []
synonym: "Dipylidiases" EXACT []
synonym: "Dipylidiasis" EXACT []
synonym: "Raillietiniases" EXACT []
synonym: "Raillietiniasis" EXACT []
synonym: "Tapeworm Infection" EXACT []
synonym: "Tapeworm Infections" EXACT []
xref: EFO:1001287
xref: MESH:D002590
is_a: DOID:883 ! parasitic helminthiasis infectious disease

[Term]
id: DOID:9006971
name: Thyroid Carcinoma, Nonmedullary 1
alt_id: MIM:188550
alt_id: MIM:606240
alt_id: RDO:0009018
synonym: "NMTC1" EXACT []
synonym: "NMTC3" EXACT []
synonym: "THYROID CANCER, NONMEDULLARY, 1" EXACT []
synonym: "THYROID CANCER, NONMEDULLARY, 3" EXACT []
xref: MESH:C565247
xref: RDO:0013942
is_a: DOID:3969 ! papillary thyroid carcinoma

[Term]
id: DOID:9006972
name: Renal Cell Carcinoma 1
xref: MESH:C538557
xref: RDO:0004499
is_a: DOID:4450 ! renal cell carcinoma

[Term]
id: DOID:9006973
name: Acute Experimental Autoimmune Encephalomyelitis
def: "An acute version of EAE, an experimental animal model for central nervous system demyelinating disease, in which focal demyelination is mild." []
synonym: "acute experimental allergic encephalomyelitis" EXACT []
xref: RDO:9000097
is_a: DOID:9002763 ! Experimental Autoimmune Encephalomyelitis

[Term]
id: DOID:9006974
name: Podder-Tolmie Syndrome
synonym: "Meningoencephalocele, arthrogryposis and hypoplastic thumbs" EXACT []
xref: MESH:C537518
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:225 ! syndrome
is_a: DOID:9000983 ! Encephalocele
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9006975
name: Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
alt_id: MIM:609047
xref: MESH:C563806
is_a: DOID:0080006 ! bone development disease
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:9006976
name: Erythema
def: "Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of causes." [MESH:D004890]
synonym: "Erythemas" EXACT []
xref: MESH:D004890
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9006977
name: Rickettsial Pneumonia
def: "Pneumonia caused by infection with bacteria of the family RICKETTSIACEAE." [MESH:D011022]
synonym: "Rickettsial Pneumonias" EXACT []
xref: EFO:0007472
xref: MESH:D011022
is_a: DOID:874 ! bacterial pneumonia
is_a: DOID:9000458 ! Rickettsiaceae Infections

[Term]
id: DOID:9006978
name: Brachydactyly, Type A2, With Microcephaly
alt_id: MIM:211369
xref: MESH:C565894
is_a: DOID:0110965 ! brachydactyly type A2
is_a: DOID:10907 ! microcephaly

[Term]
id: DOID:9006980
name: Bacterial Sexually Transmitted Diseases
alt_id: RDO:0005183
def: "Bacterial diseases transmitted or propagated by sexual conduct." [MESH:D015231]
synonym: "Bacterial Sexually Transmitted Disease" EXACT []
synonym: "Bacterial Venereal Disease" EXACT []
synonym: "Bacterial Venereal Diseases" EXACT []
xref: EFO:0003955
xref: MESH:D015231
is_a: DOID:9004302 ! Sexually Transmitted Diseases

[Term]
id: DOID:9006981
name: Oocyte/Zygote/Embryo Maturation Arrest 21
def: "A female infertility caused by zygote arrest due to pronuclei fusion failure. Caused by heterozygous mutation in the CHEK1 gene on chromosome 11q24." [MIM:620610]
synonym: "OZEMA21" EXACT []
xref: MIM:620610
is_a: DOID:9007456 ! Female Infertility
created_by: tutajm
creation_date: 2023-12-04T12:50:00Z

[Term]
id: DOID:9006982
name: Ovotesticular Disorders of Sex Development
def: "Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism." [MESH:D050090]
synonym: "46,XX Gonadal Dysgenesis, Complete, Sry-Positive" EXACT []
synonym: "46,XX True Hermaphroditism, Sry-Positive" EXACT []
synonym: "Familial True Hermaphroditism" EXACT []
synonym: "Familial True Hermaphroditisms" EXACT []
synonym: "Familial XX True Hermaphroditism" EXACT []
synonym: "Ovotesticular Disorder Of Sex Development" EXACT []
synonym: "Ovotesticular DSD" EXACT []
synonym: "Ovotesticular DSDs" EXACT []
synonym: "True Hermaphroditism" EXACT []
synonym: "True Hermaphroditisms" EXACT []
synonym: "XX Male Syndrome, Sry Positive" EXACT []
xref: MESH:D050090
xref: NCI:C85207
xref: RDO:0007567
is_a: DOID:1923 ! disorder of sexual development

[Term]
id: DOID:9006985
name: Juvenile-Onset Dystonia
alt_id: MIM:607371
alt_id: RDO:0003589
synonym: "ACTB-RELATED BAFOPATHY" BROAD []
synonym: "DJO" EXACT []
xref: MESH:C537704
is_a: DOID:543 ! dystonia

[Term]
id: DOID:9006986
name: Autoimmune Enteropathy
xref: MESH:C538273
xref: MONDO:0019787
is_a: DOID:14040 ! autoimmune polyendocrine syndrome

[Term]
id: DOID:9006987
name: Fitzsimmons-McLachlan-Gilbert syndrome
alt_id: MIM:309560
synonym: "Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" EXACT []
xref: MESH:C537058
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:3390 ! palmoplantar keratosis

[Term]
id: DOID:9006988
name: Congenital Myasthenic Syndrome, Fast-Channel
alt_id: RDO:0012991
xref: MESH:C563832
is_a: DOID:3635 ! congenital myasthenic syndrome

[Term]
id: DOID:9006989
name: Osebold Skeletal Dysplasia Osteolysis Syndrome
alt_id: MIM:603389
xref: MESH:C566380
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006081 ! Osteolysis

[Term]
id: DOID:9006990
name: Deafness-Oligodontia Syndrome
alt_id: MIM:221740
synonym: "Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia" EXACT []
synonym: "Congenital profound sensorineural deafness and oligodontia" EXACT []
xref: MESH:C538049
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:13714 ! anodontia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9006991
name: Pelvic Lipomatosis with Crossed Renal Ectopia
alt_id: MIM:169545
xref: MESH:C566812
is_a: DOID:3927 ! pelvic lipomatosis

[Term]
id: DOID:9006992
name: MORM Syndrome
alt_id: MIM:610156
synonym: "IMPAIRED INTELLECTUAL DEVELOPMENT, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME" EXACT []
synonym: "INPP5E-RELATED CONDITION" BROAD []
synonym: "Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis" EXACT []
synonym: "Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis syndrome" EXACT []
synonym: "MORMS" EXACT []
xref: MESH:C536984
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1529 ! penile disease
is_a: DOID:225 ! syndrome
is_a: DOID:5614 ! eye disease
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9006994
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
def: "This is a disease characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin." [MIM:617101]
synonym: "BCL11A-RELATED INTELLECTUAL DISABILITY" EXACT []
synonym: "DIAS-LOGAN SYNDROME" EXACT []
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN" EXACT []
xref: MIM:617101
xref: RDO:9001620
is_a: DOID:0080773 ! delta beta-thalassemia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9006995
name: Faciomandibular Myoclonus, Nocturnal
alt_id: MIM:606840
synonym: "Nocturnal facio-mandibular myoclonus" EXACT []
synonym: "PARASOMNIA, SLEEP BRUXISM TYPE" EXACT []
synonym: "PSMNSB" EXACT []
xref: MESH:C536389
is_a: DOID:9004744 ! Sleep Bruxism

[Term]
id: DOID:9006996
name: Retinitis Pigmentosa 79
synonym: "RP79" EXACT []
xref: MIM:617460
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:9006997
name: Dilated Cardiomyopathy 1OO
def: "A disease characterized by enlarged left ventricular end-diastolic diameter and reduced left ventricular ejection fraction, resulting in cardiac failure that may result in premature death. Caused by heterozygous mutation in the VEZF1 gene on chromosome 17q22." [MIM:620247]
synonym: "CMD1OO" EXACT []
xref: MIM:620247
is_a: DOID:12930 ! dilated cardiomyopathy
created_by: mtutaj
creation_date: 2023-02-16T15:28:27Z

[Term]
id: DOID:9006998
name: Cystic Disease of Lung
synonym: "PCLUD" EXACT []
synonym: "polycystic lung disease" EXACT []
xref: MESH:C563237
xref: MIM:219600
xref: MONDO:0009060
is_a: DOID:850 ! lung disease

[Term]
id: DOID:9006999
name: Synesthesia
alt_id: MIM:612759
def: "The experience of involuntary sensory cross activation where the presentation of a particular stimulus elicits a secondary sensory-perceptual experience. It most commonly occurs in the association of color with linguistic stimuli such as letters, numbers, words, or music, but can also occur between other senses. Although synesthesia can be acquired or transient due to trauma or drug use, there is also a strong genetic component, with a prevalence of about 1 in 2,000 individuals and a female to male ratio of 6:1. (MESH)" []
synonym: "Chromesthesia" EXACT []
synonym: "Colored Hearing Synesthesia" EXACT []
synonym: "Grapheme-Color Synesthesia" EXACT []
synonym: "Ideaesthesia" EXACT []
synonym: "Ideasthesia" EXACT []
synonym: "Lexical-Gustatory Synesthesia" EXACT []
synonym: "SYNSTH" EXACT []
xref: MESH:D000080311
is_a: DOID:9004523 ! Perceptual Disorders

[Term]
id: DOID:9007
name: sudden infant death syndrome
alt_id: MIM:272120
def: "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation. (DO)" [http://en.wikipedia.org/wiki/Sudden_infant_death_syndrome "DO", http://omim.org/entry/272120 "DO", http://www.nlm.nih.gov/medlineplus/suddeninfantdeathsyndrome.html "DO"]
synonym: "cot death" EXACT []
synonym: "cot deaths" EXACT []
synonym: "crib death" EXACT []
synonym: "SID" EXACT []
synonym: "SIDS" EXACT []
synonym: "sudden death of nonspecific cause in infancy" EXACT []
synonym: "sudden infant death" EXACT []
xref: EFO:0005303
xref: GARD:7711
xref: ICD9CM:798.0
xref: MESH:D013398
xref: NCI:C85173
is_a: DOID:225 ! syndrome
is_a: DOID:9006030 ! Infant Death
is_a: DOID:9007820 ! Sudden Death

[Term]
id: DOID:9007000
name: Cleft Palate, Deafness, and Oligodontia
alt_id: MIM:216300
xref: MESH:C565844
is_a: DOID:13714 ! anodontia
is_a: DOID:674 ! cleft palate
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9007001
name: Bradycardia
def: "Cardiac arrhythmias that are characterized by excessively slow HEART RATE, usually below 50 beats per minute in human adults. They can be classified broadly into SINOATRIAL NODE dysfunction and ATRIOVENTRICULAR BLOCK." [MESH:D001919]
synonym: "Bradyarrhythmia" EXACT []
synonym: "Bradyarrhythmias" EXACT []
synonym: "Bradycardias" EXACT []
xref: MESH:D001919
xref: RDO:0005048
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:9007002
name: Von Willebrand Disease, X-Linked Form
alt_id: MIM:314560
xref: MESH:C564041
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:12531 ! von Willebrand's disease

[Term]
id: DOID:9007003
name: Mediastinal Diseases
def: "Disorders of the mediastinum, general or unspecified." [MESH:D008477]
synonym: "Mediastinal Disease" EXACT []
xref: MESH:D008477
xref: RDO:0002192
is_a: DOID:0060118 ! thoracic disease

[Term]
id: DOID:9007005
name: Branchiogenic-Deafness Syndrome
alt_id: MIM:609166
xref: MESH:C563780
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9007006
name: Maple Syrup Urine Disease, Type 1B
alt_id: MIM:620698
synonym: "MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB" EXACT []
synonym: "Maple Syrup Urine Disease, Type IB" EXACT []
synonym: "MSUD1B" EXACT []
xref: MESH:C535711
is_a: DOID:9269 ! maple syrup urine disease

[Term]
id: DOID:9007007
name: Succinate-Coa Ligase Deficiency
synonym: "Mitochondrial Dna Depletion, Encephalomyopathic Form, with Methylmalonic Aciduria" EXACT []
synonym: "Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria" EXACT []
synonym: "Succinate-Coenzyme A Ligase Deficiency" EXACT []
xref: MESH:C580473
xref: RDO:0015933
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9007008
name: Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation
alt_id: MIM:226440
synonym: "Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders" EXACT []
xref: MESH:C535492
is_a: DOID:1059 ! intellectual disability
is_a: DOID:13714 ! anodontia
is_a: DOID:3209 ! junctional epidermolysis bullosa
is_a: DOID:4123 ! nail disease
is_a: DOID:4644 ! epidermolysis bullosa simplex

[Term]
id: DOID:9007009
name: Facial Neoplasms
def: "New abnormal growth of tissue in the FACE." [MESH:D005153]
synonym: "Facial Neoplasm" EXACT []
xref: MESH:D005153
xref: RDO:0004080
is_a: DOID:9006169 ! Head and Neck Neoplasms

[Term]
id: DOID:9007010
name: Demyelinating Autoimmune Diseases, CNS
alt_id: RDO:0005168
def: "Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens." [MESH:D020278]
synonym: "autoimmune demyelinating diseases, central nervous system" EXACT []
synonym: "Autoimmune Demyelinating Diseases, Cerebral" EXACT []
synonym: "Brain Autoimmune Demyelinating Diseases" EXACT []
synonym: "CNS Autoimmune Demyelinating Disorders" EXACT []
synonym: "Demyelinating Disease, Autoimmune, CNS" EXACT []
synonym: "spinal cord demyelinating autoimmune diseases" EXACT []
xref: EFO:1000870
xref: MESH:D020278
is_a: DOID:0060004 ! autoimmune disease of central nervous system
is_a: DOID:3213 ! demyelinating disease
is_a: DOID:9002704 ! Leukoencephalopathies

[Term]
id: DOID:9007011
name: Autosomal Recessive Nonsyndromic Deafness 123
def: "A disease characterized by nonsyndromic bilateral severe to profound hearing impairment, with onset as early as the first decade of life. Caused by homozygous mutation in the STX4 gene on chromosome 16p11." [MIM:620745]
synonym: "DFNB123" EXACT []
xref: MIM:620745
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
created_by: tutajm
creation_date: 2024-03-18T12:21:24Z

[Term]
id: DOID:9007012
name: THAUVIN-ROBINET-FAIVRE SYNDROME
def: "An autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. (OMIM)" []
synonym: "TROFAS" EXACT []
xref: MIM:617107
xref: RDO:9001588
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9006084 ! Gigantism
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9007014
name: BCG Infection, Generalized Familial Semibenign, Autosomal Dominant
synonym: "BCG INFECTION, GENERALIZED FAMILIAL SEMIBENIGN" EXACT []
xref: MESH:C565909
xref: RDO:0014423
is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections

[Term]
id: DOID:9007015
name: Cleidorhizomelic Syndrome
alt_id: MIM:119650
synonym: "cleido rhizomelic syndrome" EXACT []
synonym: "rhizomelic shortness with clavicular defect" EXACT []
synonym: "Wallis Zieff Goldblatt syndrome" EXACT []
xref: MESH:C536428
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9007016
name: Tetralogy of Fallot Syndrome, Autosomal Recessive
alt_id: MIM:605618
xref: MESH:C565314
is_a: DOID:6419 ! tetralogy of Fallot

[Term]
id: DOID:9007017
name: Fibroepithelial Neoplasms
def: "Neoplasms composed of fibrous and epithelial tissue. The concept does not refer to neoplasms located in fibrous tissue or epithelium." [MESH:D018225]
synonym: "Fibroepithelial Neoplasm" EXACT []
xref: EFO:0007271
xref: MESH:D018225
is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms
is_a: DOID:9008446 ! Fibrous Tissue Neoplasms

[Term]
id: DOID:9007019
name: Pneumocystis Infections
def: "Infections with species in the genus PNEUMOCYSTIS, a fungus causing interstitial plasma cell pneumonia (PNEUMONIA, PNEUMOCYSTIS) and other infections in humans and other MAMMALS. Immunocompromised patients, especially those with AIDS, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally." [MESH:D016720]
synonym: "Pneumocystis carinii Infection" EXACT []
synonym: "Pneumocystis carinii Infections" EXACT []
synonym: "Pneumocystis Infection" EXACT []
synonym: "Pneumocystis infectious disease" EXACT []
xref: EFO:0007447
xref: MESH:D016720
xref: RDO:0006375
is_a: DOID:1564 ! fungal infectious disease

[Term]
id: DOID:9007020
name: Mollica-Pavone-Antener Syndrome
synonym: "dwarfism, intellectual disability, and eye abnormality" EXACT []
synonym: "dwarfism, mental retardation, and eye abnormality" EXACT []
synonym: "Mollica syndrome" EXACT []
synonym: "short stature, mental retardation and ocular alterations" EXACT []
xref: MESH:C535809
xref: MIM:223540
xref: MONDO:0009128
xref: ORDO:2650
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:5614 ! eye disease
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9007021
name: Bordetella Infections
def: "Infections with bacteria of the genus BORDETELLA." [MESH:D001885]
synonym: "bordetella infection" EXACT []
synonym: "Bordetella Infectious disease" EXACT []
xref: EFO:1001275
xref: MESH:D001885
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9007022
name: Pfeiffer Palm Teller Syndrome
alt_id: MIM:261560
synonym: "PPT SYNDROME" EXACT []
synonym: "SHORT STATURE, UNIQUE FACIES, ENAMEL HYPOPLASIA, PROGRESSIVE JOINT STIFFNESS, AND HIGH-PITCHED VOICE" EXACT []
xref: MESH:C537889
is_a: DOID:225 ! syndrome
is_a: DOID:381 ! arthropathy
is_a: DOID:693 ! dental enamel hypoplasia
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007023
name: Prenatal Injuries
def: "Damages to the EMBRYO, MAMMALIAN or the FETUS before BIRTH. Damages can be caused by any factors including biological, chemical, or physical." [MESH:D049188]
synonym: "Prenatal Injury" EXACT []
xref: MESH:D049188
xref: RDO:0006411
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9007024
name: Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine
alt_id: MIM:162600
xref: MESH:C563516
is_a: DOID:870 ! neuropathy

[Term]
id: DOID:9007025
name: Keratouveitis
def: "Inflammation of part or all of the uvea and of the cornea." []
is_a: DOID:13141 ! uveitis
is_a: DOID:4677 ! keratitis

[Term]
id: DOID:9007026
name: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY
def: "This disease is a clinically heterogeneous neurodevelopmental disorder characterized by motor delay, speech delay, and variably impaired intellectual development apparent from infancy or early childhood. About half of affected individuals develop various types of seizures that are not as severe as observed in the allelic disorder DEE5 (developmental and epileptic encephalopathy 5). In general, the phenotype is similar to but milder than DEE5." [MIM:620540]
synonym: "DEVEP" EXACT []
xref: MIM:620540
is_a: DOID:9004429 ! Neurodevelopmental Disorders
relationship: has_component DOID:1826 ! epilepsy
created_by: slaulederkind
creation_date: 2024-09-16T16:23:25Z

[Term]
id: DOID:9007027
name: Hyperlysinemia due to Defect in Lysine Transport into Mitochondria
alt_id: MIM:238710
xref: MESH:C565499
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9274 ! hyperlysinemia

[Term]
id: DOID:9007028
name: Episodic Muscle Weakness, X-Linked
alt_id: MIM:300211
synonym: "EMWX" EXACT []
xref: MESH:C564565
xref: RDO:0013485
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9005532 ! Muscle Weakness

[Term]
id: DOID:9007030
name: Endocardial Fibroelastosis and Coarctation of Abdominal Aorta
alt_id: MIM:226100
xref: MESH:C565592
is_a: DOID:12929 ! endocardial fibroelastosis
is_a: DOID:9007908 ! Aortic Coarctation

[Term]
id: DOID:9007031
name: Uveal Neoplasms
def: "Tumors or cancer of the UVEA." []
synonym: "uveal neoplasm" EXACT []
synonym: "uveal tumor" EXACT []
xref: MESH:D014604
xref: NCI:C3436
is_a: DOID:3480 ! uveal disease
is_a: DOID:9004059 ! Eye Neoplasms

[Term]
id: DOID:9007032
name: Neonatal Ovarian Cyst
synonym: "Fetal ovarian cyst" EXACT []
xref: MESH:C536396
is_a: DOID:5119 ! ovarian cyst

[Term]
id: DOID:9007033
name: Ventricular Premature Complexes
def: "A type of cardiac arrhythmia with premature contractions of the HEART VENTRICLES. It is characterized by the premature QRS complex on ECG that is of abnormal shape and great duration (generally >129 msec). It is the most common form of all cardiac arrhythmias. Premature ventricular complexes have no clinical significance except in concurrence with heart diseases." [MESH:D018879]
synonym: "Premature Ventricular Beat" EXACT []
synonym: "Premature Ventricular Beats" EXACT []
synonym: "Premature Ventricular Complex" EXACT []
synonym: "Premature Ventricular Contraction" EXACT []
synonym: "Premature Ventricular Contractions" EXACT []
synonym: "PVC" EXACT []
synonym: "Ventricular Ectopic Beat" EXACT []
synonym: "Ventricular Ectopic Beats" EXACT []
synonym: "ventricular ectopy" EXACT []
synonym: "Ventricular Extrasystole" EXACT []
synonym: "Ventricular Extrasystoles" EXACT []
synonym: "VPC" EXACT []
xref: EFO:0009276
xref: MESH:D018879
is_a: DOID:9002737 ! Premature Cardiac Complexes

[Term]
id: DOID:9007037
name: Portal Vein Obstruction
def: "Obstruction of the portal vein by a blood clot (THROMBUS) or malignant obstruction." []
synonym: "Hepatic portal vein obstruction" EXACT []
synonym: "Occlusion of hepatic portal vein" EXACT []
is_a: DOID:9003505 ! Venous Thromboembolism
created_by: rgd
creation_date: 2016-06-03T00:00:00Z

[Term]
id: DOID:9007038
name: Acquired Agranulocytosis
synonym: "Agranulocytic Angina" EXACT []
synonym: "Granulocytopenia, Primary" EXACT []
synonym: "Neutropenia, Malignant" EXACT []
xref: MESH:C538171
xref: RDO:0004110
is_a: DOID:12987 ! agranulocytosis

[Term]
id: DOID:9007039
name: Ventricular Dysfunction
def: "A condition in which HEART VENTRICLES exhibit impaired function." [MESH:D018754]
synonym: "Ventricular Dysfunctions" EXACT []
xref: MESH:D018754
xref: RDO:0007211
is_a: DOID:114 ! heart disease

[Term]
id: DOID:9007040
name: Foot-and-Mouth Disease
def: "A highly infectious disease caused by FOOT AND MOUTH DISEASE VIRUS that affects mammals of the ARTIODACTYLA order (CATTLE; SHEEP; GOATS; and PIGS) and is characterized by high fever followed by the appearance of blisters inside the mouth and on the feet." [MESH:D005536]
synonym: "Foot-and-Mouth Diseases" EXACT []
xref: EFO:0007277
xref: MESH:D005536
is_a: DOID:9003470 ! Picornaviridae Infections
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9007041
name: Actinobacillus Infections
alt_id: RDO:0004724
def: "Infections with bacteria of the genus ACTINOBACILLUS." [MESH:D000189]
synonym: "Actinobacillus Infection" EXACT []
synonym: "Actinobacillus infectious disease" EXACT []
xref: EFO:1000793
xref: MESH:D000189
is_a: DOID:9008746 ! Pasteurellaceae Infections

[Term]
id: DOID:9007042
name: syndromic X-linked intellectual disability 33
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33" EXACT []
synonym: "MRXS33" EXACT []
synonym: "syndromic X-linked intellectual developmental disorder 33" EXACT []
synonym: "Syndromic X-Linked Mental Retardation 33" EXACT []
synonym: "TAF1-RELATED CONDITION" BROAD []
synonym: "TAF1-RELATED SYNDROMIC INTELLECTUAL DISABILITY" EXACT []
xref: MIM:300966
is_a: DOID:0060309 ! syndromic X-linked intellectual disability

[Term]
id: DOID:9007043
name: Dermatoleukodystrophy
alt_id: MIM:221790
xref: MESH:C538220
is_a: DOID:37 ! skin disease
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9007044
name: Florid Cemento-Osseous Dysplasia
xref: MESH:C537063
xref: RDO:0002826
is_a: DOID:1019 ! osteomyelitis
is_a: DOID:9008267 ! Fibrous Dysplasia of Bone

[Term]
id: DOID:9007046
name: Cranioacrofacial Syndrome
alt_id: MIM:122850
xref: MESH:C565147
xref: MONDO:0007393
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9007047
name: Infectious Bone Diseases
def: "Bone diseases caused by pathogenic microorganisms." [MESH:D001850]
synonym: "Infectious Bone Disease" EXACT []
xref: MESH:D001850
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:9007048
name: Schmid-Fraccaro Syndrome
alt_id: MIM:115470
synonym: "Cat Eye syndrome" EXACT []
synonym: "CES" EXACT []
synonym: "Chromosome 22 partial tetrasomy" EXACT []
synonym: "INV DUP(22)(Q11)" EXACT []
xref: MESH:C535918
xref: NCI:C75477
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9008692 ! Aneuploidy

[Term]
id: DOID:9007049
name: Bone Marrow Failure Syndrome 2
synonym: "BMFS2" EXACT []
synonym: "ERCC6L2-RELATED CONDITION" EXACT []
xref: MIM:615715
is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes

[Term]
id: DOID:9007050
name: Bluetongue
def: "A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet." [MESH:D001819]
synonym: "Blue Tongue" EXACT []
xref: MESH:D001819
is_a: DOID:9006097 ! Sheep Diseases
is_a: DOID:9006487 ! Reoviridae Infections
is_a: DOID:9007579 ! Arbovirus Infections

[Term]
id: DOID:9007051
name: Autosomal Dominant Tubulointerstitial Kidney Disease 1
alt_id: MESH:C548033
alt_id: MESH:C563693
alt_id: MIM:162000
def: "This disease is an adult-onset, slowly progressive renal disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure. The onset of symptoms is usually in the third or fourth decade, although earlier and later onset have been reported." []
synonym: "ADMCKD2" EXACT []
synonym: "ADTKD1" EXACT []
synonym: "familial gout-kidney disease" EXACT []
synonym: "Familial Gouty Nephropathy" EXACT []
synonym: "FAMILIAL JUVENILE GOUT" NARROW []
synonym: "Familial Juvenile Hyperuricemic Nephropathy 1" EXACT []
synonym: "familial nephropathy with gout" EXACT []
synonym: "Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria" EXACT []
synonym: "GOUTY NEPHROPATHY, FAMILIAL JUVENILE" EXACT []
synonym: "HNFJ1" EXACT []
synonym: "Hyperuricemic Nephropathy, Familial Juvenile 1" EXACT []
synonym: "Juvenile Gout" EXACT []
synonym: "MCKD2" EXACT []
synonym: "Medullary Cystic Kidney Disease 2" EXACT []
synonym: "medullary cystic kidney disease 2, autosomal dominant" EXACT []
synonym: "Medullary Cystic Kidney Disease Type II" EXACT []
synonym: "UMOD-associated kidney disease" EXACT []
synonym: "UMOD-RELATED CONDITION" EXACT []
synonym: "UMOD-related kidney disease" EXACT []
synonym: "uromodulin-associated kidney disease" EXACT []
synonym: "uromodulin storage disease" EXACT []
xref: EFO:0008618
xref: MESH:C537696
is_a: DOID:0060062 ! familial juvenile hyperuricemic nephropathy
is_a: DOID:13189 ! gout
is_a: DOID:2975 ! cystic kidney disease

[Term]
id: DOID:9007052
name: Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay
alt_id: MIM:613076
synonym: "combined mitochondrial complex deficiency" EXACT []
synonym: "mitochondrial progressive myopathy with congenital cataract and developmental delay" EXACT []
synonym: "MPMCD" EXACT []
synonym: "myopathy with cataract and combined respiratory chain deficiency" EXACT []
synonym: "progressive axial myopathy with cataracts" NARROW []
xref: MESH:C567769
is_a: DOID:699 ! mitochondrial myopathy
is_a: DOID:83 ! cataract
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9007054
name: Ventricular Septal Defect 2
synonym: "VSD2" EXACT []
xref: MIM:614431
xref: RDO:9000852
is_a: DOID:1657 ! ventricular septal defect

[Term]
id: DOID:9007055
name: Central Areolar Choroidal Dystrophy 3
alt_id: MIM:613144
synonym: "CACD3" EXACT []
synonym: "central areolar choroidal dystrophy with or without drusen" EXACT []
xref: MESH:C567729
is_a: DOID:9822 ! partial central choroid dystrophy

[Term]
id: DOID:9007056
name: Congenital Disorder of Glycosylation Type IIy
def: "An autosomal recessive multisystemic congenital disorder characterized by poor overall growth and global developmental delay with impaired intellectual development. Caused by compound heterozygous mutations in the GET4 gene on chromosome 7p22." [MIM:620200]
synonym: "CDG2Y" EXACT []
synonym: "CDG IIy" EXACT []
synonym: "CDGIIY" EXACT []
xref: MIM:620200
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
created_by: mtutaj
creation_date: 2023-01-20T08:17:04Z

[Term]
id: DOID:9007057
name: Subacute Necrotizing Encephalomyelopathy of Leigh, Adult
alt_id: MIM:161700
synonym: "Leigh Syndrome, Adult" EXACT []
xref: MESH:C563530
is_a: DOID:3652 ! Leigh disease
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:9007058
name: Primitive Peripheral Neuroectodermal Tumors
def: "A group of highly cellular primitive round cell neoplasms which occur extracranially in soft tissue and bone and are derived from embryonal neural crest cells. These tumors occur primarily in children and adolescents and share a number of characteristics with EWING SARCOMA." [MESH:D018241]
synonym: "(pPNET) peripheral primitive neuroectodermal tumors" EXACT []
synonym: "Extracranial Primitive Neuroectodermal Tumor" EXACT []
synonym: "Peripheral Neuroectodermal Tumor" EXACT []
synonym: "peripheral neuroectodermal tumors" EXACT []
synonym: "Peripheral Neuroepithelioma" EXACT []
synonym: "Peripheral Neuroepitheliomas" EXACT []
synonym: "peripheral primitive neuroectodermal neoplasm" EXACT []
synonym: "primitive peripheral neuroectodermal tumor" EXACT []
xref: MESH:D018241
xref: MONDO:0018271
is_a: DOID:9002904 ! Primitive Neuroectodermal Tumors

[Term]
id: DOID:9007059
name: Thyroid Hormone Plasma Membrane Transport Defect
alt_id: MIM:188560
synonym: "eumetabolic hyperthyroxinemia due to T4 plasma membrane transport" EXACT []
synonym: "thyroid hormone resistance due to T4 plasma membrane transport defect" EXACT []
xref: MESH:C536916
is_a: DOID:2855 ! hyperthyroxinemia

[Term]
id: DOID:9007061
name: Glycosylphosphatidylinositol Biosynthesis Defect 1
synonym: "GPIBD1" EXACT []
xref: MIM:610293
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
created_by: mtutaj
creation_date: 2023-05-30T15:48:05Z

[Term]
id: DOID:9007062
name: Rare Diseases
def: "A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment." [MESH:D035583]
synonym: "Orphan Disease" EXACT []
synonym: "Orphan Diseases" EXACT []
synonym: "Rare Disease" EXACT []
xref: MESH:D035583
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9007063
name: Myoclonic Epilepsy, Familial Infantile
synonym: "EIM" EXACT []
synonym: "FIME" EXACT []
xref: MIM:605021
xref: RDO:0008964
is_a: DOID:9005154 ! Myoclonic Epilepsies

[Term]
id: DOID:9007064
name: Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
alt_id: MIM:608728
synonym: "SEMDBCD" EXACT []
synonym: "SEMD, MATN3-related" EXACT []
synonym: "spondyloepimetaphyseal dysplasia, MATN3-related" EXACT []
synonym: "spondyloepimetaphyseal dysplasia, matrilin-3 related" EXACT []
xref: MESH:C563869
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia

[Term]
id: DOID:9007065
name: Myopia 11
alt_id: MIM:609994
synonym: "MYOPIA 11, AUTOSOMAL DOMINANT" EXACT []
synonym: "MYP11" EXACT []
xref: MESH:C566490
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9007066
name: Fibrous Hamartoma of Infancy
def: "This is a rare, benign soft tissue tumor that typically occurs within the first two years of life. It is a poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern" [EFO:1000257, HP:0100882]
synonym: "fibrous hamartoma" EXACT []
xref: EFO:1000257
xref: HP:0100882
is_a: DOID:9007253 ! Hamartoma
created_by: slaulede
creation_date: 2022-09-01T14:18:55Z

[Term]
id: DOID:9007067
name: Mesenteric Cyst
def: "A rare intra-abdominal tumor in the MESENTERY. Mesenteric cysts are usually benign and can be very large fluid-filled (2000 mL) lesions." [MESH:D008639]
synonym: "Mesenteric Cysts" EXACT []
xref: MESH:D008639
is_a: DOID:9001834 ! Peritoneal Neoplasms
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9007068
name: Familial Partial Lipodystrophy Type 8
def: "An autosomal dominant disorder characterized by abnormal distribution of subcutaneous adipose tissue. Caused by heterozygous mutation in the ADRA2A gene on chromosome 10q25." [MIM:620679]
synonym: "FPLD8" EXACT []
synonym: "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8" EXACT []
xref: MIM:620679
is_a: DOID:0050440 ! familial partial lipodystrophy
created_by: tutajm
creation_date: 2024-01-19T10:52:09Z

[Term]
id: DOID:9007069
name: Hyperphosphatemic Familial Tumoral Calcinosis 2
synonym: "HFTC2" EXACT []
xref: EFO:0009383
xref: MIM:617993
is_a: DOID:0111063 ! hyperphosphatemic familial tumoral calcinosis
created_by: mtutaj
creation_date: 2019-05-02T09:08:48Z

[Term]
id: DOID:9007070
name: Silver-Russell Syndrome 1
def: "Clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. Hypomethylation at distal chromosome 11p15 (ICR1) represents a major cause of the disorder." [MIM:180860 "RGD"]
synonym: "SRS1" EXACT []
xref: MIM:180860
is_a: DOID:14681 ! Silver-Russell syndrome
created_by: mtutaj
creation_date: 2020-06-15T13:32:37Z

[Term]
id: DOID:9007071
name: Hereditary Neoplastic Syndromes
def: "The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance." [MESH:D009386]
synonym: "hereditary cancer" EXACT []
synonym: "HEREDITARY CANCER-PREDISPOSING SYNDROME" EXACT []
synonym: "Hereditary Cancer Syndrome" EXACT []
synonym: "hereditary cancer syndromes" EXACT []
synonym: "hereditary neoplastic syndrome" EXACT []
xref: MESH:D009386
is_a: DOID:14566 ! disease of cellular proliferation
is_a: DOID:225 ! syndrome
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9007072
name: Social Communication Disorder
def: "Persistent difficulties in the social uses of verbal and nonverbal communications. (DSM-V)" [MESH:D000067404]
synonym: "Pragmatic Communication Disorder" EXACT []
synonym: "Pragmatic Communication Disorders" EXACT []
synonym: "Social Communication Disorders" EXACT []
xref: MESH:D000067404
xref: RDO:0016027
is_a: DOID:2033 ! communication disorder

[Term]
id: DOID:9007073
name: Cough
def: "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. It is a protective response that serves to clear the trachea, bronchi, and/or lungs of irritants and secretions, or to prevent aspiration of foreign materials into the lungs." [MESH:D003371]
synonym: "Coughs" EXACT []
xref: MESH:D003371
is_a: DOID:9000575 ! Respiratory Signs and Symptoms
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:9007074
name: Camptodactyly-Ichthyosis Syndrome
alt_id: MIM:211965
xref: MESH:C537976
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9007075
name: Congenital Prothrombin Deficiency
def: "n extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein." []
synonym: "DYSPROTHROMBINEMIA" RELATED []
synonym: "HEREDITARY FACTOR II DEFICIENCY DISEASE" EXACT []
synonym: "HYPOPROTHROMBINEMIA" EXACT []
synonym: "PROLONGED PROTHROMBIN TIME" RELATED []
synonym: "PROTHROMBIN DEFICIENCY, CONGENITAL" EXACT []
xref: MIM:613679
is_a: DOID:2235 ! prothrombin deficiency

[Term]
id: DOID:9007076
name: Alopecia Congenita Keratosis Palmoplantaris
synonym: "Alopecia congenita with hyperkeratosis of the palms and soles" EXACT []
synonym: "Alopecia Congenita With Keratosis Palmoplantaris" EXACT []
xref: MESH:C537050
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9007077
name: Actin-Accumulation Myopathy
synonym: "Actin Filament Aggregate Myopathy" EXACT []
synonym: "Actin Myopathy" EXACT []
synonym: "Congenital Myopathy with Excess of Thin Filaments" EXACT []
xref: MESH:C579880
xref: RDO:0015860
is_a: DOID:422 ! congenital structural myopathy

[Term]
id: DOID:9007078
name: Hip Dislocation
def: "Displacement of the femur bone from its normal position at the HIP JOINT." [MESH:D006617]
synonym: "Hip Dislocations" EXACT []
synonym: "Hip Displacement" EXACT []
synonym: "Hip Displacements" EXACT []
synonym: "Hip Dysplasia" EXACT []
xref: MESH:D006617
xref: RDO:0005805
is_a: DOID:9003279 ! Joint Dislocations
is_a: DOID:9008860 ! Hip Injuries

[Term]
id: DOID:9007079
name: IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY
synonym: "IGKCD" EXACT []
synonym: "KAPPA CHAIN DEFICIENCY" EXACT []
xref: MESH:C564131
xref: MIM:614102
xref: RDO:0013191
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9007080
name: Prostate Cancer, Hereditary, 6
alt_id: MIM:609558
synonym: "HPC6" EXACT []
xref: MESH:C563699
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9007081
name: Cluster Headache
def: "A primary headache disorder that is characterized by severe, strictly unilateral PAIN which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial SWEATING, eyelid EDEMA, and miosis. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" [MESH:D003027]
synonym: "Atypical Cluster Headache" EXACT []
synonym: "Atypical Cluster Headaches" EXACT []
synonym: "Chronic Cluster Headache" EXACT []
synonym: "Chronic Cluster Headaches" EXACT []
synonym: "Ciliary Neuralgia" EXACT []
synonym: "Ciliary Neuralgias" EXACT []
synonym: "Cluster Headaches" EXACT []
synonym: "Cluster Headache Syndrome" EXACT []
synonym: "Cluster Headache Syndromes" EXACT []
synonym: "Episodic Cluster Headache" EXACT []
synonym: "Episodic Cluster Headaches" EXACT []
synonym: "Histamine Cephalgia" EXACT []
synonym: "Histamine Cephalgias" EXACT []
synonym: "Horton's Syndrome" EXACT []
synonym: "Hortons Syndrome" EXACT []
synonym: "Horton Syndrome" EXACT []
synonym: "Neuralgic Migraine" EXACT []
synonym: "Neuralgic Migraines" EXACT []
xref: MESH:D003027
xref: NCI:C17077
xref: ORDO:1002
is_a: DOID:9006338 ! Trigeminal Autonomic Cephalalgias

[Term]
id: DOID:9007082
name: Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma
alt_id: MIM:601952
synonym: "KLICK" EXACT []
synonym: "KLICK Syndrome" EXACT []
xref: MESH:C566600
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9007083
name: Edentulous Mouth
def: "Total lack of teeth through disease or extraction." [MESH:D009066]
synonym: "edentulous mouths" EXACT []
synonym: "toothless mouth" EXACT []
xref: MESH:D009066
is_a: DOID:1091 ! tooth disease
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:9007084
name: Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities
alt_id: RDO:0015432
xref: MESH:C567328
is_a: DOID:5212 ! congenital disorder of glycosylation

[Term]
id: DOID:9007085
name: Monosomy 7 Myelodysplasia and Leukemia Syndrome 1
alt_id: MIM:252270
synonym: "chromosome 7q deletion" EXACT []
synonym: "M7MLS1" EXACT []
synonym: "MLSM7" EXACT []
synonym: "monosomy 7 of bone marrow" EXACT []
synonym: "myelodysplasia and leukemia syndrome with monosomy 7" EXACT []
xref: MESH:C565370
is_a: DOID:9009254 ! Monosomy 7 Myelodysplasia and Leukemia Syndrome

[Term]
id: DOID:9007086
name: Myoclonic Nystagmus
alt_id: MIM:310800
xref: MESH:C564088
is_a: DOID:9007722 ! Myoclonus
is_a: DOID:9650 ! pathologic nystagmus

[Term]
id: DOID:9007087
name: Moyamoya Disease 6 with Achalasia
synonym: "MYMY6" EXACT []
xref: MIM:615750
is_a: DOID:13099 ! Moyamoya disease
is_a: DOID:9164 ! achalasia

[Term]
id: DOID:9007088
name: Chromosome 3, Trisomy 3q13 2 q25
synonym: "Duplication 3q13.2 q25" EXACT []
synonym: "Trisomy 3q13 2 q25" EXACT []
xref: MESH:C537634
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9007089
name: Lethal Bone Dysplasia, Holmgren Type
alt_id: MIM:211120
xref: MESH:C565896
is_a: DOID:0080006 ! bone development disease

[Term]
id: DOID:9007090
name: Experimental Seizures
def: "Seizures that are induced in experimental animals, often initiated by the injection of a drug, such as kainic acid, pilocarpine, or pentetrazole." []
synonym: "experimental epilepsy" EXACT []
is_a: DOID:9006205 ! Animal Disease Models
created_by: rgd
creation_date: 2015-06-25T00:00:00Z

[Term]
id: DOID:9007091
name: Lymphangiomyoma
def: "A tumorlike condition characterized by SMOOTH MUSCLE and ENDOTHELIUM proliferation of LYMPHATIC VESSELS and LYMPH NODES in the MEDIASTINUM and retroperitoneum, also in the lung. It may be manifested by chylous PLEURAL EFFUSION and ASCITES." [MESH:D008203]
synonym: "Lymphangioleiomyoma" EXACT []
synonym: "Lymphangioleiomyomas" EXACT []
synonym: "Lymphangiomyomas" EXACT []
xref: EFO:1001027
xref: MESH:D008203
xref: RDO:0006039
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:9003008 ! Lymphatic Vessel Tumors

[Term]
id: DOID:9007092
name: Preeyasombat Varavithya Syndrome
synonym: "Fanconi syndrome caused by degraded tetracycline" EXACT []
xref: MESH:C535269
xref: RDO:0000247
is_a: DOID:1062 ! Fanconi syndrome
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9007093
name: Combined Defect of Growth Factors
alt_id: MIM:233805
synonym: "Insulin, Insulin-Like Growth Factor I, and Epidermal Growth Factor Deficiency" EXACT []
synonym: "Werner-Like Syndrome due to Combined Growth Factor Deficiency" EXACT []
xref: MESH:C565529
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9007094
name: Hypercalcemia, Infantile, 1
alt_id: MIM:143880
synonym: "CYP24A1-RELATED CONDITION" EXACT []
synonym: "HCINF1" EXACT []
synonym: "Idiopathic Hypercalcemia of Infancy" EXACT []
xref: MESH:C562581
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9005216 ! Infantile Hypercalcemia

[Term]
id: DOID:9007095
name: Pneumoperitoneum
def: "A condition with trapped gas or air in the PERITONEAL CAVITY, usually secondary to perforation of the internal organs such as the LUNG and the GASTROINTESTINAL TRACT, or to recent surgery. Pneumoperitoneum may be purposely introduced to aid radiological examination." [MESH:D011027]
xref: MESH:D011027
xref: RDO:0006383
is_a: DOID:9006175 ! Peritoneal Diseases

[Term]
id: DOID:9007096
name: Stroke
alt_id: MIM:606799
def: "A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)" [MESH:D020521]
synonym: "Acute Cerebrovascular Accident" EXACT []
synonym: "Acute Cerebrovascular Accidents" EXACT []
synonym: "Acute Stroke" EXACT []
synonym: "Acute Strokes" EXACT []
synonym: "Apoplexy" EXACT []
synonym: "Brain Vascular Accident" EXACT []
synonym: "Brain Vascular Accidents" EXACT []
synonym: "Cerebral Stroke" EXACT []
synonym: "Cerebral Strokes" EXACT []
synonym: "cerebrovascular accident" EXACT []
synonym: "Cerebrovascular Accidents" EXACT []
synonym: "Cerebrovascular Apoplexy" EXACT []
synonym: "Cerebrovascular Stroke" EXACT []
synonym: "Cerebrovascular Strokes" EXACT []
synonym: "CVA" EXACT []
synonym: "post-operative stroke" NARROW []
synonym: "small vessel stroke" NARROW []
synonym: "STRK1" EXACT []
synonym: "strokes" EXACT []
synonym: "stroke, susceptibility to, 1" RELATED []
xref: EFO:0000712
xref: EFO:0009956
xref: EFO:1001504
xref: MESH:D020521
is_a: DOID:6713 ! cerebrovascular disease

[Term]
id: DOID:9007097
name: Microcephaly with Simplified Gyral Pattern
alt_id: MIM:603802
synonym: "SIMPLIFIED GYRAL PATTERN" NARROW []
xref: MESH:C566332
is_a: DOID:10907 ! microcephaly

[Term]
id: DOID:9007098
name: Pulmonary Atresia
def: "A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breathing, CYANOSIS, right ventricle atrophy, and abnormal heart sounds (HEART MURMURS)." [MESH:D018633]
synonym: "PULMONARY ARTERY ATRESIA" EXACT []
synonym: "Pulmonary Atresias" EXACT []
synonym: "Pulmonary Valve Atresia" EXACT []
synonym: "Pulmonary Valve Atresias" EXACT []
xref: MESH:D018633
is_a: DOID:4079 ! heart valve disease
is_a: DOID:9003191 ! Vascular Malformations

[Term]
id: DOID:9007099
name: Aplasia Cutis Congenita of Limbs Recessive
alt_id: MIM:600360
synonym: "Congenital absence of skin on the upper or lower limbs" EXACT []
synonym: "Recessive aplasia cutis congenita of the limbs" EXACT []
xref: MESH:C536840
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9574 ! choanal atresia

[Term]
id: DOID:9007100
name: Ulnar Nerve Compression Syndromes
def: "Ulnar neuropathies caused by mechanical compression of the nerve at any location from its origin at the BRACHIAL PLEXUS to its terminations in the hand. Common sites of compression include the retroepicondylar groove, cubital tunnel at the elbow (CUBITAL TUNNEL SYNDROME), and Guyon's canal at the wrist. Clinical features depend on the site of injury, but may include weakness or paralysis of wrist flexion, finger flexion, and ulnar innervated intrinsic hand muscles, and impaired sensation over the ulnar aspect of the hand, fifth finger, and ulnar half of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" [MESH:D017769]
synonym: "Guyon Syndrome" EXACT []
synonym: "Guyon Syndromes" EXACT []
synonym: "Ulnar Nerve Compression" EXACT []
synonym: "Ulnar Nerve Compressions" EXACT []
synonym: "Ulnar Nerve Entrapment" EXACT []
synonym: "Ulnar Nerve Entrapment at the Wrist" EXACT []
synonym: "Ulnar Nerve Entrapments" EXACT []
synonym: "Ulnar Nerve Entrapment Syndrome" EXACT []
synonym: "Ulnar Nerve External Compression Syndrome" EXACT []
xref: MESH:D017769
is_a: DOID:4613 ! ulnar neuropathy
is_a: DOID:573 ! nerve compression syndrome
is_a: DOID:9004498 ! Cumulative Trauma Disorders

[Term]
id: DOID:9007101
name: Isolated Microphthalmia with Cataract 2
synonym: "MCOPCT2" EXACT []
synonym: "microphthalmia and cataract 2" EXACT []
synonym: "microphthalmia, cataract, and nystagmus" EXACT []
xref: MESH:C565876
is_a: DOID:0080637 ! isolated microphthalmia
is_a: DOID:83 ! cataract
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:9007102
name: Myocardial Ischemia
def: "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)." [MESH:D017202]
synonym: "Ischemic Heart Disease" EXACT []
synonym: "Ischemic Heart Diseases" EXACT []
synonym: "Ischemic heart disease, susceptibility to" RELATED []
synonym: "Myocardial Ischemias" EXACT []
synonym: "SUPEROXIDE DISMUTASE, ELEVATED EXTRACELLULAR" RELATED []
xref: EFO:1001375
xref: MESH:D017202
is_a: DOID:114 ! heart disease
is_a: DOID:178 ! vascular disease
is_a: DOID:326 ! ischemia

[Term]
id: DOID:9007103
name: Osteolysis Syndrome, Recessive
alt_id: MIM:259610
synonym: "distal osteolysis with short stature, mental retardation, and characteristic facial appearance" EXACT []
xref: MESH:C536052
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9006081 ! Osteolysis
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9007104
name: Oocyte/Zygote/Embryo Maturation Arrest 14
def: "A female infertility due to oocyte maturation arrest, fertilization failure, and/or early embryonic arrest. Caused by homozygous or compound heterozygous mutation in the CDC20 gene on chromosome 1p34." [MIM:620276]
synonym: "Oocyte Maturation Defect 14" EXACT []
synonym: "OOMD14" EXACT []
synonym: "OZEMA14" EXACT []
xref: MIM:620276
is_a: DOID:9007456 ! Female Infertility
created_by: mtutaj
creation_date: 2023-03-08T13:02:54Z

[Term]
id: DOID:9007105
name: Hyperemesis Gravidarum
alt_id: MIM:620730
def: "Intractable VOMITING that develops in early PREGNANCY and persists. This can lead to DEHYDRATION and WEIGHT LOSS." [MESH:D006939]
synonym: "Hyperemesis gravidarum, susceptibility to" RELATED []
synonym: "Pernicious Vomiting of Pregnancy" EXACT []
synonym: "Pregnancy Pernicious Vomiting" EXACT []
xref: EFO:1000971
xref: MESH:D006939
is_a: DOID:9004688 ! Morning Sickness

[Term]
id: DOID:9007106
name: Hereditary Neurocutaneous Angioma
alt_id: MIM:106070
xref: MESH:C536364
is_a: DOID:255 ! hemangioma
is_a: DOID:9001734 ! Neurocutaneous Syndromes

[Term]
id: DOID:9007107
name: Cataract, Age-Related Nuclear
alt_id: MIM:601371
alt_id: RDO:0012620
synonym: "Nuclear Sclerosis of the Lens" EXACT []
xref: MESH:C563333
is_a: DOID:83 ! cataract

[Term]
id: DOID:9007108
name: Congenital Agenesis of the Tricuspid Valve
xref: MESH:C531836
is_a: DOID:0080169 ! tricuspid atresia

[Term]
id: DOID:9007109
name: Rhegmatogenous Retinal Detachment, Autosomal Dominant
def: "This is a hereditary autosomal dominant disorder characterized by retinal detachment due to retinal tearing at the time of posterior vitreous detachment and PATHOLOGICAL MYOPIA" [MESH:C563710]
synonym: "DRRD" EXACT []
synonym: "rhegmatogenous retinal detachment" BROAD []
xref: EFO:0005240
xref: MESH:C563710
is_a: DOID:5327 ! retinal detachment
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9007110
name: Subacute Combined Degeneration
def: "A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA." [MESH:D052879]
synonym: "Subacute Combined Neuropathy Degeneration" EXACT []
xref: EFO:1001428
xref: MESH:D052879
is_a: DOID:0050731 ! vitamin B12 deficiency
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:319 ! spinal cord disease
is_a: DOID:3213 ! demyelinating disease
is_a: DOID:9002955 ! Nerve Degeneration

[Term]
id: DOID:9007111
name: Atypical Squamous Cells of the Cervix
def: "Morphological abnormalities of the cervical EPITHELIUM, usually revealed in PAP SMEAR, which do not meet the criteria for squamous CERVICAL INTRAEPITHELIAL NEOPLASIA or SQUAMOUS CELL CARCINOMAS of the CERVIX . It may be a sign of infection with certain types of human papillomavirus (HPV).or sign of a benign (not cancer) growth, such as a cyst or polyp or, in menopausal women, of low hormone levels. More testing, such as HPV test, may be needed." [MESH:D065309]
synonym: "ASC Atypical Squamous Cells" EXACT []
synonym: "ASC H Atypical Squamous Cells, Cannot Rule Out High Grade Squamous Intra epithelial Lesion" EXACT []
synonym: "ASC-US" EXACT []
synonym: "ASCUS" EXACT []
synonym: "Atypical Cervical Squamous Cells" EXACT []
synonym: "Atypical Squamous Cell" EXACT []
synonym: "Atypical Squamous Cells" EXACT []
synonym: "Atypical Squamous Cells, Cannot Rule Out High Grade Squamous Intra Epithelial Lesion" EXACT []
synonym: "Atypical Squamous Cells of Undetermined Significance" EXACT []
xref: MESH:D065309
xref: RDO:0015970
is_a: DOID:9002760 ! Morphological and Microscopic Findings
is_a: DOID:9006096 ! Uterine Cervical Dysplasia

[Term]
id: DOID:9007113
name: Teebi Naguib Al Awadi syndrome
synonym: "Al Awadi Teebi Farag syndrome" EXACT []
synonym: "Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence" EXACT []
xref: MESH:C536949
xref: RDO:0002678
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9007114
name: Mobility Limitation
def: "Difficulty in walking from place to place." [MESH:D051346]
synonym: "Ambulation Difficulties" EXACT []
synonym: "Ambulation Difficulty" EXACT []
synonym: "Ambulatory Difficulties" EXACT []
synonym: "Ambulatory Difficulty" EXACT []
synonym: "Difficulty Walking" EXACT []
synonym: "Mobility Limitations" EXACT []
xref: MESH:D051346
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9007115
name: Adult Acne
alt_id: MIM:604324
xref: MESH:C565791
is_a: DOID:6543 ! acne

[Term]
id: DOID:9007116
name: Snake Bites
def: "Bites by snakes. Bite by a venomous snake is characterized by stinging pain at the wound puncture. The venom injected at the site of the bite is capable of producing a deleterious effect on the blood or on the nervous system. (Webster's 3d ed; from Dorland, 27th ed, at snake, venomous)" [MESH:D012909]
synonym: "Snake Bite" EXACT []
synonym: "Snakebite" EXACT []
synonym: "Snakebites" EXACT []
synonym: "Snake Envenomation" EXACT []
synonym: "Snake Envenomations" EXACT []
xref: MESH:D012909
is_a: DOID:9002550 ! Bites and Stings

[Term]
id: DOID:9007118
name: Familial Hypercholanemia
synonym: "FHCA" EXACT []
synonym: "hypercholanemia" EXACT []
xref: MESH:C564336
xref: MIM:PS607748
is_a: DOID:1701 ! steroid inherited metabolic disorder

[Term]
id: DOID:9007119
name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6
def: "Highly variable symptoms mainly affecting the hematopoietic or pulmonary systems. Caused by heterozygous mutation in the RPA1 gene on chromosome 17p13." [MIM:619767]
synonym: "PFBMFT6" EXACT []
synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 6" EXACT []
synonym: "RPA1-RELATED SHORT TELOMERE SYNDROME" EXACT []
xref: MIM:619767
is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related
created_by: mtutaj
creation_date: 2022-03-07T11:38:19Z

[Term]
id: DOID:9007120
name: Meckel Syndrome 11
synonym: "Meckel Syndrome, Type 11" EXACT []
synonym: "MKS11" EXACT []
xref: MIM:615397
is_a: DOID:0050778 ! Meckel syndrome

[Term]
id: DOID:9007121
name: Baker-Winegrad Disease
synonym: "Autosomal recessive fructose 1, 6-diphosphatase deficiency" EXACT []
xref: MESH:C537900
xref: RDO:0003811
is_a: DOID:5204 ! fructose-1,6-bisphosphatase deficiency

[Term]
id: DOID:9007122
name: Acitretin Embryopathy
synonym: "Acitretine embryofetopathy" EXACT []
xref: MESH:C538169
xref: RDO:0004108
is_a: DOID:9007828 ! Abnormalities, Drug-Induced

[Term]
id: DOID:9007123
name: Radiation Induced Meningioma
alt_id: MIM:606190
synonym: "MNRI" EXACT []
xref: MESH:C536266
is_a: DOID:3565 ! meningioma
is_a: DOID:9000277 ! Radiation-Induced Neoplasms

[Term]
id: DOID:9007124
name: Chromosome 1, Uniparental Disomy 1q12 q21
synonym: "Mosaic trisomy 1q12 q21" EXACT []
synonym: "Uniparental disomy 1q12 q21" EXACT []
xref: MESH:C538085
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:9007126
name: Coffin Syndrome 1
synonym: "Dwarfism, lean spastic type" EXACT []
synonym: "Lean spastic dwarfism" EXACT []
xref: MESH:C536435
is_a: DOID:0060249 ! scoliosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:4667 ! kyphosis
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9007128
name: Progressive External Ophthalmoplegia with Hypogonadism
xref: MESH:C563576
xref: RDO:0012799
is_a: DOID:1924 ! hypogonadism
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9007129
name: Autoimmune Oophoritis
xref: MESH:C538274
is_a: DOID:10974 ! oophoritis
is_a: DOID:14040 ! autoimmune polyendocrine syndrome

[Term]
id: DOID:9007130
name: Chromosome 4, Monosomy 4q32
synonym: "Deletion 4q32" EXACT []
synonym: "Monosomy 4q32" EXACT []
xref: MESH:C537640
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9007131
name: Polydactyly-Macrocephaly Syndrome
def: "A disease characterized by postaxial polydactyly and progressive macrocephaly. Caused by heterozygous mutation in the MAX gene on chromosome 14q23." [MIM:620712]
synonym: "PDMCS" EXACT []
xref: MIM:620712
is_a: DOID:9003071 ! Postaxial Polydactyly
is_a: DOID:9003816 ! Macrocephaly
created_by: tutajm
creation_date: 2024-02-12T10:26:55Z

[Term]
id: DOID:9007132
name: Umbilical Cord Ulceration and Intestinal Atresia
synonym: "Umbilical cord ulcer with intestinal atresia" EXACT []
synonym: "Umbilical ulceration and intestinal atresia" EXACT []
xref: MESH:C536938
is_a: DOID:10486 ! intestinal atresia
is_a: DOID:9005175 ! Ulcer

[Term]
id: DOID:9007134
name: Neoplastic Pregnancy Complications
def: "The co-occurrence of pregnancy and NEOPLASMS. The neoplastic disease may precede or follow FERTILIZATION." [MESH:D011252]
synonym: "Neoplastic Pregnancy Complication" EXACT []
synonym: "Pregnancies, Neoplastic Complications" EXACT []
xref: MESH:D011252
is_a: DOID:14566 ! disease of cellular proliferation
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9007135
name: Eosinophilic Fasciitis
alt_id: MIM:226350
xref: MESH:C562487
xref: NCI:C112116
xref: ORDO:3165
is_a: DOID:9001371 ! Eosinophilia
is_a: DOID:9598 ! fasciitis

[Term]
id: DOID:9007136
name: Atrioventricular Septal Defect 3
synonym: "AVSD3" EXACT []
is_a: DOID:0050651 ! atrioventricular septal defect

[Term]
id: DOID:9007137
name: Hepatic Lipase Deficiency
synonym: "HL deficiency" EXACT []
synonym: "hyperlipidemia due to hepatic triacylglycerol lipase deficiency" EXACT []
synonym: "hyperlipidemia due to hepatic triglyceride lipase deficiency" EXACT []
synonym: "hyperlipidemia due to HL deficiency" EXACT []
synonym: "hyperlipidemia due to HTGL deficiency" EXACT []
synonym: "LIPC deficiency" EXACT []
xref: GARD:12864
xref: MIM:614025
xref: MONDO:0013533
xref: ORDO:140905
is_a: DOID:1168 ! familial hyperlipidemia

[Term]
id: DOID:9007138
name: Cd4+ Lymphocyte Deficiency
xref: MESH:C566079
xref: RDO:0014542
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9007139
name: Hyperphenylalaninemia, Non-Pku Mild
xref: MESH:C567494
is_a: DOID:9281 ! phenylketonuria

[Term]
id: DOID:9007140
name: Spinal Muscular Atrophy with Congenital Bone Fractures 1
alt_id: MIM:616866
synonym: "SMABF1" EXACT []
synonym: "Spinal Muscular Atrophy Type I, with Congenital Bone Fractures" EXACT []
synonym: "TRIP4-RELATED CONDITION" BROAD []
xref: MESH:C564805
is_a: DOID:9004171 ! Spinal Muscular Atrophy with Congenital Bone Fractures

[Term]
id: DOID:9007141
name: Normokalemic Periodic Paralysis, Potassium-Sensitive
alt_id: MIM:170600
xref: MESH:C566809
is_a: DOID:1029 ! familial periodic paralysis

[Term]
id: DOID:9007142
name: Peroxisome Biogenesis Disorder, Complementation Group G
xref: MESH:C566406
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9007144
name: Moebius Axonal Neuropathy Hypogonadism
alt_id: RDO:0001115
xref: MESH:C535806
is_a: DOID:13501 ! Moebius syndrome
is_a: DOID:1924 ! hypogonadism

[Term]
id: DOID:9007145
name: Sarcoma 180
def: "An experimental sarcoma of mice." [MESH:D012510]
synonym: "Crocker Sarcoma 180" EXACT []
xref: MESH:D012510
is_a: DOID:9005474 ! Experimental Sarcoma

[Term]
id: DOID:9007146
name: Hypouricemia, Hypercalcinuria, and Decreased Bone Density
alt_id: MIM:242050
xref: MESH:C565475
is_a: DOID:10575 ! calcium metabolism disease
is_a: DOID:447 ! renal tubular transport disease
is_a: DOID:9002278 ! Metabolic Bone Diseases

[Term]
id: DOID:9007147
name: Glaucoma 3, Primary Infantile, B
alt_id: MIM:600975
synonym: "Glaucoma, Primary Congenital, Type B" EXACT []
synonym: "GLC3B" EXACT []
synonym: "GLC3, TYPE B" EXACT []
synonym: "Primary congenital glaucoma type 3B" EXACT []
xref: MESH:C536824
xref: RDO:0002517
is_a: DOID:0050593 ! primary congenital glaucoma
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:9007148
name: Blepharophimosis Syndrome Type 2
synonym: "blepharophimosis, ptosis, and epicanthus inversus type 2" EXACT []
synonym: "blepharophimosis, ptosis, and epicanthus inversus type II" EXACT []
synonym: "blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure" EXACT []
synonym: "BPES, type II" EXACT []
synonym: "BPES without ovarian failure" EXACT []
xref: MESH:C536234
is_a: DOID:14778 ! blepharophimosis, ptosis, and epicanthus inversus syndrome

[Term]
id: DOID:9007149
name: Uniparental Disomy of 11
synonym: "Paternal uniparental disomy for chromosome 11(type)" EXACT []
synonym: "Uniparental disomy of chromosome 11" EXACT []
xref: MESH:C536468
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:9007150
name: Urogenital Neoplasms
def: "Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." [MESH:D014565]
synonym: "Genito urinary Cancer" EXACT []
synonym: "Genitourinary Cancer" EXACT []
synonym: "Genito-urinary Cancers" EXACT []
synonym: "Genitourinary Cancers" EXACT []
synonym: "Genito-urinary Neoplasm" EXACT []
synonym: "Genitourinary Neoplasm" EXACT []
synonym: "Genito-urinary Neoplasms" EXACT []
synonym: "Genitourinary Neoplasms" EXACT []
synonym: "Urogenital Cancer" EXACT []
synonym: "Urogenital Cancers" EXACT []
synonym: "Urogenital Neoplasm" EXACT []
xref: EFO:0003863
xref: MESH:D014565
is_a: DOID:9005424 ! Neoplasms by Site
is_a: DOID:9009146 ! Urogenital Diseases

[Term]
id: DOID:9007151
name: Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis
synonym: "CRMO2" EXACT []
synonym: "deficiency of interleukin(IL)-1 receptor antagonist" EXACT []
synonym: "Deficiency of Interleukin-1 Receptor Antagonist" EXACT []
synonym: "Deficiency of interleukin-1 receptor antagonist (DIRA)" EXACT []
synonym: "DIRA" EXACT []
synonym: "interleukin 1 receptor antagonist deficiency" EXACT []
synonym: "OMPP" EXACT []
synonym: "sterile multifocal osteomyelitis, with periostitis and pustulosis" EXACT []
xref: GARD:10516
xref: MESH:C557815
xref: MIM:612852
xref: MONDO:0013021
xref: ORDO:210115
is_a: DOID:0060645 ! chronic recurrent multifocal osteomyelitis
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
is_a: DOID:9957 ! periostitis

[Term]
id: DOID:9007152
name: Talipes
def: "Deformity in which the foot is misaligned with respect to the TALUS in the ANKLE JOINT. While mostly congenital, as in CLUBFOOT, acquired deformities are included. Acquired talipedes are often associated with other foot deformities such as SYNDACTYLY and POLYDACTYLY." [MESH:D000070558]
synonym: "Talipedes" EXACT []
synonym: "Talipes Calcaneovarus" EXACT []
synonym: "Talipes Calcaneus" EXACT []
synonym: "Talipes Varus" EXACT []
xref: MESH:D000070558
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9000083 ! Foot Deformities, Acquired

[Term]
id: DOID:9007153
name: Pediatric Crohn's Disease
synonym: "pediatric onset Crohn's disease" EXACT []
xref: MESH:C536215
is_a: DOID:8778 ! Crohn's disease

[Term]
id: DOID:9007154
name: Choanal Atresia and Lymphedema
xref: MIM:613611
is_a: DOID:4977 ! lymphedema
is_a: DOID:9574 ! choanal atresia

[Term]
id: DOID:9007155
name: Oocyte/Zygote/Embryo Maturation Arrest 8
synonym: "Oocyte Maturation Defect 8" EXACT []
synonym: "OOMD8" EXACT []
synonym: "OZEMA8" EXACT []
xref: MIM:619009
is_a: DOID:9007456 ! Female Infertility
created_by: mtutaj
creation_date: 2020-09-05T07:48:37Z

[Term]
id: DOID:9007156
name: Enteritis
def: "Inflammation of any segment of the SMALL INTESTINE." [MESH:D004751]
synonym: "Enteritides" EXACT []
xref: MESH:D004751
xref: RDO:0001336
is_a: DOID:2326 ! gastroenteritis
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:9007157
name: Hydrocephalus, Autosomal Dominant
alt_id: MIM:123155
alt_id: RDO:0013084
synonym: "HDCPH1" EXACT []
xref: MESH:C563973
is_a: DOID:10908 ! hydrocephalus

[Term]
id: DOID:9007158
name: Prata Libéral Gonçalves Syndrome
synonym: "Brachydactyly, scoliosis, spina bifida occulta, and carpal synostosis" EXACT []
synonym: "Prata Liberal Goncalves syndrome" EXACT []
xref: MESH:C538277
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:0060249 ! scoliosis
is_a: DOID:0080073 ! spina bifida occulta
is_a: DOID:11971 ! synostosis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9007159
name: Nervous System Lead Poisoning
def: "Injury to the nervous system secondary to exposure to lead compounds. Two distinct clinical patterns occur in children (LEAD POISONING, NERVOUS SYSTEM, CHILDHOOD) and adults (LEAD POISONING, NERVOUS SYSTEM, ADULT). In children, lead poisoning typically produces an encephalopathy. In adults, exposure to toxic levels of lead is associated with a peripheral neuropathy." [MESH:D020263]
synonym: "Lead-Induced Nervous System Diseases" EXACT []
synonym: "Lead Neurotoxicity Syndrome" EXACT []
synonym: "Lead Neurotoxicity Syndromes" EXACT []
synonym: "Nervous System Plumbism" EXACT []
synonym: "Neurologic Lead Poisoning" EXACT []
synonym: "Neurologic Plumbism" EXACT []
xref: MESH:D020263
is_a: DOID:9001363 ! Heavy Metal Poisoning, Nervous System
is_a: DOID:9008914 ! Lead Poisoning

[Term]
id: DOID:9007160
name: Idiopathic Basal Ganglia Calcification 8
synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE" EXACT []
synonym: "IBGC8" EXACT []
synonym: "JAM2-RELATED CONDITION" EXACT []
xref: MIM:618824
is_a: DOID:0060230 ! basal ganglia calcification
created_by: mtutaj
creation_date: 2020-03-30T10:31:46Z

[Term]
id: DOID:9007161
name: Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
alt_id: RDO:9001141
synonym: "progressive spondyloepimetaphyseal dysplasia, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis" EXACT []
synonym: "SEMDFA" EXACT []
xref: MIM:616723
is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: rgd
creation_date: 2016-01-15T00:00:00Z

[Term]
id: DOID:9007162
name: Chromosome 8 Ring
synonym: "chromosome 8-derived supernumerary ring/marker" EXACT []
xref: MESH:C537824
xref: MONDO:0015443
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9007163
name: Craniotelencephalic Dysplasia
alt_id: MIM:218670
synonym: "Complex of anomalies involving the cranium and brain" EXACT []
xref: MESH:C535597
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:9007164
name: Dyschondrosteosis and Nephritis
alt_id: MIM:127350
xref: MESH:C565080
is_a: DOID:10952 ! nephritis
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9007165
name: Peroxisome Biogenesis Disorder, Complementation Group E
xref: MESH:C566569
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9007166
name: Meningeal Neoplasms
def: "Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." [MESH:D008577]
synonym: "Benign Meningeal Neoplasm" NARROW []
synonym: "benign meningeal neoplasms" NARROW []
synonym: "Intracranial Meningeal Neoplasm" EXACT []
synonym: "intracranial meningeal neoplasms" EXACT []
synonym: "Leptomeningeal Neoplasm" EXACT []
synonym: "Leptomeningeal Neoplasms" EXACT []
synonym: "Malignant Meningeal Neoplasm" NARROW []
synonym: "Malignant Meningeal Neoplasms" NARROW []
synonym: "Meningeal Cancer" NARROW []
synonym: "Meningeal Cancers" NARROW []
synonym: "Meningeal Neoplasm" EXACT []
synonym: "Meningeal Tumor" EXACT []
synonym: "Meningeal Tumors" EXACT []
synonym: "spinal meningeal neoplasm" EXACT []
synonym: "spinal meningeal neoplasms" EXACT []
xref: EFO:0003851
xref: MESH:D008577
xref: NCI:C3229
is_a: DOID:9007701 ! Central Nervous System Neoplasms

[Term]
id: DOID:9007167
name: Carney Triad
alt_id: MIM:604287
synonym: "Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma" EXACT []
xref: MESH:C565803
is_a: DOID:0050773 ! paraganglioma
is_a: DOID:1967 ! leiomyosarcoma
is_a: DOID:2602 ! chondroma
is_a: DOID:9000217 ! Stomach Neoplasms
is_a: DOID:9005172 ! Lung Neoplasms

[Term]
id: DOID:9007168
name: Genetic Skin Diseases
alt_id: RDO:0001013
def: "Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism." [MESH:D012873]
synonym: "Genetic Skin Disease" EXACT []
xref: MESH:D012873
is_a: DOID:37 ! skin disease
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9007169
name: Ichthyosiform Erythroderma, Corneal Involvement, Deafness
alt_id: MIM:242150
synonym: "Desmons syndrome" EXACT []
synonym: "Ichthyosiform erythroderma, corneal involvement, and deafness" EXACT []
synonym: "Keratitis-ichthyosis-deafness syndrome, autosomal recessive" EXACT []
synonym: "Kid syndrome, autosomal recessive" EXACT []
xref: MESH:C537363
is_a: DOID:0060656 ! autosomal recessive congenital ichthyosis 1
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:9005709 ! Keratitis-Ichthyosis-Deafness Syndrome

[Term]
id: DOID:9007170
name: Bowen's Disease
def: "A persistent progressive non-elevated red scaly or crusted plaque which is due to an intradermal carcinoma and is potentially malignant. Atypical squamous cells proliferate through the whole thickness of the epidermis. The lesions may occur anywhere on the skin surface or on mucosal surfaces. The cause most frequently found is trivalent arsenic compounds. Freezing, cauterization or diathermy coagulation is often effective. (From Rook et al., Textbook of Dermatology, 4th ed, pp2428-9)" [MESH:D001913]
synonym: "Bowen Disease" EXACT []
synonym: "Bowens Disease" EXACT []
xref: MESH:D001913
is_a: DOID:1749 ! squamous cell carcinoma

[Term]
id: DOID:9007171
name: Intraoperative Complications
def: "Complications that affect patients during surgery. They may or may not be associated with the disease for which the surgery is done, or within the same surgical procedure." [MESH:D007431]
synonym: "Intraoperative Complication" EXACT []
synonym: "Peroperative Complication" EXACT []
synonym: "Peroperative Complications" EXACT []
synonym: "Surgical Injuries" EXACT []
synonym: "Surgical Injury" EXACT []
xref: MESH:D007431
xref: RDO:0005903
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9007172
name: Cardiac Valvular Dysplasia
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:4079 ! heart valve disease
created_by: mtutaj
creation_date: 2023-09-01T08:59:35Z

[Term]
id: DOID:9007173
name: Familial Natural Short Sleep 1
synonym: "FNSS1" EXACT []
xref: MIM:612975
is_a: DOID:9006913 ! Short Sleep
created_by: mtutaj
creation_date: 2019-12-19T10:09:35Z

[Term]
id: DOID:9007174
name: Ventricular Remodeling
def: "The geometric and structural changes that the HEART VENTRICLES undergo, usually following MYOCARDIAL INFARCTION. It comprises expansion of the infarct and dilatation of the healthy ventricle segments. While most prevalent in the left ventricle, it can also occur in the right ventricle." [MESH:D020257]
synonym: "Left Ventricle Remodeling" EXACT []
synonym: "Left Ventricle Remodelings" EXACT []
synonym: "Left Ventricular Remodeling" EXACT []
synonym: "Left Ventricular Remodelings" EXACT []
synonym: "Ventricle Remodeling" EXACT []
synonym: "Ventricle Remodelings" EXACT []
synonym: "Ventricular Cardiac Remodeling" EXACT []
synonym: "Ventricular Cardiac Remodelings" EXACT []
synonym: "Ventricular Myocardial Remodeling" EXACT []
synonym: "Ventricular Myocardial Remodelings" EXACT []
synonym: "Ventricular Remodelings" EXACT []
xref: MESH:D020257
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9007175
name: Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant
synonym: "ADRESD" EXACT []
synonym: "RESDAD" EXACT []
xref: MESH:C563392
xref: RDO:0012659
is_a: DOID:0060135 ! apraxia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:3329 ! benign epilepsy with centrotemporal spikes

[Term]
id: DOID:9007176
name: Rheumatic Nodule
def: "A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)" [MESH:D012215]
synonym: "Aschoff Bodies" EXACT []
synonym: "Rheumatic Nodules" EXACT []
xref: EFO:1001416
xref: MESH:D012215
xref: RDO:0006491
is_a: DOID:1586 ! rheumatic fever

[Term]
id: DOID:9007177
name: Noninsulin-Dependent Diabetes Mellitus with Deafness
alt_id: MIM:520000
synonym: "Ballinger-Wallace syndrome" EXACT []
synonym: "Diabetes mellitus, type 2, with deafness" EXACT []
synonym: "Diabetes Mellitus, Type II, With Deafness" EXACT []
synonym: "Maternally inherited diabetes and deafness" EXACT []
synonym: "Maternally Transmitted Diabetes-Deafness Syndrome" EXACT []
synonym: "MIDD" EXACT []
synonym: "mitochondrial inherited diabetes and deafness" EXACT []
synonym: "NIDDM with deafness" EXACT []
xref: MESH:C536246
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9008681 ! Deafness
is_a: DOID:9352 ! type 2 diabetes mellitus

[Term]
id: DOID:9007178
name: Reciprocating Tachycardia
def: "Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE." [MESH:D054139]
synonym: "Reciprocal Tachycardia" EXACT []
synonym: "Reciprocal Tachycardias" EXACT []
synonym: "Reciprocating Tachycardias" EXACT []
xref: EFO:1001432
xref: MESH:D054139
is_a: DOID:9002554 ! Tachycardia

[Term]
id: DOID:9007179
name: Ectodermal Dysplasia Adrenal Cyst
alt_id: MIM:129550
synonym: "Adrenal cyst with ectodermal dysplasia" EXACT []
xref: MESH:C538015
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9007583 ! Cysts
is_a: DOID:9553 ! adrenal gland disease

[Term]
id: DOID:9007180
name: HELIX syndrome
synonym: "HELIX" EXACT []
synonym: "hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia" EXACT []
xref: MIM:617671
is_a: DOID:0111866 ! trichothiodystrophy
is_a: DOID:225 ! syndrome
is_a: DOID:9004004 ! Water-Electrolyte Imbalance
is_a: DOID:9004062 ! Hyperhidrosis
is_a: DOID:9006511 ! Xerostomia
created_by: rgd
creation_date: 2017-12-04T00:00:00Z

[Term]
id: DOID:9007181
name: Osteoporotic Fractures
def: "Breaks in bones resulting from low bone mass and microarchitectural deterioration characteristic of OSTEOPOROSIS." [MESH:D058866]
synonym: "Osteoporotic Fracture" EXACT []
xref: MESH:D058866
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9007182
name: Right Ventricular Outflow Obstruction
def: "Occlusion of the outflow tract in the RIGHT VENTRICLE of the heart." []
synonym: "Dynamic Right Ventricular Outflow Tract Obstruction" EXACT []
synonym: "Dynamic RVOT Obstruction" EXACT []
synonym: "Right Ventricular Outflow Tract Obstruction" EXACT []
synonym: "RVOT Obstruction" EXACT []
xref: MESH:D000092243
is_a: DOID:9004319 ! Ventricular Outflow Obstruction
created_by: mtutaj
creation_date: 2022-12-12T14:37:44Z

[Term]
id: DOID:9007183
name: Premature Chromatid Separation Trait
synonym: "PCS" EXACT []
synonym: "TOTAL PREMATURE CHROMATID SEPARATION TRAIT" EXACT []
xref: EFO:0009077
xref: MIM:176430
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9007184
name: Meckel-Like Cerebrorenodigital Syndrome
xref: MESH:C567004
xref: RDO:0015194
is_a: DOID:0080322 ! polycystic kidney disease
is_a: DOID:1148 ! polydactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9000983 ! Encephalocele

[Term]
id: DOID:9007185
name: Shprintzen-Goldberg Craniosynostosis
alt_id: MIM:182212
synonym: "craniosynostosis and marfanoid disorder, type 1" EXACT []
synonym: "craniosynostosis with arachnodactyly and abdominal hernias" EXACT []
synonym: "marfanoid craniosynostosis syndrome" EXACT []
synonym: "marfanoid disorder with craniosynostosis, type I" EXACT []
synonym: "SGS" EXACT []
synonym: "Shprintzen-Goldberg craniosynostosis syndrome" EXACT []
synonym: "Shprintzen-Goldberg syndrome" EXACT []
xref: MESH:C537328
xref: NCI:C124840
xref: ORDO:2462
is_a: DOID:14323 ! Marfan syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9005367 ! Arachnodactyly

[Term]
id: DOID:9007186
name: Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation
synonym: "aniridia, renal agenesis, psychomotor retardation" EXACT []
xref: MIM:206750
is_a: DOID:12271 ! aniridia
is_a: DOID:14766 ! renal agenesis
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9007187
name: Congenital Myasthenic Syndrome, with Facial Dysmorphism
alt_id: RDO:0012989
synonym: "congenital myasthenic syndrome, associated with facial dysmorphism" EXACT []
xref: MESH:C563830
is_a: DOID:0060260 ! ptosis
is_a: DOID:3635 ! congenital myasthenic syndrome

[Term]
id: DOID:9007188
name: Liver Neoplasms
synonym: "hepatic neoplasm" EXACT []
synonym: "hepatic neoplasms" EXACT []
synonym: "liver neoplasm" EXACT []
synonym: "neoplasm of liver" EXACT []
synonym: "NEOPLASM OF THE LIVER" EXACT []
xref: EFO:1001513
xref: MESH:D008113
is_a: DOID:409 ! liver disease
is_a: DOID:9005424 ! Neoplasms by Site
created_by: mtutaj
creation_date: 2019-10-23T14:23:10Z

[Term]
id: DOID:9007189
name: Multifocal Choroiditis
def: "A multifocal uveitis syndrome involving the RETINAL PIGMENT EPITHELIUM and capillary layer of the CHOROID. It is characterized by chronic UVEITIS and multiple CHOROID lesions referred to as white dots, blurry vision, floaters, sensitivity to light, blind spots, and eye discomfort. (MESH)" []
xref: MESH:D000080364
is_a: DOID:11406 ! choroiditis
is_a: DOID:9003271 ! White Dot Syndromes

[Term]
id: DOID:9007190
name: Rheumatoid Vasculitis
def: "Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ULCERS, peripheral GANGRENE, and MONONEURITIS MULTIPLEX." [MESH:D056653]
synonym: "Rheumatoid Vasculitides" EXACT []
xref: MESH:D056653
is_a: DOID:7148 ! rheumatoid arthritis
is_a: DOID:9003199 ! Systemic Vasculitis

[Term]
id: DOID:9007191
name: Chromosome 9, Tetrasomy 9p
synonym: "Chromosome 9, tetrasomy 9p mosaicism" EXACT []
synonym: "Mosaic tetrasomy 9p" EXACT []
synonym: "Tetrasomy 9p" EXACT []
synonym: "Tetrasomy, short arm of chromosome 9" EXACT []
xref: GARD:42
xref: MESH:C538027
xref: MONDO:0018030
xref: ORDO:3310
is_a: DOID:9008692 ! Aneuploidy

[Term]
id: DOID:9007192
name: Noninflammatory Corneal Thinning
xref: MESH:C531720
xref: RDO:0000139
is_a: DOID:10126 ! keratoconus

[Term]
id: DOID:9007194
name: Sciatica
def: "A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of SCIATIC NEUROPATHY; RADICULOPATHY (involving the SPINAL NERVE ROOTS; L4, L5, S1, or S2, often associated with INTERVERTEBRAL DISK DISPLACEMENT); or lesions of the CAUDA EQUINA." [MESH:D012585]
synonym: "Bilateral Sciatica" EXACT []
synonym: "Bilateral Sciaticas" EXACT []
synonym: "Sciatic Neuralgia" EXACT []
synonym: "Sciatic Neuralgias" EXACT []
xref: MESH:D012585
xref: RDO:0000199
is_a: DOID:11446 ! sciatic neuropathy
is_a: DOID:9005968 ! Neuralgia

[Term]
id: DOID:9007195
name: Meacham Winn Culler Syndrome
alt_id: MIM:608978
synonym: "Meacham syndrome" EXACT []
xref: MESH:C538162
is_a: DOID:14448 ! 46,XY sex reversal
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9007196
name: Congenital Myasthenia, Refractory to Acetylcholinesterase Inhibitors
alt_id: MIM:254190
synonym: "MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS" EXACT []
xref: MESH:C564979
is_a: DOID:3635 ! congenital myasthenic syndrome

[Term]
id: DOID:9007197
name: Crisscross Heart
def: "A developmental malformation of the heart characterized by a twisted but not defective atrioventicular connection. The abnormal rotation of the ventricular mass around its long axis results in the crossing of the inflow streams of the two ventricles. Other features include hypoplasia of the TRICUSPID VALVE and RIGHT VENTRICLE." [MESH:D003420]
synonym: "Criss cross Heart" EXACT []
synonym: "Criss-cross Hearts" EXACT []
synonym: "Crisscross Hearts" EXACT []
xref: MESH:D003420
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9007198
name: Seaver Cassidy Syndrome
xref: MESH:C537529
is_a: DOID:225 ! syndrome
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9007199
name: Paraneoplastic Syndromes
def: "In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products." [MESH:D010257]
synonym: "Paraneoplastic Syndrome" EXACT []
xref: MESH:D010257
xref: RDO:0006200
is_a: DOID:14566 ! disease of cellular proliferation
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9007200
name: acute promyelocytic leukemia with PLZF/RARA
def: "This disease is an acute promyelocytic leukemia that is characterized by cervical lymphadenopathy, absence of hepatosplenomegaly, bone marrow hypercellularity with 69% APL-like promyelocytes, and the t(11;17) (q23;21) translocation generating a PLZF-RARA fusion gene." [PMID:8387545]
synonym: "Leukemia, acute promyelocytic, PLZF/RARA type" EXACT []
synonym: "ZBTB16-RELATED CONDITION" EXACT []
is_a: DOID:0060318 ! acute promyelocytic leukemia
created_by: slaulederkind
creation_date: 2024-05-23T11:14:53Z

[Term]
id: DOID:9007202
name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA
def: "This is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. Brain imaging shows abnormalities of the cerebellum." [MIM:619306]
synonym: "NEDFACH" EXACT []
xref: MIM:619306
xref: MONDO:0859141
is_a: DOID:0070338 ! cerebellar hypoplasia
is_a: DOID:9001487 ! Facies
created_by: slaulede
creation_date: 2021-06-18T10:51:30Z

[Term]
id: DOID:9007203
name: Slipped Epiphyses
def: "A complete or partial separation of the EPIPHYSES from the DIAPHYSES." [MESH:D004839]
synonym: "Epiphysiolyses" EXACT []
synonym: "Epiphysiolysis" EXACT []
xref: EFO:1001317
xref: MESH:D004839
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:9007204
name: Dysbiosis
def: "Changes in quantitative and qualitative composition of MICROBIOTA. The changes may lead to altered host microbial interaction or homeostatic imbalance that can contribute to a disease state often with inflammation." [MESH:D064806]
synonym: "Disbacterioses" EXACT []
synonym: "Disbacteriosis" EXACT []
synonym: "Disbioses" EXACT []
synonym: "Disbiosis" EXACT []
synonym: "Dysbacterioses" EXACT []
synonym: "Dysbacteriosis" EXACT []
synonym: "Dysbioses" EXACT []
synonym: "Dys-symbioses" EXACT []
synonym: "Dys symbiosis" EXACT []
xref: MESH:D064806
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9007205
name: Spinal Muscular Atrophy, Ryukyuan Type
alt_id: MIM:271200
synonym: "Ryukyuan muscular atrophy" EXACT []
xref: MESH:C536881
is_a: DOID:12377 ! spinal muscular atrophy

[Term]
id: DOID:9007206
name: Stomach Diverticulum
def: "Saccular, outward protrusion of all or a portion of the wall of the STOMACH." [MESH:D013273]
synonym: "Gastric Diverticula" EXACT []
synonym: "Gastric Diverticulum" EXACT []
synonym: "Stomach Diverticula" EXACT []
xref: EFO:1001850
xref: MESH:D013273
is_a: DOID:9001008 ! Diverticulum

[Term]
id: DOID:9007207
name: Skin/Hair/Eye Pigmentation, Variation In, 7
alt_id: MIM:611664
synonym: "SHEP7" EXACT []
synonym: "Skin-Hair-Eye Pigmentation 7, Blond-Brown Hair" EXACT []
synonym: "Skin-Hair-Eye Pigmentation 7, Dark-Light Skin" EXACT []
xref: MESH:C567155
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9001946 ! Skin Abnormalities

[Term]
id: DOID:9007209
name: Somatic Meningioma
synonym: "Meningioma, NF2-related, somatic" EXACT []
is_a: DOID:4586 ! familial meningioma

[Term]
id: DOID:9007210
name: Postaxial Polydactyly, with Dental and Vertebral Anomalies
alt_id: MIM:263540
xref: MESH:C564880
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9003071 ! Postaxial Polydactyly
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9007212
name: Anodontia of Permanent Dentition
alt_id: MIM:206780
synonym: "Absence of Permanent Teeth" EXACT []
xref: MESH:C563203
is_a: DOID:13714 ! anodontia

[Term]
id: DOID:9007213
name: Hemolytic Anemia due to Glutathione Reductase Deficiency
alt_id: MIM:618660
synonym: "GSR-RELATED CONDITION" EXACT []
synonym: "Hemolytic Anemia due to Deficiency of Glutathione Reductase, in Red Cells" EXACT []
xref: MESH:C564218
is_a: DOID:583 ! hemolytic anemia

[Term]
id: DOID:9007214
name: Cancer of the Oviduct
xref: MESH:C538511
xref: RDO:0004467
is_a: DOID:9000189 ! Fallopian Tube Neoplasms

[Term]
id: DOID:9007215
name: Familial Ventricular Tachycardia
alt_id: RDO:0008196
synonym: "familial polymorphic ventricular tachycardia" EXACT []
synonym: "polymorphic ventricular tachycardia" EXACT []
xref: MIM:192605
is_a: DOID:9005141 ! Ventricular Tachycardia

[Term]
id: DOID:9007216
name: Spastic Paraplegia with Precocious Puberty
alt_id: MIM:182820
synonym: "Familial spastic paraplegia, mental retardation, and precocious puberty" EXACT []
xref: MESH:C536874
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9007284 ! Precocious Puberty

[Term]
id: DOID:9007217
name: Corneal Dystrophy, Fuchs Endothelial, 8
synonym: "FECD8" EXACT []
xref: MIM:615523
is_a: DOID:11555 ! Fuchs' endothelial dystrophy

[Term]
id: DOID:9007218
name: Supernumerary Der(22)t(8;22) Syndrome
xref: MIM:613700
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2742 ! auditory system disease
is_a: DOID:9007973 ! Genetic Translocation

[Term]
id: DOID:9007219
name: Marfanoid Habitus with Situs Inversus
alt_id: MIM:609008
xref: MESH:C563814
is_a: DOID:14323 ! Marfan syndrome
is_a: DOID:758 ! situs inversus

[Term]
id: DOID:9007220
name: Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only
xref: MESH:C563974
is_a: DOID:13994 ! cleidocranial dysplasia
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9007221
name: Jorgenson Lenz Syndrome
synonym: "Blepharophimosis radioulnar synostosis" EXACT []
synonym: "Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis" EXACT []
synonym: "Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature-dwarfism" EXACT []
xref: MESH:C536292
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:10907 ! microcephaly
is_a: DOID:11971 ! synostosis
is_a: DOID:225 ! syndrome
is_a: DOID:9003576 ! Prognathism
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9007222
name: Bone Marrow Failure Disorders
synonym: "bone marrow failure" EXACT []
synonym: "bone marrow failure disorder" EXACT []
synonym: "bone marrow failure syndrome" EXACT []
synonym: "bone marrow failure syndromes" EXACT []
xref: MESH:D000080983
xref: MIM:PS614675
is_a: DOID:4961 ! bone marrow disease

[Term]
id: DOID:9007223
name: Isolated Thoracic Dysostosis
alt_id: MIM:187750
xref: MESH:C566063
is_a: DOID:1934 ! dysostosis

[Term]
id: DOID:9007224
name: Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly
def: "An autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development. Caused by homozygous or compound heterozygous mutation in the TMEM147 gene on chromosome 19q32." [MIM:620075]
synonym: "NEDFLPH" EXACT []
synonym: "TMEM147-RELATED CONDITION" EXACT []
xref: MIM:620075
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005466 ! Language Development Disorders
is_a: DOID:9500 ! leukocyte disease
created_by: mtutaj
creation_date: 2022-10-19T12:13:56Z

[Term]
id: DOID:9007225
name: Obsessive Hoarding
def: "Persistent difficulty discarding or parting with possessions, regardless of the value of these possessions. Epidemiological studies suggest that hoarding occurs in 2-5% of the population and can lead to substantial distress and disability, as well as serious public health consequences." []
synonym: "Hoarding" EXACT []
synonym: "Hoardings" EXACT []
synonym: "Obsessive Hoardings" EXACT []
xref: MESH:D060845
is_a: DOID:10933 ! obsessive-compulsive disorder

[Term]
id: DOID:9007226
name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8
synonym: "FTDALS8" EXACT []
xref: MIM:619132
is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis
created_by: mtutaj
creation_date: 2021-01-07T09:58:19Z

[Term]
id: DOID:9007227
name: Bruck Syndrome 1
alt_id: MIM:259450
synonym: "Arthrogryposis-like disorder" EXACT []
synonym: "BRKS1" EXACT []
synonym: "FKBP10-RELATED CONDITION" BROAD []
synonym: "Kuskokwim disease" EXACT []
xref: MESH:C537406
xref: MESH:C538124
is_a: DOID:0060231 ! Bruck syndrome

[Term]
id: DOID:9007228
name: Renal Nutcracker Syndrome
def: "Left RENAL VEIN compression between the AORTA, ABDOMINAL and the SUPERIOR MESENTERIC ARTERY. Variable symptoms include HYPERTENSION, RENOVASCULAR; HEMATURIA; and VARICOSE VEINS." [MESH:D059228]
synonym: "Renal Nutcracker Phenomenon" EXACT []
synonym: "renal nutcracker phenomenons" EXACT []
synonym: "Renal Nutcracker Syndromes" EXACT []
synonym: "renal vein entrapment syndrome" EXACT []
xref: EFO:1001838
xref: EFO:1001915
xref: MESH:D059228
is_a: DOID:225 ! syndrome
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9007229
name: Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures
def: "An autosomal recessive disorder characterized by global developmental delay apparent in early childhood. Caused by homozygous mutation in the EMC10 gene on chromosome 19q13. (OMIM)" []
synonym: "NEDDFAS" EXACT []
xref: MIM:619264
is_a: DOID:1826 ! epilepsy
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2021-04-14T14:45:08Z

[Term]
id: DOID:9007230
name: Ectodermal Dysplasia and Neurosensory Deafness
alt_id: MIM:224800
xref: MESH:C565606
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:2121 ! ectodermal dysplasia

[Term]
id: DOID:9007231
name: Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness
alt_id: MIM:609616
xref: MESH:C566507
is_a: DOID:182 ! calcinosis
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9007232
name: Schrander-Stumpel Theunissen Hulsmans Syndrome
synonym: "Vitiligo, psychomotor retardation, cleft palate and facial dysmorphism" EXACT []
synonym: "Vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism" EXACT []
xref: MESH:C536639
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12306 ! vitiligo
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007233
name: Deafness, with Smith-Magenis Syndrome
xref: RDO:9000633
is_a: DOID:0060768 ! Smith-Magenis syndrome
is_a: DOID:225 ! syndrome
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9007234
name: Carotid Artery Dissection, Internal
alt_id: RDO:0007354
def: "The splitting of the vessel wall in one or both (left and right) internal carotid arteries (CAROTID ARTERY, INTERNAL). Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation." [MESH:D020215]
xref: MESH:D020215
is_a: DOID:9006045 ! Dissecting Aneurysm
is_a: DOID:9348 ! carotid artery dissection

[Term]
id: DOID:9007235
name: Hydatidiform Mole, Recurrent, 4
def: "Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes. Recurrent hydatidiform mole-4 (HYDM4) is caused by homozygous mutation in the C11ORF80 gene on chromosome 11q13. (OMIM)" []
synonym: "HYDM4" EXACT []
xref: MIM:618432
is_a: DOID:9005147 ! Hydatidiform Mole
created_by: gthayman
creation_date: 2019-06-17T12:54:42Z

[Term]
id: DOID:9007236
name: Rhinophyma
def: "A manifestation of severe ROSACEA resulting in significant enlargement of the NOSE and occurring primarily in men. It is caused by hypertrophy of the SEBACEOUS GLANDS and surrounding CONNECTIVE TISSUE. The nose is reddened and marked with TELANGIECTASIS." [MESH:D012224]
synonym: "Rhinophymas" EXACT []
xref: MESH:D012224
is_a: DOID:8881 ! rosacea
is_a: DOID:9098 ! sebaceous gland disease

[Term]
id: DOID:9007237
name: Angel Shaped Phalangoepiphyseal Dysplasia
alt_id: MIM:105835
synonym: "Angel-shaped phalango-epiphyseal dysplasia" EXACT []
synonym: "ASPED" EXACT []
xref: MESH:C536361
is_a: DOID:0080006 ! bone development disease

[Term]
id: DOID:9007238
name: Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness
alt_id: MIM:274205
xref: MESH:C564769
is_a: DOID:0060140 ! cortical deafness
is_a: DOID:12270 ! coloboma
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9007239
name: Pulmonic Stenosis and Congenital Nephrosis
alt_id: MIM:265600
xref: MESH:C562895
is_a: DOID:2527 ! nephrosis
is_a: DOID:6420 ! pulmonary valve stenosis

[Term]
id: DOID:9007240
name: Imerslund-Grasbeck Syndrome 2
synonym: "IGS2" EXACT []
synonym: "Intestinal cobalamin malabsorption, AMN-related" NARROW []
synonym: "Intestinal cobalamin malabsorption due to AMN mutation" NARROW []
synonym: "megaloblastic anemia-1, Norwegian type" EXACT []
synonym: "megaloblastic anemia, Norwegian type" EXACT []
synonym: "MGA1 Norwegian type" EXACT []
xref: MIM:618882
is_a: DOID:9006825 ! Imerslund-Grasbeck Syndrome
created_by: mtutaj
creation_date: 2020-05-19T06:48:09Z

[Term]
id: DOID:9007241
name: Otorhinolaryngologic Diseases
def: "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases." [MESH:D010038]
subset: RGD_JBrowse_slim
synonym: "ENT Disease" EXACT []
synonym: "ENT diseases" EXACT []
synonym: "Otolaryngological Disease" EXACT []
synonym: "Otolaryngological Diseases" EXACT []
synonym: "Otolaryngologic Disease" EXACT []
synonym: "Otolaryngologic Diseases" EXACT []
synonym: "Otorhinolaryngological Disease" EXACT []
synonym: "Otorhinolaryngological Diseases" EXACT []
synonym: "otorhinolaryngologic disease" EXACT []
synonym: "throat disease" NARROW []
xref: EFO:0009479
xref: MESH:D010038
is_a: DOID:0050155 ! sensory system disease

[Term]
id: DOID:9007242
name: Spondyloepiphyseal Dysplasia Tarda, Toledo Type
alt_id: MIM:271630
synonym: "BCYM1B" EXACT []
synonym: "brachyolmia type 1, Toledo type" EXACT []
synonym: "Paps-Chondroitin Sulfate Sulfotransferase Deficiency" EXACT []
synonym: "SED, chondroitin sulfate type" EXACT []
synonym: "Spondyloepiphyseal dysplasia, chondroitin sulfate type" EXACT []
synonym: "Toledo type brachyolmia" EXACT []
xref: MESH:C535787
is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008606 ! Corneal Opacity

[Term]
id: DOID:9007243
name: Flavimonas Oryzihabitans Bacteremia
xref: MESH:C537061
xref: RDO:0002822
is_a: DOID:9005036 ! Bacteremia
is_a: DOID:9007417 ! Pseudomonas Infections

[Term]
id: DOID:9007244
name: Paramyxoviridae Infections
def: "Infections with viruses of the family PARAMYXOVIRIDAE. This includes MORBILLIVIRUS INFECTIONS; RESPIROVIRUS INFECTIONS; PNEUMOVIRUS INFECTIONS; HENIPAVIRUS INFECTIONS; AVULAVIRUS INFECTIONS; and RUBULAVIRUS INFECTIONS." [MESH:D018184]
synonym: "Parainfluenza" EXACT []
synonym: "Parainfluenza Virus Infection" EXACT []
synonym: "Parainfluenza Virus Infections" EXACT []
synonym: "Paramyxoviridae Infection" EXACT []
xref: EFO:0007419
xref: MESH:D018184
xref: RDO:0006283
is_a: DOID:9007829 ! Mononegavirales Infections

[Term]
id: DOID:9007246
name: Chromosome 17 Ring
xref: MESH:C538046
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9007247
name: Piepkorn Karp Hickok syndrome
xref: MESH:C535774
is_a: DOID:11193 ! syndactyly
is_a: DOID:182 ! calcinosis
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:674 ! cleft palate
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9002682 ! Cardiovascular Abnormalities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007248
name: Weill-Marchesani Syndrome 3
synonym: "WMS3" EXACT []
xref: MIM:614819
is_a: DOID:0050475 ! Weill-Marchesani syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9007249
name: Metaphyseal Dysplasia without Hypotrichosis
alt_id: MIM:250460
synonym: "Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia without Hypotrichosis or Immunodeficiency" EXACT []
synonym: "Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only" EXACT []
synonym: "CHHV" EXACT []
synonym: "MDWH" EXACT []
xref: MESH:C563574
is_a: DOID:0080019 ! metaphyseal dysplasia

[Term]
id: DOID:9007250
name: Complex Cortical Dysplasia with Other Brain Malformations 11
def: "An autosomal recessive disorder characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects. Caused by homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32." [MIM:620156]
synonym: "CDCBM11" EXACT []
xref: MIM:620156
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
created_by: mtutaj
creation_date: 2022-12-12T08:47:40Z

[Term]
id: DOID:9007251
name: Hyperesthesia
def: "Increased sensitivity to cutaneous stimulation due to a diminished threshold or an increased response to stimuli." [MESH:D006941]
synonym: "hyperesthesias" EXACT []
synonym: "Hyperesthetic Sensation" EXACT []
synonym: "Hyperesthetic Sensations" EXACT []
synonym: "Oxyesthesia" EXACT []
synonym: "Oxyesthesias" EXACT []
synonym: "Tactile Hyperesthesia" EXACT []
synonym: "Tactile Hyperesthesias" EXACT []
synonym: "Thermal Hyperesthesia" EXACT []
synonym: "thermal hyperesthesias" EXACT []
xref: MESH:D006941
is_a: DOID:9008625 ! Somatosensory Disorders

[Term]
id: DOID:9007252
name: Gastric Mucosa-Associated Lymphoid Tissue Lymphoma
def: "Ths is a low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." [NCI:C5266]
synonym: "gastric MALT lymphoma" EXACT []
synonym: "gastric MALToma" EXACT []
synonym: "MALT lymphoma of stomach" EXACT []
synonym: "MALToma of stomach" EXACT []
synonym: "primary gastric MALT lymphoma" EXACT []
synonym: "primary MALT lymphoma of stomach" EXACT []
xref: EFO:1000274
is_a: DOID:0050909 ! extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
created_by: slaulede
creation_date: 2023-02-23T17:01:55Z

[Term]
id: DOID:9007253
name: Hamartoma
def: "A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area." [MESH:D006222]
synonym: "Chondroid Hamartoma" NARROW []
synonym: "Colorectal Hamartoma" NARROW []
synonym: "Gastrointestinal Hamartoma" NARROW []
synonym: "Hamartomas" EXACT []
xref: EFO:1000175
xref: EFO:1000193
xref: EFO:1000280
xref: EFO:1000634
xref: MESH:D006222
is_a: DOID:14566 ! disease of cellular proliferation

[Term]
id: DOID:9007254
name: Lumbar Stenosis, Familial
xref: MESH:C563613
xref: MIM:152550
xref: MONDO:0007914
is_a: DOID:9001627 ! Pathologic Constriction

[Term]
id: DOID:9007255
name: Variegate Porphyria, Childhood-Onset
def: "A rare disorder of heme biosynthesis characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand, and, less consistently, short stature, impaired intellectual development, and seizures. Caused by homozygous or compound heterozygous mutation in the protoporphyrinogen oxidase gene (PPOX) on chromosome 1q23." [MIM:620483]
synonym: "Variegate Porphyria, homozygous variant" EXACT []
synonym: "VPCO" EXACT []
xref: MIM:620483
is_a: DOID:4346 ! variegate porphyria
created_by: mtutaj
creation_date: 2023-09-01T09:27:53Z

[Term]
id: DOID:9007256
name: Prostate Cancer, Hereditary, 12
alt_id: MIM:611868
synonym: "Hpc12" EXACT []
xref: MESH:C567510
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9007257
name: Autosomal Dominant Hypocalcemia, with Bartter Syndrome
synonym: "autosomal dominant hypocalcemia 1, with Bartter syndrome" EXACT []
synonym: "HYPOCALCEMIA, FAMILIAL HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME" NARROW []
xref: MESH:C563374
is_a: DOID:0090107 ! autosomal dominant hypocalcemia 1
is_a: DOID:445 ! Bartter disease

[Term]
id: DOID:9007259
name: Methylmalonyl-Coenzyme A Mutase Deficiency
xref: MESH:C537573
xref: RDO:0003437
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9007260
name: Prostatism
def: "Lower urinary tract symptom, such as slow urinary stream, associated with PROSTATIC HYPERPLASIA in older men." [MESH:D053448]
xref: MESH:D053448
is_a: DOID:9003962 ! Lower Urinary Tract Symptoms

[Term]
id: DOID:9007261
name: Nonsyndromic Trigonocephaly
synonym: "metopic craniosynostosis" EXACT []
xref: EFO:0008511
xref: MESH:C562951
xref: MIM:PS190440
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:9007262
name: Autosomal Recessive Nonsyndromic Deafness 124
def: "This is a disease characterized by congenital nonsyndromic progressive sensorineural hearing loss." [MIM:620794]
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 124" EXACT []
synonym: "DFNB124" EXACT []
xref: MIM:620794
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
created_by: slaulederkind
creation_date: 2024-05-10T17:36:25Z

[Term]
id: DOID:9007263
name: Cyanosis and Hepatic Disease
alt_id: MIM:219400
xref: MESH:C565660
is_a: DOID:409 ! liver disease
is_a: DOID:9000781 ! Cyanosis

[Term]
id: DOID:9007264
name: Chitty Hall Webb Syndrome
xref: MESH:C535929
is_a: DOID:225 ! syndrome
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9007265
name: Hip Fractures
def: "Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)." [MESH:D006620]
synonym: "Intertrochanteric Fractures" EXACT []
synonym: "Subtrochanteric Fractures" EXACT []
synonym: "Trochanteric Fractures" EXACT []
xref: EFO:0003964
xref: MESH:D006620
is_a: DOID:9008763 ! Femoral Fractures
is_a: DOID:9008860 ! Hip Injuries

[Term]
id: DOID:9007266
name: Satoyoshi Syndrome
alt_id: MIM:600705
synonym: "Intermittent muscle spasms with alopecia, diarrhea, and skeletal abnormalities" EXACT []
synonym: "Komuragaeri Disease" EXACT []
xref: MESH:C536616
is_a: DOID:13250 ! diarrhea
is_a: DOID:225 ! syndrome
is_a: DOID:9006743 ! Spasm
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9007267
name: Cocarcinogenesis
def: "The combination of two or more different factors in the production of cancer." [MESH:D003043]
synonym: "Cocarcinogeneses" EXACT []
xref: MESH:D003043
is_a: DOID:9007702 ! Carcinogenesis

[Term]
id: DOID:9007268
name: Wilms Tumor 6
synonym: "WT6" EXACT []
xref: MIM:616806
is_a: DOID:2154 ! nephroblastoma

[Term]
id: DOID:9007270
name: Freire-Maia Odontotrichomelic Syndrome
alt_id: MIM:273400
synonym: "Odontotrichomelic hypohidrotic dysplasia" EXACT []
synonym: "TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES" EXACT []
xref: MESH:C535637
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9007271
name: Hypoalbuminemia
def: "A condition in which albumin level in blood (SERUM ALBUMIN) is below the normal range. Hypoalbuminemia may be due to decreased hepatic albumin synthesis, increased albumin catabolism, altered albumin distribution, or albumin loss through the urine (ALBUMINURIA)." [MESH:D034141]
xref: MESH:D034141
is_a: DOID:9002513 ! Hypoproteinemia

[Term]
id: DOID:9007272
name: Infantile Liver Failure Syndrome 2
synonym: "FEVER-ASSOCIATED ACUTE INFANTILE LIVER FAILURE SYNDROME" EXACT []
synonym: "ILFS2" EXACT []
synonym: "NBAS-RELATED CONDITION" BROAD []
xref: MIM:616483
xref: NCI:C158135
is_a: DOID:0080716 ! infantile liver failure syndrome

[Term]
id: DOID:9007273
name: Pneumopericardium
def: "Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins." [MESH:D011026]
synonym: "Pneumopericardiums" EXACT []
xref: EFO:1001400
xref: MESH:D011026
is_a: DOID:114 ! heart disease

[Term]
id: DOID:9007274
name: Sweat Gland Neoplasms
def: "New abnormal growth of tissue in the SWEAT GLANDS." [MESH:D013544]
synonym: "neoplasm of sweat gland" EXACT []
synonym: "sweat gland neoplasms" EXACT []
synonym: "sweat gland tumor" EXACT []
synonym: "tumor of the sweat gland" EXACT []
xref: EFO:1001204
xref: MESH:D013544
xref: NCI:C3398
is_a: DOID:1383 ! sweat gland disease
is_a: DOID:9004464 ! Skin Neoplasms
created_by: mtutaj
creation_date: 2020-04-21T08:33:18Z

[Term]
id: DOID:9007275
name: Congenital Fascial Dystrophy
alt_id: MIM:228020
xref: MESH:C563219
is_a: DOID:65 ! connective tissue disease

[Term]
id: DOID:9007276
name: Diffuse Esophageal Spasm
alt_id: RDO:0006844
def: "A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA." [MESH:D015155]
synonym: "Diffuse Esophageal Spasms" EXACT []
synonym: "Esophageal Spasm" EXACT []
synonym: "Esophageal Spasms" EXACT []
xref: EFO:1001785
xref: MESH:D015155
is_a: DOID:9192 ! dyskinesia of esophagus

[Term]
id: DOID:9007277
name: Split-Hand and Split-Foot With Hypodontia
alt_id: MIM:183500
xref: MESH:C566665
is_a: DOID:0090020 ! split hand-foot malformation
is_a: DOID:13714 ! anodontia

[Term]
id: DOID:9007278
name: Anaphylaxis
def: "An acute hypersensitivity reaction due to exposure to a previously encountered ANTIGEN. The reaction may include rapidly progressing URTICARIA, respiratory distress, vascular collapse, systemic SHOCK, and death." [MESH:D000707]
synonym: "Anaphylactic Reaction" EXACT []
synonym: "Anaphylactic Reactions" EXACT []
synonym: "Anaphylactic Shock" EXACT []
synonym: "non-allergic anaphylaxis" NARROW []
xref: EFO:0020918
xref: MESH:D000707
is_a: DOID:9002850 ! Immediate Hypersensitivity

[Term]
id: DOID:9007279
name: Type 2 Diabetes Mellitus 1
alt_id: MIM:601283
synonym: "NIDDM1" EXACT []
synonym: "noninsulin-dependent diabetes mellitus 1" EXACT []
synonym: "T2D1" EXACT []
synonym: "TYPE 2 DIABETES MELLITUS 1, SUSCEPTIBILITY TO" RELATED []
xref: MESH:C563359
is_a: DOID:9352 ! type 2 diabetes mellitus

[Term]
id: DOID:9007280
name: Cognitive Function 1, Social
synonym: "CGF1" EXACT []
synonym: "SOCIAL COGNITION" EXACT []
xref: MIM:300082
xref: RDO:0008548
is_a: DOID:3491 ! Turner syndrome

[Term]
id: DOID:9007281
name: Primary Hypertrophic Osteoarthropathy, Autosomal Dominant
synonym: "autosomal dominant pachydermoperiostoses" EXACT []
synonym: "autosomal dominant pachydermoperiostosis" EXACT []
synonym: "PHOAD" EXACT []
synonym: "primary hypertrophic osteoarthropathy, autosomal dominant" EXACT []
xref: MIM:167100
is_a: DOID:14283 ! primary hypertrophic osteoarthropathy
created_by: mtutaj
creation_date: 2021-06-25T15:10:21Z

[Term]
id: DOID:9007282
name: Huntington's Disease-Like Syndrome
synonym: "Huntington's Disease-Like Syndromes" EXACT []
synonym: "Huntington's Disease Phenocopies" EXACT []
synonym: "Huntington's Disease Phenocopy Syndromes" EXACT []
synonym: "Huntington Disease-Like Syndrome" EXACT []
synonym: "Huntington Disease-Like Syndromes" EXACT []
xref: MESH:C580174
xref: RDO:0015896
is_a: DOID:225 ! syndrome
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:9007283
name: Familial Infantile Convulsions and Paroxysmal Choreoathetosis
alt_id: MIM:602066
synonym: "CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS" EXACT []
synonym: "ICCA" EXACT []
synonym: "ICCA syndrome" EXACT []
synonym: "PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS" EXACT []
synonym: "PKD/IC" EXACT []
xref: MESH:C535522
is_a: DOID:0060169 ! benign familial infantile epilepsy
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9007284
name: Precocious Puberty
def: "Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE." [MESH:D011629]
synonym: "PERIPHERAL PRECOCIOUS PUBERTY" NARROW []
xref: MESH:D011629
is_a: DOID:2277 ! gonadal disease

[Term]
id: DOID:9007285
name: Primary Ovarian Insufficiency 21
def: "A female infertility due to primary or secondary amenorrhea. Caused by heterozygous mutation in the TP63 gene on chromosome 3q28." [MIM:620311]
synonym: "POF21" EXACT []
synonym: "PREMATURE OVARIAN FAILURE 21" EXACT []
xref: MIM:620311
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: mtutaj
creation_date: 2023-04-07T09:55:58Z

[Term]
id: DOID:9007286
name: Chromosome 2, Trisomy 2q
synonym: "Duplication 2q" EXACT []
synonym: "Trisomy 2q" EXACT []
xref: MESH:C535367
xref: RDO:0000449
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9007287
name: Pityriasis
def: "A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)" [MESH:D010915]
synonym: "Pityriases" EXACT []
xref: MESH:D010915
is_a: DOID:9008246 ! Papulosquamous Skin Diseases

[Term]
id: DOID:9007288
name: Left Ventricular Noncompaction 1 
synonym: "LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS" EXACT []
synonym: "LVNC1" EXACT []
xref: MIM:604169
is_a: DOID:0060480 ! left ventricular noncompaction

[Term]
id: DOID:9007289
name: Hyperbilirubinemia, Shunt
alt_id: MIM:237800
xref: MESH:C562451
is_a: DOID:9005094 ! Hereditary Hyperbilirubinemia

[Term]
id: DOID:9007290
name: Traumatic Subarachnoid Hemorrhage
def: "Bleeding into the SUBARACHNOID SPACE due to CRANIOCEREBRAL TRAUMA. Minor hemorrhages may be asymptomatic; moderate to severe hemorrhages may be associated with INTRACRANIAL HYPERTENSION and VASOSPASM, INTRACRANIAL." [MESH:D020206]
synonym: "Post Traumatic Subarachnoid Hemorrhage" EXACT []
synonym: "Post-Traumatic Subarachnoid Hemorrhages" EXACT []
synonym: "Traumatic Subarachnoid Hemorrhages" EXACT []
xref: MESH:D020206
is_a: DOID:9000438 ! Subarachnoid Hemorrhage
is_a: DOID:9001829 ! Cerebrovascular Trauma
is_a: DOID:9008598 ! Traumatic Intracranial Hemorrhage

[Term]
id: DOID:9007291
name: Anencephaly 2
def: "A severe neural tube defect caused by failure of neural tube closure anteriorly. Caused by homozygous mutation in the NUAK2 gene on chromosome 1q32. (OMIM)" []
synonym: "ANPH2" EXACT []
xref: MIM:619452
is_a: DOID:0060668 ! anencephaly
created_by: mtutaj
creation_date: 2021-07-27T14:28:21Z

[Term]
id: DOID:9007292
name: Schwartz-Lelek Syndrome
synonym: "craniometadiaphyseal dysplasia" EXACT []
synonym: "craniometadiaphyseal dysplasia, wormian bone type" EXACT []
synonym: "genetic craniotubular bone dysplasias and hyperostoses" EXACT []
xref: MESH:C537519
xref: MIM:269300
xref: MONDO:0010014
xref: ORDO:85184
is_a: DOID:0080033 ! craniometaphyseal dysplasia
is_a: DOID:205 ! hyperostosis
is_a: DOID:225 ! syndrome
is_a: DOID:9003133 ! Hypertelorism

[Term]
id: DOID:9007293
name: Euglenozoa Infections
def: "Infections with the protozoa of the phylum EUGLENOZOA." [MESH:D056986]
synonym: "Euglenozoa Infection" EXACT []
xref: EFO:1001319
xref: MESH:D056986
is_a: DOID:2789 ! parasitic protozoa infectious disease

[Term]
id: DOID:9007294
name: Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus
xref: MESH:C567188
is_a: DOID:0111509 ! lymphedema-distichiasis syndrome
is_a: DOID:557 ! kidney disease
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9007295
name: Postpericardiotomy Syndrome
def: "A nonspecific hypersensitivity reaction caused by TRAUMA to the PERICARDIUM, often following PERICARDIOTOMY. It is characterized by PERICARDIAL EFFUSION; high titers of anti-heart antibodies; low-grade FEVER; LETHARGY; loss of APPETITE; or ABDOMINAL PAIN." [MESH:D011185]
synonym: "Postcommissurotomy Syndrome" EXACT []
synonym: "Postcommissurotomy Syndromes" EXACT []
synonym: "Postpericardiotomy Syndromes" EXACT []
xref: EFO:1001404
xref: MESH:D011185
is_a: DOID:114 ! heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9007296
name: Right Bundle Branch Block, Familial Isolated Complete
alt_id: MIM:113950
xref: MESH:C562759
is_a: DOID:13209 ! right bundle branch block

[Term]
id: DOID:9007297
name: Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts
alt_id: MIM:603587
xref: MESH:C566360
is_a: DOID:9005841 ! Epidermal Cyst
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9007298
name: Lymphedema of the Lower Extremities, Recurrent Pneumonia, Bronchiectasis, and Yellowed Nails
xref: MESH:C538678
is_a: DOID:0050468 ! yellow nail syndrome

[Term]
id: DOID:9007299
name: Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis
xref: MIM:PS301108
is_a: DOID:1184 ! nephrotic syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9002805 ! Enterocolitis
is_a: DOID:9004538 ! Hearing Loss
created_by: mtutaj
creation_date: 2023-07-07T12:26:07Z

[Term]
id: DOID:9007300
name: Urinary Incontinence, Urge
def: "Involuntary discharge of URINE that is associated with an abrupt and strong desire to void. It is usually related to the involuntary contractions of the detrusor muscle of the bladder (detrusor hyperreflexia or detrusor instability)." [MESH:D053202]
synonym: "Urge Incontinence" EXACT []
synonym: "Urinary Reflex Incontinence" EXACT []
xref: EFO:0006865
xref: MESH:D053202
xref: RDO:0007611
is_a: DOID:9006880 ! Urinary Incontinence

[Term]
id: DOID:9007301
name: Insect Bites and Stings
def: "Bites and stings inflicted by insects." [MESH:D007299]
synonym: "insect bite" EXACT []
synonym: "insect bites" EXACT []
synonym: "insect sting" EXACT []
synonym: "insect stings" EXACT []
xref: MESH:D007299
is_a: DOID:9002550 ! Bites and Stings

[Term]
id: DOID:9007302
name: Vitreous Hemorrhage
def: "Hemorrhage into the VITREOUS BODY." [MESH:D014823]
synonym: "Vitreous Hemorrhages" EXACT []
xref: EFO:0008626
xref: MESH:D014823
xref: RDO:0006814
is_a: DOID:9004938 ! Eye Hemorrhage
is_a: DOID:9720 ! vitreous disease

[Term]
id: DOID:9007303
name: Idiopathic Short Stature, Autosomal
alt_id: MIM:604271
synonym: "GHIP" EXACT []
synonym: "GROWTH HORMONE INSENSITIVITY, PARTIAL" EXACT []
synonym: "Growth Hormone, Insensitivity To, Partial" EXACT []
synonym: "partial isolated growth hormone deficiency" EXACT []
xref: MESH:C565805
is_a: DOID:0060870 ! isolated growth hormone deficiency

[Term]
id: DOID:9007304
name: Singleton Merten Syndrome
xref: MESH:C537343
xref: MIM:PS182250
is_a: DOID:0080000 ! muscular disease
is_a: DOID:11476 ! osteoporosis
is_a: DOID:225 ! syndrome
is_a: DOID:520 ! aortic disease
is_a: DOID:693 ! dental enamel hypoplasia
is_a: DOID:9001034 ! Odontodysplasia
is_a: DOID:9006332 ! Vascular Calcification

[Term]
id: DOID:9007305
name: Renal Hypophosphatemia with Intracerebral Calcifications
alt_id: MIM:241519
xref: MESH:C565478
is_a: DOID:182 ! calcinosis
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007740 ! Familial Hypophosphatemia

[Term]
id: DOID:9007306
name: Failed Back Surgery Syndrome
def: "A condition of persistent pain and discomfort in the BACK and the LEG following lumbar surgery, often seen in patients enrolled in pain centers." [MESH:D055111]
xref: MESH:D055111
is_a: DOID:225 ! syndrome
is_a: DOID:9000790 ! Postoperative Complications
is_a: DOID:9007923 ! Back Pain

[Term]
id: DOID:9007307
name: Blue Diaper Syndrome
alt_id: MIM:211000
synonym: "Drummond syndrome" EXACT []
synonym: "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome" EXACT []
synonym: "familial hypercalcemia with nephrocalcinosis and indicanuria" EXACT []
xref: GARD:5939
xref: MESH:C536239
xref: ORDO:94086
is_a: DOID:12678 ! hypercalcemia
is_a: DOID:225 ! syndrome
is_a: DOID:557 ! kidney disease
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9007308
name: Congenital Lobar Emphysema
alt_id: MIM:130710
xref: MESH:C535735
is_a: DOID:9675 ! pulmonary emphysema

[Term]
id: DOID:9007309
name: Craniorhiny
alt_id: MIM:123050
xref: MESH:C565144
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9007310
name: Foot Diseases
def: "Anatomical and functional disorders affecting the foot." [MESH:D005534]
synonym: "Foot Disease" EXACT []
xref: MESH:D005534
is_a: DOID:17 ! musculoskeletal system disease
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9007311
name: Platelet Factor 3 Deficiency
alt_id: MIM:173450
xref: MESH:C566798
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:9007312
name: Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria
alt_id: MIM:258470
xref: MESH:C564925
is_a: DOID:0080000 ! muscular disease
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9007313
name: Triphalangeal Thumb with Double Phalanges
alt_id: MIM:190500
xref: MESH:C566028
is_a: DOID:9001425 ! Triphalangeal Thumb

[Term]
id: DOID:9007314
name: Goldblatt Viljoen Syndrome
synonym: "Autosomal dominant radial ray hypoplasia syndrome" EXACT []
synonym: "Goldblatt Viljoen radial ray hypoplasia" EXACT []
synonym: "Radial ray hypoplasia with choanal hypoplasia" EXACT []
xref: MESH:C537280
is_a: DOID:225 ! syndrome
is_a: DOID:9574 ! choanal atresia
is_a: DOID:9840 ! esotropia

[Term]
id: DOID:9007315
name: Methicillin-Resistant Staphylococcus Aureus Infection
def: "These are infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic methicillin. The mechanism of resistance usually involves modification of penicillin binding proteins" [MESH:D055624]
synonym: "infection by MRSA" EXACT []
synonym: "Infection, MRSA" EXACT []
synonym: "methicillin-resistant staphylococcus aureus infectious disease" EXACT []
synonym: "MRSA bacteremia" EXACT []
synonym: "MRSA bacteremias" EXACT []
synonym: "MRSA infection" EXACT []
xref: EFO:0008555
is_a: DOID:9008885 ! Staphylococcal Infections
created_by: slaulede
creation_date: 2023-02-03T15:09:42Z

[Term]
id: DOID:9007316
name: Hyalohyphomycosis
def: "OPPORTUNISTIC INFECTIONS caused by a heterogeneous group of MITOSPORIC FUNGI with clear (hyalo-) HYPHAE in the host. Common causative agents include ACREMONIUM; ASPERGILLUS; CHRYSOSPORIUM; FUSARIUM; PAECILOMYCES; PENICILLIUM; PSEUDALLESCHERIA; SCEDOSPORIUM; and SCOPULARIOPSIS. Normally a dermatomycoses, it can become invasive in the IMMUNOCOMPROMISED HOST." [MESH:D060605]
synonym: "Cutaneous Hyalohyphomycoses" EXACT []
synonym: "Cutaneous Hyalohyphomycosis" EXACT []
synonym: "Disseminated Hyalohyphomycoses" EXACT []
synonym: "Disseminated Hyalohyphomycosis" EXACT []
synonym: "Hyalohyphomycoses" EXACT []
synonym: "Invasive Hyalohyphomycoses" EXACT []
synonym: "Invasive Hyalohyphomycosis" EXACT []
synonym: "Pulmonary Hyalohyphomycoses" EXACT []
synonym: "Pulmonary Hyalohyphomycosis" EXACT []
synonym: "Splenic Hyalohyphomycoses" EXACT []
synonym: "Splenic Hyalohyphomycosis" EXACT []
synonym: "Subcutaneous Hyalohyphomycoses" EXACT []
synonym: "Subcutaneous Hyalohyphomycosis" EXACT []
xref: MESH:D060605
is_a: DOID:1563 ! dermatomycosis

[Term]
id: DOID:9007317
name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES
def: "This disease is an autosomal dominant disorder characterized by mildly to severely impaired intellectual development and, in some patients, movement abnormalities consisting of tremors, cerebellar ataxia, or extrapyramidal symptoms." [MIM:619725]
synonym: "KCNN2-RELATED CONDITION" BROAD []
synonym: "NEDMAB" EXACT []
xref: MIM:619725
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008297 ! Motor Disorders
created_by: slaulede
creation_date: 2022-08-01T09:30:34Z

[Term]
id: DOID:9007318
name: Rowley-Rosenberg Syndrome
alt_id: MIM:268500
synonym: "Growth Retardation, Pulmonary Hypertension, and Amino Aciduria" EXACT []
synonym: "Growth retardation, pulmonary hypertension, and aminoaciduria" EXACT []
xref: MESH:C535874
is_a: DOID:225 ! syndrome
is_a: DOID:6432 ! pulmonary hypertension
is_a: DOID:9002207 ! Renal Aminoacidurias
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9007319
name: Joubert Syndrome 37
def: "An autosomal recessive neurodevelopmental ciliopathy characterized classically by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging. Caused by homozygous or compound heterozygous mutation in the TOGARAM1 gene on chromosome 14q21. (OMIM)" []
synonym: "JBTS37" EXACT []
xref: MIM:619185
is_a: DOID:0050777 ! Joubert syndrome
created_by: mtutaj
creation_date: 2021-02-23T08:45:29Z

[Term]
id: DOID:9007320
name: Squamous Intraepithelial Lesions
def: "A cytological test finding that shows abnormal lesions of SQUAMOUS EPITHELIAL cells." [MESH:D000081483]
synonym: "High-Grade Squamous Intraepithelial Lesions" NARROW []
synonym: "HSIL" NARROW []
synonym: "Low-Grade Squamous Intraepithelial Lesions" NARROW []
synonym: "LSIL" NARROW []
xref: MESH:D000081483
is_a: DOID:9002760 ! Morphological and Microscopic Findings
created_by: slaulede
creation_date: 2020-02-07T13:26:21Z

[Term]
id: DOID:9007321
name: knee fractures
def: "These are traumatic breaks in one or more of the bones that compose the knee joint." [NCI:C27201]
synonym: "knee fracture" EXACT []
xref: EFO:0009617
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9008290 ! Knee Injuries
created_by: slaulede
creation_date: 2023-02-02T15:00:43Z

[Term]
id: DOID:9007322
name: Polydysspondyly
xref: MESH:C565150
xref: RDO:0013875
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9007323
name: Parasitic Infection caused by Dracunculus Medinensis
xref: MESH:C548841
xref: RDO:0004678
is_a: DOID:14418 ! dracunculiasis

[Term]
id: DOID:9007324
name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY
def: "This disease is characterized by the onset of these features soon after birth or in early infancy. Affected individuals make almost no developmental progress, are unable to sit or walk, do not acquire speech, have poor visual fixation, and show poor overall growth associated with feeding problems. Brain imaging shows hypomyelination, thin corpus callosum, and cerebral and cerebellar atrophy." [MIM:619972]
synonym: "NEDMLHB" EXACT []
xref: MIM:619972
xref: NCI:C192636
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9004462 ! Atrophy
is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases
is_a: DOID:9008297 ! Motor Disorders
is_a: DOID:93 ! language disorder
created_by: slaulede
creation_date: 2022-12-15T10:38:32Z

[Term]
id: DOID:9007325
name: Cardio-Renal Syndrome
def: "Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY)." [MESH:D059347]
synonym: "Cardiorenal Syndrome" EXACT []
synonym: "Cardio-Renal Syndromes" EXACT []
synonym: "Cardiorenal Syndromes" EXACT []
synonym: "Reno Cardiac Syndrome" EXACT []
synonym: "Renocardiac Syndrome" EXACT []
synonym: "Reno-Cardiac Syndromes" EXACT []
synonym: "Renocardiac Syndromes" EXACT []
xref: MESH:D059347
is_a: DOID:1074 ! kidney failure
is_a: DOID:225 ! syndrome
is_a: DOID:6000 ! congestive heart failure

[Term]
id: DOID:9007326
name: Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant
alt_id: MIM:605463
xref: MESH:C565326
xref: RDO:0013996
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:9003882 ! Chromosomal Instability

[Term]
id: DOID:9007327
name: Cardiofacioneurodevelopmental Syndrome
synonym: "CFNDS" EXACT []
xref: MIM:619123
is_a: DOID:10907 ! microcephaly
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2020-12-10T10:18:25Z

[Term]
id: DOID:9007328
name: Multiple Pulmonary Nodules
def: "A number of small lung lesions characterized by small round masses of 2- to 3-mm in diameter. They are usually detected by chest CT scans (COMPUTED TOMOGRAPHY, X-RAY). Such nodules can be associated with metastases of malignancies inside or outside the lung, benign granulomas, or other lesions." [MESH:D055613]
synonym: "Multiple Pulmonary Nodule" EXACT []
xref: MESH:D055613
is_a: DOID:9005172 ! Lung Neoplasms

[Term]
id: DOID:9007329
name: Human Viral Hepatitis
alt_id: RDO:0005321
def: "INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission (HEPATITIS A; HEPATITIS E) or blood transfusion (HEPATITIS B; HEPATITIS C; and HEPATITIS D)." [MESH:D006525]
synonym: "viral human hepatitis infection" EXACT []
xref: EFO:0004196
xref: MESH:D006525
is_a: DOID:1884 ! viral hepatitis

[Term]
id: DOID:9007330
name: Monomelic Amyotrophy
alt_id: MIM:602440
synonym: "Hirayama disease" EXACT []
synonym: "juvenile nonprogressive spinal muscular atrophy" EXACT []
xref: EFO:1001989
xref: MESH:C538253
is_a: DOID:0060160 ! childhood spinal muscular atrophy

[Term]
id: DOID:9007331
name: Alkalosis
def: "A pathological condition that removes acid or adds base to the body fluids." [MESH:D000471]
synonym: "Alkaloses" EXACT []
xref: MESH:D000471
is_a: DOID:9006795 ! Acid-Base Imbalance

[Term]
id: DOID:9007332
name: Progressive Diaphyseal Dysplasia 1
alt_id: RDO:0004389
synonym: "DPD1" EXACT []
xref: MESH:C538411
is_a: DOID:4997 ! Camurati-Engelmann disease

[Term]
id: DOID:9007333
name: 6q+ Syndrome, Partial
synonym: "Chromosome 6, partial trisomy 6q" EXACT []
synonym: "Chromosome 6, Trisomy 6q2" EXACT []
synonym: "Distal Duplication 6q" EXACT []
synonym: "Trisomy 6q, Partial" EXACT []
synonym: "Trisomy 6q Syndrome, Partial" EXACT []
xref: MESH:C537810
xref: RDO:0003714
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9007334
name: Small-For-Size Syndrome
def: "Any circumstance where there is postoperative liver failure or dysfunction in a patient who has had liver resection or partial or small graft liver transplantation." []
is_a: DOID:225 ! syndrome
is_a: DOID:9004250 ! Hepatic Insufficiency

[Term]
id: DOID:9007335
name: Urinary Fistula
def: "An abnormal passage in any part of the URINARY TRACT between itself or with other organs." [MESH:D014548]
synonym: "Urinary Fistulas" EXACT []
xref: MESH:D014548
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9007343 ! Fistula

[Term]
id: DOID:9007336
name: Jet Lag Syndrome
def: "A chronobiologic disorder resulting from rapid travel across a number of time zones, characterized by insomnia or hypersomnolence, fatigue, behavioral symptoms, headaches, and gastrointestinal disturbances. (From Cooper, Sleep, 1994, pp593-8)" [MESH:D020179]
synonym: "Jet Lag Syndromes" EXACT []
synonym: "Time Zone Change Syndrome" EXACT []
synonym: "Time Zone Syndrome" EXACT []
synonym: "Time Zone Syndromes" EXACT []
xref: MESH:D020179
xref: RDO:0007328
is_a: DOID:0050628 ! advanced sleep phase syndrome
is_a: DOID:225 ! syndrome
is_a: DOID:9004980 ! Chronobiology Disorders

[Term]
id: DOID:9007337
name: Teratogenesis
def: "The formation of CONGENITAL ABNORMALITIES." [MESH:D064793]
xref: MESH:D064793
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9007338
name: Congenital Ectodermal Dysplasia with Hearing Loss
synonym: "Mikaelian syndrome" EXACT []
xref: MESH:C535757
xref: RDO:0001047
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9006836 ! Contracture

[Term]
id: DOID:9007339
name: Alphavirus Infections
def: "Virus diseases caused by members of the ALPHAVIRUS genus of the family TOGAVIRIDAE." [MESH:D018354]
synonym: "Alpha Virus Infection" EXACT []
synonym: "Alphavirus Infection" EXACT []
synonym: "Alpha Virus Infections" EXACT []
synonym: "Alphavirus infectious disease" EXACT []
xref: EFO:0007142
xref: MESH:D018354
xref: RDO:0001293
is_a: DOID:9002987 ! Togaviridae Infections

[Term]
id: DOID:9007340
name: Chromosome 14 Trisomy
synonym: "Trisomy 14" EXACT []
xref: MESH:C535488
xref: NCI:C116344
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9007341
name: Persistence of Pupillary Membrane
alt_id: MIM:178900
xref: MESH:C562700
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9007342
name: Neonatal Systemic Lupus Erythematosus
synonym: "Neonatal lupus" EXACT []
synonym: "Neonatal lupus syndrome" EXACT []
xref: EFO:0004537
xref: MESH:C536397
is_a: DOID:9074 ! systemic lupus erythematosus

[Term]
id: DOID:9007343
name: Fistula
def: "Abnormal communication most commonly seen between two internal organs, or between an internal organ and the surface of the body." [MESH:D005402]
synonym: "Fistulas" EXACT []
xref: MESH:D005402
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9007345
name: Goat Diseases
def: "Diseases of the domestic or wild goat of the genus Capra." [MESH:D015511]
synonym: "Caprine Disease" EXACT []
synonym: "Caprine Diseases" EXACT []
synonym: "Goat Disease" EXACT []
xref: MESH:D015511
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9007346
name: Cachexia
def: "General ill health, malnutrition, and weight loss, usually associated with chronic disease." [MESH:D002100]
xref: MESH:D002100
is_a: DOID:9000498 ! Emaciation

[Term]
id: DOID:9007347
name: Rickettsia Infections
def: "Infections by the genus RICKETTSIA." [MESH:D012282]
synonym: "Rickettsia Infection" EXACT []
xref: EFO:1001162
xref: MESH:D012282
is_a: DOID:9000458 ! Rickettsiaceae Infections

[Term]
id: DOID:9007348
name: Delayed Graft Function
def: "General dysfunction of an organ occurring immediately following its transplantation. The term most frequently refers to renal dysfunction following KIDNEY TRANSPLANTATION." [MESH:D051799]
xref: MESH:D051799
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9007349
name: Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations
xref: MESH:C563429
xref: RDO:0012688
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:14448 ! 46,XY sex reversal
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007350
name: Vascular Purpura
xref: MESH:C537256
is_a: DOID:11123 ! Henoch-Schoenlein purpura

[Term]
id: DOID:9007352
name: Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency
alt_id: RDO:0013324
synonym: "congenital muscular dystrophy, LAMA2-related" BROAD []
xref: MESH:C564317
is_a: DOID:0110636 ! congenital merosin-deficient muscular dystrophy 1A

[Term]
id: DOID:9007354
name: Fetomaternal Transfusion
def: "Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed)" [MESH:D005331]
synonym: "Fetomaternal Hemorrhage" EXACT []
synonym: "Fetomaternal Hemorrhages" EXACT []
synonym: "Fetomaternal Transfusions" EXACT []
xref: EFO:1001794
xref: MESH:D005331
is_a: DOID:11244 ! neonatal anemia

[Term]
id: DOID:9007355
name: Hashimoto Disease
alt_id: MIM:140300
def: "Chronic autoimmune thyroiditis, characterized by the presence of high serum thyroid AUTOANTIBODIES; GOITER; and HYPOTHYROIDISM." [MESH:D050031]
synonym: "chronic lymphocytic thyroiditides" EXACT []
synonym: "Chronic Lymphocytic Thyroiditis" EXACT []
synonym: "Hashimoto's disease" EXACT []
synonym: "Hashimoto's Struma" EXACT []
synonym: "Hashimoto's syndrome" EXACT []
synonym: "Hashimoto's Syndromes" EXACT []
synonym: "Hashimotos Disease" EXACT []
synonym: "Hashimotos Syndrome" EXACT []
synonym: "Hashimoto Struma" EXACT []
synonym: "Hashimoto Syndrome" EXACT []
synonym: "Hashimoto Thyroiditides" EXACT []
synonym: "Hashimoto thyroiditis" EXACT []
synonym: "HT" EXACT []
synonym: "HYPOTHYROIDISM, AUTOIMMUNE  THYROID AUTOANTIBODIES" NARROW []
xref: EFO:0003779
xref: MESH:D050031
xref: NCI:C27191
is_a: DOID:7188 ! autoimmune thyroiditis
is_a: DOID:9008207 ! Chronic Thyroiditis

[Term]
id: DOID:9007356
name: Eczema
def: "A pruritic papulovesicular dermatitis occurring as a reaction to many endogenous and exogenous agents (Dorland, 27th ed)." [MESH:D004485]
synonym: "Eczemas" EXACT []
synonym: "Eczematous Dermatitides" EXACT []
synonym: "Eczematous Dermatitis" EXACT []
xref: MESH:D004485
xref: NCI:C3001
is_a: DOID:2723 ! dermatitis
is_a: DOID:9004383 ! Eczematous Skin Diseases

[Term]
id: DOID:9007358
name: Shaken Baby Syndrome
def: "Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death." [MESH:D038642]
xref: EFO:1001423
xref: MESH:D038642
is_a: DOID:225 ! syndrome
is_a: DOID:9000998 ! Brain Injuries

[Term]
id: DOID:9007359
name: Anonychia-Ectrodactyly
alt_id: MIM:106900
xref: MESH:C566277
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9007361
name: Hereditary Angioedema 5
def: "An autosomal dominant disorder characterized by localized and self-limiting edema of the subcutaneous or submucosal tissue due to an episodic increase in vascular permeability. Caused by heterozygous mutation in the ANGPT1 gene on chromosome 8q23. (OMIM)" []
synonym: "HAE5" EXACT []
xref: MIM:619361
is_a: DOID:14735 ! hereditary angioedema
created_by: mtutaj
creation_date: 2021-06-11T12:02:10Z

[Term]
id: DOID:9007362
name: Myopia 16
alt_id: MIM:612554
synonym: "MYOPIA 16, AUTOSOMAL DOMINANT" EXACT []
synonym: "MYP16" EXACT []
xref: MESH:C567259
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9007363
name: Bronchogenic Cyst
def: "A usually spherical cyst, arising as an embryonic out-pouching of the foregut or trachea. It is generally found in the mediastinum or lung and is usually asymptomatic unless it becomes infected." [MESH:D001994]
synonym: "Bronchial Cyst" EXACT []
synonym: "Bronchial Cysts" EXACT []
synonym: "Bronchogenic Cysts" EXACT []
xref: MESH:D001994
is_a: DOID:1176 ! bronchial disease
is_a: DOID:9007583 ! Cysts
is_a: DOID:9007870 ! Respiratory System Abnormalities

[Term]
id: DOID:9007364
name: Mouth Neoplasms
def: "Tumors or cancer of the MOUTH." [MESH:D009062]
synonym: "Cancer of Mouth" EXACT []
synonym: "Cancer of the Mouth" EXACT []
synonym: "MALIGNANT TUMOR OF FLOOR OF MOUTH" NARROW []
synonym: "Mouth Cancer" EXACT []
synonym: "Mouth Cancers" EXACT []
synonym: "Mouth Neoplasm" EXACT []
synonym: "Oral Cancer" EXACT []
synonym: "Oral Cancers" EXACT []
synonym: "Oral Neoplasm" EXACT []
synonym: "Oral Neoplasms" EXACT []
xref: EFO:0003868
xref: MESH:D009062
is_a: DOID:403 ! mouth disease
is_a: DOID:9006169 ! Head and Neck Neoplasms

[Term]
id: DOID:9007365
name: Arrhinia
synonym: "congenital absence of the nose" EXACT []
synonym: "nose agenesia" EXACT []
xref: MESH:C537438
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9007366
name: Pulmonary Artery Stenosis
alt_id: RDO:0016078
def: "Narrowing of the PULMONARY ARTERIES." [MESH:D000071079]
synonym: "Pulmonary Artery Stenoses" EXACT []
xref: MESH:D000071079
is_a: DOID:9006474 ! Arterial Occlusive Diseases

[Term]
id: DOID:9007367
name: Septic Peritonitis
def: "An inflammatory condition of the peritoneum that occurs secondary to microbial contamination." []
synonym: "Acute Septic Peritonitis" NARROW []
synonym: "Chronic Septic Peritonitis" NARROW []
xref: EFO:0002623
is_a: DOID:8283 ! peritonitis

[Term]
id: DOID:9007368
name: Continuous Muscle Fiber Activity, Hereditary
xref: MESH:C563545
xref: RDO:0012773
is_a: DOID:9003935 ! Myokymia

[Term]
id: DOID:9007369
name: Microcephaly, Macrotia, and Mental Retardation
alt_id: MIM:602555
xref: MESH:C566525
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly

[Term]
id: DOID:9007370
name: Child Behavior Disorders
def: "Disturbances considered to be pathological based on age and stage appropriateness, e.g., conduct disturbances and anaclitic depression. This concept does not include psychoneuroses, psychoses, or personality disorders with fixed patterns." [MESH:D002653]
xref: MESH:D002653
xref: RDO:0000766
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:9007371
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES
def: "An autosomal recessive complex neurologic disorder characterized by global developmental delay with impaired intellectual development and language delay." [MIM:619150]
synonym: "IDDPADS" EXACT []
xref: MIM:619150
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:936 ! brain disease
created_by: slaulede
creation_date: 2021-02-15T10:18:21Z

[Term]
id: DOID:9007372
name: Eructation
def: "The ejection of gas or air through the mouth from the stomach." [MESH:D004884]
synonym: "Belching" EXACT []
synonym: "Belchings" EXACT []
synonym: "Eructations" EXACT []
xref: MESH:D004884
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:9007373
name: Left Ventricular Outflow Obstruction
def: "Occlusion of the outflow tract in the LEFT VENTRICLE of the heart." []
synonym: "Dynamic Left Ventricular Outflow Tract Obstruction" EXACT []
synonym: "Dynamic LVOT Obstruction" EXACT []
synonym: "Left Ventricular Outflow Tract Obstruction" EXACT []
synonym: "LVOT Obstruction" EXACT []
xref: MESH:D000092242
is_a: DOID:9004319 ! Ventricular Outflow Obstruction
created_by: mtutaj
creation_date: 2022-12-12T14:35:57Z

[Term]
id: DOID:9007374
name: Benign Conjunctival Neoplasm
def: "This is an abnormal growth of the cells of the conjunctiva without malignant characteristics." [NCI:C3622]
synonym: "benign conjunctiva neoplasm" EXACT []
synonym: "benign conjunctiva tumor" EXACT []
xref: EFO:1000110
is_a: DOID:9008245 ! Conjunctival Neoplasms
created_by: slaulede
creation_date: 2022-10-13T14:11:35Z

[Term]
id: DOID:9007375
name: Hypergonadotropic Hypogonadism and Partial Alopecia
alt_id: MIM:241090
xref: MESH:C567109
is_a: DOID:0090070 ! hypogonadotropic hypogonadism
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9007376
name: Phenol Sulfotransferase Deficiency
xref: MESH:C537895
xref: RDO:0003807
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9007377
name: Achromatopsia 5
xref: MESH:C567759
xref: NCI:C164226
is_a: DOID:13911 ! achromatopsia
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9007378
name: Subphrenic Abscess
def: "Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections." [MESH:D013369]
synonym: "Subdiaphragmatic Abscess" EXACT []
synonym: "Subdiaphragmatic Abscesses" EXACT []
synonym: "Subphrenic Abscesses" EXACT []
xref: EFO:1001854
xref: MESH:D013369
is_a: DOID:8283 ! peritonitis
is_a: DOID:9008115 ! Abdominal Abscess

[Term]
id: DOID:9007379
name: Idiopathic Intracranial Hypertension with Papilledema
xref: MESH:C531795
is_a: DOID:10763 ! hypertension
is_a: DOID:11459 ! pseudotumor cerebri

[Term]
id: DOID:9007380
name: Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE
synonym: "DSG1-RELATED CONDITION" BROAD []
synonym: "EPKHE" EXACT []
synonym: "SAM SYNDROME" EXACT []
synonym: "SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME" EXACT []
xref: MIM:615508
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9006215 ! Exfoliative Dermatitis
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007381
name: Pili Multigemini
synonym: "Compound hairs" EXACT []
xref: MESH:C537188
is_a: DOID:421 ! hair disease

[Term]
id: DOID:9007382
name: Zori Stalker Williams Syndrome
synonym: "Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails" EXACT []
synonym: "Pectus excavatum, macrocephaly and dysplastic nails" EXACT []
xref: MESH:C536728
xref: RDO:0002391
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9001510 ! Funnel Chest
is_a: DOID:9003816 ! Macrocephaly

[Term]
id: DOID:9007383
name: Chemical and Drug Induced Liver Injury
alt_id: RDO:0007742
def: "A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, herbal and dietary supplements and chemicals from the environment." [MESH:D056486]
synonym: "chemically-induced liver toxicities" EXACT []
synonym: "Chemically Induced Liver Toxicity" EXACT []
synonym: "Drug Induced Acute Liver Injury" EXACT []
synonym: "Drug Induced Liver Disease" EXACT []
synonym: "Drug-Induced Liver Diseases" EXACT []
synonym: "Drug-Induced Liver Injuries" EXACT []
synonym: "Drug Induced Liver Injury" EXACT []
synonym: "Drug-induced liver injury due to flucloxacillin" NARROW []
synonym: "hepatotoxicity" EXACT []
synonym: "toxic hepatitides" EXACT []
synonym: "Toxic Hepatitis" EXACT []
xref: EFO:0004228
xref: EFO:0011052
xref: MESH:D056486
xref: NCI:C84427
is_a: DOID:9000046 ! Poisoning
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions
is_a: DOID:9008691 ! Liver Injury

[Term]
id: DOID:9007384
name: Microcephaly Pontocerebellar Hypoplasia Dyskinesia
xref: MESH:C537543
is_a: DOID:10907 ! microcephaly
is_a: DOID:14784 ! olivopontocerebellar atrophy
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9007385
name: Mitochondrial Encephalopathy
synonym: "ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING" NARROW []
xref: MESH:C538525
is_a: DOID:890 ! mitochondrial encephalomyopathy

[Term]
id: DOID:9007386
name: Congenital Lower Urinary Tract Obstruction
def: "A disease characterized by anatomic blockage of bladder outflow due to urethral stenosis." [MIM:618612]
synonym: "LUTO" EXACT []
xref: MIM:618612
is_a: DOID:12577 ! urethral obstruction
is_a: DOID:2983 ! anuria
created_by: slaulede
creation_date: 2019-11-12T14:03:36Z

[Term]
id: DOID:9007387
name: Oligodontia-Colorectal Cancer Syndrome
alt_id: MIM:608615
alt_id: RDO:0013033
synonym: "AXIN2-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS" NARROW []
synonym: "AXIN2-RELATED DISORDER" BROAD []
synonym: "ODCRCS" EXACT []
synonym: "Tooth Agenesis-Colorectal Cancer Syndrome" EXACT []
xref: MESH:C563898
is_a: DOID:13714 ! anodontia
is_a: DOID:225 ! syndrome
is_a: DOID:9256 ! colorectal cancer

[Term]
id: DOID:9007388
name: Heterochromia Iridis
alt_id: MIM:142500
synonym: "asymmetry in the pigmentation of the irides" EXACT []
synonym: "pigmentary abnormality of the anterior segment of the eye" EXACT []
xref: MESH:C538115
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:240 ! iris disease

[Term]
id: DOID:9007389
name: Acute Tubulointerstitial Nephritis
xref: MESH:C564356
xref: RDO:0013351
is_a: DOID:1063 ! interstitial nephritis

[Term]
id: DOID:9007390
name: Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression
def: "Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia. There is significant phenotypic heterogeneity, even among patients with the same mutation. MECREN is caused by homozygous mutation in the SLC25A42 gene on chromosome 19p13. (OMIM)" []
synonym: "MECREN" EXACT []
xref: EFO:0010255
xref: MIM:618416
is_a: DOID:0050758 ! metabolic acidosis
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
created_by: gthayman
creation_date: 2019-06-11T14:58:22Z

[Term]
id: DOID:9007391
name: Inflammatory Bowel Disease 31
def: "This disease is characterized by the presence of ulcers throughout the colon and rectum with normal-appearing ileum. Affected infants present with recurrent bloody diarrhea with anemia and leukocytosis, with extensive lymphoplasmocytic infiltration, cryptitis, and apoptotic crypt abcesses throughout the colon and rectum. Infantile bowel disease has also been referred to as very-early-onset IBD (VEOIBD)." [MIM:619398]
synonym: "IBD31" EXACT []
synonym: "Inflammatory bowel disease (infantile ulcerative colitis) 31" EXACT []
synonym: "INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE" EXACT []
xref: MIM:619398
is_a: DOID:0050589 ! inflammatory bowel disease
created_by: mtutaj
creation_date: 2021-06-24T14:03:40Z

[Term]
id: DOID:9007392
name: Hyperzincemia with Functional Zinc Depletion
alt_id: MIM:601979
xref: MESH:C566595
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:9007393
name: Acute Cholecystitis
def: "Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." [MESH:D041881]
xref: EFO:1001289
xref: MESH:D041881
is_a: DOID:1949 ! cholecystitis

[Term]
id: DOID:9007394
name: Erythroplasia
def: "A condition of the mucous membrane characterized by erythematous papular lesions. (Dorland, 27th ed)" [MESH:D004919]
synonym: "Erythroplasias" EXACT []
xref: EFO:1001786
xref: MESH:D004919
is_a: DOID:0060071 ! pre-malignant neoplasm

[Term]
id: DOID:9007395
name: Monocarboxylate Transporter 1 Deficiency
synonym: "MCT1D" EXACT []
synonym: "MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT" NARROW []
synonym: "MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE" NARROW []
xref: MIM:616095
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9006253 ! Ketosis

[Term]
id: DOID:9007396
name: Atrioventricular Septal Defect 4
synonym: "AVSD4" EXACT []
xref: MIM:614430
is_a: DOID:0050651 ! atrioventricular septal defect

[Term]
id: DOID:9007397
name: Progressive Transformation of Germinal Centers
xref: MESH:C548085
is_a: DOID:0060058 ! lymphoma
is_a: DOID:9007608 ! Neoplastic Cell Transformation

[Term]
id: DOID:9007398
name: Phospholipidosis
def: "Conditions characterized by abnormal phospholipid deposition due to disturbance in lipid metabolism." []
synonym: "phospholipidoses" EXACT []
is_a: DOID:9455 ! lipid storage disease
created_by: rgd
creation_date: 2016-07-11T00:00:00Z

[Term]
id: DOID:9007399
name: Female Genital Neoplasms
def: "Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)." [MESH:D005833]
synonym: "Female genital neoplasm" EXACT []
synonym: "Gynecologic neoplasm" EXACT []
synonym: "Gynecologic neoplasms" EXACT []
xref: EFO:1001331
xref: MESH:D005833
is_a: DOID:229 ! female reproductive system disease
is_a: DOID:9007150 ! Urogenital Neoplasms

[Term]
id: DOID:9007400
name: Lip Neoplasms
def: "Tumors or cancer of the LIP." [MESH:D008048]
synonym: "Lip Neoplasm" EXACT []
xref: MESH:D008048
is_a: DOID:9007364 ! Mouth Neoplasms
is_a: DOID:9297 ! lip disease

[Term]
id: DOID:9007401
name: Viral Hemorrhagic Fevers
def: "A group of viral diseases of diverse etiology but having many similar clinical characteristics; increased capillary permeability, leukopenia, and thrombocytopenia are common to all. Hemorrhagic fevers are characterized by sudden onset, fever, headache, generalized myalgia, backache, conjunctivitis, and severe prostration, followed by various hemorrhagic symptoms. Hemorrhagic fever with kidney involvement is HEMORRHAGIC FEVER WITH RENAL SYNDROME." [MESH:D006482]
synonym: "mosquito-borne hemorragic fever" NARROW []
synonym: "Viral Hemorrhagic Fever" EXACT []
xref: EFO:0009575
xref: MESH:D006482
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:9007402
name: Gliosis
def: "The production of a dense fibrous network of neuroglia; includes astrocytosis, which is a proliferation of astrocytes in the area of a degenerative lesion." [MESH:D005911]
synonym: "Astrocytosis" EXACT []
synonym: "astrogliosis" EXACT []
synonym: "Glioses" EXACT []
synonym: "reactive astrogliosis" EXACT []
xref: MESH:D005911
xref: RDO:0005678
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9007403
name: Radiation Induced Brachial Plexopathy
synonym: "Radiation induced brachial neuritis" EXACT []
synonym: "Radiation injury to the brachial plexus" EXACT []
xref: MESH:C536265
is_a: DOID:3690 ! brachial plexus neuropathy
is_a: DOID:9000111 ! Radiation Injuries

[Term]
id: DOID:9007404
name: Cheilitis Glandularis
alt_id: MIM:118330
xref: MESH:C535921
is_a: DOID:10303 ! sialadenitis
is_a: DOID:1762 ! cheilitis

[Term]
id: DOID:9007405
name: Landy Donnai Syndrome
synonym: "Hydrops, ectrodactyly, syndactyly, duplication of the great toes" EXACT []
xref: MESH:C537266
xref: RDO:0003071
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9000197 ! Edema

[Term]
id: DOID:9007406
name: Distal Renal Tubular Acidosis
xref: MIM:PS179800
is_a: DOID:14219 ! renal tubular acidosis
created_by: mtutaj
creation_date: 2020-10-22T15:38:47Z

[Term]
id: DOID:9007407
name: Familial Pars Planitis
xref: MESH:C531774
is_a: DOID:12731 ! pars planitis

[Term]
id: DOID:9007408
name: Dental Focal Infection
def: "Secondary or systemic infections due to dissemination throughout the body of microorganisms whose primary focus of infection lies in the periodontal tissues." [MESH:D005491]
synonym: "Dental Focal Infections" EXACT []
xref: MESH:D005491
is_a: DOID:1091 ! tooth disease
is_a: DOID:9003338 ! Focal Infection

[Term]
id: DOID:9007409
name: Microcephaly, Epilepsy, and Diabetes Syndrome 2
def: "Characterized by severe microcephaly and neonatal/early-onset epilepsy and diabetes. Caused by homozygous mutation in the YIPF5 gene on chromosome 5q31. (OMIM)" []
synonym: "MEDS2" EXACT []
xref: MIM:619278
is_a: DOID:9002791 ! Microcephaly, Epilepsy, and Diabetes Syndrome
created_by: mtutaj
creation_date: 2021-04-19T18:24:36Z

[Term]
id: DOID:9007410
name: Temple-Baraitser syndrome
synonym: "KCNH1 ASSOCIATED DISORDER" BROAD []
synonym: "KCNH1-RELATED CONDITION" BROAD []
synonym: "Mental Retardation, Severe, And Absent Nails Of Hallux And Pollex" EXACT []
synonym: "TMBTS" EXACT []
xref: EFO:0009062
xref: GARD:9441
xref: MESH:C567516
xref: MIM:611816
xref: MONDO:0012735
xref: ORDO:420561
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9007411
name: Sleep Arousal Disorders
def: "Sleep disorders characterized by impaired arousal from the deeper stages of sleep (generally stage III or IV sleep)." [MESH:D020921]
synonym: "Confusional Arousal" EXACT []
synonym: "Confusional Arousals" EXACT []
synonym: "Sleep Arousal Disorder" EXACT []
xref: MESH:D020921
xref: RDO:0006592
is_a: DOID:9004040 ! Parasomnias

[Term]
id: DOID:9007412
name: Mitchell-Riley Syndrome
alt_id: MIM:615710
synonym: "MTCHRS" EXACT []
synonym: "neonatal diabetes with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia" EXACT []
xref: MESH:C567570
is_a: DOID:0060262 ! gallbladder disease
is_a: DOID:10486 ! intestinal atresia
is_a: DOID:225 ! syndrome
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9007413
name: Prostate Cancer, Hereditary, 10
alt_id: MIM:611100
synonym: "HPC10" EXACT []
xref: MESH:C567011
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9007414
name: Judge Misch Wright Syndrome
synonym: "Dry skin, photophobia hyperkeratosis, abnormal fingernails" EXACT []
synonym: "Keratodermia palmoplantar periorificial" EXACT []
synonym: "Palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia" EXACT []
xref: MESH:C537692
xref: RDO:0003573
is_a: DOID:225 ! syndrome
is_a: DOID:2566 ! corneal dystrophy
is_a: DOID:3134 ! facial dermatosis
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:4123 ! nail disease

[Term]
id: DOID:9007415
name: Parkinson's Disease 26
synonym: "PARK26" EXACT []
synonym: "Parkinson disease 26, autosomal dominant, susceptibility to" EXACT []
xref: MIM:620923
is_a: DOID:14330 ! Parkinson's disease
created_by: tutajm
creation_date: 2024-08-23T11:53:27Z

[Term]
id: DOID:9007416
name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES
def: "This disease is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia with poor or absent motor skills, feeding difficulties with poor overall growth, microcephaly, mild dysmorphic features, and early-onset seizures." [MIM:619876]
synonym: "NEDMHS" EXACT []
xref: MIM:619876
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9649 ! congenital nystagmus
created_by: slaulederkind
creation_date: 2024-03-26T10:24:37Z

[Term]
id: DOID:9007417
name: Pseudomonas Infections
def: "Infections with bacteria of the genus PSEUDOMONAS." [MESH:D011552]
synonym: "Pseudomonas aeruginosa CF5 infection" NARROW []
synonym: "Pseudomonas Infection" EXACT []
xref: EFO:0001076
xref: EFO:0001077
xref: MESH:D011552
xref: RDO:0002824
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9007418
name: Somnambulism
alt_id: MIM:613938
def: "A parasomnia characterized by a partial arousal that occurs during stage IV of non-REM sleep. Affected individuals exhibit semipurposeful behaviors such as ambulation and are difficult to fully awaken. Children are primarily affected, with a peak age range of 4-6 years." [MESH:D013009]
synonym: "nocturnal wandering" EXACT []
synonym: "PARASOMNIA, SLEEP TERRORS TYPE" NARROW []
synonym: "PARASOMNIA, SLEEPWALKING TYPE" EXACT []
synonym: "PSMNST" NARROW []
synonym: "PSMNSW" EXACT []
synonym: "Sleep Walking" EXACT []
synonym: "Sleepwalking" EXACT []
synonym: "Sleep Walking Disorder" EXACT []
synonym: "sleep walking disorders" EXACT []
xref: MESH:D013009
is_a: DOID:9007411 ! Sleep Arousal Disorders

[Term]
id: DOID:9007419
name: Blood-Borne Infections
def: "Diseases due to or propagated by body fluids from hosts whose BLOOD has been contaminated with pathogens. (MESH)" []
synonym: "Blood Borne Disease" EXACT []
synonym: "Blood Borne Diseases" EXACT []
synonym: "Blood-Borne Infection" EXACT []
xref: MESH:D000086982
is_a: DOID:0050117 ! disease by infectious agent
created_by: mtutaj
creation_date: 2020-12-21T20:42:31Z

[Term]
id: DOID:9007420
name: Liddle Syndrome 2
synonym: "LIDLS2" EXACT []
xref: MIM:618114
is_a: DOID:0050477 ! Liddle syndrome
created_by: slaulede
creation_date: 2018-10-11T11:45:22Z

[Term]
id: DOID:9007421
name: Visceral Heterotaxy 8, Autosomal
def: "An autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs. (OMIM)" []
synonym: "HTX8" RELATED []
synonym: "PKD1L1-RELATED CONDITION" EXACT []
xref: MIM:617205
is_a: DOID:0050545 ! visceral heterotaxy

[Term]
id: DOID:9007422
name: Decapitation
def: "Traumatic or experimentally induced separation of the head from the body in an animal or human." [MESH:D049248]
synonym: "Decapitations" EXACT []
xref: MESH:D049248
is_a: DOID:9000656 ! Penetrating Wounds

[Term]
id: DOID:9007423
name: Arhinia, Choanal Atresia, and Microphthalmia
alt_id: MIM:603457
synonym: "arhinia, choanal atresia, microphthalmia" EXACT []
synonym: "arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism" EXACT []
synonym: "BAMS" EXACT []
synonym: "Bosma arhinia microphthalmia syndrome" EXACT []
synonym: "SMCHD1-RELATED CONDITION" BROAD []
xref: MESH:C537429
is_a: DOID:10629 ! microphthalmia
is_a: DOID:9574 ! choanal atresia

[Term]
id: DOID:9007424
name: Mitochondrial Myopathy, and Ataxia
synonym: "mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome" EXACT []
synonym: "MMYAT" EXACT []
synonym: "MSTO1-RELATED DISORDER" EXACT []
xref: MIM:617675
xref: MONDO:0044714
xref: ORDO:502423
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:699 ! mitochondrial myopathy
created_by: rgd
creation_date: 2017-12-06T00:00:00Z

[Term]
id: DOID:9007425
name: Diffuse Panbronchiolitis
alt_id: MIM:604809
synonym: "DPB" EXACT []
synonym: "PBLT" EXACT []
xref: MESH:C536174
xref: NCI:C202116
xref: RDO:0001646
is_a: DOID:2942 ! bronchiolitis
is_a: DOID:9000109 ! Haemophilus Infections

[Term]
id: DOID:9007426
name: Chromosome 17, Trisomy 17q22
synonym: "Duplication 17q" EXACT []
synonym: "Trisomy 17q22" EXACT []
xref: MESH:C536579
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9007427
name: ZIEGLER-HUANG SYNDROME
def: "This disease is a bone marrow failure syndrome characterized by severe growth retardation responsive to growth hormone treatment, testicular hypoplasia, and progressive bone marrow failure, with thrombocytopenia and macrocytosis developing in childhood." [MIM:620501]
synonym: "BMFS8" EXACT []
synonym: "BONE MARROW FAILURE SYNDROME 8" EXACT []
synonym: "ZHS" EXACT []
xref: MIM:620501
is_a: DOID:2519 ! testicular disease
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007222 ! Bone Marrow Failure Disorders
created_by: slaulederkind
creation_date: 2023-11-10T11:20:39Z

[Term]
id: DOID:9007428
name: Muscle Spasticity
def: "A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a 'free interval') followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)" [MESH:D009128]
synonym: "Clasp Knife Spasticity" EXACT []
synonym: "Spastic" EXACT []
synonym: "SPASTICITY" EXACT []
xref: MESH:D009128
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9008941 ! Muscle Hypertonia

[Term]
id: DOID:9007429
name: Soft Tissue Neoplasms
def: "Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc." [MESH:D012983]
synonym: "Soft Tissue Neoplasm" EXACT []
xref: EFO:1000541
xref: MESH:D012983
is_a: DOID:9008612 ! Connective and Soft Tissue Neoplasms

[Term]
id: DOID:9007431
name: Intimal Sarcoma
def: "This is a malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor" [NCI:C53677]
xref: EFO:1000305
is_a: DOID:4235 ! spindle cell sarcoma
is_a: DOID:9007429 ! Soft Tissue Neoplasms
created_by: slaulede
creation_date: 2023-01-06T12:04:40Z

[Term]
id: DOID:9007432
name: Latent Tuberculosis
def: "The dormant form of TUBERCULOSIS where the person shows no obvious symptoms and no sign of the causative agent (Mycobacterium tuberculosis) in the SPUTUM despite being positive for tuberculosis infection skin test." [MESH:D055985]
synonym: "Latent Tuberculoses" EXACT []
synonym: "Latent Tuberculosis Infection" EXACT []
synonym: "Latent Tuberculosis Infections" EXACT []
xref: MESH:D055985
is_a: DOID:399 ! tuberculosis

[Term]
id: DOID:9007433
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES
synonym: "IDDSSA" EXACT []
xref: MIM:618453
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
created_by: slaulede
creation_date: 2019-09-13T12:50:36Z

[Term]
id: DOID:9007434
name: small artery occlusion
def: "This is blockage of blood flow through a small artery, particularly in the brain." [EFO:1001495]
xref: EFO:1001495
is_a: DOID:0112313 ! brain small vessel disease
is_a: DOID:9006474 ! Arterial Occlusive Diseases
created_by: slaulede
creation_date: 2022-10-18T13:11:22Z

[Term]
id: DOID:9007436
name: Hypertrophic Cicatrix
def: "An elevated scar, resembling a KELOID, but which does not spread into surrounding tissues. It is formed by enlargement and overgrowth of cicatricial tissue and regresses spontaneously." [MESH:D017439]
synonym: "Hypertrophic Cicatrices" EXACT []
synonym: "Hypertrophic Scar" EXACT []
synonym: "Hypertrophic Scars" EXACT []
xref: MESH:D017439
is_a: DOID:9004739 ! Cicatrix

[Term]
id: DOID:9007438
name: Kasabach-Merritt Syndrome
alt_id: MIM:141000
def: "Rapidly growing vascular lesion along the midline axis of the neck, upper trunk, and extremities that is characterized by CONSUMPTION COAGULOPATHY; THROMBOCYTOPENIA; and HEMOLYTIC ANEMIA. It is often associated with infantile Kaposiform HEMANGIOENDOTHELIOMA and other vascular tumors such as tufted ANGIOMA." [MESH:D059885]
synonym: "Hemangioma Thrombocytopenia Syndrome" EXACT []
synonym: "Hemangioma Thrombocytopenia Syndromes" EXACT []
synonym: "Kasabach Merritt Phenomenon" EXACT []
xref: MESH:D059885
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:225 ! syndrome
is_a: DOID:255 ! hemangioma

[Term]
id: DOID:9007439
name: Parasystole
def: "A cardiac arrhythmia that is caused by interaction of two independently initiated cardiac impulses of different rates from two separate foci. Generally one focus is the SINOATRIAL NODE, the normal pacemaker. The ectopic focus is usually in the HEART VENTRICLE but can be in the HEART ATRIUM or the ATRIOVENTRICULAR NODE. Modulation of the parasystolic rhythm by the sinus rhythm depends on the completeness of entrance block surrounding the parasystolic focus." [MESH:D017574]
synonym: "Parasystoles" EXACT []
xref: MESH:D017574
xref: RDO:0007058
is_a: DOID:9000064 ! Cardiac Arrhythmias

[Term]
id: DOID:9007440
name: Coronary Artery Disease, Autosomal Dominant 1
alt_id: MIM:608320
synonym: "ADCAD1" EXACT []
synonym: "CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION" EXACT []
synonym: "Coronary Artery Disease With Myocardial Infarction" EXACT []
xref: MESH:C564258
is_a: DOID:3393 ! coronary artery disease
is_a: DOID:5844 ! myocardial infarction

[Term]
id: DOID:9007441
name: Abnormal Thyroid Hormone Metabolism 3
def: "A disease characterized by euthyroid hyperthyroxinemia, with elevated free T4 and reverse T3 levels, and normal TSH and free T3 levels. Caused by homozygous mutation in the TRU-TCA1-1 gene on chromosome 19q13." [MIM:620198]
synonym: "THMA3" EXACT []
xref: MIM:620198
is_a: DOID:50 ! thyroid gland disease
created_by: mtutaj
creation_date: 2023-01-11T10:40:15Z

[Term]
id: DOID:9007442
name: Central Centrifugal Cicatricial Alopecia
def: "Central centrifugal cicatricial alopecia (CCCA) is the most common type of primary scarring alopecia affecting women of African ancestry, with an estimated prevalence of 2.7 to 5.6%. It may be triggered by hair-grooming habits; however, familial occurrence has been reported. Mean age at presentation is 36 years. The first sign is often unexplained hair breakage, followed by hair thinning, primarily involving the vertex scalp and progressing centrifugally. Histopathologic examination shows varying degrees of lymphocytic inflammation, follicular degeneration, and fibrosis. (OMIM)" []
synonym: "CCCA" EXACT []
synonym: "cicatricial alopecia" BROAD []
xref: EFO:1002028
xref: MIM:618352
is_a: DOID:987 ! alopecia
created_by: mtutaj
creation_date: 2019-03-12T10:48:32Z

[Term]
id: DOID:9007443
name: HAIR-AN syndrome
synonym: "Hyperandrogenic, insulin-resistant acanthosis nigricans syndrome" EXACT []
synonym: "Hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN)" EXACT []
xref: MESH:C537629
is_a: DOID:11613 ! hyperandrogenism
is_a: DOID:225 ! syndrome
is_a: DOID:3138 ! acanthosis nigricans
is_a: DOID:9007692 ! Insulin Resistance

[Term]
id: DOID:9007444
name: Siegler Brewer Carey Syndrome
xref: MESH:C537335
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:225 ! syndrome
is_a: DOID:557 ! kidney disease
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9000343 ! Vision Disorders
is_a: DOID:9003483 ! Conductive Hearing Loss
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007445
name: Autoimmune Lymphoproliferative Syndrome, Type V
def: "An autosomal dominant complex immune disorder characterized by autoimmune thrombocytopenias and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. (OMIM)" []
synonym: "ALPS5" EXACT []
synonym: "CHAI" EXACT []
synonym: "CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION" EXACT []
synonym: "IDAIL" EXACT []
synonym: "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation" EXACT []
xref: MIM:616100
is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome

[Term]
id: DOID:9007446
name: Wernicke Aphasia
def: "Impairment in the comprehension of speech and meaning of words, both spoken and written, and of the meanings conveyed by their grammatical relationships in sentences. It is caused by lesions that primarily affect Wernicke's area, which lies in the posterior perisylvian region of the temporal lobe of the dominant hemisphere. (From Brain & Bannister, Clinical Neurology, 7th ed, p141; Kandel et al., Principles of Neural Science, 3d ed, p846)" [MESH:D001041]
synonym: "fluent aphasia" EXACT []
synonym: "Fluent Aphasia, Wernicke" EXACT []
synonym: "Fluent Aphasia, Wernickes" EXACT []
synonym: "Fluent Dysphasia" EXACT []
synonym: "Fluent Dysphasias" EXACT []
synonym: "Jargon Aphasia" EXACT []
synonym: "Jargon Aphasias" EXACT []
synonym: "Posterior Aphasia" EXACT []
synonym: "Posterior Aphasias" EXACT []
synonym: "Psychosensory Aphasia" EXACT []
synonym: "Psychosensory Aphasias" EXACT []
synonym: "Receptive Aphasia" EXACT []
synonym: "Receptive Dysphasia" EXACT []
synonym: "Receptive Dysphasias" EXACT []
synonym: "Sensory Aphasia" EXACT []
synonym: "Sensory Dysphasia" EXACT []
synonym: "Sensory Dysphasias" EXACT []
synonym: "Wernicke's dysphasia" EXACT []
synonym: "Wernicke's fluent aphasia" EXACT []
synonym: "Wernicke Aphasias" EXACT []
synonym: "Wernicke Dysphasia" EXACT []
synonym: "Wernickes dysphasia" EXACT []
xref: MESH:D001041
is_a: DOID:0060046 ! aphasia

[Term]
id: DOID:9007447
name: Developmental Delay, Epilepsy, and Neonatal Diabetes
alt_id: RDO:0013947
synonym: "DEND SYNDROME" EXACT []
xref: MESH:C565253
is_a: DOID:11717 ! neonatal diabetes
is_a: DOID:1826 ! epilepsy
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9007448
name: Autosomal Sideroblastic Anemia
alt_id: RDO:0003155
synonym: "AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA" EXACT []
synonym: "Sideroblastic anemia, autosomal recessive inheritance" EXACT []
xref: MESH:C537334
is_a: DOID:8955 ! sideroblastic anemia

[Term]
id: DOID:9007451
name: Mental Retardation Mietens Weber Type
alt_id: MIM:249600
synonym: "Mental retardation syndrome, Mietens Weber type" EXACT []
synonym: "Mietens-Weber syndrome" EXACT []
xref: MESH:C537444
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9006836 ! Contracture
is_a: DOID:9008606 ! Corneal Opacity
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:9007452
name: Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis
alt_id: MIM:611926
synonym: "IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS" EXACT []
xref: MESH:C567457
is_a: DOID:14447 ! gonadal dysgenesis
is_a: DOID:3770 ! pulmonary fibrosis
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9007453
name: Silver-Russell Syndrome 5
def: "Silver-Russell syndrome caused by heterozygous mutation in the HMGA2 gene on chromosome 12q14." [MIM:618908 "RGD"]
synonym: "Silver-Russell 5" EXACT []
synonym: "SRS5" EXACT []
xref: MIM:618908
is_a: DOID:14681 ! Silver-Russell syndrome
created_by: mtutaj
creation_date: 2020-06-15T13:59:31Z

[Term]
id: DOID:9007454
name: amyloidoma
def: "This is a nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients." [NCI:C41137]
synonym: "Nodular Amyloidosis" EXACT []
xref: EFO:1001874
is_a: DOID:9120 ! amyloidosis
created_by: slaulede
creation_date: 2023-02-23T15:59:35Z

[Term]
id: DOID:9007455
name: Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies
def: "A syndromic neurodevelopmental disorder characterized by severe global developmental delay, impaired intellectual development with poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital anomalies." [MIM:618494]
synonym: "ATN1-RELATED DISORDERS" BROAD []
synonym: "CHEDDA" EXACT []
synonym: "congenital ATN1-related disorder" BROAD []
xref: MIM:618494
is_a: DOID:1826 ! epilepsy
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2019-08-13T15:35:26Z

[Term]
id: DOID:9007456
name: Female Infertility
def: "Diminished or absent ability of a female to achieve conception." [MESH:D007247]
synonym: "Female Sterility" EXACT []
synonym: "Female Subfertility" EXACT []
synonym: "female sub-fertility" EXACT []
synonym: "postpartum sterility" EXACT []
xref: EFO:0008560
xref: MESH:D007247
xref: MIM:PS615774
is_a: DOID:5223 ! infertility

[Term]
id: DOID:9007457
name: Dyskinesias, Seizures, and Intellectual Developmental Disorder
synonym: "DEAF1-RELATED CONDITION" BROAD []
synonym: "DEAF1-RELATED DISORDER" BROAD []
synonym: "DYSEIDD" EXACT []
synonym: "Dyskinesia, seizures, and intellectual developmental disorder" EXACT []
synonym: "NEDHELS" EXACT []
synonym: "Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" EXACT []
xref: MIM:617171
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:1826 ! epilepsy
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9007458
name: Familial Obstructive Jaundice of Infancy
alt_id: MIM:308600
xref: MESH:C564118
is_a: DOID:13603 ! obstructive jaundice

[Term]
id: DOID:9007460
name: Vertebral Body Fusion Overgrowth
synonym: "Progressive anterior vertebral body fusion, overgrowth and distinct craniofacial appearance" EXACT []
xref: MESH:C536543
xref: RDO:0002158
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9007461
name: Chronic Lung Allograft Dysfunction
def: "Chronic and progressive loss of function in a transplanted lung. It involves a persistent decline in FEV1 (Forced expiratory volume in 1 second) of more than 20%, independent of the type of pulmonary function defect." []
synonym: "CLAD" EXACT []
xref: EFO:0008497
is_a: DOID:9002153 ! Chronic Allograft Dysfunction
is_a: DOID:9006827 ! Lung Reperfusion Injury

[Term]
id: DOID:9007462
name: Partial Agenesis of Corpus Callosum
synonym: "PARTIAL AGENESIS OF THE CORPUS CALLOSUM" EXACT []
xref: MESH:C536111
xref: RDO:0001550
is_a: DOID:9001999 ! Agenesis of Corpus Callosum

[Term]
id: DOID:9007463
name: Silver-Russell Syndrome 2
def: "Pre- and postnatal growth retardation, with relative sparing of cranial growth, triangular facies, and downturned corners of the mouth. An imprinting disorder involving genes within the imprinted region of chromosome 7." [MIM:618905 "RGD"]
synonym: "maternal uniparental disomy, chromosome 7" EXACT []
synonym: "SRS2" EXACT []
xref: MIM:618905
is_a: DOID:14681 ! Silver-Russell syndrome
is_a: DOID:9006108 ! Uniparental Disomy
created_by: mtutaj
creation_date: 2020-06-15T13:47:38Z

[Term]
id: DOID:9007464
name: Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation
synonym: "autosomal recessive proximal renal tubular acidosis with ocular abnormalities and impaired intellectual development" EXACT []
synonym: "proximal renal tubular acidosis-ocular anomaly syndrome" EXACT []
synonym: "proximal renal tubular acidosis with ocular abnormalities and impaired intellectual development" EXACT []
synonym: "proximal RTA, autosomal recessive" EXACT []
synonym: "PRTAO" EXACT []
xref: MESH:C567038
xref: MIM:604278
xref: MONDO:0011422
is_a: DOID:1059 ! intellectual disability
is_a: DOID:14219 ! renal tubular acidosis
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:9007465
name: 6-Phosphogluconolactonase Deficiency
alt_id: MIM:172150
synonym: "6PGL Deficiency" EXACT []
synonym: "PGLS Deficiency" EXACT []
xref: MESH:C566803
is_a: DOID:583 ! hemolytic anemia
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9007468
name: Neuhauser Daly Magnelli Syndrome
alt_id: MIM:190310
synonym: "Essential tremors, nystagmus and duodenal ulceration" EXACT []
synonym: "Tremor, Nystagmus, and Duodenal Ulcer" EXACT []
synonym: "Tremor nystagmus duodenal ulcer" EXACT []
synonym: "Tremors, nystagmus and duodenal ulcers" EXACT []
xref: MESH:C536406
is_a: DOID:1724 ! duodenal ulcer
is_a: DOID:225 ! syndrome
is_a: DOID:9650 ! pathologic nystagmus

[Term]
id: DOID:9007469
name: 2-Hydroxyethyl Methacrylate Sensitization
synonym: "Sensitization to 2-hydroxyethyl methacrylate" EXACT []
xref: MESH:C535305
xref: RDO:0000343
is_a: DOID:3042 ! allergic contact dermatitis

[Term]
id: DOID:9007470
name: Patent Ductus Arteriosus 3
synonym: "PDA3" EXACT []
xref: MIM:617039
xref: RDO:9001512
is_a: DOID:13832 ! patent ductus arteriosus
created_by: rgd
creation_date: 2017-03-29T00:00:00Z

[Term]
id: DOID:9007471
name: vascular toxicity
def: "This is toxicity that impairs the vascular system or damages its function. It is a frequent adverse effect of current anticancer chemotherapies and often results from endothelial dysfunction. Vascular endothelial growth factor inhibitors (VEGFi), anthracyclines, plant alkaloids, alkylating agents, antimetabolites, and radiation therapy evoke vascular toxicity." [PMID:34386529]
xref: EFO:0011062
is_a: DOID:9000352 ! Vascular System Injuries
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions
created_by: slaulede
creation_date: 2023-02-27T16:02:46Z

[Term]
id: DOID:9007472
name: Skin Manifestations
def: "Dermatologic disorders attendant upon non-dermatologic disease or injury." [MESH:D012877]
synonym: "Skin Manifestation" EXACT []
xref: MESH:D012877
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9007473
name: Familial Hemorrhagic Diathesis due to Antithrombin
alt_id: MIM:207300
xref: MESH:C565947
is_a: DOID:2213 ! hemorrhagic disease

[Term]
id: DOID:9007474
name: Creutzfeldt-Jakob Disease, Heidenhain Variant
xref: MESH:C566981
is_a: DOID:11949 ! Creutzfeldt-Jakob disease
is_a: DOID:9000343 ! Vision Disorders

[Term]
id: DOID:9007475
name: Pulmonary Surfactant Metabolism Dysfunction 5
synonym: "CSF2RB DEFICIENCY" EXACT []
synonym: "CSF2RB-RELATED CONDITION" EXACT []
synonym: "PAP DUE TO CSF2RB DEFICIENCY" EXACT []
synonym: "pulmonary alveolar proteinosis 5" EXACT []
synonym: "SMDP5" EXACT []
xref: MIM:614370
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:9006807 ! Congenital Pulmonary Alveolar Proteinosis

[Term]
id: DOID:9007476
name: Jones Hersh Yusk Syndrome
synonym: "Aplasia cutis cleft palate epidermolysis" EXACT []
synonym: "Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly" EXACT []
synonym: "Ptosis, ectropion, thin skin, beaked nose" EXACT []
xref: MESH:C535885
xref: RDO:0001241
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9007477
name: Kininogen Deficiency, High Molecular Weight and Low Molecular Weight
xref: MESH:C567116
is_a: DOID:620 ! blood protein disease

[Term]
id: DOID:9007478
name: Malocclusion, Angle Class III
alt_id: MIM:176700
def: "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion)." [MESH:D008313]
synonym: "Angle Class III" EXACT []
synonym: "Habsburg Jaw" EXACT []
synonym: "Hapsburg Jaw" EXACT []
synonym: "mandibular prognathism" EXACT []
synonym: "Underbite" EXACT []
xref: MESH:D008313
is_a: DOID:9000121 ! Malocclusion

[Term]
id: DOID:9007479
name: Habitual Abortions
alt_id: MIM:614389
alt_id: MIM:614390
alt_id: MIM:614391
def: "Three or more consecutive spontaneous abortions." [MESH:D000026]
synonym: "Habitual Abortion" EXACT []
synonym: "PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1" RELATED []
synonym: "PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2" RELATED []
synonym: "PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3" RELATED []
synonym: "Recurrent Abortion" EXACT []
synonym: "recurrent abortions" EXACT []
synonym: "recurrent embryonic loss" EXACT []
synonym: "recurrent fetal loss, susceptibility to" RELATED []
synonym: "Recurrent Miscarriage" EXACT []
synonym: "Recurrent Miscarriages" EXACT []
synonym: "recurrent spontaneous abortion" EXACT []
synonym: "recurrent spontaneous abortions" EXACT []
synonym: "recurrent stillbirth" EXACT []
synonym: "RPL" EXACT []
synonym: "RPRGL" EXACT []
synonym: "RPRGL1" RELATED []
synonym: "RPRGL2" RELATED []
synonym: "RPRGL3" RELATED []
xref: EFO:1000954
xref: MESH:D000026
is_a: DOID:9003281 ! Spontaneous Abortions

[Term]
id: DOID:9007480
name: Hyperoxia
def: "An abnormal increase in the amount of oxygen in the tissues and organs." [MESH:D018496]
synonym: "Hyperoxias" EXACT []
xref: MESH:D018496
is_a: DOID:9000575 ! Respiratory Signs and Symptoms

[Term]
id: DOID:9007481
name: Otitis
def: "Inflammation of the ear, which may be marked by pain (EARACHE), fever, HEARING DISORDERS, and VERTIGO. Inflammation of the external ear is OTITIS EXTERNA; of the middle ear, OTITIS MEDIA; of the inner ear, LABYRINTHITIS." [MESH:D010031]
synonym: "Ear Inflammation" EXACT []
synonym: "Ear Inflammations" EXACT []
synonym: "Otitides" EXACT []
xref: MESH:D010031
xref: RDO:0005953
is_a: DOID:2742 ! auditory system disease
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:9007482
name: Bone Metastasis
def: "Transfer of a neoplasm from its primary site to distant bone." []
synonym: "bone metastases" EXACT []
synonym: "MBD" EXACT []
synonym: "metastatic bone disease" EXACT []
xref: EFO:0009870
is_a: DOID:9000965 ! Neoplasm Metastasis
is_a: DOID:9004389 ! Bone Neoplasms

[Term]
id: DOID:9007483
name: Epidermolysis Bullosa Simplex Superficialis
alt_id: MIM:607600
xref: MESH:C564368
is_a: DOID:4644 ! epidermolysis bullosa simplex

[Term]
id: DOID:9007484
name: Xeroderma Pigmentosum, Type 9
def: "Note: type 9 was described but it has now been withdrawn as it appears to be the same as another xeroderma pigementosum type. (http://www.rightdiagnosis.com/x/xeroderma_pigmentosum_type_9/intro.htm)" []
synonym: "Xeroderma pigmentosum, complementation group 1" EXACT []
synonym: "Xeroderma Pigmentosum, Complementation Group I" EXACT []
synonym: "Xeroderma Pigmentosum Group I" EXACT []
synonym: "Xeroderma Pigmentosum IX" EXACT []
synonym: "XP9" EXACT []
synonym: "XP, Group I" EXACT []
xref: MESH:C536765
xref: MESH:C564731
is_a: DOID:0050427 ! xeroderma pigmentosum

[Term]
id: DOID:9007485
name: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation
synonym: "IMD124" EXACT []
synonym: "Immunodeficiency 124" EXACT []
synonym: "Immunodeficiency 124, severe combined" EXACT []
synonym: "NHEJ1 Syndrome" EXACT []
synonym: "SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY" NARROW []
synonym: "SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation" EXACT []
synonym: "SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY" NARROW []
synonym: "Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation Due To Nhej1 Deficiency" EXACT []
xref: MESH:C566970
xref: MIM:611291
is_a: DOID:10907 ! microcephaly
is_a: DOID:627 ! severe combined immunodeficiency
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9007486
name: Scleromyxedema
def: "A connective tissue disorder characterized by widespread thickening of SKIN with a cobblestone-like appearance. It is caused by proliferation of FIBROBLASTS and deposition of MUCIN in the DERMIS in the absence of thyroid disease. Most scleromyxedema cases are associated with a MONOCLONAL GAMMOPATHY, immunoglobulin IgG-lambda." [MESH:D053718]
synonym: "Lichen Myxedematosus" EXACT []
synonym: "Papular Mucinosis" EXACT []
xref: MESH:D053718
xref: NCI:C85061
is_a: DOID:3141 ! mucinoses

[Term]
id: DOID:9007487
name: Idiopathic Basal Ganglia Calcification 7
synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE" EXACT []
synonym: "IBGC7" EXACT []
synonym: "MYORG-RELATED CONDITION" EXACT []
xref: MIM:618317
is_a: DOID:0060230 ! basal ganglia calcification
is_a: DOID:1289 ! neurodegenerative disease
created_by: mtutaj
creation_date: 2019-02-13T00:00:00Z

[Term]
id: DOID:9007488
name: Idiopathic Juxtafoveal Retinal Telangiectasia
xref: MESH:C548027
xref: RDO:0004638
is_a: DOID:7736 ! retinal telangiectasia

[Term]
id: DOID:9007490
name: Edema Disease of Swine
def: "An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema." [MESH:D004488]
synonym: "Swine Edema Disease" EXACT []
synonym: "Swine Edema Diseases" EXACT []
xref: MESH:D004488
is_a: DOID:9008435 ! Swine Diseases

[Term]
id: DOID:9007491
name: Childhood Schizophrenia
alt_id: RDO:0006539
def: "An obsolete concept, historically used for childhood mental disorders thought to be a form of schizophrenia. It was in earlier versions of DSM but is now included within the broad concept of PERVASIVE DEVELOPMENT DISORDERS." [MESH:D012561]
synonym: "Childhood Onset Schizophrenia" EXACT []
xref: MESH:D012561
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:9007492
name: Akaba Hayasaka Syndrome
xref: MESH:C535609
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9007493
name: Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
synonym: "PCK1 DEFICIENCY, CYTOSOLIC" EXACT []
synonym: "PCKDC" EXACT []
synonym: "PEPCK DEFICIENCY, CYTOSOLIC" EXACT []
synonym: "Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic" EXACT []
xref: MIM:261680
is_a: DOID:9003263 ! Phosphoenolpyruvate Carboxykinase Deficiency
created_by: mtutaj
creation_date: 2023-04-14T08:53:57Z

[Term]
id: DOID:9007494
name: Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules
xref: MESH:C535905
xref: RDO:0001270
is_a: DOID:11984 ! hypertrophic cardiomyopathy
is_a: DOID:811 ! lipodystrophy
is_a: DOID:9351 ! diabetes mellitus
is_a: DOID:9452 ! steatotic liver disease

[Term]
id: DOID:9007495
name: Macules Hereditary Congenital Hypopigmented and Hyperpigmented
synonym: "Congenital hypomelanotic and hypermelanotic macules" EXACT []
synonym: "Westerhof Beemer Cormane syndrome" EXACT []
xref: MESH:C537836
xref: RDO:0003742
is_a: DOID:10123 ! pigmentation disease

[Term]
id: DOID:9007496
name: Thyroid Benign Neoplasms
synonym: "Benign Thyroid Gland Neoplasm" EXACT []
synonym: "Thyroid Benign Neoplasm" EXACT []
xref: EFO:1000122
xref: RDO:9003196
is_a: DOID:9004547 ! Thyroid Neoplasms
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:9007497
name: Polyglucosan Body Disease, Adult Form
alt_id: MIM:263570
synonym: "Adult Polyglucosan Body Disease" EXACT []
synonym: "adult polyglucosan body neuropathy" EXACT []
synonym: "APBD" EXACT []
synonym: "APBN" EXACT []
synonym: "GBE1-related disorder" BROAD []
synonym: "GBE1-RELATED DISORDERS" BROAD []
synonym: "POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM" EXACT []
xref: MESH:C564878
xref: MONDO:0009897
is_a: DOID:2747 ! glycogen storage disease
is_a: DOID:863 ! nervous system disease

[Term]
id: DOID:9007498
name: Craniomandibular Osteopathy
def: "A bone disease involving the joint connecting upper and lower jaws." []
xref: OMIA:000236
xref: RDO:9001461
is_a: DOID:9006309 ! Mandibular Diseases
created_by: rgd
creation_date: 2017-03-13T00:00:00Z

[Term]
id: DOID:9007499
name: Pyloric Atresia
alt_id: MIM:265950
def: "A hereditary autosomal recessive obstruction of the pylorus. Affected fetuses have dilated stomachs and mothers may exhibit POLYHYDRAMNIOS." [MESH:C562561]
xref: MESH:C562561
is_a: DOID:3122 ! gastric outlet obstruction

[Term]
id: DOID:9007500
name: Prurigo
def: "A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)" [MESH:D011536]
xref: MESH:D011536
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9007501
name: Multiple System Atrophy (MSA) with Orthostatic Hypotension
alt_id: MIM:146500
synonym: "COQ2-RELATED CONDITION" BROAD []
synonym: "MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO" RELATED []
xref: MESH:C537381
is_a: DOID:4752 ! multiple system atrophy

[Term]
id: DOID:9007502
name: Brain Neoplasms
def: "Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." [MESH:D001932]
synonym: "benign brain neoplasm" NARROW []
synonym: "benign brain neoplasms" NARROW []
synonym: "Brain Malignant Neoplasm" NARROW []
synonym: "Brain Malignant Neoplasms" NARROW []
synonym: "brain neoplasm" EXACT []
synonym: "Brain Tumor" EXACT []
synonym: "Brain Tumors" EXACT []
synonym: "Intracranial Neoplasm" EXACT []
synonym: "Intracranial Neoplasms" EXACT []
synonym: "Malignant Primary Brain Neoplasms" NARROW []
synonym: "Malignant Primary Brain Tumors" NARROW []
synonym: "neoplasm of brain" EXACT []
synonym: "primary brain neoplasm" EXACT []
synonym: "Primary Brain Neoplasms" EXACT []
synonym: "primary brain tumor" EXACT []
synonym: "primary brain tumors" EXACT []
synonym: "recurrent brain tumor" EXACT []
synonym: "recurrent brain tumors" EXACT []
xref: EFO:0003833
xref: EFO:1000107
xref: MESH:D001932
is_a: DOID:9007701 ! Central Nervous System Neoplasms
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9007503
name: Striatonigral Degeneration, Infantile, Mitochondrial
alt_id: MIM:500003
synonym: "Infantile Bilateral Striatal Necrosis, Mitochondrial" EXACT []
xref: MESH:C564025
is_a: DOID:4751 ! striatonigral degeneration

[Term]
id: DOID:9007504
name: Chromosome Xq27.3-q28 Duplication Syndrome
def: "An X-linked recessive neurodevelopmental disorder characterized by mild mental retardation, mild facial dysmorphism, short stature, and primary testicular failure manifest as high-pitched voice, sparse body hair, abdominal obesity, and small testes. Caused by copy number increase of a 5.1-Mb region of chromosome Xq27.3-q28 encompassing at least 28 genes, including FMR1." [MIM:300869]
xref: MIM:300869
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:9004151 ! Sex Chromosome Disorders
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2022-11-21T15:23:17Z

[Term]
id: DOID:9007505
name: Familial Hypophosphatemic Rickets
def: "A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported." [MESH:D053098]
synonym: "hereditary hypophosphatemic rickets" EXACT []
synonym: "hereditary vitamin D resistant rickets" EXACT []
synonym: "HPDR" EXACT []
synonym: "HYP" EXACT []
xref: MESH:D053098
xref: MIM:PS193100
is_a: DOID:9001458 ! Hypophosphatemic Rickets
is_a: DOID:9007740 ! Familial Hypophosphatemia

[Term]
id: DOID:9007508
name: Generalized Essential Telangiectasia
alt_id: MIM:187260
synonym: "HBT" EXACT []
synonym: "Hereditary Benign Telangiectasia" EXACT []
xref: MESH:C562908
xref: MESH:C562998
xref: MONDO:0008534
xref: ORDO:280774
is_a: DOID:1272 ! telangiectasis

[Term]
id: DOID:9007509
name: Hhhh Syndrome
alt_id: MIM:306960
synonym: "Hereditary Hemihypotrophy Hemiparesis Hemiathetosis Syndrome" EXACT []
xref: MESH:C564411
is_a: DOID:225 ! syndrome
is_a: DOID:9002079 ! Paresis
is_a: DOID:9008739 ! Athetosis

[Term]
id: DOID:9007511
name: Bronchiolitis Obliterans Syndrome
def: "Bronchiolitis obliterans complication from allogenic HEMATOPOIETIC STEM CELL TRANSPLANTATION and LUNG TRANSPLANTATION." []
synonym: "BOS Bronchiolitis Obliterans Syndrome" EXACT []
synonym: "Chronic Graft-Versus-Host Disease" EXACT []
synonym: "Obstructive Chronic Lung Allograft Dysfunction" EXACT []
synonym: "Obstructive CLAD" EXACT []
xref: MESH:D000092122
xref: MONDO:0020547
is_a: DOID:0081267 ! graft-versus-host disease
is_a: DOID:9003073 ! Organizing Pneumonia
created_by: mtutaj
creation_date: 2022-12-12T13:57:43Z

[Term]
id: DOID:9007513
name: Steel Syndrome
def: "Steel syndrome (STLS) is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention. STLS is caused by homozygous or compound heterozygous mutation in the COL27A1 gene on chromosome 9q32. (OMIM)" []
synonym: "DISLOCATED HIPS AND RADIAL HEADS, CARPAL COALITION, SCOLIOSIS, AND SHORT STATURE" EXACT []
synonym: "STLS" EXACT []
xref: MIM:615155
is_a: DOID:225 ! syndrome
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
created_by: rgd
creation_date: 2015-06-11T00:00:00Z

[Term]
id: DOID:9007514
name: Developmental and Epileptic Encephalopathy 114
def: "This disease is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder." [MIM:620774]
synonym: "DEE114" EXACT []
xref: MIM:620774
xref: MONDO:0958331
is_a: DOID:0112202 ! developmental and epileptic encephalopathy
created_by: slaulederkind
creation_date: 2024-05-10T17:44:29Z

[Term]
id: DOID:9007516
name: C1q Deficiency
synonym: "C1QD" EXACT []
synonym: "Complement Component C1q Deficiency" EXACT []
xref: MIM:PS613652
is_a: DOID:2921 ! glomerulonephritis
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9074 ! systemic lupus erythematosus

[Term]
id: DOID:9007517
name: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2
synonym: "MECOM-RELATED CONDITION" EXACT []
synonym: "RUSAT2" EXACT []
xref: MIM:616738
xref: MONDO:0014758
is_a: DOID:9002496 ! Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia
created_by: rgd
creation_date: 2016-02-11T00:00:00Z

[Term]
id: DOID:9007518
name: Urogenital Adysplasia
xref: MESH:C536481
xref: RDO:0002082
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007519
name: Opitz Reynolds Fitzgerald syndrome
xref: MESH:C535713
xref: RDO:0000981
is_a: DOID:225 ! syndrome
is_a: DOID:9008003 ! Mandibulofacial Dysostosis
is_a: DOID:9008797 ! Facial Asymmetry

[Term]
id: DOID:9007520
name: Paraomphalocele
synonym: "Epigastric paraomphalocele" EXACT []
synonym: "Hypogastric paraomphalocele" EXACT []
xref: MESH:C537170
is_a: DOID:11044 ! gastroschisis

[Term]
id: DOID:9007521
name: Desbuquois Dysplasia 1
def: "Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx. Desbuquois dysplasia-1 (DBQD1) is caused by homozygous or compound heterozygous mutation in the CANT1 gene on chromosome 17q25. (OMIM)" []
synonym: "DBQD1" EXACT []
xref: MIM:251450
is_a: DOID:0060462 ! Desbuquois dysplasia
created_by: mtutaj
creation_date: 2019-03-26T00:00:00Z

[Term]
id: DOID:9007522
name: Aicardi-Goutieres Syndrome 6
synonym: "AGS6" EXACT []
xref: MIM:615010
xref: MONDO:0014007
is_a: DOID:0050629 ! Aicardi-Goutieres syndrome

[Term]
id: DOID:9007523
name: Femoracetabular Impingement
def: "A pathological mechanical process that can lead to hip failure. It is caused by abnormalities of the ACETABULUM and/or FEMUR combined with rigorous hip motion, leading to repetitive collisions that damage the soft tissue structures." [MESH:D057925]
synonym: "Femoracetabular Impingements" EXACT []
synonym: "Femoro Acetabular Impingement" EXACT []
synonym: "Femoroacetabular Impingement" EXACT []
synonym: "Femoro-Acetabular Impingements" EXACT []
synonym: "Femoroacetabular Impingements" EXACT []
synonym: "Femoroacetabular Impingement Syndrome" EXACT []
synonym: "Femoroacetabular Impingement Syndromes" EXACT []
xref: MESH:D057925
xref: RDO:0007807
is_a: DOID:381 ! arthropathy
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9007525
name: Leigh Syndrome Due To Mitochondrial Complex I Deficiency
synonym: "Atpase Deficiency, Nuclear-Encoded" EXACT []
xref: MESH:C564021
is_a: DOID:3652 ! Leigh disease

[Term]
id: DOID:9007526
name: Dysplasia Epiphysealis Hemimelica
alt_id: MIM:127800
synonym: "Trevor disease" EXACT []
xref: MESH:C537997
is_a: DOID:0080006 ! bone development disease

[Term]
id: DOID:9007527
name: Mitochondrial Myopathy, Infantile, Transient
def: "Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis." []
synonym: "COX DEFICIENCY MYOPATHY, INFANTILE, TRANSIENT" EXACT []
synonym: "Mitochondrial myopathy, infantile, due to reversible cytochrome c oxidase deficiency" EXACT []
synonym: "MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT, DUE TO RESPIRATORY CHAIN DEFICIENCY" EXACT []
synonym: "MMIT" EXACT []
synonym: "RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT" EXACT []
xref: MIM:500009
xref: RDO:9000705
is_a: DOID:699 ! mitochondrial myopathy

[Term]
id: DOID:9007528
name: Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges
alt_id: MIM:106995
synonym: "anonychia and absence-hypoplasia of distal phalanges" EXACT []
synonym: "Cooks syndrome" EXACT []
xref: MESH:C537766
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9001487 ! Facies
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9007529
name: Marfan Syndrome, Autosomal Recessive
synonym: "RECESSIVE MARFANOID SYNDROME WITH SEVERE HERNIATION" EXACT []
is_a: DOID:14323 ! Marfan syndrome

[Term]
id: DOID:9007530
name: Schizotaxia
xref: MESH:C536634
is_a: DOID:10646 ! schizotypal personality disorder

[Term]
id: DOID:9007531
name: Myopia 18, Autosomal Recessive
alt_id: MIM:255500
synonym: "Myopia 18" EXACT []
synonym: "MYP18" EXACT []
xref: MESH:C567606
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9007532
name: TAN-ALMURSHEDI SYNDROME
def: "This disease is an autosomal recessive neurodevelopmental disorder characterized by intrauterine growth retardation, poor overall growth with short stature and microcephaly, hypotonia, global developmental delay with impaired intellectual development, poor or absent speech, spasticity, and dysmorphic facial features." [MIM:620641]
synonym: "TANALS" EXACT []
xref: MIM:620641
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulederkind
creation_date: 2024-03-05T12:16:12Z

[Term]
id: DOID:9007533
name: Hantavirus Infections
def: "Infections with viruses of the genus HANTAVIRUS. This is associated with at least four clinical syndromes: HEMORRHAGIC FEVER WITH RENAL SYNDROME caused by viruses of the Hantaan group; a milder form of HFRS caused by SEOUL VIRUS; nephropathia epidemica caused by PUUMALA VIRUS; and HANTAVIRUS PULMONARY SYNDROME caused by SIN NOMBRE VIRUS." [MESH:D018778]
synonym: "Hantavirus Infection" EXACT []
synonym: "Hantavirus infectious disease" EXACT []
xref: EFO:0007295
xref: MESH:D018778
xref: RDO:0005767
is_a: DOID:9004137 ! Bunyaviridae Infections

[Term]
id: DOID:9007534
name: Complex Cortical Dysplasia with Other Brain Malformations 10
def: "This disease is an autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. (OMIM)" []
synonym: "APC2-RELATED CONDITION" BROAD []
synonym: "CDCBM10" EXACT []
xref: MIM:618677
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
created_by: mtutaj
creation_date: 2019-11-26T09:14:28Z

[Term]
id: DOID:9007535
name: Postmastectomy Angiosarcoma
synonym: "Post-Mastectomy Angiosarcoma" EXACT []
synonym: "Postmastectomy Stewart-Treves Syndrome" EXACT []
xref: MESH:C000608733
xref: RDO:0016055
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:9006460 ! Breast Cancer Lymphedema

[Term]
id: DOID:9007536
name: Moyamoya Disease 2
alt_id: MIM:607151
synonym: "MYMY2" EXACT []
synonym: "RNF213-RELATED CONDITION" EXACT []
xref: MESH:C536992
xref: NCI:C183312
is_a: DOID:13099 ! Moyamoya disease

[Term]
id: DOID:9007537
name: Venom Allergy
def: "Allergic reaction to venoms in insect bites and stings that is triggered by the immune system (i.e., HISTAMINE RELEASE)." []
synonym: "MESH:D000092422" EXACT []
synonym: "Venom Hypersensitivity" EXACT []
is_a: DOID:1205 ! allergic disease
is_a: DOID:9007301 ! Insect Bites and Stings
created_by: mtutaj
creation_date: 2022-12-12T14:45:04Z

[Term]
id: DOID:9007538
name: Maxillary Fractures
def: "Fractures of the upper jaw." [MESH:D008440]
synonym: "Maxillary Fracture" EXACT []
xref: MESH:D008440
is_a: DOID:9004559 ! Jaw Fractures

[Term]
id: DOID:9007539
name: Peritoneal Retractile Mesenteritis
xref: MESH:C538596
is_a: DOID:9006800 ! Peritoneal Panniculitis

[Term]
id: DOID:9007540
name: X-Linked Cone Dystrophy with Tapetal-like Sheen
alt_id: MIM:304030
xref: MESH:C535975
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0050795 ! cone dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:9007541
name: Common Variable Immunodeficiency 15
def: "An autosomal dominant immunologic disorder characterized by the onset of severe recurrent infections in infancy or early childhood. Caused by heterozygous mutation in the SEC61A1 gene on chromosome 3q21." [MIM:620670]
synonym: "CVID15" EXACT []
xref: MIM:620670
is_a: DOID:12177 ! common variable immunodeficiency
created_by: tutajm
creation_date: 2024-01-19T10:39:27Z

[Term]
id: DOID:9007542
name: Vascular Compression of the Duodenum
xref: MESH:C548420
xref: RDO:0004670
is_a: DOID:3557 ! superior mesenteric artery syndrome

[Term]
id: DOID:9007543
name: Familial Cirrhosis
alt_id: MIM:118900
alt_id: MIM:215600
synonym: "CIRRHOSIS, CRYPTOGENIC" NARROW []
synonym: "CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION" NARROW []
synonym: "CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO" NARROW []
synonym: "COPPER-OVERLOAD CIRRHOSIS" NARROW []
synonym: "COPPER TOXICOSIS, IDIOPATHIC" NARROW []
synonym: "ENDEMIC TYROLEAN INFANTILE CIRRHOSIS" NARROW []
synonym: "ETIC" NARROW []
synonym: "ICC" NARROW []
synonym: "ICT" NARROW []
synonym: "Indian childhood cirrhosis" NARROW []
synonym: "Sen syndrome" NARROW []
xref: MESH:C566123
is_a: DOID:5082 ! liver cirrhosis
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9007544
name: Vomiting, Anticipatory
def: "Vomiting caused by expectation of discomfort or unpleasantness." [MESH:D014840]
xref: MESH:D014840
xref: RDO:0006816
is_a: DOID:9008385 ! Vomiting

[Term]
id: DOID:9007546
name: Idiopathic Basal Ganglia Calcification 1
alt_id: MESH:C536275
alt_id: MESH:C537657
def: "Familial idiopathic basal ganglia calcification (IBGC) is characterized by bilateral basal ganglia calcification and has been associated with a variety of neurologic, cognitive, and psychiatric abnormalities. However, some affected individuals may be clinically asymptomatic. (OMIM)" []
synonym: "adult-onset idiopathic nonarteriosclerotic cerebral calcification" EXACT []
synonym: "bilateral striopallidodentate calcinosis" EXACT []
synonym: "BSPDC" EXACT []
synonym: "Cerebrovascular ferrocalcinosis" EXACT []
synonym: "familial Fahr disease" RELATED []
synonym: "Familial idiopathic basal ganglia calcification" EXACT []
synonym: "Fibgc" EXACT []
synonym: "IBGC1" EXACT []
synonym: "IBGC2" RELATED []
synonym: "IBGC3" RELATED []
synonym: "idiopathic basal ganglia calcification 2" RELATED []
synonym: "idiopathic basal ganglia calcification 3" RELATED []
synonym: "SLC20A2-RELATED CONDITION" EXACT []
synonym: "striopallidodentate calcinosis" EXACT []
synonym: "striopallidodentate calcinosis, autosomal dominant, adult onset" EXACT []
xref: MIM:213600
is_a: DOID:0060230 ! basal ganglia calcification
is_a: DOID:1289 ! neurodegenerative disease

[Term]
id: DOID:9007547
name: Incomplete Abortion
alt_id: RDO:0004691
def: "Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled." [MESH:D000027]
synonym: "Incomplete Abortions" EXACT []
xref: EFO:1001799
xref: MESH:D000027
is_a: DOID:9003281 ! Spontaneous Abortions

[Term]
id: DOID:9007548
name: Leukoencephalomyelopathy
def: "A recessively inherited neurodegenerative disorder that affects the white matter of the central nervous system (CNS). (www.vetmed.umn.edu)" []
synonym: "LEMP" EXACT []
xref: OMIA:001788
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
created_by: slaulede
creation_date: 2018-05-23T17:00:10Z

[Term]
id: DOID:9007549
name: Neurofibromatosis Type 4, of Riccardi
alt_id: MIM:162270
synonym: "atypical neurofibromatosis" EXACT []
synonym: "Neurofibromatosis Type IV, Of Riccardi" EXACT []
synonym: "Neurofibromatosis, variant form(s) of" EXACT []
synonym: "NF4" EXACT []
xref: MESH:C537392
is_a: DOID:8712 ! neurofibromatosis

[Term]
id: DOID:9007550
name: Volcke Soekarman Syndrome
xref: MESH:C537718
xref: RDO:0003607
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:2785 ! Dandy-Walker syndrome
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9007552
name: Sporadic Hemiplegic Migraine
xref: MESH:C563405
is_a: DOID:10024 ! migraine with aura

[Term]
id: DOID:9007553
name: neurotoxicity
def: "This disease state involves injury to the central or peripheral nervous system or damage to its function. This damage can include stroke, multiple sclerosis, encephalopathy, dementia, Alzheimer's disease, amnesia, dyskinesia, Parkinson's disease, tremor, convulsions and Guillain Barre syndrome." [EFO:0011057]
xref: EFO:0011057
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions
created_by: slaulede
creation_date: 2022-12-12T15:57:02Z

[Term]
id: DOID:9007554
name: Mydriasis
def: "Dilation of pupils to greater than 6 mm combined with failure of the pupils to constrict when stimulated with light. This condition may occur due to injury of the pupillary fibers in the oculomotor nerve, in acute angle-closure glaucoma, and in ADIE SYNDROME." [MESH:D015878]
xref: HP:0011499
xref: MESH:D015878
is_a: DOID:238 ! pupil disease

[Term]
id: DOID:9007555
name: Spinal Muscular Atrophy with Congenital Bone Fractures 2
synonym: "SMABF2" EXACT []
xref: MIM:616867
is_a: DOID:9004171 ! Spinal Muscular Atrophy with Congenital Bone Fractures

[Term]
id: DOID:9007556
name: Arima Syndrome
alt_id: MIM:243910
synonym: "cerebro-oculo-hepato-renal syndrome" EXACT []
synonym: "chorioretinal coloboma with cerebellar vermis aplasia" EXACT []
synonym: "Dekaban Arima syndrome" EXACT []
synonym: "Joubert syndrome with bilateral chorioretinal coloboma" EXACT []
xref: MESH:C537430
is_a: DOID:0080322 ! polycystic kidney disease
is_a: DOID:12270 ! coloboma
is_a: DOID:225 ! syndrome
is_a: DOID:2786 ! cerebellar disease

[Term]
id: DOID:9007557
name: Laryngeal Papillomatosis
synonym: "Juvenile laryngeal papillomatosis" EXACT []
synonym: "Recurrent laryngeal papillomatosis" EXACT []
synonym: "Warts in the throat" EXACT []
xref: MESH:C537876
xref: RDO:0003787
is_a: DOID:2615 ! papilloma
is_a: DOID:9003613 ! Laryngeal Neoplasms

[Term]
id: DOID:9007558
name: Acute Experimental Pancreatitis
def: "Acute inflammation of the pancreas induced experimentally in laboratory animals." []
is_a: DOID:2913 ! acute pancreatitis
is_a: DOID:9006263 ! Experimental Pancreatitis

[Term]
id: DOID:9007559
name: Thyroglossal Cyst
def: "A cyst in the neck caused by persistence of portions of, or by lack of closure of, the primitive thyroglossal duct. (Dorland, 27th ed)" [MESH:D013955]
synonym: "Thyroglossal Cysts" EXACT []
synonym: "Thyroglossal Duct Cyst" EXACT []
synonym: "Thyroglossal Duct Cysts" EXACT []
synonym: "Thyrolingual Cyst" EXACT []
synonym: "Thyrolingual Cysts" EXACT []
xref: EFO:1000585
xref: MESH:D013955
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9007560
name: Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities
def: "A severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. (OMIM)" []
synonym: "lipoyltransferase 2 deficiency" EXACT []
synonym: "LIPT2D" EXACT []
synonym: "NELABA" EXACT []
xref: MIM:617668
is_a: DOID:936 ! brain disease
created_by: rgd
creation_date: 2017-12-04T00:00:00Z

[Term]
id: DOID:9007561
name: Premature Ovarian Failure 23
def: "A disease characterized by female infertility due to reduction of ovarian reserve. Caused by homozygous mutation in the MEIOB gene on chromosome 16p13." [MIM:620686]
synonym: "POF23" EXACT []
synonym: "primary ovarian insufficiency 23" EXACT []
xref: MIM:620686
is_a: DOID:9002679 ! Premature Ovarian Failure, Familial
created_by: tutajm
creation_date: 2024-01-31T09:13:47Z

[Term]
id: DOID:9007562
name: Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
alt_id: MIM:260910
synonym: "Dissecting Cellulitis of the Scalp" EXACT []
xref: MESH:C562486
is_a: DOID:3136 ! scalp dermatosis
is_a: DOID:3488 ! cellulitis
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9007563
name: Halal Setton Wang Syndrome
synonym: "Hidrotic ectodermal dysplasia Halal type" EXACT []
xref: MESH:C535621
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9007565
name: Fatal Pneumococcal Waterhouse-Friderichsen Syndrome
alt_id: RDO:0002330
xref: MESH:C536685
is_a: DOID:9931 ! Waterhouse-Friderichsen syndrome

[Term]
id: DOID:9007567
name: Ritscher-Schinzel Syndrome 4
def: "Characterized by a constellation of congenital anomalies, including dysmorphic craniofacial features and structural brain anomalies, such as Dandy-Walker malformation, hindbrain malformations, or agenesis of the corpus callosum, associated with global developmental delay and impaired intellectual development. Caused by heterozygous mutation in the DPYSL5 gene on chromosome 2p23. (OMIM)" []
synonym: "RTSC4" EXACT []
xref: MIM:619435
is_a: DOID:0060565 ! Ritscher-Schinzel syndrome
created_by: mtutaj
creation_date: 2021-07-27T14:41:47Z

[Term]
id: DOID:9007568
name: Circulating Neoplastic Cells
def: "Exfoliate neoplastic cells circulating in the blood and associated with metastasizing tumors." [MESH:D009360]
synonym: "Circulating Neoplastic Cell" EXACT []
synonym: "Circulating Tumor Cell" EXACT []
synonym: "circulating tumor cells" EXACT []
synonym: "Embolic Tumor Cell" EXACT []
synonym: "Embolic Tumor Cells" EXACT []
synonym: "Neoplasm Circulating Cell" EXACT []
synonym: "Neoplasm Circulating Cells" EXACT []
synonym: "Tumor Embolism" EXACT []
synonym: "tumor embolisms" EXACT []
xref: MESH:D009360
is_a: DOID:9000965 ! Neoplasm Metastasis

[Term]
id: DOID:9007569
name: Incomplete Sertoli Cell-Only Syndrome
xref: MESH:C564033
xref: RDO:0013132
is_a: DOID:14227 ! azoospermia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9007570
name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES
def: "This disease is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech, and delayed walking with an abnormal gait." [MIM:620445]
synonym: "NEDMIM" EXACT []
xref: MIM:620445
is_a: DOID:10907 ! microcephaly
is_a: DOID:480 ! movement disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2023-08-29T09:35:39Z

[Term]
id: DOID:9007571
name: Hyperlipoproteinemias
def: "Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation." [MESH:D006951]
synonym: "Hyperlipoproteinemia" EXACT []
xref: MESH:D006951
is_a: DOID:1168 ! familial hyperlipidemia

[Term]
id: DOID:9007572
name: Congenital Deafness, with Vitiligo and Achalasia
alt_id: MIM:221350
xref: MESH:C565642
is_a: DOID:12306 ! vitiligo
is_a: DOID:9008681 ! Deafness
is_a: DOID:9164 ! achalasia

[Term]
id: DOID:9007573
name: Flatfoot
def: "A foot anomaly in which one or more of the arches of the foot have flattened out." [MESH:D005413]
synonym: "Acquired Adult Flatfoot Deformity" EXACT []
synonym: "CALCANEOVALGUS DEFORMITY" EXACT []
synonym: "Convex Foot" EXACT []
synonym: "Convex Pes Valgus" EXACT []
synonym: "Flat Feet" EXACT []
synonym: "Flatfeet" EXACT []
synonym: "Flat Foot" EXACT []
synonym: "Flexible Flatfoot" EXACT []
synonym: "Pes Planus" EXACT []
synonym: "Rigid Flatfoot" EXACT []
synonym: "Talipes Calcaneovalgus" EXACT []
synonym: "Talipes Valgus" EXACT []
synonym: "Vertical Talus" EXACT []
xref: EFO:0003874
xref: MESH:D005413
is_a: DOID:9007152 ! Talipes

[Term]
id: DOID:9007574
name: Osteoid Osteoma
alt_id: MIM:259550
def: "Benign circumscribed tumor of SPONGY BONE occurring especially in the bones of the extremities and vertebrae, most often in young persons." [MESH:D010017]
synonym: "Osteoid Osteomas" EXACT []
xref: MESH:D010017
xref: NCI:C3297
is_a: DOID:9004412 ! Osteoma

[Term]
id: DOID:9007575
name: chronic rhinosinusitis with nasal polyps
def: "This is a type of chronic rhinosinusitis that is characterized by the presence of nasal polyps." [EFO:1002029]
synonym: "CRSwNP" EXACT []
xref: EFO:1002029
is_a: DOID:9006771 ! Chronic Rhinosinusitis
created_by: slaulede
creation_date: 2023-02-24T16:26:48Z

[Term]
id: DOID:9007576
name: Scorpion Stings
def: "The effects, both local and systemic, caused by the bite of SCORPIONS." [MESH:D065008]
synonym: "Scorpionism" EXACT []
synonym: "Scorpionisms" EXACT []
synonym: "Scorpion Sting" EXACT []
xref: MESH:D065008
is_a: DOID:9002550 ! Bites and Stings

[Term]
id: DOID:9007577
name: Jervell And Lange-Nielsen Syndrome 2
alt_id: MIM:612347
synonym: "Jlns2" EXACT []
synonym: "KCNE1-RELATED CONDITION" BROAD []
xref: MESH:C567343
xref: RDO:0015438
is_a: DOID:2842 ! Jervell-Lange Nielsen syndrome

[Term]
id: DOID:9007578
name: LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT
def: "This is a disease syndrome which includes global developmental delay, developmental regression, loss of independent ambulation, decreased body weight, decreased body height, and various other symptoms." []
is_a: DOID:863 ! nervous system disease
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2022-06-27T14:29:33Z

[Term]
id: DOID:9007579
name: Arbovirus Infections
def: "Infections caused by arthropod-borne viruses, general or unspecified." [MESH:D001102]
synonym: "Arbovirus Infection" EXACT []
xref: EFO:1001269
xref: MESH:D001102
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9007580
name: Elliott Ludman Teebi Syndrome
xref: MESH:C536204
xref: RDO:0001684
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:37 ! skin disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007581
name: Familial Atrial Fibrillation 6
alt_id: MIM:612201
alt_id: RDO:0015478
synonym: "ATFB6" EXACT []
synonym: "NPPA-RELATED CONDITION" BROAD []
xref: MESH:C567400
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9007582
name: Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase
alt_id: MIM:240000
xref: MESH:C565489
is_a: DOID:0060040 ! pervasive developmental disorder
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1920 ! hyperuricemia
is_a: DOID:653 ! purine-pyrimidine metabolic disorder

[Term]
id: DOID:9007583
name: Cysts
def: "Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues." [MESH:D003560]
synonym: "Cyst" EXACT []
synonym: "Endometrial Cyst" NARROW []
synonym: "Nabothian Cyst" NARROW []
xref: EFO:1000232
xref: EFO:1000390
xref: MESH:D003560
is_a: DOID:14566 ! disease of cellular proliferation
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9007584
name: Von Willebrand Factor, Deficiency
alt_id: RDO:0000237
synonym: "REDUCED VON WILLEBRAND FACTOR ACTIVITY" EXACT []
xref: MESH:C531844
is_a: DOID:12531 ! von Willebrand's disease

[Term]
id: DOID:9007585
name: Postpartum Hemorrhage
def: "Excess blood loss from uterine bleeding associated with OBSTETRIC LABOR or CHILDBIRTH. It is defined as blood loss greater than 500 ml or of the amount that adversely affects the maternal physiology, such as BLOOD PRESSURE and HEMATOCRIT. Postpartum hemorrhage is divided into two categories, immediate (within first 24 hours after birth) or delayed (after 24 hours postpartum)." [MESH:D006473]
synonym: "Delayed Postpartum Hemorrhage" EXACT []
synonym: "Immediate Postpartum Hemorrhage" EXACT []
xref: EFO:0009579
xref: MESH:D006473
is_a: DOID:9000610 ! Obstetric Labor Complications
is_a: DOID:9001791 ! Puerperal Disorders
is_a: DOID:9006889 ! Uterine Hemorrhage

[Term]
id: DOID:9007586
name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER
def: "This disease is characterized by speech delay and language difficulties, behavioral abnormalities, and variably impaired intellectual development (in most patients)." [MIM:620782]
synonym: "NEDLAAD" EXACT []
xref: MIM:620782
is_a: DOID:1094 ! attention deficit hyperactivity disorder
is_a: DOID:12849 ! autistic disorder
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:93 ! language disorder
created_by: slaulederkind
creation_date: 2024-05-28T12:46:32Z

[Term]
id: DOID:9007587
name: Autosomal Dominant Intellectual Developmental Disorder 74
def: "A disease characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features. Caused by heterozygous mutation in the HNRNPC gene on chromosome 14q11." [MIM:620688]
synonym: "MRD74" EXACT []
xref: MIM:620688
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: tutajm
creation_date: 2024-02-05T09:33:01Z

[Term]
id: DOID:9007588
name: Heart Injuries
def: "General or unspecified injuries to the heart." [MESH:D006335]
synonym: "Heart Injury" EXACT []
synonym: "Traumatic Cardiac Rupture" EXACT []
synonym: "Traumatic Cardiac Ruptures" EXACT []
synonym: "Traumatic Heart Rupture" EXACT []
synonym: "Traumatic Heart Ruptures" EXACT []
xref: EFO:0009506
xref: MESH:D006335
is_a: DOID:9001954 ! Thoracic Injuries

[Term]
id: DOID:9007589
name: Ventriculomegaly with Defects of the Radius and Kidney
alt_id: MIM:602200
xref: MESH:C566565
is_a: DOID:10908 ! hydrocephalus

[Term]
id: DOID:9007590
name: Gouty Arthritis
def: "Arthritis, especially of the great toe, as a result of gout. Acute gouty arthritis often is precipitated by trauma, infection, surgery, etc. The initial attacks are usually monoarticular but later attacks are often polyarticular. Acute and chronic gouty arthritis are associated with accumulation of MONOSODIUM URATE in and around affected joints." [MESH:D015210]
synonym: "Gouty Arthritides" EXACT []
xref: MESH:D015210
is_a: DOID:13189 ! gout

[Term]
id: DOID:9007591
name: Hypermetabolism due to Defect in Mitochondria
alt_id: MIM:238800
synonym: "HUMOP1" EXACT []
synonym: "HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIAL COUPLING" BROAD []
synonym: "Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-1" EXACT []
synonym: "Luft syndrome" EXACT []
xref: MESH:C565498
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9007592
name: Malocclusion, Angle Class I
def: "Malocclusion in which the mandible and maxilla are anteroposteriorly normal as reflected by the relationship of the first permanent molar (i.e., in neutroclusion), but in which individual teeth are abnormally related to each other." [MESH:D008311]
synonym: "Angle Class I" EXACT []
xref: MESH:D008311
xref: RDO:0006055
is_a: DOID:9000121 ! Malocclusion

[Term]
id: DOID:9007593
name: Naguib-Richieri-Costa Syndrome
alt_id: MIM:239710
alt_id: RDO:0004296
synonym: "acrofrontofacionasal dysostosis 2" EXACT []
synonym: "Acrofrontofacionasal dysostosis, severe" EXACT []
synonym: "Acrofrontofacionasal Dysostosis with Genitourinary Anomalies" EXACT []
synonym: "Hypertelorism, Hypospadias, and Polysyndactyly Syndrome" EXACT []
synonym: "hypertelorism hypospadias polysyndactyly syndrome" EXACT []
synonym: "Naguib syndrome" EXACT []
xref: MESH:C538332
is_a: DOID:10892 ! hypospadias
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9003133 ! Hypertelorism

[Term]
id: DOID:9007594
name: Canine Hip Dysplasia
def: "A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age." [MESH:D006619]
xref: MESH:D006619
is_a: DOID:9006855 ! Dog Diseases

[Term]
id: DOID:9007595
name: Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome
def: "Syndrome with clinical features of both ASTHMA and COPD. (MESH)" []
synonym: "Asthma-COPD Overlap Syndrome" EXACT []
xref: MESH:D000080445
is_a: DOID:3083 ! chronic obstructive pulmonary disease
created_by: mtutaj
creation_date: 2020-01-30T12:46:31Z

[Term]
id: DOID:9007596
name: Car Factor Deficiency
alt_id: MIM:114650
xref: MESH:C566176
is_a: DOID:1247 ! blood coagulation disease

[Term]
id: DOID:9007597
name: Thyroid Cancer, Nonmedullary, 5
alt_id: RDO:9000786
synonym: "NMTC5" EXACT []
synonym: "susceptibility to nonmedullary thyroid cancer-5" RELATED []
xref: MIM:616535
is_a: DOID:3969 ! papillary thyroid carcinoma

[Term]
id: DOID:9007598
name: gastric hemorrhage
def: "This is bleeding from the gastric wall." [NCI:C54582]
synonym: "stomach hemorrhage" EXACT []
xref: EFO:0009879
is_a: DOID:9008975 ! Gastrointestinal Hemorrhage
created_by: slaulede
creation_date: 2022-12-08T14:46:24Z

[Term]
id: DOID:9007599
name: Ocular Onchocerciasis
def: "Filarial infection of the eyes transmitted from person to person by bites of Onchocerca volvulus-infected black flies. The microfilariae of Onchocerca are thus deposited beneath the skin. They migrate through various tissues including the eye. Those persons infected have impaired vision and up to 20% are blind. The incidence of eye lesions has been reported to be as high as 30% in Central America and parts of Africa." [MESH:D015827]
synonym: "Ocular Onchocerciases" EXACT []
synonym: "River Blindness" EXACT []
xref: EFO:0007398
xref: MESH:D015827
is_a: DOID:11678 ! onchocerciasis
is_a: DOID:9004432 ! Parasitic Eye Infections

[Term]
id: DOID:9007600
name: Renal and Mullerian Duct Hypoplasia
alt_id: MIM:266810
xref: MESH:C564853
is_a: DOID:9001487 ! Facies
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9007601
name: endotoxin shock
def: "When endotoxemia, a condition characterized by the presence of endotoxins (bacterial lipopolysacharrides) in the blood is accompanied by hypotension despite adequate fluid infusion, it is called endotoxin shock. On lysis of, or secretion by gram-negative bacteria, bacterial lipopolysacharride (LPS) enters the systemic circulation and initiates a pathophysiologic cascade of pro-inflammatory mediators." [https://en.wikipedia.org/wiki/Lipopolysaccharide, PMID:34715589]
synonym: "endotoxic shock" EXACT []
synonym: "septic shock" BROAD []
xref: EFO:0006834
is_a: DOID:9005930 ! Endotoxemia
created_by: slaulede
creation_date: 2022-02-01T18:12:02Z

[Term]
id: DOID:9007602
name: Sillence Syndrome
alt_id: MIM:113450
synonym: "Brachydactyly-distal symphalangism syndrome" EXACT []
xref: MESH:C537338
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9007603
name: Bone Tissue Neoplasms
alt_id: RDO:0006252
def: "Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones." [MESH:D018213]
synonym: "bone tissue neoplasm" EXACT []
synonym: "Bony Tissue Neoplasm" EXACT []
synonym: "bony tissue neoplasms" EXACT []
xref: MESH:D018213
is_a: DOID:9003944 ! Connective Tissue Neoplasms

[Term]
id: DOID:9007604
name: Hemoglobin M Disease
synonym: "HEMOGLOBIN M (SASKATOON)" RELATED []
xref: MESH:C581942
xref: RDO:0015941
is_a: DOID:10783 ! methemoglobinemia

[Term]
id: DOID:9007605
name: Renal Hypouricemia
alt_id: MIM:220150
synonym: "Dalmatian hypouricemia" EXACT []
synonym: "HEREDITARY RENAL HYPOURICEMIA" EXACT []
synonym: "Hypouricemia, Renal, 1" EXACT []
synonym: "RHUC1" EXACT []
xref: MESH:C537757
is_a: DOID:447 ! renal tubular transport disease
is_a: DOID:9003311 ! Urinary Calculi

[Term]
id: DOID:9007606
name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
def: "This disease is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay." [MIM:619841]
synonym: "CDC42BPB-RELATED DISORDER" EXACT []
synonym: "CDC42BPB-RELATED NEURODEVELOPMENTAL SYNDROME" EXACT []
synonym: "CHOCNS" EXACT []
xref: MIM:619841
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2022-06-10T13:49:48Z

[Term]
id: DOID:9007607
name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES
def: "This disease is an autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, seizures, distinctive facial features, scoliosis, delayed closure of the anterior fontanel, and nonspecific brain abnormalities." [MIM:619797]
synonym: "HDAC4-RELATED CONDITION" EXACT []
synonym: "NEDCHF" EXACT []
xref: MIM:619797
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2022-05-05T17:09:38Z

[Term]
id: DOID:9007608
name: Neoplastic Cell Transformation
alt_id: MIM:614401
def: "Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill." [MESH:D002471]
synonym: "ACTFS" EXACT []
synonym: "Cell Neoplastic Transformations" EXACT []
synonym: "tumorigenic transformation" EXACT []
synonym: "tumorigenic transformations" EXACT []
xref: MESH:D002471
is_a: DOID:9007702 ! Carcinogenesis

[Term]
id: DOID:9007610
name: Freiberg's Disease
synonym: "Freiberg's infraction" EXACT []
synonym: "Freiberg-Kohler syndrome" EXACT []
synonym: "Kohler's second disease" EXACT []
synonym: "Second metatarsal osteochondrosis" EXACT []
xref: MESH:C535636
is_a: DOID:9006161 ! Osteochondritis

[Term]
id: DOID:9007611
name: Chromosome 21 Ring
xref: MESH:C537109
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9007612
name: Arachnoid Cysts
alt_id: MIM:207790
def: "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)" [MESH:D016080]
synonym: "Arachnoid Cyst" EXACT []
synonym: "Arachnoid Diverticula" EXACT []
synonym: "Arachnoid Diverticulas" EXACT []
synonym: "Intracranial Arachnoid Cyst" EXACT []
synonym: "Intracranial Arachnoid Cysts" EXACT []
synonym: "Leptomeningeal Cyst" EXACT []
synonym: "Leptomeningeal Cysts" EXACT []
xref: MESH:D016080
is_a: DOID:9003857 ! Central Nervous System Cysts

[Term]
id: DOID:9007614
name: Paroxysmal Atrial Fibrillation
def: "A sudden onset and/or short duration of an abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart." []
synonym: "intermittent atrial fibrillation" EXACT []
synonym: "PAF" EXACT []
synonym: "paroxysmal atrial fibrillations" EXACT []
is_a: DOID:0060224 ! atrial fibrillation

[Term]
id: DOID:9007615
name: Primary Ciliary Dyskinesia 53
def: "An autosomal recessive disorder characterized by randomization of the left-right body asymmetry and respiratory symptoms. Caused by homozygous mutation in the calaxin gene (CLXN) on chromosome 8q11." [MIM:620642]
synonym: "CILD53" EXACT []
xref: MIM:620642
xref: MONDO:0957991
is_a: DOID:9562 ! primary ciliary dyskinesia
created_by: tutajm
creation_date: 2023-12-04T13:00:08Z

[Term]
id: DOID:9007616
name: Polyglucosan Body Myopathy 1 with or without Immunodeficiency
def: "An autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. (OMIM)" []
synonym: "PBMEI" EXACT []
synonym: "PGBM1" EXACT []
synonym: "polyglucosan body myopathy-1" EXACT []
synonym: "POLYGLUCOSAN BODY MYOPATHY 1 WITH IMMUNODEFICIENCY" NARROW []
synonym: "POLYGLUCOSAN BODY MYOPATHY 1 WITHOUT IMMUNODEFICIENCY" NARROW []
synonym: "POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH IMMUNODEFICIENCY" NARROW []
synonym: "POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH OR WITHOUT IMMUNODEFICIENCY" EXACT []
synonym: "POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY" NARROW []
xref: MIM:615895
is_a: DOID:2747 ! glycogen storage disease
is_a: DOID:9005532 ! Muscle Weakness
created_by: rgd
creation_date: 2017-03-30T00:00:00Z

[Term]
id: DOID:9007617
name: Conotruncal Cardiac Defects
alt_id: MIM:217095
synonym: "CAFS" NARROW []
synonym: "CONOTRUNCAL ANOMALY FACE SYNDROME" NARROW []
synonym: "CONOTRUNCAL DEFECT" EXACT []
synonym: "conotruncal heart defect" EXACT []
synonym: "conotruncal heart malformations" EXACT []
synonym: "CTHM" EXACT []
synonym: "DORV" NARROW []
synonym: "DOUBLE-OUTLET RIGHT VENTRICLE" NARROW []
synonym: "INTERRUPTED AORTIC ARCH" NARROW []
synonym: "PERSISTENT TRUNCUS ARTERIOSUS" NARROW []
synonym: "PTA" NARROW []
synonym: "Truncus arteriosus communis" EXACT []
xref: EFO:0005679
xref: MESH:C535464
xref: MONDO:0016581
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:6406 ! double outlet right ventricle
is_a: DOID:9003752 ! Persistent Truncus Arteriosus

[Term]
id: DOID:9007618
name: Fractures, Multiple
def: "Injuries involving the breaking of either several bones or one bone in two or more places." [MESH:D000069076]
synonym: "multiple bone fractures" EXACT []
synonym: "multiple fractures" EXACT []
xref: EFO:0009513
xref: MESH:D000069076
xref: RDO:0016005
is_a: DOID:9000367 ! Multiple Trauma
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9007619
name: Familial Mediterranean Fever, Autosomal Dominant
synonym: "Familial Mediterranean fever, AD" EXACT []
synonym: "FMF, AUTOSOMAL DOMINANT" EXACT []
xref: MIM:134610
is_a: DOID:2987 ! familial Mediterranean fever

[Term]
id: DOID:9007620
name: Triple X Syndrome
synonym: "47,Xxx" EXACT []
synonym: "47,XXX syndrome" EXACT []
synonym: "Super female" EXACT []
synonym: "Triple-X chromosome syndrome" EXACT []
synonym: "Triple-X female" EXACT []
synonym: "Triplo X syndrome" EXACT []
synonym: "Trisomy X" EXACT []
synonym: "XXX syndrome" EXACT []
xref: MESH:C535318
xref: NCI:C129718
xref: RDO:0000369
is_a: DOID:225 ! syndrome
is_a: DOID:9003262 ! Sex Chromosome Disorders of Sex Development
is_a: DOID:9003307 ! Sex Chromosome Aberrations
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9007621
name: Craniocerebral Trauma
def: "Traumatic injuries involving the cranium and intracranial structures (i.e., BRAIN; CRANIAL NERVES; MENINGES; and other structures). Injuries may be classified by whether or not the skull is penetrated (i.e., penetrating vs. nonpenetrating) or whether there is an associated hemorrhage." [MESH:D006259]
synonym: "Craniocerebral Injuries" EXACT []
synonym: "Craniocerebral Injury" EXACT []
synonym: "Craniocerebral Traumas" EXACT []
synonym: "Crushing Skull Injuries" EXACT []
synonym: "Crushing Skull Injury" EXACT []
synonym: "Forehead Trauma" EXACT []
synonym: "Forehead Traumas" EXACT []
synonym: "Frontal Region Trauma" EXACT []
synonym: "Frontal Region Traumas" EXACT []
synonym: "Head Injuries" EXACT []
synonym: "Head Injury" EXACT []
synonym: "Head Trauma" EXACT []
synonym: "Head Traumas" EXACT []
synonym: "Minor Head Injuries" EXACT []
synonym: "Minor Head Injury" EXACT []
synonym: "Multiple Head Injuries" EXACT []
synonym: "Multiple Head Injury" EXACT []
synonym: "Occipital Region Trauma" EXACT []
synonym: "Occipital Region Traumas" EXACT []
synonym: "Occipital Trauma" EXACT []
synonym: "Occipital Traumas" EXACT []
synonym: "Open Head Injuries" EXACT []
synonym: "Open Head Injury" EXACT []
synonym: "Parietal Region Trauma" EXACT []
synonym: "Parietal Region Traumas" EXACT []
synonym: "Superficial Head Injuries" EXACT []
synonym: "Superficial Head Injury" EXACT []
synonym: "Temporal Region Trauma" EXACT []
synonym: "Temporal Region Traumas" EXACT []
xref: EFO:0009505
xref: MESH:D006259
xref: RDO:0005059
is_a: DOID:9006062 ! Nervous System Trauma

[Term]
id: DOID:9007622
name: Acute Subdural Hematoma
def: "Accumulation of blood in the SUBDURAL SPACE with acute onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status." [MESH:D020199]
synonym: "acute subdural hematomas" EXACT []
synonym: "acute subdural hemorrhage" EXACT []
xref: MESH:D020199
is_a: DOID:9001521 ! Subdural Hematoma

[Term]
id: DOID:9007623
name: Late-Onset Carnitine Palmitoyltransferase II Deficiency
alt_id: MIM:255110
alt_id: RDO:0012709
synonym: "Carnitine Palmitoyltransferase II Deficiency, Adult-Onset" EXACT []
synonym: "Carnitine Palmitoyltransferase II Deficiency, Myopathic" EXACT []
synonym: "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED" EXACT []
synonym: "late-onset CPT2 deficiency" EXACT []
synonym: "myopathic CPT II deficiency" EXACT []
xref: MESH:C563461
is_a: DOID:0060235 ! carnitine palmitoyltransferase II deficiency
is_a: DOID:0080000 ! muscular disease
is_a: DOID:700 ! mitochondrial metabolism disease

[Term]
id: DOID:9007624
name: Frints De Smet Fabry Fryns Syndrome
synonym: "Symbrachydactyly of the hand and foot" EXACT []
xref: GARD:1680
xref: MESH:C538062
xref: MONDO:0015516
xref: ORDO:1570
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9007625
name: Primary Autosomal Recessive Microcephaly 28
def: "Characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood. Caused by homozygous mutation in the RRP7A gene on chromosome 22q13. (OMIM)" []
synonym: "MCPH28" EXACT []
xref: MIM:619453
is_a: DOID:0070296 ! primary autosomal recessive microcephaly
created_by: mtutaj
creation_date: 2021-07-29T16:16:52Z

[Term]
id: DOID:9007626
name: Myosclerosis, Autosomal Recessive
alt_id: MIM:255600
synonym: "congenital myosclerosis of Lowenthal" EXACT []
synonym: "Myopathy, Myosclerotic" EXACT []
synonym: "MYOSCLEROSIS" EXACT []
xref: MESH:C564968
is_a: DOID:422 ! congenital structural myopathy

[Term]
id: DOID:9007627
name: Porokeratosis 1, Multiple Types
def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and several individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Multiple types of porokeratosis (POROK1) are caused by heterozygous mutation in the PMVK gene gene on chromosome 1q21. (OMIM)" []
synonym: "Mibelli porokeratosis" EXACT []
synonym: "POROK1" EXACT []
synonym: "porokeratosis of Mibelli" EXACT []
xref: MIM:175800
is_a: DOID:3805 ! porokeratosis

[Term]
id: DOID:9007628
name: Immunodeficiency 118
def: "A disease characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination. Caused by hemizygous mutation in the MCTS1 gene on chromosome Xq24." [MIM:301115]
synonym: "IMD118" EXACT []
synonym: "Immunodeficiency 118, mycobacteriosis" EXACT []
synonym: "Immunodeficiency 118, mycobacteriosis, X-linked recessive" EXACT []
xref: MIM:301115
is_a: DOID:612 ! primary immunodeficiency disease
created_by: tutajm
creation_date: 2024-01-31T09:36:04Z

[Term]
id: DOID:9007629
name: Urological Manifestations
def: "Clinical disturbances of the urinary system." [MESH:D020924]
synonym: "Urological Manifestation" EXACT []
xref: MESH:D020924
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9007630
name: Parasitic Skin Diseases
def: "Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites." [MESH:D012876]
synonym: "Parasitic Skin Disease" EXACT []
synonym: "parasitic skin disorder" EXACT []
xref: MESH:D012876
is_a: DOID:1398 ! parasitic infectious disease
is_a: DOID:9000859 ! Infectious Skin Diseases

[Term]
id: DOID:9007631
name: Intrauterine Device Migration
def: "The shifting in position or location of an INTRAUTERINE DEVICE from its original placement." [MESH:D058736]
synonym: "Intrauterine Device Migrations" EXACT []
synonym: "IUD Migration" EXACT []
synonym: "IUD Migrations" EXACT []
xref: MESH:D058736
xref: RDO:0007851
is_a: DOID:9005684 ! Foreign-Body Migration

[Term]
id: DOID:9007632
name: Encephalocraniocutaneous Lipomatosis
alt_id: MIM:613001
synonym: "ECCL" EXACT []
synonym: "Fishman syndrome" EXACT []
xref: MESH:C535736
is_a: DOID:3153 ! lipomatosis
is_a: DOID:5614 ! eye disease
is_a: DOID:9001734 ! Neurocutaneous Syndromes

[Term]
id: DOID:9007633
name: Body Weight
def: "The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." [MESH:D001835]
synonym: "Body Weights" EXACT []
synonym: "Not4Curation" RELATED []
xref: EFO:0004338
xref: MESH:D001835
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9007634
name: Wrist Injuries
def: "Injuries to the wrist or the wrist joint." [MESH:D014954]
synonym: "Wrist Injury" EXACT []
xref: MESH:D014954
xref: RDO:0006834
is_a: DOID:9003309 ! Arm Injuries

[Term]
id: DOID:9007635
name: Progressive Supranuclear Palsy 3
alt_id: MIM:610898
synonym: "PSNP3" EXACT []
xref: MESH:C567050
is_a: DOID:678 ! progressive supranuclear palsy

[Term]
id: DOID:9007636
name: Tick Bites
def: "The effects, both local and systemic, caused by the bites of TICKS." [MESH:D064927]
synonym: "Tick Bite" EXACT []
xref: MESH:D064927
is_a: DOID:9002550 ! Bites and Stings

[Term]
id: DOID:9007638
name: Photogenic Epilepsy with Spastic Diplegia and Mental Retardation
alt_id: MIM:226800
xref: MESH:C565587
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10965 ! spastic diplegia
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:9007639
name: Metabolic Side Effects of Drugs and Substances
def: "Specific effects of drugs and substances on metabolic pathways such as those occurring through the CYTOCHROME P-450 ENZYME SYSTEM. These include effects that often result in DRUG INTERACTIONS; FOOD-DRUG INTERACTIONS; and HERB-DRUG INTERACTIONS." [MESH:D065606]
synonym: "Drug Effects on Metabolism" EXACT []
synonym: "Metabolic Side Effects of Drugs" EXACT []
synonym: "Metabolic Side Effects of Substances" EXACT []
synonym: "Substance Effects on Metabolism" EXACT []
xref: MESH:D065606
xref: RDO:0015974
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions

[Term]
id: DOID:9007640
name: Congenital Pseudoarthrosis
xref: MESH:C535762
is_a: DOID:9007769 ! Pseudarthrosis

[Term]
id: DOID:9007641
name: Cataract and Congenital Ichthyosis
alt_id: MIM:212400
synonym: "Syndromic cataract and congenital ichthyosis" EXACT []
xref: MESH:C538281
is_a: DOID:1697 ! ichthyosis
is_a: DOID:83 ! cataract

[Term]
id: DOID:9007643
name: Embryonal Rhabdomyosarcoma 1
alt_id: MIM:268210
synonym: "Rhabdomyosarcoma 1" EXACT []
synonym: "Rhabdomyosarcoma Chromosomal Region" EXACT []
synonym: "RMS1" EXACT []
synonym: "RMSCR" EXACT []
synonym: "RMSE1" EXACT []
xref: MESH:C537883
is_a: DOID:3246 ! embryonal rhabdomyosarcoma

[Term]
id: DOID:9007645
name: Chromosome 15q, partial deletion
synonym: "Deletion 15q1" EXACT []
synonym: "Deletion 15q25" EXACT []
synonym: "Monosomy 15q1" EXACT []
synonym: "Monosomy 15q25" EXACT []
xref: MESH:C538038
xref: RDO:0003972
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9007646
name: Chromosome 4, Trisomy 4q
synonym: "Duplication 4q" EXACT []
synonym: "Trisomy 4q" EXACT []
xref: MESH:C537644
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9007647
name: Trichiasis
def: "A disease of the eye in which the eyelashes abnormally turn inwards toward the eyeball producing constant irritation caused by motion of the lids." [MESH:D058457]
synonym: "Trichiases" EXACT []
xref: MESH:D058457
is_a: DOID:530 ! eyelid disease

[Term]
id: DOID:9007648
name: Thrombocytopenia 11
def: "A syndromic disorder characterized by dysmorphic facial features, multiple congenital anomalies that may involve the heart, brain, genitourinary, endocrine, and/or skeletal systems, chronic and persistent thrombocytopenia, sometimes with leukopenia or anemia, poor growth with microcephaly, hypotonia, and mildly impaired intellectual development or learning disabilities. Caused by heterozygous mutation in the RAP1B gene on chromosome 12q14." [MIM:620654]
synonym: "THC11" EXACT []
synonym: "Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies" EXACT []
xref: MIM:620654
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: tutajm
creation_date: 2024-01-05T15:20:35Z

[Term]
id: DOID:9007649
name: Congenital Disorder of Glycosylation Type IIaa
def: "An autosomal recessive disorder characterized by infantile mortality due to liver disease, skeletal abnormalities, and protein glycosylation defects. Caused by homozygous mutation in the STX5 gene on chromosome 11q12." [MIM:620454]
synonym: "CDG2AA" EXACT []
synonym: "CDG IIaa" EXACT []
synonym: "CDGIIAA" EXACT []
xref: MIM:620454
is_a: DOID:0050571 ! congenital disorder of glycosylation type II
created_by: mtutaj
creation_date: 2023-07-28T11:34:57Z

[Term]
id: DOID:9007650
name: Unconsciousness
def: "Loss of the ability to maintain awareness of self and environment combined with markedly reduced responsiveness to environmental stimuli. (From Adams et al., Principles of Neurology, 6th ed, pp344-5)" [MESH:D014474]
synonym: "Loss of Consciousness" EXACT []
synonym: "Unconscious State" EXACT []
synonym: "Unconscious States" EXACT []
xref: MESH:D014474
is_a: DOID:9000484 ! Consciousness Disorders

[Term]
id: DOID:9007651
name: Chronic Bronchitis
def: "A subcategory of CHRONIC OBSTRUCTIVE PULMONARY DISEASE. The disease is characterized by hypersecretion of mucus accompanied by a chronic (more than 3 months in 2 consecutive years) productive cough. Infectious agents are a major cause of chronic bronchitis." [MESH:D029481]
xref: EFO:0006505
xref: MESH:D029481
is_a: DOID:3083 ! chronic obstructive pulmonary disease
is_a: DOID:6132 ! bronchitis

[Term]
id: DOID:9007652
name: C1q Deficiency 3
def: "A C1q deficiency caused by homozygous mutation in the C1QC gene on chromosome 1p36." [MIM:620322]
synonym: "C1QD3" EXACT []
xref: MIM:620322
is_a: DOID:9007516 ! C1q Deficiency
created_by: mtutaj
creation_date: 2023-04-14T09:02:24Z

[Term]
id: DOID:9007653
name: Multiple Abnormalities
def: "Congenital abnormalities that affect more than one organ or body structure." [MESH:D000015]
synonym: "H3-3A-RELATED CONDITION" BROAD []
synonym: "H3F3A-RELATED CONDITION" NARROW []
synonym: "H3F3A-RELATED DISORDERS" BROAD []
synonym: "MULTIPLE CONGENITAL ANOMALIES" EXACT []
synonym: "Multiple congenital anomalies-hypotonia-seizures syndrome" NARROW []
synonym: "Multisystem Disorder" EXACT []
xref: MESH:D000015
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9007654
name: FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL
def: "A disease characterized by atrial arrhythmias, including flutter and fibrillation, atrial structural abnormalities with hypertrophic cardiomyopathy and fibrosis, and hypertension. Caused by homozygous mutation in the CORIN gene on chromosome 4p12." [MIM:620734]
synonym: "CMH30" EXACT []
xref: MIM:620734
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy
created_by: tutajm
creation_date: 2024-03-18T11:52:11Z

[Term]
id: DOID:9007655
name: Propofol Infusion Syndrome
def: "Rare and often fatal drug complication which affects patients undergoing long-term treatment with high doses of PROPOFOL. It is characterized by METABOLIC ACIDOSIS; HYPERLIPIDEMIA; RHABDOMYOLYSIS; cardiovascular CIRCULATORY COLLAPSE; CARDIAC FAILURE; and KIDNEY FAILURE." [MESH:D000072736]
synonym: "Propofol Infusion Syndromes" EXACT []
synonym: "Propofol Related Infusion Syndrome" EXACT []
synonym: "Propofol-Related Infusion Syndromes" EXACT []
synonym: "Propofol Syndrome" EXACT []
synonym: "Propofol Syndromes" EXACT []
xref: MESH:D000072736
xref: RDO:0016125
is_a: DOID:225 ! syndrome
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions

[Term]
id: DOID:9007656
name: Laryngeal Adductor Paralysis
alt_id: MIM:150270
synonym: "LAP" EXACT []
synonym: "Vocal Cord Dysfunction, Adductor Type" EXACT []
xref: MESH:C562861
xref: RDO:0012397
is_a: DOID:9000586 ! Vocal Cord Paralysis

[Term]
id: DOID:9007657
name: Chromosome 13q Deletion Syndrome
alt_id: RDO:0000621
synonym: "13q deletion syndrome" EXACT []
synonym: "Chromosome 13q deletion" EXACT []
synonym: "Chromosome 13q monosomy" EXACT []
synonym: "Chromosome 13q syndrome" EXACT []
synonym: "Deletion 13q" EXACT []
synonym: "Monosomy 13q" EXACT []
synonym: "Monosomy 13q syndrome" EXACT []
synonym: "Orbeli's syndrome" EXACT []
synonym: "Orbeli syndrome" EXACT []
xref: MESH:C535484
is_a: DOID:0060388 ! chromosomal deletion syndrome

[Term]
id: DOID:9007658
name: McDonough Syndrome
alt_id: MIM:248950
synonym: "Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" EXACT []
xref: MESH:C538158
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11383 ! cryptorchidism
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:4667 ! kyphosis
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007659
name: Anthracycline-induced Cardiotoxicity
def: "Cardiomyopathy in cancer patients caused by the use of the drug anthracyline." []
synonym: "acute ACT" NARROW []
synonym: "acute anthracycline-induced cardiomyopathy" NARROW []
synonym: "anthracycline-induced cardiomyopathy" EXACT []
synonym: "chronic ACT" NARROW []
is_a: DOID:9002371 ! Cardiotoxicity
created_by: rgd
creation_date: 2016-06-06T00:00:00Z

[Term]
id: DOID:9007660
name: Pallister-Hall-like Syndrome
alt_id: MIM:241800
synonym: "CHHS" NARROW []
synonym: "congenital hypothalamic hamartoma syndrome" NARROW []
synonym: "hamartoma of the hypothalamus" EXACT []
synonym: "hypothalamic hamartoma" EXACT []
synonym: "hypothalamic hamartomas" EXACT []
synonym: "PHLS" EXACT []
xref: MESH:C537158
is_a: DOID:1931 ! hypothalamic disease
is_a: DOID:9007253 ! Hamartoma

[Term]
id: DOID:9007661
name: Dwarfism
alt_id: OMIA:001772
def: "A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height." [MESH:D004392]
synonym: "DISPROPORTIONATE SHORT STATURE" NARROW []
synonym: "Nanism" EXACT []
synonym: "SD2" NARROW []
synonym: "short stature" EXACT []
synonym: "Skeletal dysplasia 2" NARROW []
xref: HP:0004322
xref: MESH:D004392
is_a: DOID:0080006 ! bone development disease
is_a: DOID:28 ! endocrine system disease
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9007662
name: Dwarfism with Tall Vertebrae
alt_id: MIM:126950
synonym: "Dwarfism Tall Vertebrae" EXACT []
synonym: "Dwarfism with disproportionately high vertebral bodies" EXACT []
synonym: "Short stature and tall vertebrae" EXACT []
xref: MESH:C535725
is_a: DOID:9005560 ! Congenital Hip Dislocation
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9007663
name: Frontotemporal Pachygyria
alt_id: MIM:610279
synonym: "Autosomal recessive frontotemporal pachygyria" EXACT []
xref: MESH:C538092
is_a: DOID:0050453 ! lissencephaly

[Term]
id: DOID:9007665
name: Bardet-Biedl Syndrome 1/7, Digenic
is_a: DOID:0110123 ! Bardet-Biedl syndrome 1
is_a: DOID:0110129 ! Bardet-Biedl syndrome 7
created_by: slaulede
creation_date: 2019-06-28T11:44:14Z

[Term]
id: DOID:9007666
name: Nanophthalmos 3
alt_id: MIM:611897
synonym: "Nanophthalmia 3" EXACT []
synonym: "NNO3" EXACT []
xref: MESH:C567498
is_a: DOID:0080634 ! nanophthalmos

[Term]
id: DOID:9007667
name: Heart Defects Limb Shortening
alt_id: MIM:212135
synonym: "Cardioskeletal syndrome, Kuwaiti type" EXACT []
synonym: "Congenital heart disease and skeletal malformations" EXACT []
xref: MESH:C535850
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007668
name: Carnitine Palmitoyltransferase II Deficiency, Infantile
alt_id: MIM:600649
alt_id: RDO:0012710
synonym: "carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia" EXACT []
synonym: "hepatic CPT II deficiency" EXACT []
synonym: "hepatocardiomuscular carnitine palmitoyltransferase II deficiency" EXACT []
synonym: "infantile CPT2 deficiency" EXACT []
xref: MESH:C563462
is_a: DOID:0060235 ! carnitine palmitoyltransferase II deficiency
is_a: DOID:409 ! liver disease
is_a: DOID:9993 ! hypoglycemia

[Term]
id: DOID:9007669
name: Familial Capillaro-Venous Leptomeningeal Angiomatosis
xref: MESH:C536609
is_a: DOID:9004079 ! Angiomatosis
is_a: DOID:9007502 ! Brain Neoplasms

[Term]
id: DOID:9007670
name: Alopecia Areata 1
alt_id: MIM:104000
synonym: "AA1" EXACT []
synonym: "ALOPECIA UNIVERSALIS" NARROW []
synonym: "AU" NARROW []
xref: MESH:C566303
is_a: DOID:986 ! alopecia areata

[Term]
id: DOID:9007671
name: Familial Isolated Pituitary Adenoma
alt_id: RDO:0011980
synonym: "familial isolated pituitary adenomas" EXACT []
xref: MESH:C566321
is_a: DOID:6255 ! growth hormone secreting pituitary adenoma

[Term]
id: DOID:9007672
name: Reardon Wilson Cavanagh Syndrome
alt_id: MIM:208850
synonym: "ADR syndrome" EXACT []
synonym: "Ataxia-deafness-retardation syndrome" EXACT []
synonym: "Ataxia, hearing loss, and mental retardation" EXACT []
synonym: "Familial ataxia, deafness, and developmental delay" EXACT []
xref: MESH:C535295
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9007673
name: Metatarsus Varus, Type I
alt_id: MIM:156520
xref: MESH:C563585
is_a: DOID:9000067 ! Congenital Foot Deformities

[Term]
id: DOID:9007674
name: Keppen-Lubinsky Syndrome
def: "A very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and characteristic dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth. (OMIM)" []
synonym: "KCNJ6-RELATED CONDITION" EXACT []
synonym: "KPLBS" EXACT []
xref: MIM:614098
xref: RDO:9001621
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:811 ! lipodystrophy
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9007675
name: Pallister Killian Syndrome
alt_id: MIM:601803
def: "Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10). (OMIM)" []
synonym: "hexasomy 12p, mosaic" EXACT []
synonym: "Isochromosome 12p syndrome" EXACT []
synonym: "Pallister-Killian Mosaic Syndrome" EXACT []
synonym: "Pallister-Killian Syndrome" EXACT []
synonym: "PKS" EXACT []
synonym: "Teschler-Nicola-Killian Syndrome" EXACT []
synonym: "tetrasomy 12p, mosaic" EXACT []
xref: MESH:C538105
xref: NCI:C75458
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9007676
name: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION
def: "This disease is an autosomal recessive disorder characterized by recurrent fever and autoinflammation affecting various organ systems. The onset of symptoms is in infancy or early childhood. Laboratory studies show leukocytosis and inflammatory markers (C-reactive protein and erythrocyte sedimentation rate (ESR)), but immunoglobulins and other immune cells are essentially normal. Autoantibodies are not present. The features are consistent with immune dysregulation. Treatment with TNF inhibitors may result in significant clinical improvement." [MIM:620795]
synonym: "AIFID" EXACT []
xref: MIM:620795
is_a: DOID:9000972 ! Fever
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: slaulederkind
creation_date: 2024-05-09T15:29:31Z

[Term]
id: DOID:9007677
name: Autosomal Dominant Intellectual Developmental Disorder 67
def: "Characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood. Caused by heterozygous mutation in the GRIA1 gene on chromosome 5q33." [MIM:619927]
synonym: "autosomal dominant mental retardation 67" EXACT []
synonym: "MRD67" EXACT []
xref: MIM:619927
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2022-06-30T16:33:56Z

[Term]
id: DOID:9007678
name: Dermatoosteolysis Kirghizian Type
alt_id: MIM:221810
synonym: "Kirghizian dermatoosteolysis" EXACT []
xref: MESH:C535373
is_a: DOID:13714 ! anodontia
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:4677 ! keratitis
is_a: DOID:8549 ! chronic ulcer of skin
is_a: DOID:9006081 ! Osteolysis

[Term]
id: DOID:9007679
name: Chronic recurrent multifocal osteomyelitis 3
def: "An autosomal dominant autoinflammatory bone disease characterized by early childhood onset of bone pain and arthritis caused by sterile osteomyelitis. Caused by heterozygous mutation in the IL1R1 gene on chromosome 2q12." [MIM:259680]
synonym: "CRMO3" EXACT []
xref: MIM:259680
is_a: DOID:0060645 ! chronic recurrent multifocal osteomyelitis
created_by: tutajm
creation_date: 2024-04-30T13:13:18Z

[Term]
id: DOID:9007680
name: Nuclear Type Mitochondrial Complex I Deficiency 39
def: "An autosomal recessive nuclear disorder of mitochondrial respiratory chain complex I characterized by intrauterine growth retardation and anemia and postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with a fatal outcome. Caused by homozygous mutation in NDUFB7 gene on chromosome 19p13." [MIM:620135]
synonym: "MC1DN39" EXACT []
xref: MIM:620135
is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency
created_by: mtutaj
creation_date: 2022-11-28T09:03:00Z

[Term]
id: DOID:9007681
name: Nonvital Tooth
def: "A tooth from which the dental pulp has been removed or is necrotic. (Boucher, Clinical Dental Terminology, 4th ed)" [MESH:D019553]
synonym: "Devitalized Teeth" EXACT []
synonym: "Devitalized Tooth" EXACT []
synonym: "Endodontically-Treated Teeth" EXACT []
synonym: "Endodontically-Treated Tooth" EXACT []
synonym: "Nonvital Teeth" EXACT []
synonym: "pulpless teeth" EXACT []
synonym: "pulpless tooth" EXACT []
xref: MESH:D019553
is_a: DOID:5330 ! dental pulp disease

[Term]
id: DOID:9007682
name: Trichohepatoneurodevelopmental Syndrome
synonym: "global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair" EXACT []
synonym: "THNS" EXACT []
xref: MIM:618268
is_a: DOID:225 ! syndrome
is_a: DOID:409 ! liver disease
is_a: DOID:421 ! hair disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006202 ! Pruritus
created_by: mtutaj
creation_date: 2019-04-09T14:21:33Z

[Term]
id: DOID:9007684
name: Cutaneous Small Vessel Lymphocytic Vasculitis
alt_id: MIM:609817
xref: MESH:C565222
is_a: DOID:865 ! vasculitis

[Term]
id: DOID:9007685
name: Cytosolic Acetoacetyl-CoA Thiolase Deficiency
alt_id: MIM:614055
synonym: "ACAT2D" EXACT []
synonym: "Acat2 Deficiency" EXACT []
synonym: "Acetocoenzyme A acetyltransferase 2 deficiency" EXACT []
synonym: "Acetyl-coa acetyltransferase 2 deficiency" EXACT []
xref: MESH:C536005
xref: RDO:0001412
is_a: DOID:3146 ! lipid metabolism disorder

[Term]
id: DOID:9007686
name: Cerebrocortical Degeneration of Infancy
alt_id: MIM:213950
xref: MESH:C565863
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:9007687
name: Weil Disease
alt_id: MESH:C540322
def: "A severe form of LEPTOSPIROSIS, usually caused by LEPTOSPIRA INTERROGANS SEROVAR ICTEROHAEMORRHAGIAE and occasionally other serovars. It is transmitted to humans by the rat and is characterized by hemorrhagic and renal symptoms with accompanying JAUNDICE." [MESH:D014895]
synonym: "canicola fever" EXACT []
synonym: "hemorrhagic jaundice" EXACT []
synonym: "icterohemorrhagic fever" EXACT []
synonym: "icterohemorrhagic leptospirosis" EXACT []
synonym: "Swineherd's disease" EXACT []
synonym: "Weil's disease" EXACT []
synonym: "Weils disease" EXACT []
xref: MESH:D014895
is_a: DOID:2297 ! leptospirosis

[Term]
id: DOID:9007688
name: Chronic Subdural Hematoma
def: "Accumulation of blood in the SUBDURAL SPACE with delayed onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status." [MESH:D020200]
synonym: "chronic subdural hematomas" EXACT []
synonym: "chronic subdural hemorrhage" EXACT []
xref: MESH:D020200
is_a: DOID:9001521 ! Subdural Hematoma

[Term]
id: DOID:9007690
name: Vulvar Dysesthesia Localized in the Vestibule
xref: MESH:C548479
xref: RDO:0004672
is_a: DOID:9006388 ! Vulvar Vestibulitis

[Term]
id: DOID:9007691
name: Fat Necrosis
alt_id: RDO:0005576
def: "A condition in which the death of adipose tissue results in neutral fats being split into fatty acids and glycerol." [MESH:D005218]
synonym: "Fat Necroses" EXACT []
synonym: "Steatonecroses" EXACT []
synonym: "Steatonecrosis" EXACT []
xref: MESH:D005218
is_a: DOID:9005749 ! Necrosis

[Term]
id: DOID:9007692
name: Insulin Resistance
def: "Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS." [MESH:D007333]
synonym: "FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF" RELATED []
synonym: "Insulin Resistance, Susceptibility To" RELATED []
synonym: "Insulin Resistance Syndrome, Type A" NARROW []
synonym: "Insulin Sensitivity" EXACT []
synonym: "Serum hdl cholesterol level, modifier of" RELATED []
xref: EFO:0002614
xref: MESH:D007333
xref: RDO:0003504
is_a: DOID:2018 ! hyperinsulinism

[Term]
id: DOID:9007693
name: CAPOS Syndrome
alt_id: MIM:601338
synonym: "CAPOS" EXACT []
synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss" EXACT []
synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss" EXACT []
xref: MESH:C535351
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9005219 ! Abnormal Reflexes

[Term]
id: DOID:9007694
name: COACH Syndrome 3
synonym: "COACH3" EXACT []
xref: MIM:619113
is_a: DOID:0111589 ! COACH syndrome
created_by: mtutaj
creation_date: 2020-12-02T10:45:20Z

[Term]
id: DOID:9007695
name: Coloboma of Alar-Nasal Cartilages with Telecanthus
synonym: "alar cartilages hypoplasia-coloboma-telecanthus syndrome" EXACT []
synonym: "frontonasal dysplasia with alar clefts" EXACT []
xref: GARD:588
xref: MESH:C535967
xref: MIM:203000
xref: MONDO:0008744
xref: ORDO:2007
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:12270 ! coloboma
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9007696
name: Parathyroid Cancer
synonym: "cancer of parathyroid" EXACT []
synonym: "cancer of the parathyroid" EXACT []
synonym: "parathyroid cancers" EXACT []
xref: RDO:9003919
is_a: DOID:170 ! endocrine gland cancer
is_a: DOID:9004331 ! Parathyroid Neoplasms
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:9007697
name: Charcot-Marie-Tooth Disease Type 6A
synonym: "Charcot-Marie-Tooth disease 6A" EXACT []
synonym: "CMT6A" EXACT []
synonym: "hereditary motor and sensory neuropathy, type VIA" EXACT []
synonym: "hereditary motor and sensory neuropathy, type VIA, with optic atrophy" EXACT []
synonym: "HMSN6A" EXACT []
synonym: "HMSN VIA" EXACT []
xref: MIM:601152
is_a: DOID:0080068 ! Charcot-Marie-Tooth disease type 6
created_by: mtutaj
creation_date: 2019-09-09T09:38:13Z

[Term]
id: DOID:9007698
name: Copper Deficiency, Familial Benign
alt_id: MIM:121270
synonym: "Familial benign hypocupremia" EXACT []
xref: MESH:C535468
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:421 ! hair disease
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:8741 ! seborrheic dermatitis

[Term]
id: DOID:9007699
name: Capillary Leak Syndrome with Monoclonal Gammopathy
synonym: "Periodic systemic capillary leak syndrome" EXACT []
xref: MESH:C535573
is_a: DOID:14400 ! capillary leak syndrome
is_a: DOID:9005358 ! Hypergammaglobulinemia

[Term]
id: DOID:9007700
name: Congenital Corneal Opacities, Cornea Guttata, and Corectopia
alt_id: MIM:608484
synonym: "Corneal Opacities, Congenital, with Cornea Guttata and Corectopia" EXACT []
xref: MESH:C563921
is_a: DOID:238 ! pupil disease
is_a: DOID:2566 ! corneal dystrophy

[Term]
id: DOID:9007701
name: Central Nervous System Neoplasms
def: "Benign and malignant neoplastic processes that arise from or secondarily involve the brain, spinal cord, or meninges." [MESH:D016543]
synonym: "central nervous system tumor" EXACT []
synonym: "central nervous system tumors" EXACT []
synonym: "neoplasm of central nervous system" EXACT []
synonym: "neoplasm of the central nervous system" EXACT []
synonym: "primary central nervous system neoplasms" EXACT []
xref: EFO:1000158
xref: MESH:D016543
xref: NCI:C9293
is_a: DOID:331 ! central nervous system disease
is_a: DOID:9006557 ! Nervous System Neoplasms

[Term]
id: DOID:9007702
name: Carcinogenesis
def: "The origin, production or development of cancer through genotypic and phenotypic changes which upset the normal balance between cell proliferation and cell death. Carcinogenesis generally requires a constellation of steps, which may occur quickly or over a period of many years." [MESH:D063646]
synonym: "Carcinogeneses" EXACT []
synonym: "Oncogeneses" EXACT []
synonym: "Oncogenesis" EXACT []
synonym: "Tumorigeneses" EXACT []
synonym: "Tumorigenesis" EXACT []
xref: MESH:D063646
is_a: DOID:9008192 ! Neoplastic Processes

[Term]
id: DOID:9007703
name: Phenacetin O-Deethylase, Deficiency of
alt_id: OMIA:001405
synonym: "Metabolizer of a cognitive enhancer" RELATED []
synonym: "PHENACETIN METABOLISM, DEFECT IN" EXACT []
xref: MESH:C565127
xref: RDO:0013854
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9007704
name: Physical Microtrauma
def: "Small injuries caused by external force applied to the body including bones, muscles, nerves and tendons." [MESH:D000070617]
synonym: "Physical Micro Trauma" EXACT []
synonym: "Physical Micro Traumas" EXACT []
synonym: "Physical Microtraumas" EXACT []
xref: MESH:D000070617
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9007705
name: Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration
alt_id: MIM:602685
synonym: "MRST" EXACT []
xref: MESH:C566429
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9007428 ! Muscle Spasticity

[Term]
id: DOID:9007706
name: MASS Syndrome
alt_id: MIM:604308
synonym: "Mass phenotype" EXACT []
synonym: "OCTD" EXACT []
synonym: "Overlap connective tissue disease" EXACT []
xref: MESH:C536030
is_a: DOID:11830 ! myopia
is_a: DOID:225 ! syndrome
is_a: DOID:37 ! skin disease
is_a: DOID:988 ! mitral valve prolapse

[Term]
id: DOID:9007707
name: BCG and Salmonella Infection, Disseminated
xref: MESH:C565908
xref: RDO:0014422
is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections

[Term]
id: DOID:9007708
name: Glaucoma 1, Open Angle, E
xref: MESH:C564233
is_a: DOID:1070 ! primary open angle glaucoma

[Term]
id: DOID:9007709
name: Membranoproliferative Glomerulonephritis, X-Linked
alt_id: MIM:305800
synonym: "Mesangiocapillary Glomerulonephritis, X-Linked" EXACT []
xref: MESH:C564423
xref: RDO:0013392
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:2920 ! membranoproliferative glomerulonephritis

[Term]
id: DOID:9007710
name: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE
def: "A severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. (OMIM)" []
xref: MIM:617301
is_a: DOID:9268 ! glycine encephalopathy

[Term]
id: DOID:9007711
name: ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
synonym: "CLDN1-RELATED CONDITION" EXACT []
synonym: "Ichthyosis-Sclerosing Cholangitis Syndrome" EXACT []
synonym: "ILVASC" EXACT []
synonym: "Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome" EXACT []
synonym: "Nisch syndrome" EXACT []
xref: MESH:C564365
xref: MIM:607626
xref: MONDO:0011874
is_a: DOID:14268 ! sclerosing cholangitis
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:9500 ! leukocyte disease
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9007712
name: Adenosine Monophosphate Deaminase Deficiency
xref: MESH:C538234
is_a: DOID:653 ! purine-pyrimidine metabolic disorder

[Term]
id: DOID:9007713
name: Hypospadias 3, Autosomal
alt_id: MIM:146450
synonym: "HYSP3" EXACT []
xref: MESH:C567191
is_a: DOID:10892 ! hypospadias

[Term]
id: DOID:9007714
name: Mental and Growth Retardation with Amblyopia
alt_id: MIM:156190
xref: MESH:C563591
is_a: DOID:10376 ! amblyopia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9007715
name: Endometrial Neoplasms
alt_id: RDO:0007008
def: "Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." [MESH:D016889]
synonym: "Endometrial Neoplasm" EXACT []
xref: EFO:0004230
xref: MESH:D016889
is_a: DOID:1005 ! endometrial disease
is_a: DOID:9004268 ! Uterine Neoplasms

[Term]
id: DOID:9007717
name: Chromosome 8p Deletion Syndrome (partial)
synonym: "8p deletion syndrome (partial)" EXACT []
synonym: "8p- syndrome (partial)" EXACT []
synonym: "Chromosome 8, monosomy 8p2" EXACT []
synonym: "Chromosome 8, monosomy 8p21-pter" EXACT []
synonym: "Chromosome 8, partial deletion (short arm)" EXACT []
synonym: "Chromosome 8, partial monosomy 8p2" EXACT []
xref: MESH:C537826
xref: RDO:0003730
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9007718
name: Platelet-Type Bleeding Disorder 22
synonym: "BDPLT22" EXACT []
xref: MIM:618462
is_a: DOID:2218 ! blood platelet disease
created_by: mtutaj
creation_date: 2019-06-25T13:52:24Z

[Term]
id: DOID:9007719
name: Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
synonym: "DMJDS2" EXACT []
synonym: "spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia" EXACT []
xref: MIM:618646
is_a: DOID:9002171 ! Diencephalic-Mesencephalic Junction Dysplasia Syndromes
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
created_by: mtutaj
creation_date: 2019-10-31T12:39:56Z

[Term]
id: DOID:9007721
name: Renal Hypouricemia, 2
alt_id: MIM:612076
synonym: "GOUT2" NARROW []
synonym: "GOUT SUSCEPTIBILITY 2" RELATED []
synonym: "RHUC2" EXACT []
synonym: "SLC2A9-RELATED CONDITION" EXACT []
xref: MESH:C567426
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:9007722
name: Myoclonus
def: "Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3)." [MESH:D009207]
synonym: "action myoclonus" EXACT []
synonym: "eyelid myoclonus" EXACT []
synonym: "Intention Myoclonus" EXACT []
synonym: "lower extremity myoclonus" EXACT []
synonym: "Myoclonic Jerk" EXACT []
synonym: "Myoclonic Jerking" EXACT []
synonym: "Myoclonic Jerks" EXACT []
synonym: "Myoclonus Simplex" EXACT []
synonym: "Nocturnal Myoclonus" EXACT []
synonym: "Oculopalatal Myoclonus" EXACT []
synonym: "Palatal Myoclonus" EXACT []
synonym: "Polymyoclonus" EXACT []
synonym: "segmental myoclonus" EXACT []
synonym: "sleep myoclonus" EXACT []
synonym: "upper extremity myoclonus" EXACT []
xref: MESH:D009207
xref: MIM:PS614937
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9007724
name: Hemorrhagic Septicemia
def: "Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." [MESH:D006483]
synonym: "Haemorrhagic Bacteremia" EXACT []
synonym: "Haemorrhagic Septicaemia" EXACT []
synonym: "Haemorrhagic Septicemia" EXACT []
synonym: "Hemorrhagic Bacteremia" EXACT []
synonym: "Hemorrhagic Septicaemia" EXACT []
synonym: "Pasteurella hemorrhagic septicemia" EXACT []
xref: EFO:1001091
xref: MESH:D006483
is_a: DOID:11055 ! pasteurellosis
is_a: DOID:9005036 ! Bacteremia

[Term]
id: DOID:9007725
name: Chromosome 11q Trisomy
synonym: "Duplication 11q" EXACT []
synonym: "Trisomy 11q" EXACT []
xref: MESH:C538297
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9007727
name: Alcohol-Induced Disorders, Nervous System
def: "Acute and chronic neurologic disorders associated with the various neurologic effects of ETHANOL. Primary sites of injury include the brain and peripheral nerves." [MESH:D020268]
synonym: "Alcohol Abuse, Nervous System" EXACT []
synonym: "Ethanol Induced Nervous System Disorders" EXACT []
synonym: "Ethyl Alcohol Abuse Neurologic Syndromes" EXACT []
xref: MESH:D020268
xref: RDO:0004793
is_a: DOID:3602 ! toxic encephalopathy
is_a: DOID:9004354 ! Alcohol-Related Disorders

[Term]
id: DOID:9007728
name: Heavy Chain Disease Proteins, Human
xref: MESH:C032598
is_a: DOID:0060125 ! heavy chain disease

[Term]
id: DOID:9007729
name: Multiple Basal Cell Carcinoma
alt_id: RDO:0003533
xref: MESH:C537656
is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome
is_a: DOID:2513 ! basal cell carcinoma

[Term]
id: DOID:9007730
name: Burns
def: "Injuries to tissues caused by contact with heat, steam, chemicals (BURNS, CHEMICAL), electricity (BURNS, ELECTRIC), or the like." [MESH:D002056]
synonym: "Burn" EXACT []
synonym: "thermal burn" NARROW []
xref: EFO:0009516
xref: EFO:0020910
xref: MESH:D002056
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9007731
name: Medial Tibial Stress Syndrome
def: "SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity." [MESH:D058923]
synonym: "Medial Tibial Stress Syndrome (MTSS)" EXACT []
synonym: "Shin Splint" EXACT []
synonym: "Shin Splints" EXACT []
xref: EFO:1001367
xref: MESH:D058923
is_a: DOID:0080000 ! muscular disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008911 ! Leg Injuries

[Term]
id: DOID:9007732
name: Squalene Synthase Deficiency
def: "An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids." [MIM:618156]
synonym: "FDFT1-RELATED CONDITION" EXACT []
synonym: "NEURODEVELOPMENTAL DISORDER WITH LOW CHOLESTEROL AND ABNORMAL URINE ORGANIC ACIDS" EXACT []
synonym: "SQSD" EXACT []
xref: EFO:0010167
xref: MIM:618156
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2019-06-21T11:24:35Z

[Term]
id: DOID:9007733
name: Familial Renal Hypouricemia due to Tubular Hypersecretion
alt_id: MIM:307830
synonym: "FAMILIAL RENAL HYPOURICEMIA" EXACT []
xref: MESH:C564405
is_a: DOID:447 ! renal tubular transport disease

[Term]
id: DOID:9007734
name: 1q24 Deletion Syndrome
synonym: "1Q24-Q25 MICRODELETION SYNDROME" EXACT []
synonym: "1Q24Q25 MICRODELETION SYNDROME" EXACT []
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2019-06-24T09:54:06Z

[Term]
id: DOID:9007735
name: Antibody Deficiency due to Defect in CD19
xref: MESH:C566275
xref: RDO:0014673
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9007736
name: Vertigo
def: "An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (EAR, INNER); VESTIBULAR NERVE; BRAINSTEM; or CEREBRAL CORTEX. Lesions in the TEMPORAL LOBE and PARIETAL LOBE may be associated with FOCAL SEIZURES that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)" [MESH:D014717]
synonym: "Constant Vertigo" EXACT []
synonym: "Essential Vertigo" EXACT []
synonym: "Intermittant Vertigo" EXACT []
synonym: "Paroxysmal Vertigo" EXACT []
synonym: "Positional Vertigo" EXACT []
synonym: "Spinning Sensation" EXACT []
synonym: "Subjective Vertigo" EXACT []
synonym: "vertigos" EXACT []
xref: MESH:D014717
is_a: DOID:3426 ! vestibular disease
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9007737
name: Parkinson's Disease 11
alt_id: RDO:0009130
synonym: "GIGYF2-RELATED CONDITION" EXACT []
synonym: "PARK11" EXACT []
synonym: "Parkinson's Disease 11, Autosomal Dominant, Susceptibility To" RELATED []
synonym: "Parkinson Disease 11" EXACT []
synonym: "Parkinson Disease 11, Autosomal Dominant, Susceptibility To" RELATED []
xref: MESH:C564345
xref: MIM:607688
xref: RDO:0013345
is_a: DOID:14330 ! Parkinson's disease

[Term]
id: DOID:9007738
name: Broca Aphasia
def: "An aphasia characterized by impairment of expressive LANGUAGE (speech, writing, signs) and relative preservation of receptive language abilities (i.e., comprehension). This condition is caused by lesions of the motor association cortex in the FRONTAL LOBE (BROCA AREA and adjacent cortical and white matter regions)." [MESH:D001039]
synonym: "Agrammatic Broca's Aphasia" EXACT []
synonym: "Agrammatic Broca's Aphasias" EXACT []
synonym: "Agrammatic Broca Aphasia" EXACT []
synonym: "Agrammatic Broca Aphasias" EXACT []
synonym: "Agrammatic Brocas Aphasia" EXACT []
synonym: "Agrammatism" EXACT []
synonym: "Anterior Aphasia" EXACT []
synonym: "Anterior Aphasias" EXACT []
synonym: "Ataxic Aphasia" EXACT []
synonym: "Ataxic Aphasias" EXACT []
synonym: "Broca's Dysphasia" EXACT []
synonym: "Broca Aphasias" EXACT []
synonym: "Broca Dysphasia" EXACT []
synonym: "Dysphasia, Brocas" EXACT []
synonym: "Expressive Aphasia" EXACT []
synonym: "Frontocortical Aphasia" EXACT []
synonym: "Frontocortical Aphasias" EXACT []
synonym: "Motor Aphasia" EXACT []
synonym: "Nonfluent Aphasia" EXACT []
synonym: "Verbal Aphasia Syndrome" EXACT []
synonym: "Verbal Aphasia Syndromes" EXACT []
xref: MESH:D001039
is_a: DOID:0060046 ! aphasia

[Term]
id: DOID:9007739
name: Craniofacial Dysostosis with Diaphyseal Hyperplasia
alt_id: MIM:122900
synonym: "Osteosclerosis, Stanescu Type" EXACT []
xref: MESH:C562974
is_a: DOID:2339 ! Crouzon syndrome
is_a: DOID:4254 ! osteosclerosis

[Term]
id: DOID:9007740
name: Familial Hypophosphatemia
def: "An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME." [MESH:D007015]
synonym: "Familial Hypophosphatemias" EXACT []
synonym: "Hyperphosphaturia" EXACT []
synonym: "Phosphate Diabetes" EXACT []
synonym: "Phosphaturia" EXACT []
xref: MESH:D007015
is_a: DOID:0050336 ! hypophosphatemia
is_a: DOID:447 ! renal tubular transport disease
is_a: DOID:896 ! metal metabolism disorder

[Term]
id: DOID:9007741
name: Early-Onset Glaucoma
synonym: "Hereditary Glaucoma" EXACT []
xref: MESH:C580055
is_a: DOID:1686 ! glaucoma

[Term]
id: DOID:9007742
name: B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations
alt_id: MIM:609296
synonym: "BILU Syndrome" EXACT []
synonym: "Hoffman Syndrome" EXACT []
synonym: "TOP2B-RELATED CONDITION" EXACT []
xref: MESH:C563745
is_a: DOID:2115 ! B cell deficiency
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9007743
name: Generalized Thyroid Hormone Resistance, Autosomal Dominant
alt_id: MIM:188570
synonym: "GRTHD" EXACT []
synonym: "Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones" EXACT []
xref: MESH:C567934
is_a: DOID:11633 ! thyroid hormone resistance syndrome

[Term]
id: DOID:9007744
name: Mandibuloacral Dysplasia Progeroid Syndrome
synonym: "MDPS" EXACT []
synonym: "PROGEROID MANDIBULOACRAL DYSPLASIA" EXACT []
xref: MIM:619127
is_a: DOID:3911 ! progeria
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2020-12-18T11:36:32Z

[Term]
id: DOID:9007745
name: Major Affective Disorder 5
alt_id: MIM:611535
synonym: "MAFD5" EXACT []
xref: MESH:C567074
is_a: DOID:3312 ! bipolar disorder

[Term]
id: DOID:9007746
name: Glaucoma 1, Open Angle, O
alt_id: MIM:613100
synonym: "Glc1o" EXACT []
synonym: "Primary Open Angle Glaucoma-1O" EXACT []
xref: MESH:C567753
is_a: DOID:1070 ! primary open angle glaucoma

[Term]
id: DOID:9007747
name: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
alt_id: MIM:611105
synonym: "LBSL" EXACT []
synonym: "LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION" EXACT []
synonym: "Mitochondrial Aspartyl-tRNA Synthetase Deficiency" EXACT []
xref: MESH:C567009
xref: NCI:C188991
xref: RDO:0015198
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9002704 ! Leukoencephalopathies

[Term]
id: DOID:9007748
name: Retinal Neovascularization
def: "Formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina." [MESH:D015861]
xref: MESH:D015861
xref: RDO:0006930
is_a: DOID:5679 ! retinal disease
is_a: DOID:9002493 ! Ocular Neovascularization
is_a: DOID:9003204 ! Neovascularization, Pathologic

[Term]
id: DOID:9007749
name: Ellis Yale Winter Syndrome
xref: MESH:C536205
is_a: DOID:10907 ! microcephaly
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007750
name: Lissencephaly Type III and Bone Dysplasia
alt_id: MIM:601160
xref: MESH:C563383
is_a: DOID:0080006 ! bone development disease
is_a: DOID:0112232 ! lissencephaly 3

[Term]
id: DOID:9007751
name: Hypocholesterolemia
def: "A decreased concentration of cholesterol in the blood." []
synonym: "Hypocholesteremia" EXACT []
xref: RDO:9000334
is_a: DOID:9003370 ! Dyslipidemias

[Term]
id: DOID:9007752
name: Chronic Relapsing Experimental Autoimmune Encephalomyelitis
def: "A chronic relapsing-remitting version of EAE, an experimental animal model for central nervous system demyelinating disease in which demyelination is extensive." []
synonym: "chronic relapsing EAE" EXACT []
synonym: "chronic relapsing experimental allergic encephalomyelitis" EXACT []
synonym: "chronic relapsing-remitting EAE" EXACT []
synonym: "CR-EAE" EXACT []
synonym: "CREAE" EXACT []
xref: RDO:9000096
is_a: DOID:9002763 ! Experimental Autoimmune Encephalomyelitis

[Term]
id: DOID:9007753
name: Congenital Heart Defects, Multiple Types, 2
synonym: "CHTD2" EXACT []
synonym: "Congenital Heart Disease, Multiple Types, 2" EXACT []
synonym: "TAB2-RELATED CONDITION" EXACT []
xref: MIM:614980
is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types

[Term]
id: DOID:9007754
name: Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome
alt_id: MIM:604315
xref: MESH:C565796
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1342 ! congenital hypoplastic anemia
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007755
name: Intestinal Reperfusion Injury
def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the intestinal tract, including swelling; hemorrhage; necrosis; and damage from free radicals." []
synonym: "intestinal ischemia-reperfusion injury" EXACT []
synonym: "mesenteric ischemia-reperfusion injury" RELATED []
synonym: "mesenteric reperfusion injury" RELATED []
synonym: "small intestine reperfusion injury" RELATED []
is_a: DOID:9004009 ! Reperfusion Injury
is_a: DOID:9004663 ! Intestinal Ischemia

[Term]
id: DOID:9007756
name: Partial Duplication 15q Syndrome
synonym: "Chromosome 15, distal trisomy 15q" EXACT []
synonym: "Chromosome 15, Trisomy 15q2" EXACT []
synonym: "Distal Duplication 15q" EXACT []
xref: MESH:C538036
xref: RDO:0003970
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9007757
name: Catatrichy
alt_id: MIM:116850
synonym: "Forelock" EXACT []
xref: MESH:C535346
is_a: DOID:421 ! hair disease

[Term]
id: DOID:9007758
name: Bartter Syndrome Type 3, with Hypocalciuria
xref: MESH:C564578
is_a: DOID:0110144 ! Bartter disease type 3

[Term]
id: DOID:9007759
name: Male Sterility due to Y-Chromosome Deletions
synonym: "Partial deletion of chromosome Y" EXACT []
synonym: "Partial deletion of the long arm of the Y chromosome" EXACT []
synonym: "Partial deletion of Y" EXACT []
synonym: "Partial deletion of Y chromosome short arm" EXACT []
synonym: "Y chromosome deletions" EXACT []
synonym: "Y chromosome microdeletions" EXACT []
xref: MESH:C536297
xref: RDO:0001823
is_a: DOID:12336 ! male infertility
is_a: DOID:9003262 ! Sex Chromosome Disorders of Sex Development
is_a: DOID:9003307 ! Sex Chromosome Aberrations
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9007762
name: Fingerprint Body Myopathy
alt_id: MIM:305550
xref: MESH:C564425
is_a: DOID:0080000 ! muscular disease

[Term]
id: DOID:9007763
name: Flushing
def: "A transient reddening of the face that may be due to fever, certain drugs, exertion, stress, or a disease process." [MESH:D005483]
synonym: "Flushings" EXACT []
xref: MESH:D005483
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9007764
name: Penoscrotal Transposition
synonym: "Congenital transposition of the penis" EXACT []
synonym: "Prepenile scrotum" EXACT []
xref: MESH:C536650
is_a: DOID:732 ! urethral disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007765
name: Membranous Cranial Ossification, Delayed
alt_id: MIM:155980
xref: MESH:C563592
is_a: DOID:0080006 ! bone development disease

[Term]
id: DOID:9007766
name: Periodontal Abscess
def: "Localized circumscribed purulent area of inflammation in the periodontal tissue. It is a derivative of marginal periodontitis and commonly associated with suprabony and infrabony pockets and interradicular involvements, in contrast to periapical abscess which is attributable to pulp necrosis." [MESH:D010508]
synonym: "Periodontal Abscesses" EXACT []
xref: MESH:D010508
is_a: DOID:824 ! periodontitis
is_a: DOID:9000325 ! Abscess

[Term]
id: DOID:9007767
name: Maxillofacial Dysostosis
alt_id: MIM:155000
xref: MESH:C563599
is_a: DOID:2339 ! Crouzon syndrome
is_a: DOID:9004563 ! Maxillofacial Abnormalities
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:9007768
name: Colonic Diverticulosis
def: "A pathological condition characterized by the presence of a number of COLONIC DIVERTICULA in the COLON. Its pathogenesis is multifactorial, including colon aging, motor dysfunction, increases in intraluminal pressure, and lack of dietary fibers." [MESH:D043963]
synonym: "diverticular disease" EXACT []
xref: EFO:0009959
xref: MESH:D043963
is_a: DOID:5353 ! colonic disease

[Term]
id: DOID:9007769
name: Pseudarthrosis
def: "A pathologic entity characterized by deossification of a weight-bearing long bone, followed by bending and pathologic fracture, with inability to form normal BONY CALLUS leading to existence of the 'false joint' that gives the condition its name. (Dorland, 27th ed)" [MESH:D011542]
synonym: "Pseudarthroses" EXACT []
synonym: "Pseudoarthroses" EXACT []
synonym: "Pseudoarthrosis" EXACT []
xref: MESH:D011542
is_a: DOID:9007932 ! Ununited Fractures

[Term]
id: DOID:9007770
name: Pancreatic Agenesis 2
synonym: "PAGEN2" EXACT []
synonym: "PANCREATIC HYPOPLASIA, CONGENITAL 2" EXACT []
xref: MIM:615935
is_a: DOID:0050877 ! pancreatic agenesis
created_by: slaulede
creation_date: 2020-02-14T15:08:53Z

[Term]
id: DOID:9007771
name: Gallbladder Disease 3
alt_id: MIM:609919
synonym: "GBD3" EXACT []
xref: MESH:C563686
is_a: DOID:0060262 ! gallbladder disease

[Term]
id: DOID:9007772
name: Abdominal Obesity
alt_id: RDO:0007735
def: "A condition of having excess fat in the abdomen. Abdominal obesity is typically defined as waist circumferences of 40 inches or more in men and 35 inches or more in women. Abdominal obesity raises the risk of developing disorders, such as diabetes, hypertension and METABOLIC SYNDROME X." [MESH:D056128]
synonym: "Abdominal Obesities" EXACT []
synonym: "Central Obesities" EXACT []
synonym: "Central Obesity" EXACT []
synonym: "Visceral Obesities" EXACT []
synonym: "Visceral Obesity" EXACT []
xref: MESH:D056128
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9007773
name: Tick Toxicoses
def: "Toxicoses caused by toxic substances secreted by the salivary glands of ticks; include tick paralysis (neurotropic toxin), sweating sickness (dermotropic toxin), and Rhipicephalus appendiculatus toxicosis (leukotropic toxin)." [MESH:D013986]
xref: MESH:D013986
is_a: DOID:9007636 ! Tick Bites

[Term]
id: DOID:9007774
name: Birk-Landau-Perez Syndrome
synonym: "BILAPES" EXACT []
xref: MIM:617595
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: rgd
creation_date: 2017-11-30T00:00:00Z

[Term]
id: DOID:9007775
name: Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth
alt_id: MIM:608811
xref: MESH:C537355
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9007776
name: Hemianopsia
def: "Partial or complete loss of vision in one half of the visual field(s) of one or both eyes. Subtypes include altitudinal hemianopsia, characterized by a visual defect above or below the horizontal meridian of the visual field. Homonymous hemianopsia refers to a visual defect that affects both eyes equally, and occurs either to the left or right of the midline of the visual field. Binasal hemianopsia consists of loss of vision in the nasal hemifields of both eyes. Bitemporal hemianopsia is the bilateral loss of vision in the temporal fields. Quadrantanopsia refers to loss of vision in one quarter of the visual field in one or both eyes." [MESH:D006423]
synonym: "Altidudinal Hemianopia" EXACT []
synonym: "Altidudinal Hemianopias" EXACT []
synonym: "Altitudinal Hemianopsia" EXACT []
synonym: "Altitudinal Hemianopsias" EXACT []
synonym: "Binasal Hemianopia" EXACT []
synonym: "Binasal Hemianopias" EXACT []
synonym: "Binasal Hemianopsia" EXACT []
synonym: "Binasal Hemianopsias" EXACT []
synonym: "Bitemporal Hemianopia" EXACT []
synonym: "Bitemporal Hemianopias" EXACT []
synonym: "Bitemporal Hemianopsia" EXACT []
synonym: "Bitemporal Hemianopsias" EXACT []
synonym: "Hemianopia" EXACT []
synonym: "Hemianopias" EXACT []
synonym: "Hemianopsias" EXACT []
synonym: "Homonymous Hemianopia" EXACT []
synonym: "Homonymous Hemianopias" EXACT []
synonym: "Homonymous Hemianopsia" EXACT []
synonym: "Homonymous Hemianopsias" EXACT []
synonym: "Quadrantanopia" EXACT []
synonym: "Quadrantanopias" EXACT []
synonym: "Quadrantanopsia" EXACT []
synonym: "Quadrantanopsias" EXACT []
xref: MESH:D006423
is_a: DOID:1432 ! blindness
is_a: DOID:9000343 ! Vision Disorders

[Term]
id: DOID:9007777
name: Acute Recurrent Myoglobinuria, Autosomal Recessive
alt_id: MIM:268200
synonym: "acute recurrent myoglobinuria" EXACT []
synonym: "acute recurrent rhabdomyolysis" EXACT []
synonym: "familial paroxysmal paralytic myoglobinuria" EXACT []
synonym: "recurrent myoglobinuria, autosomal recessive" EXACT []
xref: MESH:C564832
is_a: DOID:0080108 ! myoglobinuria

[Term]
id: DOID:9007778
name: Type 2 Diabetes Mellitus 4
alt_id: MIM:608036
synonym: "NIDDM4" EXACT []
synonym: "noninsulin-dependent diabetes mellitus 4" EXACT []
synonym: "noninsulin-dependent diabetes mellitus type 4" EXACT []
synonym: "T2D4" EXACT []
xref: MESH:C564299
is_a: DOID:9352 ! type 2 diabetes mellitus

[Term]
id: DOID:9007779
name: Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2
def: "An autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility). (OMIM)" []
synonym: "OIEDS2" EXACT []
synonym: "OIEDS syndrome 2" EXACT []
xref: MIM:619120
is_a: DOID:9008741 ! Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome
created_by: mtutaj
creation_date: 2020-12-11T14:44:40Z

[Term]
id: DOID:9007780
name: Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum
xref: MESH:C559045
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9002395 ! Hypothermia

[Term]
id: DOID:9007781
name: Retinoschisis, Autosomal Dominant
alt_id: MIM:180270
xref: MESH:C000598640
is_a: DOID:8465 ! retinoschisis

[Term]
id: DOID:9007782
name: Chromosome 9, Trisomy 9p
xref: MESH:C538029
xref: RDO:0003963
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9007783
name: Vascular Depression
def: "This involves the comorbidity of depression and the association of vascular disease." []
xref: RDO:9000348
is_a: DOID:1596 ! depressive disorder
created_by: rgd
creation_date: 2016-06-06T00:00:00Z

[Term]
id: DOID:9007784
name: Telencephalic Leukoencephalopathy
xref: MESH:C536954
is_a: DOID:9002704 ! Leukoencephalopathies

[Term]
id: DOID:9007786
name: Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities
xref: MESH:C565667
is_a: DOID:10907 ! microcephaly
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9004203 ! Chromosome Breakage

[Term]
id: DOID:9007787
name: Carcinoid Tumor
def: "A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182)" [MESH:D002276]
synonym: "Argentaffinoma" EXACT []
synonym: "argentaffinomas" EXACT []
synonym: "Atypical Carcinoid Tumor" NARROW []
synonym: "Carcinoid" EXACT []
synonym: "Carcinoids" EXACT []
synonym: "Carcinoid Tumors" EXACT []
synonym: "Goblet Cell Carcinoid" EXACT []
synonym: "goblet cell carcinoids" EXACT []
xref: EFO:0004243
xref: EFO:1000097
xref: MESH:D002276
is_a: DOID:169 ! neuroendocrine tumor
is_a: DOID:299 ! adenocarcinoma

[Term]
id: DOID:9007788
name: Cardiac-Urogenital Syndrome
synonym: "CUGS" EXACT []
synonym: "MYRF-RELATED CONDITION" BROAD []
xref: EFO:0010645
xref: MIM:618280
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001611 ! Urogenital Abnormalities
created_by: mtutaj
creation_date: 2019-04-30T13:23:45Z

[Term]
id: DOID:9007789
name: Congenital Communicating Hydrocephalus 1
synonym: "congenital hydrocephalus 4" EXACT []
synonym: "HYC4" EXACT []
synonym: "HYDCC1" EXACT []
xref: MIM:618667
is_a: DOID:1573 ! communicating hydrocephalus
created_by: mtutaj
creation_date: 2019-12-30T09:25:15Z

[Term]
id: DOID:9007790
name: Winter Shortland Temple Syndrome
alt_id: MIM:601707
synonym: "asymmetric craniofacial malformations with polysyndactyly and abnormal skin and gut development" EXACT []
synonym: "CRJS" EXACT []
synonym: "Curry Jones syndrome" EXACT []
xref: MESH:C536735
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9007791
name: MacKay Shek Carr Syndrome
alt_id: MIM:267760
synonym: "retinal degeneration, nanophthalmos, glaucoma" EXACT []
synonym: "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma" EXACT []
xref: MESH:C538364
is_a: DOID:1686 ! glaucoma
is_a: DOID:225 ! syndrome
is_a: DOID:8466 ! retinal degeneration

[Term]
id: DOID:9007792
name: Spastic paraplegia 30, autosomal recessive
def: "A neurologic disorder characterized by onset of slowly progressive spastic paraplegia with variable age of onset, but usually in the first or second decades of life. Caused by homozygous mutation in the KIF1A gene on chromosome 2q37." [MIM:620607]
synonym: "Spastic paraplegia 30B, autosomal recessive" EXACT []
synonym: "SPG30B" EXACT []
xref: MESH:C563677
xref: MIM:620607
is_a: DOID:0110781 ! hereditary spastic paraplegia 30
created_by: tutajm
creation_date: 2024-07-17T17:00:05Z

[Term]
id: DOID:9007794
name: Lower Extremity Deformities, Congenital
def: "Congenital structural abnormalities of the LOWER EXTREMITY." [MESH:D038061]
synonym: "Lower Limb Deformities, Congenital" EXACT []
xref: MESH:D038061
xref: RDO:0000381
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9007795
name: Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis
alt_id: MIM:247800
xref: MESH:C565427
is_a: DOID:2921 ! glomerulonephritis
is_a: DOID:718 ! autoimmune hemolytic anemia
is_a: DOID:9005358 ! Hypergammaglobulinemia

[Term]
id: DOID:9007797
name: Meralgia Paresthetica
synonym: "Bernhardt-Roth syndrome" EXACT []
synonym: "Lateral femoral cutaneous nerve entrapment" EXACT []
xref: MESH:C537458
xref: RDO:0003302
is_a: DOID:573 ! nerve compression syndrome

[Term]
id: DOID:9007798
name: Preaxial Polydactyly II
synonym: "POLYDACTYLY OF TRIPHALANGEAL THUMB" EXACT []
synonym: "PPD2" EXACT []
synonym: "TPT" EXACT []
synonym: "TPT-PS syndrome" EXACT []
synonym: "triphalangeal thumb" BROAD []
synonym: "triphalangeal thumb with polydactyly" EXACT []
xref: MIM:174500
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9005329 ! Preaxial Polydactyly

[Term]
id: DOID:9007800
name: Crane-Heise Syndrome
alt_id: MIM:218090
synonym: "Cleft lip-palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus" EXACT []
xref: MESH:C536452
is_a: DOID:11836 ! clubfoot
is_a: DOID:225 ! syndrome
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9007801
name: Diseases of the Aged
def: "The range of diseases that occur mostly in the elderly." []
subset: RGD_JBrowse_slim
synonym: "aging-associated diseases" EXACT []
synonym: "diseases of the elderly" EXACT []
is_a: DOID:4 ! disease
created_by: rgd
creation_date: 2015-06-30T00:00:00Z

[Term]
id: DOID:9007803
name: Endocrine Gland Neoplasms
alt_id: RDO:0004757
def: "Tumors or cancer of the ENDOCRINE GLANDS." [MESH:D004701]
synonym: "Carcinoma of Endocrine Gland" EXACT []
synonym: "Endocrine Cancer" EXACT []
synonym: "Endocrine Cancers" EXACT []
synonym: "Endocrine Gland Carcinoma" EXACT []
synonym: "Endocrine Gland Neoplasm" EXACT []
xref: EFO:0003769
xref: MESH:D004701
is_a: DOID:28 ! endocrine system disease
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:9007804
name: Diastasis, Bone
def: "Abnormal separation of bones, often from a LIGAMENT." [MESH:D000070631]
synonym: "Bone Diastases" EXACT []
xref: MESH:D000070631
xref: RDO:0016090
is_a: DOID:9003279 ! Joint Dislocations

[Term]
id: DOID:9007805
name: Chromosome 1, Monosomy 1p22 p13
synonym: "Deletion 1p22 p13" EXACT []
synonym: "Monosomy 1p22 p13" EXACT []
xref: MESH:C535592
xref: RDO:0000810
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9007806
name: Drug Hypersensitivity Syndrome
def: "Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s)." [MESH:D063926]
synonym: "DRESS Syndrome" EXACT []
synonym: "DRESS Syndromes" EXACT []
synonym: "Drug Hypersensitivity Syndromes" EXACT []
synonym: "Drug Reaction with Eosinophilia and Systemic Symptoms" EXACT []
synonym: "Drug Reaction with Eosinophilia and Systemic Symptoms Syndrome" EXACT []
xref: EFO:1002004
xref: MESH:D063926
xref: RDO:0015829
is_a: DOID:225 ! syndrome
is_a: DOID:9005236 ! Drug Eruptions

[Term]
id: DOID:9007807
name: Epidermolysis Bullosa with Diaphragmatic Hernia
alt_id: MIM:226735
xref: MESH:C565588
is_a: DOID:2730 ! epidermolysis bullosa
is_a: DOID:3827 ! congenital diaphragmatic hernia

[Term]
id: DOID:9007808
name: Intrathoracic Gastric Volvulus
alt_id: MIM:137210
xref: MESH:C564989
is_a: DOID:12642 ! hiatus hernia
is_a: DOID:9005142 ! Stomach Volvulus

[Term]
id: DOID:9007809
name: Neoplasm Seeding
def: "The local implantation of tumor cells by contamination of instruments and surgical equipment during and after surgical resection, resulting in local growth of the cells and tumor formation." [MESH:D009366]
xref: MESH:D009366
xref: RDO:0006195
is_a: DOID:9000965 ! Neoplasm Metastasis

[Term]
id: DOID:9007810
name: Familial Osteodysplasia, Anderson Type
alt_id: MIM:259250
xref: MESH:C564923
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9007811
name: Familial Cirrhosis with Deposition of Abnormal Glycogen
alt_id: RDO:0003086
xref: MESH:C537275
is_a: DOID:2750 ! glycogen storage disease IV

[Term]
id: DOID:9007812
name: human herpesvirus 8 infection
def: "This is an infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma." [NCI:C39291]
synonym: "HHV-8 Infection" EXACT []
synonym: "HHV8 Infection" EXACT []
synonym: "Human Herpesvirus-8 Infection" EXACT []
synonym: "Kaposi Sarcoma-Associated Herpes Virus infection" EXACT []
xref: EFO:0002612
is_a: DOID:9002834 ! Herpesviridae Infections
created_by: slaulede
creation_date: 2023-02-09T16:14:11Z

[Term]
id: DOID:9007813
name: Platypnea Orthodeoxia Syndrome
def: "Orthostatic dyspnea and fall of oxygen blood saturation when standing up which regress by assuming lying position." []
synonym: "Orthodeoxia" EXACT []
synonym: "Orthodeoxias" EXACT []
xref: MESH:D000092129
is_a: DOID:9000590 ! Dyspnea
is_a: DOID:9002669 ! Hypoxia
created_by: mtutaj
creation_date: 2022-12-12T14:08:31Z

[Term]
id: DOID:9007814
name: Familial Atrial Myxoma
alt_id: MIM:255960
synonym: "Intracardiac myxoma" EXACT []
xref: MESH:C538262
is_a: DOID:9003253 ! Myxoma

[Term]
id: DOID:9007815
name: Major Affective Disorder 9
alt_id: MIM:612372
alt_id: RDO:0015589
synonym: "MAFD9" EXACT []
xref: MESH:C567531
is_a: DOID:3312 ! bipolar disorder

[Term]
id: DOID:9007816
name: Central Cloudy Dystrophy of Francois
alt_id: MIM:217600
def: "A very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." [ORPHA:98972 "PMC2866169"]
synonym: "CCDF" EXACT []
synonym: "Corneal Dystrophy, Central Type" EXACT []
xref: MESH:C563262
is_a: DOID:0060442 ! stromal dystrophy

[Term]
id: DOID:9007817
name: Macroglossia
def: "The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)" [MESH:D008260]
synonym: "Macroglossias" EXACT []
xref: MESH:D008260
xref: NCI:C84832
is_a: DOID:10944 ! tongue disease

[Term]
id: DOID:9007818
name: Distal Renal Tubular Acidosis 4 with Hemolytic Anemia
alt_id: MIM:611590
synonym: "distal renal tubular acidosis with normal red cell morphology" NARROW []
synonym: "distal RTA, autosomal recessive, with hemolytic anemia" RELATED []
synonym: "DRTA4" EXACT []
xref: MESH:C566910
is_a: DOID:583 ! hemolytic anemia
is_a: DOID:9007406 ! Distal Renal Tubular Acidosis

[Term]
id: DOID:9007819
name: Endocrine Bone Diseases
alt_id: RDO:0004719
def: "Diseases of the bones related to hyperfunction or hypofunction of the endocrine glands." [MESH:D001849]
synonym: "Endocrine Bone Disease" EXACT []
xref: MESH:D001849
is_a: DOID:0080001 ! bone disease
is_a: DOID:28 ! endocrine system disease

[Term]
id: DOID:9007820
name: Sudden Death
alt_id: RDO:0001697
def: "The abrupt cessation of all vital bodily functions, manifested by the permanent loss of total cerebral, respiratory, and cardiovascular functions." [MESH:D003645]
synonym: "Sudden unexplained death" NARROW []
xref: MESH:D003645
is_a: DOID:9000543 ! Death

[Term]
id: DOID:9007821
name: Glucagonoma
def: "An almost always malignant GLUCAGON-secreting tumor derived from the PANCREATIC ALPHA CELLS. It is characterized by a distinctive migratory ERYTHEMA; WEIGHT LOSS; STOMATITIS; GLOSSITIS; DIABETES MELLITUS; hypoaminoacidemia; and normochromic normocytic ANEMIA." [MESH:D005935]
synonym: "alpha-Cell Adenoma" EXACT []
synonym: "alpha-Cell Adenomas" EXACT []
synonym: "alpha Cell Tumor" EXACT []
synonym: "alpha-Cell Tumors" EXACT []
synonym: "Glucagonomas" EXACT []
synonym: "Glucagonoma Syndrome" EXACT []
synonym: "Glucagonoma Syndromes" EXACT []
xref: MESH:D005935
xref: RDO:0002524
is_a: DOID:1798 ! pancreatic endocrine carcinoma

[Term]
id: DOID:9007822
name: primary pulmonary hypertension 5
alt_id: MESH:C564862
synonym: "PPH5" EXACT []
synonym: "Primary Pulmonary Hypertension, 5" EXACT []
synonym: "Primary Pulmonary Hypertension 5, Autosomal Recessive" EXACT []
synonym: "PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE" EXACT []
xref: MIM:265400
is_a: DOID:14557 ! primary pulmonary hypertension

[Term]
id: DOID:9007823
name: Chromosome Xq26.3 Duplication Syndrome
def: "A syndrome due to microduplications of chromosome Xq26.3, characterized by excessive growth, usually beginning during the first year of life in previously normal infants. (OMIM)" []
synonym: "chromosome Xq26 microduplication syndrome" EXACT []
synonym: "XLAG" EXACT []
synonym: "X-linked acrogigantism" EXACT []
xref: MIM:300942
is_a: DOID:0060429 ! chromosomal duplication syndrome
created_by: rgd
creation_date: 2016-08-09T00:00:00Z

[Term]
id: DOID:9007826
name: Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis
xref: MESH:C565412
is_a: DOID:3650 ! lactic acidosis
is_a: DOID:9269 ! maple syrup urine disease

[Term]
id: DOID:9007827
name: Upper Airway Obstruction
def: "A blockage of the upper airway, which can be in the trachea, voice box (laryngeal), or throat (pharyngeal) areas." []
synonym: "upper respiratory tract obstruction" EXACT []
xref: RDO:9000089
is_a: DOID:9005700 ! Airway Obstruction

[Term]
id: DOID:9007828
name: Abnormalities, Drug-Induced
def: "Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment." [MESH:D000014]
synonym: "Drug-Induced Abnormality" EXACT []
xref: MESH:D000014
xref: RDO:0000716
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9007829
name: Mononegavirales Infections
def: "Infections with viruses of the order MONONEGAVIRALES. The concept includes FILOVIRIDAE INFECTIONS; PARAMYXOVIRIDAE INFECTIONS; and RHABDOVIRIDAE INFECTIONS." [MESH:D018701]
synonym: "Mononegavirales Infection" EXACT []
synonym: "Mononegavirales infectious disease" EXACT []
xref: EFO:0007376
xref: MESH:D018701
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:9007830
name: Fitzsimmons-Guilbert Syndrome
synonym: "Fitzsimmons syndrome" EXACT []
synonym: "Spastic paraplegia associated with brachydactyly type E" EXACT []
xref: MESH:C537938
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:225 ! syndrome
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9001722 ! Dysarthria

[Term]
id: DOID:9007832
name: Santos Syndrome
alt_id: MIM:613005
synonym: "Fibular Agenesis-Hypoplasia, Oligodactylous Clubfeet, and Anonychia-Nail Hypoplasia Syndrome" EXACT []
xref: MESH:C567819
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1148 ! polydactyly
is_a: DOID:11836 ! clubfoot
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9007833
name: Hay Wells Syndrome Recessive Type
synonym: "Ankyloblepharon, ectodermal defects, and cleft lip and palate and congenital adhesions between the upper and lower jaws (alveolar synechiae)" EXACT []
xref: MESH:C535846
xref: RDO:0001181
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:674 ! cleft palate
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9007834
name: Hyperthyroxinemia due to Decreased Peripheral Conversion of T4
alt_id: MIM:147892
synonym: "5-Prime-Deiodinase Deficiency, Generalized, Causing Euthyroid Hyperthyroxinemia" EXACT []
xref: MESH:C564122
xref: RDO:0013187
is_a: DOID:2855 ! hyperthyroxinemia

[Term]
id: DOID:9007835
name: Sickle Cell Retinopathy
def: "This represents the effects of arteriolar and capillary occlusions in the retina as a result of sickle cell anemia." []
synonym: "Proliferative retinopathy due to sickle cell disease" RELATED []
is_a: DOID:10923 ! sickle cell anemia
is_a: DOID:5679 ! retinal disease

[Term]
id: DOID:9007836
name: Reticuloendotheliosis, Avian
def: "A group of pathologic syndromes found in avian species caused by RETICULOENDOTHELIOSIS VIRUS. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant." [MESH:D055761]
synonym: "Avian Reticuloendothelioses" EXACT []
xref: MESH:D055761
xref: RDO:0007722
is_a: DOID:9006114 ! Bird Diseases

[Term]
id: DOID:9007837
name: PARC Syndrome
alt_id: MIM:600331
synonym: "Poikiloderma, Alopecia, Retrognathism, and Cleft palate" EXACT []
xref: MESH:C537174
is_a: DOID:225 ! syndrome
is_a: DOID:2732 ! Rothmund-Thomson syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9001031 ! Retrognathia
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9007838
name: Myocardial Reperfusion Injury
def: "Damage to the MYOCARDIUM resulting from MYOCARDIAL REPERFUSION (restoration of blood flow to ischemic areas of the HEART.) Reperfusion takes place when there is spontaneous thrombolysis, THROMBOLYTIC THERAPY, collateral flow from other coronary vascular beds, or reversal of vasospasm." [MESH:D015428]
synonym: "Myocardial Ischemic Reperfusion Injury" EXACT []
synonym: "Myocardial Reperfusion Injuries" EXACT []
xref: MESH:D015428
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:9004009 ! Reperfusion Injury
is_a: DOID:9007102 ! Myocardial Ischemia

[Term]
id: DOID:9007839
name: Selective Tooth Agenesis 3
alt_id: MIM:604625
alt_id: RDO:0015221
synonym: "Hypodontia-Oligodontia 3" EXACT []
synonym: "STHAG3" EXACT []
xref: MESH:C567036
is_a: DOID:0050591 ! tooth agenesis

[Term]
id: DOID:9007840
name: Chylothorax
def: "The presence of chyle in the thoracic cavity. (Dorland, 27th ed)" [MESH:D002916]
xref: EFO:1001780
xref: MESH:D002916
is_a: DOID:1532 ! pleural disease

[Term]
id: DOID:9007842
name: Sepsis-Associated Encephalopathy
def: "Acute neurological dysfunction during severe SEPSIS in the absence of direct brain infection characterized by systemic inflammation and BLOOD BRAIN BARRIER perturbation." [MESH:D065166]
synonym: "Sepsis Associated Delirium" EXACT []
synonym: "Sepsis Associated Deliriums" EXACT []
synonym: "Sepsis Associated Encephalopathies" EXACT []
xref: MESH:D065166
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9007843
name: Familial Streblodactyly
synonym: "Crooked little finger, familial" EXACT []
synonym: "Minor streblomicrodactyly, familial" EXACT []
xref: MESH:C536852
xref: RDO:0002563
is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital

[Term]
id: DOID:9007844
name: Branchiootic Syndrome 3
alt_id: MIM:608389
synonym: "BOS3" EXACT []
synonym: "BO Syndrome 3" EXACT []
xref: MESH:C564248
is_a: DOID:0060232 ! branchiootic syndrome

[Term]
id: DOID:9007845
name: Encopresis
def: "Incontinence of feces not due to organic defect or illness." [MESH:D004688]
xref: MESH:D004688
is_a: DOID:9000681 ! Elimination Disorders
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:9007847
name: Infantile Diarrhea
def: "DIARRHEA occurring in infants from newborn to 24-months old." [MESH:D003968]
synonym: "infantile diarrheas" EXACT []
xref: EFO:1001306
xref: MESH:D003968
xref: MONDO:0043555
is_a: DOID:13250 ! diarrhea

[Term]
id: DOID:9007848
name: Sarcoplasmic Body Myopathy
def: "An autosomal dominant disorder characterized by adult-onset muscle weakness affecting the proximal and distal muscles. Caused by heterozygous mutation in the MB gene on chromosome 22q11." [MIM:620286]
synonym: "myoglobinopathy" EXACT []
synonym: "MYOSB" EXACT []
xref: MIM:620286
is_a: DOID:423 ! myopathy
created_by: mtutaj
creation_date: 2023-03-29T09:41:57Z

[Term]
id: DOID:9007849
name: Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
alt_id: MIM:275595
xref: MESH:C564759
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9005616 ! Micrognathism
is_a: DOID:9008514 ! Psychomotor Disorders

[Term]
id: DOID:9007850
name: Verloove-Vanhorick Brubakk Syndrome
alt_id: MIM:215850
synonym: "Cleft Limb Heart Malformation Syndrome" EXACT []
synonym: "CLH Syndrome" EXACT []
xref: MESH:C536541
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9000066 ! Jaw Abnormalities
is_a: DOID:9000888 ! Pregnancy in Diabetics
is_a: DOID:9001018 ! Mouth Abnormalities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007851
name: Familial Developmental Dysphasia
synonym: "Billard-Toutain-Maheut syndrome" EXACT []
synonym: "FOXP2-associated dysphasia" EXACT []
xref: GARD:1823
xref: MESH:C563997
xref: MIM:600117
xref: MONDO:0010821
xref: ORDO:1799
is_a: DOID:0060046 ! aphasia

[Term]
id: DOID:9007852
name: Generalized Epilepsy with Febrile Seizures Plus, Type 12
def: "A disease characterized by variable types of seizures, most often febrile seizures, sometimes combined with additional nonfebrile seizures, including focal or generalized seizures. Caused by heterozygous mutation in the SLC32A1 gene on chromosome 20q11." [MIM:620755]
synonym: "GEFS+12" EXACT []
synonym: "GEFS+, type 12" EXACT []
synonym: "GEFSP12" EXACT []
xref: MIM:620755
is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus
created_by: tutajm
creation_date: 2024-03-18T12:43:57Z

[Term]
id: DOID:9007853
name: Worster-Drought Syndrome
alt_id: MIM:185480
synonym: "Congenital suprabulbar paresis" EXACT []
xref: MESH:C536747
is_a: DOID:0111563 ! Sturge-Weber syndrome
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:681 ! progressive bulbar palsy
is_a: DOID:9001722 ! Dysarthria

[Term]
id: DOID:9007854
name: Fibrous Dysplasia, Monostotic
def: "FIBROUS DYSPLASIA OF BONE involving only one bone." [MESH:D005358]
synonym: "Monostotic Fibrous Dysplasias" EXACT []
xref: MESH:D005358
xref: RDO:0005605
is_a: DOID:9008267 ! Fibrous Dysplasia of Bone

[Term]
id: DOID:9007855
name: Oslam syndrome
alt_id: MIM:165660
synonym: "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow" EXACT []
synonym: "osteosarcoma, limb anomalies, and macrocytosis" EXACT []
xref: MESH:C537138
is_a: DOID:225 ! syndrome
is_a: DOID:3347 ! osteosarcoma
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004389 ! Bone Neoplasms
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007856
name: Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities
alt_id: MIM:602471
synonym: "Sams" EXACT []
synonym: "Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities" EXACT []
xref: MESH:C566544
xref: RDO:0014872
is_a: DOID:0080006 ! bone development disease

[Term]
id: DOID:9007857
name: Maleylacetoacetate Isomerase Deficiency
def: "A disease characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. (OMIM)" []
synonym: "BENIGN HYPERSUCCINYLACETONEMIA" EXACT []
synonym: "BHSA" EXACT []
synonym: "MAAID" EXACT []
synonym: "MAAI DEFICIENCY" EXACT []
synonym: "MHSA" EXACT []
synonym: "MILD HYPERSUCCINYLACETONEMIA" EXACT []
xref: MIM:617596
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: rgd
creation_date: 2017-12-04T00:00:00Z

[Term]
id: DOID:9007858
name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE
def: "An X-linked recessive phenotype characterized by global developmental delay with hypotonia, delayed speech, and mildly delayed walking associated with somatic marfanoid features, including tall stature, long fingers, and mildly dysmorphic facies." [MIM:301039]
synonym: "Hackmann-Di Donato-type X-linked syndromic intellectual developmental disorder" EXACT []
synonym: "MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 2" EXACT []
synonym: "MRXSHD" EXACT []
xref: MIM:301039
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
is_a: DOID:14323 ! Marfan syndrome
created_by: slaulede
creation_date: 2020-07-21T13:45:56Z

[Term]
id: DOID:9007859
name: Mastocytic Enterocolitis
xref: GARD:10176
xref: MESH:C536032
is_a: DOID:350 ! mastocytosis

[Term]
id: DOID:9007860
name: Spindle Cell Nevus
def: "A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" [MESH:D018331]
synonym: "Spindle Cell Nevi" EXACT []
xref: EFO:1001105
xref: MESH:D018331
is_a: DOID:9005120 ! Pigmented Nevus

[Term]
id: DOID:9007861
name: Dental Deposits
def: "Accumulations of microflora that lead to pathological plaque and calculus which cause PERIODONTAL DISEASES. It can be considered a type of BIOFILMS. It is subtly distinguished from the protective DENTAL PELLICLE." [MESH:D003741]
synonym: "Dental Deposit" EXACT []
synonym: "Materia Alba" EXACT []
xref: MESH:D003741
is_a: DOID:1091 ! tooth disease

[Term]
id: DOID:9007863
name: Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery
alt_id: MIM:606894
synonym: "Duodenojejunal Atresia, Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery" EXACT []
xref: MESH:C535722
is_a: DOID:10486 ! intestinal atresia
is_a: DOID:8437 ! intestinal obstruction

[Term]
id: DOID:9007864
name: Ophthalmoplegia, Painful
synonym: "Nonspecific inflammation of the cavernous sinus or superior orbital fissure" EXACT []
xref: MESH:C531833
xref: RDO:0000225
is_a: DOID:1278 ! Tolosa-Hunt syndrome

[Term]
id: DOID:9007865
name: Recurrent Trigger Thumb
alt_id: RDO:0004578
synonym: "Bilateral trigger thumb" EXACT []
synonym: "Congenital trigger thumb" EXACT []
xref: MESH:C538662
is_a: DOID:9000583 ! Trigger Finger Disorder

[Term]
id: DOID:9007867
name: Aicardi-Goutieres Syndrome 5
alt_id: MIM:612952
synonym: "AGS5" EXACT []
synonym: "Aicardi-Goutieres syndrome, autosomal dominant" EXACT []
synonym: "SAMHD1-RELATED CONDITION" BROAD []
xref: MESH:C535608
xref: NCI:C168564
is_a: DOID:0050629 ! Aicardi-Goutieres syndrome

[Term]
id: DOID:9007868
name: Multiple mitochondrial dysfunctions syndrome 7
def: "An autosomal recessive disorder characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems. Caused by homozygous or compound heterozygous mutation in the glycine cleavage system H protein gene (GCSH) on chromosome 16q23." [MIM:620423]
synonym: "MMDS7" EXACT []
xref: MIM:620423
is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome
created_by: mtutaj
creation_date: 2023-07-07T12:18:29Z

[Term]
id: DOID:9007869
name: Boylan Dew Greco Syndrome
synonym: "Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita" EXACT []
xref: MESH:C537083
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:225 ! syndrome
is_a: DOID:3213 ! demyelinating disease

[Term]
id: DOID:9007870
name: Respiratory System Abnormalities
def: "Congenital structural abnormalities of the respiratory system." [MESH:D015619]
synonym: "Respiratory System Abnormality" EXACT []
xref: MESH:D015619
xref: RDO:0003779
is_a: DOID:1579 ! respiratory system disease
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9007871
name: Malignant Pleural Effusions
alt_id: RDO:0006938
def: "Presence of fluid in the PLEURAL CAVITY as a complication of malignant disease. Malignant pleural effusions often contain actual malignant cells." [MESH:D016066]
synonym: "malignant pleural effusion" EXACT []
xref: MESH:D016066
is_a: DOID:9000315 ! Pleural Neoplasms
is_a: DOID:9005883 ! Pleural Effusion

[Term]
id: DOID:9007872
name: Reactive Attachment Disorder
def: "Markedly disturbed and developmentally inappropriate social relatedness that begins before age 5 and is associated with grossly pathological child care. The child may persistently fail to initiate and respond to social interactions in a developmentally appropriate way (inhibited type) or there may be a pattern of diffuse attachments with nondiscriminate sociability (disinhibited type). (From DSM-V)" [MESH:D019962]
synonym: "Reactive Attachment Disorders" EXACT []
xref: MESH:D019962
xref: RDO:0007301
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:9007873
name: Primary Intraosseous Vascular Malformation
alt_id: MIM:606893
synonym: "intraosseous hemangioma" EXACT []
synonym: "Vascular Malformation Osseous" EXACT []
synonym: "VMOS" EXACT []
synonym: "VMPI" EXACT []
xref: MESH:C564648
is_a: DOID:9003191 ! Vascular Malformations

[Term]
id: DOID:9007874
name: Liver Failure
def: "Severe inability of the LIVER to perform its normal metabolic functions, as evidenced by severe JAUNDICE and abnormal serum levels of AMMONIA; BILIRUBIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; LACTATE DEHYDROGENASES; and albumin/globulin ratio. (Blakiston's Gould Medical Dictionary, 4th ed)" [MESH:D017093]
synonym: "Hepatic Failure" EXACT []
xref: MESH:D017093
is_a: DOID:9004250 ! Hepatic Insufficiency

[Term]
id: DOID:9007875
name: Kabuki Syndrome 2
synonym: "KABUK2" EXACT []
synonym: "KABUKI SYNDROME - KDM6A" EXACT []
synonym: "KDM6A-RELATED CONDITION" EXACT []
xref: MIM:300867
is_a: DOID:0060473 ! Kabuki syndrome

[Term]
id: DOID:9007877
name: Fetal Hypoxia
def: "Deficient oxygenation of FETAL BLOOD." [MESH:D005311]
synonym: "Fetal Anoxia" EXACT []
xref: EFO:1001793
xref: MESH:D005311
is_a: DOID:9001984 ! Fetal Diseases
is_a: DOID:9002669 ! Hypoxia

[Term]
id: DOID:9007878
name: Crossed Polydactyly, Type I
xref: MESH:C566783
xref: RDO:0015035
is_a: DOID:1148 ! polydactyly

[Term]
id: DOID:9007879
name: Thrombocythemia 2
synonym: "THCYT2" EXACT []
synonym: "THROMBOCYTHEMIA 2, SOMATIC" NARROW []
xref: MIM:601977
is_a: DOID:2228 ! thrombocytosis

[Term]
id: DOID:9007881
name: Hemoperitoneum
def: "Accumulations of blood in the PERITONEAL CAVITY due to internal HEMORRHAGE." [MESH:D006465]
synonym: "Hemoperitoneums" EXACT []
xref: MESH:D006465
is_a: DOID:9006175 ! Peritoneal Diseases
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9007882
name: Benign Neonatal Epilepsy, Autosomal Recessive
alt_id: MIM:269720
alt_id: RDO:0013654
synonym: "benign familial neonatal convulsions, autosomal recessive" EXACT []
synonym: "benign familial neonatal seizures, autosomal recessive" EXACT []
xref: MESH:C564823
is_a: DOID:14264 ! benign neonatal seizures

[Term]
id: DOID:9007883
name: Depressive Disorder, Treatment-Resistant
def: "Failure to respond to two or more trials of antidepressant monotherapy or failure to respond to four or more trials of different antidepressant therapies. (Campbell's Psychiatric Dictionary, 9th ed.)" [MESH:D061218]
synonym: "Refractory Depression" EXACT []
synonym: "Refractory Depressions" EXACT []
synonym: "Therapy Resistant Depression" EXACT []
synonym: "Therapy-Resistant Depressions" EXACT []
synonym: "Treatment Resistant Depression" EXACT []
synonym: "Treatment Resistant Depressions" EXACT []
synonym: "Treatment-Resistant Depressive Disorders" EXACT []
xref: EFO:0009854
xref: MESH:D061218
xref: RDO:0010055
is_a: DOID:1596 ! depressive disorder

[Term]
id: DOID:9007884
name: Lactic Acidosis, Chronic Adult Form
alt_id: MIM:150170
xref: MESH:C563640
is_a: DOID:3650 ! lactic acidosis

[Term]
id: DOID:9007885
name: Pachyonychia Congenita 4
synonym: "PC4" EXACT []
xref: MIM:615728
is_a: DOID:0050449 ! pachyonychia congenita
created_by: mtutaj
creation_date: 2019-03-26T12:18:57Z

[Term]
id: DOID:9007886
name: Chromosome 20, Trisomy
synonym: "Chromosome 20 duplication" EXACT []
synonym: "Trisomy 20" EXACT []
synonym: "Trisomy 20 mosaicism" EXACT []
xref: MESH:C535372
xref: NCI:C36397
xref: RDO:0000454
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9007887
name: Non-Lissencephalic Cortical Dysplasia
xref: MESH:C536243
is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations
is_a: DOID:480 ! movement disease
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:92 ! speech disorder
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9007888
name: primary pulmonary hypertension 3
synonym: "PPH3" EXACT []
synonym: "Primary Pulmonary Hypertension, 3" EXACT []
xref: MIM:615343
is_a: DOID:14557 ! primary pulmonary hypertension

[Term]
id: DOID:9007889
name: Nephrogenic Fibrosing Dermopathy
def: "A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents." [MESH:D054989]
synonym: "Nephrogenic Fibrosing Dermopathies" EXACT []
synonym: "Nephrogenic Systemic Fibroses" EXACT []
synonym: "Nephrogenic Systemic Fibrosis" EXACT []
xref: EFO:1001814
xref: MESH:D054989
is_a: DOID:37 ! skin disease
is_a: DOID:9000784 ! Fibrosis

[Term]
id: DOID:9007890
name: X-Linked Ichthyosis without Steroid Sulfatase Deficiency
alt_id: MIM:300001
xref: MESH:C564729
is_a: DOID:1700 ! X-linked ichthyosis

[Term]
id: DOID:9007892
name: Tics
def: "Habitual, repeated, rapid contraction of certain muscles, resulting in stereotyped individualized actions that can be voluntarily suppressed for only brief periods. They often involve the face, vocal cords, neck, and less often the extremities. Examples include repetitive throat clearing, vocalizations, sniffing, pursing the lips, and excessive blinking. Tics tend to be aggravated by emotional stress. When frequent they may interfere with speech and INTERPERSONAL RELATIONS. Conditions which feature frequent and prominent tics as a primary manifestation of disease are referred to as TIC DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, pp109-10)" [MESH:D020323]
synonym: "Gestural Tic" EXACT []
synonym: "Gestural Tics" EXACT []
synonym: "Habit Chorea" EXACT []
synonym: "Habit Choreas" EXACT []
synonym: "Habit Spasm" EXACT []
synonym: "Habit Spasms" EXACT []
synonym: "Habituation Spasm" EXACT []
synonym: "Habituation Spasms" EXACT []
synonym: "Motor Tic" EXACT []
synonym: "Motor Tics" EXACT []
synonym: "Tic" EXACT []
synonym: "Transient Tic" EXACT []
synonym: "Transient Tics" EXACT []
synonym: "Vocal Tic" EXACT []
synonym: "Vocal Tics" EXACT []
xref: MESH:D020323
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9007893
name: Glycosylphosphatidylinositol Biosynthesis Defect 21
synonym: "GPIBD21" EXACT []
synonym: "NEDBSS" EXACT []
synonym: "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS" EXACT []
xref: EFO:0010564
xref: MIM:618590
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
created_by: mtutaj
creation_date: 2019-09-18T08:50:45Z

[Term]
id: DOID:9007894
name: Autosomal Recessive Nonsyndromic Deafness 122
def: "A disease characterized by postnatal onset of nonsyndromic sensorineural hearing loss leading to deafness by the second or third decade caused by compound heterozygous mutation in the TMTC4 gene on chromosome 13q32." [MIM:620714]
synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 122" EXACT []
synonym: "DFNB122" EXACT []
xref: MIM:620714
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
created_by: tutajm
creation_date: 2024-02-19T14:41:13Z

[Term]
id: DOID:9007895
name: Arnold Stickler Bourne Syndrome
synonym: "Corneal crystals myopathy and nephropathy" EXACT []
xref: MESH:C537431
is_a: DOID:10124 ! corneal disease
is_a: DOID:225 ! syndrome
is_a: DOID:557 ! kidney disease
is_a: DOID:767 ! muscular atrophy

[Term]
id: DOID:9007896
name: Sclerosis
def: "A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve." [MESH:D012598]
synonym: "Scleroses" EXACT []
xref: MESH:D012598
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9007897
name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
def: "An autosomal recessive disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life; eventually they are unable to sit, feed, or communicate, and may be unresponsive to stimuli." [MIM:619076]
synonym: "NEDMISB" EXACT []
xref: MIM:619076
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9004462 ! Atrophy
created_by: slaulede
creation_date: 2021-01-18T14:44:27Z

[Term]
id: DOID:9007898
name: FG Syndrome 1
def: "This disease is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces. Affected individuals tend to be hyperactive and talkative." [MIM:305450]
synonym: "FGS1" EXACT []
synonym: "KELLER SYNDROME" EXACT []
synonym: "MED12-RELATED INTELLECTUAL DISABILITY SYNDROME" BROAD []
synonym: "MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM" EXACT []
synonym: "OKS" EXACT []
synonym: "OPITZ-KAVEGGIA SYNDROME" EXACT []
xref: MIM:305450
is_a: DOID:14711 ! FG syndrome
created_by: mtutaj
creation_date: 2020-02-17T13:22:58Z

[Term]
id: DOID:9007899
name: Animal Viral Hepatitis
def: "INFLAMMATION of the LIVER in animals due to viral infection." [MESH:D006524]
xref: EFO:0007540
xref: MESH:D006524
is_a: DOID:1884 ! viral hepatitis
is_a: DOID:9000722 ! Animal Hepatitis

[Term]
id: DOID:9007900
name: Multisystemic Smooth Muscle Dysfunction Syndrome
synonym: "congenital mydriasis with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" EXACT []
synonym: "MSMDS" EXACT []
synonym: "SMDYS" EXACT []
synonym: "smooth muscle dysfunction syndrome" EXACT []
xref: MIM:613834
is_a: DOID:13832 ! patent ductus arteriosus
is_a: DOID:14004 ! thoracic aortic aneurysm
is_a: DOID:225 ! syndrome
is_a: DOID:9002120 ! Congenital Mydriasis

[Term]
id: DOID:9007901
name: Grover's Disease
synonym: "Grover disease" EXACT []
synonym: "Transient Acantholytic Dermatosis" EXACT []
xref: MESH:C537306
xref: RDO:0003125
is_a: DOID:1697 ! ichthyosis
is_a: DOID:9008056 ! Acantholysis

[Term]
id: DOID:9007902
name: Progressive Encephalopathy, with or without Lipodystrophy
def: "Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade." []
synonym: "PELD" EXACT []
xref: MIM:615924
xref: RDO:9000327
is_a: DOID:811 ! lipodystrophy
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9007903
name: Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous
alt_id: MIM:245660
synonym: "JEB2C" EXACT []
synonym: "Laryngeal and ocular granulation in indian children" EXACT []
synonym: "Laryngoonychocutaneous Syndrome" EXACT []
synonym: "laryngo-onycho-cutaneous syndrome" EXACT []
synonym: "LOCS" EXACT []
synonym: "Logic syndrome" EXACT []
xref: MESH:C537032
is_a: DOID:225 ! syndrome
is_a: DOID:3209 ! junctional epidermolysis bullosa
is_a: DOID:4251 ! conjunctival disease
is_a: DOID:786 ! laryngeal disease

[Term]
id: DOID:9007904
name: Desmoplastic Ameloblastoma
def: "This is an ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." [NCI:C39758]
xref: EFO:1000215
is_a: DOID:0050894 ! ameloblastoma
created_by: slaulede
creation_date: 2023-02-06T17:59:31Z

[Term]
id: DOID:9007905
name: Trifascicular Block
def: "Abnormal conduction in all three divisions of the intraventricular conducting tissue." []
synonym: "Trifascicular block on electrocardiogram" RELATED []
xref: RDO:9000518
is_a: DOID:9003912 ! Bundle-Branch Block

[Term]
id: DOID:9007907
name: Congenital Myopathy with Neuropathy and Deafness
alt_id: RDO:9001749
synonym: "CMND" EXACT []
synonym: "congenital myopathy, neuropathy, and deafness" EXACT []
xref: MIM:617519
is_a: DOID:0080000 ! muscular disease
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9008681 ! Deafness
created_by: rgd
creation_date: 2017-07-12T00:00:00Z

[Term]
id: DOID:9007908
name: Aortic Coarctation
alt_id: MIM:120000
def: "A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion." [MESH:D001017]
synonym: "Aorta Coarctation" EXACT []
synonym: "Aorta Coarctations" EXACT []
synonym: "Aorta Dominant Coarctation" EXACT []
synonym: "Aorta Dominant Coarctations" EXACT []
synonym: "Aortic Coarctations" EXACT []
synonym: "Coarctation of Aorta" EXACT []
synonym: "Coarctation of Aorta Dominant" EXACT []
synonym: "Coarctation of the Aorta" EXACT []
synonym: "MIDAORTIC SYNDROME" RELATED []
xref: EFO:1001267
xref: MESH:D001017
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9007909
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES
def: "This disease is an autosomal recessive disorder characterized by impaired intellectual development with striking radiologic abnormalities of the lateral ventricles." [MIM:620746]
synonym: "NEDHBA" EXACT []
synonym: "SLC4A10-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
xref: MIM:620746
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006534 ! Nervous System Malformations
created_by: slaulederkind
creation_date: 2024-05-28T11:59:43Z

[Term]
id: DOID:9007910
name: Autoinflammation with Arthritis and Dyskeratosis
def: "A disease characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level. (OMIM)" []
synonym: "AIADK" EXACT []
xref: MIM:617388
is_a: DOID:848 ! arthritis
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9007911
name: Myoglobinuria, Autosomal Dominant
alt_id: MIM:160010
xref: MESH:C563546
is_a: DOID:0080108 ! myoglobinuria

[Term]
id: DOID:9007912
name: Familial Granulomatous Arteritis with Juvenile Polyarthritis
alt_id: MIM:108050
xref: MESH:C566253
is_a: DOID:525 ! central nervous system vasculitis
is_a: DOID:676 ! juvenile rheumatoid arthritis

[Term]
id: DOID:9007913
name: Collagen VI-related Myopathy
is_a: DOID:0050557 ! congenital muscular dystrophy
created_by: mtutaj
creation_date: 2022-05-25T14:18:01Z

[Term]
id: DOID:9007914
name: Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia
alt_id: MIM:603740
xref: MESH:C538181
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9007915
name: Fournier Gangrene
def: "An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease." [MESH:D018934]
synonym: "Fournier's Disease" EXACT []
synonym: "Fournier's Gangrene" EXACT []
synonym: "Fournier Disease" EXACT []
synonym: "Fourniers Disease" EXACT []
synonym: "Fourniers Gangrene" EXACT []
xref: MESH:D018934
xref: RDO:0007247
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:9007916
name: Age Related Macular Degeneration 3
alt_id: MIM:608895
synonym: "ARMD3" EXACT []
synonym: "hereditary neuropathy with or without age-related macular degeneration" RELATED []
synonym: "HNARMD" EXACT []
xref: MESH:C563838
is_a: DOID:10871 ! age related macular degeneration

[Term]
id: DOID:9007917
name: Supernumerary Tooth
def: "An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption." [MESH:D014096]
synonym: "Fourth Molar" EXACT []
synonym: "Fourth Molars" EXACT []
synonym: "Supernumerary Teeth" EXACT []
xref: MESH:D014096
xref: MIM:187100
xref: MONDO:0008533
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9007918
name: Hagemoser Weinstein Bresnick Syndrome
alt_id: RDO:0003498
synonym: "Optic atrophy, deafness and peripheral neuropathy" EXACT []
synonym: "Optic atrophy, hearing loss and peripheral neuropathy" EXACT []
xref: MESH:C537626
is_a: DOID:225 ! syndrome
is_a: DOID:2477 ! motor peripheral neuropathy
is_a: DOID:9005850 ! Hereditary Optic Atrophies
is_a: DOID:9006380 ! Bilateral Hearing Loss

[Term]
id: DOID:9007920
name: Thoracic Neoplasms
def: "New abnormal growth of tissue in the THORAX." [MESH:D013899]
synonym: "thoracic neoplasm" EXACT []
synonym: "thoracic tumor" EXACT []
synonym: "thorax neoplasm" EXACT []
synonym: "tumor of thorax" EXACT []
xref: MESH:D013899
xref: MONDO:0021350
is_a: DOID:0060118 ! thoracic disease
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:9007921
name: Spina Bifida Cystica
def: "A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a MENINGOCELE) or meninges in combination with spinal cord tissue (i.e., a MENINGOMYELOCELE). These lesions are frequently associated with spinal cord dysfunction, HYDROCEPHALUS, and SYRINGOMYELIA. (From Davis et al., Textbook of Neuropathology, 2nd ed, pp224-5)" [MESH:D016137]
synonym: "Open Spina Bifida" EXACT []
synonym: "Spina Bifida Aperta" EXACT []
synonym: "Spina Bifida Manifesta" EXACT []
xref: MESH:D016137
xref: RDO:0002756
is_a: DOID:0080016 ! spina bifida

[Term]
id: DOID:9007922
name: Chromosome 5, Monosomy 5q35
synonym: "Deletion 5q35" EXACT []
synonym: "Monosomy 5q35" EXACT []
xref: MESH:C537647
xref: RDO:0003523
is_a: DOID:12580 ! Cri-du-Chat syndrome
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9007923
name: Back Pain
def: "Acute or chronic pain located in the posterior regions of the THORAX; LUMBOSACRAL REGION; or the adjacent regions." [MESH:D001416]
synonym: "Back Ache" EXACT []
synonym: "Backache" EXACT []
synonym: "Back Aches" EXACT []
synonym: "Backaches" EXACT []
synonym: "Back Pains" EXACT []
synonym: "Back Pain without Radiation" EXACT []
synonym: "Back Pain with Radiation" EXACT []
synonym: "Vertebrogenic Pain Syndrome" EXACT []
synonym: "Vertebrogenic Pain Syndromes" EXACT []
xref: MESH:D001416
xref: RDO:0004964
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9007924
name: Dyskinesia with Orofacial Involvement
synonym: "familial dyskinesia with facial myokymia" EXACT []
synonym: "FDFM" EXACT []
xref: MESH:C564676
xref: MIM:PS606703
xref: NCI:C202047
is_a: DOID:9003935 ! Myokymia
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9007925
name: Sudden Cardiac Death
def: "Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)" [MESH:D016757]
synonym: "FAMILY HISTORY OF SUDDEN CARDIAC DEATH" RELATED []
synonym: "sudden cardiac arrest" EXACT []
synonym: "sudden cardiac arrests" EXACT []
xref: EFO:0004278
xref: MESH:D016757
is_a: DOID:0060319 ! cardiac arrest
is_a: DOID:9007820 ! Sudden Death

[Term]
id: DOID:9007926
name: Prostate Cancer, Hereditary, X-Linked 3
synonym: "HPCX3" EXACT []
xref: MIM:301120
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9005539 ! Familial Prostate Cancer
created_by: tutajm
creation_date: 2024-07-17T18:36:50Z

[Term]
id: DOID:9007927
name: Polydactyly Myopia Syndrome
alt_id: MIM:174310
synonym: "Czeizel Brooser syndrome" EXACT []
synonym: "Postaxial polydactyly-progressive myopia syndrome" EXACT []
synonym: "Postaxial Polydactyly with progressive myopia" EXACT []
xref: MESH:C536331
is_a: DOID:1148 ! polydactyly
is_a: DOID:11830 ! myopia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9007928
name: Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature
alt_id: MIM:126320
xref: MESH:C565092
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9003191 ! Vascular Malformations

[Term]
id: DOID:9007929
name: Gastric Diffuse Large B-Cell Lymphoma
def: "This is an extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." [NCI:C5253]
synonym: "primary diffuse large B-cell gastric lymphoma" EXACT []
synonym: "primary diffuse large B-cell lymphoma of the stomach" EXACT []
xref: EFO:1000270
is_a: DOID:0050745 ! diffuse large B-cell lymphoma
created_by: slaulede
creation_date: 2023-01-09T17:03:18Z

[Term]
id: DOID:9007931
name: Tuberculoma
def: "A tumor-like mass resulting from the enlargement of a tuberculous lesion." [MESH:D014375]
synonym: "Tuberculomas" EXACT []
xref: MESH:D014375
is_a: DOID:399 ! tuberculosis

[Term]
id: DOID:9007932
name: Ununited Fractures
def: "A fracture in which union fails to occur, the ends of the bone becoming rounded and eburnated, and a false joint occurs. (Stedman, 25th ed)" [MESH:D005599]
synonym: "Ununited Fracture" EXACT []
xref: EFO:0009707
xref: MESH:D005599
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9007933
name: Richards-Rundle Syndrome
alt_id: MIM:245100
synonym: "Ataxia-deafness-retardation syndrome with ketoaciduria" EXACT []
synonym: "Familial ataxia-hypogonadism syndrome" EXACT []
synonym: "Ketoaciduria-mental deficiency syndrome" EXACT []
synonym: "Ketoaciduria With Mental Deficiency And Other Features" EXACT []
xref: MESH:C535674
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9008681 ! Deafness
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9007934
name: Ectrodactyly-Cleft Palate Syndrome
alt_id: MIM:129830
synonym: "ECP syndrome" EXACT []
xref: MESH:C565064
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9007935
name: Gingival Pocket
def: "An abnormal extension of a gingival sulcus not accompanied by the apical migration of the epithelial attachment." [MESH:D005888]
synonym: "Gingival Pockets" EXACT []
xref: MESH:D005888
is_a: DOID:3087 ! gingivitis

[Term]
id: DOID:9007936
name: Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature
synonym: "FILS" EXACT []
xref: MIM:615139
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9001467 ! Livedo Reticularis
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007472 ! Skin Manifestations
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9007937
name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES
def: "This disease is an autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood. The severity of the disorder is highly variable. Affected individuals show impaired intellectual development and motor delay associated with either severe hypotonia or hypertonia and spasticity. Most affected individuals have skeletal defects and dysmorphic facial features." [MIM:619833]
synonym: "NEDNMS" EXACT []
synonym: "NRCAM-RELATED CONDITION" EXACT []
synonym: "NRCAM-RELATED DISORDER" EXACT []
xref: MIM:619833
is_a: DOID:440 ! neuromuscular disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
created_by: slaulede
creation_date: 2022-06-30T11:29:13Z

[Term]
id: DOID:9007938
name: Myxomatous Mitral Valve Prolapse 3
alt_id: MIM:610840
synonym: "MITRAL VALVE PROLAPSE 3" EXACT []
synonym: "MMVP3" EXACT []
synonym: "MVP3" EXACT []
xref: MESH:C563655
is_a: DOID:988 ! mitral valve prolapse

[Term]
id: DOID:9007939
name: Multiple Self-healing Palmoplantar Carcinoma
synonym: "CIDED" EXACT []
synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia" EXACT []
synonym: "MSPC" EXACT []
xref: MIM:615225
is_a: DOID:3149 ! keratoacanthoma
is_a: DOID:9001946 ! Skin Abnormalities
is_a: DOID:9008245 ! Conjunctival Neoplasms

[Term]
id: DOID:9007940
name: Primary Bile Acid Malabsorption 1
alt_id: MIM:613291
synonym: "PBAM1" EXACT []
synonym: "SLC10A2-RELATED CONDITION" EXACT []
is_a: DOID:9003880 ! Primary Bile Acid Malabsorption
created_by: mtutaj
creation_date: 2021-08-25T10:06:21Z

[Term]
id: DOID:9007941
name: Retinal Dystrophy with or without Macular Staphyloma
synonym: "CFAP410-RELATED CONDITION" BROAD []
synonym: "RDMS" EXACT []
synonym: "retinal dystrophy with macular staphyloma" EXACT []
xref: MIM:617547
is_a: DOID:8501 ! fundus dystrophy
created_by: rgd
creation_date: 2017-07-12T00:00:00Z

[Term]
id: DOID:9007942
name: Nephrosis with Deafness and Urinary Tract and Digital Malformations
alt_id: MIM:256200
synonym: "Nephrosis Deafness Urinary Tract Digital Malformation" EXACT []
xref: MESH:C536402
is_a: DOID:2527 ! nephrosis
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9007943
name: Microphthalmia/Coloboma 12
synonym: "MCOPCB12" EXACT []
xref: MIM:120200
is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma
created_by: tutajm
creation_date: 2024-03-18T12:17:20Z

[Term]
id: DOID:9007944
name: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION
def: "This disease is an immunologic disorder characterized by anemia and thrombocytopenia associated with circulating autoantibodies, positive Coombs test, and increased levels of proinflammatory cytokines due to constitutive activation of immune-related signaling pathways." [MIM:620514]
synonym: "ACTIVATING PLCG1 VARIANT-ASSOCIATED SYNDROME" EXACT []
synonym: "APLS" EXACT []
synonym: "IDAA" EXACT []
xref: MIM:620514
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: slaulederkind
creation_date: 2023-11-07T14:11:22Z

[Term]
id: DOID:9007945
name: Spondyloenchondrodysplasia
synonym: "Spondyloenchondromatosis" EXACT []
synonym: "Spondylometaphyseal dysplasia with enchondromatous changes" EXACT []
xref: MESH:C535782
xref: RDO:0001086
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:417 ! autoimmune disease

[Term]
id: DOID:9007949
name: Ichthyosis, Split Hairs, and Amino Aciduria
alt_id: MIM:242550
xref: MESH:C565471
is_a: DOID:1697 ! ichthyosis
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9007950
name: Auditory Perceptual Impairment
xref: MESH:C538436
xref: RDO:0004408
is_a: DOID:9001722 ! Dysarthria

[Term]
id: DOID:9007952
name: Cystinosis, Ocular Nonnephropathic
alt_id: MIM:219750
synonym: "Cystinosis, Adult Nonnephropathic" EXACT []
synonym: "Cystinosis, Benign Nonnephropathic" EXACT []
xref: MESH:C535765
xref: ORDO:411641
is_a: DOID:1064 ! cystinosis

[Term]
id: DOID:9007953
name: Headache Disorders
def: "Various conditions with the symptom of HEADACHE. Headache disorders are classified into major groups, such as PRIMARY HEADACHE DISORDERS (based on characteristics of their headache symptoms) and SECONDARY HEADACHE DISORDERS (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" [MESH:D020773]
synonym: "Cephalgia Syndrome" EXACT []
synonym: "Cephalgia Syndromes" EXACT []
synonym: "Chronic Daily Headache" EXACT []
synonym: "Chronic Daily Headaches" EXACT []
synonym: "Chronic Headache" EXACT []
synonym: "Chronic Headaches" EXACT []
synonym: "Headache Disorder" EXACT []
synonym: "Headache Syndrome" EXACT []
synonym: "Headache Syndromes" EXACT []
synonym: "Intractable Headache" EXACT []
synonym: "Intractable Headaches" EXACT []
xref: EFO:0009550
xref: MESH:D020773
xref: RDO:0007428
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9007954
name: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA
def: "This disease is characterized by macrocephaly, cranial hyperostosis, anvertebral endplate sclerosis, and hip dysplasia. Bone biopsy of patients shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, resulting in coarse trabeculae." [MIM:620558]
synonym: "CMDOH" EXACT []
xref: MIM:620558
is_a: DOID:0080032 ! craniodiaphyseal dysplasia
created_by: slaulederkind
creation_date: 2024-01-18T10:03:52Z

[Term]
id: DOID:9007955
name: Feline Panleukopenia
def: "A highly contagious DNA virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by FELINE PANLEUKOPENIA VIRUS or the closely related MINK ENTERITIS VIRUS or CANINE PARVOVIRUS." [MESH:D005254]
synonym: "Cat Plague" EXACT []
synonym: "Cat Plagues" EXACT []
synonym: "Feline Agranulocytoses" EXACT []
synonym: "Feline Agranulocytosis" EXACT []
synonym: "Feline Ataxia" EXACT []
synonym: "Feline Ataxias" EXACT []
synonym: "Feline Distemper" EXACT []
synonym: "Feline Distempers" EXACT []
synonym: "Feline Infectious Enteritides" EXACT []
synonym: "Feline Infectious Enteritis" EXACT []
synonym: "Feline Panleukopenias" EXACT []
synonym: "Show Fever" EXACT []
synonym: "Show Fevers" EXACT []
xref: MESH:D005254
is_a: DOID:9000331 ! Parvoviridae Infections
is_a: DOID:9005924 ! Cat Diseases

[Term]
id: DOID:9007956
name: Febrile Seizures
def: "Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)" [MESH:D003294]
synonym: "COMPLEX FEBRILE SEIZURES" EXACT []
synonym: "Febrile Convulsion" EXACT []
synonym: "Febrile Convulsions" EXACT []
synonym: "Febrile Convulsion Seizure" EXACT []
synonym: "Febrile Convulsion Seizures" EXACT []
synonym: "Febrile Fit" EXACT []
synonym: "Febrile Fits" EXACT []
synonym: "Febrile Seizure" EXACT []
synonym: "febrile seizure, complex" EXACT []
synonym: "febrile seizure, simple" EXACT []
synonym: "Fever Convulsion" EXACT []
synonym: "Fever Convulsions" EXACT []
synonym: "Fever Seizure" EXACT []
synonym: "Fever Seizures" EXACT []
synonym: "MMR-related febrile seizures" NARROW []
synonym: "Pyrexial Convulsion" EXACT []
synonym: "Pyrexial Convulsions" EXACT []
synonym: "Pyrexial Seizure" EXACT []
synonym: "Pyrexial Seizures" EXACT []
xref: EFO:0006519
xref: MESH:D003294
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:9007957
name: Transient Neonatal Hyperglycinemia
xref: MESH:C562672
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9268 ! glycine encephalopathy

[Term]
id: DOID:9007959
name: Neurodegeneration with Ataxia and Late-Onset Optic Atrophy
synonym: "NDAXOA" EXACT []
xref: MIM:619259
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9004866 ! Ataxia
created_by: mtutaj
creation_date: 2021-04-13T13:33:51Z

[Term]
id: DOID:9007960
name: Adult-Onset Muscular Dystrophy with Leukoencephalopathy
alt_id: MIM:253590
xref: MESH:C565361
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9007962
name: Craniofacial Microsomia 2
def: "A craniofacial microsomia caused by homozygous or heterozygous mutation in the FOXI3 gene on chromosome 2p11." []
synonym: "CFM2" EXACT []
synonym: "FOXI3-RELATED CONDITION" EXACT []
xref: MIM:620444
xref: MONDO:0958194
is_a: DOID:9008003 ! Mandibulofacial Dysostosis
created_by: mtutaj
creation_date: 2023-07-25T09:29:29Z

[Term]
id: DOID:9007963
name: Keratoconus Posticus Circumscriptus with Associated Malformations
synonym: "KPC with Associated Malformations" EXACT []
xref: MESH:C565455
is_a: DOID:9006632 ! Keratoconus Posticus Circumscriptus
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007964
name: Arsenic Poisoning
def: "Disorders associated with acute or chronic exposure to compounds containing ARSENIC (ARSENICALS) which may be fatal. Acute oral ingestion is associated with gastrointestinal symptoms and an encephalopathy which may manifest as SEIZURES, mental status changes, and COMA. Chronic exposure is associated with mucosal irritation, desquamating rash, myalgias, peripheral neuropathy, and white transverse (Mees) lines in the fingernails. (Adams et al., Principles of Neurology, 6th ed, p1212)" [MESH:D020261]
synonym: "Arsenical Neurotoxicity Syndrome" EXACT []
synonym: "Arsenical Neurotoxicity Syndromes" EXACT []
synonym: "Arsenic Encephalopathies" EXACT []
synonym: "Arsenic Encephalopathy" EXACT []
synonym: "Arsenic-Induced Polyneuropathies" EXACT []
synonym: "Arsenic Induced Polyneuropathy" EXACT []
synonym: "Arsenic Poisoning, Nervous System" EXACT []
synonym: "Arsenic Poisonings" EXACT []
synonym: "Inorganic Arsenic Poisoning" EXACT []
synonym: "Inorganic Arsenic Poisonings" EXACT []
synonym: "Nervous System, Organic Arsenic Poisoning" EXACT []
synonym: "Organic Arsenic Poisoning" EXACT []
synonym: "Organic Arsenic Poisonings" EXACT []
xref: MESH:D020261
xref: RDO:0007378
is_a: DOID:9000046 ! Poisoning
is_a: DOID:9001363 ! Heavy Metal Poisoning, Nervous System

[Term]
id: DOID:9007965
name: Vitelliform Macular Dystrophy 3
synonym: "adult-onset foveomacular dystrophies" EXACT []
synonym: "adult-onset foveomacular dystrophy" EXACT []
synonym: "ADULT ONSET VITELLIFORM DYSTROPHY" EXACT []
synonym: "Adult Onset Vitelliform Macular Dystrophy" EXACT []
synonym: "AOFMD" EXACT []
synonym: "AVMD" EXACT []
synonym: "Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization" EXACT []
synonym: "FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION" EXACT []
synonym: "VMD3" EXACT []
xref: MIM:608161
is_a: DOID:0050661 ! vitelliform macular dystrophy
created_by: mtutaj
creation_date: 2019-02-26T09:29:41Z

[Term]
id: DOID:9007966
name: Nonsyndromic Sensorineural Hearing Loss
synonym: "autosomal dominant nonsyndromic hereditary hearing impairment" NARROW []
synonym: "Nonsyndromic hearing loss, dominant" NARROW []
synonym: "NON-SYNDROMIC HEREDITARY HEARING IMPAIRMENT" EXACT []
synonym: "nonsyndromic hereditary hearing impairment" EXACT []
xref: MESH:C537845
is_a: DOID:10003 ! sensorineural hearing loss

[Term]
id: DOID:9007967
name: Alpha-Fetoprotein, Hereditary Persistence of
def: "A clinically benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life. Caused by heterozygous mutation in the AFP gene on chromosome 4q13." [MIM:615970]
synonym: "HPAFP" EXACT []
xref: MIM:615970
is_a: DOID:655 ! inherited metabolic disorder
created_by: mtutaj
creation_date: 2022-12-20T09:37:30Z

[Term]
id: DOID:9007968
name: Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly
alt_id: RDO:0003951
synonym: "Absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance" EXACT []
xref: MESH:C538016
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9001487 ! Facies
is_a: DOID:9005329 ! Preaxial Polydactyly
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9007969
name: Necrobiotic Xanthogranuloma
def: "A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement." [MESH:D058252]
synonym: "Necrobiotic Xanthogranulomas" EXACT []
xref: EFO:1001376
xref: MESH:D058252
is_a: DOID:3345 ! xanthomatosis
is_a: DOID:9002019 ! Granuloma
is_a: DOID:9005057 ! Necrobiotic Disorders

[Term]
id: DOID:9007970
name: Chronic Cerebral Hypoperfusion
def: "A major factor contributing to cognitive decline in age-related neurological disorders. Such a decrease in cerebral blood flow has been associated with Alzheimer disease and vascular dementia." []
synonym: "CCH" EXACT []
xref: RDO:9000062
is_a: DOID:2316 ! brain ischemia

[Term]
id: DOID:9007971
name: Nose Neoplasms
def: "Tumors or cancer of the NOSE." [MESH:D009669]
synonym: "Cancer of Nose" EXACT []
synonym: "Cancer of the Nose" EXACT []
synonym: "Nasal Cancer" EXACT []
synonym: "Nasal Cancers" EXACT []
synonym: "Nasal Neoplasm" EXACT []
synonym: "Nasal Neoplasms" EXACT []
synonym: "Nose Cancer" EXACT []
synonym: "Nose Cancers" EXACT []
synonym: "Nose Neoplasm" EXACT []
xref: MESH:D009669
xref: RDO:0000965
is_a: DOID:2825 ! nose disease
is_a: DOID:9001331 ! Skull Neoplasms
is_a: DOID:9003744 ! Respiratory Tract Neoplasms
is_a: DOID:9006815 ! Otorhinolaryngologic Neoplasms

[Term]
id: DOID:9007972
name: Vein of Galen Malformations
def: "Congenital arteriovenous malformation involving the VEIN OF GALEN, a large deep vein at the base of the brain. The rush of arterial blood directly into the vein of Galen, without passing through the CAPILLARIES, can overwhelm the heart and lead to CONGESTIVE HEART FAILURE." [MESH:D054080]
synonym: "Galen Vein Malformations" EXACT []
xref: MESH:D054080
is_a: DOID:0060688 ! arteriovenous malformations of the brain

[Term]
id: DOID:9007973
name: Genetic Translocation
def: "A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome." [MESH:D014178]
synonym: "Chromosomal Translocation" EXACT []
synonym: "Chromosomal Translocations" EXACT []
synonym: "Genetic Translocations" EXACT []
xref: MESH:D014178
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9007974
name: Torus Palatinus and Torus Mandibularis
alt_id: MIM:189700
xref: MESH:C566043
is_a: DOID:203 ! exostosis

[Term]
id: DOID:9007975
name: Broad Terminal Phalanges, Familial
alt_id: MIM:602071
xref: MESH:C566588
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007976
name: Vesicovaginal Fistula
def: "An abnormal anatomical passage between the URINARY BLADDER and the VAGINA." [MESH:D014719]
synonym: "Vesico Vaginal Fistula" EXACT []
synonym: "Vesico Vaginal Fistulae" EXACT []
synonym: "Vesicovaginal Fistulae" EXACT []
synonym: "Vesico-Vaginal Fistulas" EXACT []
synonym: "Vesicovaginal Fistulas" EXACT []
xref: MESH:D014719
is_a: DOID:9002824 ! Vaginal Fistula
is_a: DOID:9006172 ! Urinary Bladder Fistula

[Term]
id: DOID:9007977
name: Asymmetric Short Stature Syndrome
alt_id: MIM:108450
xref: MESH:C566248
is_a: DOID:225 ! syndrome
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008296 ! Eye Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9007978
name: Grange Syndrome
alt_id: MIM:602531
synonym: "Grange occlusive arterial syndrome" EXACT []
synonym: "GRNG" EXACT []
synonym: "progressive arterial occlusive disease with hypertension, heart defects, bone fragility, and brachysyndactyly" EXACT []
xref: MESH:C566529
is_a: DOID:0050581 ! brachydactyly
is_a: DOID:10763 ! hypertension
is_a: DOID:11193 ! syndactyly
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006474 ! Arterial Occlusive Diseases

[Term]
id: DOID:9007979
name: Isolated Microphthalmia with Corectopia
alt_id: MIM:156900
synonym: "MCOPCR" EXACT []
synonym: "Microphthalmia And Corectopia" EXACT []
synonym: "Microphthalmia With Myopia And Corectopia" EXACT []
xref: MESH:C563581
is_a: DOID:0080637 ! isolated microphthalmia
is_a: DOID:11830 ! myopia
is_a: DOID:238 ! pupil disease

[Term]
id: DOID:9007980
name: Sleep Deprivation
def: "The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder." [MESH:D012892]
synonym: "Insufficient Sleep Syndrome" EXACT []
synonym: "Insufficient Sleep Syndromes" EXACT []
synonym: "REM Sleep Deprivation" EXACT []
synonym: "REM Sleep Deprivations" EXACT []
synonym: "Sleep Deprivations" EXACT []
synonym: "Sleep Fragmentation" EXACT []
synonym: "Sleep Fragmentations" EXACT []
xref: MESH:D012892
is_a: DOID:9002111 ! Dyssomnias

[Term]
id: DOID:9007981
name: Pagon Stephan Syndrome
synonym: "Septo-optic dysplasia with digital anomalies" EXACT []
xref: GARD:0004195
xref: MESH:C538100
is_a: DOID:0060857 ! septooptic dysplasia
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9007983
name: Cranial Nerves, Congenital Paresis of
alt_id: MIM:218100
xref: MESH:C565673
is_a: DOID:5656 ! cranial nerve disease

[Term]
id: DOID:9007984
name: Fleck Retina of Kandori
alt_id: MIM:228990
xref: MESH:C562701
is_a: DOID:8499 ! night blindness

[Term]
id: DOID:9007985
name: Halal Syndrome
synonym: "Microcephaly cleft palate autosomal dominant" EXACT []
xref: MESH:C535622
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9007986
name: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION
def: "This disease is an autosomal recessive disorder characterized by onset of progressive motor abnormalities in early childhood after normal early development. Affected individuals show regression of motor function with axial hypotonia, appendicular spasticity, and ataxic gait or loss of ambulation. Short stature and small head circumference or microcephaly are observed." [MIM:620515]
synonym: "NEDRSO" EXACT []
xref: MIM:620515
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulederkind
creation_date: 2023-11-09T11:39:58Z

[Term]
id: DOID:9007987
name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION
def: "This disease is an autosomal recessive syndromic disorder characterized primarily by neurologic deficits. Patients show global developmental delay and variably impaired intellectual development with speech delay apparent from infancy. Affected individuals have hypotonia, poor feeding, poor overall growth, and respiratory distress early in life. The disorder is progressive and has features suggestive of a mitochondrial disorder: cataracts, cardiomyopathy, diabetes mellitus, combined oxidative phosphorylation deficiency, and increased lactate." [MIM:620089]
synonym: "CONDMIM" EXACT []
xref: MIM:620089
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2022-12-13T08:49:53Z

[Term]
id: DOID:9007988
name: Granulomatous Interstitial Nephritis
def: "Inflammation of the interstitial tissue of the kidney with formation of granulomas." []
synonym: "GIN" EXACT []
is_a: DOID:1063 ! interstitial nephritis
created_by: rgd
creation_date: 2016-08-18T00:00:00Z

[Term]
id: DOID:9007989
name: Green Sandford Davison Syndrome
xref: MESH:C538221
is_a: DOID:11193 ! syndactyly
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9007991
name: Hereditary Angioedema 8
def: "This disease is an autosomal dominant disorder characterized clinically by recurrent and self-limited episodes of localised edema in various organs, including the face, tongue, larynx, and extremities. The disorder results from enhanced vascular permeability." [MIM:619367]
synonym: "HAE8" EXACT []
xref: MIM:619367
is_a: DOID:14735 ! hereditary angioedema
created_by: slaulede
creation_date: 2021-08-10T17:30:25Z

[Term]
id: DOID:9007992
name: Hyperphosphatemic Familial Tumoral Calcinosis 1
synonym: "HFTC1" EXACT []
xref: MIM:211900
is_a: DOID:0111063 ! hyperphosphatemic familial tumoral calcinosis
created_by: mtutaj
creation_date: 2019-05-02T09:14:40Z

[Term]
id: DOID:9007993
name: Dehydration
def: "The condition that results from excessive loss of water from a living organism." [MESH:D003681]
synonym: "Water Stress" EXACT []
xref: EFO:0009385
xref: MESH:D003681
is_a: DOID:9004004 ! Water-Electrolyte Imbalance
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9007994
name: ligament rupture
def: "This is a partial or complete tear of a ligament, such as the Anterior Cruciate Ligament (ACL) of the knee." [EFO:1002012]
xref: EFO:1002012
is_a: DOID:9001913 ! Soft Tissue Injuries
created_by: slaulede
creation_date: 2023-01-06T11:04:11Z

[Term]
id: DOID:9007996
name: End Stage Liver Disease
def: "Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed." [MESH:D058625]
synonym: "Chronic Liver Failure" EXACT []
synonym: "Chronic Liver Failures" EXACT []
xref: EFO:1001311
xref: MESH:D058625
xref: RDO:0007844
is_a: DOID:9007874 ! Liver Failure

[Term]
id: DOID:9007997
name: Mental Retardation Syndrome, Belgian Type
alt_id: MIM:249599
xref: MESH:C537447
is_a: DOID:1059 ! intellectual disability

[Term]
id: DOID:9007998
name: Hydatidiform Mole, Invasive
def: "A uterine tumor derived from persistent gestational TROPHOBLASTS, most likely after a molar pregnancy (HYDATIDIFORM MOLE). Invasive hyadatiform mole develops in about 15% of patients after evacuation of a complete mole and less frequently after other types of gestation. It may perforate the MYOMETRIUM and erode uterine vessels causing hemorrhage." [MESH:D002820]
synonym: "Chorioadenoma" EXACT []
synonym: "Chorioadenomas" EXACT []
synonym: "Invasive Hydatidiform Moles" EXACT []
synonym: "Invasive Mole" EXACT []
synonym: "Invasive Moles" EXACT []
xref: MESH:D002820
xref: RDO:0005203
is_a: DOID:9005147 ! Hydatidiform Mole

[Term]
id: DOID:9007999
name: Pyelocystitis
def: "Inflammation of the KIDNEY PELVIS and the URINARY BLADDER." [MESH:D053653]
synonym: "Cystopyelitis" EXACT []
xref: EFO:1001835
xref: MESH:D053653
is_a: DOID:1679 ! cystitis
is_a: DOID:2744 ! pyelitis

[Term]
id: DOID:9008
name: psoriatic arthritis
alt_id: MIM:607507
def: "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis. (DO)" [http://en.wikipedia.org/wiki/Psoriatic_arthropathy "DO", http://www.mayoclinic.com/health/psoriatic-arthritis/DS00476 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000413.htm "DO", https://ghr.nlm.nih.gov/condition/psoriatic-arthritis "DO"]
synonym: "Arthritic Psoriasis" EXACT []
synonym: "arthritis psoriatica" EXACT []
synonym: "arthropathic psoriasis" EXACT []
synonym: "PSORAS1" NARROW []
synonym: "Psoriasis Arthropathica" EXACT []
synonym: "PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO" EXACT []
synonym: "PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1" NARROW []
synonym: "Psoriatic Arthropathies" EXACT []
synonym: "Psoriatic Arthropathy" EXACT []
xref: EFO:0003778
xref: ICD10CM:L40.5
xref: ICD9CM:696.0
xref: MESH:D015535
xref: NCI:C61277
is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue
is_a: DOID:1123 ! spondyloarthropathy
is_a: DOID:848 ! arthritis
is_a: DOID:8893 ! psoriasis

[Term]
id: DOID:9008000
name: Autosomal Emery-Dreifuss Muscular Dystrophy
def: "Emery-Dreifuss muscular dystrophy associated with mutations on LAMINS (LMNA gene). (MESH)" []
xref: MESH:D000083144
is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy
is_a: DOID:9006138 ! Laminopathies
created_by: mtutaj
creation_date: 2021-02-18T17:21:11Z

[Term]
id: DOID:9008001
name: Familial Febrile Seizures 3B
synonym: "Familial Febrile Convulsions 3B" EXACT []
xref: MESH:C567821
is_a: DOID:0111297 ! familial febrile seizures

[Term]
id: DOID:9008002
name: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME
def: "This is a disease characterized by global developmental delay with delayed walking or inability to walk, impaired intellectual development with poor or absent speech, axial hypotonia and dysmorphic facies." [MIM:619311]
synonym: "HINCONS" EXACT []
synonym: "RALA-RELATED CONDITION" EXACT []
xref: MIM:619311
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2021-06-17T12:48:32Z

[Term]
id: DOID:9008003
name: Mandibulofacial Dysostosis
def: "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)" [MESH:D008342]
synonym: "Franceschetti-Zwahlen-Klein Syndrome" EXACT []
synonym: "Mandibulofacial Dysostoses" EXACT []
synonym: "TCOF" EXACT []
synonym: "Treacher Collins-Franceschetti Syndrome" EXACT []
xref: MESH:D008342
xref: RDO:0000931
is_a: DOID:2339 ! Crouzon syndrome

[Term]
id: DOID:9008004
name: Aicardi-Goutieres Syndrome 3
alt_id: MIM:610329
synonym: "AGS3" EXACT []
synonym: "RNASEH2C-RELATED CONDITION" EXACT []
xref: MESH:C563683
is_a: DOID:0050629 ! Aicardi-Goutieres syndrome

[Term]
id: DOID:9008005
name: Postpartum Thyroiditis
def: "Transient autoimmune thyroiditis occurring in the POSTPARTUM PERIOD. It is characterized by the presence of high titers of AUTOANTIBODIES against THYROID PEROXIDASE and THYROGLOBULIN. Clinical signs include the triphasic thyroid hormone pattern: beginning with THYROTOXICOSIS, followed with HYPOTHYROIDISM, then return to euthyroid state by 1 year postpartum." [MESH:D050032]
synonym: "Post-partum Thyroiditides" EXACT []
synonym: "Postpartum Thyroiditides" EXACT []
synonym: "Post partum Thyroiditis" EXACT []
xref: EFO:1001403
xref: MESH:D050032
xref: RDO:0007564
is_a: DOID:7188 ! autoimmune thyroiditis
is_a: DOID:9001791 ! Puerperal Disorders

[Term]
id: DOID:9008007
name: Bagatelle Cassidy Syndrome
synonym: "Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay" EXACT []
synonym: "Macrocephaly short limbs deafness" EXACT []
xref: MESH:C537796
is_a: DOID:225 ! syndrome
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9006380 ! Bilateral Hearing Loss
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9008008
name: Myxomatous Mitral Valve Prolapse 1
alt_id: MIM:157700
synonym: "familial myxomatous valvular disease" EXACT []
synonym: "MITRAL REGURGITATION, FAMILIAL" EXACT []
synonym: "mitral valve prolapse 1" EXACT []
synonym: "MITRAL VALVE PROLAPSE, FAMILIAL" EXACT []
synonym: "Mitral valve prolapse, familial, X-linked" EXACT []
synonym: "MMVP1" EXACT []
synonym: "MVP1" EXACT []
synonym: "MVP PROLAPSED MITRAL VALVE" EXACT []
synonym: "MYXOMATOUS MITRAL VALVE PROLAPSE 1" EXACT []
synonym: "PMV" EXACT []
xref: MESH:C537478
xref: MESH:C563573
is_a: DOID:988 ! mitral valve prolapse

[Term]
id: DOID:9008009
name: Gigantomastia
alt_id: MIM:113670
synonym: "gestational gigantomastia" EXACT []
synonym: "Hypertrophy of the Breast, Juvenile" EXACT []
synonym: "Juvenile gigantomastia" EXACT []
synonym: "macromastia" EXACT []
xref: MESH:C536821
is_a: DOID:9000040 ! Hypertrophy

[Term]
id: DOID:9008010
name: 4-Hydroxyphenylacetic Aciduria
xref: MESH:C535315
xref: RDO:0000362
is_a: DOID:5295 ! intestinal disease

[Term]
id: DOID:9008011
name: Prostate Cancer, Hereditary, X-Linked 2
synonym: "HPCX2" EXACT []
xref: MESH:C567477
xref: MIM:300704
xref: MONDO:0010405
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9005539 ! Familial Prostate Cancer

[Term]
id: DOID:9008012
name: Lysosomal Storage Diseases, Nervous System
def: "A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes." [MESH:D020140]
synonym: "Nervous System Lysosomal Enzyme Disorders" EXACT []
xref: MESH:D020140
is_a: DOID:3211 ! lysosomal storage disease
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn

[Term]
id: DOID:9008013
name: Sporadic Papillary Renal Cell Carcinoma
alt_id: RDO:0004542
synonym: "Papillary renal carcinoma, malignant" EXACT []
synonym: "Papillary renal cell carcinoma, bilateral" EXACT []
synonym: "Papillary renal cell carcinoma, familial" EXACT []
synonym: "Papillary renal cell carcinoma, multiple" EXACT []
xref: MESH:C538614
is_a: DOID:4465 ! papillary renal cell carcinoma

[Term]
id: DOID:9008014
name: Charcot-Marie-Tooth Disease, Dominant Intermediate 1
xref: MESH:C535399
is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type

[Term]
id: DOID:9008015
name: Sandhoff Disease, Adult Type
is_a: DOID:3323 ! Sandhoff disease

[Term]
id: DOID:9008016
name: Pena Shokeir Syndrome Type 2
xref: MESH:C536646
xref: RDO:0002286
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9008017
name: Juvenile Linear Scleroderma
xref: MESH:C543758
is_a: DOID:8472 ! localized scleroderma

[Term]
id: DOID:9008018
name: Nondystrophic Myotonia
xref: MESH:C536245
xref: RDO:0001744
is_a: DOID:9008993 ! Myotonia

[Term]
id: DOID:9008019
name: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY
def: "This disease is an autosomal recessive disorder characterized by abnormal development of the proximal cranial sensory ganglia and nerves, mainly CN V (trigeminal nerve) and CN VIII (vestibulocochlear nerve). Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking. Most patients also have sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII. Developmental delay with poor speech and autistic behavior are also present." [MIM:620469]
synonym: "CCDDRD" EXACT []
xref: MIM:620469
is_a: DOID:10124 ! corneal disease
is_a: DOID:5656 ! cranial nerve disease
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2023-09-14T09:49:47Z

[Term]
id: DOID:9008020
name: Goldstein Hutt Syndrome
synonym: "Long eyelashes, cataract, and hereditary spherocytosis" EXACT []
synonym: "Trichomegaly, cataract, and hereditary spherocytosis" EXACT []
xref: MESH:C537282
xref: RDO:0003096
is_a: DOID:12971 ! hereditary spherocytosis
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract

[Term]
id: DOID:9008021
name: Familial Atrial Fibrillation 10
alt_id: RDO:9000186
synonym: "ATFB10" EXACT []
xref: MIM:614022
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9008022
name: Temporomandibular Joint Osteoarthritis
def: "A progressive, degenerative joint disease of the temporomandibular joint, resulting from biomechanical stress." []
is_a: DOID:8398 ! osteoarthritis
is_a: DOID:9006281 ! Temporomandibular Joint Disorders

[Term]
id: DOID:9008023
name: Memory Disorders
def: "Disturbances in registering an impression, in the retention of an acquired impression, or in the recall of an impression. Memory impairments are associated with DEMENTIA; CRANIOCEREBRAL TRAUMA; ENCEPHALITIS; ALCOHOLISM (see also ALCOHOL AMNESTIC DISORDER); SCHIZOPHRENIA; and other conditions." [MESH:D008569]
synonym: "Age-Related Memory Disorder" EXACT []
synonym: "Age Related Memory Disorders" EXACT []
synonym: "Cognitive Retention Disorder" EXACT []
synonym: "Cognitive Retention Disorders" EXACT []
synonym: "Memory Deficit" EXACT []
synonym: "Memory Deficits" EXACT []
synonym: "Memory Disorder" EXACT []
synonym: "memory impairment" EXACT []
synonym: "MEMORY IMPAIRMENT, SUSCEPTIBILITY TO" RELATED []
synonym: "Memory Loss" EXACT []
synonym: "Memory Losses" EXACT []
synonym: "Semantic Memory Disorder" EXACT []
synonym: "Semantic Memory Disorders" EXACT []
synonym: "Spatial Memory Disorder" EXACT []
synonym: "Spatial Memory Disorders" EXACT []
xref: EFO:0001072
xref: MESH:D008569
is_a: DOID:9002320 ! Neurobehavioral Manifestations

[Term]
id: DOID:9008024
name: Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1
def: "An autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. (OMIM)" []
synonym: "NAXE-RELATED CONDITION" EXACT []
synonym: "PEBEL1" EXACT []
xref: MIM:617186
is_a: DOID:9006901 ! Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy

[Term]
id: DOID:9008025
name: Priapism, Familial Idiopathic
alt_id: MIM:176620
xref: MESH:C531791
is_a: DOID:9286 ! priapism

[Term]
id: DOID:9008026
name: Myopia 3
alt_id: MIM:603221
synonym: "MYOPIA 3, AUTOSOMAL DOMINANT" EXACT []
synonym: "MYP3" EXACT []
xref: MESH:C566397
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9008027
name: Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract
xref: MESH:C566280
xref: MIM:106230
is_a: DOID:12271 ! aniridia
is_a: DOID:83 ! cataract

[Term]
id: DOID:9008028
name: Visceral Heterotaxy 10, Autosomal
def: "Characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Caused by homozygous mutation in the CFAP52 gene on chromosome 17p13." [MIM:619607]
synonym: "autosomal visceral heterotaxy 10 with male infertility" EXACT []
synonym: "HTX10" EXACT []
xref: MIM:619607
is_a: DOID:0050545 ! visceral heterotaxy
is_a: DOID:12336 ! male infertility
created_by: mtutaj
creation_date: 2021-11-09T14:29:59Z

[Term]
id: DOID:9008029
name: Anaplasmataceae Infections
def: "Infections with bacteria of the family ANAPLASMATACEAE." [MESH:D000711]
synonym: "Anaplasmataceae Infection" EXACT []
synonym: "Haemobartonelloses" EXACT []
synonym: "Haemobartonellosis" EXACT []
xref: EFO:1001123
xref: MESH:D000711
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9008031
name: Ataxia-Microcephaly-Cataract Syndrome
alt_id: MIM:208870
synonym: "AMC Syndrome" EXACT []
xref: MESH:C563086
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract
is_a: DOID:9002525 ! Hereditary Eye Diseases
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9008032
name: Gracile Bone Dysplasia
alt_id: MIM:602361
synonym: "FAM111A-RELATED CONDITION" BROAD []
synonym: "GCLEB" EXACT []
synonym: "Habrodysplasia" EXACT []
synonym: "lethal skeletal dysplasia with gracile bones" EXACT []
synonym: "Osteocraniosplenic syndrome" EXACT []
synonym: "Osteocraniostenosis" EXACT []
xref: MESH:C537291
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008033
name: Agammaglobulinemia, Microcephaly, and Severe Dermatitis
alt_id: MIM:610483
xref: MESH:C538055
is_a: DOID:10907 ! microcephaly
is_a: DOID:2583 ! agammaglobulinemia
is_a: DOID:2723 ! dermatitis

[Term]
id: DOID:9008034
name: Bezoars
def: "Concretions of swallowed hair, fruit or vegetable fibers, or similar substances found in the alimentary canal." [MESH:D001630]
synonym: "Bezoar" EXACT []
synonym: "Hair Ball" EXACT []
synonym: "Hair Balls" EXACT []
synonym: "Trichobezoar" EXACT []
synonym: "Trichobezoars" EXACT []
xref: MESH:D001630
xref: RDO:0004989
is_a: DOID:9003074 ! Foreign Bodies

[Term]
id: DOID:9008035
name: Cataract, Autosomal Dominant Nuclear
xref: MESH:C565137
xref: RDO:0013864
is_a: DOID:83 ! cataract

[Term]
id: DOID:9008036
name: Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps
alt_id: MIM:155145
synonym: "median cleft of upper lip with polyps of facial skin and nasal mucosa" EXACT []
synonym: "Pai Levkoff syndrome" EXACT []
synonym: "Pai syndrome" EXACT []
xref: MESH:C536135
is_a: DOID:12270 ! coloboma
is_a: DOID:3315 ! lipoma
is_a: DOID:37 ! skin disease
is_a: DOID:9001472 ! Nasal Polyps
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9008037
name: Paragangliomas 4
synonym: "carotid body tumors and multiple extraadrenal pheochromocytomas" EXACT []
synonym: "familial extraadrenal pheochromocytoma" EXACT []
synonym: "PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL" EXACT []
synonym: "PGL4" EXACT []
synonym: "pheochromocytoma/paraganglioma syndrome 4" EXACT []
synonym: "PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA" EXACT []
synonym: "PPGL4" EXACT []
xref: MIM:115310
is_a: DOID:0050773 ! paraganglioma

[Term]
id: DOID:9008038
name: Digestive System Fistula
def: "An abnormal passage communicating between any components of the digestive system, or between any part of the digestive system and surrounding organ(s)." [MESH:D016154]
synonym: "Digestive System Fistulas" EXACT []
xref: MESH:D016154
xref: RDO:0005000
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9007343 ! Fistula

[Term]
id: DOID:9008039
name: Cerebrospinal Fluid Rhinorrhea
def: "Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)" [MESH:D002559]
synonym: "Cerebrospinal Fluid Rhinorrheas" EXACT []
synonym: "Cerebrospinal Rhinorrhea" EXACT []
synonym: "Cerebrospinal Rhinorrheas" EXACT []
synonym: "CSF Rhinorrhea" EXACT []
synonym: "CSF Rhinorrheas" EXACT []
synonym: "Post Traumatic Cerebrospinal Fluid Rhinorrhea" EXACT []
synonym: "Spontaneous Cerebrospinal Fluid Rhinorrhea" EXACT []
synonym: "Traumatic Cerebrospinal Fluid Rhinorrhea" EXACT []
xref: MESH:D002559
xref: RDO:0003871
is_a: DOID:9002965 ! Cerebrospinal Fluid Leak

[Term]
id: DOID:9008040
name: Kallmann Syndrome 2 with Bimanual Synkinesia
xref: MESH:C563652
is_a: DOID:0090083 ! hypogonadotropic hypogonadism 2 with or without anosmia
is_a: DOID:9005416 ! Synkinesis

[Term]
id: DOID:9008041
name: Ovarian Gynandroblastoma
xref: EFO:1000422
xref: MESH:C538459
xref: RDO:0004422
is_a: DOID:192 ! sex cord-gonadal stromal tumor

[Term]
id: DOID:9008042
name: Minimal Pigment Type Albinism
synonym: "Oculocutaneous albinism, minimal pigment type" EXACT []
xref: MESH:C537044
is_a: DOID:0050632 ! oculocutaneous albinism

[Term]
id: DOID:9008043
name: Chromosome 15 Ring
synonym: "Ring 15, Chromosome (mosaic pattern)" EXACT []
xref: MESH:C538035
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9008044
name: Generalized Elastolysis
xref: MESH:C531660
xref: RDO:0000087
is_a: DOID:3144 ! cutis laxa

[Term]
id: DOID:9008045
name: Pachyonychia Congenita Recessive
alt_id: MIM:260130
alt_id: RDO:0004029
synonym: "Autosomal recessive pachyonychia congenita" EXACT []
xref: MESH:C538094
is_a: DOID:0050449 ! pachyonychia congenita

[Term]
id: DOID:9008046
name: Neoplasms, Hormone-Dependent
def: "Certain tumors that 1, arise in organs that are normally dependent on specific hormones and 2, are stimulated or caused to regress by manipulation of the endocrine environment." [MESH:D009376]
synonym: "Hormone-Dependent Neoplasm" EXACT []
xref: MESH:D009376
xref: RDO:0006197
is_a: DOID:14566 ! disease of cellular proliferation

[Term]
id: DOID:9008048
name: Faye-Petersen Ward Carey Syndrome
xref: MESH:C537076
is_a: DOID:10763 ! hypertension
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9001999 ! Agenesis of Corpus Callosum

[Term]
id: DOID:9008049
name: Corneal Dystrophy, Fuchs Endothelial, 3
alt_id: MIM:613267
synonym: "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET" EXACT []
synonym: "FCD2 LOCUS" EXACT []
synonym: "FECD3" EXACT []
xref: MESH:C567678
is_a: DOID:11555 ! Fuchs' endothelial dystrophy

[Term]
id: DOID:9008050
name: Familial Primary Biliary Cirrhosis
xref: MESH:C538544
is_a: DOID:12236 ! primary biliary cholangitis

[Term]
id: DOID:9008051
name: Luscan-Lumish Syndrome
synonym: "LLS" EXACT []
xref: MIM:616831
is_a: DOID:0060041 ! autism spectrum disorder
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9005466 ! Language Development Disorders
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9008052
name: Permanent Neonatal Diabetes Mellitus, with Neurologic Features
xref: MESH:C563424
is_a: DOID:0060639 ! permanent neonatal diabetes mellitus
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9008053
name: Embryonal Rhabdomyosarcoma 2
alt_id: MIM:180295
synonym: "RMSE2" EXACT []
xref: MESH:C566709
is_a: DOID:3246 ! embryonal rhabdomyosarcoma

[Term]
id: DOID:9008054
name: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA
def: "This disease is an autosomal recessive systemic disorder characterized by the development of painless fixed contractures of the joints in early childhood. There is evidence of abnormal chondrocyte homeostasis, resulting in contractures, osteopenia, and the development of osteochondromas. Laboratory studies show abnormal levels and function of B- and T-cell subsets, and patients can develop B-cell lymphomas or malignancies." [MIM:620232]
synonym: "JCOSL" EXACT []
synonym: "NFAT1 DEFICIENCY" EXACT []
xref: MIM:620232
is_a: DOID:707 ! B-cell lymphoma
is_a: DOID:9005193 ! Osteochondroma
is_a: DOID:9006836 ! Contracture
created_by: slaulede
creation_date: 2023-04-28T14:41:21Z

[Term]
id: DOID:9008055
name: Dental Fistula
def: "An abnormal passage in the oral cavity on the gingiva." [MESH:D003751]
synonym: "Dental Fistulas" EXACT []
synonym: "Gingival Fistula" EXACT []
synonym: "Gingival Fistulas" EXACT []
xref: MESH:D003751
is_a: DOID:9008436 ! Oral Fistula

[Term]
id: DOID:9008056
name: Acantholysis
def: "Separation of the prickle cells of the stratum spinosum of the epidermis, resulting in atrophy of the prickle cell layer. It is seen in diseases such as pemphigus vulgaris (see PEMPHIGUS) and DARIER DISEASE." [MESH:D000051]
synonym: "Acantholyses" EXACT []
xref: MESH:D000051
is_a: DOID:2731 ! vesiculobullous skin disease
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9008057
name: Dystonia Musculorum Deformans
def: "A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)" [MESH:D004422]
synonym: "childhood torsion disease" EXACT []
synonym: "dystonia deformans progressiva" EXACT []
synonym: "Dystonias, Torsion" EXACT []
synonym: "Idiopathic Torsion Dystonia" EXACT []
synonym: "idiopathic torsion dystonias" EXACT []
synonym: "Oppenheim Ziehen Disease" EXACT []
synonym: "progressive torsion spasm" EXACT []
synonym: "torsion disease of childhood" EXACT []
synonym: "torsion dystonia" EXACT []
xref: MESH:D004422
is_a: DOID:0050835 ! generalized dystonia
is_a: DOID:679 ! basal ganglia disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:9008058
name: Neuroblastic Tumor
def: "This neoplasm is part of a group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." [NCI:C6963]
xref: EFO:1000393
is_a: DOID:9007058 ! Primitive Peripheral Neuroectodermal Tumors
created_by: slaulede
creation_date: 2023-01-05T12:31:49Z

[Term]
id: DOID:9008059
name: Radiation Induced Angiosarcoma of the Breast
synonym: "Post-irradiation angiosarcoma of the breast" EXACT []
xref: MESH:C536264
xref: RDO:0001773
is_a: DOID:0001816 ! angiosarcoma
is_a: DOID:9000277 ! Radiation-Induced Neoplasms
is_a: DOID:9008939 ! Breast Neoplasms

[Term]
id: DOID:9008060
name: Ulnar/Fibular Ray Defect and Brachydactyly
alt_id: MIM:608571
xref: MESH:C563905
is_a: DOID:0050581 ! brachydactyly

[Term]
id: DOID:9008061
name: Ciliary Dyskinesia with Transposition of Ciliary Microtubules
alt_id: MIM:215520
xref: MESH:C567137
is_a: DOID:9001591 ! Ciliary Motility Disorders

[Term]
id: DOID:9008062
name: Hypogonadism with Low-Grade Mental Deficiency and Microcephaly
alt_id: MIM:241000
xref: MESH:C565482
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:1924 ! hypogonadism

[Term]
id: DOID:9008063
name: Chromosome 5, Trisomy 5q
synonym: "5Q35 MICRODUPLICATION SYNDROME" EXACT []
synonym: "Duplication 5q" EXACT []
synonym: "Trisomy 5q" EXACT []
xref: MESH:C537650
xref: RDO:0003527
is_a: DOID:12580 ! Cri-du-Chat syndrome
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9008064
name: Littoral Cell Angioma of the Spleen
synonym: "Littoral cell angioma" EXACT []
xref: MESH:C537031
xref: RDO:0002786
is_a: DOID:255 ! hemangioma
is_a: DOID:9005343 ! Splenic Neoplasms

[Term]
id: DOID:9008065
name: Adenoameloblastoma
synonym: "adenomatoid ameloblastoma" EXACT []
synonym: "adenomatoid odontogenic tumor" EXACT []
synonym: "pleomorphic adenomatoid tumor" EXACT []
xref: EFO:1000072
xref: MESH:C538229
is_a: DOID:0050894 ! ameloblastoma

[Term]
id: DOID:9008066
name: Posterior Choanal Atresia
alt_id: MIM:608911
xref: MESH:C562435
is_a: DOID:9574 ! choanal atresia

[Term]
id: DOID:9008067
name: Toxemia
def: "A condition produced by the presence of toxins or other harmful substances in the BLOOD." [MESH:D014115]
synonym: "Toxemias" EXACT []
xref: MESH:D014115
xref: RDO:0006726
is_a: DOID:9004384 ! Bacterial Infections and Mycoses

[Term]
id: DOID:9008068
name: Hyperbiliverdinemia
synonym: "GREEN JAUNDICE" EXACT []
synonym: "HBLVD" EXACT []
xref: MIM:614156
is_a: DOID:9004898 ! Jaundice

[Term]
id: DOID:9008069
name: Ben Ari Shuper Mimouni Syndrome
xref: MESH:C535427
is_a: DOID:225 ! syndrome
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008070
name: Short-Rib Thoracic Dysplasia 21 without Polydactyly
def: "Characterized by rhizomelic limb shortening with bowing of long bones and metaphyseal abnormalities, narrow chest with short broad ribs, and trident pelvis. Caused by homozygous or compound heterozygous mutation in the KIAA0753 gene on chromosome 17p13. (OMIM)" []
synonym: "SRTD21" EXACT []
xref: MIM:619479
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
created_by: mtutaj
creation_date: 2021-08-25T09:45:07Z

[Term]
id: DOID:9008072
name: Cystic Adenomatoid Malformation of Lung, Congenital
def: "An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal BRONCHIOLES with a consequent reduction of PULMONARY ALVEOLI. This anomaly is classified into three types by the cyst size." [MESH:D015615]
synonym: "Congenital Cystic Adenomatoid Malformation" EXACT []
synonym: "Congenital Cystic Adenomatoid Malformation, Type 1" EXACT []
synonym: "Congenital Cystic Adenomatoid Malformation, Type 2" EXACT []
synonym: "Congenital Cystic Adenomatoid Malformation, Type 3" EXACT []
synonym: "Congenital Cystic Adenomatoid Malformation, Type I" EXACT []
synonym: "Congenital Cystic Adenomatoid Malformation, Type II" EXACT []
synonym: "Congenital Cystic Adenomatoid Malformation, Type III" EXACT []
synonym: "Cystic Adenomatoid Malformation of Lung" EXACT []
synonym: "Lung Malformation, Congenital Cystic Adenomatoid" EXACT []
xref: MESH:D015615
xref: RDO:0006908
is_a: DOID:850 ! lung disease
is_a: DOID:9007870 ! Respiratory System Abnormalities

[Term]
id: DOID:9008073
name: PORETTI-BOLTSHAUSER SYNDROME
def: "An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. (OMIM)" []
synonym: "LAMA1-RELATED CONDITION" EXACT []
synonym: "PTBHS" EXACT []
xref: MIM:615960
xref: RDO:9001523
is_a: DOID:225 ! syndrome
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:9002525 ! Hereditary Eye Diseases
created_by: rgd
creation_date: 2017-03-30T00:00:00Z

[Term]
id: DOID:9008075
name: Encephalopathy, Spastic Tetraparesis, and Hypogonadism
xref: MESH:C565722
xref: RDO:0014281
is_a: DOID:1924 ! hypogonadism
is_a: DOID:9002079 ! Paresis
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9007428 ! Muscle Spasticity

[Term]
id: DOID:9008076
name: clavicle fractures
def: "This is a traumatic or pathologic injury to the clavicle in which the continuity of the clavicle is broken." [NCI:C26987]
synonym: "clavicle fracture" EXACT []
xref: EFO:0009614
is_a: DOID:9002589 ! Bone Fractures
created_by: slaulede
creation_date: 2023-02-20T17:59:32Z

[Term]
id: DOID:9008077
name: Aase Smith Syndrome
alt_id: MIM:147800
synonym: "Aase-Smith Syndrome I" EXACT []
synonym: "Hydrocephalus cleft palate joint contractures" EXACT []
synonym: "Joint contractures with other abnormalities" EXACT []
xref: MESH:C535332
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008078
name: Cavernous Malformations of CNS and Retina
xref: MESH:C566152
xref: RDO:0014593
is_a: DOID:9003443 ! Central Nervous System Vascular Malformations

[Term]
id: DOID:9008079
name: Neurasthenia
def: "A mental disorder characterized by chronic fatigue and concomitant physiologic symptoms." [MESH:D009440]
synonym: "Neurasthenic Neuroses" EXACT []
xref: MESH:D009440
xref: RDO:0006202
is_a: DOID:4737 ! somatoform disorder

[Term]
id: DOID:9008080
name: Hemic and Lymphatic Diseases
def: "Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes." [MESH:D006425]
subset: RGD_JBrowse_slim
xref: MESH:D006425
is_a: DOID:7 ! disease of anatomical entity

[Term]
id: DOID:9008081
name: Acute Brachial Neuritis
alt_id: RDO:0004547
synonym: "acute brachial neuritis syndrome" EXACT []
synonym: "acute brachial radiculitis syndrome" EXACT []
synonym: "acute shoulder neuritis" EXACT []
xref: MESH:C538620
is_a: DOID:3689 ! brachial plexus neuritis

[Term]
id: DOID:9008082
name: Plagiocephaly, Nonsynostotic
def: "A deformity of the SKULL that is not due to bone fusion (SYNOSTOSIS), such as craniosynostoses, and is characterized by an asymmetric skull and face. It is observed with an increased frequency in INFANTS after the adoption of supine sleeping recommendations to prevent SUDDEN INFANT DEATH SYNDROME." [MESH:D049068]
synonym: "Deformational Plagiocephalies" EXACT []
synonym: "Deformational Plagiocephaly" EXACT []
synonym: "Positional Plagiocephalies" EXACT []
synonym: "Positional Plagiocephaly" EXACT []
xref: MESH:D049068
xref: RDO:0007553
is_a: DOID:9009021 ! Plagiocephaly

[Term]
id: DOID:9008084
name: Metaphyseal Chondrodysplasia, Pena Type
alt_id: MIM:250300
xref: MESH:C565399
is_a: DOID:9000073 ! Metaphyseal Chondrodysplasia

[Term]
id: DOID:9008085
name: Cataracts, Ataxia, Short Stature, and Mental Retardation
alt_id: MIM:300619
synonym: "CASM syndrome" EXACT []
synonym: "CATARACT, ATAXIA, SHORT STATURE, AND IMPAIRED INTELLECTUAL DEVELOPMENT" EXACT []
synonym: "cataract, ataxia, short stature, and mental retardation" EXACT []
xref: MESH:C535345
is_a: DOID:1059 ! intellectual disability
is_a: DOID:83 ! cataract
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9008086
name: Developmental Disabilities
def: "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" [MESH:D002658]
synonym: "Child Development Deviation" EXACT []
synonym: "Child Development Deviations" EXACT []
synonym: "Child Development Disorder" EXACT []
synonym: "Child Development Disorders" EXACT []
synonym: "Child Development Disorders, Specific" EXACT []
synonym: "DEVELOPMENTAL DELAY" EXACT []
synonym: "Developmental Delay Disorder" EXACT []
synonym: "Developmental Delay Disorders" EXACT []
synonym: "Developmental Disability" EXACT []
synonym: "Global developmental delay" EXACT []
xref: EFO:0003852
xref: MESH:D002658
xref: NCI:C116942
xref: RDO:0000673
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:9008087
name: Chromosome 18 Pericentric Inversion
alt_id: MIM:609334
xref: MESH:C563734
is_a: DOID:1059 ! intellectual disability
is_a: DOID:150 ! disease of mental health
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008088
name: Neonatal Inflammatory Skin and Bowel Disease
synonym: "NISBD" EXACT []
is_a: DOID:0050589 ! inflammatory bowel disease
is_a: DOID:2723 ! dermatitis
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9008090
name: Chlamydiaceae Infections
def: "Infections with bacteria of the family CHLAMYDIACEAE." [MESH:D002694]
synonym: "Chlamydiaceae Infection" EXACT []
xref: EFO:1001288
xref: MESH:D002694
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9008091
name: Optic Nerve Injuries
def: "Injuries to the optic nerve induced by a trauma to the face or head. These may occur with closed or penetrating injuries. Relatively minor compression of the superior aspect of orbit may also result in trauma to the optic nerve. Clinical manifestations may include visual loss, PAPILLEDEMA, and an afferent pupillary defect." [MESH:D020221]
synonym: "Cranial Nerve II Injuries" EXACT []
synonym: "Optic Nerve Avulsion" EXACT []
synonym: "Optic Nerve Avulsions" EXACT []
synonym: "Optic Nerve Contusion" EXACT []
synonym: "Optic Nerve Contusions" EXACT []
synonym: "Optic Nerve Injury" EXACT []
synonym: "Optic Nerve Transection" EXACT []
synonym: "Optic Nerve Transections" EXACT []
synonym: "Optic Nerve Trauma" EXACT []
synonym: "Optic Nerve Traumas" EXACT []
synonym: "Second Cranial Nerve Injuries" EXACT []
synonym: "Second Cranial Nerve Trauma" EXACT []
synonym: "TON" EXACT []
synonym: "Traumatic Optic Neuropathies" EXACT []
synonym: "Traumatic Optic Neuropathy" EXACT []
xref: MESH:D020221
xref: RDO:0007358
is_a: DOID:1891 ! optic nerve disease
is_a: DOID:9000598 ! Cranial Nerve Injuries

[Term]
id: DOID:9008092
name: Visceral Prolapse
def: "The prolapse or downward displacement of the VISCERA." [MESH:D014782]
synonym: "Splanchnoptosis" EXACT []
synonym: "Visceroptosis" EXACT []
xref: MESH:D014782
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9008409 ! Pelvic Organ Prolapse

[Term]
id: DOID:9008093
name: Immunodeficiency 81
def: "An autosomal recessive complex disorder with onset of recurrent infections, including fungal infections, in early infancy, associated with T-cell, neutrophil, and NK dysfunction. Caused by homozygous mutation in the SLP76 gene (LCP2) on chromosome 5q33. (OMIM)" []
synonym: "IMD81" EXACT []
xref: MIM:619374
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2021-06-23T11:18:27Z

[Term]
id: DOID:9008094
name: Multifocal Fibrosclerosis
alt_id: MIM:228800
synonym: "Mediastinal fibrosis, familial" EXACT []
synonym: "Retroperitoneal fibrosis, familial" EXACT []
xref: MESH:C537375
is_a: DOID:9005176 ! Retroperitoneal Fibrosis

[Term]
id: DOID:9008095
name: Hereditary Central Nervous System Demyelinating Diseases
alt_id: OMIA:001130
def: "Inherited conditions characterized by a loss of MYELIN in the central nervous system." [MESH:D020279]
synonym: "leucodystrophy" EXACT []
xref: MESH:D020279
is_a: DOID:3213 ! demyelinating disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn

[Term]
id: DOID:9008096
name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS
def: "This disease is an X-liked recessive disorder characterized by global developmental delay, early-onset seizures, and progressive systemic iron deposition particularly affecting the liver and resulting in juvenile-onset hemochromatosis." [MIM:301072]
synonym: "FCCS" EXACT []
synonym: "FERRO-CEREBRO-CUTANEOUS SYNDROME" EXACT []
synonym: "NEDEPH" EXACT []
xref: MIM:301072
is_a: DOID:1826 ! epilepsy
is_a: DOID:2352 ! hemochromatosis
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2022-06-30T10:10:32Z

[Term]
id: DOID:9008097
name: Whistling Face Syndrome, Recessive Form
xref: MESH:C536699
xref: RDO:0002355
is_a: DOID:2339 ! Crouzon syndrome

[Term]
id: DOID:9008098
name: Hantavirosis
synonym: "Hantavirus fever" EXACT []
xref: MESH:C535630
is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome

[Term]
id: DOID:9008099
name: Granulosis Rubra Nasi
alt_id: MIM:139000
xref: MESH:C562483
is_a: DOID:9004062 ! Hyperhidrosis
is_a: DOID:9008246 ! Papulosquamous Skin Diseases

[Term]
id: DOID:9008101
name: Flynn Aird Syndrome
alt_id: MIM:136300
def: "A rare, hereditary, neurological disease that is inherited in an autosomal dominant fashion. [Wikipedia]" []
xref: MESH:C537066
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:216 ! dental caries
is_a: DOID:225 ! syndrome
is_a: DOID:331 ! central nervous system disease
is_a: DOID:37 ! skin disease
is_a: DOID:381 ! arthropathy
is_a: DOID:83 ! cataract

[Term]
id: DOID:9008102
name: FACES Syndrome
xref: MESH:C536384
is_a: DOID:225 ! syndrome
is_a: DOID:37 ! skin disease
is_a: DOID:9001109 ! Anorexia
is_a: DOID:9001487 ! Facies
is_a: DOID:9007346 ! Cachexia
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9008103
name: Seasonal Allergic Rhinitis
def: "Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS." [MESH:D006255]
synonym: "hay fever" EXACT []
synonym: "hayfever" EXACT []
synonym: "pollinoses" EXACT []
synonym: "pollinosis" EXACT []
synonym: "seasonal allergic rhinitides" EXACT []
xref: EFO:0003956
xref: MESH:D006255
is_a: DOID:4481 ! allergic rhinitis

[Term]
id: DOID:9008104
name: Cancer Pain
def: "Pain that may be caused by or related to cellular, tissue, and systemic changes that occur during NEOPLASM growth, tissue invasion, and METASTASIS." [MESH:D000072716]
synonym: "Cancer Associated Pain" EXACT []
synonym: "Cancer-Associated Pains" EXACT []
synonym: "Cancer Pains" EXACT []
synonym: "Cancer Related Pain" EXACT []
synonym: "Cancer-Related Pains" EXACT []
synonym: "Neoplasm Associated Pain" EXACT []
synonym: "Neoplasm-Associated Pains" EXACT []
synonym: "Neoplasm Related Pain" EXACT []
synonym: "Neoplasm-Related Pains" EXACT []
synonym: "Oncological Pain" EXACT []
synonym: "Oncological Pains" EXACT []
synonym: "Oncology Pain" EXACT []
synonym: "Oncology Pains" EXACT []
synonym: "Tumor Associated Pain" EXACT []
synonym: "Tumor-Associated Pains" EXACT []
synonym: "Tumor Related Pain" EXACT []
synonym: "Tumor-Related Pains" EXACT []
xref: MESH:D000072716
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9008105
name: Cystic, Mucinous, and Serous Neoplasms
def: "Neoplasms containing cyst-like formations or producing mucin or serum." [MESH:D018297]
synonym: "Papillary Cystic Neoplasm" NARROW []
xref: EFO:1000448
xref: EFO:1000889
xref: MESH:D018297
is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms

[Term]
id: DOID:9008106
name: Vaccine-Preventable Diseases
def: "Diseases for which vaccines exist that can confer partial or complete protection." [MESH:D000079263]
synonym: "Vaccine Preventable Diseases" EXACT []
xref: MESH:D000079263
is_a: DOID:0050117 ! disease by infectious agent
created_by: slaulede
creation_date: 2020-02-07T14:40:43Z

[Term]
id: DOID:9008107
name: Microcephaly with Mental Retardation and Digital Anomalies
alt_id: MIM:251255
synonym: "Jawad syndrome" EXACT []
synonym: "JWDS" EXACT []
synonym: "Kelly syndrome" EXACT []
synonym: "RBBP8-related disorder" BROAD []
synonym: "RBBP8-related disorders" BROAD []
xref: MESH:C567101
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9008108
name: Mallory-Weiss Syndrome
def: "A condition characterized by mucosal tears at the ESOPHAGOGASTRIC JUNCTION, sometimes with HEMATEMESIS. Typically it is caused by forceful bouts of retching or VOMITING." [MESH:D008309]
synonym: "Gastroesophageal Laceration Hemorrhage" EXACT []
synonym: "Gastroesophageal Laceration-Hemorrhages" EXACT []
synonym: "Mallory Weiss Laceration" EXACT []
synonym: "Mallory Weiss Tear" EXACT []
synonym: "Mucosal Lacerations Gastroesophageal Junction" EXACT []
synonym: "Mucosal Lacerations-Gastroesophageal Junctions" EXACT []
xref: MESH:D008309
xref: RDO:0006054
is_a: DOID:225 ! syndrome
is_a: DOID:9001148 ! Esophageal Perforation

[Term]
id: DOID:9008109
name: Sebocystomatosis
xref: MESH:C580471
is_a: DOID:0111556 ! steatocystoma multiplex

[Term]
id: DOID:9008110
name: Blister
def: "Visible accumulations of fluid within or beneath the epidermis." [MESH:D001768]
synonym: "Bleb" EXACT []
synonym: "Blebs" EXACT []
synonym: "Blisters" EXACT []
synonym: "Bulla" EXACT []
synonym: "Bullae" EXACT []
synonym: "Bullous Lesion" EXACT []
synonym: "Bullous Lesions" EXACT []
synonym: "Vesication" EXACT []
synonym: "Vesications" EXACT []
xref: MESH:D001768
is_a: DOID:2731 ! vesiculobullous skin disease
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9008111
name: Metatropic Dwarfism, Type II
synonym: "Metatropic dwarfism, type 2" EXACT []
synonym: "Metatropic dysplasia 2" EXACT []
synonym: "Metatropic Dysplasia Type II" EXACT []
xref: MESH:C581628
xref: RDO:0015940
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9008112
name: Ventricular Fibrillation, Paroxysmal Familial, 1
alt_id: MIM:603829
synonym: "VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, TYPE 1" EXACT []
synonym: "VF1" EXACT []
synonym: "VF1 VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY" RELATED []
xref: MESH:C567851
xref: RDO:0012065
is_a: DOID:9004416 ! Paroxysmal Ventricular Fibrillation

[Term]
id: DOID:9008113
name: Tissue Adhesions
def: "Pathological processes consisting of the union of the opposing surfaces of a wound." [MESH:D000267]
synonym: "Surgery-Induced Tissue Adhesion" EXACT []
synonym: "surgery induced tissue adhesions" EXACT []
synonym: "Surgical Adhesion" EXACT []
synonym: "Surgical Adhesions" EXACT []
synonym: "tissue adhesion" EXACT []
xref: MESH:D000267
is_a: DOID:9004739 ! Cicatrix

[Term]
id: DOID:9008114
name: Helicobacter Infections
alt_id: MIM:600263
def: "Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." [MESH:D016481]
synonym: "Helicobacter Infection" EXACT []
synonym: "HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO" RELATED []
xref: EFO:1000961
xref: MESH:D016481
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9008115
name: Abdominal Abscess
def: "An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)" [MESH:D018784]
synonym: "Abdominal Abscesses" EXACT []
synonym: "Intra-Abdominal Abscess" EXACT []
synonym: "Intra-Abdominal Abscesses" EXACT []
xref: EFO:1001753
xref: MESH:D018784
is_a: DOID:9000325 ! Abscess

[Term]
id: DOID:9008116
name: Microcephaly Nonsyndromal
synonym: "Nonsyndromic microcephaly" EXACT []
xref: MESH:C537542
xref: RDO:0003401
is_a: DOID:10907 ! microcephaly

[Term]
id: DOID:9008117
name: Central Auditory Diseases
alt_id: RDO:0004945
def: "Disorders of hearing or auditory perception due to pathological processes of the AUDITORY PATHWAYS in the CENTRAL NERVOUS SYSTEM. These include CENTRAL HEARING LOSS and AUDITORY PERCEPTUAL DISORDERS." [MESH:D001304]
synonym: "auditory cortex disorder" EXACT []
synonym: "Auditory Cortex Disorders" EXACT []
synonym: "Central Auditory Disease" EXACT []
synonym: "Central Auditory Dysfunction" EXACT []
synonym: "central auditory dysfunctions" EXACT []
synonym: "Central Auditory Pathway Disorders" EXACT []
xref: MESH:D001304
is_a: DOID:2889 ! retrocochlear disease
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9008118
name: Neuraminidase Deficiency
alt_id: MIM:256550
synonym: "CHERRY RED SPOT--MYOCLONUS SYNDROME" NARROW []
synonym: "glycoprotein neuraminidase deficiency" EXACT []
synonym: "lipomucopolysaccharidosis" EXACT []
synonym: "ML I" EXACT []
synonym: "mucolipidoses type I" EXACT []
synonym: "mucolipidosis I" EXACT []
synonym: "Mucolipidosis type 1" EXACT []
synonym: "mucolipidosis type I" EXACT []
synonym: "Neu1 Deficiency" EXACT []
synonym: "Neu Deficiency" EXACT []
synonym: "Neug Deficiency" EXACT []
synonym: "neuraminidase 1 deficiency" EXACT []
synonym: "Sialidase deficiency" EXACT []
synonym: "Sialidoses, type 2" EXACT []
synonym: "Sialidosis, Type I" EXACT []
synonym: "sialidosis, type II" EXACT []
xref: MESH:C537366
xref: MONDO:0017734
xref: NCI:C125596
xref: ORDO:309294
is_a: DOID:3343 ! glycoproteinosis

[Term]
id: DOID:9008119
name: Vertebral, Cardiac, Renal, and Limb Defects Syndromes
synonym: "vertebral, cardiac, renal, and limb defects syndrome" EXACT []
xref: MIM:PS617660
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: mtutaj
creation_date: 2020-05-07T11:16:20Z

[Term]
id: DOID:9008120
name: Orotic Aciduria II
synonym: "OMP Decarboxylase Deficiency" EXACT []
synonym: "Orotidylic Decarboxylase Deficiency" EXACT []
xref: MESH:C562589
is_a: DOID:653 ! purine-pyrimidine metabolic disorder

[Term]
id: DOID:9008121
name: Lipoyltransferase 1 Deficiency
synonym: "LIPT1D" EXACT []
xref: MIM:616299
xref: ORDO:401862
is_a: DOID:3652 ! Leigh disease
created_by: rgd
creation_date: 2015-06-18T00:00:00Z

[Term]
id: DOID:9008122
name: ISOLATED HYPERFERRITINEMIA
def: "This disease is an autosomal recessive condition characterized by increased serum ferritin levels in the absence of iron overload or other clinical symptoms." [MIM:620729]
synonym: "HRFT" EXACT []
synonym: "HYPERFERRITINEMIA" BROAD []
xref: MIM:620729
is_a: DOID:9001887 ! Hyperferritinemia
created_by: slaulederkind
creation_date: 2024-05-23T13:54:40Z

[Term]
id: DOID:9008123
name: Bleeding Disorder, Vascular-Type
def: "An autosomal dominant condition characterized by spontaneous episodic bleeding usually beginning in childhood. Caused by heterozygous mutation in the APOLD1 gene on chromosome 12p13." [MIM:620715]
synonym: "BDVAS" EXACT []
xref: MIM:620715
is_a: DOID:1247 ! blood coagulation disease
created_by: tutajm
creation_date: 2024-02-19T14:38:10Z

[Term]
id: DOID:9008124
name: Congenital Absence of Gluteal Muscles
alt_id: MIM:231970
synonym: "absence of gluteal muscles" EXACT []
xref: MESH:C535561
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9008126
name: Cerebellar, Ocular, Craniofacial, and Genital Syndrome
def: "A disease characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment." []
synonym: "COFG" EXACT []
xref: MIM:618479
is_a: DOID:15 ! reproductive system disease
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:5614 ! eye disease
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: slaulede
creation_date: 2019-09-10T15:04:47Z

[Term]
id: DOID:9008128
name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM
def: "This disease is characterized by global developmental delay, poor overall growth, severely impaired motor development with hypotonia and/or ataxia, and dysmorphic facial features. Affected individuals have impaired intellectual development, which can be severe." [MIM:620719]
synonym: "NEDMSF" EXACT []
synonym: "PUM1-RELATED CONDITION" BROAD []
xref: MIM:620719
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008297 ! Motor Disorders
created_by: mahimavedi
creation_date: 2024-03-04T13:41:56Z

[Term]
id: DOID:9008129
name: Manz Syndrome
synonym: "Familial hypomagnesemia - hypercalciuria" EXACT []
xref: MESH:C535709
is_a: DOID:0060879 ! primary hypomagnesemia
is_a: DOID:12679 ! nephrocalcinosis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9008130
name: Hordnes Engebretsen Knudtson syndrome
xref: MESH:C536067
xref: RDO:0001488
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:6420 ! pulmonary valve stenosis
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008131
name: Parietal Foramina 2
alt_id: MIM:609597
synonym: "PFM2" EXACT []
xref: MESH:C566510
is_a: DOID:0060285 ! parietal foramina

[Term]
id: DOID:9008132
name: Brittle Bone Disorder
alt_id: MIM:603828
xref: MESH:C565842
is_a: DOID:0080006 ! bone development disease

[Term]
id: DOID:9008133
name: Glaucoma 1, Open Angle, G
alt_id: MIM:609887
synonym: "GLC1G" EXACT []
synonym: "WDR36-RELATED CONDITION" EXACT []
xref: MESH:C563692
is_a: DOID:1070 ! primary open angle glaucoma

[Term]
id: DOID:9008134
name: Pectoralis Muscle, Absence of
xref: MESH:C566793
xref: RDO:0015039
is_a: DOID:0080000 ! muscular disease

[Term]
id: DOID:9008135
name: Bacterial Zoonoses
def: "Bacterial infections that may be transmitted between non-human animals and HUMANS. (MESH)" []
synonym: "Bacterial Zoonosis" EXACT []
synonym: "Bacterial Zoonotic Diseases" EXACT []
synonym: "Bacterial Zoonotic Infections" EXACT []
synonym: "Bacterial Zoonotic Spillover" EXACT []
xref: MESH:D000086966
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:9002781 ! Zoonoses
created_by: mtutaj
creation_date: 2020-12-21T20:31:36Z

[Term]
id: DOID:9008136
name: Pilarowski-Bjornsson Syndrome
def: "An autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. (OMIM)" []
synonym: "developmental delay and speech apraxia with or without seizures" EXACT []
synonym: "PILBOS" EXACT []
xref: MIM:617682
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2017-12-06T00:00:00Z

[Term]
id: DOID:9008137
name: Apical Hypertrophic Cardiomyopathy and Neuropathy
xref: MIM:516070
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9006306 ! Apical Hypertrophic Cardiomyopathy
created_by: rgd
creation_date: 2015-07-14T00:00:00Z

[Term]
id: DOID:9008138
name: Ductal Carcinoma
def: "Malignant neoplasms involving the ductal systems of any of a number of organs, such as the MAMMARY GLANDS, the PANCREAS, the PROSTATE, or the LACRIMAL GLAND." []
synonym: "ductal carcinomas" EXACT []
xref: MESH:D044584
is_a: DOID:299 ! adenocarcinoma
is_a: DOID:9008490 ! Ductal, Lobular, and Medullary Neoplasms

[Term]
id: DOID:9008139
name: Alport Syndrome-Like Hereditary Nephritis
xref: MESH:C562890
xref: RDO:0012416
is_a: DOID:10983 ! Alport syndrome

[Term]
id: DOID:9008140
name: CAHMR Syndrome
alt_id: MIM:211770
synonym: "Cataract, Hypertrichosis, Mental Retardation syndrome" EXACT []
xref: MESH:C537959
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:420 ! hypertrichosis
is_a: DOID:83 ! cataract

[Term]
id: DOID:9008142
name: Kallmann Syndrome 6
xref: MESH:C567199
is_a: DOID:3614 ! Kallmann syndrome

[Term]
id: DOID:9008143
name: Deal Barratt Dillon Syndrome
synonym: "Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea" EXACT []
xref: MESH:C538206
xref: RDO:0004149
is_a: DOID:1062 ! Fanconi syndrome
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome
is_a: DOID:9004898 ! Jaundice
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9008144
name: Chromosome 1, Deletion q21 q25
synonym: "Deletion 1q21 q25" EXACT []
synonym: "Monosomy 1q21 q25" EXACT []
xref: MESH:C535363
xref: RDO:0000445
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9008145
name: Retinitis Pigmentosa 95
def: "A disease characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation. Caused by homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13." [MIM:620102]
synonym: "RP95" EXACT []
xref: MIM:620102
is_a: DOID:10584 ! retinitis pigmentosa
created_by: mtutaj
creation_date: 2022-10-27T13:28:52Z

[Term]
id: DOID:9008146
name: Alopecia, Epilepsy, Pyorrhea, Mental Subnormality
alt_id: MIM:104130
synonym: "Adolescent alopecia, dentogingival abnormalities and intellectual disability" NARROW []
synonym: "Alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality" EXACT []
synonym: "Congenital universal alopecia, epilepsy, mental subnormality and pyorrhea" EXACT []
synonym: "Shokeir syndrome" EXACT []
xref: MESH:C537057
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9008147
name: Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma
def: "CAPOK syndrome is characterized by onset of symptoms in the first year of life, with the development of progressive alopecia, hypo- and hyperpigmented macular skin lesions, palmoplantar keratoderma, and nail dystrophy. Beginning in the third decade of life, patients develop recurrent squamous cell carcinomas. Some patients may have brittle teeth resulting in tooth loss, and multinodular goiter has been observed. CAPOK can be caused by homozygous mutation in the SASH1 gene on chromosome 6q24. (OMIM)" []
synonym: "CAPOK" EXACT []
xref: MIM:618373
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:1749 ! squamous cell carcinoma
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:987 ! alopecia
created_by: gthayman
creation_date: 2019-04-01T16:22:52Z

[Term]
id: DOID:9008148
name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D
def: "This is a disease characterized by facial dysmorphism, joint hypermobility, muscle hypotonia, and multiple severe herniations, including inguinal, ventral, diaphragmatic, sciatic, and obturator, as well as large diverticula of the gastrointestinal tract and urinary bladder. The skin is thin and translucent with easy bruising." [MIM:620780]
synonym: "ARCL1D" EXACT []
synonym: "autosomal recessive cutis laxa type ID" EXACT []
synonym: "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID" EXACT []
xref: MIM:620780
is_a: DOID:0070144 ! autosomal recessive cutis laxa type I
created_by: slaulederkind
creation_date: 2024-05-10T17:28:14Z

[Term]
id: DOID:9008149
name: Conductive Deafness with Ptosis and Skeletal Anomalies
alt_id: MIM:221320
synonym: "Deafness Conductive Ptosis Skeletal Anomalies" EXACT []
synonym: "Jackson Barr syndrome" EXACT []
xref: MESH:C535993
is_a: DOID:0060260 ! ptosis
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9008150
name: Ataxia, Deafness, and Cardiomyopathy
alt_id: MIM:208750
xref: MESH:C565932
is_a: DOID:0050700 ! cardiomyopathy
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9008151
name: Rectocele
def: "Herniation of the RECTUM into the VAGINA." [MESH:D020047]
synonym: "Proctocele" EXACT []
synonym: "Proctoceles" EXACT []
synonym: "Rectoceles" EXACT []
xref: EFO:1001837
xref: MESH:D020047
is_a: DOID:1283 ! enterocele
is_a: DOID:1285 ! rectal disease

[Term]
id: DOID:9008152
name: Agammaglobulinemia 8
synonym: "AGM8" EXACT []
synonym: "TCF3-RELATED CONDITION" EXACT []
is_a: DOID:2583 ! agammaglobulinemia
created_by: rgd
creation_date: 2017-02-14T00:00:00Z

[Term]
id: DOID:9008153
name: XK Aprosencephaly
alt_id: MIM:207770
synonym: "Aprosencephaly-atelencephaly syndrome" EXACT []
synonym: "Aprosencephaly syndrome" EXACT []
synonym: "Garcia-Lurie syndrome" EXACT []
synonym: "XK-aprosencephaly syndrome" EXACT []
synonym: "XK syndrome" EXACT []
xref: MESH:C536767
is_a: DOID:0060668 ! anencephaly
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008155
name: Dental Plaque
def: "A film that attaches to teeth, often causing DENTAL CARIES and GINGIVITIS. It is composed of MUCINS, secreted from salivary glands, and microorganisms." [MESH:D003773]
xref: MESH:D003773
is_a: DOID:9007861 ! Dental Deposits

[Term]
id: DOID:9008156
name: Lyngstadaas Syndrome
synonym: "Steroid dehydrogenase deficiency dental anomalies" EXACT []
xref: MESH:C537490
xref: RDO:0003336
is_a: DOID:1701 ! steroid inherited metabolic disorder
is_a: DOID:225 ! syndrome
is_a: DOID:9007917 ! Supernumerary Tooth

[Term]
id: DOID:9008157
name: Hecht Scott Syndrome
synonym: "Limb deficiency-heart malformation syndrome" EXACT []
xref: MESH:C535856
xref: RDO:0001193
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008158
name: Inflammation of the Whole Uveal Tract
xref: MESH:C531766
xref: RDO:0000182
is_a: DOID:12030 ! panuveitis

[Term]
id: DOID:9008159
name: 7p2 Monosomy Syndrome
synonym: "Chromosome 7, monosomy 7p2" EXACT []
synonym: "Chromosome 7, partial deletion of short arm (7p2-)" EXACT []
synonym: "Chromosome 7, partial monosomy 7p" EXACT []
synonym: "Chromosome 7, terminal 7p deletion (del 7p21-p22)" EXACT []
xref: MESH:C537818
xref: RDO:0003722
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9008161
name: Sunstroke
def: "Heat stroke caused by exposure to the sun. It is characterized by dangerously high BODY TEMPERATURE; red, hot skin; DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly." [MESH:D013474]
synonym: "Sun Stroke" EXACT []
synonym: "Sun Strokes" EXACT []
synonym: "Sunstrokes" EXACT []
xref: MESH:D013474
is_a: DOID:9004649 ! Heat Stroke

[Term]
id: DOID:9008162
name: Dendritic Keratitis
def: "A form of herpetic keratitis characterized by the formation of small vesicles which break down and coalesce to form recurring dendritic ulcers, characteristically irregular, linear, branching, and ending in knoblike extremities. (Dictionary of Visual Science, 3d ed)" [MESH:D007635]
synonym: "Dendritic Keratitides" EXACT []
synonym: "Furrow Keratitides" EXACT []
synonym: "Furrow Keratitis" EXACT []
xref: EFO:1001883
xref: MESH:D007635
is_a: DOID:0080158 ! herpes simplex virus keratitis

[Term]
id: DOID:9008163
name: Chronic Hepatitis B
def: "INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." [MESH:D019694]
xref: MESH:D019694
is_a: DOID:2043 ! hepatitis B
is_a: DOID:9008510 ! Chronic Hepatitis

[Term]
id: DOID:9008164
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS
def: "This disease is an autosomal recessive disorder characterized by global developmental delay apparent in infancy manifest as speech delay and late walking by a few years. Affected individuals have hypertonia or, more rarely, hypotonia; a notable common feature is facial myokymia with corresponding EMG findings." [MIM:620007]
synonym: "IDDMDS" EXACT []
synonym: "PERIPHERAL NERVE HYPEREXCITABILITY SYNDROME" EXACT []
synonym: "PNHS" EXACT []
xref: MIM:620007
is_a: DOID:1059 ! intellectual disability
is_a: DOID:17 ! musculoskeletal system disease
created_by: slaulede
creation_date: 2022-12-09T15:18:05Z

[Term]
id: DOID:9008165
name: Chromosome Deletion
def: "Actual loss of portion of a chromosome." [MESH:D002872]
synonym: "chromosome deletions" EXACT []
synonym: "Partial Monosomies" EXACT []
synonym: "Partial Monosomy" EXACT []
xref: MESH:D002872
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:9004684 ! Monosomy

[Term]
id: DOID:9008166
name: Achondroplastic Dwarfism
xref: MESH:C531599
is_a: DOID:4480 ! achondroplasia

[Term]
id: DOID:9008167
name: Choreoathetosis, Familial Inverted
alt_id: MIM:118750
synonym: "Infantile Choreoathetosis of Fisher" EXACT []
xref: MESH:C566127
is_a: DOID:12859 ! choreatic disease
is_a: DOID:9008739 ! Athetosis

[Term]
id: DOID:9008168
name: Familial Anomalous Origin of Right Pulmonary Artery
alt_id: MIM:610338
synonym: "ARPA, Familial" EXACT []
synonym: "RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, WITH VENTRICULAR SEPTAL DEFECT, PATENT FORAMEN OVALE, AND PATENT DUCTUS ARTERIOSUS" EXACT []
xref: MESH:C535681
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9008169
name: Cavernous Transformation of Portal Vein
alt_id: MIM:601004
xref: MESH:C563407
is_a: DOID:10762 ! portal hypertension

[Term]
id: DOID:9008170
name: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
alt_id: MIM:613330
def: "Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet. Spondylo-megaepiphyseal-metaphyseal dysplasia is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15. (OMIM)" []
synonym: "SMMD" EXACT []
xref: MESH:C567639
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9008171
name: Progeroid Facial Appearance with Hand Anomalies
alt_id: MIM:602249
xref: MESH:C566563
is_a: DOID:3911 ! progeria
is_a: DOID:9001487 ! Facies
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9008173
name: Paraparesis
def: "Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions." [MESH:D020335]
synonym: "Cerebral Paraparesis" EXACT []
synonym: "Chronic Progressive Paraparesis" EXACT []
synonym: "Hypotonic Paraparesis" EXACT []
synonym: "Parapareses" EXACT []
synonym: "Spinal Paraparesis" EXACT []
xref: MESH:D020335
is_a: DOID:9002079 ! Paresis

[Term]
id: DOID:9008174
name: Zimmermann-Laband Syndrome 2
synonym: "ATP6V1B2 RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
synonym: "ZIMMERMANN-LABAND SYNDROME WITH EPILEPTIC ENCEPHALOPATHY" EXACT []
synonym: "ZLS2" EXACT []
xref: MIM:616455
is_a: DOID:9004260 ! Zimmerman Laband Syndrome
created_by: mtutaj
creation_date: 2019-11-12T11:38:47Z

[Term]
id: DOID:9008175
name: Hereditary Diffuse Leukoencephalopathy with Spheroids 2
def: "An autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Caused by heterozygous mutation in the AARS1 gene on chromosome 16q22." [MIM:619661]
synonym: "HDLS2" EXACT []
synonym: "hereditary diffuse leukoencephalopathy with spheroids, Swedish type" EXACT []
xref: MIM:619661
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:9002704 ! Leukoencephalopathies
created_by: mtutaj
creation_date: 2022-01-06T14:48:08Z

[Term]
id: DOID:9008176
name: Lipomatous Hemangiopericytoma
xref: MESH:C537029
is_a: DOID:1984 ! rectal benign neoplasm
is_a: DOID:264 ! hemangiopericytoma
is_a: DOID:3315 ! lipoma

[Term]
id: DOID:9008177
name: Pashayan Syndrome
alt_id: MIM:110050
synonym: "Blepharonasofacial malformation syndrome" EXACT []
xref: MESH:C536303
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008178
name: Sandifer Syndrome
synonym: "Sandifer's syndrome" EXACT []
xref: MESH:C537234
is_a: DOID:0050840 ! cervical dystonia
is_a: DOID:225 ! syndrome
is_a: DOID:8534 ! gastroesophageal reflux disease

[Term]
id: DOID:9008179
name: Peroxisome Biogenesis Disorder, Complementation Group 7
synonym: "CG7" NARROW []
synonym: "CGB" NARROW []
synonym: "peroxisome biogenesis disorder, complementation group B" NARROW []
xref: MESH:C566422
is_a: DOID:0080377 ! peroxisomal biogenesis disorder

[Term]
id: DOID:9008180
name: Hydroxylysinuria
alt_id: MIM:236900
xref: MESH:C565502
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9005154 ! Myoclonic Epilepsies

[Term]
id: DOID:9008181
name: Severe Combined Immunodeficiency, Atypical
synonym: "SCID, atypical" EXACT []
xref: MESH:C537590
xref: RDO:0003459
is_a: DOID:627 ! severe combined immunodeficiency

[Term]
id: DOID:9008182
name: Aerophagy
def: "Spasmodic swallowing of air." [MESH:D000334]
synonym: "Air Swallowing" EXACT []
xref: MESH:D000334
xref: RDO:0004762
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:9008183
name: Sleep-Wake Transition Disorders
def: "Parasomnias characterized by behavioral abnormalities that occur during the transition between wakefulness and sleep (or between sleep and wakefulness)." [MESH:D020922]
synonym: "Jactatio Capitis Nocturna" EXACT []
synonym: "Movement Disorders, Rhythmic Nocturnal" EXACT []
synonym: "Nocturnal Leg Cramp" EXACT []
synonym: "Nocturnal Leg Cramps" EXACT []
synonym: "Nocturnal Sleep Head Banging" EXACT []
synonym: "Sleep Starts" EXACT []
synonym: "Sleep Talking" EXACT []
synonym: "Sleep-Wake Transitional Disorder" EXACT []
synonym: "Sleep Wake Transitional Disorders" EXACT []
synonym: "Sleep-Wake Transition Disorder" EXACT []
synonym: "Somnolescent Starts" EXACT []
xref: MESH:D020922
xref: RDO:0007444
is_a: DOID:9004040 ! Parasomnias

[Term]
id: DOID:9008184
name: Fecal Incontinence
def: "Failure of voluntary control of the anal sphincters, with involuntary passage of feces and flatus." [MESH:D005242]
synonym: "Fecal Incontinences" EXACT []
xref: EFO:0009523
xref: MESH:D005242
is_a: DOID:1285 ! rectal disease

[Term]
id: DOID:9008186
name: Hypercarotenemia and Vitamin A Deficiency, Autosomal Recessive
alt_id: MIM:277350
xref: MESH:C567486
is_a: DOID:9008550 ! Vitamin A Deficiency
is_a: DOID:9969 ! carotenemia

[Term]
id: DOID:9008187
name: Primary Ovarian Insufficiency 22
def: "A female infertility, with small to atrophic ovaries and no visible ovarian follicles. Caused by homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13." [MIM:620548]
synonym: "POF22" EXACT []
synonym: "PREMATURE OVARIAN FAILURE 22" EXACT []
xref: MIM:620548
is_a: DOID:5426 ! primary ovarian insufficiency
created_by: tutajm
creation_date: 2023-10-24T10:44:46Z

[Term]
id: DOID:9008189
name: Pyelectasis
def: "Dilation of fetal KIDNEY PELVIS. It is a common PRENATAL ULTRASONOGRAPHY finding with no significant long-term sequelae." [MESH:D058536]
synonym: "Fetal Pyelectases" EXACT []
synonym: "Fetal Pyelectasis" EXACT []
synonym: "Prenatal Fetal Pyelectases" EXACT []
synonym: "Prenatal Fetal Pyelectasis" EXACT []
synonym: "Pyelectases" EXACT []
xref: MESH:D058536
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9001984 ! Fetal Diseases

[Term]
id: DOID:9008190
name: Hypochromic Microcytic Anemia with Iron Overload 2
alt_id: RDO:9000876
synonym: "AHMIO2" EXACT []
xref: MIM:615234
is_a: DOID:9001631 ! Hypochromic Microcytic Anemia with Iron Overload

[Term]
id: DOID:9008191
name: Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract
synonym: "Congenital nuclear cataract, autosomal recessive" EXACT []
xref: MESH:C537298
xref: RDO:0003117
is_a: DOID:83 ! cataract

[Term]
id: DOID:9008192
name: Neoplastic Processes
def: "The pathological mechanisms and forms taken by tissue during degeneration into a neoplasm and its subsequent activity." [MESH:D009385]
xref: MESH:D009385
is_a: DOID:14566 ! disease of cellular proliferation
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9008193
name: Cartilage Fractures
def: "Breaks in CARTILAGE." [MESH:D050724]
synonym: "Cartilage Fracture" EXACT []
xref: MESH:D050724
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9008194
name: Radio-Ulnar Synostosis Type 1
synonym: "Congenital radio-ulnar synostosis" EXACT []
xref: MESH:C536268
is_a: DOID:11193 ! syndactyly
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008195
name: Subvalvular Aortic Stenosis, Eisenberg Type
xref: MESH:C538550
xref: RDO:0004490
is_a: DOID:5805 ! subvalvular aortic stenosis

[Term]
id: DOID:9008196
name: Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism
alt_id: MIM:608432
xref: MESH:C564241
is_a: DOID:0060230 ! basal ganglia calcification
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9008197
name: Familial Atrial Fibrillation 3
alt_id: MIM:607554
alt_id: RDO:0012980
synonym: "ATFB3" EXACT []
xref: MESH:C563817
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9008198
name: uterine carcinoma
synonym: "carcinoma of uterus" EXACT []
synonym: "uterus carcinoma" EXACT []
xref: EFO:0002919
is_a: DOID:363 ! uterine cancer
created_by: slaulede
creation_date: 2023-01-13T10:12:44Z

[Term]
id: DOID:9008199
name: Pelvis-Shoulder Dysplasia
alt_id: MIM:169550
synonym: "Kosenow syndrome" EXACT []
synonym: "scapuloiliac dysostosis" EXACT []
xref: MESH:C566811
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008200
name: Megalencephaly-Polydactyly Syndrome
def: "An autosomal dominant disorder characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and, notably, neuroblastoma during infancy. Caused by heterozygous mutation in the MYCN gene on chromosome 2p24." [MIM:620748]
synonym: "MPAPA" EXACT []
xref: MIM:620748
is_a: DOID:769 ! neuroblastoma
is_a: DOID:9003071 ! Postaxial Polydactyly
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9009131 ! Ventriculomegaly
created_by: tutajm
creation_date: 2024-03-18T12:26:08Z

[Term]
id: DOID:9008201
name: Eye Infections
def: "Infection, moderate to severe, caused by bacteria, fungi, or viruses, which occurs either on the external surface of the eye or intraocularly with probable inflammation, visual impairment, or blindness." [MESH:D015817]
synonym: "Eye Infection" EXACT []
synonym: "Ocular Infection" EXACT []
synonym: "Ocular Infections" EXACT []
xref: EFO:1001888
xref: MESH:D015817
xref: MONDO:0043885
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:9008202
name: WT Limb Blood Syndrome
alt_id: MIM:194350
synonym: "Radial-ulnar hypoplasia with bone marrow failure and-or leukemia" EXACT []
xref: MESH:C536751
is_a: DOID:1240 ! leukemia
is_a: DOID:12449 ! aplastic anemia
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008203
name: Lubinsky Syndrome
alt_id: MIM:240950
synonym: "cataracts and testicular failure" EXACT []
synonym: "hypogonadism-cataract syndrome" EXACT []
xref: MESH:C543092
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:83 ! cataract

[Term]
id: DOID:9008204
name: White Coat Hypertension
def: "Phenomenon where BLOOD PRESSURE readings are elevated only when taken in clinical settings." [MESH:D059466]
synonym: "Isolated Clinic Hypertension" EXACT []
synonym: "White Coat Syndrome" EXACT []
xref: MESH:D059466
xref: RDO:0010020
is_a: DOID:10763 ! hypertension

[Term]
id: DOID:9008205
name: Macrostomia
alt_id: MIM:613545
def: "Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)" [MESH:D008265]
synonym: "COMMISSURAL CLEFT, ISOLATED" EXACT []
synonym: "LATERAL CLEFT, ISOLATED" EXACT []
synonym: "MACROSTOMIA, ISOLATED" EXACT []
synonym: "Macrostomias" EXACT []
synonym: "TRANSVERSE CLEFT, ISOLATED" EXACT []
xref: MESH:D008265
is_a: DOID:9001018 ! Mouth Abnormalities

[Term]
id: DOID:9008207
name: Chronic Thyroiditis
xref: MESH:C535842
is_a: DOID:7166 ! thyroiditis

[Term]
id: DOID:9008208
name: Heparin-induced Thrombocytopenia
def: "The development of thrombocytopenia, as a result of the administration of one of the various forms of the anticoagulant heparin." []
synonym: "heparin-induced thrombopenia" EXACT []
synonym: "HIT" EXACT []
is_a: DOID:9004593 ! Drug-Induced Immune Thrombocytopenia
created_by: rgd
creation_date: 2016-03-16T00:00:00Z

[Term]
id: DOID:9008210
name: Bovine Virus Diarrhea-Mucosal Disease
def: "Acute disease of cattle caused by the bovine viral diarrhea viruses (DIARRHEA VIRUSES, BOVINE VIRAL). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality." [MESH:D001912]
synonym: "Mucosal Disease, Bovine Viral Diarrhea" EXACT []
xref: EFO:0007181
xref: MESH:D001912
is_a: DOID:9004723 ! Cattle Diseases
is_a: DOID:9008833 ! Pestivirus Infections

[Term]
id: DOID:9008211
name: Valinemia
alt_id: MIM:277100
synonym: "Hypervalinemia" EXACT []
synonym: "Valine transaminase deficiency" EXACT []
xref: MESH:C536524
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9008212
name: Diabetic Foot
def: "Common foot problems in persons with DIABETES MELLITUS, caused by any combination of factors such as DIABETIC NEUROPATHIES; PERIPHERAL VASCULAR DISEASES; and INFECTION. With the loss of sensation and poor circulation, injuries and infections often lead to severe foot ulceration, GANGRENE and AMPUTATION." [MESH:D017719]
synonym: "Diabetic Feet" EXACT []
synonym: "Diabetic Foot Ulcer" EXACT []
xref: EFO:1001459
xref: MESH:D017719
is_a: DOID:11713 ! diabetic angiopathy
is_a: DOID:9009049 ! Foot Ulcer
is_a: DOID:9743 ! diabetic neuropathy

[Term]
id: DOID:9008213
name: Paragangliomas 7
synonym: "PGL7" EXACT []
synonym: "pheochromocytoma/paraganglioma syndrome 7" EXACT []
synonym: "PPGL7" EXACT []
xref: MIM:618475
is_a: DOID:0050773 ! paraganglioma
created_by: mtutaj
creation_date: 2019-06-25T14:14:11Z

[Term]
id: DOID:9008214
name: Genu Valgum
def: "An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING)." [MESH:D056304]
synonym: "Genu Valga" EXACT []
synonym: "Genu Valgas" EXACT []
synonym: "Genu Valgums" EXACT []
synonym: "Knock Knee" EXACT []
synonym: "Knock Knees" EXACT []
xref: MESH:D056304
is_a: DOID:0080001 ! bone disease

[Term]
id: DOID:9008216
name: Craniosynostosis Syndrome, Autosomal Recessive
alt_id: MIM:606529
synonym: "Craniosynostosis Syndrome" EXACT []
xref: MESH:C564700
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008217
name: Hemorrhage
def: "Bleeding or escape of blood from a vessel." [MESH:D006470]
synonym: "Bleeding" EXACT []
synonym: "Hemorrhages" EXACT []
xref: MESH:D006470
xref: RDO:0004420
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9008218
name: Carey-Fineman-Ziter Syndrome 1
def: "A multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. Caused by homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34." []
synonym: "CFZS1" EXACT []
xref: MIM:254940
is_a: DOID:0080194 ! Carey-Fineman-Ziter syndrome
created_by: mtutaj
creation_date: 2022-07-01T12:18:50Z

[Term]
id: DOID:9008219
name: Post-Concussion Syndrome
def: "The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging." [MESH:D038223]
synonym: "Chronic Post-Concussive Syndrome" EXACT []
synonym: "Chronic Post-Concussive Syndromes" EXACT []
synonym: "Post-Concussion Symptom" EXACT []
synonym: "Post Concussion Symptoms" EXACT []
synonym: "Post-Concussive Symptom" EXACT []
synonym: "Post Concussive Symptoms" EXACT []
synonym: "Post Concussive Syndrome" EXACT []
synonym: "Post-Concussive Syndromes" EXACT []
xref: EFO:1001827
xref: MESH:D038223
is_a: DOID:225 ! syndrome
is_a: DOID:9008967 ! Brain Concussion

[Term]
id: DOID:9008220
name: Retrobulbar Hemorrhage
def: "Hemorrhage within the orbital cavity, posterior to the eyeball." [MESH:D019315]
synonym: "Retrobulbar Hemorrhages" EXACT []
xref: EFO:1001414
xref: MESH:D019315
is_a: DOID:9008217 ! Hemorrhage
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:9008221
name: Medial Coronary Sclerosis of Infancy
xref: MESH:C565944
is_a: DOID:182 ! calcinosis
is_a: DOID:3393 ! coronary artery disease

[Term]
id: DOID:9008222
name: Usher Syndrome Type 1M
synonym: "USH1M" EXACT []
xref: MIM:618632
is_a: DOID:0110826 ! Usher syndrome type 1
created_by: mtutaj
creation_date: 2019-10-23T09:56:41Z

[Term]
id: DOID:9008223
name: Desmoplastic Cerebral Astrocytoma of Infancy
xref: MESH:C535945
is_a: DOID:0050685 ! small cell carcinoma
is_a: DOID:3069 ! malignant astrocytoma

[Term]
id: DOID:9008224
name: Stratton-Parker Syndrome
alt_id: MIM:185120
synonym: "Growth Hormone Deficiency with Wormian Bones, Cardiac Anomaly, and Brachycamptodactyly" EXACT []
xref: MESH:C566105
is_a: DOID:10488 ! imperforate anus
is_a: DOID:10892 ! hypospadias
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9008225
name: Respirovirus Infections
def: "Infections with viruses of the genus RESPIROVIRUS, family PARAMYXOVIRIDAE. Host cell infection occurs by adsorption, via HEMAGGLUTININ, to the cell surface." [MESH:D010253]
synonym: "Respirovirus infectious disease" EXACT []
xref: EFO:0007465
xref: MESH:D010253
xref: RDO:0006282
is_a: DOID:9007244 ! Paramyxoviridae Infections

[Term]
id: DOID:9008227
name: Pregnancy-associated Malaria
def: "The co-occurrence of pregnancy and malaria caused by Plasmodium falciparum." []
synonym: "PAM" EXACT []
xref: RDO:9001161
is_a: DOID:14067 ! Plasmodium falciparum malaria
is_a: DOID:9003878 ! Parasitic Pregnancy Complications
created_by: rgd
creation_date: 2016-04-01T00:00:00Z

[Term]
id: DOID:9008228
name: Forsythe-Wakeling Syndrome
synonym: "FWS" EXACT []
synonym: "MICROCEPHALY AND GROWTH RETARDATION WITH CHILDHOOD-ONSET NEPHROTIC SYNDROME AND THROMBOCYTOPENIA" EXACT []
xref: MIM:613606
is_a: DOID:10907 ! microcephaly
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:225 ! syndrome
is_a: DOID:2527 ! nephrosis
is_a: DOID:2962 ! Cockayne syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9008229
name: Recurrent Myoglobinuria
alt_id: MIM:550500
xref: MESH:C564018
is_a: DOID:0080108 ! myoglobinuria

[Term]
id: DOID:9008230
name: Lymphatic Malformation 13
def: "A disease characterized by the presence of nonimmune hydrops fetalis which often resolves with age. Caused by homozygous mutation in the THSD1 gene on chromosome 13q14." [MIM:620244]
synonym: "HYDROPS FETALIS, NONIMMUNE, WITH CARDIAC DEFECTS AND HEMANGIOMAS" EXACT []
synonym: "LMPHM13" EXACT []
xref: MIM:620244
is_a: DOID:0050580 ! hereditary lymphedema
is_a: DOID:9008386 ! Hydrops Fetalis
created_by: mtutaj
creation_date: 2023-02-13T08:15:16Z

[Term]
id: DOID:9008231
name: Nutritional and Metabolic Diseases
def: "A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances." [MESH:D009750]
subset: RGD_JBrowse_slim
xref: MESH:D009750
is_a: DOID:4 ! disease

[Term]
id: DOID:9008232
name: Neutrophilia
def: "A transient increase in the number of neutrophils in a body fluid" []
synonym: "neutrophilic leukocytosis" EXACT []
is_a: DOID:9001039 ! Leukocytosis
created_by: rgd
creation_date: 2015-05-29T00:00:00Z

[Term]
id: DOID:9008233
name: Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies
alt_id: MIM:271520
synonym: "Casamassima-Morton-Nance Syndrome" EXACT []
synonym: "CMN Syndrome" EXACT []
xref: MESH:C564799
is_a: DOID:0050568 ! spondylocostal dysostosis
is_a: DOID:10488 ! imperforate anus
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:9008234
name: Distal Arthrogryposis Type 12
def: "A disease characterized by congenital contractures, primarily affecting the small joints of the fingers and toes. Caused by homozygous mutation in the ADAMTS15 gene on chromosome 11q25." [MIM:620545]
synonym: "DA12" EXACT []
xref: MIM:620545
is_a: DOID:0050646 ! distal arthrogryposis
created_by: tutajm
creation_date: 2023-10-24T13:35:49Z

[Term]
id: DOID:9008235
name: Tyrosinosis
xref: MESH:C562659
xref: MIM:276800
xref: MONDO:0010163
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9008236
name: Ritscher-Schinzel Syndrome 3
synonym: "RTSC3" EXACT []
xref: MIM:619135
is_a: DOID:0060565 ! Ritscher-Schinzel syndrome
created_by: mtutaj
creation_date: 2021-01-04T16:28:49Z

[Term]
id: DOID:9008237
name: Hemimegalencephaly
def: "Rare MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I characterized by the enlargement of one side of the brain. It is associated with seizures, partial paralysis, and mental retardation." [MESH:D065705]
synonym: "hemimegalencephalies" EXACT []
synonym: "Unilateral Macrocephalies" EXACT []
synonym: "Unilateral Macrocephaly" EXACT []
synonym: "Unilateral Megalencephalies" EXACT []
synonym: "unilateral megalencephaly" EXACT []
xref: MESH:D065705
xref: NCI:C177779
is_a: DOID:9003816 ! Macrocephaly

[Term]
id: DOID:9008238
name: Dincsoy Salih Patel Syndrome
alt_id: MIM:601016
synonym: "Dincsoy syndrome" EXACT []
synonym: "multiple midline malformations with limb abnormalities and hypopituitarism" EXACT []
xref: MESH:C536177
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9406 ! hypopituitarism

[Term]
id: DOID:9008239
name: Preeclampsia/Eclampsia 4
alt_id: MIM:609404
synonym: "PEE4" EXACT []
xref: MESH:C563724
is_a: DOID:10591 ! pre-eclampsia

[Term]
id: DOID:9008240
name: Disorganized Schizophrenia
def: "A type of schizophrenia characterized by frequent incoherence; marked loosening of associations, or grossly disorganized behavior and flat or grossly inappropriate affect that does not meet the criteria for the catatonic type; associated features include extreme social withdrawal, grimacing, mannerisms, mirror gazing, inappropriate giggling, and other odd behavior. (Dorland, 27th ed)" [MESH:D012562]
synonym: "Disorganized Schizophrenias" EXACT []
synonym: "Hebephrenic Schizophrenia" EXACT []
synonym: "Hebephrenic Schizophrenias" EXACT []
xref: MESH:D012562
is_a: DOID:5419 ! schizophrenia

[Term]
id: DOID:9008242
name: Pachyonychia Congenita 1
synonym: "Jadassohn-Lewandowski Syndrome (Pc-1)" EXACT []
synonym: "Jadassohn-Lewandowsky Syndrome" EXACT []
synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type" EXACT []
synonym: "Pachyonychia Congenita Tarda, Type 1" EXACT []
synonym: "Pachyonychia Congenita Type 1" EXACT []
synonym: "PC1" EXACT []
xref: MIM:167200
is_a: DOID:0050449 ! pachyonychia congenita
created_by: mtutaj
creation_date: 2019-03-26T12:29:05Z

[Term]
id: DOID:9008243
name: Pyruvate Dehydrogenase E2 Deficiency
alt_id: MIM:245348
def: "Pyruvate dehydrogenase E2 deficiency is caused by homozygous mutation in the DLAT gene on chromosome 11q23. (OMIM)" []
synonym: "Dihydrolipoyl transacetylase" EXACT []
synonym: "Lactic Acidemia due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex" EXACT []
synonym: "PDHDD" EXACT []
xref: MESH:C565448
is_a: DOID:3649 ! pyruvate decarboxylase deficiency
is_a: DOID:3650 ! lactic acidosis

[Term]
id: DOID:9008244
name: Delta-Thalassemia
def: "A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA." [MESH:D055538]
synonym: "Delta-0-Thalassemia" EXACT []
synonym: "delta-Thalassemias" EXACT []
synonym: "DELTA-ZERO-THALASSEMIA, KNOSSOS TYPE" NARROW []
synonym: "HEMOGLOBIN A(2) GROVETOWN" RELATED []
synonym: "HEMOGLOBIN A(2) YIALOUSA" RELATED []
xref: MESH:D055538
is_a: DOID:10241 ! thalassemia

[Term]
id: DOID:9008245
name: Conjunctival Neoplasms
def: "Tumors or cancer of the CONJUNCTIVA." [MESH:D003230]
synonym: "Conjunctival Neoplasm" EXACT []
xref: MESH:D003230
is_a: DOID:4251 ! conjunctival disease
is_a: DOID:9004059 ! Eye Neoplasms

[Term]
id: DOID:9008246
name: Papulosquamous Skin Diseases
alt_id: RDO:0006291
def: "A group of dermatoses with distinct morphologic features. The primary lesion is most commonly a papule, usually erythematous, with a variable degree of scaling on the surface. Plaques form through the coalescing of primary lesions." [MESH:D017444]
synonym: "Papulosquamous Disorder" EXACT []
synonym: "Papulosquamous Disorders" EXACT []
synonym: "Papulosquamous Skin Disease" EXACT []
xref: MESH:D017444
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9008247
name: Pfeiffer Kapferer Syndrome
synonym: "Short stature, mental retardation and multiple dysmorphisms" EXACT []
xref: MESH:C537887
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008248
name: Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction
synonym: "FPVEPD" EXACT []
xref: MIM:617732
is_a: DOID:13934 ! facial paralysis
created_by: rgd
creation_date: 2017-12-04T00:00:00Z

[Term]
id: DOID:9008249
name: Bifid or Double Ureter
alt_id: MIM:191550
xref: MESH:C566012
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:9008250
name: Leukoencephalopathy with Ataxia
synonym: "LKPAT" EXACT []
xref: MIM:615651
xref: NCI:C171603
xref: RDO:9001025
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9008251
name: Toothache
def: "Pain in the adjacent areas of the teeth." [MESH:D014098]
synonym: "odontalgia" EXACT []
synonym: "odontalgias" EXACT []
synonym: "toothaches" EXACT []
xref: EFO:0010072
xref: MESH:D014098
is_a: DOID:1091 ! tooth disease
is_a: DOID:9003932 ! Facial Pain

[Term]
id: DOID:9008254
name: Granulomatous Disease with Defect in Neutrophil Chemotaxis
xref: MESH:C565534
is_a: DOID:3265 ! chronic granulomatous disease

[Term]
id: DOID:9008255
name: Cognitive Impairment with or Without Cerebellar Ataxia
def: "Cognitive impairment with or without cerebellar ataxia is caused by heterozygous mutation in the SCN8A gene on chromosome 12q13. (OMIM)" []
synonym: "CIAT" EXACT []
synonym: "COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA" NARROW []
xref: MIM:614306
is_a: DOID:1561 ! cognitive disorder

[Term]
id: DOID:9008256
name: Kallikrein Hypertension
synonym: "Kallikrein attenuated hypertension" EXACT []
xref: MESH:C537707
is_a: DOID:10763 ! hypertension

[Term]
id: DOID:9008257
name: Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal
alt_id: MIM:175510
synonym: "Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial" EXACT []
synonym: "GIST-plus syndrome" EXACT []
synonym: "GISTPS" EXACT []
xref: EFO:0010279
xref: MESH:C566774
is_a: DOID:0050871 ! fibroma
is_a: DOID:9006796 ! Gastrointestinal Neoplasms

[Term]
id: DOID:9008258
name: Bovine Mastitis
def: "INFLAMMATION of the UDDER in cows." [MESH:D008414]
synonym: "Bovine Mastitides" EXACT []
xref: EFO:1001765
xref: MESH:D008414
is_a: DOID:9004723 ! Cattle Diseases

[Term]
id: DOID:9008259
name: Atypical Interstitial Pneumonia of Cattle
def: "A cattle disease of uncertain cause, probably an allergic reaction." [MESH:D011016]
synonym: "Bovine Pulmonary Adenomatoses" EXACT []
synonym: "Bovine Pulmonary Adenomatosis" EXACT []
synonym: "Emphysema, Acute Bovine Pulmonary" EXACT []
synonym: "Fog Fever" EXACT []
xref: MESH:D011016
is_a: DOID:9006345 ! Bovine Respiratory Disease Complex

[Term]
id: DOID:9008260
name: Multiple Epiphyseal Dysplasia with Miniepiphyses
alt_id: MIM:609325
xref: MESH:C563735
is_a: DOID:12721 ! multiple epiphyseal dysplasia

[Term]
id: DOID:9008261
name: Chemically-Induced Disorders
def: "Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as PHARMACEUTICAL PREPARATIONS; NOXAE; and PESTICIDES." [MESH:D064419]
subset: RGD_JBrowse_slim
synonym: "Chemically-Induced Disorder" EXACT []
synonym: "trichloroethylene-induced hypersensitivity" NARROW []
xref: EFO:0007685
xref: MESH:D064419
xref: RDO:0015820
is_a: DOID:4 ! disease

[Term]
id: DOID:9008262
name: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED
def: "A disease in which patients present at birth with AMC and joint contractures, including clenched hands, overlapping digits, ulnar or radial deviation of the hands, metacarpophalangeal contractures, flexion contractures of the wrists, elbows, and knees, hip contractures, rocker bottom feet, clubfeet, Achilles tendon contractures, narrow chest with limited shoulder movements, and progressive kyphosis or scoliosis." [MIM:301041]
synonym: "female-restricted Wieacker-Wolff syndrome" EXACT []
synonym: "WRWFFR" EXACT []
xref: MIM:301041
xref: NCI:C198578
is_a: DOID:0060815 ! Miles-Carpenter syndrome
created_by: slaulede
creation_date: 2020-08-20T16:43:25Z

[Term]
id: DOID:9008263
name: Paroxysmal Nocturnal Hemoglobinuria 2
synonym: "PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, SUSCEPTIBILITY TO" RELATED []
synonym: "PIGT-RELATED DISORDER" BROAD []
synonym: "PNH2" EXACT []
xref: MIM:615399
is_a: DOID:0060284 ! paroxysmal nocturnal hemoglobinuria

[Term]
id: DOID:9008264
name: Uhl Anomaly
synonym: "Parchment right ventricle" EXACT []
synonym: "Uhl's anomaly" EXACT []
xref: MESH:C536932
is_a: DOID:12930 ! dilated cardiomyopathy
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9008266
name: Neuhauser Syndrome
synonym: "Cerebral palsy-hypotonic seizures-megalcornea syndrome" EXACT []
synonym: "megalocornea-intellectual disability syndrome" EXACT []
synonym: "Megalocornea-macrocephaly-mental and motor retardation (MMMM) syndrome" EXACT []
synonym: "Megalocornea mental retardation syndrome" EXACT []
synonym: "MMR syndrome" EXACT []
synonym: "Neuhäuser syndrome" EXACT []
synonym: "Seizures-hypotonic cerebral palsy-megalocornea-mental retardation syndrome" EXACT []
xref: GARD:3448
xref: MESH:C536143
xref: MIM:249310
xref: MONDO:0009577
xref: ORDO:2479
is_a: DOID:10124 ! corneal disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1969 ! cerebral palsy
is_a: DOID:225 ! syndrome
is_a: DOID:9003816 ! Macrocephaly

[Term]
id: DOID:9008267
name: Fibrous Dysplasia of Bone
def: "A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC)." [MESH:D005357]
synonym: "Bone Fibrous Dysplasia" EXACT []
synonym: "Bone Fibrous Dysplasias" EXACT []
synonym: "Osteitis Fibrosa Disseminata" EXACT []
xref: MESH:D005357
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9008268
name: Enuresis
def: "Involuntary discharge of URINE after expected age of completed development of urinary control. This can happen during the daytime (DIURNAL ENURESIS) while one is awake or during sleep (NOCTURNAL ENURESIS). Enuresis can be in children or in adults (as persistent primary enuresis and secondary adult-onset enuresis)." [MESH:D004775]
xref: MESH:D004775
xref: MONDO:0024290
is_a: DOID:9000681 ! Elimination Disorders
is_a: DOID:9003919 ! Urination Disorders

[Term]
id: DOID:9008269
name: Kasznica Carlson Coppedge Syndrome
synonym: "Ectrodactyly spina bifida cardiopathy" EXACT []
xref: MESH:C537011
xref: RDO:0002755
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001031 ! Retrognathia
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007921 ! Spina Bifida Cystica

[Term]
id: DOID:9008270
name: Braddock Carey Syndrome
synonym: "Thrombocytopenia Robin Sequence" EXACT []
xref: MESH:C536898
xref: MIM:PS619980
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9008271
name: Sublingual Gland Neoplasms
def: "Neoplasms of the sublingual glands." [MESH:D013362]
synonym: "Sublingual Gland Neoplasm" EXACT []
xref: EFO:1001430
xref: MESH:D013362
xref: RDO:0006640
is_a: DOID:9003216 ! Salivary Gland Neoplasms

[Term]
id: DOID:9008272
name: Acid-Labile Subunit Deficiency
def: "Associated with severely reduced IGF1 and IGFBP3 concentrations and mild growth retardation. (OMIM)" []
synonym: "ACLSD" EXACT []
synonym: "SHORT STATURE DUE TO PRIMARY ACID-LABILE SUBUNIT DEFICIENCY" EXACT []
xref: MIM:615961
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9008273
name: Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
alt_id: MIM:608809
synonym: "Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema" EXACT []
xref: MESH:C535888
xref: MESH:C563852
is_a: DOID:0060180 ! colitis
is_a: DOID:2583 ! agammaglobulinemia
is_a: DOID:848 ! arthritis
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008274
name: Bethlem Myopathy 1C
def: "A congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. Caused by heterozygous mutation in the COL6A3 gene on chromosome 2q37." [MIM:620726]
synonym: "BTHLM1C" EXACT []
xref: MIM:620726
xref: MONDO:0958234
is_a: DOID:0050663 ! Bethlem myopathy
created_by: tutajm
creation_date: 2024-03-18T10:51:27Z

[Term]
id: DOID:9008275
name: Oroacral Syndrome, Verloes-Koulischer Type
alt_id: MIM:603446
xref: MESH:C566374
is_a: DOID:9001487 ! Facies
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9008276
name: Juvenile Pauciarticular Chronic Arthritis
alt_id: RDO:0001841
synonym: "oligoarticular juvenile idiopathic arthritis" EXACT []
synonym: "Pauciarticular chronic arthritis" EXACT []
synonym: "Pauciarticular Juvenile Rheumatoid Arthritis" EXACT []
xref: EFO:0003114
xref: EFO:1002019
xref: MESH:C536312
is_a: DOID:676 ! juvenile rheumatoid arthritis

[Term]
id: DOID:9008277
name: Short Limb Dwarf Lethal Colavita Kozlowski Type
synonym: "Colavita Kozlowski syndrome" EXACT []
xref: MESH:C537597
xref: RDO:0003468
is_a: DOID:13481 ! thanatophoric dysplasia

[Term]
id: DOID:9008278
name: Preeclampsia/Eclampsia 3
alt_id: MIM:609403
synonym: "PEE3" EXACT []
xref: MESH:C563725
is_a: DOID:10591 ! pre-eclampsia

[Term]
id: DOID:9008279
name: Progressive Familial Intrahepatic Cholestasis 11
def: "A progressive familial intrahepatic cholestasis caused by homozygous mutation in the SEMA7A gene on chromosome 15q24." [MIM:619874]
synonym: "PFIC11" EXACT []
xref: MIM:619874
xref: MONDO:0030815
is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis
created_by: mtutaj
creation_date: 2022-05-11T16:29:15Z

[Term]
id: DOID:9008280
name: Holoprosencephaly 10
synonym: "Holoprosencephaly with Microphthalmia and First Branchial Arch Anomalies" EXACT []
xref: MESH:C567278
is_a: DOID:0060412 ! chromosome 1q41-q42 deletion syndrome
is_a: DOID:10629 ! microphthalmia
is_a: DOID:4621 ! holoprosencephaly
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9008281
name: Factor XIII, B Subunit, Deficiency Of
alt_id: MIM:613235
xref: MESH:C567688
is_a: DOID:2211 ! factor XIII deficiency

[Term]
id: DOID:9008282
name: Diastolic Hypertension, Resistance to
alt_id: MIM:608622
alt_id: RDO:0013032
xref: MESH:C563897
is_a: DOID:10763 ! hypertension

[Term]
id: DOID:9008283
name: Selective Tooth Agenesis 7
synonym: "LRP6-RELATED CONDITION" BROAD []
synonym: "STHAG7" EXACT []
xref: MIM:616724
is_a: DOID:0050591 ! tooth agenesis

[Term]
id: DOID:9008284
name: Winter Harding Hyde Syndrome
synonym: "Pachygyria joint contractures facial abnormalities" EXACT []
xref: MESH:C536712
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9006836 ! Contracture
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008285
name: Leriche Syndrome
def: "A condition caused by occlusion of terminal aorta, the primary branches of the ABDOMINAL AORTA, as in aortoiliac obstruction. Leriche syndrome usually occurs in males and is characterized by IMPOTENCE, absence of a pulse in the femoral arteries, weakness and numbness in the lower back, buttocks, hips, and lower limbs." [MESH:D007925]
synonym: "Leriche's Syndrome" EXACT []
synonym: "Leriches Syndrome" EXACT []
xref: MESH:D007925
xref: RDO:0005981
is_a: DOID:225 ! syndrome
is_a: DOID:520 ! aortic disease
is_a: DOID:9006474 ! Arterial Occlusive Diseases

[Term]
id: DOID:9008286
name: Experimental Autoimmune Myasthenia Gravis
alt_id: RDO:0007422
def: "Any autoimmune animal disease model used in the study of MYASTHENIA GRAVIS. Injection with purified neuromuscular junction acetylcholine receptor (AChR) (see RECEPTORS, CHOLINERGIC) components results in a myasthenic syndrome that has acute and chronic phases. The motor endplate pathology, loss of acetylcholine receptors, presence of circulating anti-AChR antibodies, and electrophysiologic changes make this condition virtually identical to human myasthenia gravis. Passive transfer of AChR antibodies or lymphocytes from afflicted animals to normals induces passive transfer experimental autoimmune myasthenia gravis. (From Joynt, Clinical Neurology, 1997, Ch 54, p3)" [MESH:D020720]
synonym: "EAMG" EXACT []
synonym: "Experimental Myasthenia" EXACT []
synonym: "Experimental Myasthenia Gravis" EXACT []
synonym: "Experimental Myasthenias" EXACT []
synonym: "Passive Transfer Experimental Autoimmune Myasthenia Gravis" EXACT []
xref: MESH:D020720
is_a: DOID:437 ! myasthenia gravis
is_a: DOID:9000990 ! Experimental Nervous System Autoimmune Disease

[Term]
id: DOID:9008287
name: Gomez Lopez Hernandez Syndrome
alt_id: MIM:601853
synonym: "cerebello-trigeminal-dermal dysplasia" EXACT []
synonym: "cerebellotrigeminal dermal dysplasia" EXACT []
synonym: "GLHS" EXACT []
synonym: "GLH Syndrome" EXACT []
xref: MESH:C537285
is_a: DOID:9001734 ! Neurocutaneous Syndromes
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9008288
name: Visceral Heterotaxy 5, Autosomal
synonym: "HTX5" EXACT []
synonym: "NODAL-related disorder" RELATED []
synonym: "NODAL-related disorders" RELATED []
synonym: "situs invertus viscerum" BROAD []
synonym: "SIV" EXACT []
xref: MIM:270100
is_a: DOID:0050545 ! visceral heterotaxy
is_a: DOID:758 ! situs inversus

[Term]
id: DOID:9008289
name: Tiglic Acidemia
alt_id: MIM:275190
synonym: "Disorder of isoleucine metabolism" EXACT []
xref: MESH:C536921
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9008290
name: Knee Injuries
def: "Injuries to the knee or the knee joint." [MESH:D007718]
synonym: "Knee Injury" EXACT []
xref: EFO:0009507
xref: MESH:D007718
is_a: DOID:9008911 ! Leg Injuries

[Term]
id: DOID:9008291
name: Herpetic Stomatitis
def: "Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents." [MESH:D013283]
synonym: "Herpetic Gingivostomatitides" EXACT []
synonym: "Herpetic Gingivostomatitis" EXACT []
synonym: "Herpetic Stomatitides" EXACT []
synonym: "Oral Herpes Simplex" EXACT []
xref: EFO:0007307
xref: MESH:D013283
is_a: DOID:8566 ! herpes simplex
is_a: DOID:9637 ! stomatitis

[Term]
id: DOID:9008292
name: Dystonia with Cerebellar Atrophy
alt_id: MIM:611694
synonym: "DYTCA" EXACT []
xref: MESH:C567131
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:543 ! dystonia

[Term]
id: DOID:9008295
name: Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies
alt_id: MIM:251700
xref: MESH:C566884
is_a: DOID:10629 ! microphthalmia
is_a: DOID:8466 ! retinal degeneration
is_a: DOID:9834 ! hyperopia

[Term]
id: DOID:9008296
name: Eye Abnormalities
def: "Congenital absence of or defects in structures of the eye; may also be hereditary." [MESH:D005124]
synonym: "ABNORMAL ANTERIOR EYE SEGMENT MORPHOLOGY" NARROW []
synonym: "ABNORMALITY OF THE EYE" EXACT []
synonym: "eye abnormality" EXACT []
synonym: "OCULAR ANOMALIES" EXACT []
xref: HP:0004328
xref: MESH:D005124
xref: MP:0005193
is_a: DOID:5614 ! eye disease
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9008297
name: Motor Disorders
def: "Motor skills deficits that significantly and persistently interfere with ACTIVITIES OF DAILY LIVING appropriate to chronological age. (from DSM-V)" [MESH:D000068079]
xref: MESH:D000068079
is_a: DOID:150 ! disease of mental health

[Term]
id: DOID:9008298
name: Pulmonary Atresia with Ventricular Septal Defect
alt_id: MIM:178370
xref: MESH:C562833
is_a: DOID:1681 ! heart septal defect
is_a: DOID:9007098 ! Pulmonary Atresia

[Term]
id: DOID:9008299
name: Mediastinal Neoplasms
def: "Tumors or cancer of the MEDIASTINUM." [MESH:D008479]
synonym: "Mediastinal Neoplasm" EXACT []
synonym: "Mediastinum Neoplasm" EXACT []
synonym: "Mediastinum Neoplasms" EXACT []
xref: MESH:D008479
is_a: DOID:9007003 ! Mediastinal Diseases
is_a: DOID:9007920 ! Thoracic Neoplasms

[Term]
id: DOID:9008300
name: Nephrotic Syndrome with Ocular Anomalies
synonym: "familial infantile nephrotic syndrome with ocular abnormalities" EXACT []
synonym: "Glastre Cochat Bouvier syndrome" EXACT []
synonym: "nephrotic syndrome ocular anomalies" EXACT []
xref: MESH:C536403
is_a: DOID:1184 ! nephrotic syndrome
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9008301
name: Pseudo-Zellweger Syndrome
synonym: "Pseudo Zellweger syndrome leukodystrophy" EXACT []
xref: MESH:C535818
is_a: DOID:225 ! syndrome
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:9008302
name: Hereditary Vertical Nystagmus
alt_id: MIM:164150
synonym: "Congenital hereditary vertical nystagmus" EXACT []
xref: MESH:C537857
is_a: DOID:9650 ! pathologic nystagmus

[Term]
id: DOID:9008303
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES
alt_id: DOID:9008904
def: "This disease is an autosomal recessive disorder characterized by hypotonia apparent from early infancy, global developmental delay with severely impaired intellectual development, and early-onset seizures. Heterozygous mutation carriers show a milder neurocognitive disorder with learning disabilities, similar to chromosome 15q13.3 deletion syndrome." [MIM:620790]
synonym: "NEDHS" EXACT []
synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES" EXACT []
xref: MIM:620790
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulederkind
creation_date: 2024-05-28T12:20:03Z

[Term]
id: DOID:9008304
name: Familial Multiple Coagulation Factor Deficiency V
alt_id: MIM:134520
synonym: "Factors VIII, IX and XI, Combined Deficiency of" EXACT []
synonym: "FMFD V" EXACT []
synonym: "MCFD5" EXACT []
synonym: "Multiple Coagulation Factor Deficiency V" EXACT []
xref: MESH:C565023
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:9008305
name: Talipes Cavus
def: "A foot deformity in which the arch of the foot is high and often the heel adducted." [MESH:D000070589]
synonym: "Cavovarus Foot Deformities" EXACT []
synonym: "Cavovarus Foot Deformity" EXACT []
synonym: "Cavus Deformities" EXACT []
synonym: "Cavus Deformity" EXACT []
synonym: "Cavus Foot" EXACT []
synonym: "High Arched Foot" EXACT []
synonym: "Pes Cavus" EXACT []
xref: MESH:D000070589
is_a: DOID:9007152 ! Talipes

[Term]
id: DOID:9008306
name: Common Ventricle
alt_id: RDO:9001096
def: "Rare congenital heart malformation with a single ventricle (HEART VENTRICLES) instead of the usual two." [MESH:D000080039]
synonym: "Absence of Interventricular Septum" EXACT []
synonym: "Single Ventricle" EXACT []
synonym: "Univentricular Heart" EXACT []
xref: MESH:D000080039
is_a: DOID:1657 ! ventricular septal defect

[Term]
id: DOID:9008307
name: Slti Salem Syndrome
synonym: "Hypogonadism and frontoparietal alopecia" EXACT []
synonym: "Hypogonadotropic hypogonadism alopecia" EXACT []
xref: MESH:C536673
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9008308
name: Poor Drug Metabolism, CYP2C19-Related
alt_id: MIM:609535
synonym: "CLOPIDOGREL, POOR METABOLISM OF" NARROW []
synonym: "CYP2C19: DECREASED FUNCTION" NARROW []
synonym: "CYP2C19: NO FUNCTION" NARROW []
synonym: "CYP2C19: UNCERTAIN FUNCTION" NARROW []
synonym: "MEPHENYTOIN, POOR METABOLISM OF" NARROW []
synonym: "OMEPRAZOLE, POOR METABOLISM OF" NARROW []
synonym: "poor metabolism of proguanil" NARROW []
xref: MESH:C563703
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9008309
name: Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia
xref: MESH:C563617
xref: RDO:0012830
is_a: DOID:9007571 ! Hyperlipoproteinemias

[Term]
id: DOID:9008310
name: Preaxial Polydactyly IV
alt_id: MIM:174700
def: "Although both preaxial polydactyly and syndactyly are cardinal features of this malformation, it is classified as a form of polydactyly because syndactyly does not occur in the absence of polydactyly, the opposite not being true. On the other hand, polysyndactyly is here classified as a type of syndactyly because polydactyly (of the third or fourth fingers and fifth toes) does not occur in the absence of syndactyly. The thumb shows only the mildest degree of duplication, and syndactyly of various degrees affects fingers 3 and 4. The foot malformation is more constant and consists of duplication of part or all of the first or second toes and syndactyly affects all of the toes, especially the second and third. Some cases of preaxial polydactyly type IV are caused by heterozygous mutation in the GLI3 gene on chromosome 7p14. (OMIM)" []
synonym: "CP1" NARROW []
synonym: "CROSSED POLYDACTYLY, TYPE I" NARROW []
synonym: "PPD4" EXACT []
synonym: "preaxial polydactyly 4" EXACT []
synonym: "uncomplicated polysyndactyly" EXACT []
xref: MESH:C536333
is_a: DOID:9005329 ! Preaxial Polydactyly

[Term]
id: DOID:9008311
name: Agammaglobulinemia, Non-Bruton Type, Autosomal Recessive
synonym: "Agammaglobulinemia due to early proB cell defect" EXACT []
xref: MESH:C538056
is_a: DOID:2583 ! agammaglobulinemia

[Term]
id: DOID:9008312
name: Rombo Syndrome
alt_id: MIM:180730
xref: MESH:C535870
is_a: DOID:225 ! syndrome
is_a: DOID:2513 ! basal cell carcinoma
is_a: DOID:3134 ! facial dermatosis
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:9000781 ! Cyanosis
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:9008313
name: Febrile Neutropenia
def: "Fever accompanied by a significant reduction in the number of NEUTROPHILS." [MESH:D064147]
synonym: "Febrile Neutropenias" EXACT []
xref: MESH:D064147
is_a: DOID:1227 ! neutropenia

[Term]
id: DOID:9008314
name: Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant
alt_id: MIM:605827
synonym: "GBFHS" EXACT []
xref: MESH:C565284
is_a: DOID:9007168 ! Genetic Skin Diseases
is_a: DOID:9007253 ! Hamartoma

[Term]
id: DOID:9008315
name: Dilated Cardiomyopathy 2H
def: "An autosomal recessive disorder characterized by rapidly progressive dilated cardiomyopathy and death in early infancy. Caused by compound heterozygous mutation in the GET3 gene on chromosome 19p13." [MIM:620203]
synonym: "CMD2H" EXACT []
xref: MIM:620203
is_a: DOID:12930 ! dilated cardiomyopathy
created_by: mtutaj
creation_date: 2023-01-18T10:25:30Z

[Term]
id: DOID:9008316
name: Microphthalmia/Coloboma  1
alt_id: MIM:300345
synonym: "colobomatous microphthalmia-1" EXACT []
synonym: "isolated colobomatous microphthalmia 1" EXACT []
synonym: "isolated microphthalmia with coloboma 1" EXACT []
synonym: "MCOPCB1" EXACT []
xref: MESH:C564531
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma

[Term]
id: DOID:9008318
name: Ectrodactyly Cardiopathy Dysmorphism
synonym: "Ectrodactyly of lower limbs, congenital heart defect and characteristic facies" EXACT []
synonym: "Van Den Ende Brunner syndrome" EXACT []
xref: MESH:C536187
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital

[Term]
id: DOID:9008319
name: Purpura Simplex
alt_id: MIM:179000
synonym: "Hereditary familial purpura simplex" EXACT []
xref: MESH:C536249
is_a: DOID:3326 ! purpura

[Term]
id: DOID:9008320
name: Craniosynostosis with Fibular Aplasia
alt_id: MIM:218550
xref: MESH:C565665
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:9008321
name: Osteoradionecrosis
def: "Necrosis of bone following radiation injury." [MESH:D010025]
synonym: "Osteoradionecroses" EXACT []
xref: EFO:1001821
xref: MESH:D010025
is_a: DOID:9000111 ! Radiation Injuries

[Term]
id: DOID:9008323
name: Epilepsy Telangiectasia
alt_id: MIM:226850
xref: MESH:C535497
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11702 ! dysgammaglobulinemia
is_a: DOID:1272 ! telangiectasis
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:9008324
name: Congenital Indifference to Pain, Autosomal Recessive
alt_id: MIM:243000
synonym: "Asymbolia for Pain" EXACT []
synonym: "CIP" EXACT []
synonym: "Congenital Analgesia, Autosomal Recessive" EXACT []
synonym: "hereditary sensory and autonomic neuropathy type IID" NARROW []
synonym: "HSAN2D" NARROW []
xref: MESH:C565467
is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2
is_a: DOID:9003516 ! Channelopathies
is_a: DOID:9008482 ! Congenital Pain Insensitivity

[Term]
id: DOID:9008325
name: Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death
alt_id: MIM:610001
xref: MESH:C535381
is_a: DOID:0060320 ! inguinal hernia
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9008326
name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES
def: "This disease is a phenotypically heterogeneous neurologic disorder. Affected individuals may show early motor delay, speech and language delay, impaired intellectual development, learning disabilities, and/or behavioral abnormalities, although the severity and manifestations vary widely. Repetitive behavior and sleep difficulties are commonly present." [MIM:620502]
synonym: "NEDLC" EXACT []
xref: MIM:620502
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005466 ! Language Development Disorders
created_by: slaulederkind
creation_date: 2024-06-14T11:02:52Z

[Term]
id: DOID:9008327
name: Bone Cysts
def: "Benign unilocular lytic areas in the proximal end of a long bone with well defined and narrow endosteal margins. The cysts contain fluid and the cyst walls may contain some giant cells. Bone cysts usually occur in males between the ages 3-15 years." [MESH:D001845]
synonym: "Bone Cyst" EXACT []
synonym: "Intra Osseous Ganglia" EXACT []
synonym: "Intraosseous Ganglia" EXACT []
synonym: "Intra-Osseous Ganglias" EXACT []
synonym: "Intraosseous Ganglias" EXACT []
synonym: "Intra Osseous Ganglion" EXACT []
synonym: "Intraosseous Ganglion" EXACT []
synonym: "Intra-Osseous Ganglions" EXACT []
synonym: "Intraosseous Ganglions" EXACT []
synonym: "Solitary Cyst" EXACT []
synonym: "Solitary Cysts" EXACT []
synonym: "Subchondral Cyst" EXACT []
synonym: "Subchondral Cysts" EXACT []
xref: MESH:D001845
xref: RDO:0001863
is_a: DOID:0080001 ! bone disease
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9008328
name: Familial Osteoma of Cranial Vault
alt_id: MIM:603600
xref: MESH:C566356
is_a: DOID:9001331 ! Skull Neoplasms
is_a: DOID:9004412 ! Osteoma

[Term]
id: DOID:9008330
name: Serrated Polyposis
synonym: "Colon Serrated Polyposis" EXACT []
synonym: "Serrated polyp of colon" EXACT []
synonym: "Serrated Polyposis Syndrome" RELATED []
is_a: DOID:6225 ! Cronkhite-Canada syndrome
created_by: rgd
creation_date: 2015-06-17T00:00:00Z

[Term]
id: DOID:9008331
name: Tendon Injuries
def: "Injuries to the fibrous cords of connective tissue which attach muscles to bones or other structures." [MESH:D013708]
synonym: "Achilles tendon injury" NARROW []
synonym: "Tendon Injury" EXACT []
xref: EFO:0600078
xref: MESH:D013708
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9008332
name: Palmoplantar Keratoderma, Spastic Paralysis
synonym: "Axonal neuropathy with palmoplantar keratoderma" EXACT []
synonym: "Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy" EXACT []
synonym: "palmoplantar hyperkeratosis-spastic paralysis syndrome" EXACT []
synonym: "palmoplantar keratoderma with nail dystrophy and hereditary motor-sensory neuropathy" EXACT []
synonym: "Powell-Venencie-Gordon syndrome" EXACT []
xref: GARD:3095
xref: MESH:C536153
xref: MIM:148360
xref: MONDO:0016353
xref: ORDO:2201
is_a: DOID:10595 ! Charcot-Marie-Tooth disease
is_a: DOID:3390 ! palmoplantar keratosis
is_a: DOID:4123 ! nail disease

[Term]
id: DOID:9008333
name: Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3
synonym: "congenital NAD deficiency disorder 3" EXACT []
synonym: "NADSYN1-RELATED CONDITION" EXACT []
synonym: "VCRL3" EXACT []
xref: MIM:618845
is_a: DOID:9008119 ! Vertebral, Cardiac, Renal, and Limb Defects Syndromes
created_by: mtutaj
creation_date: 2020-05-07T11:25:15Z

[Term]
id: DOID:9008334
name: Striatonigral Degeneration, Infantile
alt_id: MIM:271930
synonym: "familial striatal degeneration" EXACT []
synonym: "IBSN" EXACT []
synonym: "infantile bilateral striatal necrosis" EXACT []
synonym: "SNDI" EXACT []
xref: MESH:C537500
is_a: DOID:4751 ! striatonigral degeneration

[Term]
id: DOID:9008335
name: Mesomycetozoea Infections
def: "Infections by MESOMYCETOZOEA, general or unspecified." [MESH:D050738]
synonym: "Mesomycetozoea Infection" EXACT []
xref: MESH:D050738
is_a: DOID:1398 ! parasitic infectious disease

[Term]
id: DOID:9008338
name: Split-Foot Malformation with Mesoaxial Polydactyly
synonym: "SFMMP" EXACT []
xref: MIM:616890
is_a: DOID:0090020 ! split hand-foot malformation
is_a: DOID:1148 ! polydactyly
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9008339
name: Tension-Type Headache
def: "A common primary headache disorder, characterized by a dull, non-pulsatile, diffuse, band-like (or vice-like) PAIN of mild to moderate intensity in the HEAD; SCALP; or NECK. The subtypes are classified by frequency and severity of symptoms. There is no clear cause even though it has been associated with MUSCLE CONTRACTION and stress. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" [MESH:D018781]
synonym: "Idiopathic Headache" EXACT []
synonym: "Idiopathic Headaches" EXACT []
synonym: "Psychogenic Headache" EXACT []
synonym: "Psychogenic Headaches" EXACT []
synonym: "Stress Headache" EXACT []
synonym: "Stress Headaches" EXACT []
synonym: "Tension Headache" EXACT []
synonym: "Tension Headaches" EXACT []
synonym: "Tension-Type Headaches" EXACT []
synonym: "Tension Vascular Headache" EXACT []
synonym: "Tension-Vascular Headaches" EXACT []
xref: MESH:D018781
xref: RDO:0007231
is_a: DOID:9001144 ! Primary Headache Disorders

[Term]
id: DOID:9008340
name: Combined Pituitary Hormone Deficiency 2
synonym: "ateliotic dwarfism with hypogonadism" EXACT []
synonym: "COMBINED PITUITARY HORMONE DEFICIENCY, RECESSIVE" EXACT []
synonym: "COMBINED PITUITARY HORMONE DEFICIENCY TYPE 2" EXACT []
synonym: "CPHD2" EXACT []
synonym: "Hanhart Dwarfism" EXACT []
synonym: "pituitary dwarfism III" EXACT []
xref: MESH:C563172
xref: MIM:262600
xref: MONDO:0009878
is_a: DOID:0060870 ! isolated growth hormone deficiency
is_a: DOID:9410 ! panhypopituitarism

[Term]
id: DOID:9008341
name: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY
def: "This is a disease characterized by a variable phenotype ranging from no clinical symptoms (most patients) to episodes of encephalopathy and Leigh syndrome-like (see 256000) brain lesions, with acute symptoms triggered by infections and fasting." [MIM:619221]
synonym: "SQORD" EXACT []
xref: MIM:619221
is_a: DOID:655 ! inherited metabolic disorder
created_by: slaulede
creation_date: 2021-04-16T12:23:33Z

[Term]
id: DOID:9008342
name: Johnson Munson Syndrome
alt_id: MIM:207620
synonym: "Aphalangy of the hands and feet, hemivertebrae, and visceral malformations" EXACT []
synonym: "Aphalangy with Hemivertebrae" EXACT []
xref: MESH:C535881
xref: RDO:0001235
is_a: DOID:225 ! syndrome
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9000545 ! Ectromelia
is_a: DOID:9004795 ! Congenital Hand Deformities

[Term]
id: DOID:9008343
name: Camptodactyly Syndrome Guadalajara Type 3
alt_id: MIM:611929
synonym: "Camptodactyly Syndrome, Guadalajara, Type III" EXACT []
xref: GARD:10573
xref: MESH:C567455
is_a: DOID:0080016 ! spina bifida
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9008935 ! Camptodactyly Syndrome Guadalajara Type

[Term]
id: DOID:9008344
name: Invasive Breast Carcinoma
def: "This is a carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." [NCI:C9245]
synonym: "infiltrating breast cancer" EXACT []
synonym: "infiltrating carcinoma of breast" EXACT []
synonym: "invasive breast cancer" EXACT []
synonym: "invasive carcinoma of the breast" EXACT []
synonym: "invasive mammary carcinoma" EXACT []
xref: EFO:1000307
is_a: DOID:3459 ! breast carcinoma
created_by: slaulede
creation_date: 2023-02-03T16:49:30Z

[Term]
id: DOID:9008346
name: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY
def: "An autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features. (OMIM)" []
synonym: "KIDINS220-RELATED CONDITION" BROAD []
synonym: "SINO" EXACT []
xref: MIM:617296
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:9649 ! congenital nystagmus
is_a: DOID:9970 ! obesity
created_by: rgd
creation_date: 2017-04-06T00:00:00Z

[Term]
id: DOID:9008347
name: Benign Neonatal Epilepsy 1, and/or Myokymia
xref: MESH:C567743
is_a: DOID:14777 ! benign familial neonatal epilepsy
is_a: DOID:9003935 ! Myokymia
is_a: DOID:9006888 ! Benign Neonatal Epilepsy, 1

[Term]
id: DOID:9008348
name: Male Urogenital Diseases
def: "Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE)." [MESH:D052801]
subset: RGD_JBrowse_slim
synonym: "Male Genitourinary Disease" EXACT []
synonym: "Male Genitourinary Diseases" EXACT []
synonym: "Male Urogenital Disease" EXACT []
xref: MESH:D052801
is_a: DOID:9009146 ! Urogenital Diseases

[Term]
id: DOID:9008349
name: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT
def: "This disease is an autosomal recessive disorder of copper transport characterized by hypotonia, global developmental delay, seizures, and rapid brain atrophy." [MIM:620306]
synonym: "NSCT" EXACT []
xref: MIM:620306
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:1826 ! epilepsy
created_by: slaulede
creation_date: 2023-06-20T09:15:41Z

[Term]
id: DOID:9008350
name: NATURAL KILLER CELL ENTEROPATHY
def: "A benign natural killer (NK) cell lymphoproliferative disease with characteristics of minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma." [url:https\://www.nlm.nih.gov/healthit/snomedct/us_edition.html]
synonym: "NK (natural killer) cell enteropathy" EXACT []
synonym: "NK-cell enteropathy" EXACT []
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:77 ! gastrointestinal system disease
created_by: slaulede
creation_date: 2020-01-14T12:52:02Z

[Term]
id: DOID:9008351
name: Febrile Seizures Associated with Afebrile Seizures
xref: MESH:C565813
is_a: DOID:9007956 ! Febrile Seizures

[Term]
id: DOID:9008353
name: Abnormal Neutrophil Chemotactic Response
synonym: "abnormal leukocyte motility" EXACT []
synonym: "abnormal neutrophil migration" EXACT []
synonym: "abnormal neutrophil motility" EXACT []
synonym: "NCR" EXACT []
synonym: "neutrophil chemotactic response" EXACT []
synonym: "neutrophil migration" EXACT []
synonym: "NM" EXACT []
xref: MESH:C563515
is_a: DOID:2914 ! immune system disease
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9008354
name: Secretory Component Deficiency
alt_id: MIM:269650
alt_id: RDO:0012403
synonym: "secretory IgA deficiency" EXACT []
xref: MESH:C562869
is_a: DOID:0060025 ! immunoglobulin alpha deficiency

[Term]
id: DOID:9008355
name: Adrenocortical Hypofunction, Chronic Primary Congenital
alt_id: MIM:103230
synonym: "Congenital Addison Disease" EXACT []
xref: MESH:C562711
is_a: DOID:13774 ! Addison's disease
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9008357
name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related
synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related" EXACT []
xref: MIM:PS614742
is_a: DOID:3770 ! pulmonary fibrosis
is_a: DOID:9007222 ! Bone Marrow Failure Disorders
created_by: mtutaj
creation_date: 2019-03-19T14:23:29Z

[Term]
id: DOID:9008358
name: Radioulnar Synostosis Retinal Pigment Abnormalities
xref: MESH:C536270
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9827 ! radioulnar synostosis

[Term]
id: DOID:9008359
name: Acute Pain
def: "Intensely discomforting, distressful, or agonizing sensation associated with trauma or disease, with well-defined location, character, and timing." [MESH:D059787]
synonym: "Acute Pains" EXACT []
xref: MESH:D059787
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9008361
name: Eye Foreign Bodies
def: "Inanimate objects that become enclosed in the eye." [MESH:D005129]
synonym: "Eye Foreign Body" EXACT []
synonym: "Eye Foreign Object" EXACT []
synonym: "Eye Foreign Objects" EXACT []
xref: EFO:1001322
xref: MESH:D005129
xref: RDO:0005556
is_a: DOID:9003074 ! Foreign Bodies
is_a: DOID:9006447 ! Eye Injuries

[Term]
id: DOID:9008363
name: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT
synonym: "GDDI" EXACT []
xref: EFO:0010260
xref: MIM:618330
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2019-07-09T11:12:04Z

[Term]
id: DOID:9008364
name: Visceral Heterotaxy 7, Autosomal
synonym: "HTX7" EXACT []
synonym: "MMP21-RELATED CONDITION" EXACT []
xref: MIM:616749
is_a: DOID:0050545 ! visceral heterotaxy

[Term]
id: DOID:9008365
name: Pseudoacromegaly with Severe Insulin Resistance
alt_id: MIM:602511
xref: MESH:C566531
is_a: DOID:2449 ! acromegaly
is_a: DOID:9007692 ! Insulin Resistance

[Term]
id: DOID:9008366
name: Meningococcal Infections
def: "Infections with bacteria of the species NEISSERIA MENINGITIDIS." [MESH:D008589]
synonym: "Meningococcal Infection" EXACT []
xref: EFO:0004249
xref: MESH:D008589
xref: RDO:0006108
is_a: DOID:9008538 ! Neisseriaceae Infections

[Term]
id: DOID:9008368
name: Bird Headed Dwarfism Montreal Type
alt_id: MIM:210700
synonym: "Bird-headed dwarfism with features of premature senility" EXACT []
synonym: "MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE" EXACT []
xref: MESH:C535448
is_a: DOID:3911 ! progeria
is_a: DOID:421 ! hair disease
is_a: DOID:9001682 ! Nose Deformities, Acquired
is_a: DOID:9005616 ! Micrognathism
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9008369
name: Pseudomonilethrix
alt_id: MIM:177750
synonym: "pseudo-monilethrix" EXACT []
xref: MESH:C562988
is_a: DOID:421 ! hair disease

[Term]
id: DOID:9008370
name: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY
def: "An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, ataxia, and muscular hypotonia." [EFO:0010560]
synonym: "NEDAHM" EXACT []
xref: EFO:0010560
xref: MIM:618569
is_a: DOID:1059 ! intellectual disability
is_a: DOID:10907 ! microcephaly
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulede
creation_date: 2023-01-03T14:10:00Z

[Term]
id: DOID:9008371
name: Carnitine Acetyltransferase Deficiency
alt_id: MIM:606175
xref: MESH:C563249
is_a: DOID:562 ! third cranial nerve disease
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9000348 ! Confusion
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9005603 ! Muscle Hypotonia

[Term]
id: DOID:9008372
name: Cervicofacial Actinomycosis
def: "A form of ACTINOMYCOSIS characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses." [MESH:D000197]
synonym: "cervicofacial actinomycoses" EXACT []
xref: EFO:0007203
xref: MESH:D000197
is_a: DOID:8478 ! actinomycosis
is_a: DOID:9003209 ! Bacterial Skin Diseases

[Term]
id: DOID:9008373
name: Conjoined Twins
def: "MONOZYGOTIC TWINS who are joined in utero. They may be well developed and share only a superficial connection, often in the frontal, transverse or sagittal body plane, or they may share a partial duplication of a body structure. Alternatively, there may be a small and incompletely developed twin conjoined to a larger, more fully developed twin." [MESH:D014428]
synonym: "Conjoined Twin" EXACT []
synonym: "Siamese Twin" EXACT []
synonym: "Siamese Twins" EXACT []
xref: MESH:D014428
is_a: DOID:9004061 ! Abnormalities, Severe Teratoid

[Term]
id: DOID:9008374
name: Chromosome 9, Duplication 9q21
synonym: "Disomy 9q21" EXACT []
synonym: "Duplication 9q21" EXACT []
xref: MESH:C538023
xref: RDO:0003957
is_a: DOID:9008692 ! Aneuploidy

[Term]
id: DOID:9008375
name: finger fractures
def: "These are traumatic breaks in one or more of the bones in one of the digits of the hand." [NCI:C27072]
synonym: "broken finger" EXACT []
synonym: "finger fracture" EXACT []
xref: EFO:0009616
is_a: DOID:9001667 ! Finger Injuries
is_a: DOID:9002589 ! Bone Fractures
created_by: slaulede
creation_date: 2023-02-16T10:31:39Z

[Term]
id: DOID:9008376
name: Brachydactylous Dwarfism Mseleni Type
alt_id: MIM:613342
synonym: "Brachydactylous dwarfs of Mseleni" EXACT []
xref: MESH:C537086
is_a: DOID:381 ! arthropathy
is_a: DOID:8398 ! osteoarthritis
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9008377
name: Psychological Trauma
def: "Overwhelming emotional damage caused by a distressful event or series of events." [MESH:D000067073]
xref: MESH:D000067073
is_a: DOID:6088 ! acute stress disorder

[Term]
id: DOID:9008378
name: Adipose Tissue Neoplasms
alt_id: RDO:0006016
def: "Neoplasms composed of fatty tissue or connective tissue made up of fat cells in a meshwork of areolar tissue. The concept does not refer to neoplasms located in adipose tissue." [MESH:D018205]
synonym: "Adipose Tissue Neoplasm" EXACT []
xref: MESH:D018205
is_a: DOID:9008612 ! Connective and Soft Tissue Neoplasms

[Term]
id: DOID:9008379
name: Say Field Coldwell Syndrome
alt_id: MIM:190650
synonym: "Triphalangeal thumbs and dislocation of patella" EXACT []
xref: MESH:C536619
is_a: DOID:225 ! syndrome
is_a: DOID:9004266 ! Patellar Dislocation
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008380
name: Radial Ray Deficiency, X-Linked
alt_id: MIM:300378
synonym: "RRDX" EXACT []
xref: MESH:C564523
xref: RDO:0013460
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0060770 ! dextro-looped transposition of the great arteries
is_a: DOID:1882 ! atrial heart septal defect
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9008381
name: Chronic Brain Damage
def: "A condition characterized by long-standing brain dysfunction or damage, usually of three months duration or longer. Potential etiologies include BRAIN INFARCTION; certain NEURODEGENERATIVE DISORDERS; CRANIOCEREBRAL TRAUMA; ANOXIA, BRAIN; ENCEPHALITIS; certain NEUROTOXICITY SYNDROMES; metabolic disorders (see BRAIN DISEASES, METABOLIC); and other conditions." [MESH:D001925]
synonym: "Chronic Encephalopathy" EXACT []
xref: MESH:D001925
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9008382
name: Chromosome 9, Trisomy Mosaic
synonym: "Trisomy 9 mosaic" EXACT []
synonym: "Trisomy 9 mosaicism" EXACT []
synonym: "Uniparental disomy of 9" EXACT []
xref: MESH:C535454
xref: RDO:0000574
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:9008383
name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
def: "This disease is characterized by a proteasome-associated autoinflammatory syndrome with immunodeficiency." [MIM:620796]
synonym: "PRAAS6" EXACT []
xref: MIM:620796
is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome
created_by: slaulederkind
creation_date: 2024-06-17T12:32:57Z

[Term]
id: DOID:9008384
name: Tonsillar Neoplasms
def: "Tumors or cancer of the PALATINE TONSIL." [MESH:D014067]
synonym: "Tonsillar Neoplasm" EXACT []
synonym: "Tonsil Neoplasm" EXACT []
synonym: "Tonsil Neoplasms" EXACT []
xref: MESH:D014067
xref: NCI:C3417
is_a: DOID:9000906 ! Oropharyngeal Neoplasms

[Term]
id: DOID:9008385
name: Vomiting
def: "The forcible expulsion of the contents of the STOMACH through the MOUTH." [MESH:D014839]
synonym: "Emesis" EXACT []
xref: MESH:D014839
is_a: DOID:9003977 ! Digestive Signs and Symptoms

[Term]
id: DOID:9008386
name: Hydrops Fetalis
alt_id: MIM:236750
def: "Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS." [MESH:D015160]
synonym: "familial non immune hydrops fetalis" EXACT []
synonym: "fetal edema" EXACT []
synonym: "Fetal Hydrops" EXACT []
synonym: "HEMOGLOBIN H HYDROPS FETALIS SYNDROME" NARROW []
synonym: "HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED" NARROW []
synonym: "Hydrops Fetalis Nonimmune" EXACT []
synonym: "Idiopathic Hydrops Fetali" EXACT []
synonym: "Idiopathic Hydrops Fetalis" EXACT []
synonym: "Immune Hydrops Fetalis" EXACT []
synonym: "MYOM1-RELATED NON-IMMUNE FETAL HYDROPS" NARROW []
synonym: "NIHF" EXACT []
synonym: "nonimmune hydrops fetali" EXACT []
synonym: "non-immune hydrops fetalis" EXACT []
xref: EFO:0009051
xref: MESH:D015160
xref: NCI:C84767
is_a: DOID:1098 ! hemolytic disease of the fetus
is_a: DOID:1099 ! alpha thalassemia
is_a: DOID:9000197 ! Edema

[Term]
id: DOID:9008387
name: Selective Tooth Agenesis 9
synonym: "STHAG9" EXACT []
xref: MIM:617275
is_a: DOID:0050591 ! tooth agenesis

[Term]
id: DOID:9008388
name: Trigonocephaly 1
synonym: "TRIGNO1" EXACT []
xref: MIM:190440
is_a: DOID:9007261 ! Nonsyndromic Trigonocephaly

[Term]
id: DOID:9008389
name: Dentin Dysplasia, Type 2
alt_id: RDO:0007950
synonym: "coronal dentin dysplasia" EXACT []
synonym: "dentin dysplasia, Shields type 2" EXACT []
synonym: "dentin dysplasia, Shields type II" EXACT []
synonym: "dentin dysplasia, type II" EXACT []
synonym: "DTDP2" EXACT []
xref: MIM:125420
is_a: DOID:5608 ! dental pulp calcification
is_a: DOID:701 ! dentin dysplasia

[Term]
id: DOID:9008390
name: Gas Bloat Syndrome
synonym: "Post-fundoplication syndrome" EXACT []
xref: MESH:C535647
is_a: DOID:225 ! syndrome
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9008391
name: Bilateral Striatal Necrosis with Dystonia
is_a: DOID:4751 ! striatonigral degeneration
is_a: DOID:543 ! dystonia

[Term]
id: DOID:9008392
name: Y Chromosome Infertility
synonym: "Y Chromosome-Related Azoospermia" EXACT []
xref: MESH:C580551
xref: RDO:0015939
is_a: DOID:14227 ! azoospermia

[Term]
id: DOID:9008393
name: Spinocerebellar Ataxia and Plaque-Like Deposits
xref: MESH:C566671
xref: RDO:0014967
is_a: DOID:9002121 ! Spinocerebellar Ataxias

[Term]
id: DOID:9008394
name: Drug-Induced Dyskinesia
def: "Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)" [MESH:D004409]
synonym: "Drug-Induced Dyskinesias" EXACT []
synonym: "Medication Induced Dyskinesia" EXACT []
synonym: "Medication-Induced Dyskinesias" EXACT []
xref: EFO:1000904
xref: MESH:D004409
is_a: DOID:3602 ! toxic encephalopathy
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9008395
name: Kozlowski Tsuruta Taki Syndrome
synonym: "Achondrogenesis-Kozlowski type" EXACT []
synonym: "Chondrodysplasia, lethal neonatal" EXACT []
xref: MESH:C537510
is_a: DOID:225 ! syndrome
is_a: DOID:2256 ! osteochondrodysplasia

[Term]
id: DOID:9008396
name: Erythropoietic Protoporphyria, X-Linked Dominant
alt_id: MIM:300752
synonym: "ALAS2-RELATED CONDITION" BROAD []
synonym: "ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED" EXACT []
synonym: "XLDPP" EXACT []
synonym: "XLDPT" EXACT []
synonym: "XLEPP" EXACT []
xref: EFO:0009064
xref: MESH:C567464
is_a: DOID:0080009 ! X-linked dominant disease
is_a: DOID:13270 ! erythropoietic protoporphyria

[Term]
id: DOID:9008397
name: Maternal Phenylketonuria
def: "A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)" [MESH:D017042]
synonym: "Maternal Phenylalanine Hydroxylase Deficiency Disease" EXACT []
synonym: "PKU, Maternal" EXACT []
synonym: "Pregnancy in Phenylketonuria" EXACT []
xref: MESH:D017042
xref: MONDO:0016366
is_a: DOID:9004702 ! Pregnancy Complications
is_a: DOID:9281 ! phenylketonuria

[Term]
id: DOID:9008399
name: FINCA Syndrome
synonym: "fibrosis, neurodegeneration, and cerebral angiomatosis" EXACT []
synonym: "FINCA" EXACT []
xref: MIM:618278
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:9000784 ! Fibrosis
is_a: DOID:9004079 ! Angiomatosis
created_by: mtutaj
creation_date: 2019-02-13T12:23:12Z

[Term]
id: DOID:9008400
name: Oculocerebral Hypopigmentation Syndrome Type Preus
synonym: "Cross syndrome" EXACT []
synonym: "Kramer Syndrome" EXACT []
synonym: "oculocerebral hypopigmentation syndrome of Preus" EXACT []
synonym: "oculocerebral syndrome with hypopigmentation" EXACT []
xref: MESH:C537866
xref: MIM:257790
xref: MIM:257800
xref: MONDO:0009766
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008401
name: Herpes Simplex Encephalitis 4
synonym: "acute encephalopathy, infection-induced (herpes-specific), susceptibility to, 6" EXACT []
synonym: "acute encephalopathy, infection-induced, susceptibility to, 6" RELATED []
synonym: "Herpes Simplex Encephalitis, Susceptibility To, 4" RELATED []
synonym: "IIAE6" EXACT []
xref: MIM:614850
is_a: DOID:9003870 ! Herpes Simplex Encephalitis

[Term]
id: DOID:9008402
name: Cyprus Facial Neuromusculoskeletal Syndrome
alt_id: MIM:123853
xref: MESH:C536229
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:225 ! syndrome
is_a: DOID:440 ! neuromuscular disease
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9008403
name: Combined Pituitary Hormone Deficiency 4
alt_id: MIM:262700
synonym: "combined pituitary hormone deficiency with or without cerebellar defects" EXACT []
synonym: "CPHD4" EXACT []
synonym: "short stature, pituitary and cerebellar defects, and small sella turcica" EXACT []
xref: MESH:C567492
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9410 ! panhypopituitarism

[Term]
id: DOID:9008404
name: Kousseff Nichols Syndrome
synonym: "Noonan like contracture myopathy hyperpyrexia" EXACT []
xref: MESH:C537504
xref: RDO:0003355
is_a: DOID:225 ! syndrome
is_a: DOID:3490 ! Noonan syndrome

[Term]
id: DOID:9008405
name: Mitochondrial Complex II Deficiency Nuclear Type 2
synonym: "MC2DN2" EXACT []
xref: MIM:619166
is_a: DOID:0060537 ! mitochondrial complex II deficiency
created_by: mtutaj
creation_date: 2021-02-01T15:47:00Z

[Term]
id: DOID:9008406
name: Congenital Deafness and Familial Myoclonic Epilepsy
alt_id: MIM:220300
xref: MESH:C565649
is_a: DOID:9005154 ! Myoclonic Epilepsies
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9008407
name: ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED
alt_id: MIM:300643
synonym: "RESDX" EXACT []
synonym: "Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked" EXACT []
synonym: "SRPX2-RELATED CONDITION" EXACT []
synonym: "X-linked Rolandic epilepsy, impaired intellectual development, and speech dyspraxia" EXACT []
synonym: "X-linked Rolandic epilepsy with mental retardation and speech dyspraxia" EXACT []
xref: MESH:C564467
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0060135 ! apraxia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:3329 ! benign epilepsy with centrotemporal spikes
is_a: DOID:92 ! speech disorder

[Term]
id: DOID:9008408
name: Mesomelic Limb Shortening and Bowing
alt_id: MIM:249710
xref: MESH:C565404
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008409
name: Pelvic Organ Prolapse
alt_id: MIM:176780
alt_id: MIM:613088
def: "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, DYSPAREUNIA; URINARY STRESS INCONTINENCE; and FECAL INCONTINENCE." [MESH:D056887]
synonym: "pelvic organ prolapses" EXACT []
synonym: "PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO" EXACT []
synonym: "PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 2" EXACT []
synonym: "PROLAPSE OF VAGINA AND RECTUM" EXACT []
synonym: "PVOP1" EXACT []
synonym: "PVOP2" EXACT []
synonym: "Urogenital Prolapse" EXACT []
synonym: "Urogenital Prolapses" EXACT []
synonym: "VAGINAL PROLAPSE  PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 1" EXACT []
synonym: "Vaginal Vault Prolapse" EXACT []
synonym: "vaginal vault prolapses" EXACT []
xref: EFO:0004710
xref: MESH:D056887
is_a: DOID:9006649 ! Prolapse

[Term]
id: DOID:9008410
name: Autoinflammation with Infantile Enterocolitis
def: "Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy." []
synonym: "AIFEC" EXACT []
synonym: "SYNDROME OF ENTERCOLITIS AND AUTOINFLMMATION CAUSED BY MUTATION OF NLRC4 (SCAN4)" EXACT []
synonym: "Syndrome Of Enterocolitis And Autoinflammation" EXACT []
xref: MIM:616050
is_a: DOID:9002805 ! Enterocolitis
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases

[Term]
id: DOID:9008412
name: Polyarteritis Nodosa, Childhood-Onset
def: "Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits. Some patients present with clinical immunodeficiency. VAIHS is caused by homozygous or compound heterozygous mutation in the ADA2 gene (CECR1) on chromosome 22q11. (OMIM)" []
synonym: "ADA2 Deficiency" EXACT []
synonym: "ADENOSINE DEAMINASE 2 DEFICIENCY" EXACT []
synonym: "DADA2" EXACT []
synonym: "DEFICIENCY OF ADENOSINE DEAMINASE 2" BROAD []
synonym: "PAN" EXACT []
synonym: "POLYARTERITIS NODOSA, CHILDHOOOD-ONSET" RELATED []
synonym: "VAIHS" EXACT []
synonym: "VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME" EXACT []
xref: EFO:0009295
xref: MIM:615688
is_a: DOID:9810 ! polyarteritis nodosa

[Term]
id: DOID:9008413
name: Oligoanuria
def: "Oliguria in which there is temporary anuria (complete cessation of urinary flow)." []
xref: RDO:9000077
is_a: DOID:2983 ! anuria
is_a: DOID:9008760 ! Oliguria

[Term]
id: DOID:9008414
name: Pulmonary Contusion
def: "Traumatic injury to the lung, resulting in hemorrhage." []
synonym: "lung contusion" EXACT []
synonym: "lung contusions" EXACT []
synonym: "pulmonary contusions" EXACT []
is_a: DOID:9000310 ! Lung Injury
is_a: DOID:9005166 ! Contusions
created_by: rgd
creation_date: 2016-06-03T00:00:00Z

[Term]
id: DOID:9008415
name: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY
def: "This disease is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB." [MIM:610600]
synonym: "ALDOSTERONE DEFICIENCY II" EXACT []
synonym: "CMO II DEFICIENCY" EXACT []
synonym: "CYP11B2-RELATED DISORDER" BROAD []
synonym: "EARLY-ONSET FAMILIAL HYPOALDOSTERONISM" BROAD []
synonym: "FAMILIAL HYPOALDOSTERONISM" BROAD []
synonym: "FHHA1B" EXACT []
synonym: "HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1B" EXACT []
synonym: "Hypoaldosteronism, congenital, due to CMO II deficiency" EXACT []
xref: MIM:610600
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:9005658 ! Hypoaldosteronism
created_by: slaulederkind
creation_date: 2024-01-29T10:41:43Z

[Term]
id: DOID:9008416
name: Cerebral Cortical Thinning
def: "Decrease in CEREBRAL CORTICAL THICKNESS. (MESH)" []
synonym: "Cortical Thinning" EXACT []
xref: MESH:D000082643
is_a: DOID:9003814 ! Neurologic Manifestations
is_a: DOID:9005214 ! Anatomical Pathological Conditions
created_by: mtutaj
creation_date: 2020-12-21T21:06:10Z

[Term]
id: DOID:9008417
name: Pruritus, Hereditary Localized
alt_id: MIM:177100
xref: MESH:C566754
is_a: DOID:9006202 ! Pruritus

[Term]
id: DOID:9008418
name: Adnexal and Skin Appendage Neoplasms
alt_id: RDO:0005802
def: "Neoplasms composed of sebaceous or sweat gland tissue or tissue of other skin appendages. The concept does not refer to neoplasms located in the sebaceous or sweat glands or in the other skin appendages." [MESH:D018294]
xref: MESH:D018294
is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms

[Term]
id: DOID:9008419
name: Volvulus Of Midgut
synonym: "Intestinal Malrotation, Familial" EXACT []
xref: MESH:C562456
xref: RDO:0012176
is_a: DOID:8445 ! intestinal volvulus
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:9008420
name: Familial Erythroleukemia
alt_id: MIM:133180
synonym: "acute myelogenous leukemia, M6" EXACT []
synonym: "familial Di Guglielmo disease" EXACT []
xref: MESH:C565039
is_a: DOID:9119 ! acute myeloid leukemia

[Term]
id: DOID:9008421
name: Epistaxis
def: "Bleeding from the nose." [MESH:D004844]
synonym: "Nasal Bleeding" EXACT []
synonym: "Nasal Bleedings" EXACT []
synonym: "Nose Bleed" EXACT []
synonym: "Nosebleed" EXACT []
synonym: "Nose Bleeds" EXACT []
synonym: "SPONTANEOUS, RECURRENT EPISTAXIS" NARROW []
xref: EFO:0003895
xref: MESH:D004844
is_a: DOID:2825 ! nose disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9008422
name: Nanophthalmos 4
synonym: "NANOPHTHALMIA 4" EXACT []
synonym: "NNO4" EXACT []
xref: MIM:615972
is_a: DOID:0080634 ! nanophthalmos
is_a: DOID:9834 ! hyperopia

[Term]
id: DOID:9008423
name: Milner Khallouf Gibson Syndrome
xref: MESH:C537473
is_a: DOID:10907 ! microcephaly
is_a: DOID:13636 ! Fanconi anemia
is_a: DOID:225 ! syndrome
is_a: DOID:9005616 ! Micrognathism
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9008424
name: Fowlpox
def: "A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts." [MESH:D005586]
synonym: "Bird Pox" EXACT []
synonym: "Birdpox" EXACT []
synonym: "Epithelioma Contagiosum" EXACT []
synonym: "Fowl Diphtheria" EXACT []
synonym: "Fowl Diphtherias" EXACT []
synonym: "Fowl Pox" EXACT []
synonym: "Variola Avium" EXACT []
xref: MESH:D005586
is_a: DOID:8729 ! milker's nodule
is_a: DOID:9006114 ! Bird Diseases

[Term]
id: DOID:9008425
name: Acute Fatty Liver of Pregnancy
alt_id: RDO:0003881
synonym: "Acute fatty liver, gestational" EXACT []
xref: MESH:C537957
is_a: DOID:9004702 ! Pregnancy Complications
is_a: DOID:9452 ! steatotic liver disease

[Term]
id: DOID:9008426
name: Focal Cortical Dysplasia of Taylor
alt_id: MIM:607341
synonym: "CDT" EXACT []
synonym: "Cortical dysplasia of Taylor" EXACT []
synonym: "FCDT" EXACT []
synonym: "FCORD2" EXACT []
synonym: "Focal cortical dysplasia, type 2" EXACT []
synonym: "Focal Cortical Dysplasia, Type II" EXACT []
synonym: "focal cortical dysplasia, type II, somatic" NARROW []
synonym: "MTOR-RELATED CONDITION" BROAD []
synonym: "NEURODEVELOPMENTAL DISORDER, MTOR RELATED" BROAD []
xref: MESH:C537067
xref: NCI:C201593
is_a: DOID:1826 ! epilepsy
is_a: DOID:9005611 ! Malformations of Cortical Development, Group I

[Term]
id: DOID:9008427
name: Gaucher Disease, Norrbottnian Type
alt_id: RDO:0014162
xref: MESH:C565556
is_a: DOID:0110959 ! Gaucher's disease type III

[Term]
id: DOID:9008428
name: Mid-Tone Neural Deafness
alt_id: MIM:124700
xref: MESH:C565122
is_a: DOID:10003 ! sensorineural hearing loss

[Term]
id: DOID:9008431
name: Internal Carotid Artery, Spontaneous Dissection of
alt_id: MIM:147820
xref: MESH:C564125
is_a: DOID:9007234 ! Carotid Artery Dissection, Internal

[Term]
id: DOID:9008433
name: Myopia 19, Autosomal Dominant
synonym: "MYP19" EXACT []
xref: MIM:613969
xref: MONDO:0013508
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9008435
name: Swine Diseases
def: "Diseases of domestic swine and of the wild boar of the genus Sus." [MESH:D013553]
synonym: "Swine Disease" EXACT []
xref: MESH:D013553
is_a: DOID:9004985 ! Animal Diseases

[Term]
id: DOID:9008436
name: Oral Fistula
def: "An abnormal passage within the mouth communicating between two or more anatomical structures." [MESH:D016155]
synonym: "Oral Fistulas" EXACT []
xref: MESH:D016155
is_a: DOID:403 ! mouth disease
is_a: DOID:9007343 ! Fistula

[Term]
id: DOID:9008437
name: Cutaneous Syphilis
def: "Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" [MESH:D013591]
synonym: "Skin Syphilis" EXACT []
synonym: "Syphilid" EXACT []
synonym: "Syphilids" EXACT []
xref: EFO:1000887
xref: MESH:D013591
is_a: DOID:4166 ! syphilis
is_a: DOID:9003209 ! Bacterial Skin Diseases

[Term]
id: DOID:9008438
name: Glanzmann Thrombasthenia 2
def: "An autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Caused by homozygous or compound heterozygous mutation in the ITGB3 gene, which encodes platelet glycoprotein IIIa, on chromosome 17q21.32." [MIM:619267]
synonym: "BDPLT23" EXACT []
synonym: "GT2" EXACT []
synonym: "Platelet-Type Bleeding Disorder 23" EXACT []
xref: MIM:619267
is_a: DOID:2219 ! Glanzmann's thrombasthenia
created_by: mtutaj
creation_date: 2021-04-14T14:37:42Z

[Term]
id: DOID:9008440
name: Chromosome 15, Trisomy Mosaicism
synonym: "Trisomy 15 mosaicism" EXACT []
synonym: "Uniparental disomy of 15" EXACT []
xref: MESH:C538037
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9006108 ! Uniparental Disomy

[Term]
id: DOID:9008441
name: Preeclampsia/Eclampsia 5
synonym: "PEE5" EXACT []
xref: MIM:614595
is_a: DOID:10591 ! pre-eclampsia

[Term]
id: DOID:9008442
name: Myopia 24, Autosomal Dominant
synonym: "myopia-24" EXACT []
synonym: "MYP24" EXACT []
xref: MIM:615946
xref: RDO:9001498
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9008443
name: Colorectal Neoplasms
def: "Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." [MESH:D015179]
synonym: "colorectal neoplasm" EXACT []
synonym: "colorectal tumor" EXACT []
synonym: "colorectal tumors" EXACT []
xref: EFO:0000360
xref: EFO:0004142
xref: MESH:D015179
is_a: DOID:1285 ! rectal disease
is_a: DOID:5353 ! colonic disease
is_a: DOID:9002245 ! Intestinal Neoplasms

[Term]
id: DOID:9008444
name: Skeletal Muscle Injuries
def: "Dysfunction of skeletal muscle causally related to a traumatic, chemical, or other type of injury." []
synonym: "injury of skeletal muscle" EXACT []
synonym: "skeletal muscle injury" EXACT []
synonym: "traumatic injury of skeletal muscle" EXACT []
xref: RDO:9000330
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9008445
name: Intraoperative Awareness
def: "Occurence of a patient becoming conscious during a procedure performed under GENERAL ANESTHESIA and subsequently having recall of these events. (From Anesthesiology 2006, 104(4): 847-64.)" [MESH:D058926]
synonym: "Anesthesia Awareness" EXACT []
synonym: "Awareness During Anesthesia" EXACT []
xref: MESH:D058926
xref: RDO:0007860
is_a: DOID:9007171 ! Intraoperative Complications

[Term]
id: DOID:9008446
name: Fibrous Tissue Neoplasms
def: "Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue." [MESH:D018218]
synonym: "fibrous tissue neoplasm" EXACT []
xref: EFO:1000255
xref: MESH:D018218
is_a: DOID:9003944 ! Connective Tissue Neoplasms

[Term]
id: DOID:9008447
name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY
synonym: "PEBAS" EXACT []
synonym: "PROGRESSIVE CHILDHOOD ENCEPHALOPATHY" EXACT []
xref: MIM:617669
xref: RDO:9005157
is_a: DOID:936 ! brain disease
created_by: rgd
creation_date: 2017-12-04T00:00:00Z

[Term]
id: DOID:9008448
name: YUKSEL-VOGEL-BAUER SYNDROME
def: "This disease is a multisystemic disorder characterized by variable congenital defects involving the brain, kidney, heart, and/or skeletal system." [MIM:620703]
synonym: "YUVOB" EXACT []
xref: MIM:620703
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulederkind
creation_date: 2024-03-26T12:04:49Z

[Term]
id: DOID:9008449
name: Tetany
def: "A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. Tetany usually results from HYPOCALCEMIA or reduced serum levels of MAGNESIUM that may be associated with HYPERVENTILATION; HYPOPARATHYROIDISM; RICKETS; UREMIA; or other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1490)" [MESH:D013746]
synonym: "Neonatal Tetanies" EXACT []
synonym: "Neonatal Tetany" EXACT []
synonym: "Spasmophilia" EXACT []
synonym: "Spasmophilias" EXACT []
synonym: "Tetanies" EXACT []
synonym: "Tetanilla" EXACT []
synonym: "Tetanillas" EXACT []
xref: MESH:D013746
is_a: DOID:9000165 ! Neuromuscular Manifestations
is_a: DOID:9009050 ! Hypocalcemia

[Term]
id: DOID:9008450
name: Pelvic Pain
def: "Pain in the pelvic region of genital and non-genital origin and of organic or psychogenic etiology. Frequent causes of pain are distension or contraction of hollow viscera, rapid stretching of the capsule of a solid organ, chemical irritation, tissue ischemia, and neuritis secondary to inflammatory, neoplastic, or fibrotic processes in adjacent organs. (Kase, Weingold & Gershenson: Principles and Practice of Clinical Gynecology, 2d ed, pp479-508)" [MESH:D017699]
synonym: "Pelvic Pains" EXACT []
xref: MESH:D017699
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9008451
name: Thrombocytopenia 10
def: "An autosomal recessive disorder characterized by decreased numbers of platelets apparent from birth or early childhood. Caused by compound heterozygous mutation in the PTPRJ gene on chromosome 11p11." [MIM:620484]
synonym: "THC10" EXACT []
synonym: "Thrombocytopenia, autosomal recessive, 10" EXACT []
xref: MIM:620484
xref: MONDO:0957578
is_a: DOID:1588 ! thrombocytopenia
created_by: mtutaj
creation_date: 2023-09-01T09:58:34Z

[Term]
id: DOID:9008452
name: Candidemia
def: "A form of invasive candidiasis where species of CANDIDA are present in the blood." [MESH:D058387]
synonym: "Candidemias" EXACT []
xref: EFO:1001282
xref: MESH:D058387
xref: RDO:0007824
is_a: DOID:9000522 ! Invasive Candidiasis
is_a: DOID:9001228 ! Fungemia

[Term]
id: DOID:9008453
name: Dysphoric Cerebral Angiopathy
alt_id: MIM:213500
xref: MESH:C565864
is_a: DOID:0112313 ! brain small vessel disease

[Term]
id: DOID:9008454
name: Trichoepithelioma, Multiple Familial, 2
alt_id: MIM:612099
synonym: "MFT2" EXACT []
xref: MESH:C567418
xref: RDO:0015492
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:9008455
name: High-Frequency Hearing Loss
def: "Hearing loss in frequencies above 1000 hertz." [MESH:D006316]
synonym: "high frequency deafness" EXACT []
xref: MESH:D006316
xref: NCI:C34663
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9008456
name: Delayed Emergence from Anesthesia
def: "Abnormally slow pace of regaining CONSCIOUSNESS after general anesthesia (ANESTHESIA, GENERAL) usually given during surgical procedures. This condition is characterized by persistent somnolence." [MESH:D055191]
synonym: "Delayed Awakening from Anesthesia" EXACT []
synonym: "Delayed Recovery from Anesthesia" EXACT []
synonym: "Delayed Regaining of Consciousness" EXACT []
synonym: "Delayed Return of Consciousness" EXACT []
synonym: "Post-Anesthesia Delayed Awakening" EXACT []
synonym: "Post-Anesthesia Delayed Awakenings" EXACT []
synonym: "Post-Anesthesia Residual Paralyses" EXACT []
synonym: "Post-Anesthesia Residual Paralysis" EXACT []
synonym: "Postoperative Residual Curarisation" EXACT []
synonym: "Postoperative Residual Curarisations" EXACT []
synonym: "Postoperative Residual Curarization" EXACT []
synonym: "Postoperative Residual Curarizations" EXACT []
synonym: "Postoperative Residual Weakness" EXACT []
synonym: "Postoperative Residual Weaknesses" EXACT []
synonym: "Post-Procedural Delayed Awakening" EXACT []
synonym: "Post-Procedural Delayed Awakenings" EXACT []
synonym: "Residual Block" EXACT []
synonym: "Residual Blocks" EXACT []
synonym: "Residual Neuromuscular Block" EXACT []
synonym: "Residual Neuromuscular Blockade" EXACT []
synonym: "Residual Neuromuscular Blockades" EXACT []
synonym: "Residual Neuromuscular Blocks" EXACT []
xref: MESH:D055191
xref: RDO:0007704
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9008457
name: Thrombocytopenia 7
synonym: "THC7" EXACT []
synonym: "thrombocytopenia, autosomal dominant, 7" EXACT []
xref: MIM:619130
is_a: DOID:1588 ! thrombocytopenia
created_by: mtutaj
creation_date: 2021-01-04T16:38:21Z

[Term]
id: DOID:9008458
name: Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
alt_id: MIM:182875
xref: MESH:C566677
is_a: DOID:540 ! strabismus
is_a: DOID:9001487 ! Facies
is_a: DOID:9005466 ! Language Development Disorders

[Term]
id: DOID:9008460
name: Poult Enteritis Mortality Syndrome
def: "An acute, transmissible, infectious disease associated with high MORTALITY and MORBIDITY in young turkeys (poults). It is characterized by DIARRHEA; ANOREXIA; growth depression, and immune dysfunction. The cause is unknown but astroviruses (AVASTROVIRUS) and coronaviruses (CORONAVIRUS, TURKEY) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections." [MESH:D031261]
synonym: "Spiking Mortality Syndrome" EXACT []
xref: MESH:D031261
is_a: DOID:225 ! syndrome
is_a: DOID:9004902 ! Poultry Diseases

[Term]
id: DOID:9008461
name: Pancreas Agenesis, Dorsal
alt_id: MIM:167755
synonym: "Agenesis of the dorsal pancreas" EXACT []
synonym: "Pancreas, dorsal, agenesis of" EXACT []
xref: MESH:C538109
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9008462
name: Lipodermatosclerosis
synonym: "Acute lipodermatosclerosis" EXACT []
xref: MESH:C537026
is_a: DOID:2723 ! dermatitis
is_a: DOID:8472 ! localized scleroderma

[Term]
id: DOID:9008463
name: Immunoproliferative Disorders
def: "Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins." []
synonym: "Immunoproliferative Disorder" EXACT []
xref: MESH:D007160
is_a: DOID:2914 ! immune system disease

[Term]
id: DOID:9008464
name: Cryopyrin-Associated Periodic Syndromes
alt_id: DOID:0090061
def: "A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations." []
synonym: "ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED" EXACT []
synonym: "cryopyrin-associated periodic syndrome" EXACT []
synonym: "cryopyrinopathies" EXACT []
synonym: "Cryopyrinopathy" EXACT []
synonym: "Familial Cold Induced Autoinflammatory Syndrome" EXACT []
synonym: "familial cold urticaria" EXACT []
synonym: "familial cold urticarias" EXACT []
synonym: "FCAS" EXACT []
synonym: "FCU" EXACT []
synonym: "PLAID" EXACT []
xref: MESH:D056587
is_a: DOID:225 ! syndrome
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases

[Term]
id: DOID:9008465
name: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE
def: "A disease characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly." [MIM:618870]
synonym: "mild skeletal dysplasia with joint laxity and advanced bone age" EXACT []
synonym: "SDJLABA" EXACT []
xref: MIM:618870
is_a: DOID:9003033 ! Familial Joint Laxity
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9007661 ! Dwarfism
created_by: slaulede
creation_date: 2020-08-20T12:30:04Z

[Term]
id: DOID:9008466
name: Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum
alt_id: MIM:225040
xref: MESH:C565605
is_a: DOID:0050328 ! congenital hypothyroidism
is_a: DOID:1059 ! intellectual disability
is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia
is_a: DOID:9001999 ! Agenesis of Corpus Callosum

[Term]
id: DOID:9008467
name: Retinohepatoendocrinologic Syndrome
alt_id: MIM:268040
synonym: "RHE syndrome" EXACT []
xref: MESH:C564839
is_a: DOID:225 ! syndrome
is_a: DOID:28 ! endocrine system disease
is_a: DOID:409 ! liver disease
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9008468
name: Hanhart Syndrome
synonym: "Oromandibular limb hypogenesis complex" EXACT []
xref: MESH:C535629
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008470
name: Familial Atrial Fibrillation 2
alt_id: MIM:608988
alt_id: RDO:0013036
synonym: "ATFB2" EXACT []
xref: MESH:C563903
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9008471
name: Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness
alt_id: MIM:250420
synonym: "METAPHYSEAL DYSOSTOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND CONDUCTIVE DEAFNESS" EXACT []
xref: MESH:C565396
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1934 ! dysostosis
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9008473
name: Lacrimal Puncta Agenesis
alt_id: RDO:0014982
synonym: "absence of lacrimal puncta" EXACT []
xref: MESH:C566703
is_a: DOID:13929 ! lacrimal duct obstruction

[Term]
id: DOID:9008474
name: Beta-Aminoisobutyric Acid, Urinary Excretion of
alt_id: MIM:210100
synonym: "BAIB Urinary Excretion" EXACT []
synonym: "Hyper-Beta-Aminoisobutyric Aciduria" EXACT []
xref: MESH:C565904
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9008475
name: Hemifacial Myohyperplasia
alt_id: MIM:606773
synonym: "Hypertrophy and asymmetry of the facial muscles" EXACT []
xref: MESH:C535862
is_a: DOID:9008797 ! Facial Asymmetry

[Term]
id: DOID:9008476
name: Allergic Seminal Vulvovaginitis
alt_id: MIM:193450
xref: MESH:C565993
xref: MONDO:0008669
is_a: DOID:1205 ! allergic disease
is_a: DOID:2273 ! vulvovaginitis

[Term]
id: DOID:9008477
name: Faciocardiomelic Syndrome
alt_id: MIM:612731
xref: MESH:C567176
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008478
name: Late Onset Disorders
def: "Pathological conditions (Disorder, SYNDROME, or DISEASE) whose SIGNS AND SYMPTOMS manifest late in the life of an individual." [MESH:D000067562]
synonym: "Late Onset Disease" EXACT []
synonym: "Late Onset Diseases" EXACT []
synonym: "Late Onset Disorder" EXACT []
synonym: "Later Onset Disorder" EXACT []
synonym: "Later Onset Disorders" EXACT []
xref: MESH:D000067562
is_a: DOID:9000817 ! Disease Attributes

[Term]
id: DOID:9008479
name: Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial
alt_id: MIM:500005
xref: MESH:C564024
is_a: DOID:10763 ! hypertension
is_a: DOID:447 ! renal tubular transport disease
is_a: DOID:9000808 ! Hypercholesterolemia

[Term]
id: DOID:9008480
name: Vesicoureteral Reflux 6
synonym: "VUR6" EXACT []
xref: MIM:614319
is_a: DOID:9620 ! vesicoureteral reflux

[Term]
id: DOID:9008481
name: Spina Bifida, X-Linked
xref: MESH:C564459
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0080016 ! spina bifida

[Term]
id: DOID:9008482
name: Congenital Pain Insensitivity
def: "A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)" [MESH:D000699]
synonym: "channelopathy-associated insensitivity to pain" EXACT []
synonym: "congenital analgesia" EXACT []
synonym: "Congenital Indifference to Pain" EXACT []
synonym: "Congenital Insensitivity To Pain" EXACT []
synonym: "congenital pain indifference" EXACT []
synonym: "PAIN INSENSITIVITY" EXACT []
xref: MESH:D000699
is_a: DOID:225 ! syndrome
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9008483
name: Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta
alt_id: MIM:604922
xref: MESH:C565734
is_a: DOID:0080006 ! bone development disease
is_a: DOID:4154 ! dentinogenesis imperfecta

[Term]
id: DOID:9008484
name: Simian Acquired Immunodeficiency Syndrome
def: "Acquired defect of cellular immunity that occurs naturally in macaques infected with SRV serotypes, experimentally in monkeys inoculated with SRV or MASON-PFIZER MONKEY VIRUS; (MPMV), or in monkeys infected with SIMIAN IMMUNODEFICIENCY VIRUS." [MESH:D016097]
synonym: "SAIDS" EXACT []
synonym: "Simian Acquired Immune Deficiency Syndrome" EXACT []
synonym: "Simian Acquired Immuno Deficiency Syndrome" EXACT []
synonym: "Simian AIDS" EXACT []
synonym: "Simian AIDSs" EXACT []
xref: MESH:D016097
xref: RDO:0006939
is_a: DOID:225 ! syndrome
is_a: DOID:9001284 ! Monkey Diseases
is_a: DOID:9004448 ! Slow Virus Diseases
is_a: DOID:9005091 ! Lentivirus Infections

[Term]
id: DOID:9008485
name: Cross Infection
def: "Any infection which a patient contracts in a health-care institution." [MESH:D003428]
synonym: "Cross Infections" EXACT []
synonym: "Health Care Associated Infection" EXACT []
synonym: "Healthcare Associated Infection" EXACT []
synonym: "Health Care Associated Infections" EXACT []
synonym: "Healthcare Associated Infections" EXACT []
synonym: "Hospital Infection" EXACT []
synonym: "Hospital Infections" EXACT []
synonym: "Nosocomial Infection" EXACT []
synonym: "Nosocomial Infections" EXACT []
xref: MESH:D003428
xref: RDO:0005295
is_a: DOID:9004550 ! Iatrogenic Disease

[Term]
id: DOID:9008486
name: Neurovisceral Storage Disease with Curvilinear Bodies
alt_id: MIM:257000
xref: MESH:C564944
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:9008487
name: Glycinuria with or without Oxalate Urolithiasis
alt_id: RDO:0012472
synonym: "GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS" EXACT []
synonym: "hyperglycinuria" EXACT []
synonym: "IMINOGLYCINURIA TYPE II" EXACT []
xref: MESH:C563009
xref: MIM:138500
xref: RDO:0007995
is_a: DOID:0080653 ! urolithiasis
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9008488
name: Autosomal Recessive Intellectual Developmental Disorder 81
def: "A disease characterized by a variable neurobehavioral and neuromuscular phenotype. Caused by homozygous or compound heterozygous mutation in the ASCC3 gene on chromosome 6q16." [MIM:620700]
synonym: "ASCC3-ASSOCIATED DISORDER" EXACT []
synonym: "MRT81" EXACT []
xref: MIM:620700
is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder
created_by: tutajm
creation_date: 2024-02-05T09:37:46Z

[Term]
id: DOID:9008490
name: Ductal, Lobular, and Medullary Neoplasms
def: "Neoplasms, usually carcinoma, located within the center of an organ or within small lobes, and in the case of the breast, intraductally. The emphasis of the name is on the location of the neoplastic tissue rather than on its histological type. Most cancers of this type are located in the breast." []
xref: MESH:D018299
is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms

[Term]
id: DOID:9008491
name: Ulnar Hypoplasia with Mental Retardation
alt_id: MIM:276821
synonym: "Bilateral ulnar hypoplasia and mental retardation" EXACT []
synonym: "Mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation" EXACT []
synonym: "Mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation" EXACT []
synonym: "Ulna Hypoplasia with Mental Retardation" EXACT []
xref: MESH:C536934
xref: MESH:C564757
is_a: DOID:0080006 ! bone development disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11836 ! clubfoot
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9008493
name: Viral Cell Transformations
def: "An inheritable change in cells manifested by changes in cell division and growth and alterations in cell surface properties. It is induced by infection with a transforming virus." [MESH:D002472]
synonym: "Viral Cell Transformation" EXACT []
xref: MESH:D002472
is_a: DOID:9007608 ! Neoplastic Cell Transformation

[Term]
id: DOID:9008494
name: Pneumonia of Swine, Mycoplasmal
def: "A chronic, clinically mild, infectious pneumonia of PIGS caused by MYCOPLASMA HYOPNEUMONIAE. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. PASTEURELLA MULTOCIDA is often found as a secondary infection." [MESH:D045729]
synonym: "Enzootic Pneumonia of Pigs" EXACT []
synonym: "Enzootic Pneumonia of Swine" EXACT []
synonym: "Mycoplasma Pneumonia of Pigs" EXACT []
synonym: "Mycoplasma Pneumonia of Swine" EXACT []
synonym: "Swine Enzootic Pneumonia" EXACT []
synonym: "Swine Mycoplasmal Pneumonia" EXACT []
synonym: "Swine Mycoplasma Pneumonia" EXACT []
xref: MESH:D045729
xref: RDO:0007518
is_a: DOID:874 ! bacterial pneumonia
is_a: DOID:9008435 ! Swine Diseases

[Term]
id: DOID:9008495
name: Glaucoma 1, Open Angle, D
alt_id: MIM:602429
synonym: "GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET" EXACT []
synonym: "GLC1D" EXACT []
xref: MESH:C566551
is_a: DOID:1070 ! primary open angle glaucoma

[Term]
id: DOID:9008496
name: Visceral Heterotaxy 4, Autosomal
def: "This disease is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another." [MIM:613751]
synonym: "ACVR2B-RELATED CONDITION" EXACT []
synonym: "HTX4" EXACT []
xref: MIM:613751
is_a: DOID:0050545 ! visceral heterotaxy

[Term]
id: DOID:9008497
name: Esophageal Ulcer
def: "A rare form of gastrointestinal ulcer." []
xref: RDO:9000519
is_a: DOID:13976 ! peptic esophagitis
is_a: DOID:8534 ! gastroesophageal reflux disease

[Term]
id: DOID:9008498
name: Tracheoesophageal Fistula
def: "Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA." [MESH:D014138]
synonym: "Esophagotracheal Fistula" EXACT []
synonym: "Esophagotracheal Fistulas" EXACT []
synonym: "Tracheoesophageal Fistulas" EXACT []
xref: MESH:D014138
is_a: DOID:3225 ! tracheal disease
is_a: DOID:9001952 ! Respiratory Tract Fistula
is_a: DOID:9004368 ! Esophageal Fistula

[Term]
id: DOID:9008499
name: Microstomia
def: "A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)" [MESH:D008865]
synonym: "Microstomias" EXACT []
xref: MESH:D008865
is_a: DOID:9001018 ! Mouth Abnormalities

[Term]
id: DOID:9008500
name: Classical Lissencephalies and Subcortical Band Heterotopias
def: "Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)" [MESH:D054221]
synonym: "agyria pachygyria band spectrum" EXACT []
synonym: "classical lissencephalies" EXACT []
synonym: "Classical Lissencephaly" EXACT []
synonym: "Classical Lissencephaly Syndrome" EXACT []
synonym: "Classic Lissencephaly" EXACT []
synonym: "Heterotopias, Subcortical Laminar" EXACT []
synonym: "Isolated Lissencephaly Sequence" EXACT []
synonym: "LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED" NARROW []
synonym: "Lissencephaly Subcortical Band Heterotopia" EXACT []
synonym: "lissencephaly-subcortical band heterotopias" EXACT []
synonym: "SBH" NARROW []
synonym: "SCLH" NARROW []
synonym: "X-linked lissencephalies" EXACT []
synonym: "X-linked lissencephaly" EXACT []
synonym: "XLIS" EXACT []
xref: MESH:D054221
is_a: DOID:0050453 ! lissencephaly
is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders

[Term]
id: DOID:9008501
name: Submandibular Gland Neoplasms
def: "New abnormal growth of tissue in the SUBMANDIBULAR GLAND." [MESH:D013365]
synonym: "Submandibular Gland Neoplasm" EXACT []
xref: EFO:1001853
xref: MESH:D013365
xref: NCI:C134961
xref: RDO:0006642
is_a: DOID:12897 ! submandibular gland disease
is_a: DOID:9003216 ! Salivary Gland Neoplasms

[Term]
id: DOID:9008502
name: Anorchia
alt_id: MIM:273250
synonym: "absence of testes" EXACT []
synonym: "Anorchia, Familial" EXACT []
synonym: "Congenital absence of testes" EXACT []
synonym: "DHX37-RELATED CONDITION" BROAD []
synonym: "Empty scrotum" EXACT []
synonym: "Testicular Regression, Embryonic" EXACT []
synonym: "Testicular regression syndrome" EXACT []
synonym: "Vanishing testes" EXACT []
synonym: "XY gonadal agenesis syndrome" EXACT []
synonym: "XY gonadal dysgenesis syndrome" EXACT []
xref: MESH:C537770
is_a: DOID:14448 ! 46,XY sex reversal

[Term]
id: DOID:9008503
name: Persistent Vegetative State
def: "Vegetative state refers to the neurocognitive status of individuals with severe brain damage, in whom physiologic functions (sleep-wake cycles, autonomic control, and breathing) persist, but awareness (including all cognitive function and emotion) is abolished." [MESH:D018458]
synonym: "Minimally Conscious State" EXACT []
synonym: "Minimally Conscious States" EXACT []
synonym: "Permanent Vegetative State" EXACT []
synonym: "Permanent Vegetative States" EXACT []
synonym: "Persistent Unawareness State" EXACT []
synonym: "Persistent Unawareness States" EXACT []
synonym: "Persistent Vegetative States" EXACT []
synonym: "Post Comatose Unawareness State" EXACT []
synonym: "Postcomatose Unawareness State" EXACT []
synonym: "Post-Comatose Unawareness States" EXACT []
synonym: "Postcomatose Unawareness States" EXACT []
synonym: "Post Traumatic Unawareness State" EXACT []
synonym: "Posttraumatic Unawareness State" EXACT []
synonym: "Post-Traumatic Unawareness States" EXACT []
synonym: "Posttraumatic Unawareness States" EXACT []
synonym: "Post Traumatic Vegetative State" EXACT []
synonym: "Post-Traumatic Vegetative States" EXACT []
synonym: "Prolonged Post Traumatic Unawareness" EXACT []
synonym: "Prolonged Post-Traumatic Unawarenesses" EXACT []
synonym: "PVS (Persistent Vegetative State)" EXACT []
synonym: "Transient Vegetative State" EXACT []
synonym: "Transient Vegetative States" EXACT []
synonym: "Vegetative State" EXACT []
synonym: "Vegetative States" EXACT []
xref: MESH:D018458
is_a: DOID:9007650 ! Unconsciousness
is_a: DOID:9008381 ! Chronic Brain Damage

[Term]
id: DOID:9008504
name: Nidovirales Infections
def: "Infections with viruses of the order NIDOVIRALES. The concept includes ARTERIVIRUS INFECTIONS and CORONAVIRIDAE INFECTIONS." [MESH:D030341]
synonym: "Nidovirales infectious disease" EXACT []
xref: EFO:0007396
xref: MESH:D030341
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:9008505
name: Juvenile Recurrent Parotitis
alt_id: MIM:603588
xref: MESH:C566359
is_a: DOID:10301 ! parotitis

[Term]
id: DOID:9008506
name: Autosomal Dominant Intellectual Developmental Disorder 65
def: "Characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities. Caused by heterozygous mutation in the KDM4B gene on chromosome 19p13." [MIM:619320]
synonym: "autosomal dominant mental retardation 65" EXACT []
synonym: "MRD65" EXACT []
xref: MIM:619320
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2021-05-19T13:22:12Z

[Term]
id: DOID:9008507
name: Flank Pain
def: "Pain emanating from below the RIBS and above the ILIUM." [MESH:D021501]
synonym: "Flank Pains" EXACT []
synonym: "Left Flank Pain" EXACT []
synonym: "Left Flank Pains" EXACT []
synonym: "Right Flank Pain" EXACT []
synonym: "Right Flank Pains" EXACT []
xref: MESH:D021501
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9008508
name: Weill-Marchesani Syndrome 4
alt_id: MIM:613195
alt_id: OMIA:000588
synonym: "ADAMTS17-RELATED CONDITION" EXACT []
synonym: "ADAMTS17-RELATED DISORDER" EXACT []
synonym: "Glaucoma, primary open angle, ADAMTS17-related" NARROW []
synonym: "Lens luxation" NARROW []
synonym: "Weill-Marchesani-like syndrome" EXACT []
synonym: "WMS4" EXACT []
synonym: "WMSL" EXACT []
xref: MESH:C567710
is_a: DOID:0050475 ! Weill-Marchesani syndrome

[Term]
id: DOID:9008509
name: Cone-Rod Dystrophy and Hearing Loss 2
def: "Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss. CRDHL2 is caused by homozygous or compound heterozygous mutation in the CEP250 gene on chromosome 20q11.(OMIM)" []
synonym: "CEP250-RELATED CONDITION" EXACT []
synonym: "CRDHL2" EXACT []
xref: MIM:618358
xref: MONDO:0020780
is_a: DOID:9000732 ! Cone-Rod Dystrophy and Hearing Loss
created_by: gthayman
creation_date: 2019-03-15T16:52:11Z

[Term]
id: DOID:9008510
name: Chronic Hepatitis
alt_id: RDO:0005781
def: "INFLAMMATION of the LIVER with ongoing hepatocellular injury for 6 months or more, characterized by NECROSIS of HEPATOCYTES and inflammatory cell (LEUKOCYTES) infiltration. Chronic hepatitis can be caused by viruses, medications, autoimmune diseases, and other unknown factors." [MESH:D006521]
synonym: "chronic active hepatitis" EXACT []
synonym: "chronic persistent hepatitides" EXACT []
synonym: "chronic persistent hepatitis" EXACT []
synonym: "cryptogenic chronic hepatitis" EXACT []
xref: EFO:0008496
xref: MESH:D006521
is_a: DOID:2237 ! hepatitis

[Term]
id: DOID:9008511
name: Extravasation of Diagnostic and Therapeutic Materials
def: "The escape of diagnostic or therapeutic material from the vessel into which it is introduced into the surrounding tissue or body cavity." [MESH:D005119]
synonym: "Contrast Media Extravasation" EXACT []
synonym: "Extravasation of Contrast Media" EXACT []
synonym: "Extravasation of Diagnostic, Therapeutic Materials" EXACT []
xref: MESH:D005119
xref: RDO:0005553
is_a: DOID:9001600 ! Wounds and Injuries
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9008512
name: Craniomicromelic Syndrome
alt_id: MIM:602558
xref: MESH:C566522
is_a: DOID:225 ! syndrome
is_a: DOID:9002231 ! Fetal Growth Retardation
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008513
name: Hoarseness
def: "An unnaturally deep or rough quality of voice." [MESH:D006685]
synonym: "Hoarsenesses" EXACT []
synonym: "Hoarseness of Voice" EXACT []
synonym: "Neurogenic Hoarseness" EXACT []
synonym: "Neurogenic Hoarsenesses" EXACT []
synonym: "Voice Hoarseness" EXACT []
xref: MESH:D006685
is_a: DOID:9000575 ! Respiratory Signs and Symptoms
is_a: DOID:9004659 ! Respiration Disorders
is_a: DOID:9006046 ! Voice Disorders

[Term]
id: DOID:9008514
name: Psychomotor Disorders
def: "Abnormalities of motor function that are associated with organic and non-organic cognitive disorders." [MESH:D011596]
synonym: "Developmental Psychomotor Disorder" EXACT []
synonym: "Developmental Psychomotor Disorders" EXACT []
synonym: "Psychomotor Impairment" EXACT []
synonym: "Psychomotor Impairments" EXACT []
xref: MESH:D011596
is_a: DOID:9002320 ! Neurobehavioral Manifestations

[Term]
id: DOID:9008515
name: Schweitzer Kemink Graham Syndrome
synonym: "Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia" EXACT []
synonym: "Thickened earlobes with conductive deafness from incus-stapes abnormalities" EXACT []
xref: MESH:C536511
is_a: DOID:225 ! syndrome
is_a: DOID:9003483 ! Conductive Hearing Loss
is_a: DOID:9005616 ! Micrognathism

[Term]
id: DOID:9008516
name: Mixed Polyneuropathy of Early Onset
alt_id: RDO:0013695
xref: MESH:C564879
is_a: DOID:10595 ! Charcot-Marie-Tooth disease

[Term]
id: DOID:9008517
name: Postoperative Hemorrhage
def: "Hemorrhage following any surgical procedure. It may be immediate or delayed and is not restricted to the surgical wound." [MESH:D019106]
synonym: "Postoperative Blood Loss" EXACT []
synonym: "Postoperative Hemorrhages" EXACT []
xref: MESH:D019106
is_a: DOID:9000790 ! Postoperative Complications
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9008518
name: Catamenial Pneumothorax
alt_id: RDO:0004240
xref: MESH:C538279
is_a: DOID:1673 ! pneumothorax

[Term]
id: DOID:9008519
name: Polycystic Kidney, Cataract, and Congenital Blindness
alt_id: MIM:263100
xref: MESH:C564882
is_a: DOID:0080322 ! polycystic kidney disease
is_a: DOID:1432 ! blindness
is_a: DOID:83 ! cataract

[Term]
id: DOID:9008520
name: Chronic Pain
def: "Aching sensation that persists for more than a few months. It may or may not be associated with trauma or disease, and may persist after the initial injury has healed. Its localization, character, and timing are more vague than with acute pain." [MESH:D059350]
synonym: "Chronic Pains" EXACT []
synonym: "multisite chronic pain" NARROW []
synonym: "Widespread Chronic Pain" NARROW []
synonym: "Widespread Chronic Pains" NARROW []
xref: EFO:0010099
xref: EFO:0010100
xref: MESH:D059350
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9008521
name: Basal Cell Carcinoma, Nonsyndromic
xref: MESH:C567789
xref: RDO:0012042
is_a: DOID:2513 ! basal cell carcinoma

[Term]
id: DOID:9008522
name: Chromosome 9, Trisomy
synonym: "Duplication 9" EXACT []
synonym: "Trisomy 9" EXACT []
xref: MESH:C538028
xref: NCI:C84282
xref: RDO:0003962
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9008523
name: Subretinal Fibrosis
def: "Fibrosis of the subretinal space resulting from hemorrhage of abnormal blood vessels, which are created by macular degeneration-associated choroidal neovascularization." []
is_a: DOID:10873 ! Kuhnt-Junius degeneration
is_a: DOID:9000784 ! Fibrosis
created_by: rgd
creation_date: 2015-10-30T00:00:00Z

[Term]
id: DOID:9008524
name: Odontoma Dysphagia Syndrome
alt_id: MIM:164330
synonym: "Boder syndrome" EXACT []
synonym: "Odontomatosis (multiple odontomas) with dysphagia" EXACT []
xref: MESH:C537740
is_a: DOID:225 ! syndrome
is_a: DOID:9000123 ! Deglutition Disorders
is_a: DOID:9001598 ! Odontoma

[Term]
id: DOID:9008525
name: Respiratory Alkalosis
def: "A state due to excess loss of carbon dioxide from the body. (Dorland, 27th ed)" [MESH:D000472]
synonym: "respiratory alkaloses" EXACT []
xref: MESH:D000472
is_a: DOID:9006680 ! Hyperventilation
is_a: DOID:9007331 ! Alkalosis

[Term]
id: DOID:9008526
name: Chromosome 7, Trisomy 7q
synonym: "Duplication 7q" EXACT []
synonym: "Trisomy 7q" EXACT []
xref: MESH:C537821
xref: RDO:0003725
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9008527
name: Chlamydophila Infections
alt_id: RDO:0006245
def: "Infections with bacteria of the genus CHLAMYDOPHILA." [MESH:D023521]
synonym: "Chlamydophila Infection" EXACT []
synonym: "Chlamydophila infectious disease" EXACT []
xref: EFO:1000863
xref: MESH:D023521
is_a: DOID:9008090 ! Chlamydiaceae Infections

[Term]
id: DOID:9008528
name: Arene Oxide Detoxification Defect
xref: MESH:C565043
xref: RDO:0013793
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9008529
name: Diffuse Cerebral Sclerosis, Scholz Type
alt_id: MIM:302700
xref: MESH:C564449
xref: MONDO:0060456
is_a: DOID:10581 ! metachromatic leukodystrophy

[Term]
id: DOID:9008530
name: Chlorpropamide-Alcohol Flushing
alt_id: MIM:118430
synonym: "Endemic Tyrolean Infantile Cirrhosis" EXACT []
xref: MESH:C566132
is_a: DOID:9007763 ! Flushing

[Term]
id: DOID:9008531
name: Daentl Towsend Siegel Syndrome
alt_id: RDO:0001065
synonym: "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome" EXACT []
synonym: "Hydrocephalus blue sclera nephropathy" EXACT []
xref: MESH:C535768
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:11343 ! scleral disease
is_a: DOID:225 ! syndrome
is_a: DOID:2527 ! nephrosis

[Term]
id: DOID:9008532
name: Dens in Dente and Palatal Invaginations
alt_id: MIM:125300
xref: MESH:C538211
is_a: DOID:9000440 ! Dens in Dente

[Term]
id: DOID:9008533
name: Plasminogen Activator Inhibitor-1 Deficiency
alt_id: MIM:613329
synonym: "Hyperfibrinolysis Due To Pai1 Deficiency" EXACT []
xref: MESH:C567640
xref: NCI:C133884
xref: RDO:0015656
is_a: DOID:2213 ! hemorrhagic disease

[Term]
id: DOID:9008534
name: Progressive Supranuclear Palsy Atypical
alt_id: MIM:260540
synonym: "Atypical PSP" EXACT []
synonym: "Parkinson-Dementia Syndrome" EXACT []
synonym: "STEELE-RICHARDSON-OLSZEWSKI SYNDROME, ATYPICAL" NARROW []
synonym: "SUPRANUCLEAR PALSY, PROGRESSIVE, 1, ATYPICAL" NARROW []
xref: MESH:C537240
xref: RDO:0003032
is_a: DOID:14330 ! Parkinson's disease
is_a: DOID:678 ! progressive supranuclear palsy

[Term]
id: DOID:9008535
name: Secretory Diarrhea, Myopathy, and Deafness
alt_id: MIM:607540
xref: MESH:C564382
is_a: DOID:0050129 ! secretory diarrhea
is_a: DOID:10907 ! microcephaly
is_a: DOID:423 ! myopathy
is_a: DOID:9001276 ! Failure to Thrive
is_a: DOID:9008681 ! Deafness

[Term]
id: DOID:9008537
name: Polypoidal Choroidal Vasculopathy
def: "A slow-growing, complex form of choroidal neovascularization which eventually causes subretinal hemorrhage and pigment epithelial detachment." []
synonym: "idiopathic polypoidal choroidal vasculopathy" EXACT []
synonym: "IPCV" EXACT []
synonym: "PCV" EXACT []
synonym: "polypoidal choroidal neovascularization" EXACT []
synonym: "polypoidal CNV" EXACT []
xref: MESH:D000092342
is_a: DOID:9001044 ! Choroidal Neovascularization

[Term]
id: DOID:9008538
name: Neisseriaceae Infections
def: "Infections with bacteria of the family NEISSERIACEAE." [MESH:D016870]
synonym: "Neisseriaceae Infection" EXACT []
xref: EFO:1001377
xref: MESH:D016870
xref: RDO:0005693
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9008539
name: Perinatal Death
def: "The death of a FETUS of GESTATIONAL AGE 28 weeks or more, or the death of a live-born INFANT less than 28 days of age." [MESH:D066087]
synonym: "Neonatal Death" EXACT []
synonym: "Neonatal Deaths" EXACT []
synonym: "Perinatal Deaths" EXACT []
xref: MESH:D066087
is_a: DOID:9000543 ! Death
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9008540
name: 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs
synonym: "46 XX gonadal dysgenesis" EXACT []
synonym: "SERKAL" EXACT []
synonym: "SERKAL SYNDROME" EXACT []
synonym: "Sex Reversal, Female, with Dysgenesis of Kidneys, Adrenals, and Lungs" EXACT []
xref: MESH:C567517
xref: MIM:611812
is_a: DOID:0111760 ! 46,XX sex reversal
is_a: DOID:557 ! kidney disease
is_a: DOID:850 ! lung disease
is_a: DOID:9007870 ! Respiratory System Abnormalities
is_a: DOID:9553 ! adrenal gland disease

[Term]
id: DOID:9008541
name: Metatarsalgia
def: "Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS)." [MESH:D037061]
xref: EFO:1001370
xref: MESH:D037061
is_a: DOID:381 ! arthropathy
is_a: DOID:9000641 ! Pain
is_a: DOID:9007310 ! Foot Diseases

[Term]
id: DOID:9008542
name: Rapidly Progressive Glomerulonephritis with Pulmonary Hemorrhage
synonym: "Anti-glomerular basement membrane antibody disease" EXACT []
synonym: "Glomerulonephritis - pulmonary hemorrhage" EXACT []
synonym: "Pulmonary renal syndrome" EXACT []
xref: MESH:C538458
is_a: DOID:4776 ! rapidly progressive glomerulonephritis
is_a: DOID:9003202 ! Pulmonary Hemorrhage

[Term]
id: DOID:9008543
name: Agnathia-Microstomia-Synotia
synonym: "Agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment" EXACT []
synonym: "Plurimalformative syndrome" EXACT []
xref: MESH:C538059
xref: MONDO:0021829
is_a: DOID:9000066 ! Jaw Abnormalities
is_a: DOID:9008499 ! Microstomia

[Term]
id: DOID:9008544
name: 9q22.3 Microdeletion
synonym: "9q22.3 Deletion" EXACT []
synonym: "9q22 Deletion Syndrome" EXACT []
synonym: "Microdeletion 9q22.3 Syndrome" EXACT []
xref: MESH:C579873
xref: RDO:0015858
is_a: DOID:0080014 ! chromosomal disease

[Term]
id: DOID:9008545
name: ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS
xref: RDO:9001284
is_a: DOID:1561 ! cognitive disorder
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004538 ! Hearing Loss
is_a: DOID:9004866 ! Ataxia
created_by: rgd
creation_date: 2016-11-08T00:00:00Z

[Term]
id: DOID:9008546
name: Rodrigues Blindness
alt_id: MIM:268320
synonym: "Microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities" EXACT []
xref: MESH:C535865
is_a: DOID:1432 ! blindness
is_a: DOID:421 ! hair disease
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9008547
name: Charcot-Marie-Tooth Disease Type 6B
synonym: "CMT6B" EXACT []
synonym: "hereditary motor and sensory neuropathy type VIB" EXACT []
synonym: "hereditary motor and sensory neuropathy type VIB, with optic atrophy" EXACT []
synonym: "HMSN6B" EXACT []
synonym: "HMSN VIB" EXACT []
xref: EFO:0009075
xref: MIM:616505
is_a: DOID:0080068 ! Charcot-Marie-Tooth disease type 6
created_by: mtutaj
creation_date: 2019-09-09T09:43:44Z

[Term]
id: DOID:9008548
name: Photoparoxysmal Response 1
alt_id: RDO:0007976
synonym: "PHOTOCONVULSIVE REACTION" EXACT []
synonym: "PHOTOSENSITIVITY" EXACT []
synonym: "PPR" EXACT []
synonym: "PPR1" EXACT []
xref: MIM:132100
is_a: DOID:0060281 ! photosensitive epilepsy

[Term]
id: DOID:9008549
name: Lipoprotein Glomerulopathy
synonym: "APOE2 Isoforms" RELATED []
synonym: "APOE KYOTO" RELATED []
synonym: "APOE SENDAI" RELATED []
synonym: "LPG" EXACT []
xref: MESH:C567089
xref: MIM:611771
xref: MONDO:0012725
xref: ORDO:329481
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9008550
name: Vitamin A Deficiency
def: "A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)" [MESH:D014802]
synonym: "Vitamin A Deficiencies" EXACT []
xref: EFO:1001237
xref: MESH:D014802
xref: RDO:0001619
is_a: DOID:9004644 ! Avitaminosis

[Term]
id: DOID:9008551
name: Flaviviridae Infections
def: "Infections with viruses of the family FLAVIVIRIDAE." [MESH:D018178]
synonym: "Flaviviridae Infection" EXACT []
synonym: "Flaviviridae infectious disease" EXACT []
xref: EFO:0007274
xref: MESH:D018178
is_a: DOID:9002150 ! RNA Virus Infections

[Term]
id: DOID:9008552
name: Subcortical Band Heterotopia, X-Linked
xref: MESH:C564722
is_a: DOID:9008500 ! Classical Lissencephalies and Subcortical Band Heterotopias

[Term]
id: DOID:9008553
name: Urachal Adenocarcinoma
synonym: "Adenocarcinoma of the urachus" EXACT []
xref: MESH:C536474
is_a: DOID:11054 ! urinary bladder cancer
is_a: DOID:299 ! adenocarcinoma

[Term]
id: DOID:9008554
name: Tessadori-van Haaften Neurodevelopmental Syndrome
synonym: "TEVANED" EXACT []
xref: MIM:PS619758
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2022-07-18T10:36:50Z

[Term]
id: DOID:9008556
name: Radio-Ulnar Synostosis Type 2
xref: MESH:C536269
is_a: DOID:11193 ! syndactyly
is_a: DOID:9000067 ! Congenital Foot Deformities
is_a: DOID:9004795 ! Congenital Hand Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008557
name: Single Umbilical Artery
def: "Congenital abnormality where one, instead of the usual two, UMBILICAL ARTERY connects the fetus to the placenta." [MESH:D058529]
synonym: "Single Umbilical Arteries" EXACT []
synonym: "Two Vessel Cord" EXACT []
synonym: "Two Vessel Cords" EXACT []
xref: MESH:D058529
xref: RDO:0007834
is_a: DOID:9003191 ! Vascular Malformations

[Term]
id: DOID:9008558
name: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY
def: "An autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia." [MIM:615511]
synonym: "MMDD" EXACT []
synonym: "MUSCLE AMP DEAMINASE DEFICIENCY" EXACT []
synonym: "MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO" EXACT []
synonym: "MYOPATHY DUE TO AMPD1 DEFICIENCY" EXACT []
xref: MIM:615511
xref: NCI:C157504
is_a: DOID:423 ! myopathy
is_a: DOID:9007712 ! Adenosine Monophosphate Deaminase Deficiency
created_by: slaulede
creation_date: 2019-07-15T13:30:56Z

[Term]
id: DOID:9008559
name: Bacterial Lung Diseases
def: "Pulmonary diseases caused by bacterial infections." []
xref: RDO:9002453
is_a: DOID:104 ! bacterial infectious disease
is_a: DOID:850 ! lung disease
is_a: DOID:9008680 ! Respiratory Tract Infections
created_by: rgd
creation_date: 2017-10-03T00:00:00Z

[Term]
id: DOID:9008560
name: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
alt_id: MIM:185020
alt_id: MIM:609153
synonym: "CHC" EXACT []
synonym: "Cryohydrocytosis" EXACT []
synonym: "CRYOHYDROCYTOSIS, MILD" EXACT []
synonym: "PSEUDOHYPERKALEMIA CARDIFF" EXACT []
synonym: "PSEUDOHYPERKALEMIA CHISWICK" EXACT []
synonym: "PSEUDOHYPERKALEMIA EAST LONDON" EXACT []
synonym: "PSEUDOHYPERKALEMIA FALKIRK" EXACT []
synonym: "Pseudohyperkalemia Lille" EXACT []
synonym: "PSHK2" EXACT []
synonym: "Stomatocytosis, cold-sensitive" EXACT []
xref: MESH:C535827
xref: MESH:C563785
is_a: DOID:9001961 ! Hyperkalemia

[Term]
id: DOID:9008561
name: Ventricular Septal Rupture
def: "Laceration or tearing of the VENTRICULAR SEPTUM, usually caused by MYOCARDIAL INFARCTION." [MESH:D018658]
synonym: "Ventricular Septal Perforation" EXACT []
synonym: "Ventricular Septal Ruptures" EXACT []
xref: MESH:D018658
xref: RDO:0007226
is_a: DOID:9003023 ! Heart Rupture, Post-Infarction

[Term]
id: DOID:9008562
name: Parotid Salivary Glands, Polycystic Disease of
alt_id: MIM:600343
synonym: "PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF" EXACT []
synonym: "PDDP" EXACT []
xref: MESH:C563951
is_a: DOID:10854 ! salivary gland disease

[Term]
id: DOID:9008563
name: Charcot-Marie-Tooth Disease, Type 2A
synonym: "Charcot-Marie-Tooth disease, axonal, Type 2A" EXACT []
synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2A" EXACT []
synonym: "Hereditary motor and sensory neuropathy 2 A" EXACT []
synonym: "HMSN IIA" EXACT []
xref: MESH:C537988
is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2

[Term]
id: DOID:9008564
name: Retinal Dystrophy and Microvillus Inclusion Disease
def: "Characterized by early-onset severe retinal dystrophy in association with intractable congenital diarrhea requiring total parenteral nutrition (TPN). Caused by homozygous mutation in the STX3 gene on chromosome 11q12. (OMIM)" [MIM:619446]
synonym: "RDMVID" EXACT []
xref: MIM:619446
is_a: DOID:0060775 ! microvillus inclusion disease
is_a: DOID:8501 ! fundus dystrophy
created_by: mtutaj
creation_date: 2021-07-27T12:47:48Z

[Term]
id: DOID:9008565
name: Congenital Heart Defects, Multiple Types
xref: EFO:0600032
is_a: DOID:1682 ! congenital heart disease
created_by: mtutaj
creation_date: 2020-02-18T11:31:49Z

[Term]
id: DOID:9008566
name: CHA Heavy Chain Disease Protein, Human
synonym: "gamma heavy chain disease protein CHA, human" EXACT []
xref: MESH:C483999
is_a: DOID:0060125 ! heavy chain disease

[Term]
id: DOID:9008567
name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
def: "This is a neurodevelopmental disorder characterized by variably impaired skill acquisition apparent from infancy or early childhood. Affected individuals have predominant language delay with mild fine and gross motor deficits. Most patients have mild to moderately impaired intellectual development and behavioral abnormalities, including aggression, hyperactivity, and autism spectrum disorder." [MIM:619964]
synonym: "ARFGEF1-RELATED CONDITION" EXACT []
synonym: "DEDISB" EXACT []
xref: MIM:619964
is_a: DOID:150 ! disease of mental health
is_a: DOID:1826 ! epilepsy
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:92 ! speech disorder
created_by: slaulede
creation_date: 2022-12-06T11:17:27Z

[Term]
id: DOID:9008568
name: Camptodactyly Syndrome Guadalajara Type 2
alt_id: MIM:211920
synonym: "camptodactyly syndrome, Guadalajara type II" EXACT []
xref: GARD:1068
xref: MESH:C537971
is_a: DOID:0080016 ! spina bifida
is_a: DOID:9002231 ! Fetal Growth Retardation
is_a: DOID:9003133 ! Hypertelorism
is_a: DOID:9005560 ! Congenital Hip Dislocation
is_a: DOID:9008731 ! Craniofacial Abnormalities
is_a: DOID:9008935 ! Camptodactyly Syndrome Guadalajara Type

[Term]
id: DOID:9008569
name: Bronchial Spasm
def: "Spasmodic contraction of the smooth muscle of the bronchi." [MESH:D001986]
synonym: "bronchial spasms" EXACT []
synonym: "bronchospasm" EXACT []
synonym: "bronchospasms" EXACT []
xref: MESH:D001986
is_a: DOID:1176 ! bronchial disease

[Term]
id: DOID:9008570
name: Gardner-Diamond Syndrome
alt_id: RDO:0000880
synonym: "autoerythrocyte sensitization" EXACT []
synonym: "psychogenic purpura" EXACT []
xref: MESH:C535645
is_a: DOID:1766 ! factitious disorder
is_a: DOID:225 ! syndrome
is_a: DOID:2468 ! psychotic disorder
is_a: DOID:417 ! autoimmune disease
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:9008571
name: Cone Dystrophy 4
alt_id: MIM:613093
synonym: "ACHM5" NARROW []
synonym: "ACHROMATOPSIA 5" NARROW []
synonym: "COD4" EXACT []
synonym: "PDE6C-RELATED CONDITION" EXACT []
xref: MESH:C567758
is_a: DOID:0050795 ! cone dystrophy
is_a: DOID:10584 ! retinitis pigmentosa

[Term]
id: DOID:9008572
name: Novak Syndrome
alt_id: MIM:215800
synonym: "laryngotracheoesophageal cleft pulmonary hypoplasia" EXACT []
synonym: "posterior cleft larynx" EXACT []
xref: MESH:C537851
is_a: DOID:225 ! syndrome
is_a: DOID:3225 ! tracheal disease
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008573
name: Vector Borne Diseases
def: "Infectious diseases transmitted by DISEASE VECTORS." [MESH:D000079426]
synonym: "Vector-Borne Diseases" EXACT []
synonym: "Vectorborne Diseases" EXACT []
xref: MESH:D000079426
is_a: DOID:0050117 ! disease by infectious agent
created_by: slaulede
creation_date: 2020-02-07T14:49:46Z

[Term]
id: DOID:9008574
name: Tamari Goodman Syndrome
synonym: "Congenital heart disease radio ulnar synostos mental retardation" EXACT []
synonym: "Upper limb cardiovascular syndromes" EXACT []
xref: MESH:C536896
xref: RDO:0002614
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome
is_a: DOID:2477 ! motor peripheral neuropathy
is_a: DOID:9004402 ! Congenital Upper Extremity Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008575
name: Olmsted Syndrome 2
def: "Mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities, caused by heterozygous mutation in the PERP gene on chromosome 6q23. (OMIM)" []
synonym: "mutilating palmoplantar keratoderma with periorificial keratotic plaques 2" EXACT []
synonym: "OLMS2" EXACT []
synonym: "PPKM2" EXACT []
xref: MIM:619208
is_a: DOID:0112011 ! mutilating palmoplantar keratoderma with periorificial keratotic plaques
created_by: mtutaj
creation_date: 2021-03-01T14:43:03Z

[Term]
id: DOID:9008576
name: Wilms Tumor 2
alt_id: MIM:194071
synonym: "familial Wilms tumor 2" EXACT []
synonym: "WT2" EXACT []
xref: EFO:1000056
xref: MESH:C536853
is_a: DOID:2154 ! nephroblastoma

[Term]
id: DOID:9008577
name: Factor V Excess with Spontaneous Thrombosis
alt_id: MIM:134400
synonym: "PROACCELERIN EXCESS" EXACT []
synonym: "THROMBOPHILIA WITH ELEVATED FACTOR V" EXACT []
xref: MESH:C565026
is_a: DOID:2452 ! thrombophilia

[Term]
id: DOID:9008578
name: Microcephaly, Short Stature, and Impaired Glucose Metabolism
synonym: "MSSGM" EXACT []
is_a: DOID:10907 ! microcephaly
is_a: DOID:4194 ! glucose metabolism disease
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007661 ! Dwarfism
created_by: rgd
creation_date: 2017-05-09T00:00:00Z

[Term]
id: DOID:9008580
name: Circoviridae Infections
alt_id: RDO:0007091
def: "Virus diseases caused by the CIRCOVIRIDAE." [MESH:D018173]
synonym: "Circoviridae Infection" EXACT []
synonym: "Circoviridae infectious disease" EXACT []
synonym: "Circovirus Infection" EXACT []
synonym: "Circovirus Infections" EXACT []
xref: EFO:1001292
xref: MESH:D018173
is_a: DOID:9000251 ! DNA Virus Infections

[Term]
id: DOID:9008581
name: CAKUT3
synonym: "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3" EXACT []
synonym: "NRIP1-RELATED CONDITION" EXACT []
xref: MIM:618270
is_a: DOID:0080205 ! CAKUT
created_by: mtutaj
creation_date: 2019-02-12T10:52:29Z

[Term]
id: DOID:9008582
name: Developmental Disease
def: "Mental or physical disorders that usually manifest during the equivalent of human childhood or teenage years." []
subset: RGD_JBrowse_slim
synonym: "developmental disorder" EXACT []
synonym: "development diseases" EXACT []
is_a: DOID:4 ! disease
created_by: rgd
creation_date: 2016-09-02T00:00:00Z

[Term]
id: DOID:9008583
name: Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis
alt_id: MIM:246500
xref: MESH:C565440
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:1059 ! intellectual disability
is_a: DOID:13714 ! anodontia
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007168 ! Genetic Skin Diseases

[Term]
id: DOID:9008584
name: Yersinia Pseudotuberculosis Infections
def: "Infections with bacteria of the species YERSINIA PSEUDOTUBERCULOSIS." [MESH:D015012]
synonym: "Pasteurella Pseudotuberculoses" EXACT []
synonym: "Pasteurella Pseudotuberculosis" EXACT []
synonym: "Yersinia pseudotuberculosis infectious disease" EXACT []
xref: EFO:1001246
xref: MESH:D015012
is_a: DOID:9003800 ! Yersinia Infections

[Term]
id: DOID:9008585
name: Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
xref: MESH:C563829
xref: RDO:0012988
is_a: DOID:3635 ! congenital myasthenic syndrome
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008586
name: Tooth Avulsion
def: "Partial or complete displacement of a tooth from its alveolar support. It is commonly the result of trauma. (From Boucher's Clinical Dental Terminology, 4th ed, p312)" [MESH:D014084]
synonym: "Avulsed Tooth" EXACT []
synonym: "Tooth Avulsions" EXACT []
synonym: "Tooth Dislocation" EXACT []
synonym: "Tooth Dislocations" EXACT []
synonym: "Tooth Luxation" EXACT []
synonym: "Tooth Luxations" EXACT []
xref: MESH:D014084
is_a: DOID:9003584 ! Tooth Injuries

[Term]
id: DOID:9008587
name: Mycoplasmatales Infections
def: "Infections with bacteria of the order MYCOPLASMATALES." [MESH:D009180]
synonym: "Mycoplasmatales Infection" EXACT []
xref: EFO:1001374
xref: MESH:D009180
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9008588
name: Zellweger Syndrome 2
xref: RDO:9000707
is_a: DOID:905 ! Zellweger syndrome

[Term]
id: DOID:9008589
name: Hallux Valgus
def: "Lateral displacement of the great toe (HALLUX), producing deformity of the first METATARSOPHALANGEAL JOINT with callous, bursa, or bunion formation over the bony prominence." [MESH:D006215]
synonym: "Hallux Abductovalgus" EXACT []
xref: MESH:D006215
xref: RDO:0005710
is_a: DOID:9003938 ! Foot Deformities

[Term]
id: DOID:9008590
name: Cor Triatriatum
def: "A malformation of the heart in which the embryonic common PULMONARY VEIN was not incorporated into the LEFT ATRIUM leaving behind a perforated fibromuscular membrane bisecting the left atrium, a three-atrium heart. The opening between the two left atrium sections determines the degree of obstruction to pulmonary venous return, pulmonary venous and pulmonary arterial hypertension." [MESH:D003310]
synonym: "Cor Triatriatum Sinistrum" EXACT []
synonym: "Subdivided Left Atrium" EXACT []
synonym: "Subdivided Left Atriums" EXACT []
synonym: "Triatrial Heart" EXACT []
synonym: "Triatrial Hearts" EXACT []
xref: MESH:D003310
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9008591
name: Setting-Sun Phenomenon, Familial Benign
alt_id: MIM:600598
xref: MESH:C563470
is_a: DOID:1279 ! ocular motility disease

[Term]
id: DOID:9008592
name: Familial Angiolipomatosis
alt_id: MIM:206550
synonym: "angiolipoma microthromboticum" EXACT []
xref: MESH:C565951
is_a: DOID:3616 ! angiolipoma

[Term]
id: DOID:9008593
name: Sinus Pericranii
def: "Rare vascular anomaly involving a communication between the intracranial and extracranial venous circulation via diploe, the central spongy layer of cranial bone. It is often characterized by dilated venous structures on the scalp due to abnormal drainage from the intracranial venous sinuses. Sinus pericranii can be congenital or traumatic in origin." [MESH:D020779]
xref: MESH:D020779
is_a: DOID:9003443 ! Central Nervous System Vascular Malformations

[Term]
id: DOID:9008594
name: Familial Subependymomas
xref: MESH:C538553
xref: RDO:0004493
is_a: DOID:4843 ! subependymal glioma

[Term]
id: DOID:9008595
name: Brain Abscess
def: "A circumscribed collection of purulent exudate in the brain, due to bacterial and other infections. The majority are caused by spread of infected material from a focus of suppuration elsewhere in the body, notably the PARANASAL SINUSES, middle ear (see EAR, MIDDLE); HEART (see also ENDOCARDITIS, BACTERIAL), and LUNG. Penetrating CRANIOCEREBRAL TRAUMA and NEUROSURGICAL PROCEDURES may also be associated with this condition. Clinical manifestations include HEADACHE; SEIZURES; focal neurologic deficits; and alterations of consciousness. (Adams et al., Principles of Neurology, 6th ed, pp712-6)" [MESH:D001922]
synonym: "Brain Abscesses" EXACT []
synonym: "Cerebral Abscess" EXACT []
synonym: "Cerebral Abscesses" EXACT []
synonym: "Child Brain Abscess" EXACT []
synonym: "Multiple Brain Abscess" EXACT []
synonym: "Multiple Brain Abscesses" EXACT []
synonym: "Pyogenic Brain Abscess" EXACT []
synonym: "Pyogenic Brain Abscesses" EXACT []
synonym: "Sterile Brain Abscess" EXACT []
synonym: "Sterile Brain Abscesses" EXACT []
xref: MESH:D001922
is_a: DOID:9000025 ! Central Nervous System Infections
is_a: DOID:9000325 ! Abscess
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9008596
name: Baker-Gordon Syndrome
def: "A neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioral abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures. (OMIM)" [MIM:618218]
synonym: "BAGOS" EXACT []
synonym: "NEDIMAE" EXACT []
synonym: "neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram" EXACT []
xref: MIM:618218
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2019-01-10T18:10:58Z

[Term]
id: DOID:9008598
name: Traumatic Intracranial Hemorrhage
def: "Bleeding within the SKULL induced by penetrating and nonpenetrating traumatic injuries, including hemorrhages into the tissues of CEREBRUM; BRAIN STEM; and CEREBELLUM; as well as into the epidural, subdural and subarachnoid spaces of the MENINGES." [MESH:D020198]
synonym: "Traumatic Intracranial Hematoma" EXACT []
synonym: "Traumatic Intracranial Hematomas" EXACT []
synonym: "Traumatic Intracranial Hemorrhages" EXACT []
xref: MESH:D020198
is_a: DOID:9003104 ! Intracranial Hemorrhages
is_a: DOID:9007621 ! Craniocerebral Trauma

[Term]
id: DOID:9008599
name: Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy
xref: MESH:C565117
xref: RDO:0013845
is_a: DOID:0080000 ! muscular disease
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:9005850 ! Hereditary Optic Atrophies

[Term]
id: DOID:9008600
name: Chromosome 6, Deletion 6q13 q15
synonym: "Deletion 6q13 q15" EXACT []
synonym: "Monosomy 6q13 q15" EXACT []
xref: MESH:C537764
xref: RDO:0003662
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9008601
name: Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures 
def: "Autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. (OMIM)" []
synonym: "NEDHYMS" EXACT []
xref: MIM:618862
is_a: DOID:10907 ! microcephaly
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: mtutaj
creation_date: 2020-06-16T13:02:41Z

[Term]
id: DOID:9008602
name: Alcohol Amnestic Disorder
def: "A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" [MESH:D000425]
synonym: "Alcohol Amnestic Disorders" EXACT []
synonym: "Alcohol Amnestic Syndrome" EXACT []
synonym: "Alcohol Amnestic Syndromes" EXACT []
synonym: "Alcoholic Korsakoff Syndrome" EXACT []
synonym: "Alcoholic Korsakoff Syndromes" EXACT []
synonym: "Alcohol-Induced Amnestic Psychoses" EXACT []
synonym: "Alcohol Induced Amnestic Psychosis" EXACT []
synonym: "Alcohol Induced Amnestic Syndrome" EXACT []
synonym: "Alcohol-Induced Amnestic Syndromes" EXACT []
synonym: "Alcohol-Induced Dysmnesic Psychoses" EXACT []
synonym: "Alcohol Induced Dysmnesic Psychosis" EXACT []
synonym: "Alcohol Induced Dysmnesic Syndrome" EXACT []
synonym: "Alcohol-Induced Dysmnesic Syndromes" EXACT []
synonym: "Alcohol Induced Korsakoff Syndrome" EXACT []
synonym: "Alcohol-Induced Korsakoff Syndromes" EXACT []
synonym: "Alcohol Induced Persisting Amnestic Disorder" EXACT []
xref: EFO:1001759
xref: MESH:D000425
xref: RDO:0004589
is_a: DOID:10914 ! amnestic disorder
is_a: DOID:9004354 ! Alcohol-Related Disorders
is_a: DOID:9007727 ! Alcohol-Induced Disorders, Nervous System

[Term]
id: DOID:9008603
name: Rhabdoviridae Infections
def: "Virus diseases caused by RHABDOVIRIDAE. Important infections include RABIES; EPHEMERAL FEVER; and vesicular stomatitis." [MESH:D018353]
synonym: "Rhabdoviridae Infection" EXACT []
xref: EFO:0007469
xref: MESH:D018353
xref: RDO:0005503
is_a: DOID:9007829 ! Mononegavirales Infections

[Term]
id: DOID:9008604
name: Radiation Pneumonitis
def: "Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." [MESH:D017564]
synonym: "Radiation Fibrosis" EXACT []
synonym: "Radiation Pneumonia" EXACT []
synonym: "Radiation Pneumonias" EXACT []
synonym: "Radiation Pneumonitides" EXACT []
xref: EFO:1001411
xref: MESH:D017564
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:9000111 ! Radiation Injuries
is_a: DOID:9000310 ! Lung Injury

[Term]
id: DOID:9008605
name: Hyperparathyroidism 3
alt_id: MIM:610071
synonym: "familial isolated hyperparathyroidism" EXACT []
synonym: "HRPT3" EXACT []
xref: MESH:C566450
is_a: DOID:11202 ! primary hyperparathyroidism

[Term]
id: DOID:9008606
name: Corneal Opacity
def: "Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque." [MESH:D003318]
synonym: "Corneal Opacities" EXACT []
synonym: "Leukoma" EXACT []
synonym: "Leukomas" EXACT []
xref: MESH:D003318
is_a: DOID:10124 ! corneal disease

[Term]
id: DOID:9008607
name: Prostatic Malacoplakia associated with Prostatic Abscess
synonym: "Prostatic malacoplakia with prostatic and seminal vesicle abscess" EXACT []
xref: MESH:C537244
is_a: DOID:9004625 ! Malacoplakia

[Term]
id: DOID:9008609
name: Endotoxin-Induced Uveitis
def: "An anterior uveitis caused by lipopolysacharride. May be experimentally induced in animals by systemic injection of bacterial lipopolysacharride." []
synonym: "EIU" EXACT []
is_a: DOID:9001606 ! Acute Anterior Uveitis

[Term]
id: DOID:9008610
name: Keratitis Fugax Hereditaria
alt_id: MIM:148200
synonym: "Keratoendotheliitis Fugax Hereditaria" EXACT []
xref: MESH:C563650
xref: MONDO:0007849
is_a: DOID:4677 ! keratitis

[Term]
id: DOID:9008611
name: Infundibulopelvic Dysgenesis
alt_id: MIM:600989
xref: MESH:C535528
is_a: DOID:557 ! kidney disease
is_a: DOID:9001627 ! Pathologic Constriction

[Term]
id: DOID:9008612
name: Connective and Soft Tissue Neoplasms
def: "Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue." [MESH:D018204]
xref: MESH:D018204
is_a: DOID:9002052 ! Neoplasms by Histologic Type

[Term]
id: DOID:9008613
name: Cataract, Variable Zonular Pulverulent
xref: MESH:C565132
is_a: DOID:83 ! cataract

[Term]
id: DOID:9008614
name: Cardiovascular Pregnancy Complications
def: "The co-occurrence of pregnancy and a cardiovascular disease. The disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS." [MESH:D011249]
synonym: "cardiovascular complications pregnancies" EXACT []
synonym: "Cardiovascular Pregnancy Complication" EXACT []
xref: MESH:D011249
is_a: DOID:1287 ! cardiovascular system disease
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9008615
name: Familial Thoracic Aortic Aneurysm 1
alt_id: MIM:607086
synonym: "AAT1" EXACT []
synonym: "Annuloaortic Ectasia" EXACT []
synonym: "Erdheim cystic medial necrosis of aorta" NARROW []
synonym: "FAA1" EXACT []
synonym: "Familial Aortic Aneurysm" EXACT []
synonym: "Familial Aortic Dissection" EXACT []
synonym: "Familial Taad" EXACT []
synonym: "Familial Thoracic Aortic Aneurysm" EXACT []
synonym: "familial thoracic aortic aneurysm and dissection" EXACT []
synonym: "thoracic aortic aneurysm" EXACT []
xref: MESH:C562834
is_a: DOID:14004 ! thoracic aortic aneurysm

[Term]
id: DOID:9008616
name: Patent Ductus Venosus
alt_id: MIM:601466
synonym: "Portosystemic Venous Shunt, Congenital" EXACT []
xref: MESH:C562830
is_a: DOID:9003191 ! Vascular Malformations

[Term]
id: DOID:9008617
name: Lethargy
def: "A general state of sluggishness, listless, or uninterested, with being tired, and having difficulty concentrating and doing simple tasks. It may be related to DEPRESSION or DRUG ADDICTION." [MESH:D053609]
xref: MESH:D053609
is_a: DOID:9002320 ! Neurobehavioral Manifestations

[Term]
id: DOID:9008620
name: Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome
alt_id: MIM:214350
synonym: "CHANDS" EXACT []
synonym: "CHAND syndrome" EXACT []
xref: MESH:C538074
is_a: DOID:225 ! syndrome
is_a: DOID:421 ! hair disease
is_a: DOID:530 ! eyelid disease
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9008621
name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY
def: "This disease is an autosomal recessive disorder characterized by early-onset progressive myoclonus epilepsy with ataxia." [MIM:619971]
synonym: "NEDEBA" EXACT []
xref: MIM:619971
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9004462 ! Atrophy
created_by: slaulede
creation_date: 2022-12-13T12:46:45Z

[Term]
id: DOID:9008622
name: Adrenal Insufficiency
def: "Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS." [MESH:D000309]
synonym: "Adrenal Gland Hypofunction" EXACT []
synonym: "Adrenal Insufficiencies" EXACT []
synonym: "ADRENAL INSUFFICIENCY, NR5A1-RELATED" NARROW []
synonym: "Hypoadrenalism" EXACT []
xref: MESH:D000309
xref: RDO:0000918
is_a: DOID:9553 ! adrenal gland disease

[Term]
id: DOID:9008623
name: Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome
alt_id: MIM:162240
synonym: "duodenal carcinoid syndrome" EXACT []
synonym: "NPDC syndrome" EXACT []
xref: MESH:C563522
is_a: DOID:0050771 ! pheochromocytoma
is_a: DOID:8712 ! neurofibromatosis
is_a: DOID:9000256 ! Duodenal Neoplasms
is_a: DOID:9000362 ! Adrenal Gland Neoplasms
is_a: DOID:9007787 ! Carcinoid Tumor

[Term]
id: DOID:9008624
name: Aortico-Ventricular Tunnel
def: "Congenital anomaly characterized by an extra-cardiac channel connecting the AORTA either to the right or left HEART VENTRICLE. (MESH)" []
synonym: "Aortic-Left Ventricular Tunnel" EXACT []
synonym: "Aortico-Left Ventricular Tunnel" EXACT []
synonym: "Aortico-Right Ventricular Tunnel" EXACT []
synonym: "Aorticoventricular Tunnel" EXACT []
synonym: "Aortic-Right Ventricular Tunnel" EXACT []
synonym: "Aortic-Ventricular Tunnel" EXACT []
synonym: "Aorto-Left Ventricular Tunnel" EXACT []
synonym: "Aorto-Right Ventricular Tunnel" EXACT []
synonym: "Aorto-Ventricular Tunnel" EXACT []
synonym: "Aortoventricular Tunnel" EXACT []
xref: MESH:D000082903
is_a: DOID:1682 ! congenital heart disease
created_by: mtutaj
creation_date: 2020-12-21T20:13:58Z

[Term]
id: DOID:9008625
name: Somatosensory Disorders
def: "Disorders of sensory information received from superficial and deep regions of the body. The somatosensory system conveys neural impulses which pertain to proprioception, tactile sensation, thermal sensation, pressure sensation, and pain. PERIPHERAL NERVOUS SYSTEM DISEASES; SPINAL CORD DISEASES; and BRAIN DISEASES may be associated with impaired or abnormal somatic sensation." [MESH:D020886]
synonym: "Light Touch Sensation Impairment" EXACT []
synonym: "Pain Sensation Diminished" EXACT []
synonym: "Pain Sensation Diminisheds" EXACT []
synonym: "Pinprick Sensation Diminished" EXACT []
synonym: "Pinprick Sensation Diminisheds" EXACT []
synonym: "Position Sense Disorder" EXACT []
synonym: "Position Sense Disorders" EXACT []
synonym: "Proprioceptive Disorder" EXACT []
synonym: "Proprioceptive Disorders" EXACT []
synonym: "Somatic Sensation Disorder" EXACT []
synonym: "Somatic Sensation Disorders" EXACT []
synonym: "Somatosensory Disorder" EXACT []
synonym: "Thermal Sensation Disorder" EXACT []
synonym: "Thermal Sensation Disorders" EXACT []
xref: MESH:D020886
is_a: DOID:0050155 ! sensory system disease

[Term]
id: DOID:9008626
name: Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia
def: "A highly variable neurologic disorder characterized by early-onset gait abnormalities due to spastic paraplegia of the lower limbs, sometimes with cerebellar ataxia. Caused by heterozygous mutation in the SPTAN1 gene on chromosome 9q34." [MIM:620538]
synonym: "SPG91" EXACT []
xref: MIM:620538
is_a: DOID:2476 ! hereditary spastic paraplegia
created_by: tutajm
creation_date: 2023-10-24T12:59:33Z

[Term]
id: DOID:9008627
name: Severe Congenital Neutropenia 10
def: "Infantile onset of neutropenia, which may be associated with bacterial infections, including skin abscesses. Caused by compound heterozygous mutation in the SRP68 gene on chromosome 17q25." []
synonym: "Neutropenia, severe congenital, 10, autosomal recessive" EXACT []
synonym: "SCN10" EXACT []
xref: MIM:620534
is_a: DOID:0050590 ! severe congenital neutropenia
created_by: mtutaj
creation_date: 2023-10-09T10:19:25Z

[Term]
id: DOID:9008628
name: Familial Thoracic Aortic Aneurysm 12
def: "A familial thoracic aortic aneurysm caused by heterozygous mutation in the THSD4 gene on chromosome 15q23." [MIM:619825]
synonym: "AAT12" EXACT []
xref: MIM:619825
is_a: DOID:14004 ! thoracic aortic aneurysm
created_by: mtutaj
creation_date: 2022-04-11T09:58:23Z

[Term]
id: DOID:9008629
name: Vagus Nerve Injuries
def: "Traumatic injuries to the VAGUS NERVE. Because the vagus nerve innervates multiple organs, injuries in the nerve fibers may result in any gastrointestinal organ dysfunction downstream of the injury site." [MESH:D061223]
synonym: "Cranial Nerve X Injury" EXACT []
synonym: "Tenth Cranial Nerve Injuries" EXACT []
synonym: "Tenth Cranial Nerve Injury" EXACT []
synonym: "Tenth Nerve Trauma" EXACT []
synonym: "Tenth-Nerve Traumas" EXACT []
synonym: "Traumatic Tenth-Nerve Palsies" EXACT []
synonym: "Traumatic Tenth Nerve Palsy" EXACT []
synonym: "Traumatic Vagus Neuropathies" EXACT []
synonym: "Traumatic Vagus Neuropathy" EXACT []
synonym: "Vagus Nerve Avulsion" EXACT []
synonym: "Vagus Nerve Avulsions" EXACT []
synonym: "Vagus Nerve Contusion" EXACT []
synonym: "Vagus Nerve Contusions" EXACT []
synonym: "Vagus Nerve Injury" EXACT []
synonym: "Vagus Nerve Transection" EXACT []
synonym: "Vagus Nerve Transections" EXACT []
synonym: "Vagus Nerve Trauma" EXACT []
synonym: "Vagus Nerve Traumas" EXACT []
xref: MESH:D061223
xref: RDO:0010060
is_a: DOID:12491 ! Vagus nerve disease
is_a: DOID:9000598 ! Cranial Nerve Injuries

[Term]
id: DOID:9008631
name: progressive myoclonus epilepsy 5
def: "This disease is a neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and sometimes mild intellectual disability." [ORPHA:402082]
synonym: "EPM5" EXACT []
synonym: "PME type 5" EXACT []
synonym: "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5" EXACT []
synonym: "Progressive myoclonus epilepsy type 5" EXACT []
is_a: DOID:891 ! progressive myoclonus epilepsy
created_by: slaulede
creation_date: 2023-05-08T15:18:46Z

[Term]
id: DOID:9008632
name: gastrointestinal toxicity
def: "This is toxicity that causes injury to the gastrointestinal tract or damages its function. It can be caused by exposure to xenobiotics such as drugs, food additives, alcohol, chlorinated solvents, peroxidized fatty acids, fungal toxins, radioactive isotopes, environmental toxicants, and even some medicinal plants." [EFO:0011050]
xref: EFO:0011050
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions
created_by: slaulede
creation_date: 2023-01-23T16:49:21Z

[Term]
id: DOID:9008633
name: Congenital Torticollis
alt_id: MIM:189600
synonym: "Congenital muscular torticollis" EXACT []
synonym: "Familial spasmodic torticollis" EXACT []
synonym: "Familial torticollis" EXACT []
xref: MESH:C535425
is_a: DOID:0050840 ! cervical dystonia

[Term]
id: DOID:9008634
name: Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
alt_id: MIM:215250
xref: MESH:C565852
is_a: DOID:1184 ! nephrotic syndrome
is_a: DOID:225 ! syndrome
is_a: DOID:2914 ! immune system disease
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:9008635
name: Cholesterol Pneumonia
alt_id: MIM:215030
synonym: "Familiaere Cholesterin-Pneumonie" EXACT []
xref: MESH:C535937
is_a: DOID:13580 ! cholestasis
is_a: DOID:552 ! pneumonia

[Term]
id: DOID:9008636
name: Cornea Guttata with Anterior Polar Cataract
alt_id: MIM:121390
synonym: "Cornea Guttata with Anterior Polar Cataracts" EXACT []
synonym: "Familial congenital cornea guttata with anterior polar cataracts" EXACT []
xref: MESH:C535471
is_a: DOID:11555 ! Fuchs' endothelial dystrophy
is_a: DOID:83 ! cataract

[Term]
id: DOID:9008637
name: fulminant type 1 diabetes
def: "This is a subtype of idiopathic type 1 diabetes in which the process of &#946;-cell destruction and the progression of hyperglycemia and ketoacidosis are extremely rapid." [EFO:0009758, PMID:17179928]
xref: EFO:0009758
is_a: DOID:9744 ! type 1 diabetes mellitus
created_by: slaulede
creation_date: 2023-01-26T17:01:33Z

[Term]
id: DOID:9008638
name: Anticholinergic Syndrome
def: "Adverse drug effects associated with CHOLINERGIC ANTAGONISTS. Clinical features include TACHYCARDIA; HYPERTHERMIA; MYDRIASIS, dry skin and dry mucous membranes, decreased bowel sounds and urinary retention in peripheral anticholinergic syndrome; and HALLUCINATIONS; PSYCHOSES; SEIZURES; and COMA in central anticholinergic syndrome." [MESH:D064807]
synonym: "Anticholinergic Syndromes" EXACT []
synonym: "Central Anticholinergic Syndrome" EXACT []
synonym: "Central Anticholinergic Syndromes" EXACT []
synonym: "Peripheral Anticholinergic Syndrome" EXACT []
synonym: "Peripheral Anticholinergic Syndromes" EXACT []
xref: MESH:D064807
is_a: DOID:225 ! syndrome
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions

[Term]
id: DOID:9008639
name: Catatonia
def: "A neuropsychiatric disorder characterized by one or more of the following essential features: immobility, mutism, negativism (active or passive refusal to follow commands), mannerisms, stereotypies, posturing, grimacing, excitement, echolalia, echopraxia, muscular rigidity, and stupor; sometimes punctuated by sudden violent outbursts, panic, or hallucinations. This condition may be associated with psychiatric illnesses (e.g., SCHIZOPHRENIA; MOOD DISORDERS) or organic disorders (NEUROLEPTIC MALIGNANT SYNDROME; ENCEPHALITIS, etc.). (From DSM-IV, 4th ed, 1994; APA, Thesaurus of Psychological Index Terms, 1994)" [MESH:D002389]
synonym: "Catatonias" EXACT []
synonym: "Lethal Catatonia" EXACT []
synonym: "Lethal Catatonias" EXACT []
synonym: "Malignant Catatonia" EXACT []
synonym: "Malignant Catatonias" EXACT []
synonym: "Organic Catatonia" EXACT []
synonym: "Organic Catatonias" EXACT []
synonym: "Organic Catatonic Disorder" EXACT []
synonym: "Organic Catatonic Disorders" EXACT []
synonym: "Schizophreniform Catatonia" EXACT []
synonym: "Schizophreniform Catatonias" EXACT []
xref: MESH:D002389
is_a: DOID:9002320 ! Neurobehavioral Manifestations

[Term]
id: DOID:9008640
name: Capillary Malformation-Arteriovenous Malformation 1
synonym: "CMAVM1" EXACT []
xref: MIM:608354
is_a: DOID:9005469 ! Capillary Malformation-Arteriovenous Malformation
created_by: mtutaj
creation_date: 2019-03-21T00:00:00Z

[Term]
id: DOID:9008641
name: Pancreaticobiliary Maljunction
def: "A group of anatomical variations in which the COMMON BILE DUCT and MAIN PANCREATIC DUCT are joined outside the duodenal wall often with abnormally long common channel rather than at the SPHINCTER OF ODDI." [MESH:D000080222]
synonym: "Anomalous Pancreaticobiliary Ductal Union" EXACT []
synonym: "Anomalous Pancreaticobiliary Junction" EXACT []
synonym: "Anomalous Pancreaticobiliary Junctions" EXACT []
xref: MESH:D000080222
is_a: DOID:4137 ! common bile duct disease
is_a: DOID:9001683 ! Digestive System Abnormalities
created_by: slaulede
creation_date: 2020-02-07T10:27:02Z

[Term]
id: DOID:9008642
name: Progeria Short Stature Pigmented Nevi
alt_id: MIM:176690
synonym: "Mulvihill-Smith Syndrome" EXACT []
synonym: "Progeroid Short Stature with Pigmented Nevi" EXACT []
xref: MESH:C536422
is_a: DOID:3911 ! progeria
is_a: DOID:9005120 ! Pigmented Nevus
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9008643
name: Vesicular Exanthema of Swine
def: "A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia." [MESH:D014720]
synonym: "Swine Vesicular Exanthema" EXACT []
synonym: "Swine Vesicular Exanthemas" EXACT []
xref: MESH:D014720
is_a: DOID:9006923 ! Caliciviridae Infections
is_a: DOID:9008435 ! Swine Diseases

[Term]
id: DOID:9008644
name: Dysmenorrhea
def: "Painful menstruation." [MESH:D004412]
synonym: "Dysmenorrheas" EXACT []
synonym: "Menstrual Pain" EXACT []
synonym: "Menstrual Pains" EXACT []
synonym: "Painful Menstruation" EXACT []
synonym: "Painful Menstruations" EXACT []
xref: MESH:D004412
is_a: DOID:9004918 ! Menstruation Disturbances
is_a: DOID:9008450 ! Pelvic Pain

[Term]
id: DOID:9008645
name: Aurocephalosyndactyly
alt_id: MIM:109050
synonym: "Auralcephalosyndactyly" EXACT []
xref: MESH:C566235
is_a: DOID:11193 ! syndactyly
is_a: DOID:2340 ! craniosynostosis

[Term]
id: DOID:9008646
name: Dowling-Degos Disease 3
synonym: "DDD3" EXACT []
xref: MIM:615674
is_a: DOID:0060256 ! Dowling-Degos disease
created_by: rgd
creation_date: 2017-12-07T00:00:00Z

[Term]
id: DOID:9008647
name: Myoclonic Epilepsy, Hartung Type
alt_id: MIM:159600
xref: MESH:C563550
is_a: DOID:9005154 ! Myoclonic Epilepsies

[Term]
id: DOID:9008648
name: Thrombocytopenia 4
alt_id: MIM:612004
synonym: "THC4" EXACT []
synonym: "Thrombocytopenia, Autosomal Dominant, 4" EXACT []
xref: MESH:C567438
is_a: DOID:1588 ! thrombocytopenia

[Term]
id: DOID:9008650
name: Ulnar Agenesis and Endocardial Fibroelastosis
alt_id: MIM:276822
xref: MESH:C564756
is_a: DOID:12929 ! endocardial fibroelastosis

[Term]
id: DOID:9008651
name: reproductive system neoplasm
def: "This is a benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system" [NCI:C3674]
synonym: "neoplasm of the reproductive system" EXACT []
synonym: "reproductive neoplasm" EXACT []
synonym: "reproductive system tumor" EXACT []
synonym: "reproductive tumor" EXACT []
synonym: "tumor of the reproductive system" EXACT []
xref: EFO:1000051
is_a: DOID:15 ! reproductive system disease
is_a: DOID:9007150 ! Urogenital Neoplasms
created_by: slaulede
creation_date: 2022-09-13T10:57:20Z

[Term]
id: DOID:9008652
name: Postoperative Atrial Fibrillation
def: "Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA) following cardiac surgery." []
synonym: "POAF" EXACT []
is_a: DOID:0060224 ! atrial fibrillation
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9008653
name: Selective Tooth Agenesis 4
alt_id: MIM:150400
alt_id: RDO:0012841
synonym: "Lateral Incisors, Absence of" EXACT []
synonym: "Lateral Incisors, Pegged or Missing" EXACT []
synonym: "STHAG4" EXACT []
synonym: "Succedaneous Teeth, Agenesis Of" EXACT []
synonym: "TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA" EXACT []
xref: MESH:C563634
is_a: DOID:0050591 ! tooth agenesis

[Term]
id: DOID:9008654
name: FLIEDNER-ZWEIER SYNDROME
def: "This disease is a neurodevelopmental disorder characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies." [MIM:620511]
synonym: "FZS" EXACT []
xref: MIM:620511
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulederkind
creation_date: 2023-11-07T14:00:22Z

[Term]
id: DOID:9008655
name: Gorlin Bushkell Jensen Syndrome
xref: MESH:C537289
is_a: DOID:0050449 ! pachyonychia congenita
is_a: DOID:225 ! syndrome
is_a: DOID:9000648 ! Malformed Nails
is_a: DOID:9002315 ! Kidney Calculi

[Term]
id: DOID:9008656
name: 10p Deletion Syndrome (partial)
alt_id: RDO:0004250
synonym: "Chromosome 10, 10p- Partial" EXACT []
synonym: "Chromosome 10, monosomy 10p" EXACT []
synonym: "chromosome 10, partial deletion (short arm)" EXACT []
synonym: "monosomy 10p" EXACT []
xref: MESH:C538288
is_a: DOID:0060388 ! chromosomal deletion syndrome

[Term]
id: DOID:9008657
name: Urinary Tract Abnormalities
def: "Malformations of the urinary tract (renal tubules and renal pelvis of the kidney, the ureters, the bladder, and the urethra) during development in utero." []
synonym: "Anomalies of the Urinary Tract" EXACT []
xref: RDO:9000033
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:9008658
name: Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia
synonym: "Aughton Sloan Milad syndrome" EXACT []
xref: MESH:C538340
is_a: DOID:2785 ! Dandy-Walker syndrome
is_a: DOID:3307 ! teratoma
is_a: DOID:3827 ! congenital diaphragmatic hernia
is_a: DOID:9005207 ! Nasopharyngeal Neoplasms
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008660
name: Infantile Capillary Hemangioma
alt_id: MIM:602089
synonym: "capillary infantile hemangioma, susceptibility to" RELATED []
synonym: "HCI" EXACT []
synonym: "hereditary capillary hemangioma" EXACT []
xref: MESH:C535860
is_a: DOID:2725 ! capillary hemangioma
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:9008662
name: Hereditary Congenital Facial Paresis 3
alt_id: RDO:9000299
synonym: "HCFP3" EXACT []
xref: MIM:614744
is_a: DOID:9001799 ! Hereditary Congenital Facial Paresis

[Term]
id: DOID:9008663
name: Infantile Liver Failure Syndrome 3
synonym: "ILFS3" EXACT []
xref: MIM:618641
is_a: DOID:0080716 ! infantile liver failure syndrome
created_by: mtutaj
creation_date: 2019-10-25T10:46:25Z

[Term]
id: DOID:9008665
name: Specific Learning Disorder
def: "Diagnosed when there are specific deficits in an individual’s ability to perceive or process information efficiently and accurately. This  disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individual’s performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from DSM-V)" [MESH:D000067559]
synonym: "Specific Learning Disorders" EXACT []
xref: MESH:D000067559
xref: RDO:0016032
is_a: DOID:8927 ! learning disability

[Term]
id: DOID:9008666
name: Trisomy 18-Like Syndrome
alt_id: MIM:601161
xref: MESH:C563382
is_a: DOID:0080014 ! chromosomal disease
is_a: DOID:225 ! syndrome
is_a: DOID:9003960 ! Trisomy
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008667
name: Myoclonic Epilepsy of Lafora 2
def: "A myoclonic epilepsy of Lafora caused by homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22." [MIM:620681]
synonym: "EPM2B" EXACT []
synonym: "Lafora disease 2" EXACT []
synonym: "MELF2" EXACT []
synonym: "progressive myoclonic epilepsy 2B" EXACT []
xref: MIM:620681
is_a: DOID:3534 ! Lafora disease
created_by: tutajm
creation_date: 2024-01-31T09:31:52Z

[Term]
id: DOID:9008668
name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3
synonym: "PFBMFT3" EXACT []
synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3" EXACT []
xref: MIM:616373
is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related

[Term]
id: DOID:9008669
name: Glucocorticoid Receptor Deficiency
synonym: "Body Composition, Beneficial" EXACT []
synonym: "Cortisol Resistance from Glucocorticoid Receptor Defect" EXACT []
synonym: "GCCR" EXACT []
synonym: "GCCR Deficiency" EXACT []
synonym: "GCR Deficiency" EXACT []
synonym: "Glucocorticoid Resistance" EXACT []
synonym: "GLUCOCORTICOID RESISTANCE, CELLULAR" EXACT []
synonym: "GLUCOCORTICOID RESISTANCE, GENERALIZED" EXACT []
synonym: "Glucocorticoid Resistance, Relative" EXACT []
synonym: "GRL Deficiency" EXACT []
synonym: "Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance" EXACT []
xref: MESH:C564221
xref: MIM:615962
xref: MONDO:0014421
xref: NCI:C126809
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9008670
name: Combined Inflammatory and Immunologic Defect
xref: MESH:C565684
xref: RDO:0014254
is_a: DOID:612 ! primary immunodeficiency disease

[Term]
id: DOID:9008671
name: T-Lymphocytopenia
xref: MESH:C536783
is_a: DOID:614 ! lymphopenia

[Term]
id: DOID:9008672
name: Anterior Capsular Rupture, Ocular
def: "A breach in the continuity of the ANTERIOR CHAMBER of the eyeball." [MESH:D057971]
xref: MESH:D057971
xref: RDO:0007808
is_a: DOID:9006447 ! Eye Injuries

[Term]
id: DOID:9008673
name: Diamond-Blackfan Anemia with Microtia and Cleft Palate
xref: MESH:C565256
xref: RDO:0013949
is_a: DOID:1339 ! Diamond-Blackfan anemia
is_a: DOID:674 ! cleft palate
is_a: DOID:9001502 ! Congenital Microtia

[Term]
id: DOID:9008674
name: Thoracic Dysplasia-Hydrocephalus Syndrome
alt_id: MIM:273730
xref: MESH:C564774
is_a: DOID:10908 ! hydrocephalus
is_a: DOID:225 ! syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9008675
name: Dyskinesias
def: "Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES." [MESH:D020820]
synonym: "Abnormal Movement" EXACT []
synonym: "abnormal movements" EXACT []
synonym: "Asterixis" EXACT []
synonym: "Ballismus" EXACT []
synonym: "Dyskinesia" EXACT []
synonym: "Hemiballism" EXACT []
synonym: "Hemiballismus" EXACT []
synonym: "Involuntary Movement" EXACT []
synonym: "Involuntary Movements" EXACT []
synonym: "Linguofacial Dyskinesia" RELATED []
synonym: "Linguofacial Dyskinesias" NARROW []
synonym: "Oral facial Dyskinesia" NARROW []
synonym: "Oral-facial Dyskinesias" NARROW []
synonym: "Orofacial Dyskinesia" NARROW []
synonym: "Orofacial Dyskinesias" NARROW []
synonym: "Tardive Oral Dyskinesia" NARROW []
synonym: "tardive oral dyskinesias" NARROW []
xref: MESH:D020820
is_a: DOID:480 ! movement disease
is_a: DOID:9003814 ! Neurologic Manifestations

[Term]
id: DOID:9008676
name: Hexosaminidase A Deficiency, Adult Type
xref: MESH:C564783
is_a: DOID:3320 ! Tay-Sachs disease

[Term]
id: DOID:9008678
name: Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema
alt_id: MIM:609352
synonym: "EBS2E" EXACT []
synonym: "epidermolysis bullosa simplex with migratory circinate erythema" EXACT []
xref: MESH:C563730
is_a: DOID:4644 ! epidermolysis bullosa simplex
is_a: DOID:9006976 ! Erythema

[Term]
id: DOID:9008679
name: Posterior Column Ataxia with Retinitis Pigmentosa
alt_id: MIM:609033
synonym: "AXPC1" EXACT []
synonym: "PCARP" EXACT []
xref: MESH:C536343
is_a: DOID:10584 ! retinitis pigmentosa
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9008680
name: Respiratory Tract Infections
def: "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases." [MESH:D012141]
synonym: "Respiratory Infections" EXACT []
synonym: "Respiratory Infection, Upper" EXACT []
synonym: "Respiratory Tract Infection" EXACT []
synonym: "Upper Respiratory Infections" EXACT []
synonym: "Upper Respiratory Tract Infections" EXACT []
xref: MESH:D012141
xref: RDO:0000329
is_a: DOID:1579 ! respiratory system disease

[Term]
id: DOID:9008681
name: Deafness
def: "A general term for the complete loss of the ability to hear from both ears." [MESH:D003638]
synonym: "Acquired Deafness" EXACT []
synonym: "Bilateral Deafness" EXACT []
synonym: "Complete Hearing Loss" EXACT []
synonym: "Deaf Mutism" EXACT []
synonym: "DEAFNESS WITH ANATOMICAL INNER EAR ANOMALIES" NARROW []
synonym: "Extreme Hearing Loss" EXACT []
synonym: "Prelingual Deafness" EXACT []
xref: EFO:0001063
xref: MESH:D003638
xref: NCI:C27644
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9008682
name: Velopharyngeal Insufficiency
alt_id: MIM:167500
def: "Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (ADENOIDECTOMY; CLEFT PALATE) or an incompetent PALATOPHARYNGEAL SPHINCTER. It is characterized by hypernasal speech." [MESH:D014681]
synonym: "Inadequate Velopharyngeal Closure" EXACT []
synonym: "Palatopharyngeal Incompetence" EXACT []
synonym: "Velopharyngeal Closures, Inadequate" EXACT []
synonym: "Velopharyngeal Incompetence" EXACT []
xref: MESH:D014681
is_a: DOID:9001018 ! Mouth Abnormalities
is_a: DOID:9004130 ! Pharyngeal Diseases

[Term]
id: DOID:9008683
name: polysubstance abuse
def: "This is a multiple substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. It features the recurring misuse or abuse of two or more drugs in combination despite negative consequences." [https://www.verywellhealth.com/polysubstance-abuse-5212228, PMID:25671013]
synonym: "multiple substance abuse" EXACT []
xref: PMID:14870957
is_a: DOID:302 ! substance abuse
created_by: slaulederkind
creation_date: 2024-02-23T17:12:55Z

[Term]
id: DOID:9008684
name: Symphalangism of Toes
xref: MESH:C566101
xref: MIM:185600
xref: MONDO:0008506
is_a: DOID:11971 ! synostosis
is_a: DOID:227 ! ankylosis

[Term]
id: DOID:9008685
name: Idiopathic Basal Ganglia Calcification 9
def: "This disease is characterized by a combination of features including ataxia, parkinsonism, headache, and psychiatric and cognitive deficits." [MIM:620786]
synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE" EXACT []
synonym: "IBGC9" EXACT []
xref: MIM:620786
is_a: DOID:0060230 ! basal ganglia calcification
created_by: slaulederkind
creation_date: 2024-05-09T15:39:04Z

[Term]
id: DOID:9008686
name: Odontoonychodermal Dysplasia
alt_id: MIM:257980
synonym: "ECTD16" EXACT []
synonym: "ectodermal dysplasia 16, hypo- or hyperhidrotic/hair/tooth/nail type" EXACT []
synonym: "OODD" EXACT []
xref: MESH:C537742
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9001034 ! Odontodysplasia

[Term]
id: DOID:9008687
name: Autosomal Dominant Nonsyndromic Deafness 80
def: "This disease is a nonsyndromic congenital deafness associated with absent or malformed cochleae and eighth cranial nerves; caused by heterozygous mutation in the GREB1L gene on chromosome 18q11." [MIM:619274]
synonym: "autosomal dominant deafness 80" EXACT []
synonym: "DFNA80" EXACT []
synonym: "GREB1L-RELATED CONDITION" BROAD []
xref: MIM:619274
is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness
created_by: mtutaj
creation_date: 2021-04-15T10:51:43Z

[Term]
id: DOID:9008688
name: Podocyte Diseases
def: "A set of diseases affecting the podocytes of the kidney glomerulus, that may or may not be inflammatory." []
xref: RDO:9000075
is_a: DOID:9000104 ! Glomerular Diseases

[Term]
id: DOID:9008689
name: Facial Hypertrichosis
alt_id: MIM:134000
xref: MESH:C565029
is_a: DOID:420 ! hypertrichosis

[Term]
id: DOID:9008690
name: Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
xref: MESH:C563941
xref: MIM:600399
xref: MONDO:0010883
is_a: DOID:4123 ! nail disease
is_a: DOID:9001510 ! Funnel Chest
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9008691
name: Liver Injury
def: "Damage to any part of the liver caused by physical, chemical, or biological agents which characteristically elicit inflammatory reaction" []
xref: RDO:9000017
is_a: DOID:409 ! liver disease

[Term]
id: DOID:9008692
name: Aneuploidy
def: "The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1)." [MESH:D000782]
synonym: "Aneuploid" EXACT []
synonym: "Aneuploid Cell" EXACT []
synonym: "Aneuploid Cells" EXACT []
synonym: "Aneuploidies" EXACT []
synonym: "Aneuploids" EXACT []
xref: MESH:D000782
xref: RDO:0000372
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9008693
name: Familial Atrial Fibrillation 11
alt_id: RDO:9000187
synonym: "ATFB11" EXACT []
xref: MIM:614049
is_a: DOID:0050650 ! familial atrial fibrillation

[Term]
id: DOID:9008694
name: Irresistible Sleepiness, Cataplexy and Onset of Sleep in Desynchronized Phase
xref: MESH:C538497
is_a: DOID:8986 ! narcolepsy

[Term]
id: DOID:9008695
name: Agenesis of Cervical Vertebrae
alt_id: MIM:214290
xref: MESH:C562952
is_a: DOID:1934 ! dysostosis

[Term]
id: DOID:9008696
name: Selective Tooth Agenesis with Orofacial Cleft
alt_id: RDO:0015184
xref: MESH:C566994
is_a: DOID:0050591 ! tooth agenesis
is_a: DOID:674 ! cleft palate
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9008697
name: Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia
alt_id: MIM:248910
xref: MESH:C536033
is_a: DOID:3663 ! cutaneous mastocytosis
is_a: DOID:9001502 ! Congenital Microtia
is_a: DOID:9003483 ! Conductive Hearing Loss

[Term]
id: DOID:9008698
name: NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED
def: "This disease is an X-linked dominant disorder characterized by global developmental delay with hypotonia, motor delay, impaired intellectual development, and speech and language delay. Affected individuals also have dysmorphic facial features, gastrointestinal issues, and ocular anomalies." [MIM:301094]
synonym: "Hijazi-Reis syndrome" EXACT []
synonym: "HIJRS" EXACT []
synonym: "NEDGFAX" EXACT []
synonym: "X-linked neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities" EXACT []
xref: MIM:301094
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9006230 ! Neurologic Gait Disorders
created_by: slaulede
creation_date: 2023-05-02T10:12:59Z

[Term]
id: DOID:9008699
name: Ermine Phenotype
alt_id: MIM:227010
synonym: "Cutaneous albinism hermine phenotype" EXACT []
synonym: "O'Doherty syndrome" EXACT []
synonym: "Pigmentary disorder with hearing loss" EXACT []
xref: MESH:C535508
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:3263 ! piebaldism

[Term]
id: DOID:9008700
name: Familial Lipochrome Histiocytosis
alt_id: MIM:235900
xref: MESH:C562738
is_a: DOID:3405 ! histiocytosis
is_a: DOID:630 ! genetic disease

[Term]
id: DOID:9008701
name: Ameloonychohypohidrotic Syndrome
alt_id: MIM:104570
synonym: "Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis" EXACT []
xref: MESH:C538245
is_a: DOID:11155 ! hypohidrosis
is_a: DOID:225 ! syndrome
is_a: DOID:693 ! dental enamel hypoplasia
is_a: DOID:9000648 ! Malformed Nails

[Term]
id: DOID:9008702
name: Idiopathic Basal Ganglia Calcification, Childhood Onset
alt_id: MIM:114100
synonym: "bilateral striopallidodentate calcinosis, childhood onset" EXACT []
synonym: "IBGC, childhood onset" EXACT []
synonym: "idiopathic nonarteriosclerotic cerebral calcification, childhood onset" EXACT []
xref: MESH:C536276
is_a: DOID:0060230 ! basal ganglia calcification

[Term]
id: DOID:9008703
name: Tryptophanuria with Dwarfism
alt_id: MIM:276100
xref: MESH:C562658
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9008704
name: Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma
alt_id: MIM:611863
xref: MESH:C567512
xref: RDO:0015572
is_a: DOID:12270 ! coloboma
is_a: DOID:9001502 ! Congenital Microtia

[Term]
id: DOID:9008705
name: Angiotensin I-Converting Enzyme, Benign Serum Increase
xref: RDO:9000700
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9008706
name: Menke-Hennekam Syndrome
xref: MIM:PS618332
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: mtutaj
creation_date: 2019-03-27T09:41:55Z

[Term]
id: DOID:9008707
name: Viremia
def: "The presence of viruses in the blood." [MESH:D014766]
synonym: "Viremias" EXACT []
xref: MESH:D014766
is_a: DOID:9004484 ! Sepsis
is_a: DOID:934 ! viral infectious disease

[Term]
id: DOID:9008708
name: Rasmussen Subacute Encephalitis
synonym: "Subacute focal encephalitis of Rasmussen" EXACT []
xref: MESH:C535291
xref: NCI:C125384
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9588 ! encephalitis

[Term]
id: DOID:9008709
name: Senior-Loken Syndrome 6
alt_id: MIM:610189
synonym: "SLSN6" EXACT []
xref: MESH:C565708
is_a: DOID:0050576 ! Senior-Loken syndrome

[Term]
id: DOID:9008710
name: Xeroderma Pigmentosum, Autosomal Dominant, Mild
alt_id: MIM:194400
xref: MESH:C565989
is_a: DOID:0050427 ! xeroderma pigmentosum

[Term]
id: DOID:9008711
name: Dilated Cardiomyopathy 2K
def: "A severe form of autosomal recessive CMD, characterized by predominantly left ventricular involvement, although patients with biventricular disease have been observed. Caused by homozygous or compound heterozygous mutation within the GRINL1A complex transcription unit on chromosome 15q21, affecting the MYZAP and or GCOM1 genes." [MIM:620894]
synonym: "CMD2K" EXACT []
xref: MIM:620894
is_a: DOID:12930 ! dilated cardiomyopathy
created_by: tutajm
creation_date: 2024-07-17T18:45:33Z

[Term]
id: DOID:9008712
name: Young Hughes Syndrome
synonym: "Sex-linked mental retardation, short stature, obesity and hypogonadism" EXACT []
xref: MESH:C536715
xref: RDO:0002376
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1924 ! hypogonadism
is_a: DOID:225 ! syndrome
is_a: DOID:9003307 ! Sex Chromosome Aberrations
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9008713
name: Malignant Mixed Tumor
def: "A malignant tumor composed of more than one type of neoplastic tissue. (Dorland, 27th ed)" []
synonym: "Malignant chondroid syringoma" EXACT []
synonym: "Malignant mixed salivary gland tumor" EXACT []
synonym: "Malignant Mixed Tumors" EXACT []
synonym: "Mixed tumor, malignant" EXACT []
synonym: "Mixed tumor, salivary gland type, malignant" EXACT []
xref: EFO:1000356
xref: MESH:D018198
is_a: DOID:9003765 ! Complex and Mixed Neoplasms

[Term]
id: DOID:9008714
name: Fetal Hydantoin Syndrome
synonym: "Dilantin Embryopathy" EXACT []
synonym: "Phenytoin Embryopathy" EXACT []
xref: MESH:C537922
xref: RDO:0003839
is_a: DOID:225 ! syndrome
is_a: DOID:9007828 ! Abnormalities, Drug-Induced

[Term]
id: DOID:9008716
name: Familial Progressive Scleroderma
synonym: "CREST syndrome" NARROW []
synonym: "systemic sclerosis, susceptibility to" RELATED []
xref: MIM:181750
is_a: DOID:418 ! systemic scleroderma

[Term]
id: DOID:9008717
name: Rib Fractures
def: "Fractures of any of the RIBS." [MESH:D012253]
synonym: "Rib Fracture" EXACT []
xref: EFO:0009620
xref: MESH:D012253
xref: RDO:0006501
is_a: DOID:9001954 ! Thoracic Injuries
is_a: DOID:9002589 ! Bone Fractures

[Term]
id: DOID:9008718
name: Puerperal Infection
def: "An infection occurring in PUERPERIUM, the period of 6-8 weeks after giving birth." [MESH:D011645]
synonym: "Puerperal Infections" EXACT []
xref: EFO:1001407
xref: MESH:D011645
xref: RDO:0006435
is_a: DOID:9001791 ! Puerperal Disorders
is_a: DOID:9008808 ! Pregnancy Complications, Infectious

[Term]
id: DOID:9008719
name: Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig
alt_id: MIM:218649
xref: MESH:C565664
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2340 ! craniosynostosis
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008720
name: Stoelinga-de Koomen-Davis Syndrome
synonym: "Multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects" EXACT []
synonym: "Non erupted teeth with maxillary hypoplasia and genu valgum" EXACT []
xref: MESH:C537496
xref: MONDO:0010104
xref: ORDO:2972
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008214 ! Genu Valgum

[Term]
id: DOID:9008721
name: Muscular Dystrophy, Mabry Type
alt_id: MIM:310000
alt_id: RDO:0013169
xref: MESH:C564096
is_a: DOID:9884 ! muscular dystrophy

[Term]
id: DOID:9008722
name: Mastodynia
def: "Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating." [MESH:D059373]
synonym: "Breast Pain" EXACT []
synonym: "Breast Pains" EXACT []
synonym: "Mammalgia" EXACT []
synonym: "Mammalgias" EXACT []
synonym: "Mastalgia" EXACT []
synonym: "Mastalgias" EXACT []
synonym: "Mastodynias" EXACT []
xref: EFO:1001366
xref: MESH:D059373
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9008724
name: Skull Base Neoplasms
alt_id: DOID:3842
def: "Neoplasms of the base of the skull specifically, differentiated from neoplasms of unspecified sites or bones of the skull (SKULL NEOPLASMS)." []
synonym: "skull base neoplasm" EXACT []
synonym: "skull base neoplasms" EXACT []
synonym: "tumors of skull base" EXACT []
xref: MESH:D019292
is_a: DOID:9001331 ! Skull Neoplasms
created_by: rgd
creation_date: 2017-12-06T00:00:00Z

[Term]
id: DOID:9008726
name: Neoplasm Micrometastasis
def: "Newly arising secondary tumors so small they are difficult to detect by physical examination or routine imaging techniques." [MESH:D061206]
synonym: "Micrometastases" EXACT []
synonym: "Micrometastasis" EXACT []
synonym: "Neoplasm Micrometastase" EXACT []
synonym: "Neoplasm Micrometastases" EXACT []
xref: EFO:0009710
xref: MESH:D061206
xref: RDO:0010054
is_a: DOID:9000965 ! Neoplasm Metastasis

[Term]
id: DOID:9008727
name: Ige Responsiveness, Atopic
alt_id: MIM:147050
synonym: "ATOPIC HYPERSENSITIVITY" NARROW []
synonym: "Atopy, Resistance to" EXACT []
synonym: "ATOPY, SUSCEPTIBILITY TO" NARROW []
synonym: "IgE, Elevated Level of" RELATED []
synonym: "IGEL" EXACT []
synonym: "IgE, LEVEL OF" EXACT []
synonym: "IGER" EXACT []
synonym: "Ige Response Underlying Allergic Asthma and Rhinitis" EXACT []
synonym: "IgE RESPONSE UNDERLYING ALLERGIC ASTHMA AND RHINITIS IgE, ELEVATED LEVEL OF" NARROW []
synonym: "Immunoglobulin E, Basic Level of, in Serum" EXACT []
xref: MESH:C564133
xref: RDO:0013192
is_a: DOID:0060496 ! respiratory allergy

[Term]
id: DOID:9008728
name: PREMATURE OVARIAN FAILURE 24
def: "This disease is characterized by the development of secondary amenorrhea in the fourth decade of life, with a dearth of antral follicles detected on ultrasound." [MIM:_620840]
synonym: "POF24" EXACT []
synonym: "primary ovarian insufficiency 24" EXACT []
xref: MIM:620840
is_a: DOID:9002679 ! Premature Ovarian Failure, Familial
created_by: slaulederkind
creation_date: 2024-06-17T12:23:32Z

[Term]
id: DOID:9008729
name: Mitochondrial Trifunctional Protein Deficiency 1
synonym: "MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 1 WITH MYOPATHY AND NEUROPATHY" NARROW []
synonym: "MTPD1" EXACT []
synonym: "trifunctional protein deficiency, type 1" EXACT []
xref: MIM:609015
is_a: DOID:0111277 ! mitochondrial trifunctional protein deficiency
created_by: mtutaj
creation_date: 2023-03-31T08:44:02Z

[Term]
id: DOID:9008730
name: Infectious Canine Hepatitis
def: "A contagious disease caused by canine adenovirus (ADENOVIRUSES, CANINE) infecting the LIVER, the EYE, the KIDNEY, and other organs in dogs, other canids, and bears. Symptoms include FEVER; EDEMA; VOMITING; and DIARRHEA." [MESH:D006522]
synonym: "Canine Infectious Hepatitides" EXACT []
xref: MESH:D006522
is_a: DOID:9000873 ! Adenoviridae Infections
is_a: DOID:9006855 ! Dog Diseases
is_a: DOID:9007899 ! Animal Viral Hepatitis

[Term]
id: DOID:9008731
name: Craniofacial Abnormalities
def: "Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones." [MESH:D019465]
synonym: "Craniofacial Abnormality" EXACT []
xref: MESH:D019465
is_a: DOID:9005004 ! Musculoskeletal Abnormalities

[Term]
id: DOID:9008732
name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23
def: "A disease characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties. Additional features include white matter abnormalities on brain imaging, increased serum creatine kinase, and dystrophic features." [MIM:618138]
synonym: "Autosomal Recessive Limb-Girdle Muscular Dystrophy 23" EXACT []
synonym: "LGMDR23" EXACT []
xref: MIM:618138
is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy
created_by: slaulede
creation_date: 2018-11-09T16:42:15Z

[Term]
id: DOID:9008733
name: Obesity, Hyperphagia, and Developmental Delay
alt_id: MIM:613886
synonym: "NTRK2-RELATED CONDITION" BROAD []
synonym: "OBHD" EXACT []
xref: MESH:C563938
is_a: DOID:9002916 ! Hyperphagia
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9008734
name: Immunodeficiency 121 with autoinflammation
def: "A complex immunologic disorder characterized clinically by T-, B-, NK+/- severe combined immunodeficiency (SCID) associated with failure to thrive, erythrodermia, diarrhea, and alopecia. Caused by heterozygous mutation in the PSMB10 gene on chromosome 16q22." [MIM:620807]
synonym: "IMD121" EXACT []
xref: MIM:620807
is_a: DOID:612 ! primary immunodeficiency disease
created_by: tutajm
creation_date: 2024-07-08T16:33:39Z

[Term]
id: DOID:9008735
name: Developmental Dysplasia of the Hip 3
def: "A disease characterized by an acetabulum with significantly decreased volume, which increases local stress on the articular surface and causes instability of the hip joint, with pain, disability, and eventually osteoarthritis of the joint. Caused by heterozygous mutation in the LRP1 gene on chromosome 12q13." [MIM:620690]
synonym: "DDH3" EXACT []
xref: MIM:620690
is_a: DOID:0060930 ! developmental dysplasia of the hip
created_by: tutajm
creation_date: 2024-01-31T09:44:13Z

[Term]
id: DOID:9008736
name: Chromosome 13q-Mosaicism
synonym: "Mosiacism of chromosome 13q" EXACT []
xref: MESH:C535486
xref: RDO:0000623
is_a: DOID:0080014 ! chromosomal disease

[Term]
id: DOID:9008737
name: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS
def: "This is a syndrome characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs." [MIM:619227]
synonym: "VCTERL" EXACT []
synonym: "VCTERL SYNDROME" EXACT []
synonym: "WBP11 SPLICEOSOMOPATHY" EXACT []
xref: MIM:619227
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2021-04-16T12:54:50Z

[Term]
id: DOID:9008739
name: Athetosis
def: "A dyskinesia characterized by an inability to maintain the fingers, toes, tongue, or other body parts in a stable position, resulting in continuous slow, sinusoidal, and flowing involuntary movements. This condition is frequently accompanied by CHOREA, where it is referred to as choreoathetosis. Athetosis may occur as a manifestation of BASAL GANGLIA DISEASES or DRUG TOXICITY. (From Adams et al., Principles of Neurology, 6th ed, p76)" [MESH:D001264]
synonym: "Athetoid Movement" EXACT []
synonym: "Athetoid Movements" EXACT []
synonym: "Athetoses" EXACT []
synonym: "Hammond's Disease" EXACT []
synonym: "Hammond's Diseases" EXACT []
synonym: "Hammond Disease" EXACT []
synonym: "Hammond Diseases" EXACT []
synonym: "Hammonds Disease" EXACT []
xref: MESH:D001264
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9008740
name: Subacute Cerebellar Degeneration
xref: MESH:C535352
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:9002955 ! Nerve Degeneration

[Term]
id: DOID:9008741
name: Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome
synonym: "OI/EDS combined syndrome" EXACT []
xref: MESH:C565178
xref: MIM:PS619115
is_a: DOID:12347 ! osteogenesis imperfecta
is_a: DOID:13359 ! Ehlers-Danlos syndrome
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9008742
name: Zazam Sheriff Phillips Syndrome
synonym: "Aniridia, ectopia lentis, abnormal upper incisors and mental retardation" EXACT []
synonym: "Aniridia, lens luxation, mental retardation" EXACT []
xref: MESH:C536723
xref: RDO:0002386
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12271 ! aniridia
is_a: DOID:225 ! syndrome
is_a: DOID:9004201 ! Ectopia Lentis
is_a: DOID:9009007 ! Tooth Abnormalities

[Term]
id: DOID:9008743
name: Deafness, Congenital Heart Defects, and Posterior Embryotoxon
alt_id: MIM:617992
synonym: "DCHE" EXACT []
xref: MESH:C566604
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9004538 ! Hearing Loss

[Term]
id: DOID:9008744
name: MHC CLASS II DEFICIENCY 3
def: "This disease is a rare autosomal recessive immunodeficiency characterized by the onset of recurrent and persistent infections from birth. Infectious agents include bacteria, viruses, fungi, and protozoa, usually affecting the respiratory and gastrointestinal tract. Laboratory studies show decreased CD4+ T cells, hypogammaglobulinemia, an inverted CD4:CD8 ratio, and absence of MHC type II antigens (HLA-DR, -DQ, and -DP) on the surface of antigen-presenting cells." [MIM:620816]
synonym: "BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C" EXACT []
synonym: "MHC2D3" EXACT []
xref: MIM:620816
is_a: DOID:5812 ! MHC class II deficiency
created_by: slaulederkind
creation_date: 2024-06-14T10:31:28Z

[Term]
id: DOID:9008745
name: MHC CLASS II DEFICIENCY 2
def: "This disease is an immunodeficiency characterized by the onset of recurrent infections (bacterial, viral, fungal, parasitic) in early infancy. Features include failure to thrive, chronic diarrhea, and pulmonary infections. Laboratory studies show decreased numbers of CD4+ T cells with increased CD8+ T cells, impaired T-cell responses, hypogammaglobulinemia, inverted CD4:CD8 ratio, and decreased or absent expression of type II MHC antigens (e.g., HLA-DR, -DQ, and -DP) on the cell surface." [MIM:620815]
synonym: "BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B" EXACT []
synonym: "MHC2D2" EXACT []
xref: MIM:620815
is_a: DOID:5812 ! MHC class II deficiency
created_by: slaulederkind
creation_date: 2024-06-14T10:23:12Z

[Term]
id: DOID:9008746
name: Pasteurellaceae Infections
def: "Infections with bacteria of the family PASTEURELLACEAE." [MESH:D016871]
synonym: "Pasteurellaceae Infection" EXACT []
xref: EFO:1001386
xref: MESH:D016871
is_a: DOID:9008945 ! Gram-Negative Bacterial Infections

[Term]
id: DOID:9008747
name: Amyotrophic Dystonic Paraplegia
alt_id: MIM:105300
xref: MESH:C566292
is_a: DOID:1059 ! intellectual disability
is_a: DOID:2476 ! hereditary spastic paraplegia
is_a: DOID:543 ! dystonia
is_a: DOID:9649 ! congenital nystagmus

[Term]
id: DOID:9008748
name: Lactation Disorders
def: "Disturbances of MILK secretion in either SEX, not necessarily related to PREGNANCY." [MESH:D007775]
synonym: "Hypogalactia" EXACT []
synonym: "Hypogalactias" EXACT []
synonym: "Lactation Disorder" EXACT []
xref: MESH:D007775
is_a: DOID:3463 ! breast disease
is_a: DOID:9001791 ! Puerperal Disorders

[Term]
id: DOID:9008749
name: Leukonychia Totalis
synonym: "Hereditary white nails" EXACT []
synonym: "Leukonychia Punctata" EXACT []
synonym: "Porcelain nails" EXACT []
xref: MESH:C535889
xref: RDO:0001249
is_a: DOID:4123 ! nail disease
is_a: DOID:9005660 ! Hypopigmentation

[Term]
id: DOID:9008750
name: Chromosome 9, Trisomy 9q32
synonym: "Duplication 9q32" EXACT []
synonym: "Trisomy 9q32" EXACT []
xref: MESH:C535453
xref: RDO:0000573
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9008751
name: NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1
def: "This disease is an autosomal recessive disorder characterized by profound neurodevelopmental impairment, microcephaly, pathognomonic craniofacial features, ectodermal defects, and tetraparesis." [MIM:620888]
synonym: "NEDFET1" EXACT []
xref: MIM:620888
is_a: DOID:9004429 ! Neurodevelopmental Disorders
relationship: has_component DOID:2121 ! ectodermal dysplasia
relationship: has_component DOID:9002079 ! Paresis
created_by: slaulederkind
creation_date: 2024-09-17T17:36:18Z

[Term]
id: DOID:9008752
name: Aortic Injuries
synonym: "aorta injury" EXACT []
synonym: "aortic injury" EXACT []
xref: RDO:9000716
is_a: DOID:520 ! aortic disease
is_a: DOID:9002056 ! Arterial Injury

[Term]
id: DOID:9008753
name: Intravenous Substance Abuse
def: "Abuse, overuse, or misuse of a substance by its injection into a vein." [MESH:D015819]
synonym: "Intravenous Drug Abuse" EXACT []
synonym: "intravenous drug use disorder" EXACT []
synonym: "Parenteral Drug Abuse" EXACT []
xref: MESH:D015819
is_a: DOID:302 ! substance abuse

[Term]
id: DOID:9008754
name: Primary Lymphedema with Myelodysplasia
synonym: "Emberger syndrome" EXACT []
xref: MIM:614038
is_a: DOID:0050908 ! myelodysplastic syndrome
is_a: DOID:4977 ! lymphedema

[Term]
id: DOID:9008755
name: Adenine Nucleotide Translocator Deficiency
xref: MESH:C566309
is_a: DOID:539 ! ophthalmoplegia

[Term]
id: DOID:9008756
name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9
def: "An autosomal dominant short telomere syndrome characterized by the development of pulmonary fibrosis or hematologic abnormalities, including leukopenia and leukemia, in adulthood. Caused by heterozygous mutation in the NOP10 gene on chromosome 15q14." [MIM:620400]
synonym: "PFBMFT9" EXACT []
xref: MIM:620400
is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related
created_by: mtutaj
creation_date: 2023-06-06T12:43:34Z

[Term]
id: DOID:9008757
name: Metastatic Paraganglioma
def: "This tumor is a paraganglioma that metastasizes to regional or distant anatomic sites. Common sites of metastasis include the lymph nodes, lungs, bones, and liver." [NCI:C8559]
synonym: "Malignant Paraganglioma" EXACT []
synonym: "Malignant Paraganglionic Neoplasm" EXACT []
synonym: "Malignant Paraganglionic Tumor" EXACT []
synonym: "Malignant Paraganglion Neoplasm" EXACT []
synonym: "Malignant Paraganglion Tumor" EXACT []
xref: EFO:1000360
is_a: DOID:0050773 ! paraganglioma
created_by: slaulede
creation_date: 2023-01-12T12:00:18Z

[Term]
id: DOID:9008758
name: Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects
alt_id: MIM:183802
xref: MESH:C566662
is_a: DOID:0080016 ! spina bifida
is_a: DOID:9001611 ! Urogenital Abnormalities
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008759
name: Female Athlete Triad Syndrome
def: "A condition of competitive female athletes in which there are interrelated problems of feeding and eating disorders; AMENORRHEA; and OSTEOPOROSIS." [MESH:D053716]
synonym: "Female Athlete Triad" EXACT []
xref: EFO:1001790
xref: MESH:D053716
is_a: DOID:11476 ! osteoporosis
is_a: DOID:225 ! syndrome
is_a: DOID:28 ! endocrine system disease
is_a: DOID:8670 ! eating disorder

[Term]
id: DOID:9008760
name: Oliguria
def: "Decreased URINE output that is below the normal range. Oliguria can be defined as urine output of less than or equal to 0.5 or 1 ml/kg/hr depending on the age." [MESH:D009846]
synonym: "Oligurias" EXACT []
xref: MESH:D009846
is_a: DOID:9003919 ! Urination Disorders
is_a: DOID:9007629 ! Urological Manifestations

[Term]
id: DOID:9008761
name: Thai Symphalangism Syndrome
alt_id: MIM:608028
xref: MESH:C564303
is_a: DOID:1148 ! polydactyly
is_a: DOID:13714 ! anodontia
is_a: DOID:225 ! syndrome
is_a: DOID:381 ! arthropathy

[Term]
id: DOID:9008762
name: HID Syndrome
alt_id: MIM:602540
synonym: "Hystrix-Like Ichthyosis with Deafness" EXACT []
xref: MESH:C566528
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1697 ! ichthyosis
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9008763
name: Femoral Fractures
def: "Fractures of the femur." [MESH:D005264]
synonym: "Femoral Fracture" EXACT []
synonym: "femur fracture" EXACT []
xref: EFO:0008553
xref: MESH:D005264
is_a: DOID:9002589 ! Bone Fractures
is_a: DOID:9008911 ! Leg Injuries

[Term]
id: DOID:9008764
name: Immunodeficiency 111
def: "An autosomal recessive immunologic disorder characterized by childhood onset of failure to thrive, skin manifestations, pancytopenia, and susceptibility to recurrent infections. Caused by homozygous or compound heterozygous mutation in the DPP9 gene on chromosome 19p13." [MIM:620331]
synonym: "Hatipoglu immunodeficiency syndrome" EXACT []
synonym: "HATIS" EXACT []
synonym: "IMD111" EXACT []
xref: MIM:620331
is_a: DOID:12450 ! pancytopenia
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9001276 ! Failure to Thrive
is_a: DOID:9007472 ! Skin Manifestations
created_by: mtutaj
creation_date: 2023-04-28T09:24:48Z

[Term]
id: DOID:9008765
name: Malarial Anemia
def: "Result of ineffective erythropoiesis following malarial infection." []
is_a: DOID:12365 ! malaria
is_a: DOID:2355 ! anemia
created_by: rgd
creation_date: 2016-06-06T00:00:00Z

[Term]
id: DOID:9008766
name: Myopia 20, Autosomal Dominant
def: "Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear. Myopia 20 maps to chromosome 13q12.12. (OMIM)" []
synonym: "MYP20" EXACT []
xref: MIM:614166
is_a: DOID:11830 ! myopia

[Term]
id: DOID:9008767
name: Thrombocytopenia 8
def: "An autosomal dominant syndromic disorder characterized by early-childhood onset of chronic thrombocytopenia with anisotropy and immature enlarged platelets, usually without spontaneous bleeding episodes. Affected individuals have dysmorphic facial features and variable developmental delay with speech delay and mildly impaired intellectual development (Latham et al., 2018). Caused by heterozygous mutation in the ACTB gene on chromosome 7p22." [MIM:620475]
synonym: "ACTB-associated syndromic thrombocytopenia" EXACT []
synonym: "ACTB-AST" EXACT []
synonym: "THC8" EXACT []
synonym: "Thrombocytopenia 8, with dysmorphic features and developmental delay" EXACT []
synonym: "Thrombocytopenia, autosomal dominant, 8" EXACT []
xref: MIM:620475
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:9001487 ! Facies
is_a: DOID:9008582 ! Developmental Disease
created_by: mtutaj
creation_date: 2023-09-01T09:17:19Z

[Term]
id: DOID:9008768
name: Sensorineural Deafness with Hypertrophic Cardiomyopathy
synonym: "Cardiomyopathy and Deafness" EXACT []
synonym: "PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME" EXACT []
xref: MESH:C565236
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:11984 ! hypertrophic cardiomyopathy

[Term]
id: DOID:9008769
name: Hydroxyprolinemia
alt_id: MIM:237000
synonym: "4-Hydroxy-L-Proline Oxidase Deficiency" EXACT []
xref: MESH:C562669
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9008770
name: Arteriosclerosis, Severe Juvenile
alt_id: MIM:208060
xref: MESH:C565941
is_a: DOID:2349 ! arteriosclerosis

[Term]
id: DOID:9008772
name: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED
def: "This disease is an autosomal recessive disorder characterized by the onset of variable and slowly progressive neurologic abnormalities in childhood or adolescence with survival to late adulthood. Features include spastic paraparesis, cerebellar ataxia, peripheral axonal neuropathy, ocular abnormalities, and leukoencephalopathy affecting the deep cerebral white matter on brain imaging. Laboratory studies show variably increased plasma and urinary levels of delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and uroporphyrin due to decreased HMBS enzyme activity." [MIM:620711]
synonym: "LENCEP" EXACT []
xref: MIM:620711
is_a: DOID:13268 ! porphyria
is_a: DOID:9002704 ! Leukoencephalopathies
created_by: slaulederkind
creation_date: 2024-03-25T12:18:01Z

[Term]
id: DOID:9008773
name: Hodgkin Disease, Y-Linked Pseudoautosomal
alt_id: MIM:400021
alt_id: RDO:0013133
synonym: "Hodgkin Lymphoma, Y-Linked Pseudoautosomal" EXACT []
xref: MESH:C564034
is_a: DOID:0050738 ! Y-linked monogenic disease
is_a: DOID:8567 ! Hodgkin's lymphoma

[Term]
id: DOID:9008774
name: Pneumonic Pasteurellosis
def: "Bovine respiratory disease found in animals that have been shipped or exposed to CATTLE recently transported. The major agent responsible for the disease is MANNHEIMIA HAEMOLYTICA and less commonly, PASTEURELLA MULTOCIDA or HAEMOPHILUS SOMNUS. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the LUNG. They are considered opportunistic pathogens following STRESS, PHYSIOLOGICAL and/or a viral infection. The resulting bacterial fibrinous BRONCHOPNEUMONIA is often fatal." [MESH:D012766]
synonym: "Shipping Fever" EXACT []
xref: EFO:0007449
xref: MESH:D012766
is_a: DOID:9006345 ! Bovine Respiratory Disease Complex
is_a: DOID:9008225 ! Respirovirus Infections
is_a: DOID:9008746 ! Pasteurellaceae Infections

[Term]
id: DOID:9008775
name: Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome
synonym: "CAMAK Syndrome" EXACT []
xref: MESH:C566861
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:4667 ! kyphosis
is_a: DOID:83 ! cataract

[Term]
id: DOID:9008776
name: Tonic Pupil
def: "A pupillary abnormality characterized by a poor pupillary light reaction, reduced accommodation, iris sector palsies, an enhanced pupillary response to near effort that results in a prolonged, 'tonic' constriction, and slow pupillary redilation. This condition is associated with injury to the postganglionic parasympathetic innervation to the pupil. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp492-500)" [MESH:D015845]
synonym: "Adie's Pupil" EXACT []
synonym: "Adie Pupil" EXACT []
synonym: "Adies Pupil" EXACT []
synonym: "Myotonic Pupil" EXACT []
synonym: "Myotonic Pupils" EXACT []
synonym: "Neuropathic Tonic Pupil" EXACT []
synonym: "Neuropathic Tonic Pupils" EXACT []
synonym: "Pupil, Local Tonic" EXACT []
synonym: "Pupillotonia" EXACT []
synonym: "Pupillotonias" EXACT []
synonym: "Pupils, Adie's" EXACT []
synonym: "Pupils, Local Tonic" EXACT []
synonym: "Tonic Pupils" EXACT []
xref: MESH:D015845
is_a: DOID:238 ! pupil disease

[Term]
id: DOID:9008777
name: Zygomatic Fractures
def: "Fractures of the zygoma." [MESH:D015051]
synonym: "Zygomatic Fracture" EXACT []
xref: MESH:D015051
xref: RDO:0006842
is_a: DOID:9002209 ! Skull Fractures
is_a: DOID:9004460 ! Maxillofacial Injuries

[Term]
id: DOID:9008778
name: Coronary Artery Calcification
def: "Calcification of coronary arteries involves early deposition of calcium in the formation of an atherosclerotic plaque." []
synonym: "CAC" EXACT []
xref: EFO:0004643
xref: EFO:0004723
xref: RDO:9000026
is_a: DOID:0111582 ! hereditary arterial and articular multiple calcification syndrome

[Term]
id: DOID:9008779
name: Achondroplasia and Swiss Type Agammaglobulinemia
synonym: "Agammaglobulinaemia and achondroplasia" EXACT []
xref: MESH:C536020
is_a: DOID:2583 ! agammaglobulinemia
is_a: DOID:4480 ! achondroplasia

[Term]
id: DOID:9008780
name: syndromic X-linked intellectual developmental disorder 37
def: "A developmental disorder showing phenotypic variability and variable severity, caused by hemizygous or heterozygous mutation in the ZFX gene on chromosome Xp22." []
synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37" EXACT []
synonym: "Intellectual developmental disorder, X-linked syndromic 37" EXACT []
synonym: "MRXS37" EXACT []
xref: MIM:301118
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
created_by: tutajm
creation_date: 2024-05-14T09:06:58Z

[Term]
id: DOID:9008781
name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES
def: "This disease is an autosomal recessive disorder characterized by global developmental delay apparent in infancy, axial hypotonia, peripheral spasticity, and early-onset seizures of various types and severity. Affected individuals have delayed walking or are unable to walk and show impaired intellectual development with poor or absent speech." [MIM:620001]
synonym: "NEDSSBA" EXACT []
xref: MIM:620001
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulederkind
creation_date: 2024-03-26T10:42:30Z

[Term]
id: DOID:9008782
name: AIDS-Associated Nephropathy
def: "Renal syndrome in human immunodeficiency virus-infected patients characterized by nephrotic syndrome, severe proteinuria, focal and segmental glomerulosclerosis with distinctive tubular and interstitial changes, enlarged kidneys, and peculiar tubuloreticular structures. The syndrome is distinct from heroin-associated nephropathy as well as other forms of kidney disease seen in HIV-infected patients." [MESH:D016263]
synonym: "AIDS Associated Nephropathies" EXACT []
synonym: "AIDS Nephropathies" EXACT []
synonym: "AIDS Nephropathy" EXACT []
synonym: "HIV Associated Nephropathies" EXACT []
synonym: "HIV Associated Nephropathy" EXACT []
synonym: "HIV Related Nephropathies" EXACT []
synonym: "HIV Related Nephropathy" EXACT []
synonym: "Human Immunodeficiency Virus Associated Nephropathy" EXACT []
xref: EFO:0007313
xref: MESH:D016263
is_a: DOID:557 ! kidney disease
is_a: DOID:635 ! acquired immunodeficiency syndrome

[Term]
id: DOID:9008785
name: Yusho Disease
xref: MESH:C536720
xref: RDO:0002383
is_a: DOID:13268 ! porphyria

[Term]
id: DOID:9008786
name: congenital myasthenic syndrome 4
def: "This disease is a congenital myasthenic syndrome characterized by autosomal inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the acetylcholine receptor channel that has_material_basis_in homozygous, heterozygous, compound heterozygous, or rarely biallelic mutation in the CHRNE gene on chromosome 17p13." []
xref: MESH:C536090
xref: MESH:C565289
xref: MIM:605809
xref: MIM:608931
xref: MIM:616324
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: slaulederkind
creation_date: 2024-01-09T13:14:18Z

[Term]
id: DOID:9008787
name: Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies
synonym: "IDDSADF" EXACT []
xref: EFO:0010653
xref: MIM:618672
is_a: DOID:1059 ! intellectual disability
is_a: DOID:12849 ! autistic disorder
is_a: DOID:9001487 ! Facies
is_a: DOID:9005466 ! Language Development Disorders
created_by: slaulede
creation_date: 2020-01-10T14:20:25Z

[Term]
id: DOID:9008788
name: Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy
alt_id: MIM:183050
xref: MESH:C566669
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:9001480 ! Muscle Rigidity
is_a: DOID:9002121 ! Spinocerebellar Ataxias

[Term]
id: DOID:9008789
name: Type 2 Diabetes Mellitus 3
alt_id: MIM:603694
synonym: "NIDDM3" EXACT []
synonym: "noninsulin-dependent diabetes mellitus 3" EXACT []
synonym: "T2D3" EXACT []
xref: MESH:C566342
is_a: DOID:9352 ! type 2 diabetes mellitus

[Term]
id: DOID:9008790
name: Nablus Mask-Like Facial Syndrome
alt_id: MIM:608156
synonym: "chromosome 8q22.1 deletion syndrome" EXACT []
synonym: "NMLFS" EXACT []
xref: MESH:C536110
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008791
name: Familial Cutaneous Papillomatosis
alt_id: MIM:167900
synonym: "CARP" EXACT []
synonym: "PAPILLOMATOSIS, CONFLUENT AND RETICULATED" EXACT []
synonym: "PAPILLOMATOSIS, RETICULATED AND CONFLUENT, OF GOUGEROT AND CARTEAUD" EXACT []
xref: MESH:C566832
is_a: DOID:2615 ! papilloma
is_a: DOID:9004464 ! Skin Neoplasms

[Term]
id: DOID:9008792
name: Microphthalmia/Coloboma 11
def: "A disease characterized by ocular coloboma and related phenotypes such as inferior chorioretinal hypoplasia and/or optic disc hypoplasia, with occasional microphthalmia or high myopia. Caused by heterozygous mutation in the FZD5 gene on chromosome 2q33." [MIM:620731]
synonym: "MCOPCB11" EXACT []
xref: MIM:620731
is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma
created_by: tutajm
creation_date: 2024-03-18T11:25:03Z

[Term]
id: DOID:9008793
name: Equine Strongyle Infections
alt_id: RDO:0006628
def: "Infection of horses with parasitic nematodes of the superfamily STRONGYLOIDEA. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum." [MESH:D013319]
synonym: "Equine Strongyle Infection" EXACT []
synonym: "Equine Strongyloses" EXACT []
synonym: "Equine Strongylosis" EXACT []
xref: MESH:D013319
is_a: DOID:9001187 ! Horse Diseases
is_a: DOID:9003369 ! Strongylida Infections
is_a: DOID:9006372 ! Animal Helminthiasis

[Term]
id: DOID:9008794
name: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY
synonym: "APUG" EXACT []
xref: MIM:614262
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:10159 ! osteonecrosis
is_a: DOID:14415 ! Legg-Calve-Perthes disease
is_a: DOID:539 ! ophthalmoplegia
is_a: DOID:9005246 ! Paralysis

[Term]
id: DOID:9008795
name: Microcephaly Seizures Genital Hypoplasia
synonym: "Microcephaly micropenis convulsions" EXACT []
synonym: "Microcephaly micropenis seizures" EXACT []
xref: MESH:C537540
is_a: DOID:10907 ! microcephaly
is_a: DOID:11832 ! visual epilepsy
is_a: DOID:9001611 ! Urogenital Abnormalities

[Term]
id: DOID:9008796
name: Wiedemann Grosse Dibbern Syndrome
xref: MESH:C536704
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:420 ! hypertrichosis
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008797
name: Facial Asymmetry
def: "Congenital or acquired asymmetry of the face." [MESH:D005146]
synonym: "Facial Asymmetries" EXACT []
xref: MESH:D005146
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9008798
name: Chemke Oliver Mallek Syndrome
synonym: "multiple ophthalmic anomalies and digital hypoplasia" EXACT []
xref: MESH:C535922
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008296 ! Eye Abnormalities

[Term]
id: DOID:9008799
name: Anaplasmosis
def: "A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA." [MESH:D000712]
synonym: "Anaplasmoses" EXACT []
xref: MESH:D000712
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9004985 ! Animal Diseases
is_a: DOID:9008029 ! Anaplasmataceae Infections

[Term]
id: DOID:9008801
name: Selective Tooth Agenesis 5
alt_id: MIM:610926
alt_id: RDO:0014310
synonym: "He-Zhao Deficiency" EXACT []
synonym: "Hypodontia-Oligodontia 5" EXACT []
synonym: "STHAG5" EXACT []
xref: MESH:C565757
is_a: DOID:0050591 ! tooth agenesis

[Term]
id: DOID:9008802
name: Periodic Fever, Menstrual Cycle-Dependent
synonym: "Luteal-phase-dependent febrile episode" EXACT []
synonym: "Luteal-phase-dependent periodic fever" EXACT []
synonym: "Menstrual cycle-dependent febrile episode" EXACT []
xref: MIM:614674
xref: MONDO:0044660
xref: ORDO:498251
is_a: DOID:9000723 ! Female Urogenital Diseases and Pregnancy Complications
is_a: DOID:9000972 ! Fever
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases

[Term]
id: DOID:9008803
name: Nicolau Syndrome
def: "An uncommon complication of INTRAMUSCULAR INJECTION leading to variable degrees of necrosis of skin and underlying tissue." [MESH:D065148]
synonym: "Embolia Cutis Medicamentosa" EXACT []
synonym: "Livedo-like Dermatitides" EXACT []
synonym: "Livedo like Dermatitis" EXACT []
synonym: "Nicolau's Livedoid Syndrome" EXACT []
synonym: "Nicolau's Syndrome" EXACT []
synonym: "Nicolau Livedoid Dermatitis" EXACT []
synonym: "Nicolau Livedoid Syndrome" EXACT []
synonym: "Nicolaus Livedoid Syndrome" EXACT []
synonym: "Nicolaus Syndrome" EXACT []
xref: MESH:D065148
xref: MONDO:0971103
xref: ORDO:664787
is_a: DOID:225 ! syndrome
is_a: DOID:9005236 ! Drug Eruptions

[Term]
id: DOID:9008804
name: Aphakia
def: "Absence of crystalline lens totally or partially from field of vision, from any cause except after cataract extraction. Aphakia is mainly congenital or as result of LENS DISLOCATION AND SUBLUXATION." [MESH:D001035]
synonym: "Aphakias" EXACT []
xref: MESH:D001035
xref: RDO:0003689
is_a: DOID:110 ! lens disease

[Term]
id: DOID:9008805
name: Overbite
def: "A malocclusion in which maxillary incisor and canine teeth project over the mandibular teeth excessively. The overlap is measured perpendicular to the occlusal plane and is also called vertical overlap. When the overlap is measured parallel to the occlusal plane it is referred to as overjet." [MESH:D057887]
synonym: "Deep Bite" EXACT []
synonym: "Deep Bites" EXACT []
synonym: "Dental Overjet" EXACT []
synonym: "Dental Overjets" EXACT []
synonym: "Incisor Protrusion" EXACT []
synonym: "Incisor Protrusions" EXACT []
synonym: "Overbites" EXACT []
xref: MESH:D057887
is_a: DOID:9006722 ! Malocclusion, Angle Class II

[Term]
id: DOID:9008806
name: Oral Hemorrhage
def: "Bleeding from the blood vessels of the mouth, which may occur as a result of injuries to the mouth, accidents in oral surgery, or diseases of the gums." [MESH:D006472]
synonym: "oral hemorrhages" EXACT []
xref: MESH:D006472
is_a: DOID:403 ! mouth disease
is_a: DOID:9006894 ! Oral Manifestations
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9008807
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE
def: "This disease is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, dysmorphic facial features, and brain anomalies, including ventriculomegaly and progressive white matter loss." [MIM:620851]
synonym: "NEDHAFA" EXACT []
synonym: "RENU" EXACT []
synonym: "ReNU syndrome" EXACT []
synonym: "RNU4-2-ASSOCIATED NEURODEVELOPMENTAL DISORDER" EXACT []
xref: MIM:620851
xref: MONDO:0971172
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005466 ! Language Development Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulederkind
creation_date: 2024-07-12T10:48:24Z

[Term]
id: DOID:9008808
name: Pregnancy Complications, Infectious
def: "The co-occurrence of pregnancy and an INFECTION. The infection may precede or follow FERTILIZATION." [MESH:D011251]
synonym: "Infectious Pregnancy Complication" EXACT []
synonym: "Pregnancies, Infectious Complications" EXACT []
xref: MESH:D011251
xref: RDO:0001969
is_a: DOID:9004702 ! Pregnancy Complications

[Term]
id: DOID:9008809
name: Body Temperature Changes
def: "Significant alterations in temperature of the human body, above or below 98.6 degrees F. or 37 degrees C. when taken orally." [MESH:D001832]
synonym: "Body Temperature Change" EXACT []
xref: MESH:D001832
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9008810
name: Spontaneous Rupture
def: "Tear or break of an organ, vessel or other soft part of the body, occurring in the absence of external force." [MESH:D012422]
synonym: "Spontaneous Ruptures" EXACT []
xref: MESH:D012422
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9008811
name: Tachypnea
def: "Increased RESPIRATORY RATE." [MESH:D059246]
synonym: "Tachypneas" EXACT []
xref: EFO:0009840
xref: MESH:D059246
xref: RDO:0010000
is_a: DOID:9000575 ! Respiratory Signs and Symptoms
is_a: DOID:9004659 ! Respiration Disorders

[Term]
id: DOID:9008812
name: Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency
synonym: "Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency" EXACT []
xref: MESH:C567493
is_a: DOID:9281 ! phenylketonuria

[Term]
id: DOID:9008813
name: Thecoma
def: "A gonadal stromal neoplasm composed only of THECA CELLS, occurring mostly in the postmenopausal OVARY. It is filled with lipid-containing spindle cells and produces ESTROGENS that can lead to ENDOMETRIAL HYPERPLASIA; UTERINE HEMORRHAGE; or other malignancies in postmenopausal women and sexual precocity in girls. When tumors containing theca cells also contain FIBROBLASTS, they are identified as thecoma-fibroma tumors with less active hormone production." [MESH:D013798]
synonym: "Theca Cell Tumor" EXACT []
synonym: "Theca Cell Tumors" EXACT []
synonym: "Thecomas" EXACT []
synonym: "Thecoma, somatic" NARROW []
xref: MESH:D013798
is_a: DOID:192 ! sex cord-gonadal stromal tumor
is_a: DOID:9002762 ! Ovarian Neoplasms

[Term]
id: DOID:9008815
name: Mirror Movements 3
alt_id: RDO:9001279
synonym: "MRMV3" EXACT []
xref: MIM:616059
is_a: DOID:0111153 ! congenital mirror movement disorder
is_a: DOID:9008675 ! Dyskinesias

[Term]
id: DOID:9008816
name: Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus
alt_id: MIM:600089
alt_id: RDO:0004044
synonym: "Congenital absence of insulin-producing beta cells with diabetes mellitus" EXACT []
xref: MESH:C538111
is_a: DOID:11717 ! neonatal diabetes

[Term]
id: DOID:9008817
name: Transmissible Gastroenteritis, of Swine
def: "A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a CORONAVIRUS." [MESH:D005761]
synonym: "Porcine Transmissible Gastroenteritides" EXACT []
synonym: "Porcine Transmissible Gastroenteritis" EXACT []
synonym: "Swine Transmissible Gastroenteritides" EXACT []
synonym: "Swine Transmissible Gastroenteritis" EXACT []
xref: MESH:D005761
is_a: DOID:0080599 ! Coronavirus infectious disease
is_a: DOID:9008435 ! Swine Diseases

[Term]
id: DOID:9008818
name: Retinal Dystrophy, Early Onset Severe
xref: MESH:C565741
is_a: DOID:8501 ! fundus dystrophy
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9008819
name: Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome
def: "A disease characterized by childhood-onset autoantibody-negative diabetes mellitus and bilateral sensorineural deafness, as well as short stature, microcephaly, and developmental delay. Caused by homozygous mutation in the MANF gene on chromosome 3p21." [MIM:620651]
synonym: "DDDS" EXACT []
xref: MIM:620651
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:10907 ! microcephaly
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9351 ! diabetes mellitus
created_by: tutajm
creation_date: 2023-12-12T17:57:37Z

[Term]
id: DOID:9008820
name: Visceral Pain
def: "Pain originating from internal organs (VISCERA) associated with autonomic phenomena (PALLOR; SWEATING; NAUSEA; and VOMITING). It often becomes a REFERRED PAIN." [MESH:D059265]
synonym: "Visceral Pains" EXACT []
xref: MESH:D059265
is_a: DOID:9001048 ! Nociceptive Pain

[Term]
id: DOID:9008821
name: Otitis Media with Effusion
def: "Inflammation of the middle ear with a clear pale yellow-colored transudate." [MESH:D010034]
synonym: "Middle Ear Effusion" EXACT []
synonym: "Middle Ear Effusions" EXACT []
synonym: "Secretory Otitis Media" EXACT []
synonym: "Serous Otitis Media" EXACT []
xref: EFO:0007415
xref: MESH:D010034
xref: RDO:0006257
is_a: DOID:10754 ! otitis media

[Term]
id: DOID:9008822
name: Chromosome 16, Trisomy 16q
synonym: "Duplication 16q" EXACT []
synonym: "Trisomy 16q" EXACT []
xref: MESH:C538042
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9008823
name: Avian Malaria
def: "Any of a group of infections of fowl caused by protozoa of the genera PLASMODIUM, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria." [MESH:D008289]
synonym: "Avian Malarias" EXACT []
xref: MESH:D008289
is_a: DOID:12365 ! malaria
is_a: DOID:9006114 ! Bird Diseases

[Term]
id: DOID:9008824
name: Sarcopenia
def: "Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." [MESH:D055948]
synonym: "Sarcopenias" EXACT []
xref: EFO:1000653
xref: MESH:D055948
xref: RDO:0007724
is_a: DOID:767 ! muscular atrophy
is_a: DOID:9007801 ! Diseases of the Aged

[Term]
id: DOID:9008825
name: Brunoni Syndrome
synonym: "Mesomelia, radial hypoplasia bifid thumb unusual facies" EXACT []
synonym: "Mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia" EXACT []
xref: MESH:C537408
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9009006 ! Mesomelic Dysplasia

[Term]
id: DOID:9008826
name: YOU-HOOVER-FONG SYNDROME
def: "This is a disorder characterized by severely delayed global development, microcephaly, abnormal balance and movement." [MIM:616954]
synonym: "TELO2-related intellectual disability-neurodevelopmental disorder" EXACT []
synonym: "YHFS" EXACT []
xref: EFO:0009061
xref: MIM:616954
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: rgd
creation_date: 2017-04-19T00:00:00Z

[Term]
id: DOID:9008827
name: Glossalgia
def: "Painful sensations in the tongue, including a sensation of burning." [MESH:D005926]
synonym: "Glossalgias" EXACT []
synonym: "Glossodynia" EXACT []
synonym: "Glossodynias" EXACT []
synonym: "Glossopyroses" EXACT []
synonym: "Glossopyrosis" EXACT []
xref: MESH:D005926
is_a: DOID:10944 ! tongue disease
is_a: DOID:9000641 ! Pain

[Term]
id: DOID:9008828
name: Li-Fraumeni-Like Syndrome
xref: MESH:C567189
is_a: DOID:3012 ! Li-Fraumeni syndrome

[Term]
id: DOID:9008829
name: Nijmegen Breakage Syndrome-Like Disorder
alt_id: MIM:613078
synonym: "microcephaly and spontaneous chromosome instability without immunodeficiency" EXACT []
synonym: "NBSLD" EXACT []
synonym: "NBS-LIKE DISORDER" EXACT []
synonym: "RAD50 deficiency" EXACT []
xref: MESH:C567767
xref: NCI:C153178
is_a: DOID:10907 ! microcephaly
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders

[Term]
id: DOID:9008830
name: Vasovagal Syncope
alt_id: RDO:0002560
def: "Loss of consciousness due to a reduction in blood pressure that is associated with an increase in vagal tone and peripheral vasodilation." [MESH:D019462]
synonym: "cerebral syncope" EXACT []
synonym: "Cerebral Syncopes" EXACT []
synonym: "Malignant Neurocardiogenic Syncope" EXACT []
synonym: "Malignant Neurocardiogenic Syncopes" EXACT []
synonym: "Neurally Mediated Faint" EXACT []
synonym: "Neurally Mediated Faints" EXACT []
synonym: "Neurocardiogenic Syncope" EXACT []
synonym: "Neurocardiogenic Syncopes" EXACT []
synonym: "Neurogenic Syncope" EXACT []
synonym: "Neurogenic Syncopes" EXACT []
synonym: "Supine Syncope" EXACT []
synonym: "Supine Syncopes" EXACT []
synonym: "Syncope, Vasovagal, Neurally-Mediated" EXACT []
synonym: "Vasodepressor Syncope" EXACT []
synonym: "Vasodepressor Syncopes" EXACT []
synonym: "vasovagal syncopes" EXACT []
xref: MESH:D019462
is_a: DOID:9000727 ! Syncope
is_a: DOID:9004453 ! Orthostatic Intolerance

[Term]
id: DOID:9008831
name: Abuse Dwarfism Syndrome
synonym: "Child abuse dwarfism" EXACT []
synonym: "Psychosocial dwarfism" EXACT []
xref: MESH:C535569
xref: RDO:0000765
is_a: DOID:225 ! syndrome
is_a: DOID:9007370 ! Child Behavior Disorders
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008086 ! Developmental Disabilities

[Term]
id: DOID:9008832
name: FOR Heavy Chain Disease Protein, Human
synonym: "gamma 1 heavy chain disease protein FOR, human" EXACT []
xref: MESH:C483996
is_a: DOID:0060125 ! heavy chain disease

[Term]
id: DOID:9008833
name: Pestivirus Infections
def: "Infections with viruses of the genus PESTIVIRUS, family FLAVIVIRIDAE." [MESH:D018182]
synonym: "Pestivirus Infection" EXACT []
synonym: "Pestivirus infectious disease" EXACT []
xref: EFO:0007432
xref: MESH:D018182
is_a: DOID:9008551 ! Flaviviridae Infections

[Term]
id: DOID:9008834
name: Maple Syrup Urine Disease, Type 1A
alt_id: MIM:248600
synonym: "Maple Syrup Urine Disease, Intermediate, Type IA" EXACT []
synonym: "Maple Syrup Urine Disease, Type IA" EXACT []
synonym: "MSUD1A" EXACT []
xref: MESH:C535710
is_a: DOID:9269 ! maple syrup urine disease

[Term]
id: DOID:9008835
name: Splenic Rupture
def: "Rupture of the SPLEEN due to trauma or disease." [MESH:D013161]
synonym: "Splenic Ruptures" EXACT []
xref: MESH:D013161
is_a: DOID:2529 ! splenic disease
is_a: DOID:9001932 ! Abdominal Injuries
is_a: DOID:9005630 ! Rupture

[Term]
id: DOID:9008836
name: Catheter-Related Infections
def: "Infections resulting from the use of catheters. Proper aseptic technique, site of catheter placement, material composition, and virulence of the organism are all factors that can influence possible infection." [MESH:D055499]
synonym: "Catheter-Associated Infection" EXACT []
synonym: "Catheter Associated Infections" EXACT []
synonym: "Catheter-Related Infection" EXACT []
xref: MESH:D055499
is_a: DOID:9004384 ! Bacterial Infections and Mycoses

[Term]
id: DOID:9008837
name: Severe Congenital Neutropenia 11, Autosomal Dominant
def: "A disease characterized by the onset of recurrent infections, mainly bacterial, in early childhood. Caused by heterozygous mutation in the SEC61A1 gene on chromosome 3q21." [MIM:620674]
synonym: "SCN11" EXACT []
synonym: "severe congenital neutropenia 11" EXACT []
xref: MIM:620674
is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia
created_by: tutajm
creation_date: 2024-01-19T10:35:34Z

[Term]
id: DOID:9008838
name: Pick Complex
xref: MESH:C563966
is_a: DOID:9002031 ! Frontotemporal Lobar Degeneration

[Term]
id: DOID:9008839
name: Factor V and Factor VIII, Combined Deficiency of, 2
synonym: "F5F8D2" EXACT []
xref: MIM:613625
is_a: DOID:12134 ! factor VIII deficiency
is_a: DOID:2216 ! factor V deficiency

[Term]
id: DOID:9008840
name: DNA Repair-Deficiency Disorders
def: "Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE." [MESH:D049914]
synonym: "Chromosome Instability Syndrome" EXACT []
synonym: "Chromosome Instability Syndromes" EXACT []
synonym: "Deficient DNA Repair" EXACT []
synonym: "Deficient DNA Repairs" EXACT []
synonym: "DNA Repair-Deficiencies" EXACT []
synonym: "DNA Repair Deficiency" EXACT []
synonym: "DNA Repair-Deficiency Disorder" EXACT []
xref: EFO:0008499
xref: MESH:D049914
is_a: DOID:0014667 ! disease of metabolism

[Term]
id: DOID:9008841
name: Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia
alt_id: MIM:603641
xref: MESH:C566352
xref: MONDO:0011352
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:1800 ! neuroendocrine carcinoma
is_a: DOID:693 ! dental enamel hypoplasia
is_a: DOID:9003216 ! Salivary Gland Neoplasms

[Term]
id: DOID:9008843
name: Flail Chest
def: "A complication of multiple RIB FRACTURES; RIB and STERNUM fractures, or thoracic surgery. A portion of the THORACIC WALL becomes isolated from the RIB CAGE and exhibits paradoxical respiration." [MESH:D005409]
synonym: "Stove in Chest" EXACT []
xref: MESH:D005409
is_a: DOID:9001954 ! Thoracic Injuries

[Term]
id: DOID:9008844
name: Serous Cystadenoma
def: "A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue, with a malignant potential several times greater than that of mucinous cystadenoma (CYSTADENOMA, MUCINOUS). It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size. (Dorland, 27th ed; from Hughes, Obstetric-Gynecologic Terminology, 1972)" [MESH:D018293]
synonym: "Serous Cystadenomas" EXACT []
xref: EFO:0002504
xref: MESH:D018293
is_a: DOID:2634 ! cystadenoma

[Term]
id: DOID:9008845
name: Oocyte Maturation Defect 2
synonym: "Oocyte/zygote/embryo maturation arrest 2" EXACT []
synonym: "OOMD2" EXACT []
synonym: "OZEMA2" EXACT []
xref: MIM:616780
is_a: DOID:9007456 ! Female Infertility

[Term]
id: DOID:9008847
name: Sensorineural Deafness and Migraine
def: "A syndrome combining recurrent unilateral pulsatile headaches and hearing loss resulting from damage to the COCHLEA." []
is_a: DOID:10003 ! sensorineural hearing loss
is_a: DOID:225 ! syndrome
is_a: DOID:6364 ! migraine
created_by: rgd
creation_date: 2016-07-12T00:00:00Z

[Term]
id: DOID:9008848
name: Slow Coronary Flow
def: "A condition described by the presence of an unexplained delay in the progression of intracoronary contrast during angiography." []
xref: NCI:C165530
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9008851
name: Megarbane Jalkh Syndrome
alt_id: MIM:612785
synonym: "developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure" EXACT []
xref: MESH:C548071
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008852
name: Respiratory Underresponsiveness to Hypoxia and Hypercapnia
alt_id: MIM:267480
xref: MESH:C564848
is_a: DOID:11162 ! respiratory failure

[Term]
id: DOID:9008853
name: Specific Language Impairment 4
alt_id: MIM:612514
synonym: "SLI4" EXACT []
xref: MESH:C567288
is_a: DOID:0060135 ! apraxia
is_a: DOID:0060244 ! specific language impairment

[Term]
id: DOID:9008854
name: Autosomal Recessive Nonsyndromic Deafness 125
def: "A disease characterized by congenital nonsyndromic sensorineural hearing loss. Caused by homozygous mutation in the GAS2 gene on chromosome 11p14." [MIM:620877]
synonym: "Deafness, autosomal recessive 125" EXACT []
synonym: "DFNB125" EXACT []
xref: MIM:620877
is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness
created_by: tutajm
creation_date: 2024-07-17T16:57:39Z

[Term]
id: DOID:9008855
name: Brachyolmia Type 2
alt_id: MIM:613678
alt_id: RDO:0012563
synonym: "BCYM2" EXACT []
synonym: "brachyolmia, Maroteaux type" EXACT []
synonym: "spondyloepiphyseal dysplasia, Maroteaux type" EXACT []
xref: MESH:C563218
is_a: DOID:0050690 ! brachyolmia

[Term]
id: DOID:9008856
name: HIV-Associated Lipodystrophy Syndrome
def: "Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors." [MESH:D039682]
synonym: "HALS" EXACT []
synonym: "HIV Associated Lipodystrophy" EXACT []
synonym: "HIV Lipodystrophy Syndrome" EXACT []
xref: EFO:1001348
xref: MESH:D039682
is_a: DOID:225 ! syndrome
is_a: DOID:526 ! human immunodeficiency virus infectious disease
is_a: DOID:811 ! lipodystrophy

[Term]
id: DOID:9008857
name: Postaxial Polydactyly, Type A8
def: "A disease characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails. PAPA8 is caused by homozygous mutation in the GLI1 gene on chromosome 12q13. (OMIM)" []
synonym: "PAPA8" EXACT []
xref: MIM:618123
is_a: DOID:9003071 ! Postaxial Polydactyly
created_by: slaulede
creation_date: 2019-01-16T16:59:48Z

[Term]
id: DOID:9008858
name: Arthrogryposis, Impaired Intellectual Development, and Seizures
synonym: "AMRS" EXACT []
synonym: "arthrogryposis, mental retardation, and seizures" EXACT []
synonym: "AUTISM SPECTRUM DISORDER - EPILEPSY - ARTHROGRYPOSIS SYNDROME" EXACT []
xref: MIM:615553
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy

[Term]
id: DOID:9008860
name: Hip Injuries
def: "General or unspecified injuries involving the hip." [MESH:D025981]
xref: MESH:D025981
xref: RDO:0005806
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9008861
name: Wound Infection
def: "Invasion of a wound by pathogenic microorganisms." [MESH:D014946]
synonym: "Wound Infections" EXACT []
xref: MESH:D014946
xref: RDO:0006652
is_a: DOID:9004384 ! Bacterial Infections and Mycoses

[Term]
id: DOID:9008862
name: Short Stature, Developmental Delay, and Congenital Heart Defects
synonym: "SDDHD" EXACT []
synonym: "TKT deficiency" EXACT []
synonym: "transketolase deficiency" EXACT []
xref: MIM:617044
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:9007661 ! Dwarfism
is_a: DOID:9008086 ! Developmental Disabilities
created_by: rgd
creation_date: 2016-08-10T00:00:00Z

[Term]
id: DOID:9008863
name: Malignant Granular Cell Tumor
is_a: DOID:0050687 ! cell type cancer
is_a: DOID:2411 ! granular cell tumor
created_by: rgd
creation_date: 2017-12-13T00:00:00Z

[Term]
id: DOID:9008864
name: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS
synonym: "NEDSPLB" EXACT []
synonym: "neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities" EXACT []
synonym: "perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis" EXACT []
synonym: "PMGYCHA" EXACT []
xref: MIM:616531
is_a: DOID:0070338 ! cerebellar hypoplasia
is_a: DOID:0080924 ! bilateral perisylvian polymicrogyria
is_a: DOID:0080954 ! arthrogryposis multiplex congenita
created_by: rgd
creation_date: 2017-03-30T00:00:00Z

[Term]
id: DOID:9008865
name: Entamoebiasis
def: "Infection with amoebae of the genus ENTAMOEBA. Infection with E. histolytica causes DYSENTERY, AMEBIC and LIVER ABSCESS, AMEBIC." [MESH:D004749]
synonym: "amoebiasis due to Entamoeba histolytica" EXACT []
synonym: "entamoebiases" EXACT []
xref: MESH:C531613
xref: MESH:D004749
is_a: DOID:9181 ! amebiasis

[Term]
id: DOID:9008866
name: Partially Edentulous Jaw
def: "Absence of teeth from a portion of the mandible and/or maxilla." [MESH:D007576]
xref: MESH:D007576
is_a: DOID:9001706 ! Edentulous Jaw

[Term]
id: DOID:9008867
name: C3 Glomerulopathy 3
synonym: "C3G3" EXACT []
synonym: "C3 GLOMERULONEPHRITIS" EXACT []
synonym: "CFHR5 deficiency" EXACT []
synonym: "CFHR5 nephropathy" EXACT []
synonym: "CFH-RELATED DENSE DEPOSIT DISEASE / MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS TYPE II" BROAD []
synonym: "nephropathy due to CFHR5 deficiency" EXACT []
xref: MIM:614809
is_a: DOID:2920 ! membranoproliferative glomerulonephritis

[Term]
id: DOID:9008868
name: Chromosome 12 Ring
xref: MESH:C538298
is_a: DOID:9006940 ! Ring Chromosomes

[Term]
id: DOID:9008869
name: Lattice Corneal Dystrophy Type 1
alt_id: MIM:122200
synonym: "Biber-Haab-Dimmer Dystrophy" EXACT []
synonym: "CDL1" EXACT []
synonym: "Lattice Corneal Dystrophy Type I" EXACT []
synonym: "LCD1" EXACT []
xref: MESH:C537881
is_a: DOID:8943 ! lattice corneal dystrophy

[Term]
id: DOID:9008870
name: Chromosome 16q12 Duplication Syndrome
def: "Characterized by early-onset progressive cone dystrophy, with early blue cone involvement." []
synonym: "cone dystrophy with early-onset tritanopic color vision defect" EXACT []
xref: MIM:619649
is_a: DOID:0050795 ! cone dystrophy
is_a: DOID:0060429 ! chromosomal duplication syndrome
created_by: mtutaj
creation_date: 2021-12-07T17:11:46Z

[Term]
id: DOID:9008871
name: Hand Deformities
def: "Alterations or deviations from normal shape or size which result in a disfigurement of the hand." [MESH:D006226]
synonym: "Hand Deformity" EXACT []
xref: MESH:D006226
xref: RDO:0002624
is_a: DOID:17 ! musculoskeletal system disease

[Term]
id: DOID:9008872
name: Autosomal Dominant Intellectual Developmental Disorder 73
def: "A highly variable neurodevelopmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features. Caused by heterozygous mutation in the TAF4 gene on chromosome 20q13." [MIM:620450]
synonym: "MRD73" EXACT []
synonym: "T4ND" EXACT []
synonym: "TAF4-related NDD" EXACT []
synonym: "TAF4-related neurodevelopmental disorder" EXACT []
xref: MIM:620450
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: mtutaj
creation_date: 2023-07-25T10:15:27Z

[Term]
id: DOID:9008873
name: Chromosome 19, Trisomy 19q
synonym: "Duplication 19q" EXACT []
synonym: "Trisomy 19q" EXACT []
xref: MESH:C538311
is_a: DOID:9003960 ! Trisomy

[Term]
id: DOID:9008874
name: ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME
def: "This disease is characterized by congenital severe tortuosity of the aorta and its side branches, including the carotid, pulmonary, and subclavian arteries. Affected individuals experience prenatal and neonatal fractures; fracture risk appears to diminish with age." [MIM:620908]
synonym: "ATBFS" EXACT []
xref: MIM:620908
is_a: DOID:0080001 ! bone disease
is_a: DOID:65 ! connective tissue disease
created_by: slaulederkind
creation_date: 2024-09-13T10:12:54Z

[Term]
id: DOID:9008875
name: Steatitis
alt_id: DOID:4025
def: "A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" []
synonym: "steatitides" EXACT []
xref: EFO:1001191
xref: MESH:D013231
is_a: DOID:9004985 ! Animal Diseases
is_a: DOID:9006575 ! Vitamin E Deficiency

[Term]
id: DOID:9008876
name: Samson Gardner Syndrome
synonym: "Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia" EXACT []
xref: MESH:C537230
is_a: DOID:225 ! syndrome
is_a: DOID:9009045 ! Gardner Syndrome

[Term]
id: DOID:9008877
name: Familial Partial Lipodystrophy Type 9
def: "An autosomal recessive metabolic disorder characterized by the loss of adipose tissue resulting in a lean appearance with muscular hypertrophy, usually most apparent in the limbs and trunk. Caused by homozygous mutation in the PLAAT3 gene on chromosome 11q12." [MIM:620683]
synonym: "FPLD9" EXACT []
xref: MIM:620683
is_a: DOID:0050440 ! familial partial lipodystrophy
created_by: tutajm
creation_date: 2024-01-31T09:39:43Z

[Term]
id: DOID:9008879
name: Self Mutilation
def: "The act of injuring one's own body to the extent of cutting off or permanently destroying a limb or other essential part of a body." [MESH:D012652]
xref: MESH:D012652
is_a: DOID:9001600 ! Wounds and Injuries

[Term]
id: DOID:9008881
name: Coronary Artery Disease, Development of, in HIV
xref: MESH:C563569
is_a: DOID:3393 ! coronary artery disease
is_a: DOID:526 ! human immunodeficiency virus infectious disease

[Term]
id: DOID:9008882
name: IMMUNODEFICIENCY 119
def: "This disease is an autosomal recessive immunologic disorder characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. Laboratory studies show hypogammaglobulinemia, lymphopenia, reduced memory B cells, and neutropenia, resulting in altered adaptive immunity." [OMIM:620825]
synonym: "IMD119" EXACT []
xref: OMIM:620825
is_a: DOID:612 ! primary immunodeficiency disease
created_by: slaulederkind
creation_date: 2024-07-11T16:25:14Z

[Term]
id: DOID:9008883
name: Major Affective Disorder 8
alt_id: MIM:612357
synonym: "MAFD8" EXACT []
xref: MESH:C567530
is_a: DOID:3312 ! bipolar disorder

[Term]
id: DOID:9008884
name: Decompression Sickness
def: "A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death." [MESH:D003665]
synonym: "Bends" EXACT []
synonym: "Caisson Disease" EXACT []
synonym: "Caisson Diseases" EXACT []
xref: MESH:D003665
is_a: DOID:9002160 ! Barotrauma

[Term]
id: DOID:9008885
name: Staphylococcal Infections
def: "Infections with bacteria of the genus STAPHYLOCOCCUS." [MESH:D013203]
synonym: "Methicillin-Susceptible Staphylococcus Aureus Infection" NARROW []
synonym: "skin and soft tissue Staphylococcus aureus infection" NARROW []
synonym: "Staphylococcal Infection" EXACT []
synonym: "Vancomycin-Resistant Staphylococcus Aureus Infection" NARROW []
xref: EFO:0005681
xref: EFO:0008557
xref: EFO:0008558
xref: EFO:1001489
xref: MESH:D013203
is_a: DOID:9002823 ! Gram-Positive Bacterial Infections

[Term]
id: DOID:9008887
name: Microvascular Angina
def: "ANGINA PECTORIS or angina-like chest pain with a normal coronary arteriogram and positive EXERCISE TEST. The cause of the syndrome is unknown. While its recognition is of clinical importance, its prognosis is excellent. (Braunwald, Heart Disease, 4th ed, p1346; Jablonski Dictionary of Syndromes & Eponymic Diseases, 2d ed). It is different from METABOLIC SYNDROME X, a syndrome characterized by INSULIN RESISTANCE and HYPERINSULINEMIA, that has increased risk for cardiovascular disease." [MESH:D017566]
synonym: "Angina Pectoris with Normal Coronary Arteriogram" EXACT []
synonym: "Angina Syndrome X" EXACT []
synonym: "Angina X Syndromes" EXACT []
synonym: "Cardiac Syndrome X" EXACT []
xref: MESH:D017566
is_a: DOID:9000483 ! Angina Pectoris

[Term]
id: DOID:9008889
name: White Forelock with Malformations
alt_id: MIM:277740
xref: GARD:10081
xref: MESH:C536700
xref: MONDO:0010199
xref: ORDO:2475
is_a: DOID:10123 ! pigmentation disease
is_a: DOID:421 ! hair disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008890
name: Pseudohypoaldosteronism, Type IIE
alt_id: RDO:9000659
synonym: "CUL3-RELATED CONDITION" BROAD []
synonym: "CUL3-RELATED DISORDER" BROAD []
synonym: "PHA2E" EXACT []
synonym: "PSEUDOHYPOALDOSTERONISM TYPE 2E" EXACT []
xref: MIM:614496
is_a: DOID:4479 ! pseudohypoaldosteronism

[Term]
id: DOID:9008891
name: Splenogonadal Fusion with Limb Defects and Micrognathia
alt_id: MIM:183300
synonym: "splenogonadal fusion, limb defects, micrognatia" EXACT []
synonym: "Splenogonadal fusion limb defects syndrome" EXACT []
synonym: "Splenogonadal Fusion Limb Defect Syndrome" EXACT []
xref: MESH:C537318
is_a: DOID:9006294 ! Congenital Limb Deformities
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008892
name: Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
def: "An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. (OMIM)" []
synonym: "BRPF1-RELATED CONDITION" EXACT []
synonym: "IDDDFP" EXACT []
xref: EFO:0009070
xref: MIM:617333
is_a: DOID:0060260 ! ptosis
is_a: DOID:10348 ! blepharophimosis
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9008514 ! Psychomotor Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008893
name: Dystocia
def: "Slow or difficult OBSTETRIC LABOR or CHILDBIRTH." [MESH:D004420]
synonym: "Dystocias" EXACT []
xref: EFO:1000911
xref: MESH:D004420
xref: MONDO:0006737
is_a: DOID:9000610 ! Obstetric Labor Complications

[Term]
id: DOID:9008894
name: Samson Viljoen Syndrome
xref: MESH:C537231
is_a: DOID:225 ! syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9002049 ! Anophthalmia
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9008499 ! Microstomia
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9008895
name: Familial Hidradenitis Suppurativa
synonym: "familial acne inversa" EXACT []
xref: MESH:C538118
is_a: DOID:2280 ! hidradenitis suppurativa

[Term]
id: DOID:9008897
name: Diffuse Mesangial Sclerosis
synonym: "Diffuse isolated mesangial sclerosis" EXACT []
synonym: "Familial mesangial sclerosis" EXACT []
synonym: "Nephrotic syndrome, early onset with diffuse mesangial sclerosis" EXACT []
xref: MESH:C537346
is_a: DOID:1184 ! nephrotic syndrome
is_a: DOID:9007896 ! Sclerosis

[Term]
id: DOID:9008898
name: Vitelliform Macular Dystrophy 4
def: "A disease characterized by late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculography (EOG). (OMIM)" []
synonym: "IMPG1-RELATED CONDITION" BROAD []
synonym: "VMD4" EXACT []
xref: MIM:616151
xref: MONDO:0014508
is_a: DOID:0050661 ! vitelliform macular dystrophy
created_by: rgd
creation_date: 2017-05-04T00:00:00Z

[Term]
id: DOID:9008900
name: Spinal Osteochondrosis
def: "A bone disorder involving ossification centers (EPIPHYSES) of the VERTEBRAL COLUMN." [MESH:D055035]
synonym: "Osteochondrosis of Spine" EXACT []
synonym: "Spinal Osteochondroses" EXACT []
synonym: "Spine Osteochondroses" EXACT []
synonym: "Spine Osteochondrosis" EXACT []
xref: EFO:0008576
xref: MESH:D055035
is_a: DOID:0060564 ! spinal disease
is_a: DOID:8125 ! osteochondrosis

[Term]
id: DOID:9008901
name: Anencephaly and Spina Bifida X-Linked
alt_id: RDO:0001916
synonym: "X-linked anencephaly-spina bifida" EXACT []
xref: MESH:C536359
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0060668 ! anencephaly
is_a: DOID:0080016 ! spina bifida

[Term]
id: DOID:9008902
name: Polycystic Bone Disease
alt_id: MIM:604771
xref: MESH:C536324
is_a: DOID:9008327 ! Bone Cysts

[Term]
id: DOID:9008903
name: Uropathy Distal Obstructive Polydactyly
xref: MESH:C536483
xref: RDO:0002084
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9008905
name: Oocyte/Zygote/Embryo Maturation Arrest 18
def: "A female infertility due to early embryonic arrest caused by homozygous or compound heterozygous mutation in the NLRP2 gene on chromosome 19q13." []
synonym: "OZEMA18" EXACT []
xref: MIM:620332
is_a: DOID:9007456 ! Female Infertility
created_by: mtutaj
creation_date: 2023-04-18T09:39:30Z

[Term]
id: DOID:9008906
name: Myotoxicity
def: "Damage to the muscle or its function secondary to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION. (MESH)" []
synonym: "Drug Associated Myopathies" EXACT []
synonym: "Drug Associated Myopathy" EXACT []
synonym: "Drug Induced Myopathies" EXACT []
synonym: "Drug Induced Myopathy" EXACT []
synonym: "Drug Related Myopathies" EXACT []
synonym: "Drug Related Myopathy" EXACT []
synonym: "musculoskeletal toxicity" EXACT []
synonym: "Myalgia-Arthralgia Syndrome" EXACT []
synonym: "Toxic Myopathies" EXACT []
synonym: "Toxic Myopathy" EXACT []
xref: EFO:0011055
xref: MESH:D000081030
is_a: DOID:0080000 ! muscular disease
is_a: DOID:9000111 ! Radiation Injuries
is_a: DOID:9004611 ! Pathologic Processes
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions
created_by: mtutaj
creation_date: 2020-01-30T17:53:31Z

[Term]
id: DOID:9008907
name: Immuno-Hemolytic Anemia
synonym: "Familial auto-immune hemolytic anemia" EXACT []
xref: MESH:C538437
xref: RDO:0004409
is_a: DOID:718 ! autoimmune hemolytic anemia

[Term]
id: DOID:9008908
name: Diffuse Corticomeningeal Angiomatosis of Divry and Van Bogaert
alt_id: MIM:206570
synonym: "Divry-Van Bogaert syndrome" EXACT []
xref: MESH:C536367
is_a: DOID:9004079 ! Angiomatosis
is_a: DOID:9007502 ! Brain Neoplasms

[Term]
id: DOID:9008909
name: Stuve-Wiedemann Syndrome 1
alt_id: MIM:601559
synonym: "SCHWARTZ-JAMPEL SYNDROME, NEONATAL" EXACT []
synonym: "Schwartz Jampel syndrome neonatal" EXACT []
synonym: "SCHWARTZ-JAMPEL SYNDROME, TYPE 2" EXACT []
synonym: "SJS2" EXACT []
synonym: "STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME" EXACT []
synonym: "STWS" EXACT []
synonym: "STWS1" EXACT []
synonym: "Stüve-Wiedemann syndrome" EXACT []
synonym: "STÜVE-WIEDEMANN SYNDROME 1" EXACT []
synonym: "SWS" EXACT []
xref: MESH:C537502
is_a: DOID:9004577 ! Stuve-Wiedemann Syndrome

[Term]
id: DOID:9008910
name: autosomal recessive distal hereditary motor neuronopathy 11
def: "A disease characterized by onset of slowly progressive distal muscle weakness and atrophy and spasticity of the lower limbs in the first decade of life. Caused by homozygous mutation in the RTN2 gene on chromosome 19q13." [MIM:620854]
synonym: "HMNR11" EXACT []
synonym: "Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity" EXACT []
xref: MIM:620854
is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy
created_by: tutajm
creation_date: 2024-07-17T15:14:04Z

[Term]
id: DOID:9008911
name: Leg Injuries
def: "General or unspecified injuries involving the leg." [MESH:D007869]
synonym: "Leg Injury" EXACT []
xref: EFO:0009508
xref: MESH:D007869
xref: RDO:0005588
is_a: DOID:9004073 ! limb injury

[Term]
id: DOID:9008912
name: Ovalocytosis, Malaysian-Melanesian-Filipino Type
alt_id: MIM:109270
alt_id: MIM:166900
alt_id: RDO:0014641
alt_id: RDO:0014642
synonym: "EL4" EXACT []
synonym: "ELLIPTOCYTOSIS 4" EXACT []
synonym: "ELLIPTOCYTOSIS, STOMATOCYTIC HEREDITARY" EXACT []
synonym: "HE, STOMATOCYTIC" EXACT []
synonym: "SAO" EXACT []
synonym: "southeast asian ovalocytosis" EXACT []
xref: MESH:C566230
xref: MESH:C566231
is_a: DOID:2373 ! hereditary elliptocytosis

[Term]
id: DOID:9008913
name: Chromosome 17q23.1-q23.2 Duplication Syndrome
xref: MIM:613618
is_a: DOID:0060429 ! chromosomal duplication syndrome
is_a: DOID:11836 ! clubfoot
created_by: mtutaj
creation_date: 2022-08-22T10:16:04Z

[Term]
id: DOID:9008914
name: Lead Poisoning
def: "Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of LEAD or lead compounds." [MESH:D007855]
synonym: "Lead Poisonings" EXACT []
xref: MESH:D007855
is_a: DOID:9000046 ! Poisoning

[Term]
id: DOID:9008915
name: Ataxia with Fasciculations
alt_id: MIM:108700
xref: MESH:C566246
is_a: DOID:9001745 ! Fasciculation
is_a: DOID:9004866 ! Ataxia

[Term]
id: DOID:9008916
name: Prenatal Bowing
alt_id: MIM:264050
xref: MESH:C564873
is_a: DOID:0080006 ! bone development disease

[Term]
id: DOID:9008917
name: Immunodeficiency 122
def: "An autosomal recessive inborn error of immunity characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin. Caused by homozygous mutation in the POLD3 gene on chromosome 11q13." [MIM:620869]
synonym: "IMD122" EXACT []
xref: MIM:620869
is_a: DOID:612 ! primary immunodeficiency disease
created_by: tutajm
creation_date: 2024-07-17T15:25:50Z

[Term]
id: DOID:9008918
name: Hypomyelinating Leukodystrophy 27
def: "This disease is an autosomal recessive neurologic disorder characterized by global developmental delay with impaired motor and intellectual development apparent from infancy. Caused by homozygous mutation in the POLR1A gene on chromosome 2p11." [MIM:620675]
synonym: "HLD27" EXACT []
synonym: "POLR1A-RELATED CONDITION" BROAD []
xref: MIM:620675
is_a: DOID:0060786 ! hypomyelinating leukodystrophy
created_by: tutajm
creation_date: 2024-01-19T10:43:32Z

[Term]
id: DOID:9008920
name: Spinal Arterial Venous Malformations with Cutaneous Hemangiomas
xref: MESH:C566282
xref: RDO:0014678
is_a: DOID:11294 ! arteriovenous malformation
is_a: DOID:255 ! hemangioma

[Term]
id: DOID:9008923
name: Chromosome 3, Monosomy 3q27
synonym: "Deletion 3q27" EXACT []
synonym: "Monosomy 3q27" EXACT []
xref: MESH:C536810
is_a: DOID:9008165 ! Chromosome Deletion

[Term]
id: DOID:9008924
name: Female Pseudohermaphroditism with Skeletal Anomalies
alt_id: MIM:264270
xref: MESH:C564869
is_a: DOID:9005004 ! Musculoskeletal Abnormalities
is_a: DOID:9005851 ! 46, XX Disorders of Sex Development

[Term]
id: DOID:9008925
name: Familial Multiple Trichodiscomas
alt_id: MIM:190340
def: "An autosomal dominant dermatologic condition characterized by the appearance of multiple skin-colored, firm, flat or dome-shaped papules on the pinnae and the central area of the face in childhood or adolescence. (OMIM)" []
synonym: "familial multiple discoid fibromas" EXACT []
synonym: "FMDF" EXACT []
synonym: "hereditary multiple trichodiscomas" EXACT []
xref: MESH:C536847
is_a: DOID:0050871 ! fibroma
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes

[Term]
id: DOID:9008926
name: Arbovirus Encephalitis
def: "Infections of the brain caused by arthropod-borne viruses (i.e., arboviruses) primarily from the families TOGAVIRIDAE; FLAVIVIRIDAE; BUNYAVIRIDAE; REOVIRIDAE; and RHABDOVIRIDAE. Life cycles of these viruses are characterized by ZOONOSES, with birds and lower mammals serving as intermediate hosts. The virus is transmitted to humans by the bite of mosquitoes (CULICIDAE) or TICKS. Clinical manifestations include fever, headache, alterations of mentation, focal neurologic deficits, and COMA. (From Clin Microbiol Rev 1994 Jan;7(1):89-116; Walton, Brain's Diseases of the Nervous System, 10th ed, p321)" []
synonym: "Arbovirus Encephalitides" EXACT []
synonym: "Arthropod-Borne Encephalitides" EXACT []
synonym: "Arthropod Borne Encephalitis" EXACT []
synonym: "Arthropod-Borne Viral Encephalitides" EXACT []
synonym: "Arthropod Borne Viral Encephalitis" EXACT []
synonym: "Mosquito-Borne Encephalitides" EXACT []
synonym: "Mosquito Borne Encephalitis" EXACT []
xref: MESH:D004671
is_a: DOID:646 ! viral encephalitis
is_a: DOID:9002150 ! RNA Virus Infections
is_a: DOID:9007579 ! Arbovirus Infections

[Term]
id: DOID:9008927
name: Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive
synonym: "EBNS" EXACT []
synonym: "EBS4" EXACT []
synonym: "Epidermolysis Bullosa, Nonspecific, Autosomal Recessive" EXACT []
xref: MIM:615028
is_a: DOID:4644 ! epidermolysis bullosa simplex

[Term]
id: DOID:9008928
name: Smear Layer
def: "Adherent debris produced when cutting the enamel or dentin in cavity preparation. It is about 1 micron thick and its composition reflects the underlying dentin, although different quantities and qualities of smear layer can be produced by the various instrumentation techniques. Its function is presumed to be protective, as it lowers dentin permeability. However, it masks the underlying dentin and interferes with attempts to bond dental material to the dentin." [MESH:D016369]
xref: MESH:D016369
is_a: DOID:9007861 ! Dental Deposits

[Term]
id: DOID:9008929
name: Obstetric Paralysis
def: "Paralysis of an infant resulting from injury received at birth. (From Dorland, 27th ed)" [MESH:D010246]
synonym: "Obstetrical Paralyses" EXACT []
synonym: "Obstetrical Paralysis" EXACT []
synonym: "Obstetric Paralyses" EXACT []
xref: EFO:1001385
xref: MESH:D010246
is_a: DOID:9004545 ! Birth Injuries

[Term]
id: DOID:9008931
name: X-Linked Intellectual Developmental Disorder 113
def: "A disease characterized by mild speech delay and learning difficulties in affected males. Caused by hemizygous mutation in the CSTF2 gene on chromosome Xq22." [MIM:301116]
synonym: "XLID113" EXACT []
xref: MIM:301116
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
created_by: tutajm
creation_date: 2024-02-12T10:17:27Z

[Term]
id: DOID:9008932
name: ALAGILLE SYNDROME 2
synonym: "ALGS2" EXACT []
synonym: "NOTCH2-RELATED CONDITION" BROAD []
xref: MIM:610205
is_a: DOID:9245 ! Alagille syndrome
created_by: slaulederkind
creation_date: 2024-02-08T14:41:07Z

[Term]
id: DOID:9008933
name: Kozlowski-Krajewska Syndrome
xref: MESH:C537615
is_a: DOID:1059 ! intellectual disability
is_a: DOID:11193 ! syndactyly
is_a: DOID:1148 ! polydactyly
is_a: DOID:225 ! syndrome
is_a: DOID:421 ! hair disease
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9008934
name: Van der Woude Syndrome 2
synonym: "VWS2" EXACT []
xref: MESH:C536529
xref: MIM:606713
xref: MONDO:0011712
is_a: DOID:0060239 ! Van der Woude syndrome
is_a: DOID:674 ! cleft palate
is_a: DOID:9007653 ! Multiple Abnormalities
is_a: DOID:9296 ! cleft lip

[Term]
id: DOID:9008935
name: Camptodactyly Syndrome Guadalajara Type
is_a: DOID:225 ! syndrome
is_a: DOID:9004795 ! Congenital Hand Deformities
created_by: mtutaj
creation_date: 2020-05-29T14:06:59Z

[Term]
id: DOID:9008936
name: Platelet Receptor for Collagen, Deficiency of
xref: MESH:C565999
xref: RDO:0014485
is_a: DOID:2218 ! blood platelet disease

[Term]
id: DOID:9008937
name: Histiocytic Necrotizing Lymphadenitis
def: "Development of lesions in the lymph node characterized by infiltration of the cortex or paracortex by large collections of proliferating histiocytes and complete or, more often, incomplete necrosis of lymphoid tissue." [MESH:D020042]
synonym: "Histiocytic Necrotising Lymphadenitides" EXACT []
synonym: "Histiocytic Necrotising Lymphadenitis" EXACT []
synonym: "Kikuchi's Disease" EXACT []
synonym: "Kikuchi Disease" EXACT []
synonym: "Kikuchi Fujimoto's Disease" EXACT []
synonym: "Kikuchi Fujimoto Disease" EXACT []
synonym: "Kikuchi-Fujimotos Disease" EXACT []
synonym: "Kikuchi Necrotizing Lymphadenitis" EXACT []
synonym: "Kikuchis Disease" EXACT []
synonym: "Nosocomial Kikuchi's Disease" EXACT []
synonym: "Nosocomial Kikuchi Disease" EXACT []
synonym: "Nosocomial Kikuchis Disease" EXACT []
xref: MESH:D020042
xref: RDO:0007308
is_a: DOID:1602 ! lymphadenitis

[Term]
id: DOID:9008938
name: Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1
synonym: "MRCS1" EXACT []
xref: MIM:619082
is_a: DOID:0050572 ! cone-rod dystrophy
is_a: DOID:10124 ! corneal disease
is_a: DOID:83 ! cataract
created_by: mtutaj
creation_date: 2020-11-04T11:51:19Z

[Term]
id: DOID:9008939
name: Breast Neoplasms
def: "Tumors or cancer of the human BREAST." [MESH:D001943]
synonym: "breast neoplasm" EXACT []
synonym: "breast tumor" EXACT []
synonym: "breast tumors" EXACT []
synonym: "BRIP1-related disorder" NARROW []
synonym: "human mammary neoplasm" EXACT []
synonym: "human mammary neoplasms" EXACT []
xref: EFO:0003869
xref: MESH:D001943
xref: MONDO:0021100
is_a: DOID:3463 ! breast disease
is_a: DOID:9005424 ! Neoplasms by Site

[Term]
id: DOID:9008940
name: Dianzani Autoimmune Lymphoproliferative Syndrome
alt_id: MIM:605233
synonym: "autoimmune lymphoproliferative disease without FAS mutations" EXACT []
synonym: "Autoimmune lymphoproliferative syndrome without FAS mutations" EXACT []
synonym: "Dianzani autoimmune lymphoproliferative disease" EXACT []
synonym: "Dianzani form of autoimmune lymphoproliferative disease" EXACT []
xref: MESH:C535950
is_a: DOID:225 ! syndrome
is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome

[Term]
id: DOID:9008941
name: Muscle Hypertonia
alt_id: OMIA:001592
def: "Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES." [MESH:D009122]
synonym: "Detrusor Muscle Hypertonia" EXACT []
synonym: "Detrusor Muscle Hypertonias" EXACT []
synonym: "EFS" NARROW []
synonym: "episodic falling syndrome" NARROW []
synonym: "Hypermyotonia" EXACT []
synonym: "Hypermyotonias" EXACT []
synonym: "Infantile Hypertonia" EXACT []
synonym: "Infantile Hypertonias" EXACT []
synonym: "Muscle Hypertonias" EXACT []
synonym: "Muscle Tone Increased" EXACT []
synonym: "Muscular Hypertonicities" EXACT []
synonym: "Muscular Hypertonicity" EXACT []
synonym: "Neonatal Hypertonia" EXACT []
synonym: "Neonatal Hypertonias" EXACT []
synonym: "paroxysmal hypertonicity disorder" NARROW []
synonym: "Sphincter Hypertonia" EXACT []
synonym: "Sphincter Hypertonias" EXACT []
synonym: "Transient Hypertonia" EXACT []
synonym: "Transient Hypertonias" EXACT []
xref: MESH:D009122
is_a: DOID:9000165 ! Neuromuscular Manifestations

[Term]
id: DOID:9008942
name: Congenital Adrenal Hypoplasia with Precocious Puberty
synonym: "Adrenal Insufficiency, Progressive, and Hypogonadotropic Hypogonadism" EXACT []
xref: MESH:C564568
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:0050811 ! congenital adrenal hyperplasia
is_a: DOID:9007284 ! Precocious Puberty

[Term]
id: DOID:9008943
name: X-Linked Hypodontia
alt_id: RDO:0002928
xref: MESH:C537148
is_a: DOID:0111664 ! ectodermal dysplasia 1
is_a: DOID:13714 ! anodontia

[Term]
id: DOID:9008944
name: Calcifying Epithelial Odontogenic Tumor
synonym: "Pindborg tumor" EXACT []
xref: MESH:C537961
xref: RDO:0003885
is_a: DOID:9004464 ! Skin Neoplasms
is_a: DOID:9006134 ! Odontogenic Tumors

[Term]
id: DOID:9008945
name: Gram-Negative Bacterial Infections
def: "Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method." [MESH:D016905]
synonym: "Gram-Negative Bacterial Infection" EXACT []
xref: MESH:D016905
xref: MONDO:0021678
is_a: DOID:104 ! bacterial infectious disease

[Term]
id: DOID:9008946
name: Multiple Pterygium Syndrome, X-Linked
alt_id: MIM:312150
synonym: "X-linked lethal multiple pterygium syndrome" EXACT []
xref: GARD:4573
xref: MESH:C564072
xref: MONDO:0010716
xref: ORDO:79447
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9005962 ! Multiple Pterygium Syndrome, Lethal Type
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9008947
name: Posterior Capsular Rupture, Ocular
def: "A breach in the continuity of the posterior chamber of the eyeball." [MESH:D057851]
xref: EFO:1001817
xref: MESH:D057851
xref: RDO:0007798
is_a: DOID:9006447 ! Eye Injuries

[Term]
id: DOID:9008948
name: Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive
xref: MESH:C566615
is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome

[Term]
id: DOID:9008949
name: Hyperproglucagonemia
synonym: "large molecular weight species of glucagon" EXACT []
xref: MESH:C564159
xref: MIM:145270
xref: MONDO:0007773
is_a: DOID:2978 ! carbohydrate metabolic disorder

[Term]
id: DOID:9008951
name: Hernandez Aguirre-Negrete Syndrome
synonym: "Ehlers-Danlos syndrome with progeroid facies and mild mental retardation" EXACT []
synonym: "Hernández Aguirre-Negrete syndrome" EXACT []
xref: MESH:C538112
xref: RDO:0004045
is_a: DOID:13359 ! Ehlers-Danlos syndrome
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9008952
name: Breast Cancer, Familial
synonym: "FAMILIAL CANCER OF BREAST" EXACT []
xref: MESH:C562840
is_a: DOID:1612 ! breast cancer

[Term]
id: DOID:9008953
name: Binge-Eating Disorder
def: "A disorder associated with three or more of the following: eating until feeling uncomfortably full; eating large amounts of food when not physically hungry; eating much more rapidly than normal; eating alone due to embarrassment; feeling of disgust, DEPRESSION, or guilt after overeating. Criteria includes occurrence on average, at least 2 days a week for 6 months. The binge eating is not associated with the regular use of inappropriate compensatory behavior (i.e. purging, excessive exercise, etc.) and does not co-occur exclusively with BULIMIA NERVOSA or ANOREXIA NERVOSA. (From DSM-IV, 1994)" [MESH:D056912]
synonym: "Binge-Eating Disorders" EXACT []
xref: MESH:D056912
xref: NCI:C97162
is_a: DOID:8670 ! eating disorder

[Term]
id: DOID:9008954
name: Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA
alt_id: MIM:560000
xref: MESH:C564014
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:557 ! kidney disease
is_a: DOID:9744 ! type 1 diabetes mellitus

[Term]
id: DOID:9008955
name: Primary Orthostatic Tremor
synonym: "Shaky leg syndrome" EXACT []
xref: MESH:C536418
xref: RDO:0002006
is_a: DOID:9000495 ! Tremor
is_a: DOID:9004211 ! Dizziness

[Term]
id: DOID:9008956
name: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE
def: "A disease characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities." [MIM:618183]
synonym: "DIAR10" EXACT []
synonym: "diarrhea-10" EXACT []
xref: MIM:618183
is_a: DOID:13250 ! diarrhea
created_by: slaulede
creation_date: 2019-01-10T18:24:50Z

[Term]
id: DOID:9008957
name: Urachal Cyst
def: "Cyst occurring in a persistent portion of the urachus, presenting as an extraperitoneal mass in the umbilical region. It is characterized by abdominal pain, and fever if infected. It may rupture, leading to peritonitis, or it may drain through the umbilicus." [MESH:D014496]
synonym: "Umbilical Cyst" EXACT []
synonym: "Umbilical Cysts" EXACT []
synonym: "Urachal Cysts" EXACT []
xref: MESH:D014496
is_a: DOID:9007583 ! Cysts

[Term]
id: DOID:9008958
name: Autosomal Recessive Dyskeratosis Congenita 7
synonym: "DKCB7" EXACT []
is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita
created_by: rgd
creation_date: 2015-11-10T00:00:00Z

[Term]
id: DOID:9008959
name: Liang-Wang Syndrome
synonym: "LIWAS" EXACT []
xref: MIM:618729
is_a: DOID:225 ! syndrome
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: mtutaj
creation_date: 2020-01-13T11:17:46Z

[Term]
id: DOID:9008960
name: Pancreatic Adenoma
xref: MESH:C538110
is_a: DOID:657 ! adenoma
is_a: DOID:9009186 ! Pancreatic Benign Neoplasm

[Term]
id: DOID:9008961
name: Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities
synonym: "NEDMILEG" EXACT []
synonym: "Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities, Autosomal Dominant" EXACT []
xref: MIM:619092
is_a: DOID:10907 ! microcephaly
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005466 ! Language Development Disorders
is_a: DOID:9006230 ! Neurologic Gait Disorders
created_by: mtutaj
creation_date: 2020-11-23T16:12:18Z

[Term]
id: DOID:9008962
name: Pierre Robin Sequence with Facial and Digital Anomalies
alt_id: MIM:311895
xref: MESH:C564078
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9008963
name: Robin Sequence and Oligodactyly
alt_id: MIM:172880
synonym: "Pierre Robin syndrome and oligodactyly" EXACT []
xref: MESH:C535688
is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome

[Term]
id: DOID:9008965
name: Bronchomalacia
alt_id: MIM:211450
def: "A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the BRONCHI. This results in a floppy bronchial wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing." [MESH:D055091]
synonym: "bronchi chondromalacia" EXACT []
synonym: "bronchi chondromalacias" EXACT []
synonym: "bronchomalacias" EXACT []
synonym: "chondromalacia of bronchi" EXACT []
synonym: "Williams-Campbell syndrome" EXACT []
xref: MESH:D055091
xref: MONDO:0008888
xref: ORDO:411501
is_a: DOID:9003700 ! Tracheobronchomalacia

[Term]
id: DOID:9008966
name: Blastocystis Infections
def: "Infections with organisms of the genus BLASTOCYSTIS. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in AIDS patients and other immunosuppressed patients (IMMUNOCOMPROMISED HOST). Symptoms include ABDOMINAL PAIN; DIARRHEA; CONSTIPATION; VOMITING; and FATIGUE." [MESH:D016776]
synonym: "Blastocystis Infection" EXACT []
synonym: "blastocystosis" EXACT []
xref: EFO:0007173
xref: MESH:D016776
xref: RDO:0006996
is_a: DOID:9002892 ! Parasitic Intestinal Diseases

[Term]
id: DOID:9008967
name: Brain Concussion
def: "A nonspecific term used to describe transient alterations or loss of consciousness following closed head injuries. The duration of UNCONSCIOUSNESS generally lasts a few seconds, but may persist for several hours. Concussions may be classified as mild, intermediate, and severe. Prolonged periods of unconsciousness (often defined as greater than 6 hours in duration) may be referred to as post-traumatic coma (COMA, POST-HEAD INJURY). (From Rowland, Merritt's Textbook of Neurology, 9th ed, p418)" [MESH:D001924]
synonym: "Brain Concussions" EXACT []
synonym: "Cerebral Concussion" EXACT []
synonym: "Cerebral Concussions" EXACT []
synonym: "Commotio Cerebri" EXACT []
synonym: "Intermediate Concussion" EXACT []
synonym: "Intermediate Concussions" EXACT []
synonym: "Mild Concussion" EXACT []
synonym: "Mild Concussions" EXACT []
synonym: "Mild Traumatic Brain Injury" EXACT []
synonym: "Severe Concussion" EXACT []
synonym: "Severe Concussions" EXACT []
xref: EFO:0011023
xref: MESH:D001924
xref: RDO:0005052
is_a: DOID:0081292 ! traumatic brain injury
is_a: DOID:9006008 ! Closed Head Injuries

[Term]
id: DOID:9008968
name: Thanatophoric Dysplasia, Type I
alt_id: MIM:187600
alt_id: RDO:0015077
synonym: "Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type" EXACT []
synonym: "Platyspondylic Lethal Skeletal Dysplasia, San Diego Type" EXACT []
synonym: "TD" EXACT []
synonym: "TD1" EXACT []
xref: MESH:C566844
is_a: DOID:13481 ! thanatophoric dysplasia

[Term]
id: DOID:9008969
name: Dandy Walker Variant
xref: MESH:C535772
xref: RDO:0001073
is_a: DOID:2785 ! Dandy-Walker syndrome

[Term]
id: DOID:9008971
name: Inability to Smell Musk
alt_id: MIM:254150
xref: MESH:C564980
is_a: DOID:9004042 ! Olfaction Disorders

[Term]
id: DOID:9008972
name: Hyperammonemia
def: "Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA." [MESH:D022124]
synonym: "HYPERAMMONAEMIA" RELATED []
synonym: "HYPERAMMONEMIA, TYPE III" NARROW []
xref: MESH:D022124
is_a: DOID:9004611 ! Pathologic Processes

[Term]
id: DOID:9008973
name: Familial Persistent Stuttering 4
synonym: "STUT4" EXACT []
xref: MIM:614668
is_a: DOID:0060243 ! stuttering

[Term]
id: DOID:9008974
name: Menke-Hennekam Syndrome 1
synonym: "CREBBP-RELATED CONDITION" BROAD []
synonym: "MKHK1" EXACT []
xref: EFO:0010252
xref: MIM:618332
is_a: DOID:9008706 ! Menke-Hennekam Syndrome
created_by: mtutaj
creation_date: 2019-02-25T12:19:33Z

[Term]
id: DOID:9008975
name: Gastrointestinal Hemorrhage
def: "Bleeding in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." [MESH:D006471]
synonym: "gastrointestinal hemorrhages" EXACT []
synonym: "hematochezia" EXACT []
synonym: "hematochezias" EXACT []
xref: HP:0002239
xref: MESH:D006471
is_a: DOID:77 ! gastrointestinal system disease
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9008976
name: Bovine Trypanosomiasis
def: "Infection in cattle caused by various species of trypanosomes." [MESH:D014354]
synonym: "Bovine Trypanosomiases" EXACT []
xref: MESH:D014354
xref: MONDO:0025271
is_a: DOID:10113 ! trypanosomiasis
is_a: DOID:9004157 ! Protozoan Infections, Animal
is_a: DOID:9004723 ! Cattle Diseases

[Term]
id: DOID:9008977
name: Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
alt_id: MIM:603589
xref: MESH:C567039
is_a: DOID:0050591 ! tooth agenesis
is_a: DOID:182 ! calcinosis
is_a: DOID:9001487 ! Facies

[Term]
id: DOID:9008978
name: Trichoodontoonychial Dysplasia
xref: MESH:C564760
is_a: DOID:0080006 ! bone development disease
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:4123 ! nail disease
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:693 ! dental enamel hypoplasia

[Term]
id: DOID:9008979
name: Rett Syndrome, Congenital Variant
synonym: "FOXG1 DISORDER" EXACT []
synonym: "FOXG1-RELATED CONDITION" EXACT []
xref: MIM:613454
xref: NCI:C176903
is_a: DOID:1206 ! Rett syndrome

[Term]
id: DOID:9008980
name: Subcutaneous Panniculitis-like T-Cell Lymphoma
alt_id: MIM:618398
alt_id: RDO:0003353
def: "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is an uncommon form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules. Both children and adults can be affected, with a median age at diagnosis of 36 years and a female gender bias. Most patients have accompanying systemic features such as fever or flank pain. A subset (about 20%) of patients develop hemophagocytic lymphohistiocytosis (HLH), usually associated with CD8+ T cells rimming adipocytes in the bone marrow. An infectious agent is not identified, and the disorder is believed to result from improperly activated inflammation. Immunosuppressive therapy may be helpful; hematopoietic bone marrow transplantation is usually curative. SPTCL is conferred by homozygous or compound heterozygous mutation in the HAVCR2 gene on chromosome 5q33. (OMIM)" []
synonym: "SPTCL" EXACT []
xref: EFO:1000552
xref: MESH:C537503
is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma
is_a: DOID:1526 ! panniculitis

[Term]
id: DOID:9008981
name: Hyperlexia
alt_id: MIM:238350
synonym: "Compulsive Reading" EXACT []
synonym: "Precocious Reading" EXACT []
xref: MESH:C565500
is_a: DOID:93 ! language disorder

[Term]
id: DOID:9008982
name: Welander Distal Myopathy, Swedish Type
alt_id: MIM:604454
synonym: "Distal myopathy, Swedish" EXACT []
synonym: "Distal myopathy, Swedish type" EXACT []
synonym: "MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT" EXACT []
synonym: "WDM" EXACT []
synonym: "WELANDER DISTAL MYOPATHY" EXACT []
xref: MESH:C536690
is_a: DOID:11720 ! distal myopathy

[Term]
id: DOID:9008983
name: Keratosis Palmaris et Plantaris with Clinodactyly
alt_id: MIM:148520
xref: MESH:C563646
is_a: DOID:3390 ! palmoplantar keratosis

[Term]
id: DOID:9008985
name: Chromosome Inversion
def: "An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome." [MESH:D007446]
synonym: "Chromosomal Inversion" EXACT []
synonym: "Chromosomal Inversions" EXACT []
synonym: "Chromosome Inversions" EXACT []
xref: MESH:D007446
xref: RDO:0005905
is_a: DOID:9004814 ! Chromosome Aberrations

[Term]
id: DOID:9008986
name: Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts
alt_id: MIM:259410
xref: MESH:C537558
is_a: DOID:10907 ! microcephaly
is_a: DOID:12347 ! osteogenesis imperfecta
is_a: DOID:83 ! cataract

[Term]
id: DOID:9008987
name: Biliary Fistula
def: "Abnormal passage in any organ of the biliary tract or between biliary organs and other organs." [MESH:D001658]
synonym: "Biliary Fistulas" EXACT []
xref: MESH:D001658
is_a: DOID:9008038 ! Digestive System Fistula

[Term]
id: DOID:9008988
name: Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1
synonym: "IHPRF" EXACT []
synonym: "IHPRF1" EXACT []
synonym: "Infantile neuroaxonal neurodegeneration with facial dysmorphism" EXACT []
synonym: "NALCN-RELATED CONDITION" BROAD []
synonym: "NALCN-RELATED DISORDERS" BROAD []
xref: MIM:615419
is_a: DOID:9006603 ! Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies

[Term]
id: DOID:9008989
name: Familial Letterer-Siwe Disease
alt_id: MIM:246400
alt_id: RDO:0004557
synonym: "Histiocytosis X, acute disseminated" EXACT []
xref: MESH:C538636
is_a: DOID:2571 ! Langerhans-cell histiocytosis

[Term]
id: DOID:9008990
name: Cerebrooculonasal Syndrome
alt_id: MIM:605627
xref: MESH:C565313
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9002049 ! Anophthalmia
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9008991
name: IMMUNODEFICIENCY 15
def: "Autosomal recessive or dominant syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." []
is_a: DOID:612 ! primary immunodeficiency disease
created_by: slaulede
creation_date: 2020-01-09T17:50:01Z

[Term]
id: DOID:9008992
name: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
synonym: "ECTDS" EXACT []
xref: MIM:616029
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9008993
name: Myotonia
alt_id: OMIA:000698
def: "Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS." [MESH:D009222]
synonym: "Myotonias" EXACT []
synonym: "Myotonic Phenomenon" EXACT []
synonym: "Myotonic Phenomenons" EXACT []
synonym: "Percussion Myotonia" EXACT []
synonym: "Percussion Myotonias" EXACT []
xref: MESH:D009222
is_a: DOID:9000165 ! Neuromuscular Manifestations

[Term]
id: DOID:9008994
name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY
def: "This disease is an autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development." [MIM:620027]
synonym: "NEDMISS" EXACT []
xref: MIM:620027
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2023-07-18T13:32:04Z

[Term]
id: DOID:9008995
name: Posterior Column Ataxia
alt_id: MIM:176250
synonym: "Biemond ataxia" EXACT []
xref: MESH:C536342
is_a: DOID:0050155 ! sensory system disease
is_a: DOID:9277 ! primary cerebellar degeneration

[Term]
id: DOID:9008996
name: Heme Oxygenase 1 Deficiency
alt_id: MIM:614034
synonym: "HMOX1D" EXACT []
synonym: "HMOX1-RELATED CONDITION" EXACT []
xref: MESH:C564200
is_a: DOID:2351 ! iron metabolism disease
is_a: DOID:583 ! hemolytic anemia
is_a: DOID:9006257 ! Growth Disorders

[Term]
id: DOID:9008997
name: X-Linked Intellectual Developmental Disorder 112
def: "A neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Caused by hemizygous or heterozygous mutation in the ZMYM3 gene on chromosome Xq13." [MIM:301111]
synonym: "XLID112" EXACT []
synonym: "ZMYM3-RELATED CONDITION" EXACT []
xref: MIM:301111
is_a: DOID:0060309 ! syndromic X-linked intellectual disability
created_by: mtutaj
creation_date: 2023-07-25T09:51:00Z

[Term]
id: DOID:9008998
name: Formaldehyde Poisoning
synonym: "Formaldehyde Exposure" EXACT []
synonym: "Formaldehyde Toxicity" EXACT []
synonym: "Formalin Intoxication" EXACT []
synonym: "Formalin Toxicity" EXACT []
xref: MESH:C537268
xref: RDO:0003074
is_a: DOID:0060496 ! respiratory allergy

[Term]
id: DOID:9008999
name: Hereditary Pancreatitis
synonym: "Autosomal Dominant Hereditary Pancreatitis" EXACT []
synonym: "Familial Pancreatitis" EXACT []
synonym: "Hereditary Chronic Pancreatitis" EXACT []
synonym: "HP" EXACT []
synonym: "HPC" EXACT []
synonym: "PANCREATITIS, CALCIFIC" NARROW []
synonym: "PANCREATITIS, CHRONIC  PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO" NARROW []
synonym: "PANCREATITIS, CHRONIC, PROTECTION AGAINST" NARROW []
synonym: "PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO" RELATED []
synonym: "PCTT" EXACT []
xref: GARD:6632
xref: MESH:C537262
xref: MIM:167800
xref: MONDO:0008185
xref: OMIA:001403
xref: ORDO:676
is_a: DOID:9006190 ! Chronic Pancreatitis

[Term]
id: DOID:9009000
name: Zonular Cataract and Nystagmus
synonym: "Nystagmus with congenital zonular cataract" EXACT []
xref: MESH:C536727
xref: RDO:0002390
is_a: DOID:83 ! cataract
is_a: DOID:9650 ! pathologic nystagmus

[Term]
id: DOID:9009001
name: Kaplan Plauchu Fitch Syndrome
alt_id: MIM:201050
synonym: "Acrocraniofacial dysostosis" EXACT []
xref: MESH:C536892
is_a: DOID:225 ! syndrome
is_a: DOID:2339 ! Crouzon syndrome
is_a: DOID:9006294 ! Congenital Limb Deformities

[Term]
id: DOID:9009002
name: Thompson Baraitser Syndrome
xref: MESH:C536515
is_a: DOID:0002116 ! pterygium
is_a: DOID:11162 ! respiratory failure
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9009003
name: Erythropoietic Protoporphyria 2
def: "An autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). (OMIM)" []
synonym: "AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA" BROAD []
synonym: "EPP2" EXACT []
xref: MIM:618015
is_a: DOID:13270 ! erythropoietic protoporphyria
created_by: slaulede
creation_date: 2019-01-16T16:52:35Z

[Term]
id: DOID:9009004
name: Cree Mental Retardation Syndrome
alt_id: MIM:606851
xref: MESH:C564654
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9009005
name: Familial Thoracic Aortic Aneurysm 2
alt_id: MIM:607087
synonym: "AAT2" EXACT []
synonym: "FAA2" EXACT []
xref: MESH:C564627
is_a: DOID:14004 ! thoracic aortic aneurysm

[Term]
id: DOID:9009006
name: Mesomelic Dysplasia
def: "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)." []
synonym: "mesomelic dwarf" EXACT []
synonym: "mesomelic dwarfism" EXACT []
synonym: "mesomelic dysplasias" EXACT []
xref: MONDO:0023599
is_a: DOID:2256 ! osteochondrodysplasia
created_by: tutajm
creation_date: 2024-07-08T16:15:45Z

[Term]
id: DOID:9009007
name: Tooth Abnormalities
alt_id: RDO:0000709
def: "Congenital absence of or defects in structures of the teeth." [MESH:D014071]
synonym: "Odontome" EXACT []
synonym: "Odontomes" EXACT []
synonym: "Teeth Abnormalities" EXACT []
synonym: "teeth abnormality" EXACT []
synonym: "tooth abnormality" EXACT []
xref: MESH:D014071
is_a: DOID:1091 ! tooth disease
is_a: DOID:9006733 ! Stomatognathic System Abnormalities

[Term]
id: DOID:9009008
name: Temporomandibular Joint Dysfunction Syndrome
def: "A symptom complex consisting of pain, muscle tenderness, clicking in the joint, and limitation or alteration of mandibular movement. The symptoms are subjective and manifested primarily in the masticatory muscles rather than the temporomandibular joint itself. Etiologic factors are uncertain but include occlusal dysharmony and psychophysiologic factors." [MESH:D013706]
synonym: "Costen's Syndrome" EXACT []
synonym: "Costens Syndrome" EXACT []
synonym: "Costen Syndrome" EXACT []
synonym: "Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint" EXACT []
synonym: "Temporomandibular Joint Syndrome" EXACT []
synonym: "TMJ Syndrome" EXACT []
xref: MESH:D013706
xref: RDO:0006677
is_a: DOID:225 ! syndrome
is_a: DOID:431 ! myofascial pain syndrome
is_a: DOID:9006281 ! Temporomandibular Joint Disorders

[Term]
id: DOID:9009009
name: Posterior Exchondrosis of Pinna
alt_id: MIM:133500
synonym: "Ear Bump" EXACT []
xref: MESH:C565036
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9009010
name: Progressive Bifocal Chorioretinal Atrophy
alt_id: MIM:600790
synonym: "CRAPB" EXACT []
synonym: "PBCRA" EXACT []
xref: MESH:C535356
is_a: DOID:2566 ! corneal dystrophy

[Term]
id: DOID:9009011
name: Cavitary Optic Disc Anomalies
alt_id: MIM:611543
synonym: "CODA" EXACT []
xref: MESH:C566924
xref: RDO:0015134
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9009012
name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY
def: "An autosomal recessive disorder with highly variable manifestations and severity of these core features. The most severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion or planned termination." [MIM:619072]
synonym: "NEDSEBA" EXACT []
xref: MIM:619072
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9004462 ! Atrophy
created_by: slaulede
creation_date: 2021-01-18T15:38:58Z

[Term]
id: DOID:9009013
name: Hyperkeratosis Lenticularis Perstans
alt_id: MIM:144150
synonym: "Flegel's disease" EXACT []
synonym: "Flegel disease" EXACT []
synonym: "HLP" EXACT []
synonym: "Hyperkeratosis lenticularis perstans of Flegel" EXACT []
xref: MESH:C538377
xref: RDO:0004353
is_a: DOID:161 ! keratosis

[Term]
id: DOID:9009014
name: Retinal Dystrophy and Obesity
synonym: "RDOB" EXACT []
synonym: "TUB-RELATED CONDITION" EXACT []
xref: MIM:616188
is_a: DOID:8501 ! fundus dystrophy
is_a: DOID:9970 ! obesity

[Term]
id: DOID:9009015
name: Familial Myoclonus 1
synonym: "familial cortical myoclonus" EXACT []
synonym: "FCM" EXACT []
synonym: "MYOCL1" EXACT []
xref: MIM:614937
is_a: DOID:9007722 ! Myoclonus

[Term]
id: DOID:9009016
name: Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect
xref: MESH:C565517
xref: MIM:235750
xref: MONDO:0009343
is_a: DOID:10487 ! Hirschsprung's disease
is_a: DOID:1148 ! polydactyly
is_a: DOID:1657 ! ventricular septal defect

[Term]
id: DOID:9009017
name: Amyotrophic Lateral Sclerosis, Autosomal Recessive
synonym: "AMYOTROPHIC LATERAL SCLEROSIS, RECESSIVE" EXACT []
xref: MESH:C566290
is_a: DOID:332 ! amyotrophic lateral sclerosis

[Term]
id: DOID:9009020
name: Anencephaly 1
def: "Characterized by the absence of cranial vault and brain tissues in the fetus. Caused by homozygous mutation in the TRIM36 gene on chromosome 5q22. (OMIM)" []
synonym: "ANPH1" EXACT []
xref: MIM:206500
is_a: DOID:0060668 ! anencephaly
created_by: mtutaj
creation_date: 2021-07-27T14:18:20Z

[Term]
id: DOID:9009021
name: Plagiocephaly
def: "The condition characterized by uneven or irregular shape of the head often in parallelogram shape with a flat spot on the back or one side of the head. It can either result from the premature CRANIAL SUTURE closure (CRANIOSYNOSTOSIS) or from external forces (NONSYNOSTOTIC PLAGIOCEPHALY)." [MESH:D059041]
synonym: "Plagiocephalies" EXACT []
xref: MESH:D059041
xref: RDO:0005292
is_a: DOID:9008731 ! Craniofacial Abnormalities

[Term]
id: DOID:9009022
name: Vogt Cephalodactyly
xref: MESH:C566327
xref: RDO:0014712
is_a: DOID:12960 ! acrocephalosyndactylia

[Term]
id: DOID:9009023
name: Aortic Remodeling
def: "The active alterations of aortic wall structure." []
is_a: DOID:9004771 ! Vascular Remodeling
created_by: rgd
creation_date: 2016-06-03T00:00:00Z

[Term]
id: DOID:9009024
name: Primary Angiitis of the Central Nervous System
def: "A rare, idiopathic form of central nervous system vasculitis that may result in stenosis, blockage, and destruction of blood vessels resulting in aneurysms, ischemia, or hemmorrhage. (MESH)" []
synonym: "PACNS" EXACT []
xref: MESH:C535276
is_a: DOID:525 ! central nervous system vasculitis

[Term]
id: DOID:9009025
name: Renal Phosphate Wasting Disorders
def: "Increased urinary phosphate excretion that can result in hypophosphatemia and depletion of total body phosphorus stores. This can lead to abnormal skeletal growth and deformities." []
synonym: "renal phosphate wasting" EXACT []
xref: RDO:9000050
is_a: DOID:2485 ! phosphorus metabolism disease

[Term]
id: DOID:9009027
name: Lymphoproliferative Syndrome 3
alt_id: MIM:618261
synonym: "CD70 deficiency" EXACT []
synonym: "LPFS3" EXACT []
xref: NCI:C168591
is_a: DOID:0060704 ! lymphoproliferative syndrome

[Term]
id: DOID:9009028
name: Ecchymosis
def: "Extravasation of blood into the skin, resulting in a nonelevated, rounded or irregular, blue or purplish patch, larger than a petechia." [MESH:D004438]
synonym: "Ecchymoses" EXACT []
xref: MESH:D004438
is_a: DOID:1247 ! blood coagulation disease
is_a: DOID:9007472 ! Skin Manifestations
is_a: DOID:9008217 ! Hemorrhage

[Term]
id: DOID:9009030
name: Intestinal Lipophagic Granulomatosis
synonym: "Secondary Non-tropical Sprue" EXACT []
xref: MESH:C531849
xref: RDO:0000241
is_a: DOID:8476 ! Whipple disease

[Term]
id: DOID:9009031
name: Porphyria Cutanea Tarda, Type I
alt_id: MIM:176090
alt_id: RDO:0015025
synonym: "PCT, sporadic type" EXACT []
synonym: "PCT, type I" EXACT []
xref: MESH:C566768
is_a: DOID:3132 ! porphyria cutanea tarda

[Term]
id: DOID:9009032
name: Hairy Nose Tip
alt_id: MIM:139630
xref: MESH:C535619
is_a: DOID:420 ! hypertrichosis

[Term]
id: DOID:9009034
name: Oroantral Fistula
def: "A fistula between the maxillary sinus and the oral cavity." [MESH:D009957]
synonym: "Oroantral Fistulas" EXACT []
xref: MESH:D009957
is_a: DOID:9008436 ! Oral Fistula

[Term]
id: DOID:9009035
name: Mexican Cardiomelic Dysplasia
alt_id: MIM:249670
synonym: "Mesoaxial Hexadactyly and Cardiac Malformation" EXACT []
xref: MESH:C563087
is_a: DOID:1148 ! polydactyly
is_a: DOID:1682 ! congenital heart disease

[Term]
id: DOID:9009036
name: Globulin Anomaly involving Beta (2A)-Globulin
alt_id: MIM:137900
xref: MESH:C564229
is_a: DOID:1247 ! blood coagulation disease

[Term]
id: DOID:9009037
name: Candidiasis, Familial, 4
alt_id: MIM:613108
alt_id: RDO:0003907
synonym: "CANDF4" EXACT []
synonym: "Candidiasis, Familial, Type 4" EXACT []
synonym: "Familial chronic mucocutaneous candidiasis" EXACT []
xref: MESH:C537979
is_a: DOID:2058 ! chronic mucocutaneous candidiasis

[Term]
id: DOID:9009038
name: Nevus Comedonicus
def: "A rare type of epidermal nevus with predilection for the face and neck area. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers. (OMIM)" []
synonym: "NC" EXACT []
xref: MIM:617025
is_a: DOID:0111162 ! epidermal nevus
is_a: DOID:9002969 ! Nevus

[Term]
id: DOID:9009039
name: Hyperemia
def: "The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous)." [MESH:D006940]
synonym: "Active Hyperemia" EXACT []
synonym: "Arterial Hyperemia" EXACT []
synonym: "Hyperemias" EXACT []
synonym: "Passive Hyperemia" EXACT []
synonym: "Reactive Hyperemia" EXACT []
synonym: "Reactive Hyperemias" EXACT []
synonym: "Venous Congestion" EXACT []
synonym: "Venous Engorgement" EXACT []
xref: EFO:0003822
xref: MESH:D006940
is_a: DOID:178 ! vascular disease

[Term]
id: DOID:9009040
name: Woods Leversha Rogers Syndrome
alt_id: MIM:600546
synonym: "intrauterine growth retardation with increased mitomycin C sensitivity" EXACT []
synonym: "severe intrauterine growth retardation with increased mitomycin C sensitivity" EXACT []
xref: MESH:C536744
is_a: DOID:225 ! syndrome
is_a: DOID:9002231 ! Fetal Growth Retardation

[Term]
id: DOID:9009041
name: Temporomandibular Ankylosis
synonym: "Ankylosis of the temporomandibular joint (TMJ)" EXACT []
xref: MESH:C536957
is_a: DOID:227 ! ankylosis
is_a: DOID:9006281 ! Temporomandibular Joint Disorders

[Term]
id: DOID:9009042
name: Familial Leg Ulcers of Juvenile Onset
alt_id: MIM:150590
xref: MESH:C563632
is_a: DOID:9001347 ! Leg Ulcer

[Term]
id: DOID:9009043
name: Cole-Carpenter Syndrome 1
def: "A syndrome characterized by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. (OMIM)" []
synonym: "CLCRP1" EXACT []
xref: MIM:112240
is_a: DOID:0060438 ! Cole-Carpenter syndrome
created_by: rgd
creation_date: 2017-02-28T00:00:00Z

[Term]
id: DOID:9009044
name: Immunodeficiency 109
def: "An autosomal recessive primary immune disorder characterized by onset of recurrent sinopulmonary infections in childhood. Caused by homozygous mutation in the TNFRSF9 gene on chromosome 1p36." [MIM:620282]
synonym: "IMD109" EXACT []
synonym: "immunodeficiency-109 with Epstein-Barr virus (EBV)-induced lymphoproliferation" EXACT []
synonym: "immunodeficiency 109 with lymphoproliferation" EXACT []
xref: MIM:620282
xref: MONDO:0859526
is_a: DOID:612 ! primary immunodeficiency disease
created_by: mtutaj
creation_date: 2023-03-17T09:13:50Z

[Term]
id: DOID:9009045
name: Gardner Syndrome
def: "A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract." [MESH:D005736]
synonym: "Gardner's syndrome" EXACT []
synonym: "Gardner's Syndromes" EXACT []
synonym: "Gardners Syndrome" EXACT []
synonym: "Gardner syndromes" EXACT []
synonym: "GS" EXACT []
synonym: "POLYPOSIS, ADENOMATOUS INTESTINAL GARDNER SYNDROME" EXACT []
xref: MESH:D005736
xref: NCI:C6728
is_a: DOID:0050424 ! familial adenomatous polyposis
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9009046
name: Surgical Wound Dehiscence
def: "Pathologic process consisting of a partial or complete disruption of the layers of a surgical wound." [MESH:D013529]
xref: MESH:D013529
xref: RDO:0006650
is_a: DOID:9000790 ! Postoperative Complications

[Term]
id: DOID:9009047
name: Laryngeal Cleft
synonym: "Anterior submucous laryngeal cleft" EXACT []
synonym: "Congenital laryngeal clefts" EXACT []
synonym: "Posterior laryngeal cleft (PLC)" EXACT []
xref: MESH:C537875
xref: RDO:0010075
is_a: DOID:9005835 ! Congenital Abnormalities

[Term]
id: DOID:9009048
name: Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency
xref: MESH:C565977
xref: RDO:0014472
is_a: DOID:11613 ! hyperandrogenism

[Term]
id: DOID:9009049
name: Foot Ulcer
def: "Lesion on the surface of the skin of the foot, usually accompanied by inflammation. The lesion may become infected or necrotic and is frequently associated with diabetes or leprosy." []
synonym: "Foot Ulcers" EXACT []
synonym: "Plantar Ulcer" EXACT []
synonym: "Plantar Ulcers" EXACT []
xref: MESH:D016523
is_a: DOID:9001347 ! Leg Ulcer
is_a: DOID:9007310 ! Foot Diseases

[Term]
id: DOID:9009050
name: Hypocalcemia
def: "Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed)" []
synonym: "Hypocalcemias" EXACT []
xref: MESH:D006996
is_a: DOID:10575 ! calcium metabolism disease
is_a: DOID:9004004 ! Water-Electrolyte Imbalance
created_by: rgd
creation_date: 2018-01-04T11:41:45Z

[Term]
id: DOID:9009051
name: Atrioventricular Septal Defect 2
synonym: "ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2" RELATED []
synonym: "AVSD2" EXACT []
synonym: "CRELD1-RELATED CONDITION" EXACT []
xref: MIM:606217
is_a: DOID:0050651 ! atrioventricular septal defect
created_by: rgd
creation_date: 2018-01-12T15:13:08Z

[Term]
id: DOID:9009052
name: HYPOPLASTIC FEMURS AND PELVIS
def: "This disease is characterized by congenital isolated bilateral hypoplasia of the femoral and pelvic bones." [MIM:619545]
synonym: "HYPOFP" EXACT []
xref: MIM:619545
is_a: DOID:0080006 ! bone development disease
created_by: slaulederkind
creation_date: 2024-08-15T18:16:55Z

[Term]
id: DOID:9009054
name: Colorectal Cancer 10
synonym: "COLORECTAL CANCER, SUSCEPTIBILITY TO, 10" RELATED []
synonym: "COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q" RELATED []
synonym: "CRCS10" EXACT []
xref: MIM:612591
is_a: DOID:9256 ! colorectal cancer
created_by: rgd
creation_date: 2018-01-12T16:51:46Z

[Term]
id: DOID:9009055
name: Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia
def: "An inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. (OMIM)" []
synonym: "CIMAH" EXACT []
synonym: "methylenetetrahydrofolate dehydrogenase 1 deficiency" EXACT []
synonym: "MTHFD1-RELATED CONDITION" BROAD []
xref: MIM:617780
is_a: DOID:0111962 ! combined immunodeficiency
is_a: DOID:13382 ! megaloblastic anemia
is_a: DOID:655 ! inherited metabolic disorder
created_by: rgd
creation_date: 2018-01-12T17:05:58Z

[Term]
id: DOID:9009059
name: OTOFACIAL NEURODEVELOPMENTAL SYNDROME
def: "This disease is an autosomal recessive disorder characterized by global developmental delay, behavioral abnormalities, and variable facial asymmetry with outer and inner ear malformations and hearing impairment." [MIM:620910]
synonym: "OFNS" EXACT []
xref: MIM:620910
is_a: DOID:2742 ! auditory system disease
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: slaulederkind
creation_date: 2024-09-19T10:39:48Z

[Term]
id: DOID:9009060
name: Childhood Absence Epilepsy 1 
synonym: "ECA1" EXACT []
synonym: "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1" RELATED []
xref: MIM:600131
is_a: DOID:1825 ! childhood absence epilepsy
created_by: rgd
creation_date: 2018-01-15T17:14:54Z

[Term]
id: DOID:9009061
name: Childhood Absence Epilepsy 2
synonym: "ECA2" EXACT []
synonym: "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2" RELATED []
synonym: "GABRG2-RELATED DISORDER" BROAD []
is_a: DOID:0111298 ! familial febrile seizures 8
is_a: DOID:1825 ! childhood absence epilepsy
created_by: rgd
creation_date: 2018-01-15T17:21:22Z

[Term]
id: DOID:9009062
name: Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis
synonym: "PEERB" EXACT []
xref: MIM:618331
is_a: DOID:9000884 ! Rhabdomyolysis
is_a: DOID:936 ! brain disease
created_by: mtutaj
creation_date: 2019-02-25T12:12:43Z

[Term]
id: DOID:9009063
name: Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:8931 ! Evans' syndrome
created_by: rgd
creation_date: 2018-01-15T17:54:41Z

[Term]
id: DOID:9009065
name: Optic Atrophy 14
def: "A disease characterized by adult-onset progressive reduction in visual acuity, with visual field defects progressing from the periphery to the center. Caused by heterozygous mutation in the MIEF1 gene on chromosome 22q13." [MIM:620550]
synonym: "OPA14" EXACT []
xref: MIM:620550
is_a: DOID:9005850 ! Hereditary Optic Atrophies
created_by: tutajm
creation_date: 2023-10-30T09:39:48Z

[Term]
id: DOID:9009066
name: Glucocorticoid Deficiency 5
def: "A disease that is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation. (OMIM)" []
synonym: "GCCD5" EXACT []
synonym: "TXNRD2-RELATED CONDITION" EXACT []
xref: MIM:617825
is_a: DOID:0080620 ! familial glucocorticoid deficiency
is_a: DOID:9008622 ! Adrenal Insufficiency
created_by: rgd
creation_date: 2018-01-15T18:36:10Z

[Term]
id: DOID:9009067
name: Glycosylphosphatidylinositol Biosynthesis Defect 15
def: "An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. (OMIM)" []
synonym: "DEVELOPMENTAL DELAY, EPILEPSY, CEREBELLAR ATROPHY, AND OSTEOPENIA" EXACT []
synonym: "GPAA1-RELATED CONDITION" EXACT []
synonym: "GPIBD15" EXACT []
xref: MIM:617810
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency
is_a: DOID:9008514 ! Psychomotor Disorders
created_by: rgd
creation_date: 2018-01-15T18:47:11Z

[Term]
id: DOID:9009070
name: Herpes Simplex Encephalitis 1
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 1" EXACT []
synonym: "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1" EXACT []
synonym: "IIAE1" EXACT []
xref: MIM:610551
is_a: DOID:9003870 ! Herpes Simplex Encephalitis
created_by: rgd
creation_date: 2018-01-16T17:19:18Z

[Term]
id: DOID:9009072
name: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
def: "A multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. (OMIM)" []
synonym: "IMDDHH" EXACT []
synonym: "NFE2L2-RELATED CONDITION" EXACT []
xref: MIM:617744
xref: MONDO:0060591
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: rgd
creation_date: 2018-01-16T18:17:02Z

[Term]
id: DOID:9009073
name: Diaphragmatic Hernia
def: "Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM." []
synonym: "Diaphragmatic Hernias" EXACT []
xref: EFO:0008561
xref: MESH:D006548
is_a: DOID:10481 ! diaphragm disease
is_a: DOID:1283 ! enterocele
created_by: rgd
creation_date: 2018-01-16T18:30:12Z

[Term]
id: DOID:9009076
name: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME
def: "This disease is characterized by premature birth, intrauterine and postnatal growth retardation, and collodion membrane or collodion-like skin at birth with dry skin thereafter. Patients also exhibit bronchopulmonary disease and thrombocytopenia and neutropenia. Affected individuals die within the first year of life." [MIM:620510]
synonym: "XGIP" EXACT []
synonym: "XGIP SYNDROME" EXACT []
xref: MIM:620510
is_a: DOID:0050161 ! lower respiratory tract disease
is_a: DOID:1227 ! neutropenia
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:37 ! skin disease
is_a: DOID:9006257 ! Growth Disorders
created_by: slaulederkind
creation_date: 2023-11-10T10:33:01Z

[Term]
id: DOID:9009077
name: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES
def: "This disease is a severe autosomal recessive disorder characterized by onset of symptoms in infancy. Patients present with respiratory failure and require intubation soon after birth. Patients who survive show severe global developmental delay, refractory myoclonic seizures, hyperkinetic movements with exaggerated startle response, and microcephaly with dysmorphic features." [MIM:620327]
synonym: "NDDRSB" EXACT []
xref: MIM:620327
is_a: DOID:11162 ! respiratory failure
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:1826 ! epilepsy
is_a: DOID:9005154 ! Myoclonic Epilepsies
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2023-06-20T08:57:09Z

[Term]
id: DOID:9009078
name: Progressive Leukodystrophy, Early Childhood-Onset
synonym: "early childhood-onset progressive leukodystrophy" EXACT []
synonym: "PLDECO" EXACT []
xref: MIM:617762
is_a: DOID:10579 ! leukodystrophy
created_by: rgd
creation_date: 2018-01-17T15:45:06Z

[Term]
id: DOID:9009080
name: Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange
xref: MIM:PS210900
is_a: DOID:10907 ! microcephaly
is_a: DOID:225 ! syndrome
is_a: DOID:9006257 ! Growth Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: mtutaj
creation_date: 2021-02-04T11:08:45Z

[Term]
id: DOID:9009081
name: Multiple mitochondrial dysfunctions syndrome 8
def: "An autosomal recessive neuromuscular disorder characterized mainly by childhood onset of progressive muscle weakness and exercise intolerance. Patients have episodic exacerbation, which may be associated with increased serum creatine kinase or lactic acid. Additional more variable features may include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. The disorder results from impaired formation of Fe-S clusters, which are essential cofactors for proper mitochondrial function. MEOAL is caused by homozygous mutation in the FDX2 gene on chromosome 19p13. (OMIM)" []
synonym: "Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy" EXACT []
synonym: "MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY" NARROW []
synonym: "MMDS8" EXACT []
xref: MIM:251900
xref: MONDO:0020714
is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome
is_a: DOID:5723 ! optic atrophy
is_a: DOID:699 ! mitochondrial myopathy
is_a: DOID:9002704 ! Leukoencephalopathies
created_by: gthayman
creation_date: 2019-03-25T00:00:00Z

[Term]
id: DOID:9009082
name: Specific Granule Deficiency 1
synonym: "CEBPE-RELATED CONDITION" BROAD []
synonym: "LACTOFERRIN-DEFICIENT NEUTROPHILS" EXACT []
synonym: "NEUTROPHIL LACTOFERRIN DEFICIENCY" EXACT []
synonym: "SGD1" EXACT []
synonym: "SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT" NARROW []
xref: MIM:245480
is_a: DOID:9000265 ! Specific Granule Deficiency
created_by: mtutaj
creation_date: 2019-03-26T08:38:35Z

[Term]
id: DOID:9009083
name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY
synonym: "NEDCHS" EXACT []
xref: EFO:0010562
xref: MIM:618572
is_a: DOID:0070338 ! cerebellar hypoplasia
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007428 ! Muscle Spasticity
created_by: slaulede
creation_date: 2019-10-10T17:14:54Z

[Term]
id: DOID:9009085
name: Bone Marrow Failure and Diabetes Mellitus Syndrome
def: "An autosomal recessive disorder characterized by the onset of manifestations of bone marrow failure, such as anemia, thrombocytopenia, and dyserythropoiesis, in infancy or early childhood. Caused by homozygous mutation in the DUT gene on chromosome 15q15." [MIM:620044]
synonym: "BMFDMS" EXACT []
xref: MIM:620044
xref: MONDO:0859288
is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes
is_a: DOID:9351 ! diabetes mellitus
created_by: mtutaj
creation_date: 2022-11-14T15:34:23Z

[Term]
id: DOID:9009086
name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
synonym: "MPPH1" EXACT []
xref: MIM:603387
xref: NCI:C202114
is_a: DOID:9002403 ! Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome
created_by: mtutaj
creation_date: 2019-03-21T00:00:00Z

[Term]
id: DOID:9009087
name: Hypoplastic Left Heart Syndrome 1
synonym: "HLHS1" EXACT []
xref: MIM:241550
is_a: DOID:9955 ! hypoplastic left heart syndrome
created_by: mtutaj
creation_date: 2019-03-19T08:36:46Z

[Term]
id: DOID:9009089
name: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly
xref: EFO:0003113
xref: MIM:PS221770
xref: MONDO:0009092
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:2256 ! osteochondrodysplasia
is_a: DOID:811 ! lipodystrophy
created_by: mtutaj
creation_date: 2019-03-21T13:45:56Z

[Term]
id: DOID:9009092
name: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME
def: "This disease is characterized by localized scalp aplasia, dental enamel anomalies, and a relatively mild neurodevelopmental disorder." [OMIM:620789]
synonym: "ACED" EXACT []
xref: OMIM:620789
is_a: DOID:2121 ! ectodermal dysplasia
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulederkind
creation_date: 2024-07-09T10:56:42Z

[Term]
id: DOID:9009093
name: Myopia 26, X-Linked, Female-Limited
def: "A disease characterized by female-limited, early-onset high myopia. The fundus of patients shows a tigroid appearance, and there is a temporal crescent of the optic nerve head. MYP26 is caused by mutation in the ARR3 gene on chromosome Xq13. (OMIM)" []
synonym: "ARR3-RELATED CONDITION" EXACT []
synonym: "MYP26" EXACT []
synonym: "X-linked female-limited myopia 26" EXACT []
xref: MIM:301010
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:11830 ! myopia
created_by: rgd
creation_date: 2018-01-17T18:16:52Z

[Term]
id: DOID:9009094
name: Progressive Familial Heart Block Type I
synonym: "PFHB1" EXACT []
synonym: "PFHBI" EXACT []
synonym: "progressive familial heart block type 1" EXACT []
is_a: DOID:0111073 ! progressive familial heart block
created_by: rgd
creation_date: 2018-01-17T18:23:34Z

[Term]
id: DOID:9009095
name: Neuroblastoma 3
synonym: "ALK-RELATED CONDITION" EXACT []
synonym: "NBLST3" EXACT []
synonym: "NEUROBLASTOMA, SUSCEPTIBILITY TO, 3" RELATED []
xref: MIM:613014
is_a: DOID:769 ! neuroblastoma
created_by: rgd
creation_date: 2018-01-17T18:29:01Z

[Term]
id: DOID:9009096
name: Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter
def: "A neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Brain imaging shows decreased cortical white matter. (OMIM)" []
synonym: "NDAGSCW" EXACT []
xref: MIM:617807
is_a: DOID:9002704 ! Leukoencephalopathies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2018-01-17T18:32:31Z

[Term]
id: DOID:9009098
name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY
synonym: "NDMSCA" EXACT []
xref: EFO:0009644
xref: MIM:617802
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2018-01-17T18:45:30Z

[Term]
id: DOID:9009099
name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE
def: "A neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. (OMIM)" []
synonym: "NEDMIAL" EXACT []
xref: MIM:617804
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:93 ! language disorder
created_by: rgd
creation_date: 2018-01-17T18:47:57Z

[Term]
id: DOID:9009100
name: Renal Hypodysplasia/Aplasia 3
def: "An autosomal dominant disorder characterized by abnormal kidney development beginning in utero. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract. (OMIM)" []
synonym: "GREB1L-RELATED CONDITION" BROAD []
synonym: "RHDA3" EXACT []
xref: EFO:0009137
xref: MIM:617805
is_a: DOID:14766 ! renal agenesis
created_by: rgd
creation_date: 2018-01-18T12:18:57Z

[Term]
id: DOID:9009101
name: Retinitis Pigmentosa 80
synonym: "RETINAL CILIOPATHY DUE TO MUTATION IN THE RETINITIS PIGMENTOSA-1 GENE" EXACT []
synonym: "RP80" EXACT []
xref: MIM:617781
is_a: DOID:10584 ! retinitis pigmentosa
created_by: rgd
creation_date: 2018-01-18T12:26:45Z

[Term]
id: DOID:9009104
name: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY
def: "This disease is an autosomal recessive disorder characterized by impaired intellectual development and childhood-onset optic atrophy or ataxia." [MIM:620784]
synonym: "NEDOA" EXACT []
synonym: "SNF8-ASSOCIATED DISEASE" BROAD []
xref: MIM:620784
is_a: DOID:5723 ! optic atrophy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulederkind
creation_date: 2024-05-24T12:55:25Z

[Term]
id: DOID:9009105
name: HIV Encephalitis
synonym: "HIVE" EXACT []
synonym: "HIV-encephalitis" EXACT []
is_a: DOID:526 ! human immunodeficiency virus infectious disease
is_a: DOID:646 ! viral encephalitis
created_by: rgd
creation_date: 2018-02-06T12:47:20Z

[Term]
id: DOID:9009106
name: Acute Heart Injury
def: "Traumatic, chemical, stress, or inflammation-related damage to the heart." []
synonym: "ACI" EXACT []
synonym: "acute cardiac injury" EXACT []
is_a: DOID:114 ! heart disease
is_a: DOID:9007588 ! Heart Injuries
created_by: rgd
creation_date: 2018-02-06T13:04:16Z

[Term]
id: DOID:9009107
name: Drug-Induced Enteropathy
def: "Injury of the small intestine caused by any of a variety of drugs involving lesions that may contribute to ulceration." []
synonym: "Drug-induced gastrointestinal disturbance" RELATED []
synonym: "Medication-Induced Enteropathy" EXACT []
is_a: DOID:5295 ! intestinal disease
is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions
created_by: rgd
creation_date: 2018-02-06T15:37:02Z

[Term]
id: DOID:9009110
name: Congenital Amegakaryocytic Thrombocytopenia 2
def: "An autosomal recessive disorder characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure. Caused by homozygous mutation in the THPO gene on chromosome 3q27." [MIM:620481]
synonym: "CAMT2" EXACT []
xref: MIM:620481
is_a: DOID:0090118 ! congenital amegakaryocytic thrombocytopenia
created_by: mtutaj
creation_date: 2023-09-01T10:00:55Z

[Term]
id: DOID:9009111
name: Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:936 ! brain disease
created_by: mtutaj
creation_date: 2021-02-03T10:17:37Z

[Term]
id: DOID:9009112
name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5
synonym: "PFBMFT5" EXACT []
synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5" EXACT []
xref: EFO:0010664
xref: MIM:618674
is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related
created_by: mtutaj
creation_date: 2019-12-02T11:26:55Z

[Term]
id: DOID:9009113
name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES
def: "This disease is an autosomal recessive disorder characterized by poor overall growth apparent from infancy, global developmental delay with motor delay, and severely impaired intellectual development with poor or absent speech. Additional features include feeding difficulties, dysmorphic facies, variable congenital heart defects, and brain imaging abnormalities." [MIM:620852]
synonym: "NEDHFDB" EXACT []
xref: MIM:620852
is_a: DOID:9001487 ! Facies
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9006534 ! Nervous System Malformations
created_by: slaulederkind
creation_date: 2024-07-11T16:46:26Z

[Term]
id: DOID:9009115
name: Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive
def: "An autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. (OMIM)" []
synonym: "autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures" EXACT []
synonym: "NDHMSR" EXACT []
synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE" NARROW []
xref: MIM:617820
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2018-02-07T16:21:10Z

[Term]
id: DOID:9009116
name: Urinary Bladder Neoplasm
def: "Tumors of the urinary bladder" []
synonym: "Bladder Neoplasm" EXACT []
synonym: "Bladder Neoplasms" EXACT []
synonym: "Bladder Tumor" EXACT []
synonym: "Bladder Tumors" EXACT []
synonym: "Urinary Bladder Neoplasms" EXACT []
xref: EFO:0000294
is_a: DOID:365 ! bladder disease
is_a: DOID:9004643 ! Urologic Neoplasms
created_by: rgd
creation_date: 2018-02-23T11:49:06Z

[Term]
id: DOID:9009117
name: primary pulmonary hypertension 1
synonym: "BMPR2-RELATED CONDITION" BROAD []
synonym: "BMPR2-RELATED DISORDER" BROAD []
synonym: "PAH" EXACT []
synonym: "PHT" EXACT []
synonym: "PPH1" EXACT []
synonym: "PPH1 with HHT" RELATED []
synonym: "Primary Pulmonary Hypertension, 1" EXACT []
synonym: "Primary Pulmonary Hypertension 1, with Hereditary Hemorrhagic Telangiectasia" RELATED []
synonym: "PULMONARY ARTERIAL HYPERTENSION" BROAD []
synonym: "PULMONARY HYPERTENSION, PRIMARY, 1" EXACT []
synonym: "PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED" RELATED []
synonym: "PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED" RELATED []
xref: MIM:178600
xref: NCI:C174219
is_a: DOID:14557 ! primary pulmonary hypertension
created_by: rgd
creation_date: 2018-03-12T13:02:21Z

[Term]
id: DOID:9009118
name: Ovarian Dysgenesis 11
def: "A disease characterized by primary amenorrhea and delayed puberty, with absent ovaries on pelvic ultrasound. Caused by homozygous or compound heterozygous mutation in the HROB gene on chromosome 17q21." [MIM:620897]
synonym: "ODG11" EXACT []
xref: MIM:620897
is_a: DOID:14450 ! 46 XX gonadal dysgenesis
created_by: tutajm
creation_date: 2024-07-30T10:57:57Z

[Term]
id: DOID:9009119
name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5
def: "This disease is a rare amyloidosis that can affect the viscera, with severe involvement when located in the kidneys and liver. Renal dysfunction of varying severity may be the predominant manifestation. Massive hepatic hemorrhage constitutes the other severe visceral involvement. Dermatologic manifestations are rare." [OMIM:620658]
synonym: "AMYLD5" EXACT []
synonym: "hereditary systemic amyloidosis 5" EXACT []
xref: OMIM:620658
is_a: DOID:0050636 ! familial visceral amyloidosis
created_by: slaulederkind
creation_date: 2024-07-09T10:49:43Z

[Term]
id: DOID:9009121
name: lung metastasis
def: "Transfer of a neoplasm from its primary site to the lung. Because a lung metastasis develops from some underlying cancer elsewhere in the body, it is called a “secondary” malignancy" [https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=22&contentid=lungmetastasis, ISBN-13:978-1455756438]
xref: PMID:26265454
is_a: DOID:1324 ! lung cancer
is_a: DOID:9000965 ! Neoplasm Metastasis
created_by: slaulede
creation_date: 2021-04-16T14:39:10Z

[Term]
id: DOID:9009123
name: Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features
def: "A neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor." [MIM:617865]
synonym: "NEDMAGA" EXACT []
synonym: "ZSWIM6-RELATED CONDITION" BROAD []
synonym: "ZSWIM6 RELATED INTELLECTUAL DISABILITY" NARROW []
xref: MIM:617865
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2018-03-14T17:49:27Z

[Term]
id: DOID:9009124
name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES
def: "An autosomal dominant disorder characterized by global developmental delay apparent from infancy or early childhood, resulting in variable intellectual disability that can range from profound with absent speech to mild with an ability to attend special schools. Most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. (OMIM)" []
synonym: "NEDSGA" EXACT []
xref: MIM:617864
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: rgd
creation_date: 2018-03-14T17:57:15Z

[Term]
id: DOID:9009128
name: PEHO-like syndrome
def: "This disease is a rare, genetic neurological condition characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated." [Orphanet:99807]
synonym: "CCDC88A-RELATED CONDITION" EXACT []
synonym: "PEHOL" EXACT []
synonym: "PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY-LIKE SYNDROME" EXACT []
xref: EFO:Orphanet:99807
xref: MIM:617507
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9005603 ! Muscle Hypotonia
created_by: slaulederkind
creation_date: 2024-08-06T14:39:11Z

[Term]
id: DOID:9009129
name: Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 1
def: "A syndrome featuring short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. (OMIM)" []
synonym: "SSFSC1" EXACT []
xref: MIM:617877
is_a: DOID:9004675 ! Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies
created_by: rgd
creation_date: 2018-03-15T15:56:24Z

[Term]
id: DOID:9009130
name: Immunodeficiency 83
def: "Characterized primarily by increased susceptibility to viral infections. Caused by homozygous, compound heterozygous, or heterozygous mutation in the TLR3 gene on chromosome 4q35. (OMIM)" []
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 2" EXACT []
synonym: "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2" EXACT []
synonym: "IIAE2" EXACT []
synonym: "IMD83" EXACT []
synonym: "Immunodeficiency 83, susceptibility to viral infections" EXACT []
synonym: "PNEUMONITIS, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO" EXACT []
xref: MIM:613002
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9003870 ! Herpes Simplex Encephalitis
created_by: mtutaj
creation_date: 2021-07-16T15:21:19Z

[Term]
id: DOID:9009131
name: Ventriculomegaly
def: "This disease involves dilatation of the ventricles of the brain." []
synonym: "dilated ventricles" EXACT []
synonym: "enlarged cerebral ventricles" EXACT []
synonym: "enlarged ventricles" EXACT []
synonym: "enlarged ventricular system" EXACT []
synonym: "PROGRESSIVE VENTRICULOMEGALY" NARROW []
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2018-03-29T11:05:53Z

[Term]
id: DOID:9009132
name: Glutaric Aciduria
synonym: "glutaric acidemia" EXACT []
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: slaulede
creation_date: 2018-04-09T13:55:38Z

[Term]
id: DOID:9009133
name: ACANTHOCYTOSIS
def: "A condition featuring the presence of a thorny or barbed appearance to red blood cells." []
synonym: "ACANTHOCYTOSIS DUE TO BAND 3 HT" NARROW []
is_a: DOID:74 ! hematopoietic system disease
is_a: DOID:9002760 ! Morphological and Microscopic Findings
created_by: slaulede
creation_date: 2018-04-10T18:05:53Z

[Term]
id: DOID:9009137
name: AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS
def: "This disease is an autosomal recessive complex immunologic disorder with onset of symptoms in infancy or early childhood. Affected individuals have recurrent fever, erythematous skin rashes, vasculitis, oral aphthous lesions, and polyarthritis." [MIM:620880]
synonym: "AIARV" EXACT []
xref: MIM:620880
is_a: DOID:865 ! vasculitis
is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases
created_by: slaulederkind
creation_date: 2024-09-13T10:23:25Z

[Term]
id: DOID:9009138
name: Citrullinemia Type 2
synonym: "Citrullinemia Type II" EXACT []
xref: NCI:C150603
is_a: DOID:9273 ! citrullinemia
created_by: slaulede
creation_date: 2018-04-12T17:42:13Z

[Term]
id: DOID:9009139
name: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome
def: "An adult-onset slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy. CANVAS is caused by a homozygous repeat expansion (AAGGG(n)) in the RFC1 gene (102579) on chromosome 4p14. The reference allele is a simple tandem pentanucleotide AAAAG repeat of 11 (AAAAG(11)), whereas the expansion size ranges from about 400 to 2,000 repeats, with the majority of cases having about 1,000 repeats. (OMIM)" []
synonym: "CANVAS" EXACT []
xref: MIM:614575
xref: NCI:C202046
is_a: DOID:0050753 ! cerebellar ataxia
is_a: DOID:870 ! neuropathy
is_a: DOID:9006473 ! Bilateral Vestibulopathy
created_by: slaulede
creation_date: 2018-04-13T18:23:43Z

[Term]
id: DOID:9009140
name: Congenital Heart Defects, Multiple Types, 5
synonym: "CHTD5" EXACT []
synonym: "GATA5-RELATED CONDITION" EXACT []
synonym: "multiple types of congenital heart defects 5" EXACT []
xref: MIM:617912
is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types
created_by: slaulede
creation_date: 2018-04-16T11:30:54Z

[Term]
id: DOID:9009141
name: Joubert Syndrome 36
synonym: "JBTS36" EXACT []
xref: MIM:618763
is_a: DOID:0050777 ! Joubert syndrome
created_by: mtutaj
creation_date: 2020-02-05T15:38:57Z

[Term]
id: DOID:9009142
name: Diamond-Blackfan Anemia-Like
synonym: "DBAL" EXACT []
xref: MIM:617911
is_a: DOID:1339 ! Diamond-Blackfan anemia
created_by: slaulede
creation_date: 2018-04-17T17:30:14Z

[Term]
id: DOID:9009143
name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC),  8
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8" RELATED []
synonym: "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 6" RELATED []
synonym: "IIAE8" EXACT []
xref: MIM:617900
is_a: DOID:936 ! brain disease
created_by: slaulede
creation_date: 2018-04-17T18:38:55Z

[Term]
id: DOID:9009145
name: Mismatch Repair Cancer Syndrome 3
synonym: "MMRCS3" EXACT []
xref: MIM:619097
is_a: DOID:0112182 ! mismatch repair cancer syndrome
created_by: mtutaj
creation_date: 2020-11-30T11:38:09Z

[Term]
id: DOID:9009146
name: Urogenital Diseases
def: "Pathological processes of the urinary tract and the reproductive system." []
synonym: "disease of genitourinary system" EXACT []
synonym: "disease of the genitourinary system" EXACT []
synonym: "urogenital disease" EXACT []
xref: EFO:0009663
is_a: DOID:7 ! disease of anatomical entity
created_by: slaulede
creation_date: 2018-04-18T14:46:07Z

[Term]
id: DOID:9009147
name: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME
synonym: "HADDTS" EXACT []
xref: MIM:617915
xref: NCI:C192635
is_a: DOID:225 ! syndrome
is_a: DOID:9004866 ! Ataxia
is_a: DOID:9005603 ! Muscle Hypotonia
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9009007 ! Tooth Abnormalities
created_by: slaulede
creation_date: 2018-04-19T16:41:16Z

[Term]
id: DOID:9009148
name: Hypertrophic Cardiomyopathy 29
def: "A disease characterized by recurrent syncope, dyspnea on exertion, and palpitations. Caused by homozygous mutation in the KLHL24 gene on chromosome 3q27." [MIM:620236]
synonym: "CMH29" EXACT []
synonym: "familial hypertrophic cardiomyopathy 29, with polyglucosan bodies" EXACT []
xref: MIM:620236
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy
created_by: mtutaj
creation_date: 2023-02-02T09:38:28Z

[Term]
id: DOID:9009149
name: Primary Autosomal Recessive Microcephaly 20
synonym: "KIF14-RELATED CONDITION" BROAD []
synonym: "MCPH20" EXACT []
xref: MIM:617914
is_a: DOID:0070296 ! primary autosomal recessive microcephaly
created_by: slaulede
creation_date: 2018-04-23T17:05:40Z

[Term]
id: DOID:9009150
name: Spastic paraplegia 30, autosomal dominant
def: "A neurologic disorder characterized by onset of slowly progressive spastic paraplegia in the first or second decades of life. Caused by heterozygous mutation in the KIF1A gene on chromosome 2q37." [MIM:610357]
synonym: "Spastic paraplegia 30A, autosomal dominant" EXACT []
synonym: "SPG30A" EXACT []
xref: MIM:610357
is_a: DOID:0110781 ! hereditary spastic paraplegia 30
created_by: tutajm
creation_date: 2024-07-17T16:50:04Z

[Term]
id: DOID:9009152
name: Neurodegeneration with Brain Iron Accumulation 7
synonym: "NBIA7" EXACT []
xref: MIM:617916
is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation
created_by: slaulede
creation_date: 2018-04-23T18:12:11Z

[Term]
id: DOID:9009153
name: Neurodegeneration with Brain Iron Accumulation 8
synonym: "NBIA8" EXACT []
xref: MIM:617917
is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation
created_by: slaulede
creation_date: 2018-04-23T18:14:15Z

[Term]
id: DOID:9009154
name: Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills
def: "An autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. (OMIM)" []
synonym: "NDPLHS" EXACT []
xref: MIM:617903
is_a: DOID:0050888 ! syndromic intellectual disability
is_a: DOID:225 ! syndrome
created_by: slaulede
creation_date: 2018-04-23T18:17:31Z

[Term]
id: DOID:9009155
name: Shoulder Dystocia
def: "Obstetric complication during OBSTETRIC DELIVERY in which exit of the fetus is delayed due to physical obstruction involving fetal shoulder(s)." [MESH:D000080883]
synonym: "Fetal Shoulder Dystocia" EXACT []
xref: MESH:D000080883
is_a: DOID:9008893 ! Dystocia
created_by: slaulede
creation_date: 2020-02-07T13:13:52Z

[Term]
id: DOID:9009156
name: Lymphatic Malformation 9
def: "An autosomal dominant disorder characterized by the onset of lower-extremity lymphedema in the first decades of life. Caused by heterozygous mutation in the CELSR1 gene on chromosome 22q13. (OMIM)" []
synonym: "CELSR1-RELATED CONDITION" EXACT []
synonym: "LMPHM9" EXACT []
xref: MIM:619319
is_a: DOID:0050580 ! hereditary lymphedema
created_by: mtutaj
creation_date: 2021-05-17T14:12:11Z

[Term]
id: DOID:9009158
name: MHC CLASS II DEFICIENCY 1
def: "A rare autosomal recessive primary immunodeficiency characterized by the loss of expression of MHC class II antigens (HLA-DR, HLA-DQ, and HLA-DP) on antigen-presenting cells (APCs) resulting from mutations in regulatory genes required for proper transcription of the MHC class II genes. Caused by homozygous or compound heterozygous mutation in the CIITA gene on chromosome 16p13." []
synonym: "bare lymphocyte syndrome 2" EXACT []
synonym: "Bare lymphocyte syndrome type 2" EXACT []
synonym: "Bare Lymphocyte Syndrome Type 2, Complementation Group A" EXACT []
synonym: "bare lymphocyte syndrome type II" EXACT []
synonym: "Bare Lymphocyte Syndrome, Type II, Complementation Group A" EXACT []
synonym: "BLSII" EXACT []
synonym: "BLS Type II" EXACT []
synonym: "MHC2D1" EXACT []
synonym: "SCID due to absent class II HLA antigens" EXACT []
synonym: "SCID, HLA class 2-negative" EXACT []
synonym: "SCID, HLA class II-negative" EXACT []
synonym: "severe combined immunodeficiency, HLA class II-negative" EXACT []
xref: MESH:C537079
xref: MESH:C565910
xref: MIM:209920
xref: NCI:C171268
is_a: DOID:5812 ! MHC class II deficiency
created_by: tutajm
creation_date: 2024-08-19T11:54:32Z

[Term]
id: DOID:9009159
name: Audiogenic Epilepsy
def: "A subtype of epilepsy characterized by seizures that are consistently provoked by an auditory stimulus." []
synonym: "AGS" EXACT []
synonym: "audiogenic epilepsies" EXACT []
synonym: "audiogenic reflex epilepsies" EXACT []
synonym: "Audiogenic Reflex Epilepsy" EXACT []
synonym: "Audiogenic Seizure" EXACT []
synonym: "audiogenic seizures" EXACT []
is_a: DOID:2548 ! reflex epilepsy
created_by: slaulede
creation_date: 2019-12-05T16:33:08Z

[Term]
id: DOID:9009160
name: SCHIZOPHRENIA 17
def: "A schizophrenia that has_material_basis_in a mutation of NRXN1 on chromosome 2p16.3." []
synonym: "NRXN1-RELATED CONDITION" BROAD []
synonym: "SCZD17" EXACT []
xref: MIM:614332
is_a: DOID:5419 ! schizophrenia
created_by: slaulede
creation_date: 2018-04-25T14:47:52Z

[Term]
id: DOID:9009161
name: Attention Deficit and Disruptive Behavior Disorders
alt_id: DOID:0050856
def: "Includes two similar disorders: oppositional defiant disorder and CONDUCT DISORDERS. Symptoms occurring in children with these disorders include: defiance of authority figures, angry outbursts, and other antisocial behaviors." []
synonym: "Disruptive Behavior Disorder" EXACT []
xref: MESH:D019958
is_a: DOID:0060038 ! specific developmental disorder
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2018-04-25T18:10:11Z

[Term]
id: DOID:9009162
name: MHC CLASS I DEFICIENCY 3
def: "This disease is an autosomal recessive immunologic disorder characterized by chronic glomerulonephritis and reduced cell surface expression of class I HLA antigens." []
synonym: "MHC1D3" EXACT []
xref: OMIM:620814
is_a: DOID:0060009 ! MHC class I deficiency
created_by: slaulederkind
creation_date: 2024-07-11T16:37:25Z

[Term]
id: DOID:9009163
name: ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
def: "This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy." [MIM:270500]
xref: MIM:270500
is_a: DOID:0050952 ! spastic ataxia
is_a: DOID:1059 ! intellectual disability
is_a: DOID:5723 ! optic atrophy
created_by: slaulede
creation_date: 2018-05-08T11:25:26Z

[Term]
id: DOID:9009164
name: Hereditary Congenital Facial Paresis 1
synonym: "HCFP1" EXACT []
synonym: "MBS2" EXACT []
synonym: "MOBIUS SYNDROME 2" EXACT []
synonym: "MOEBIUS SYNDROME 2" EXACT []
xref: MIM:601471
is_a: DOID:9001799 ! Hereditary Congenital Facial Paresis
created_by: mtutaj
creation_date: 2019-03-27T10:00:19Z

[Term]
id: DOID:9009165
name: Multiple mitochondrial dysfunctions syndrome 9B
def: "A disease characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures. Caused by homozygous or compound heterozygous mutation in the FDXR gene, which encodes ferredoxin reductase, on chromosome 17q25." [MIM:620887]
synonym: "MMDS9B" EXACT []
xref: MIM:620887
is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome
created_by: tutajm
creation_date: 2024-07-17T18:32:30Z

[Term]
id: DOID:9009167
name: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA
def: "An autosomal recessive disorder characterized by severe psychomotor developmental abnormalities and functional iron deficiency." [MIM:618451]
synonym: "NDCAMA" EXACT []
synonym: "NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA" EXACT []
xref: MIM:618451
is_a: DOID:11252 ! microcytic anemia
is_a: DOID:1289 ! neurodegenerative disease
created_by: slaulede
creation_date: 2019-09-16T11:25:38Z

[Term]
id: DOID:9009168
name: Shwachman-Diamond Syndrome 2
def: "A disease characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia. (OMIM)" []
synonym: "SDS2" EXACT []
xref: MIM:617941
xref: MONDO:0044205
is_a: DOID:0080006 ! bone development disease
is_a: DOID:13316 ! exocrine pancreatic insufficiency
is_a: DOID:4961 ! bone marrow disease
created_by: slaulede
creation_date: 2018-06-01T10:52:22Z

[Term]
id: DOID:9009169
name: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA
synonym: "LDAMD" EXACT []
xref: MIM:616763
is_a: DOID:10579 ! leukodystrophy
is_a: DOID:10907 ! microcephaly
created_by: slaulede
creation_date: 2018-06-19T12:54:58Z

[Term]
id: DOID:9009171
name: Primary Autosomal Recessive Microcephaly 21
synonym: "MCPH21" EXACT []
xref: MIM:617983
xref: MONDO:0054804
is_a: DOID:0070296 ! primary autosomal recessive microcephaly
created_by: slaulede
creation_date: 2018-06-19T13:23:01Z

[Term]
id: DOID:9009172
name: Primary Autosomal Recessive Microcephaly 22
synonym: "MCPH22" EXACT []
xref: MIM:617984
is_a: DOID:0070296 ! primary autosomal recessive microcephaly
created_by: slaulede
creation_date: 2018-06-19T13:25:50Z

[Term]
id: DOID:9009173
name: Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures
synonym: "Elhattab-Alkuraya syndrome" EXACT []
synonym: "NEDSBAS" EXACT []
xref: MIM:617977
is_a: DOID:10970 ! spastic quadriplegic cerebral palsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2018-06-19T13:34:22Z

[Term]
id: DOID:9009174
name: MHC CLASS II DEFICIENCY 5
def: "An autosomal recessive disorder characterized by defective cell surface expression of class II HLA molecules on the surface of peripheral blood B cells, monocytes, and activated T cells. Caused by homozygous mutation in the RFX5 gene on chromosome 1q21." [MIM:620818]
synonym: "Bare Lymphocyte Syndrome Type 2, Complementation Group E" EXACT []
synonym: "BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E" EXACT []
synonym: "MHC2D5" EXACT []
xref: MIM:620818
is_a: DOID:5812 ! MHC class II deficiency
created_by: tutajm
creation_date: 2024-08-19T12:03:01Z

[Term]
id: DOID:9009175
name: Visceral Myopathy 2
def: "Characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Caused by heterozygous mutation in the MYH11 gene on chromosome 16p13. (OMIM)" []
synonym: "VSCM2" EXACT []
xref: MIM:619350
is_a: DOID:9002025 ! Familial Visceral Myopathy
created_by: mtutaj
creation_date: 2021-05-28T13:36:33Z

[Term]
id: DOID:9009176
name: VERVERI-BRADY SYNDROME
def: "A disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. (OMIM)" []
synonym: "VERBRAS" EXACT []
xref: MIM:617982
is_a: DOID:1059 ! intellectual disability
is_a: DOID:225 ! syndrome
is_a: DOID:9001487 ! Facies
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2018-06-19T14:12:50Z

[Term]
id: DOID:9009180
name: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED
def: "An X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems." [MIM:301056]
synonym: "LINKage-specific deubiquitylation deficiency-induced Embryonic Defects" EXACT []
synonym: "LINKED SYNDROME" EXACT []
synonym: "MCAND" EXACT []
xref: MIM:301056
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2021-03-15T13:39:06Z

[Term]
id: DOID:9009182
name: Developmental Delay with or without Dysmorphic Facies and Autism
def: "A complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups, with severity being the main difference." [MIM:618454]
synonym: "DEDDFA" EXACT []
synonym: "TRRAP-RELATED CONDITION" BROAD []
synonym: "TRRAP-RELATED DISORDER" BROAD []
synonym: "TRRAP-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
xref: MIM:618454
is_a: DOID:9008086 ! Developmental Disabilities
created_by: slaulede
creation_date: 2019-09-10T17:50:29Z

[Term]
id: DOID:9009184
name: Eosinophilic Myocarditis
def: "Inflammation in the heart muscle that is caused by the infiltration and destructive activity of a type of white blood cell, the eosinophil. (Wikipedia)" []
is_a: DOID:820 ! myocarditis
created_by: slaulede
creation_date: 2018-07-24T18:07:46Z

[Term]
id: DOID:9009185
name: Lymphocytic Myocarditis
is_a: DOID:820 ! myocarditis
created_by: slaulede
creation_date: 2018-07-25T14:14:48Z

[Term]
id: DOID:9009186
name: Pancreatic Benign Neoplasm
def: "A benign neoplasm that is located in the pancreas." []
synonym: "benign neoplasm of pancreas" EXACT []
synonym: "benign tumor of pancreas" EXACT []
is_a: DOID:9003100 ! Pancreatic Neoplasms
created_by: slaulede
creation_date: 2018-07-27T13:08:28Z

[Term]
id: DOID:9009187
name: Aerodigestive Tract Squamous Cell Carcinoma
synonym: "AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL" EXACT []
synonym: "AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED" NARROW []
synonym: "AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST" RELATED []
synonym: "nasopharyngeal squamous cell carcinoma" NARROW []
synonym: "Parotid Gland Squamous Cell Carcinoma" NARROW []
xref: EFO:1000058
xref: EFO:1000463
is_a: DOID:1749 ! squamous cell carcinoma
created_by: slaulede
creation_date: 2018-08-13T13:32:41Z

[Term]
id: DOID:9009188
name: Hypertrophic Cardiomyopathy 27
def: "A severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. (OMIM)" []
synonym: "ALPK3-RELATED CONDITION" EXACT []
synonym: "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27" EXACT []
synonym: "CMH27" EXACT []
synonym: "familial hypertrophic cardiomyopathy 27" EXACT []
xref: MIM:618052
is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy
created_by: slaulede
creation_date: 2018-08-13T15:12:57Z

[Term]
id: DOID:9009189
name: Congenital Hydrocephalus 3, with Brain Anomalies
synonym: "HYC3" EXACT []
synonym: "HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3" EXACT []
xref: MIM:617967
is_a: DOID:10908 ! hydrocephalus
created_by: slaulede
creation_date: 2018-08-13T15:51:02Z

[Term]
id: DOID:9009192
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA
synonym: "IDDECA" EXACT []
xref: MIM:618060
is_a: DOID:1059 ! intellectual disability
created_by: slaulede
creation_date: 2018-08-15T11:44:27Z

[Term]
id: DOID:9009194
name: Autosomal Dominant Intellectual Developmental Disorder 57
synonym: "autosomal dominant mental retardation 57" EXACT []
synonym: "MRD57" EXACT []
synonym: "TLK2-RELATED CONDITION" EXACT []
synonym: "TLK2-RELATED NEURODEVELOPMENTAL DISORDER" EXACT []
xref: MIM:618050
is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder
created_by: slaulede
creation_date: 2018-08-15T12:09:54Z

[Term]
id: DOID:9009196
name: Cerebellar Atrophy with Seizures and Variable Developmental Delay
def: "An autosomal recessive neurologic disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging." [MIM:618501]
synonym: "CASVDD" EXACT []
xref: MIM:618501
is_a: DOID:1826 ! epilepsy
is_a: DOID:9008086 ! Developmental Disabilities
is_a: DOID:9277 ! primary cerebellar degeneration
created_by: slaulede
creation_date: 2019-08-13T15:13:44Z

[Term]
id: DOID:9009197
name: Alternating Hemiplegia of Childhood 1
def: "Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. Alternating hemiplegia of childhood-1 (AHC1) is caused by heterozygous mutation in the ATP1A2 gene on chromosome 1q23. (OMIM)" [MIM:104290]
synonym: "AHC1" EXACT []
xref: MIM:104290
is_a: DOID:0050635 ! alternating hemiplegia of childhood
created_by: mtutaj
creation_date: 2019-03-19T00:00:00Z

[Term]
id: DOID:9009200
name: Postaxial Polydactyly, Type A7
def: "Postaxial polydactyly restricted to the feet, with well-developed nails present on the extra digits and attachment of both the fifth and sixth toes to a broad 2-headed fifth metatarsal. (OMIM)" []
synonym: "PAPA7" EXACT []
xref: MIM:617642
is_a: DOID:9003071 ! Postaxial Polydactyly
created_by: slaulede
creation_date: 2018-08-16T10:10:06Z

[Term]
id: DOID:9009203
name: Gastrointestinal defects and immunodeficiency syndrome
synonym: "GIDID" EXACT []
xref: MIM:PS243150
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:77 ! gastrointestinal system disease
created_by: tutajm
creation_date: 2024-08-23T12:16:25Z

[Term]
id: DOID:9009204
name: SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME
synonym: "SSMS" EXACT []
xref: MIM:616682
is_a: DOID:0060249 ! scoliosis
is_a: DOID:1826 ! epilepsy
is_a: DOID:225 ! syndrome
is_a: DOID:9003816 ! Macrocephaly
created_by: slaulede
creation_date: 2018-08-17T13:45:07Z

[Term]
id: DOID:9009207
name: Alcohol Myopathy
def: "Skeletal muscle dysfunction as a result of alcohol use disorder." [PMID:28988574]
synonym: "Alcoholic myopathic syndrome" EXACT []
synonym: "alcoholic myopathy" EXACT []
synonym: "Alcoholic myositis" EXACT []
is_a: DOID:423 ! myopathy
is_a: DOID:9004354 ! Alcohol-Related Disorders
created_by: slaulede
creation_date: 2018-08-17T17:55:47Z

[Term]
id: DOID:9009213
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
synonym: "FBXO11-RELATED CONDITION" EXACT []
synonym: "IDDFBA" EXACT []
xref: MIM:618089
is_a: DOID:1059 ! intellectual disability
is_a: DOID:150 ! disease of mental health
is_a: DOID:9001487 ! Facies
created_by: slaulede
creation_date: 2018-09-12T15:17:46Z

[Term]
id: DOID:9009214
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES
synonym: "BCL11B-RELATED BAFOPATHY" BROAD []
synonym: "BCL11B-RELATED CONDITION" BROAD []
synonym: "IDDSFTA" EXACT []
xref: MIM:618092
is_a: DOID:1059 ! intellectual disability
is_a: DOID:612 ! primary immunodeficiency disease
is_a: DOID:9001487 ! Facies
is_a: DOID:9005466 ! Language Development Disorders
created_by: slaulede
creation_date: 2018-09-12T15:33:23Z

[Term]
id: DOID:9009217
name: Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2
def: "An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies." [MIM:618097]
synonym: "MGRISCE2" EXACT []
xref: MIM:618097
xref: MONDO:0020628
is_a: DOID:9009080 ! Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange
created_by: slaulede
creation_date: 2018-09-12T15:56:20Z

[Term]
id: DOID:9009218
name: MIRAGE Syndrome
def: "A form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy." [MIM:617053]
synonym: "MIRAGE" EXACT []
synonym: "myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy" EXACT []
xref: MIM:617053
xref: NCI:C147530
is_a: DOID:13774 ! Addison's disease
is_a: DOID:4961 ! bone marrow disease
is_a: DOID:9007653 ! Multiple Abnormalities
created_by: slaulede
creation_date: 2018-09-12T16:23:39Z

[Term]
id: DOID:9009219
name: Diabetic Embryopathy
def: "Pathophysiological condition(s) of the fetus in the uterus, as a result of maternal diabetes." []
is_a: DOID:9001984 ! Fetal Diseases
is_a: DOID:9002661 ! Diabetes Complications
is_a: DOID:9004702 ! Pregnancy Complications
created_by: slaulede
creation_date: 2018-09-12T16:57:42Z

[Term]
id: DOID:9009220
name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES
synonym: "BRAT1-ASSOCIATED NEURODEGENERATIVE DISORDER" NARROW []
synonym: "NEDCAS" EXACT []
xref: MIM:618056
is_a: DOID:1826 ! epilepsy
is_a: DOID:9004429 ! Neurodevelopmental Disorders
is_a: DOID:9277 ! primary cerebellar degeneration
created_by: slaulede
creation_date: 2018-09-13T09:39:53Z

[Term]
id: DOID:9009221
name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
synonym: "NEDEHCC" EXACT []
xref: MIM:618090
is_a: DOID:1826 ! epilepsy
is_a: DOID:9001999 ! Agenesis of Corpus Callosum
is_a: DOID:9004429 ! Neurodevelopmental Disorders
created_by: slaulede
creation_date: 2018-09-13T09:48:48Z

[Term]
id: DOID:9009224
name: IMMUNODEFICIENCY 125
def: "This disease is an autosomal recessive inborn error of immunity characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections. Notably, affected individuals have severe HPV infections with disseminated common warts and oral HSV infections. The bone marrow is hypoplastic with low levels of CD34+ hematopoietic stem cells. Laboratory studies show anemia, decreased B cells, severely decreased monocytes, and decreased dendritic cells." [MIM:620926]
synonym: "IMD125" EXACT []
xref: MIM:620926
is_a: DOID:612 ! primary immunodeficiency disease
created_by: slaulederkind
creation_date: 2024-09-17T17:23:50Z

[Term]
id: DOID:9009225
name: Episodic Kinesigenic Dyskinesia
xref: MIM:PS128200
xref: MONDO:0044202
is_a: DOID:543 ! dystonia
created_by: tutajm
creation_date: 2024-05-03T09:27:14Z

[Term]
id: DOID:9009231
name: Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits
synonym: "CACNA1G-RELATED CONDITION" BROAD []
synonym: "early-onset severe spinocerebellar ataxia-42 with neurodevelopmental deficits" EXACT []
synonym: "SCA42ND" EXACT []
xref: MIM:618087
is_a: DOID:1441 ! autosomal dominant cerebellar ataxia
created_by: slaulede
creation_date: 2018-09-14T14:26:05Z

[Term]
id: DOID:9009235
name: Extraoral Halitosis due to Methanethiol Oxidase Deficiency
synonym: "EHMTO" EXACT []
synonym: "EXTRAORAL HALITOSIS WITH DIMETHYLSULFOXIDURIA" EXACT []
synonym: "METHANETHIOL OXIDASE DEFICIENCY" EXACT []
synonym: "MTO DEFICIENCY" EXACT []
xref: MIM:618148
is_a: DOID:9000977 ! Halitosis
created_by: slaulede
creation_date: 2019-01-14T14:25:07Z

[Term]
id: DOID:9009236
name: POLYCYSTIC KIDNEY DISEASE 8
def: "This disease is an autosomal dominant disorder characterized by enlarged kidneys, arterial hypertension, and kidney failure." [MIM:620903]
synonym: "PKD8" EXACT []
xref: MIM:620903
is_a: DOID:898 ! autosomal dominant polycystic kidney disease
created_by: slaulederkind
creation_date: 2024-09-19T10:51:05Z

[Term]
id: DOID:9009237
name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
synonym: "IBDIMDE" EXACT []
xref: EFO:0010258
xref: MIM:618213
is_a: DOID:0050589 ! inflammatory bowel disease
is_a: DOID:2914 ! immune system disease
is_a: DOID:9005627 ! Metabolic Brain Diseases
created_by: slaulede
creation_date: 2019-01-14T17:59:58Z

[Term]
id: DOID:9009238
name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES
synonym: "IDDHDF" EXACT []
xref: MIM:618147
is_a: DOID:1059 ! intellectual disability
is_a: DOID:9001487 ! Facies
is_a: DOID:9003133 ! Hypertelorism
created_by: slaulede
creation_date: 2019-01-15T10:23:04Z

[Term]
id: DOID:9009239
name: Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay
def: "This disease is a neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures." [MIM:618158]
synonym: "IDDMSSD" EXACT []
synonym: "PAK1-RELATED CONDITION" EXACT []
synonym: "PAK1-RELATED NEURODEVELOPMENTAL DISORDERS" EXACT []
xref: EFO:0010259
xref: MIM:618158
is_a: DOID:1059 ! intellectual disability
is_a: DOID:1826 ! epilepsy
is_a: DOID:9003816 ! Macrocephaly
is_a: DOID:9005466 ! Language Development Disorders
created_by: slaulede
creation_date: 2019-01-15T10:29:42Z

[Term]
id: DOID:9009240
name: Isolated Growth Hormone Deficiency Type V
def: "A disease characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary." [MIM:618160]
synonym: "combined or isolated pituitary hormone deficiency 7" EXACT []
synonym: "CPHD7" EXACT []
synonym: "IGHD5" EXACT []
xref: MIM:618160
xref: MONDO:0032569
is_a: DOID:0060870 ! isolated growth hormone deficiency
created_by: slaulede
creation_date: 2019-01-15T12:19:04Z

[Term]
id: DOID:9009241
name: Liddle Syndrome 3
synonym: "LIDLS3" EXACT []
xref: MIM:618126
is_a: DOID:0050477 ! Liddle syndrome
created_by: slaulede
creation_date: 2019-01-15T12:24:37Z

[Term]
id: DOID:9009243
name: Primary Autosomal Recessive Microcephaly 24
synonym: "MCPH24" EXACT []
xref: MIM:618179
is_a: DOID:0070296 ! primary autosomal recessive microcephaly
created_by: slaulede
creation_date: 2019-01-15T12:37:17Z

[Term]
id: DOID:9009244
name: Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome
def: "An autosomal dominant syndrome in which microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia, are observed in most patients." [MIM:618142]
synonym: "MFRG" EXACT []
xref: MIM:618142
is_a: DOID:10907 ! microcephaly
is_a: DOID:14766 ! renal agenesis
is_a: DOID:1923 ! disorder of sexual development
is_a: DOID:9008731 ! Craniofacial Abnormalities
created_by: slaulede
creation_date: 2019-01-15T12:51:12Z

[Term]
id: DOID:9009245
name: Congenital Myasthenic Syndrome 23
synonym: "CMS23" EXACT []
synonym: "congenital myasthenic syndrome 23, presynaptic" EXACT []
synonym: "SLC25A1-RELATED CONDITION" BROAD []
xref: MIM:618197
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: slaulede
creation_date: 2019-01-15T13:27:34Z

[Term]
id: DOID:9009246
name: Congenital Myasthenic Syndrome 24
synonym: "CMS24" EXACT []
synonym: "MYO9A-RELATED CONDITION" EXACT []
synonym: "presynaptic congenital myasthenic syndrome-24" EXACT []
xref: MIM:618198
is_a: DOID:3635 ! congenital myasthenic syndrome
created_by: slaulede
creation_date: 2019-01-15T13:31:11Z

[Term]
id: DOID:9009251
name: Oocyte Maturation Defect 5
def: "A disease characterized by female infertility due to inability of the oocyte to exit metaphase II, resulting in fertilization failure." []
synonym: "Oocyte/zygote/embryo maturation arrest 5" EXACT []
synonym: "OOMD5" EXACT []
synonym: "OZEMA5" EXACT []
xref: MIM:617996
is_a: DOID:9007456 ! Female Infertility
created_by: slaulede
creation_date: 2019-01-15T18:04:10Z

[Term]
id: DOID:9009252
name: Orthostatic Hypotension 2
def: "An autosomal recessive disorder characterized by severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood. The disorder results from a defect in the biosynthesis of norepinephrine from dopamine due to a cofactor deficiency." [MIM:618182]
synonym: "ORTHYP2" EXACT []
xref: MIM:618182
is_a: DOID:9005950 ! Orthostatic Hypotension
created_by: slaulede
creation_date: 2019-01-16T10:47:10Z

[Term]
id: DOID:9009253
name: Autosomal Dominant Osteopetrosis 3
def: "A disease characterized by phenotypic variability: some patients have typical features of osteopetrosis, including fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density, whereas other patients exhibit localized osteosclerosis and generalized osteopenia." [MIM:618107]
synonym: "OPTA3" EXACT []
synonym: "OSTEOPETROSIS, AUTOSOMAL DOMINANT 3" EXACT []
xref: MIM:618107
is_a: DOID:13533 ! osteopetrosis
created_by: slaulede
creation_date: 2019-01-16T10:56:45Z

[Term]
id: DOID:9009254
name: Monosomy 7 Myelodysplasia and Leukemia Syndrome
xref: MIM:PS252270
is_a: DOID:0050908 ! myelodysplastic syndrome
is_a: DOID:0060388 ! chromosomal deletion syndrome
is_a: DOID:9119 ! acute myeloid leukemia
created_by: mtutaj
creation_date: 2021-05-12T15:30:25Z

[Term]
id: DOID:9009255
name: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
def: "A disease characterized by abnormal nuclear shape and chromatin organization in blood granulocytes (PHA), short stature, and mild skeletal anomalies." [MIM:618019]
synonym: "PHASK" EXACT []
synonym: "rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly" EXACT []
synonym: "RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY" NARROW []
synonym: "SKPHA" EXACT []
xref: MIM:618019
is_a: DOID:0080006 ! bone development disease
is_a: DOID:9631 ! Pelger-Huet anomaly
created_by: slaulede
creation_date: 2019-01-16T15:13:39Z

[Term]
id: DOID:901
name: liver lymphoma
synonym: "Lymphoma of Liver" EXACT []
xref: NCI:C4949
is_a: DOID:0060058 ! lymphoma
is_a: DOID:3571 ! liver cancer
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:9011
name: larynx carcinoma in situ
def: "An in situ carcinoma that is located_in the larynx. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1934549/ "DO"]
synonym: "carcinoma in situ of larynx" EXACT []
synonym: "stage 0 carcinoma of the larynx" EXACT []
xref: ICD10CM:D02.0
xref: ICD9CM:231.0
is_a: DOID:1542 ! head and neck carcinoma
is_a: DOID:8719 ! in situ carcinoma
is_a: DOID:9003613 ! Laryngeal Neoplasms
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9021
name: esophageal leukoplakia
synonym: "leukoplakia of esophagus" EXACT []
xref: ICD9CM:530.83
xref: NCI:C3953
xref: RDO:9004493
is_a: DOID:6050 ! esophageal disease
is_a: DOID:9005065 ! Leukoplakia
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:9024
name: intestine carcinoma in situ
def: "An in situ carcinoma that is located_in the intestine. (DO)" [https://www.cancercenter.com/intestinal-cancer/symptoms/ "DO"]
xref: ICD10CM:D01.4
xref: ICD9CM:230.7
is_a: DOID:8719 ! in situ carcinoma
is_a: DOID:9002245 ! Intestinal Neoplasms
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:903
name: gastrointestinal lymphoma
xref: NCI:C38162
is_a: DOID:0060058 ! lymphoma
is_a: DOID:3119 ! gastrointestinal system cancer

[Term]
id: DOID:9036
name: parotid gland cancer
def: "A salivary gland cancer that is located_in the parotid gland. (DO)" [http://en.wikipedia.org/wiki/Parotid_gland "DO"]
synonym: "cancer of parotid" EXACT []
synonym: "cancer of parotid gland" EXACT []
synonym: "Cancer of the Parotid" EXACT []
synonym: "malignant neoplasm of the parotid" EXACT []
synonym: "malignant tumor of parotid gland" EXACT []
synonym: "Parotid Cancer" EXACT []
synonym: "parotid cancers" EXACT []
synonym: "Parotid Gland Carcinoma" NARROW []
xref: EFO:1000460
xref: ICD10CM:C07
xref: ICD9CM:142.0
xref: NCI:C3525
is_a: DOID:8850 ! salivary gland cancer
is_a: DOID:9000769 ! Parotid Neoplasms

[Term]
id: DOID:9042
name: polyp of corpus uteri
synonym: "endometrial/uterine polyp" EXACT []
synonym: "polyp of endometrium" EXACT []
synonym: "polyp of the uterus" EXACT []
synonym: "uterus polyp" EXACT []
xref: EFO:0009484
xref: EFO:1000237
xref: ICD10CM:N84.0
xref: ICD9CM:621.0
xref: NCI:C3662
is_a: DOID:1005 ! endometrial disease
is_a: DOID:9003896 ! Polyps
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:9043
name: uterine cervix leukoplakia
def: "A cervix disease that is characterized by the presence of a hyperkeratotic lesion. (DO)" [https://www.ajog.org/article/0002-9378(73)91053-3/abstract?code=ymob-site "DO"]
synonym: "leukoplakia of cervix" EXACT []
synonym: "leukoplakia of cervix uteri" EXACT []
synonym: "leukoplakia of the uterine cervix" EXACT []
xref: ICD10CM:N88.0
xref: ICD9CM:622.2
xref: NCI:C3976
is_a: DOID:2253 ! cervix disease

[Term]
id: DOID:905
name: Zellweger syndrome
def: "A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. (DO)" [http://en.wikipedia.org/wiki/Zellweger_Syndrome "DO", http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912 "DO"]
synonym: "cerebro hepato renal syndrome" EXACT []
synonym: "cerebrohepatorenal syndrome" EXACT []
synonym: "congenital iron overload" EXACT []
synonym: "PBD, ZSS" EXACT []
synonym: "peroxisome biogenesis disorders, Zellweger syndrome spectrum" EXACT []
synonym: "Zellweger's syndrome" EXACT []
synonym: "Zellweger Disease" EXACT []
synonym: "Zellweger Like Syndrome" EXACT []
synonym: "Zellweger Spectrum" EXACT []
synonym: "Zellweger syndrome spectrum" EXACT []
synonym: "ZS" EXACT []
synonym: "ZWS" EXACT []
xref: GARD:7917
xref: ICD10CM:E71.510
xref: MESH:D015211
xref: NCI:C85239
xref: ORDO:912
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:0080377 ! peroxisomal biogenesis disorder
is_a: DOID:225 ! syndrome
is_a: DOID:409 ! liver disease
is_a: DOID:557 ! kidney disease
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9053
name: bladder carcinoma in situ
def: "An in situ carcinoma that is located_in the bladder. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4647140/ "DO"]
synonym: "bladder Ca in situ" EXACT [SNOMEDCT_2005_07_31:269650008]
synonym: "carcinoma in situ of bladder" EXACT []
synonym: "Flat CIS of the urinary bladder" EXACT [NCI2004_11_17:C3644]
xref: ICD10CM:D09.0
xref: ICD9CM:233.7
xref: NCI:C3644
xref: RDO:9003589
is_a: DOID:4007 ! bladder carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:906
name: peroxisomal disease
def: "An inherited metabolic disorder that involves peroxisome malfunction. (DO)" [http://en.wikipedia.org/wiki/Peroxisomal_disorder "DO"]
synonym: "Adrenoleukodystrophy, Autosomal Neonatal Form" NARROW []
synonym: "General Peroxisomal Dysfunction" EXACT []
synonym: "general peroxisomal dysfunctions" EXACT []
synonym: "Hyperpipecolatemia" NARROW []
synonym: "Hyperpipecolic Acidemia" NARROW []
synonym: "Hyperpipecolic Acidemias" NARROW []
synonym: "Multiple Peroxisomal Dysfunction" EXACT []
synonym: "Multiple Peroxisomal Dysfunctions" EXACT []
synonym: "Neonatal Adrenoleukodystrophies" NARROW []
synonym: "Neonatal Adrenoleukodystrophy" NARROW []
synonym: "Peroxisomal Disorder" EXACT []
synonym: "Peroxisomal Disorders" EXACT []
synonym: "peroxisome biogenesis disorder, complementation group 7" NARROW []
synonym: "Single Peroxisomal Dysfunction" EXACT []
synonym: "single peroxisomal dysfunctions" EXACT []
xref: EFO:0010956
xref: ICD10CM:E71.5
xref: ICD9CM:277.86
xref: MESH:D018901
xref: NCI:C125593
xref: NCI:C85005
xref: NCI:C99251
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9060
name: pityriasis versicolor
def: "A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Superficial/Malassezia_infections/ "DO"]
synonym: "infection by Pityrosporum furfur" EXACT []
synonym: "Tinea Versicolor" EXACT []
xref: EFO:0007439
xref: ICD10CM:B36.0
xref: ICD9CM:111.0
xref: MESH:D014010
xref: NCI:C112833
xref: NCI:C82981
is_a: DOID:0050133 ! superficial mycosis
is_a: DOID:1563 ! dermatomycosis

[Term]
id: DOID:9063
name: Ritter's disease
def: "A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. (DO)" [http://en.wikipedia.org/wiki/Ritter%27s_disease "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=staphylococcal+scalded+skin "DO"]
synonym: "dermatitis exfoliativa neonatorum" EXACT []
synonym: "Pemphigus neonatorum" EXACT []
synonym: "Ritter Disease" EXACT []
synonym: "Ritters Disease" EXACT []
synonym: "scalded skin syndrome" EXACT []
synonym: "Staphylococcal Scalded Skin Syndrome" EXACT []
synonym: "Staphylococcal Scalded-Skin Syndromes" EXACT []
synonym: "toxic epidermal necrolysis, subcorneal type" EXACT []
xref: EFO:0007473
xref: ICD10CM:L00
xref: ICD9CM:695.81
xref: MESH:D013206
xref: NCI:C85077
is_a: DOID:0050339 ! commensal bacterial infectious disease
is_a: DOID:9005966 ! Staphylococcal Skin Infections

[Term]
id: DOID:9065
name: leishmaniasis
def: "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae). (DO)" [http://www.cdc.gov/ncidod/dpd/parasites/leishmania/factsht_leishmania.htm "DO"]
synonym: "leishmaniases" EXACT []
synonym: "post-kala-azar dermal infectious disease by leishmaniasis" RELATED []
synonym: "post-kala-azar dermal leishmaniasis" RELATED []
xref: EFO:0005044
xref: GARD:6881
xref: ICD10CM:B55
xref: ICD9CM:085
xref: MESH:D007896
xref: NCI:C34767
xref: ORDO:507
is_a: DOID:2789 ! parasitic protozoa infectious disease
is_a: DOID:9007293 ! Euglenozoa Infections
is_a: DOID:9007630 ! Parasitic Skin Diseases

[Term]
id: DOID:907
name: liver fibroma
synonym: "fibroma of the liver" RELATED []
xref: NCI:C5752
is_a: DOID:0050871 ! fibroma
is_a: DOID:916 ! liver benign neoplasm
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:9072
name: lethal midline granuloma
alt_id: RDO:0005700
def: "A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." [MESH:D006103]
synonym: "granuloma gangraenescens" EXACT []
synonym: "Lethal Midline Granulomas" EXACT []
synonym: "malignant granuloma of face" EXACT []
synonym: "midfacial necrotising lesion" EXACT []
synonym: "Polymorphic Reticuloses" EXACT []
synonym: "polymorphic reticulosis" EXACT []
xref: EFO:1001013
xref: GARD:9622
xref: ICD10CM:M31.2
xref: ICD9CM:446.3
xref: MESH:D006103
xref: NCI:C8196
is_a: DOID:2825 ! nose disease

[Term]
id: DOID:9074
name: systemic lupus erythematosus
alt_id: MIM:152700
alt_id: MIM:300809
alt_id: MIM:601744
alt_id: MIM:605218
alt_id: MIM:605480
alt_id: MIM:607279
alt_id: MIM:608437
alt_id: MIM:609903
alt_id: MIM:609939
alt_id: MIM:610065
alt_id: MIM:610066
alt_id: MIM:610927
alt_id: MIM:612251
alt_id: MIM:612253
alt_id: MIM:612254
alt_id: MIM:612378
alt_id: MIM:613145
def: "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. (DO)" [http://en.wikipedia.org/wiki/Systemic_lupus_erythematosus "DO"]
synonym: "CR2-RELATED CONDITION" BROAD []
synonym: "disseminated lupus erythematosus" EXACT []
synonym: "excess LMW-DNA" NARROW []
synonym: "EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA" NARROW []
synonym: "Libman Sacks disease" EXACT []
synonym: "Lupus Erythematosus Disseminatus" EXACT []
synonym: "SLE" EXACT []
synonym: "SLEB1" RELATED []
synonym: "SLEB10" RELATED []
synonym: "SLEB11" RELATED []
synonym: "SLEB12" RELATED []
synonym: "SLEB13" RELATED []
synonym: "SLEB14" RELATED []
synonym: "SLEB15" RELATED []
synonym: "SLEB2" RELATED []
synonym: "SLEB3" RELATED []
synonym: "SLEB4" RELATED []
synonym: "SLEB5" RELATED []
synonym: "SLEB6" RELATED []
synonym: "SLEB7" RELATED []
synonym: "SLEB8" RELATED []
synonym: "SLEB9" RELATED []
synonym: "SLEH1" EXACT []
synonym: "SLE - systemic lupus erythematosus" EXACT []
synonym: "STAT4-RELATED CONDITION" BROAD []
synonym: "SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH" RELATED []
synonym: "Systemic Lupus Erythematosus, Association With 2" RELATED []
synonym: "systemic lupus erythematosus, association with susceptibility to, 10" RELATED []
synonym: "SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 2" RELATED []
synonym: "systemic lupus erythematosus, hemolytic anemia-related" EXACT []
synonym: "systemic lupus erythematosus, resistance to, 1" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 1" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 10" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 11" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 12" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 13" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 14" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 15" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 2" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 3" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 4" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 5" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 6" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 7" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 8" RELATED []
synonym: "systemic lupus erythematosus, susceptibility to, 9" RELATED []
synonym: "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1" RELATED []
xref: EFO:0002690
xref: GARD:10253
xref: ICD10CM:M32.9
xref: ICD9CM:710.0
xref: MESH:D008180
xref: MONDO:0007915
xref: NCI:C3201
xref: ORDO:536
is_a: DOID:65 ! connective tissue disease
is_a: DOID:8857 ! lupus erythematosus
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:9076
name: discoid lupus erythematosus of eyelid
xref: ICD10CM:H01.12
xref: ICD9CM:373.34
xref: RDO:9003502
is_a: DOID:1894 ! noninfectious dermatoses of eyelid
is_a: DOID:9006779 ! Discoid Lupus Erythematosus
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:9080
name: macroglobulinemia
synonym: "primary macroglobulinemia" EXACT []
xref: EFO:0002616
is_a: DOID:2345 ! plasma protein metabolism disease
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:9087
name: anal carcinoma in situ
def: "An in situ carcinoma that is located_in the anus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2780101/ "DO"]
synonym: "anal carcinoma stage 0" EXACT []
synonym: "anal intraepithelial neoplasia grade III" EXACT []
synonym: "carcinoma in situ of anal canal" EXACT []
synonym: "carcinoma in situ of anus" EXACT []
xref: ICD9CM:230.6
xref: NCI:C157575
is_a: DOID:4908 ! anal carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9088
name: parapsoriasis
def: "The term applied to a group of relatively uncommon inflammatory, maculopapular, scaly eruptions of unknown etiology and resistant to conventional treatment. Eruptions are both psoriatic and lichenoid in appearance, but the diseases are distinct from psoriasis, lichen planus, or other recognized dermatoses. Proposed nomenclature divides parapsoriasis into two distinct subgroups, PITYRIASIS LICHENOIDES and parapsoriasis en plaques (small- and large-plaque parapsoriasis)." [MESH:D010267]
synonym: "digitate dermatoses" EXACT []
synonym: "Digitate Dermatosis" EXACT []
synonym: "Maculopapular Erythroderma" EXACT []
synonym: "Maculopapular Erythrodermas" EXACT []
synonym: "Parakeratosis Variegata" EXACT []
synonym: "Parapsoriases" EXACT []
synonym: "Parapsoriasis en Plaque" EXACT []
synonym: "parapsoriasis en plaques" EXACT []
xref: EFO:1000747
xref: GARD:7328
xref: ICD10CM:L41
xref: ICD10CM:L41.9
xref: ICD9CM:696.2
xref: MESH:D010267
xref: NCI:C3312
is_a: DOID:8893 ! psoriasis
is_a: DOID:9008246 ! Papulosquamous Skin Diseases

[Term]
id: DOID:9091
name: REM sleep behavior disorder
def: "A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. (DO)" [http://en.wikipedia.org/wiki/Rapid_eye_movement_behavior_disorder "DO"]
synonym: "rapid eye movement sleep behavior disorder" EXACT []
synonym: "Rapid eye movement sleep behaviour disorder" EXACT []
synonym: "REM Behavior Disorder" EXACT []
synonym: "REM behavior disorders" EXACT []
synonym: "REM sleep behaviour disorder" EXACT []
xref: EFO:0007462
xref: ICD10CM:G47.52
xref: ICD9CM:327.42
xref: MESH:D020187
is_a: DOID:9000475 ! REM Sleep Parasomnias

[Term]
id: DOID:9095
name: esophagus carcinoma in situ
def: "An in situ carcinoma that is located_in the esophagus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6988210 "DO"]
synonym: "carcinoma in situ of esophagus" EXACT []
synonym: "carcinoma in situ of oesophagus" EXACT []
synonym: "oesophagus carcinoma in situ" EXACT []
synonym: "severe esophageal dysplasia" EXACT []
synonym: "stage 0 carcinoma of the esophagus" EXACT []
synonym: "stage 0 carcinoma of the oesophagus" EXACT []
xref: ICD10CM:D00.1
xref: ICD9CM:230.1
is_a: DOID:1107 ! esophageal carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9097
name: erythematosquamous dermatosis
synonym: "Other erythematosquamous dermatosis" EXACT []
xref: EFO:1000695
xref: ICD9CM:690
xref: NCI:C34591
is_a: DOID:37 ! skin disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:9098
name: sebaceous gland disease
def: "A skin disease that is located_in the sebaceous gland. (DO)" [http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance "DO", https://www.ncbi.nlm.nih.gov/pubmed/18837699 "DO"]
synonym: "sebaceous gland diseases" EXACT []
xref: EFO:1000763
xref: ICD10CM:L70.8
xref: ICD9CM:706.1
xref: MESH:D012625
is_a: DOID:37 ! skin disease

[Term]
id: DOID:910
name: occipital lobe neoplasm
synonym: "malignant neoplasm of occipital lobe" EXACT []
synonym: "neoplasm of occipital lobe" EXACT []
synonym: "tumor of occipital lobe" EXACT []
xref: ICD10CM:C71.4
xref: ICD9CM:191.4
xref: NCI:C5574
is_a: DOID:368 ! cerebrum cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:9108
name: uterus carcinoma in situ
def: "An in situ carcinoma that is located_in the uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25423715 "DO"]
xref: ICD9CM:233.2
xref: MONDO:0004710
is_a: DOID:8719 ! in situ carcinoma
is_a: DOID:9008198 ! uterine carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9111
name: cutaneous leishmaniasis
def: "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm "DO"]
synonym: "American Leishmaniasis" EXACT []
synonym: "Asian desert cutaneous leishmaniasis" EXACT []
synonym: "Cutaneous Leishmaniases" EXACT []
synonym: "leproid leishmaniasis" EXACT []
synonym: "New World Leishmaniasis" EXACT []
synonym: "Old World Leishmaniasis" EXACT []
synonym: "Oriental Sore" EXACT []
xref: EFO:0005046
xref: ICD10CM:B55.1
xref: MESH:D016773
xref: NCI:C34768
is_a: DOID:9065 ! leishmaniasis

[Term]
id: DOID:9113
name: granuloma inguinale
def: "A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. (DO)" [http://en.wikipedia.org/wiki/Granuloma_inguinale "DO"]
synonym: "Donovanosis" EXACT []
synonym: "Granuloma Venereum" EXACT []
synonym: "pudendal ulcer" EXACT []
xref: EFO:0007291
xref: GARD:9532
xref: ICD10CM:A58
xref: ICD9CM:099.2
xref: MESH:D006100
xref: NCI:C3065
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9003209 ! Bacterial Skin Diseases
is_a: DOID:9003491 ! Enterobacteriaceae Infections
is_a: DOID:9006980 ! Bacterial Sexually Transmitted Diseases

[Term]
id: DOID:9119
name: acute myeloid leukemia
alt_id: MIM:601626
def: "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. (DO)" [http://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia "DO", http://en.wikipedia.org/wiki/Acute_myeloid_leukemia "DO", http://www.cancer.gov/dictionary?cdrid=44363 "DO", https://www.cancer.org/cancer/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html "DO"]
synonym: "acute myeloblastic leukaemia" EXACT []
synonym: "acute myeloblastic leukemia" EXACT []
synonym: "acute myeloblastic leukemias" EXACT []
synonym: "Acute Myelocytic Leukemia" EXACT []
synonym: "Acute Myelocytic Leukemias" EXACT []
synonym: "acute myelogenous leukaemia" EXACT []
synonym: "Acute Myelogenous Leukemia" EXACT []
synonym: "Acute Myelogenous Leukemias" EXACT []
synonym: "acute myeloid leukaemia" EXACT []
synonym: "acute myeloid leukemia, m0 subtype" EXACT []
synonym: "acute myeloid leukemia, M1" EXACT []
synonym: "acute myeloid leukemia, M2" EXACT []
synonym: "acute myeloid leukemia, reduced survival in" RELATED []
synonym: "acute myeloid leukemia, reduced survival in, somatic" RELATED []
synonym: "Acute Myeloid Leukemias" EXACT []
synonym: "Acute myeloid leukemia, somatic" NARROW []
synonym: "acute myeloid leukemia, susceptibility to" RELATED []
synonym: "Acute Myeloid Leukemia with Maturation" NARROW []
synonym: "Acute Myeloid Leukemia without Maturation" NARROW []
synonym: "Acute Nonlymphoblastic Leukemia" EXACT []
synonym: "Acute Nonlymphoblastic Leukemias" EXACT []
synonym: "Acute Nonlymphocytic Leukemia" EXACT []
synonym: "acute nonlymphocytic leukemias" EXACT []
synonym: "adult acute myeloid leukemia" NARROW []
synonym: "AML" EXACT []
synonym: "AML - acute myeloid leukemia" EXACT []
synonym: "ANLL" EXACT []
synonym: "ETV6-RELATED CONDITION" BROAD []
synonym: "INHERITED ACUTE MYELOID LEUKEMIA" NARROW []
xref: EFO:0000222
xref: EFO:1001934
xref: GARD:12757
xref: ICD10CM:C92.0
xref: ICD9CM:205.0
xref: MESH:D015470
xref: NCI:C27753
xref: NCI:C3171
is_a: DOID:8692 ! myeloid leukemia

[Term]
id: DOID:9120
name: amyloidosis
def: "A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition. (DO)" [https://en.wikipedia.org/wiki/Amyloidosis "DO", https://pubmed.ncbi.nlm.nih.gov/33100054/ "DO", https://pubmed.ncbi.nlm.nih.gov/33787033/ "DO", https://www.tandfonline.com/doi/pdf/10.1080/13506129.2020.1835263?needAccess=true "DO"]
synonym: "amyloid disease" EXACT []
synonym: "amyloidoses" EXACT []
synonym: "SERUM AMYLOID A VARIANT" RELATED []
xref: EFO:1001875
xref: ICD10CM:E85
xref: ICD9CM:277.3
xref: MESH:D000686
xref: NCI:C2868
is_a: DOID:9000842 ! Proteostasis Deficiencies

[Term]
id: DOID:9123
name: eczema herpeticum
def: "A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520662/ "DO"]
synonym: "eczema vaccinatum" EXACT []
synonym: "herpes simplex dermatitis" EXACT []
synonym: "herpes simplex dermatitis of eyelid" EXACT []
synonym: "herpes simplex eyelid dermatitis" EXACT []
synonym: "herpes simplex virus dermatitis" EXACT []
synonym: "herpes simplex virus eyelid dermatitis" EXACT []
synonym: "Kaposi's Varicelliform Eruption" EXACT []
synonym: "Kaposis Varicelliform Eruption" EXACT []
synonym: "Kaposi varicelliform eruption" EXACT []
xref: ICD10CM:B00.0
xref: ICD9CM:054.0
xref: ICD9CM:054.41
xref: MESH:D007617
xref: NCI:C35620
is_a: DOID:8566 ! herpes simplex
is_a: DOID:9004383 ! Eczematous Skin Diseases

[Term]
id: DOID:9125
name: lower gum cancer
synonym: "malignant tumor of lower gingiva" EXACT []
synonym: "malignant tumour of lower gum" EXACT []
xref: ICD10CM:C03.1
xref: ICD9CM:143.1
is_a: DOID:8602 ! gum cancer

[Term]
id: DOID:913
name: atrophic muscular disease
def: "A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.10d&code=C84574 "DO"]
synonym: "atrophic muscular disorder" EXACT []
synonym: "atrophic muscular disorders" EXACT []
synonym: "distal lower limb amyotrophy" NARROW []
synonym: "disuse atrophies" EXACT []
synonym: "disuse atrophy" EXACT []
synonym: "spinobulbar atrophies" EXACT []
synonym: "spinobulbar atrophy" EXACT []
synonym: "spinopontine atrophies" EXACT []
synonym: "spinopontine atrophy" EXACT []
xref: EFO:0009912
xref: MESH:D020966
xref: NCI:C84574
is_a: DOID:66 ! muscle tissue disease

[Term]
id: DOID:9132
name: liver carcinoma in situ
def: "An in situ carcinoma that is located_in the liver. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1657755 "DO"]
synonym: "carcinoma in situ of liver and biliary system" EXACT []
synonym: "carcinoma in situ of liver, gallbladder and bile ducts" EXACT []
xref: ICD10CM:D01.5
xref: ICD9CM:230.8
is_a: DOID:686 ! liver carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9138
name: stomach carcinoma in situ
def: "An in situ carcinoma that is located_in the stomach. (DO)" [https://www.cancer.gov/types/stomach/patient/stomach-treatment-pdq "DO"]
synonym: "carcinoma in situ of stomach" EXACT []
synonym: "gastric carcinoma in situ" EXACT []
xref: ICD10CM:D00.2
xref: ICD9CM:230.2
is_a: DOID:5517 ! stomach carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:914
name: peliosis hepatis
def: "A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." [MESH:D010382]
synonym: "hepatic peliosis" EXACT []
xref: EFO:1001387
xref: ICD10CM:K76.4
xref: MESH:D010382
is_a: DOID:272 ! hepatic vascular disease

[Term]
id: DOID:9140
name: xeroderma of eyelid
xref: ICD10CM:H01.14
xref: ICD9CM:373.33
xref: RDO:9003505
is_a: DOID:1697 ! ichthyosis
is_a: DOID:1894 ! noninfectious dermatoses of eyelid
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:9146
name: visceral leishmaniasis
def: "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. (DO)" [http://en.wikipedia.org/wiki/Visceral_leishmaniasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm "DO"]
synonym: "black fever" EXACT []
synonym: "infection by visceral leishmaniasis" EXACT []
synonym: "kala azar" EXACT []
synonym: "kala azar, susceptibility to, 1" RELATED []
synonym: "kala azar, susceptibility to, 2" RELATED []
synonym: "kala azar, susceptibility to, 3" RELATED []
synonym: "KAZA1" RELATED []
synonym: "KAZA2" RELATED []
synonym: "KAZA3" RELATED []
synonym: "visceral leishmaniasis, susceptibility to, 1" RELATED []
synonym: "visceral leishmaniasis, susceptibility to, 3" RELATED []
xref: EFO:0005045
xref: ICD10CM:B55.0
xref: ICD9CM:085.0
xref: MESH:D007898
xref: MIM:608207
xref: MIM:611381
xref: MIM:611382
xref: MIM:PS608207
xref: MONDO:0005445
xref: NCI:C34771
is_a: DOID:0080001 ! bone disease
is_a: DOID:2529 ! splenic disease
is_a: DOID:409 ! liver disease
is_a: DOID:9065 ! leishmaniasis

[Term]
id: DOID:9149
name: hard palate cancer
synonym: "malignant neoplasm of hard palate" EXACT []
synonym: "malignant tumor of hard palate" EXACT []
synonym: "malignant tumour of hard palate" EXACT []
xref: ICD10CM:C05.0
xref: ICD9CM:145.2
xref: NCI:C3528
is_a: DOID:8618 ! oral cavity cancer
is_a: DOID:9005313 ! Palatal Neoplasms

[Term]
id: DOID:9153
name: variola minor
def: "A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. (DO)" [https://www.fda.gov/vaccines-blood-biologics/vaccines/smallpox "DO"]
synonym: "alastrim" EXACT []
synonym: "cottonpox" EXACT []
synonym: "milkpox" EXACT []
synonym: "variola minors" EXACT []
synonym: "whitepox" EXACT []
xref: ICD9CM:050.1
xref: NCI:C34365
is_a: DOID:8736 ! smallpox
created_by: rgd
creation_date: 2017-10-11T00:00:00Z

[Term]
id: DOID:9155
name: mucocutaneous leishmaniasis
alt_id: MIM:602068
def: "A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa. (DO)" [http://www.bmj.com/cgi/content/full/329/7470/842 "DO"]
synonym: "cutaneous leishmaniasis, American" EXACT []
synonym: "Mucocutaneous Leishmaniases" EXACT []
synonym: "mucocutaneous leishmaniasis, American" EXACT []
synonym: "New World cutaneous leishmaniasis" EXACT []
xref: EFO:0007379
xref: ICD10CM:B55.2
xref: ICD9CM:085.5
xref: MESH:D007897
is_a: DOID:9111 ! cutaneous leishmaniasis
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:9159
name: gas gangrene
def: "A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis. (DO)" [http://en.wikipedia.org/wiki/Gas_gangrene "DO", http://www.merckmanuals.com/home/sec17/ch190/ch190g.html#sec17-ch190-ch190g-157 "DO"]
synonym: "gas bacillus infection" EXACT []
synonym: "gas gangrenes" EXACT []
synonym: "myonecrosis" EXACT []
xref: EFO:0007279
xref: ICD10CM:A48.0
xref: ICD9CM:040.0
xref: MESH:D005738
is_a: DOID:0050339 ! commensal bacterial infectious disease
is_a: DOID:66 ! muscle tissue disease
is_a: DOID:9006732 ! Clostridium Infections

[Term]
id: DOID:916
name: liver benign neoplasm
def: "Tumors or cancer of the LIVER." [MESH:D008113]
synonym: "epithelial hepatic and intrahepatic bile duct neoplasm" EXACT []
xref: EFO:1001513
xref: NCI:C7103
xref: NCI:C7106
is_a: DOID:0060089 ! endocrine organ benign neoplasm
is_a: DOID:3117 ! hepatobiliary benign neoplasm
is_a: DOID:9007188 ! Liver Neoplasms

[Term]
id: DOID:9164
name: achalasia
def: "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000267.htm "DO"]
synonym: "achalasia of cardia" EXACT []
synonym: "achalasia of esophagus" EXACT []
synonym: "achalasias" EXACT []
synonym: "cardiospasm" EXACT []
synonym: "cardiospasms" EXACT []
synonym: "esophageal achalasia" EXACT []
synonym: "esophageal achalasias" EXACT []
synonym: "hypertensive lower esophageal sphincter" EXACT []
synonym: "lack of reflex relaxation of lower oesophageal sphincter" EXACT []
synonym: "megaesophagus" RELATED []
xref: ICD10CM:K22.0
xref: ICD9CM:530.0
xref: MESH:D004931
xref: MONDO:0008698
xref: NCI:C84699
is_a: DOID:9192 ! dyskinesia of esophagus

[Term]
id: DOID:9165
name: neurotic excoriation
synonym: "dermatitis artefacta" EXACT []
synonym: "dermatitis factitia" EXACT []
synonym: "dermatitis ficta" EXACT []
synonym: "factitious skin disease" EXACT []
xref: EFO:1000741
xref: ICD10CM:L98.1
xref: ICD9CM:698.4
is_a: DOID:2723 ! dermatitis
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:9169
name: Wiskott-Aldrich syndrome
alt_id: MIM:301000
def: "A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia). (DO)" [https://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome "DO"]
synonym: "Aldrich Syndrome" EXACT []
synonym: "eczema-thrombocytopenia-immunodeficiency syndrome" EXACT []
synonym: "eczema-thrombocytopenia-immunodeficiency syndromes" EXACT []
synonym: "IMD2" EXACT []
synonym: "immunodeficiency 2" EXACT []
synonym: "WAS" EXACT []
synonym: "WAS1" EXACT []
synonym: "Wiskott-Aldrich syndrome 1" EXACT []
synonym: "Wiskott-Aldrich syndrome, attenuated" NARROW []
synonym: "Wiskott Syndrome" EXACT []
xref: EFO:0003903
xref: ICD10CM:D82.0
xref: ICD9CM:279.12
xref: MESH:D014923
xref: MONDO:0010518
xref: NCI:C3448
is_a: DOID:0080012 ! X-linked recessive disease
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:614 ! lymphopenia
is_a: DOID:9002557 ! Inherited Blood Coagulation Disease

[Term]
id: DOID:917
name: liver leiomyoma
synonym: "leiomyoma of the liver" EXACT []
xref: NCI:C5753
is_a: DOID:127 ! leiomyoma
is_a: DOID:916 ! liver benign neoplasm
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:9173
name: submandibular gland cancer
synonym: "malignant neoplasm of submaxillary gland" EXACT []
synonym: "malignant tumor of submandibular gland" EXACT [SNOMEDCT_2005_07_31:363380002]
synonym: "malignant tumor of the Submandibular gland" EXACT [NCI2004_11_17:C3526]
synonym: "Submandibular Gland Adenocarcinoma" NARROW []
synonym: "Submandibular Gland Adenoid Cystic Carcinoma" NARROW []
xref: EFO:1000554
xref: EFO:1000555
xref: ICD10CM:C08.0
xref: ICD9CM:142.1
xref: NCI:C3526
xref: RDO:9004566
is_a: DOID:8850 ! salivary gland cancer
is_a: DOID:9008501 ! Submandibular Gland Neoplasms
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:9174
name: rectum carcinoma in situ
def: "An in situ carcinoma that is located_in the rectum. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/622667 "DO"]
synonym: "carcinoma in situ of rectum" EXACT [SNOMEDCT_2005_07_31:92696009]
synonym: "Severe dysplasia of rectum" EXACT [SNOMEDCT_2005_07_31:308879003]
synonym: "Severe Rectal Dysplasia" EXACT [NCI2004_11_17:C4853]
xref: ICD10CM:D01.2
xref: ICD9CM:230.4
xref: RDO:9003601
is_a: DOID:8719 ! in situ carcinoma
is_a: DOID:9002533 ! Rectum Carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:918
name: liver inflammatory pseudotumor
synonym: "Hepatic Inflammatory Myofibroblastic Tumor" EXACT []
synonym: "Inflammatory Pseudotumor of Liver" EXACT []
synonym: "inflammatory pseudotumor of the liver" EXACT []
synonym: "Liver Inflammatory Myofibroblastic Tumor" EXACT []
xref: EFO:1000324
xref: NCI:C5858
is_a: DOID:409 ! liver disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9181
name: amebiasis
def: "A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. (DO)" [http://en.wikipedia.org/wiki/Amoebiasis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000298.htm "DO"]
synonym: "amebiases" EXACT []
synonym: "Amebic Abscess" EXACT []
synonym: "amebic abscesses" EXACT []
synonym: "Ameboma" EXACT []
synonym: "Amebomas" EXACT []
synonym: "amoebiases" EXACT []
synonym: "amoebiasis" EXACT []
synonym: "chronic intestinal amebiasis" RELATED []
synonym: "Iodamoebiases" EXACT []
synonym: "Iodamoebiasis" EXACT []
xref: EFO:0007144
xref: GARD:652
xref: ICD10CM:A06
xref: ICD9CM:006
xref: MESH:D000562
xref: NCI:C157785
xref: NCI:C84551
is_a: DOID:2789 ! parasitic protozoa infectious disease

[Term]
id: DOID:9182
name: pemphigus
def: "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured. (DO)" [https://en.wikipedia.org/wiki/Pemphigus "DO", https://medlineplus.gov/pemphigus.html "DO", https://rarediseases.org/rare-diseases/pemphigus/ "DO"]
synonym: "drug-induced pemphigus" NARROW []
synonym: "IgG/IgA pemphigus" NARROW []
synonym: "radiotherapy-induced pemphigus" NARROW []
xref: EFO:0008605
xref: EFO:0008607
xref: EFO:0008608
xref: EFO:1000749
xref: GARD:7352
xref: ICD10CM:L10
xref: ICD9CM:694.4
xref: MESH:D010392
xref: NCI:C34909
xref: ORDO:79481
is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue
is_a: DOID:8502 ! bullous skin disease

[Term]
id: DOID:9188
name: vestibule of mouth cancer
synonym: "malignant neoplasm of vestibule of mouth" EXACT []
synonym: "malignant tumor of vestibule of mouth" EXACT []
xref: ICD10CM:C06.1
xref: ICD9CM:145.1
is_a: DOID:8618 ! oral cavity cancer
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:9191
name: diabetic macular edema
xref: EFO:0009321
xref: ICD9CM:362.07
is_a: DOID:4449 ! macular retinal edema
is_a: DOID:8947 ! diabetic retinopathy
is_a: DOID:9003638 ! diabetic maculopathy
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:9192
name: dyskinesia of esophagus
def: "Disorders affecting the motor function of the UPPER ESOPHAGEAL SPHINCTER; LOWER ESOPHAGEAL SPHINCTER; the ESOPHAGUS body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (GASTROESOPHAGEAL REFLUX). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus)." [MESH:D015154]
synonym: "dyskinesia of oesophagus" EXACT []
synonym: "Esophageal Dysmotilities" EXACT []
synonym: "Esophageal Dysmotility" EXACT []
synonym: "Esophageal Motility Disorder" EXACT []
synonym: "Esophageal Motility Disorders" EXACT []
synonym: "Nutcracker Esophagus" EXACT []
synonym: "oesophageal dysmotility" EXACT []
synonym: "oesophageal motor disorder" EXACT []
xref: ICD10CM:K22.4
xref: ICD9CM:530.5
xref: MESH:D015154
is_a: DOID:6050 ! esophageal disease
is_a: DOID:9000123 ! Deglutition Disorders
is_a: DOID:9000924 ! Gastrointestinal Motility Disorders

[Term]
id: DOID:92
name: speech disorder
def: "A communication disorder that involves difficulty with the act of speech production. (DO)" [http://en.wikipedia.org/wiki/Speech_disorders "DO"]
synonym: "Aprosodia" EXACT []
synonym: "aprosodias" EXACT []
synonym: "Aprosodic Speech" EXACT []
synonym: "Cluttering" EXACT []
synonym: "clutterings" EXACT []
synonym: "Dysglossia" EXACT []
synonym: "Dysglossias" EXACT []
synonym: "Dyslalia" EXACT []
synonym: "Dyslalias" EXACT []
synonym: "Rhinolalia" EXACT []
synonym: "Rhinolalias" EXACT []
synonym: "speech disorders" EXACT []
synonym: "verbal fluency disorder" EXACT []
synonym: "verbal fluency disorders" EXACT []
xref: MESH:D013064
xref: NCI:C5041
is_a: DOID:2033 ! communication disorder
is_a: DOID:93 ! language disorder

[Term]
id: DOID:9201
name: lichen planus
def: "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. (DO)" [http://en.wikipedia.org/wiki/Lichen_planus "DO"]
synonym: "lichen ruber planus" EXACT []
synonym: "lichen rubra planus" EXACT []
xref: EFO:1000726
xref: GARD:12344
xref: ICD10CM:L43
xref: ICD9CM:697.0
xref: MESH:D008010
xref: NCI:C3189
is_a: DOID:8574 ! lichen disease

[Term]
id: DOID:9206
name: Barrett's esophagus
alt_id: MIM:614266
def: "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21461873/ "DO"]
synonym: "Barrett's esophagus with esophagitis" EXACT []
synonym: "Barrett's oesophagus" EXACT []
synonym: "Barrett's Syndrome" EXACT []
synonym: "Barrett's ulcer of esophagus" EXACT []
synonym: "Barrett epithelium" EXACT []
synonym: "Barrett esophagus" EXACT []
synonym: "BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA" NARROW []
synonym: "Barrett metaplasia" EXACT []
synonym: "BARRETT METAPLASIA  ADENOCARCINOMA OF ESOPHAGUS" NARROW []
synonym: "Barretts Esophagus" EXACT []
synonym: "Barretts syndrome" EXACT []
synonym: "Barrett syndrome" EXACT []
synonym: "ulcerative esophagitis" EXACT []
xref: EFO:0000280
xref: GARD:20
xref: ICD10CM:K22.7
xref: ICD9CM:530.85
xref: MESH:D001471
xref: NCI:C2891
is_a: DOID:6050 ! esophageal disease
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:9207
name: periodic limb movement disorder
def: "A sleep disorder that involves involuntary limb movement during sleep. (DO)" [http://en.wikipedia.org/wiki/Periodic_limb_movement_disorder "DO"]
synonym: "excessive periodic sleep related leg movements" EXACT []
synonym: "nocturnal myoclonus" EXACT []
synonym: "Nocturnal Myoclonus Syndrome" EXACT []
synonym: "Nocturnal Myoclonus Syndromes" EXACT []
synonym: "Periodic Movement Disorder, Sleep" EXACT []
synonym: "Sleep Disorder, Periodic Movements" EXACT []
synonym: "Sleep Myoclonus Syndrome" EXACT []
synonym: "sleep myoclonus syndromes" EXACT []
xref: EFO:0007428
xref: ICD10CM:G47.61
xref: ICD9CM:327.51
xref: MESH:D020189
is_a: DOID:225 ! syndrome
is_a: DOID:9000166 ! Intrinsic Sleep Disorders
is_a: DOID:9004040 ! Parasomnias

[Term]
id: DOID:9210
name: herpes zoster oticus
def: "A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache. (DO)" [https://rarediseases.info.nih.gov/diseases/7525/index "DO"]
synonym: "auricular syndrome of Ramsay Hunt" EXACT []
synonym: "geniculate herpes zoster" EXACT []
synonym: "geniculate neuralgia" EXACT []
synonym: "geniculate neuralgias" EXACT []
synonym: "herpes zoster auricularis" EXACT []
synonym: "Herpes Zoster Cephalicus" EXACT []
synonym: "herpetic geniculate ganglionitides" EXACT []
synonym: "herpetic geniculate ganglionitis" EXACT []
synonym: "nervus intermedius neuralgia" EXACT []
synonym: "Ramsay Hunt auricular syndrome" EXACT []
synonym: "Ramsay Hunt syndrome" EXACT []
synonym: "Ramsay Hunt syndrome type 2" EXACT []
synonym: "Ramsay Hunt syndrome type II" EXACT []
synonym: "Ramsey Hunt syndrome" EXACT []
xref: EFO:0007281
xref: GARD:7525
xref: ICD10CM:B02.21
xref: ICD9CM:053.11
xref: MESH:D016697
xref: NCI:C84763
is_a: DOID:1756 ! facial nerve disease
is_a: DOID:225 ! syndrome
is_a: DOID:2742 ! auditory system disease
is_a: DOID:4953 ! poliomyelitis
is_a: DOID:8536 ! herpes zoster

[Term]
id: DOID:9212
name: pityriasis rubra pilaris
alt_id: MIM:173200
def: "A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29302927/ "DO"]
synonym: "Devergie's disease" EXACT []
synonym: "papulosquamous eruptions" NARROW []
synonym: "PRP" EXACT []
xref: GARD:7401
xref: ICD10CM:L44.0
xref: ICD9CM:696.4
xref: MESH:D010916
xref: NCI:C85014
is_a: DOID:9007287 ! Pityriasis

[Term]
id: DOID:9220
name: central sleep apnea
alt_id: MIM:107640
alt_id: MIM:207720
def: "A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. (DO)" [http://en.wikipedia.org/wiki/Central_sleep_apnea "DO", http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/ "DO"]
synonym: "central alveolar hypoventilation" EXACT []
synonym: "central alveolar hypoventilations" EXACT []
synonym: "Central Alveolar Hypoventilation Syndrome" EXACT []
synonym: "Central Apnea" EXACT []
synonym: "central apneas" EXACT []
synonym: "Central Sleep Apneas" EXACT []
synonym: "Central Sleep Apnea Syndrome" EXACT []
synonym: "Central Sleep Disordered Breathing" EXACT []
synonym: "Central Sleep-Disordered Breathings" EXACT []
synonym: "lethal central sleep apnea" EXACT []
synonym: "Newborn Primary Sleep Apneas" EXACT []
synonym: "newborn sleep apnea, primary" EXACT []
synonym: "Ondine Syndrome" EXACT []
synonym: "Primary Central Sleep Apnea" EXACT []
synonym: "Primary Sleep Apneas of Newborn" EXACT []
synonym: "secondary central sleep apnea" EXACT []
xref: MESH:D020182
xref: NCI:C116046
is_a: DOID:0050847 ! sleep apnea

[Term]
id: DOID:9230
name: pompholyx
def: "A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin. (DO)" [https://jamanetwork.com/journals/jamadermatology/fullarticle/654498 "DO"]
synonym: "cheiropompholyx" EXACT []
synonym: "dyshidrosis" EXACT []
synonym: "dyshidrotic eczema" EXACT []
synonym: "Dyshidrotic Eczemas" EXACT []
synonym: "Dyshydrotic Eczema" EXACT []
synonym: "Dyshydrotic Eczemas" EXACT []
synonym: "vesicular eczema of hands and/or feet" EXACT []
synonym: "Vesicular Palmoplantar Eczema" EXACT []
synonym: "Vesicular Palmoplantar Eczemas" EXACT []
xref: EFO:1000688
xref: ICD9CM:705.81
xref: MESH:D011146
is_a: DOID:1383 ! sweat gland disease
is_a: DOID:2731 ! vesiculobullous skin disease
is_a: DOID:9007356 ! Eczema

[Term]
id: DOID:9234
name: kidney carcinoma in situ
def: "An in situ carcinoma that is located_in the kidney. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4417875 "DO"]
xref: ICD10CM:D09.1
xref: ICD9CM:233.9
is_a: DOID:4451 ! renal carcinoma
is_a: DOID:8719 ! in situ carcinoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9235
name: pyriform sinus cancer
synonym: "malignant neoplasm of pyriform fossa" EXACT []
synonym: "malignant neoplasm of the pyriform fossa" EXACT []
synonym: "malignant tumor of pyriform fossa" EXACT []
xref: ICD10CM:C12
xref: ICD9CM:148.1
xref: NCI:C3531
is_a: DOID:8533 ! hypopharynx cancer
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:9240
name: erythromelalgia
alt_id: MIM:133020
def: "A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature. (DO)" [https://en.wikipedia.org/wiki/Erythromelalgia "DO", https://ghr.nlm.nih.gov/condition/erythromelalgia "DO", https://rarediseases.org/rare-diseases/erythromelalgia/ "DO"]
synonym: "acute episodes of neuropathic symptoms" NARROW []
synonym: "Erythermalgia" EXACT []
synonym: "erythermalgias" EXACT []
synonym: "ERYTHROMELALGIA, FAMILIAL NEUROPATHY, SMALL FIBER" NARROW []
synonym: "erythromelalgias" EXACT []
synonym: "Familial Erythromelalgia" NARROW []
synonym: "INHERITED ERYTHROMELALGIA" NARROW []
synonym: "Primary Erythermalgia" NARROW []
synonym: "primary erythermalgias" NARROW []
synonym: "primary erythromelalgia" NARROW []
synonym: "SFNP" NARROW []
synonym: "sodium channelopathy-related small fiber neuropathy" NARROW []
xref: GARD:6377
xref: ICD10CM:I73.81
xref: ICD9CM:443.82
xref: MESH:D004916
xref: NCI:C125383
xref: NCI:C34593
is_a: DOID:341 ! peripheral vascular disease
is_a: DOID:870 ! neuropathy

[Term]
id: DOID:9245
name: Alagille syndrome
def: "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. (DO)" [https://research.nhgri.nih.gov/atlas/condition/alagille-syndrome "DO", https://www.niddk.nih.gov/health-information/liver-disease/alagille-syndrome/definition-facts "DO"]
synonym: "AHD" EXACT []
synonym: "Alagille's syndrome" EXACT []
synonym: "Alagilles syndrome" EXACT []
synonym: "Alagille Watson Syndrome" EXACT []
synonym: "ALGS" EXACT []
synonym: "Arteriohepatic Dysplasia" EXACT []
synonym: "Arteriohepatic Dysplasia (AHD)" EXACT []
synonym: "AWS" EXACT []
synonym: "Cardiovertebral Syndrome" EXACT []
synonym: "Cholestasis with Peripheral Pulmonary Stenosis" EXACT []
synonym: "Hepatic Ductular Hypoplasia" EXACT []
synonym: "Hepatic Ductular Hypoplasia, Syndromatic" EXACT []
synonym: "hepatofacioneurocardiovertebral syndrome" EXACT []
synonym: "paucity of interlobular bile ducts" EXACT []
synonym: "Watson-Miller syndrome" EXACT []
xref: EFO:0004151
xref: GARD:804
xref: ICD10CM:Q44.7
xref: MESH:D016738
xref: MIM:PS118450
xref: MONDO:0007318
xref: NCI:C35139
xref: ORDO:52
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:1852 ! intrahepatic cholestasis
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9246
name: cerebral amyloid angiopathy
def: "An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. (DO)" [http://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy "DO"]
synonym: "cerebral amyloid angiopathies" EXACT []
synonym: "congophilic angiopathies" EXACT []
synonym: "Congophilic Angiopathy" EXACT []
synonym: "Dutch hereditary cerebral amyloid angiopathy" EXACT []
synonym: "hereditary cerebral haemorrhage with amyloidosis - Dutch type" EXACT []
synonym: "sporadic cerebral amyloid angiopathy" EXACT []
xref: EFO:0006790
xref: MESH:D016657
xref: ORDO:85458
is_a: DOID:3527 ! cerebral arterial disease
is_a: DOID:655 ! inherited metabolic disorder
is_a: DOID:9120 ! amyloidosis

[Term]
id: DOID:9248
name: Pallister-Hall syndrome
alt_id: MIM:146510
def: "A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31011455/ "DO", https://pubmed.ncbi.nlm.nih.gov/8914745/ "DO", https://research.nhgri.nih.gov/atlas/condition/pallister-hall-syndrome "DO"]
synonym: "CAVE complex" EXACT []
synonym: "Cerebroacrovisceral Early Lethality Complex" EXACT []
synonym: "Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly" EXACT []
synonym: "Hypothalamic Hamartoblastoma Syndrome" EXACT []
synonym: "hypothalamic hamartoblastoma syndromes" EXACT []
synonym: "PHS" EXACT []
xref: GARD:7305
xref: MESH:D054975
xref: NCI:C84987
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:1148 ! polydactyly
is_a: DOID:225 ! syndrome
is_a: DOID:3644 ! hypothalamic neoplasm
is_a: DOID:9007253 ! Hamartoma
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9249
name: Beemer-Langer syndrome
alt_id: MIM:269860
def: "A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. (DO)" [http://en.wikipedia.org/wiki/Short_rib_%E2%80%93_polydactyly_syndrome "DO", http://www.springerlink.com/content/e0hmfh4fcl7m4kjw/ "DO"]
synonym: "short rib-polydactyly syndrome, Beemer type" EXACT []
synonym: "short rib-polydactyly syndrome, type 4" EXACT []
synonym: "short rib-polydactyly syndrome, type IV" EXACT []
synonym: "short rib syndrome, Beemer type" EXACT []
synonym: "short-rib thoracic dysplasia 12" EXACT []
synonym: "SRPS IV" EXACT []
synonym: "SRPS, type 4" EXACT []
synonym: "SRTD12" EXACT []
xref: MESH:C537599
is_a: DOID:0050592 ! asphyxiating thoracic dystrophy
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9250
name: acrocallosal syndrome
alt_id: MESH:C538177
alt_id: MIM:200990
def: "A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. (DO)" [http://en.wikipedia.org/wiki/Acrocallosal_syndrome "DO"]
synonym: "ACLS" EXACT []
synonym: "Acrocallosal syndromes" EXACT []
synonym: "acrocallosal syndrome, Schinzel type" EXACT []
synonym: "hallux duplication, postaxial polydactyly, and absence of corpus callosum" EXACT []
synonym: "Joubert syndrome 12/15, digenic" NARROW []
synonym: "SCHINZEL ACROCALLOSAL SYNDROME" EXACT []
synonym: "SCHINZEL ACROCALLOSAL SYNDROME JOUBERT SYNDROME 12" NARROW []
synonym: "Schinzel syndrome 1" EXACT []
xref: GARD:5721
xref: MESH:D055673
xref: NCI:C84531
is_a: DOID:0080578 ! digenic disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001999 ! Agenesis of Corpus Callosum

[Term]
id: DOID:9252
name: amino acid metabolic disorder
def: "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. (DO)" [http://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism "DO"]
synonym: "Amino Acid Metabolism, Inborn Error" EXACT []
synonym: "amino acid metabolism, inborn errors" EXACT []
synonym: "Amino Acid Metabolism, Inherited Disorders" EXACT []
synonym: "Congenital Amino Acidopathies" EXACT []
synonym: "Congenital Amino Acidopathy" EXACT []
synonym: "inborn amino acid metabolism disorders" EXACT []
synonym: "Inborn Amino Acidopathies" EXACT []
synonym: "inborn amino acidopathy" EXACT []
synonym: "inborn errors of amino acid metabolism" EXACT []
synonym: "inherited errors of amino acid metabolism" EXACT []
xref: GARD:5793
xref: ICD10CM:E72.9
xref: ICD9CM:270
xref: MESH:D000592
xref: NCI:C97090
is_a: DOID:655 ! inherited metabolic disorder

[Term]
id: DOID:9253
name: gastrointestinal stromal tumor
alt_id: MIM:606764
alt_id: OMIA:001516
def: "All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA)." [MESH:D046152]
synonym: "Colorectal Gastrointestinal Stromal Tumor" NARROW []
synonym: "GANT" EXACT []
synonym: "Gastrointestinal Stromal Neoplasm" EXACT []
synonym: "gastrointestinal stromal neoplasms" EXACT []
synonym: "Gastrointestinal Stromal Sarcoma" EXACT []
synonym: "Gastrointestinal stromal tumor, familial" NARROW []
synonym: "GASTROINTESTINAL STROMAL TUMOR OF SMALL INTESTINE" NARROW []
synonym: "gastrointestinal stromal tumors" EXACT []
synonym: "GASTROINTESTINAL STROMAL TUMOR, SOMATIC" NARROW []
synonym: "gastrointestinal stromal tumour" EXACT []
synonym: "GASTROINTESTINAL STROMA TUMOR" EXACT []
synonym: "GIST" EXACT []
synonym: "SMALL INTESTINAL GASTROINTESTINAL STROMAL TUMOR" NARROW []
synonym: "stromal tumor of gastrointestinal tract" EXACT []
synonym: "stromal tumour of gastrointestinal tract" EXACT []
xref: EFO:0000505
xref: EFO:1000192
xref: GARD:8598
xref: ICD10CM:C49.A
xref: ICDO:8936/3
xref: MESH:D046152
xref: MONDO:0011719
xref: NCI:C158783
xref: NCI:C3868
is_a: DOID:3119 ! gastrointestinal system cancer
is_a: DOID:9003944 ! Connective Tissue Neoplasms
is_a: DOID:9006796 ! Gastrointestinal Neoplasms

[Term]
id: DOID:9254
name: mast-cell leukemia
def: "A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. (DO)" [http://medical-dictionary.thefreedictionary.com/mast+cell+leukemia "DO"]
synonym: "Mast-Cell Leukemias" EXACT []
xref: EFO:0007359
xref: ICD10CM:C94.3
xref: ICDO:9742/3
xref: MESH:D007946
xref: NCI:C3169
is_a: DOID:349 ! systemic mastocytosis
is_a: DOID:3664 ! mast cell neoplasm
is_a: DOID:9119 ! acute myeloid leukemia

[Term]
id: DOID:9255
name: frontotemporal dementia
def: "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. (DO)" [http://en.wikipedia.org/wiki/Frontotemporal_dementia "DO", http://www.mayoclinic.org/diseases-conditions/frontotemporal-dementia/basics/definition/con-20023876 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21121521 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract "DO"]
synonym: "DDPAC" EXACT []
synonym: "disinhibition dementia parkinsonism amyotrophy complex" EXACT []
synonym: "Disinhibition Dementia Parkinsonism Amytrophy Complex" EXACT []
synonym: "Familial Pick's Disease" EXACT []
synonym: "Familial Pick Disease" EXACT []
synonym: "Familial Picks Disease" EXACT []
synonym: "FLDEM" EXACT []
synonym: "frontotemporal dementia 1" EXACT []
synonym: "frontotemporal dementias" EXACT []
synonym: "Frontotemporal Dementia with Parkinsonism" EXACT []
synonym: "Frontotemporal Dementia with Parkinsonism 17" EXACT []
synonym: "FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS" EXACT []
synonym: "Frontotemporal Lobe Dementia" EXACT []
synonym: "Frontotemporal Lobe Dementia (FLDEM)" EXACT []
synonym: "Frontotemporal Lobe Dementias" EXACT []
synonym: "Frontotemporal Lobe Dementias (FLDEM)" EXACT []
synonym: "FTD" EXACT []
synonym: "FTD1" EXACT []
synonym: "FTD-GRN" EXACT []
synonym: "FTDP-17" EXACT []
synonym: "FTDP17" EXACT []
synonym: "FTD-PGRN" EXACT []
synonym: "FTLD-17 GRN" EXACT []
synonym: "FTLD-TDP" EXACT []
synonym: "FTLD WITH TAU INCLUSIONS" EXACT []
synonym: "FTLD with TDP 43 Pathology" EXACT []
synonym: "GRN Related Frontotemporal Dementia" EXACT []
synonym: "GRN-Related Frontotemporal Dementias" EXACT []
synonym: "HDDD1" EXACT []
synonym: "HDDD2" EXACT []
synonym: "Hereditary Dysphasic Disinhibition Dementia" EXACT []
synonym: "MSTD" EXACT []
synonym: "multiple system tauopathy with presenile dementia" EXACT []
synonym: "PALLIDOPONTONIGRAL DEGENERATION" NARROW []
synonym: "PPND PICK COMPLEX" NARROW []
synonym: "semantic dementia" EXACT []
synonym: "semantic dementias" EXACT []
synonym: "Wilhelmsen Lynch disease" EXACT []
synonym: "Wilhemsen-Lynch disease" EXACT []
synonym: "WLD" EXACT []
xref: GARD:8436
xref: MESH:D057180
xref: MIM:600274
xref: MONDO:0017276
xref: NCI:C84719
xref: ORDO:282
is_a: DOID:679 ! basal ganglia disease
is_a: DOID:9002031 ! Frontotemporal Lobar Degeneration

[Term]
id: DOID:9256
name: colorectal cancer
alt_id: MIM:114500
alt_id: MIM:608812
alt_id: MIM:611469
alt_id: MIM:612229
alt_id: MIM:612230
alt_id: MIM:612231
alt_id: MIM:612232
alt_id: MIM:612589
alt_id: MIM:612590
alt_id: MIM:612592
alt_id: MIM:615083
def: "A large intestine cancer that is located_in the colon and/or located_in the rectum. (DO)" [http://www.cancer.gov/dictionary?CdrID=444983 "DO"]
synonym: "AXIN2-RELATED DISORDER" BROAD []
synonym: "COLORECTAL ADENOMA AND CANCER, SUSCEPTIBILITY TO" RELATED []
synonym: "COLORECTAL CANCER 1" NARROW []
synonym: "Colorectal cancer, increased risk, assoc. with" RELATED []
synonym: "colorectal cancers" EXACT []
synonym: "colorectal cancer, susceptibility to" RELATED []
synonym: "colorectal cancer, susceptibility to, 1" RELATED []
synonym: "colorectal cancer, susceptibility to, 11" RELATED []
synonym: "colorectal cancer, susceptibility to, 12" RELATED []
synonym: "colorectal cancer, susceptibility to, 2" RELATED []
synonym: "colorectal cancer, susceptibility to, 3" RELATED []
synonym: "colorectal cancer, susceptibility to, 5" RELATED []
synonym: "colorectal cancer, susceptibility to, 6" RELATED []
synonym: "colorectal cancer, susceptibility to, 7" RELATED []
synonym: "colorectal cancer, susceptibility to, 8" RELATED []
synonym: "colorectal cancer, susceptibility to, 9" RELATED []
synonym: "colorectal cancer, susceptibility to, on chromosome 11" RELATED []
synonym: "colorectal cancer, susceptibility to, on chromosome 12q24" RELATED []
synonym: "colorectal cancer, susceptibility to, on chromosome 14q" RELATED []
synonym: "colorectal cancer, susceptibility to, on chromosome 16q" RELATED []
synonym: "colorectal cancer, susceptibility to, on chromosome 18" RELATED []
synonym: "colorectal cancer, susceptibility to, on chromosome 20p" RELATED []
synonym: "colorectal cancer, susceptibility to, on chromosome 8q23" RELATED []
synonym: "colorectal cancer, susceptibility to, on chromosome 8q24" RELATED []
synonym: "colorectal cancer, susceptibility to, on chromosome 9" RELATED []
synonym: "COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY" RELATED []
synonym: "COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY, SOMATIC" NARROW []
synonym: "CRC" EXACT []
synonym: "CRCS1" RELATED []
synonym: "CRCS11" RELATED []
synonym: "CRCS12" RELATED []
synonym: "CRCS2" RELATED []
synonym: "CRCS3" RELATED []
synonym: "CRCS5" RELATED []
synonym: "CRCS6" RELATED []
synonym: "CRCS7" RELATED []
synonym: "CRCS8" RELATED []
synonym: "CRCS9" RELATED []
synonym: "DLC1-RELATED CONDITION" NARROW []
synonym: "FAMILIAL COLORECTAL CANCER" NARROW []
synonym: "malignant colorectal neoplasm" EXACT []
xref: EFO:0005842
xref: ICD10CM:C18.9
xref: NCI:C2956
xref: NCI:C4978
is_a: DOID:5672 ! large intestine cancer
is_a: DOID:9008443 ! Colorectal Neoplasms
created_by: rgd
creation_date: 2017-09-13T00:00:00Z

[Term]
id: DOID:9258
name: Waardenburg syndrome
def: "A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. (DO)" [http://en.wikipedia.org/wiki/Waardenburg_syndrome "DO", http://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract "DO"]
synonym: "Klein's syndrome" EXACT []
synonym: "Kleins syndrome" EXACT []
synonym: "Klein Syndrome" EXACT []
synonym: "van der Hoeve Halbertsona Waardenburg syndrome" EXACT []
synonym: "Waardenburg's syndrome" EXACT []
synonym: "Waardenburg Shah syndrome" EXACT []
synonym: "Waardenburgs syndrome" EXACT []
synonym: "Waardenburg, types I and/or II" NARROW []
synonym: "White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations" EXACT []
xref: GARD:5525
xref: MESH:D014849
xref: MIM:PS193500
xref: NCI:C75008
xref: NCI:C85222
xref: ORDO:3440
xref: ORDO:895
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9261
name: nasopharynx carcinoma
alt_id: MIM:161550
alt_id: MIM:617075
def: "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. (DO)" [http://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma "DO"]
synonym: "cancer of nasopharynx" EXACT []
synonym: "cancer of the nasopharynx" EXACT []
synonym: "carcinoma of nasopharynx" RELATED []
synonym: "malignant nasopharyngeal tumor" EXACT []
synonym: "malignant neoplasm of nasopharynx" EXACT []
synonym: "nasopharyngeal cancer" EXACT []
synonym: "nasopharyngeal cancers" EXACT []
synonym: "nasopharyngeal carcinoma" EXACT []
synonym: "nasopharyngeal carcinoma, susceptibility to, 1" RELATED []
synonym: "nasopharyngeal carcinoma, susceptibility to, 2" RELATED []
synonym: "nasopharyngeal carcinoma, susceptibility to, 3" RELATED []
synonym: "nasopharynx cancer" EXACT []
synonym: "NPC" EXACT []
synonym: "NPCA" EXACT []
synonym: "NPCA1" RELATED []
synonym: "NPCA2" RELATED []
synonym: "NPCA3" RELATED []
xref: GARD:7163
xref: ICD10CM:C11
xref: ICD10CM:C11.0
xref: ICD10CM:C11.1
xref: ICD10CM:C11.2
xref: ICD10CM:C11.3
xref: ICD9CM:147
xref: ICD9CM:147.0
xref: ICD9CM:147.1
xref: ICD9CM:147.2
xref: ICD9CM:147.3
xref: MIM:607107
xref: NCI:C3871
xref: NCI:C9321
xref: ORDO:150
is_a: DOID:0050615 ! respiratory system cancer
is_a: DOID:0060119 ! pharynx cancer
is_a: DOID:305 ! carcinoma
is_a: DOID:9005207 ! Nasopharyngeal Neoplasms

[Term]
id: DOID:9263
name: homocystinuria
alt_id: MIM:236200
def: "An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. (DO)" [http://en.wikipedia.org/wiki/Homocystinuria "DO"]
synonym: "CBS Deficiencies" EXACT []
synonym: "CBS Deficiency" EXACT []
synonym: "CBS Deficiency Hyperhomocysteinemia, Thrombotic, CBS-Related" NARROW []
synonym: "CBS-RELATED CONDITION" EXACT []
synonym: "Cystathionine Beta Synthase Deficiency" EXACT []
synonym: "Cystathionine beta Synthase Deficiency Disease" EXACT []
synonym: "cystathionine synthase deficiency" EXACT []
synonym: "HOMOCYSTINURIA DUE TO CBS DEFICIENCY" EXACT []
synonym: "HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY" EXACT []
synonym: "Homocystinuria, Pyridoxine-Nonresponsive" EXACT []
synonym: "HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE" EXACT []
synonym: "HOMOCYSTINURIA WITHOUT METHYLMALONIC ACIDURIA" NARROW []
synonym: "thrombotic hyperhomocysteinemia, CBS-related" EXACT []
xref: GARD:10770
xref: ICD10CM:E72.11
xref: MESH:D006712
xref: NCI:C84765
xref: ORDO:394
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9252 ! amino acid metabolic disorder
is_a: DOID:9279 ! hyperhomocysteinemia

[Term]
id: DOID:9265
name: histidine metabolism disease
def: "An amino acid metabolic disorder that involves deficiency in histidine. (DO)" [http://en.wikipedia.org/wiki/Histidine#Metabolism "DO"]
synonym: "disturbances of histidine metabolism" EXACT []
xref: ICD10CM:E70.4
xref: ICD9CM:270.5
is_a: DOID:9252 ! amino acid metabolic disorder
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:9266
name: cystinuria
alt_id: MESH:C531664
alt_id: MESH:C565652
alt_id: MIM:220100
alt_id: OMIA:000256
alt_id: OMIA:001879
alt_id: OMIA:001880
def: "An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. (DO)" [http://en.wikipedia.org/wiki/Cystinuria "DO"]
synonym: "CSNU" EXACT []
synonym: "CSNU1" EXACT []
synonym: "CSNU3" EXACT []
synonym: "cystine urolithiasis" RELATED []
synonym: "cystinurias" EXACT []
synonym: "cystinuria type 1" NARROW []
synonym: "cystinuria type A" NARROW []
synonym: "cystinuria type A/B" NARROW []
synonym: "cystinuria type A-B" NARROW []
synonym: "cystinuria type B" NARROW []
synonym: "cystinuria type I" NARROW []
synonym: "cystinuria type I - A" NARROW []
synonym: "cystinuria type II" NARROW []
synonym: "cystinuria type II - A" NARROW []
synonym: "cystinuria type II - B" NARROW []
synonym: "cystinuria type III" NARROW []
synonym: "cystinuria type NON-I" NARROW []
synonym: "SLC7A9-RELATED CONDITION" NARROW []
xref: EFO:0010826
xref: GARD:6237
xref: ICD10CM:E72.01
xref: MESH:D003555
xref: NCI:C84664
xref: ORDO:214
is_a: DOID:0080653 ! urolithiasis
is_a: DOID:1426 ! ureteral disease
is_a: DOID:365 ! bladder disease
is_a: DOID:9002207 ! Renal Aminoacidurias
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9267
name: urea cycle disorder
def: "An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. (DO)" [http://en.wikipedia.org/wiki/Urea_cycle_disorder "DO"]
synonym: "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia" EXACT []
synonym: "disorder of urea cycle metabolism" EXACT []
synonym: "inborn urea cycle disorder" EXACT []
synonym: "inborn urea cycle disorders" EXACT []
synonym: "urea cycle defect" EXACT []
synonym: "urea cycle disorders" EXACT []
xref: GARD:7837
xref: ICD10CM:E72.2
xref: ICD9CM:270.6
xref: MESH:D056806
xref: NCI:C84785
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9268
name: glycine encephalopathy
def: "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. (DO)" [http://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia "DO"]
synonym: "GCE" EXACT []
synonym: "glycine encephalopathies" EXACT []
synonym: "NKH HYPERGLYCINEMIA, TRANSIENT NEONATAL" NARROW []
synonym: "Non ketotic Hyperglycinemia" EXACT []
synonym: "nonketotic hyperglycinemia" EXACT []
synonym: "Non-ketotic Hyperglycinemias" EXACT []
synonym: "Nonketotic Hyperglycinemias" EXACT []
synonym: "TNH" NARROW []
synonym: "type III nonketotic hyperglycinemia" EXACT []
synonym: "type II nonketotic hyperglycinemia" EXACT []
synonym: "type I nonketotic hyperglycinemia" EXACT []
xref: GARD:7219
xref: ICD10CM:E72.51
xref: MESH:D020158
xref: MIM:PS605899
xref: NCI:C84937
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9269
name: maple syrup urine disease
def: "An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease "DO"]
synonym: "BCKD deficiency" EXACT []
synonym: "Branched Chain alpha Keto Acid Dehydrogenase Deficiency" EXACT []
synonym: "Branched Chain Ketoaciduria" EXACT []
synonym: "Branched-Chain Ketoacidurias" EXACT []
synonym: "Classical Maple Syrup Urine Disease" EXACT []
synonym: "Classic Maple Syrup Urine Disease" EXACT []
synonym: "ketoacidaemia" EXACT []
synonym: "Keto Acid Decarboxylase Deficiency" EXACT []
synonym: "maple syrup urine disease, intermediate" NARROW []
synonym: "maple syrup urine disease, intermittent" NARROW []
synonym: "maple syrup urine disease, mild variant" NARROW []
synonym: "maple syrup urine disease, thiamine-responsive" NARROW []
synonym: "MSUD" EXACT []
synonym: "MSUD (maple syrup urine disease)" EXACT []
synonym: "MSUDMV" EXACT []
xref: GARD:3228
xref: ICD10CM:E71.0
xref: MESH:D008375
xref: MIM:615135
xref: MIM:PS248600
xref: MONDO:0009563
xref: NCI:C34806
xref: ORDO:511
is_a: DOID:0060159 ! organic acidemia
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9270
name: alkaptonuria
alt_id: MIM:203500
def: "An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. (DO)" [http://en.wikipedia.org/wiki/Alkaptonuria "DO"]
synonym: "AKU" EXACT []
synonym: "Alcaptonuria" EXACT []
synonym: "Alcaptonurias" EXACT []
synonym: "deficiency of homogentisicase" RELATED []
synonym: "homogentisate 1,2-dioxygenase deficiency" EXACT []
synonym: "Homogentisic Acid Oxidase Deficiency" EXACT []
synonym: "Homogentisic Acidura" EXACT []
xref: GARD:5775
xref: MESH:D000474
xref: MONDO:0008753
xref: NCI:C84546
xref: ORDO:56
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9271
name: ornithine carbamoyltransferase deficiency
alt_id: MIM:311250
def: "An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. (DO)" [http://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency "DO"]
synonym: "deficiency disease, ornithine carbamoyltransferase" EXACT []
synonym: "deficiency of citrulline phosphorylase" EXACT []
synonym: "Ornithine Transcarbamylase Deficiencies" EXACT []
synonym: "Ornithine Transcarbamylase Deficiency" EXACT []
synonym: "Ornithine Transcarbamylase Deficiency Disease" EXACT []
synonym: "ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO" EXACT []
synonym: "OTC Deficiencies" EXACT []
synonym: "OTC deficiency" EXACT []
synonym: "OTC DEFICIENCY VALPROATE SENSITIVITY" NARROW []
synonym: "OTC-RELATED CONDITION" EXACT []
xref: EFO:0007409
xref: GARD:8391
xref: ICD10CM:E72.4
xref: MESH:D020163
xref: NCI:C84957
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:9008972 ! Hyperammonemia
is_a: DOID:9267 ! urea cycle disorder

[Term]
id: DOID:9273
name: citrullinemia
def: "An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood. (DO)" [http://en.wikipedia.org/wiki/Citrullinemia "DO"]
synonym: "argininosuccinic acid synthase deficiency disease" EXACT []
synonym: "argininosuccinic acid synthetase deficiency" EXACT []
synonym: "Argininosuccinic Acid Synthetase Deficiency, Complete" EXACT []
synonym: "Argininosuccinic Acid Synthetase Deficiency Disease" EXACT []
synonym: "argininosuccinic acid synthetase deficiency disease, partial" EXACT []
synonym: "argininosuccinic acid synthetase deficiency, partial" EXACT []
synonym: "CITRULLINEMIA, MILD" NARROW []
synonym: "citrullinemias" EXACT []
synonym: "citrullinuria" EXACT []
synonym: "citrullinurias" EXACT []
synonym: "complete argininosuccinic acid synthetase deficiency disease" EXACT []
synonym: "deficiency of citrulline-aspartate ligase" EXACT []
xref: ICD10CM:E72.23
xref: MESH:D020159
xref: NCI:C84639
xref: ORDO:187
is_a: DOID:9267 ! urea cycle disorder

[Term]
id: DOID:9274
name: hyperlysinemia
alt_id: MIM:238700
alt_id: MIM:238750
def: "An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. (DO)" [http://en.wikipedia.org/wiki/Hyperlysinemia "DO"]
synonym: "Familial Hyperlysinemia" EXACT []
synonym: "familial hyperlysinemias" EXACT []
synonym: "hyperlysinemias" EXACT []
synonym: "HYPERLYSINEMIA, TYPE I" EXACT []
synonym: "Hyperlysinuria With Hyperammonemia" EXACT []
synonym: "L-Lysine:NAD-oxido-reductase deficiencies" EXACT []
synonym: "L Lysine:NAD Oxido Reductase Deficiency" EXACT []
synonym: "lysine:alpha-ketoglutarate reductase deficiencies" EXACT []
synonym: "Lysine:Alpha Ketoglutarate Reductase Deficiency" EXACT []
synonym: "Lysine Alpha Ketoglutarate Reductase Deficiency Disease" EXACT []
synonym: "lysine intolerance" EXACT []
synonym: "periodic hyperlysinemia" EXACT []
synonym: "periodic hyperlysinemias" EXACT []
xref: GARD:2828
xref: ICD10CM:E72.3
xref: MESH:D020167
xref: NCI:C123433
xref: ORDO:2203
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9275
name: tyrosinemia
def: "An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. (DO)" [http://en.wikipedia.org/wiki/Tyrosinemia "DO"]
synonym: "FAH deficiency" EXACT []
synonym: "fumarylacetoacetase deficiencies" EXACT []
synonym: "fumarylacetoacetase deficiency" EXACT []
synonym: "fumarylacetoacetase deficiency disease" EXACT []
synonym: "fumarylacetoacetase deficiency diseases" EXACT []
synonym: "Hereditary Tyrosinemia" EXACT []
synonym: "hereditary tyrosinemias" EXACT []
synonym: "Hypertyrosinemia" EXACT []
synonym: "Keratosis Palmoplantaris with Corneal Dystrophy" EXACT []
synonym: "oculocutaneous type tyrosinoses" EXACT []
synonym: "Oculocutaneous Type Tyrosinosis" EXACT []
synonym: "Oregon type tyrosinemia" EXACT []
synonym: "TAT deficiency" EXACT []
synonym: "tyrosine aminotransferase deficiency" EXACT []
synonym: "tyrosinemias" EXACT []
synonym: "tyrosine transaminase deficiency" EXACT []
synonym: "tyrosine transaminase deficiency disease" EXACT []
xref: ICD10CM:E70.21
xref: MESH:D020176
xref: MIM:PS276700
xref: NCI:C98640
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9277
name: primary cerebellar degeneration
alt_id: MIM:248800
def: "A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked." [MESH:D013132]
synonym: "corticostriatal spinal degeneration" EXACT []
synonym: "corticostriatal-spinal degenerations" EXACT []
synonym: "Early Onset Cerebellar Ataxia" EXACT []
synonym: "Familial Spinocerebellar Degeneration" EXACT []
synonym: "familial spinocerebellar degenerations" EXACT []
synonym: "Hereditary Ataxia" EXACT []
synonym: "Hereditary Ataxias" EXACT []
synonym: "Hereditary Spinocerebellar Degeneration" EXACT []
synonym: "Hereditary Spinocerebellar Degenerations" EXACT []
synonym: "Inherited Spinocerebellar Degeneration" EXACT []
synonym: "Inherited Spinocerebellar Degenerations" EXACT []
synonym: "Late Onset Cerebellar Ataxia" EXACT []
synonym: "Marie's Cerebellar Ataxia" EXACT []
synonym: "Marie Cerebellar Ataxia" EXACT []
synonym: "MSS" EXACT []
synonym: "Primary Cerebellar Degenerations" EXACT []
synonym: "SENSORIMOTOR NEUROPATHY" NARROW []
synonym: "Spino Cerebellar Degeneration" EXACT []
synonym: "spinocerebellar degeneration" EXACT []
synonym: "spino cerebellar degenerations" EXACT []
synonym: "spinocerebellar degenerations" EXACT []
synonym: "spinocerebellar disease" EXACT []
synonym: "spinocerebellar diseases" EXACT []
xref: ICD9CM:334.2
xref: MESH:D013132
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:2786 ! cerebellar disease
is_a: DOID:319 ! spinal cord disease
is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders

[Term]
id: DOID:9278
name: hyperargininemia
alt_id: MIM:207800
def: "An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. (DO)" [https://www.medlink.com/articles/hyperargininemia "DO"]
synonym: "ARG1 deficiencies" EXACT []
synonym: "ARG1 Deficiency" EXACT []
synonym: "arginase deficiencies" EXACT []
synonym: "Arginase Deficiency" EXACT []
synonym: "Arginase Deficiency Disease" EXACT []
synonym: "arginase deficiency diseases" EXACT []
synonym: "argininemia" EXACT []
synonym: "deficiency of canavanase" EXACT []
synonym: "hyperargininemias" EXACT []
xref: ICD10CM:E72.21
xref: MESH:D020162
xref: NCI:C84568
is_a: DOID:9267 ! urea cycle disorder

[Term]
id: DOID:9279
name: hyperhomocysteinemia
alt_id: MESH:C566403
alt_id: MIM:603174
def: "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. (DO)" [http://en.wikipedia.org/wiki/Hyperhomocysteinemia "DO"]
synonym: "Homocysteinemia" EXACT []
synonym: "HOMOCYSTEINE, TOTAL PLASMA, ELEVATED" EXACT []
synonym: "hyperhomocysteinaemia" EXACT []
synonym: "hyperhomocysteinemias" EXACT []
xref: MESH:D020138
xref: NCI:C84770
is_a: DOID:9002785 ! Vitamin B Deficiency
is_a: DOID:9002984 ! Malabsorption Syndromes
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9280
name: carbamoyl phosphate synthetase I deficiency disease
alt_id: MIM:237300
def: "A urea cycle disorder that involves accumulation of ammonia in the blood. (DO)" [http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency "DO"]
synonym: "Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease" EXACT []
synonym: "carbamoyl phosphate synthase 1 deficiency" EXACT []
synonym: "carbamoyl phosphate synthase 1 deficiency disease" EXACT []
synonym: "Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)" EXACT []
synonym: "CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY" EXACT []
synonym: "Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)" EXACT []
synonym: "Carbamoylphosphate Synthetase 1 Deficiency Disease" EXACT []
synonym: "Carbamoyl Phosphate Synthetase I Deficiency" EXACT []
synonym: "Carbamoylphosphate Synthetase I Deficiency Disease" EXACT []
synonym: "Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To" EXACT []
synonym: "Carbamyl Phosphate Synthetase (CPS) Deficiency" EXACT []
synonym: "Carbamyl Phosphate Synthetase 1 Deficiency Disease" EXACT []
synonym: "Carbamyl Phosphate Synthetase Deficiency Disease" EXACT []
synonym: "Carbamyl Phosphate Synthetase I Deficiency Disease" EXACT []
synonym: "CONGENITAL HYPERAMMONEMIA, TYPE I" EXACT []
synonym: "CPS 1 Deficiencies" EXACT []
synonym: "CPS 1 Deficiency" EXACT []
synonym: "CPS I Deficiencies" EXACT []
synonym: "CPS I deficiency" EXACT []
synonym: "hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency" EXACT []
xref: EFO:0007193
xref: GARD:7269
xref: MESH:D020165
xref: NCI:C84612
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:700 ! mitochondrial metabolism disease
is_a: DOID:9267 ! urea cycle disorder

[Term]
id: DOID:9281
name: phenylketonuria
alt_id: MIM:261600
def: "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. (DO)" [http://en.wikipedia.org/wiki/Phenylketonuria "DO", https://www.genome.gov/Genetic-Disorders/Phenylketonuria "DO"]
synonym: "atypical phenylketonuria" EXACT []
synonym: "atypical PKU" EXACT []
synonym: "BH4 deficiency" EXACT []
synonym: "BH4-DEFICIENT HYPERPHENYLALANINEMIA" NARROW []
synonym: "classical phenylketonuria" EXACT []
synonym: "Folling's disease" EXACT []
synonym: "Folling Disease" EXACT []
synonym: "HPA, NON-PKU MILD" NARROW []
synonym: "Hyperphenylalaninaemia" EXACT []
synonym: "Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism" EXACT []
synonym: "HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT" NARROW []
synonym: "Hyperphenylalaninemia, non-pku" EXACT []
synonym: "HYPERPHENYLALANINEMIA, NON-PKU MILD" NARROW []
synonym: "maternal phenylketonuria" NARROW []
synonym: "Non Phenylketonuric Hyperphenylalaninemia" EXACT []
synonym: "non-phenylketonuric hyperphenylalaninemias" EXACT []
synonym: "Oligophrenia Phenylpyruvica" EXACT []
synonym: "PAH deficiency" EXACT []
synonym: "phenylalanine hydroxylase deficiency" EXACT []
synonym: "phenylalanine hydroxylase deficiency disease" EXACT []
synonym: "phenylalanine hydroxylase deficiency disease, severe" EXACT []
synonym: "phenylalaninemia" EXACT []
synonym: "phenylketonuria I" EXACT []
synonym: "phenylketonuria II" EXACT []
synonym: "phenylketonurias" EXACT []
synonym: "phenylketonuria type 2" EXACT []
synonym: "PKU" EXACT []
synonym: "tetrahydrobiopterin deficiency" EXACT []
xref: GARD:7383
xref: ICD9CM:270.1
xref: MESH:D010661
xref: NCI:C81315
xref: ORDO:716
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn
is_a: DOID:9252 ! amino acid metabolic disorder

[Term]
id: DOID:9282
name: ocular hypertension
def: "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss. (DO)" [https://en.wikipedia.org/wiki/Ocular_hypertension "DO"]
synonym: "ocular hypertensions" EXACT []
synonym: "Suspect Glaucoma" EXACT []
synonym: "suspect glaucomas" EXACT []
xref: EFO:1001069
xref: ICD10CM:H40.05
xref: ICD9CM:365.04
xref: MESH:D009798
xref: NCI:C3285
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:9283
name: borderline glaucoma
def: "A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055310/ "DO"]
synonym: "preglaucoma" EXACT []
xref: ICD10CM:H40.00
xref: ICD9CM:365.00
is_a: DOID:1686 ! glaucoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9286
name: priapism
def: "A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. (DO)" [http://en.wikipedia.org/wiki/Priapism "DO", http://my.clevelandclinic.org/disorders/priapism/hic_priapism.aspx "DO"]
synonym: "mentulagra" EXACT []
synonym: "priapisms" EXACT []
xref: GARD:10016
xref: ICD10CM:N48.3
xref: ICD9CM:607.3
xref: MESH:D011317
xref: NCI:C85022
is_a: DOID:1529 ! penile disease
is_a: DOID:341 ! peripheral vascular disease

[Term]
id: DOID:929
name: myopathy of extraocular muscle
synonym: "myopathy of extraocular muscles" EXACT []
xref: ICD10CM:H05.82
xref: ICD9CM:376.82
is_a: DOID:423 ! myopathy
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:9296
name: cleft lip
alt_id: OMIA:001140
def: "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. (DO)" [https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate "DO", https://www.cdc.gov/ncbddd/birthdefects/cleftlip.html "DO"]
synonym: "cheiloschisis" EXACT []
synonym: "CLEFT LIP +/- CLEFT PALATE, AUTOSOMAL DOMINANT" NARROW []
synonym: "Cleft Lips" EXACT []
synonym: "Cleft lip with or without cleft palate" EXACT []
synonym: "complete unilateral cleft lip" EXACT []
synonym: "Harelip" EXACT []
synonym: "hare lip" EXACT []
synonym: "Harelips" EXACT []
synonym: "labium leporinum" EXACT []
synonym: "nonsyndromic cleft lip with or without cleft palate" NARROW []
xref: EFO:0003959
xref: ICD10CM:Q36
xref: ICD9CM:749.1
xref: ICD9CM:749.11
xref: MESH:D002971
xref: NCI:C87175
is_a: DOID:0050567 ! orofacial cleft
is_a: DOID:9001018 ! Mouth Abnormalities
is_a: DOID:9297 ! lip disease

[Term]
id: DOID:9297
name: lip disease
def: "A mouth disease located_in the lip. (DO)" [https://www.merckmanuals.com/home/mouth-and-dental-disorders/lip-and-tongue-disorders/lip-sores-lip-inflammation-and-other-changes "DO"]
synonym: "disease of lips" EXACT []
synonym: "lip diseases" EXACT []
xref: ICD10CM:K13.0
xref: ICD9CM:528.5
xref: MESH:D008047
xref: NCI:C26818
is_a: DOID:403 ! mouth disease

[Term]
id: DOID:9299
name: myocardium cancer
synonym: "malignant myocardial tumor" EXACT []
synonym: "malignant neoplasm of myocardium" EXACT []
synonym: "tumor of myocardium" EXACT []
xref: MONDO:0004749
xref: NCI:C4569
xref: NCI:C5349
is_a: DOID:117 ! heart cancer
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:93
name: language disorder
def: "A communication disorder that involves the processing of linguistic information. (DO)" [http://en.wikipedia.org/wiki/Language_disorder "DO"]
synonym: "acquired language disorder" EXACT []
synonym: "acquired language disorders" EXACT []
synonym: "language disorders" EXACT []
xref: EFO:0005425
xref: MESH:D007806
xref: NCI:C97155
is_a: DOID:2033 ! communication disorder

[Term]
id: DOID:930
name: orbital disease
alt_id: DOID:9370
alt_id: MESH:D005094
def: "An adnexa disease that is located_in the eye socket. (DO)" [http://www.hopkinsmedicine.org/wilmer/services/oculofacial_plastic_surgery/reconstructive/orbital_disease.html "DO"]
synonym: "disease of orbital region" BROAD []
synonym: "exophthalmos" EXACT []
synonym: "orbital diseases" EXACT []
synonym: "proptoses" EXACT []
synonym: "proptosis" EXACT []
xref: EFO:0009664
xref: ICD10CM:H05.9
xref: ICD9CM:376.9
xref: MESH:D009916
xref: NCI:C118763
xref: NCI:C87114
is_a: DOID:0080001 ! bone disease
is_a: DOID:5614 ! eye disease
is_a: DOID:9001010 ! eye adnexa disease

[Term]
id: DOID:9300
name: neurofibroma of the heart
synonym: "neurofibroma of heart" EXACT []
xref: NCI:C5359
is_a: DOID:117 ! heart cancer
is_a: DOID:962 ! neurofibroma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:9305
name: splenic tuberculosis
def: "An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen. (DO)" [https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"]
synonym: "Splenic Tuberculoses" EXACT []
xref: EFO:0007492
xref: ICD10CM:A18.85
xref: ICD9CM:017.7
xref: MESH:D014400
is_a: DOID:0050599 ! abdominal tuberculosis
is_a: DOID:2529 ! splenic disease

[Term]
id: DOID:9306
name: mechanical strabismus
xref: ICD10CM:H50.6
xref: ICD9CM:378.6
is_a: DOID:540 ! strabismus
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9307
name: rectal prolapse
alt_id: RDO:0006461
def: "Protrusion of the rectal mucous membrane through the anus. There are various degrees: incomplete with no displacement of the anal sphincter muscle; complete with displacement of the anal sphincter muscle; complete with no displacement of the anal sphincter muscle but with herniation of the bowel; and internal complete with rectosigmoid or upper rectum intussusception into the lower rectum." [MESH:D012005]
synonym: "anus prolapse" EXACT []
synonym: "anus prolapses" EXACT []
synonym: "rectal prolapses" EXACT []
synonym: "rectum procidentia" EXACT []
xref: ICD10CM:K62.3
xref: ICD9CM:569.1
xref: MESH:D012005
xref: NCI:C34973
is_a: DOID:1285 ! rectal disease
is_a: DOID:9008409 ! Pelvic Organ Prolapse

[Term]
id: DOID:931
name: monieziasis
def: "A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15287174 "DO"]
synonym: "monieziases" EXACT []
xref: EFO:1001372
xref: MESH:D008989
is_a: DOID:9006372 ! Animal Helminthiasis
is_a: DOID:9006970 ! Cestode Infections

[Term]
id: DOID:9310
name: nasal cavity benign neoplasm
def: "A respiratory system benign neoplasm that arises from the nasal cavity. (DO)" [https://www.mayoclinic.org/diseases-conditions/nasal-paranasal-tumors/symptoms-causes/syc-20354136 "DO"]
synonym: "benign nasal cavity tumor" EXACT []
synonym: "benign neoplasm of the nasal cavity" EXACT []
synonym: "benign tumor of nasal cavity" EXACT []
synonym: "neoplasm of nasal cavity" EXACT []
synonym: "tumor of the nasal cavity" EXACT []
xref: NCI:C4603
is_a: DOID:0050621 ! respiratory system benign neoplasm
is_a: DOID:0060096 ! sensory organ benign neoplasm
is_a: DOID:2163 ! nasal cavity disease
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:9312
name: chronic ethmoiditis
def: "A ethmoid sinusitis which lasts for 12 weeks or more. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"]
synonym: "chronic ethmoidal sinusitis" EXACT []
synonym: "chronic ethmoid sinusitis" EXACT []
xref: ICD10CM:J32.2
xref: ICD9CM:473.2
xref: NCI:C34472
is_a: DOID:9507 ! ethmoid sinusitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9317
name: lymphangitis
def: "A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. (DO)" [http://en.wikipedia.org/wiki/Lymphangitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Lymphangitis "DO"]
synonym: "lymphangitides" EXACT []
xref: EFO:0007351
xref: ICD10CM:I89.1
xref: ICD9CM:457.2
xref: MESH:D008205
xref: NCI:C34790
is_a: DOID:75 ! lymphatic system disease

[Term]
id: DOID:9335
name: scotoma
def: "A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of EYE DISEASES (e.g., RETINAL DISEASES and GLAUCOMA); OPTIC NERVE DISEASES, and other conditions." [MESH:D012607]
synonym: "altitudinal scotoma" EXACT []
synonym: "altitudinal scotomas" EXACT []
synonym: "Arcuate Scotoma" EXACT []
synonym: "Arcuate Scotomas" EXACT []
synonym: "Bjerrum Scotoma" EXACT []
synonym: "Bjerrum Scotomas" EXACT []
synonym: "Blind spot area scotoma" EXACT [SNOMEDCT_2005_07_31:193673000]
synonym: "Central Scotoma" EXACT []
synonym: "Central Scotomas" EXACT []
synonym: "Centrocecal Scotoma" EXACT []
synonym: "Centrocecal Scotomas" EXACT []
synonym: "enlarged angioscotoma" EXACT []
synonym: "Enlarged blind spot" EXACT []
synonym: "enlarged paracaecal scotoma" EXACT []
synonym: "generalized visual field contraction or constriction" EXACT []
synonym: "Paracecal Scotoma" EXACT []
synonym: "Paracecal Scotomas" EXACT []
synonym: "Paracentral Scotoma" EXACT []
synonym: "Paracentral Scotomas" EXACT []
synonym: "Peripheral Scotoma" EXACT []
synonym: "Peripheral Scotomas" EXACT []
synonym: "Ring Scotoma" EXACT []
synonym: "Ring Scotomas" EXACT []
synonym: "Scintillating Scotoma" EXACT []
synonym: "Scintillating Scotomas" EXACT []
synonym: "Scotoma of blind spot area" EXACT [ICD9CM_2006:368.42]
synonym: "Scotomas" EXACT []
synonym: "Sector or arcuate visual field defects" EXACT []
synonym: "sector scotoma" EXACT []
synonym: "sector scotomas" EXACT []
xref: ICD10CM:H53.42
xref: ICD10CM:H53.45
xref: ICD9CM:368.42
xref: ICD9CM:368.44
xref: MESH:D012607
is_a: DOID:5614 ! eye disease
is_a: DOID:9000343 ! Vision Disorders

[Term]
id: DOID:9336
name: bestiality
synonym: "zoophilia" EXACT []
xref: ICD9CM:302.1
is_a: DOID:0060044 ! paraphilia disorder
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:9339
name: urethral false passage
xref: ICD10CM:N36.5
xref: ICD9CM:599.4
is_a: DOID:732 ! urethral disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:934
name: viral infectious disease
def: "A disease by infectious agent that results in infection, has_material_basis_in Viruses. (DO)" [http://www.merck.com/mmhe/sec17/ch198/ch198a.html "DO"]
subset: RGD_JBrowse_slim
synonym: "Viral Disease" EXACT []
synonym: "viral diseases" EXACT []
synonym: "Viral Infection" EXACT []
synonym: "viral infections" EXACT []
synonym: "Viral Infectious Diseases" EXACT []
synonym: "Virus Disease" EXACT []
synonym: "Virus Diseases" EXACT []
synonym: "virus infection" EXACT []
synonym: "virus infections" EXACT []
xref: EFO:0000763
xref: EFO:1001269
xref: ICD10CM:A94
xref: ICD10CM:B34.9
xref: ICD9CM:060-066.99
xref: MESH:D014777
xref: NCI:C3439
xref: NCI:C34396
is_a: DOID:0050117 ! disease by infectious agent

[Term]
id: DOID:9341
name: urethral diverticulum
def: "A pouch or sac-like protrusion in the urethra. (NCI)" []
xref: ICD10CM:N36.1
xref: ICD9CM:599.2
xref: NCI:C39861
is_a: DOID:732 ! urethral disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:9346
name: Taylor's syndrome
synonym: "Congestion-fibrosis syndrome" EXACT []
synonym: "pelvic congestion syndrome" EXACT []
synonym: "Taylor syndrome" EXACT []
xref: ICD9CM:625.5
xref: RDO:9004558
is_a: DOID:225 ! syndrome
is_a: DOID:345 ! uterine disease
created_by: rgd
creation_date: 2017-11-01T00:00:00Z

[Term]
id: DOID:9348
name: carotid artery dissection
synonym: "dissection of carotid artery" EXACT []
xref: ICD10CM:I77.71
xref: ICD9CM:443.21
xref: NCI:C125662
is_a: DOID:9006182 ! Carotid Artery Injuries
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9351
name: diabetes mellitus
alt_id: DOID:0081062
def: "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. (DO)" [http://www.who.int/diabetes/action_online/basics/en/ "DO", https://en.wikipedia.org/wiki/Diabetes_mellitus "DO", https://medlineplus.gov/diabetes.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/9686693 "DO"]
synonym: "diabetes" EXACT []
synonym: "monogenic diabetes" NARROW []
synonym: "transient neonatal diabetes" NARROW []
xref: EFO:0000400
xref: EFO:1001511
xref: ICD10CM:E08-E13
xref: ICD9CM:250
xref: MESH:D003920
xref: NCI:C2985
is_a: DOID:28 ! endocrine system disease
is_a: DOID:4194 ! glucose metabolism disease

[Term]
id: DOID:9352
name: type 2 diabetes mellitus
alt_id: MIM:125853
def: "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. (DO)" [http://en.wikipedia.org/wiki/Diabetes "DO", http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2 "DO"]
synonym: "adult-onset diabetes mellitus" EXACT []
synonym: "Diabetes mellitus, noninsulin-dependent, late-onset" EXACT []
synonym: "DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED" NARROW []
synonym: "DIABETES MELLITUS, NONINSULIN-DEPENDENT, WITH ACANTHOSIS NIGRICANS AND HYPERTENSION" NARROW []
synonym: "diabetes mellitus type 2, protection against" RELATED []
synonym: "DIABETES MELLITUS TYPE 2, SUSCEPTIBILITY TO" RELATED []
synonym: "Diabetes Mellitus, Type II" EXACT []
synonym: "DIABETES MELLITUS, TYPE II, DIGENIC" NARROW []
synonym: "DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO" RELATED []
synonym: "Diabetes mellitus with hyperinsulinemia" EXACT []
synonym: "HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO" RELATED []
synonym: "INSULIN RESISTANCE, SEVERE, DIGENIC" NARROW []
synonym: "insulin-resistant diabetes mellitus" EXACT []
synonym: "Ketosis-Resistant Diabetes Mellitus" EXACT []
synonym: "Maturity-Onset Diabetes" EXACT []
synonym: "MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO" RELATED []
synonym: "Maturity Onset Diabetes Mellitus" EXACT []
synonym: "NEUROD1-RELATED CONDITION" RELATED []
synonym: "NIDDM" EXACT []
synonym: "Non-Insulin-Dependent Diabetes Mellitus" EXACT []
synonym: "Noninsulin-Dependent Diabetes Mellitus" EXACT []
synonym: "noninsulin-dependent diabetes mellitus, association with" RELATED []
synonym: "slow-onset diabetes mellitus" EXACT []
synonym: "stable diabetes mellitus" EXACT []
synonym: "T2D" EXACT []
synonym: "type 2 diabetes" EXACT []
synonym: "UCP3 polymorphism G/A" RELATED []
xref: EFO:0001360
xref: EFO:0010164
xref: ICD10CM:E11
xref: MESH:D003924
xref: MONDO:0005148
xref: NCI:C26747
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9358
name: fibular collateral ligament bursitis
xref: ICD9CM:726.63
is_a: DOID:0080001 ! bone disease
is_a: DOID:204 ! enthesopathy
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:936
name: brain disease
alt_id: MIM:614212
def: "A central nervous system disease that is located_in the brain. (DO)" [https://medlineplus.gov/braindiseases.html "DO"]
synonym: "brain diseases" EXACT []
synonym: "brain disorder" EXACT []
synonym: "brain disorders" EXACT []
synonym: "central nervous system intracranial disorders" EXACT []
synonym: "delayed encephalopathy after acute carbon monoxide poisoning" NARROW []
synonym: "encephalon disease" EXACT []
synonym: "encephalon diseases" EXACT []
synonym: "encephalopathies" EXACT []
synonym: "encephalopathy" EXACT []
synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4" RELATED []
synonym: "IIAE4" NARROW []
synonym: "INFANTILE ENCEPHALOPATHY" NARROW []
synonym: "intracranial CNS disorder" EXACT []
synonym: "intracranial CNS disorders" EXACT []
synonym: "NEONATAL ENCEPHALOPATHY" NARROW []
xref: EFO:0005534
xref: EFO:0005774
xref: ICD10CM:G93.40
xref: ICD10CM:G93.9
xref: ICD9CM:348.30
xref: ICD9CM:348.9
xref: MESH:D001927
xref: MIM:PS610551
xref: MIM:PS614388
xref: NCI:C26920
xref: NCI:C96413
is_a: DOID:331 ! central nervous system disease

[Term]
id: DOID:9360
name: intrinsic asthma
def: "A chronic asthma that is triggered by factors not attributable to allergies. (DO)" [http://www.aafa.org/display.cfm?id=8&sub=17 "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1532783/pdf/califmed00272-0002b.pdf "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/ "DO"]
synonym: "non-atopic asthma" EXACT []
xref: ICD9CM:493.1
is_a: DOID:0080809 ! chronic asthma
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:9362
name: status asthmaticus
def: "An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK526070/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/11399724 "DO"]
synonym: "Asthmatic Crises" EXACT []
synonym: "Asthmatic Crisis" EXACT []
synonym: "Asthmatic Shock" EXACT []
synonym: "Asthmatic Shocks" EXACT []
synonym: "asthma with status asthmaticus" EXACT []
synonym: "severe asthma attack" EXACT []
xref: EFO:0008590
xref: ICD9CM:493.91
xref: MESH:D013224
xref: NCI:C122577
is_a: DOID:0080810 ! acute asthma

[Term]
id: DOID:9365
name: vesiculitis
synonym: "seminal vesiculitis" EXACT []
xref: ICD10CM:N49.0
xref: ICD9CM:608.0
xref: RDO:9004661
is_a: DOID:48 ! male reproductive system disease
is_a: DOID:9005372 ! Inflammation
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:9368
name: keratoconjunctivitis
def: "Simultaneous inflammation of the cornea and conjunctiva." [MESH:D007637]
synonym: "Keratoconjunctivitides" EXACT []
xref: ICD10CM:H16.2
xref: ICD9CM:370.40
xref: MESH:D007637
xref: NCI:C34744
xref: RDO:0005930
is_a: DOID:4677 ! keratitis
is_a: DOID:6195 ! conjunctivitis

[Term]
id: DOID:9369
name: orbital plasma cell granuloma
def: "A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." [MESH:D016727]
synonym: "Inflammatory Pseudotumor of Orbit" EXACT []
synonym: "Orbital Inflammatory Pseudotumor" EXACT []
synonym: "Orbital Inflammatory Pseudotumors" EXACT []
synonym: "orbital myositis" EXACT []
synonym: "Orbital Pseudotumor" EXACT []
synonym: "Orbital Pseudotumors" EXACT []
synonym: "pseudotumor of orbit" EXACT []
xref: EFO:1001077
xref: MESH:D016727
is_a: DOID:1397 ! chronic orbital inflammation
is_a: DOID:930 ! orbital disease

[Term]
id: DOID:9373
name: postural kyphosis
def: "A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra. (DO)" [http://en.wikipedia.org/wiki/Kyphosis "DO", http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html "DO", http://www.mayoclinic.com/health/kyphosis/DS00681/DSECTION=causes "DO"]
is_a: DOID:4667 ! kyphosis
created_by: mtutaj
creation_date: 2023-07-21T10:11:59Z

[Term]
id: DOID:9375
name: Fuchs' heterochromic uveitis
def: "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. (DO)" [http://en.wikipedia.org/wiki/Fuchs_heterochromic_iridocyclitis "DO"]
synonym: "Fuch's Heterochromic iridocyclitis" EXACT []
synonym: "Fuchs' heterochromic cyclitis" EXACT []
synonym: "Fuchs uveitis syndrome" EXACT []
xref: GARD:6791
xref: ICD10CM:H20.81
xref: ICD9CM:364.21
is_a: DOID:225 ! syndrome
is_a: DOID:9383 ! iridocyclitis
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:9378
name: glaucomatocyclitic crisis
synonym: "Posner-Schlossman syndrome" EXACT []
synonym: "Posner-Schlossman Syndrome (PSS)" EXACT []
synonym: "Terrien-Viel syndrome" EXACT []
xref: GARD:10737
xref: ICD9CM:364.22
xref: RDO:9003092
is_a: DOID:9383 ! iridocyclitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9383
name: iridocyclitis
def: "Acute or chronic inflammation of the iris and ciliary body characterized by exudates into the anterior chamber, discoloration of the iris, and constricted, sluggish pupil. Symptoms include radiating pain, photophobia, lacrimation, and interference with vision." [MESH:D015863]
synonym: "heterochromic cyclitides" EXACT []
synonym: "heterochromic cyclitis" EXACT []
synonym: "iridocyclitides" EXACT []
synonym: "primary iridocyclitis" EXACT []
xref: ICD10CM:H20.01
xref: ICD9CM:364.01
xref: ICD9CM:364.2
xref: MESH:D015863
is_a: DOID:1407 ! anterior uveitis
is_a: DOID:240 ! iris disease

[Term]
id: DOID:9384
name: gonococcal iridocyclitis
xref: ICD10CM:A54.32
xref: ICD9CM:098.41
is_a: DOID:9005473 ! Bacterial Eye Infections
is_a: DOID:9008538 ! Neisseriaceae Infections
is_a: DOID:9383 ! iridocyclitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9388
name: lens-induced iridocyclitis
xref: ICD10CM:H20.2
xref: ICD9CM:364.23
is_a: DOID:9383 ! iridocyclitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9389
name: infectious anterior uveitis
synonym: "secondary infected iridocyclitis" EXACT [SNOMEDCT_2005_07_31:193487008]
synonym: "secondary iridocyclitis, infectious" EXACT [ICD9CM_2006:364.03]
xref: ICD10CM:H20.03
xref: ICD9CM:364.03
xref: RDO:9003095
is_a: DOID:9383 ! iridocyclitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9392
name: tracheitis
def: "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. (DO)" [http://www.merck.com/mmpe/sec19/ch277/ch277j.html?qt=tracheitis&alt=sh "DO"]
synonym: "acute tracheitis" EXACT []
synonym: "chronic tracheitis" EXACT []
synonym: "tracheitides" EXACT []
xref: EFO:0007518
xref: ICD10CM:J04.1
xref: ICD9CM:464.1
xref: MESH:D014136
xref: NCI:C78643
is_a: DOID:3225 ! tracheal disease
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9008680 ! Respiratory Tract Infections

[Term]
id: DOID:9395
name: croup
def: "A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. (DO)" [http://books.google.com/books?id=G6k0tpPMRsIC&pg=PA254&lpg=PA254&dq#v=onepage&q=&f=false "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000959.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=croup "DO"]
synonym: "acute laryngotracheobronchitis" EXACT []
synonym: "acute obstructive laryngitis" EXACT []
synonym: "Croup syndrome" EXACT []
synonym: "Laryngotracheobronchitis" EXACT []
synonym: "Postintubation Croup" EXACT []
synonym: "Spasmodic Croup" EXACT []
synonym: "Viral Croup" EXACT []
xref: EFO:0007227
xref: ICD10CM:J05.0
xref: ICD9CM:464.4
xref: MESH:D003440
xref: NCI:C26735
is_a: DOID:3437 ! laryngitis

[Term]
id: DOID:9396
name: acute laryngitis
def: "A laryngitis which lasts less than a few days. (DO)" [http://en.wikipedia.org/wiki/Laryngitis "DO"]
xref: ICD10CM:J04.0
xref: ICD9CM:464.0
xref: ICD9CM:464.01
xref: NCI:C26688
is_a: DOID:3437 ! laryngitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:9398
name: epiglottitis
def: "An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. (DO)" [http://en.wikipedia.org/wiki/Epiglottitis "DO"]
synonym: "acute epiglottitis" EXACT []
synonym: "acute epiglottitis and supraglottitis" EXACT []
synonym: "Epiglottitides" EXACT []
xref: EFO:0007261
xref: ICD10CM:J05.1
xref: ICD10CM:J05.10
xref: ICD9CM:464.3
xref: MESH:D004826
xref: NCI:C116007
is_a: DOID:9000140 ! Supraglottitis
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:9401
name: epididymo-orchitis
xref: ICD10CM:N45.3
xref: ICD9CM:604
is_a: DOID:9402 ! epididymitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:9402
name: epididymitis
def: "Inflammation of the EPIDIDYMIS. Its clinical features include enlarged epididymis, a swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD." [MESH:D004823]
synonym: "epididymitides" EXACT []
xref: ICD10CM:N45.1
xref: MESH:D004823
is_a: DOID:0080373 ! epididymis disease

[Term]
id: DOID:9406
name: hypopituitarism
def: "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. (DO)" [http://en.wikipedia.org/wiki/Hypopituitarism "DO"]
synonym: "adenohypophyseal hyposecretion" EXACT []
synonym: "anterior pituitary hyposecretion syndrome" EXACT []
synonym: "pituitary hormone deficiency" EXACT []
synonym: "pituitary hypofunction" EXACT []
synonym: "pituitary insufficiency" EXACT []
xref: EFO:0001380
xref: GARD:2917
xref: MESH:D007018
xref: NCI:C62591
xref: ORDO:95494
is_a: DOID:53 ! pituitary gland disease

[Term]
id: DOID:9407
name: strictly posterior acute myocardial infarction
xref: ICD9CM:410.60
is_a: DOID:9408 ! acute myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:9408
name: acute myocardial infarction
xref: EFO:0008583
xref: ICD10CM:I21
xref: ICD9CM:410
xref: NCI:C35204
is_a: DOID:5844 ! myocardial infarction
created_by: rgd
creation_date: 2017-09-06T00:00:00Z

[Term]
id: DOID:9409
name: diabetes insipidus
def: "A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26913870/ "DO", https://pubmed.ncbi.nlm.nih.gov/27156759/ "DO", https://pubmed.ncbi.nlm.nih.gov/28476225/ "DO", https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7426034/ "DO"]
xref: ICD10CM:E23.2
xref: ICD9CM:253.5
xref: MESH:D003919
xref: MONDO:0004782
xref: NCI:C43263
is_a: DOID:53 ! pituitary gland disease
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9410
name: panhypopituitarism
alt_id: DOID:9003666
def: "A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27828722 "DO"]
synonym: "autosominal recessive combined pituitary hormone deficiency" NARROW []
synonym: "combined pituitary hormone deficiency" EXACT []
synonym: "Simmond's disease" EXACT []
synonym: "Simmonds' disease" EXACT []
xref: EFO:0020037
xref: ICD9CM:253.2
xref: MESH:C580003
xref: MIM:PS613038
xref: NCI:C110940
xref: ORDO:90695
is_a: DOID:9406 ! hypopituitarism

[Term]
id: DOID:9415
name: allergic asthma
def: "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. (DO)" [http://www.aafa.org/display.cfm?id=8&sub=16 "DO", https://www.ncbi.nlm.nih.gov/books/NBK526018/ "DO"]
synonym: "allergic atopic asthma" EXACT []
synonym: "atopic asthma" RELATED []
synonym: "extrinsic asthma with acute exacerbation" EXACT []
synonym: "extrinsic asthma with status asthmaticus" EXACT []
xref: EFO:0010638
xref: ICD10CM:J45
xref: ICD9CM:493.0
is_a: DOID:0060496 ! respiratory allergy
is_a: DOID:0080811 ! extrinsic asthma
created_by: rgd
creation_date: 2016-08-22T00:00:00Z

[Term]
id: DOID:9423
name: blepharitis
def: "An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. (DO)" [http://en.wikipedia.org/wiki/Blepharitis "DO"]
synonym: "blepharitides" EXACT []
xref: EFO:0009536
xref: ICD10CM:H01.0
xref: ICD9CM:373.0
xref: ICD9CM:373.4
xref: MESH:D001762
xref: NCI:C112183
is_a: DOID:530 ! eyelid disease

[Term]
id: DOID:9427
name: hypertensive encephalopathy
def: "Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE." [MESH:D020343]
xref: EFO:1000976
xref: ICD10CM:I67.4
xref: ICD9CM:437.2
xref: MESH:D020343
xref: NCI:C3503
is_a: DOID:9428 ! intracranial hypertension

[Term]
id: DOID:9428
name: intracranial hypertension
def: "A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema. (DO)" [https://en.wikipedia.org/wiki/Brain_herniation "DO", https://en.wikipedia.org/wiki/Intracranial_pressure "DO"]
synonym: "elevated ICP (intracranial pressure)" EXACT []
synonym: "Elevated Intracranial Pressure" EXACT []
synonym: "ICP (intracranial pressure) elevation" EXACT []
synonym: "ICP (intracranial pressure) increase" EXACT []
synonym: "intracranial pressure increase" EXACT []
synonym: "raised intracranial pressure" EXACT []
xref: EFO:1000992
xref: MESH:D019586
xref: NCI:C84791
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9432
name: renal glycosuria
alt_id: MIM:233100
def: "An autosomal inherited disorder due to defective reabsorption of GLUCOSE by the PROXIMAL RENAL TUBULES. The urinary loss of glucose can reach beyond 50 g/day. It is attributed to the mutations in the SODIUM-GLUCOSE TRANSPORTER 2 encoded by the SLC5A2 gene." [MESH:D006030]
synonym: "FAMILIAL RENAL GLUCOSURIA" EXACT []
synonym: "GLYS" EXACT []
synonym: "GLYS1" EXACT []
synonym: "renal diabetes" EXACT []
synonym: "renal glucosuria" EXACT []
synonym: "SLC5A2-RELATED CONDITION" EXACT []
xref: EFO:1001151
xref: GARD:7548
xref: ICD9CM:271.4
xref: MESH:D006030
is_a: DOID:447 ! renal tubular transport disease
is_a: DOID:9003426 ! Glycosuria

[Term]
id: DOID:9439
name: chronic cholangitis
xref: NCI:C35335
is_a: DOID:9446 ! cholangitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:9442
name: cervical Mullerian papilloma
def: "A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity. (DO)" [http://www.pathologyoutlines.com/topic/cervixmesonephricpap.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/22935300 "DO"]
synonym: "cervical Muellerian papilloma" EXACT []
xref: NCI:C40215
is_a: DOID:0060110 ! cervical benign neoplasm

[Term]
id: DOID:9445
name: cervix squamous papilloma
def: "A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium. (DO)" [http://www.pathologyoutlines.com/topic/cervixsquamouspapilloma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/13005077 "DO"]
synonym: "squamous papilloma of the cervix uteri" EXACT [NCI2004_11_17:C6342]
xref: NCI:C6342
is_a: DOID:0060110 ! cervical benign neoplasm
is_a: DOID:2615 ! papilloma
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:9446
name: cholangitis
def: "A bile duct disease that is an inflammation of the bile duct. (DO)" [http://en.wikipedia.org/wiki/Cholangitis "DO"]
synonym: "cholangitides" EXACT []
xref: ICD9CM:576.1
xref: MESH:D002761
xref: NCI:C26718
is_a: DOID:4138 ! bile duct disease

[Term]
id: DOID:9452
name: steatotic liver disease
def: "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27099587/ "DO", https://pubmed.ncbi.nlm.nih.gov/37364816/ "DO"]
synonym: "cryptogenic steatotic liver disease" NARROW []
synonym: "fatty change of liver" EXACT []
synonym: "fatty liver" EXACT []
synonym: "fatty liver disease" EXACT []
synonym: "FATTY LIVER DISEASE, PROTECTION FROM" RELATED []
synonym: "hepatic lipidosis" EXACT []
synonym: "hepatic steatosis" EXACT []
synonym: "hepatosteatosis" EXACT []
synonym: "HSD17B13 POLYMORPHISM" RELATED []
synonym: "liver steatoses" EXACT []
synonym: "liver steatosis" EXACT []
synonym: "SLD" EXACT []
synonym: "steatohepatitides" EXACT []
synonym: "steatohepatitis" EXACT []
synonym: "steatosis of liver" EXACT []
synonym: "visceral steatoses" EXACT []
synonym: "visceral steatosis" EXACT []
xref: EFO:0003934
xref: ICD10CM:K70.0
xref: ICD9CM:571.0
xref: MESH:D005234
xref: MONDO:0004790
xref: NCI:C150596
is_a: DOID:409 ! liver disease
is_a: DOID:9455 ! lipid storage disease

[Term]
id: DOID:9455
name: lipid storage disease
def: "A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. (DO)" [http://en.wikipedia.org/wiki/Lipidoses "DO"]
synonym: "inborn lipid storage disorder" EXACT []
synonym: "Lipidoses" EXACT []
synonym: "Lipidosis" EXACT []
synonym: "Lipoidosis" EXACT []
synonym: "lipoid storage diseas" EXACT []
synonym: "steatosis" EXACT []
xref: EFO:0008527
xref: ICD10CM:E75.6
xref: ICD9CM:272.7
xref: ICD9CM:272.8
xref: MESH:D008064
is_a: DOID:3146 ! lipid metabolism disorder
is_a: DOID:3211 ! lysosomal storage disease

[Term]
id: DOID:9459
name: isthmus cancer
xref: ICD9CM:182.1
is_a: DOID:9460 ! uterine corpus cancer
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:946
name: dientamoebiasis
def: "A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue. (DO)" [http://www.cdc.gov/ncidod/dpd/parasites/dientamoeba/factsht_dientamoeba.htm "DO"]
synonym: "dientamoebiases" EXACT []
synonym: "intestinal trichomoniasis" EXACT []
xref: MESH:D004030
is_a: DOID:2789 ! parasitic protozoa infectious disease
is_a: DOID:9002892 ! Parasitic Intestinal Diseases

[Term]
id: DOID:9460
name: uterine corpus cancer
def: "A uterine cancer that is located_in the uterine corpus. (DO)" [http://en.wikipedia.org/wiki/Uterine_cancer "DO", http://en.wikipedia.org/wiki/Uterus "DO"]
synonym: "corpus uteri cancer" EXACT []
xref: EFO:0007532
xref: ICD10CM:C54
xref: ICD9CM:182
xref: NCI:C3556
xref: RDO:9002561
is_a: DOID:363 ! uterine cancer
created_by: rgd
creation_date: 2017-10-06T00:00:00Z

[Term]
id: DOID:9461
name: exposure keratitis
synonym: "Exposure keratoconjunctivitis" EXACT [ICD9CM_2006:370.34]
synonym: "lagophthalmic keratitis" EXACT [SNOMEDCT_2005_07_31:14366000]
xref: ICD10CM:H16.21
xref: ICD9CM:370.34
xref: RDO:9003236
is_a: DOID:9368 ! keratoconjunctivitis
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:9462
name: cholesteatoma of external ear
def: "A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/10993445 "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/15763298 "DO"]
synonym: "external canal cholesteatoma" EXACT []
xref: EFO:1000677
xref: ICD10CM:H60.4
xref: ICD9CM:380.21
is_a: DOID:379 ! external ear disease
is_a: DOID:869 ! cholesteatoma
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:9463
name: otitis externa
def: "An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections. (DO)" [http://en.wikipedia.org/wiki/Otitis_externa "DO"]
synonym: "external otitides" EXACT []
synonym: "external otitis" EXACT []
synonym: "swimmer's ear" EXACT []
xref: EFO:0009560
xref: ICD9CM:380.1
xref: MESH:D010032
xref: NCI:C3299
is_a: DOID:379 ! external ear disease
is_a: DOID:9007481 ! Otitis

[Term]
id: DOID:9467
name: nail-patella syndrome
alt_id: MIM:161200
def: "A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15416035 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9590287 "DO"]
synonym: "Fong disease" EXACT []
synonym: "hereditary onychoostedysplasia" EXACT []
synonym: "Hereditary Onycho-Osteodysplasia" EXACT []
synonym: "Hereditary Osteo-Onychodysplasia" EXACT []
synonym: "Hereditary Osteo-Onychodysplasias" EXACT []
synonym: "iliac horn syndrome" EXACT []
synonym: "LMX1B-RELATED CONDITION" BROAD []
synonym: "NPS" EXACT []
synonym: "NPS1" EXACT []
synonym: "Onychoosteodysplasia" EXACT []
synonym: "Osterreicher Syndrome" EXACT []
synonym: "Pelvic Horn Syndrome" EXACT []
synonym: "Turner Kieser syndrome" EXACT []
synonym: "Turner-Kiser syndrome" EXACT []
xref: GARD:7160
xref: MESH:D009261
xref: NCI:C75120
xref: ORDO:2614
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:225 ! syndrome
is_a: DOID:381 ! arthropathy
is_a: DOID:4123 ! nail disease
is_a: DOID:9007653 ! Multiple Abnormalities

[Term]
id: DOID:9470
name: bacterial meningitis
def: "A meningitis that has_material_basis_in a bacterial infection. (DO)" [https://en.wikipedia.org/wiki/Meningitis#Bacterial "DO"]
synonym: "bacterial meningitides" EXACT []
xref: EFO:1000831
xref: GARD:5881
xref: ICD10CM:G00
xref: ICD9CM:320
xref: MESH:D016920
xref: NCI:C118297
is_a: DOID:9002742 ! Central Nervous System Bacterial Infections
is_a: DOID:9471 ! meningitis

[Term]
id: DOID:9471
name: meningitis
def: "A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. (DO)" [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=mmed.section.5162 "DO"]
synonym: "meningitides" EXACT []
synonym: "pachymeningitides" EXACT []
synonym: "pachymeningitis" EXACT []
xref: EFO:0000584
xref: ICD9CM:322.9
xref: MESH:D008581
xref: MONDO:0021108
xref: NCI:C26828
is_a: DOID:331 ! central nervous system disease
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:9473
name: mononeuritis of lower limb
xref: ICD9CM:355.8
is_a: DOID:1802 ! mononeuritis
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:9476
name: Sheehan syndrome
synonym: "Postpartum Hypopituitarism" EXACT [NCI2004_11_17:C35300]
synonym: "Postpartum Panhypopituitarism" EXACT []
synonym: "Postpartum Pituitary Insufficiency" EXACT []
synonym: "Sheehan's syndrome" EXACT [SNOMEDCT_2005_07_31:154703006]
xref: GARD:7630
xref: NCI:C35300
xref: RDO:9003535
is_a: DOID:225 ! syndrome
is_a: DOID:9000610 ! Obstetric Labor Complications
is_a: DOID:9406 ! hypopituitarism
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9477
name: pulmonary embolism
def: "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. (DO)" [http://en.wikipedia.org/wiki/Pulmonary_embolism "DO", http://www.nlm.nih.gov/medlineplus/pulmonaryembolism.html "DO"]
synonym: "pulmonary artery embolism" EXACT []
synonym: "pulmonary embolisms" EXACT []
synonym: "pulmonary embolus" EXACT []
synonym: "pulmonary thromboembolism" EXACT []
synonym: "pulmonary thromboembolisms" EXACT []
xref: EFO:0003827
xref: ICD10CM:I26
xref: MESH:D011655
xref: NCI:C50713
is_a: DOID:60001 ! pulmonary artery disease
is_a: DOID:9002522 ! Embolism

[Term]
id: DOID:9478
name: postpartum depression
def: "An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth. (DO)" [http://en.wikipedia.org/wiki/Mood_disorder "DO"]
synonym: "maternity blues" EXACT []
synonym: "post natal depression" EXACT []
synonym: "postnatal depression" EXACT []
synonym: "post partum depression" EXACT []
xref: EFO:0007453
xref: ICD10CM:F53.0
xref: MESH:D019052
xref: NCI:C92852
is_a: DOID:1595 ! melancholic depression
is_a: DOID:9001791 ! Puerperal Disorders

[Term]
id: DOID:9483
name: ulcerative blepharitis
xref: ICD10CM:H01.01
xref: ICD9CM:373.01
is_a: DOID:9423 ! blepharitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:9487
name: Meckel's diverticulum
alt_id: MIM:155140
def: "A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum. (DO)" [https://en.wikipedia.org/wiki/Meckel's_diverticulum "DO"]
synonym: "Meckel diverticulum" EXACT []
synonym: "persistent vitelline duct" EXACT []
xref: EFO:1001036
xref: ICD10CM:Q43.0
xref: ICD9CM:751.0
xref: MESH:D008467
xref: NCI:C12264
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9001008 ! Diverticulum
is_a: DOID:9001683 ! Digestive System Abnormalities

[Term]
id: DOID:949
name: chronic dacryoadenitis
xref: ICD10CM:H04.02
xref: ICD9CM:375.02
is_a: DOID:950 ! dacryoadenitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:9496
name: unilateral hypoactive labyrinth
xref: ICD9CM:386.53
xref: MONDO:0004801
is_a: DOID:566 ! labyrinthine dysfunction
created_by: rgd
creation_date: 2017-11-07T00:00:00Z

[Term]
id: DOID:9498
name: pulmonary eosinophilia
def: "A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs. (DO)" [https://rarediseases.org/rare-diseases/simple-pulmonary-eosinophilia/ "DO"]
synonym: "Eosinophilic Pneumonia" EXACT []
synonym: "eosinophilic pneumonias" EXACT []
synonym: "pulmonary eosinophilias" EXACT []
synonym: "Simple Pulmonary Eosinophilia" EXACT []
synonym: "Simple Pulmonary Eosinophilias" EXACT []
synonym: "tropical eosinophilic pneumonia" EXACT []
synonym: "tropical eosinophilic pneumonias" EXACT []
xref: ICD9CM:518.3
xref: MESH:D011657
is_a: DOID:850 ! lung disease
is_a: DOID:999 ! hypereosinophilic syndrome

[Term]
id: DOID:9499
name: disseminated eosinophilic collagen disease
xref: RDO:9002619
is_a: DOID:854 ! collagen disease
is_a: DOID:999 ! hypereosinophilic syndrome
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:950
name: dacryoadenitis
synonym: "dacryoadenitides" EXACT []
xref: ICD10CM:H04.0
xref: ICD9CM:375.0
xref: NCI:C26971
is_a: DOID:1400 ! lacrimal apparatus disease
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:9500
name: leukocyte disease
def: "A hematopoietic system disease that is located_in white blood cells. (DO)" [https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/ "DO"]
synonym: "leukocyte disorder" EXACT []
synonym: "leukocyte disorders" EXACT []
xref: ICD10CM:D72.9
xref: ICD9CM:288
xref: MESH:D007960
is_a: DOID:74 ! hematopoietic system disease

[Term]
id: DOID:9502
name: chronic eosinophilic pneumonia
def: "An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease. (DO)" [http://www.merck.com/mmhe/print/sec04/ch051/ch051c.html "DO", http://www.merck.com/mmpe/sec05/ch055/ch055d.html#sec05-ch055-ch055d-849 "DO"]
synonym: "cryptogenic pulmonary eosinophilia" EXACT []
xref: GARD:1130
xref: GARD:2134
xref: ICD10CM:J82.81
xref: NCI:C34471
is_a: DOID:5870 ! eosinophilic pneumonia
is_a: DOID:9498 ! pulmonary eosinophilia
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:9503
name: Loeffler syndrome
def: "An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection. (DO)" [http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_syndrome "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Loeffler%27s%20syndrome "DO"]
synonym: "Loeffler's pneumonia" EXACT []
synonym: "Loffler's syndrome" EXACT []
xref: ICD10CM:J82.89
xref: NCI:C35301
is_a: DOID:1205 ! allergic disease
is_a: DOID:5870 ! eosinophilic pneumonia
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:9504
name: benign mammary dysplasia
def: "A breast benign neoplasm that encompasses a range of conditions in which there is marked change in the breast tissue. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mammary-dysplasia "DO"]
xref: ICD9CM:610.8
is_a: DOID:0060082 ! breast benign neoplasm
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:9505
name: cannabis abuse
def: "A substance abuse that involves the recurring use of cannabis despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Cannabis_%28drug%29 "DO"]
synonym: "cannabis related disorder" EXACT []
synonym: "cannabis use disorder" EXACT []
synonym: "Hashish Abuse" EXACT []
synonym: "marihuana abuse" EXACT []
synonym: "marijuana abuse" EXACT []
xref: EFO:0007191
xref: ICD10CM:F12
xref: ICD10CM:F12.1
xref: ICD9CM:305.2
xref: MESH:D002189
is_a: DOID:302 ! substance abuse

[Term]
id: DOID:9506
name: acute ethmoiditis
def: "A ethmoid sinusitis which lasts for less than 4 weeks. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"]
synonym: "acute ethmoidal sinus" EXACT []
synonym: "acute ethmoidal sinusitis" EXACT []
synonym: "acute ethmoid sinusitis" EXACT []
xref: ICD10CM:J01.2
xref: ICD9CM:461.2
is_a: DOID:9507 ! ethmoid sinusitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:9507
name: ethmoid sinusitis
def: "A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"]
synonym: "ethmoidal sinusitides" EXACT []
synonym: "ethmoidal sinusitis" EXACT []
synonym: "ethmoiditis" EXACT []
synonym: "ethmoid sinusitides" EXACT []
xref: EFO:0007264
xref: MESH:D015521
xref: NCI:C34597
is_a: DOID:0050127 ! sinusitis

[Term]
id: DOID:9512
name: simple chronic conjunctivitis
xref: ICD10CM:H10.42
xref: ICD9CM:372.11
xref: RDO:9003812
is_a: DOID:2475 ! chronic conjunctivitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:9513
name: plasma cell leukemia
def: "A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count. (DO)" [https://en.wikipedia.org/wiki/Plasma_cell_leukemia "DO", https://rarediseases.info.nih.gov/diseases/9373/index "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349791/ "DO"]
synonym: "plasma cell leukaemia" EXACT []
synonym: "plasma cell leukemias" EXACT []
synonym: "plasmacytic leukaemia" EXACT []
synonym: "plasmacytic leukemia" EXACT []
synonym: "plasmacytic leukemias" EXACT []
xref: EFO:0006475
xref: GARD:9373
xref: ICD10CM:C90.1
xref: ICD9CM:203.1
xref: ICDO:9733/3
xref: MESH:D007952
xref: NCI:C3180
is_a: DOID:9538 ! multiple myeloma

[Term]
id: DOID:952
name: acute dacryoadenitis
xref: ICD10CM:H04.01
xref: ICD9CM:375.01
is_a: DOID:950 ! dacryoadenitis
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9521
name: Laron syndrome
alt_id: MIM:262500
def: "A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12. (DO)" [https://ghr.nlm.nih.gov/condition/laron-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/8488849 "DO"]
synonym: "growth hormone receptor defect" EXACT []
synonym: "Growth Hormone Receptor Deficiency" EXACT []
synonym: "Laron Dwarfism" EXACT []
synonym: "Laron syndrome with elevated serum GH-binding protein" NARROW []
synonym: "LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN" NARROW []
synonym: "Laron Type Dwarfism I" EXACT []
synonym: "Laron-type isolated somatotropin defect" EXACT []
synonym: "pituitary dwarfism II" EXACT []
synonym: "primary GH resistance" EXACT []
synonym: "primary growth hormone resistance" EXACT []
synonym: "severe GH insensitivity" EXACT []
xref: GARD:6859
xref: ICD10CM:E34.321
xref: MESH:D046150
xref: NCI:C130994
xref: ORDO:633
is_a: DOID:0050737 ! autosomal recessive disease
is_a: DOID:225 ! syndrome
is_a: DOID:9007661 ! Dwarfism

[Term]
id: DOID:9531
name: latent syphilis
def: "A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease. (DO)" [http://en.wikipedia.org/wiki/Syphilis#Latent_syphilis "DO"]
synonym: "latent stage syphili" EXACT []
synonym: "latent stage syphilis" EXACT []
xref: EFO:0007340
xref: ICD10CM:A53.0
xref: ICD9CM:097.1
xref: MESH:D013592
xref: NCI:C35056
is_a: DOID:4166 ! syphilis

[Term]
id: DOID:9534
name: tuberculous pneumothorax
def: "A pneumothorax in which air enters into the pleural cavity. (DO)" [http://books.google.com/books?id=9QcpAAAAYAAJ&pg=PA492&lpg#v=onepage&q=&f=false "DO"]
xref: ICD10CM:A15.0
xref: ICD9CM:011.7
xref: RDO:9003183
is_a: DOID:1673 ! pneumothorax
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:9537
name: Lassa fever
def: "A viral infectious disease that results_in infection, has_material_basis_in Mammarenavirus lassaense, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. (DO)" [http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lassaf.htm "DO"]
synonym: "Lassa fevers" EXACT []
xref: EFO:0007338
xref: ICD10CM:A96.2
xref: MESH:D007835
xref: NCI:C128418
is_a: DOID:3944 ! Arenaviridae infectious disease
is_a: DOID:9007401 ! Viral Hemorrhagic Fevers

[Term]
id: DOID:9538
name: multiple myeloma
alt_id: MIM:254500
def: "A myeloid neoplasm that is located_in the plasma cells in bone marrow. (DO)" [http://en.wikipedia.org/wiki/Multiple_myeloma "DO", http://www.cancer.gov/dictionary?CdrID=411384 "DO"]
synonym: "AL" NARROW []
synonym: "AL AMYLOIDOSIS" NARROW []
synonym: "AMYLOIDOSIS, SYSTEMIC" NARROW []
synonym: "Kahler disease" EXACT []
synonym: "Multiple Myeloma, Resistance To" RELATED []
synonym: "multiple myelomas" EXACT []
synonym: "Multiple Myeloma, t(11;14) Type, Susceptibility To" RELATED []
synonym: "Multiple Myeloma, Translocation 11,14 Type" NARROW []
synonym: "myeloma" EXACT []
synonym: "Myelomatoses" EXACT []
synonym: "Myelomatosis" EXACT []
synonym: "plasma cell myeloma" EXACT []
synonym: "plasma cell myelomas" EXACT []
xref: EFO:0001378
xref: GARD:7108
xref: ICD10CM:C90.0
xref: ICD9CM:203.0
xref: MESH:D009101
xref: NCI:C125416
xref: NCI:C125417
xref: NCI:C3242
xref: ORDO:29073
is_a: DOID:0060704 ! lymphoproliferative syndrome
is_a: DOID:0070004 ! myeloid neoplasm
is_a: DOID:484 ! vascular hemostatic disease
is_a: DOID:6536 ! plasma cell neoplasm
is_a: DOID:9003571 ! Paraproteinemias

[Term]
id: DOID:9540
name: vascular skin disease
def: "Skin diseases affecting or involving the cutaneous blood vessels and generally manifested as inflammation, swelling, erythema, or necrosis in the affected area." [MESH:D017445]
synonym: "vascular skin diseases" EXACT []
xref: ICD9CM:709.1
xref: MESH:D017445
xref: NCI:C35254
is_a: DOID:178 ! vascular disease
is_a: DOID:37 ! skin disease

[Term]
id: DOID:9541
name: osteosclerotic myeloma
is_a: DOID:9538 ! multiple myeloma
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:9544
name: refractory plasma cell neoplasm
xref: NCI:C7024
xref: NCI:C7813
is_a: DOID:712 ! refractory hematologic cancer
is_a: DOID:9538 ! multiple myeloma
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:9547
name: non-secretory myeloma
is_a: DOID:9538 ! multiple myeloma
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:9550
name: indolent plasma cell myeloma
def: "A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm. (DO)" [https://seer.cancer.gov/seertools/hemelymph/51f6cf5ae3e27c3994bd54aa/ "DO"]
synonym: "indolent myeloma" EXACT []
xref: NCI:C7150
is_a: DOID:9538 ! multiple myeloma
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:9551
name: smoldering myeloma
def: "A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody. (DO)" [http://www.cancer.gov/dictionary/?CdrID=413932 "DO"]
synonym: "asymptomatic myeloma" EXACT []
synonym: "asymptomatic plasma cell myeloma" EXACT []
synonym: "smoldering multiple myeloma" EXACT []
synonym: "smoldering plasma cell myeloma" EXACT []
xref: EFO:0003073
xref: RDO:9002156
is_a: DOID:9538 ! multiple myeloma
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:9553
name: adrenal gland disease
def: "An endocrine system disease that is located_in the adrenal gland. (DO)" [http://en.wikipedia.org/wiki/Adrenal_gland_disease "DO"]
synonym: "adrenal gland diseases" EXACT []
xref: EFO:0005539
xref: ICD10CM:E27.9
xref: ICD9CM:255.9
xref: MESH:D000307
xref: NCI:C26690
is_a: DOID:28 ! endocrine system disease

[Term]
id: DOID:956
name: peripheral nerve schwannoma
xref: NCI:C41430
is_a: DOID:3192 ! neurilemmoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9561
name: nasopharyngeal disease
def: "Pathological processes involving the NASOPHARYNX." [MESH:D009302]
synonym: "Diseases of Nasopharynx" EXACT []
synonym: "nasopharyngeal diseases" EXACT []
synonym: "Nasopharynx Disease" EXACT []
synonym: "Nasopharynx Diseases" EXACT []
xref: MESH:D009302
xref: NCI:C35723
is_a: DOID:9004130 ! Pharyngeal Diseases
is_a: DOID:974 ! upper respiratory tract disease

[Term]
id: DOID:9562
name: primary ciliary dyskinesia
def: "A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. (DO)" [http://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia "DO"]
synonym: "immotile ciliary syndrome" EXACT []
xref: GARD:4484
xref: MIM:PS244400
xref: NCI:C84638
xref: ORDO:244
is_a: DOID:9001591 ! Ciliary Motility Disorders
created_by: rgd
creation_date: 2017-09-20T00:00:00Z

[Term]
id: DOID:9563
name: bronchiectasis
def: "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. (DO)" [http://www.merck.com/mmhe/sec04/ch047/ch047a.html "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiectasis "DO"]
synonym: "bronchiectases" EXACT []
synonym: "cystic fibrosis-like syndrome" RELATED []
synonym: "Polynesian bronchiectasis" EXACT []
xref: ICD10CM:J47
xref: ICD10CM:J47.9
xref: ICD9CM:494
xref: MESH:D001987
xref: MIM:PS211400
xref: MONDO:0004822
xref: NCI:C84475
xref: ORDO:60033
is_a: DOID:1176 ! bronchial disease

[Term]
id: DOID:9565
name: dextrocardia
def: "A congenital defect in which the heart is located on the right side of the THORAX instead of on the left side (levocardia, the normal position). When dextrocardia is accompanied with inverted HEART ATRIA, a right-sided STOMACH, and a left-sided LIVER, the combination is called dextrocardia with SITUS INVERSUS. Dextrocardia may adversely affect other thoracic organs." [MESH:D003914]
synonym: "Dextrocardias" EXACT []
synonym: "heart predominantly in right hemithorax" EXACT []
xref: GARD:1827
xref: ICD10CM:Q24.0
xref: MESH:D003914
xref: NCI:C84669
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:758 ! situs inversus

[Term]
id: DOID:9574
name: choanal atresia
def: "A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous." [MESH:D002754]
synonym: "atresia of nares" EXACT []
synonym: "Choanal Atresias" EXACT []
synonym: "imperforate nares" EXACT []
xref: ICD10CM:Q30.0
xref: ICD9CM:748.0
xref: MESH:D002754
is_a: DOID:2163 ! nasal cavity disease
is_a: DOID:9007870 ! Respiratory System Abnormalities

[Term]
id: DOID:9577
name: neonatal candidiasis
def: "A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ "DO"]
synonym: "neonatal candida infection" EXACT []
synonym: "neonatal monilia infection" EXACT []
synonym: "neonatal moniliasis" EXACT []
xref: ICD10CM:P37.5
xref: ICD9CM:771.7
xref: NCI:C116810
is_a: DOID:1508 ! candidiasis
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:9584
name: Venezuelan equine encephalitis
def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region. (DO)" [http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO"]
synonym: "Venezuelan equine encephalomyelitides" EXACT []
synonym: "Venezuelan equine fever" EXACT []
xref: EFO:0007534
xref: GARD:6355
xref: ICD10CM:A92.2
xref: ICD9CM:066.2
xref: MESH:D004685
xref: NCI:C35121
is_a: DOID:9002578 ! Equine Encephalomyelitis

[Term]
id: DOID:9588
name: encephalitis
def: "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. (DO)" [http://en.wikipedia.org/wiki/Encephalitis "DO", http://www.mayoclinic.org/diseases-conditions/encephalitis/basics/definition/con-20021917 "DO", http://www.nlm.nih.gov/medlineplus/encephalitis.html "DO"]
synonym: "Brain Inflammation" EXACT []
synonym: "brain inflammations" EXACT []
synonym: "noninfective encephalitis" NARROW []
synonym: "Rasmussen's Syndrome" EXACT []
synonym: "Rasmussen Encephalitis" EXACT []
synonym: "Rasmussen syndrome" EXACT []
xref: EFO:0020926
xref: MESH:D004660
xref: NCI:C26760
is_a: DOID:9005372 ! Inflammation
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9589
name: urethral calculus
synonym: "urethral stone" EXACT []
xref: ICD10CM:N21.1
xref: ICD9CM:594.2
xref: NCI:C26995
is_a: DOID:732 ! urethral disease
is_a: DOID:9590 ! lower urinary tract calculus
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:959
name: esophagus squamous cell papilloma
xref: NCI:C5344
xref: RDO:9003799
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:139 ! squamous cell papilloma
is_a: DOID:9000117 ! Esophageal Neoplasms
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:9590
name: lower urinary tract calculus
def: "A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. (DO)" [http://en.wikipedia.org/wiki/Calculus_%28medicine%29 "DO"]
xref: ICD10CM:N21
xref: ICD10CM:N21.9
xref: ICD9CM:594
xref: RDO:9004849
is_a: DOID:9003311 ! Urinary Calculi
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:9597
name: Krukenberg carcinoma
def: "An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue. (DO)" [https://en.wikipedia.org/wiki/Krukenberg_tumor "DO", https://www.ncbi.nlm.nih.gov/books/NBK482284/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29113663 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29489206 "DO"]
synonym: "Krukenberg's tumor" EXACT []
synonym: "Krukenberg neoplasm" EXACT []
synonym: "Krukenbergs Tumor" EXACT []
synonym: "Krukenberg tumor" EXACT []
xref: EFO:1000316
xref: GARD:8627
xref: MESH:D007725
xref: NCI:C3153
is_a: DOID:2152 ! ovary epithelial cancer
is_a: DOID:3493 ! signet ring cell adenocarcinoma

[Term]
id: DOID:9598
name: fasciitis
def: "A connective tissue disease characterized by inflammation located in the fascia. (DO)" [https://en.wikipedia.org/wiki/Fasciitis "DO", https://www.mayoclinic.org/diseases-conditions/plantar-fasciitis/symptoms-causes/syc-20354846 "DO"]
synonym: "Fasciitides" EXACT []
synonym: "Fascitides" EXACT []
synonym: "Fascitis" EXACT []
xref: ICD10CM:M72.9
xref: ICD9CM:729.4
xref: MESH:D005208
xref: NCI:C50559
is_a: DOID:17 ! musculoskeletal system disease
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9005372 ! Inflammation

[Term]
id: DOID:9599
name: proliferative fasciitis
xref: NCI:C4728
xref: RDO:9003835
is_a: DOID:9598 ! fasciitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:96
name: staphyloenterotoxemia
def: "A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22091892/ "DO"]
synonym: "Staphylococcal food poisoning" EXACT []
synonym: "staphylococcal food poisonings" EXACT []
synonym: "staphylococcal toxaemia due to food" EXACT []
synonym: "staphyloenterotoxicosis" EXACT []
xref: EFO:0007497
xref: ICD10CM:A05.0
xref: ICD9CM:005.0
xref: MESH:D013202
xref: NCI:C35037
is_a: DOID:0050338 ! primary bacterial infectious disease
is_a: DOID:9006436 ! Foodborne Diseases
is_a: DOID:9008885 ! Staphylococcal Infections

[Term]
id: DOID:960
name: esophagus leiomyoma
xref: NCI:C3866
xref: RDO:9003399
is_a: DOID:0050624 ! gastrointestinal system benign neoplasm
is_a: DOID:127 ! leiomyoma
is_a: DOID:9000117 ! Esophageal Neoplasms
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:9600
name: plantar fasciitis
def: "Inflammation of the plantar fascia (aponeurosis) on the bottom of the foot causing heel pain. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with HEEL SPUR, they do not appear to be causally related." [MESH:D036981]
synonym: "Chronic Plantar Fasciitis" EXACT []
synonym: "Heel Spur Syndrome" EXACT []
synonym: "Policeman's Heel" EXACT []
synonym: "Policeman's Heels" EXACT []
synonym: "Policeman Heel" EXACT []
synonym: "Policemans Heel" EXACT []
xref: EFO:1001909
xref: MESH:D036981
is_a: DOID:9007310 ! Foot Diseases
is_a: DOID:9598 ! fasciitis

[Term]
id: DOID:9601
name: ischemic fasciitis
synonym: "atypical decubital fibroplasia" EXACT []
xref: NCI:C6483
xref: RDO:9003839
is_a: DOID:9598 ! fasciitis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:9602
name: necrotizing fasciitis
def: "A fulminating bacterial infection of the deep layers of the skin and FASCIA. It can be caused by many different organisms, with STREPTOCOCCUS PYOGENES being the most common." [MESH:D019115]
synonym: "Necrotizing Fasciitides" EXACT []
synonym: "Necrotizing Fascitides" EXACT []
synonym: "Necrotizing Fascitis" EXACT []
xref: GARD:6454
xref: ICD10CM:M72.6
xref: ICD9CM:728.86
xref: MESH:D019115
xref: NCI:C84916
xref: RDO:0007257
is_a: DOID:9003209 ! Bacterial Skin Diseases
is_a: DOID:9598 ! fasciitis

[Term]
id: DOID:9603
name: intravascular fasciitis
synonym: "intravascular pseudosarcomatous fasciitis" EXACT []
xref: NCI:C4729
xref: RDO:9003842
is_a: DOID:7327 ! pseudosarcomatous fibromatosis
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:961
name: neurofibroma of the esophagus
xref: NCI:C5704
is_a: DOID:5041 ! esophageal cancer
is_a: DOID:962 ! neurofibroma
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:9617
name: orthostatic proteinuria
synonym: "Postural albuminuria" EXACT [SNOMEDCT_2005_07_31:77872002]
xref: ICD10CM:R80.2
xref: ICD9CM:593.6
xref: RDO:9003107
is_a: DOID:557 ! kidney disease
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:962
name: neurofibroma
def: "A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)" [MESH:D009455]
synonym: "dermal neurofibroma" NARROW []
synonym: "Neurofibromas" EXACT []
xref: EFO:0000397
xref: EFO:0000622
xref: GARD:7191
xref: ICDO:9540/0
xref: MESH:D009455
xref: NCI:C3272
xref: RDO:0006211
is_a: DOID:3193 ! peripheral nerve sheath neoplasm
is_a: DOID:9004217 ! Nerve Sheath Neoplasms

[Term]
id: DOID:9620
name: vesicoureteral reflux
alt_id: MIM:193000
alt_id: MIM:614317
def: "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. (DO)" [http://en.wikipedia.org/wiki/Vesicoureteral_reflux "DO", http://ghr.nlm.nih.gov/glossary=vesicoureteralreflux "DO", http://www.mayoclinic.org/diseases-conditions/vesicoureteral-reflux/basics/definition/con-20031544?_ga=1.233953949.2017809229.1415219956 "DO"]
synonym: "vesico-ureteral reflux" EXACT []
synonym: "vesicoureteral reflux 1" EXACT []
synonym: "VUR" EXACT []
synonym: "VUR1" EXACT []
xref: EFO:0007536
xref: ICD10CM:N13.7
xref: ICD10CM:N13.70
xref: ICD9CM:593.7
xref: MESH:D014718
xref: MIM:PS193000
xref: NCI:C84467
xref: ORDO:289365
is_a: DOID:1426 ! ureteral disease
is_a: DOID:365 ! bladder disease

[Term]
id: DOID:9621
name: non-congenital cyst of kidney
xref: ICD10CM:N28.1
xref: ICD9CM:593.2
is_a: DOID:0080015 ! physical disorder
is_a: DOID:2975 ! cystic kidney disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9622
name: kidney hypertrophy
xref: ICD10CM:N28.81
xref: ICD9CM:593.1
xref: NCI:C122991
xref: RDO:9004665
is_a: DOID:557 ! kidney disease
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:963
name: episodic ataxia
def: "A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. (DO)" [http://en.wikipedia.org/wiki/Episodic_ataxia "DO", http://ghr.nlm.nih.gov/condition/episodic-ataxia "DO"]
synonym: "HEREDITARY EPISODIC ATAXIA" EXACT []
xref: EFO:1000638
xref: GARD:9851
xref: MESH:C580065
xref: MIM:PS160120
xref: ORDO:211062
is_a: DOID:0050951 ! hereditary ataxia

[Term]
id: DOID:9631
name: Pelger-Huet anomaly
alt_id: MIM:169400
def: "A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12118250 "DO"]
synonym: "ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities" EXACT []
synonym: "Pelger Huet nuclear anomaly" EXACT []
synonym: "Pelger Huët Anomaly" EXACT []
synonym: "Pelger Huët Nuclear Anomaly" EXACT []
synonym: "PHA" EXACT []
synonym: "pseudo Pelger Huet anomaly" EXACT []
synonym: "pseudo Pelger Huet nuclear anomaly" EXACT []
synonym: "pseudo Pelger Huët anomaly" EXACT []
xref: EFO:1001093
xref: GARD:9148
xref: MESH:D010381
xref: NCI:C85002
is_a: DOID:0050736 ! autosomal dominant disease
is_a: DOID:9500 ! leukocyte disease

[Term]
id: DOID:9637
name: stomatitis
def: "A mouth disease that is characterized by inflammation of the mouth and lips. (DO)" [https://en.wikipedia.org/wiki/Stomatitis "DO"]
synonym: "Oral Mucositides" EXACT []
synonym: "Oral Mucositis" EXACT []
synonym: "Oromucositides" EXACT []
synonym: "Oromucositis" EXACT []
synonym: "Stomatitides" EXACT []
xref: EFO:0009688
xref: EFO:1001904
xref: MESH:D013280
xref: NCI:C26887
is_a: DOID:403 ! mouth disease
is_a: DOID:9297 ! lip disease

[Term]
id: DOID:9640
name: sarcocystosis
def: "A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy. (DO)" [http://www.cfsph.iastate.edu/Factsheets/pdfs/sarcocystosis.pdf "DO", http://www.dpd.cdc.gov/DPDx/HTML/Sarcocystosis.htm "DO"]
synonym: "sarcocystoses" EXACT []
synonym: "sarcosporidioses" EXACT []
synonym: "sarcosporidiosis" EXACT []
xref: EFO:0007476
xref: ICD9CM:136.5
xref: MESH:D012523
xref: ORDO:54368
is_a: DOID:2113 ! coccidiosis

[Term]
id: DOID:9643
name: babesiosis
def: "A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. (DO)" [http://en.wikipedia.org/wiki/Babesiosis "DO"]
synonym: "Babesia Parasite Infection" EXACT []
synonym: "babesia parasite infections" EXACT []
synonym: "Babesiases" EXACT []
synonym: "Babesiasis" EXACT []
synonym: "Babesioses" EXACT []
synonym: "Human Babesioses" EXACT []
synonym: "Human Babesiosis" EXACT []
synonym: "infection by babesia" EXACT []
synonym: "Piroplasmoses" EXACT []
synonym: "piroplasmosis" EXACT []
xref: EFO:0007162
xref: GARD:5878
xref: ICD10CM:B60.0
xref: ICD9CM:088.82
xref: MESH:D001404
xref: NCI:C84581
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9004157 ! Protozoan Infections, Animal

[Term]
id: DOID:9649
name: congenital nystagmus
def: "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. (DO)" [http://en.wikipedia.org/wiki/Nystagmus "DO", http://ghr.nlm.nih.gov/glossary=nystagmus "DO", http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/approach_to_the_patient_with_ear_problems/evaluation_of_ear_disorders.html#v942669 "DO"]
synonym: "infantile nystagmus" EXACT []
xref: EFO:0007217
xref: ICD10CM:H55.01
xref: ICD9CM:379.51
xref: MESH:D020417
xref: MIM:PS310700
xref: ORDO:651
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9650 ! pathologic nystagmus

[Term]
id: DOID:9650
name: pathologic nystagmus
def: "Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)" [MESH:D009759]
synonym: "conjugate nystagmus" EXACT []
synonym: "Convergence Nystagmus" EXACT []
synonym: "Fatigable Positional Nystagmus" EXACT []
synonym: "Horizontal Nystagmus" EXACT []
synonym: "Jerk Nystagmus" EXACT []
synonym: "Multidirectional Nystagmus" EXACT []
synonym: "Non Fatigable Positional Nystagmus" EXACT []
synonym: "Nystagmus" EXACT []
synonym: "Pendular Nystagmus" EXACT []
synonym: "Periodic Alternating Nystagmus" EXACT []
synonym: "Permanent Nystagmus" EXACT []
synonym: "Rebound Nystagmus" EXACT []
synonym: "Retraction Nystagmus" EXACT []
synonym: "Rotary Nystagmus" EXACT []
synonym: "Rotational Nystagmus" EXACT []
synonym: "See Saw Nystagmus" EXACT []
synonym: "Symptomatic Nystagmus" EXACT []
synonym: "Temporary Nystagmus" EXACT []
synonym: "Unidirectional Nystagmus" EXACT []
synonym: "vertical nystagmus" EXACT []
xref: ICD10CM:H55.0
xref: ICD9CM:379.50
xref: MESH:D009759
xref: NCI:C3282
is_a: DOID:1279 ! ocular motility disease

[Term]
id: DOID:9651
name: systolic heart failure
def: "Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying." [MESH:D054143]
synonym: "Systolic Heart Failures" EXACT []
xref: EFO:1001207
xref: ICD10CM:I50.20
xref: ICD9CM:428.2
xref: MESH:D054143
xref: RDO:0007661
is_a: DOID:6000 ! congestive heart failure

[Term]
id: DOID:9655
name: oral mucosa leukoplakia
def: "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK442013/ "DO"]
synonym: "Keratosis, Oral" EXACT []
synonym: "leukoplakia of tongue" NARROW []
synonym: "mouth mucous membrane leukoplakia" EXACT []
synonym: "Oral Leukokeratoses" EXACT []
synonym: "Oral Leukokeratosis" EXACT []
synonym: "Oral Leukoplakia" EXACT []
synonym: "Oral Leukoplakias" EXACT []
xref: EFO:0006884
xref: EFO:0006885
xref: ICD10CM:K13.2
xref: ICD10CM:K13.21
xref: ICD9CM:528.6
xref: MESH:D007972
xref: NCI:C3187
is_a: DOID:403 ! mouth disease
is_a: DOID:9005065 ! Leukoplakia
is_a: DOID:9007364 ! Mouth Neoplasms

[Term]
id: DOID:9663
name: aphthous stomatitis
def: "A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. (DO)" [http://en.wikipedia.org/wiki/Aphthous_stomatitis "DO"]
synonym: "aphtha" EXACT []
synonym: "Aphthae" EXACT []
synonym: "Aphthous Stomatitides" EXACT []
synonym: "Aphthous Ulcer" EXACT []
synonym: "aphthous ulceration" EXACT []
synonym: "Aphthous Ulcers" EXACT []
synonym: "Canker Sore" EXACT []
synonym: "Canker Sores" EXACT []
synonym: "oral aphthae" EXACT []
synonym: "oral aphthous ulcer" EXACT []
synonym: "Periadenitis Mucosa Necrotica Recurrens" EXACT []
xref: EFO:0003938
xref: GARD:5834
xref: ICD9CM:528.2
xref: MESH:D013281
xref: NCI:C62546
is_a: DOID:9637 ! stomatitis

[Term]
id: DOID:9667
name: placental abruption
def: "A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. (DO)" [http://en.wikipedia.org/wiki/Abruptio_placentae "DO"]
synonym: "abruptio placenta" EXACT []
synonym: "abruptio placentae" EXACT []
synonym: "placental abruptions" EXACT []
xref: EFO:1001754
xref: ICD10CM:O20.0
xref: ICD9CM:640.0
xref: MESH:D000037
xref: NCI:C112857
is_a: DOID:780 ! placenta disease
is_a: DOID:9000610 ! Obstetric Labor Complications

[Term]
id: DOID:9669
name: senile cataract
def: "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging. (DO)" [https://eyewiki.aao.org/Cataract "DO"]
synonym: "age-related cataract" EXACT []
xref: EFO:0006311
xref: ICD10CM:H25
xref: ICD9CM:366.1
xref: NCI:C35012
xref: RDO:9000046
is_a: DOID:83 ! cataract
is_a: DOID:9007801 ! Diseases of the Aged

[Term]
id: DOID:9672
name: noma
def: "A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" [MESH:D009625]
synonym: "Cancrum Oris" EXACT []
synonym: "Gangrenous Stomatitides" EXACT []
synonym: "Gangrenous Stomatitis" EXACT []
synonym: "Nomas" EXACT []
xref: EFO:1001063
xref: GARD:4001
xref: ICD10CM:A69.0
xref: ICD9CM:528.1
xref: MESH:D009625
xref: NCI:C34852
is_a: DOID:403 ! mouth disease
is_a: DOID:9673 ! ulcerative stomatitis

[Term]
id: DOID:9673
name: ulcerative stomatitis
synonym: "ulcerative stomatitides" EXACT []
xref: NCI:C35039
is_a: DOID:9637 ! stomatitis

[Term]
id: DOID:9675
name: pulmonary emphysema
def: "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls. (DO)" [https://my.clevelandclinic.org/health/diseases/9370-emphysema "DO", https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/pulmonary-emphysema.html "DO", https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=85&contentid=p01309 "DO"]
synonym: "Centriacinar Emphysema" EXACT []
synonym: "centriacinar emphysemas" EXACT []
synonym: "Centrilobular Emphysema" EXACT []
synonym: "centrilobular emphysemas" EXACT []
synonym: "Focal Emphysema" EXACT []
synonym: "focal emphysemas" EXACT []
synonym: "Panacinar Emphysema" EXACT []
synonym: "Panacinar Emphysemas" EXACT []
synonym: "panlobular emphysema" EXACT []
synonym: "panlobular emphysemas" EXACT []
synonym: "pulmonary emphysemas" EXACT []
xref: EFO:0000464
xref: ICD10CM:J43.8
xref: ICD9CM:492.8
xref: MESH:D011656
is_a: DOID:3083 ! chronic obstructive pulmonary disease
is_a: DOID:9002884 ! Emphysema

[Term]
id: DOID:9681
name: cervical incompetence
def: "A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term. (DO)" [http://en.wikipedia.org/wiki/Cervical_incompetence "DO"]
synonym: "cervix incompetence" EXACT []
synonym: "Incompetent Cervix" EXACT []
synonym: "uterine cervical incompetence" EXACT []
xref: EFO:0007202
xref: ICD10CM:N88.3
xref: ICD9CM:622.5
xref: MESH:D002581
xref: NCI:C50607
is_a: DOID:2253 ! cervix disease
is_a: DOID:9007479 ! Habitual Abortions

[Term]
id: DOID:9682
name: yellow fever
def: "A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. (DO)" [http://en.wikipedia.org/wiki/Yellow_fever "DO", http://www.who.int/mediacentre/factsheets/fs100/en/index.html "DO", https://www.cdc.gov/yellowfever/ "DO"]
synonym: "jungle yellow fever" EXACT []
synonym: "sylvan yellow fever" EXACT []
synonym: "sylvatic yellow fever" EXACT []
synonym: "urban yellow fever" EXACT []
synonym: "Yellow Fevers" EXACT []
xref: GARD:7914
xref: ICD10CM:A95
xref: ICD9CM:060
xref: MESH:D015004
xref: NCI:C35547
is_a: DOID:9004146 ! Flavivirus Infections
is_a: DOID:9007401 ! Viral Hemorrhagic Fevers
is_a: DOID:9007579 ! Arbovirus Infections

[Term]
id: DOID:9694
name: toxic myocarditis
def: "An acute myocarditis that is characterized by an underlying toxin insult to the myocardium that induces acute inflammation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27574633 "DO"]
xref: ICD9CM:422.93
is_a: DOID:3951 ! acute myocarditis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:9697
name: gonococcal keratitis
xref: ICD10CM:A54.33
xref: ICD9CM:098.43
is_a: DOID:4677 ! keratitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:9698
name: gonococcal endophthalmia
xref: ICD10CM:A54.39
xref: ICD9CM:098.42
is_a: DOID:4692 ! endophthalmitis
is_a: DOID:9005473 ! Bacterial Eye Infections
is_a: DOID:9008538 ! Neisseriaceae Infections
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9699
name: ophthalmia neonatorum
def: "A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge. (DO)" [https://en.wikipedia.org/wiki/Neonatal_conjunctivitis "DO"]
synonym: "gonococcal conjunctivitis" EXACT []
synonym: "gonococcal ophthalmia neonatorum" EXACT []
synonym: "neonatal conjunctivitis" EXACT []
xref: GARD:2546
xref: ICD10CM:P39.1
xref: ICD9CM:771.6
xref: MESH:D009878
xref: NCI:C116815
is_a: DOID:7551 ! gonorrhea
is_a: DOID:9003548 ! Infant, Newborn, Diseases
is_a: DOID:9700 ! bacterial conjunctivitis

[Term]
id: DOID:970
name: tenosynovitis
def: "An arthropathy that is characterized as an inflammation of the lining of the sheath that surrounds a tendon. (DO)" [https://medlineplus.gov/ency/article/001242.htm "DO"]
synonym: "inflammation of tendon sheath" EXACT []
synonym: "tenosynovitides" EXACT []
xref: EFO:1001435
xref: MESH:D013717
is_a: DOID:381 ! arthropathy
is_a: DOID:971 ! tendinitis

[Term]
id: DOID:9700
name: bacterial conjunctivitis
def: "Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia." [MESH:D003234]
synonym: "bacterial conjunctivitides" EXACT []
synonym: "mucopurulent conjunctivitides" EXACT []
synonym: "Mucopurulent Conjunctivitis" EXACT []
synonym: "purulent conjunctivitides" EXACT []
synonym: "purulent conjunctivitis" EXACT []
xref: EFO:1000829
xref: ICD10CM:H10.0
xref: MESH:D003234
xref: NCI:C53656
is_a: DOID:6195 ! conjunctivitis
is_a: DOID:9005473 ! Bacterial Eye Infections

[Term]
id: DOID:9709
name: rosacea conjunctivitis
xref: ICD10CM:H10.82
xref: ICD9CM:372.31
xref: MONDO:0004856
is_a: DOID:6195 ! conjunctivitis
is_a: DOID:8881 ! rosacea
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:971
name: tendinitis
def: "Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance." [MESH:D052256]
synonym: "tendinitides" EXACT []
synonym: "Tendinopathies" EXACT []
synonym: "Tendinopathy" EXACT []
synonym: "Tendinoses" EXACT []
synonym: "Tendinosis" EXACT []
synonym: "Tendonitides" EXACT []
synonym: "Tendonitis" EXACT []
synonym: "Tendonopathies" EXACT []
synonym: "Tendonopathy" EXACT []
synonym: "Tendonoses" EXACT []
synonym: "tendonosis" EXACT []
xref: EFO:1001434
xref: MESH:D052256
xref: NCI:C97141
is_a: DOID:0080000 ! muscular disease
is_a: DOID:633 ! myositis
is_a: DOID:9008331 ! Tendon Injuries

[Term]
id: DOID:9714
name: occlusion of gallbladder
synonym: "obstruction of gallbladder" EXACT []
xref: ICD10CM:K82.0
xref: ICD9CM:575.2
xref: NCI:C78308
is_a: DOID:0060262 ! gallbladder disease

[Term]
id: DOID:9717
name: hydrops of gallbladder
xref: ICD10CM:K82.1
xref: ICD9CM:575.3
is_a: DOID:0060262 ! gallbladder disease

[Term]
id: DOID:9719
name: neovascular inflammatory vitreoretinopathy
alt_id: MIM:193235
def: "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23055945 "DO"]
synonym: "ADNIV" EXACT []
synonym: "neovascular inflammatory vitreoretinopathies" EXACT []
synonym: "neovascular inflammatory vitreoretinopathy, autosomal dominant" EXACT []
synonym: "proliferative vitreoretinopathies" EXACT []
synonym: "proliferative vitreoretinopathy" EXACT []
synonym: "PVR" EXACT []
synonym: "retinitis proliferans" EXACT []
synonym: "VRNI" EXACT []
xref: EFO:1001129
xref: MESH:D018630
xref: ORDO:329211
is_a: DOID:5679 ! retinal disease
is_a: DOID:9720 ! vitreous disease

[Term]
id: DOID:9720
name: vitreous disease
def: "An eye and adnexa disease that is located in the vitreous of the eye. (DO)" [https://utswmed.org/conditions-treatments/vitreoretinal-diseases-and-surgery/ "DO"]
synonym: "vitreous body disease" EXACT []
xref: EFO:0008624
xref: ICD10CM:H43.39
xref: ICD9CM:379.24
is_a: DOID:530 ! eyelid disease
is_a: DOID:5614 ! eye disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9722
name: ophthalmia nodosa
xref: ICD10CM:H16.24
xref: ICD9CM:360.14
xref: RDO:9002908
is_a: DOID:5614 ! eye disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9723
name: vitreous abscess
def: "A vitreous disease that is characterized by an abscess located_in the vitreous of the eye. (DO)" [https://link.springer.com/chapter/10.1007/978-1-4614-7082-3_93 "DO"]
xref: ICD9CM:360.04
is_a: DOID:9720 ! vitreous disease
is_a: DOID:9724 ! purulent endophthalmitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9724
name: purulent endophthalmitis
xref: ICD10CM:H44.0
xref: ICD9CM:360.0
xref: RDO:9003023
is_a: DOID:4692 ! endophthalmitis
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9726
name: vitreous detachment
def: "Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." [MESH:D020255]
synonym: "Posterior Vitreous Detachment" EXACT []
synonym: "Posterior Vitreous Detachments" EXACT []
synonym: "Vitreous Detachments" EXACT []
xref: EFO:1001238
xref: MESH:D020255
xref: NCI:C50807
xref: RDO:0003342
is_a: DOID:5614 ! eye disease
is_a: DOID:9720 ! vitreous disease

[Term]
id: DOID:9733
name: renal tuberculosis
def: "An urogenital tuberculosis that results_in formation of granulomas located_in kidney. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736345/ "DO"]
synonym: "Renal Tuberculoses" EXACT []
synonym: "tuberculosis of kidney" EXACT []
xref: EFO:0007463
xref: ICD9CM:016.0
xref: MESH:D014398
xref: NCI:C123020
is_a: DOID:2149 ! urogenital tuberculosis
is_a: DOID:557 ! kidney disease

[Term]
id: DOID:9735
name: acute allergic mucoid otitis media
def: "A blue drum syndrome caused by an allergen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15301306 "DO"]
xref: ICD9CM:381.05
is_a: DOID:1205 ! allergic disease
is_a: DOID:9736 ! blue drum syndrome
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:9736
name: blue drum syndrome
def: "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. (DO)" [http://books.google.com/books?id=6qIZei3Da-wC&pg=PA84&lpg#v=onepage&q=&f=false "DO", http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false "DO"]
synonym: "acute mucoid otitis media" EXACT []
xref: ICD9CM:381.02
is_a: DOID:225 ! syndrome
is_a: DOID:3697 ! acute transudative otitis media
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:9739
name: eustachian tube disease
def: "A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be caused by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. (DO)" [http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false "DO"]
xref: EFO:0009667
xref: ICD9CM:381.8
xref: RDO:9003837
is_a: DOID:11180 ! non-suppurative otitis media
created_by: rgd
creation_date: 2017-10-26T00:00:00Z

[Term]
id: DOID:974
name: upper respiratory tract disease
def: "A respiratory system disease which involves the upper respiratory tract. (DO)" [http://en.wikipedia.org/wiki/Category\:Upper_respiratory_tract_diseases "DO", http://www.who.int/topics/respiratory_tract_diseases/en/ "DO"]
synonym: "upper respiratory tract disorder" EXACT []
xref: ICD9CM:478.19
xref: MONDO:0004867
is_a: DOID:1579 ! respiratory system disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:9740
name: postcholecystectomy syndrome
def: "A biliary tract disease characterized by the continuation or development of new gastrointestinal symptoms after cholecystectomy. (DO)" [https://en.wikipedia.org/wiki/Postcholecystectomy_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/29730174/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK539902/ "DO"]
synonym: "Post Cholecystectomy Syndrome" EXACT []
synonym: "Postcholecystectomy Syndromes" EXACT []
synonym: "post-cholecystectomy syndromes" EXACT []
synonym: "Post Choledochoduodenostomy Syndrome" EXACT []
synonym: "Postcholedochoduodenostomy Syndrome" EXACT []
synonym: "Post-Choledochoduodenostomy Syndromes" EXACT []
synonym: "Postcholedochoduodenostomy Syndromes" EXACT []
synonym: "Post Choledochojejunostomy Syndrome" EXACT []
synonym: "Postcholedochojejunostomy Syndrome" EXACT []
synonym: "Post-Choledochojejunostomy Syndromes" EXACT []
synonym: "Postcholedochojejunostomy Syndromes" EXACT []
synonym: "Post Choledochostomy Syndrome" EXACT []
synonym: "Postcholedochostomy Syndrome" EXACT []
synonym: "Post-Choledochostomy Syndromes" EXACT []
synonym: "postcholedochostomy syndromes" EXACT []
synonym: "sump syndrome" EXACT []
synonym: "sump syndromes" EXACT []
xref: EFO:1001117
xref: ICD10CM:K91.5
xref: ICD9CM:576.0
xref: MESH:D017562
is_a: DOID:225 ! syndrome
is_a: DOID:9000790 ! Postoperative Complications
is_a: DOID:9741 ! biliary tract disease

[Term]
id: DOID:9741
name: biliary tract disease
def: "A hepatobiliary disease that is located_in the biliary tract. (DO)" [https://my.clevelandclinic.org/departments/digestive/medical-professionals/hepatology/gallbladder-biliary-tract-disease "DO", MESH:D001660]
synonym: "biliary tract diseases" EXACT []
xref: EFO:0009534
xref: ICD10CM:K83.9
xref: ICD9CM:576.9
xref: MESH:D001660
is_a: DOID:3118 ! hepatobiliary disease

[Term]
id: DOID:9742
name: pelvic varices
def: "A varicose veins that is located_in the pelvis. (DO)" [https://en.wikipedia.org/wiki/Varicose_veins "DO"]
xref: ICD10CM:I86.2
xref: ICD9CM:456.5
is_a: DOID:799 ! varicose veins
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9743
name: diabetic neuropathy
def: "Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)" [MESH:D003929]
synonym: "Asymmetric Diabetic Proximal Motor Neuropathy" EXACT []
synonym: "diabetic amyotrophies" EXACT []
synonym: "Diabetic Amyotrophy" EXACT []
synonym: "diabetic asymmetric polyneuropathies" EXACT []
synonym: "Diabetic Asymmetric Polyneuropathy" EXACT []
synonym: "diabetic mononeuropathies" EXACT []
synonym: "Diabetic Mononeuropathy" EXACT []
synonym: "Diabetic Mononeuropathy Simplex" EXACT []
synonym: "Diabetic Mononeuropathy Simplices" EXACT []
synonym: "Diabetic Neuralgia" EXACT []
synonym: "Diabetic Neuralgias" EXACT []
synonym: "diabetic neuropathies" EXACT []
synonym: "painful diabetic neuropathies" EXACT []
synonym: "painful diabetic neuropathy" EXACT []
synonym: "symmetric diabetic proximal motor neuropathy" EXACT []
xref: EFO:1000783
xref: ICD9CM:250.6
xref: MESH:D003929
xref: NCI:C26748
is_a: DOID:574 ! peripheral nervous system disease
is_a: DOID:870 ! neuropathy
is_a: DOID:9002661 ! Diabetes Complications

[Term]
id: DOID:9744
name: type 1 diabetes mellitus
alt_id: MIM:222100
alt_id: MIM:300136
def: "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. (DO)" [http://en.wikipedia.org/wiki/Diabetes "DO", http://en.wikipedia.org/wiki/Diabetes_mellitus_type_1 "DO"]
synonym: "autoimmune diabetes" EXACT []
synonym: "brittle diabetes mellitus" EXACT []
synonym: "DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO" RELATED []
synonym: "diabetes mellitus, type I" EXACT []
synonym: "IDDM" EXACT []
synonym: "IDDM1" EXACT []
synonym: "IDDMX" EXACT []
synonym: "idiopathic type 1 diabetes" NARROW []
synonym: "insulin-dependent diabetes mellitus" EXACT []
synonym: "Insulin-Dependent Diabetes Mellitus 1" EXACT []
synonym: "Insulin-Dependent Diabetes Mellitus, X-Linked, Susceptibility to" RELATED []
synonym: "JOD DIABETES MELLITUS, INSULIN-DEPENDENT, 1" NARROW []
synonym: "JUVENILE-ONSET DIABETES" NARROW []
synonym: "juvenile-onset diabetes mellitus" EXACT []
synonym: "neonatal insulin-dependent diabetes mellitus" NARROW []
synonym: "sudden-onset diabetes mellitus" EXACT []
synonym: "T1D" EXACT []
synonym: "type 1 diabetes" EXACT []
synonym: "virus-induced diabetes" NARROW []
xref: EFO:0001359
xref: EFO:0009757
xref: GARD:10268
xref: MESH:D003922
xref: MONDO:0005147
xref: NCI:C2986
is_a: DOID:0060005 ! autoimmune disease of endocrine system
is_a: DOID:9351 ! diabetes mellitus

[Term]
id: DOID:9745
name: perianal hematoma
synonym: "external thrombosed haemorrhoids" EXACT []
synonym: "thrombosed external hemorrhoids" EXACT []
xref: ICD10CM:K64.5
xref: ICD9CM:455.4
is_a: DOID:9006013 ! Hematoma
is_a: DOID:9746 ! hemorrhoid
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:9746
name: hemorrhoid
def: "A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum. (DO)" [http://en.wikipedia.org/wiki/Hemorrhoid "DO", http://www.nlm.nih.gov/medlineplus/hemorrhoids.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/19725283 "DO"]
synonym: "hemorrhoidal disease" EXACT []
synonym: "hemorrhoids" EXACT []
xref: EFO:0009552
xref: ICD10CM:K64
xref: ICD9CM:455
xref: MESH:D006484
xref: NCI:C26792
is_a: DOID:3128 ! anus disease
is_a: DOID:37 ! skin disease
is_a: DOID:9742 ! pelvic varices

[Term]
id: DOID:9749
name: internal hemorrhoid
def: "A hemorrhoid that is located_in the rectum. (DO)" [https://www.mayoclinic.org/diseases-conditions/hemorrhoids/symptoms-causes/syc-20360268 "DO"]
xref: ICD9CM:455.6
is_a: DOID:9746 ! hemorrhoid
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:9754
name: ganglion or cyst of synovium/tendon/bursa
xref: ICD9CM:727.49
is_a: DOID:381 ! arthropathy
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:9765
name: emphysematous cholecystitis
def: "A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues, where gallbladder wall necrosis causes gas formation in the lumen or wall. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=choleysistitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=emphysematous "DO", https://radiopaedia.org/articles/emphysematous-cholecystitis?lang=us "DO"]
synonym: "gaseous pericholecystitis" EXACT []
xref: EFO:0007249
xref: MESH:D041882
xref: NCI:C35592
is_a: DOID:9004618 ! Gallbladder Disease 1
is_a: DOID:9007393 ! Acute Cholecystitis

[Term]
id: DOID:9766
name: xanthogranulomatous cholecystitis
def: "A cholecystitis characterized by nodules containing lipid-laden macrophages. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23991684/ "DO", https://pubmed.ncbi.nlm.nih.gov/26981227/ "DO"]
xref: GARD:9451
xref: MESH:C536762
xref: NCI:C35792
is_a: DOID:1949 ! cholecystitis
is_a: DOID:3345 ! xanthomatosis

[Term]
id: DOID:9767
name: myocardial stunning
def: "Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity." [MESH:D017682]
synonym: "Myocardial Hibernation" EXACT []
synonym: "Stunned Myocardium" EXACT []
xref: MESH:D017682
is_a: DOID:114 ! heart disease
is_a: DOID:5844 ! myocardial infarction
is_a: DOID:9000071 ! Signs and Symptoms

[Term]
id: DOID:9768
name: heart aneurysm
def: "A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture." [MESH:D006322]
synonym: "Cardiac Aneurysm" EXACT []
synonym: "Cardiac Aneurysms" EXACT []
synonym: "Heart Aneurysms" EXACT []
xref: EFO:1000959
xref: ICD10CM:I25.3
xref: MESH:D006322
is_a: DOID:114 ! heart disease
is_a: DOID:9001665 ! Aneurysm

[Term]
id: DOID:9771
name: transient neonatal thrombocytopenia
xref: ICD10CM:P61.0
xref: ICD9CM:776.1
xref: RDO:9002308
is_a: DOID:11245 ! transient neonatal neutropenia
is_a: DOID:1588 ! thrombocytopenia
is_a: DOID:9003548 ! Infant, Newborn, Diseases
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:9773
name: female breast upper-outer quadrant cancer
def: "A female breast cancer that is located_in the upper-outer quadrant of the breast. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/ "DO"]
xref: ICD10CM:C50.41
xref: ICD9CM:174.4
xref: RDO:9001818
is_a: DOID:0050671 ! female breast cancer
created_by: rgd
creation_date: 2017-09-01T00:00:00Z

[Term]
id: DOID:9775
name: diastolic heart failure
def: "Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling." [MESH:D054144]
synonym: "Diastolic Heart Failures" EXACT []
xref: EFO:1000899
xref: ICD10CM:I50.30
xref: ICD9CM:428.3
xref: MESH:D054144
is_a: DOID:6000 ! congestive heart failure

[Term]
id: DOID:9776
name: Senile atrophy of choroid
xref: ICD9CM:363.41
xref: RDO:9004889
is_a: DOID:980 ! choroidal sclerosis
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:9778
name: irritable bowel syndrome
def: "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. (DO)" [http://en.wikipedia.org/wiki/Irritable_bowel_syndrome "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/irritable-bowel-syndrome "DO"]
synonym: "IBD" EXACT []
synonym: "irritable bowel syndromes" EXACT []
synonym: "Irritable Colon" EXACT []
synonym: "Mucous Colitides" EXACT []
synonym: "mucous colitis" EXACT []
synonym: "psychogenic IBS" RELATED []
xref: EFO:0000555
xref: ICD10CM:K58
xref: ICD10CM:K58.9
xref: ICD9CM:564.1
xref: MESH:D043183
xref: NCI:C82343
is_a: DOID:225 ! syndrome
is_a: DOID:3877 ! functional colonic disease

[Term]
id: DOID:9779
name: bowel dysfunction
xref: ICD10CM:K59.9
xref: ICD9CM:564.9
is_a: DOID:5295 ! intestinal disease
created_by: rgd
creation_date: 2017-10-31T00:00:00Z

[Term]
id: DOID:9784
name: trichinosis
def: "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Trichinellosis.htm "DO"]
synonym: "human trichinelloses" EXACT []
synonym: "Human Trichinellosis" EXACT []
synonym: "trichinella spiralis infection" EXACT []
synonym: "Trichinelliases" EXACT []
synonym: "Trichinelliasis" EXACT []
synonym: "Trichinelloses" EXACT []
synonym: "trichinellosis" EXACT []
synonym: "trichinoses" EXACT []
xref: EFO:0007520
xref: ICD10CM:B75
xref: ICD9CM:124
xref: MESH:D014235
xref: NCI:C85199
is_a: DOID:9004683 ! Enoplida Infections

[Term]
id: DOID:9786
name: bulbar polio
def: "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty speaking, has symptom difficulty swallowing, and has symptom difficulty chewing. (DO)" [http://en.wikipedia.org/wiki/Poliomyelitis "DO"]
synonym: "bulbar poliomyelitis" EXACT []
synonym: "medullary involvement poliomyelitis" EXACT []
xref: EFO:0007186
xref: ICD9CM:045.0
xref: MESH:D011052
is_a: DOID:0050515 ! paralytic poliomyelitis

[Term]
id: DOID:9788
name: myositis fibrosa
synonym: "interstitial myositis" EXACT []
xref: ICD10CM:M60.1
xref: ICD9CM:728.81
xref: NCI:C26985
is_a: DOID:633 ! myositis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:979
name: angioid streaks of choroid
xref: ICD9CM:363.43
is_a: DOID:13401 ! angioid streaks
is_a: DOID:8466 ! retinal degeneration
is_a: DOID:980 ! choroidal sclerosis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:9790
name: toxocariasis
def: "A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Toxocariasis.htm "DO"]
synonym: "infection by toxascaris" EXACT []
synonym: "toxocara infection" EXACT []
synonym: "toxocariases" EXACT []
synonym: "visceral larva migrans" EXACT []
synonym: "visceral larva migrans syndrome" EXACT []
xref: EFO:0007516
xref: GARD:7788
xref: ICD10CM:B83.0
xref: MESH:D007816
xref: MESH:D014120
xref: NCI:C34758
is_a: DOID:114 ! heart disease
is_a: DOID:409 ! liver disease
is_a: DOID:5614 ! eye disease
is_a: DOID:66 ! muscle tissue disease
is_a: DOID:850 ! lung disease
is_a: DOID:9000395 ! Ascaridida Infections
is_a: DOID:9003940 ! Larva Migrans
is_a: DOID:9006372 ! Animal Helminthiasis
is_a: DOID:936 ! brain disease

[Term]
id: DOID:9794
name: hereditary choroidal atrophy
xref: ICD10CM:H31.2
xref: ICD9CM:363.5
xref: RDO:9003429
is_a: DOID:980 ! choroidal sclerosis

[Term]
id: DOID:9799
name: eye degenerative disease
synonym: "eye degenerative diseases" EXACT []
xref: ICD10CM:H44.5
xref: ICD9CM:360.4
is_a: DOID:1289 ! neurodegenerative disease
is_a: DOID:5614 ! eye disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:980
name: choroidal sclerosis
alt_id: MIM:215500
synonym: "CACD" EXACT []
synonym: "CACD1" EXACT []
synonym: "central areolar choroidal dystrophy" EXACT []
synonym: "central areolar choroidal dystrophy 1" EXACT []
synonym: "central areolar choroidal sclerosis" EXACT []
synonym: "choroidal degenerations" EXACT []
xref: ICD10CM:H31.10
xref: ICD9CM:363.4
xref: MESH:C535358
xref: MIM:PS215500
is_a: DOID:1417 ! choroid disease
is_a: DOID:9799 ! eye degenerative disease

[Term]
id: DOID:9801
name: tuberculous peritonitis
def: "A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation. (DO)" [http://books.google.com/books?id=130IVak1eCwC&pg=PA695&lpg=PA695&dq#v=onepage&q=&f=false "DO"]
synonym: "peritoneal tuberculosis" EXACT []
xref: EFO:0007529
xref: ICD10CM:A18.31
xref: ICD9CM:014.0
xref: MESH:D014395
is_a: DOID:404 ! gastrointestinal tuberculosis
is_a: DOID:8283 ! peritonitis

[Term]
id: DOID:9808
name: Goodpasture syndrome
def: "An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure. (DO)" [http://en.wikipedia.org/wiki/Goodpasteure%27s_syndrome "DO"]
synonym: "anti-GBM disease" EXACT []
synonym: "anti-glomerular basement membrane disease" EXACT []
synonym: "Goodpasture's syndrome" EXACT []
synonym: "Goodpastures syndrome" EXACT []
synonym: "lung purpura with nephritis" EXACT []
xref: EFO:0007290
xref: GARD:2551
xref: ICD10CM:M31.0
xref: ICD9CM:446.21
xref: MIM:233450
xref: NCI:C34649
xref: NCI:C84566
is_a: DOID:0060049 ! autoimmune disease of urogenital tract
is_a: DOID:225 ! syndrome
is_a: DOID:3082 ! interstitial lung disease
is_a: DOID:557 ! kidney disease
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:9809
name: hypersensitivity vasculitis
def: "A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers. (DO)" [https://rarediseases.info.nih.gov/diseases/7851/hypersensitivity-vasculitis "DO"]
synonym: "hypersensitivity vasculitides" EXACT []
xref: EFO:1000974
xref: GARD:7851
xref: ICD9CM:446.2
xref: NCI:C35119
is_a: DOID:1557 ! hypersensitivity reaction type III disease
is_a: DOID:865 ! vasculitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:981
name: diffuse secondary choroid atrophy
xref: ICD10CM:H31.12
xref: ICD9CM:363.42
xref: RDO:9004273
is_a: DOID:980 ! choroidal sclerosis
created_by: rgd
creation_date: 2017-10-30T00:00:00Z

[Term]
id: DOID:9810
name: polyarteritis nodosa
def: "A vasculitis that is characterized by necrotizing inflammation of medium or small arteries. (DO)" [https://en.wikipedia.org/wiki/Polyarteritis_nodosa "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029362/ "DO"]
synonym: "essential polyarteritides" EXACT []
synonym: "Essential Polyarteritis" EXACT []
synonym: "Necrotizing Arteritides" EXACT []
synonym: "Necrotizing Arteritis" EXACT []
synonym: "periarteritis nodosa" EXACT []
xref: EFO:0009012
xref: GARD:7360
xref: ICD10CM:M30.0
xref: ICD9CM:446.0
xref: MESH:D010488
xref: NCI:C26847
is_a: DOID:9002564 ! Arteritis
is_a: DOID:9003199 ! Systemic Vasculitis
is_a: DOID:9540 ! vascular skin disease

[Term]
id: DOID:9811
name: partial circumpapillary choroid dystrophy
xref: ICD9CM:363.51
is_a: DOID:9794 ! hereditary choroidal atrophy

[Term]
id: DOID:9820
name: central gyrate choroidal dystrophy
synonym: "Choroidal dystrophy, serpiginous" EXACT [MTHICD9_2006:363.54]
xref: ICD9CM:363.54
xref: RDO:9003432
is_a: DOID:9005836 ! Central Areolar Choroidal Dystrophy 2
is_a: DOID:9822 ! partial central choroid dystrophy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:9821
name: Choroideremia
alt_id: MIM:303100
def: "An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness." [MESH:D015794]
synonym: "CHM" EXACT []
synonym: "CHM-RELATED CONDITION" EXACT []
synonym: "CHOROIDAL SCLEROSIS" RELATED []
synonym: "choroideremias" EXACT []
synonym: "Choroideremia, Salla type" NARROW []
synonym: "progressive choroidal atrophy" EXACT []
synonym: "progressive tapetochoroidal dystrophies" EXACT []
synonym: "TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE" EXACT []
synonym: "TCD" EXACT []
xref: GARD:6061
xref: ICD10CM:H31.21
xref: ICD9CM:363.55
xref: MESH:D015794
xref: NCI:C34469
xref: ORDO:180
is_a: DOID:0050735 ! X-linked monogenic disease
is_a: DOID:1417 ! choroid disease
is_a: DOID:8466 ! retinal degeneration
is_a: DOID:9002525 ! Hereditary Eye Diseases

[Term]
id: DOID:9822
name: partial central choroid dystrophy
synonym: "central areolar choroidal dystrophy" EXACT []
synonym: "central areolar choroid dystrophy" EXACT []
synonym: "partial central choroidal dystrophy" EXACT []
xref: ICD9CM:363.53
is_a: DOID:9794 ! hereditary choroidal atrophy

[Term]
id: DOID:9827
name: radioulnar synostosis
alt_id: MIM:179300
synonym: "RADIOULNAR SYNOSTOSIS, NONSYNDROMIC, SUSCEPTIBILITY TO" RELATED []
xref: ICD9CM:755.53
xref: MESH:C562408
is_a: DOID:0080015 ! physical disorder
is_a: DOID:11971 ! synostosis

[Term]
id: DOID:9828
name: neonatal abstinence syndrome
def: "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. (DO)" [http://en.wikipedia.org/wiki/Neonatal_abstinence_syndrome "DO"]
synonym: "drug withdrawal syndrome in newborn" EXACT []
synonym: "Neonatal Abstinence Syndromes" EXACT []
synonym: "Neonatal Passive Addiction" EXACT []
synonym: "Neonatal Passive Addictions" EXACT []
synonym: "Neonatal Substance Withdrawal" EXACT []
synonym: "Neonatal Substance Withdrawals" EXACT []
synonym: "Neonatal Withdrawal Syndrome" EXACT []
synonym: "Neonatal Withdrawal Syndromes" EXACT []
xref: EFO:0005799
xref: ICD10CM:P96.1
xref: ICD9CM:779.5
xref: MESH:D009357
xref: NCI:C35808
xref: NCI:C87101
is_a: DOID:0060001 ! withdrawal disorder
is_a: DOID:225 ! syndrome
is_a: DOID:303 ! substance-related disorder
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9834
name: hyperopia
def: "A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. (DO)" [https://www.mayoclinic.org/diseases-conditions/farsightedness/symptoms-causes/syc-20372495 "DO"]
synonym: "far-sightedness" EXACT []
synonym: "farsightedness" EXACT []
synonym: "hypermetropia" EXACT []
xref: EFO:0006310
xref: ICD10CM:H52.0
xref: ICD9CM:367.0
xref: MESH:D006956
xref: MONDO:0004891
is_a: DOID:9835 ! refractive error

[Term]
id: DOID:9835
name: refractive error
def: "Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus." [MESH:D012030]
synonym: "ametropia" EXACT []
synonym: "ametropias" EXACT []
synonym: "refractive disorder" EXACT []
synonym: "refractive disorders" EXACT []
synonym: "refractive errors" EXACT []
xref: EFO:0003908
xref: ICD10CM:H52.7
xref: MESH:D012030
xref: MONDO:0004892
xref: NCI:C87145
is_a: DOID:5614 ! eye disease

[Term]
id: DOID:9837
name: hypertropia
synonym: "Hypertropias" EXACT []
xref: ICD10CM:H50.2
xref: ICD9CM:378.31
xref: NCI:C34716
is_a: DOID:540 ! strabismus
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9838
name: cyclotropia
synonym: "excyclotropia" EXACT []
synonym: "incyclotropia" EXACT []
xref: ICD10CM:H50.41
xref: ICD9CM:378.33
xref: MESH:C000721272
is_a: DOID:540 ! strabismus
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:9839
name: accommodative esotropia
xref: ICD10CM:H50.43
xref: ICD9CM:378.35
is_a: DOID:9840 ! esotropia
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9840
name: esotropia
def: "A strabismus that is characterized the eye which turns inward toward the nose. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cross-eye+ "DO"]
synonym: "convergence in manifest squint" EXACT []
synonym: "convergent strabismus" EXACT []
synonym: "crossed eyes" EXACT []
synonym: "cross eye" EXACT []
synonym: "cross-eyes" EXACT []
synonym: "Esodeviation" EXACT []
synonym: "Esodeviations" EXACT []
synonym: "Esophoria" EXACT []
synonym: "Esophorias" EXACT []
synonym: "Esotropias" EXACT []
synonym: "Intermittent Esotropia" EXACT []
synonym: "Intermittent Esotropias" EXACT []
synonym: "Internal Strabismus" EXACT []
synonym: "Primary Esotropia" EXACT []
synonym: "primary esotropias" EXACT []
synonym: "secondary esotropia" EXACT []
synonym: "secondary esotropias" EXACT []
xref: GARD:8235
xref: ICD10CM:H50.0
xref: ICD9CM:378.0
xref: MESH:D004948
xref: NCI:C34596
is_a: DOID:540 ! strabismus

[Term]
id: DOID:9841
name: hypotropia
xref: ICD9CM:378.32
xref: NCI:C42086
is_a: DOID:540 ! strabismus
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:9842
name: total circumpapillary dystrophy of choroid
xref: ICD9CM:363.52
is_a: DOID:9794 ! hereditary choroidal atrophy
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:9843
name: monofixation syndrome
xref: ICD10CM:H50.42
xref: ICD9CM:378.34
is_a: DOID:225 ! syndrome
is_a: DOID:540 ! strabismus
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:9847
name: peripheral vertigo
def: "A vestibular disease that is characterized by a sensation of motion or spinning that is often described as dizziness due to a problem in the part of the inner ear that controls balance. (DO)" [https://medlineplus.gov/ency/article/001432.htm "DO"]
synonym: "peripheral vertigos" EXACT []
xref: ICD10CM:H81.399
xref: ICD9CM:386.19
is_a: DOID:9007736 ! Vertigo

[Term]
id: DOID:9848
name: endolymphatic hydrops
def: "An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO." [MESH:D018159]
synonym: "labyrinthine hydrops" EXACT []
xref: EFO:1000918
xref: ICD10CM:H81.0
xref: MESH:D018159
is_a: DOID:9847 ! peripheral vertigo

[Term]
id: DOID:9849
name: Meniere's disease
alt_id: MIM:156000
def: "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. (DO)" [http://en.wikipedia.org/wiki/M%C3%A9ni%C3%A8re%27s_disease "DO"]
synonym: "auditory vertigo" EXACT []
synonym: "auditory vertigos" EXACT []
synonym: "Aural Vertigo" EXACT []
synonym: "Meniere's Syndrome" EXACT []
synonym: "Meniere disease" EXACT []
synonym: "Menieres Disease" EXACT []
synonym: "Menieres Syndrome" EXACT []
synonym: "Meniere Syndrome" EXACT []
synonym: "Mnire's vertigo" EXACT []
synonym: "Ménière's Disease" EXACT []
synonym: "Ménière's diseases" EXACT []
synonym: "Ménière's Vertigo" EXACT []
synonym: "Ménière's vertigos" EXACT []
synonym: "Ménière Disease" EXACT []
synonym: "Ménière diseases" EXACT []
synonym: "Ménières Disease" EXACT []
synonym: "Ménières Vertigo" EXACT []
synonym: "Ménière vertigo" EXACT []
synonym: "otogenic vertigo" EXACT []
synonym: "otogenic vertigos" EXACT []
xref: EFO:0006862
xref: GARD:10340
xref: ICD9CM:386.0
xref: MESH:D008575
xref: NCI:C185243
is_a: DOID:9848 ! endolymphatic hydrops

[Term]
id: DOID:9854
name: lingual-facial-buccal dyskinesia
synonym: "lingual facial buccal dyskinesias" EXACT []
synonym: "oro-facial dyskinesia" EXACT []
xref: ICD10CM:G24.4
xref: ICD9CM:333.82
is_a: DOID:9008675 ! Dyskinesias
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:9856
name: congenital syphilis
def: "A syphilis that results_in a multisystem infection in the fetus via the placenta. (DO)" [http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html "DO"]
synonym: "Hutchinson's Teeth" EXACT []
synonym: "Hutchinsons Teeth" EXACT []
synonym: "Hutchinson Teeth" EXACT []
xref: EFO:0007219
xref: ICD10CM:A50
xref: ICD9CM:090
xref: MESH:D013590
xref: NCI:C84649
is_a: DOID:0080015 ! physical disorder
is_a: DOID:4166 ! syphilis
is_a: DOID:9003548 ! Infant, Newborn, Diseases

[Term]
id: DOID:9857
name: interstitial keratitis
def: "A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation. (DO)" [https://en.wikipedia.org/wiki/Interstitial_keratitis "DO"]
xref: ICD10CM:H16.30
xref: ICD9CM:370.50
is_a: DOID:65 ! connective tissue disease
is_a: DOID:9858 ! deep keratitis
created_by: rgd
creation_date: 2017-10-20T00:00:00Z

[Term]
id: DOID:9858
name: deep keratitis
xref: ICD10CM:H16.3
xref: ICD9CM:370.5
is_a: DOID:4677 ! keratitis
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:986
name: alopecia areata
def: "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. (DO)" [http://en.wikipedia.org/wiki/Alopecia_areata "DO"]
synonym: "alopecia circumscripta" EXACT []
synonym: "circumscribed alopecia" EXACT []
xref: EFO:0004192
xref: GARD:5782
xref: ICD10CM:L63
xref: ICD9CM:704.01
xref: MESH:D000506
is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9861
name: miliary tuberculosis
def: "An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. (DO)" [http://en.wikipedia.org/wiki/Disseminated_tuberculosis "DO"]
synonym: "acute miliary tuberculosis" EXACT []
synonym: "disseminated tuberculosis" EXACT []
synonym: "generalized tuberculosis" EXACT []
synonym: "miliary tuberculoses" EXACT []
synonym: "tuberculosis miliaris disseminata" EXACT []
xref: EFO:0007368
xref: ICD10CM:A19
xref: ICD9CM:018
xref: MESH:D014391
xref: NCI:C35086
is_a: DOID:0050598 ! extrapulmonary tuberculosis

[Term]
id: DOID:9867
name: toxic maculopathy
synonym: "Toxic maculopathy of retina" EXACT []
xref: ICD10CM:H35.38
xref: ICD9CM:362.55
is_a: DOID:2007 ! degeneration of macula and posterior pole
created_by: rgd
creation_date: 2017-09-19T00:00:00Z

[Term]
id: DOID:9868
name: intestinal disaccharidase deficiency
xref: EFO:1000060
xref: ICD9CM:271.3
xref: NCI:C34731
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:5295 ! intestinal disease
created_by: rgd
creation_date: 2017-10-23T00:00:00Z

[Term]
id: DOID:9869
name: hereditary fructose intolerance syndrome
def: "A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20848650/ "DO", https://pubmed.ncbi.nlm.nih.gov/9610797/ "DO"]
synonym: "ALDOB deficiencies" EXACT []
synonym: "ALDOB Deficiency" EXACT []
synonym: "ALDOB-RELATED CONDITION" EXACT []
synonym: "aldolase B deficiencies" EXACT []
synonym: "Aldolase B Deficiency" EXACT []
synonym: "fructosaemia" EXACT []
synonym: "fructose-1,6-biphosphate aldolase deficiencies" EXACT []
synonym: "Fructose 1,6 Biphosphate Aldolase Deficiency" EXACT []
synonym: "Fructose-1,6-Bisphosphate Aldolase B Deficiency" EXACT []
synonym: "fructose-1-phosphate aldolase deficiencies" EXACT []
synonym: "Fructose 1 Phosphate Aldolase Deficiency" EXACT []
synonym: "Fructose Aldolase B Deficiency" EXACT []
synonym: "fructose intolerance" EXACT []
synonym: "Fructose Intolerances" EXACT []
synonym: "fructosemia" EXACT []
synonym: "fructosemias" EXACT []
synonym: "hereditary fructose intolerance" EXACT []
synonym: "hereditary fructose intolerances" EXACT []
xref: ICD10CM:E74.12
xref: ICD9CM:271.2
xref: MESH:D005633
xref: MIM:229600
xref: MONDO:0009249
xref: NCI:C84720
is_a: DOID:225 ! syndrome
is_a: DOID:9000875 ! Fructose Metabolism, Inborn Errors

[Term]
id: DOID:987
name: alopecia
alt_id: MIM:109200
alt_id: MIM:300042
alt_id: OMIA:000030
alt_id: OMIA:000031
def: "A hypotrichosis that is characterized by a loss of hair from the head or body. (DO)" [http://en.wikipedia.org/wiki/Alopecia "DO", http://www.omim.org/entry/109200?search=109200&highlight=109200 "DO"]
synonym: "AGA1" EXACT []
synonym: "AGA  BALDNESS, MALE PATTERN" NARROW []
synonym: "alopecia cicatrisata" EXACT []
synonym: "alopecia cicatrisatas" EXACT []
synonym: "Alopecia, color mutant" NARROW []
synonym: "ANDROGENETIC ALOPECIA" NARROW []
synonym: "androgenetic alopecia 1" EXACT []
synonym: "Baldness" EXACT []
synonym: "Female Pattern Baldness" EXACT []
synonym: "generic alopecia" EXACT []
synonym: "Hair Loss" EXACT []
synonym: "male pattern alopecia" EXACT []
synonym: "male pattern baldness" EXACT []
synonym: "MPB" NARROW []
synonym: "pattern baldness" EXACT []
synonym: "pseudopelade" EXACT []
xref: EFO:0003109
xref: ICD10CM:L65.9
xref: ICD9CM:704.0
xref: MESH:D000505
xref: MIM:PS203655
xref: MONDO:0004907
xref: NCI:C50575
is_a: DOID:4535 ! hypotrichosis
is_a: DOID:9005214 ! Anatomical Pathological Conditions

[Term]
id: DOID:9870
name: galactosemia
def: "A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. (DO)" [http://en.wikipedia.org/wiki/Galactosemia "DO"]
synonym: "DEFICIENCY OF UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE" EXACT []
synonym: "galactosaemia" EXACT []
synonym: "galactose intolerance" EXACT []
synonym: "GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT" NARROW []
synonym: "galactosemias" EXACT []
synonym: "Hereditary Galactokinase Deficiencies" NARROW []
synonym: "Hereditary Galactokinase Deficiency" NARROW []
synonym: "UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency" EXACT []
synonym: "UTP Hexose 1 Phosphate Uridylyltransferase Deficiency" EXACT []
synonym: "UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease" EXACT []
xref: GARD:2424
xref: ICD10CM:E74.21
xref: ICD9CM:271.1
xref: MESH:D005693
xref: MIM:PS230400
xref: NCI:C84723
xref: ORDO:352
is_a: DOID:2978 ! carbohydrate metabolic disorder
is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn

[Term]
id: DOID:9877
name: urethral gland abscess
xref: ICD10CM:N34.0
xref: ICD9CM:597.0
is_a: DOID:732 ! urethral disease
created_by: rgd
creation_date: 2017-11-10T00:00:00Z

[Term]
id: DOID:988
name: mitral valve prolapse
def: "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. (DO)" [http://en.wikipedia.org/wiki/Mitral_valve_prolapse "DO", http://ghr.nlm.nih.gov/glossary=mitralvalveprolapse "DO", http://www.merckmanuals.com/professional/cardiovascular_disorders/valvular_disorders/mitral_valve_prolapse_mvp.html "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/564/viewAbstract "DO"]
synonym: "Barlow's syndrome" EXACT []
synonym: "Barlow syndrome" EXACT []
synonym: "click murmur syndrome" EXACT []
synonym: "click-murmur syndromes" EXACT []
synonym: "floppy mitral valve" EXACT []
synonym: "floppy mitral valves" EXACT []
synonym: "mitral click murmur syndrome" EXACT []
synonym: "mitral leaflet syndrome" RELATED []
synonym: "mitral valve prolapses" EXACT []
synonym: "mitral valve prolapse syndrome" EXACT []
synonym: "myxomatous mitral valve prolapse" RELATED []
synonym: "prolapsed mitral valve" EXACT []
synonym: "prolapsed mitral valves" EXACT []
synonym: "systolic click murmur syndrome" EXACT []
xref: MESH:D008945
xref: MIM:PS157700
xref: NCI:C50655
is_a: DOID:61 ! mitral valve disease
is_a: DOID:9004382 ! Heart Valve Prolapse

[Term]
id: DOID:9880
name: cardiovascular syphilis
def: "A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO"]
synonym: "Syphilitic Aortitides" EXACT []
synonym: "Syphilitic Aortitis" EXACT []
xref: EFO:1001206
xref: ICD9CM:093.8
xref: MESH:D013589
is_a: DOID:4166 ! syphilis
is_a: DOID:8200 ! tertiary syphilis
is_a: DOID:9003237 ! Cardiovascular Infections

[Term]
id: DOID:9883
name: Becker muscular dystrophy
alt_id: DOID:9002338
alt_id: MESH:C570377
def: "A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis_in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19461958 "DO", https://www.omim.org/entry/300376 "DO"]
synonym: "atypical Becker muscular dystrophy" NARROW []
synonym: "Becker's muscular dystrophy" EXACT []
synonym: "benign congenital myopathy" EXACT []
synonym: "benign pseudohypertrophic muscular dystrophy" EXACT []
synonym: "BMD" EXACT []
synonym: "muscular dystrophy, Becker type" EXACT []
synonym: "pseudohypertrophic progressive muscular dystrophy, Becker type" EXACT []
xref: EFO:0000103
xref: GARD:5900
xref: MIM:300376
xref: MONDO:0010311
xref: NCI:C84587
xref: ORDO:98895
is_a: DOID:9884 ! muscular dystrophy
created_by: rgd
creation_date: 2017-09-27T00:00:00Z

[Term]
id: DOID:9884
name: muscular dystrophy
def: "A myopathy is characterized by progressive skeletal muscle weakness degeneration. (DO)" [http://en.wikipedia.org/wiki/Muscular_dystrophy "DO", http://www.ninds.nih.gov/disorders/md/md.htm "DO"]
synonym: "muscular dystrophies" EXACT []
synonym: "myodystrophica" EXACT []
synonym: "myodystrophicas" EXACT []
synonym: "myodystrophies" EXACT []
synonym: "myodystrophy" EXACT []
xref: EFO:0000757
xref: GARD:7922
xref: MESH:D009136
xref: MONDO:0020121
xref: NCI:C84910
is_a: DOID:0050692 ! Brody myopathy
is_a: DOID:423 ! myopathy

[Term]
id: DOID:9888
name: alternating esotropia
xref: ICD10CM:H50.05
xref: ICD9CM:378.05
is_a: DOID:9840 ! esotropia
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9892
name: median arcuate ligament syndrome
alt_id: MIM:116870
synonym: "Celiac artery compression syndrome" EXACT []
synonym: "Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm" EXACT []
synonym: "Harjola-Marable syndrome" EXACT []
synonym: "Marable's syndrome" EXACT []
xref: ICD10CM:I77.4
xref: ICD9CM:447.4
xref: MESH:D000074742
is_a: DOID:0050828 ! artery disease
is_a: DOID:225 ! syndrome
is_a: DOID:9001627 ! Pathologic Constriction

[Term]
id: DOID:9893
name: periodontosis
def: "An obsolete diagnosis that has been replaced by periodontitis." []
synonym: "periodontoses" EXACT []
xref: EFO:0000649
xref: ICD10CM:K05.4
xref: ICD9CM:523.5
xref: RDO:9002859
is_a: DOID:3388 ! periodontal disease
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:9898
name: villonodular synovitis
xref: ICD10CM:M12.20
xref: ICD9CM:719.2
is_a: DOID:2703 ! synovitis
is_a: DOID:381 ! arthropathy
created_by: rgd
creation_date: 2017-11-06T00:00:00Z

[Term]
id: DOID:990
name: congenital heart block
alt_id: MIM:234700
def: "An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22368629 "DO"]
synonym: "Congenital complete heart block" EXACT []
synonym: "Familial congenital heart block" EXACT []
synonym: "Isolated Congenital Heart Block" EXACT []
xref: GARD:6164
xref: ICD10CM:Q24.6
xref: ICD9CM:746.86
xref: MESH:C535758
is_a: DOID:0050820 ! atrioventricular block
is_a: DOID:0080015 ! physical disorder
is_a: DOID:9003163 ! Heart Block

[Term]
id: DOID:9903
name: meibomian cyst
def: "A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid. (DO)" [http://en.wikipedia.org/wiki/Chalazion "DO"]
synonym: "chalazia" EXACT []
synonym: "chalazion" EXACT []
synonym: "meibomian gland lipogranuloma" EXACT []
xref: EFO:0007363
xref: ICD10CM:H00.1
xref: ICD9CM:373.2
xref: MESH:D017043
xref: NCI:C26717
is_a: DOID:9007583 ! Cysts
is_a: DOID:9423 ! blepharitis

[Term]
id: DOID:9905
name: follicular mucinosis
def: "A disease of the pilosebaceous unit, presenting clinically as grouped follicular papules or plaques with associated hair loss. It is caused by mucinous infiltration of tissues, and usually involving the scalp, face, and neck. It may be primary (idiopathic) or secondary to mycosis fungoides or reticulosis." [MESH:D000507]
synonym: "alopecia mucinosa" EXACT []
synonym: "alopecia mucinosis" EXACT []
synonym: "follicular mucinoses" EXACT []
xref: EFO:1000701
xref: ICD10CM:L65.2
xref: MESH:D000507
xref: MONDO:0006551
xref: NCI:C82859
is_a: DOID:3141 ! mucinoses
is_a: DOID:9098 ! sebaceous gland disease
is_a: DOID:987 ! alopecia

[Term]
id: DOID:9908
name: internal hordeolum
xref: ICD10CM:H00.02
xref: ICD9CM:373.12
is_a: DOID:9909 ! hordeolum

[Term]
id: DOID:9909
name: hordeolum
def: "An eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection. (DO)" [http://en.wikipedia.org/wiki/Hordeolum "DO"]
synonym: "boil of eyelid" EXACT []
synonym: "furuncle of eyelid" EXACT []
synonym: "stye" EXACT []
synonym: "styes" EXACT []
xref: EFO:0007315
xref: ICD10CM:H00.01
xref: MESH:D006726
xref: NCI:C118722
is_a: DOID:530 ! eyelid disease
is_a: DOID:9005473 ! Bacterial Eye Infections

[Term]
id: DOID:9910
name: central corneal ulcer
def: "A corneal ulcer that is characterized by ulceration and opacification of the central cornea and is caused by minor trauma and subsequent infection by bacterial or mycotic organisms. (DO)" [https://en.wikipedia.org/wiki/Corneal_ulcer "DO"]
xref: ICD10CM:H16.01
xref: ICD9CM:370.03
is_a: DOID:8463 ! corneal ulcer
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9911
name: infected hydrocele
xref: ICD10CM:N43.1
xref: ICD9CM:603.1
is_a: DOID:9912 ! hydrocele
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:9912
name: hydrocele
def: "Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM." [MESH:D006848]
synonym: "scrotal hydrocele" EXACT []
synonym: "Scrotal Hydroceles" EXACT []
synonym: "testicular hydrocele" EXACT []
synonym: "Testicular Hydroceles" EXACT []
synonym: "Vaginal Hydrocele" RELATED []
synonym: "vaginal hydroceles" RELATED []
xref: EFO:1001859
xref: MESH:D006848
is_a: DOID:48 ! male reproductive system disease

[Term]
id: DOID:992
name: Omsk hemorrhagic fever
def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum. (DO)" [http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/omsk.htm "DO", http://www.phac-aspc.gc.ca/msds-ftss/msds113e-eng.php "DO", http://www.springerlink.com/content/r2120r64x8x4511q/fulltext.pdf "DO"]
xref: GARD:8254
xref: ICD10CM:A98.1
xref: ICD9CM:065.1
xref: MESH:D006481
is_a: DOID:9002098 ! Tick-Borne Diseases
is_a: DOID:9004146 ! Flavivirus Infections
is_a: DOID:9007401 ! Viral Hemorrhagic Fevers

[Term]
id: DOID:9923
name: developmental coordination disorder
def: "A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001533.htm "DO"]
synonym: "developmental coordination disorders" EXACT []
synonym: "motor skills disorder" EXACT []
synonym: "motor skills disorders" EXACT []
xref: ICD10CM:F82
xref: ICD9CM:315.4
xref: MESH:D019957
xref: NCI:C92561
is_a: DOID:0060038 ! specific developmental disorder
is_a: DOID:9004429 ! Neurodevelopmental Disorders

[Term]
id: DOID:9931
name: Waterhouse-Friderichsen syndrome
def: "An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. (DO)" [http://en.wikipedia.org/wiki/Waterhouse-Friderichsen_syndrome "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=waterhouse "DO"]
synonym: "fulminant meningococcal sepsis with adrenal apoplexy" EXACT []
synonym: "meningococcal hemorrhagic adrenalitides" EXACT []
synonym: "meningococcal hemorrhagic adrenalitis" EXACT []
synonym: "meningococcal waterhouse Friderichsen syndrome" EXACT []
synonym: "purpura fulminans (Waterhouse-Friderichsen syndrome)" EXACT []
synonym: "Waterhouse Friederichsen syndrome" EXACT []
synonym: "WFS" EXACT []
xref: EFO:0007544
xref: GARD:9449
xref: MESH:D014884
xref: NCI:C85225
is_a: DOID:0080176 ! meningococcal meningitis
is_a: DOID:2213 ! hemorrhagic disease
is_a: DOID:225 ! syndrome
is_a: DOID:3326 ! purpura
is_a: DOID:9008622 ! Adrenal Insufficiency

[Term]
id: DOID:9935
name: chronic inflammation of lacrimal passage
def: "A lacrimal apparatus disease that is characterized by longstanding inflammation of the lacrimal passage, and has_symptom pain, increased or decreased tearing, and swelling between the eye and nose. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6856241 "DO"]
xref: ICD10CM:H04.4
xref: ICD9CM:375.4
is_a: DOID:1400 ! lacrimal apparatus disease
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:9936
name: chronic canaliculitis
xref: ICD10CM:H04.42
xref: ICD9CM:375.41
is_a: DOID:9003523 ! Canaliculitis
is_a: DOID:9935 ! chronic inflammation of lacrimal passage
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:9937
name: chronic dacryocystitis
xref: ICD10CM:H04.41
xref: ICD9CM:375.42
is_a: DOID:9935 ! chronic inflammation of lacrimal passage
is_a: DOID:9938 ! dacryocystitis
created_by: rgd
creation_date: 2017-10-24T00:00:00Z

[Term]
id: DOID:9938
name: dacryocystitis
def: "An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923200/ "DO"]
synonym: "dacryocystitides" EXACT []
xref: ICD10CM:H04.30
xref: ICD9CM:375.30
xref: MESH:D003607
xref: NCI:C34521
is_a: DOID:1400 ! lacrimal apparatus disease
is_a: DOID:6970 ! acute inflammation of lacrimal passage

[Term]
id: DOID:9939
name: dacryocystocele
synonym: "lacrimal mucocele" EXACT []
xref: ICD9CM:375.43
xref: NCI:C98968
is_a: DOID:9004508 ! Mucocele
is_a: DOID:9935 ! chronic inflammation of lacrimal passage
created_by: rgd
creation_date: 2017-11-03T00:00:00Z

[Term]
id: DOID:9942
name: lymph node disease
xref: NCI:C35346
xref: RDO:9002657
is_a: DOID:75 ! lymphatic system disease
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:9945
name: constant exophthalmos
xref: ICD10CM:H05.24
xref: ICD9CM:376.31
xref: RDO:9002978
is_a: DOID:930 ! orbital disease
created_by: rgd
creation_date: 2017-10-19T00:00:00Z

[Term]
id: DOID:9946
name: steroid-induced glaucoma
def: "A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577123/ "DO"]
synonym: "corticosteroid-induced glaucoma" EXACT []
xref: ICD9CM:365.3
is_a: DOID:1686 ! glaucoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9948
name: residual stage corticosteroid-induced glaucoma
xref: ICD9CM:365.32
xref: RDO:9003545
is_a: DOID:9946 ! steroid-induced glaucoma
created_by: rgd
creation_date: 2017-10-25T00:00:00Z

[Term]
id: DOID:9952
name: acute lymphoblastic leukemia
alt_id: DOID:5600
alt_id: DOID:9006123
def: "A acute leukemia that is characterized by over production of lymphoblasts. (DO)" [http://www.cancer.gov/dictionary?CdrID=46332 "DO"]
synonym: "acute lymphoblastic leukaemia" EXACT []
synonym: "acute lymphoblastic leukemia, adult" EXACT []
synonym: "acute lymphoblastic leukemia, L1" EXACT []
synonym: "acute lymphoblastic leukemia, L2" EXACT []
synonym: "acute lymphoblastic leukemia, Philadelphia-positive" EXACT []
synonym: "acute lymphoblastic leukemia, susceptibility to" RELATED []
synonym: "acute lymphoblastic leukemia, susceptibility to, 1" RELATED []
synonym: "acute lymphoblastic leukemia, susceptibility to, 2" RELATED []
synonym: "acute lymphoblastic leukemia, susceptibility to, 3" RELATED []
synonym: "acute lymphocytic leukaemia" EXACT []
synonym: "acute lymphocytic leukemia" EXACT []
synonym: "acute lymphocytic leukemia, L1" EXACT []
synonym: "acute lymphocytic leukemia, L2" EXACT []
synonym: "acute lymphocytic leukemia, susceptibility to, 1" RELATED []
synonym: "acute lymphocytic leukemia, susceptibility to, 2" RELATED []
synonym: "acute lymphoid leukemia" EXACT []
synonym: "ALL" EXACT []
synonym: "ALL1" NARROW []
synonym: "ALL2" EXACT []
synonym: "ALL3" NARROW []
synonym: "L1 Lymphocytic Leukemia" EXACT []
synonym: "L2 Lymphocytic Leukemia" EXACT []
synonym: "LEUKEMIA, ACUTE LYMPHOBLASTIC, B-HYPERDIPLOID, SUSCEPTIBILITY TO" NARROW []
synonym: "lymphoblastic leukemia" EXACT []
synonym: "lymphoblastic leukemias" EXACT []
synonym: "precursor cell lymphoblastic leukemia-lymphoma" EXACT []
synonym: "precursor lymphoblastic lymphoma/leukemia" EXACT []
xref: EFO:0000219
xref: EFO:0000220
xref: EFO:0009119
xref: GARD:522
xref: ICD10CM:C91.00
xref: ICD9CM:204.0
xref: MESH:D054198
xref: MIM:613065
xref: MIM:613067
xref: MIM:615545
xref: MONDO:0004967
xref: NCI:C3167
xref: NCI:C7055
xref: ORDO:513
is_a: DOID:12603 ! acute leukemia
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:9953
name: acute biphenotypic leukemia
alt_id: MIM:159555
def: "An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29021517 "DO"]
synonym: "acute B and T cell leukemia" EXACT []
synonym: "acute biphenotypic leukemias" EXACT []
synonym: "acute lymphocytic leukemia, B and T cell" EXACT []
synonym: "B and T cell acute lymphoblastic leukemia" EXACT []
synonym: "B- and T-cell mixed leukemia" EXACT []
synonym: "Hybrid Acute Leukemia" EXACT []
synonym: "hybrid acute leukemias" EXACT []
synonym: "Leukemia, Lymphocytic, Acute, Mixed Cell" EXACT []
synonym: "Leukemia, Myeloid/Lymphoid" EXACT []
synonym: "mixed-cell leukemia" EXACT []
synonym: "mixed-cell leukemias" EXACT []
synonym: "mixed-lineage acute leukemia" EXACT []
synonym: "mixed lineage acute leukemias" EXACT []
synonym: "mixed phenotype acute leukemia" EXACT []
synonym: "MPAL" EXACT []
xref: EFO:1000828
xref: ICD10CM:C95.0
xref: ICDO:9805/3
xref: MESH:D015456
xref: NCI:C4673
xref: NCI:C82179
is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma
is_a: DOID:12603 ! acute leukemia

[Term]
id: DOID:9954
name: null-cell leukemia
synonym: "null-cell acute lymphoblastic leukaemia" EXACT []
synonym: "null-cell acute lymphoblastic leukemia" EXACT []
synonym: "null-cell leukaemia" EXACT []
is_a: DOID:9952 ! acute lymphoblastic leukemia
created_by: rgd
creation_date: 2017-09-21T00:00:00Z

[Term]
id: DOID:9955
name: hypoplastic left heart syndrome
def: "A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. (DO)" [http://en.wikipedia.org/wiki/Hypoplastic_left_heart_syndrome "DO", http://rarediseases.info.nih.gov/gard/6739/hypoplastic-left-heart-syndrome/resources/1 "DO", http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/hypoplastic_left_heart_syndrome.html "DO"]
synonym: "HAND1-RELATED CONDITION" NARROW []
synonym: "HLHS" EXACT []
synonym: "left heart hypoplasia syndrome" EXACT []
xref: GARD:6739
xref: ICD10CM:Q23.4
xref: ICD9CM:746.7
xref: MESH:D018636
xref: MIM:PS241550
xref: NCI:C98894
xref: ORDO:2248
is_a: DOID:1682 ! congenital heart disease
is_a: DOID:225 ! syndrome

[Term]
id: DOID:9957
name: periostitis
def: "A connective tissue disease characterized by inflammation located_in the periosteum of the bone. (DO)" [https://en.wikipedia.org/wiki/Periostitis "DO"]
synonym: "periostitides" EXACT []
xref: MESH:D010522
is_a: DOID:9005372 ! Inflammation
is_a: DOID:9007047 ! Infectious Bone Diseases

[Term]
id: DOID:9958
name: hemometra
def: "A uterine disease that is characterized by the presence of blood in the uterine cavity. (DO)" [https://en.wikipedia.org/wiki/Hematometra "DO"]
synonym: "hematometra" EXACT []
synonym: "hematometras" EXACT []
xref: EFO:1000962
xref: ICD10CM:N85.7
xref: ICD9CM:621.4
xref: MESH:D006409
is_a: DOID:345 ! uterine disease

[Term]
id: DOID:9965
name: toxoplasmosis
def: "A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. (DO)" [http://en.wikipedia.org/wiki/Toxoplasmosis "DO"]
synonym: "disseminated toxoplasmosis" EXACT []
synonym: "Toxoplasma gondii infection" EXACT []
synonym: "Toxoplasma gondii infections" EXACT []
synonym: "toxoplasmoses" EXACT []
xref: EFO:0007517
xref: ICD10CM:B58
xref: ICD9CM:130
xref: MESH:D014123
xref: NCI:C3418
is_a: DOID:2113 ! coccidiosis

[Term]
id: DOID:9969
name: carotenemia
def: "An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK534878/ "DO"]
synonym: "hypercarotinemia" EXACT []
xref: ICD10CM:E67.1
xref: ICD9CM:278.3
xref: NCI:C26963
is_a: DOID:0060158 ! acquired metabolic disease
created_by: rgd
creation_date: 2017-10-27T00:00:00Z

[Term]
id: DOID:997
name: uterine inversion
def: "A uterine disease that is characterized by the uterine cavity turning inside out as a complication of childbirth. (DO)" [https://en.wikipedia.org/wiki/Uterine_inversion "DO"]
synonym: "inversion of uterus" EXACT []
synonym: "uterus inversion" EXACT []
xref: EFO:1001446
xref: ICD10CM:N85.5
xref: ICD9CM:665.2
xref: MESH:D019687
is_a: DOID:345 ! uterine disease
is_a: DOID:9000610 ! Obstetric Labor Complications

[Term]
id: DOID:9970
name: obesity
def: "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. (DO)" [https://en.wikipedia.org/wiki/Obesity "DO"]
synonym: "ADCY3-RELATED CONDITION" NARROW []
synonym: "LEANNESS" RELATED []
synonym: "Maternal Obesity" NARROW []
synonym: "MELANOCORTIN 4 RECEPTOR POLYMORPHISM" RELATED []
synonym: "MONOGENIC NON-SYNDROMIC OBESITY" NARROW []
synonym: "MONOGENIC OBESITY" NARROW []
synonym: "NR0B2-RELATED CONDITION" NARROW []
synonym: "OBESITY, AGE AT ONSET OF" RELATED []
synonym: "OBESITY, ASSOCIATION WITH" RELATED []
synonym: "Obesity, autosomal dominant" NARROW []
synonym: "obesity disorder" EXACT []
synonym: "OBESITY DUE TO MELANOCORTIN 4 RECEPTOR DEFICIENCY" NARROW []
synonym: "OBESITY DUE TO SIM1 DEFICIENCY" NARROW []
synonym: "OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO" RELATED []
synonym: "Obesity, Late-Onset" NARROW []
synonym: "OBESITY, MILD, EARLY-ONSET" NARROW []
synonym: "OBESITY, RESISTANCE TO" RELATED []
synonym: "OBESITY, SUSCEPTIBILITY TO" RELATED []
synonym: "obesity, variation in" RELATED []
synonym: "severe obesity and type II diabetes" NARROW []
synonym: "SIM1-RELATED CONDITION" NARROW []
synonym: "UCP3 polymorphism G/A" RELATED []
synonym: "UCP3-related condition" BROAD []
xref: EFO:0001073
xref: ICD10CM:E66.9
xref: ICD9CM:278.00
xref: MESH:D000079262
xref: MESH:D009765
xref: MIM:601665
xref: MONDO:0011122
xref: NCI:C159658
xref: NCI:C3283
is_a: DOID:654 ! overnutrition
is_a: DOID:9002569 ! Overweight

[Term]
id: DOID:9971
name: hypervitaminosis D
def: "An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3191699/ "DO"]
xref: ICD10CM:E67.3
xref: ICD9CM:278.4
is_a: DOID:654 ! overnutrition

[Term]
id: DOID:9972
name: hypervitaminosis A
alt_id: MIM:240150
def: "An overnutrition that is characterized by excess vitamin A, has_symptom hepatomegaly, anorexia, fever, alopecia, and arthralgia, and has_material_basis_in excessive intake of vitaimin A, and/or derangement of vitamin A metabolism. (DO)" [https://jamanetwork.com/journals/jamapediatrics/article-abstract/1181005 "DO", https://medlineplus.gov/ency/article/000350.htm "DO"]
xref: EFO:1000978
xref: ICD10CM:E67.0
xref: ICD9CM:278.2
xref: MESH:D006986
is_a: DOID:654 ! overnutrition

[Term]
id: DOID:9973
name: substance dependence
def: "A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Drug_dependence "DO"]
synonym: "substance addiction" EXACT []
xref: NCI:C35458
is_a: DOID:303 ! substance-related disorder
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:9974
name: drug dependence
def: "A substance dependence that involves the continued use of drugs despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Drug_dependence "DO"]
synonym: "drug abuse" BROAD []
synonym: "drug addiction" EXACT []
synonym: "drug addiction, susceptibility to" RELATED []
synonym: "drug habituation" RELATED []
synonym: "drug use disorder" BROAD []
synonym: "drug use disorders" BROAD []
xref: EFO:0003890
xref: ICD9CM:304.60
xref: RDO:9002645
is_a: DOID:9973 ! substance dependence
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:9975
name: cocaine dependence
def: "A drug dependence that is a psychological dependency on the regular use of cocaine. (DO)" [http://en.wikipedia.org/wiki/Cocaine_dependence "DO"]
synonym: "cocaine addiction" EXACT []
synonym: "cocaine dependences" EXACT []
xref: EFO:0002610
xref: ICD10CM:F14.2
xref: ICD9CM:304.2
xref: NCI:C34492
is_a: DOID:9005632 ! Cocaine-Related Disorders
is_a: DOID:9974 ! drug dependence
created_by: rgd
creation_date: 2017-10-18T00:00:00Z

[Term]
id: DOID:9976
name: heroin dependence
def: "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Opioid_dependence "DO"]
synonym: "heroin abuse" EXACT []
synonym: "heroin addiction" EXACT []
xref: EFO:0004240
xref: MESH:D006556
xref: NCI:C34694
is_a: DOID:2559 ! opiate dependence

[Term]
id: DOID:9977
name: hallucinogen dependence
def: "A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Hallucinogenic_drugs "DO"]
xref: ICD10CM:F16.2
xref: ICD9CM:304.5
xref: NCI:C34657
xref: RDO:9002646
is_a: DOID:9974 ! drug dependence
created_by: rgd
creation_date: 2017-10-17T00:00:00Z

[Term]
id: DOID:9978
name: acute female pelvic peritonitis
xref: ICD10CM:N73.3
xref: ICD9CM:614.5
xref: RDO:9002315
is_a: DOID:1003 ! pelvic inflammatory disease
is_a: DOID:8283 ! peritonitis
created_by: rgd
creation_date: 2017-09-28T00:00:00Z

[Term]
id: DOID:998
name: eosinophilia-myalgia syndrome
def: "A hypereosinophilic syndrome that is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration. (DO)" [https://rarediseases.org/rare-diseases/eosinophilia-myalgia-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848710/ "DO"]
synonym: "eosinophilia-myalgia syndromes" EXACT []
synonym: "L-Tryptophan-Related Eosinophilia-Myalgia Syndrome" EXACT []
synonym: "L-Tryptophan-Related Eosinophilia-Myalgia Syndromes" EXACT []
xref: EFO:1001316
xref: GARD:6345
xref: ICD9CM:710.5
xref: MESH:D016603
is_a: DOID:0080000 ! muscular disease
is_a: DOID:999 ! hypereosinophilic syndrome

[Term]
id: DOID:9986
name: orbit lymphoma
def: "An orbital cancer that has_material_basis_in some lymphocyte. (DO)" [https://en.wikipedia.org/wiki/Orbital_lymphoma "DO"]
synonym: "lymphoma of the orbit" EXACT []
synonym: "orbital lymphoma" EXACT []
synonym: "primary orbital lymphoma" EXACT []
xref: GARD:9719
xref: MESH:C537131
xref: NCI:C6244
is_a: DOID:0060058 ! lymphoma
is_a: DOID:4143 ! orbital cancer

[Term]
id: DOID:9987
name: orbit sarcoma
def: "An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6095 "DO"]
synonym: "orbital sarcoma" EXACT []
xref: NCI:C6095
is_a: DOID:1115 ! sarcoma
is_a: DOID:4143 ! orbital cancer
created_by: rgd
creation_date: 2017-11-02T00:00:00Z

[Term]
id: DOID:9988
name: tertiary neurosyphilis
def: "A tertiary syphilis that results in infection located in brain or located in spinal cord. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000703.htm "DO"]
synonym: "late neurosyphilis" EXACT []
xref: ICD10CM:A52.3
xref: ICD9CM:094
xref: NCI:C84935
xref: RDO:9002430
is_a: DOID:319 ! spinal cord disease
is_a: DOID:8200 ! tertiary syphilis
is_a: DOID:9001414 ! Neurosyphilis
is_a: DOID:936 ! brain disease
created_by: rgd
creation_date: 2017-10-02T00:00:00Z

[Term]
id: DOID:999
name: hypereosinophilic syndrome
alt_id: MIM:607685
def: "A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs. (DO)" [https://en.wikipedia.org/wiki/Hypereosinophilic_syndrome "DO", https://www.mayoclinic.org/diseases-conditions/hypereosinophilic-syndrome/symptoms-causes/syc-20352854 "DO"]
synonym: "Eosinophilic Leukemia" EXACT []
synonym: "Eosinophilic Leukemias" EXACT []
synonym: "eosinophilic leukocytosis" EXACT []
synonym: "HES" EXACT []
synonym: "HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB" NARROW []
synonym: "Hypereosinophilic Syndromes" EXACT []
synonym: "Idiopathic Hypereosinophilic Syndrome" EXACT []
synonym: "Idiopathic Hypereosinophilic Syndromes" EXACT []
synonym: "Loeffler's Endocarditis" EXACT []
synonym: "Loeffler Endocarditis" EXACT []
synonym: "Loefflers endocarditis" EXACT []
xref: EFO:1001467
xref: GARD:2804
xref: ICD10CM:D72.1
xref: ICD9CM:288.3
xref: MESH:D017681
xref: ORDO:168956
is_a: DOID:225 ! syndrome
is_a: DOID:9001371 ! Eosinophilia

[Term]
id: DOID:9993
name: hypoglycemia
def: "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose. (DO)" [https://www.niddk.nih.gov/health-information/diabetes/overview/preventing-problems/low-blood-glucose-hypoglycemia "DO"]
synonym: "Fasting Hypoglycemia" EXACT []
synonym: "hypoglycaemia" EXACT []
synonym: "Postabsorptive Hypoglycemia" EXACT []
synonym: "Postprandial Hypoglycemia" EXACT []
synonym: "Reactive Hypoglycemia" EXACT []
xref: ICD10CM:E16.2
xref: ICD9CM:251.2
xref: MESH:D007003
xref: NCI:C3126
is_a: DOID:1428 ! endocrine pancreas disease
is_a: DOID:4194 ! glucose metabolism disease

[Term]
id: DOID:9997
name: peripartum cardiomyopathy
def: "A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30575651/ "DO", https://www.hopkinsmedicine.org/health/conditions-and-diseases/peripartum-cardiomyopathy "DO"]
synonym: "antepartum peripartum cardiomyopathy" EXACT []
synonym: "peripartum cardiomyopathy, susceptibility to" RELATED []
synonym: "postpartum peripartum cardiomyopathy" EXACT []
xref: EFO:0002628
xref: GARD:220
xref: ICD10CM:O90.3
xref: ICD9CM:674.5
xref: MIM:614670
xref: NCI:C171602
xref: ORDO:563
is_a: DOID:12930 ! dilated cardiomyopathy
created_by: rgd
creation_date: 2017-09-05T00:00:00Z